diff --git a/.env-sample b/.env-sample index 044c7834..a4609805 100644 --- a/.env-sample +++ b/.env-sample @@ -44,3 +44,33 @@ FRONTEND_PORT=3000 #BACKEND_ROOT=http://localhost:8888 # use if running django on a different port +####### VCF IMPORT SETTINGS (WIP) ####### + +VCF_FILE=/Users/username/path/to/joint/file.vcf + +# you can compare to a previous set of TSV output files and show hash differences per file +#HASH_COMPARE=/Users/username/path/to/tsv_files + + +## VARIOME joint vcf format example settings ## + +# include only these ranges per chromosome (eg: 22:27010000-27020000,X:2702000-2802000) +RANGES= +# whether to keep 'chr' prefix in chromosome names +OUT_CHR=True +# whether to use hyphen '-' in variant IDs instead of underscores '_' +OUT_HYPHENS=True + +# CADD phred score threshold (if greater than or equal to this number, counts as "damaging") +CADD_DAMAGING_THRESHOLD=20 +# fallback None value filler +NA=. +# Default transcript source if unknown (E = Ensembl, R = Refseq) +DEFAULT_TRANSCRIPT_SOURCE=E +# Path to dir containing severity table file +INPUT_TSV_PATH=data/fixtures + + +## IBVL joint vcf format example settings ## + +#CADD_DAMAGING_THRESHOLD=15 # verify ? \ No newline at end of file diff --git a/.gitignore b/.gitignore index 7f439170..ac01297a 100644 --- a/.gitignore +++ b/.gitignore @@ -177,3 +177,5 @@ data/backups/* # because it depends on OS and is generated dynamically package-lock.json + +vcf_import/output \ No newline at end of file diff --git a/.vscode/launch.json b/.vscode/launch.json index ccea5670..79a67407 100644 --- a/.vscode/launch.json +++ b/.vscode/launch.json @@ -1,100 +1,143 @@ { - // Use IntelliSense to learn about possible attributes. - // Hover to view descriptions of existing attributes. - // For more information, visit: https://go.microsoft.com/fwlink/?linkid=830387 - "version": "0.2.0", - "configurations": [ - { - "name": "Debug mange.py import_bvl ", - "type": "debugpy", - "request": "launch", - "program": "${workspaceFolder}/manage.py", - "args": [ - "import_bvl", - "--failfast" - ], - "django": true - - }, - { - "name": "Debug mange.py import_bvl (delete first)", - "type": "debugpy", - "request": "launch", - "program": "${workspaceFolder}/manage.py", - "args": [ - "import_bvl", - "--failfast", - "--delete" - ], - "django": true - - }, - { - "name": "Debug mange.py import_bvl (update consequences only)", - "type": "debugpy", - "request": "launch", - "program": "${workspaceFolder}/manage.py", - "args": [ - "import_bvl", - "--failfast", - "--no-severities", - "--no-genes", - "--no-variants", - "--no-transcripts", - "--no-snvs", - "--no-gvfs", - "--no-ggfs", - "--no-annotations", - "--no-vts", - "--no-progress" - ], - "django": true - - }, - { - "name": "Python Debugger: Django", - "type": "debugpy", - "request": "launch", - "args": [ - "runserver" - ], - "django": true, - "autoStartBrowser": false, - "program": "${workspaceFolder}/manage.py" - } - ,{ - "name": "debug migrate", - "type": "debugpy", - "request": "launch", - "python": "${workspaceFolder}/.venv/bin/python", - "program": "${workspaceFolder}/manage.py", - "args": [ - "migrate" - ], - "console": "integratedTerminal", - "justMyCode": true, - "env": { - "PYTHONPATH": "${workspaceFolder}" - }, - "cwd": "${workspaceFolder}" - }, - { - "name": "debug a migration", - "type": "debugpy", - "request": "launch", - "python": "${workspaceFolder}/.venv/bin/python", - "program": "${workspaceFolder}/manage.py", - "args": [ - "migrate", - "library_access", - "0002_migrate_pghistory_to_auditlog" - ], - "console": "integratedTerminal", - "justMyCode": true, - "env": { - "PYTHONPATH": "${workspaceFolder}" - }, - "cwd": "${workspaceFolder}" - } - ] - } \ No newline at end of file + // Use IntelliSense to learn about possible attributes. + // Hover to view descriptions of existing attributes. + // For more information, visit: https://go.microsoft.com/fwlink/?linkid=830387 + "version": "0.2.0", + "configurations": [ + { + "name": "import_bvl TSV ", + "type": "debugpy", + "request": "launch", + "program": "${workspaceFolder}/manage.py", + "args": [ + "import_bvl", + "--failfast", + "--no-progress" + ], + "django": true + }, + { + "name": "import_bvl TSV (delete first)", + "type": "debugpy", + "request": "launch", + "program": "${workspaceFolder}/manage.py", + "args": [ + "import_bvl", + "--failfast", + "--no-progress", + "--delete" + ], + "django": true + }, + { + "name": "import_bvl TSV (update consequences only)", + "type": "debugpy", + "request": "launch", + "program": "${workspaceFolder}/manage.py", + "args": [ + "import_bvl", + "--failfast", + "--no-severities", + "--no-genes", + "--no-variants", + "--no-transcripts", + "--no-snvs", + "--no-gvfs", + "--no-ggfs", + "--no-annotations", + "--no-vts", + "--no-progress" + ], + "django": true + }, + { + "name": "Import VCF (delete first)", + "type": "python", + "request": "launch", + "python": "${workspaceFolder}/.venv/bin/python", + "program": "${workspaceFolder}/manage.py", + "args": [ + "import_bvl_vcf", + "--vcf", + "data/fixtures/vcf/variome.vcf", + "--delete", + "--no-progress" + ], + "console": "integratedTerminal", + "cwd": "${workspaceFolder}" + }, + { + "name": "Import VCF", + "type": "python", + "request": "launch", + "python": "${workspaceFolder}/.venv/bin/python", + "program": "${workspaceFolder}/manage.py", + "args": [ + "import_bvl_vcf", + "--vcf", + "data/fixtures/vcf/variome.vcf", + "--no-progress" + ], + "console": "integratedTerminal", + "cwd": "${workspaceFolder}" + }, + { + "name": "Debug vcf import tests", + "type": "debugpy", + "request": "launch", + "module": "pytest", + "args": [ + "-s", + "--log-cli-level=DEBUG", + "vcf_import/VCF_test.py" + ], + "console": "integratedTerminal", + "justMyCode": false, + }, + { + "name": "Python Debugger: Django", + "type": "debugpy", + "request": "launch", + "args": [ + "runserver" + ], + "django": true, + "autoStartBrowser": false, + "program": "${workspaceFolder}/manage.py" + }, + { + "name": "debug migrate", + "type": "debugpy", + "request": "launch", + "python": "${workspaceFolder}/.venv/bin/python", + "program": "${workspaceFolder}/manage.py", + "args": [ + "migrate" + ], + "console": "integratedTerminal", + "justMyCode": true, + "env": { + "PYTHONPATH": "${workspaceFolder}" + }, + "cwd": "${workspaceFolder}" + }, + { + "name": "debug a migration", + "type": "debugpy", + "request": "launch", + "python": "${workspaceFolder}/.venv/bin/python", + "program": "${workspaceFolder}/manage.py", + "args": [ + "migrate", + "library_access", + "0002_migrate_pghistory_to_auditlog" + ], + "console": "integratedTerminal", + "justMyCode": true, + "env": { + "PYTHONPATH": "${workspaceFolder}" + }, + "cwd": "${workspaceFolder}" + } + ] +} \ No newline at end of file diff --git a/README.md b/README.md index 8234b3ed..8dc5dd56 100644 --- a/README.md +++ b/README.md @@ -146,6 +146,94 @@ Markdown format files in the /content folder are treated as full pages, availabl Markdown format files in /content/Home are individual, "hard-coded" page elements on the Home page, so you shouldn't add more or rename these. +### config reference +PUBLIC_BVL - opens the database for public access, as a demonstration app. For this to work, a shared user account must also be created ( username: `public_demo_user`, email: `public_demo_user@example.com` ) + + +# Importing from a VCF file + +Use the `import_bvl_vcf` management command to import data directly from a VCF file into the database. + +Mitochondrial tables are omitted because these are not part of the currently used VCF reference files. + +## Quickstart + +``` +python manage.py import_bvl_vcf --vcf /path/to/joint.vcf +python manage.py create_indices +``` + +Run `python manage.py import_bvl_vcf --help` for a full list of options. + +## Key options + +| Option | Default | Description | +|--------|---------|-------------| +| `--vcf` | *(required)* | Path to the input VCF file (plain text or `.gz`) | +| `--input-tsv-dir` | `data/fixtures` | Path to the dir containing severities.tsv | +| `--na` | `.` | Value used to represent missing/null data | +| `--out-chr` | enabled | Prefix chromosome names with `chr` | +| `--out-hyphens` | enabled | Use hyphens in variant IDs (e.g. `1-100-A-G`) if false, uses underscores instead | +| `--cadd-threshold` | `20` | cadd_intr will be classified as "Damaging" if cadd_score is greater than or equal to this number | +| `--default-transcript-source` | `E` | Fallback transcript source when unknown (`E`=Ensembl, `R`=RefSeq) | +| `--ranges` | *(all)* | Restrict processing to specific regions, e.g. `22:27010000-27020000,X:2702000-2802000` | +| `--convert-to-tsv` | disabled | Write TSV files instead of importing into the database | +| `--tsv-output-dir` | `data/vcf_output` | Directory for TSV output (requires `--convert-to-tsv`) | +| `--hash-compare` | *(none)* | Directory of an existing TSV set to compare output hashes against (requires `--convert-to-tsv`) | +| `--dry-run` / `-n` | disabled | Parse and validate without writing to the database | +| `--delete` | disabled | Delete all existing data before importing | +| `--no-genes`, `--no-variants`, etc. | *(all enabled)* | Skip specific tables | + +## Comparing output against a reference TSV set + +When `--convert-to-tsv` is active, pass `--hash-compare` to verify that the generated TSV files +match a previously known-good set ( this is useful for development of this project, ensuring consistency with legacy tsv-producting tools): + +``` +python manage.py import_bvl_vcf \ + --vcf /path/to/joint.vcf \ + --convert-to-tsv \ + --tsv-output-dir data/vcf_output \ + --hash-compare data/reference_tsvs +``` + +Per-file hash differences are reported in the log output. + +## Running backend tests + +All backend tests (middleware and VCF import filters) live in `variome_backend/tests/`. + +First, install dev dependencies: + +``` +uv sync --dev +``` + +Run all backend tests once: + +``` +DB= uv run python manage.py test variome_backend.tests --verbosity=2 +``` + +Tests run against an in-memory SQLite database (no Postgres connection needed). If the `DB` environment variable is set in your shell, prefix the command with `DB=` to clear it for the test run, or simply use the watch script below which handles this automatically. + +Run all backend tests and automatically re-run whenever a `.py` file changes (recommended during development): + +``` +bash run_backend_tests.sh +``` + +Or inline, without the script: + +``` +uv run watchmedo shell-command \ + --patterns="*.py" \ + --recursive \ + --drop \ + --command='uv run python manage.py test variome_backend.tests --verbosity=2' \ + . +``` + ### attributions example DNA image: https://commons.wikimedia.org/wiki/File:202104_Laboratory_instrument_dna.svg diff --git a/data/fixtures/vcf/variome.vcf b/data/fixtures/vcf/variome.vcf new file mode 100644 index 00000000..e11e07ab --- /dev/null +++ b/data/fixtures/vcf/variome.vcf @@ -0,0 +1,9625 @@ +##fileformat=VCFv4.2 +##FILTER= +##FILTER= +##GLnexusConfig={unifier_config: {drop_filtered: false, min_allele_copy_number: 1, min_AQ1: 10, min_AQ2: 10, min_GQ: 0, max_alleles_per_site: 32, monoallelic_sites_for_lost_alleles: true, preference: common}, genotyper_config: {revise_genotypes: true, min_assumed_allele_frequency: 9.99999975e-05, snv_prior_calibration: 0.600000024, indel_prior_calibration: 0.449999988, required_dp: 0, allow_partial_data: true, allele_dp_format: AD, ref_dp_format: MIN_DP, output_residuals: false, more_PL: true, squeeze: false, trim_uncalled_alleles: true, top_two_half_calls: false, output_format: BCF, liftover_fields: [{orig_names: [MIN_DP, DP], name: DP, description: "##FORMAT=", type: int, number: basic, default_type: missing, count: 1, combi_method: min, ignore_non_variants: true}, {orig_names: [AD], name: AD, description: "##FORMAT=", type: int, number: alleles, default_type: zero, count: 0, combi_method: min, ignore_non_variants: false}, {orig_names: [GQ], name: GQ, description: "##FORMAT=", type: int, number: basic, default_type: missing, count: 1, combi_method: min, ignore_non_variants: true}, {orig_names: [PL], name: PL, description: "##FORMAT=", type: int, number: genotype, default_type: missing, count: 0, combi_method: missing, ignore_non_variants: true}]}} +##GLnexusConfigCRC32C=2932316105 +##GLnexusConfigName=DeepVariantWGS +##GLnexusVersion=v1.4.1-0-g68e25e5 +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##VEP-command-line='vep --assembly GRCh38 --cache --ccds --check_existing --compress_output bgzip --database 0 --dir_cache [PATH]/ensembl-vep --dir_plugins [PATH]/plugins --exclude_null_alleles --fasta [PATH]/GCA_000001405.15_GRCh38_no_alt_analysis_set.fna --force_overwrite --format vcf --gene_phenotype --hgvs --hgvsg --input_file [PATH]/chr20:10000001-20000000.vcf.gz --merged --no_stats --offline --output_file [PATH]/chr20:10000001-20000000_vep_unsplit.vcf.gz --plugin UTRannotator,[PATH]/uORF_5UTR_GRCh38_PUBLIC.txt --protein --regulatory --symbol --tsl --uniprot --use_transcript_ref --vcf' +##VEP="v113.0" API="v113" time="2025-04-28 15:10:55" cache="/projects/health_sciences/womens_and_childrens_health_oms/GenomicResources/Resources/ensembl-vep/homo_sapiens_merged/113_GRCh38" ensembl=113.58650ec ensembl-compara=113.9cf749d ensembl-funcgen=113.e30608c ensembl-io=113.bee6816 ensembl-variation=113.ebfce74 1000genomes="phase3" COSMIC="99" ClinVar="202404" HGMD-PUBLIC="20204" assembly="GRCh38.p14" dbSNP="156" gencode="GENCODE 47" genebuild="GENCODE47" gnomADe="v4.1" gnomADg="v4.1" polyphen="2.2.3" refseq="GCF_000001405.40-RS_2023_10 - GCF_000001405.40_GRCh38.p14_genomic.gff" regbuild="1.0" sift="6.2.1" +##bcftools_annotateCommand=annotate -a /projects/health_sciences/womens_and_childrens_health_oms/GenomicResources/Resources/AlphaMissense/AlphaMissense_hg38_mod.tsv.gz -c CHROM,POS,REF,ALT,-,AlphaMissense_uniprot_id,AlphaMissense_transcript_id,AlphaMissense_protein_variant,AlphaMissense_pathogenicity,AlphaMissense_class -r chr20:10000001-20000000 -h /weka/users/marda14p/2024_07_16_GLN_DV_Krakened_Fixed_GQ20_defaults_GRCh38_Annotating/headers/AlphaMissense.hdr --threads 1 -Ob -o /weka/users/marda14p/2024_07_16_GLN_DV_Krakened_Fixed_GQ20_defaults_GRCh38_Annotating/ann/TEMP/chr20:10000001-20000000_AlphaMissense.bcf /weka/users/marda14p/2024_07_16_GLN_DV_Krakened_Fixed_GQ20_defaults_GRCh38_Annotating/ann/TEMP/chr20:10000001-20000000_CADDIndel.bcf; Date=Mon Apr 28 15:17:32 2025 +##bcftools_annotateVersion=1.21+htslib-1.21 +##bcftools_normCommand=norm -m - --multi-overlaps 0 --fasta-ref /resource/bundles/hg38/GCA_000001405.15_GRCh38/GCA_000001405.15_GRCh38_no_alt_plus_hs38d1_analysis_set.fna --threads 4 -Ou -o /scratch/marda14p/HG002_Full_GQ20/2024_07_16_GLN_DV_Krakened_Norm.bcf /mnt/hcs/genomics-aotearoa/variome/SequenceData/hg38/HG002_VariantCalls/Krakened/DV_GLNexus_Krakened/2024_07_16_GLN_DV_Krakened/2024_07_16_GLN_DV_Krakened.bcf; Date=Wed Aug 7 16:40:02 2024 +##bcftools_normVersion=1.20+htslib-1.20 +##bcftools_pluginCommand=plugin fill-tags --write-index=tbi -Oz -o /scratch/marda14p/HG002_Full_GQ20/2024_07_16_GLN_DV_Krakened_Fixed_GQ20.vcf.gz -- /scratch/marda14p/HG002_Full_GQ20/2024_07_16_GLN_DV_Krakened_Norm_FM_OL_OD_FP_FL_Ftags.bcf -t numhomalt=AC_Hom/2,numhomalt_XX=AC_Hom_XX/2,numhomalt_XY=AC_Hom_XY/2,numhet=AC_Het,numhet_XX=AC_Het_XX,numhet_XY=AC_Het_XY,numhemi=AC_Hemi,numhemi_XX=AC_Hemi_XX,numhemi_XY=AC_Hemi_XY; Date=Wed Aug 7 16:47:19 2024 +##bcftools_pluginVersion=1.20+htslib-1.20 +##bcftools_split-vepCommand=split-vep -c SYMBOL,Gene,Feature_type,Feature,Allele,existing_InFrame_oORFs,existing_OutOfFrame_oORFs,existing_uORFs,five_prime_UTR_variant_annotation,five_prime_UTR_variant_consequence -p VEP_ -Oz -o /weka/users/marda14p/2024_07_16_GLN_DV_Krakened_Fixed_GQ20_defaults_GRCh38_Annotating/vep/chr20:10000001-20000000_vep.vcf.gz /weka/users/marda14p/2024_07_16_GLN_DV_Krakened_Fixed_GQ20_defaults_GRCh38_Annotating/vep/chr20:10000001-20000000_vep_unsplit.vcf.gz; Date=Mon Apr 28 15:13:21 2025 +##bcftools_split-vepVersion=1.21+htslib-1.21 +##bcftools_viewCommand=view -r chr20:10000001-20000000 -Oz -o /weka/users/marda14p/2024_07_16_GLN_DV_Krakened_Fixed_GQ20_defaults_GRCh38_Annotating/vep/chr20:10000001-20000000.vcf.gz /home/marda14p/2024_07_16_GLN_DV_Krakened_Fixed_GQ20.vcf.gz; Date=Mon Apr 28 15:10:51 2025 +##bcftools_viewVersion=1.21+htslib-1.21 +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##existing_InFrame_oORFs=The number of existing inFrame overlapping ORFs (inFrame oORF) at the 5 prime UTR +##existing_OutOfFrame_oORFs=The number of existing out-of-frame overlapping ORFs (OutOfFrame oORF) at the 5 prime UTR +##existing_uORFs=The number of existing uORFs with a stop codon within the 5 prime UTR +##five_prime_UTR_variant_annotation=Output the annotation of a given 5 prime UTR variant +##five_prime_UTR_variant_consequence=Output the variant consequences of a given 5 prime UTR variant: uAUG_gained, uAUG_lost, uSTOP_lost or uFrameshift +##bcftools_viewCommand=view -G -O v -o /mnt/auto-hcs/genomics-aotearoa-variome/HG002_SequenceData/hg38/VariantCalls/Krakened/2024_07_16_GLN_DV_Krakened/Fixed/2024_07_16_GLN_DV_Krakened_Fixed_GQ20_Annotated_6/2024_07_16_GLN_DV_Krakened_Fixed_GQ20_ann_NoSamples.vcf.gz /mnt/auto-hcs/genomics-aotearoa-variome/HG002_SequenceData/hg38/VariantCalls/Krakened/2024_07_16_GLN_DV_Krakened/Fixed/2024_07_16_GLN_DV_Krakened_Fixed_GQ20_Annotated_6/2024_07_16_GLN_DV_Krakened_Fixed_GQ20_ann.vcf.gz; Date=Mon Jan 26 10:14:43 2026 +#CHROM POS ID REF ALT QUAL FILTER INFO +chr22 27000075 chr22_27000075_C_T C T 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=3.213;CADD_Rawscore=0.29452;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717151|lncRNA||6/6|ENST00000717151.1:n.760-2081C>T|||||||rs8136857||1||HGNC|HGNC:50731|||||||||Ensembl||C|C||||chr22:g.27000075C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA||2/2|ENST00000717153.1:n.346-3392C>T|||||||rs8136857||1||HGNC|HGNC:50731|||||||||Ensembl||C|C||||chr22:g.27000075C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985582|107985582|Transcript|XR_001755472.2|lncRNA||1/1|XR_001755472.2:n.51+1889C>T|||||||rs8136857||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27000075C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000717151,ENST00000717153,XR_001755472.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000244625,ENSG00000244625,107985582;VEP_SYMBOL=MIATNB,MIATNB,LOC107985582;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=61731;gnomADv4_1_AC_joint_XX=31461;gnomADv4_1_AC_joint_XY=30270;gnomADv4_1_AF_grpmax_joint=0.642336;gnomADv4_1_AF_joint=0.413946;gnomADv4_1_AF_joint_XX=0.411137;gnomADv4_1_AF_joint_XY=0.416908;gnomADv4_1_AN_grpmax_joint=4932;gnomADv4_1_AN_joint=149128;gnomADv4_1_AN_joint_XX=76522;gnomADv4_1_AN_joint_XY=72606;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13270;gnomADv4_1_nhomalt_joint_XX=6677;gnomADv4_1_nhomalt_joint_XY=6593;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27000323 chr22_27000323_G_A G A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.05;CADD_Rawscore=-0.801739;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717151|lncRNA||6/6|ENST00000717151.1:n.760-1833G>A|||||||rs6005262||1||HGNC|HGNC:50731|||||||||Ensembl||G|G||||chr22:g.27000323G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA||2/2|ENST00000717153.1:n.346-3144G>A|||||||rs6005262||1||HGNC|HGNC:50731|||||||||Ensembl||G|G||||chr22:g.27000323G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985582|107985582|Transcript|XR_001755472.2|lncRNA||1/1|XR_001755472.2:n.52-1833G>A|||||||rs6005262||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27000323G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000717151,ENST00000717153,XR_001755472.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000244625,ENSG00000244625,107985582;VEP_SYMBOL=MIATNB,MIATNB,LOC107985582;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=26211;gnomADv4_1_AC_joint_XX=13780;gnomADv4_1_AC_joint_XY=12431;gnomADv4_1_AF_grpmax_joint=0.232004;gnomADv4_1_AF_joint=0.172468;gnomADv4_1_AF_joint_XX=0.177299;gnomADv4_1_AF_joint_XY=0.167412;gnomADv4_1_AN_grpmax_joint=41426;gnomADv4_1_AN_joint=151976;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2439;gnomADv4_1_nhomalt_joint_XX=1307;gnomADv4_1_nhomalt_joint_XY=1132;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27000908 chr22_27000908_G_A G A 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.756;CADD_Rawscore=-0.08939;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717151|lncRNA||6/6|ENST00000717151.1:n.760-1248G>A|||||||rs80034906||1||HGNC|HGNC:50731|||||||||Ensembl||G|G||||chr22:g.27000908G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA||2/2|ENST00000717153.1:n.346-2559G>A|||||||rs80034906||1||HGNC|HGNC:50731|||||||||Ensembl||G|G||||chr22:g.27000908G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985582|107985582|Transcript|XR_001755472.2|lncRNA||1/1|XR_001755472.2:n.52-1248G>A|||||||rs80034906||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27000908G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000717151,ENST00000717153,XR_001755472.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000244625,ENSG00000244625,107985582;VEP_SYMBOL=MIATNB,MIATNB,LOC107985582;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=1905;gnomADv4_1_AC_joint_XX=1025;gnomADv4_1_AC_joint_XY=880;gnomADv4_1_AF_grpmax_joint=0.0203376;gnomADv4_1_AF_joint=0.0125151;gnomADv4_1_AF_joint_XX=0.0131772;gnomADv4_1_AF_joint_XY=0.0118232;gnomADv4_1_AN_grpmax_joint=68002;gnomADv4_1_AN_joint=152216;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11;gnomADv4_1_nhomalt_joint_XX=6;gnomADv4_1_nhomalt_joint_XY=5;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27001312 chr22_27001312_AT_A AT A 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=14;CADDIndel_PHREDscore=0.467;CADDIndel_Rawscore=-0.210079;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717151|lncRNA||6/6|ENST00000717151.1:n.760-818del|||||||rs71192972||1||HGNC|HGNC:50731|||||||||Ensembl||T|T|||25|chr22:g.27001338del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA||2/2|ENST00000717153.1:n.346-2129del|||||||rs71192972||1||HGNC|HGNC:50731|||||||||Ensembl||T|T|||25|chr22:g.27001338del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985582|107985582|Transcript|XR_001755472.2|lncRNA||1/1|XR_001755472.2:n.52-818del|||||||rs71192972||1||EntrezGene||||||||||RefSeq||T|T|||25|chr22:g.27001338del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000717151,ENST00000717153,XR_001755472.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000244625,ENSG00000244625,107985582;VEP_SYMBOL=MIATNB,MIATNB,LOC107985582;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=17680;gnomADv4_1_AC_joint_XX=9408;gnomADv4_1_AC_joint_XY=8272;gnomADv4_1_AF_grpmax_joint=0.250571;gnomADv4_1_AF_joint=0.197401;gnomADv4_1_AF_joint_XX=0.198649;gnomADv4_1_AF_joint_XY=0.196;gnomADv4_1_AN_grpmax_joint=2626;gnomADv4_1_AN_joint=89564;gnomADv4_1_AN_joint_XX=47360;gnomADv4_1_AN_joint_XY=42204;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1373;gnomADv4_1_nhomalt_joint_XX=675;gnomADv4_1_nhomalt_joint_XY=698;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27002781 chr22_27002781_C_T C T 49 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=2.147;CADD_Rawscore=0.182783;CSQ=T|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717151|lncRNA||||||||||rs2516071|25|1||HGNC|HGNC:50731|||||||||Ensembl||C|C||||chr22:g.27002781C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA||2/2|ENST00000717153.1:n.346-686C>T|||||||rs2516071||1||HGNC|HGNC:50731|||||||||Ensembl||C|C||||chr22:g.27002781C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC107985582|107985582|Transcript|XR_001755472.2|lncRNA||||||||||rs2516071|35|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27002781C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000717151,ENST00000717153,XR_001755472.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000244625,ENSG00000244625,107985582;VEP_SYMBOL=MIATNB,MIATNB,LOC107985582;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=151421;gnomADv4_1_AC_joint_XX=77445;gnomADv4_1_AC_joint_XY=73976;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.997227;gnomADv4_1_AF_joint_XX=0.997052;gnomADv4_1_AF_joint_XY=0.997411;gnomADv4_1_AN_grpmax_joint=5126;gnomADv4_1_AN_joint=151842;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74168;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=75502;gnomADv4_1_nhomalt_joint_XX=38608;gnomADv4_1_nhomalt_joint_XY=36894;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27002786 chr22_27002786_T_C T C 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.429;CADD_Rawscore=-0.231468;CSQ=C|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717151|lncRNA||||||||||rs7287426|30|1||HGNC|HGNC:50731|||||||||Ensembl||T|T||||chr22:g.27002786T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA||2/2|ENST00000717153.1:n.346-681T>C|||||||rs7287426||1||HGNC|HGNC:50731|||||||||Ensembl||T|T||||chr22:g.27002786T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC107985582|107985582|Transcript|XR_001755472.2|lncRNA||||||||||rs7287426|40|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27002786T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000717151,ENST00000717153,XR_001755472.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000244625,ENSG00000244625,107985582;VEP_SYMBOL=MIATNB,MIATNB,LOC107985582;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=106622;gnomADv4_1_AC_joint_XX=54974;gnomADv4_1_AC_joint_XY=51648;gnomADv4_1_AF_grpmax_joint=0.765468;gnomADv4_1_AF_joint=0.705704;gnomADv4_1_AF_joint_XX=0.710258;gnomADv4_1_AF_joint_XY=0.70092;gnomADv4_1_AN_grpmax_joint=41150;gnomADv4_1_AN_joint=151086;gnomADv4_1_AN_joint_XX=77400;gnomADv4_1_AN_joint_XY=73686;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=37775;gnomADv4_1_nhomalt_joint_XX=19638;gnomADv4_1_nhomalt_joint_XY=18137;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27003531 chr22_27003531_A_G A G 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=22.1;CADD_Rawscore=3.28983;CSQ=G|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717151|lncRNA||||||||||rs2516083|775|1||HGNC|HGNC:50731|||||||||Ensembl||A|A||||chr22:g.27003531A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA|3/3||ENST00000717153.1:n.410A>G||410|||||rs2516083||1||HGNC|HGNC:50731|||||||||Ensembl||A|A||||chr22:g.27003531A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC107985582|107985582|Transcript|XR_001755472.2|lncRNA||||||||||rs2516083|785|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27003531A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000717151,ENST00000717153,XR_001755472.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000244625,ENSG00000244625,107985582;VEP_SYMBOL=MIATNB,MIATNB,LOC107985582;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=83555;gnomADv4_1_AC_joint_XX=42949;gnomADv4_1_AC_joint_XY=40606;gnomADv4_1_AF_grpmax_joint=0.635549;gnomADv4_1_AF_joint=0.549465;gnomADv4_1_AF_joint_XX=0.552427;gnomADv4_1_AF_joint_XY=0.546367;gnomADv4_1_AN_grpmax_joint=15286;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=23193;gnomADv4_1_nhomalt_joint_XX=11966;gnomADv4_1_nhomalt_joint_XY=11227;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27003613 chr22_27003613_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.053;CADD_Rawscore=-0.004314;CSQ=C|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717151|lncRNA||||||||||rs2516084|857|1||HGNC|HGNC:50731|||||||||Ensembl||T|T||||chr22:g.27003613T>C|||1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA|3/3||ENST00000717153.1:n.492T>C||492|||||rs2516084||1||HGNC|HGNC:50731|||||||||Ensembl||T|T||||chr22:g.27003613T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|LOC107985582|107985582|Transcript|XR_001755472.2|lncRNA||||||||||rs2516084|867|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27003613T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000717151,ENST00000717153,XR_001755472.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000244625,ENSG00000244625,107985582;VEP_SYMBOL=MIATNB,MIATNB,LOC107985582;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=121724;gnomADv4_1_AC_joint_XX=62431;gnomADv4_1_AC_joint_XY=59293;gnomADv4_1_AF_grpmax_joint=0.837608;gnomADv4_1_AF_joint=0.799963;gnomADv4_1_AF_joint_XX=0.802599;gnomADv4_1_AF_joint_XY=0.797206;gnomADv4_1_AN_grpmax_joint=15284;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=48885;gnomADv4_1_nhomalt_joint_XX=25094;gnomADv4_1_nhomalt_joint_XY=23791;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27004391 chr22_27004391_T_C T C 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=12.71;CADD_Rawscore=1.27212;CSQ=C|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717151|lncRNA||||||||||rs4820727|1635|1||HGNC|HGNC:50731|||||||||Ensembl||T|T||||chr22:g.27004391T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA|3/3||ENST00000717153.1:n.1270T>C||1270|||||rs4820727||1||HGNC|HGNC:50731|||||||||Ensembl||T|T||||chr22:g.27004391T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC107985582|107985582|Transcript|XR_001755472.2|lncRNA||||||||||rs4820727|1645|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27004391T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000717151,ENST00000717153,XR_001755472.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000244625,ENSG00000244625,107985582;VEP_SYMBOL=MIATNB,MIATNB,LOC107985582;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=15017;gnomADv4_1_AC_joint_XX=7689;gnomADv4_1_AC_joint_XY=7328;gnomADv4_1_AF_grpmax_joint=0.156463;gnomADv4_1_AF_joint=0.0986403;gnomADv4_1_AF_joint_XX=0.0988253;gnomADv4_1_AF_joint_XY=0.098447;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152240;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=774;gnomADv4_1_nhomalt_joint_XX=414;gnomADv4_1_nhomalt_joint_XY=360;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27006063 chr22_27006063_C_A C A 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.537;CADD_Rawscore=0.413265;CSQ=A|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717151|lncRNA||||||||||rs2516070|3307|1||HGNC|HGNC:50731|||||||||Ensembl||C|C||||chr22:g.27006063C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA||||||||||rs2516070|1369|1||HGNC|HGNC:50731|||||||||Ensembl||C|C||||chr22:g.27006063C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC107985582|107985582|Transcript|XR_001755472.2|lncRNA||||||||||rs2516070|3317|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27006063C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000717151,ENST00000717153,XR_001755472.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000244625,ENSG00000244625,107985582;VEP_SYMBOL=MIATNB,MIATNB,LOC107985582;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=151664;gnomADv4_1_AC_joint_XX=77532;gnomADv4_1_AC_joint_XY=74132;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.995772;gnomADv4_1_AF_joint_XX=0.996094;gnomADv4_1_AF_joint_XY=0.995435;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152308;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=75515;gnomADv4_1_nhomalt_joint_XX=38615;gnomADv4_1_nhomalt_joint_XY=36900;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27006529 chr22_27006529_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.771;CADD_Rawscore=-0.084617;CSQ=G|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717151|lncRNA||||||||||rs2516085|3773|1||HGNC|HGNC:50731|||||||||Ensembl||A|A||||chr22:g.27006529A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA||||||||||rs2516085|1835|1||HGNC|HGNC:50731|||||||||Ensembl||A|A||||chr22:g.27006529A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC107985582|107985582|Transcript|XR_001755472.2|lncRNA||||||||||rs2516085|3783|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27006529A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000717151,ENST00000717153,XR_001755472.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000244625,ENSG00000244625,107985582;VEP_SYMBOL=MIATNB,MIATNB,LOC107985582;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=121016;gnomADv4_1_AC_joint_XX=62002;gnomADv4_1_AC_joint_XY=59014;gnomADv4_1_AF_grpmax_joint=0.840695;gnomADv4_1_AF_joint=0.795007;gnomADv4_1_AF_joint_XX=0.7969;gnomADv4_1_AF_joint_XY=0.793028;gnomADv4_1_AN_grpmax_joint=15304;gnomADv4_1_AN_joint=152220;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=48282;gnomADv4_1_nhomalt_joint_XX=24737;gnomADv4_1_nhomalt_joint_XY=23545;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27008473 chr22_27008473_ACAT_A ACAT A 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=1.18;CADDIndel_Rawscore=0.025316;CSQ=-|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA||||||||||rs143263823|3780|1||HGNC|HGNC:50731|||||||||Ensembl||CAT|CAT||||chr22:g.27008482_27008484del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000717153;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000244625;VEP_SYMBOL=MIATNB;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=21432;gnomADv4_1_AC_joint_XX=11153;gnomADv4_1_AC_joint_XY=10279;gnomADv4_1_AF_grpmax_joint=0.27442;gnomADv4_1_AF_joint=0.142972;gnomADv4_1_AF_joint_XX=0.145365;gnomADv4_1_AF_joint_XY=0.140462;gnomADv4_1_AN_grpmax_joint=40828;gnomADv4_1_AN_joint=149904;gnomADv4_1_AN_joint_XX=76724;gnomADv4_1_AN_joint_XY=73180;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2009;gnomADv4_1_nhomalt_joint_XX=1081;gnomADv4_1_nhomalt_joint_XY=928;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27008673 chr22_27008673_TATCACC_T TATCACC T 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADDIndel_PHREDscore=2.389;CADDIndel_Rawscore=0.211355;CSQ=-|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA||||||||||rs138579824|3980|1||HGNC|HGNC:50731|||||||||Ensembl||ATCACC|ATCACC||||chr22:g.27008696_27008701del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000717153;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000244625;VEP_SYMBOL=MIATNB;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=11141;gnomADv4_1_AC_joint_XX=5687;gnomADv4_1_AC_joint_XY=5454;gnomADv4_1_AF_grpmax_joint=0.139907;gnomADv4_1_AF_joint=0.0796366;gnomADv4_1_AF_joint_XX=0.0791775;gnomADv4_1_AF_joint_XY=0.080121;gnomADv4_1_AN_grpmax_joint=14238;gnomADv4_1_AN_joint=139898;gnomADv4_1_AN_joint_XX=71826;gnomADv4_1_AN_joint_XY=68072;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=487;gnomADv4_1_nhomalt_joint_XX=264;gnomADv4_1_nhomalt_joint_XY=223;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27009049 chr22_27009049_C_T C T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.478;CADD_Rawscore=-0.204193;CSQ=T|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA||||||||||rs2516086|4355|1||HGNC|HGNC:50731|||||||||Ensembl||C|C||||chr22:g.27009049C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000717153;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000244625;VEP_SYMBOL=MIATNB;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=121812;gnomADv4_1_AC_joint_XX=62454;gnomADv4_1_AC_joint_XY=59358;gnomADv4_1_AF_grpmax_joint=0.833551;gnomADv4_1_AF_joint=0.80072;gnomADv4_1_AF_joint_XX=0.803246;gnomADv4_1_AF_joint_XY=0.79808;gnomADv4_1_AN_grpmax_joint=15302;gnomADv4_1_AN_joint=152128;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=48958;gnomADv4_1_nhomalt_joint_XX=25128;gnomADv4_1_nhomalt_joint_XY=23830;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27009160 chr22_27009160_AT_A AT A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=0.709;CADDIndel_Rawscore=-0.105554;CSQ=-|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA||||||||||rs58700049|4467|1||HGNC|HGNC:50731|||||||||Ensembl||T|T||||chr22:g.27009162del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000717153;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000244625;VEP_SYMBOL=MIATNB;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=122256;gnomADv4_1_AC_joint_XX=62624;gnomADv4_1_AC_joint_XY=59632;gnomADv4_1_AF_grpmax_joint=0.851263;gnomADv4_1_AF_joint=0.803597;gnomADv4_1_AF_joint_XX=0.805226;gnomADv4_1_AF_joint_XY=0.801893;gnomADv4_1_AN_grpmax_joint=15282;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=49331;gnomADv4_1_nhomalt_joint_XX=25267;gnomADv4_1_nhomalt_joint_XY=24064;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27009206 chr22_27009206_A_G A G 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.971;CADD_Rawscore=0.159998;CSQ=G|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA||||||||||rs5761898|4512|1||HGNC|HGNC:50731|||||||||Ensembl||A|A||||chr22:g.27009206A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000717153;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000244625;VEP_SYMBOL=MIATNB;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=54778;gnomADv4_1_AC_joint_XX=27855;gnomADv4_1_AC_joint_XY=26923;gnomADv4_1_AF_grpmax_joint=0.37415;gnomADv4_1_AF_joint=0.360145;gnomADv4_1_AF_joint_XX=0.358264;gnomADv4_1_AF_joint_XY=0.362112;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9926;gnomADv4_1_nhomalt_joint_XX=4998;gnomADv4_1_nhomalt_joint_XY=4928;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27009395 chr22_27009395_C_T C T 53 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.055;CADD_Rawscore=-0.775345;CSQ=T|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA||||||||||rs12710564|4701|1||HGNC|HGNC:50731|||||||||Ensembl||C|C||||chr22:g.27009395C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000717153;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000244625;VEP_SYMBOL=MIATNB;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37347;gnomADv4_1_AC_joint_XX=18999;gnomADv4_1_AC_joint_XY=18348;gnomADv4_1_AF_grpmax_joint=0.36338;gnomADv4_1_AF_joint=0.245575;gnomADv4_1_AF_joint_XX=0.244404;gnomADv4_1_AF_joint_XY=0.246799;gnomADv4_1_AN_grpmax_joint=41436;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5067;gnomADv4_1_nhomalt_joint_XX=2540;gnomADv4_1_nhomalt_joint_XY=2527;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27009422 chr22_27009422_T_G T G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.555;CADD_Rawscore=-0.16729;CSQ=G|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA||||||||||rs2516087|4728|1||HGNC|HGNC:50731|||||||||Ensembl||T|T||||chr22:g.27009422T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000717153;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000244625;VEP_SYMBOL=MIATNB;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=114519;gnomADv4_1_AC_joint_XX=58599;gnomADv4_1_AC_joint_XY=55920;gnomADv4_1_AF_grpmax_joint=0.832069;gnomADv4_1_AF_joint=0.752711;gnomADv4_1_AF_joint_XX=0.753569;gnomADv4_1_AF_joint_XY=0.751815;gnomADv4_1_AN_grpmax_joint=15292;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=43356;gnomADv4_1_nhomalt_joint_XX=22151;gnomADv4_1_nhomalt_joint_XY=21205;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27009479 chr22_27009479_G_C G C 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.054;CADD_Rawscore=-0.004196;CSQ=C|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA||||||||||rs35079022|4785|1||HGNC|HGNC:50731|||||||||Ensembl||G|G||||chr22:g.27009479G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000717153;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000244625;VEP_SYMBOL=MIATNB;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=17109;gnomADv4_1_AC_joint_XX=8753;gnomADv4_1_AC_joint_XY=8356;gnomADv4_1_AF_grpmax_joint=0.119409;gnomADv4_1_AF_joint=0.112433;gnomADv4_1_AF_joint_XX=0.112538;gnomADv4_1_AF_joint_XY=0.112324;gnomADv4_1_AN_grpmax_joint=41496;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1002;gnomADv4_1_nhomalt_joint_XX=476;gnomADv4_1_nhomalt_joint_XY=526;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27009662 chr22_27009662_A_G A G 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=2.652;CADD_Rawscore=0.239812;CSQ=G|downstream_gene_variant|MODIFIER|MIATNB|ENSG00000244625|Transcript|ENST00000717153|lncRNA||||||||||rs2516088|4968|1||HGNC|HGNC:50731|||||||||Ensembl||A|A||||chr22:g.27009662A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000717153;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000244625;VEP_SYMBOL=MIATNB;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=41753;gnomADv4_1_AC_joint_XX=21382;gnomADv4_1_AC_joint_XY=20371;gnomADv4_1_AF_grpmax_joint=0.459184;gnomADv4_1_AF_joint=0.27438;gnomADv4_1_AF_joint_XX=0.274939;gnomADv4_1_AF_joint_XY=0.273796;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152172;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6093;gnomADv4_1_nhomalt_joint_XX=3128;gnomADv4_1_nhomalt_joint_XY=2965;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27010029 chr22_27010029_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.214;CADD_Rawscore=0.032557;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs2516089|||||||||||||||||||||chr22:g.27010029A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=123644;gnomADv4_1_AC_joint_XX=63379;gnomADv4_1_AC_joint_XY=60265;gnomADv4_1_AF_grpmax_joint=0.908448;gnomADv4_1_AF_joint=0.812176;gnomADv4_1_AF_joint_XX=0.814598;gnomADv4_1_AF_joint_XY=0.809643;gnomADv4_1_AN_grpmax_joint=41572;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=50737;gnomADv4_1_nhomalt_joint_XX=26032;gnomADv4_1_nhomalt_joint_XY=24705;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27010473 chr22_27010473_C_A C A 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.146;CADD_Rawscore=-0.510214;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs2516090|||||||||||||||||||||chr22:g.27010473C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26727;gnomADv4_1_AC_joint_XX=13610;gnomADv4_1_AC_joint_XY=13117;gnomADv4_1_AF_grpmax_joint=0.32208;gnomADv4_1_AF_joint=0.175651;gnomADv4_1_AF_joint_XX=0.174981;gnomADv4_1_AF_joint_XY=0.176351;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2634;gnomADv4_1_nhomalt_joint_XX=1328;gnomADv4_1_nhomalt_joint_XY=1306;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27010538 chr22_27010538_C_T C T 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.598;CADD_Rawscore=-0.148384;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs12159895|||||||||||||||||||||chr22:g.27010538C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37448;gnomADv4_1_AC_joint_XX=18885;gnomADv4_1_AC_joint_XY=18563;gnomADv4_1_AF_grpmax_joint=0.396473;gnomADv4_1_AF_joint=0.246158;gnomADv4_1_AF_joint_XX=0.242831;gnomADv4_1_AF_joint_XY=0.249637;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4870;gnomADv4_1_nhomalt_joint_XX=2379;gnomADv4_1_nhomalt_joint_XY=2491;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27010742 chr22_27010742_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=2.58;CADD_Rawscore=0.232293;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs8142137|||||||||||||||||||||chr22:g.27010742T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=57619;gnomADv4_1_AC_joint_XX=29832;gnomADv4_1_AC_joint_XY=27787;gnomADv4_1_AF_grpmax_joint=0.478329;gnomADv4_1_AF_joint=0.379132;gnomADv4_1_AF_joint_XX=0.384037;gnomADv4_1_AF_joint_XY=0.374004;gnomADv4_1_AN_grpmax_joint=41438;gnomADv4_1_AN_joint=151976;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11517;gnomADv4_1_nhomalt_joint_XX=6001;gnomADv4_1_nhomalt_joint_XY=5516;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27011183 chr22_27011183_T_G T G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=5.305;CADD_Rawscore=0.484698;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs6005264|||||||||||||||||||||chr22:g.27011183T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38778;gnomADv4_1_AC_joint_XX=19620;gnomADv4_1_AC_joint_XY=19158;gnomADv4_1_AF_grpmax_joint=0.403279;gnomADv4_1_AF_joint=0.254941;gnomADv4_1_AF_joint_XX=0.252412;gnomADv4_1_AF_joint_XY=0.257583;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152106;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5165;gnomADv4_1_nhomalt_joint_XX=2540;gnomADv4_1_nhomalt_joint_XY=2625;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27012358 chr22_27012358_G_A G A 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.424;CADD_Rawscore=-0.234589;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs2051634|||||||||||||||||||||chr22:g.27012358G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=94518;gnomADv4_1_AC_joint_XX=48542;gnomADv4_1_AC_joint_XY=45976;gnomADv4_1_AF_grpmax_joint=0.677317;gnomADv4_1_AF_joint=0.625276;gnomADv4_1_AF_joint_XX=0.62719;gnomADv4_1_AF_joint_XY=0.623268;gnomADv4_1_AN_grpmax_joint=41124;gnomADv4_1_AN_joint=151162;gnomADv4_1_AN_joint_XX=77396;gnomADv4_1_AN_joint_XY=73766;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=29980;gnomADv4_1_nhomalt_joint_XX=15423;gnomADv4_1_nhomalt_joint_XY=14557;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27013153 chr22_27013153_C_CTG C CTG 43 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.548;CADDIndel_Rawscore=-0.170198;CSQ=TG|intergenic_variant|MODIFIER|||||||||||||||rs3040949|||||||||||||||||||||chr22:g.27013156_27013157dup|||||||||||||;TYPE=INDEL;VEP_Allele=TG;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=121963;gnomADv4_1_AC_joint_XX=62438;gnomADv4_1_AC_joint_XY=59525;gnomADv4_1_AF_grpmax_joint=0.905676;gnomADv4_1_AF_joint=0.802768;gnomADv4_1_AF_joint_XX=0.803743;gnomADv4_1_AF_joint_XY=0.801748;gnomADv4_1_AN_grpmax_joint=41400;gnomADv4_1_AN_joint=151928;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74244;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=49537;gnomADv4_1_nhomalt_joint_XX=25364;gnomADv4_1_nhomalt_joint_XY=24173;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27013180 chr22_27013180_G_C G C 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=2.503;CADD_Rawscore=0.224034;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5997153|||||||||||||||||||||chr22:g.27013180G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=73348;gnomADv4_1_AC_joint_XX=37510;gnomADv4_1_AC_joint_XY=35838;gnomADv4_1_AF_grpmax_joint=0.633301;gnomADv4_1_AF_joint=0.482724;gnomADv4_1_AF_joint_XX=0.482816;gnomADv4_1_AF_joint_XY=0.482628;gnomADv4_1_AN_grpmax_joint=41380;gnomADv4_1_AN_joint=151946;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18630;gnomADv4_1_nhomalt_joint_XX=9542;gnomADv4_1_nhomalt_joint_XY=9088;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27013370 chr22_27013370_T_C T C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=4.861;CADD_Rawscore=0.442952;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs117382094|||||||||||||||||||||chr22:g.27013370T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=10131;gnomADv4_1_AC_joint_XX=5284;gnomADv4_1_AC_joint_XY=4847;gnomADv4_1_AF_grpmax_joint=0.119048;gnomADv4_1_AF_joint=0.0665707;gnomADv4_1_AF_joint_XX=0.0679352;gnomADv4_1_AF_joint_XY=0.0651443;gnomADv4_1_AN_grpmax_joint=15288;gnomADv4_1_AN_joint=152184;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=505;gnomADv4_1_nhomalt_joint_XX=261;gnomADv4_1_nhomalt_joint_XY=244;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27013487 chr22_27013487_A_G A G 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=4.071;CADD_Rawscore=0.371504;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs75576524|||||||||||||||||||||chr22:g.27013487A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=13896;gnomADv4_1_AC_joint_XX=7332;gnomADv4_1_AC_joint_XY=6564;gnomADv4_1_AF_grpmax_joint=0.129188;gnomADv4_1_AF_joint=0.0912973;gnomADv4_1_AF_joint_XX=0.0942392;gnomADv4_1_AF_joint_XY=0.0882211;gnomADv4_1_AN_grpmax_joint=15280;gnomADv4_1_AN_joint=152206;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=746;gnomADv4_1_nhomalt_joint_XX=406;gnomADv4_1_nhomalt_joint_XY=340;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27013502 chr22_27013502_A_G A G 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.22;CADD_Rawscore=-0.401665;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5997154|||||||||||||||||||||chr22:g.27013502A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=100270;gnomADv4_1_AC_joint_XX=51465;gnomADv4_1_AC_joint_XY=48805;gnomADv4_1_AF_grpmax_joint=0.787809;gnomADv4_1_AF_joint=0.659471;gnomADv4_1_AF_joint_XX=0.662066;gnomADv4_1_AF_joint_XY=0.656758;gnomADv4_1_AN_grpmax_joint=41472;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=33891;gnomADv4_1_nhomalt_joint_XX=17414;gnomADv4_1_nhomalt_joint_XY=16477;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27013710 chr22_27013710_GGA_G GGA G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.737;CADDIndel_Rawscore=-0.09595;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs150219145|||||||||||||||||||||chr22:g.27013728_27013729del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=31955;gnomADv4_1_AC_joint_XX=16195;gnomADv4_1_AC_joint_XY=15760;gnomADv4_1_AF_grpmax_joint=0.358399;gnomADv4_1_AF_joint=0.217897;gnomADv4_1_AF_joint_XX=0.215245;gnomADv4_1_AF_joint_XY=0.220691;gnomADv4_1_AN_grpmax_joint=4548;gnomADv4_1_AN_joint=146652;gnomADv4_1_AN_joint_XX=75240;gnomADv4_1_AN_joint_XY=71412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3586;gnomADv4_1_nhomalt_joint_XX=1748;gnomADv4_1_nhomalt_joint_XY=1838;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27013728 chr22_27013728_AGTGT_A AGTGT A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=1.107;CADDIndel_Rawscore=0.008531;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs58049478|||||||||||||||||||||chr22:g.27013755_27013758del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=9487;gnomADv4_1_AC_joint_XX=5110;gnomADv4_1_AC_joint_XY=4377;gnomADv4_1_AF_grpmax_joint=0.149425;gnomADv4_1_AF_joint=0.0839766;gnomADv4_1_AF_joint_XX=0.0874461;gnomADv4_1_AF_joint_XY=0.0802589;gnomADv4_1_AN_grpmax_joint=174;gnomADv4_1_AN_joint=112972;gnomADv4_1_AN_joint_XX=58436;gnomADv4_1_AN_joint_XY=54536;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=424;gnomADv4_1_nhomalt_joint_XX=242;gnomADv4_1_nhomalt_joint_XY=182;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27014408 chr22_27014408_G_A G A 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=4.313;CADD_Rawscore=0.393056;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs6005265|4961|1||||||||||||Ensembl||G|G||||chr22:g.27014408G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000623027;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000279440;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=44365;gnomADv4_1_AC_joint_XX=22569;gnomADv4_1_AC_joint_XY=21796;gnomADv4_1_AF_grpmax_joint=0.402737;gnomADv4_1_AF_joint=0.291618;gnomADv4_1_AF_joint_XX=0.290232;gnomADv4_1_AF_joint_XY=0.293067;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6814;gnomADv4_1_nhomalt_joint_XX=3415;gnomADv4_1_nhomalt_joint_XY=3399;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27014516 chr22_27014516_C_T C T 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=2.241;CADD_Rawscore=0.194217;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs116938390|4853|1||||||||||||Ensembl||C|C||||chr22:g.27014516C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000623027;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000279440;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=9085;gnomADv4_1_AC_joint_XX=4883;gnomADv4_1_AC_joint_XY=4202;gnomADv4_1_AF_grpmax_joint=0.0890411;gnomADv4_1_AF_joint=0.0596763;gnomADv4_1_AF_joint_XX=0.0627683;gnomADv4_1_AF_joint_XY=0.0564451;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=418;gnomADv4_1_nhomalt_joint_XX=233;gnomADv4_1_nhomalt_joint_XY=185;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27014786 chr22_27014786_C_T C T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.921;CADD_Rawscore=0.153278;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs6005266|4583|1||||||||||||Ensembl||C|C||||chr22:g.27014786C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000623027;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000279440;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38749;gnomADv4_1_AC_joint_XX=19589;gnomADv4_1_AC_joint_XY=19160;gnomADv4_1_AF_grpmax_joint=0.402282;gnomADv4_1_AF_joint=0.254686;gnomADv4_1_AF_joint_XX=0.251916;gnomADv4_1_AF_joint_XY=0.257582;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5167;gnomADv4_1_nhomalt_joint_XX=2540;gnomADv4_1_nhomalt_joint_XY=2627;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27015747 chr22_27015747_C_A C A 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=6.835;CADD_Rawscore=0.640298;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs5761900|3622|1||||||||||||Ensembl||C|C||||chr22:g.27015747C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs5761900|4916|-1||||||||||||Ensembl||C|C||||chr22:g.27015747C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=20783;gnomADv4_1_AC_joint_XX=10520;gnomADv4_1_AC_joint_XY=10263;gnomADv4_1_AF_grpmax_joint=0.325;gnomADv4_1_AF_joint=0.136662;gnomADv4_1_AF_joint_XX=0.135316;gnomADv4_1_AF_joint_XY=0.13807;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1674;gnomADv4_1_nhomalt_joint_XX=823;gnomADv4_1_nhomalt_joint_XY=851;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27015963 chr22_27015963_G_C G C 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=10.72;CADD_Rawscore=1.03434;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs115381434|3406|1||||||||||||Ensembl||G|G||||chr22:g.27015963G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs115381434|4700|-1||||||||||||Ensembl||G|G||||chr22:g.27015963G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=13600;gnomADv4_1_AC_joint_XX=7200;gnomADv4_1_AC_joint_XY=6400;gnomADv4_1_AF_grpmax_joint=0.131698;gnomADv4_1_AF_joint=0.0902875;gnomADv4_1_AF_joint_XX=0.0933828;gnomADv4_1_AF_joint_XY=0.0870417;gnomADv4_1_AN_grpmax_joint=15080;gnomADv4_1_AN_joint=150630;gnomADv4_1_AN_joint_XX=77102;gnomADv4_1_AN_joint_XY=73528;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=725;gnomADv4_1_nhomalt_joint_XX=396;gnomADv4_1_nhomalt_joint_XY=329;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27016018 chr22_27016018_G_GT G GT 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.519;CADDIndel_Rawscore=-0.183817;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs143411619|3350|1||||||||||||Ensembl|||||||chr22:g.27016026dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs143411619|4644|-1||||||||||||Ensembl|||||||chr22:g.27016026dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=69777;gnomADv4_1_AC_joint_XX=36079;gnomADv4_1_AC_joint_XY=33698;gnomADv4_1_AF_grpmax_joint=0.539159;gnomADv4_1_AF_joint=0.462927;gnomADv4_1_AF_joint_XX=0.467369;gnomADv4_1_AF_joint_XY=0.458264;gnomADv4_1_AN_grpmax_joint=15118;gnomADv4_1_AN_joint=150730;gnomADv4_1_AN_joint_XX=77196;gnomADv4_1_AN_joint_XY=73534;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=16628;gnomADv4_1_nhomalt_joint_XX=8638;gnomADv4_1_nhomalt_joint_XY=7990;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27016066 chr22_27016066_C_A C A 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=3.18;CADD_Rawscore=0.291449;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs134907|3303|1||||||||||||Ensembl||C|C||||chr22:g.27016066C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs134907|4597|-1||||||||||||Ensembl||C|C||||chr22:g.27016066C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=53234;gnomADv4_1_AC_joint_XX=27090;gnomADv4_1_AC_joint_XY=26144;gnomADv4_1_AF_grpmax_joint=0.702624;gnomADv4_1_AF_joint=0.351454;gnomADv4_1_AF_joint_XX=0.349702;gnomADv4_1_AF_joint_XY=0.353288;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=151468;gnomADv4_1_AN_joint_XX=77466;gnomADv4_1_AN_joint_XY=74002;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9975;gnomADv4_1_nhomalt_joint_XX=5002;gnomADv4_1_nhomalt_joint_XY=4973;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27016669 chr22_27016669_C_T C T 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.068;CADD_Rawscore=-0.715389;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs134908|2700|1||||||||||||Ensembl||C|C||||chr22:g.27016669C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs134908|3994|-1||||||||||||Ensembl||C|C||||chr22:g.27016669C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=74203;gnomADv4_1_AC_joint_XX=38016;gnomADv4_1_AC_joint_XY=36187;gnomADv4_1_AF_grpmax_joint=0.704791;gnomADv4_1_AF_joint=0.488152;gnomADv4_1_AF_joint_XX=0.489191;gnomADv4_1_AF_joint_XY=0.487065;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18424;gnomADv4_1_nhomalt_joint_XX=9408;gnomADv4_1_nhomalt_joint_XY=9016;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27017298 chr22_27017298_G_A G A 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=1.558;CADD_Rawscore=0.098135;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs134909|2071|1||||||||||||Ensembl||G|G||||chr22:g.27017298G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs134909|3365|-1||||||||||||Ensembl||G|G||||chr22:g.27017298G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=74055;gnomADv4_1_AC_joint_XX=38004;gnomADv4_1_AC_joint_XY=36051;gnomADv4_1_AF_grpmax_joint=0.703942;gnomADv4_1_AF_joint=0.488741;gnomADv4_1_AF_joint_XX=0.49045;gnomADv4_1_AF_joint_XY=0.486952;gnomADv4_1_AN_grpmax_joint=5124;gnomADv4_1_AN_joint=151522;gnomADv4_1_AN_joint_XX=77488;gnomADv4_1_AN_joint_XY=74034;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18361;gnomADv4_1_nhomalt_joint_XX=9409;gnomADv4_1_nhomalt_joint_XY=8952;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27017301 chr22_27017301_C_T C T 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.634;CADD_Rawscore=-0.133614;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs134910|2068|1||||||||||||Ensembl||C|C||||chr22:g.27017301C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs134910|3362|-1||||||||||||Ensembl||C|C||||chr22:g.27017301C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=73987;gnomADv4_1_AC_joint_XX=37974;gnomADv4_1_AC_joint_XY=36013;gnomADv4_1_AF_grpmax_joint=0.703588;gnomADv4_1_AF_joint=0.488073;gnomADv4_1_AF_joint_XX=0.489734;gnomADv4_1_AF_joint_XY=0.486334;gnomADv4_1_AN_grpmax_joint=5128;gnomADv4_1_AN_joint=151590;gnomADv4_1_AN_joint_XX=77540;gnomADv4_1_AN_joint_XY=74050;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18316;gnomADv4_1_nhomalt_joint_XX=9389;gnomADv4_1_nhomalt_joint_XY=8927;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27017354 chr22_27017354_G_C G C 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=2.584;CADD_Rawscore=0.232672;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs12484494|2015|1||||||||||||Ensembl||G|G||||chr22:g.27017354G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs12484494|3309|-1||||||||||||Ensembl||G|G||||chr22:g.27017354G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=11361;gnomADv4_1_AC_joint_XX=5944;gnomADv4_1_AC_joint_XY=5417;gnomADv4_1_AF_grpmax_joint=0.127552;gnomADv4_1_AF_joint=0.0746756;gnomADv4_1_AF_joint_XX=0.076458;gnomADv4_1_AF_joint_XY=0.0728131;gnomADv4_1_AN_grpmax_joint=15280;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=562;gnomADv4_1_nhomalt_joint_XX=290;gnomADv4_1_nhomalt_joint_XY=272;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27017416 chr22_27017416_G_A G A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.051;CADD_Rawscore=-0.796809;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs134911|1953|1||||||||||||Ensembl||G|G||||chr22:g.27017416G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs134911|3247|-1||||||||||||Ensembl||G|G||||chr22:g.27017416G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=74374;gnomADv4_1_AC_joint_XX=38130;gnomADv4_1_AC_joint_XY=36244;gnomADv4_1_AF_grpmax_joint=0.705188;gnomADv4_1_AF_joint=0.489328;gnomADv4_1_AF_joint_XX=0.490708;gnomADv4_1_AF_joint_XY=0.487885;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18510;gnomADv4_1_nhomalt_joint_XX=9466;gnomADv4_1_nhomalt_joint_XY=9044;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27017429 chr22_27017429_G_T G T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.032;CADD_Rawscore=-0.009648;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs134912|1940|1||||||||||||Ensembl||G|G||||chr22:g.27017429G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs134912|3234|-1||||||||||||Ensembl||G|G||||chr22:g.27017429G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=74372;gnomADv4_1_AC_joint_XX=38134;gnomADv4_1_AC_joint_XY=36238;gnomADv4_1_AF_grpmax_joint=0.710475;gnomADv4_1_AF_joint=0.494206;gnomADv4_1_AF_joint_XX=0.49562;gnomADv4_1_AF_joint_XY=0.492726;gnomADv4_1_AN_grpmax_joint=5136;gnomADv4_1_AN_joint=150488;gnomADv4_1_AN_joint_XX=76942;gnomADv4_1_AN_joint_XY=73546;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18509;gnomADv4_1_nhomalt_joint_XX=9464;gnomADv4_1_nhomalt_joint_XY=9045;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27017546 chr22_27017546_A_G A G 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.634;CADD_Rawscore=0.110536;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs134913|1823|1||||||||||||Ensembl||A|A||||chr22:g.27017546A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs134913|3117|-1||||||||||||Ensembl||A|A||||chr22:g.27017546A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=74428;gnomADv4_1_AC_joint_XX=38135;gnomADv4_1_AC_joint_XY=36293;gnomADv4_1_AF_grpmax_joint=0.705222;gnomADv4_1_AF_joint=0.489478;gnomADv4_1_AF_joint_XX=0.490684;gnomADv4_1_AF_joint_XY=0.488216;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18539;gnomADv4_1_nhomalt_joint_XX=9470;gnomADv4_1_nhomalt_joint_XY=9069;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27017580 chr22_27017580_G_A G A 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.776;CADD_Rawscore=-0.08286;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs134914|1789|1||||||||||||Ensembl||G|G||||chr22:g.27017580G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs134914|3083|-1||||||||||||Ensembl||G|G||||chr22:g.27017580G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=74395;gnomADv4_1_AC_joint_XX=38118;gnomADv4_1_AC_joint_XY=36277;gnomADv4_1_AF_grpmax_joint=0.706156;gnomADv4_1_AF_joint=0.489479;gnomADv4_1_AF_joint_XX=0.490642;gnomADv4_1_AF_joint_XY=0.488263;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151988;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18521;gnomADv4_1_nhomalt_joint_XX=9458;gnomADv4_1_nhomalt_joint_XY=9063;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27017697 chr22_27017697_G_A G A 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.599;CADD_Rawscore=-0.1478;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs134915|1672|1||||||||||||Ensembl||G|G||||chr22:g.27017697G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs134915|2966|-1||||||||||||Ensembl||G|G||||chr22:g.27017697G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=53367;gnomADv4_1_AC_joint_XX=27127;gnomADv4_1_AC_joint_XY=26240;gnomADv4_1_AF_grpmax_joint=0.703288;gnomADv4_1_AF_joint=0.351052;gnomADv4_1_AF_joint_XX=0.349188;gnomADv4_1_AF_joint_XY=0.353001;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9997;gnomADv4_1_nhomalt_joint_XX=5003;gnomADv4_1_nhomalt_joint_XY=4994;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27017959 chr22_27017959_T_C T C 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=2.313;CADD_Rawscore=0.202667;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs134916|1410|1||||||||||||Ensembl||T|T||||chr22:g.27017959T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs134916|2704|-1||||||||||||Ensembl||T|T||||chr22:g.27017959T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=74401;gnomADv4_1_AC_joint_XX=38139;gnomADv4_1_AC_joint_XY=36262;gnomADv4_1_AF_grpmax_joint=0.705347;gnomADv4_1_AF_joint=0.489487;gnomADv4_1_AF_joint_XX=0.490887;gnomADv4_1_AF_joint_XY=0.488022;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18521;gnomADv4_1_nhomalt_joint_XX=9470;gnomADv4_1_nhomalt_joint_XY=9051;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27018464 chr22_27018464_A_G A G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=6.005;CADD_Rawscore=0.553662;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs134917|905|1||||||||||||Ensembl||A|A||||chr22:g.27018464A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs134917|2199|-1||||||||||||Ensembl||A|A||||chr22:g.27018464A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=73864;gnomADv4_1_AC_joint_XX=37939;gnomADv4_1_AC_joint_XY=35925;gnomADv4_1_AF_grpmax_joint=0.704411;gnomADv4_1_AF_joint=0.4889;gnomADv4_1_AF_joint_XX=0.490561;gnomADv4_1_AF_joint_XY=0.487158;gnomADv4_1_AN_grpmax_joint=5078;gnomADv4_1_AN_joint=151082;gnomADv4_1_AN_joint_XX=77338;gnomADv4_1_AN_joint_XY=73744;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18337;gnomADv4_1_nhomalt_joint_XX=9403;gnomADv4_1_nhomalt_joint_XY=8934;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27018506 chr22_27018506_CCACT_C CCACT C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=1.431;CADDIndel_Rawscore=0.075755;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs134918|859|1||||||||||||Ensembl||CACT|CACT||||chr22:g.27018519_27018522del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs134918|2153|-1||||||||||||Ensembl||CACT|CACT||||chr22:g.27018519_27018522del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=52577;gnomADv4_1_AC_joint_XX=26801;gnomADv4_1_AC_joint_XY=25776;gnomADv4_1_AF_grpmax_joint=0.697457;gnomADv4_1_AF_joint=0.348261;gnomADv4_1_AF_joint_XX=0.346831;gnomADv4_1_AF_joint_XY=0.349761;gnomADv4_1_AN_grpmax_joint=5034;gnomADv4_1_AN_joint=150970;gnomADv4_1_AN_joint_XX=77274;gnomADv4_1_AN_joint_XY=73696;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9709;gnomADv4_1_nhomalt_joint_XX=4890;gnomADv4_1_nhomalt_joint_XY=4819;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27018652 chr22_27018652_TTCCA_T TTCCA T 48 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=1.353;CADDIndel_Rawscore=0.061106;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs67157394|713|1||||||||||||Ensembl||TCCA|TCCA||||chr22:g.27018676_27018679del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs67157394|2007|-1||||||||||||Ensembl||TCCA|TCCA||||chr22:g.27018676_27018679del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=109227;gnomADv4_1_AC_joint_XX=56479;gnomADv4_1_AC_joint_XY=52748;gnomADv4_1_AF_grpmax_joint=0.808198;gnomADv4_1_AF_joint=0.751786;gnomADv4_1_AF_joint_XX=0.75539;gnomADv4_1_AF_joint_XY=0.747965;gnomADv4_1_AN_grpmax_joint=38816;gnomADv4_1_AN_joint=145290;gnomADv4_1_AN_joint_XX=74768;gnomADv4_1_AN_joint_XY=70522;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=41237;gnomADv4_1_nhomalt_joint_XX=21360;gnomADv4_1_nhomalt_joint_XY=19877;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27019448 chr22_27019448_T_TTTCC T TTTCC 13 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=13;CADDIndel_PHREDscore=0.611;CADDIndel_Rawscore=-0.143081;CSQ=TTCC|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.104_107dup||80-81|||||rs2146012906&rs756118353||1||||||||||||Ensembl||||||27|chr22:g.27019472_27019475dup|||||||||||||,TTCC|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs2146012906&rs756118353|1214|-1||||||||||||Ensembl|||||||chr22:g.27019472_27019475dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTCC,TTCC;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=21714;gnomADv4_1_AC_joint_XX=11388;gnomADv4_1_AC_joint_XY=10326;gnomADv4_1_AF_grpmax_joint=0.283878;gnomADv4_1_AF_joint=0.260553;gnomADv4_1_AF_joint_XX=0.265603;gnomADv4_1_AF_joint_XY=0.255202;gnomADv4_1_AN_grpmax_joint=25518;gnomADv4_1_AN_joint=83338;gnomADv4_1_AN_joint_XX=42876;gnomADv4_1_AN_joint_XY=40462;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2928;gnomADv4_1_nhomalt_joint_XX=1575;gnomADv4_1_nhomalt_joint_XY=1353;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27019487 chr22_27019487_T_C T C 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADD_PHREDscore=1.474;CADD_Rawscore=0.083482;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.119T>C||119|||||rs2149022861&rs2149022862&rs2149022866&rs5761902||1||||||||||||Ensembl||T|T||||chr22:g.27019487T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs2149022861&rs2149022862&rs2149022866&rs5761902|1176|-1||||||||||||Ensembl||T|T||||chr22:g.27019487T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=38968;gnomADv4_1_AC_joint_XX=20303;gnomADv4_1_AC_joint_XY=18665;gnomADv4_1_AF_grpmax_joint=0.651713;gnomADv4_1_AF_joint=0.339047;gnomADv4_1_AF_joint_XX=0.340483;gnomADv4_1_AF_joint_XY=0.337498;gnomADv4_1_AN_grpmax_joint=3678;gnomADv4_1_AN_joint=114934;gnomADv4_1_AN_joint_XX=59630;gnomADv4_1_AN_joint_XY=55304;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7519;gnomADv4_1_nhomalt_joint_XX=3860;gnomADv4_1_nhomalt_joint_XY=3659;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27019550 chr22_27019550_T_C T C 15 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=15;CADD_PHREDscore=2.831;CADD_Rawscore=0.258004;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.182T>C||182|||||rs2149019212&rs2149019213&rs2149019214&rs28496075||1||||||||||||Ensembl||T|T||||chr22:g.27019550T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs2149019212&rs2149019213&rs2149019214&rs28496075|1113|-1||||||||||||Ensembl||T|T||||chr22:g.27019550T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=23120;gnomADv4_1_AC_joint_XX=12230;gnomADv4_1_AC_joint_XY=10890;gnomADv4_1_AF_grpmax_joint=0.479858;gnomADv4_1_AF_joint=0.275264;gnomADv4_1_AF_joint_XX=0.277375;gnomADv4_1_AF_joint_XY=0.272932;gnomADv4_1_AN_grpmax_joint=2532;gnomADv4_1_AN_joint=83992;gnomADv4_1_AN_joint_XX=44092;gnomADv4_1_AN_joint_XY=39900;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3951;gnomADv4_1_nhomalt_joint_XX=2104;gnomADv4_1_nhomalt_joint_XY=1847;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27019576 chr22_27019576_C_CTTCT C CTTCT 16 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=16;CADDIndel_PHREDscore=0.864;CADDIndel_Rawscore=-0.055426;CSQ=TTCT|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.221_224dup||208-209|||||rs2149022893&rs2149022894&rs2149022895&rs71192975||1||||||||||||Ensembl||||||16|chr22:g.27019589_27019592dup|||||||||||||,TTCT|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs2149022893&rs2149022894&rs2149022895&rs71192975|1086|-1||||||||||||Ensembl|||||||chr22:g.27019589_27019592dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTCT,TTCT;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=41969;gnomADv4_1_AC_joint_XX=22174;gnomADv4_1_AC_joint_XY=19795;gnomADv4_1_AF_grpmax_joint=0.702788;gnomADv4_1_AF_joint=0.44646;gnomADv4_1_AF_joint_XX=0.449485;gnomADv4_1_AF_joint_XY=0.443119;gnomADv4_1_AN_grpmax_joint=3156;gnomADv4_1_AN_joint=94004;gnomADv4_1_AN_joint_XX=49332;gnomADv4_1_AN_joint_XY=44672;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11125;gnomADv4_1_nhomalt_joint_XX=5899;gnomADv4_1_nhomalt_joint_XY=5226;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27019601 chr22_27019601_CCT_C CCT C 13 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=13;CADDIndel_PHREDscore=0.28;CADDIndel_Rawscore=-0.339408;CSQ=-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.240_241del||234-235|||||rs199991636&rs2149022896&rs2149022899||1||||||||||||Ensembl||CT|CT|||6|chr22:g.27019608_27019609del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs199991636&rs2149022896&rs2149022899|1060|-1||||||||||||Ensembl||CT|CT||||chr22:g.27019608_27019609del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=3540;gnomADv4_1_AC_joint_XX=1997;gnomADv4_1_AC_joint_XY=1543;gnomADv4_1_AF_grpmax_joint=0.0417208;gnomADv4_1_AF_joint=0.02832;gnomADv4_1_AF_joint_XX=0.0309219;gnomADv4_1_AF_joint_XY=0.0255387;gnomADv4_1_AN_grpmax_joint=56926;gnomADv4_1_AN_joint=125000;gnomADv4_1_AN_joint_XX=64582;gnomADv4_1_AN_joint_XY=60418;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=603;gnomADv4_1_nhomalt_joint_XX=352;gnomADv4_1_nhomalt_joint_XY=251;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27019688 chr22_27019688_C_CTCTTTCTTTCTT C CTCTTTCTTTCTT 17 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=17;CADDIndel_PHREDscore=0.535;CADDIndel_Rawscore=-0.176035;CSQ=TCTTTCTTTCTT|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.375_386dup||320-321|||||rs2146013776&rs748994115||1||||||||||||Ensembl||||||66|chr22:g.27019743_27019754dup|||||||||||||,TCTTTCTTTCTT|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs2146013776&rs748994115|974|-1||||||||||||Ensembl|||||||chr22:g.27019743_27019754dup|||||||||||||;TYPE=INDEL;VEP_Allele=TCTTTCTTTCTT,TCTTTCTTTCTT;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=1898;gnomADv4_1_AC_joint_XX=1059;gnomADv4_1_AC_joint_XY=839;gnomADv4_1_AF_grpmax_joint=0.129032;gnomADv4_1_AF_joint=0.0791493;gnomADv4_1_AF_joint_XX=0.080118;gnomADv4_1_AF_joint_XY=0.0779595;gnomADv4_1_AN_grpmax_joint=62;gnomADv4_1_AN_joint=23980;gnomADv4_1_AN_joint_XX=13218;gnomADv4_1_AN_joint_XY=10762;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=224;gnomADv4_1_nhomalt_joint_XX=127;gnomADv4_1_nhomalt_joint_XY=97;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27020234 chr22_27020234_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.664;CADD_Rawscore=0.241049;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.866C>T||866|||||rs16983396&rs2149019262&rs2149019263&rs2149019265&rs2149019268||1||||||||||||Ensembl||C|C||||chr22:g.27020234C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs16983396&rs2149019262&rs2149019263&rs2149019265&rs2149019268|429|-1||||||||||||Ensembl||C|C||||chr22:g.27020234C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=10945;gnomADv4_1_AC_joint_XX=5586;gnomADv4_1_AC_joint_XY=5359;gnomADv4_1_AF_grpmax_joint=0.108844;gnomADv4_1_AF_joint=0.0718666;gnomADv4_1_AF_joint_XX=0.0718069;gnomADv4_1_AF_joint_XY=0.071929;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152296;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74504;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=441;gnomADv4_1_nhomalt_joint_XX=227;gnomADv4_1_nhomalt_joint_XY=214;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27020560 chr22_27020560_G_A G A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.345;CADD_Rawscore=0.059406;CSQ=A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.1192G>A||1192|||||rs2149019271&rs2149019272&rs2149019273&rs61438424||1||||||||||||Ensembl||G|G||||chr22:g.27020560G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs2149019271&rs2149019272&rs2149019273&rs61438424|103|-1||||||||||||Ensembl||G|G||||chr22:g.27020560G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=11909;gnomADv4_1_AC_joint_XX=6044;gnomADv4_1_AC_joint_XY=5865;gnomADv4_1_AF_grpmax_joint=0.113636;gnomADv4_1_AF_joint=0.0785357;gnomADv4_1_AF_joint_XX=0.0779127;gnomADv4_1_AF_joint_XY=0.0791883;gnomADv4_1_AN_grpmax_joint=308;gnomADv4_1_AN_joint=151638;gnomADv4_1_AN_joint_XX=77574;gnomADv4_1_AN_joint_XY=74064;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=533;gnomADv4_1_nhomalt_joint_XX=277;gnomADv4_1_nhomalt_joint_XY=256;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27020630 chr22_27020630_T_C T C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.375;CADD_Rawscore=-0.265609;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.1262T>C||1262|||||rs1883114&rs2149019276&rs2149019277&rs2149019278&rs2149019282||1||||||||||||Ensembl||T|T||||chr22:g.27020630T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs1883114&rs2149019276&rs2149019277&rs2149019278&rs2149019282|33|-1||||||||||||Ensembl||T|T||||chr22:g.27020630T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=24701;gnomADv4_1_AC_joint_XX=12565;gnomADv4_1_AC_joint_XY=12136;gnomADv4_1_AF_grpmax_joint=0.411297;gnomADv4_1_AF_joint=0.162419;gnomADv4_1_AF_joint_XX=0.161624;gnomADv4_1_AF_joint_XY=0.16325;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2492;gnomADv4_1_nhomalt_joint_XX=1258;gnomADv4_1_nhomalt_joint_XY=1234;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27020862 chr22_27020862_T_C T C 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.271;CADD_Rawscore=-0.348487;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.1494T>C||1494|||||rs4417||1||||||||||||Ensembl||T|T||||chr22:g.27020862T>C|||1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA|2/2||ENST00000833191.1:n.2015A>G||2015|||||rs4417||-1||||||||||||Ensembl||T|T||||chr22:g.27020862T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=130349;gnomADv4_1_AC_joint_XX=66826;gnomADv4_1_AC_joint_XY=63523;gnomADv4_1_AF_grpmax_joint=0.94016;gnomADv4_1_AF_joint=0.857661;gnomADv4_1_AF_joint_XX=0.860251;gnomADv4_1_AF_joint_XY=0.854953;gnomADv4_1_AN_grpmax_joint=41444;gnomADv4_1_AN_joint=151982;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=56188;gnomADv4_1_nhomalt_joint_XX=28861;gnomADv4_1_nhomalt_joint_XY=27327;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27022296 chr22_27022296_C_T C T 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.525;CADD_Rawscore=0.092383;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.2928C>T||2928|||||rs7292569||1||||||||||||Ensembl||C|C||||chr22:g.27022296C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA|2/2||ENST00000833191.1:n.581G>A||581|||||rs7292569||-1||||||||||||Ensembl||C|C||||chr22:g.27022296C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=42745;gnomADv4_1_AC_joint_XX=21956;gnomADv4_1_AC_joint_XY=20789;gnomADv4_1_AF_grpmax_joint=0.383416;gnomADv4_1_AF_joint=0.281132;gnomADv4_1_AF_joint_XX=0.282552;gnomADv4_1_AF_joint_XY=0.279648;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7143;gnomADv4_1_nhomalt_joint_XX=3672;gnomADv4_1_nhomalt_joint_XY=3471;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27022886 chr22_27022886_TACAC_T TACAC T 50 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=5.205;CADDIndel_Rawscore=0.475152;CSQ=-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.3542_3545del||3519-3522|||||rs34422589||1||||||||||||Ensembl||ACAC|ACAC|||23|chr22:g.27022910_27022913del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||1/1|ENST00000833191.1:n.168-181_168-178del|||||||rs34422589||-1||||||||||||Ensembl||ACAC|ACAC||||chr22:g.27022910_27022913del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=89223;gnomADv4_1_AC_joint_XX=45892;gnomADv4_1_AC_joint_XY=43331;gnomADv4_1_AF_grpmax_joint=0.666667;gnomADv4_1_AF_joint=0.601777;gnomADv4_1_AF_joint_XX=0.60308;gnomADv4_1_AF_joint_XY=0.600402;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=148266;gnomADv4_1_AN_joint_XX=76096;gnomADv4_1_AN_joint_XY=72170;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=26989;gnomADv4_1_nhomalt_joint_XX=13901;gnomADv4_1_nhomalt_joint_XY=13088;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27023011 chr22_27023011_GAGA_G GAGA G 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=14.05;CADDIndel_Rawscore=1.47665;CSQ=-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.3649_3651del||3644-3646|||||rs134923||1||||||||||||Ensembl||AGA|AGA|||5|chr22:g.27023017_27023019del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||1/1|ENST00000833191.1:n.167+209_167+211del|||||||rs134923||-1||||||||||||Ensembl||AGA|AGA||||chr22:g.27023017_27023019del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=84015;gnomADv4_1_AC_joint_XX=43055;gnomADv4_1_AC_joint_XY=40960;gnomADv4_1_AF_grpmax_joint=0.662162;gnomADv4_1_AF_joint=0.555126;gnomADv4_1_AF_joint_XX=0.556194;gnomADv4_1_AF_joint_XY=0.554008;gnomADv4_1_AN_grpmax_joint=296;gnomADv4_1_AN_joint=151344;gnomADv4_1_AN_joint_XX=77410;gnomADv4_1_AN_joint_XY=73934;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=24031;gnomADv4_1_nhomalt_joint_XX=12307;gnomADv4_1_nhomalt_joint_XY=11724;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27023385 chr22_27023385_G_GT G GT 45 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=16.0;CADDIndel_Rawscore=1.84162;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.4026dup||4017-4018|||||rs134924||1||||||||||||Ensembl||||||9|chr22:g.27023394dup|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA|1/2||ENST00000833191.1:n.4dup||4-5|||||rs134924||-1||||||||||||Ensembl|||||||chr22:g.27023394dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=100535;gnomADv4_1_AC_joint_XX=52106;gnomADv4_1_AC_joint_XY=48429;gnomADv4_1_AF_grpmax_joint=0.784173;gnomADv4_1_AF_joint=0.696573;gnomADv4_1_AF_joint_XX=0.697817;gnomADv4_1_AF_joint_XY=0.69524;gnomADv4_1_AN_grpmax_joint=278;gnomADv4_1_AN_joint=144328;gnomADv4_1_AN_joint_XX=74670;gnomADv4_1_AN_joint_XY=69658;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=35513;gnomADv4_1_nhomalt_joint_XX=18411;gnomADv4_1_nhomalt_joint_XY=17102;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27023550 chr22_27023550_GT_G;chr22_27023550_G_GT GT G 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=7.853;CADDIndel_Rawscore=0.752449;CSQ=-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.4199del||4183|||||rs134925||1||||||||||||Ensembl||T|T|||16|chr22:g.27023567del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs134925|162|-1||||||||||||Ensembl||T|T||||chr22:g.27023567del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=74949;gnomADv4_1_AC_joint_XX=39188;gnomADv4_1_AC_joint_XY=35761;gnomADv4_1_AF_grpmax_joint=0.62415;gnomADv4_1_AF_joint=0.579025;gnomADv4_1_AF_joint_XX=0.581252;gnomADv4_1_AF_joint_XY=0.576604;gnomADv4_1_AN_grpmax_joint=60290;gnomADv4_1_AN_joint=129440;gnomADv4_1_AN_joint_XX=67420;gnomADv4_1_AN_joint_XY=62020;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=20610;gnomADv4_1_nhomalt_joint_XX=10804;gnomADv4_1_nhomalt_joint_XY=9806;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27023550 chr22_27023550_GT_G;chr22_27023550_G_GT G GT 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADDIndel_PHREDscore=12.23;CADDIndel_Rawscore=1.20518;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.4199dup||4182-4183|||||rs134925||1||||||||||||Ensembl||||||17|chr22:g.27023567dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs134925|161|-1||||||||||||Ensembl|||||||chr22:g.27023567dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=19797;gnomADv4_1_AC_joint_XX=10576;gnomADv4_1_AC_joint_XY=9221;gnomADv4_1_AF_grpmax_joint=0.168361;gnomADv4_1_AF_joint=0.152757;gnomADv4_1_AF_joint_XX=0.156668;gnomADv4_1_AF_joint_XY=0.148505;gnomADv4_1_AN_grpmax_joint=13180;gnomADv4_1_AN_joint=129598;gnomADv4_1_AN_joint_XX=67506;gnomADv4_1_AN_joint_XY=62092;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1496;gnomADv4_1_nhomalt_joint_XX=820;gnomADv4_1_nhomalt_joint_XY=676;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27023827 chr22_27023827_C_T C T 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.996;CADD_Rawscore=-0.018963;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.4459C>T||4459|||||rs1012128||1||||||||||||Ensembl||C|C||||chr22:g.27023827C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs1012128|438|-1||||||||||||Ensembl||C|C||||chr22:g.27023827C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=109528;gnomADv4_1_AC_joint_XX=56256;gnomADv4_1_AC_joint_XY=53272;gnomADv4_1_AF_grpmax_joint=0.812925;gnomADv4_1_AF_joint=0.720901;gnomADv4_1_AF_joint_XX=0.724053;gnomADv4_1_AF_joint_XY=0.717603;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151932;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=40355;gnomADv4_1_nhomalt_joint_XX=20764;gnomADv4_1_nhomalt_joint_XY=19591;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27024150 chr22_27024150_A_G A G 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.854;CADD_Rawscore=-0.058438;CSQ=G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.4782A>G||4782|||||rs114559||1||||||||||||Ensembl||A|A||||chr22:g.27024150A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs114559|761|-1||||||||||||Ensembl||A|A||||chr22:g.27024150A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=93406;gnomADv4_1_AC_joint_XX=47630;gnomADv4_1_AC_joint_XY=45776;gnomADv4_1_AF_grpmax_joint=0.697183;gnomADv4_1_AF_joint=0.614077;gnomADv4_1_AF_joint_XX=0.612652;gnomADv4_1_AF_joint_XY=0.615567;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152108;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=29254;gnomADv4_1_nhomalt_joint_XX=14865;gnomADv4_1_nhomalt_joint_XY=14389;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27024355 chr22_27024355_A_G A G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=2.599;CADD_Rawscore=0.234319;CSQ=G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA|1/1||ENST00000623027.1:n.4987A>G||4987|||||rs9613347||1||||||||||||Ensembl||A|A||||chr22:g.27024355A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs9613347|966|-1||||||||||||Ensembl||A|A||||chr22:g.27024355A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=39260;gnomADv4_1_AC_joint_XX=20006;gnomADv4_1_AC_joint_XY=19254;gnomADv4_1_AF_grpmax_joint=0.336805;gnomADv4_1_AF_joint=0.258062;gnomADv4_1_AF_joint_XX=0.257226;gnomADv4_1_AF_joint_XY=0.258936;gnomADv4_1_AN_grpmax_joint=67980;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5915;gnomADv4_1_nhomalt_joint_XX=2985;gnomADv4_1_nhomalt_joint_XY=2930;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27025173 chr22_27025173_T_G T G 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.869;CADD_Rawscore=-0.053978;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs134926|623|1||||||||||||Ensembl||T|T||||chr22:g.27025173T>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs134926|1784|-1||||||||||||Ensembl||T|T||||chr22:g.27025173T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=93773;gnomADv4_1_AC_joint_XX=47755;gnomADv4_1_AC_joint_XY=46018;gnomADv4_1_AF_grpmax_joint=0.694965;gnomADv4_1_AF_joint=0.61722;gnomADv4_1_AF_joint_XX=0.614687;gnomADv4_1_AF_joint_XY=0.619871;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=151928;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=29528;gnomADv4_1_nhomalt_joint_XX=14954;gnomADv4_1_nhomalt_joint_XY=14574;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27025669 chr22_27025669_A_G A G 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.004;CADD_Rawscore=-1.55783;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs4418|1119|1||||||||||||Ensembl||A|A||||chr22:g.27025669A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs4418|2280|-1||||||||||||Ensembl||A|A||||chr22:g.27025669A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=114489;gnomADv4_1_AC_joint_XX=58509;gnomADv4_1_AC_joint_XY=55980;gnomADv4_1_AF_grpmax_joint=0.867347;gnomADv4_1_AF_joint=0.753207;gnomADv4_1_AF_joint_XX=0.752953;gnomADv4_1_AF_joint_XY=0.753473;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152002;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=43462;gnomADv4_1_nhomalt_joint_XX=22221;gnomADv4_1_nhomalt_joint_XY=21241;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27026902 chr22_27026902_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.552;CADD_Rawscore=0.097002;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs4822833|2352|1||||||||||||Ensembl||G|G||||chr22:g.27026902G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs4822833|3513|-1||||||||||||Ensembl||G|G||||chr22:g.27026902G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=39628;gnomADv4_1_AC_joint_XX=20334;gnomADv4_1_AC_joint_XY=19294;gnomADv4_1_AF_grpmax_joint=0.345481;gnomADv4_1_AF_joint=0.260721;gnomADv4_1_AF_joint_XX=0.261685;gnomADv4_1_AF_joint_XY=0.259712;gnomADv4_1_AN_grpmax_joint=67940;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6011;gnomADv4_1_nhomalt_joint_XX=3080;gnomADv4_1_nhomalt_joint_XY=2931;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27027044 chr22_27027044_T_A T A 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.067;CADD_Rawscore=-0.718306;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs738154|2494|1||||||||||||Ensembl||T|T||||chr22:g.27027044T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs738154|3655|-1||||||||||||Ensembl||T|T||||chr22:g.27027044T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=120130;gnomADv4_1_AC_joint_XX=61562;gnomADv4_1_AC_joint_XY=58568;gnomADv4_1_AF_grpmax_joint=0.867347;gnomADv4_1_AF_joint=0.789602;gnomADv4_1_AF_joint_XX=0.79155;gnomADv4_1_AF_joint_XY=0.787564;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152140;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=47670;gnomADv4_1_nhomalt_joint_XX=24488;gnomADv4_1_nhomalt_joint_XY=23182;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27027601 chr22_27027601_C_T C T 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.151;CADD_Rawscore=-0.501828;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs715496|3051|1||||||||||||Ensembl||C|C||||chr22:g.27027601C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs715496|4212|-1||||||||||||Ensembl||C|C||||chr22:g.27027601C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=118373;gnomADv4_1_AC_joint_XX=60776;gnomADv4_1_AC_joint_XY=57597;gnomADv4_1_AF_grpmax_joint=0.864286;gnomADv4_1_AF_joint=0.79157;gnomADv4_1_AF_joint_XX=0.792675;gnomADv4_1_AF_joint_XY=0.790408;gnomADv4_1_AN_grpmax_joint=280;gnomADv4_1_AN_joint=149542;gnomADv4_1_AN_joint_XX=76672;gnomADv4_1_AN_joint_XY=72870;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=47067;gnomADv4_1_nhomalt_joint_XX=24203;gnomADv4_1_nhomalt_joint_XY=22864;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27027810 chr22_27027810_GTA_G GTA G 20 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=20;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs134929|3261|1||||||||||||Ensembl||TA|TA||||chr22:g.27027819_27027820del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs134929|4422|-1||||||||||||Ensembl||TA|TA||||chr22:g.27027819_27027820del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=.;gnomADv4_1_AC_joint_XX=.;gnomADv4_1_AC_joint_XY=.;gnomADv4_1_AF_grpmax_joint=.;gnomADv4_1_AF_joint=.;gnomADv4_1_AF_joint_XX=.;gnomADv4_1_AF_joint_XY=.;gnomADv4_1_AN_grpmax_joint=.;gnomADv4_1_AN_joint=20372;gnomADv4_1_AN_joint_XX=10762;gnomADv4_1_AN_joint_XY=9610;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=.;gnomADv4_1_nhomalt_joint=.;gnomADv4_1_nhomalt_joint_XX=.;gnomADv4_1_nhomalt_joint_XY=.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27027905 chr22_27027905_G_A G A 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.204;CADD_Rawscore=-0.422289;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs79685620|3355|1||||||||||||Ensembl||G|G||||chr22:g.27027905G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000308315|Transcript|ENST00000833191|lncRNA||||||||||rs79685620|4516|-1||||||||||||Ensembl||G|G||||chr22:g.27027905G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623027,ENST00000833191;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279440,ENSG00000308315;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=8791;gnomADv4_1_AC_joint_XX=4605;gnomADv4_1_AC_joint_XY=4186;gnomADv4_1_AF_grpmax_joint=0.115385;gnomADv4_1_AF_joint=0.0584951;gnomADv4_1_AF_joint_XX=0.059827;gnomADv4_1_AF_joint_XY=0.0570969;gnomADv4_1_AN_grpmax_joint=286;gnomADv4_1_AN_joint=150286;gnomADv4_1_AN_joint_XX=76972;gnomADv4_1_AN_joint_XY=73314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=367;gnomADv4_1_nhomalt_joint_XX=185;gnomADv4_1_nhomalt_joint_XY=182;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27028785 chr22_27028785_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.154;CADD_Rawscore=-0.495546;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs134930|4235|1||||||||||||Ensembl||C|C||||chr22:g.27028785C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000623027;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000279440;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=72553;gnomADv4_1_AC_joint_XX=36843;gnomADv4_1_AC_joint_XY=35710;gnomADv4_1_AF_grpmax_joint=0.560455;gnomADv4_1_AF_joint=0.477046;gnomADv4_1_AF_joint_XX=0.47378;gnomADv4_1_AF_joint_XY=0.480464;gnomADv4_1_AN_grpmax_joint=67984;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=18313;gnomADv4_1_nhomalt_joint_XX=9226;gnomADv4_1_nhomalt_joint_XY=9087;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27029199 chr22_27029199_G_T G T 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.832;CADD_Rawscore=-0.065026;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs134931|4649|1||||||||||||Ensembl||G|G||||chr22:g.27029199G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000623027;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000279440;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=118419;gnomADv4_1_AC_joint_XX=60702;gnomADv4_1_AC_joint_XY=57717;gnomADv4_1_AF_grpmax_joint=0.867347;gnomADv4_1_AF_joint=0.77898;gnomADv4_1_AF_joint_XX=0.780773;gnomADv4_1_AF_joint_XY=0.777103;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=46350;gnomADv4_1_nhomalt_joint_XX=23819;gnomADv4_1_nhomalt_joint_XY=22531;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27029402 chr22_27029402_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=4.763;CADD_Rawscore=0.433867;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs134932|4852|1||||||||||||Ensembl||C|C||||chr22:g.27029402C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000623027;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000279440;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=120192;gnomADv4_1_AC_joint_XX=61621;gnomADv4_1_AC_joint_XY=58571;gnomADv4_1_AF_grpmax_joint=0.867347;gnomADv4_1_AF_joint=0.7903;gnomADv4_1_AF_joint_XX=0.792533;gnomADv4_1_AF_joint_XY=0.787965;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=47763;gnomADv4_1_nhomalt_joint_XX=24552;gnomADv4_1_nhomalt_joint_XY=23211;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27029459 chr22_27029459_A_C A C 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.192;CADD_Rawscore=-0.43809;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000279440|Transcript|ENST00000623027|lncRNA||||||||||rs1028283|4909|1||||||||||||Ensembl||A|A||||chr22:g.27029459A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000623027;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000279440;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=134896;gnomADv4_1_AC_joint_XX=69247;gnomADv4_1_AC_joint_XY=65649;gnomADv4_1_AF_grpmax_joint=0.974232;gnomADv4_1_AF_joint=0.886634;gnomADv4_1_AF_joint_XX=0.890362;gnomADv4_1_AF_joint_XY=0.882735;gnomADv4_1_AN_grpmax_joint=41524;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=60239;gnomADv4_1_nhomalt_joint_XX=31043;gnomADv4_1_nhomalt_joint_XY=29196;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27029629 chr22_27029629_G_A G A 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.096;CADD_Rawscore=-0.623078;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs2331363|||||||||||||||||||||chr22:g.27029629G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=93840;gnomADv4_1_AC_joint_XX=47889;gnomADv4_1_AC_joint_XY=45951;gnomADv4_1_AF_grpmax_joint=0.689032;gnomADv4_1_AF_joint=0.617433;gnomADv4_1_AF_joint_XX=0.616173;gnomADv4_1_AF_joint_XY=0.618752;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=151984;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=29468;gnomADv4_1_nhomalt_joint_XX=14988;gnomADv4_1_nhomalt_joint_XY=14480;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27029694 chr22_27029694_T_G T G 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.135;CADD_Rawscore=-0.530954;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4419|||||||||||||||||||||chr22:g.27029694T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=120340;gnomADv4_1_AC_joint_XX=61681;gnomADv4_1_AC_joint_XY=58659;gnomADv4_1_AF_grpmax_joint=0.867347;gnomADv4_1_AF_joint=0.79094;gnomADv4_1_AF_joint_XX=0.793162;gnomADv4_1_AF_joint_XY=0.788618;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152148;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=47851;gnomADv4_1_nhomalt_joint_XX=24588;gnomADv4_1_nhomalt_joint_XY=23263;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27029827 chr22_27029827_T_C T C 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.029;CADD_Rawscore=-0.947085;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs134933|||||||||||||||||||||chr22:g.27029827T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=81679;gnomADv4_1_AC_joint_XX=41951;gnomADv4_1_AC_joint_XY=39728;gnomADv4_1_AF_grpmax_joint=0.691429;gnomADv4_1_AF_joint=0.537525;gnomADv4_1_AF_joint_XX=0.539938;gnomADv4_1_AF_joint_XY=0.535;gnomADv4_1_AN_grpmax_joint=41420;gnomADv4_1_AN_joint=151954;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22930;gnomADv4_1_nhomalt_joint_XX=11823;gnomADv4_1_nhomalt_joint_XY=11107;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27030485 chr22_27030485_G_C G C 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.882;CADD_Rawscore=-0.050269;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs117675071|||||||||||||||||||||chr22:g.27030485G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=7198;gnomADv4_1_AC_joint_XX=3731;gnomADv4_1_AC_joint_XY=3467;gnomADv4_1_AF_grpmax_joint=0.102041;gnomADv4_1_AF_joint=0.0472856;gnomADv4_1_AF_joint_XX=0.0479514;gnomADv4_1_AF_joint_XY=0.0465894;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152224;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=249;gnomADv4_1_nhomalt_joint_XX=125;gnomADv4_1_nhomalt_joint_XY=124;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27031341 chr22_27031341_G_A G A 30 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADD_PHREDscore=2.884;CADD_Rawscore=0.26319;CSQ=A|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs134935|4546|1||HGNC|HGNC:48029|||||||||Ensembl||G|G||||chr22:g.27031341G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=47522;gnomADv4_1_AC_joint_XX=24510;gnomADv4_1_AC_joint_XY=23012;gnomADv4_1_AF_grpmax_joint=0.462162;gnomADv4_1_AF_joint=0.312443;gnomADv4_1_AF_joint_XX=0.315322;gnomADv4_1_AF_joint_XY=0.309434;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7632;gnomADv4_1_nhomalt_joint_XX=3945;gnomADv4_1_nhomalt_joint_XY=3687;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27031472 chr22_27031472_A_AG A AG 42 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.809;CADDIndel_Rawscore=-0.072389;CSQ=G|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs11398871|4414|1||HGNC|HGNC:48029|||||||||Ensembl|||||||chr22:g.27031475dup|||||||||||||;TYPE=INDEL;VEP_Allele=G;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=83604;gnomADv4_1_AC_joint_XX=42808;gnomADv4_1_AC_joint_XY=40796;gnomADv4_1_AF_grpmax_joint=0.751701;gnomADv4_1_AF_joint=0.549773;gnomADv4_1_AF_joint_XX=0.550656;gnomADv4_1_AF_joint_XY=0.54885;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=24287;gnomADv4_1_nhomalt_joint_XX=12429;gnomADv4_1_nhomalt_joint_XY=11858;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27031735 chr22_27031735_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.642;CADD_Rawscore=-0.130738;CSQ=G|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs6519690|4152|1||HGNC|HGNC:48029|||||||||Ensembl||A|A||||chr22:g.27031735A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=96579;gnomADv4_1_AC_joint_XX=49272;gnomADv4_1_AC_joint_XY=47307;gnomADv4_1_AF_grpmax_joint=0.683796;gnomADv4_1_AF_joint=0.635079;gnomADv4_1_AF_joint_XX=0.634017;gnomADv4_1_AF_joint_XY=0.636189;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=30796;gnomADv4_1_nhomalt_joint_XX=15642;gnomADv4_1_nhomalt_joint_XY=15154;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27032897 chr22_27032897_G_A G A 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.021;CADD_Rawscore=-1.0493;CSQ=A|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs59433790|2990|1||HGNC|HGNC:48029|||||||||Ensembl||G|G||||chr22:g.27032897G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=32851;gnomADv4_1_AC_joint_XX=16584;gnomADv4_1_AC_joint_XY=16267;gnomADv4_1_AF_grpmax_joint=0.408163;gnomADv4_1_AF_joint=0.215957;gnomADv4_1_AF_joint_XX=0.213321;gnomADv4_1_AF_joint_XY=0.218713;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4072;gnomADv4_1_nhomalt_joint_XX=2003;gnomADv4_1_nhomalt_joint_XY=2069;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27032963 chr22_27032963_C_T C T 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.021;CADD_Rawscore=-0.012374;CSQ=T|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs5761914|2924|1||HGNC|HGNC:48029|||||||||Ensembl||C|C||||chr22:g.27032963C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=134783;gnomADv4_1_AC_joint_XX=68441;gnomADv4_1_AC_joint_XY=66342;gnomADv4_1_AF_grpmax_joint=0.986262;gnomADv4_1_AF_joint=0.885728;gnomADv4_1_AF_joint_XX=0.879931;gnomADv4_1_AF_joint_XY=0.891789;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152172;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=59797;gnomADv4_1_nhomalt_joint_XX=30142;gnomADv4_1_nhomalt_joint_XY=29655;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27033089 chr22_27033089_A_G A G 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.71;CADD_Rawscore=0.122487;CSQ=G|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs72617277|2798|1||HGNC|HGNC:48029|||||||||Ensembl||A|A||||chr22:g.27033089A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15171;gnomADv4_1_AC_joint_XX=7583;gnomADv4_1_AC_joint_XY=7588;gnomADv4_1_AF_grpmax_joint=0.176871;gnomADv4_1_AF_joint=0.0996322;gnomADv4_1_AF_joint_XX=0.0974478;gnomADv4_1_AF_joint_XY=0.101915;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152270;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=889;gnomADv4_1_nhomalt_joint_XX=408;gnomADv4_1_nhomalt_joint_XY=481;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27033148 chr22_27033148_C_T C T 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.707;CADD_Rawscore=-0.106266;CSQ=T|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs11090468|2739|1||HGNC|HGNC:48029|||||||||Ensembl||C|C||||chr22:g.27033148C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=20764;gnomADv4_1_AC_joint_XX=10452;gnomADv4_1_AC_joint_XY=10312;gnomADv4_1_AF_grpmax_joint=0.225894;gnomADv4_1_AF_joint=0.13649;gnomADv4_1_AF_joint_XX=0.134403;gnomADv4_1_AF_joint_XY=0.138673;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152128;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1516;gnomADv4_1_nhomalt_joint_XX=765;gnomADv4_1_nhomalt_joint_XY=751;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27033313 chr22_27033313_A_G A G 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=7.566;CADD_Rawscore=0.720357;CSQ=G|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs11090469|2574|1||HGNC|HGNC:48029|||||||||Ensembl||A|A||||chr22:g.27033313A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70031;gnomADv4_1_AC_joint_XX=35577;gnomADv4_1_AC_joint_XY=34454;gnomADv4_1_AF_grpmax_joint=0.581771;gnomADv4_1_AF_joint=0.461185;gnomADv4_1_AF_joint_XX=0.458195;gnomADv4_1_AF_joint_XY=0.464315;gnomADv4_1_AN_grpmax_joint=41396;gnomADv4_1_AN_joint=151850;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=74204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=16612;gnomADv4_1_nhomalt_joint_XX=8438;gnomADv4_1_nhomalt_joint_XY=8174;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27033414 chr22_27033414_G_GC G GC 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=1.133;CADDIndel_Rawscore=0.014639;CSQ=C|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs34532798|2472|1||HGNC|HGNC:48029|||||||||Ensembl|||||||chr22:g.27033417dup|||||||||||||;TYPE=INDEL;VEP_Allele=C;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70464;gnomADv4_1_AC_joint_XX=35784;gnomADv4_1_AC_joint_XY=34680;gnomADv4_1_AF_grpmax_joint=0.592316;gnomADv4_1_AF_joint=0.46411;gnomADv4_1_AF_joint_XX=0.460932;gnomADv4_1_AF_joint_XY=0.467436;gnomADv4_1_AN_grpmax_joint=41412;gnomADv4_1_AN_joint=151826;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74192;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=16891;gnomADv4_1_nhomalt_joint_XX=8578;gnomADv4_1_nhomalt_joint_XY=8313;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27033790 chr22_27033790_C_T C T 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.784;CADD_Rawscore=-0.080198;CSQ=T|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs72617278|2097|1||HGNC|HGNC:48029|||||||||Ensembl||C|C||||chr22:g.27033790C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=14103;gnomADv4_1_AC_joint_XX=7102;gnomADv4_1_AC_joint_XY=7001;gnomADv4_1_AF_grpmax_joint=0.170068;gnomADv4_1_AF_joint=0.0926792;gnomADv4_1_AF_joint_XX=0.0912971;gnomADv4_1_AF_joint_XY=0.0941248;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=787;gnomADv4_1_nhomalt_joint_XX=360;gnomADv4_1_nhomalt_joint_XY=427;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27034115 chr22_27034115_T_G T G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.008;CADD_Rawscore=-1.32396;CSQ=G|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs2142541|1772|1||HGNC|HGNC:48029|||||||||Ensembl||T|T||||chr22:g.27034115T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37449;gnomADv4_1_AC_joint_XX=18965;gnomADv4_1_AC_joint_XY=18484;gnomADv4_1_AF_grpmax_joint=0.32315;gnomADv4_1_AF_joint=0.246093;gnomADv4_1_AF_joint_XX=0.243797;gnomADv4_1_AF_joint_XY=0.248494;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152174;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4711;gnomADv4_1_nhomalt_joint_XX=2352;gnomADv4_1_nhomalt_joint_XY=2359;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27034195 chr22_27034195_A_G A G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.105;CADD_Rawscore=-0.597817;CSQ=G|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs2142542|1692|1||HGNC|HGNC:48029|||||||||Ensembl||A|A||||chr22:g.27034195A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=45960;gnomADv4_1_AC_joint_XX=23409;gnomADv4_1_AC_joint_XY=22551;gnomADv4_1_AF_grpmax_joint=0.375795;gnomADv4_1_AF_joint=0.302066;gnomADv4_1_AF_joint_XX=0.301026;gnomADv4_1_AF_joint_XY=0.303154;gnomADv4_1_AN_grpmax_joint=41496;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7088;gnomADv4_1_nhomalt_joint_XX=3589;gnomADv4_1_nhomalt_joint_XY=3499;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27034341 chr22_27034341_C_T C T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=11.1;CADD_Rawscore=1.0705;CSQ=T|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs2179053|1546|1||HGNC|HGNC:48029|||||||||Ensembl||C|C||||chr22:g.27034341C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33030;gnomADv4_1_AC_joint_XX=16670;gnomADv4_1_AC_joint_XY=16360;gnomADv4_1_AF_grpmax_joint=0.272049;gnomADv4_1_AF_joint=0.21722;gnomADv4_1_AF_joint_XX=0.214433;gnomADv4_1_AF_joint_XY=0.220135;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4085;gnomADv4_1_nhomalt_joint_XX=2035;gnomADv4_1_nhomalt_joint_XY=2050;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27034469 chr22_27034469_C_T C T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.021;CADD_Rawscore=-1.04531;CSQ=T|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs134936|1418|1||HGNC|HGNC:48029|||||||||Ensembl||C|C||||chr22:g.27034469C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=132624;gnomADv4_1_AC_joint_XX=67388;gnomADv4_1_AC_joint_XY=65236;gnomADv4_1_AF_grpmax_joint=0.985902;gnomADv4_1_AF_joint=0.871552;gnomADv4_1_AF_joint_XX=0.866593;gnomADv4_1_AF_joint_XY=0.876734;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=57988;gnomADv4_1_nhomalt_joint_XX=29267;gnomADv4_1_nhomalt_joint_XY=28721;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27034667 chr22_27034667_G_A G A 59 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=2.274;CADD_Rawscore=0.198086;CSQ=A|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs9613348|1220|1||HGNC|HGNC:48029|||||||||Ensembl||G|G||||chr22:g.27034667G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=32778;gnomADv4_1_AC_joint_XX=16508;gnomADv4_1_AC_joint_XY=16270;gnomADv4_1_AF_grpmax_joint=0.274636;gnomADv4_1_AF_joint=0.215707;gnomADv4_1_AF_joint_XX=0.212518;gnomADv4_1_AF_joint_XY=0.219042;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=151956;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4045;gnomADv4_1_nhomalt_joint_XX=2007;gnomADv4_1_nhomalt_joint_XY=2038;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27034761 chr22_27034761_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.094;CADD_Rawscore=-0.628093;CSQ=A|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs9620654|1126|1||HGNC|HGNC:48029|||||||||Ensembl||G|G||||chr22:g.27034761G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=24704;gnomADv4_1_AC_joint_XX=12538;gnomADv4_1_AC_joint_XY=12166;gnomADv4_1_AF_grpmax_joint=0.283839;gnomADv4_1_AF_joint=0.162439;gnomADv4_1_AF_joint_XX=0.161323;gnomADv4_1_AF_joint_XY=0.163605;gnomADv4_1_AN_grpmax_joint=41446;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2548;gnomADv4_1_nhomalt_joint_XX=1273;gnomADv4_1_nhomalt_joint_XY=1275;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27034999 chr22_27034999_TTTTA_T;chr22_27035000_TTTA_T TTTTA T 45 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.668;CADDIndel_Rawscore=-0.120718;CSQ=-|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs134937|884|1||HGNC|HGNC:48029|||||||||Ensembl||TTTA|TTTA||||chr22:g.27035000_27035003del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=66132;gnomADv4_1_AC_joint_XX=33674;gnomADv4_1_AC_joint_XY=32458;gnomADv4_1_AF_grpmax_joint=0.588122;gnomADv4_1_AF_joint=0.498891;gnomADv4_1_AF_joint_XX=0.496257;gnomADv4_1_AF_joint_XY=0.501654;gnomADv4_1_AN_grpmax_joint=4142;gnomADv4_1_AN_joint=132558;gnomADv4_1_AN_joint_XX=67856;gnomADv4_1_AN_joint_XY=64702;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=14828;gnomADv4_1_nhomalt_joint_XX=7552;gnomADv4_1_nhomalt_joint_XY=7276;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27035000 chr22_27034999_TTTTA_T;chr22_27035000_TTTA_T TTTA T 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=24;CADDIndel_PHREDscore=0.338;CADDIndel_Rawscore=-0.291766;CSQ=-|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs141131369|884|1||HGNC|HGNC:48029|||||||||Ensembl||TTA|TTA||||chr22:g.27035001_27035003del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=51312;gnomADv4_1_AC_joint_XX=26283;gnomADv4_1_AC_joint_XY=25029;gnomADv4_1_AF_grpmax_joint=0.676724;gnomADv4_1_AF_joint=0.558358;gnomADv4_1_AF_joint_XX=0.559284;gnomADv4_1_AF_joint_XY=0.557389;gnomADv4_1_AN_grpmax_joint=232;gnomADv4_1_AN_joint=91898;gnomADv4_1_AN_joint_XX=46994;gnomADv4_1_AN_joint_XY=44904;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9377;gnomADv4_1_nhomalt_joint_XX=4798;gnomADv4_1_nhomalt_joint_XY=4579;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27035014 chr22_27035014_G_A G A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.375;CADD_Rawscore=-0.265282;CSQ=A|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs147917526|873|1||HGNC|HGNC:48029|||||||||Ensembl||G|G||||chr22:g.27035014G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000363573;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000200443;VEP_SYMBOL=RNU6-1066P;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=196;gnomADv4_1_AC_joint_XX=95;gnomADv4_1_AC_joint_XY=101;gnomADv4_1_AF_grpmax_joint=0.0155084;gnomADv4_1_AF_joint=0.00130105;gnomADv4_1_AF_joint_XX=0.00122946;gnomADv4_1_AF_joint_XY=0.00137643;gnomADv4_1_AN_grpmax_joint=5094;gnomADv4_1_AN_joint=150648;gnomADv4_1_AN_joint_XX=77270;gnomADv4_1_AN_joint_XY=73378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27035828 chr22_27035828_T_C T C 59 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.21;CADD_Rawscore=-0.414279;CSQ=C|upstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs2223201|59|1||HGNC|HGNC:48029|||||||||Ensembl||T|T||||chr22:g.27035828T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs2223201|4369|1||||||||||||Ensembl||T|T||||chr22:g.27035828T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000363573,ENST00000623814;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914;VEP_SYMBOL=RNU6-1066P,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=33210;gnomADv4_1_AC_joint_XX=16671;gnomADv4_1_AC_joint_XY=16539;gnomADv4_1_AF_grpmax_joint=0.325852;gnomADv4_1_AF_joint=0.218309;gnomADv4_1_AF_joint_XX=0.214357;gnomADv4_1_AF_joint_XY=0.222442;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152124;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4156;gnomADv4_1_nhomalt_joint_XX=2042;gnomADv4_1_nhomalt_joint_XY=2114;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27036008 chr22_27036008_T_C T C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.871;CADD_Rawscore=-0.053512;CSQ=C|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs2205643|17|1||HGNC|HGNC:48029|||||||||Ensembl||T|T||||chr22:g.27036008T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs2205643|4189|1||||||||||||Ensembl||T|T||||chr22:g.27036008T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000363573,ENST00000623814;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914;VEP_SYMBOL=RNU6-1066P,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=34167;gnomADv4_1_AC_joint_XX=17114;gnomADv4_1_AC_joint_XY=17053;gnomADv4_1_AF_grpmax_joint=0.325789;gnomADv4_1_AF_joint=0.225097;gnomADv4_1_AF_joint_XX=0.220456;gnomADv4_1_AF_joint_XY=0.229955;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=151788;gnomADv4_1_AN_joint_XX=77630;gnomADv4_1_AN_joint_XY=74158;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4402;gnomADv4_1_nhomalt_joint_XX=2151;gnomADv4_1_nhomalt_joint_XY=2251;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27036071 chr22_27036071_CT_C CT C 34 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=34;CADDIndel_PHREDscore=1.119;CADDIndel_Rawscore=0.011276;CSQ=-|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs35985073|81|1||HGNC|HGNC:48029|||||||||Ensembl||T|T||||chr22:g.27036095del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs35985073|4125|1||||||||||||Ensembl||T|T||||chr22:g.27036095del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000363573,ENST00000623814;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914;VEP_SYMBOL=RNU6-1066P,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=15337;gnomADv4_1_AC_joint_XX=8451;gnomADv4_1_AC_joint_XY=6886;gnomADv4_1_AF_grpmax_joint=0.180928;gnomADv4_1_AF_joint=0.163326;gnomADv4_1_AF_joint_XX=0.165427;gnomADv4_1_AF_joint_XY=0.16082;gnomADv4_1_AN_grpmax_joint=50860;gnomADv4_1_AN_joint=93904;gnomADv4_1_AN_joint_XX=51086;gnomADv4_1_AN_joint_XY=42818;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=288;gnomADv4_1_nhomalt_joint_XX=139;gnomADv4_1_nhomalt_joint_XY=149;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27037022 chr22_27037022_G_A G A 60 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=3.553;CADD_Rawscore=0.325441;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs4822834|1031|1||HGNC|HGNC:48029|||||||||Ensembl||G|G||||chr22:g.27037022G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs4822834|3175|1||||||||||||Ensembl||G|G||||chr22:g.27037022G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000363573,ENST00000623814;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914;VEP_SYMBOL=RNU6-1066P,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=33808;gnomADv4_1_AC_joint_XX=16952;gnomADv4_1_AC_joint_XY=16856;gnomADv4_1_AF_grpmax_joint=0.280001;gnomADv4_1_AF_joint=0.222208;gnomADv4_1_AF_joint_XX=0.217959;gnomADv4_1_AF_joint_XY=0.226651;gnomADv4_1_AN_grpmax_joint=67982;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4319;gnomADv4_1_nhomalt_joint_XX=2120;gnomADv4_1_nhomalt_joint_XY=2199;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27037216 chr22_27037216_G_A G A 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.717;CADD_Rawscore=-0.102771;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs79037|1225|1||HGNC|HGNC:48029|||||||||Ensembl||G|G||||chr22:g.27037216G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs79037|2981|1||||||||||||Ensembl||G|G||||chr22:g.27037216G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000363573,ENST00000623814;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914;VEP_SYMBOL=RNU6-1066P,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=29943;gnomADv4_1_AC_joint_XX=15224;gnomADv4_1_AC_joint_XY=14719;gnomADv4_1_AF_grpmax_joint=0.414966;gnomADv4_1_AF_joint=0.196786;gnomADv4_1_AF_joint_XX=0.195737;gnomADv4_1_AF_joint_XY=0.197884;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3555;gnomADv4_1_nhomalt_joint_XX=1766;gnomADv4_1_nhomalt_joint_XY=1789;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27037287 chr22_27037287_A_G A G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.644;CADD_Rawscore=0.112217;CSQ=G|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs4822835|1296|1||HGNC|HGNC:48029|||||||||Ensembl||A|A||||chr22:g.27037287A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs4822835|2910|1||||||||||||Ensembl||A|A||||chr22:g.27037287A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000363573,ENST00000623814;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914;VEP_SYMBOL=RNU6-1066P,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=34060;gnomADv4_1_AC_joint_XX=17080;gnomADv4_1_AC_joint_XY=16980;gnomADv4_1_AF_grpmax_joint=0.280853;gnomADv4_1_AF_joint=0.223867;gnomADv4_1_AF_joint_XX=0.219667;gnomADv4_1_AF_joint_XY=0.228256;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4356;gnomADv4_1_nhomalt_joint_XX=2131;gnomADv4_1_nhomalt_joint_XY=2225;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27037303 chr22_27037303_T_C T C 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=2.497;CADD_Rawscore=0.223414;CSQ=C|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs134939|1312|1||HGNC|HGNC:48029|||||||||Ensembl||T|T||||chr22:g.27037303T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs134939|2894|1||||||||||||Ensembl||T|T||||chr22:g.27037303T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000363573,ENST00000623814;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914;VEP_SYMBOL=RNU6-1066P,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=136810;gnomADv4_1_AC_joint_XX=69502;gnomADv4_1_AC_joint_XY=67308;gnomADv4_1_AF_grpmax_joint=0.985934;gnomADv4_1_AF_joint=0.898257;gnomADv4_1_AF_joint_XX=0.89286;gnomADv4_1_AF_joint_XY=0.9039;gnomADv4_1_AN_grpmax_joint=5190;gnomADv4_1_AN_joint=152306;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74464;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61502;gnomADv4_1_nhomalt_joint_XX=31046;gnomADv4_1_nhomalt_joint_XY=30456;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27037922 chr22_27037922_C_A C A 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=5.55;CADD_Rawscore=0.508476;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs17343978|1931|1||HGNC|HGNC:48029|||||||||Ensembl||C|C||||chr22:g.27037922C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs17343978|2275|1||||||||||||Ensembl||C|C||||chr22:g.27037922C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000363573,ENST00000623814;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914;VEP_SYMBOL=RNU6-1066P,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=29987;gnomADv4_1_AC_joint_XX=15246;gnomADv4_1_AC_joint_XY=14741;gnomADv4_1_AF_grpmax_joint=0.417808;gnomADv4_1_AF_joint=0.197029;gnomADv4_1_AF_joint_XX=0.195994;gnomADv4_1_AF_joint_XY=0.19811;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152196;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3562;gnomADv4_1_nhomalt_joint_XX=1770;gnomADv4_1_nhomalt_joint_XY=1792;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27038010 chr22_27038010_C_G C G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.253;CADD_Rawscore=0.040845;CSQ=G|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs5752468|2019|1||HGNC|HGNC:48029|||||||||Ensembl||C|C||||chr22:g.27038010C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs5752468|2187|1||||||||||||Ensembl||C|C||||chr22:g.27038010C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000363573,ENST00000623814;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914;VEP_SYMBOL=RNU6-1066P,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=33848;gnomADv4_1_AC_joint_XX=16966;gnomADv4_1_AC_joint_XY=16882;gnomADv4_1_AF_grpmax_joint=0.280527;gnomADv4_1_AF_joint=0.222643;gnomADv4_1_AF_joint_XX=0.218313;gnomADv4_1_AF_joint_XY=0.227171;gnomADv4_1_AN_grpmax_joint=67972;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4329;gnomADv4_1_nhomalt_joint_XX=2121;gnomADv4_1_nhomalt_joint_XY=2208;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27038088 chr22_27038088_G_A G A 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.562;CADD_Rawscore=0.098705;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs6005270|2097|1||HGNC|HGNC:48029|||||||||Ensembl||G|G||||chr22:g.27038088G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs6005270|2109|1||||||||||||Ensembl||G|G||||chr22:g.27038088G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000363573,ENST00000623814;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914;VEP_SYMBOL=RNU6-1066P,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=27452;gnomADv4_1_AC_joint_XX=14020;gnomADv4_1_AC_joint_XY=13432;gnomADv4_1_AF_grpmax_joint=0.33466;gnomADv4_1_AF_joint=0.180422;gnomADv4_1_AF_joint_XX=0.180284;gnomADv4_1_AF_joint_XY=0.180567;gnomADv4_1_AN_grpmax_joint=41472;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3278;gnomADv4_1_nhomalt_joint_XX=1666;gnomADv4_1_nhomalt_joint_XY=1612;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27038215 chr22_27038215_C_T C T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.325;CADD_Rawscore=0.204042;CSQ=T|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs9613349|2224|1||HGNC|HGNC:48029|||||||||Ensembl||C|C||||chr22:g.27038215C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs9613349|1982|1||||||||||||Ensembl||C|C||||chr22:g.27038215C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000363573,ENST00000623814;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914;VEP_SYMBOL=RNU6-1066P,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=34022;gnomADv4_1_AC_joint_XX=17052;gnomADv4_1_AC_joint_XY=16970;gnomADv4_1_AF_grpmax_joint=0.280443;gnomADv4_1_AF_joint=0.223682;gnomADv4_1_AF_joint_XX=0.219324;gnomADv4_1_AF_joint_XY=0.228239;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4344;gnomADv4_1_nhomalt_joint_XX=2128;gnomADv4_1_nhomalt_joint_XY=2216;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27038251 chr22_27038251_C_T C T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.174;CADD_Rawscore=-0.463619;CSQ=T|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs9613350|2260|1||HGNC|HGNC:48029|||||||||Ensembl||C|C||||chr22:g.27038251C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs9613350|1946|1||||||||||||Ensembl||C|C||||chr22:g.27038251C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000363573,ENST00000623814;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914;VEP_SYMBOL=RNU6-1066P,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=33999;gnomADv4_1_AC_joint_XX=17059;gnomADv4_1_AC_joint_XY=16940;gnomADv4_1_AF_grpmax_joint=0.280345;gnomADv4_1_AF_joint=0.22356;gnomADv4_1_AF_joint_XX=0.219346;gnomADv4_1_AF_joint_XY=0.22797;gnomADv4_1_AN_grpmax_joint=67984;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4341;gnomADv4_1_nhomalt_joint_XX=2130;gnomADv4_1_nhomalt_joint_XY=2211;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27038767 chr22_27038767_C_T C T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.618;CADD_Rawscore=-0.140122;CSQ=T|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs760524|2776|1||HGNC|HGNC:48029|||||||||Ensembl||C|C||||chr22:g.27038767C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs760524|1430|1||||||||||||Ensembl||C|C||||chr22:g.27038767C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000363573,ENST00000623814;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914;VEP_SYMBOL=RNU6-1066P,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=33980;gnomADv4_1_AC_joint_XX=17031;gnomADv4_1_AC_joint_XY=16949;gnomADv4_1_AF_grpmax_joint=0.280171;gnomADv4_1_AF_joint=0.223476;gnomADv4_1_AF_joint_XX=0.219099;gnomADv4_1_AF_joint_XY=0.228054;gnomADv4_1_AN_grpmax_joint=67930;gnomADv4_1_AN_joint=152052;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4341;gnomADv4_1_nhomalt_joint_XX=2124;gnomADv4_1_nhomalt_joint_XY=2217;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27038828 chr22_27038828_C_T C T 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.578;CADD_Rawscore=-0.156794;CSQ=T|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs67257945|2837|1||HGNC|HGNC:48029|||||||||Ensembl||C|C||||chr22:g.27038828C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs67257945|1369|1||||||||||||Ensembl||C|C||||chr22:g.27038828C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000363573,ENST00000623814;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914;VEP_SYMBOL=RNU6-1066P,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=29928;gnomADv4_1_AC_joint_XX=15230;gnomADv4_1_AC_joint_XY=14698;gnomADv4_1_AF_grpmax_joint=0.414966;gnomADv4_1_AF_joint=0.196804;gnomADv4_1_AF_joint_XX=0.195904;gnomADv4_1_AF_joint_XY=0.197745;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3553;gnomADv4_1_nhomalt_joint_XX=1772;gnomADv4_1_nhomalt_joint_XY=1781;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27038873 chr22_27038873_C_T C T 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=1.012;CADD_Rawscore=-0.01467;CSQ=T|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs742001|2882|1||HGNC|HGNC:48029|||||||||Ensembl||C|C||||chr22:g.27038873C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs742001|1324|1||||||||||||Ensembl||C|C||||chr22:g.27038873C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000363573,ENST00000623814;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914;VEP_SYMBOL=RNU6-1066P,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=21245;gnomADv4_1_AC_joint_XX=10721;gnomADv4_1_AC_joint_XY=10524;gnomADv4_1_AF_grpmax_joint=0.226364;gnomADv4_1_AF_joint=0.139704;gnomADv4_1_AF_joint_XX=0.137898;gnomADv4_1_AF_joint_XY=0.141592;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1591;gnomADv4_1_nhomalt_joint_XX=808;gnomADv4_1_nhomalt_joint_XY=783;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27039124 chr22_27039124_C_T C T 60 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.643;CADD_Rawscore=-0.130348;CSQ=T|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs742002|3133|1||HGNC|HGNC:48029|||||||||Ensembl||C|C||||chr22:g.27039124C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs742002|1073|1||||||||||||Ensembl||C|C||||chr22:g.27039124C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs742002|4877|1||||||||||||Ensembl||C|C||||chr22:g.27039124C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000363573,ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914,ENSG00000279848;VEP_SYMBOL=RNU6-1066P,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=34895;gnomADv4_1_AC_joint_XX=17499;gnomADv4_1_AC_joint_XY=17396;gnomADv4_1_AF_grpmax_joint=0.293714;gnomADv4_1_AF_joint=0.229485;gnomADv4_1_AF_joint_XX=0.225108;gnomADv4_1_AF_joint_XY=0.234063;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4537;gnomADv4_1_nhomalt_joint_XX=2211;gnomADv4_1_nhomalt_joint_XY=2326;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27039178 chr22_27039178_G_A G A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.022;CADD_Rawscore=-1.02458;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs760525|3187|1||HGNC|HGNC:48029|||||||||Ensembl||G|G||||chr22:g.27039178G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs760525|1019|1||||||||||||Ensembl||G|G||||chr22:g.27039178G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs760525|4823|1||||||||||||Ensembl||G|G||||chr22:g.27039178G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000363573,ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914,ENSG00000279848;VEP_SYMBOL=RNU6-1066P,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=130507;gnomADv4_1_AC_joint_XX=66185;gnomADv4_1_AC_joint_XY=64322;gnomADv4_1_AF_grpmax_joint=0.986084;gnomADv4_1_AF_joint=0.857707;gnomADv4_1_AF_joint_XX=0.851035;gnomADv4_1_AF_joint_XY=0.864682;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56204;gnomADv4_1_nhomalt_joint_XX=28246;gnomADv4_1_nhomalt_joint_XY=27958;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27039615 chr22_27039615_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.602;CADD_Rawscore=-0.146882;CSQ=C|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs760526|3624|1||HGNC|HGNC:48029|||||||||Ensembl||T|T||||chr22:g.27039615T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs760526|582|1||||||||||||Ensembl||T|T||||chr22:g.27039615T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs760526|4386|1||||||||||||Ensembl||T|T||||chr22:g.27039615T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000363573,ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914,ENSG00000279848;VEP_SYMBOL=RNU6-1066P,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=137076;gnomADv4_1_AC_joint_XX=69656;gnomADv4_1_AC_joint_XY=67420;gnomADv4_1_AF_grpmax_joint=0.986095;gnomADv4_1_AF_joint=0.900572;gnomADv4_1_AF_joint_XX=0.895413;gnomADv4_1_AF_joint_XY=0.905964;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152210;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61788;gnomADv4_1_nhomalt_joint_XX=31208;gnomADv4_1_nhomalt_joint_XY=30580;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27039651 chr22_27039651_T_C T C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.023;CADD_Rawscore=-1.0202;CSQ=C|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs16983494|3660|1||HGNC|HGNC:48029|||||||||Ensembl||T|T||||chr22:g.27039651T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs16983494|546|1||||||||||||Ensembl||T|T||||chr22:g.27039651T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs16983494|4350|1||||||||||||Ensembl||T|T||||chr22:g.27039651T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000363573,ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914,ENSG00000279848;VEP_SYMBOL=RNU6-1066P,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=16192;gnomADv4_1_AC_joint_XX=8208;gnomADv4_1_AC_joint_XY=7984;gnomADv4_1_AF_grpmax_joint=0.229054;gnomADv4_1_AF_joint=0.106445;gnomADv4_1_AF_joint_XX=0.105534;gnomADv4_1_AF_joint_XY=0.107398;gnomADv4_1_AN_grpmax_joint=4798;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1139;gnomADv4_1_nhomalt_joint_XX=567;gnomADv4_1_nhomalt_joint_XY=572;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27039858 chr22_27039858_G_A G A 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.571;CADD_Rawscore=0.100217;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs742004|3867|1||HGNC|HGNC:48029|||||||||Ensembl||G|G||||chr22:g.27039858G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs742004|339|1||||||||||||Ensembl||G|G||||chr22:g.27039858G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs742004|4143|1||||||||||||Ensembl||G|G||||chr22:g.27039858G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000363573,ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914,ENSG00000279848;VEP_SYMBOL=RNU6-1066P,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=39608;gnomADv4_1_AC_joint_XX=19782;gnomADv4_1_AC_joint_XY=19826;gnomADv4_1_AF_grpmax_joint=0.344956;gnomADv4_1_AF_joint=0.260346;gnomADv4_1_AF_joint_XX=0.254457;gnomADv4_1_AF_joint_XY=0.2665;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5912;gnomADv4_1_nhomalt_joint_XX=2861;gnomADv4_1_nhomalt_joint_XY=3051;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27039934 chr22_27039934_C_A C A 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.128;CADD_Rawscore=-0.544358;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs9613351|3943|1||HGNC|HGNC:48029|||||||||Ensembl||C|C||||chr22:g.27039934C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs9613351|263|1||||||||||||Ensembl||C|C||||chr22:g.27039934C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs9613351|4067|1||||||||||||Ensembl||C|C||||chr22:g.27039934C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000363573,ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914,ENSG00000279848;VEP_SYMBOL=RNU6-1066P,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=39309;gnomADv4_1_AC_joint_XX=19687;gnomADv4_1_AC_joint_XY=19622;gnomADv4_1_AF_grpmax_joint=0.326252;gnomADv4_1_AF_joint=0.258493;gnomADv4_1_AF_joint_XX=0.253255;gnomADv4_1_AF_joint_XY=0.263971;gnomADv4_1_AN_grpmax_joint=67926;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5788;gnomADv4_1_nhomalt_joint_XX=2822;gnomADv4_1_nhomalt_joint_XY=2966;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27039935 chr22_27039935_A_G A G 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.215;CADD_Rawscore=-0.408497;CSQ=G|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs9608567|3944|1||HGNC|HGNC:48029|||||||||Ensembl||A|A||||chr22:g.27039935A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs9608567|262|1||||||||||||Ensembl||A|A||||chr22:g.27039935A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs9608567|4066|1||||||||||||Ensembl||A|A||||chr22:g.27039935A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000363573,ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914,ENSG00000279848;VEP_SYMBOL=RNU6-1066P,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=39310;gnomADv4_1_AC_joint_XX=19684;gnomADv4_1_AC_joint_XY=19626;gnomADv4_1_AF_grpmax_joint=0.326248;gnomADv4_1_AF_joint=0.258479;gnomADv4_1_AF_joint_XX=0.253223;gnomADv4_1_AF_joint_XY=0.263975;gnomADv4_1_AN_grpmax_joint=67936;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5789;gnomADv4_1_nhomalt_joint_XX=2822;gnomADv4_1_nhomalt_joint_XY=2967;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27040087 chr22_27040087_G_A G A 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.016;CADD_Rawscore=-1.12147;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs9608568|4096|1||HGNC|HGNC:48029|||||||||Ensembl||G|G||||chr22:g.27040087G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs9608568|110|1||||||||||||Ensembl||G|G||||chr22:g.27040087G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs9608568|3914|1||||||||||||Ensembl||G|G||||chr22:g.27040087G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000363573,ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914,ENSG00000279848;VEP_SYMBOL=RNU6-1066P,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=39556;gnomADv4_1_AC_joint_XX=19748;gnomADv4_1_AC_joint_XY=19808;gnomADv4_1_AF_grpmax_joint=0.344634;gnomADv4_1_AF_joint=0.260271;gnomADv4_1_AF_joint_XX=0.254131;gnomADv4_1_AF_joint_XY=0.266695;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=151980;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5898;gnomADv4_1_nhomalt_joint_XX=2851;gnomADv4_1_nhomalt_joint_XY=3047;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27040202 chr22_27040202_A_G A G 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.046;CADD_Rawscore=-0.82214;CSQ=G|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs738157|4211|1||HGNC|HGNC:48029|||||||||Ensembl||A|A||||chr22:g.27040202A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA|1/1||ENST00000623814.1:n.6A>G||6|||||rs738157||1||||||||||||Ensembl||A|A||||chr22:g.27040202A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs738157|3799|1||||||||||||Ensembl||A|A||||chr22:g.27040202A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000363573,ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914,ENSG00000279848;VEP_SYMBOL=RNU6-1066P,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=39351;gnomADv4_1_AC_joint_XX=19695;gnomADv4_1_AC_joint_XY=19656;gnomADv4_1_AF_grpmax_joint=0.326615;gnomADv4_1_AF_joint=0.25865;gnomADv4_1_AF_joint_XX=0.253266;gnomADv4_1_AF_joint_XY=0.264279;gnomADv4_1_AN_grpmax_joint=67970;gnomADv4_1_AN_joint=152140;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5823;gnomADv4_1_nhomalt_joint_XX=2832;gnomADv4_1_nhomalt_joint_XY=2991;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27040327 chr22_27040327_A_G A G 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.771;CADD_Rawscore=-0.084443;CSQ=G|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs738158|4336|1||HGNC|HGNC:48029|||||||||Ensembl||A|A||||chr22:g.27040327A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA|1/1||ENST00000623814.1:n.131A>G||131|||||rs738158||1||||||||||||Ensembl||A|A||||chr22:g.27040327A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs738158|3674|1||||||||||||Ensembl||A|A||||chr22:g.27040327A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000363573,ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914,ENSG00000279848;VEP_SYMBOL=RNU6-1066P,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=39386;gnomADv4_1_AC_joint_XX=19732;gnomADv4_1_AC_joint_XY=19654;gnomADv4_1_AF_grpmax_joint=0.32666;gnomADv4_1_AF_joint=0.258853;gnomADv4_1_AF_joint_XX=0.253696;gnomADv4_1_AF_joint_XY=0.264245;gnomADv4_1_AN_grpmax_joint=67982;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5834;gnomADv4_1_nhomalt_joint_XX=2843;gnomADv4_1_nhomalt_joint_XY=2991;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27040737 chr22_27040737_G_A G A 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.376;CADD_Rawscore=-0.265039;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs55903329|4746|1||HGNC|HGNC:48029|||||||||Ensembl||G|G||||chr22:g.27040737G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA|1/1||ENST00000623814.1:n.541G>A||541|||||rs55903329||1||||||||||||Ensembl||G|G||||chr22:g.27040737G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs55903329|3264|1||||||||||||Ensembl||G|G||||chr22:g.27040737G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000363573,ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914,ENSG00000279848;VEP_SYMBOL=RNU6-1066P,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=29998;gnomADv4_1_AC_joint_XX=15179;gnomADv4_1_AC_joint_XY=14819;gnomADv4_1_AF_grpmax_joint=0.387755;gnomADv4_1_AF_joint=0.197283;gnomADv4_1_AF_joint_XX=0.195314;gnomADv4_1_AF_joint_XY=0.199341;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3544;gnomADv4_1_nhomalt_joint_XX=1750;gnomADv4_1_nhomalt_joint_XY=1794;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27040816 chr22_27040816_T_C T C 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.85;CADD_Rawscore=0.143356;CSQ=C|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs5761918|4825|1||HGNC|HGNC:48029|||||||||Ensembl||T|T||||chr22:g.27040816T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA|1/1||ENST00000623814.1:n.620T>C||620|||||rs5761918||1||||||||||||Ensembl||T|T||||chr22:g.27040816T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs5761918|3185|1||||||||||||Ensembl||T|T||||chr22:g.27040816T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000363573,ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914,ENSG00000279848;VEP_SYMBOL=RNU6-1066P,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=39451;gnomADv4_1_AC_joint_XX=19697;gnomADv4_1_AC_joint_XY=19754;gnomADv4_1_AF_grpmax_joint=0.359316;gnomADv4_1_AF_joint=0.25984;gnomADv4_1_AF_joint_XX=0.253697;gnomADv4_1_AF_joint_XY=0.266269;gnomADv4_1_AN_grpmax_joint=4798;gnomADv4_1_AN_joint=151828;gnomADv4_1_AN_joint_XX=77640;gnomADv4_1_AN_joint_XY=74188;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5892;gnomADv4_1_nhomalt_joint_XX=2845;gnomADv4_1_nhomalt_joint_XY=3047;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27040978 chr22_27040978_A_G A G 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.261;CADD_Rawscore=0.042608;CSQ=G|downstream_gene_variant|MODIFIER|RNU6-1066P|ENSG00000200443|Transcript|ENST00000363573|snRNA||||||||||rs5752470|4987|1||HGNC|HGNC:48029|||||||||Ensembl||A|A||||chr22:g.27040978A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA|1/1||ENST00000623814.1:n.782A>G||782|||||rs5752470||1||||||||||||Ensembl||A|A||||chr22:g.27040978A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs5752470|3023|1||||||||||||Ensembl||A|A||||chr22:g.27040978A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000363573,ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000200443,ENSG00000279914,ENSG00000279848;VEP_SYMBOL=RNU6-1066P,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=39184;gnomADv4_1_AC_joint_XX=19634;gnomADv4_1_AC_joint_XY=19550;gnomADv4_1_AF_grpmax_joint=0.326668;gnomADv4_1_AF_joint=0.25799;gnomADv4_1_AF_joint_XX=0.25282;gnomADv4_1_AF_joint_XY=0.263399;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=151882;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5800;gnomADv4_1_nhomalt_joint_XX=2828;gnomADv4_1_nhomalt_joint_XY=2972;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27041008 chr22_27041009_T_A;chr22_27041008_AT_A AT A 55 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.201;CADDIndel_Rawscore=-0.426008;CSQ=-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA|1/1||ENST00000623814.1:n.813del||813|||||rs59778201||1||||||||||||Ensembl||T|T||||chr22:g.27041009del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs59778201|2992|1||||||||||||Ensembl||T|T||||chr22:g.27041009del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279914,ENSG00000279848;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=38920;gnomADv4_1_AC_joint_XX=19472;gnomADv4_1_AC_joint_XY=19448;gnomADv4_1_AF_grpmax_joint=0.340754;gnomADv4_1_AF_joint=0.281076;gnomADv4_1_AF_joint_XX=0.275675;gnomADv4_1_AF_joint_XY=0.2867;gnomADv4_1_AN_grpmax_joint=64686;gnomADv4_1_AN_joint=138468;gnomADv4_1_AN_joint_XX=70634;gnomADv4_1_AN_joint_XY=67834;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5749;gnomADv4_1_nhomalt_joint_XX=2782;gnomADv4_1_nhomalt_joint_XY=2967;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27041009 chr22_27041009_T_A;chr22_27041008_AT_A T A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.609;CADD_Rawscore=-0.143847;CSQ=A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA|1/1||ENST00000623814.1:n.813T>A||813|||||rs5752471||1||||||||||||Ensembl||T|T||||chr22:g.27041009T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs5752471|2992|1||||||||||||Ensembl||T|T||||chr22:g.27041009T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279914,ENSG00000279848;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=87770;gnomADv4_1_AC_joint_XX=44708;gnomADv4_1_AC_joint_XY=43062;gnomADv4_1_AF_grpmax_joint=0.799546;gnomADv4_1_AF_joint=0.689647;gnomADv4_1_AF_joint_XX=0.68826;gnomADv4_1_AF_joint_XY=0.691093;gnomADv4_1_AN_grpmax_joint=4844;gnomADv4_1_AN_joint=127268;gnomADv4_1_AN_joint_XX=64958;gnomADv4_1_AN_joint_XY=62310;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=25618;gnomADv4_1_nhomalt_joint_XX=13013;gnomADv4_1_nhomalt_joint_XY=12605;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27041010 chr22_27041010_AT_A AT A 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.131;CADDIndel_Rawscore=-0.539529;CSQ=-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA|1/1||ENST00000623814.1:n.815del||815|||||rs199838443||1||||||||||||Ensembl||T|T||||chr22:g.27041011del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs199838443|2990|1||||||||||||Ensembl||T|T||||chr22:g.27041011del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279914,ENSG00000279848;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=38931;gnomADv4_1_AC_joint_XX=19474;gnomADv4_1_AC_joint_XY=19457;gnomADv4_1_AF_grpmax_joint=0.325902;gnomADv4_1_AF_joint=0.270851;gnomADv4_1_AF_joint_XX=0.265719;gnomADv4_1_AF_joint_XY=0.27619;gnomADv4_1_AN_grpmax_joint=67640;gnomADv4_1_AN_joint=143736;gnomADv4_1_AN_joint_XX=73288;gnomADv4_1_AN_joint_XY=70448;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5751;gnomADv4_1_nhomalt_joint_XX=2783;gnomADv4_1_nhomalt_joint_XY=2968;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27041341 chr22_27041341_T_C T C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.528;CADD_Rawscore=0.093051;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA|1/1||ENST00000623814.1:n.1145T>C||1145|||||rs9608569||1||||||||||||Ensembl||T|T||||chr22:g.27041341T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs9608569|2660|1||||||||||||Ensembl||T|T||||chr22:g.27041341T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279914,ENSG00000279848;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=53591;gnomADv4_1_AC_joint_XX=27293;gnomADv4_1_AC_joint_XY=26298;gnomADv4_1_AF_grpmax_joint=0.402027;gnomADv4_1_AF_joint=0.355897;gnomADv4_1_AF_joint_XX=0.353903;gnomADv4_1_AF_joint_XY=0.357991;gnomADv4_1_AN_grpmax_joint=296;gnomADv4_1_AN_joint=150580;gnomADv4_1_AN_joint_XX=77120;gnomADv4_1_AN_joint_XY=73460;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9556;gnomADv4_1_nhomalt_joint_XX=4787;gnomADv4_1_nhomalt_joint_XY=4769;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27041409 chr22_27041409_C_CA C CA 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=1.065;CADDIndel_Rawscore=-0.001428;CSQ=A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA|1/1||ENST00000623814.1:n.1225dup||1213-1214|||||rs35693055||1||||||||||||Ensembl||||||12|chr22:g.27041421dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs35693055|2591|1||||||||||||Ensembl|||||||chr22:g.27041421dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A;VEP_Feature=ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279914,ENSG00000279848;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=31895;gnomADv4_1_AC_joint_XX=16308;gnomADv4_1_AC_joint_XY=15587;gnomADv4_1_AF_grpmax_joint=0.276456;gnomADv4_1_AF_joint=0.238175;gnomADv4_1_AF_joint_XX=0.235155;gnomADv4_1_AF_joint_XY=0.241419;gnomADv4_1_AN_grpmax_joint=4120;gnomADv4_1_AN_joint=133914;gnomADv4_1_AN_joint_XX=69350;gnomADv4_1_AN_joint_XY=64564;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3533;gnomADv4_1_nhomalt_joint_XX=1773;gnomADv4_1_nhomalt_joint_XY=1760;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27041452 chr22_27041452_T_TG T TG 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.427;CADDIndel_Rawscore=-0.232776;CSQ=G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA|1/1||ENST00000623814.1:n.1257dup||1256-1257|||||rs5844733||1||||||||||||Ensembl||||||1|chr22:g.27041453dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs5844733|2548|1||||||||||||Ensembl|||||||chr22:g.27041453dup|||||||||||||;TYPE=INDEL;VEP_Allele=G,G;VEP_Feature=ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279914,ENSG00000279848;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=64850;gnomADv4_1_AC_joint_XX=33200;gnomADv4_1_AC_joint_XY=31650;gnomADv4_1_AF_grpmax_joint=0.527778;gnomADv4_1_AF_joint=0.431769;gnomADv4_1_AF_joint_XX=0.4309;gnomADv4_1_AF_joint_XY=0.432684;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=150196;gnomADv4_1_AN_joint_XX=77048;gnomADv4_1_AN_joint_XY=73148;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=14083;gnomADv4_1_nhomalt_joint_XX=7164;gnomADv4_1_nhomalt_joint_XY=6919;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27041505 chr22_27041505_C_T C T 53 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=6.907;CADD_Rawscore=0.648076;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs9613352|11|1||||||||||||Ensembl||C|C||||chr22:g.27041505C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs9613352|2496|1||||||||||||Ensembl||C|C||||chr22:g.27041505C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279914,ENSG00000279848;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=34105;gnomADv4_1_AC_joint_XX=17314;gnomADv4_1_AC_joint_XY=16791;gnomADv4_1_AF_grpmax_joint=0.27845;gnomADv4_1_AF_joint=0.229222;gnomADv4_1_AF_joint_XX=0.226576;gnomADv4_1_AF_joint_XY=0.232016;gnomADv4_1_AN_grpmax_joint=67574;gnomADv4_1_AN_joint=148786;gnomADv4_1_AN_joint_XX=76416;gnomADv4_1_AN_joint_XY=72370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4249;gnomADv4_1_nhomalt_joint_XX=2110;gnomADv4_1_nhomalt_joint_XY=2139;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27041514 chr22_27041514_CT_C CT C 53 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADDIndel_PHREDscore=0.833;CADDIndel_Rawscore=-0.064668;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs66774182|21|1||||||||||||Ensembl||T|T||||chr22:g.27041527del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs66774182|2486|1||||||||||||Ensembl||T|T||||chr22:g.27041527del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279914,ENSG00000279848;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=51635;gnomADv4_1_AC_joint_XX=26305;gnomADv4_1_AC_joint_XY=25330;gnomADv4_1_AF_grpmax_joint=0.387118;gnomADv4_1_AF_joint=0.353118;gnomADv4_1_AF_joint_XX=0.349884;gnomADv4_1_AF_joint_XY=0.35654;gnomADv4_1_AN_grpmax_joint=4580;gnomADv4_1_AN_joint=146226;gnomADv4_1_AN_joint_XX=75182;gnomADv4_1_AN_joint_XY=71044;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=8882;gnomADv4_1_nhomalt_joint_XX=4451;gnomADv4_1_nhomalt_joint_XY=4431;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27041588 chr22_27041588_G_A G A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=2.993;CADD_Rawscore=0.27385;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs5761920|94|1||||||||||||Ensembl||G|G||||chr22:g.27041588G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs5761920|2413|1||||||||||||Ensembl||G|G||||chr22:g.27041588G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279914,ENSG00000279848;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=41720;gnomADv4_1_AC_joint_XX=21287;gnomADv4_1_AC_joint_XY=20433;gnomADv4_1_AF_grpmax_joint=0.35603;gnomADv4_1_AF_joint=0.275354;gnomADv4_1_AF_joint_XX=0.27465;gnomADv4_1_AF_joint_XY=0.276092;gnomADv4_1_AN_grpmax_joint=41224;gnomADv4_1_AN_joint=151514;gnomADv4_1_AN_joint_XX=77506;gnomADv4_1_AN_joint_XY=74008;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6164;gnomADv4_1_nhomalt_joint_XX=3127;gnomADv4_1_nhomalt_joint_XY=3037;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27042234 chr22_27042234_A_G A G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=7.875;CADD_Rawscore=0.75489;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs1157611|740|1||||||||||||Ensembl||A|A||||chr22:g.27042234A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs1157611|1767|1||||||||||||Ensembl||A|A||||chr22:g.27042234A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279914,ENSG00000279848;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=58653;gnomADv4_1_AC_joint_XX=30204;gnomADv4_1_AC_joint_XY=28449;gnomADv4_1_AF_grpmax_joint=0.510204;gnomADv4_1_AF_joint=0.385956;gnomADv4_1_AF_joint_XX=0.388746;gnomADv4_1_AF_joint_XY=0.383038;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151968;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11632;gnomADv4_1_nhomalt_joint_XX=5980;gnomADv4_1_nhomalt_joint_XY=5652;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27042391 chr22_27042391_T_C T C 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.608;CADD_Rawscore=0.235289;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs1157612|897|1||||||||||||Ensembl||T|T||||chr22:g.27042391T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs1157612|1610|1||||||||||||Ensembl||T|T||||chr22:g.27042391T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279914,ENSG00000279848;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=50316;gnomADv4_1_AC_joint_XX=25835;gnomADv4_1_AC_joint_XY=24481;gnomADv4_1_AF_grpmax_joint=0.489655;gnomADv4_1_AF_joint=0.331118;gnomADv4_1_AF_joint_XX=0.332582;gnomADv4_1_AF_joint_XY=0.329586;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=151958;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8780;gnomADv4_1_nhomalt_joint_XX=4509;gnomADv4_1_nhomalt_joint_XY=4271;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27042397 chr22_27042397_C_A C A 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.397;CADD_Rawscore=-0.25128;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs1157613|903|1||||||||||||Ensembl||C|C||||chr22:g.27042397C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs1157613|1604|1||||||||||||Ensembl||C|C||||chr22:g.27042397C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279914,ENSG00000279848;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=115193;gnomADv4_1_AC_joint_XX=58486;gnomADv4_1_AC_joint_XY=56707;gnomADv4_1_AF_grpmax_joint=0.860387;gnomADv4_1_AF_joint=0.757918;gnomADv4_1_AF_joint_XX=0.752812;gnomADv4_1_AF_joint_XY=0.763258;gnomADv4_1_AN_grpmax_joint=41436;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=43999;gnomADv4_1_nhomalt_joint_XX=22192;gnomADv4_1_nhomalt_joint_XY=21807;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27042424 chr22_27042424_T_C T C 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.169;CADD_Rawscore=-0.470497;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs5761921|930|1||||||||||||Ensembl||T|T||||chr22:g.27042424T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs5761921|1577|1||||||||||||Ensembl||T|T||||chr22:g.27042424T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279914,ENSG00000279848;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=34425;gnomADv4_1_AC_joint_XX=17477;gnomADv4_1_AC_joint_XY=16948;gnomADv4_1_AF_grpmax_joint=0.345455;gnomADv4_1_AF_joint=0.226239;gnomADv4_1_AF_joint_XX=0.22475;gnomADv4_1_AF_joint_XY=0.227796;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4111;gnomADv4_1_nhomalt_joint_XX=2057;gnomADv4_1_nhomalt_joint_XY=2054;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27042470 chr22_27042470_A_G A G 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.147;CADD_Rawscore=-0.508288;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs1157614|976|1||||||||||||Ensembl||A|A||||chr22:g.27042470A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs1157614|1531|1||||||||||||Ensembl||A|A||||chr22:g.27042470A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279914,ENSG00000279848;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=47961;gnomADv4_1_AC_joint_XX=24583;gnomADv4_1_AC_joint_XY=23378;gnomADv4_1_AF_grpmax_joint=0.486395;gnomADv4_1_AF_joint=0.3154;gnomADv4_1_AF_joint_XX=0.316359;gnomADv4_1_AF_joint_XY=0.314398;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7815;gnomADv4_1_nhomalt_joint_XX=4002;gnomADv4_1_nhomalt_joint_XY=3813;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27042641 chr22_27042641_C_A C A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.101;CADD_Rawscore=-0.609713;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs5752473|1147|1||||||||||||Ensembl||C|C||||chr22:g.27042641C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs5752473|1360|1||||||||||||Ensembl||C|C||||chr22:g.27042641C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279914,ENSG00000279848;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=58316;gnomADv4_1_AC_joint_XX=29951;gnomADv4_1_AC_joint_XY=28365;gnomADv4_1_AF_grpmax_joint=0.513605;gnomADv4_1_AF_joint=0.383663;gnomADv4_1_AF_joint_XX=0.385331;gnomADv4_1_AF_joint_XY=0.381917;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11494;gnomADv4_1_nhomalt_joint_XX=5907;gnomADv4_1_nhomalt_joint_XY=5587;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27042669 chr22_27042669_A_G A G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.879;CADD_Rawscore=0.147345;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs5761922|1175|1||||||||||||Ensembl||A|A||||chr22:g.27042669A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs5761922|1332|1||||||||||||Ensembl||A|A||||chr22:g.27042669A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000623814,ENST00000624792;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000279914,ENSG00000279848;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=23736;gnomADv4_1_AC_joint_XX=11977;gnomADv4_1_AC_joint_XY=11759;gnomADv4_1_AF_grpmax_joint=0.276015;gnomADv4_1_AF_joint=0.155951;gnomADv4_1_AF_joint_XX=0.15397;gnomADv4_1_AF_joint_XY=0.158021;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152202;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2018;gnomADv4_1_nhomalt_joint_XX=998;gnomADv4_1_nhomalt_joint_XY=1020;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27043481 chr22_27043481_C_T C T 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=22.1;CADD_Rawscore=3.30688;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs17429199|4663|-1||||1||||||||Ensembl||C|C||||chr22:g.27043481C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs17429199|1987|1||||||||||||Ensembl||C|C||||chr22:g.27043481C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs17429199|520|1||||||||||||Ensembl||C|C||||chr22:g.27043481C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs17429199|4663|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27043481C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=4646;gnomADv4_1_AC_joint_XX=2435;gnomADv4_1_AC_joint_XY=2211;gnomADv4_1_AF_grpmax_joint=0.0646259;gnomADv4_1_AF_joint=0.0305148;gnomADv4_1_AF_joint_XX=0.0312958;gnomADv4_1_AF_joint_XY=0.0296986;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152254;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=117;gnomADv4_1_nhomalt_joint_XX=56;gnomADv4_1_nhomalt_joint_XY=61;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27043581 chr22_27043581_G_A G A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=20.1;CADD_Rawscore=2.73865;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs7285361|4563|-1||||1||||||||Ensembl||G|G||||chr22:g.27043581G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs7285361|2087|1||||||||||||Ensembl||G|G||||chr22:g.27043581G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs7285361|420|1||||||||||||Ensembl||G|G||||chr22:g.27043581G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs7285361|4563|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27043581G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=45623;gnomADv4_1_AC_joint_XX=22818;gnomADv4_1_AC_joint_XY=22805;gnomADv4_1_AF_grpmax_joint=0.543184;gnomADv4_1_AF_joint=0.29984;gnomADv4_1_AF_joint_XX=0.29329;gnomADv4_1_AF_joint_XY=0.306692;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7726;gnomADv4_1_nhomalt_joint_XX=3763;gnomADv4_1_nhomalt_joint_XY=3963;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27043620 chr22_27043620_C_G C G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=23.6;CADD_Rawscore=3.83554;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs5761923|4524|-1||||1||||||||Ensembl||C|C||||chr22:g.27043620C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs5761923|2126|1||||||||||||Ensembl||C|C||||chr22:g.27043620C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs5761923|381|1||||||||||||Ensembl||C|C||||chr22:g.27043620C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs5761923|4524|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27043620C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=23646;gnomADv4_1_AC_joint_XX=11933;gnomADv4_1_AC_joint_XY=11713;gnomADv4_1_AF_grpmax_joint=0.27499;gnomADv4_1_AF_joint=0.155359;gnomADv4_1_AF_joint_XX=0.153377;gnomADv4_1_AF_joint_XY=0.157433;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152202;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2001;gnomADv4_1_nhomalt_joint_XX=993;gnomADv4_1_nhomalt_joint_XY=1008;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27043877 chr22_27043877_TCTCC_T TCTCC T 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=7.383;CADDIndel_Rawscore=0.700093;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs67189447|4263|-1||||1||||||||Ensembl||CTCC|CTCC||||chr22:g.27043880_27043883del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs67189447|2384|1||||||||||||Ensembl||CTCC|CTCC||||chr22:g.27043880_27043883del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs67189447|120|1||||||||||||Ensembl||CTCC|CTCC||||chr22:g.27043880_27043883del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs67189447|4263|-1||EntrezGene||||||||||RefSeq||CTCC|CTCC||||chr22:g.27043880_27043883del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=37762;gnomADv4_1_AC_joint_XX=19313;gnomADv4_1_AC_joint_XY=18449;gnomADv4_1_AF_grpmax_joint=0.44863;gnomADv4_1_AF_joint=0.248542;gnomADv4_1_AF_joint_XX=0.248552;gnomADv4_1_AF_joint_XY=0.248532;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151934;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5017;gnomADv4_1_nhomalt_joint_XX=2576;gnomADv4_1_nhomalt_joint_XY=2441;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27043969 chr22_27043969_CT_C CT C 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.87;CADDIndel_Rawscore=-0.053773;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs36165710|4174|-1||||1||||||||Ensembl||T|T||||chr22:g.27043973del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs36165710|2476|1||||||||||||Ensembl||T|T||||chr22:g.27043973del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs36165710|31|1||||||||||||Ensembl||T|T||||chr22:g.27043973del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs36165710|4174|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27043973del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=40752;gnomADv4_1_AC_joint_XX=20864;gnomADv4_1_AC_joint_XY=19888;gnomADv4_1_AF_grpmax_joint=0.363515;gnomADv4_1_AF_joint=0.269196;gnomADv4_1_AF_joint_XX=0.269331;gnomADv4_1_AF_joint_XY=0.269055;gnomADv4_1_AN_grpmax_joint=41118;gnomADv4_1_AN_joint=151384;gnomADv4_1_AN_joint_XX=77466;gnomADv4_1_AN_joint_XY=73918;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5961;gnomADv4_1_nhomalt_joint_XX=3031;gnomADv4_1_nhomalt_joint_XY=2930;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27044009 chr22_27044009_CCCAT_C CCCAT C 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=3.087;CADDIndel_Rawscore=0.282724;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs145278778|4131|-1||||1||||||||Ensembl||CCAT|CCAT||||chr22:g.27044028_27044031del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs145278778|2516|1||||||||||||Ensembl||CCAT|CCAT||||chr22:g.27044028_27044031del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA|1/1||ENST00000624792.1:n.28_31del||10-13|||||rs145278778||1||||||||||||Ensembl||CCAT|CCAT|||18|chr22:g.27044028_27044031del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs145278778|4131|-1||EntrezGene||||||||||RefSeq||CCAT|CCAT||||chr22:g.27044028_27044031del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=21421;gnomADv4_1_AC_joint_XX=10969;gnomADv4_1_AC_joint_XY=10452;gnomADv4_1_AF_grpmax_joint=0.323908;gnomADv4_1_AF_joint=0.141331;gnomADv4_1_AF_joint_XX=0.141521;gnomADv4_1_AF_joint_XY=0.141133;gnomADv4_1_AN_grpmax_joint=5128;gnomADv4_1_AN_joint=151566;gnomADv4_1_AN_joint_XX=77508;gnomADv4_1_AN_joint_XY=74058;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1759;gnomADv4_1_nhomalt_joint_XX=874;gnomADv4_1_nhomalt_joint_XY=885;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27044061 chr22_27044061_T_TATCC;chr22_27044061_T_TATAC;chr22_27044061_T_TATCCATCC T TATCC 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=1.16;CADDIndel_Rawscore=0.020765;CSQ=ATCC|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs36137993|4082|-1||||1||||||||Ensembl|||||||chr22:g.27044084_27044087dup|||||||||||||,ATCC|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs36137993|2567|1||||||||||||Ensembl|||||||chr22:g.27044084_27044087dup|||||||||||||,ATCC|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA|1/1||ENST00000624792.1:n.84_87dup||61-62|||||rs36137993||1||||||||||||Ensembl||||||26|chr22:g.27044084_27044087dup|||||||||||||,ATCC|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs36137993|4082|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27044084_27044087dup|||||||||||||;TYPE=INDEL;VEP_Allele=ATCC,ATCC,ATCC,ATCC;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=68580;gnomADv4_1_AC_joint_XX=35324;gnomADv4_1_AC_joint_XY=33256;gnomADv4_1_AF_grpmax_joint=0.659667;gnomADv4_1_AF_joint=0.455826;gnomADv4_1_AF_joint_XX=0.458111;gnomADv4_1_AF_joint_XY=0.453425;gnomADv4_1_AN_grpmax_joint=5048;gnomADv4_1_AN_joint=150452;gnomADv4_1_AN_joint_XX=77108;gnomADv4_1_AN_joint_XY=73344;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16451;gnomADv4_1_nhomalt_joint_XX=8516;gnomADv4_1_nhomalt_joint_XY=7935;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27044061 chr22_27044061_T_TATCC;chr22_27044061_T_TATAC;chr22_27044061_T_TATCCATCC T TATAC 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=1.162;CADDIndel_Rawscore=0.021219;CSQ=ATAC|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs1555877804|4082|-1||||1||||||||Ensembl|||||||chr22:g.27044063_27044064insACAT|||||||||||||,ATAC|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs1555877804|2567|1||||||||||||Ensembl|||||||chr22:g.27044063_27044064insACAT|||||||||||||,ATAC|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA|1/1||ENST00000624792.1:n.63_64insACAT||61-62|||||rs1555877804||1||||||||||||Ensembl||||||2|chr22:g.27044063_27044064insACAT|||||||||||||,ATAC|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs1555877804|4082|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27044063_27044064insACAT|||||||||||||;TYPE=INDEL;VEP_Allele=ATAC,ATAC,ATAC,ATAC;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=42089;gnomADv4_1_AC_joint_XX=21565;gnomADv4_1_AC_joint_XY=20524;gnomADv4_1_AF_grpmax_joint=0.465986;gnomADv4_1_AF_joint=0.279101;gnomADv4_1_AF_joint_XX=0.279122;gnomADv4_1_AF_joint_XY=0.279079;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=150802;gnomADv4_1_AN_joint_XX=77260;gnomADv4_1_AN_joint_XY=73542;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5995;gnomADv4_1_nhomalt_joint_XX=3061;gnomADv4_1_nhomalt_joint_XY=2934;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27044061 chr22_27044061_T_TATCC;chr22_27044061_T_TATAC;chr22_27044061_T_TATCCATCC T TATCCATCC 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=1.082;CADDIndel_Rawscore=0.002653;CSQ=ATCCATCC|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs36137993|4082|-1||||1||||||||Ensembl|||||||chr22:g.27044080_27044087dup|||||||||||||,ATCCATCC|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs36137993|2567|1||||||||||||Ensembl|||||||chr22:g.27044080_27044087dup|||||||||||||,ATCCATCC|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA|1/1||ENST00000624792.1:n.80_87dup||61-62|||||rs36137993||1||||||||||||Ensembl||||||26|chr22:g.27044080_27044087dup|||||||||||||,ATCCATCC|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs36137993|4082|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27044080_27044087dup|||||||||||||;TYPE=INDEL;VEP_Allele=ATCCATCC,ATCCATCC,ATCCATCC,ATCCATCC;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=22673;gnomADv4_1_AC_joint_XX=11080;gnomADv4_1_AC_joint_XY=11593;gnomADv4_1_AF_grpmax_joint=0.244672;gnomADv4_1_AF_joint=0.150461;gnomADv4_1_AF_joint_XX=0.14352;gnomADv4_1_AF_joint_XY=0.157754;gnomADv4_1_AN_grpmax_joint=4692;gnomADv4_1_AN_joint=150690;gnomADv4_1_AN_joint_XX=77202;gnomADv4_1_AN_joint_XY=73488;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2041;gnomADv4_1_nhomalt_joint_XX=977;gnomADv4_1_nhomalt_joint_XY=1064;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27044304 chr22_27044304_A_G A G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.217;CADD_Rawscore=0.191373;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs16983522|3840|-1||||1||||||||Ensembl||A|A||||chr22:g.27044304A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs16983522|2810|1||||||||||||Ensembl||A|A||||chr22:g.27044304A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA|1/1||ENST00000624792.1:n.304A>G||304|||||rs16983522||1||||||||||||Ensembl||A|A||||chr22:g.27044304A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs16983522|3840|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27044304A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=25948;gnomADv4_1_AC_joint_XX=13155;gnomADv4_1_AC_joint_XY=12793;gnomADv4_1_AF_grpmax_joint=0.275222;gnomADv4_1_AF_joint=0.170493;gnomADv4_1_AF_joint_XX=0.169079;gnomADv4_1_AF_joint_XY=0.171972;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2361;gnomADv4_1_nhomalt_joint_XX=1179;gnomADv4_1_nhomalt_joint_XY=1182;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27044329 chr22_27044329_T_C T C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=4.158;CADD_Rawscore=0.379302;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs9613353|3815|-1||||1||||||||Ensembl||T|T||||chr22:g.27044329T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs9613353|2835|1||||||||||||Ensembl||T|T||||chr22:g.27044329T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA|1/1||ENST00000624792.1:n.329T>C||329|||||rs9613353||1||||||||||||Ensembl||T|T||||chr22:g.27044329T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs9613353|3815|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27044329T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=42478;gnomADv4_1_AC_joint_XX=21762;gnomADv4_1_AC_joint_XY=20716;gnomADv4_1_AF_grpmax_joint=0.465986;gnomADv4_1_AF_joint=0.279145;gnomADv4_1_AF_joint_XX=0.279782;gnomADv4_1_AF_joint_XY=0.278478;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152172;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6074;gnomADv4_1_nhomalt_joint_XX=3106;gnomADv4_1_nhomalt_joint_XY=2968;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27044364 chr22_27044364_C_T C T 60 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=2.577;CADD_Rawscore=0.231954;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs973902|3780|-1||||1||||||||Ensembl||C|C||||chr22:g.27044364C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs973902|2870|1||||||||||||Ensembl||C|C||||chr22:g.27044364C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA|1/1||ENST00000624792.1:n.364C>T||364|||||rs973902||1||||||||||||Ensembl||C|C||||chr22:g.27044364C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs973902|3780|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27044364C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=94070;gnomADv4_1_AC_joint_XX=47719;gnomADv4_1_AC_joint_XY=46351;gnomADv4_1_AF_grpmax_joint=0.748299;gnomADv4_1_AF_joint=0.618613;gnomADv4_1_AF_joint_XX=0.614002;gnomADv4_1_AF_joint_XY=0.623433;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=29407;gnomADv4_1_nhomalt_joint_XX=14756;gnomADv4_1_nhomalt_joint_XY=14651;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27044574 chr22_27044574_C_A C A 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.191;CADD_Rawscore=-0.438493;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs5761924|3570|-1||||1||||||||Ensembl||C|C||||chr22:g.27044574C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs5761924|3080|1||||||||||||Ensembl||C|C||||chr22:g.27044574C>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA|1/1||ENST00000624792.1:n.574C>A||574|||||rs5761924||1||||||||||||Ensembl||C|C||||chr22:g.27044574C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs5761924|3570|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27044574C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=37928;gnomADv4_1_AC_joint_XX=19274;gnomADv4_1_AC_joint_XY=18654;gnomADv4_1_AF_grpmax_joint=0.340644;gnomADv4_1_AF_joint=0.249418;gnomADv4_1_AF_joint_XX=0.247955;gnomADv4_1_AF_joint_XY=0.250948;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5059;gnomADv4_1_nhomalt_joint_XX=2537;gnomADv4_1_nhomalt_joint_XY=2522;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27044640 chr22_27044640_C_T C T 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.793;CADD_Rawscore=-0.077227;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs12160816|3504|-1||||1||||||||Ensembl||C|C||||chr22:g.27044640C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs12160816|3146|1||||||||||||Ensembl||C|C||||chr22:g.27044640C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA|1/1||ENST00000624792.1:n.640C>T||640|||||rs12160816||1||||||||||||Ensembl||C|C||||chr22:g.27044640C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs12160816|3504|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27044640C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=41299;gnomADv4_1_AC_joint_XX=21033;gnomADv4_1_AC_joint_XY=20266;gnomADv4_1_AF_grpmax_joint=0.363351;gnomADv4_1_AF_joint=0.271668;gnomADv4_1_AF_joint_XX=0.270632;gnomADv4_1_AF_joint_XY=0.272752;gnomADv4_1_AN_grpmax_joint=41420;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6127;gnomADv4_1_nhomalt_joint_XX=3084;gnomADv4_1_nhomalt_joint_XY=3043;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27044703 chr22_27044703_G_GC G GC 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=1.015;CADDIndel_Rawscore=-0.013951;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs5844734|3440|-1||||1||||||||Ensembl|||||||chr22:g.27044704dup|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs5844734|3209|1||||||||||||Ensembl|||||||chr22:g.27044704dup|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA|1/1||ENST00000624792.1:n.704dup||703-704|||||rs5844734||1||||||||||||Ensembl||||||1|chr22:g.27044704dup|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs5844734|3440|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27044704dup|||||||||||||;TYPE=INDEL;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=152355;gnomADv4_1_AC_joint_XX=77854;gnomADv4_1_AC_joint_XY=74501;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999941;gnomADv4_1_AF_joint_XX=0.999974;gnomADv4_1_AF_joint_XY=0.999906;gnomADv4_1_AN_grpmax_joint=68088;gnomADv4_1_AN_joint=152364;gnomADv4_1_AN_joint_XX=77856;gnomADv4_1_AN_joint_XY=74508;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76173;gnomADv4_1_nhomalt_joint_XX=38926;gnomADv4_1_nhomalt_joint_XY=37247;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27044721 chr22_27044721_T_A T A 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=4.836;CADD_Rawscore=0.440602;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs973903|3423|-1||||1||||||||Ensembl||T|T||||chr22:g.27044721T>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs973903|3227|1||||||||||||Ensembl||T|T||||chr22:g.27044721T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA|1/1||ENST00000624792.1:n.721T>A||721|||||rs973903||1||||||||||||Ensembl||T|T||||chr22:g.27044721T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs973903|3423|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27044721T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=94151;gnomADv4_1_AC_joint_XX=47761;gnomADv4_1_AC_joint_XY=46390;gnomADv4_1_AF_grpmax_joint=0.748299;gnomADv4_1_AF_joint=0.618893;gnomADv4_1_AF_joint_XX=0.614179;gnomADv4_1_AF_joint_XY=0.623823;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152128;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=29461;gnomADv4_1_nhomalt_joint_XX=14781;gnomADv4_1_nhomalt_joint_XY=14680;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27045586 chr22_27045586_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=5.887;CADD_Rawscore=0.541839;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs9613354|2558|-1||||1||||||||Ensembl||C|C||||chr22:g.27045586C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs9613354|4092|1||||||||||||Ensembl||C|C||||chr22:g.27045586C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs9613354|271|1||||||||||||Ensembl||C|C||||chr22:g.27045586C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs9613354|2558|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27045586C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DPSM|enhancer||||||||||rs9613354|||||||||||||||||||||chr22:g.27045586C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1,ENSR22_9DPSM;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898,.;VEP_SYMBOL=.,.,.,LOC284898,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=38399;gnomADv4_1_AC_joint_XX=19632;gnomADv4_1_AC_joint_XY=18767;gnomADv4_1_AF_grpmax_joint=0.44898;gnomADv4_1_AF_joint=0.252502;gnomADv4_1_AF_joint_XX=0.252469;gnomADv4_1_AF_joint_XY=0.252537;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5176;gnomADv4_1_nhomalt_joint_XX=2647;gnomADv4_1_nhomalt_joint_XY=2529;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27045827 chr22_27045827_G_A G A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.745;CADD_Rawscore=0.342602;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs713890|2317|-1||||1||||||||Ensembl||G|G||||chr22:g.27045827G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs713890|4333|1||||||||||||Ensembl||G|G||||chr22:g.27045827G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs713890|512|1||||||||||||Ensembl||G|G||||chr22:g.27045827G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs713890|2317|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27045827G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=136212;gnomADv4_1_AC_joint_XX=69191;gnomADv4_1_AC_joint_XY=67021;gnomADv4_1_AF_grpmax_joint=0.999034;gnomADv4_1_AF_joint=0.894437;gnomADv4_1_AF_joint_XX=0.889025;gnomADv4_1_AF_joint_XY=0.900094;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152288;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61005;gnomADv4_1_nhomalt_joint_XX=30791;gnomADv4_1_nhomalt_joint_XY=30214;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27046371 chr22_27046371_T_G T G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=7.615;CADD_Rawscore=0.725823;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs713699|1773|-1||||1||||||||Ensembl||T|T||||chr22:g.27046371T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000279914|Transcript|ENST00000623814|lncRNA||||||||||rs713699|4877|1||||||||||||Ensembl||T|T||||chr22:g.27046371T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs713699|1056|1||||||||||||Ensembl||T|T||||chr22:g.27046371T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs713699|1773|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27046371T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000453934,ENST00000623814,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279914,ENSG00000279848,284898;VEP_SYMBOL=.,.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=93342;gnomADv4_1_AC_joint_XX=47271;gnomADv4_1_AC_joint_XY=46071;gnomADv4_1_AF_grpmax_joint=0.887597;gnomADv4_1_AF_joint=0.613414;gnomADv4_1_AF_joint_XX=0.60769;gnomADv4_1_AF_joint_XY=0.6194;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152168;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=29050;gnomADv4_1_nhomalt_joint_XX=14554;gnomADv4_1_nhomalt_joint_XY=14496;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27046594 chr22_27046594_A_G A G 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=2.696;CADD_Rawscore=0.244351;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs73414458|1550|-1||||1||||||||Ensembl||A|A||||chr22:g.27046594A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs73414458|1279|1||||||||||||Ensembl||A|A||||chr22:g.27046594A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs73414458|1550|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27046594A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000453934,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279848,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=21486;gnomADv4_1_AC_joint_XX=10995;gnomADv4_1_AC_joint_XY=10491;gnomADv4_1_AF_grpmax_joint=0.311223;gnomADv4_1_AF_joint=0.141105;gnomADv4_1_AF_joint_XX=0.141302;gnomADv4_1_AF_joint_XY=0.140898;gnomADv4_1_AN_grpmax_joint=5186;gnomADv4_1_AN_joint=152270;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74458;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1785;gnomADv4_1_nhomalt_joint_XX=885;gnomADv4_1_nhomalt_joint_XY=900;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27046677 chr22_27046677_T_G T G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=6.884;CADD_Rawscore=0.645599;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs5761925|1467|-1||||1||||||||Ensembl||T|T||||chr22:g.27046677T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs5761925|1362|1||||||||||||Ensembl||T|T||||chr22:g.27046677T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs5761925|1467|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27046677T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000453934,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279848,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=37468;gnomADv4_1_AC_joint_XX=19024;gnomADv4_1_AC_joint_XY=18444;gnomADv4_1_AF_grpmax_joint=0.377559;gnomADv4_1_AF_joint=0.24627;gnomADv4_1_AF_joint_XX=0.244682;gnomADv4_1_AF_joint_XY=0.24793;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4895;gnomADv4_1_nhomalt_joint_XX=2467;gnomADv4_1_nhomalt_joint_XY=2428;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27047106 chr22_27047106_G_A G A 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.044;CADD_Rawscore=-0.835379;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs2331364|1038|-1||||1||||||||Ensembl||G|G||||chr22:g.27047106G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs2331364|1791|1||||||||||||Ensembl||G|G||||chr22:g.27047106G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs2331364|1038|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27047106G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000453934,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279848,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=89149;gnomADv4_1_AC_joint_XX=45034;gnomADv4_1_AC_joint_XY=44115;gnomADv4_1_AF_grpmax_joint=0.886012;gnomADv4_1_AF_joint=0.586167;gnomADv4_1_AF_joint_XX=0.579186;gnomADv4_1_AF_joint_XY=0.59347;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=26576;gnomADv4_1_nhomalt_joint_XX=13229;gnomADv4_1_nhomalt_joint_XY=13347;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27047186 chr22_27047186_G_C G C 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.028;CADD_Rawscore=-0.010583;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs2092035|958|-1||||1||||||||Ensembl||G|G||||chr22:g.27047186G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs2092035|1871|1||||||||||||Ensembl||G|G||||chr22:g.27047186G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs2092035|958|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27047186G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000453934,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279848,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=37254;gnomADv4_1_AC_joint_XX=18912;gnomADv4_1_AC_joint_XY=18342;gnomADv4_1_AF_grpmax_joint=0.374855;gnomADv4_1_AF_joint=0.244921;gnomADv4_1_AF_joint_XX=0.243216;gnomADv4_1_AF_joint_XY=0.246705;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152106;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4842;gnomADv4_1_nhomalt_joint_XX=2439;gnomADv4_1_nhomalt_joint_XY=2403;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27047522 chr22_27047522_C_T C T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=7.995;CADD_Rawscore=0.768183;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs713706|622|-1||||1||||||||Ensembl||C|C||||chr22:g.27047522C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs713706|2207|1||||||||||||Ensembl||C|C||||chr22:g.27047522C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs713706|622|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27047522C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000453934,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279848,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=91744;gnomADv4_1_AC_joint_XX=46405;gnomADv4_1_AC_joint_XY=45339;gnomADv4_1_AF_grpmax_joint=0.886002;gnomADv4_1_AF_joint=0.603333;gnomADv4_1_AF_joint_XX=0.597033;gnomADv4_1_AF_joint_XY=0.60992;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=28087;gnomADv4_1_nhomalt_joint_XX=14044;gnomADv4_1_nhomalt_joint_XY=14043;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27047622 chr22_27047622_T_C T C 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.065;CADD_Rawscore=-0.001365;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs713812|522|-1||||1||||||||Ensembl||T|T||||chr22:g.27047622T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs713812|2307|1||||||||||||Ensembl||T|T||||chr22:g.27047622T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs713812|522|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27047622T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000453934,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279848,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=37261;gnomADv4_1_AC_joint_XX=18916;gnomADv4_1_AC_joint_XY=18345;gnomADv4_1_AF_grpmax_joint=0.377033;gnomADv4_1_AF_joint=0.245041;gnomADv4_1_AF_joint_XX=0.243399;gnomADv4_1_AF_joint_XY=0.246758;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152060;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4841;gnomADv4_1_nhomalt_joint_XX=2440;gnomADv4_1_nhomalt_joint_XY=2401;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27048675 chr22_27048675_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.176;CADD_Rawscore=-0.460699;CSQ=A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA|2/2||ENST00000453934.1:n.1852C>T||1852|||||rs738160||-1||||1||||||||Ensembl||G|G||||chr22:g.27048675G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs738160|3360|1||||||||||||Ensembl||G|G||||chr22:g.27048675G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||3/3|NR_164796.1:n.876-195C>T|||||||rs738160||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27048675G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000453934,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279848,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=45454;gnomADv4_1_AC_joint_XX=22758;gnomADv4_1_AC_joint_XY=22696;gnomADv4_1_AF_grpmax_joint=0.507549;gnomADv4_1_AF_joint=0.298941;gnomADv4_1_AF_joint_XX=0.292685;gnomADv4_1_AF_joint_XY=0.305489;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7635;gnomADv4_1_nhomalt_joint_XX=3728;gnomADv4_1_nhomalt_joint_XY=3907;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27048920 chr22_27048920_T_C T C 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.597;CADD_Rawscore=0.234116;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA|2/2||ENST00000453934.1:n.1607A>G||1607|||||rs2007727||-1||||1||||||||Ensembl||T|T||||chr22:g.27048920T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs2007727|3605|1||||||||||||Ensembl||T|T||||chr22:g.27048920T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||3/3|NR_164796.1:n.876-440A>G|||||||rs2007727||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27048920T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000453934,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279848,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=90821;gnomADv4_1_AC_joint_XX=45973;gnomADv4_1_AC_joint_XY=44848;gnomADv4_1_AF_grpmax_joint=0.886047;gnomADv4_1_AF_joint=0.597892;gnomADv4_1_AF_joint_XX=0.59181;gnomADv4_1_AF_joint_XY=0.604258;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151902;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74220;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=27534;gnomADv4_1_nhomalt_joint_XX=13756;gnomADv4_1_nhomalt_joint_XY=13778;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27049475 chr22_27049475_C_A C A 47 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.687;CADD_Rawscore=-0.113638;CSQ=A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA|2/2||ENST00000453934.1:n.1052G>T||1052|||||rs738161||-1||||1||||||||Ensembl||C|C||||chr22:g.27049475C>A|||1||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs738161|4160|1||||||||||||Ensembl||C|C||||chr22:g.27049475C>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||3/3|NR_164796.1:n.875+484G>T|||||||rs738161||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27049475C>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000453934,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279848,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=93180;gnomADv4_1_AC_joint_XX=47188;gnomADv4_1_AC_joint_XY=45992;gnomADv4_1_AF_grpmax_joint=0.886293;gnomADv4_1_AF_joint=0.612704;gnomADv4_1_AF_joint_XX=0.606998;gnomADv4_1_AF_joint_XY=0.618671;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=28937;gnomADv4_1_nhomalt_joint_XX=14478;gnomADv4_1_nhomalt_joint_XY=14459;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27049921 chr22_27049921_C_T C T 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.439;CADD_Rawscore=0.077292;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA|2/2||ENST00000453934.1:n.606G>A||606|||||rs9613355||-1||||1||||||||Ensembl||C|C||||chr22:g.27049921C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000279848|Transcript|ENST00000624792|lncRNA||||||||||rs9613355|4606|1||||||||||||Ensembl||C|C||||chr22:g.27049921C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||3/3|NR_164796.1:n.875+38G>A|||||||rs9613355||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27049921C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000453934,ENST00000624792,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000279848,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=74183;gnomADv4_1_AC_joint_XX=35785;gnomADv4_1_AC_joint_XY=38398;gnomADv4_1_AF_grpmax_joint=0.425738;gnomADv4_1_AF_joint=0.252629;gnomADv4_1_AF_joint_XX=0.252064;gnomADv4_1_AF_joint_XY=0.253158;gnomADv4_1_AN_grpmax_joint=2168;gnomADv4_1_AN_joint=293644;gnomADv4_1_AN_joint_XX=141968;gnomADv4_1_AN_joint_XY=151676;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=10136;gnomADv4_1_nhomalt_joint_XX=4863;gnomADv4_1_nhomalt_joint_XY=5273;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27050362 chr22_27050362_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.024;CADD_Rawscore=-0.999985;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-246G>A|||||||rs6005274||-1||||1||||||||Ensembl||C|C||||chr22:g.27050362C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-246G>A|||||||rs6005274||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27050362C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000453934,NR_164796.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000236858,284898;VEP_SYMBOL=.,LOC284898;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=45242;gnomADv4_1_AC_joint_XX=23210;gnomADv4_1_AC_joint_XY=22032;gnomADv4_1_AF_grpmax_joint=0.414966;gnomADv4_1_AF_joint=0.298139;gnomADv4_1_AF_joint_XX=0.298982;gnomADv4_1_AF_joint_XY=0.297256;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151748;gnomADv4_1_AN_joint_XX=77630;gnomADv4_1_AN_joint_XY=74118;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6861;gnomADv4_1_nhomalt_joint_XX=3486;gnomADv4_1_nhomalt_joint_XY=3375;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27050906 chr22_27050906_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.981;CADD_Rawscore=0.161427;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-790C>T|||||||rs9608571||-1||||1||||||||Ensembl||G|G||||chr22:g.27050906G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-790C>T|||||||rs9608571||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27050906G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000453934,NR_164796.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000236858,284898;VEP_SYMBOL=.,LOC284898;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=38175;gnomADv4_1_AC_joint_XX=19484;gnomADv4_1_AC_joint_XY=18691;gnomADv4_1_AF_grpmax_joint=0.391156;gnomADv4_1_AF_joint=0.250867;gnomADv4_1_AF_joint_XX=0.250514;gnomADv4_1_AF_joint_XY=0.251237;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152172;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5106;gnomADv4_1_nhomalt_joint_XX=2593;gnomADv4_1_nhomalt_joint_XY=2513;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27051117 chr22_27051117_C_T C T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.431;CADD_Rawscore=-0.230593;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-1001G>A|||||||rs5997160||-1||||1||||||||Ensembl||C|C||||chr22:g.27051117C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-1001G>A|||||||rs5997160||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27051117C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000453934,NR_164796.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000236858,284898;VEP_SYMBOL=.,LOC284898;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=42911;gnomADv4_1_AC_joint_XX=21958;gnomADv4_1_AC_joint_XY=20953;gnomADv4_1_AF_grpmax_joint=0.411565;gnomADv4_1_AF_joint=0.28222;gnomADv4_1_AF_joint_XX=0.282425;gnomADv4_1_AF_joint_XY=0.282005;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6157;gnomADv4_1_nhomalt_joint_XX=3115;gnomADv4_1_nhomalt_joint_XY=3042;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27051335 chr22_27051335_C_T C T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.263;CADD_Rawscore=-0.3558;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-1219G>A|||||||rs9613356||-1||||1||||||||Ensembl||C|C||||chr22:g.27051335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-1219G>A|||||||rs9613356||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27051335C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000453934,NR_164796.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000236858,284898;VEP_SYMBOL=.,LOC284898;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=43042;gnomADv4_1_AC_joint_XX=22024;gnomADv4_1_AC_joint_XY=21018;gnomADv4_1_AF_grpmax_joint=0.407534;gnomADv4_1_AF_joint=0.282992;gnomADv4_1_AF_joint_XX=0.283311;gnomADv4_1_AF_joint_XY=0.28266;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6185;gnomADv4_1_nhomalt_joint_XX=3129;gnomADv4_1_nhomalt_joint_XY=3056;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27051416 chr22_27051416_G_A G A 55 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=4.157;CADD_Rawscore=0.379152;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-1300C>T|||||||rs738162||-1||||1||||||||Ensembl||G|G||||chr22:g.27051416G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-1300C>T|||||||rs738162||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27051416G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000453934,NR_164796.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000236858,284898;VEP_SYMBOL=.,LOC284898;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=45478;gnomADv4_1_AC_joint_XX=22758;gnomADv4_1_AC_joint_XY=22720;gnomADv4_1_AF_grpmax_joint=0.508724;gnomADv4_1_AF_joint=0.298934;gnomADv4_1_AF_joint_XX=0.292655;gnomADv4_1_AF_joint_XY=0.3055;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7649;gnomADv4_1_nhomalt_joint_XX=3728;gnomADv4_1_nhomalt_joint_XY=3921;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27051421 chr22_27051421_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.591;CADD_Rawscore=-0.151446;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-1305G>A|||||||rs1997632||-1||||1||||||||Ensembl||C|C||||chr22:g.27051421C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-1305G>A|||||||rs1997632||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27051421C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000453934,NR_164796.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000236858,284898;VEP_SYMBOL=.,LOC284898;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=81019;gnomADv4_1_AC_joint_XX=41272;gnomADv4_1_AC_joint_XY=39747;gnomADv4_1_AF_grpmax_joint=0.612245;gnomADv4_1_AF_joint=0.53283;gnomADv4_1_AF_joint_XX=0.531089;gnomADv4_1_AF_joint_XY=0.534651;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152054;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=21690;gnomADv4_1_nhomalt_joint_XX=11011;gnomADv4_1_nhomalt_joint_XY=10679;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27051569 chr22_27051569_C_T C T 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.147;CADD_Rawscore=-0.508287;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-1453G>A|||||||rs9613357||-1||||1||||||||Ensembl||C|C||||chr22:g.27051569C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-1453G>A|||||||rs9613357||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27051569C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000453934,NR_164796.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000236858,284898;VEP_SYMBOL=.,LOC284898;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=38091;gnomADv4_1_AC_joint_XX=19430;gnomADv4_1_AC_joint_XY=18661;gnomADv4_1_AF_grpmax_joint=0.391156;gnomADv4_1_AF_joint=0.25048;gnomADv4_1_AF_joint_XX=0.25;gnomADv4_1_AF_joint_XY=0.250982;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5085;gnomADv4_1_nhomalt_joint_XX=2580;gnomADv4_1_nhomalt_joint_XY=2505;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27051687 chr22_27051687_T_C T C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.214;CADD_Rawscore=-0.409819;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-1571A>G|||||||rs9613358||-1||||1||||||||Ensembl||T|T||||chr22:g.27051687T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-1571A>G|||||||rs9613358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27051687T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000453934,NR_164796.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000236858,284898;VEP_SYMBOL=.,LOC284898;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=38284;gnomADv4_1_AC_joint_XX=19555;gnomADv4_1_AC_joint_XY=18729;gnomADv4_1_AF_grpmax_joint=0.39726;gnomADv4_1_AF_joint=0.251617;gnomADv4_1_AF_joint_XX=0.251414;gnomADv4_1_AF_joint_XY=0.251829;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5152;gnomADv4_1_nhomalt_joint_XX=2621;gnomADv4_1_nhomalt_joint_XY=2531;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27051707 chr22_27051707_A_G A G 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.471;CADD_Rawscore=0.220552;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-1591T>C|||||||rs6519692||-1||||1||||||||Ensembl||A|A||||chr22:g.27051707A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-1591T>C|||||||rs6519692||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27051707A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000453934,NR_164796.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000236858,284898;VEP_SYMBOL=.,LOC284898;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=45310;gnomADv4_1_AC_joint_XX=22666;gnomADv4_1_AC_joint_XY=22644;gnomADv4_1_AF_grpmax_joint=0.513997;gnomADv4_1_AF_joint=0.297806;gnomADv4_1_AF_joint_XX=0.291479;gnomADv4_1_AF_joint_XY=0.30442;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7597;gnomADv4_1_nhomalt_joint_XX=3695;gnomADv4_1_nhomalt_joint_XY=3902;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27052066 chr22_27052066_T_C T C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.296;CADD_Rawscore=0.049825;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-1950A>G|||||||rs2205644||-1||||1||||||||Ensembl||T|T||||chr22:g.27052066T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-1950A>G|||||||rs2205644||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27052066T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000453934,NR_164796.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000236858,284898;VEP_SYMBOL=.,LOC284898;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=38253;gnomADv4_1_AC_joint_XX=19507;gnomADv4_1_AC_joint_XY=18746;gnomADv4_1_AF_grpmax_joint=0.393103;gnomADv4_1_AF_joint=0.251486;gnomADv4_1_AF_joint_XX=0.25092;gnomADv4_1_AF_joint_XY=0.252078;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=152108;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5134;gnomADv4_1_nhomalt_joint_XX=2604;gnomADv4_1_nhomalt_joint_XY=2530;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27052318 chr22_27052318_C_T C T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.496;CADD_Rawscore=0.223258;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-2202G>A|||||||rs5761929||-1||||1||||||||Ensembl||C|C||||chr22:g.27052318C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-2202G>A|||||||rs5761929||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27052318C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000453934,NR_164796.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000236858,284898;VEP_SYMBOL=.,LOC284898;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=48862;gnomADv4_1_AC_joint_XX=24974;gnomADv4_1_AC_joint_XY=23888;gnomADv4_1_AF_grpmax_joint=0.520751;gnomADv4_1_AF_joint=0.321659;gnomADv4_1_AF_joint_XX=0.321614;gnomADv4_1_AF_joint_XY=0.321707;gnomADv4_1_AN_grpmax_joint=41396;gnomADv4_1_AN_joint=151906;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9335;gnomADv4_1_nhomalt_joint_XX=4819;gnomADv4_1_nhomalt_joint_XY=4516;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27052682 chr22_27052682_T_C T C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.307;CADD_Rawscore=-0.315757;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-2566A>G|||||||rs67433206||-1||||1||||||||Ensembl||T|T||||chr22:g.27052682T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs67433206|4828|-1||||||||||||Ensembl||T|T||||chr22:g.27052682T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-2566A>G|||||||rs67433206||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27052682T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=45275;gnomADv4_1_AC_joint_XX=22699;gnomADv4_1_AC_joint_XY=22576;gnomADv4_1_AF_grpmax_joint=0.506809;gnomADv4_1_AF_joint=0.298384;gnomADv4_1_AF_joint_XX=0.292438;gnomADv4_1_AF_joint_XY=0.304612;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151734;gnomADv4_1_AN_joint_XX=77620;gnomADv4_1_AN_joint_XY=74114;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7591;gnomADv4_1_nhomalt_joint_XX=3716;gnomADv4_1_nhomalt_joint_XY=3875;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27053062 chr22_27053062_C_A C A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.105;CADD_Rawscore=-0.598419;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-2946G>T|||||||rs5761930||-1||||1||||||||Ensembl||C|C||||chr22:g.27053062C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs5761930|4448|-1||||||||||||Ensembl||C|C||||chr22:g.27053062C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-2946G>T|||||||rs5761930||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27053062C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=134200;gnomADv4_1_AC_joint_XX=68229;gnomADv4_1_AC_joint_XY=65971;gnomADv4_1_AF_grpmax_joint=0.998629;gnomADv4_1_AF_joint=0.882848;gnomADv4_1_AF_joint_XX=0.877882;gnomADv4_1_AF_joint_XY=0.888044;gnomADv4_1_AN_grpmax_joint=5104;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=59288;gnomADv4_1_nhomalt_joint_XX=29945;gnomADv4_1_nhomalt_joint_XY=29343;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27053401 chr22_27053401_A_G A G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.111;CADD_Rawscore=-0.584052;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-3285T>C|||||||rs5761931||-1||||1||||||||Ensembl||A|A||||chr22:g.27053401A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs5761931|4109|-1||||||||||||Ensembl||A|A||||chr22:g.27053401A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-3285T>C|||||||rs5761931||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27053401A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=26107;gnomADv4_1_AC_joint_XX=13276;gnomADv4_1_AC_joint_XY=12831;gnomADv4_1_AF_grpmax_joint=0.306368;gnomADv4_1_AF_joint=0.174739;gnomADv4_1_AF_joint_XX=0.17323;gnomADv4_1_AF_joint_XY=0.176328;gnomADv4_1_AN_grpmax_joint=4994;gnomADv4_1_AN_joint=149406;gnomADv4_1_AN_joint_XX=76638;gnomADv4_1_AN_joint_XY=72768;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2448;gnomADv4_1_nhomalt_joint_XX=1229;gnomADv4_1_nhomalt_joint_XY=1219;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27053525 chr22_27053525_TTCTC_T TTCTC T 22 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=22;CADDIndel_PHREDscore=0.792;CADDIndel_Rawscore=-0.07781;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-3413_411-3410del|||||||rs1184773011||-1||||1||||||||Ensembl||TCTC|TCTC||||chr22:g.27053565_27053568del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs1184773011|3981|-1||||||||||||Ensembl||TCTC|TCTC||||chr22:g.27053565_27053568del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-3413_718-3410del|||||||rs1184773011||-1||EntrezGene||||||||||RefSeq||TCTC|TCTC||||chr22:g.27053565_27053568del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=324;gnomADv4_1_AC_joint_XX=177;gnomADv4_1_AC_joint_XY=147;gnomADv4_1_AF_grpmax_joint=0.00578276;gnomADv4_1_AF_joint=0.00469797;gnomADv4_1_AF_joint_XX=0.00479129;gnomADv4_1_AF_joint_XY=0.00459031;gnomADv4_1_AN_grpmax_joint=33548;gnomADv4_1_AN_joint=68966;gnomADv4_1_AN_joint_XX=36942;gnomADv4_1_AN_joint_XY=32024;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27053539 chr22_27053539_C_T C T 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=11;CADD_PHREDscore=2.974;CADD_Rawscore=0.272006;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-3423G>A|||||||rs5761933||-1||||1||||||||Ensembl||C|C||||chr22:g.27053539C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs5761933|3971|-1||||||||||||Ensembl||C|C||||chr22:g.27053539C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-3423G>A|||||||rs5761933||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27053539C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=3772;gnomADv4_1_AC_joint_XX=1998;gnomADv4_1_AC_joint_XY=1774;gnomADv4_1_AF_grpmax_joint=0.243833;gnomADv4_1_AF_joint=0.112356;gnomADv4_1_AF_joint_XX=0.108493;gnomADv4_1_AF_joint_XY=0.117049;gnomADv4_1_AN_grpmax_joint=9162;gnomADv4_1_AN_joint=33572;gnomADv4_1_AN_joint_XX=18416;gnomADv4_1_AN_joint_XY=15156;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=150;gnomADv4_1_nhomalt_joint_XX=71;gnomADv4_1_nhomalt_joint_XY=79;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27053567 chr22_27053567_C_CTCTCTATA C CTCTCTATA 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=19;CADDIndel_PHREDscore=0.851;CADDIndel_Rawscore=-0.059453;CSQ=TCTCTATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-3452_411-3451insTATAGAGA|||||||rs1568958029||-1||||1||||||||Ensembl|||||||chr22:g.27053568_27053569insCTCTATAT|||||||||||||,TCTCTATA|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs1568958029|3942|-1||||||||||||Ensembl|||||||chr22:g.27053568_27053569insCTCTATAT|||||||||||||,TCTCTATA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-3452_718-3451insTATAGAGA|||||||rs1568958029||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27053568_27053569insCTCTATAT|||||||||||||;TYPE=INDEL;VEP_Allele=TCTCTATA,TCTCTATA,TCTCTATA;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=8;gnomADv4_1_AC_joint_XX=5;gnomADv4_1_AC_joint_XY=3;gnomADv4_1_AF_grpmax_joint=0.000471143;gnomADv4_1_AF_joint=0.000275957;gnomADv4_1_AF_joint_XX=0.0003111;gnomADv4_1_AF_joint_XY=0.000232234;gnomADv4_1_AN_grpmax_joint=8490;gnomADv4_1_AN_joint=28990;gnomADv4_1_AN_joint_XX=16072;gnomADv4_1_AN_joint_XY=12918;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27053602 chr22_27053602_TATATATATAA_T TATATATATAA T 16 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=16;CADDIndel_PHREDscore=0.67;CADDIndel_Rawscore=-0.119815;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-3496_411-3487del|||||||rs1253007127||-1||||1||||||||Ensembl||ATATATATAA|ATATATATAA||||chr22:g.27053604_27053613del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs1253007127|3898|-1||||||||||||Ensembl||ATATATATAA|ATATATATAA||||chr22:g.27053604_27053613del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-3496_718-3487del|||||||rs1253007127||-1||EntrezGene||||||||||RefSeq||ATATATATAA|ATATATATAA||||chr22:g.27053604_27053613del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=927;gnomADv4_1_AC_joint_XX=487;gnomADv4_1_AC_joint_XY=440;gnomADv4_1_AF_grpmax_joint=0.0215947;gnomADv4_1_AF_joint=0.0119823;gnomADv4_1_AF_joint_XX=0.0117633;gnomADv4_1_AF_joint_XY=0.0122345;gnomADv4_1_AN_grpmax_joint=2408;gnomADv4_1_AN_joint=77364;gnomADv4_1_AN_joint_XX=41400;gnomADv4_1_AN_joint_XY=35964;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27053808 chr22_27053808_G_A G A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.245;CADD_Rawscore=-0.374134;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-3692C>T|||||||rs7291811||-1||||1||||||||Ensembl||G|G||||chr22:g.27053808G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs7291811|3702|-1||||||||||||Ensembl||G|G||||chr22:g.27053808G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-3692C>T|||||||rs7291811||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27053808G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=135798;gnomADv4_1_AC_joint_XX=69075;gnomADv4_1_AC_joint_XY=66723;gnomADv4_1_AF_grpmax_joint=0.999027;gnomADv4_1_AF_joint=0.897091;gnomADv4_1_AF_joint_XX=0.891866;gnomADv4_1_AF_joint_XY=0.902565;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=151376;gnomADv4_1_AN_joint_XX=77450;gnomADv4_1_AN_joint_XY=73926;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=60983;gnomADv4_1_nhomalt_joint_XX=30819;gnomADv4_1_nhomalt_joint_XY=30164;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27053930 chr22_27053930_A_G A G 62 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=62;CADD_PHREDscore=2.034;CADD_Rawscore=0.16843;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-3814T>C|||||||rs6519693||-1||||1||||||||Ensembl||A|A||||chr22:g.27053930A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs6519693|3580|-1||||||||||||Ensembl||A|A||||chr22:g.27053930A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-3814T>C|||||||rs6519693||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27053930A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=135592;gnomADv4_1_AC_joint_XX=68924;gnomADv4_1_AC_joint_XY=66668;gnomADv4_1_AF_grpmax_joint=0.998826;gnomADv4_1_AF_joint=0.893275;gnomADv4_1_AF_joint_XX=0.887601;gnomADv4_1_AF_joint_XY=0.899218;gnomADv4_1_AN_grpmax_joint=5112;gnomADv4_1_AN_joint=151792;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74140;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=60627;gnomADv4_1_nhomalt_joint_XX=30604;gnomADv4_1_nhomalt_joint_XY=30023;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27053978 chr22_27053978_A_G A G 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.564;CADD_Rawscore=0.099101;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-3862T>C|||||||rs2877348||-1||||1||||||||Ensembl||A|A||||chr22:g.27053978A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs2877348|3532|-1||||||||||||Ensembl||A|A||||chr22:g.27053978A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-3862T>C|||||||rs2877348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27053978A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=43204;gnomADv4_1_AC_joint_XX=22067;gnomADv4_1_AC_joint_XY=21137;gnomADv4_1_AF_grpmax_joint=0.399331;gnomADv4_1_AF_joint=0.285085;gnomADv4_1_AF_joint_XX=0.284684;gnomADv4_1_AF_joint_XY=0.285504;gnomADv4_1_AN_grpmax_joint=41264;gnomADv4_1_AN_joint=151548;gnomADv4_1_AN_joint_XX=77514;gnomADv4_1_AN_joint_XY=74034;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6791;gnomADv4_1_nhomalt_joint_XX=3476;gnomADv4_1_nhomalt_joint_XY=3315;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27054499 chr22_27054499_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.428;CADD_Rawscore=-0.232243;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-4383C>T|||||||rs8137856||-1||||1||||||||Ensembl||G|G||||chr22:g.27054499G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs8137856|3011|-1||||||||||||Ensembl||G|G||||chr22:g.27054499G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-4383C>T|||||||rs8137856||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27054499G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=38244;gnomADv4_1_AC_joint_XX=19512;gnomADv4_1_AC_joint_XY=18732;gnomADv4_1_AF_grpmax_joint=0.393836;gnomADv4_1_AF_joint=0.251473;gnomADv4_1_AF_joint_XX=0.250978;gnomADv4_1_AF_joint_XY=0.251991;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5134;gnomADv4_1_nhomalt_joint_XX=2609;gnomADv4_1_nhomalt_joint_XY=2525;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27054548 chr22_27054548_T_A T A 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.083;CADD_Rawscore=-0.661848;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-4432A>T|||||||rs4820729||-1||||1||||||||Ensembl||T|T||||chr22:g.27054548T>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs4820729|2962|-1||||||||||||Ensembl||T|T||||chr22:g.27054548T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-4432A>T|||||||rs4820729||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27054548T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=45273;gnomADv4_1_AC_joint_XX=22681;gnomADv4_1_AC_joint_XY=22592;gnomADv4_1_AF_grpmax_joint=0.511025;gnomADv4_1_AF_joint=0.297563;gnomADv4_1_AF_joint_XX=0.291597;gnomADv4_1_AF_joint_XY=0.303803;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7586;gnomADv4_1_nhomalt_joint_XX=3707;gnomADv4_1_nhomalt_joint_XY=3879;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27054620 chr22_27054620_G_C G C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.403;CADD_Rawscore=-0.247264;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-4504C>G|||||||rs8137985||-1||||1||||||||Ensembl||G|G||||chr22:g.27054620G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs8137985|2890|-1||||||||||||Ensembl||G|G||||chr22:g.27054620G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-4504C>G|||||||rs8137985||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27054620G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=38262;gnomADv4_1_AC_joint_XX=19519;gnomADv4_1_AC_joint_XY=18743;gnomADv4_1_AF_grpmax_joint=0.394558;gnomADv4_1_AF_joint=0.251561;gnomADv4_1_AF_joint_XX=0.251003;gnomADv4_1_AF_joint_XY=0.252146;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5140;gnomADv4_1_nhomalt_joint_XX=2608;gnomADv4_1_nhomalt_joint_XY=2532;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27055093 chr22_27055093_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.155;CADD_Rawscore=-0.49488;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.411-4977G>A|||||||rs56123815||-1||||1||||||||Ensembl||C|C||||chr22:g.27055093C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs56123815|2417|-1||||||||||||Ensembl||C|C||||chr22:g.27055093C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.718-4977G>A|||||||rs56123815||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27055093C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=45218;gnomADv4_1_AC_joint_XX=22656;gnomADv4_1_AC_joint_XY=22562;gnomADv4_1_AF_grpmax_joint=0.5107;gnomADv4_1_AF_joint=0.29762;gnomADv4_1_AF_joint_XX=0.291703;gnomADv4_1_AF_joint_XY=0.303808;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151932;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7571;gnomADv4_1_nhomalt_joint_XX=3701;gnomADv4_1_nhomalt_joint_XY=3870;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27055218 chr22_27055218_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.544;CADD_Rawscore=0.095672;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.410+4891G>A|||||||rs5752474||-1||||1||||||||Ensembl||C|C||||chr22:g.27055218C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs5752474|2292|-1||||||||||||Ensembl||C|C||||chr22:g.27055218C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.717+4891G>A|||||||rs5752474||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27055218C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=26634;gnomADv4_1_AC_joint_XX=13470;gnomADv4_1_AC_joint_XY=13164;gnomADv4_1_AF_grpmax_joint=0.309459;gnomADv4_1_AF_joint=0.175079;gnomADv4_1_AF_joint_XX=0.173216;gnomADv4_1_AF_joint_XY=0.177026;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2514;gnomADv4_1_nhomalt_joint_XX=1255;gnomADv4_1_nhomalt_joint_XY=1259;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27055304 chr22_27055304_A_G A G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=8.674;CADD_Rawscore=0.840594;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.410+4805T>C|||||||rs35558869||-1||||1||||||||Ensembl||A|A||||chr22:g.27055304A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs35558869|2206|-1||||||||||||Ensembl||A|A||||chr22:g.27055304A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.717+4805T>C|||||||rs35558869||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27055304A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=19652;gnomADv4_1_AC_joint_XX=10231;gnomADv4_1_AC_joint_XY=9421;gnomADv4_1_AF_grpmax_joint=0.210884;gnomADv4_1_AF_joint=0.129065;gnomADv4_1_AF_joint_XX=0.131473;gnomADv4_1_AF_joint_XY=0.126548;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152264;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1641;gnomADv4_1_nhomalt_joint_XX=861;gnomADv4_1_nhomalt_joint_XY=780;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27055539 chr22_27055539_T_C T C 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=4.259;CADD_Rawscore=0.388233;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.410+4570A>G|||||||rs4822837||-1||||1||||||||Ensembl||T|T||||chr22:g.27055539T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs4822837|1971|-1||||||||||||Ensembl||T|T||||chr22:g.27055539T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.717+4570A>G|||||||rs4822837||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27055539T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=45322;gnomADv4_1_AC_joint_XX=22703;gnomADv4_1_AC_joint_XY=22619;gnomADv4_1_AF_grpmax_joint=0.511434;gnomADv4_1_AF_joint=0.297897;gnomADv4_1_AF_joint_XX=0.291887;gnomADv4_1_AF_joint_XY=0.304182;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152140;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7600;gnomADv4_1_nhomalt_joint_XX=3714;gnomADv4_1_nhomalt_joint_XY=3886;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27055605 chr22_27055605_G_A G A 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.001;CADD_Rawscore=-2.24619;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.410+4504C>T|||||||rs4820730||-1||||1||||||||Ensembl||G|G||||chr22:g.27055605G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs4820730|1905|-1||||||||||||Ensembl||G|G||||chr22:g.27055605G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.717+4504C>T|||||||rs4820730||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27055605G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=45288;gnomADv4_1_AC_joint_XX=22702;gnomADv4_1_AC_joint_XY=22586;gnomADv4_1_AF_grpmax_joint=0.508734;gnomADv4_1_AF_joint=0.297904;gnomADv4_1_AF_joint_XX=0.29204;gnomADv4_1_AF_joint_XY=0.304041;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7591;gnomADv4_1_nhomalt_joint_XX=3716;gnomADv4_1_nhomalt_joint_XY=3875;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27056269 chr22_27056269_A_AT;chr22_27056269_AT_A A AT 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.435;CADDIndel_Rawscore=-0.228317;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.410+3839dup|||||||rs35174353||-1||||1||||||||Ensembl|||||||chr22:g.27056281dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs35174353|1240|-1||||||||||||Ensembl|||||||chr22:g.27056281dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.717+3839dup|||||||rs35174353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27056281dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=40982;gnomADv4_1_AC_joint_XX=20775;gnomADv4_1_AC_joint_XY=20207;gnomADv4_1_AF_grpmax_joint=0.506185;gnomADv4_1_AF_joint=0.277727;gnomADv4_1_AF_joint_XX=0.273816;gnomADv4_1_AF_joint_XY=0.281866;gnomADv4_1_AN_grpmax_joint=5012;gnomADv4_1_AN_joint=147562;gnomADv4_1_AN_joint_XX=75872;gnomADv4_1_AN_joint_XY=71690;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6233;gnomADv4_1_nhomalt_joint_XX=3082;gnomADv4_1_nhomalt_joint_XY=3151;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27056269 chr22_27056269_A_AT;chr22_27056269_AT_A AT A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.315;CADDIndel_Rawscore=-0.309787;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.410+3839del|||||||rs35174353||-1||||1||||||||Ensembl||T|T||||chr22:g.27056281del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs35174353|1240|-1||||||||||||Ensembl||T|T||||chr22:g.27056281del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.717+3839del|||||||rs35174353||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27056281del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=44351;gnomADv4_1_AC_joint_XX=22771;gnomADv4_1_AC_joint_XY=21580;gnomADv4_1_AF_grpmax_joint=0.445019;gnomADv4_1_AF_joint=0.30051;gnomADv4_1_AF_joint_XX=0.3001;gnomADv4_1_AF_joint_XY=0.300943;gnomADv4_1_AN_grpmax_joint=40214;gnomADv4_1_AN_joint=147586;gnomADv4_1_AN_joint_XX=75878;gnomADv4_1_AN_joint_XY=71708;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7397;gnomADv4_1_nhomalt_joint_XX=3826;gnomADv4_1_nhomalt_joint_XY=3571;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27056759 chr22_27056759_G_A G A 62 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=62;CADD_PHREDscore=0.08;CADD_Rawscore=-0.671644;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.410+3350C>T|||||||rs2331365||-1||||1||||||||Ensembl||G|G||||chr22:g.27056759G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs2331365|751|-1||||||||||||Ensembl||G|G||||chr22:g.27056759G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.717+3350C>T|||||||rs2331365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27056759G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=136413;gnomADv4_1_AC_joint_XX=69313;gnomADv4_1_AC_joint_XY=67100;gnomADv4_1_AF_grpmax_joint=0.999034;gnomADv4_1_AF_joint=0.896039;gnomADv4_1_AF_joint_XX=0.890867;gnomADv4_1_AF_joint_XY=0.901446;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152240;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61185;gnomADv4_1_nhomalt_joint_XX=30889;gnomADv4_1_nhomalt_joint_XY=30296;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27056781 chr22_27056781_A_G A G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=4.587;CADD_Rawscore=0.417777;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.410+3328T>C|||||||rs35399009||-1||||1||||||||Ensembl||A|A||||chr22:g.27056781A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs35399009|729|-1||||||||||||Ensembl||A|A||||chr22:g.27056781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.717+3328T>C|||||||rs35399009||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27056781A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=48784;gnomADv4_1_AC_joint_XX=24529;gnomADv4_1_AC_joint_XY=24255;gnomADv4_1_AF_grpmax_joint=0.511826;gnomADv4_1_AF_joint=0.320732;gnomADv4_1_AF_joint_XX=0.315453;gnomADv4_1_AF_joint_XY=0.326254;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8255;gnomADv4_1_nhomalt_joint_XX=4044;gnomADv4_1_nhomalt_joint_XY=4211;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27057809 chr22_27057809_A_G A G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=3.999;CADD_Rawscore=0.36514;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.410+2300T>C|||||||rs9613360||-1||||1||||||||Ensembl||A|A||||chr22:g.27057809A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA|3/3||ENST00000658755.2:n.901T>C||901|||||rs9613360||-1||||||||||||Ensembl||A|A||||chr22:g.27057809A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.717+2300T>C|||||||rs9613360||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27057809A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=38125;gnomADv4_1_AC_joint_XX=19459;gnomADv4_1_AC_joint_XY=18666;gnomADv4_1_AF_grpmax_joint=0.391156;gnomADv4_1_AF_joint=0.250588;gnomADv4_1_AF_joint_XX=0.250206;gnomADv4_1_AF_joint_XY=0.250988;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5091;gnomADv4_1_nhomalt_joint_XX=2586;gnomADv4_1_nhomalt_joint_XY=2505;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27058060 chr22_27058060_C_A C A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.283;CADD_Rawscore=-0.337307;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.410+2049G>T|||||||rs9613361||-1||||1||||||||Ensembl||C|C||||chr22:g.27058060C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||2/2|ENST00000658755.2:n.691-41G>T|||||||rs9613361||-1||||||||||||Ensembl||C|C||||chr22:g.27058060C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.717+2049G>T|||||||rs9613361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27058060C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=37909;gnomADv4_1_AC_joint_XX=19374;gnomADv4_1_AC_joint_XY=18535;gnomADv4_1_AF_grpmax_joint=0.391156;gnomADv4_1_AF_joint=0.249372;gnomADv4_1_AF_joint_XX=0.249241;gnomADv4_1_AF_joint_XY=0.249509;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5033;gnomADv4_1_nhomalt_joint_XX=2558;gnomADv4_1_nhomalt_joint_XY=2475;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27059019 chr22_27059019_T_C T C 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.003;CADD_Rawscore=-1.64619;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.410+1090A>G|||||||rs16983560||-1||||1||||||||Ensembl||T|T||||chr22:g.27059019T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||2/2|ENST00000658755.2:n.691-1000A>G|||||||rs16983560||-1||||||||||||Ensembl||T|T||||chr22:g.27059019T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.717+1090A>G|||||||rs16983560||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27059019T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=21599;gnomADv4_1_AC_joint_XX=10998;gnomADv4_1_AC_joint_XY=10601;gnomADv4_1_AF_grpmax_joint=0.335397;gnomADv4_1_AF_joint=0.141873;gnomADv4_1_AF_joint_XX=0.141333;gnomADv4_1_AF_joint_XY=0.142437;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152242;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1817;gnomADv4_1_nhomalt_joint_XX=890;gnomADv4_1_nhomalt_joint_XY=927;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27059393 chr22_27059393_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.445;CADD_Rawscore=-0.22239;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.410+716G>A|||||||rs724294||-1||||1||||||||Ensembl||C|C||||chr22:g.27059393C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||2/2|ENST00000658755.2:n.690+716G>A|||||||rs724294||-1||||||||||||Ensembl||C|C||||chr22:g.27059393C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.717+716G>A|||||||rs724294||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27059393C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=45303;gnomADv4_1_AC_joint_XX=22673;gnomADv4_1_AC_joint_XY=22630;gnomADv4_1_AF_grpmax_joint=0.509857;gnomADv4_1_AF_joint=0.297995;gnomADv4_1_AF_joint_XX=0.291749;gnomADv4_1_AF_joint_XY=0.304527;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152026;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7592;gnomADv4_1_nhomalt_joint_XX=3700;gnomADv4_1_nhomalt_joint_XY=3892;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27059447 chr22_27059447_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.527;CADD_Rawscore=-0.180207;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||1/1|ENST00000453934.1:n.410+662C>T|||||||rs763788||-1||||1||||||||Ensembl||G|G||||chr22:g.27059447G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||2/2|ENST00000658755.2:n.690+662C>T|||||||rs763788||-1||||||||||||Ensembl||G|G||||chr22:g.27059447G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||2/3|NR_164796.1:n.717+662C>T|||||||rs763788||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27059447G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=37962;gnomADv4_1_AC_joint_XX=19406;gnomADv4_1_AC_joint_XY=18556;gnomADv4_1_AF_grpmax_joint=0.394558;gnomADv4_1_AF_joint=0.249612;gnomADv4_1_AF_joint_XX=0.249627;gnomADv4_1_AF_joint_XY=0.249596;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5051;gnomADv4_1_nhomalt_joint_XX=2571;gnomADv4_1_nhomalt_joint_XY=2480;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27060448 chr22_27060448_A_G A G 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=16.82;CADD_Rawscore=2.01374;CSQ=G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA|1/2||ENST00000453934.1:n.71T>C||71|||||rs61744687||-1||||1||||||||Ensembl||A|A||||chr22:g.27060448A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA|2/3||ENST00000658755.2:n.351T>C||351|||||rs61744687||-1||||||||||||Ensembl||A|A||||chr22:g.27060448A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA|2/4||NR_164796.1:n.378T>C||378|||||rs61744687||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27060448A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=128491;gnomADv4_1_AC_joint_XX=59038;gnomADv4_1_AC_joint_XY=69453;gnomADv4_1_AF_grpmax_joint=0.529891;gnomADv4_1_AF_joint=0.337953;gnomADv4_1_AF_joint_XX=0.328972;gnomADv4_1_AF_joint_XY=0.345981;gnomADv4_1_AN_grpmax_joint=13616;gnomADv4_1_AN_joint=380204;gnomADv4_1_AN_joint_XX=179462;gnomADv4_1_AN_joint_XY=200742;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23392;gnomADv4_1_nhomalt_joint_XX=10475;gnomADv4_1_nhomalt_joint_XY=12917;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27060458 chr22_27060458_T_C T C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=17.97;CADD_Rawscore=2.2664;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA|1/2||ENST00000453934.1:n.61A>G||61|||||rs55944208||-1||||1||||||||Ensembl||T|T||||chr22:g.27060458T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA|2/3||ENST00000658755.2:n.341A>G||341|||||rs55944208||-1||||||||||||Ensembl||T|T||||chr22:g.27060458T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA|2/4||NR_164796.1:n.368A>G||368|||||rs55944208||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27060458T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=126704;gnomADv4_1_AC_joint_XX=58431;gnomADv4_1_AC_joint_XY=68273;gnomADv4_1_AF_grpmax_joint=0.529953;gnomADv4_1_AF_joint=0.337641;gnomADv4_1_AF_joint_XX=0.328733;gnomADv4_1_AF_joint_XY=0.345658;gnomADv4_1_AN_grpmax_joint=13588;gnomADv4_1_AN_joint=375262;gnomADv4_1_AN_joint_XX=177746;gnomADv4_1_AN_joint_XY=197516;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23006;gnomADv4_1_nhomalt_joint_XX=10344;gnomADv4_1_nhomalt_joint_XY=12662;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27060684 chr22_27060684_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.145;CADD_Rawscore=0.288194;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs67821366|166|-1||||1||||||||Ensembl||G|G||||chr22:g.27060684G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||1/2|ENST00000658755.2:n.261-146C>T|||||||rs67821366||-1||||||||||||Ensembl||G|G||||chr22:g.27060684G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||1/3|NR_164796.1:n.252-110C>T|||||||rs67821366||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27060684G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=45145;gnomADv4_1_AC_joint_XX=22609;gnomADv4_1_AC_joint_XY=22536;gnomADv4_1_AF_grpmax_joint=0.51051;gnomADv4_1_AF_joint=0.297018;gnomADv4_1_AF_joint_XX=0.290866;gnomADv4_1_AF_joint_XY=0.303458;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7527;gnomADv4_1_nhomalt_joint_XX=3676;gnomADv4_1_nhomalt_joint_XY=3851;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27060799 chr22_27060799_A_G A G 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=3.464;CADD_Rawscore=0.317441;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs556407298|281|-1||||1||||||||Ensembl||A|A||||chr22:g.27060799A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||1/2|ENST00000658755.2:n.260+189T>C|||||||rs556407298||-1||||||||||||Ensembl||A|A||||chr22:g.27060799A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||1/3|NR_164796.1:n.251+189T>C|||||||rs556407298||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27060799A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=113;gnomADv4_1_AC_joint_XX=63;gnomADv4_1_AC_joint_XY=50;gnomADv4_1_AF_grpmax_joint=0.00150366;gnomADv4_1_AF_joint=0.000741966;gnomADv4_1_AF_joint_XX=0.000809436;gnomADv4_1_AF_joint_XY=0.000671447;gnomADv4_1_AN_grpmax_joint=15296;gnomADv4_1_AN_joint=152298;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74466;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27060848 chr22_27060848_T_C T C 56 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.823;CADD_Rawscore=-0.067892;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs4822838|330|-1||||1||||||||Ensembl||T|T||||chr22:g.27060848T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||1/2|ENST00000658755.2:n.260+140A>G|||||||rs4822838||-1||||||||||||Ensembl||T|T||||chr22:g.27060848T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||1/3|NR_164796.1:n.251+140A>G|||||||rs4822838||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27060848T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=50290;gnomADv4_1_AC_joint_XX=25259;gnomADv4_1_AC_joint_XY=25031;gnomADv4_1_AF_grpmax_joint=0.507582;gnomADv4_1_AF_joint=0.330673;gnomADv4_1_AF_joint_XX=0.324791;gnomADv4_1_AF_joint_XY=0.336828;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8586;gnomADv4_1_nhomalt_joint_XX=4193;gnomADv4_1_nhomalt_joint_XY=4393;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27061106 chr22_27061106_T_C T C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.732;CADD_Rawscore=-0.097553;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs4822839|588|-1||||1||||||||Ensembl||T|T||||chr22:g.27061106T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA|1/3||ENST00000658755.2:n.142A>G||142|||||rs4822839||-1||||||||||||Ensembl||T|T||||chr22:g.27061106T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA|1/4||NR_164796.1:n.133A>G||133|||||rs4822839||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27061106T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=44683;gnomADv4_1_AC_joint_XX=22355;gnomADv4_1_AC_joint_XY=22328;gnomADv4_1_AF_grpmax_joint=0.510651;gnomADv4_1_AF_joint=0.293878;gnomADv4_1_AF_joint_XX=0.287561;gnomADv4_1_AF_joint_XY=0.300487;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7379;gnomADv4_1_nhomalt_joint_XX=3594;gnomADv4_1_nhomalt_joint_XY=3785;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27061556 chr22_27061556_A_C A C 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=3.364;CADD_Rawscore=0.308364;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs4822840|1038|-1||||1||||||||Ensembl||A|A||||chr22:g.27061556A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs4822840|309|-1||||||||||||Ensembl||A|A||||chr22:g.27061556A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs4822840|318|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27061556A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=51036;gnomADv4_1_AC_joint_XX=25655;gnomADv4_1_AC_joint_XY=25381;gnomADv4_1_AF_grpmax_joint=0.507915;gnomADv4_1_AF_joint=0.335626;gnomADv4_1_AF_joint_XX=0.330078;gnomADv4_1_AF_joint_XY=0.341427;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8766;gnomADv4_1_nhomalt_joint_XX=4284;gnomADv4_1_nhomalt_joint_XY=4482;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27061561 chr22_27061561_A_C A C 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.852;CADD_Rawscore=-0.059078;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs11090470|1043|-1||||1||||||||Ensembl||A|A||||chr22:g.27061561A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs11090470|314|-1||||||||||||Ensembl||A|A||||chr22:g.27061561A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs11090470|323|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27061561A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=28385;gnomADv4_1_AC_joint_XX=14369;gnomADv4_1_AC_joint_XY=14016;gnomADv4_1_AF_grpmax_joint=0.318076;gnomADv4_1_AF_joint=0.186581;gnomADv4_1_AF_joint_XX=0.184791;gnomADv4_1_AF_joint_XY=0.188453;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152132;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2831;gnomADv4_1_nhomalt_joint_XX=1412;gnomADv4_1_nhomalt_joint_XY=1419;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27061731 chr22_27061731_A_G A G 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.377;CADD_Rawscore=0.065621;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs9613362|1213|-1||||1||||||||Ensembl||A|A||||chr22:g.27061731A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs9613362|484|-1||||||||||||Ensembl||A|A||||chr22:g.27061731A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs9613362|493|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27061731A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=120352;gnomADv4_1_AC_joint_XX=61000;gnomADv4_1_AC_joint_XY=59352;gnomADv4_1_AF_grpmax_joint=0.983012;gnomADv4_1_AF_joint=0.790843;gnomADv4_1_AF_joint_XX=0.784203;gnomADv4_1_AF_joint_XY=0.797785;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152182;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=48122;gnomADv4_1_nhomalt_joint_XX=24174;gnomADv4_1_nhomalt_joint_XY=23948;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27062198 chr22_27062198_C_T C T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.497;CADD_Rawscore=0.087545;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs760527|1680|-1||||1||||||||Ensembl||C|C||||chr22:g.27062198C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs760527|951|-1||||||||||||Ensembl||C|C||||chr22:g.27062198C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs760527|960|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27062198C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=135123;gnomADv4_1_AC_joint_XX=68690;gnomADv4_1_AC_joint_XY=66433;gnomADv4_1_AF_grpmax_joint=0.998841;gnomADv4_1_AF_joint=0.887741;gnomADv4_1_AF_joint_XX=0.882859;gnomADv4_1_AF_joint_XY=0.892845;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152210;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=60027;gnomADv4_1_nhomalt_joint_XX=30329;gnomADv4_1_nhomalt_joint_XY=29698;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27062996 chr22_27062996_A_G A G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.975;CADD_Rawscore=-0.024339;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs13054715|2478|-1||||1||||||||Ensembl||A|A||||chr22:g.27062996A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs13054715|1749|-1||||||||||||Ensembl||A|A||||chr22:g.27062996A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs13054715|1758|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27062996A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=18856;gnomADv4_1_AC_joint_XX=9863;gnomADv4_1_AC_joint_XY=8993;gnomADv4_1_AF_grpmax_joint=0.210884;gnomADv4_1_AF_joint=0.123878;gnomADv4_1_AF_joint_XX=0.12679;gnomADv4_1_AF_joint_XY=0.120835;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1514;gnomADv4_1_nhomalt_joint_XX=794;gnomADv4_1_nhomalt_joint_XY=720;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27063248 chr22_27063248_A_G A G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.965;CADD_Rawscore=-0.027083;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs13055147|2730|-1||||1||||||||Ensembl||A|A||||chr22:g.27063248A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs13055147|2001|-1||||||||||||Ensembl||A|A||||chr22:g.27063248A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs13055147|2010|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27063248A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=18842;gnomADv4_1_AC_joint_XX=9865;gnomADv4_1_AC_joint_XY=8977;gnomADv4_1_AF_grpmax_joint=0.210884;gnomADv4_1_AF_joint=0.123832;gnomADv4_1_AF_joint_XX=0.126852;gnomADv4_1_AF_joint_XY=0.120675;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1518;gnomADv4_1_nhomalt_joint_XX=798;gnomADv4_1_nhomalt_joint_XY=720;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27063601 chr22_27063601_C_T C T 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=15.77;CADD_Rawscore=1.79371;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs73416473|3083|-1||||1||||||||Ensembl||C|C||||chr22:g.27063601C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs73416473|2354|-1||||||||||||Ensembl||C|C||||chr22:g.27063601C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs73416473|2363|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27063601C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RH3S|enhancer||||||||||rs73416473|||||||||||||||||||||chr22:g.27063601C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1,ENSR22_8RH3S;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000236858,ENSG00000236858,284898,.;VEP_SYMBOL=.,.,LOC284898,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=10089;gnomADv4_1_AC_joint_XX=5213;gnomADv4_1_AC_joint_XY=4876;gnomADv4_1_AF_grpmax_joint=0.190476;gnomADv4_1_AF_joint=0.0662712;gnomADv4_1_AF_joint_XX=0.0669948;gnomADv4_1_AF_joint_XY=0.0655147;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=412;gnomADv4_1_nhomalt_joint_XX=193;gnomADv4_1_nhomalt_joint_XY=219;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27063760 chr22_27063760_G_C G C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=14.93;CADD_Rawscore=1.63145;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs2331366|3242|-1||||1||||||||Ensembl||G|G||||chr22:g.27063760G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs2331366|2513|-1||||||||||||Ensembl||G|G||||chr22:g.27063760G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs2331366|2522|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27063760G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RH3S|enhancer||||||||||rs2331366|||||||||||||||||||||chr22:g.27063760G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1,ENSR22_8RH3S;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000236858,ENSG00000236858,284898,.;VEP_SYMBOL=.,.,LOC284898,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=28592;gnomADv4_1_AC_joint_XX=14499;gnomADv4_1_AC_joint_XY=14093;gnomADv4_1_AF_grpmax_joint=0.318622;gnomADv4_1_AF_joint=0.187996;gnomADv4_1_AF_joint_XX=0.186478;gnomADv4_1_AF_joint_XY=0.189585;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2862;gnomADv4_1_nhomalt_joint_XX=1438;gnomADv4_1_nhomalt_joint_XY=1424;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27063868 chr22_27063868_T_TAC T TAC 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.314;CADDIndel_Rawscore=-0.310031;CSQ=AC|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs57952726|3350|-1||||1||||||||Ensembl|||||||chr22:g.27063883_27063884dup|||||||||||||,AC|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs57952726|2621|-1||||||||||||Ensembl|||||||chr22:g.27063883_27063884dup|||||||||||||,AC|upstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs57952726|2630|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27063883_27063884dup|||||||||||||;TYPE=INDEL;VEP_Allele=AC,AC,AC;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=31579;gnomADv4_1_AC_joint_XX=16689;gnomADv4_1_AC_joint_XY=14890;gnomADv4_1_AF_grpmax_joint=0.330198;gnomADv4_1_AF_joint=0.209368;gnomADv4_1_AF_joint_XX=0.216201;gnomADv4_1_AF_joint_XY=0.202205;gnomADv4_1_AN_grpmax_joint=41148;gnomADv4_1_AN_joint=150830;gnomADv4_1_AN_joint_XX=77192;gnomADv4_1_AN_joint_XY=73638;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3731;gnomADv4_1_nhomalt_joint_XX=1996;gnomADv4_1_nhomalt_joint_XY=1735;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27064831 chr22_27064831_G_A G A 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.254;CADD_Rawscore=-0.364904;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs5761936|4313|-1||||1||||||||Ensembl||G|G||||chr22:g.27064831G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs5761936|3584|-1||||||||||||Ensembl||G|G||||chr22:g.27064831G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs5761936|3593|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27064831G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=24735;gnomADv4_1_AC_joint_XX=12416;gnomADv4_1_AC_joint_XY=12319;gnomADv4_1_AF_grpmax_joint=0.323461;gnomADv4_1_AF_joint=0.162516;gnomADv4_1_AF_joint_XX=0.159597;gnomADv4_1_AF_joint_XY=0.165569;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152200;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2263;gnomADv4_1_nhomalt_joint_XX=1096;gnomADv4_1_nhomalt_joint_XY=1167;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27064849 chr22_27064849_A_T A T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=4.49;CADD_Rawscore=0.409026;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000453934|lncRNA||||||||||rs73171607|4331|-1||||1||||||||Ensembl||A|A||||chr22:g.27064849A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs73171607|3602|-1||||||||||||Ensembl||A|A||||chr22:g.27064849A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs73171607|3611|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27064849A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000453934,ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000236858,ENSG00000236858,284898;VEP_SYMBOL=.,.,LOC284898;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=22285;gnomADv4_1_AC_joint_XX=10999;gnomADv4_1_AC_joint_XY=11286;gnomADv4_1_AF_grpmax_joint=0.228595;gnomADv4_1_AF_joint=0.146365;gnomADv4_1_AF_joint_XX=0.141335;gnomADv4_1_AF_joint_XY=0.151624;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152256;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1955;gnomADv4_1_nhomalt_joint_XX=960;gnomADv4_1_nhomalt_joint_XY=995;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27065531 chr22_27065531_G_C G C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.056;CADD_Rawscore=-0.769753;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs5752475|4284|-1||||||||||||Ensembl||G|G||||chr22:g.27065531G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs5752475|4293|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27065531G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000236858,284898;VEP_SYMBOL=.,LOC284898;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=134552;gnomADv4_1_AC_joint_XX=68412;gnomADv4_1_AC_joint_XY=66140;gnomADv4_1_AF_grpmax_joint=0.999221;gnomADv4_1_AF_joint=0.88478;gnomADv4_1_AF_joint_XX=0.879965;gnomADv4_1_AF_joint_XY=0.889816;gnomADv4_1_AN_grpmax_joint=5136;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=59577;gnomADv4_1_nhomalt_joint_XX=30103;gnomADv4_1_nhomalt_joint_XY=29474;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27065841 chr22_27065841_G_A G A 17 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=17;CADD_PHREDscore=3.654;CADD_Rawscore=0.334525;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000236858|Transcript|ENST00000658755|lncRNA||||||||||rs5752476|4594|-1||||||||||||Ensembl||G|G||||chr22:g.27065841G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC284898|284898|Transcript|NR_164796.1|lncRNA||||||||||rs5752476|4603|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27065841G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000658755,NR_164796.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000236858,284898;VEP_SYMBOL=.,LOC284898;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=22965;gnomADv4_1_AC_joint_XX=11805;gnomADv4_1_AC_joint_XY=11160;gnomADv4_1_AF_grpmax_joint=0.241497;gnomADv4_1_AF_joint=0.150921;gnomADv4_1_AF_joint_XX=0.15179;gnomADv4_1_AF_joint_XY=0.150012;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152166;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1843;gnomADv4_1_nhomalt_joint_XX=916;gnomADv4_1_nhomalt_joint_XY=927;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27066453 chr22_27066453_G_A G A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=4.738;CADD_Rawscore=0.43155;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs9306433|||||||||||||||||||||chr22:g.27066453G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=77890;gnomADv4_1_AC_joint_XX=39399;gnomADv4_1_AC_joint_XY=38491;gnomADv4_1_AF_grpmax_joint=0.824796;gnomADv4_1_AF_joint=0.513272;gnomADv4_1_AF_joint_XX=0.50806;gnomADv4_1_AF_joint_XY=0.518719;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151752;gnomADv4_1_AN_joint_XX=77548;gnomADv4_1_AN_joint_XY=74204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=20443;gnomADv4_1_nhomalt_joint_XX=10247;gnomADv4_1_nhomalt_joint_XY=10196;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27067738 chr22_27067738_C_T C T 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=6.666;CADD_Rawscore=0.622264;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs56234606|||||||||||||||||||||chr22:g.27067738C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26754;gnomADv4_1_AC_joint_XX=13264;gnomADv4_1_AC_joint_XY=13490;gnomADv4_1_AF_grpmax_joint=0.235367;gnomADv4_1_AF_joint=0.175851;gnomADv4_1_AF_joint_XX=0.17055;gnomADv4_1_AF_joint_XY=0.181395;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152140;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2508;gnomADv4_1_nhomalt_joint_XX=1225;gnomADv4_1_nhomalt_joint_XY=1283;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27067928 chr22_27067928_G_A G A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.919;CADD_Rawscore=0.152962;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs2075945|||||||||||||||||||||chr22:g.27067928G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=96461;gnomADv4_1_AC_joint_XX=48730;gnomADv4_1_AC_joint_XY=47731;gnomADv4_1_AF_grpmax_joint=0.765619;gnomADv4_1_AF_joint=0.634796;gnomADv4_1_AF_joint_XX=0.627204;gnomADv4_1_AF_joint_XY=0.642738;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151956;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=30841;gnomADv4_1_nhomalt_joint_XX=15370;gnomADv4_1_nhomalt_joint_XY=15471;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27068071 chr22_27068071_A_C A C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.148;CADD_Rawscore=0.288522;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5752477|||||||||||||||||||||chr22:g.27068071A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=115990;gnomADv4_1_AC_joint_XX=58669;gnomADv4_1_AC_joint_XY=57321;gnomADv4_1_AF_grpmax_joint=0.985703;gnomADv4_1_AF_joint=0.762881;gnomADv4_1_AF_joint_XX=0.754741;gnomADv4_1_AF_joint_XY=0.771397;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=44816;gnomADv4_1_nhomalt_joint_XX=22437;gnomADv4_1_nhomalt_joint_XY=22379;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27068091 chr22_27068091_A_G A G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=4.044;CADD_Rawscore=0.369138;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5752478|||||||||||||||||||||chr22:g.27068091A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=116219;gnomADv4_1_AC_joint_XX=58786;gnomADv4_1_AC_joint_XY=57433;gnomADv4_1_AF_grpmax_joint=0.985516;gnomADv4_1_AF_joint=0.763935;gnomADv4_1_AF_joint_XX=0.755798;gnomADv4_1_AF_joint_XY=0.772447;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152132;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=44989;gnomADv4_1_nhomalt_joint_XX=22522;gnomADv4_1_nhomalt_joint_XY=22467;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27068439 chr22_27068439_A_G A G 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=2.218;CADD_Rawscore=0.191514;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5761937|||||||||||||||||||||chr22:g.27068439A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=116465;gnomADv4_1_AC_joint_XX=58894;gnomADv4_1_AC_joint_XY=57571;gnomADv4_1_AF_grpmax_joint=0.985504;gnomADv4_1_AF_joint=0.765613;gnomADv4_1_AF_joint_XX=0.75744;gnomADv4_1_AF_joint_XY=0.774158;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=45207;gnomADv4_1_nhomalt_joint_XX=22617;gnomADv4_1_nhomalt_joint_XY=22590;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27068681 chr22_27068681_G_A G A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.211;CADD_Rawscore=-0.412351;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs4822841|||||||||||||||||||||chr22:g.27068681G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=116045;gnomADv4_1_AC_joint_XX=58682;gnomADv4_1_AC_joint_XY=57363;gnomADv4_1_AF_grpmax_joint=0.985521;gnomADv4_1_AF_joint=0.762481;gnomADv4_1_AF_joint_XX=0.754287;gnomADv4_1_AF_joint_XY=0.77105;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=44829;gnomADv4_1_nhomalt_joint_XX=22434;gnomADv4_1_nhomalt_joint_XY=22395;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27069635 chr22_27069635_A_G A G 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.044;CADD_Rawscore=-0.834016;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4820732|||||||||||||||||||||chr22:g.27069635A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26883;gnomADv4_1_AC_joint_XX=13307;gnomADv4_1_AC_joint_XY=13576;gnomADv4_1_AF_grpmax_joint=0.235708;gnomADv4_1_AF_joint=0.176597;gnomADv4_1_AF_joint_XX=0.171037;gnomADv4_1_AF_joint_XY=0.182409;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152228;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2550;gnomADv4_1_nhomalt_joint_XX=1237;gnomADv4_1_nhomalt_joint_XY=1313;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27069666 chr22_27069666_T_G T G 53 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.384;CADD_Rawscore=-0.259432;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4820733|||||||||||||||||||||chr22:g.27069666T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=27000;gnomADv4_1_AC_joint_XX=13356;gnomADv4_1_AC_joint_XY=13644;gnomADv4_1_AF_grpmax_joint=0.237355;gnomADv4_1_AF_joint=0.177366;gnomADv4_1_AF_joint_XX=0.171675;gnomADv4_1_AF_joint_XY=0.183313;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152228;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2565;gnomADv4_1_nhomalt_joint_XX=1242;gnomADv4_1_nhomalt_joint_XY=1323;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27070270 chr22_27070270_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.033;CADD_Rawscore=-0.918958;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs2179054|||||||||||||||||||||chr22:g.27070270C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=115597;gnomADv4_1_AC_joint_XX=58486;gnomADv4_1_AC_joint_XY=57111;gnomADv4_1_AF_grpmax_joint=0.985516;gnomADv4_1_AF_joint=0.759937;gnomADv4_1_AF_joint_XX=0.752425;gnomADv4_1_AF_joint_XY=0.767786;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=44540;gnomADv4_1_nhomalt_joint_XX=22311;gnomADv4_1_nhomalt_joint_XY=22229;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27070880 chr22_27070880_G_A G A 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.613;CADD_Rawscore=0.107206;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs16986747|||||||||||||||||||||chr22:g.27070880G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=52305;gnomADv4_1_AC_joint_XX=26406;gnomADv4_1_AC_joint_XY=25899;gnomADv4_1_AF_grpmax_joint=0.491136;gnomADv4_1_AF_joint=0.344144;gnomADv4_1_AF_joint_XX=0.339828;gnomADv4_1_AF_joint_XY=0.348658;gnomADv4_1_AN_grpmax_joint=41402;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9755;gnomADv4_1_nhomalt_joint_XX=4872;gnomADv4_1_nhomalt_joint_XY=4883;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27071755 chr22_27071755_G_A G A 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.408;CADD_Rawscore=-0.244354;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs73171610|||||||||||||||||||||chr22:g.27071755G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26923;gnomADv4_1_AC_joint_XX=13319;gnomADv4_1_AC_joint_XY=13604;gnomADv4_1_AF_grpmax_joint=0.236186;gnomADv4_1_AF_joint=0.177377;gnomADv4_1_AF_joint_XX=0.17165;gnomADv4_1_AF_joint_XY=0.183367;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=151784;gnomADv4_1_AN_joint_XX=77594;gnomADv4_1_AN_joint_XY=74190;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2566;gnomADv4_1_nhomalt_joint_XX=1240;gnomADv4_1_nhomalt_joint_XY=1326;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27072028 chr22_27072028_C_T C T 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=2.859;CADD_Rawscore=0.260769;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5997163|||||||||||||||||||||chr22:g.27072028C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=34883;gnomADv4_1_AC_joint_XX=17515;gnomADv4_1_AC_joint_XY=17368;gnomADv4_1_AF_grpmax_joint=0.295908;gnomADv4_1_AF_joint=0.229678;gnomADv4_1_AF_joint_XX=0.225575;gnomADv4_1_AF_joint_XY=0.233969;gnomADv4_1_AN_grpmax_joint=41398;gnomADv4_1_AN_joint=151878;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=74232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4213;gnomADv4_1_nhomalt_joint_XX=2103;gnomADv4_1_nhomalt_joint_XY=2110;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27072091 chr22_27072091_C_T C T 59 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.334;CADD_Rawscore=-0.294668;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5761938|||||||||||||||||||||chr22:g.27072091C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=62795;gnomADv4_1_AC_joint_XX=31835;gnomADv4_1_AC_joint_XY=30960;gnomADv4_1_AF_grpmax_joint=0.608485;gnomADv4_1_AF_joint=0.413609;gnomADv4_1_AF_joint_XX=0.409981;gnomADv4_1_AF_joint_XY=0.417408;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151822;gnomADv4_1_AN_joint_XX=77650;gnomADv4_1_AN_joint_XY=74172;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13352;gnomADv4_1_nhomalt_joint_XX=6697;gnomADv4_1_nhomalt_joint_XY=6655;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27072499 chr22_27072499_T_C T C 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=3.023;CADD_Rawscore=0.276648;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5761939|||||||||||||||||||||chr22:g.27072499T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=115816;gnomADv4_1_AC_joint_XX=58631;gnomADv4_1_AC_joint_XY=57185;gnomADv4_1_AF_grpmax_joint=0.985714;gnomADv4_1_AF_joint=0.760906;gnomADv4_1_AF_joint_XX=0.753592;gnomADv4_1_AF_joint_XY=0.768554;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152208;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=44701;gnomADv4_1_nhomalt_joint_XX=22408;gnomADv4_1_nhomalt_joint_XY=22293;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27072895 chr22_27072895_T_C T C 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.843;CADD_Rawscore=0.25915;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs55745232|||||||||||||||||||||chr22:g.27072895T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26954;gnomADv4_1_AC_joint_XX=13346;gnomADv4_1_AC_joint_XY=13608;gnomADv4_1_AF_grpmax_joint=0.236613;gnomADv4_1_AF_joint=0.177096;gnomADv4_1_AF_joint_XX=0.171498;gnomADv4_1_AF_joint_XY=0.182952;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152200;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2561;gnomADv4_1_nhomalt_joint_XX=1240;gnomADv4_1_nhomalt_joint_XY=1321;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27073203 chr22_27073203_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.107;CADD_Rawscore=-0.592541;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs713899|||||||||||||||||||||chr22:g.27073203A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=115787;gnomADv4_1_AC_joint_XX=58599;gnomADv4_1_AC_joint_XY=57188;gnomADv4_1_AF_grpmax_joint=0.985493;gnomADv4_1_AF_joint=0.761396;gnomADv4_1_AF_joint_XX=0.753724;gnomADv4_1_AF_joint_XY=0.769421;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=44724;gnomADv4_1_nhomalt_joint_XX=22405;gnomADv4_1_nhomalt_joint_XY=22319;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27073409 chr22_27073409_A_AG A AG 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.148;CADDIndel_Rawscore=-0.507163;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs55826354|||||||||||||||||||||chr22:g.27073409_27073410insG|||||||||||||;TYPE=INDEL;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=137380;gnomADv4_1_AC_joint_XX=69890;gnomADv4_1_AC_joint_XY=67490;gnomADv4_1_AF_grpmax_joint=0.999225;gnomADv4_1_AF_joint=0.902806;gnomADv4_1_AF_joint_XX=0.898445;gnomADv4_1_AF_joint_XY=0.907368;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=62091;gnomADv4_1_nhomalt_joint_XX=31420;gnomADv4_1_nhomalt_joint_XY=30671;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27074367 chr22_27074367_A_G A G 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.93;CADD_Rawscore=0.358985;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5761940|||||||||||||||||||||chr22:g.27074367A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=64085;gnomADv4_1_AC_joint_XX=32556;gnomADv4_1_AC_joint_XY=31529;gnomADv4_1_AF_grpmax_joint=0.625545;gnomADv4_1_AF_joint=0.43983;gnomADv4_1_AF_joint_XX=0.434776;gnomADv4_1_AF_joint_XY=0.445174;gnomADv4_1_AN_grpmax_joint=5050;gnomADv4_1_AN_joint=145704;gnomADv4_1_AN_joint_XX=74880;gnomADv4_1_AN_joint_XY=70824;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13867;gnomADv4_1_nhomalt_joint_XX=6970;gnomADv4_1_nhomalt_joint_XY=6897;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27074388 chr22_27074389_T_TTTTCTTTTC;chr22_27074388_CT_C;chr22_27074388_CTT_C CT C 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=36;CADDIndel_PHREDscore=0.675;CADDIndel_Rawscore=-0.11808;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs67907412|||||||||||||||||||||chr22:g.27074402del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=32823;gnomADv4_1_AC_joint_XX=17330;gnomADv4_1_AC_joint_XY=15493;gnomADv4_1_AF_grpmax_joint=0.386137;gnomADv4_1_AF_joint=0.350823;gnomADv4_1_AF_joint_XX=0.361162;gnomADv4_1_AF_joint_XY=0.339938;gnomADv4_1_AN_grpmax_joint=50710;gnomADv4_1_AN_joint=93560;gnomADv4_1_AN_joint_XX=47984;gnomADv4_1_AN_joint_XY=45576;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4077;gnomADv4_1_nhomalt_joint_XX=2202;gnomADv4_1_nhomalt_joint_XY=1875;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27074388 chr22_27074389_T_TTTTCTTTTC;chr22_27074388_CT_C;chr22_27074388_CTT_C CTT C 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=36;CADDIndel_PHREDscore=0.793;CADDIndel_Rawscore=-0.077187;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs67907412|||||||||||||||||||||chr22:g.27074401_27074402del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=24969;gnomADv4_1_AC_joint_XX=12350;gnomADv4_1_AC_joint_XY=12619;gnomADv4_1_AF_grpmax_joint=0.492415;gnomADv4_1_AF_joint=0.266598;gnomADv4_1_AF_joint_XX=0.257045;gnomADv4_1_AF_joint_XY=0.27666;gnomADv4_1_AN_grpmax_joint=1714;gnomADv4_1_AN_joint=93658;gnomADv4_1_AN_joint_XX=48046;gnomADv4_1_AN_joint_XY=45612;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2332;gnomADv4_1_nhomalt_joint_XX=1120;gnomADv4_1_nhomalt_joint_XY=1212;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27074389 chr22_27074389_T_TTTTCTTTTC;chr22_27074388_CT_C;chr22_27074388_CTT_C T TTTTCTTTTC 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=0.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=46;CADDIndel_PHREDscore=0.858;CADDIndel_Rawscore=-0.057288;CSQ=TTTCTTTTC|intergenic_variant|MODIFIER|||||||||||||||rs9306434|||||||||||||||||||||chr22:g.27074392_27074393insCTTTTCTTT|||||||||||||;TYPE=INDEL;VEP_Allele=TTTCTTTTC;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70921;gnomADv4_1_AC_joint_XX=36316;gnomADv4_1_AC_joint_XY=34605;gnomADv4_1_AF_grpmax_joint=0.639396;gnomADv4_1_AF_joint=0.591048;gnomADv4_1_AF_joint_XX=0.591292;gnomADv4_1_AF_joint_XY=0.590791;gnomADv4_1_AN_grpmax_joint=36780;gnomADv4_1_AN_joint=119992;gnomADv4_1_AN_joint_XX=61418;gnomADv4_1_AN_joint_XY=58574;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17314;gnomADv4_1_nhomalt_joint_XX=8861;gnomADv4_1_nhomalt_joint_XY=8453;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27074801 chr22_27074801_T_C T C 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.815;CADD_Rawscore=0.256418;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs1543305|||||||||||||||||||||chr22:g.27074801T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=134775;gnomADv4_1_AC_joint_XX=68501;gnomADv4_1_AC_joint_XY=66274;gnomADv4_1_AF_grpmax_joint=0.999226;gnomADv4_1_AF_joint=0.885338;gnomADv4_1_AF_joint_XX=0.880476;gnomADv4_1_AF_joint_XY=0.890421;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152230;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=59714;gnomADv4_1_nhomalt_joint_XX=30156;gnomADv4_1_nhomalt_joint_XY=29558;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27075228 chr22_27075228_TGGAA_T TGGAA T 41 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=1.751;CADDIndel_Rawscore=0.12877;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs34869422|||||||||||||||||||||chr22:g.27075240_27075243del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=111993;gnomADv4_1_AC_joint_XX=57003;gnomADv4_1_AC_joint_XY=54990;gnomADv4_1_AF_grpmax_joint=0.984413;gnomADv4_1_AF_joint=0.760925;gnomADv4_1_AF_joint_XX=0.753629;gnomADv4_1_AF_joint_XY=0.768639;gnomADv4_1_AN_grpmax_joint=4940;gnomADv4_1_AN_joint=147180;gnomADv4_1_AN_joint_XX=75638;gnomADv4_1_AN_joint_XY=71542;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=42789;gnomADv4_1_nhomalt_joint_XX=21584;gnomADv4_1_nhomalt_joint_XY=21205;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27075563 chr22_27075563_T_C T C 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=3.052;CADD_Rawscore=0.279409;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4822843|||||||||||||||||||||chr22:g.27075563T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=113027;gnomADv4_1_AC_joint_XX=57166;gnomADv4_1_AC_joint_XY=55861;gnomADv4_1_AF_grpmax_joint=0.985648;gnomADv4_1_AF_joint=0.743041;gnomADv4_1_AF_joint_XX=0.735311;gnomADv4_1_AF_joint_XY=0.751123;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=42467;gnomADv4_1_nhomalt_joint_XX=21252;gnomADv4_1_nhomalt_joint_XY=21215;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27076009 chr22_27076009_G_C G C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.127;CADD_Rawscore=-0.547912;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5761943|||||||||||||||||||||chr22:g.27076009G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=113038;gnomADv4_1_AC_joint_XX=57176;gnomADv4_1_AC_joint_XY=55862;gnomADv4_1_AF_grpmax_joint=0.98567;gnomADv4_1_AF_joint=0.743016;gnomADv4_1_AF_joint_XX=0.735364;gnomADv4_1_AF_joint_XY=0.751015;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=42466;gnomADv4_1_nhomalt_joint_XX=21259;gnomADv4_1_nhomalt_joint_XY=21207;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27076394 chr22_27076394_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.181;CADD_Rawscore=0.187007;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs9613366|||||||||||||||||||||chr22:g.27076394G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=41414;gnomADv4_1_AC_joint_XX=21534;gnomADv4_1_AC_joint_XY=19880;gnomADv4_1_AF_grpmax_joint=0.343956;gnomADv4_1_AF_joint=0.272367;gnomADv4_1_AF_joint_XX=0.277036;gnomADv4_1_AF_joint_XY=0.267485;gnomADv4_1_AN_grpmax_joint=41482;gnomADv4_1_AN_joint=152052;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5813;gnomADv4_1_nhomalt_joint_XX=3039;gnomADv4_1_nhomalt_joint_XY=2774;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27076496 chr22_27076496_A_C A C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.602;CADD_Rawscore=0.234607;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs34232622|||||||||||||||||||||chr22:g.27076496A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=31641;gnomADv4_1_AC_joint_XX=16342;gnomADv4_1_AC_joint_XY=15299;gnomADv4_1_AF_grpmax_joint=0.323129;gnomADv4_1_AF_joint=0.208025;gnomADv4_1_AF_joint_XX=0.21023;gnomADv4_1_AF_joint_XY=0.20572;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3453;gnomADv4_1_nhomalt_joint_XX=1747;gnomADv4_1_nhomalt_joint_XY=1706;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27076540 chr22_27076540_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=7.005;CADD_Rawscore=0.658623;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4822845|||||||||||||||||||||chr22:g.27076540A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=136601;gnomADv4_1_AC_joint_XX=69489;gnomADv4_1_AC_joint_XY=67112;gnomADv4_1_AF_grpmax_joint=0.999227;gnomADv4_1_AF_joint=0.89738;gnomADv4_1_AF_joint_XX=0.893106;gnomADv4_1_AF_joint_XY=0.901849;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152222;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61362;gnomADv4_1_nhomalt_joint_XX=31041;gnomADv4_1_nhomalt_joint_XY=30321;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27076554 chr22_27076554_G_A G A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=4.975;CADD_Rawscore=0.453523;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs16983590|||||||||||||||||||||chr22:g.27076554G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=31412;gnomADv4_1_AC_joint_XX=16269;gnomADv4_1_AC_joint_XY=15143;gnomADv4_1_AF_grpmax_joint=0.323129;gnomADv4_1_AF_joint=0.206536;gnomADv4_1_AF_joint_XX=0.209226;gnomADv4_1_AF_joint_XY=0.203721;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152090;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3498;gnomADv4_1_nhomalt_joint_XX=1795;gnomADv4_1_nhomalt_joint_XY=1703;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27076707 chr22_27076707_A_G A G 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.209;CADD_Rawscore=-0.415577;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4822846|||||||||||||||||||||chr22:g.27076707A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=139382;gnomADv4_1_AC_joint_XX=70913;gnomADv4_1_AC_joint_XY=68469;gnomADv4_1_AF_grpmax_joint=0.999227;gnomADv4_1_AF_joint=0.915914;gnomADv4_1_AF_joint_XX=0.911548;gnomADv4_1_AF_joint_XY=0.92048;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152178;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=63973;gnomADv4_1_nhomalt_joint_XX=32381;gnomADv4_1_nhomalt_joint_XY=31592;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27077026 chr22_27077026_A_G A G 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.191;CADD_Rawscore=-0.439267;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs6519694|||||||||||||||||||||chr22:g.27077026A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=22844;gnomADv4_1_AC_joint_XX=11951;gnomADv4_1_AC_joint_XY=10893;gnomADv4_1_AF_grpmax_joint=0.221088;gnomADv4_1_AF_joint=0.150122;gnomADv4_1_AF_joint_XX=0.153683;gnomADv4_1_AF_joint_XY=0.146399;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1845;gnomADv4_1_nhomalt_joint_XX=965;gnomADv4_1_nhomalt_joint_XY=880;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27077066 chr22_27077066_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.066;CADD_Rawscore=-0.725171;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs6519695|||||||||||||||||||||chr22:g.27077066A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=98014;gnomADv4_1_AC_joint_XX=50179;gnomADv4_1_AC_joint_XY=47835;gnomADv4_1_AF_grpmax_joint=0.710884;gnomADv4_1_AF_joint=0.645211;gnomADv4_1_AF_joint_XX=0.645821;gnomADv4_1_AF_joint_XY=0.644572;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151910;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74212;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31713;gnomADv4_1_nhomalt_joint_XX=16211;gnomADv4_1_nhomalt_joint_XY=15502;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27077080 chr22_27077080_G_A G A 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=6.238;CADD_Rawscore=0.577451;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs34541595|||||||||||||||||||||chr22:g.27077080G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=27339;gnomADv4_1_AC_joint_XX=13674;gnomADv4_1_AC_joint_XY=13665;gnomADv4_1_AF_grpmax_joint=0.225073;gnomADv4_1_AF_joint=0.179864;gnomADv4_1_AF_joint_XX=0.175894;gnomADv4_1_AF_joint_XY=0.184021;gnomADv4_1_AN_grpmax_joint=4794;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2928;gnomADv4_1_nhomalt_joint_XX=1441;gnomADv4_1_nhomalt_joint_XY=1487;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27077170 chr22_27077170_T_C T C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.981;CADD_Rawscore=0.551298;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs59236562|||||||||||||||||||||chr22:g.27077170T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36745;gnomADv4_1_AC_joint_XX=18734;gnomADv4_1_AC_joint_XY=18011;gnomADv4_1_AF_grpmax_joint=0.414336;gnomADv4_1_AF_joint=0.241899;gnomADv4_1_AF_joint_XX=0.241287;gnomADv4_1_AF_joint_XY=0.24254;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=151902;gnomADv4_1_AN_joint_XX=77642;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4664;gnomADv4_1_nhomalt_joint_XX=2350;gnomADv4_1_nhomalt_joint_XY=2314;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27077207 chr22_27077207_G_A G A 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.844;CADD_Rawscore=0.351383;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs16983592|||||||||||||||||||||chr22:g.27077207G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36171;gnomADv4_1_AC_joint_XX=18428;gnomADv4_1_AC_joint_XY=17743;gnomADv4_1_AF_grpmax_joint=0.412883;gnomADv4_1_AF_joint=0.237986;gnomADv4_1_AF_joint_XX=0.237169;gnomADv4_1_AF_joint_XY=0.238841;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151988;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4532;gnomADv4_1_nhomalt_joint_XX=2284;gnomADv4_1_nhomalt_joint_XY=2248;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27077810 chr22_27077810_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.468;CADD_Rawscore=-0.209571;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5752479|||||||||||||||||||||chr22:g.27077810C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=59262;gnomADv4_1_AC_joint_XX=30039;gnomADv4_1_AC_joint_XY=29223;gnomADv4_1_AF_grpmax_joint=0.539617;gnomADv4_1_AF_joint=0.390143;gnomADv4_1_AF_joint_XX=0.386791;gnomADv4_1_AF_joint_XY=0.39365;gnomADv4_1_AN_grpmax_joint=5124;gnomADv4_1_AN_joint=151898;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11811;gnomADv4_1_nhomalt_joint_XX=5874;gnomADv4_1_nhomalt_joint_XY=5937;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27079550 chr22_27079550_A_G A G 55 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.046;CADD_Rawscore=-0.821437;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs909487|||||||||||||||||||||chr22:g.27079550A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=54802;gnomADv4_1_AC_joint_XX=27717;gnomADv4_1_AC_joint_XY=27085;gnomADv4_1_AF_grpmax_joint=0.463679;gnomADv4_1_AF_joint=0.360658;gnomADv4_1_AF_joint_XX=0.356691;gnomADv4_1_AF_joint_XY=0.364811;gnomADv4_1_AN_grpmax_joint=41408;gnomADv4_1_AN_joint=151950;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74244;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10368;gnomADv4_1_nhomalt_joint_XX=5195;gnomADv4_1_nhomalt_joint_XY=5173;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27079644 chr22_27079644_G_T G T 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=4.438;CADD_Rawscore=0.404296;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs3895113|||||||||||||||||||||chr22:g.27079644G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=54293;gnomADv4_1_AC_joint_XX=27487;gnomADv4_1_AC_joint_XY=26806;gnomADv4_1_AF_grpmax_joint=0.463503;gnomADv4_1_AF_joint=0.359885;gnomADv4_1_AF_joint_XX=0.356031;gnomADv4_1_AF_joint_XY=0.363925;gnomADv4_1_AN_grpmax_joint=40990;gnomADv4_1_AN_joint=150862;gnomADv4_1_AN_joint_XX=77204;gnomADv4_1_AN_joint_XY=73658;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10242;gnomADv4_1_nhomalt_joint_XX=5141;gnomADv4_1_nhomalt_joint_XY=5101;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27079673 chr22_27079673_CATTATT_C CATTATT C 35 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=35;CADDIndel_PHREDscore=0.707;CADDIndel_Rawscore=-0.106346;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs71322619|||||||||||||||||||||chr22:g.27079710_27079715del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=69921;gnomADv4_1_AC_joint_XX=35480;gnomADv4_1_AC_joint_XY=34441;gnomADv4_1_AF_grpmax_joint=0.726872;gnomADv4_1_AF_joint=0.501852;gnomADv4_1_AF_joint_XX=0.496668;gnomADv4_1_AF_joint_XY=0.507306;gnomADv4_1_AN_grpmax_joint=4994;gnomADv4_1_AN_joint=139326;gnomADv4_1_AN_joint_XX=71436;gnomADv4_1_AN_joint_XY=67890;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17439;gnomADv4_1_nhomalt_joint_XX=8777;gnomADv4_1_nhomalt_joint_XY=8662;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27079682 chr22_27079682_T_C T C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=3.274;CADD_Rawscore=0.300161;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs150177447|||||||||||||||||||||chr22:g.27079682T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=39832;gnomADv4_1_AC_joint_XX=20032;gnomADv4_1_AC_joint_XY=19800;gnomADv4_1_AF_grpmax_joint=0.463821;gnomADv4_1_AF_joint=0.341431;gnomADv4_1_AF_joint_XX=0.335264;gnomADv4_1_AF_joint_XY=0.347906;gnomADv4_1_AN_grpmax_joint=3842;gnomADv4_1_AN_joint=116662;gnomADv4_1_AN_joint_XX=59750;gnomADv4_1_AN_joint_XY=56912;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5671;gnomADv4_1_nhomalt_joint_XX=2805;gnomADv4_1_nhomalt_joint_XY=2866;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27079796 chr22_27079796_G_A G A 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.872;CADD_Rawscore=0.146479;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs71323206|||||||||||||||||||||chr22:g.27079796G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=20121;gnomADv4_1_AC_joint_XX=10527;gnomADv4_1_AC_joint_XY=9594;gnomADv4_1_AF_grpmax_joint=0.219178;gnomADv4_1_AF_joint=0.132537;gnomADv4_1_AF_joint_XX=0.135566;gnomADv4_1_AF_joint_XY=0.129365;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151814;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74162;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1601;gnomADv4_1_nhomalt_joint_XX=860;gnomADv4_1_nhomalt_joint_XY=741;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27080004 chr22_27080004_A_G A G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.079;CADD_Rawscore=0.001914;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs742005|||||||||||||||||||||chr22:g.27080004A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=77829;gnomADv4_1_AC_joint_XX=39730;gnomADv4_1_AC_joint_XY=38099;gnomADv4_1_AF_grpmax_joint=0.586893;gnomADv4_1_AF_joint=0.511972;gnomADv4_1_AF_joint_XX=0.511141;gnomADv4_1_AF_joint_XY=0.512842;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=20198;gnomADv4_1_nhomalt_joint_XX=10232;gnomADv4_1_nhomalt_joint_XY=9966;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27080723 chr22_27080723_G_C G C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.661;CADD_Rawscore=0.114866;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs2205645|||||||||||||||||||||chr22:g.27080723G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=136920;gnomADv4_1_AC_joint_XX=69617;gnomADv4_1_AC_joint_XY=67303;gnomADv4_1_AF_grpmax_joint=0.999227;gnomADv4_1_AF_joint=0.899192;gnomADv4_1_AF_joint_XX=0.894659;gnomADv4_1_AF_joint_XY=0.90393;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152270;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61621;gnomADv4_1_nhomalt_joint_XX=31152;gnomADv4_1_nhomalt_joint_XY=30469;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27080922 chr22_27080922_A_G A G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.008;CADD_Rawscore=-1.32287;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5997166|||||||||||||||||||||chr22:g.27080922A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43835;gnomADv4_1_AC_joint_XX=21881;gnomADv4_1_AC_joint_XY=21954;gnomADv4_1_AF_grpmax_joint=0.455882;gnomADv4_1_AF_joint=0.288278;gnomADv4_1_AF_joint_XX=0.281428;gnomADv4_1_AF_joint_XY=0.295446;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6685;gnomADv4_1_nhomalt_joint_XX=3249;gnomADv4_1_nhomalt_joint_XY=3436;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27081170 chr22_27081170_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=4.003;CADD_Rawscore=0.365521;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4239925|||||||||||||||||||||chr22:g.27081170A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=137184;gnomADv4_1_AC_joint_XX=69787;gnomADv4_1_AC_joint_XY=67397;gnomADv4_1_AF_grpmax_joint=0.999225;gnomADv4_1_AF_joint=0.901423;gnomADv4_1_AF_joint_XX=0.897005;gnomADv4_1_AF_joint_XY=0.906044;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152186;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61897;gnomADv4_1_nhomalt_joint_XX=31315;gnomADv4_1_nhomalt_joint_XY=30582;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27081258 chr22_27081258_T_C T C 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.206;CADD_Rawscore=-0.41888;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs13056543|||||||||||||||||||||chr22:g.27081258T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=20204;gnomADv4_1_AC_joint_XX=10564;gnomADv4_1_AC_joint_XY=9640;gnomADv4_1_AF_grpmax_joint=0.221088;gnomADv4_1_AF_joint=0.132736;gnomADv4_1_AF_joint_XX=0.135795;gnomADv4_1_AF_joint_XY=0.129539;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152212;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1608;gnomADv4_1_nhomalt_joint_XX=865;gnomADv4_1_nhomalt_joint_XY=743;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27081263 chr22_27081263_C_T C T 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.012;CADD_Rawscore=-1.21894;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs13056676|||||||||||||||||||||chr22:g.27081263C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=20209;gnomADv4_1_AC_joint_XX=10566;gnomADv4_1_AC_joint_XY=9643;gnomADv4_1_AF_grpmax_joint=0.219178;gnomADv4_1_AF_joint=0.132764;gnomADv4_1_AF_joint_XX=0.135813;gnomADv4_1_AF_joint_XY=0.129575;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152218;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1605;gnomADv4_1_nhomalt_joint_XX=863;gnomADv4_1_nhomalt_joint_XY=742;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27081297 chr22_27081297_T_C T C 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.018;CADD_Rawscore=-1.09217;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4239926|||||||||||||||||||||chr22:g.27081297T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=136928;gnomADv4_1_AC_joint_XX=69634;gnomADv4_1_AC_joint_XY=67294;gnomADv4_1_AF_grpmax_joint=0.999228;gnomADv4_1_AF_joint=0.89928;gnomADv4_1_AF_joint_XX=0.89474;gnomADv4_1_AF_joint_XY=0.904028;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152264;gnomADv4_1_AN_joint_XX=77826;gnomADv4_1_AN_joint_XY=74438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61630;gnomADv4_1_nhomalt_joint_XX=31161;gnomADv4_1_nhomalt_joint_XY=30469;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27081424 chr22_27081424_T_G T G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=3.793;CADD_Rawscore=0.346884;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs13056916|||||||||||||||||||||chr22:g.27081424T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=20233;gnomADv4_1_AC_joint_XX=10579;gnomADv4_1_AC_joint_XY=9654;gnomADv4_1_AF_grpmax_joint=0.217687;gnomADv4_1_AF_joint=0.132925;gnomADv4_1_AF_joint_XX=0.135973;gnomADv4_1_AF_joint_XY=0.129737;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1617;gnomADv4_1_nhomalt_joint_XX=870;gnomADv4_1_nhomalt_joint_XY=747;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27081626 chr22_27081626_T_C T C 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.346;CADD_Rawscore=0.306796;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs3921130|||||||||||||||||||||chr22:g.27081626T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=136872;gnomADv4_1_AC_joint_XX=69591;gnomADv4_1_AC_joint_XY=67281;gnomADv4_1_AF_grpmax_joint=0.999224;gnomADv4_1_AF_joint=0.899243;gnomADv4_1_AF_joint_XX=0.89467;gnomADv4_1_AF_joint_XY=0.904023;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152208;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61603;gnomADv4_1_nhomalt_joint_XX=31142;gnomADv4_1_nhomalt_joint_XY=30461;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27082559 chr22_27082559_C_T C T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.25;CADD_Rawscore=-0.369126;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5761945|||||||||||||||||||||chr22:g.27082559C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=77540;gnomADv4_1_AC_joint_XX=39583;gnomADv4_1_AC_joint_XY=37957;gnomADv4_1_AF_grpmax_joint=0.586794;gnomADv4_1_AF_joint=0.510286;gnomADv4_1_AF_joint_XX=0.509421;gnomADv4_1_AF_joint_XY=0.511192;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=151954;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=20042;gnomADv4_1_nhomalt_joint_XX=10151;gnomADv4_1_nhomalt_joint_XY=9891;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27082894 chr22_27082894_G_T G T 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=9.248;CADD_Rawscore=0.898992;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs8137199|||||||||||||||||||||chr22:g.27082894G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=54689;gnomADv4_1_AC_joint_XX=27658;gnomADv4_1_AC_joint_XY=27031;gnomADv4_1_AF_grpmax_joint=0.462492;gnomADv4_1_AF_joint=0.359763;gnomADv4_1_AF_joint_XX=0.355849;gnomADv4_1_AF_joint_XY=0.363858;gnomADv4_1_AN_grpmax_joint=41458;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10317;gnomADv4_1_nhomalt_joint_XX=5165;gnomADv4_1_nhomalt_joint_XY=5152;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27083005 chr22_27083005_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=14.07;CADD_Rawscore=1.48127;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs35774586|||||||||||||||||||||chr22:g.27083005G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=20246;gnomADv4_1_AC_joint_XX=10594;gnomADv4_1_AC_joint_XY=9652;gnomADv4_1_AF_grpmax_joint=0.217687;gnomADv4_1_AF_joint=0.13318;gnomADv4_1_AF_joint_XX=0.13631;gnomADv4_1_AF_joint_XY=0.129906;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1622;gnomADv4_1_nhomalt_joint_XX=870;gnomADv4_1_nhomalt_joint_XY=752;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27083211 chr22_27083211_G_C G C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.002;CADD_Rawscore=-1.98049;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5761946|||||||||||||||||||||chr22:g.27083211G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=78158;gnomADv4_1_AC_joint_XX=39889;gnomADv4_1_AC_joint_XY=38269;gnomADv4_1_AF_grpmax_joint=0.590403;gnomADv4_1_AF_joint=0.513853;gnomADv4_1_AF_joint_XX=0.512989;gnomADv4_1_AF_joint_XY=0.514756;gnomADv4_1_AN_grpmax_joint=41492;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20371;gnomADv4_1_nhomalt_joint_XX=10313;gnomADv4_1_nhomalt_joint_XY=10058;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27083356 chr22_27083356_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.369;CADD_Rawscore=0.064215;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs4564899|||||||||||||||||||||chr22:g.27083356G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36090;gnomADv4_1_AC_joint_XX=18339;gnomADv4_1_AC_joint_XY=17751;gnomADv4_1_AF_grpmax_joint=0.415759;gnomADv4_1_AF_joint=0.237437;gnomADv4_1_AF_joint_XX=0.235938;gnomADv4_1_AF_joint_XY=0.239006;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4482;gnomADv4_1_nhomalt_joint_XX=2237;gnomADv4_1_nhomalt_joint_XY=2245;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27083518 chr22_27083518_C_T C T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=7.228;CADD_Rawscore=0.683024;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs17430741|||||||||||||||||||||chr22:g.27083518C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=20251;gnomADv4_1_AC_joint_XX=10597;gnomADv4_1_AC_joint_XY=9654;gnomADv4_1_AF_grpmax_joint=0.217687;gnomADv4_1_AF_joint=0.13306;gnomADv4_1_AF_joint_XX=0.136208;gnomADv4_1_AF_joint_XY=0.129769;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1622;gnomADv4_1_nhomalt_joint_XX=873;gnomADv4_1_nhomalt_joint_XY=749;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27084275 chr22_27084275_G_A G A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.021;CADD_Rawscore=-1.04492;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs2331367|||||||||||||||||||||chr22:g.27084275G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=137001;gnomADv4_1_AC_joint_XX=69670;gnomADv4_1_AC_joint_XY=67331;gnomADv4_1_AF_grpmax_joint=0.999229;gnomADv4_1_AF_joint=0.899429;gnomADv4_1_AF_joint_XX=0.895018;gnomADv4_1_AF_joint_XY=0.904039;gnomADv4_1_AN_grpmax_joint=5186;gnomADv4_1_AN_joint=152320;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61679;gnomADv4_1_nhomalt_joint_XX=31190;gnomADv4_1_nhomalt_joint_XY=30489;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27084405 chr22_27084405_G_A G A 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.395;CADD_Rawscore=-0.251977;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5761948|||||||||||||||||||||chr22:g.27084405G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43213;gnomADv4_1_AC_joint_XX=21553;gnomADv4_1_AC_joint_XY=21660;gnomADv4_1_AF_grpmax_joint=0.555951;gnomADv4_1_AF_joint=0.304725;gnomADv4_1_AF_joint_XX=0.296718;gnomADv4_1_AF_joint_XY=0.313132;gnomADv4_1_AN_grpmax_joint=4218;gnomADv4_1_AN_joint=141810;gnomADv4_1_AN_joint_XX=72638;gnomADv4_1_AN_joint_XY=69172;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6532;gnomADv4_1_nhomalt_joint_XX=3175;gnomADv4_1_nhomalt_joint_XY=3357;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27084415 chr22_27084415_TG_T TG T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=1.702;CADDIndel_Rawscore=0.121395;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs5844738|||||||||||||||||||||chr22:g.27084416del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36913;gnomADv4_1_AC_joint_XX=18791;gnomADv4_1_AC_joint_XY=18122;gnomADv4_1_AF_grpmax_joint=0.40833;gnomADv4_1_AF_joint=0.242865;gnomADv4_1_AF_joint_XX=0.241797;gnomADv4_1_AF_joint_XY=0.243982;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4650;gnomADv4_1_nhomalt_joint_XX=2342;gnomADv4_1_nhomalt_joint_XY=2308;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27084839 chr22_27084839_T_C T C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.17;CADD_Rawscore=-0.470427;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5761949|||||||||||||||||||||chr22:g.27084839T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=136884;gnomADv4_1_AC_joint_XX=69599;gnomADv4_1_AC_joint_XY=67285;gnomADv4_1_AF_grpmax_joint=0.999228;gnomADv4_1_AF_joint=0.898897;gnomADv4_1_AF_joint_XX=0.894336;gnomADv4_1_AF_joint_XY=0.903664;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152280;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74458;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61590;gnomADv4_1_nhomalt_joint_XX=31136;gnomADv4_1_nhomalt_joint_XY=30454;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27084921 chr22_27084921_G_T G T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.99;CADD_Rawscore=-0.020526;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs8138304|||||||||||||||||||||chr22:g.27084921G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35912;gnomADv4_1_AC_joint_XX=18242;gnomADv4_1_AC_joint_XY=17670;gnomADv4_1_AF_grpmax_joint=0.414861;gnomADv4_1_AF_joint=0.236111;gnomADv4_1_AF_joint_XX=0.234672;gnomADv4_1_AF_joint_XY=0.237615;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4483;gnomADv4_1_nhomalt_joint_XX=2240;gnomADv4_1_nhomalt_joint_XY=2243;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27085060 chr22_27085060_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.592;CADD_Rawscore=0.512597;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs8138470|||||||||||||||||||||chr22:g.27085060G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33751;gnomADv4_1_AC_joint_XX=17084;gnomADv4_1_AC_joint_XY=16667;gnomADv4_1_AF_grpmax_joint=0.416118;gnomADv4_1_AF_joint=0.221912;gnomADv4_1_AF_joint_XX=0.219685;gnomADv4_1_AF_joint_XY=0.224242;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3970;gnomADv4_1_nhomalt_joint_XX=1960;gnomADv4_1_nhomalt_joint_XY=2010;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27085214 chr22_27085214_A_G A G 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.933;CADD_Rawscore=-0.035698;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs8140194|||||||||||||||||||||chr22:g.27085214A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=5203;gnomADv4_1_AC_joint_XX=2744;gnomADv4_1_AC_joint_XY=2459;gnomADv4_1_AF_grpmax_joint=0.0714286;gnomADv4_1_AF_joint=0.0341552;gnomADv4_1_AF_joint_XX=0.0352509;gnomADv4_1_AF_joint_XY=0.0330103;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152334;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74492;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=145;gnomADv4_1_nhomalt_joint_XX=73;gnomADv4_1_nhomalt_joint_XY=72;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27085322 chr22_27085322_C_T C T 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=5.995;CADD_Rawscore=0.552657;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs16983597|||||||||||||||||||||chr22:g.27085322C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=40041;gnomADv4_1_AC_joint_XX=20308;gnomADv4_1_AC_joint_XY=19733;gnomADv4_1_AF_grpmax_joint=0.413499;gnomADv4_1_AF_joint=0.263351;gnomADv4_1_AF_joint_XX=0.261223;gnomADv4_1_AF_joint_XY=0.265578;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5499;gnomADv4_1_nhomalt_joint_XX=2774;gnomADv4_1_nhomalt_joint_XY=2725;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27085547 chr22_27085547_T_C T C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=3.309;CADD_Rawscore=0.303367;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs76607763|||||||||||||||||||||chr22:g.27085547T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15736;gnomADv4_1_AC_joint_XX=8119;gnomADv4_1_AC_joint_XY=7617;gnomADv4_1_AF_grpmax_joint=0.15193;gnomADv4_1_AF_joint=0.103434;gnomADv4_1_AF_joint_XX=0.104432;gnomADv4_1_AF_joint_XY=0.10239;gnomADv4_1_AN_grpmax_joint=67972;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1074;gnomADv4_1_nhomalt_joint_XX=562;gnomADv4_1_nhomalt_joint_XY=512;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27085652 chr22_27085652_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.453;CADD_Rawscore=0.079693;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs1474559|||||||||||||||||||||chr22:g.27085652T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=137231;gnomADv4_1_AC_joint_XX=69761;gnomADv4_1_AC_joint_XY=67470;gnomADv4_1_AF_grpmax_joint=0.999229;gnomADv4_1_AF_joint=0.901081;gnomADv4_1_AF_joint_XX=0.896302;gnomADv4_1_AF_joint_XY=0.906075;gnomADv4_1_AN_grpmax_joint=5188;gnomADv4_1_AN_joint=152296;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74464;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61887;gnomADv4_1_nhomalt_joint_XX=31269;gnomADv4_1_nhomalt_joint_XY=30618;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27086519 chr22_27086519_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.83;CADD_Rawscore=-0.06587;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs1883115|||||||||||||||||||||chr22:g.27086519A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=143952;gnomADv4_1_AC_joint_XX=73276;gnomADv4_1_AC_joint_XY=70676;gnomADv4_1_AF_grpmax_joint=0.99884;gnomADv4_1_AF_joint=0.945249;gnomADv4_1_AF_joint_XX=0.941536;gnomADv4_1_AF_joint_XY=0.94913;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152290;gnomADv4_1_AN_joint_XX=77826;gnomADv4_1_AN_joint_XY=74464;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=68107;gnomADv4_1_nhomalt_joint_XX=34531;gnomADv4_1_nhomalt_joint_XY=33576;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27086664 chr22_27086664_C_T C T 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.141;CADD_Rawscore=-0.519609;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs1883116|||||||||||||||||||||chr22:g.27086664C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=137460;gnomADv4_1_AC_joint_XX=69836;gnomADv4_1_AC_joint_XY=67624;gnomADv4_1_AF_grpmax_joint=0.999417;gnomADv4_1_AF_joint=0.903415;gnomADv4_1_AF_joint_XX=0.898027;gnomADv4_1_AF_joint_XY=0.909047;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=62284;gnomADv4_1_nhomalt_joint_XX=31452;gnomADv4_1_nhomalt_joint_XY=30832;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27086676 chr22_27086676_G_T G T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=18.06;CADD_Rawscore=2.28755;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs1883117|||||||||||||||||||||chr22:g.27086676G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=59893;gnomADv4_1_AC_joint_XX=30220;gnomADv4_1_AC_joint_XY=29673;gnomADv4_1_AF_grpmax_joint=0.521165;gnomADv4_1_AF_joint=0.394028;gnomADv4_1_AF_joint_XX=0.388902;gnomADv4_1_AF_joint_XY=0.399389;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152002;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12118;gnomADv4_1_nhomalt_joint_XX=5951;gnomADv4_1_nhomalt_joint_XY=6167;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27087409 chr22_27087409_T_C T C 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.568;CADD_Rawscore=-0.161457;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs11912263|||||||||||||||||||||chr22:g.27087409T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37909;gnomADv4_1_AC_joint_XX=18971;gnomADv4_1_AC_joint_XY=18938;gnomADv4_1_AF_grpmax_joint=0.47124;gnomADv4_1_AF_joint=0.249378;gnomADv4_1_AF_joint_XX=0.244057;gnomADv4_1_AF_joint_XY=0.254947;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5109;gnomADv4_1_nhomalt_joint_XX=2466;gnomADv4_1_nhomalt_joint_XY=2643;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27087518 chr22_27087518_G_C G C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.112;CADD_Rawscore=-0.581472;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs28709584|||||||||||||||||||||chr22:g.27087518G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=30708;gnomADv4_1_AC_joint_XX=15297;gnomADv4_1_AC_joint_XY=15411;gnomADv4_1_AF_grpmax_joint=0.383418;gnomADv4_1_AF_joint=0.202266;gnomADv4_1_AF_joint_XX=0.196989;gnomADv4_1_AF_joint_XY=0.207791;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=151820;gnomADv4_1_AN_joint_XX=77654;gnomADv4_1_AN_joint_XY=74166;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3505;gnomADv4_1_nhomalt_joint_XX=1696;gnomADv4_1_nhomalt_joint_XY=1809;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27087578 chr22_27087578_G_GTATC G GTATC 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.185;CADDIndel_Rawscore=-0.447024;CSQ=TATC|intergenic_variant|MODIFIER|||||||||||||||rs139848451|||||||||||||||||||||chr22:g.27087594_27087597dup|||||||||||||;TYPE=INDEL;VEP_Allele=TATC;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=27838;gnomADv4_1_AC_joint_XX=14454;gnomADv4_1_AC_joint_XY=13384;gnomADv4_1_AF_grpmax_joint=0.360167;gnomADv4_1_AF_joint=0.276242;gnomADv4_1_AF_joint_XX=0.278379;gnomADv4_1_AF_joint_XY=0.27397;gnomADv4_1_AN_grpmax_joint=50074;gnomADv4_1_AN_joint=100774;gnomADv4_1_AN_joint_XX=51922;gnomADv4_1_AN_joint_XY=48852;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3224;gnomADv4_1_nhomalt_joint_XX=1715;gnomADv4_1_nhomalt_joint_XY=1509;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27087594 chr22_27087594_CTATA_C CTATA C 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=2.078;CADDIndel_Rawscore=0.174081;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs56238994|||||||||||||||||||||chr22:g.27087598_27087601del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=31817;gnomADv4_1_AC_joint_XX=15825;gnomADv4_1_AC_joint_XY=15992;gnomADv4_1_AF_grpmax_joint=0.365625;gnomADv4_1_AF_joint=0.212604;gnomADv4_1_AF_joint_XX=0.207052;gnomADv4_1_AF_joint_XY=0.218398;gnomADv4_1_AN_grpmax_joint=5120;gnomADv4_1_AN_joint=149654;gnomADv4_1_AN_joint_XX=76430;gnomADv4_1_AN_joint_XY=73224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3741;gnomADv4_1_nhomalt_joint_XX=1808;gnomADv4_1_nhomalt_joint_XY=1933;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27087656 chr22_27087656_C_G C G 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.547;CADD_Rawscore=0.096266;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs28688114|||||||||||||||||||||chr22:g.27087656C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=31313;gnomADv4_1_AC_joint_XX=15547;gnomADv4_1_AC_joint_XY=15766;gnomADv4_1_AF_grpmax_joint=0.382933;gnomADv4_1_AF_joint=0.205977;gnomADv4_1_AF_joint_XX=0.200049;gnomADv4_1_AF_joint_XY=0.212177;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3636;gnomADv4_1_nhomalt_joint_XX=1755;gnomADv4_1_nhomalt_joint_XY=1881;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27087757 chr22_27087757_A_G A G 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.027;CADD_Rawscore=-0.974627;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs6519698|||||||||||||||||||||chr22:g.27087757A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=75919;gnomADv4_1_AC_joint_XX=38780;gnomADv4_1_AC_joint_XY=37139;gnomADv4_1_AF_grpmax_joint=0.561618;gnomADv4_1_AF_joint=0.499533;gnomADv4_1_AF_joint_XX=0.499048;gnomADv4_1_AF_joint_XY=0.50004;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=151980;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=19387;gnomADv4_1_nhomalt_joint_XX=9798;gnomADv4_1_nhomalt_joint_XY=9589;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27088218 chr22_27088218_G_T G T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.85;CADD_Rawscore=-0.059756;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RHL4|open_chromatin_region||||||||||rs6519700|||||||||||||||||||||chr22:g.27088218G>T|||||||||||||,T|intergenic_variant|MODIFIER|||||||||||||||rs6519700|||||||||||||||||||||chr22:g.27088218G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENSR22_8RHL4,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=143807;gnomADv4_1_AC_joint_XX=73214;gnomADv4_1_AC_joint_XY=70593;gnomADv4_1_AF_grpmax_joint=0.999421;gnomADv4_1_AF_joint=0.944198;gnomADv4_1_AF_joint_XX=0.940546;gnomADv4_1_AF_joint_XY=0.948015;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152306;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74464;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67957;gnomADv4_1_nhomalt_joint_XX=34460;gnomADv4_1_nhomalt_joint_XY=33497;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27088427 chr22_27088427_T_C T C 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=4.368;CADD_Rawscore=0.397985;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs34550152|||||||||||||||||||||chr22:g.27088427T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37608;gnomADv4_1_AC_joint_XX=18845;gnomADv4_1_AC_joint_XY=18763;gnomADv4_1_AF_grpmax_joint=0.468556;gnomADv4_1_AF_joint=0.247294;gnomADv4_1_AF_joint_XX=0.242373;gnomADv4_1_AF_joint_XY=0.252442;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5056;gnomADv4_1_nhomalt_joint_XX=2439;gnomADv4_1_nhomalt_joint_XY=2617;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27088514 chr22_27088514_G_A G A 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=6.895;CADD_Rawscore=0.64672;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5752482|||||||||||||||||||||chr22:g.27088514G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=65313;gnomADv4_1_AC_joint_XX=33085;gnomADv4_1_AC_joint_XY=32228;gnomADv4_1_AF_grpmax_joint=0.525552;gnomADv4_1_AF_joint=0.429493;gnomADv4_1_AF_joint_XX=0.425651;gnomADv4_1_AF_joint_XY=0.43351;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14450;gnomADv4_1_nhomalt_joint_XX=7171;gnomADv4_1_nhomalt_joint_XY=7279;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27089149 chr22_27089149_C_T C T 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=2.06;CADD_Rawscore=0.171831;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs10854797|||||||||||||||||||||chr22:g.27089149C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37045;gnomADv4_1_AC_joint_XX=18548;gnomADv4_1_AC_joint_XY=18497;gnomADv4_1_AF_grpmax_joint=0.468106;gnomADv4_1_AF_joint=0.243631;gnomADv4_1_AF_joint_XX=0.238547;gnomADv4_1_AF_joint_XY=0.24895;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=152054;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4967;gnomADv4_1_nhomalt_joint_XX=2397;gnomADv4_1_nhomalt_joint_XY=2570;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27089303 chr22_27089303_A_AG A AG 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=3.99;CADDIndel_Rawscore=0.364345;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5844739|||||||||||||||||||||chr22:g.27089304dup|||||||||||||;TYPE=INDEL;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=151860;gnomADv4_1_AC_joint_XX=77612;gnomADv4_1_AC_joint_XY=74248;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.997334;gnomADv4_1_AF_joint_XX=0.997353;gnomADv4_1_AF_joint_XY=0.997314;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152266;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75727;gnomADv4_1_nhomalt_joint_XX=38703;gnomADv4_1_nhomalt_joint_XY=37024;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27089339 chr22_27089339_G_A G A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.63;CADD_Rawscore=0.10997;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs760528|||||||||||||||||||||chr22:g.27089339G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36940;gnomADv4_1_AC_joint_XX=18632;gnomADv4_1_AC_joint_XY=18308;gnomADv4_1_AF_grpmax_joint=0.385968;gnomADv4_1_AF_joint=0.242905;gnomADv4_1_AF_joint_XX=0.239646;gnomADv4_1_AF_joint_XY=0.246314;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4790;gnomADv4_1_nhomalt_joint_XX=2384;gnomADv4_1_nhomalt_joint_XY=2406;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27089383 chr22_27089383_C_T C T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=5.607;CADD_Rawscore=0.514028;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs760529|||||||||||||||||||||chr22:g.27089383C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=30894;gnomADv4_1_AC_joint_XX=15396;gnomADv4_1_AC_joint_XY=15498;gnomADv4_1_AF_grpmax_joint=0.383514;gnomADv4_1_AF_joint=0.203108;gnomADv4_1_AF_joint_XX=0.197999;gnomADv4_1_AF_joint_XY=0.208452;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152106;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3546;gnomADv4_1_nhomalt_joint_XX=1718;gnomADv4_1_nhomalt_joint_XY=1828;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27089520 chr22_27089520_C_G C G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=7.346;CADD_Rawscore=0.695983;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs62222827|||||||||||||||||||||chr22:g.27089520C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=30226;gnomADv4_1_AC_joint_XX=15683;gnomADv4_1_AC_joint_XY=14543;gnomADv4_1_AF_grpmax_joint=0.287121;gnomADv4_1_AF_joint=0.198837;gnomADv4_1_AF_joint_XX=0.201783;gnomADv4_1_AF_joint_XY=0.195755;gnomADv4_1_AN_grpmax_joint=67954;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3833;gnomADv4_1_nhomalt_joint_XX=2038;gnomADv4_1_nhomalt_joint_XY=1795;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27089650 chr22_27089650_T_G T G 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=4.991;CADD_Rawscore=0.455037;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs9608574|||||||||||||||||||||chr22:g.27089650T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=31425;gnomADv4_1_AC_joint_XX=15627;gnomADv4_1_AC_joint_XY=15798;gnomADv4_1_AF_grpmax_joint=0.387827;gnomADv4_1_AF_joint=0.207785;gnomADv4_1_AF_joint_XX=0.201779;gnomADv4_1_AF_joint_XY=0.214088;gnomADv4_1_AN_grpmax_joint=5126;gnomADv4_1_AN_joint=151238;gnomADv4_1_AN_joint_XX=77446;gnomADv4_1_AN_joint_XY=73792;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3662;gnomADv4_1_nhomalt_joint_XX=1772;gnomADv4_1_nhomalt_joint_XY=1890;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27089950 chr22_27089950_C_T C T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.002;CADD_Rawscore=-1.78315;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs77353784|||||||||||||||||||||chr22:g.27089950C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=31025;gnomADv4_1_AC_joint_XX=16099;gnomADv4_1_AC_joint_XY=14926;gnomADv4_1_AF_grpmax_joint=0.26762;gnomADv4_1_AF_joint=0.204276;gnomADv4_1_AF_joint_XX=0.207258;gnomADv4_1_AF_joint_XY=0.201154;gnomADv4_1_AN_grpmax_joint=67936;gnomADv4_1_AN_joint=151878;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3597;gnomADv4_1_nhomalt_joint_XX=1909;gnomADv4_1_nhomalt_joint_XY=1688;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27089997 chr22_27089997_A_G A G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.464;CADD_Rawscore=0.219702;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs760530|||||||||||||||||||||chr22:g.27089997A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=31362;gnomADv4_1_AC_joint_XX=15582;gnomADv4_1_AC_joint_XY=15780;gnomADv4_1_AF_grpmax_joint=0.385465;gnomADv4_1_AF_joint=0.206093;gnomADv4_1_AF_joint_XX=0.200334;gnomADv4_1_AF_joint_XY=0.212114;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152174;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3646;gnomADv4_1_nhomalt_joint_XX=1762;gnomADv4_1_nhomalt_joint_XY=1884;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27090264 chr22_27090264_C_CTT C CTT 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.639;CADDIndel_Rawscore=-0.131957;CSQ=TT|intergenic_variant|MODIFIER|||||||||||||||rs34617906|||||||||||||||||||||chr22:g.27090274_27090275dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=34189;gnomADv4_1_AC_joint_XX=17968;gnomADv4_1_AC_joint_XY=16221;gnomADv4_1_AF_grpmax_joint=0.28169;gnomADv4_1_AF_joint=0.230813;gnomADv4_1_AF_joint_XX=0.236253;gnomADv4_1_AF_joint_XY=0.225073;gnomADv4_1_AN_grpmax_joint=284;gnomADv4_1_AN_joint=148124;gnomADv4_1_AN_joint_XX=76054;gnomADv4_1_AN_joint_XY=72070;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4100;gnomADv4_1_nhomalt_joint_XX=2225;gnomADv4_1_nhomalt_joint_XY=1875;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27090760 chr22_27090760_A_G A G 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=1.739;CADD_Rawscore=0.127054;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs9608575|||||||||||||||||||||chr22:g.27090760A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=48603;gnomADv4_1_AC_joint_XX=24182;gnomADv4_1_AC_joint_XY=24421;gnomADv4_1_AF_grpmax_joint=0.487947;gnomADv4_1_AF_joint=0.319395;gnomADv4_1_AF_joint_XX=0.310871;gnomADv4_1_AF_joint_XY=0.32831;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=152172;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8295;gnomADv4_1_nhomalt_joint_XX=4016;gnomADv4_1_nhomalt_joint_XY=4279;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27091016 chr22_27091016_G_C G C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.83;CADD_Rawscore=-0.065745;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs909490|||||||||||||||||||||chr22:g.27091016G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=59179;gnomADv4_1_AC_joint_XX=29879;gnomADv4_1_AC_joint_XY=29300;gnomADv4_1_AF_grpmax_joint=0.473552;gnomADv4_1_AF_joint=0.388987;gnomADv4_1_AF_joint_XX=0.384237;gnomADv4_1_AF_joint_XY=0.393955;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12597;gnomADv4_1_nhomalt_joint_XX=6284;gnomADv4_1_nhomalt_joint_XY=6313;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27091160 chr22_27091160_C_CTGGA C CTGGA 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.032;CADDIndel_Rawscore=-0.924172;CSQ=TGGA|intergenic_variant|MODIFIER|||||||||||||||rs34246529|||||||||||||||||||||chr22:g.27091161_27091164dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGGA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=101051;gnomADv4_1_AC_joint_XX=51052;gnomADv4_1_AC_joint_XY=49999;gnomADv4_1_AF_grpmax_joint=0.863813;gnomADv4_1_AF_joint=0.666563;gnomADv4_1_AF_joint_XX=0.658532;gnomADv4_1_AF_joint_XY=0.674969;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151600;gnomADv4_1_AN_joint_XX=77524;gnomADv4_1_AN_joint_XY=74076;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34592;gnomADv4_1_nhomalt_joint_XX=17255;gnomADv4_1_nhomalt_joint_XY=17337;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27091270 chr22_27091270_A_G A G 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=6.055;CADD_Rawscore=0.55877;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4547629|||||||||||||||||||||chr22:g.27091270A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=107500;gnomADv4_1_AC_joint_XX=54066;gnomADv4_1_AC_joint_XY=53434;gnomADv4_1_AF_grpmax_joint=0.91828;gnomADv4_1_AF_joint=0.706512;gnomADv4_1_AF_joint_XX=0.695132;gnomADv4_1_AF_joint_XY=0.718411;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=38264;gnomADv4_1_nhomalt_joint_XX=18872;gnomADv4_1_nhomalt_joint_XY=19392;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27091280 chr22_27091280_A_G A G 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.229;CADD_Rawscore=-0.391367;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs9613372|||||||||||||||||||||chr22:g.27091280A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=82556;gnomADv4_1_AC_joint_XX=41784;gnomADv4_1_AC_joint_XY=40772;gnomADv4_1_AF_grpmax_joint=0.707057;gnomADv4_1_AF_joint=0.54256;gnomADv4_1_AF_joint_XX=0.537304;gnomADv4_1_AF_joint_XY=0.548055;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23075;gnomADv4_1_nhomalt_joint_XX=11616;gnomADv4_1_nhomalt_joint_XY=11459;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27091618 chr22_27091618_A_G A G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.142;CADD_Rawscore=0.016596;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4822847|||||||||||||||||||||chr22:g.27091618A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37360;gnomADv4_1_AC_joint_XX=18433;gnomADv4_1_AC_joint_XY=18927;gnomADv4_1_AF_grpmax_joint=0.599575;gnomADv4_1_AF_joint=0.245441;gnomADv4_1_AF_joint_XX=0.236958;gnomADv4_1_AF_joint_XY=0.254306;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152216;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5327;gnomADv4_1_nhomalt_joint_XX=2526;gnomADv4_1_nhomalt_joint_XY=2801;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27091835 chr22_27091835_A_G A G 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=4.642;CADD_Rawscore=0.42277;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs7288957|||||||||||||||||||||chr22:g.27091835A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=9477;gnomADv4_1_AC_joint_XX=4896;gnomADv4_1_AC_joint_XY=4581;gnomADv4_1_AF_grpmax_joint=0.126712;gnomADv4_1_AF_joint=0.0622889;gnomADv4_1_AF_joint_XX=0.0629468;gnomADv4_1_AF_joint_XY=0.0616007;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=385;gnomADv4_1_nhomalt_joint_XX=208;gnomADv4_1_nhomalt_joint_XY=177;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27091853 chr22_27091853_A_G A G 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=5.804;CADD_Rawscore=0.533464;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4822848|||||||||||||||||||||chr22:g.27091853A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=28275;gnomADv4_1_AC_joint_XX=13677;gnomADv4_1_AC_joint_XY=14598;gnomADv4_1_AF_grpmax_joint=0.630841;gnomADv4_1_AF_joint=0.186054;gnomADv4_1_AF_joint_XX=0.176041;gnomADv4_1_AF_joint_XY=0.196527;gnomADv4_1_AN_grpmax_joint=5136;gnomADv4_1_AN_joint=151972;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3558;gnomADv4_1_nhomalt_joint_XX=1629;gnomADv4_1_nhomalt_joint_XY=1929;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27092156 chr22_27092156_GAGA_G GAGA G 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=1.209;CADDIndel_Rawscore=0.031553;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs10580097|||||||||||||||||||||chr22:g.27092164_27092166del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=29771;gnomADv4_1_AC_joint_XX=14692;gnomADv4_1_AC_joint_XY=15079;gnomADv4_1_AF_grpmax_joint=0.57331;gnomADv4_1_AF_joint=0.196565;gnomADv4_1_AF_joint_XX=0.189589;gnomADv4_1_AF_joint_XY=0.203875;gnomADv4_1_AN_grpmax_joint=5088;gnomADv4_1_AN_joint=151456;gnomADv4_1_AN_joint_XX=77494;gnomADv4_1_AN_joint_XY=73962;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3608;gnomADv4_1_nhomalt_joint_XX=1697;gnomADv4_1_nhomalt_joint_XY=1911;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27092559 chr22_27092559_T_TA T TA 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.238;CADDIndel_Rawscore=-0.381865;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5844740|||||||||||||||||||||chr22:g.27092563dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=134801;gnomADv4_1_AC_joint_XX=68614;gnomADv4_1_AC_joint_XY=66187;gnomADv4_1_AF_grpmax_joint=0.999225;gnomADv4_1_AF_joint=0.887924;gnomADv4_1_AF_joint_XX=0.883882;gnomADv4_1_AF_joint_XY=0.892152;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=151816;gnomADv4_1_AN_joint_XX=77628;gnomADv4_1_AN_joint_XY=74188;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=60048;gnomADv4_1_nhomalt_joint_XX=30404;gnomADv4_1_nhomalt_joint_XY=29644;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27092564 chr22_27092564_T_G T G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.161;CADD_Rawscore=-0.484291;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4997196|||||||||||||||||||||chr22:g.27092564T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=134894;gnomADv4_1_AC_joint_XX=68650;gnomADv4_1_AC_joint_XY=66244;gnomADv4_1_AF_grpmax_joint=0.999227;gnomADv4_1_AF_joint=0.887975;gnomADv4_1_AF_joint_XX=0.88389;gnomADv4_1_AF_joint_XY=0.892247;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=151912;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74244;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=60092;gnomADv4_1_nhomalt_joint_XX=30420;gnomADv4_1_nhomalt_joint_XY=29672;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27092642 chr22_27092642_C_T C T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.578;CADD_Rawscore=-0.157013;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs932291|||||||||||||||||||||chr22:g.27092642C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=101527;gnomADv4_1_AC_joint_XX=51448;gnomADv4_1_AC_joint_XY=50079;gnomADv4_1_AF_grpmax_joint=0.994404;gnomADv4_1_AF_joint=0.668874;gnomADv4_1_AF_joint_XX=0.66258;gnomADv4_1_AF_joint_XY=0.675465;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=151788;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74140;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34549;gnomADv4_1_nhomalt_joint_XX=17345;gnomADv4_1_nhomalt_joint_XY=17204;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27092728 chr22_27092728_C_T C T 58 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=5.475;CADD_Rawscore=0.501135;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs62222828|||||||||||||||||||||chr22:g.27092728C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=32682;gnomADv4_1_AC_joint_XX=16935;gnomADv4_1_AC_joint_XY=15747;gnomADv4_1_AF_grpmax_joint=0.337418;gnomADv4_1_AF_joint=0.301367;gnomADv4_1_AF_joint_XX=0.297523;gnomADv4_1_AF_joint_XY=0.305613;gnomADv4_1_AN_grpmax_joint=2448;gnomADv4_1_AN_joint=108446;gnomADv4_1_AN_joint_XX=56920;gnomADv4_1_AN_joint_XY=51526;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3877;gnomADv4_1_nhomalt_joint_XX=2060;gnomADv4_1_nhomalt_joint_XY=1817;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27092739 chr22_27092739_G_GCA G GCA 48 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.905;CADDIndel_Rawscore=-0.043573;CSQ=CA|intergenic_variant|MODIFIER|||||||||||||||rs3040978|||||||||||||||||||||chr22:g.27092750_27092751dup|||||||||||||;TYPE=INDEL;VEP_Allele=CA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=134193;gnomADv4_1_AC_joint_XX=68345;gnomADv4_1_AC_joint_XY=65848;gnomADv4_1_AF_grpmax_joint=0.99922;gnomADv4_1_AF_joint=0.887954;gnomADv4_1_AF_joint_XX=0.883833;gnomADv4_1_AF_joint_XY=0.892274;gnomADv4_1_AN_grpmax_joint=5126;gnomADv4_1_AN_joint=151126;gnomADv4_1_AN_joint_XX=77328;gnomADv4_1_AN_joint_XY=73798;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=59752;gnomADv4_1_nhomalt_joint_XX=30266;gnomADv4_1_nhomalt_joint_XY=29486;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27092898 chr22_27092898_C_T C T 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.937;CADD_Rawscore=-0.034629;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs57817591|||||||||||||||||||||chr22:g.27092898C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=65641;gnomADv4_1_AC_joint_XX=33625;gnomADv4_1_AC_joint_XY=32016;gnomADv4_1_AF_grpmax_joint=0.62068;gnomADv4_1_AF_joint=0.469932;gnomADv4_1_AF_joint_XX=0.468824;gnomADv4_1_AF_joint_XY=0.471101;gnomADv4_1_AN_grpmax_joint=3472;gnomADv4_1_AN_joint=139682;gnomADv4_1_AN_joint_XX=71722;gnomADv4_1_AN_joint_XY=67960;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15605;gnomADv4_1_nhomalt_joint_XX=7988;gnomADv4_1_nhomalt_joint_XY=7617;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27092900 chr22_27092900_CG_C CG C 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.773;CADDIndel_Rawscore=-0.083874;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs11333072|||||||||||||||||||||chr22:g.27092901del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=100992;gnomADv4_1_AC_joint_XX=51195;gnomADv4_1_AC_joint_XY=49797;gnomADv4_1_AF_grpmax_joint=0.994179;gnomADv4_1_AF_joint=0.668308;gnomADv4_1_AF_joint_XX=0.662273;gnomADv4_1_AF_joint_XY=0.674628;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151116;gnomADv4_1_AN_joint_XX=77302;gnomADv4_1_AN_joint_XY=73814;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34334;gnomADv4_1_nhomalt_joint_XX=17252;gnomADv4_1_nhomalt_joint_XY=17082;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27092952 chr22_27092952_C_A C A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.463;CADD_Rawscore=-0.212458;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs13053723|||||||||||||||||||||chr22:g.27092952C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=65670;gnomADv4_1_AC_joint_XX=33626;gnomADv4_1_AC_joint_XY=32044;gnomADv4_1_AF_grpmax_joint=0.537487;gnomADv4_1_AF_joint=0.434866;gnomADv4_1_AF_joint_XX=0.435367;gnomADv4_1_AF_joint_XY=0.434342;gnomADv4_1_AN_grpmax_joint=15232;gnomADv4_1_AN_joint=151012;gnomADv4_1_AN_joint_XX=77236;gnomADv4_1_AN_joint_XY=73776;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=15632;gnomADv4_1_nhomalt_joint_XX=7999;gnomADv4_1_nhomalt_joint_XY=7633;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27092992 chr22_27092992_A_G A G 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=3.493;CADD_Rawscore=0.320092;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs189659126|||||||||||||||||||||chr22:g.27092992A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=3901;gnomADv4_1_AC_joint_XX=2066;gnomADv4_1_AC_joint_XY=1835;gnomADv4_1_AF_grpmax_joint=0.0486111;gnomADv4_1_AF_joint=0.0257774;gnomADv4_1_AF_joint_XX=0.0267243;gnomADv4_1_AF_joint_XY=0.0247886;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=151334;gnomADv4_1_AN_joint_XX=77308;gnomADv4_1_AN_joint_XY=74026;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=90;gnomADv4_1_nhomalt_joint_XX=42;gnomADv4_1_nhomalt_joint_XY=48;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27093004 chr22_27093004_C_G C G 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.509;CADD_Rawscore=-0.188911;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs13053895|||||||||||||||||||||chr22:g.27093004C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=100005;gnomADv4_1_AC_joint_XX=50687;gnomADv4_1_AC_joint_XY=49318;gnomADv4_1_AF_grpmax_joint=0.993552;gnomADv4_1_AF_joint=0.665511;gnomADv4_1_AF_joint_XX=0.659317;gnomADv4_1_AF_joint_XY=0.671999;gnomADv4_1_AN_grpmax_joint=5118;gnomADv4_1_AN_joint=150268;gnomADv4_1_AN_joint_XX=76878;gnomADv4_1_AN_joint_XY=73390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=33796;gnomADv4_1_nhomalt_joint_XX=16976;gnomADv4_1_nhomalt_joint_XY=16820;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27093028 chr22_27093028_C_A C A 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.612;CADD_Rawscore=-0.142651;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5752483|||||||||||||||||||||chr22:g.27093028C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=99591;gnomADv4_1_AC_joint_XX=50528;gnomADv4_1_AC_joint_XY=49063;gnomADv4_1_AF_grpmax_joint=0.994111;gnomADv4_1_AF_joint=0.664622;gnomADv4_1_AF_joint_XX=0.658757;gnomADv4_1_AF_joint_XY=0.670773;gnomADv4_1_AN_grpmax_joint=5094;gnomADv4_1_AN_joint=149846;gnomADv4_1_AN_joint_XX=76702;gnomADv4_1_AN_joint_XY=73144;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=33556;gnomADv4_1_nhomalt_joint_XX=16877;gnomADv4_1_nhomalt_joint_XY=16679;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27093086 chr22_27093086_CACA_C CACA C 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.339;CADDIndel_Rawscore=-0.291126;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs57247957|||||||||||||||||||||chr22:g.27093090_27093092del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=22588;gnomADv4_1_AC_joint_XX=10948;gnomADv4_1_AC_joint_XY=11640;gnomADv4_1_AF_grpmax_joint=0.524752;gnomADv4_1_AF_joint=0.149465;gnomADv4_1_AF_joint_XX=0.141604;gnomADv4_1_AF_joint_XY=0.157698;gnomADv4_1_AN_grpmax_joint=5050;gnomADv4_1_AN_joint=151126;gnomADv4_1_AN_joint_XX=77314;gnomADv4_1_AN_joint_XY=73812;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2276;gnomADv4_1_nhomalt_joint_XX=1056;gnomADv4_1_nhomalt_joint_XY=1220;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27093117 chr22_27093117_A_G A G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=4.301;CADD_Rawscore=0.392012;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5761953|||||||||||||||||||||chr22:g.27093117A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=64860;gnomADv4_1_AC_joint_XX=33218;gnomADv4_1_AC_joint_XY=31642;gnomADv4_1_AF_grpmax_joint=0.53965;gnomADv4_1_AF_joint=0.435864;gnomADv4_1_AF_joint_XX=0.436413;gnomADv4_1_AF_joint_XY=0.435289;gnomADv4_1_AN_grpmax_joint=15082;gnomADv4_1_AN_joint=148808;gnomADv4_1_AN_joint_XX=76116;gnomADv4_1_AN_joint_XY=72692;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=15659;gnomADv4_1_nhomalt_joint_XX=8009;gnomADv4_1_nhomalt_joint_XY=7650;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27093140 chr22_27093140_C_T C T 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.998;CADD_Rawscore=0.163716;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5761954|||||||||||||||||||||chr22:g.27093140C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=88344;gnomADv4_1_AC_joint_XX=44615;gnomADv4_1_AC_joint_XY=43729;gnomADv4_1_AF_grpmax_joint=0.946477;gnomADv4_1_AF_joint=0.625657;gnomADv4_1_AF_joint_XX=0.619206;gnomADv4_1_AF_joint_XY=0.632379;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=141202;gnomADv4_1_AN_joint_XX=72052;gnomADv4_1_AN_joint_XY=69150;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=27857;gnomADv4_1_nhomalt_joint_XX=13927;gnomADv4_1_nhomalt_joint_XY=13930;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27093146 chr22_27093146_TCA_T TCA T 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.294;CADDIndel_Rawscore=-0.327212;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs78587183|||||||||||||||||||||chr22:g.27093151_27093152del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33675;gnomADv4_1_AC_joint_XX=17420;gnomADv4_1_AC_joint_XY=16255;gnomADv4_1_AF_grpmax_joint=0.264959;gnomADv4_1_AF_joint=0.226061;gnomADv4_1_AF_joint_XX=0.228243;gnomADv4_1_AF_joint_XY=0.223769;gnomADv4_1_AN_grpmax_joint=67350;gnomADv4_1_AN_joint=148964;gnomADv4_1_AN_joint_XX=76322;gnomADv4_1_AN_joint_XY=72642;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4549;gnomADv4_1_nhomalt_joint_XX=2412;gnomADv4_1_nhomalt_joint_XY=2137;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27093171 chr22_27093171_T_C T C 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.286;CADD_Rawscore=-0.334687;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5752484|||||||||||||||||||||chr22:g.27093171T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=100327;gnomADv4_1_AC_joint_XX=50800;gnomADv4_1_AC_joint_XY=49527;gnomADv4_1_AF_grpmax_joint=0.993988;gnomADv4_1_AF_joint=0.670796;gnomADv4_1_AF_joint_XX=0.664278;gnomADv4_1_AF_joint_XY=0.677617;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=149564;gnomADv4_1_AN_joint_XX=76474;gnomADv4_1_AN_joint_XY=73090;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34364;gnomADv4_1_nhomalt_joint_XX=17237;gnomADv4_1_nhomalt_joint_XY=17127;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27093183 chr22_27093183_C_T C T 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.499;CADD_Rawscore=-0.193684;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5761955|||||||||||||||||||||chr22:g.27093183C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=134148;gnomADv4_1_AC_joint_XX=68268;gnomADv4_1_AC_joint_XY=65880;gnomADv4_1_AF_grpmax_joint=0.999227;gnomADv4_1_AF_joint=0.888809;gnomADv4_1_AF_joint_XX=0.884759;gnomADv4_1_AF_joint_XY=0.893046;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=150930;gnomADv4_1_AN_joint_XX=77160;gnomADv4_1_AN_joint_XY=73770;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=59827;gnomADv4_1_nhomalt_joint_XX=30283;gnomADv4_1_nhomalt_joint_XY=29544;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27093331 chr22_27093331_T_C T C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.301;CADD_Rawscore=-0.321152;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5761956|||||||||||||||||||||chr22:g.27093331T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=101489;gnomADv4_1_AC_joint_XX=51445;gnomADv4_1_AC_joint_XY=50044;gnomADv4_1_AF_grpmax_joint=0.994163;gnomADv4_1_AF_joint=0.670425;gnomADv4_1_AF_joint_XX=0.664252;gnomADv4_1_AF_joint_XY=0.676892;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151380;gnomADv4_1_AN_joint_XX=77448;gnomADv4_1_AN_joint_XY=73932;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34511;gnomADv4_1_nhomalt_joint_XX=17336;gnomADv4_1_nhomalt_joint_XY=17175;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27093348 chr22_27093348_A_C A C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.198;CADD_Rawscore=-0.429186;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5761957|||||||||||||||||||||chr22:g.27093348A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=134853;gnomADv4_1_AC_joint_XX=68629;gnomADv4_1_AC_joint_XY=66224;gnomADv4_1_AF_grpmax_joint=0.99903;gnomADv4_1_AF_joint=0.887868;gnomADv4_1_AF_joint_XX=0.883802;gnomADv4_1_AF_joint_XY=0.892122;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151884;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=60062;gnomADv4_1_nhomalt_joint_XX=30403;gnomADv4_1_nhomalt_joint_XY=29659;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27093409 chr22_27093409_C_G C G 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.349;CADD_Rawscore=0.060236;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs111396186|||||||||||||||||||||chr22:g.27093409C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=22955;gnomADv4_1_AC_joint_XX=11121;gnomADv4_1_AC_joint_XY=11834;gnomADv4_1_AF_grpmax_joint=0.527411;gnomADv4_1_AF_joint=0.151077;gnomADv4_1_AF_joint_XX=0.143142;gnomADv4_1_AF_joint_XY=0.15938;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=151942;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2321;gnomADv4_1_nhomalt_joint_XX=1083;gnomADv4_1_nhomalt_joint_XY=1238;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27093470 chr22_27093470_C_A C A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.296;CADD_Rawscore=-0.325705;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs181928905|||||||||||||||||||||chr22:g.27093470C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=351;gnomADv4_1_AC_joint_XX=153;gnomADv4_1_AC_joint_XY=198;gnomADv4_1_AF_grpmax_joint=0.0102041;gnomADv4_1_AF_joint=0.00230897;gnomADv4_1_AF_joint_XX=0.00196906;gnomADv4_1_AF_joint_XY=0.00266437;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152016;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27093621 chr22_27093621_G_A G A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.538;CADD_Rawscore=-0.174638;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs1160262|||||||||||||||||||||chr22:g.27093621G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=101289;gnomADv4_1_AC_joint_XX=51340;gnomADv4_1_AC_joint_XY=49949;gnomADv4_1_AF_grpmax_joint=0.993981;gnomADv4_1_AF_joint=0.6696;gnomADv4_1_AF_joint_XX=0.663479;gnomADv4_1_AF_joint_XY=0.67601;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151268;gnomADv4_1_AN_joint_XX=77380;gnomADv4_1_AN_joint_XY=73888;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34414;gnomADv4_1_nhomalt_joint_XX=17293;gnomADv4_1_nhomalt_joint_XY=17121;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27093752 chr22_27093752_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.92;CADD_Rawscore=0.358135;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs62222829|||||||||||||||||||||chr22:g.27093752C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33288;gnomADv4_1_AC_joint_XX=17190;gnomADv4_1_AC_joint_XY=16098;gnomADv4_1_AF_grpmax_joint=0.257633;gnomADv4_1_AF_joint=0.219052;gnomADv4_1_AF_joint_XX=0.221281;gnomADv4_1_AF_joint_XY=0.216721;gnomADv4_1_AN_grpmax_joint=67926;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4012;gnomADv4_1_nhomalt_joint_XX=2121;gnomADv4_1_nhomalt_joint_XY=1891;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27093853 chr22_27093853_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.828;CADD_Rawscore=0.25768;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs1016092|||||||||||||||||||||chr22:g.27093853A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=135104;gnomADv4_1_AC_joint_XX=68734;gnomADv4_1_AC_joint_XY=66370;gnomADv4_1_AF_grpmax_joint=0.999227;gnomADv4_1_AF_joint=0.888153;gnomADv4_1_AF_joint_XX=0.884152;gnomADv4_1_AF_joint_XY=0.892334;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=60194;gnomADv4_1_nhomalt_joint_XX=30462;gnomADv4_1_nhomalt_joint_XY=29732;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27094341 chr22_27094341_C_T C T 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.244;CADD_Rawscore=-0.375318;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs11090471|||||||||||||||||||||chr22:g.27094341C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=57591;gnomADv4_1_AC_joint_XX=29261;gnomADv4_1_AC_joint_XY=28330;gnomADv4_1_AF_grpmax_joint=0.479251;gnomADv4_1_AF_joint=0.379188;gnomADv4_1_AF_joint_XX=0.376813;gnomADv4_1_AF_joint_XY=0.381672;gnomADv4_1_AN_grpmax_joint=15278;gnomADv4_1_AN_joint=151880;gnomADv4_1_AN_joint_XX=77654;gnomADv4_1_AN_joint_XY=74226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=11839;gnomADv4_1_nhomalt_joint_XX=5943;gnomADv4_1_nhomalt_joint_XY=5896;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27094630 chr22_27094630_G_A G A 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=13.42;CADD_Rawscore=1.3768;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7D6X|enhancer||||||||||rs5761958|||||||||||||||||||||chr22:g.27094630G>A|||||||||||||,A|intergenic_variant|MODIFIER|||||||||||||||rs5761958|||||||||||||||||||||chr22:g.27094630G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENSR22_B7D6X,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=101408;gnomADv4_1_AC_joint_XX=51340;gnomADv4_1_AC_joint_XY=50068;gnomADv4_1_AF_grpmax_joint=0.994197;gnomADv4_1_AF_joint=0.667132;gnomADv4_1_AF_joint_XX=0.660729;gnomADv4_1_AF_joint_XY=0.673826;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34450;gnomADv4_1_nhomalt_joint_XX=17277;gnomADv4_1_nhomalt_joint_XY=17173;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27094766 chr22_27094766_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=19.12;CADD_Rawscore=2.52932;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7D6X|enhancer||||||||||rs4820735|||||||||||||||||||||chr22:g.27094766C>T|||||||||||||,T|intergenic_variant|MODIFIER|||||||||||||||rs4820735|||||||||||||||||||||chr22:g.27094766C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENSR22_B7D6X,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=89484;gnomADv4_1_AC_joint_XX=45172;gnomADv4_1_AC_joint_XY=44312;gnomADv4_1_AF_grpmax_joint=0.94692;gnomADv4_1_AF_joint=0.588525;gnomADv4_1_AF_joint_XX=0.581095;gnomADv4_1_AF_joint_XY=0.596297;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=27972;gnomADv4_1_nhomalt_joint_XX=13972;gnomADv4_1_nhomalt_joint_XY=14000;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27094918 chr22_27094918_T_C T C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.027;CADD_Rawscore=-0.01088;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7D6X|enhancer||||||||||rs4822849|||||||||||||||||||||chr22:g.27094918T>C|||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs4822849|||||||||||||||||||||chr22:g.27094918T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENSR22_B7D6X,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=102427;gnomADv4_1_AC_joint_XX=51878;gnomADv4_1_AC_joint_XY=50549;gnomADv4_1_AF_grpmax_joint=0.994013;gnomADv4_1_AF_joint=0.673525;gnomADv4_1_AF_joint_XX=0.66731;gnomADv4_1_AF_joint_XY=0.680025;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=35082;gnomADv4_1_nhomalt_joint_XX=17605;gnomADv4_1_nhomalt_joint_XY=17477;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27095045 chr22_27095045_G_GTGAA G GTGAA 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.603;CADDIndel_Rawscore=-0.146141;CSQ=TGAA|intergenic_variant|MODIFIER|||||||||||||||rs79969451|||||||||||||||||||||chr22:g.27095072_27095075dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGAA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=31043;gnomADv4_1_AC_joint_XX=15994;gnomADv4_1_AC_joint_XY=15049;gnomADv4_1_AF_grpmax_joint=0.255704;gnomADv4_1_AF_joint=0.204475;gnomADv4_1_AF_joint_XX=0.206082;gnomADv4_1_AF_joint_XY=0.202795;gnomADv4_1_AN_grpmax_joint=67852;gnomADv4_1_AN_joint=151818;gnomADv4_1_AN_joint_XX=77610;gnomADv4_1_AN_joint_XY=74208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3595;gnomADv4_1_nhomalt_joint_XX=1923;gnomADv4_1_nhomalt_joint_XY=1672;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27095081 chr22_27095081_G_A G A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=6.276;CADD_Rawscore=0.581432;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5752486|||||||||||||||||||||chr22:g.27095081G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=57784;gnomADv4_1_AC_joint_XX=29357;gnomADv4_1_AC_joint_XY=28427;gnomADv4_1_AF_grpmax_joint=0.480969;gnomADv4_1_AF_joint=0.382164;gnomADv4_1_AF_joint_XX=0.379417;gnomADv4_1_AF_joint_XY=0.385044;gnomADv4_1_AN_grpmax_joint=15238;gnomADv4_1_AN_joint=151202;gnomADv4_1_AN_joint_XX=77374;gnomADv4_1_AN_joint_XY=73828;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=11901;gnomADv4_1_nhomalt_joint_XX=5983;gnomADv4_1_nhomalt_joint_XY=5918;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27095236 chr22_27095236_G_C G C 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.371;CADD_Rawscore=0.30905;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5761959|||||||||||||||||||||chr22:g.27095236G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=96251;gnomADv4_1_AC_joint_XX=48652;gnomADv4_1_AC_joint_XY=47599;gnomADv4_1_AF_grpmax_joint=0.993834;gnomADv4_1_AF_joint=0.632415;gnomADv4_1_AF_joint_XX=0.625202;gnomADv4_1_AF_joint_XY=0.639961;gnomADv4_1_AN_grpmax_joint=5190;gnomADv4_1_AN_joint=152196;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=31617;gnomADv4_1_nhomalt_joint_XX=15792;gnomADv4_1_nhomalt_joint_XY=15825;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27095290 chr22_27095290_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.867;CADD_Rawscore=-0.054539;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5752487|||||||||||||||||||||chr22:g.27095290G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=96263;gnomADv4_1_AC_joint_XX=48660;gnomADv4_1_AC_joint_XY=47603;gnomADv4_1_AF_grpmax_joint=0.993634;gnomADv4_1_AF_joint=0.63271;gnomADv4_1_AF_joint_XX=0.625611;gnomADv4_1_AF_joint_XY=0.640135;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=31620;gnomADv4_1_nhomalt_joint_XX=15794;gnomADv4_1_nhomalt_joint_XY=15826;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27095589 chr22_27095589_G_T G T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.14;CADD_Rawscore=-0.520824;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5761961|||||||||||||||||||||chr22:g.27095589G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=95284;gnomADv4_1_AC_joint_XX=48074;gnomADv4_1_AC_joint_XY=47210;gnomADv4_1_AF_grpmax_joint=0.992097;gnomADv4_1_AF_joint=0.626654;gnomADv4_1_AF_joint_XX=0.618474;gnomADv4_1_AF_joint_XY=0.635209;gnomADv4_1_AN_grpmax_joint=5188;gnomADv4_1_AN_joint=152052;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=31136;gnomADv4_1_nhomalt_joint_XX=15505;gnomADv4_1_nhomalt_joint_XY=15631;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27095737 chr22_27095737_T_G T G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.111;CADD_Rawscore=-0.582829;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4820736|||||||||||||||||||||chr22:g.27095737T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=95088;gnomADv4_1_AC_joint_XX=47968;gnomADv4_1_AC_joint_XY=47120;gnomADv4_1_AF_grpmax_joint=0.991886;gnomADv4_1_AF_joint=0.62534;gnomADv4_1_AF_joint_XX=0.617158;gnomADv4_1_AF_joint_XY=0.633896;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=30991;gnomADv4_1_nhomalt_joint_XX=15436;gnomADv4_1_nhomalt_joint_XY=15555;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27095886 chr22_27095886_T_C T C 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.773;CADD_Rawscore=-0.083781;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4274686|||||||||||||||||||||chr22:g.27095886T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=145605;gnomADv4_1_AC_joint_XX=74172;gnomADv4_1_AC_joint_XY=71433;gnomADv4_1_AF_grpmax_joint=0.999807;gnomADv4_1_AF_joint=0.95638;gnomADv4_1_AF_joint_XX=0.953123;gnomADv4_1_AF_joint_XY=0.959786;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152246;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=69664;gnomADv4_1_nhomalt_joint_XX=35360;gnomADv4_1_nhomalt_joint_XY=34304;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27095887 chr22_27095887_G_A G A 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.017;CADD_Rawscore=-1.11034;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs6005291|||||||||||||||||||||chr22:g.27095887G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=94883;gnomADv4_1_AC_joint_XX=47864;gnomADv4_1_AC_joint_XY=47019;gnomADv4_1_AF_grpmax_joint=0.99168;gnomADv4_1_AF_joint=0.623984;gnomADv4_1_AF_joint_XX=0.615899;gnomADv4_1_AF_joint_XY=0.632435;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152060;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=30837;gnomADv4_1_nhomalt_joint_XX=15366;gnomADv4_1_nhomalt_joint_XY=15471;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27095899 chr22_27095899_G_A G A 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.154;CADD_Rawscore=-0.495548;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs6005292|||||||||||||||||||||chr22:g.27095899G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=128094;gnomADv4_1_AC_joint_XX=64982;gnomADv4_1_AC_joint_XY=63112;gnomADv4_1_AF_grpmax_joint=0.99942;gnomADv4_1_AF_joint=0.841638;gnomADv4_1_AF_joint_XX=0.835502;gnomADv4_1_AF_joint_XY=0.848052;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152196;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=55124;gnomADv4_1_nhomalt_joint_XX=27727;gnomADv4_1_nhomalt_joint_XY=27397;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27095969 chr22_27095969_TG_T TG T 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.812;CADDIndel_Rawscore=-0.071369;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs60603213|||||||||||||||||||||chr22:g.27095973del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=32919;gnomADv4_1_AC_joint_XX=16988;gnomADv4_1_AC_joint_XY=15931;gnomADv4_1_AF_grpmax_joint=0.265127;gnomADv4_1_AF_joint=0.216339;gnomADv4_1_AF_joint_XX=0.218445;gnomADv4_1_AF_joint_XY=0.214138;gnomADv4_1_AN_grpmax_joint=67990;gnomADv4_1_AN_joint=152164;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3959;gnomADv4_1_nhomalt_joint_XX=2108;gnomADv4_1_nhomalt_joint_XY=1851;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27095997 chr22_27095997_A_C A C 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.041;CADD_Rawscore=-0.85255;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4822850|||||||||||||||||||||chr22:g.27095997A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=97088;gnomADv4_1_AC_joint_XX=48959;gnomADv4_1_AC_joint_XY=48129;gnomADv4_1_AF_grpmax_joint=0.992281;gnomADv4_1_AF_joint=0.638141;gnomADv4_1_AF_joint_XX=0.629682;gnomADv4_1_AF_joint_XY=0.646982;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32306;gnomADv4_1_nhomalt_joint_XX=16097;gnomADv4_1_nhomalt_joint_XY=16209;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27096066 chr22_27096066_T_C T C 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.18;CADD_Rawscore=-0.454217;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4822851|||||||||||||||||||||chr22:g.27096066T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=97031;gnomADv4_1_AC_joint_XX=49030;gnomADv4_1_AC_joint_XY=48001;gnomADv4_1_AF_grpmax_joint=0.991873;gnomADv4_1_AF_joint=0.639051;gnomADv4_1_AF_joint_XX=0.631293;gnomADv4_1_AF_joint_XY=0.647175;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=151836;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=74170;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32299;gnomADv4_1_nhomalt_joint_XX=16144;gnomADv4_1_nhomalt_joint_XY=16155;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27096073 chr22_27096073_C_G C G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.028;CADD_Rawscore=-0.010656;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4822852|||||||||||||||||||||chr22:g.27096073C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=97044;gnomADv4_1_AC_joint_XX=49042;gnomADv4_1_AC_joint_XY=48002;gnomADv4_1_AF_grpmax_joint=0.992067;gnomADv4_1_AF_joint=0.639145;gnomADv4_1_AF_joint_XX=0.631496;gnomADv4_1_AF_joint_XY=0.647154;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=151834;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=74174;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32304;gnomADv4_1_nhomalt_joint_XX=16153;gnomADv4_1_nhomalt_joint_XY=16151;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27096462 chr22_27096462_C_T C T 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.307;CADD_Rawscore=0.051996;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs4822853|||||||||||||||||||||chr22:g.27096462C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=97666;gnomADv4_1_AC_joint_XX=49302;gnomADv4_1_AC_joint_XY=48364;gnomADv4_1_AF_grpmax_joint=0.992057;gnomADv4_1_AF_joint=0.642548;gnomADv4_1_AF_joint_XX=0.634452;gnomADv4_1_AF_joint_XY=0.651016;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32567;gnomADv4_1_nhomalt_joint_XX=16245;gnomADv4_1_nhomalt_joint_XY=16322;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27096574 chr22_27096574_T_C T C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.19;CADD_Rawscore=-0.440104;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5761963|||||||||||||||||||||chr22:g.27096574T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=97816;gnomADv4_1_AC_joint_XX=49361;gnomADv4_1_AC_joint_XY=48455;gnomADv4_1_AF_grpmax_joint=0.992085;gnomADv4_1_AF_joint=0.642858;gnomADv4_1_AF_joint_XX=0.634689;gnomADv4_1_AF_joint_XY=0.651399;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32640;gnomADv4_1_nhomalt_joint_XX=16269;gnomADv4_1_nhomalt_joint_XY=16371;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27096623 chr22_27096623_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.1;CADD_Rawscore=-0.611492;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5761964|||||||||||||||||||||chr22:g.27096623A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=129878;gnomADv4_1_AC_joint_XX=65837;gnomADv4_1_AC_joint_XY=64041;gnomADv4_1_AF_grpmax_joint=0.999421;gnomADv4_1_AF_joint=0.854213;gnomADv4_1_AF_joint_XX=0.847585;gnomADv4_1_AF_joint_XY=0.861137;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56766;gnomADv4_1_nhomalt_joint_XX=28515;gnomADv4_1_nhomalt_joint_XY=28251;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27096626 chr22_27096626_G_A G A 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.385;CADD_Rawscore=-0.258622;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5761965|||||||||||||||||||||chr22:g.27096626G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=96904;gnomADv4_1_AC_joint_XX=48840;gnomADv4_1_AC_joint_XY=48064;gnomADv4_1_AF_grpmax_joint=0.992085;gnomADv4_1_AF_joint=0.637551;gnomADv4_1_AF_joint_XX=0.628895;gnomADv4_1_AF_joint_XY=0.646595;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32177;gnomADv4_1_nhomalt_joint_XX=16000;gnomADv4_1_nhomalt_joint_XY=16177;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27096627 chr22_27096627_C_T C T 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.001;CADD_Rawscore=-2.50557;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs62222830|||||||||||||||||||||chr22:g.27096627C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=32925;gnomADv4_1_AC_joint_XX=16984;gnomADv4_1_AC_joint_XY=15941;gnomADv4_1_AF_grpmax_joint=0.265041;gnomADv4_1_AF_joint=0.216595;gnomADv4_1_AF_joint_XX=0.218567;gnomADv4_1_AF_joint_XY=0.214532;gnomADv4_1_AN_grpmax_joint=67948;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3951;gnomADv4_1_nhomalt_joint_XX=2102;gnomADv4_1_nhomalt_joint_XY=1849;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27096638 chr22_27096638_C_T C T 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.124;CADD_Rawscore=-0.55467;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5752488|||||||||||||||||||||chr22:g.27096638C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=96180;gnomADv4_1_AC_joint_XX=48496;gnomADv4_1_AC_joint_XY=47684;gnomADv4_1_AF_grpmax_joint=0.992088;gnomADv4_1_AF_joint=0.632222;gnomADv4_1_AF_joint_XX=0.623711;gnomADv4_1_AF_joint_XY=0.641121;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=31814;gnomADv4_1_nhomalt_joint_XX=15827;gnomADv4_1_nhomalt_joint_XY=15987;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27096887 chr22_27096887_T_TGATA T TGATA 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=2.518;CADDIndel_Rawscore=0.225686;CSQ=GATA|intergenic_variant|MODIFIER|||||||||||||||rs1555881419|||||||||||||||||||||chr22:g.27096921_27096924dup|||||||||||||;TYPE=INDEL;VEP_Allele=GATA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=23099;gnomADv4_1_AC_joint_XX=11933;gnomADv4_1_AC_joint_XY=11166;gnomADv4_1_AF_grpmax_joint=0.236419;gnomADv4_1_AF_joint=0.195027;gnomADv4_1_AF_joint_XX=0.195188;gnomADv4_1_AF_joint_XY=0.194856;gnomADv4_1_AN_grpmax_joint=51874;gnomADv4_1_AN_joint=118440;gnomADv4_1_AN_joint_XX=61136;gnomADv4_1_AN_joint_XY=57304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2009;gnomADv4_1_nhomalt_joint_XX=1061;gnomADv4_1_nhomalt_joint_XY=948;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27096899 chr22_27096899_A_AGAT A AGAT 26 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=26;CADDIndel_PHREDscore=1.158;CADDIndel_Rawscore=0.020286;CSQ=GAT|intergenic_variant|MODIFIER|||||||||||||||rs61627566|||||||||||||||||||||chr22:g.27096900_27096902dup|||||||||||||;TYPE=INDEL;VEP_Allele=GAT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=86747;gnomADv4_1_AC_joint_XX=44069;gnomADv4_1_AC_joint_XY=42678;gnomADv4_1_AF_grpmax_joint=0.911825;gnomADv4_1_AF_joint=0.592413;gnomADv4_1_AF_joint_XX=0.585526;gnomADv4_1_AF_joint_XY=0.599696;gnomADv4_1_AN_grpmax_joint=4854;gnomADv4_1_AN_joint=146430;gnomADv4_1_AN_joint_XX=75264;gnomADv4_1_AN_joint_XY=71166;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=27260;gnomADv4_1_nhomalt_joint_XX=13738;gnomADv4_1_nhomalt_joint_XY=13522;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27096921 chr22_27096921_A_ATAGATAGATAGATAGATAGATAGG;chr22_27096921_A_ATAGATAGATAGATAGG A ATAGATAGATAGATAGATAGATAGG 23 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=23;CADDIndel_PHREDscore=1.161;CADDIndel_Rawscore=0.020946;CSQ=TAGATAGATAGATAGATAGATAGG|intergenic_variant|MODIFIER|||||||||||||||rs1374278396|||||||||||||||||||||chr22:g.27096924_27096925insATAGATAGATAGATAGATAGGTAG|||||||||||||;TYPE=INDEL;VEP_Allele=TAGATAGATAGATAGATAGATAGG;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=2232;gnomADv4_1_AC_joint_XX=1058;gnomADv4_1_AC_joint_XY=1174;gnomADv4_1_AF_grpmax_joint=0.0598448;gnomADv4_1_AF_joint=0.0149432;gnomADv4_1_AF_joint_XX=0.0137918;gnomADv4_1_AF_joint_XY=0.0161588;gnomADv4_1_AN_grpmax_joint=4896;gnomADv4_1_AN_joint=149366;gnomADv4_1_AN_joint_XX=76712;gnomADv4_1_AN_joint_XY=72654;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=26;gnomADv4_1_nhomalt_joint_XX=6;gnomADv4_1_nhomalt_joint_XY=20;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27096921 chr22_27096921_A_ATAGATAGATAGATAGATAGATAGG;chr22_27096921_A_ATAGATAGATAGATAGG A ATAGATAGATAGATAGG 23 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=20;CADDIndel_PHREDscore=1.339;CADDIndel_Rawscore=0.058349;CSQ=TAGATAGATAGATAGG|intergenic_variant|MODIFIER|||||||||||||||rs1374278396|||||||||||||||||||||chr22:g.27096924_27096925insATAGATAGATAGGTAG|||||||||||||;TYPE=INDEL;VEP_Allele=TAGATAGATAGATAGG;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=47422;gnomADv4_1_AC_joint_XX=23956;gnomADv4_1_AC_joint_XY=23466;gnomADv4_1_AF_grpmax_joint=0.444288;gnomADv4_1_AF_joint=0.318962;gnomADv4_1_AF_joint_XX=0.313593;gnomADv4_1_AF_joint_XY=0.324636;gnomADv4_1_AN_grpmax_joint=14898;gnomADv4_1_AN_joint=148676;gnomADv4_1_AN_joint_XX=76392;gnomADv4_1_AN_joint_XY=72284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=8798;gnomADv4_1_nhomalt_joint_XX=4452;gnomADv4_1_nhomalt_joint_XY=4346;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27096982 chr22_27096982_C_CAT C CAT 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.041;CADDIndel_Rawscore=-0.856701;CSQ=AT|intergenic_variant|MODIFIER|||||||||||||||rs78977199|||||||||||||||||||||chr22:g.27096982_27096983insAT|||||||||||||;TYPE=INDEL;VEP_Allele=AT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=32768;gnomADv4_1_AC_joint_XX=16916;gnomADv4_1_AC_joint_XY=15852;gnomADv4_1_AF_grpmax_joint=0.264494;gnomADv4_1_AF_joint=0.215866;gnomADv4_1_AF_joint_XX=0.217922;gnomADv4_1_AF_joint_XY=0.213714;gnomADv4_1_AN_grpmax_joint=67888;gnomADv4_1_AN_joint=151798;gnomADv4_1_AN_joint_XX=77624;gnomADv4_1_AN_joint_XY=74174;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3894;gnomADv4_1_nhomalt_joint_XX=2075;gnomADv4_1_nhomalt_joint_XY=1819;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27097110 chr22_27097110_A_T A T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.103;CADD_Rawscore=0.007642;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs62222831|||||||||||||||||||||chr22:g.27097110A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=30216;gnomADv4_1_AC_joint_XX=15581;gnomADv4_1_AC_joint_XY=14635;gnomADv4_1_AF_grpmax_joint=0.264921;gnomADv4_1_AF_joint=0.199125;gnomADv4_1_AF_joint_XX=0.200838;gnomADv4_1_AF_joint_XY=0.197333;gnomADv4_1_AN_grpmax_joint=67892;gnomADv4_1_AN_joint=151744;gnomADv4_1_AN_joint_XX=77580;gnomADv4_1_AN_joint_XY=74164;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3556;gnomADv4_1_nhomalt_joint_XX=1905;gnomADv4_1_nhomalt_joint_XY=1651;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27097399 chr22_27097399_C_A C A 58 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.22;CADD_Rawscore=-0.401582;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs760531|||||||||||||||||||||chr22:g.27097399C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=96755;gnomADv4_1_AC_joint_XX=48807;gnomADv4_1_AC_joint_XY=47948;gnomADv4_1_AF_grpmax_joint=0.992073;gnomADv4_1_AF_joint=0.636823;gnomADv4_1_AF_joint_XX=0.628535;gnomADv4_1_AF_joint_XY=0.645486;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=151934;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32138;gnomADv4_1_nhomalt_joint_XX=16003;gnomADv4_1_nhomalt_joint_XY=16135;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27097541 chr22_27097541_A_G A G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.975;CADD_Rawscore=-0.024311;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs760532|||||||||||||||||||||chr22:g.27097541A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=97109;gnomADv4_1_AC_joint_XX=48998;gnomADv4_1_AC_joint_XY=48111;gnomADv4_1_AF_grpmax_joint=0.99207;gnomADv4_1_AF_joint=0.638741;gnomADv4_1_AF_joint_XX=0.630443;gnomADv4_1_AF_joint_XY=0.647419;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32313;gnomADv4_1_nhomalt_joint_XX=16097;gnomADv4_1_nhomalt_joint_XY=16216;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27097567 chr22_27097567_C_T C T 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=7.861;CADD_Rawscore=0.753324;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs62222832|||||||||||||||||||||chr22:g.27097567C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=32931;gnomADv4_1_AC_joint_XX=16984;gnomADv4_1_AC_joint_XY=15947;gnomADv4_1_AF_grpmax_joint=0.264936;gnomADv4_1_AF_joint=0.216406;gnomADv4_1_AF_joint_XX=0.218365;gnomADv4_1_AF_joint_XY=0.214359;gnomADv4_1_AN_grpmax_joint=67990;gnomADv4_1_AN_joint=152172;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3956;gnomADv4_1_nhomalt_joint_XX=2103;gnomADv4_1_nhomalt_joint_XY=1853;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27097608 chr22_27097608_C_G C G 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=16.81;CADD_Rawscore=2.01197;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs760533|||||||||||||||||||||chr22:g.27097608C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=97042;gnomADv4_1_AC_joint_XX=48964;gnomADv4_1_AC_joint_XY=48078;gnomADv4_1_AF_grpmax_joint=0.992076;gnomADv4_1_AF_joint=0.638048;gnomADv4_1_AF_joint_XX=0.629957;gnomADv4_1_AF_joint_XY=0.646505;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32256;gnomADv4_1_nhomalt_joint_XX=16072;gnomADv4_1_nhomalt_joint_XY=16184;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27097948 chr22_27097948_G_A G A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.343;CADD_Rawscore=-0.287866;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs760534|4818|1||||||||||||Ensembl||G|G||||chr22:g.27097948G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=87433;gnomADv4_1_AC_joint_XX=44094;gnomADv4_1_AC_joint_XY=43339;gnomADv4_1_AF_grpmax_joint=0.915759;gnomADv4_1_AF_joint=0.576066;gnomADv4_1_AF_joint_XX=0.567827;gnomADv4_1_AF_joint_XY=0.584698;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151776;gnomADv4_1_AN_joint_XX=77654;gnomADv4_1_AN_joint_XY=74122;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=26995;gnomADv4_1_nhomalt_joint_XX=13469;gnomADv4_1_nhomalt_joint_XY=13526;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27097952 chr22_27097952_G_C G C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.086;CADD_Rawscore=-0.652322;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs760535|4814|1||||||||||||Ensembl||G|G||||chr22:g.27097952G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=84707;gnomADv4_1_AC_joint_XX=42741;gnomADv4_1_AC_joint_XY=41966;gnomADv4_1_AF_grpmax_joint=0.894778;gnomADv4_1_AF_joint=0.55812;gnomADv4_1_AF_joint_XX=0.550389;gnomADv4_1_AF_joint_XY=0.566221;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=151772;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74116;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=25571;gnomADv4_1_nhomalt_joint_XX=12746;gnomADv4_1_nhomalt_joint_XY=12825;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27098341 chr22_27098341_G_A G A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.637;CADD_Rawscore=-0.132406;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs4820737|4425|1||||||||||||Ensembl||G|G||||chr22:g.27098341G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=130193;gnomADv4_1_AC_joint_XX=66042;gnomADv4_1_AC_joint_XY=64151;gnomADv4_1_AF_grpmax_joint=0.999421;gnomADv4_1_AF_joint=0.85507;gnomADv4_1_AF_joint_XX=0.848673;gnomADv4_1_AF_joint_XY=0.861758;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152260;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56985;gnomADv4_1_nhomalt_joint_XX=28654;gnomADv4_1_nhomalt_joint_XY=28331;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27098498 chr22_27098498_T_C T C 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=1.964;CADD_Rawscore=0.159098;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs4820738|4268|1||||||||||||Ensembl||T|T||||chr22:g.27098498T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=130425;gnomADv4_1_AC_joint_XX=66162;gnomADv4_1_AC_joint_XY=64263;gnomADv4_1_AF_grpmax_joint=0.99942;gnomADv4_1_AF_joint=0.857078;gnomADv4_1_AF_joint_XX=0.850739;gnomADv4_1_AF_joint_XY=0.863704;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152174;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=57146;gnomADv4_1_nhomalt_joint_XX=28743;gnomADv4_1_nhomalt_joint_XY=28403;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27098549 chr22_27098549_A_G A G 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.052;CADD_Rawscore=-0.786634;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs62222833|4217|1||||||||||||Ensembl||A|A||||chr22:g.27098549A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=32969;gnomADv4_1_AC_joint_XX=16994;gnomADv4_1_AC_joint_XY=15975;gnomADv4_1_AF_grpmax_joint=0.265297;gnomADv4_1_AF_joint=0.216662;gnomADv4_1_AF_joint_XX=0.218505;gnomADv4_1_AF_joint_XY=0.214735;gnomADv4_1_AN_grpmax_joint=67988;gnomADv4_1_AN_joint=152168;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3976;gnomADv4_1_nhomalt_joint_XX=2111;gnomADv4_1_nhomalt_joint_XY=1865;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27098556 chr22_27098556_A_G A G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.005;CADD_Rawscore=-1.50285;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs4820739|4210|1||||||||||||Ensembl||A|A||||chr22:g.27098556A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=130105;gnomADv4_1_AC_joint_XX=66007;gnomADv4_1_AC_joint_XY=64098;gnomADv4_1_AF_grpmax_joint=0.999421;gnomADv4_1_AF_joint=0.855121;gnomADv4_1_AF_joint_XX=0.84879;gnomADv4_1_AF_joint_XY=0.861741;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152148;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56948;gnomADv4_1_nhomalt_joint_XX=28640;gnomADv4_1_nhomalt_joint_XY=28308;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27098733 chr22_27098733_A_T A T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.488;CADD_Rawscore=-0.19917;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs4822854|4033|1||||||||||||Ensembl||A|A||||chr22:g.27098733A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=129122;gnomADv4_1_AC_joint_XX=65476;gnomADv4_1_AC_joint_XY=63646;gnomADv4_1_AF_grpmax_joint=0.999227;gnomADv4_1_AF_joint=0.850337;gnomADv4_1_AF_joint_XX=0.843828;gnomADv4_1_AF_joint_XY=0.857139;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=151848;gnomADv4_1_AN_joint_XX=77594;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56330;gnomADv4_1_nhomalt_joint_XX=28317;gnomADv4_1_nhomalt_joint_XY=28013;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27098738 chr22_27098738_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.517;CADD_Rawscore=0.091083;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs2877350|4028|1||||||||||||Ensembl||A|A||||chr22:g.27098738A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=129121;gnomADv4_1_AC_joint_XX=65469;gnomADv4_1_AC_joint_XY=63652;gnomADv4_1_AF_grpmax_joint=0.99942;gnomADv4_1_AF_joint=0.85023;gnomADv4_1_AF_joint_XX=0.843716;gnomADv4_1_AF_joint_XY=0.857035;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=151866;gnomADv4_1_AN_joint_XX=77596;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56326;gnomADv4_1_nhomalt_joint_XX=28313;gnomADv4_1_nhomalt_joint_XY=28013;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27099036 chr22_27099036_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.928;CADD_Rawscore=-0.03699;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs1160055|3730|1||||||||||||Ensembl||T|T||||chr22:g.27099036T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=130303;gnomADv4_1_AC_joint_XX=66081;gnomADv4_1_AC_joint_XY=64222;gnomADv4_1_AF_grpmax_joint=0.999422;gnomADv4_1_AF_joint=0.855905;gnomADv4_1_AF_joint_XX=0.849327;gnomADv4_1_AF_joint_XY=0.862781;gnomADv4_1_AN_grpmax_joint=5190;gnomADv4_1_AN_joint=152240;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=57064;gnomADv4_1_nhomalt_joint_XX=28694;gnomADv4_1_nhomalt_joint_XY=28370;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27099314 chr22_27099314_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.172;CADD_Rawscore=0.185873;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs5761966|3452|1||||||||||||Ensembl||C|C||||chr22:g.27099314C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=21114;gnomADv4_1_AC_joint_XX=10795;gnomADv4_1_AC_joint_XY=10319;gnomADv4_1_AF_grpmax_joint=0.169655;gnomADv4_1_AF_joint=0.138866;gnomADv4_1_AF_joint_XX=0.138857;gnomADv4_1_AF_joint_XY=0.138875;gnomADv4_1_AN_grpmax_joint=15284;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1452;gnomADv4_1_nhomalt_joint_XX=735;gnomADv4_1_nhomalt_joint_XY=717;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27099388 chr22_27099388_A_ATTT A ATTT 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=1.031;CADDIndel_Rawscore=-0.009784;CSQ=TTT|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs59332328|3377|1||||||||||||Ensembl|||||||chr22:g.27099399_27099401dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTT;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33793;gnomADv4_1_AC_joint_XX=17629;gnomADv4_1_AC_joint_XY=16164;gnomADv4_1_AF_grpmax_joint=0.279258;gnomADv4_1_AF_joint=0.232959;gnomADv4_1_AF_joint_XX=0.235839;gnomADv4_1_AF_joint_XY=0.229896;gnomADv4_1_AN_grpmax_joint=65896;gnomADv4_1_AN_joint=145060;gnomADv4_1_AN_joint_XX=74750;gnomADv4_1_AN_joint_XY=70310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4167;gnomADv4_1_nhomalt_joint_XX=2240;gnomADv4_1_nhomalt_joint_XY=1927;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27099514 chr22_27099514_T_C T C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.584;CADD_Rawscore=0.232702;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs7288125|3252|1||||||||||||Ensembl||T|T||||chr22:g.27099514T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=41894;gnomADv4_1_AC_joint_XX=21624;gnomADv4_1_AC_joint_XY=20270;gnomADv4_1_AF_grpmax_joint=0.296048;gnomADv4_1_AF_joint=0.27632;gnomADv4_1_AF_joint_XX=0.278933;gnomADv4_1_AF_joint_XY=0.273586;gnomADv4_1_AN_grpmax_joint=67820;gnomADv4_1_AN_joint=151614;gnomADv4_1_AN_joint_XX=77524;gnomADv4_1_AN_joint_XY=74090;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5983;gnomADv4_1_nhomalt_joint_XX=3170;gnomADv4_1_nhomalt_joint_XY=2813;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27099521 chr22_27099521_A_T A T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.606;CADD_Rawscore=0.106058;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs7284153|3245|1||||||||||||Ensembl||A|A||||chr22:g.27099521A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=41889;gnomADv4_1_AC_joint_XX=21622;gnomADv4_1_AC_joint_XY=20267;gnomADv4_1_AF_grpmax_joint=0.295888;gnomADv4_1_AF_joint=0.276258;gnomADv4_1_AF_joint_XX=0.278799;gnomADv4_1_AF_joint_XY=0.273597;gnomADv4_1_AN_grpmax_joint=67806;gnomADv4_1_AN_joint=151630;gnomADv4_1_AN_joint_XX=77554;gnomADv4_1_AN_joint_XY=74076;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5977;gnomADv4_1_nhomalt_joint_XX=3166;gnomADv4_1_nhomalt_joint_XY=2811;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27099796 chr22_27099796_A_T A T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.932;CADD_Rawscore=0.154832;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs5761969|2970|1||||||||||||Ensembl||A|A||||chr22:g.27099796A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=41418;gnomADv4_1_AC_joint_XX=21376;gnomADv4_1_AC_joint_XY=20042;gnomADv4_1_AF_grpmax_joint=0.292386;gnomADv4_1_AF_joint=0.272336;gnomADv4_1_AF_joint_XX=0.274925;gnomADv4_1_AF_joint_XY=0.269628;gnomADv4_1_AN_grpmax_joint=41476;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5863;gnomADv4_1_nhomalt_joint_XX=3098;gnomADv4_1_nhomalt_joint_XY=2765;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27099975 chr22_27099975_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.178;CADD_Rawscore=-0.457862;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs146765877|2791|1||||||||||||Ensembl||T|T||||chr22:g.27099975T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=344;gnomADv4_1_AC_joint_XX=152;gnomADv4_1_AC_joint_XY=192;gnomADv4_1_AF_grpmax_joint=0.00322163;gnomADv4_1_AF_joint=0.00226042;gnomADv4_1_AF_joint_XX=0.00195428;gnomADv4_1_AF_joint_XY=0.00258044;gnomADv4_1_AN_grpmax_joint=67978;gnomADv4_1_AN_joint=152184;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27100312 chr22_27100312_A_C A C 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.158;CADD_Rawscore=0.289418;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs5761970|2454|1||||||||||||Ensembl||A|A||||chr22:g.27100312A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38024;gnomADv4_1_AC_joint_XX=19543;gnomADv4_1_AC_joint_XY=18481;gnomADv4_1_AF_grpmax_joint=0.273544;gnomADv4_1_AF_joint=0.250168;gnomADv4_1_AF_joint_XX=0.251603;gnomADv4_1_AF_joint_XY=0.248668;gnomADv4_1_AN_grpmax_joint=67916;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4988;gnomADv4_1_nhomalt_joint_XX=2618;gnomADv4_1_nhomalt_joint_XY=2370;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27100514 chr22_27100514_G_T G T 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.568;CADD_Rawscore=0.09979;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs5761971|2252|1||||||||||||Ensembl||G|G||||chr22:g.27100514G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37014;gnomADv4_1_AC_joint_XX=18995;gnomADv4_1_AC_joint_XY=18019;gnomADv4_1_AF_grpmax_joint=0.273261;gnomADv4_1_AF_joint=0.243295;gnomADv4_1_AF_joint_XX=0.244258;gnomADv4_1_AF_joint_XY=0.242289;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4740;gnomADv4_1_nhomalt_joint_XX=2482;gnomADv4_1_nhomalt_joint_XY=2258;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27100632 chr22_27100632_G_C G C 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=29;CADD_PHREDscore=0.24;CADD_Rawscore=-0.378935;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs9613373|2134|1||||||||||||Ensembl||G|G||||chr22:g.27100632G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000623947;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280025;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=89637;gnomADv4_1_AC_joint_XX=45199;gnomADv4_1_AC_joint_XY=44438;gnomADv4_1_AF_grpmax_joint=0.916505;gnomADv4_1_AF_joint=0.589097;gnomADv4_1_AF_joint_XX=0.581218;gnomADv4_1_AF_joint_XY=0.597333;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=27967;gnomADv4_1_nhomalt_joint_XX=13959;gnomADv4_1_nhomalt_joint_XY=14008;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27100897 chr22_27100897_C_T C T 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=2.502;CADD_Rawscore=0.223925;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs73171652|1869|1||||||||||||Ensembl||C|C||||chr22:g.27100897C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7D7S|enhancer||||||||||rs73171652|||||||||||||||||||||chr22:g.27100897C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623947,ENSR22_B7D7S;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280025,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=5628;gnomADv4_1_AC_joint_XX=2931;gnomADv4_1_AC_joint_XY=2697;gnomADv4_1_AF_grpmax_joint=0.0576895;gnomADv4_1_AF_joint=0.0369675;gnomADv4_1_AF_joint_XX=0.0376696;gnomADv4_1_AF_joint_XY=0.0362334;gnomADv4_1_AN_grpmax_joint=68002;gnomADv4_1_AN_joint=152242;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=136;gnomADv4_1_nhomalt_joint_XX=81;gnomADv4_1_nhomalt_joint_XY=55;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27100931 chr22_27100931_G_T G T 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.561;CADD_Rawscore=0.098552;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs5761972|1835|1||||||||||||Ensembl||G|G||||chr22:g.27100931G>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7D7S|enhancer||||||||||rs5761972|||||||||||||||||||||chr22:g.27100931G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623947,ENSR22_B7D7S;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280025,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=139694;gnomADv4_1_AC_joint_XX=71041;gnomADv4_1_AC_joint_XY=68653;gnomADv4_1_AF_grpmax_joint=0.999417;gnomADv4_1_AF_joint=0.918158;gnomADv4_1_AF_joint_XX=0.913617;gnomADv4_1_AF_joint_XY=0.922904;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64195;gnomADv4_1_nhomalt_joint_XX=32464;gnomADv4_1_nhomalt_joint_XY=31731;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27101055 chr22_27101055_G_T G T 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADD_PHREDscore=7.499;CADD_Rawscore=0.712898;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs62222834|1711|1||||||||||||Ensembl||G|G||||chr22:g.27101055G>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7D7S|enhancer||||||||||rs62222834|||||||||||||||||||||chr22:g.27101055G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623947,ENSR22_B7D7S;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280025,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=32648;gnomADv4_1_AC_joint_XX=16779;gnomADv4_1_AC_joint_XY=15869;gnomADv4_1_AF_grpmax_joint=0.246747;gnomADv4_1_AF_joint=0.214832;gnomADv4_1_AF_joint_XX=0.216002;gnomADv4_1_AF_joint_XY=0.213609;gnomADv4_1_AN_grpmax_joint=67928;gnomADv4_1_AN_joint=151970;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3733;gnomADv4_1_nhomalt_joint_XX=1960;gnomADv4_1_nhomalt_joint_XY=1773;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27101201 chr22_27101201_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=6.546;CADD_Rawscore=0.609542;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs5761973|1565|1||||||||||||Ensembl||A|A||||chr22:g.27101201A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs5761973|4905|-1||||||||||||Ensembl||A|A||||chr22:g.27101201A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7D7S|enhancer||||||||||rs5761973|||||||||||||||||||||chr22:g.27101201A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000623947,ENST00000775158,ENSR22_B7D7S;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280025,ENSG00000300936,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=143825;gnomADv4_1_AC_joint_XX=73320;gnomADv4_1_AC_joint_XY=70505;gnomADv4_1_AF_grpmax_joint=0.999803;gnomADv4_1_AF_joint=0.949942;gnomADv4_1_AF_joint_XX=0.9467;gnomADv4_1_AF_joint_XY=0.953337;gnomADv4_1_AN_grpmax_joint=5066;gnomADv4_1_AN_joint=151404;gnomADv4_1_AN_joint_XX=77448;gnomADv4_1_AN_joint_XY=73956;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=68360;gnomADv4_1_nhomalt_joint_XX=34727;gnomADv4_1_nhomalt_joint_XY=33633;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27101219 chr22_27101219_A_G A G 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.108;CADD_Rawscore=-0.591569;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs12484265|1547|1||||||||||||Ensembl||A|A||||chr22:g.27101219A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs12484265|4887|-1||||||||||||Ensembl||A|A||||chr22:g.27101219A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=55763;gnomADv4_1_AC_joint_XX=28041;gnomADv4_1_AC_joint_XY=27722;gnomADv4_1_AF_grpmax_joint=0.531906;gnomADv4_1_AF_joint=0.370622;gnomADv4_1_AF_joint_XX=0.364036;gnomADv4_1_AF_joint_XY=0.37753;gnomADv4_1_AN_grpmax_joint=5046;gnomADv4_1_AN_joint=150458;gnomADv4_1_AN_joint_XX=77028;gnomADv4_1_AN_joint_XY=73430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10503;gnomADv4_1_nhomalt_joint_XX=5180;gnomADv4_1_nhomalt_joint_XY=5323;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27101220 chr22_27101220_G_A G A 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.033;CADD_Rawscore=-0.009336;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs73880414|1546|1||||||||||||Ensembl||G|G||||chr22:g.27101220G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs73880414|4886|-1||||||||||||Ensembl||G|G||||chr22:g.27101220G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=20166;gnomADv4_1_AC_joint_XX=9837;gnomADv4_1_AC_joint_XY=10329;gnomADv4_1_AF_grpmax_joint=0.38786;gnomADv4_1_AF_joint=0.133153;gnomADv4_1_AF_joint_XX=0.126985;gnomADv4_1_AF_joint_XY=0.139611;gnomADv4_1_AN_grpmax_joint=5074;gnomADv4_1_AN_joint=151450;gnomADv4_1_AN_joint_XX=77466;gnomADv4_1_AN_joint_XY=73984;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1667;gnomADv4_1_nhomalt_joint_XX=763;gnomADv4_1_nhomalt_joint_XY=904;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27101410 chr22_27101410_T_C T C 59 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.22;CADD_Rawscore=-0.401997;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs55887534|1356|1||||||||||||Ensembl||T|T||||chr22:g.27101410T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs55887534|4696|-1||||||||||||Ensembl||T|T||||chr22:g.27101410T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=37762;gnomADv4_1_AC_joint_XX=19417;gnomADv4_1_AC_joint_XY=18345;gnomADv4_1_AF_grpmax_joint=0.266822;gnomADv4_1_AF_joint=0.25108;gnomADv4_1_AF_joint_XX=0.251829;gnomADv4_1_AF_joint_XY=0.250293;gnomADv4_1_AN_grpmax_joint=4726;gnomADv4_1_AN_joint=150398;gnomADv4_1_AN_joint_XX=77104;gnomADv4_1_AN_joint_XY=73294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4911;gnomADv4_1_nhomalt_joint_XX=2553;gnomADv4_1_nhomalt_joint_XY=2358;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27101491 chr22_27101491_CTCCA_C CTCCA C 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=1.085;CADDIndel_Rawscore=0.003302;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs56291003|1271|1||||||||||||Ensembl||TCCA|TCCA||||chr22:g.27101532_27101535del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs56291003|4611|-1||||||||||||Ensembl||TCCA|TCCA||||chr22:g.27101532_27101535del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=85057;gnomADv4_1_AC_joint_XX=43379;gnomADv4_1_AC_joint_XY=41678;gnomADv4_1_AF_grpmax_joint=0.611625;gnomADv4_1_AF_joint=0.571389;gnomADv4_1_AF_joint_XX=0.567773;gnomADv4_1_AF_joint_XY=0.575202;gnomADv4_1_AN_grpmax_joint=4972;gnomADv4_1_AN_joint=148860;gnomADv4_1_AN_joint_XX=76402;gnomADv4_1_AN_joint_XY=72458;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24507;gnomADv4_1_nhomalt_joint_XX=12440;gnomADv4_1_nhomalt_joint_XY=12067;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27101742 chr22_27101742_G_A G A 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=5.346;CADD_Rawscore=0.488631;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs5761974|1024|1||||||||||||Ensembl||G|G||||chr22:g.27101742G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs5761974|4364|-1||||||||||||Ensembl||G|G||||chr22:g.27101742G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=37451;gnomADv4_1_AC_joint_XX=19125;gnomADv4_1_AC_joint_XY=18326;gnomADv4_1_AF_grpmax_joint=0.271985;gnomADv4_1_AF_joint=0.246508;gnomADv4_1_AF_joint_XX=0.246114;gnomADv4_1_AF_joint_XY=0.246921;gnomADv4_1_AN_grpmax_joint=4776;gnomADv4_1_AN_joint=151926;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4767;gnomADv4_1_nhomalt_joint_XX=2464;gnomADv4_1_nhomalt_joint_XY=2303;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27102274 chr22_27102274_C_T C T 41 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.462;CADD_Rawscore=0.219526;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs5761975|492|1||||||||||||Ensembl||C|C||||chr22:g.27102274C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs5761975|3832|-1||||||||||||Ensembl||C|C||||chr22:g.27102274C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=35715;gnomADv4_1_AC_joint_XX=18474;gnomADv4_1_AC_joint_XY=17241;gnomADv4_1_AF_grpmax_joint=0.353131;gnomADv4_1_AF_joint=0.288685;gnomADv4_1_AF_joint_XX=0.280743;gnomADv4_1_AF_joint_XY=0.29771;gnomADv4_1_AN_grpmax_joint=10540;gnomADv4_1_AN_joint=123716;gnomADv4_1_AN_joint_XX=65804;gnomADv4_1_AN_joint_XY=57912;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4817;gnomADv4_1_nhomalt_joint_XX=2489;gnomADv4_1_nhomalt_joint_XY=2328;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27102309 chr22_27102309_CA_C CA C 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=14;CADDIndel_PHREDscore=0.432;CADDIndel_Rawscore=-0.229934;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs71192981|456|1||||||||||||Ensembl||A|A||||chr22:g.27102336del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs71192981|3796|-1||||||||||||Ensembl||A|A||||chr22:g.27102336del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=4416;gnomADv4_1_AC_joint_XX=2594;gnomADv4_1_AC_joint_XY=1822;gnomADv4_1_AF_grpmax_joint=0.264965;gnomADv4_1_AF_joint=0.199928;gnomADv4_1_AF_joint_XX=0.200805;gnomADv4_1_AF_joint_XY=0.198691;gnomADv4_1_AN_grpmax_joint=1136;gnomADv4_1_AN_joint=22088;gnomADv4_1_AN_joint_XX=12918;gnomADv4_1_AN_joint_XY=9170;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=123;gnomADv4_1_nhomalt_joint_XX=62;gnomADv4_1_nhomalt_joint_XY=61;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27102464 chr22_27102464_G_A G A 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=4.994;CADD_Rawscore=0.455297;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs5761976|302|1||||||||||||Ensembl||G|G||||chr22:g.27102464G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs5761976|3642|-1||||||||||||Ensembl||G|G||||chr22:g.27102464G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=38641;gnomADv4_1_AC_joint_XX=19649;gnomADv4_1_AC_joint_XY=18992;gnomADv4_1_AF_grpmax_joint=0.275136;gnomADv4_1_AF_joint=0.254555;gnomADv4_1_AF_joint_XX=0.253196;gnomADv4_1_AF_joint_XY=0.255978;gnomADv4_1_AN_grpmax_joint=4794;gnomADv4_1_AN_joint=151798;gnomADv4_1_AN_joint_XX=77604;gnomADv4_1_AN_joint_XY=74194;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5085;gnomADv4_1_nhomalt_joint_XX=2595;gnomADv4_1_nhomalt_joint_XY=2490;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27104461 chr22_27104461_C_T C T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.354;CADD_Rawscore=-0.279638;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.1696C>T||1696|||||rs5752491||1||||||||||||Ensembl||C|C||||chr22:g.27104461C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs5752491|1645|-1||||||||||||Ensembl||C|C||||chr22:g.27104461C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=136237;gnomADv4_1_AC_joint_XX=69363;gnomADv4_1_AC_joint_XY=66874;gnomADv4_1_AF_grpmax_joint=0.959184;gnomADv4_1_AF_joint=0.895883;gnomADv4_1_AF_joint_XX=0.892634;gnomADv4_1_AF_joint_XY=0.899279;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=61161;gnomADv4_1_nhomalt_joint_XX=31004;gnomADv4_1_nhomalt_joint_XY=30157;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27104549 chr22_27104549_G_A G A 35 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.581;CADD_Rawscore=-0.155497;CSQ=A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.1784G>A||1784|||||rs6005294||1||||||||||||Ensembl||G|G||||chr22:g.27104549G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs6005294|1557|-1||||||||||||Ensembl||G|G||||chr22:g.27104549G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=39161;gnomADv4_1_AC_joint_XX=19722;gnomADv4_1_AC_joint_XY=19439;gnomADv4_1_AF_grpmax_joint=0.396667;gnomADv4_1_AF_joint=0.260171;gnomADv4_1_AF_joint_XX=0.255546;gnomADv4_1_AF_joint_XY=0.265039;gnomADv4_1_AN_grpmax_joint=5100;gnomADv4_1_AN_joint=150520;gnomADv4_1_AN_joint_XX=77176;gnomADv4_1_AN_joint_XY=73344;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5288;gnomADv4_1_nhomalt_joint_XX=2621;gnomADv4_1_nhomalt_joint_XY=2667;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27104690 chr22_27104690_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.048;CADD_Rawscore=-0.005721;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.1925T>C||1925|||||rs5761978||1||||||||||||Ensembl||T|T||||chr22:g.27104690T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs5761978|1416|-1||||||||||||Ensembl||T|T||||chr22:g.27104690T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=145159;gnomADv4_1_AC_joint_XX=73915;gnomADv4_1_AC_joint_XY=71244;gnomADv4_1_AF_grpmax_joint=0.999807;gnomADv4_1_AF_joint=0.953112;gnomADv4_1_AF_joint_XX=0.949698;gnomADv4_1_AF_joint_XY=0.956681;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152300;gnomADv4_1_AN_joint_XX=77830;gnomADv4_1_AN_joint_XY=74470;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=69199;gnomADv4_1_nhomalt_joint_XX=35100;gnomADv4_1_nhomalt_joint_XY=34099;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27104734 chr22_27104734_C_T C T 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.008;CADD_Rawscore=-0.015809;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.1969C>T||1969|||||rs5761979||1||||||||||||Ensembl||C|C||||chr22:g.27104734C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs5761979|1372|-1||||||||||||Ensembl||C|C||||chr22:g.27104734C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=96144;gnomADv4_1_AC_joint_XX=49244;gnomADv4_1_AC_joint_XY=46900;gnomADv4_1_AF_grpmax_joint=0.68146;gnomADv4_1_AF_joint=0.632693;gnomADv4_1_AF_joint_XX=0.633836;gnomADv4_1_AF_joint_XY=0.631497;gnomADv4_1_AN_grpmax_joint=67938;gnomADv4_1_AN_joint=151960;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=30714;gnomADv4_1_nhomalt_joint_XX=15714;gnomADv4_1_nhomalt_joint_XY=15000;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27104757 chr22_27104757_T_C T C 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=2.172;CADD_Rawscore=0.185899;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.1992T>C||1992|||||rs5761980||1||||||||||||Ensembl||T|T||||chr22:g.27104757T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs5761980|1349|-1||||||||||||Ensembl||T|T||||chr22:g.27104757T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=96818;gnomADv4_1_AC_joint_XX=49548;gnomADv4_1_AC_joint_XY=47270;gnomADv4_1_AF_grpmax_joint=0.702614;gnomADv4_1_AF_joint=0.636835;gnomADv4_1_AF_joint_XX=0.637618;gnomADv4_1_AF_joint_XY=0.636016;gnomADv4_1_AN_grpmax_joint=67942;gnomADv4_1_AN_joint=152030;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=31358;gnomADv4_1_nhomalt_joint_XX=16026;gnomADv4_1_nhomalt_joint_XY=15332;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27105109 chr22_27105109_T_C T C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.399;CADD_Rawscore=0.069861;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.2344T>C||2344|||||rs5997172||1||||||||||||Ensembl||T|T||||chr22:g.27105109T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs5997172|997|-1||||||||||||Ensembl||T|T||||chr22:g.27105109T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=39954;gnomADv4_1_AC_joint_XX=20154;gnomADv4_1_AC_joint_XY=19800;gnomADv4_1_AF_grpmax_joint=0.391975;gnomADv4_1_AF_joint=0.262424;gnomADv4_1_AF_joint_XX=0.259016;gnomADv4_1_AF_joint_XY=0.265986;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152250;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5428;gnomADv4_1_nhomalt_joint_XX=2691;gnomADv4_1_nhomalt_joint_XY=2737;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27105121 chr22_27105121_C_T C T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.859;CADD_Rawscore=-0.05701;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.2356C>T||2356|||||rs9613374||1||||||||||||Ensembl||C|C||||chr22:g.27105121C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs9613374|985|-1||||||||||||Ensembl||C|C||||chr22:g.27105121C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=88047;gnomADv4_1_AC_joint_XX=44887;gnomADv4_1_AC_joint_XY=43160;gnomADv4_1_AF_grpmax_joint=0.680706;gnomADv4_1_AF_joint=0.578488;gnomADv4_1_AF_joint_XX=0.577072;gnomADv4_1_AF_joint_XY=0.579967;gnomADv4_1_AN_grpmax_joint=68022;gnomADv4_1_AN_joint=152202;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26880;gnomADv4_1_nhomalt_joint_XX=13685;gnomADv4_1_nhomalt_joint_XY=13195;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27105348 chr22_27105348_A_AGGATGGAT;chr22_27105348_AGGATGGAT_A A AGGATGGAT 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=0.834;CADDIndel_Rawscore=-0.064382;CSQ=GGATGGAT|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.2612_2619dup||2583-2584|||||rs56054306||1||||||||||||Ensembl||||||36|chr22:g.27105377_27105384dup|||||||||||||,GGATGGAT|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs56054306|757|-1||||||||||||Ensembl|||||||chr22:g.27105377_27105384dup|||||||||||||;TYPE=INDEL;VEP_Allele=GGATGGAT,GGATGGAT;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=65635;gnomADv4_1_AC_joint_XX=33836;gnomADv4_1_AC_joint_XY=31799;gnomADv4_1_AF_grpmax_joint=0.541582;gnomADv4_1_AF_joint=0.45839;gnomADv4_1_AF_joint_XX=0.458184;gnomADv4_1_AF_joint_XY=0.458609;gnomADv4_1_AN_grpmax_joint=65558;gnomADv4_1_AN_joint=143186;gnomADv4_1_AN_joint_XX=73848;gnomADv4_1_AN_joint_XY=69338;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16262;gnomADv4_1_nhomalt_joint_XX=8343;gnomADv4_1_nhomalt_joint_XY=7919;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27105348 chr22_27105348_A_AGGATGGAT;chr22_27105348_AGGATGGAT_A AGGATGGAT A 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=1.926;CADDIndel_Rawscore=0.153882;CSQ=-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.2612_2619del||2584-2591|||||rs56054306||1||||||||||||Ensembl||GGATGGAT|GGATGGAT|||28|chr22:g.27105377_27105384del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs56054306|750|-1||||||||||||Ensembl||GGATGGAT|GGATGGAT||||chr22:g.27105377_27105384del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=43316;gnomADv4_1_AC_joint_XX=22079;gnomADv4_1_AC_joint_XY=21237;gnomADv4_1_AF_grpmax_joint=0.396019;gnomADv4_1_AF_joint=0.301854;gnomADv4_1_AF_joint_XX=0.298276;gnomADv4_1_AF_joint_XY=0.305665;gnomADv4_1_AN_grpmax_joint=4924;gnomADv4_1_AN_joint=143500;gnomADv4_1_AN_joint_XX=74022;gnomADv4_1_AN_joint_XY=69478;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6728;gnomADv4_1_nhomalt_joint_XX=3391;gnomADv4_1_nhomalt_joint_XY=3337;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27105392 chr22_27105392_TG_T TG T 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.119;CADDIndel_Rawscore=-0.565622;CSQ=-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.2629del||2628|||||rs68124530||1||||||||||||Ensembl||G|G|||1|chr22:g.27105394del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs68124530|713|-1||||||||||||Ensembl||G|G||||chr22:g.27105394del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=47542;gnomADv4_1_AC_joint_XX=24210;gnomADv4_1_AC_joint_XY=23332;gnomADv4_1_AF_grpmax_joint=0.456072;gnomADv4_1_AF_joint=0.320498;gnomADv4_1_AF_joint_XX=0.318017;gnomADv4_1_AF_joint_XY=0.323113;gnomADv4_1_AN_grpmax_joint=39906;gnomADv4_1_AN_joint=148338;gnomADv4_1_AN_joint_XX=76128;gnomADv4_1_AN_joint_XY=72210;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8282;gnomADv4_1_nhomalt_joint_XX=4187;gnomADv4_1_nhomalt_joint_XY=4095;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27105395 chr22_27105395_ATGG_A ATGG A 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.815;CADDIndel_Rawscore=-0.070224;CSQ=-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.2631_2633del||2631-2633|||||rs66814258||1||||||||||||Ensembl||TGG|TGG||||chr22:g.27105396_27105398del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs66814258|708|-1||||||||||||Ensembl||TGG|TGG||||chr22:g.27105396_27105398del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=47541;gnomADv4_1_AC_joint_XX=24193;gnomADv4_1_AC_joint_XY=23348;gnomADv4_1_AF_grpmax_joint=0.443818;gnomADv4_1_AF_joint=0.315317;gnomADv4_1_AF_joint_XX=0.313397;gnomADv4_1_AF_joint_XY=0.317332;gnomADv4_1_AN_grpmax_joint=40992;gnomADv4_1_AN_joint=150772;gnomADv4_1_AN_joint_XX=77196;gnomADv4_1_AN_joint_XY=73576;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8256;gnomADv4_1_nhomalt_joint_XX=4168;gnomADv4_1_nhomalt_joint_XY=4088;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27105483 chr22_27105483_T_TGATGGATG;chr22_27105483_T_TGATG T TGATGGATG 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=33;CADDIndel_PHREDscore=1.177;CADDIndel_Rawscore=0.024479;CSQ=GATGGATG|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.2739_2746dup||2718-2719|||||rs78340657||1||||||||||||Ensembl||||||28|chr22:g.27105504_27105511dup|||||||||||||,GATGGATG|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs78340657|622|-1||||||||||||Ensembl|||||||chr22:g.27105504_27105511dup|||||||||||||;TYPE=INDEL;VEP_Allele=GATGGATG,GATGGATG;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=35329;gnomADv4_1_AC_joint_XX=17674;gnomADv4_1_AC_joint_XY=17655;gnomADv4_1_AF_grpmax_joint=0.414679;gnomADv4_1_AF_joint=0.237583;gnomADv4_1_AF_joint_XX=0.231754;gnomADv4_1_AF_joint_XY=0.243719;gnomADv4_1_AN_grpmax_joint=4946;gnomADv4_1_AN_joint=148702;gnomADv4_1_AN_joint_XX=76262;gnomADv4_1_AN_joint_XY=72440;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4573;gnomADv4_1_nhomalt_joint_XX=2214;gnomADv4_1_nhomalt_joint_XY=2359;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27105483 chr22_27105483_T_TGATGGATG;chr22_27105483_T_TGATG T TGATG 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=32;CADDIndel_PHREDscore=1.267;CADDIndel_Rawscore=0.043861;CSQ=GATG|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.2743_2746dup||2718-2719|||||rs78340657||1||||||||||||Ensembl||||||28|chr22:g.27105508_27105511dup|||||||||||||,GATG|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs78340657|622|-1||||||||||||Ensembl|||||||chr22:g.27105508_27105511dup|||||||||||||;TYPE=INDEL;VEP_Allele=GATG,GATG;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=105125;gnomADv4_1_AC_joint_XX=54134;gnomADv4_1_AC_joint_XY=50991;gnomADv4_1_AF_grpmax_joint=0.776494;gnomADv4_1_AF_joint=0.707284;gnomADv4_1_AF_joint_XX=0.710066;gnomADv4_1_AF_joint_XY=0.704354;gnomADv4_1_AN_grpmax_joint=40236;gnomADv4_1_AN_joint=148632;gnomADv4_1_AN_joint_XX=76238;gnomADv4_1_AN_joint_XY=72394;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=37450;gnomADv4_1_nhomalt_joint_XX=19318;gnomADv4_1_nhomalt_joint_XY=18132;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27105569 chr22_27105569_C_T C T 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.238;CADD_Rawscore=-0.381767;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.2804C>T||2804|||||rs11090472||1||||||||||||Ensembl||C|C||||chr22:g.27105569C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs11090472|537|-1||||||||||||Ensembl||C|C||||chr22:g.27105569C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7D8K|enhancer||||||||||rs11090472|||||||||||||||||||||chr22:g.27105569C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000623947,ENST00000775158,ENSR22_B7D8K;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280025,ENSG00000300936,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=39466;gnomADv4_1_AC_joint_XX=19920;gnomADv4_1_AC_joint_XY=19546;gnomADv4_1_AF_grpmax_joint=0.391929;gnomADv4_1_AF_joint=0.259559;gnomADv4_1_AF_joint_XX=0.256278;gnomADv4_1_AF_joint_XY=0.262991;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5278;gnomADv4_1_nhomalt_joint_XX=2622;gnomADv4_1_nhomalt_joint_XY=2656;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27106605 chr22_27106605_C_T C T 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.727;CADD_Rawscore=0.125111;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.3840C>T||3840|||||rs4822857||1||||||||||||Ensembl||C|C||||chr22:g.27106605C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-244G>A|||||||rs4822857||-1||||||||||||Ensembl||C|C||||chr22:g.27106605C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=137490;gnomADv4_1_AC_joint_XX=69979;gnomADv4_1_AC_joint_XY=67511;gnomADv4_1_AF_grpmax_joint=0.962585;gnomADv4_1_AF_joint=0.903529;gnomADv4_1_AF_joint_XX=0.900051;gnomADv4_1_AF_joint_XY=0.907162;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=62192;gnomADv4_1_nhomalt_joint_XX=31513;gnomADv4_1_nhomalt_joint_XY=30679;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27106729 chr22_27106729_C_T C T 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.486;CADD_Rawscore=0.085726;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.3964C>T||3964|||||rs11704194||1||||||||||||Ensembl||C|C||||chr22:g.27106729C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-368G>A|||||||rs11704194||-1||||||||||||Ensembl||C|C||||chr22:g.27106729C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=90481;gnomADv4_1_AC_joint_XX=46192;gnomADv4_1_AC_joint_XY=44289;gnomADv4_1_AF_grpmax_joint=0.681925;gnomADv4_1_AF_joint=0.594957;gnomADv4_1_AF_joint_XX=0.594079;gnomADv4_1_AF_joint_XY=0.595875;gnomADv4_1_AN_grpmax_joint=67984;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=27911;gnomADv4_1_nhomalt_joint_XX=14211;gnomADv4_1_nhomalt_joint_XY=13700;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27106821 chr22_27106821_C_A C A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.206;CADD_Rawscore=-0.419173;CSQ=A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.4056C>A||4056|||||rs8142849||1||||||||||||Ensembl||C|C||||chr22:g.27106821C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-460G>T|||||||rs8142849||-1||||||||||||Ensembl||C|C||||chr22:g.27106821C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=137572;gnomADv4_1_AC_joint_XX=70035;gnomADv4_1_AC_joint_XY=67537;gnomADv4_1_AF_grpmax_joint=0.962585;gnomADv4_1_AF_joint=0.903427;gnomADv4_1_AF_joint_XX=0.899985;gnomADv4_1_AF_joint_XY=0.907024;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152278;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=62225;gnomADv4_1_nhomalt_joint_XX=31537;gnomADv4_1_nhomalt_joint_XY=30688;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27106936 chr22_27106936_C_G C G 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.577;CADD_Rawscore=0.101185;CSQ=G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA|1/1||ENST00000623947.1:n.4171C>G||4171|||||rs4822858||1||||||||||||Ensembl||C|C||||chr22:g.27106936C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-575G>C|||||||rs4822858||-1||||||||||||Ensembl||C|C||||chr22:g.27106936C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=41032;gnomADv4_1_AC_joint_XX=20676;gnomADv4_1_AC_joint_XY=20356;gnomADv4_1_AF_grpmax_joint=0.392373;gnomADv4_1_AF_joint=0.26966;gnomADv4_1_AF_joint_XX=0.265888;gnomADv4_1_AF_joint_XY=0.273602;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5732;gnomADv4_1_nhomalt_joint_XX=2826;gnomADv4_1_nhomalt_joint_XY=2906;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27107409 chr22_27107409_G_A G A 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.659;CADD_Rawscore=0.114562;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs713911|390|1||||||||||||Ensembl||G|G||||chr22:g.27107409G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-1048C>T|||||||rs713911||-1||||||||||||Ensembl||G|G||||chr22:g.27107409G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=96075;gnomADv4_1_AC_joint_XX=49106;gnomADv4_1_AC_joint_XY=46969;gnomADv4_1_AF_grpmax_joint=0.70068;gnomADv4_1_AF_joint=0.632156;gnomADv4_1_AF_joint_XX=0.631881;gnomADv4_1_AF_joint_XY=0.632443;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151980;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=30735;gnomADv4_1_nhomalt_joint_XX=15685;gnomADv4_1_nhomalt_joint_XY=15050;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27107620 chr22_27107620_A_C A C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.657;CADD_Rawscore=-0.124974;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs4820740|601|1||||||||||||Ensembl||A|A||||chr22:g.27107620A>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-1259T>G|||||||rs4820740||-1||||||||||||Ensembl||A|A||||chr22:g.27107620A>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=137574;gnomADv4_1_AC_joint_XX=70040;gnomADv4_1_AC_joint_XY=67534;gnomADv4_1_AF_grpmax_joint=0.962585;gnomADv4_1_AF_joint=0.90382;gnomADv4_1_AF_joint_XX=0.90035;gnomADv4_1_AF_joint_XY=0.907447;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=62253;gnomADv4_1_nhomalt_joint_XX=31555;gnomADv4_1_nhomalt_joint_XY=30698;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27107875 chr22_27107875_C_T C T 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.739;CADD_Rawscore=0.342051;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs4820741|856|1||||||||||||Ensembl||C|C||||chr22:g.27107875C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-1514G>A|||||||rs4820741||-1||||||||||||Ensembl||C|C||||chr22:g.27107875C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4NLZ|enhancer||||||||||rs4820741|||||||||||||||||||||chr22:g.27107875C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000623947,ENST00000775158,ENSR22_C4NLZ;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280025,ENSG00000300936,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=25089;gnomADv4_1_AC_joint_XX=12797;gnomADv4_1_AC_joint_XY=12292;gnomADv4_1_AF_grpmax_joint=0.225078;gnomADv4_1_AF_joint=0.164912;gnomADv4_1_AF_joint_XX=0.164579;gnomADv4_1_AF_joint_XY=0.165259;gnomADv4_1_AN_grpmax_joint=15288;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=2456;gnomADv4_1_nhomalt_joint_XX=1267;gnomADv4_1_nhomalt_joint_XY=1189;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27108101 chr22_27108101_A_G A G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=2.336;CADD_Rawscore=0.205305;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs11705220|1082|1||||||||||||Ensembl||A|A||||chr22:g.27108101A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-1740T>C|||||||rs11705220||-1||||||||||||Ensembl||A|A||||chr22:g.27108101A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4NLZ|enhancer||||||||||rs11705220|||||||||||||||||||||chr22:g.27108101A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000623947,ENST00000775158,ENSR22_C4NLZ;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280025,ENSG00000300936,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=90515;gnomADv4_1_AC_joint_XX=46231;gnomADv4_1_AC_joint_XY=44284;gnomADv4_1_AF_grpmax_joint=0.68246;gnomADv4_1_AF_joint=0.596097;gnomADv4_1_AF_joint_XX=0.595331;gnomADv4_1_AF_joint_XY=0.5969;gnomADv4_1_AN_grpmax_joint=67938;gnomADv4_1_AN_joint=151846;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74190;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=27954;gnomADv4_1_nhomalt_joint_XX=14233;gnomADv4_1_nhomalt_joint_XY=13721;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27108120 chr22_27108120_A_C A C 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=4.442;CADD_Rawscore=0.404725;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs13054677|1101|1||||||||||||Ensembl||A|A||||chr22:g.27108120A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-1759T>G|||||||rs13054677||-1||||||||||||Ensembl||A|A||||chr22:g.27108120A>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4NLZ|enhancer||||||||||rs13054677|||||||||||||||||||||chr22:g.27108120A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000623947,ENST00000775158,ENSR22_C4NLZ;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280025,ENSG00000300936,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=92903;gnomADv4_1_AC_joint_XX=47485;gnomADv4_1_AC_joint_XY=45418;gnomADv4_1_AF_grpmax_joint=0.682868;gnomADv4_1_AF_joint=0.612889;gnomADv4_1_AF_joint_XX=0.612457;gnomADv4_1_AF_joint_XY=0.613342;gnomADv4_1_AN_grpmax_joint=67896;gnomADv4_1_AN_joint=151582;gnomADv4_1_AN_joint_XX=77532;gnomADv4_1_AN_joint_XY=74050;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=29078;gnomADv4_1_nhomalt_joint_XX=14817;gnomADv4_1_nhomalt_joint_XY=14261;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27108199 chr22_27108199_G_C G C 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=6.608;CADD_Rawscore=0.616094;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs6005296|1180|1||||||||||||Ensembl||G|G||||chr22:g.27108199G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-1838C>G|||||||rs6005296||-1||||||||||||Ensembl||G|G||||chr22:g.27108199G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4NLZ|enhancer||||||||||rs6005296|||||||||||||||||||||chr22:g.27108199G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000623947,ENST00000775158,ENSR22_C4NLZ;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280025,ENSG00000300936,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=104432;gnomADv4_1_AC_joint_XX=53693;gnomADv4_1_AC_joint_XY=50739;gnomADv4_1_AF_grpmax_joint=0.873593;gnomADv4_1_AF_joint=0.710441;gnomADv4_1_AF_joint_XX=0.708388;gnomADv4_1_AF_joint_XY=0.712626;gnomADv4_1_AN_grpmax_joint=4976;gnomADv4_1_AN_joint=146996;gnomADv4_1_AN_joint_XX=75796;gnomADv4_1_AN_joint_XY=71200;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=37272;gnomADv4_1_nhomalt_joint_XX=19071;gnomADv4_1_nhomalt_joint_XY=18201;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27108234 chr22_27108234_C_CGG C CGG 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=0.749;CADDIndel_Rawscore=-0.091706;CSQ=GG|downstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs60100558|1215|1||||||||||||Ensembl|||||||chr22:g.27108243_27108244dup|||||||||||||,GG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-1875_268-1874dup|||||||rs60100558||-1||||||||||||Ensembl|||||||chr22:g.27108243_27108244dup|||||||||||||,GG|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4NLZ|enhancer||||||||||rs60100558|||||||||||||||||||||chr22:g.27108243_27108244dup|||||||||||||;TYPE=INDEL;VEP_Allele=GG,GG,GG;VEP_Feature=ENST00000623947,ENST00000775158,ENSR22_C4NLZ;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280025,ENSG00000300936,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=59772;gnomADv4_1_AC_joint_XX=32211;gnomADv4_1_AC_joint_XY=27561;gnomADv4_1_AF_grpmax_joint=0.564101;gnomADv4_1_AF_joint=0.495679;gnomADv4_1_AF_joint_XX=0.505651;gnomADv4_1_AF_joint_XY=0.484512;gnomADv4_1_AN_grpmax_joint=57238;gnomADv4_1_AN_joint=120586;gnomADv4_1_AN_joint_XX=63702;gnomADv4_1_AN_joint_XY=56884;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15345;gnomADv4_1_nhomalt_joint_XX=8366;gnomADv4_1_nhomalt_joint_XY=6979;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27108868 chr22_27108868_AC_A AC A 19 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=19;CADDIndel_PHREDscore=1.17;CADDIndel_Rawscore=0.023035;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs11325865|1850|1||||||||||||Ensembl||C|C||||chr22:g.27108878del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-2508del|||||||rs11325865||-1||||||||||||Ensembl||C|C||||chr22:g.27108878del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4NLZ|enhancer||||||||||rs11325865|||||||||||||||||||||chr22:g.27108878del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000623947,ENST00000775158,ENSR22_C4NLZ;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280025,ENSG00000300936,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=75831;gnomADv4_1_AC_joint_XX=39103;gnomADv4_1_AC_joint_XY=36728;gnomADv4_1_AF_grpmax_joint=0.815901;gnomADv4_1_AF_joint=0.633054;gnomADv4_1_AF_joint_XX=0.621709;gnomADv4_1_AF_joint_XY=0.645597;gnomADv4_1_AN_grpmax_joint=3786;gnomADv4_1_AN_joint=119786;gnomADv4_1_AN_joint_XX=62896;gnomADv4_1_AN_joint_XY=56890;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19114;gnomADv4_1_nhomalt_joint_XX=9346;gnomADv4_1_nhomalt_joint_XY=9768;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27108980 chr22_27108980_T_C T C 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.021;CADD_Rawscore=-1.04784;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs7289733|1961|1||||||||||||Ensembl||T|T||||chr22:g.27108980T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-2619A>G|||||||rs7289733||-1||||||||||||Ensembl||T|T||||chr22:g.27108980T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4NLZ|enhancer||||||||||rs7289733|||||||||||||||||||||chr22:g.27108980T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000623947,ENST00000775158,ENSR22_C4NLZ;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280025,ENSG00000300936,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=92610;gnomADv4_1_AC_joint_XX=47307;gnomADv4_1_AC_joint_XY=45303;gnomADv4_1_AF_grpmax_joint=0.683774;gnomADv4_1_AF_joint=0.613482;gnomADv4_1_AF_joint_XX=0.61269;gnomADv4_1_AF_joint_XY=0.614311;gnomADv4_1_AN_grpmax_joint=67806;gnomADv4_1_AN_joint=150958;gnomADv4_1_AN_joint_XX=77212;gnomADv4_1_AN_joint_XY=73746;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=28964;gnomADv4_1_nhomalt_joint_XX=14746;gnomADv4_1_nhomalt_joint_XY=14218;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27110574 chr22_27110574_T_C T C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.482;CADD_Rawscore=-0.202392;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs2342397|3555|1||||||||||||Ensembl||T|T||||chr22:g.27110574T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-4213A>G|||||||rs2342397||-1||||||||||||Ensembl||T|T||||chr22:g.27110574T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=141260;gnomADv4_1_AC_joint_XX=72008;gnomADv4_1_AC_joint_XY=69252;gnomADv4_1_AF_grpmax_joint=0.972789;gnomADv4_1_AF_joint=0.92784;gnomADv4_1_AF_joint_XX=0.925481;gnomADv4_1_AF_joint_XY=0.930306;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152246;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=65531;gnomADv4_1_nhomalt_joint_XX=33300;gnomADv4_1_nhomalt_joint_XY=32231;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27110964 chr22_27110964_C_T C T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=2.036;CADD_Rawscore=0.168597;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs738163|3945|1||||||||||||Ensembl||C|C||||chr22:g.27110964C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-4603G>A|||||||rs738163||-1||||||||||||Ensembl||C|C||||chr22:g.27110964C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7D9B|enhancer||||||||||rs738163|||||||||||||||||||||chr22:g.27110964C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000623947,ENST00000775158,ENSR22_B7D9B;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280025,ENSG00000300936,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=129262;gnomADv4_1_AC_joint_XX=65752;gnomADv4_1_AC_joint_XY=63510;gnomADv4_1_AF_grpmax_joint=0.92924;gnomADv4_1_AF_joint=0.850665;gnomADv4_1_AF_joint_XX=0.8466;gnomADv4_1_AF_joint_XY=0.854916;gnomADv4_1_AN_grpmax_joint=5130;gnomADv4_1_AN_joint=151954;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=55544;gnomADv4_1_nhomalt_joint_XX=28087;gnomADv4_1_nhomalt_joint_XY=27457;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27111169 chr22_27111169_C_T C T 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=8.688;CADD_Rawscore=0.842107;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs738164|4150|1||||||||||||Ensembl||C|C||||chr22:g.27111169C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-4808G>A|||||||rs738164||-1||||||||||||Ensembl||C|C||||chr22:g.27111169C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7D9B|enhancer||||||||||rs738164|||||||||||||||||||||chr22:g.27111169C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000623947,ENST00000775158,ENSR22_B7D9B;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280025,ENSG00000300936,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=89238;gnomADv4_1_AC_joint_XX=45515;gnomADv4_1_AC_joint_XY=43723;gnomADv4_1_AF_grpmax_joint=0.682562;gnomADv4_1_AF_joint=0.586698;gnomADv4_1_AF_joint_XX=0.585537;gnomADv4_1_AF_joint_XY=0.587912;gnomADv4_1_AN_grpmax_joint=67988;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=27394;gnomADv4_1_nhomalt_joint_XX=13939;gnomADv4_1_nhomalt_joint_XY=13455;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27111392 chr22_27111392_C_A C A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.555;CADD_Rawscore=-0.16686;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs2013769|4373|1||||||||||||Ensembl||C|C||||chr22:g.27111392C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-5031G>T|||||||rs2013769||-1||||||||||||Ensembl||C|C||||chr22:g.27111392C>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7D9B|enhancer||||||||||rs2013769|||||||||||||||||||||chr22:g.27111392C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000623947,ENST00000775158,ENSR22_B7D9B;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280025,ENSG00000300936,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=129303;gnomADv4_1_AC_joint_XX=65783;gnomADv4_1_AC_joint_XY=63520;gnomADv4_1_AF_grpmax_joint=0.928738;gnomADv4_1_AF_joint=0.850622;gnomADv4_1_AF_joint_XX=0.846628;gnomADv4_1_AF_joint_XY=0.854797;gnomADv4_1_AN_grpmax_joint=5136;gnomADv4_1_AN_joint=152010;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=55556;gnomADv4_1_nhomalt_joint_XX=28097;gnomADv4_1_nhomalt_joint_XY=27459;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27111753 chr22_27111753_G_A G A 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.523;CADD_Rawscore=0.092115;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs9613375|4734|1||||||||||||Ensembl||G|G||||chr22:g.27111753G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-5392C>T|||||||rs9613375||-1||||||||||||Ensembl||G|G||||chr22:g.27111753G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=90376;gnomADv4_1_AC_joint_XX=46151;gnomADv4_1_AC_joint_XY=44225;gnomADv4_1_AF_grpmax_joint=0.682827;gnomADv4_1_AF_joint=0.595057;gnomADv4_1_AF_joint_XX=0.594546;gnomADv4_1_AF_joint_XY=0.595591;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=151878;gnomADv4_1_AN_joint_XX=77624;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=27887;gnomADv4_1_nhomalt_joint_XX=14199;gnomADv4_1_nhomalt_joint_XY=13688;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27111862 chr22_27111862_G_A G A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.723;CADD_Rawscore=-0.100794;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs9613376|4843|1||||||||||||Ensembl||G|G||||chr22:g.27111862G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-5501C>T|||||||rs9613376||-1||||||||||||Ensembl||G|G||||chr22:g.27111862G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=89201;gnomADv4_1_AC_joint_XX=45511;gnomADv4_1_AC_joint_XY=43690;gnomADv4_1_AF_grpmax_joint=0.682215;gnomADv4_1_AF_joint=0.586779;gnomADv4_1_AF_joint_XX=0.585667;gnomADv4_1_AF_joint_XY=0.587942;gnomADv4_1_AN_grpmax_joint=68002;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=27374;gnomADv4_1_nhomalt_joint_XX=13932;gnomADv4_1_nhomalt_joint_XY=13442;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27111875 chr22_27111875_C_T C T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.168;CADD_Rawscore=0.022653;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000280025|Transcript|ENST00000623947|lncRNA||||||||||rs62222853|4856|1||||||||||||Ensembl||C|C||||chr22:g.27111875C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-5514G>A|||||||rs62222853||-1||||||||||||Ensembl||C|C||||chr22:g.27111875C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623947,ENST00000775158;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280025,ENSG00000300936;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=32229;gnomADv4_1_AC_joint_XX=16068;gnomADv4_1_AC_joint_XY=16161;gnomADv4_1_AF_grpmax_joint=0.390655;gnomADv4_1_AF_joint=0.212013;gnomADv4_1_AF_joint_XX=0.206726;gnomADv4_1_AF_joint_XY=0.217545;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3829;gnomADv4_1_nhomalt_joint_XX=1836;gnomADv4_1_nhomalt_joint_XY=1993;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27112181 chr22_27112181_CAAAA_C CAAAA C 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.486;CADDIndel_Rawscore=-0.200206;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-5824_268-5821del|||||||rs56224833||-1||||||||||||Ensembl||AAAA|AAAA||||chr22:g.27112195_27112198del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000775158;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300936;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=84236;gnomADv4_1_AC_joint_XX=43427;gnomADv4_1_AC_joint_XY=40809;gnomADv4_1_AF_grpmax_joint=0.723485;gnomADv4_1_AF_joint=0.60984;gnomADv4_1_AF_joint_XX=0.607762;gnomADv4_1_AF_joint_XY=0.612068;gnomADv4_1_AN_grpmax_joint=264;gnomADv4_1_AN_joint=138128;gnomADv4_1_AN_joint_XX=71454;gnomADv4_1_AN_joint_XY=66674;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25438;gnomADv4_1_nhomalt_joint_XX=13083;gnomADv4_1_nhomalt_joint_XY=12355;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27112272 chr22_27112272_C_T C T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.691;CADD_Rawscore=0.119675;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-5911G>A|||||||rs9613377||-1||||||||||||Ensembl||C|C||||chr22:g.27112272C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000775158;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300936;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=124238;gnomADv4_1_AC_joint_XX=63073;gnomADv4_1_AC_joint_XY=61165;gnomADv4_1_AF_grpmax_joint=0.92896;gnomADv4_1_AF_joint=0.8177;gnomADv4_1_AF_joint_XX=0.812106;gnomADv4_1_AF_joint_XY=0.823549;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151936;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=52152;gnomADv4_1_nhomalt_joint_XX=26300;gnomADv4_1_nhomalt_joint_XY=25852;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27112548 chr22_27112548_G_A G A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.378;CADD_Rawscore=-0.263115;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-6187C>T|||||||rs5761984||-1||||||||||||Ensembl||G|G||||chr22:g.27112548G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000775158;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300936;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=132503;gnomADv4_1_AC_joint_XX=67181;gnomADv4_1_AC_joint_XY=65322;gnomADv4_1_AF_grpmax_joint=0.999613;gnomADv4_1_AF_joint=0.870162;gnomADv4_1_AF_joint_XX=0.863287;gnomADv4_1_AF_joint_XY=0.877347;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152274;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=58648;gnomADv4_1_nhomalt_joint_XX=29512;gnomADv4_1_nhomalt_joint_XY=29136;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27112896 chr22_27112896_A_G A G 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=3.415;CADD_Rawscore=0.313062;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-6535T>C|||||||rs4822859||-1||||||||||||Ensembl||A|A||||chr22:g.27112896A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4NMB|enhancer||||||||||rs4822859|||||||||||||||||||||chr22:g.27112896A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000775158,ENSR22_C4NMB;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000300936,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=30803;gnomADv4_1_AC_joint_XX=15270;gnomADv4_1_AC_joint_XY=15533;gnomADv4_1_AF_grpmax_joint=0.393038;gnomADv4_1_AF_joint=0.202526;gnomADv4_1_AF_joint_XX=0.196404;gnomADv4_1_AF_joint_XY=0.208929;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3659;gnomADv4_1_nhomalt_joint_XX=1740;gnomADv4_1_nhomalt_joint_XY=1919;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27113265 chr22_27113265_G_T G T 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.868;CADD_Rawscore=-0.054343;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-6904C>A|||||||rs1997633||-1||||||||||||Ensembl||G|G||||chr22:g.27113265G>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4NMB|enhancer||||||||||rs1997633|||||||||||||||||||||chr22:g.27113265G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000775158,ENSR22_C4NMB;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000300936,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=30848;gnomADv4_1_AC_joint_XX=15291;gnomADv4_1_AC_joint_XY=15557;gnomADv4_1_AF_grpmax_joint=0.391515;gnomADv4_1_AF_joint=0.202763;gnomADv4_1_AF_joint_XX=0.196618;gnomADv4_1_AF_joint_XY=0.209189;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3655;gnomADv4_1_nhomalt_joint_XX=1737;gnomADv4_1_nhomalt_joint_XY=1918;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27113807 chr22_27113807_C_T C T 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.79;CADD_Rawscore=-0.078342;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-7446G>A|||||||rs1997634||-1||||||||||||Ensembl||C|C||||chr22:g.27113807C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4NMB|enhancer||||||||||rs1997634|||||||||||||||||||||chr22:g.27113807C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000775158,ENSR22_C4NMB;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000300936,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=133139;gnomADv4_1_AC_joint_XX=67753;gnomADv4_1_AC_joint_XY=65386;gnomADv4_1_AF_grpmax_joint=0.959184;gnomADv4_1_AF_joint=0.875523;gnomADv4_1_AF_joint_XX=0.871556;gnomADv4_1_AF_joint_XY=0.879672;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=58680;gnomADv4_1_nhomalt_joint_XX=29722;gnomADv4_1_nhomalt_joint_XY=28958;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27113957 chr22_27113957_C_T C T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.251;CADD_Rawscore=0.298022;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-7596G>A|||||||rs5761987||-1||||||||||||Ensembl||C|C||||chr22:g.27113957C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000775158;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300936;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=132390;gnomADv4_1_AC_joint_XX=67353;gnomADv4_1_AC_joint_XY=65037;gnomADv4_1_AF_grpmax_joint=0.959184;gnomADv4_1_AF_joint=0.870437;gnomADv4_1_AF_joint_XX=0.866277;gnomADv4_1_AF_joint_XY=0.874788;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=58116;gnomADv4_1_nhomalt_joint_XX=29424;gnomADv4_1_nhomalt_joint_XY=28692;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27114270 chr22_27114270_G_T G T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.118;CADD_Rawscore=-0.566845;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-7909C>A|||||||rs5761988||-1||||||||||||Ensembl||G|G||||chr22:g.27114270G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000775158;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300936;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=132435;gnomADv4_1_AC_joint_XX=67353;gnomADv4_1_AC_joint_XY=65082;gnomADv4_1_AF_grpmax_joint=0.959184;gnomADv4_1_AF_joint=0.870481;gnomADv4_1_AF_joint_XX=0.866321;gnomADv4_1_AF_joint_XY=0.874829;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152140;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=58144;gnomADv4_1_nhomalt_joint_XX=29430;gnomADv4_1_nhomalt_joint_XY=28714;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27114566 chr22_27114566_A_G A G 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.326;CADD_Rawscore=0.055698;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-8205T>C|||||||rs9613379||-1||||||||||||Ensembl||A|A||||chr22:g.27114566A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000775158;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300936;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=133025;gnomADv4_1_AC_joint_XX=67706;gnomADv4_1_AC_joint_XY=65319;gnomADv4_1_AF_grpmax_joint=0.959184;gnomADv4_1_AF_joint=0.875752;gnomADv4_1_AF_joint_XX=0.871961;gnomADv4_1_AF_joint_XY=0.879717;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151898;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=58657;gnomADv4_1_nhomalt_joint_XX=29717;gnomADv4_1_nhomalt_joint_XY=28940;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27114664 chr22_27114664_G_A G A 23 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=23;CADD_PHREDscore=1.266;CADD_Rawscore=0.043674;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-8303C>T|||||||rs5761989||-1||||||||||||Ensembl||G|G||||chr22:g.27114664G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000775158;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300936;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=124198;gnomADv4_1_AC_joint_XX=64076;gnomADv4_1_AC_joint_XY=60122;gnomADv4_1_AF_grpmax_joint=0.948905;gnomADv4_1_AF_joint=0.870075;gnomADv4_1_AF_joint_XX=0.867392;gnomADv4_1_AF_joint_XY=0.872953;gnomADv4_1_AN_grpmax_joint=274;gnomADv4_1_AN_joint=142744;gnomADv4_1_AN_joint_XX=73872;gnomADv4_1_AN_joint_XY=68872;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=54353;gnomADv4_1_nhomalt_joint_XX=27941;gnomADv4_1_nhomalt_joint_XY=26412;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27114884 chr22_27114884_G_A G A 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.461;CADD_Rawscore=-0.213324;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-8523C>T|||||||rs5761991||-1||||||||||||Ensembl||G|G||||chr22:g.27114884G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000775158;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300936;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=85284;gnomADv4_1_AC_joint_XX=43596;gnomADv4_1_AC_joint_XY=41688;gnomADv4_1_AF_grpmax_joint=0.666534;gnomADv4_1_AF_joint=0.5646;gnomADv4_1_AF_joint_XX=0.563955;gnomADv4_1_AF_joint_XY=0.565276;gnomADv4_1_AN_grpmax_joint=67758;gnomADv4_1_AN_joint=151052;gnomADv4_1_AN_joint_XX=77304;gnomADv4_1_AN_joint_XY=73748;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25291;gnomADv4_1_nhomalt_joint_XX=12911;gnomADv4_1_nhomalt_joint_XY=12380;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27115006 chr22_27115006_C_CA C CA 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.874;CADDIndel_Rawscore=-0.052465;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-8646dup|||||||rs34601584||-1||||||||||||Ensembl|||||||chr22:g.27115019dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=ENST00000775158;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300936;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=82203;gnomADv4_1_AC_joint_XX=42499;gnomADv4_1_AC_joint_XY=39704;gnomADv4_1_AF_grpmax_joint=0.679246;gnomADv4_1_AF_joint=0.575821;gnomADv4_1_AF_joint_XX=0.576289;gnomADv4_1_AF_joint_XY=0.57532;gnomADv4_1_AN_grpmax_joint=65586;gnomADv4_1_AN_joint=142758;gnomADv4_1_AN_joint_XX=73746;gnomADv4_1_AN_joint_XY=69012;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=24416;gnomADv4_1_nhomalt_joint_XX=12661;gnomADv4_1_nhomalt_joint_XY=11755;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27115179 chr22_27115179_C_G C G 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.88;CADD_Rawscore=-0.050684;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.268-8818G>C|||||||rs73171662||-1||||||||||||Ensembl||C|C||||chr22:g.27115179C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000775158;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300936;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=5260;gnomADv4_1_AC_joint_XX=2753;gnomADv4_1_AC_joint_XY=2507;gnomADv4_1_AF_grpmax_joint=0.0532065;gnomADv4_1_AF_joint=0.0346203;gnomADv4_1_AF_joint_XX=0.0354549;gnomADv4_1_AF_joint_XY=0.0337479;gnomADv4_1_AN_grpmax_joint=67924;gnomADv4_1_AN_joint=151934;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=123;gnomADv4_1_nhomalt_joint_XX=70;gnomADv4_1_nhomalt_joint_XY=53;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27115658 chr22_27115658_AGAT_A AGAT A 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=1.993;CADDIndel_Rawscore=0.163052;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+8829_267+8831del|||||||rs35930972||-1||||||||||||Ensembl||GAT|GAT||||chr22:g.27115665_27115667del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000775158;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300936;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=9845;gnomADv4_1_AC_joint_XX=5248;gnomADv4_1_AC_joint_XY=4597;gnomADv4_1_AF_grpmax_joint=0.177051;gnomADv4_1_AF_joint=0.0646923;gnomADv4_1_AF_joint_XX=0.0674793;gnomADv4_1_AF_joint_XY=0.0617793;gnomADv4_1_AN_grpmax_joint=41440;gnomADv4_1_AN_joint=152182;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=696;gnomADv4_1_nhomalt_joint_XX=365;gnomADv4_1_nhomalt_joint_XY=331;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27115705 chr22_27115705_C_G C G 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.987;CADD_Rawscore=-0.02128;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+8785G>C|||||||rs969972||-1||||||||||||Ensembl||C|C||||chr22:g.27115705C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000775158;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300936;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=85632;gnomADv4_1_AC_joint_XX=43726;gnomADv4_1_AC_joint_XY=41906;gnomADv4_1_AF_grpmax_joint=0.660436;gnomADv4_1_AF_joint=0.56365;gnomADv4_1_AF_joint_XX=0.56316;gnomADv4_1_AF_joint_XY=0.564163;gnomADv4_1_AN_grpmax_joint=67940;gnomADv4_1_AN_joint=151924;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25249;gnomADv4_1_nhomalt_joint_XX=12876;gnomADv4_1_nhomalt_joint_XY=12373;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27115745 chr22_27115745_C_T C T 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=6.254;CADD_Rawscore=0.579165;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+8745G>A|||||||rs7364181||-1||||||||||||Ensembl||C|C||||chr22:g.27115745C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7DB3|enhancer||||||||||rs7364181|||||||||||||||||||||chr22:g.27115745C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000775158,ENSR22_B7DB3;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000300936,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=9964;gnomADv4_1_AC_joint_XX=5308;gnomADv4_1_AC_joint_XY=4656;gnomADv4_1_AF_grpmax_joint=0.179496;gnomADv4_1_AF_joint=0.0654648;gnomADv4_1_AF_joint_XX=0.0682508;gnomADv4_1_AF_joint_XY=0.0625537;gnomADv4_1_AN_grpmax_joint=41494;gnomADv4_1_AN_joint=152204;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=726;gnomADv4_1_nhomalt_joint_XX=384;gnomADv4_1_nhomalt_joint_XY=342;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27115786 chr22_27115786_T_C T C 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=5.198;CADD_Rawscore=0.474487;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+8704A>G|||||||rs5761992||-1||||||||||||Ensembl||T|T||||chr22:g.27115786T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7DB3|enhancer||||||||||rs5761992|||||||||||||||||||||chr22:g.27115786T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000775158,ENSR22_B7DB3;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000300936,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=23315;gnomADv4_1_AC_joint_XX=12173;gnomADv4_1_AC_joint_XY=11142;gnomADv4_1_AF_grpmax_joint=0.436071;gnomADv4_1_AF_joint=0.153207;gnomADv4_1_AF_joint_XX=0.156493;gnomADv4_1_AF_joint_XY=0.14977;gnomADv4_1_AN_grpmax_joint=41468;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4156;gnomADv4_1_nhomalt_joint_XX=2174;gnomADv4_1_nhomalt_joint_XY=1982;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27116257 chr22_27116257_A_T A T 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.112;CADD_Rawscore=0.00977;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+8233T>A|||||||rs1249031386||-1||||||||||||Ensembl||A|A||||chr22:g.27116257A>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7DB3|enhancer||||||||||rs1249031386|||||||||||||||||||||chr22:g.27116257A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000775158,ENSR22_B7DB3;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000300936,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=1;gnomADv4_1_AC_joint_XX=0;gnomADv4_1_AC_joint_XY=1;gnomADv4_1_AF_joint=6.57125e-06;gnomADv4_1_AF_joint_XX=0.0;gnomADv4_1_AF_joint_XY=1.3451e-05;gnomADv4_1_AN_joint=152178;gnomADv4_1_AN_joint_XX=77834;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27116263 chr22_27116263_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.457;CADD_Rawscore=-0.215746;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+8227T>C|||||||rs738150||-1||||||||||||Ensembl||A|A||||chr22:g.27116263A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7DB3|enhancer||||||||||rs738150|||||||||||||||||||||chr22:g.27116263A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000775158,ENSR22_B7DB3;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000300936,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=140482;gnomADv4_1_AC_joint_XX=71425;gnomADv4_1_AC_joint_XY=69057;gnomADv4_1_AF_grpmax_joint=0.999807;gnomADv4_1_AF_joint=0.922415;gnomADv4_1_AF_joint_XX=0.917682;gnomADv4_1_AF_joint_XY=0.927363;gnomADv4_1_AN_grpmax_joint=5188;gnomADv4_1_AN_joint=152298;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74466;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64867;gnomADv4_1_nhomalt_joint_XX=32794;gnomADv4_1_nhomalt_joint_XY=32073;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27116827 chr22_27116827_G_A G A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.983;CADD_Rawscore=-0.022238;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+7663C>T|||||||rs4820742||-1||||||||||||Ensembl||G|G||||chr22:g.27116827G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000775158;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300936;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=103500;gnomADv4_1_AC_joint_XX=52881;gnomADv4_1_AC_joint_XY=50619;gnomADv4_1_AF_grpmax_joint=0.794258;gnomADv4_1_AF_joint=0.68067;gnomADv4_1_AF_joint_XX=0.680316;gnomADv4_1_AF_joint_XY=0.68104;gnomADv4_1_AN_grpmax_joint=67988;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=37093;gnomADv4_1_nhomalt_joint_XX=18968;gnomADv4_1_nhomalt_joint_XY=18125;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27116839 chr22_27116839_C_T C T 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.87;CADD_Rawscore=0.146138;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+7651G>A|||||||rs4820743||-1||||||||||||Ensembl||C|C||||chr22:g.27116839C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000775158;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300936;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=103517;gnomADv4_1_AC_joint_XX=52875;gnomADv4_1_AC_joint_XY=50642;gnomADv4_1_AF_grpmax_joint=0.794245;gnomADv4_1_AF_joint=0.68071;gnomADv4_1_AF_joint_XX=0.680327;gnomADv4_1_AF_joint_XY=0.681111;gnomADv4_1_AN_grpmax_joint=68008;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=37107;gnomADv4_1_nhomalt_joint_XX=18968;gnomADv4_1_nhomalt_joint_XY=18139;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27117990 chr22_27117990_G_A G A 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=0.152;CADD_Rawscore=-0.500103;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+6500C>T|||||||rs190876650||-1||||||||||||Ensembl||G|G||||chr22:g.27117990G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000775158;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300936;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=329;gnomADv4_1_AC_joint_XX=144;gnomADv4_1_AC_joint_XY=185;gnomADv4_1_AF_grpmax_joint=0.0030287;gnomADv4_1_AF_joint=0.00216103;gnomADv4_1_AF_joint_XX=0.0018509;gnomADv4_1_AF_joint_XY=0.00248516;gnomADv4_1_AN_grpmax_joint=68016;gnomADv4_1_AN_joint=152242;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27118877 chr22_27118877_C_T C T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.255;CADD_Rawscore=-0.363707;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+5613G>A|||||||rs1005267||-1||||||||||||Ensembl||C|C||||chr22:g.27118877C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000775158;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300936;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=140116;gnomADv4_1_AC_joint_XX=71262;gnomADv4_1_AC_joint_XY=68854;gnomADv4_1_AF_grpmax_joint=0.999419;gnomADv4_1_AF_joint=0.920955;gnomADv4_1_AF_joint_XX=0.916529;gnomADv4_1_AF_joint_XY=0.925581;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64630;gnomADv4_1_nhomalt_joint_XX=32704;gnomADv4_1_nhomalt_joint_XY=31926;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27119802 chr22_27119802_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=7.021;CADD_Rawscore=0.660323;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+4688T>C|||||||rs1005268||-1||||||||||||Ensembl||A|A||||chr22:g.27119802A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs1005268|4697|1||||||||||||Ensembl||A|A||||chr22:g.27119802A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=140035;gnomADv4_1_AC_joint_XX=71204;gnomADv4_1_AC_joint_XY=68831;gnomADv4_1_AF_grpmax_joint=0.999421;gnomADv4_1_AF_joint=0.919903;gnomADv4_1_AF_joint_XX=0.915407;gnomADv4_1_AF_joint_XY=0.924601;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152228;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64528;gnomADv4_1_nhomalt_joint_XX=32656;gnomADv4_1_nhomalt_joint_XY=31872;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27120985 chr22_27120985_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=18.42;CADD_Rawscore=2.36765;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+3505A>G|||||||rs6005301||-1||||||||||||Ensembl||T|T||||chr22:g.27120985T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs6005301|3514|1||||||||||||Ensembl||T|T||||chr22:g.27120985T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=145005;gnomADv4_1_AC_joint_XX=73846;gnomADv4_1_AC_joint_XY=71159;gnomADv4_1_AF_grpmax_joint=0.999807;gnomADv4_1_AF_joint=0.952927;gnomADv4_1_AF_joint_XX=0.949421;gnomADv4_1_AF_joint_XY=0.956592;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152168;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=69145;gnomADv4_1_nhomalt_joint_XX=35078;gnomADv4_1_nhomalt_joint_XY=34067;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27121729 chr22_27121729_A_C A C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.328;CADD_Rawscore=-0.299318;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+2761T>G|||||||rs973896||-1||||||||||||Ensembl||A|A||||chr22:g.27121729A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs973896|2770|1||||||||||||Ensembl||A|A||||chr22:g.27121729A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=145068;gnomADv4_1_AC_joint_XX=73866;gnomADv4_1_AC_joint_XY=71202;gnomADv4_1_AF_grpmax_joint=0.999806;gnomADv4_1_AF_joint=0.952702;gnomADv4_1_AF_joint_XX=0.949142;gnomADv4_1_AF_joint_XY=0.956425;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152270;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=69159;gnomADv4_1_nhomalt_joint_XX=35076;gnomADv4_1_nhomalt_joint_XY=34083;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27121838 chr22_27121838_T_C T C 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.412;CADD_Rawscore=-0.241656;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+2652A>G|||||||rs134940||-1||||||||||||Ensembl||T|T||||chr22:g.27121838T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs134940|2661|1||||||||||||Ensembl||T|T||||chr22:g.27121838T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=143878;gnomADv4_1_AC_joint_XX=73256;gnomADv4_1_AC_joint_XY=70622;gnomADv4_1_AF_grpmax_joint=0.999807;gnomADv4_1_AF_joint=0.944714;gnomADv4_1_AF_joint_XX=0.941255;gnomADv4_1_AF_joint_XY=0.948328;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152298;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74470;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67996;gnomADv4_1_nhomalt_joint_XX=34485;gnomADv4_1_nhomalt_joint_XY=33511;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27122853 chr22_27122853_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=9.305;CADD_Rawscore=0.904779;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+1637G>A|||||||rs737768||-1||||||||||||Ensembl||C|C||||chr22:g.27122853C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs737768|1646|1||||||||||||Ensembl||C|C||||chr22:g.27122853C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=12684;gnomADv4_1_AC_joint_XX=6618;gnomADv4_1_AC_joint_XY=6066;gnomADv4_1_AF_grpmax_joint=0.113785;gnomADv4_1_AF_joint=0.0833596;gnomADv4_1_AF_joint_XX=0.0851036;gnomADv4_1_AF_joint_XY=0.0815366;gnomADv4_1_AN_grpmax_joint=67988;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=669;gnomADv4_1_nhomalt_joint_XX=354;gnomADv4_1_nhomalt_joint_XY=315;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27122986 chr22_27122986_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.259;CADD_Rawscore=-0.359605;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+1504C>T|||||||rs737767||-1||||||||||||Ensembl||G|G||||chr22:g.27122986G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs737767|1513|1||||||||||||Ensembl||G|G||||chr22:g.27122986G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=94138;gnomADv4_1_AC_joint_XX=47866;gnomADv4_1_AC_joint_XY=46272;gnomADv4_1_AF_grpmax_joint=0.732032;gnomADv4_1_AF_joint=0.619582;gnomADv4_1_AF_joint_XX=0.616068;gnomADv4_1_AF_joint_XY=0.623259;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=151938;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=30258;gnomADv4_1_nhomalt_joint_XX=15281;gnomADv4_1_nhomalt_joint_XY=14977;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27123149 chr22_27123149_A_AG A AG 21 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=21;CADDIndel_PHREDscore=0.129;CADDIndel_Rawscore=-0.542766;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+1340dup|||||||rs5844741||-1||||||||||||Ensembl|||||||chr22:g.27123151dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs5844741|1349|1||||||||||||Ensembl|||||||chr22:g.27123151dup|||||||||||||;TYPE=INDEL;VEP_Allele=G,G;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=11536;gnomADv4_1_AC_joint_XX=6223;gnomADv4_1_AC_joint_XY=5313;gnomADv4_1_AF_grpmax_joint=0.196162;gnomADv4_1_AF_joint=0.153266;gnomADv4_1_AF_joint_XX=0.15717;gnomADv4_1_AF_joint_XY=0.148932;gnomADv4_1_AN_grpmax_joint=35904;gnomADv4_1_AN_joint=75268;gnomADv4_1_AN_joint_XX=39594;gnomADv4_1_AN_joint_XY=35674;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=657;gnomADv4_1_nhomalt_joint_XX=361;gnomADv4_1_nhomalt_joint_XY=296;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27123152 chr22_27123152_C_G C G 48 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.055;CADD_Rawscore=-0.773138;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+1338G>C|||||||rs134941||-1||||||||||||Ensembl||C|C||||chr22:g.27123152C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs134941|1347|1||||||||||||Ensembl||C|C||||chr22:g.27123152C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=103835;gnomADv4_1_AC_joint_XX=54379;gnomADv4_1_AC_joint_XY=49456;gnomADv4_1_AF_grpmax_joint=0.84908;gnomADv4_1_AF_joint=0.793312;gnomADv4_1_AF_joint_XX=0.794666;gnomADv4_1_AF_joint_XY=0.791828;gnomADv4_1_AN_grpmax_joint=63292;gnomADv4_1_AN_joint=130888;gnomADv4_1_AN_joint_XX=68430;gnomADv4_1_AN_joint_XY=62458;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=39898;gnomADv4_1_nhomalt_joint_XX=20929;gnomADv4_1_nhomalt_joint_XY=18969;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27123159 chr22_27123159_A_G A G 40 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.095;CADD_Rawscore=0.00565;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+1331T>C|||||||rs695855||-1||||||||||||Ensembl||A|A||||chr22:g.27123159A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs695855|1340|1||||||||||||Ensembl||A|A||||chr22:g.27123159A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=72373;gnomADv4_1_AC_joint_XX=37813;gnomADv4_1_AC_joint_XY=34560;gnomADv4_1_AF_grpmax_joint=0.70315;gnomADv4_1_AF_joint=0.572345;gnomADv4_1_AF_joint_XX=0.571487;gnomADv4_1_AF_joint_XY=0.573286;gnomADv4_1_AN_grpmax_joint=3682;gnomADv4_1_AN_joint=126450;gnomADv4_1_AN_joint_XX=66166;gnomADv4_1_AN_joint_XY=60284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=20760;gnomADv4_1_nhomalt_joint_XX=10852;gnomADv4_1_nhomalt_joint_XY=9908;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27123160 chr22_27123160_T_A T A 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=33;CADD_PHREDscore=1.061;CADD_Rawscore=-0.002504;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+1330A>T|||||||rs738151||-1||||||||||||Ensembl||T|T||||chr22:g.27123160T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs738151|1339|1||||||||||||Ensembl||T|T||||chr22:g.27123160T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=75515;gnomADv4_1_AC_joint_XX=39552;gnomADv4_1_AC_joint_XY=35963;gnomADv4_1_AF_grpmax_joint=0.688275;gnomADv4_1_AF_joint=0.617094;gnomADv4_1_AF_joint_XX=0.618058;gnomADv4_1_AF_joint_XY=0.616037;gnomADv4_1_AN_grpmax_joint=3548;gnomADv4_1_AN_joint=122372;gnomADv4_1_AN_joint_XX=63994;gnomADv4_1_AN_joint_XY=58378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=21537;gnomADv4_1_nhomalt_joint_XX=11276;gnomADv4_1_nhomalt_joint_XY=10261;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27123655 chr22_27123655_C_T C T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.532;CADD_Rawscore=-0.177837;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+835G>A|||||||rs134942||-1||||||||||||Ensembl||C|C||||chr22:g.27123655C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs134942|844|1||||||||||||Ensembl||C|C||||chr22:g.27123655C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=44185;gnomADv4_1_AC_joint_XX=22817;gnomADv4_1_AC_joint_XY=21368;gnomADv4_1_AF_grpmax_joint=0.467778;gnomADv4_1_AF_joint=0.290454;gnomADv4_1_AF_joint_XX=0.293444;gnomADv4_1_AF_joint_XY=0.287328;gnomADv4_1_AN_grpmax_joint=41494;gnomADv4_1_AN_joint=152124;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7440;gnomADv4_1_nhomalt_joint_XX=3849;gnomADv4_1_nhomalt_joint_XY=3591;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27123825 chr22_27123825_T_G T G 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.123;CADD_Rawscore=-0.556412;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+665A>C|||||||rs134943||-1||||||||||||Ensembl||T|T||||chr22:g.27123825T>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs134943|674|1||||||||||||Ensembl||T|T||||chr22:g.27123825T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=15106;gnomADv4_1_AC_joint_XX=7918;gnomADv4_1_AC_joint_XY=7188;gnomADv4_1_AF_grpmax_joint=0.166667;gnomADv4_1_AF_joint=0.0992419;gnomADv4_1_AF_joint_XX=0.101766;gnomADv4_1_AF_joint_XY=0.0966025;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=952;gnomADv4_1_nhomalt_joint_XX=509;gnomADv4_1_nhomalt_joint_XY=443;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27124443 chr22_27124443_C_T C T 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=5.35;CADD_Rawscore=0.489018;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+47G>A|||||||rs78279276||-1||||||||||||Ensembl||C|C||||chr22:g.27124443C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs78279276|56|1||||||||||||Ensembl||C|C||||chr22:g.27124443C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RJCZ|promoter||||||||||rs78279276|||||||||||||||||||||chr22:g.27124443C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000775158,ENST00000775252,ENSR22_8RJCZ;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000300936,ENSG00000300959,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=2581;gnomADv4_1_AC_joint_XX=1344;gnomADv4_1_AC_joint_XY=1237;gnomADv4_1_AF_grpmax_joint=0.085034;gnomADv4_1_AF_joint=0.0169486;gnomADv4_1_AF_joint_XX=0.0172724;gnomADv4_1_AF_joint_XY=0.0166103;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152284;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=34;gnomADv4_1_nhomalt_joint_XX=17;gnomADv4_1_nhomalt_joint_XY=17;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27124479 chr22_27124479_C_G C G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.097;CADD_Rawscore=-0.62041;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||1/1|ENST00000775158.1:n.267+11G>C|||||||rs8137518||-1||||||||||||Ensembl||C|C||||chr22:g.27124479C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs8137518|20|1||||||||||||Ensembl||C|C||||chr22:g.27124479C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RJCZ|promoter||||||||||rs8137518|||||||||||||||||||||chr22:g.27124479C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000775158,ENST00000775252,ENSR22_8RJCZ;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000300936,ENSG00000300959,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=12944;gnomADv4_1_AC_joint_XX=6529;gnomADv4_1_AC_joint_XY=6415;gnomADv4_1_AF_grpmax_joint=0.146832;gnomADv4_1_AF_joint=0.0850337;gnomADv4_1_AF_joint_XX=0.083916;gnomADv4_1_AF_joint_XY=0.0862023;gnomADv4_1_AN_grpmax_joint=41510;gnomADv4_1_AN_joint=152222;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=704;gnomADv4_1_nhomalt_joint_XX=363;gnomADv4_1_nhomalt_joint_XY=341;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27124807 chr22_27124807_G_A G A 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=14.66;CADD_Rawscore=1.58312;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs56020504|51|-1||||||||||||Ensembl||G|G||||chr22:g.27124807G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA|1/1||ENST00000775252.1:n.309G>A||309|||||rs56020504||1||||||||||||Ensembl||G|G||||chr22:g.27124807G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RJD8|promoter||||||||||rs56020504|||||||||||||||||||||chr22:g.27124807G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000775158,ENST00000775252,ENSR22_8RJD8;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000300936,ENSG00000300959,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=26218;gnomADv4_1_AC_joint_XX=13359;gnomADv4_1_AC_joint_XY=12859;gnomADv4_1_AF_grpmax_joint=0.212676;gnomADv4_1_AF_joint=0.172355;gnomADv4_1_AF_joint_XX=0.17182;gnomADv4_1_AF_joint_XY=0.172915;gnomADv4_1_AN_grpmax_joint=68000;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2455;gnomADv4_1_nhomalt_joint_XX=1203;gnomADv4_1_nhomalt_joint_XY=1252;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27125152 chr22_27125152_G_T G T 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.044;CADD_Rawscore=-0.834486;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs134944|396|-1||||||||||||Ensembl||G|G||||chr22:g.27125152G>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA|1/1||ENST00000775252.1:n.654G>T||654|||||rs134944||1||||||||||||Ensembl||G|G||||chr22:g.27125152G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=19164;gnomADv4_1_AC_joint_XX=10152;gnomADv4_1_AC_joint_XY=9012;gnomADv4_1_AF_grpmax_joint=0.188125;gnomADv4_1_AF_joint=0.125936;gnomADv4_1_AF_joint_XX=0.130515;gnomADv4_1_AF_joint_XY=0.121149;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=152172;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1631;gnomADv4_1_nhomalt_joint_XX=904;gnomADv4_1_nhomalt_joint_XY=727;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27125464 chr22_27125464_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=5.374;CADD_Rawscore=0.491342;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs134945|708|-1||||||||||||Ensembl||A|A||||chr22:g.27125464A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs134945|225|1||||||||||||Ensembl||A|A||||chr22:g.27125464A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=138387;gnomADv4_1_AC_joint_XX=70889;gnomADv4_1_AC_joint_XY=67498;gnomADv4_1_AF_grpmax_joint=0.979592;gnomADv4_1_AF_joint=0.908659;gnomADv4_1_AF_joint_XX=0.910748;gnomADv4_1_AF_joint_XY=0.906476;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152298;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=63113;gnomADv4_1_nhomalt_joint_XX=32386;gnomADv4_1_nhomalt_joint_XY=30727;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27125837 chr22_27125837_G_GAT G GAT 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=2.363;CADDIndel_Rawscore=0.208395;CSQ=AT|upstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs34231111|1081|-1||||||||||||Ensembl|||||||chr22:g.27125838_27125839insTA|||||||||||||,AT|downstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs34231111|598|1||||||||||||Ensembl|||||||chr22:g.27125838_27125839insTA|||||||||||||;TYPE=INDEL;VEP_Allele=AT,AT;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=138298;gnomADv4_1_AC_joint_XX=70845;gnomADv4_1_AC_joint_XY=67453;gnomADv4_1_AF_grpmax_joint=0.979592;gnomADv4_1_AF_joint=0.908899;gnomADv4_1_AF_joint_XX=0.910885;gnomADv4_1_AF_joint_XY=0.906821;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=63093;gnomADv4_1_nhomalt_joint_XX=32373;gnomADv4_1_nhomalt_joint_XY=30720;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27126406 chr22_27126406_C_G C G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.336;CADD_Rawscore=-0.29321;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs134947|1650|-1||||||||||||Ensembl||C|C||||chr22:g.27126406C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs134947|1167|1||||||||||||Ensembl||C|C||||chr22:g.27126406C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=18951;gnomADv4_1_AC_joint_XX=10054;gnomADv4_1_AC_joint_XY=8897;gnomADv4_1_AF_grpmax_joint=0.18837;gnomADv4_1_AF_joint=0.124491;gnomADv4_1_AF_joint_XX=0.129196;gnomADv4_1_AF_joint_XY=0.11957;gnomADv4_1_AN_grpmax_joint=67994;gnomADv4_1_AN_joint=152228;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1645;gnomADv4_1_nhomalt_joint_XX=912;gnomADv4_1_nhomalt_joint_XY=733;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27126468 chr22_27126468_C_A C A 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.596;CADD_Rawscore=-0.149438;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs738152|1712|-1||||||||||||Ensembl||C|C||||chr22:g.27126468C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs738152|1229|1||||||||||||Ensembl||C|C||||chr22:g.27126468C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=71241;gnomADv4_1_AC_joint_XX=36363;gnomADv4_1_AC_joint_XY=34878;gnomADv4_1_AF_grpmax_joint=0.568493;gnomADv4_1_AF_joint=0.468432;gnomADv4_1_AF_joint_XX=0.467788;gnomADv4_1_AF_joint_XY=0.469106;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=16833;gnomADv4_1_nhomalt_joint_XX=8612;gnomADv4_1_nhomalt_joint_XY=8221;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27127295 chr22_27127295_TCATCCATC_T;chr22_27127295_T_TCATCCATC TCATCCATC T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=3.486;CADDIndel_Rawscore=0.319453;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs134948|2540|-1||||||||||||Ensembl||CATCCATC|CATCCATC||||chr22:g.27127340_27127347del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs134948|2057|1||||||||||||Ensembl||CATCCATC|CATCCATC||||chr22:g.27127340_27127347del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=18971;gnomADv4_1_AC_joint_XX=10052;gnomADv4_1_AC_joint_XY=8919;gnomADv4_1_AF_grpmax_joint=0.186634;gnomADv4_1_AF_joint=0.128405;gnomADv4_1_AF_joint_XX=0.132535;gnomADv4_1_AF_joint_XY=0.124047;gnomADv4_1_AN_grpmax_joint=66944;gnomADv4_1_AN_joint=147744;gnomADv4_1_AN_joint_XX=75844;gnomADv4_1_AN_joint_XY=71900;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1568;gnomADv4_1_nhomalt_joint_XX=871;gnomADv4_1_nhomalt_joint_XY=697;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27127295 chr22_27127295_TCATCCATC_T;chr22_27127295_T_TCATCCATC T TCATCCATC 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=5.406;CADDIndel_Rawscore=0.494476;CSQ=CATCCATC|upstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs134948|2539|-1||||||||||||Ensembl|||||||chr22:g.27127340_27127347dup|||||||||||||,CATCCATC|downstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs134948|2056|1||||||||||||Ensembl|||||||chr22:g.27127340_27127347dup|||||||||||||;TYPE=INDEL;VEP_Allele=CATCCATC,CATCCATC;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=17807;gnomADv4_1_AC_joint_XX=9048;gnomADv4_1_AC_joint_XY=8759;gnomADv4_1_AF_grpmax_joint=0.130039;gnomADv4_1_AF_joint=0.12056;gnomADv4_1_AF_joint_XX=0.119323;gnomADv4_1_AF_joint_XY=0.121866;gnomADv4_1_AN_grpmax_joint=39642;gnomADv4_1_AN_joint=147702;gnomADv4_1_AN_joint_XX=75828;gnomADv4_1_AN_joint_XY=71874;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1184;gnomADv4_1_nhomalt_joint_XX=584;gnomADv4_1_nhomalt_joint_XY=600;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27127523 chr22_27127523_C_A C A 43 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.428;CADD_Rawscore=-0.232143;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs5752494|2767|-1||||||||||||Ensembl||C|C||||chr22:g.27127523C>A|||1||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs5752494|2284|1||||||||||||Ensembl||C|C||||chr22:g.27127523C>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=98099;gnomADv4_1_AC_joint_XX=50027;gnomADv4_1_AC_joint_XY=48072;gnomADv4_1_AF_grpmax_joint=0.755102;gnomADv4_1_AF_joint=0.645278;gnomADv4_1_AF_joint_XX=0.643682;gnomADv4_1_AF_joint_XY=0.646946;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152026;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=32096;gnomADv4_1_nhomalt_joint_XX=16360;gnomADv4_1_nhomalt_joint_XY=15736;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27127902 chr22_27127902_C_T C T 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.046;CADD_Rawscore=-0.822469;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs134949|3146|-1||||||||||||Ensembl||C|C||||chr22:g.27127902C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs134949|2663|1||||||||||||Ensembl||C|C||||chr22:g.27127902C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=137801;gnomADv4_1_AC_joint_XX=70646;gnomADv4_1_AC_joint_XY=67155;gnomADv4_1_AF_grpmax_joint=0.979592;gnomADv4_1_AF_joint=0.904966;gnomADv4_1_AF_joint_XX=0.907603;gnomADv4_1_AF_joint_XY=0.902209;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152272;gnomADv4_1_AN_joint_XX=77838;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=62637;gnomADv4_1_nhomalt_joint_XX=32181;gnomADv4_1_nhomalt_joint_XY=30456;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27127986 chr22_27127986_C_T C T 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.227;CADD_Rawscore=-0.394317;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs134950|3230|-1||||||||||||Ensembl||C|C||||chr22:g.27127986C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs134950|2747|1||||||||||||Ensembl||C|C||||chr22:g.27127986C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=137716;gnomADv4_1_AC_joint_XX=70601;gnomADv4_1_AC_joint_XY=67115;gnomADv4_1_AF_grpmax_joint=0.979592;gnomADv4_1_AF_joint=0.904943;gnomADv4_1_AF_joint_XX=0.907608;gnomADv4_1_AF_joint_XY=0.902156;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152182;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=62599;gnomADv4_1_nhomalt_joint_XX=32160;gnomADv4_1_nhomalt_joint_XY=30439;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27128795 chr22_27128795_C_G C G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.804;CADD_Rawscore=0.136666;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs62222856|4039|-1||||||||||||Ensembl||C|C||||chr22:g.27128795C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs62222856|3556|1||||||||||||Ensembl||C|C||||chr22:g.27128795C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=19300;gnomADv4_1_AC_joint_XX=10224;gnomADv4_1_AC_joint_XY=9076;gnomADv4_1_AF_grpmax_joint=0.190158;gnomADv4_1_AF_joint=0.126912;gnomADv4_1_AF_joint_XX=0.131502;gnomADv4_1_AF_joint_XY=0.122111;gnomADv4_1_AN_grpmax_joint=67954;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1666;gnomADv4_1_nhomalt_joint_XX=923;gnomADv4_1_nhomalt_joint_XY=743;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27129043 chr22_27129043_C_T C T 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.324;CADD_Rawscore=-0.302342;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs73171678|4287|-1||||||||||||Ensembl||C|C||||chr22:g.27129043C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs73171678|3804|1||||||||||||Ensembl||C|C||||chr22:g.27129043C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=3570;gnomADv4_1_AC_joint_XX=1728;gnomADv4_1_AC_joint_XY=1842;gnomADv4_1_AF_grpmax_joint=0.0328021;gnomADv4_1_AF_joint=0.0234486;gnomADv4_1_AF_joint_XX=0.0222108;gnomADv4_1_AF_joint_XY=0.0247421;gnomADv4_1_AN_grpmax_joint=68014;gnomADv4_1_AN_joint=152248;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=65;gnomADv4_1_nhomalt_joint_XX=31;gnomADv4_1_nhomalt_joint_XY=34;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27129248 chr22_27129248_G_T G T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.168;CADD_Rawscore=-0.473065;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs73171679|4492|-1||||||||||||Ensembl||G|G||||chr22:g.27129248G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs73171679|4009|1||||||||||||Ensembl||G|G||||chr22:g.27129248G>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DQPX|enhancer||||||||||rs73171679|||||||||||||||||||||chr22:g.27129248G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000775158,ENST00000775252,ENSR22_9DQPX;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000300936,ENSG00000300959,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=25271;gnomADv4_1_AC_joint_XX=12830;gnomADv4_1_AC_joint_XY=12441;gnomADv4_1_AF_grpmax_joint=0.210729;gnomADv4_1_AF_joint=0.166088;gnomADv4_1_AF_joint_XX=0.164927;gnomADv4_1_AF_joint_XY=0.167303;gnomADv4_1_AN_grpmax_joint=68002;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2327;gnomADv4_1_nhomalt_joint_XX=1149;gnomADv4_1_nhomalt_joint_XY=1178;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27129401 chr22_27129401_T_C T C 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.549;CADD_Rawscore=-0.16964;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs134951|4645|-1||||||||||||Ensembl||T|T||||chr22:g.27129401T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs134951|4162|1||||||||||||Ensembl||T|T||||chr22:g.27129401T>C|||1||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DQPX|enhancer||||||||||rs134951|||||||||||||||||||||chr22:g.27129401T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000775158,ENST00000775252,ENSR22_9DQPX;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000300936,ENSG00000300959,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=32467;gnomADv4_1_AC_joint_XX=17126;gnomADv4_1_AC_joint_XY=15341;gnomADv4_1_AF_grpmax_joint=0.296243;gnomADv4_1_AF_joint=0.213251;gnomADv4_1_AF_joint_XX=0.220117;gnomADv4_1_AF_joint_XY=0.206074;gnomADv4_1_AN_grpmax_joint=41520;gnomADv4_1_AN_joint=152248;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3776;gnomADv4_1_nhomalt_joint_XX=2047;gnomADv4_1_nhomalt_joint_XY=1729;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27129712 chr22_27129712_C_T C T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.121;CADD_Rawscore=-0.559478;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000300936|Transcript|ENST00000775158|lncRNA||||||||||rs134952|4956|-1||||||||||||Ensembl||C|C||||chr22:g.27129712C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs134952|4473|1||||||||||||Ensembl||C|C||||chr22:g.27129712C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000775158,ENST00000775252;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000300936,ENSG00000300959;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=137777;gnomADv4_1_AC_joint_XX=70630;gnomADv4_1_AC_joint_XY=67147;gnomADv4_1_AF_grpmax_joint=0.979592;gnomADv4_1_AF_joint=0.904963;gnomADv4_1_AF_joint_XX=0.907654;gnomADv4_1_AF_joint_XY=0.90215;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152246;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=62626;gnomADv4_1_nhomalt_joint_XX=32178;gnomADv4_1_nhomalt_joint_XY=30448;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27130133 chr22_27130133_A_G A G 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.011;CADD_Rawscore=0.165322;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs11704703|4894|1||||||||||||Ensembl||A|A||||chr22:g.27130133A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000775252;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300959;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=61482;gnomADv4_1_AC_joint_XX=32070;gnomADv4_1_AC_joint_XY=29412;gnomADv4_1_AF_grpmax_joint=0.622047;gnomADv4_1_AF_joint=0.45022;gnomADv4_1_AF_joint_XX=0.449563;gnomADv4_1_AF_joint_XY=0.450938;gnomADv4_1_AN_grpmax_joint=254;gnomADv4_1_AN_joint=136560;gnomADv4_1_AN_joint_XX=71336;gnomADv4_1_AN_joint_XY=65224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=13971;gnomADv4_1_nhomalt_joint_XX=7296;gnomADv4_1_nhomalt_joint_XY=6675;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27130166 chr22_27130166_C_CT C CT 15 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=15;CADDIndel_PHREDscore=0.742;CADDIndel_Rawscore=-0.094229;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000300959|Transcript|ENST00000775252|lncRNA||||||||||rs71192983|4927|1||||||||||||Ensembl|||||||chr22:g.27130190dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=ENST00000775252;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000300959;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=45030;gnomADv4_1_AC_joint_XX=25586;gnomADv4_1_AC_joint_XY=19444;gnomADv4_1_AF_grpmax_joint=0.691117;gnomADv4_1_AF_joint=0.650178;gnomADv4_1_AF_joint_XX=0.657265;gnomADv4_1_AF_joint_XY=0.641081;gnomADv4_1_AN_grpmax_joint=40818;gnomADv4_1_AN_joint=69258;gnomADv4_1_AN_joint_XX=38928;gnomADv4_1_AN_joint_XY=30330;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=17436;gnomADv4_1_nhomalt_joint_XX=9877;gnomADv4_1_nhomalt_joint_XY=7559;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27130303 chr22_27130303_T_C T C 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.393;CADD_Rawscore=-0.253334;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs134953|||||||||||||||||||||chr22:g.27130303T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=138212;gnomADv4_1_AC_joint_XX=70952;gnomADv4_1_AC_joint_XY=67260;gnomADv4_1_AF_grpmax_joint=0.979592;gnomADv4_1_AF_joint=0.9114;gnomADv4_1_AF_joint_XX=0.914778;gnomADv4_1_AF_joint_XY=0.907864;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151648;gnomADv4_1_AN_joint_XX=77562;gnomADv4_1_AN_joint_XY=74086;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=63272;gnomADv4_1_nhomalt_joint_XX=32576;gnomADv4_1_nhomalt_joint_XY=30696;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27130809 chr22_27130809_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.16;CADD_Rawscore=-0.485506;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs134954|||||||||||||||||||||chr22:g.27130809T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=136966;gnomADv4_1_AC_joint_XX=70214;gnomADv4_1_AC_joint_XY=66752;gnomADv4_1_AF_grpmax_joint=0.979592;gnomADv4_1_AF_joint=0.899861;gnomADv4_1_AF_joint_XX=0.902447;gnomADv4_1_AF_joint_XY=0.897156;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152208;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=61904;gnomADv4_1_nhomalt_joint_XX=31797;gnomADv4_1_nhomalt_joint_XY=30107;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27131043 chr22_27131043_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.904;CADD_Rawscore=-0.043815;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DQQG|enhancer||||||||||rs1003704|||||||||||||||||||||chr22:g.27131043C>T|||||||||||||,T|intergenic_variant|MODIFIER|||||||||||||||rs1003704|||||||||||||||||||||chr22:g.27131043C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENSR22_9DQQG,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=96333;gnomADv4_1_AC_joint_XX=49106;gnomADv4_1_AC_joint_XY=47227;gnomADv4_1_AF_grpmax_joint=0.717687;gnomADv4_1_AF_joint=0.633386;gnomADv4_1_AF_joint_XX=0.631718;gnomADv4_1_AF_joint_XY=0.63513;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31046;gnomADv4_1_nhomalt_joint_XX=15805;gnomADv4_1_nhomalt_joint_XY=15241;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27131145 chr22_27131145_C_A C A 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=10.61;CADD_Rawscore=1.02452;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DQQG|enhancer||||||||||rs134955|||||||||||||||||||||chr22:g.27131145C>A|||||||||||||,A|intergenic_variant|MODIFIER|||||||||||||||rs134955|||||||||||||||||||||chr22:g.27131145C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENSR22_9DQQG,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=19300;gnomADv4_1_AC_joint_XX=10237;gnomADv4_1_AC_joint_XY=9063;gnomADv4_1_AF_grpmax_joint=0.189826;gnomADv4_1_AF_joint=0.126802;gnomADv4_1_AF_joint_XX=0.131601;gnomADv4_1_AF_joint_XY=0.121785;gnomADv4_1_AN_grpmax_joint=67994;gnomADv4_1_AN_joint=152206;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1651;gnomADv4_1_nhomalt_joint_XX=921;gnomADv4_1_nhomalt_joint_XY=730;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27131536 chr22_27131536_C_T C T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.033;CADD_Rawscore=0.168256;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs2880346|||||||||||||||||||||chr22:g.27131536C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=96948;gnomADv4_1_AC_joint_XX=49423;gnomADv4_1_AC_joint_XY=47525;gnomADv4_1_AF_grpmax_joint=0.717687;gnomADv4_1_AF_joint=0.637246;gnomADv4_1_AF_joint_XX=0.635568;gnomADv4_1_AF_joint_XY=0.639;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31409;gnomADv4_1_nhomalt_joint_XX=15994;gnomADv4_1_nhomalt_joint_XY=15415;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27132351 chr22_27132351_C_T C T 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.65;CADD_Rawscore=-0.127459;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs9625150|||||||||||||||||||||chr22:g.27132351C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=71061;gnomADv4_1_AC_joint_XX=36280;gnomADv4_1_AC_joint_XY=34781;gnomADv4_1_AF_grpmax_joint=0.578767;gnomADv4_1_AF_joint=0.46824;gnomADv4_1_AF_joint_XX=0.467478;gnomADv4_1_AF_joint_XY=0.469037;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151762;gnomADv4_1_AN_joint_XX=77608;gnomADv4_1_AN_joint_XY=74154;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=16743;gnomADv4_1_nhomalt_joint_XX=8567;gnomADv4_1_nhomalt_joint_XY=8176;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27132388 chr22_27132388_A_G A G 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.616;CADD_Rawscore=-0.14095;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs134956|||||||||||||||||||||chr22:g.27132388A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=137375;gnomADv4_1_AC_joint_XX=70429;gnomADv4_1_AC_joint_XY=66946;gnomADv4_1_AF_grpmax_joint=0.979592;gnomADv4_1_AF_joint=0.903248;gnomADv4_1_AF_joint_XX=0.906049;gnomADv4_1_AF_joint_XY=0.90032;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152090;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=62314;gnomADv4_1_nhomalt_joint_XX=32023;gnomADv4_1_nhomalt_joint_XY=30291;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27132614 chr22_27132614_GGGAA_G GGGAA G 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.44;CADDIndel_Rawscore=-0.22492;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs71192984|||||||||||||||||||||chr22:g.27132643_27132646del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=29477;gnomADv4_1_AC_joint_XX=15207;gnomADv4_1_AC_joint_XY=14270;gnomADv4_1_AF_grpmax_joint=0.258624;gnomADv4_1_AF_joint=0.216208;gnomADv4_1_AF_joint_XX=0.216384;gnomADv4_1_AF_joint_XY=0.216022;gnomADv4_1_AN_grpmax_joint=61456;gnomADv4_1_AN_joint=136336;gnomADv4_1_AN_joint_XX=70278;gnomADv4_1_AN_joint_XY=66058;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3120;gnomADv4_1_nhomalt_joint_XX=1632;gnomADv4_1_nhomalt_joint_XY=1488;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27132631 chr22_27132631_G_GGAAA G GGAAA 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.639;CADDIndel_Rawscore=-0.131832;CSQ=GAAA|intergenic_variant|MODIFIER|||||||||||||||rs134957|||||||||||||||||||||chr22:g.27132634_27132635insAGAA|||||||||||||;TYPE=INDEL;VEP_Allele=GAAA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=19229;gnomADv4_1_AC_joint_XX=10198;gnomADv4_1_AC_joint_XY=9031;gnomADv4_1_AF_grpmax_joint=0.189964;gnomADv4_1_AF_joint=0.127447;gnomADv4_1_AF_joint_XX=0.132047;gnomADv4_1_AF_joint_XY=0.122624;gnomADv4_1_AN_grpmax_joint=67634;gnomADv4_1_AN_joint=150878;gnomADv4_1_AN_joint_XX=77230;gnomADv4_1_AN_joint_XY=73648;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1658;gnomADv4_1_nhomalt_joint_XX=923;gnomADv4_1_nhomalt_joint_XY=735;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27134222 chr22_27134222_G_A G A 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.558;CADD_Rawscore=0.0981;CSQ=A|upstream_gene_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||||||||||rs16983773|3978|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27134222G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7DDN|enhancer||||||||||rs16983773|||||||||||||||||||||chr22:g.27134222G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=XR_001755607.2,ENSR22_B7DDN;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=107985534,.;VEP_SYMBOL=LOC107985534,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=9993;gnomADv4_1_AC_joint_XX=4630;gnomADv4_1_AC_joint_XY=5363;gnomADv4_1_AF_grpmax_joint=0.150232;gnomADv4_1_AF_joint=0.0656415;gnomADv4_1_AF_joint_XX=0.0594993;gnomADv4_1_AF_joint_XY=0.072064;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152236;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=477;gnomADv4_1_nhomalt_joint_XX=207;gnomADv4_1_nhomalt_joint_XY=270;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27134356 chr22_27134356_A_T A T 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.363;CADD_Rawscore=0.062978;CSQ=T|upstream_gene_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||||||||||rs5752495|3844|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27134356A>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7DDN|enhancer||||||||||rs5752495|||||||||||||||||||||chr22:g.27134356A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=XR_001755607.2,ENSR22_B7DDN;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=107985534,.;VEP_SYMBOL=LOC107985534,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=62279;gnomADv4_1_AC_joint_XX=31608;gnomADv4_1_AC_joint_XY=30671;gnomADv4_1_AF_grpmax_joint=0.557823;gnomADv4_1_AF_joint=0.40959;gnomADv4_1_AF_joint_XX=0.406659;gnomADv4_1_AF_joint_XY=0.412655;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152052;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=13620;gnomADv4_1_nhomalt_joint_XX=6882;gnomADv4_1_nhomalt_joint_XY=6738;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27134960 chr22_27134960_A_T A T 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.073;CADD_Rawscore=-0.695395;CSQ=T|upstream_gene_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||||||||||rs5761999|3240|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27134960A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=XR_001755607.2;VEP_Feature_type=Transcript;VEP_Gene=107985534;VEP_SYMBOL=LOC107985534;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=52673;gnomADv4_1_AC_joint_XX=26285;gnomADv4_1_AC_joint_XY=26388;gnomADv4_1_AF_grpmax_joint=0.524046;gnomADv4_1_AF_joint=0.346638;gnomADv4_1_AF_joint_XX=0.338349;gnomADv4_1_AF_joint_XY=0.355308;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=151954;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=9737;gnomADv4_1_nhomalt_joint_XX=4736;gnomADv4_1_nhomalt_joint_XY=5001;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27134979 chr22_27134979_A_C A C 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=2.241;CADD_Rawscore=0.194206;CSQ=C|upstream_gene_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||||||||||rs567164967|3221|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27134979A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=XR_001755607.2;VEP_Feature_type=Transcript;VEP_Gene=107985534;VEP_SYMBOL=LOC107985534;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=81;gnomADv4_1_AC_joint_XX=36;gnomADv4_1_AC_joint_XY=45;gnomADv4_1_AF_grpmax_joint=0.000784416;gnomADv4_1_AF_joint=0.000531985;gnomADv4_1_AF_joint_XX=0.000462689;gnomADv4_1_AF_joint_XY=0.0006044;gnomADv4_1_AN_grpmax_joint=15298;gnomADv4_1_AN_joint=152260;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27142016 chr22_27142016_A_AT A AT 44 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.293;CADDIndel_Rawscore=-0.327901;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||||||||||rs134960|1461|1||||2||||||||Ensembl|||||||chr22:g.27142033dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||1/2|XR_001755607.2:n.567-1426dup|||||||rs134960||1||EntrezGene||||||||||RefSeq||||||17|chr22:g.27142033dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=106590;gnomADv4_1_AC_joint_XX=56211;gnomADv4_1_AC_joint_XY=50379;gnomADv4_1_AF_grpmax_joint=0.931043;gnomADv4_1_AF_joint=0.818086;gnomADv4_1_AF_joint_XX=0.818162;gnomADv4_1_AF_joint_XY=0.818;gnomADv4_1_AN_grpmax_joint=3872;gnomADv4_1_AN_joint=130292;gnomADv4_1_AN_joint_XX=68704;gnomADv4_1_AN_joint_XY=61588;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=44261;gnomADv4_1_nhomalt_joint_XX=23326;gnomADv4_1_nhomalt_joint_XY=20935;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27142700 chr22_27142700_T_TGAGAGAGAGAGAGAGA T TGAGAGAGAGAGAGAGA 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=31;CADDIndel_PHREDscore=0.577;CADDIndel_Rawscore=-0.157485;CSQ=GAGAGAGAGAGAGAGA|upstream_gene_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||||||||||rs134961|777|1||||2||||||||Ensembl|||||||chr22:g.27142720_27142735dup|||||||||||||,GAGAGAGAGAGAGAGA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||1/2|XR_001755607.2:n.567-739_567-724dup|||||||rs134961||1||EntrezGene||||||||||RefSeq||||||35|chr22:g.27142720_27142735dup|||||||||||||;TYPE=INDEL;VEP_Allele=GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=3142;gnomADv4_1_AC_joint_XX=1789;gnomADv4_1_AC_joint_XY=1353;gnomADv4_1_AF_grpmax_joint=0.0387428;gnomADv4_1_AF_joint=0.0268478;gnomADv4_1_AF_joint_XX=0.0288735;gnomADv4_1_AF_joint_XY=0.0245687;gnomADv4_1_AN_grpmax_joint=58798;gnomADv4_1_AN_joint=117030;gnomADv4_1_AN_joint_XX=61960;gnomADv4_1_AN_joint_XY=55070;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=70;gnomADv4_1_nhomalt_joint_XX=39;gnomADv4_1_nhomalt_joint_XY=31;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27143241 chr22_27143241_T_C T C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.108;CADD_Rawscore=0.177947;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||||||||||rs5762004|237|1||||2||||||||Ensembl||T|T||||chr22:g.27143241T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||1/2|XR_001755607.2:n.567-218T>C|||||||rs5762004||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27143241T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=49836;gnomADv4_1_AC_joint_XX=25873;gnomADv4_1_AC_joint_XY=23963;gnomADv4_1_AF_grpmax_joint=0.434131;gnomADv4_1_AF_joint=0.327649;gnomADv4_1_AF_joint_XX=0.332755;gnomADv4_1_AF_joint_XY=0.322309;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9433;gnomADv4_1_nhomalt_joint_XX=5032;gnomADv4_1_nhomalt_joint_XY=4401;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27143781 chr22_27143781_C_T C T 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.797;CADD_Rawscore=-0.076216;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+252C>T|||||||rs5762005||1||||2||||||||Ensembl||C|C||||chr22:g.27143781C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||2/2|XR_001755607.2:n.637+252C>T|||||||rs5762005||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27143781C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=58145;gnomADv4_1_AC_joint_XX=30253;gnomADv4_1_AC_joint_XY=27892;gnomADv4_1_AF_grpmax_joint=0.442217;gnomADv4_1_AF_joint=0.382699;gnomADv4_1_AF_joint_XX=0.389497;gnomADv4_1_AF_joint_XY=0.375589;gnomADv4_1_AN_grpmax_joint=67926;gnomADv4_1_AN_joint=151934;gnomADv4_1_AN_joint_XX=77672;gnomADv4_1_AN_joint_XY=74262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11438;gnomADv4_1_nhomalt_joint_XX=6079;gnomADv4_1_nhomalt_joint_XY=5359;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27144017 chr22_27144017_CT_C CT C 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.406;CADDIndel_Rawscore=-0.245293;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+494del|||||||rs34846825||1||||2||||||||Ensembl||T|T|||5|chr22:g.27144023del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||2/2|XR_001755607.2:n.637+494del|||||||rs34846825||1||EntrezGene||||||||||RefSeq||T|T|||5|chr22:g.27144023del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=74045;gnomADv4_1_AC_joint_XX=38679;gnomADv4_1_AC_joint_XY=35366;gnomADv4_1_AF_grpmax_joint=0.644781;gnomADv4_1_AF_joint=0.489153;gnomADv4_1_AF_joint_XX=0.499483;gnomADv4_1_AF_joint_XY=0.478333;gnomADv4_1_AN_grpmax_joint=41214;gnomADv4_1_AN_joint=151374;gnomADv4_1_AN_joint_XX=77438;gnomADv4_1_AN_joint_XY=73936;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18921;gnomADv4_1_nhomalt_joint_XX=10079;gnomADv4_1_nhomalt_joint_XY=8842;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27144022 chr22_27144022_T_A T A 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.265;CADD_Rawscore=0.197091;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+493T>A|||||||rs35854459||1||||2||||||||Ensembl||T|T||||chr22:g.27144022T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||2/2|XR_001755607.2:n.637+493T>A|||||||rs35854459||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27144022T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=74134;gnomADv4_1_AC_joint_XX=38719;gnomADv4_1_AC_joint_XY=35415;gnomADv4_1_AF_grpmax_joint=0.644968;gnomADv4_1_AF_joint=0.489036;gnomADv4_1_AF_joint_XX=0.499445;gnomADv4_1_AF_joint_XY=0.478142;gnomADv4_1_AN_grpmax_joint=41292;gnomADv4_1_AN_joint=151592;gnomADv4_1_AN_joint_XX=77524;gnomADv4_1_AN_joint_XY=74068;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18954;gnomADv4_1_nhomalt_joint_XX=10093;gnomADv4_1_nhomalt_joint_XY=8861;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27144187 chr22_27144187_C_T C T 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=2.352;CADD_Rawscore=0.207177;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+658C>T|||||||rs5762006||1||||2||||||||Ensembl||C|C||||chr22:g.27144187C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||2/2|XR_001755607.2:n.637+658C>T|||||||rs5762006||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27144187C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=58107;gnomADv4_1_AC_joint_XX=30230;gnomADv4_1_AC_joint_XY=27877;gnomADv4_1_AF_grpmax_joint=0.4418;gnomADv4_1_AF_joint=0.3826;gnomADv4_1_AF_joint_XX=0.389301;gnomADv4_1_AF_joint_XY=0.375589;gnomADv4_1_AN_grpmax_joint=67938;gnomADv4_1_AN_joint=151874;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11407;gnomADv4_1_nhomalt_joint_XX=6063;gnomADv4_1_nhomalt_joint_XY=5344;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27144473 chr22_27144473_C_G C G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.723;CADD_Rawscore=-0.100908;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+944C>G|||||||rs5762007||1||||2||||||||Ensembl||C|C||||chr22:g.27144473C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||2/2|XR_001755607.2:n.637+944C>G|||||||rs5762007||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27144473C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=72054;gnomADv4_1_AC_joint_XX=37595;gnomADv4_1_AC_joint_XY=34459;gnomADv4_1_AF_grpmax_joint=0.58888;gnomADv4_1_AF_joint=0.474352;gnomADv4_1_AF_joint_XX=0.484122;gnomADv4_1_AF_joint_XY=0.464132;gnomADv4_1_AN_grpmax_joint=41404;gnomADv4_1_AN_joint=151900;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74244;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17607;gnomADv4_1_nhomalt_joint_XX=9372;gnomADv4_1_nhomalt_joint_XY=8235;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27144548 chr22_27144548_G_A G A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.593;CADD_Rawscore=-0.150647;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+1019G>A|||||||rs134962||1||||2||||||||Ensembl||G|G||||chr22:g.27144548G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||2/2|XR_001755607.2:n.637+1019G>A|||||||rs134962||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27144548G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=150882;gnomADv4_1_AC_joint_XX=77072;gnomADv4_1_AC_joint_XY=73810;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.990416;gnomADv4_1_AF_joint_XX=0.989956;gnomADv4_1_AF_joint_XY=0.990898;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152342;gnomADv4_1_AN_joint_XX=77854;gnomADv4_1_AN_joint_XY=74488;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=74721;gnomADv4_1_nhomalt_joint_XX=38150;gnomADv4_1_nhomalt_joint_XY=36571;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27144745 chr22_27144745_TGG_T TGG T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.491;CADDIndel_Rawscore=-0.197845;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+1225_52+1226del|||||||rs10551379||1||||2||||||||Ensembl||GG|GG|||8|chr22:g.27144754_27144755del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||2/2|XR_001755607.2:n.637+1225_637+1226del|||||||rs10551379||1||EntrezGene||||||||||RefSeq||GG|GG|||8|chr22:g.27144754_27144755del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=57040;gnomADv4_1_AC_joint_XX=29797;gnomADv4_1_AC_joint_XY=27243;gnomADv4_1_AF_grpmax_joint=0.495801;gnomADv4_1_AF_joint=0.449275;gnomADv4_1_AF_joint_XX=0.449766;gnomADv4_1_AF_joint_XY=0.44874;gnomADv4_1_AN_grpmax_joint=59778;gnomADv4_1_AN_joint=126960;gnomADv4_1_AN_joint_XX=66250;gnomADv4_1_AN_joint_XY=60710;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11822;gnomADv4_1_nhomalt_joint_XX=6235;gnomADv4_1_nhomalt_joint_XY=5587;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27144873 chr22_27144873_G_C G C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.32;CADD_Rawscore=-0.305816;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+1344G>C|||||||rs5762008||1||||2||||||||Ensembl||G|G||||chr22:g.27144873G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||2/2|XR_001755607.2:n.637+1344G>C|||||||rs5762008||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27144873G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=74037;gnomADv4_1_AC_joint_XX=38635;gnomADv4_1_AC_joint_XY=35402;gnomADv4_1_AF_grpmax_joint=0.627415;gnomADv4_1_AF_joint=0.487682;gnomADv4_1_AF_joint_XX=0.497745;gnomADv4_1_AF_joint_XY=0.477154;gnomADv4_1_AN_grpmax_joint=41408;gnomADv4_1_AN_joint=151814;gnomADv4_1_AN_joint_XX=77620;gnomADv4_1_AN_joint_XY=74194;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18746;gnomADv4_1_nhomalt_joint_XX=9956;gnomADv4_1_nhomalt_joint_XY=8790;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27145118 chr22_27145118_TACACACAC_T TACACACAC T 33 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=33;CADDIndel_PHREDscore=0.248;CADDIndel_Rawscore=-0.370862;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+1627_52+1634del|||||||rs10641077||1||||2||||||||Ensembl||ACACACAC|ACACACAC|||37|chr22:g.27145156_27145163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||2/2|XR_001755607.2:n.638-1568_638-1561del|||||||rs10641077||1||EntrezGene||||||||||RefSeq||ACACACAC|ACACACAC|||37|chr22:g.27145156_27145163del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=46743;gnomADv4_1_AC_joint_XX=24367;gnomADv4_1_AC_joint_XY=22376;gnomADv4_1_AF_grpmax_joint=0.410492;gnomADv4_1_AF_joint=0.316057;gnomADv4_1_AF_joint_XX=0.32061;gnomADv4_1_AF_joint_XY=0.311245;gnomADv4_1_AN_grpmax_joint=67044;gnomADv4_1_AN_joint=147894;gnomADv4_1_AN_joint_XX=76002;gnomADv4_1_AN_joint_XY=71892;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8226;gnomADv4_1_nhomalt_joint_XX=4406;gnomADv4_1_nhomalt_joint_XY=3820;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27145128 chr22_27145128_C_T C T 43 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.348;CADD_Rawscore=-0.28461;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+1599C>T|||||||rs528897310||1||||2||||||||Ensembl||C|C||||chr22:g.27145128C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||2/2|XR_001755607.2:n.638-1596C>T|||||||rs528897310||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27145128C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=50287;gnomADv4_1_AC_joint_XX=26149;gnomADv4_1_AC_joint_XY=24138;gnomADv4_1_AF_grpmax_joint=0.436881;gnomADv4_1_AF_joint=0.367096;gnomADv4_1_AF_joint_XX=0.372833;gnomADv4_1_AF_joint_XY=0.361077;gnomADv4_1_AN_grpmax_joint=63848;gnomADv4_1_AN_joint=136986;gnomADv4_1_AN_joint_XX=70136;gnomADv4_1_AN_joint_XY=66850;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9133;gnomADv4_1_nhomalt_joint_XX=4870;gnomADv4_1_nhomalt_joint_XY=4263;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27145130 chr22_27145130_C_T C T 42 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.178;CADD_Rawscore=-0.457071;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+1601C>T|||||||rs796350618||1||||2||||||||Ensembl||C|C||||chr22:g.27145130C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||2/2|XR_001755607.2:n.638-1594C>T|||||||rs796350618||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27145130C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=49725;gnomADv4_1_AC_joint_XX=25819;gnomADv4_1_AC_joint_XY=23906;gnomADv4_1_AF_grpmax_joint=0.419765;gnomADv4_1_AF_joint=0.340666;gnomADv4_1_AF_joint_XX=0.345719;gnomADv4_1_AF_joint_XY=0.335372;gnomADv4_1_AN_grpmax_joint=66380;gnomADv4_1_AN_joint=145964;gnomADv4_1_AN_joint_XX=74682;gnomADv4_1_AN_joint_XY=71282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8991;gnomADv4_1_nhomalt_joint_XX=4754;gnomADv4_1_nhomalt_joint_XY=4237;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27145932 chr22_27145932_C_G C G 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.865;CADD_Rawscore=-0.055228;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+2403C>G|||||||rs5762010||1||||2||||||||Ensembl||C|C||||chr22:g.27145932C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||2/2|XR_001755607.2:n.638-792C>G|||||||rs5762010||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27145932C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=72628;gnomADv4_1_AC_joint_XX=37961;gnomADv4_1_AC_joint_XY=34667;gnomADv4_1_AF_grpmax_joint=0.601819;gnomADv4_1_AF_joint=0.477898;gnomADv4_1_AF_joint_XX=0.488621;gnomADv4_1_AF_joint_XY=0.466682;gnomADv4_1_AN_grpmax_joint=41446;gnomADv4_1_AN_joint=151974;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17981;gnomADv4_1_nhomalt_joint_XX=9578;gnomADv4_1_nhomalt_joint_XY=8403;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27146882 chr22_27146882_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.222;CADD_Rawscore=-0.400207;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+3353A>G|||||||rs16983783||1||||2||||||||Ensembl||A|A||||chr22:g.27146882A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA|3/3||XR_001755607.2:n.796A>G||796|||||rs16983783||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27146882A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=57077;gnomADv4_1_AC_joint_XX=29662;gnomADv4_1_AC_joint_XY=27415;gnomADv4_1_AF_grpmax_joint=0.45435;gnomADv4_1_AF_joint=0.375442;gnomADv4_1_AF_joint_XX=0.381632;gnomADv4_1_AF_joint_XY=0.368967;gnomADv4_1_AN_grpmax_joint=67952;gnomADv4_1_AN_joint=152026;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11439;gnomADv4_1_nhomalt_joint_XX=6043;gnomADv4_1_nhomalt_joint_XY=5396;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27146984 chr22_27146984_C_G C G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.206;CADD_Rawscore=0.030883;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+3455C>G|||||||rs9608582||1||||2||||||||Ensembl||C|C||||chr22:g.27146984C>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA|3/3||XR_001755607.2:n.898C>G||898|||||rs9608582||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27146984C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=53001;gnomADv4_1_AC_joint_XX=27524;gnomADv4_1_AC_joint_XY=25477;gnomADv4_1_AF_grpmax_joint=0.453182;gnomADv4_1_AF_joint=0.348416;gnomADv4_1_AF_joint_XX=0.353906;gnomADv4_1_AF_joint_XY=0.342672;gnomADv4_1_AN_grpmax_joint=67986;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10498;gnomADv4_1_nhomalt_joint_XX=5568;gnomADv4_1_nhomalt_joint_XY=4930;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27148234 chr22_27148234_G_T G T 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=2.74;CADD_Rawscore=0.24883;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+4705G>T|||||||rs16983786||1||||2||||||||Ensembl||G|G||||chr22:g.27148234G>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA|3/3||XR_001755607.2:n.2148G>T||2148|||||rs16983786||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27148234G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=66099;gnomADv4_1_AC_joint_XX=34459;gnomADv4_1_AC_joint_XY=31640;gnomADv4_1_AF_grpmax_joint=0.466395;gnomADv4_1_AF_joint=0.435183;gnomADv4_1_AF_joint_XX=0.443762;gnomADv4_1_AF_joint_XY=0.426208;gnomADv4_1_AN_grpmax_joint=67936;gnomADv4_1_AN_joint=151888;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14581;gnomADv4_1_nhomalt_joint_XX=7743;gnomADv4_1_nhomalt_joint_XY=6838;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27149248 chr22_27149248_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.059;CADD_Rawscore=-0.753464;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+5719A>G|||||||rs1028285||1||||2||||||||Ensembl||A|A||||chr22:g.27149248A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||||||||||rs1028285|24|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27149248A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=68854;gnomADv4_1_AC_joint_XX=35881;gnomADv4_1_AC_joint_XY=32973;gnomADv4_1_AF_grpmax_joint=0.495748;gnomADv4_1_AF_joint=0.45316;gnomADv4_1_AF_joint_XX=0.461944;gnomADv4_1_AF_joint_XY=0.443973;gnomADv4_1_AN_grpmax_joint=41390;gnomADv4_1_AN_joint=151942;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=15874;gnomADv4_1_nhomalt_joint_XX=8400;gnomADv4_1_nhomalt_joint_XY=7474;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27149342 chr22_27149342_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.017;CADD_Rawscore=-0.013415;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+5813A>G|||||||rs1028286||1||||2||||||||Ensembl||A|A||||chr22:g.27149342A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||||||||||rs1028286|118|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27149342A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=70015;gnomADv4_1_AC_joint_XX=36487;gnomADv4_1_AC_joint_XY=33528;gnomADv4_1_AF_grpmax_joint=0.522846;gnomADv4_1_AF_joint=0.460959;gnomADv4_1_AF_joint_XX=0.469975;gnomADv4_1_AF_joint_XY=0.451531;gnomADv4_1_AN_grpmax_joint=41408;gnomADv4_1_AN_joint=151890;gnomADv4_1_AN_joint_XX=77636;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=16480;gnomADv4_1_nhomalt_joint_XX=8709;gnomADv4_1_nhomalt_joint_XY=7771;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27150815 chr22_27150815_T_G T G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=4.252;CADD_Rawscore=0.387601;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.52+7286T>G|||||||rs5997182||1||||2||||||||Ensembl||T|T||||chr22:g.27150815T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||||||||||rs5997182|1591|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27150815T>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4NQ2|enhancer||||||||||rs5997182|||||||||||||||||||||chr22:g.27150815T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000430468,XR_001755607.2,ENSR22_C4NQ2;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000231405,107985534,.;VEP_SYMBOL=.,LOC107985534,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=84538;gnomADv4_1_AC_joint_XX=44093;gnomADv4_1_AC_joint_XY=40445;gnomADv4_1_AF_grpmax_joint=0.64943;gnomADv4_1_AF_joint=0.556288;gnomADv4_1_AF_joint_XX=0.567711;gnomADv4_1_AF_joint_XY=0.544347;gnomADv4_1_AN_grpmax_joint=41424;gnomADv4_1_AN_joint=151968;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24178;gnomADv4_1_nhomalt_joint_XX=12831;gnomADv4_1_nhomalt_joint_XY=11347;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27151572 chr22_27151572_GT_G;chr22_27151572_G_T GT G 41 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=41;CADDIndel_PHREDscore=0.591;CADDIndel_Rawscore=-0.151557;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.53-7868del|||||||rs35578449||1||||2||||||||Ensembl||T|T|||17|chr22:g.27151590del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||||||||||rs35578449|2349|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27151590del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=48497;gnomADv4_1_AC_joint_XX=25583;gnomADv4_1_AC_joint_XY=22914;gnomADv4_1_AF_grpmax_joint=0.450797;gnomADv4_1_AF_joint=0.438593;gnomADv4_1_AF_joint_XX=0.441162;gnomADv4_1_AF_joint_XY=0.43576;gnomADv4_1_AN_grpmax_joint=55484;gnomADv4_1_AN_joint=110574;gnomADv4_1_AN_joint_XX=57990;gnomADv4_1_AN_joint_XY=52584;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8818;gnomADv4_1_nhomalt_joint_XX=4684;gnomADv4_1_nhomalt_joint_XY=4134;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27151572 chr22_27151572_GT_G;chr22_27151572_G_T G T 41 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=21;CADD_PHREDscore=0.244;CADD_Rawscore=-0.375044;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.53-7886G>T|||||||rs58233815||1||||2||||||||Ensembl||G|G||||chr22:g.27151572G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||||||||||rs58233815|2348|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27151572G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=21198;gnomADv4_1_AC_joint_XX=11386;gnomADv4_1_AC_joint_XY=9812;gnomADv4_1_AF_grpmax_joint=0.234647;gnomADv4_1_AF_joint=0.193088;gnomADv4_1_AF_joint_XX=0.197564;gnomADv4_1_AF_joint_XY=0.188142;gnomADv4_1_AN_grpmax_joint=55232;gnomADv4_1_AN_joint=109784;gnomADv4_1_AN_joint_XX=57632;gnomADv4_1_AN_joint_XY=52152;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2018;gnomADv4_1_nhomalt_joint_XX=1128;gnomADv4_1_nhomalt_joint_XY=890;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27153381 chr22_27153381_ATGTG_A;chr22_27153381_ATG_A ATGTG A 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=41;CADDIndel_PHREDscore=0.59;CADDIndel_Rawscore=-0.15181;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.53-6041_53-6038del|||||||rs55979965||1||||2||||||||Ensembl||TGTG|TGTG|||35|chr22:g.27153417_27153420del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||||||||||rs55979965|4158|1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.27153417_27153420del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=63941;gnomADv4_1_AC_joint_XX=33450;gnomADv4_1_AC_joint_XY=30491;gnomADv4_1_AF_grpmax_joint=0.573815;gnomADv4_1_AF_joint=0.501703;gnomADv4_1_AF_joint_XX=0.505837;gnomADv4_1_AF_joint_XY=0.497244;gnomADv4_1_AN_grpmax_joint=62440;gnomADv4_1_AN_joint=127448;gnomADv4_1_AN_joint_XX=66128;gnomADv4_1_AN_joint_XY=61320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15850;gnomADv4_1_nhomalt_joint_XX=8370;gnomADv4_1_nhomalt_joint_XY=7480;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27153381 chr22_27153381_ATGTG_A;chr22_27153381_ATG_A ATG A 41 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=25;CADDIndel_PHREDscore=0.246;CADDIndel_Rawscore=-0.372596;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.53-6039_53-6038del|||||||rs55979965||1||||2||||||||Ensembl||TG|TG|||37|chr22:g.27153419_27153420del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC107985534|107985534|Transcript|XR_001755607.2|lncRNA||||||||||rs55979965|4158|1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.27153419_27153420del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000430468,XR_001755607.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000231405,107985534;VEP_SYMBOL=.,LOC107985534;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=7175;gnomADv4_1_AC_joint_XX=3738;gnomADv4_1_AC_joint_XY=3437;gnomADv4_1_AF_grpmax_joint=0.119131;gnomADv4_1_AF_joint=0.0559568;gnomADv4_1_AF_joint_XX=0.0561734;gnomADv4_1_AF_joint_XY=0.0557231;gnomADv4_1_AN_grpmax_joint=4558;gnomADv4_1_AN_joint=128224;gnomADv4_1_AN_joint_XX=66544;gnomADv4_1_AN_joint_XY=61680;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=221;gnomADv4_1_nhomalt_joint_XX=129;gnomADv4_1_nhomalt_joint_XY=92;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27154802 chr22_27154802_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.052;CADD_Rawscore=-0.78688;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.53-4656A>G|||||||rs2223200||1||||2||||||||Ensembl||A|A||||chr22:g.27154802A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RK2M|enhancer||||||||||rs2223200|||||||||||||||||||||chr22:g.27154802A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000430468,ENSR22_8RK2M;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000231405,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=122196;gnomADv4_1_AC_joint_XX=63370;gnomADv4_1_AC_joint_XY=58826;gnomADv4_1_AF_grpmax_joint=0.953079;gnomADv4_1_AF_joint=0.807224;gnomADv4_1_AF_joint_XX=0.818903;gnomADv4_1_AF_joint_XY=0.79501;gnomADv4_1_AN_grpmax_joint=41048;gnomADv4_1_AN_joint=151378;gnomADv4_1_AN_joint_XX=77384;gnomADv4_1_AN_joint_XY=73994;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=50359;gnomADv4_1_nhomalt_joint_XX=26423;gnomADv4_1_nhomalt_joint_XY=23936;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27155644 chr22_27155644_T_A T A 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=1.866;CADD_Rawscore=0.14556;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.53-3814T>A|||||||rs146768582||1||||2||||||||Ensembl||T|T||||chr22:g.27155644T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||||||||||rs146768582|4217|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27155644T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||||||||||rs146768582|4236|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27155644T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000430468,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231405,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=.,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=3164;gnomADv4_1_AC_joint_XX=1573;gnomADv4_1_AC_joint_XY=1591;gnomADv4_1_AF_grpmax_joint=0.057971;gnomADv4_1_AF_joint=0.0214738;gnomADv4_1_AF_joint_XX=0.020814;gnomADv4_1_AF_joint_XY=0.0221687;gnomADv4_1_AN_grpmax_joint=276;gnomADv4_1_AN_joint=147342;gnomADv4_1_AN_joint_XX=75574;gnomADv4_1_AN_joint_XY=71768;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=52;gnomADv4_1_nhomalt_joint_XX=27;gnomADv4_1_nhomalt_joint_XY=25;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27156311 chr22_27156311_T_TA T TA 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=0.404;CADDIndel_Rawscore=-0.24677;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.53-3145dup|||||||rs134964||1||||2||||||||Ensembl||||||2|chr22:g.27156313dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||||||||||rs134964|3549|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27156313dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||||||||||rs134964|3568|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27156313dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A;VEP_Feature=ENST00000430468,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231405,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=.,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=152346;gnomADv4_1_AC_joint_XX=77868;gnomADv4_1_AC_joint_XY=74478;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68042;gnomADv4_1_AN_joint=152346;gnomADv4_1_AN_joint_XX=77868;gnomADv4_1_AN_joint_XY=74478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76173;gnomADv4_1_nhomalt_joint_XX=38934;gnomADv4_1_nhomalt_joint_XY=37239;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27156582 chr22_27156582_G_A G A 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.007;CADD_Rawscore=-1.35629;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.53-2876G>A|||||||rs134965||1||||2||||||||Ensembl||G|G||||chr22:g.27156582G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||||||||||rs134965|3279|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27156582G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||||||||||rs134965|3298|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27156582G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000430468,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231405,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=.,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=143174;gnomADv4_1_AC_joint_XX=73258;gnomADv4_1_AC_joint_XY=69916;gnomADv4_1_AF_grpmax_joint=0.986395;gnomADv4_1_AF_joint=0.939894;gnomADv4_1_AF_joint_XX=0.94087;gnomADv4_1_AF_joint_XY=0.938873;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152330;gnomADv4_1_AN_joint_XX=77862;gnomADv4_1_AN_joint_XY=74468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=67358;gnomADv4_1_nhomalt_joint_XX=34512;gnomADv4_1_nhomalt_joint_XY=32846;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27158668 chr22_27158668_G_T G T 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=0.779;CADD_Rawscore=-0.081831;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||1/1|ENST00000430468.1:n.53-790G>T|||||||rs134966||1||||2||||||||Ensembl||G|G||||chr22:g.27158668G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||||||||||rs134966|1193|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27158668G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||||||||||rs134966|1212|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27158668G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000430468,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231405,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=.,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=21603;gnomADv4_1_AC_joint_XX=10103;gnomADv4_1_AC_joint_XY=11500;gnomADv4_1_AF_grpmax_joint=0.531481;gnomADv4_1_AF_joint=0.14202;gnomADv4_1_AF_joint_XX=0.129949;gnomADv4_1_AF_joint_XY=0.154641;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=152112;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2506;gnomADv4_1_nhomalt_joint_XX=1067;gnomADv4_1_nhomalt_joint_XY=1439;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27161967 chr22_27161967_A_G A G 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=5.634;CADD_Rawscore=0.516671;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||||||||||rs134967|2089|1||||2||||||||Ensembl||A|A||||chr22:g.27161967A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.405-1876T>C|||||||rs134967||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27161967A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-1876T>C|||||||rs134967||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27161967A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000430468,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231405,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=.,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=108618;gnomADv4_1_AC_joint_XX=55728;gnomADv4_1_AC_joint_XY=52890;gnomADv4_1_AF_grpmax_joint=0.964424;gnomADv4_1_AF_joint=0.715034;gnomADv4_1_AF_joint_XX=0.717497;gnomADv4_1_AF_joint_XY=0.712458;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=151906;gnomADv4_1_AN_joint_XX=77670;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=38964;gnomADv4_1_nhomalt_joint_XX=20008;gnomADv4_1_nhomalt_joint_XY=18956;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27163354 chr22_27163354_TATGG_T TATGG T 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=2.594;CADDIndel_Rawscore=0.233725;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||||||||||rs151095872|3477|1||||2||||||||Ensembl||ATGG|ATGG||||chr22:g.27163380_27163383del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.405-3267_405-3264del|||||||rs151095872||-1||HGNC|HGNC:52425|||||||||Ensembl||ATGG|ATGG||||chr22:g.27163380_27163383del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-3267_247-3264del|||||||rs151095872||-1||HGNC|HGNC:52425|||||||||Ensembl||ATGG|ATGG||||chr22:g.27163380_27163383del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000430468,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231405,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=.,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=48380;gnomADv4_1_AC_joint_XX=25238;gnomADv4_1_AC_joint_XY=23142;gnomADv4_1_AF_grpmax_joint=0.405198;gnomADv4_1_AF_joint=0.34117;gnomADv4_1_AF_joint_XX=0.34621;gnomADv4_1_AF_joint_XY=0.335839;gnomADv4_1_AN_grpmax_joint=36940;gnomADv4_1_AN_joint=141806;gnomADv4_1_AN_joint_XX=72898;gnomADv4_1_AN_joint_XY=68908;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8149;gnomADv4_1_nhomalt_joint_XX=4291;gnomADv4_1_nhomalt_joint_XY=3858;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27163450 chr22_27163450_T_A T A 47 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.341;CADD_Rawscore=-0.289691;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||||||||||rs5997188|3572|1||||2||||||||Ensembl||T|T||||chr22:g.27163450T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.405-3359A>T|||||||rs5997188||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27163450T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-3359A>T|||||||rs5997188||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27163450T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000430468,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231405,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=.,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=112323;gnomADv4_1_AC_joint_XX=57617;gnomADv4_1_AC_joint_XY=54706;gnomADv4_1_AF_grpmax_joint=0.918956;gnomADv4_1_AF_joint=0.745876;gnomADv4_1_AF_joint_XX=0.747128;gnomADv4_1_AF_joint_XY=0.744563;gnomADv4_1_AN_grpmax_joint=5096;gnomADv4_1_AN_joint=150592;gnomADv4_1_AN_joint_XX=77118;gnomADv4_1_AN_joint_XY=73474;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41947;gnomADv4_1_nhomalt_joint_XX=21546;gnomADv4_1_nhomalt_joint_XY=20401;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27163850 chr22_27163850_G_C G C 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.039;CADD_Rawscore=-0.871562;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||||||||||rs9613386|3972|1||||2||||||||Ensembl||G|G||||chr22:g.27163850G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.405-3759C>G|||||||rs9613386||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27163850G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-3759C>G|||||||rs9613386||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27163850G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000430468,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231405,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=.,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=35846;gnomADv4_1_AC_joint_XX=18309;gnomADv4_1_AC_joint_XY=17537;gnomADv4_1_AF_grpmax_joint=0.37415;gnomADv4_1_AF_joint=0.235885;gnomADv4_1_AF_joint_XX=0.23568;gnomADv4_1_AF_joint_XY=0.2361;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4231;gnomADv4_1_nhomalt_joint_XX=2153;gnomADv4_1_nhomalt_joint_XY=2078;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27163940 chr22_27163940_G_A G A 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=17.59;CADD_Rawscore=2.18139;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||||||||||rs7287230|4062|1||||2||||||||Ensembl||G|G||||chr22:g.27163940G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.405-3849C>T|||||||rs7287230||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27163940G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-3849C>T|||||||rs7287230||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27163940G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000430468,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231405,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=.,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=92735;gnomADv4_1_AC_joint_XX=47960;gnomADv4_1_AC_joint_XY=44775;gnomADv4_1_AF_grpmax_joint=0.714286;gnomADv4_1_AF_joint=0.609834;gnomADv4_1_AF_joint_XX=0.61696;gnomADv4_1_AF_joint_XY=0.602381;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=28598;gnomADv4_1_nhomalt_joint_XX=14912;gnomADv4_1_nhomalt_joint_XY=13686;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27164614 chr22_27164614_A_T A T 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.258;CADD_Rawscore=-0.36047;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000231405|Transcript|ENST00000430468|lncRNA||||||||||rs1022465|4736|1||||2||||||||Ensembl||A|A||||chr22:g.27164614A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.405-4523T>A|||||||rs1022465||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27164614A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-4523T>A|||||||rs1022465||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27164614A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000430468,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231405,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=.,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=101698;gnomADv4_1_AC_joint_XX=52638;gnomADv4_1_AC_joint_XY=49060;gnomADv4_1_AF_grpmax_joint=0.748299;gnomADv4_1_AF_joint=0.668433;gnomADv4_1_AF_joint_XX=0.676825;gnomADv4_1_AF_joint_XY=0.659657;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=34454;gnomADv4_1_nhomalt_joint_XX=18012;gnomADv4_1_nhomalt_joint_XY=16442;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27165119 chr22_27165119_T_A T A 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.204;CADD_Rawscore=-0.421563;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.405-5028A>T|||||||rs1028287||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27165119T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-5028A>T|||||||rs1028287||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27165119T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=96779;gnomADv4_1_AC_joint_XX=50023;gnomADv4_1_AC_joint_XY=46756;gnomADv4_1_AF_grpmax_joint=0.736301;gnomADv4_1_AF_joint=0.636118;gnomADv4_1_AF_joint_XX=0.643217;gnomADv4_1_AF_joint_XY=0.628694;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152140;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31119;gnomADv4_1_nhomalt_joint_XX=16221;gnomADv4_1_nhomalt_joint_XY=14898;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27165538 chr22_27165538_G_A G A 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.169;CADD_Rawscore=-0.471247;CSQ=A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs738156|4932|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27165538G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.404+5169C>T|||||||rs738156||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27165538G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-5447C>T|||||||rs738156||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27165538G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=95118;gnomADv4_1_AC_joint_XX=49102;gnomADv4_1_AC_joint_XY=46016;gnomADv4_1_AF_grpmax_joint=0.721088;gnomADv4_1_AF_joint=0.625661;gnomADv4_1_AF_joint_XX=0.631862;gnomADv4_1_AF_joint_XY=0.619177;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=30054;gnomADv4_1_nhomalt_joint_XX=15620;gnomADv4_1_nhomalt_joint_XY=14434;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27165990 chr22_27165990_C_T C T 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.201;CADD_Rawscore=-0.425008;CSQ=T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs2342398|4480|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27165990C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.404+4717G>A|||||||rs2342398||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27165990C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-5899G>A|||||||rs2342398||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27165990C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=88117;gnomADv4_1_AC_joint_XX=45517;gnomADv4_1_AC_joint_XY=42600;gnomADv4_1_AF_grpmax_joint=0.658621;gnomADv4_1_AF_joint=0.583649;gnomADv4_1_AF_joint_XX=0.589705;gnomADv4_1_AF_joint_XY=0.577314;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=150976;gnomADv4_1_AN_joint_XX=77186;gnomADv4_1_AN_joint_XY=73790;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25886;gnomADv4_1_nhomalt_joint_XX=13442;gnomADv4_1_nhomalt_joint_XY=12444;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27165998 chr22_27165998_G_A G A 59 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.04;CADD_Rawscore=-0.865114;CSQ=A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs9306435|4472|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27165998G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.404+4709C>T|||||||rs9306435||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27165998G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-5907C>T|||||||rs9306435||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27165998G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=86394;gnomADv4_1_AC_joint_XX=44595;gnomADv4_1_AC_joint_XY=41799;gnomADv4_1_AF_grpmax_joint=0.65411;gnomADv4_1_AF_joint=0.572487;gnomADv4_1_AF_joint_XX=0.57785;gnomADv4_1_AF_joint_XY=0.566874;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=150910;gnomADv4_1_AN_joint_XX=77174;gnomADv4_1_AN_joint_XY=73736;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=24844;gnomADv4_1_nhomalt_joint_XX=12864;gnomADv4_1_nhomalt_joint_XY=11980;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27166178 chr22_27166178_G_A G A 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.715;CADD_Rawscore=-0.103711;CSQ=A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs9306436|4292|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27166178G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.404+4529C>T|||||||rs9306436||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27166178G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-6087C>T|||||||rs9306436||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27166178G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=88664;gnomADv4_1_AC_joint_XX=45786;gnomADv4_1_AC_joint_XY=42878;gnomADv4_1_AF_grpmax_joint=0.663265;gnomADv4_1_AF_joint=0.584346;gnomADv4_1_AF_joint_XX=0.589828;gnomADv4_1_AF_joint_XY=0.578604;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151732;gnomADv4_1_AN_joint_XX=77626;gnomADv4_1_AN_joint_XY=74106;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=26180;gnomADv4_1_nhomalt_joint_XX=13586;gnomADv4_1_nhomalt_joint_XY=12594;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27166222 chr22_27166222_G_A G A 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=5.444;CADD_Rawscore=0.498118;CSQ=A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs9784231|4248|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27166222G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.404+4485C>T|||||||rs9784231||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27166222G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-6131C>T|||||||rs9784231||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27166222G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=60589;gnomADv4_1_AC_joint_XX=30980;gnomADv4_1_AC_joint_XY=29609;gnomADv4_1_AF_grpmax_joint=0.527211;gnomADv4_1_AF_joint=0.399048;gnomADv4_1_AF_joint_XX=0.398918;gnomADv4_1_AF_joint_XY=0.399183;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151834;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=74174;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=12225;gnomADv4_1_nhomalt_joint_XX=6262;gnomADv4_1_nhomalt_joint_XY=5963;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27166290 chr22_27166290_AGAATGAAT_A AGAATGAAT A 49 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=7.837;CADDIndel_Rawscore=0.750569;CSQ=-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs72334397|4172|-1||HGNC|HGNC:52425|||||||||Ensembl||GAATGAAT|GAATGAAT||||chr22:g.27166322_27166329del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.404+4409_404+4416del|||||||rs72334397||-1||HGNC|HGNC:52425|||||||||Ensembl||GAATGAAT|GAATGAAT||||chr22:g.27166322_27166329del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-6207_247-6200del|||||||rs72334397||-1||HGNC|HGNC:52425|||||||||Ensembl||GAATGAAT|GAATGAAT||||chr22:g.27166322_27166329del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=62409;gnomADv4_1_AC_joint_XX=31984;gnomADv4_1_AC_joint_XY=30425;gnomADv4_1_AF_grpmax_joint=0.531245;gnomADv4_1_AF_joint=0.41616;gnomADv4_1_AF_joint_XX=0.416437;gnomADv4_1_AF_joint_XY=0.415869;gnomADv4_1_AN_grpmax_joint=40678;gnomADv4_1_AN_joint=149964;gnomADv4_1_AN_joint_XX=76804;gnomADv4_1_AN_joint_XY=73160;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=13316;gnomADv4_1_nhomalt_joint_XX=6868;gnomADv4_1_nhomalt_joint_XY=6448;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27167028 chr22_27167028_C_T C T 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.71;CADD_Rawscore=-0.105486;CSQ=T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs2018422|3442|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27167028C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.404+3679G>A|||||||rs2018422||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27167028C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-6937G>A|||||||rs2018422||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27167028C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=88242;gnomADv4_1_AC_joint_XX=45682;gnomADv4_1_AC_joint_XY=42560;gnomADv4_1_AF_grpmax_joint=0.659864;gnomADv4_1_AF_joint=0.580272;gnomADv4_1_AF_joint_XX=0.587686;gnomADv4_1_AF_joint_XY=0.57252;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=26196;gnomADv4_1_nhomalt_joint_XX=13722;gnomADv4_1_nhomalt_joint_XY=12474;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27167312 chr22_27167312_A_C A C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.198;CADD_Rawscore=0.029191;CSQ=C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs9625170|3158|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27167312A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.404+3395T>G|||||||rs9625170||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27167312A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-7221T>G|||||||rs9625170||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27167312A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=46802;gnomADv4_1_AC_joint_XX=23824;gnomADv4_1_AC_joint_XY=22978;gnomADv4_1_AF_grpmax_joint=0.37535;gnomADv4_1_AF_joint=0.307766;gnomADv4_1_AF_joint_XX=0.306521;gnomADv4_1_AF_joint_XY=0.309068;gnomADv4_1_AN_grpmax_joint=41444;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7424;gnomADv4_1_nhomalt_joint_XX=3814;gnomADv4_1_nhomalt_joint_XY=3610;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27167651 chr22_27167651_C_A C A 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.721;CADD_Rawscore=0.124225;CSQ=A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs6005319|2819|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27167651C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.404+3056G>T|||||||rs6005319||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27167651C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-7560G>T|||||||rs6005319||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27167651C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=91465;gnomADv4_1_AC_joint_XX=47213;gnomADv4_1_AC_joint_XY=44252;gnomADv4_1_AF_grpmax_joint=0.651185;gnomADv4_1_AF_joint=0.601633;gnomADv4_1_AF_joint_XX=0.607476;gnomADv4_1_AF_joint_XY=0.595521;gnomADv4_1_AN_grpmax_joint=67950;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=28088;gnomADv4_1_nhomalt_joint_XX=14601;gnomADv4_1_nhomalt_joint_XY=13487;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27167813 chr22_27167813_C_T C T 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.309;CADD_Rawscore=-0.314375;CSQ=T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs1519222|2657|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27167813C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.404+2894G>A|||||||rs1519222||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27167813C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-7722G>A|||||||rs1519222||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27167813C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=79192;gnomADv4_1_AC_joint_XX=40682;gnomADv4_1_AC_joint_XY=38510;gnomADv4_1_AF_grpmax_joint=0.604093;gnomADv4_1_AF_joint=0.521082;gnomADv4_1_AF_joint_XX=0.523659;gnomADv4_1_AF_joint_XY=0.518388;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=151976;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=21345;gnomADv4_1_nhomalt_joint_XX=11023;gnomADv4_1_nhomalt_joint_XY=10322;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27168951 chr22_27168951_C_CGGAT C CGGAT 46 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.934;CADDIndel_Rawscore=-0.035476;CSQ=GGAT|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs71192985|1518|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27168966_27168969dup|||||||||||||,GGAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.404+1752_404+1755dup|||||||rs71192985||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27168966_27168969dup|||||||||||||,GGAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-8864_247-8861dup|||||||rs71192985||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27168966_27168969dup|||||||||||||;TYPE=INDEL;VEP_Allele=GGAT,GGAT,GGAT;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=91985;gnomADv4_1_AC_joint_XX=47869;gnomADv4_1_AC_joint_XY=44116;gnomADv4_1_AF_grpmax_joint=0.767606;gnomADv4_1_AF_joint=0.615853;gnomADv4_1_AF_joint_XX=0.625526;gnomADv4_1_AF_joint_XY=0.605689;gnomADv4_1_AN_grpmax_joint=284;gnomADv4_1_AN_joint=149362;gnomADv4_1_AN_joint_XX=76526;gnomADv4_1_AN_joint_XY=72836;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=29527;gnomADv4_1_nhomalt_joint_XX=15639;gnomADv4_1_nhomalt_joint_XY=13888;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27169426 chr22_27169426_T_C T C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.498;CADD_Rawscore=-0.194115;CSQ=C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs760522|1044|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27169426T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.404+1281A>G|||||||rs760522||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27169426T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-9335A>G|||||||rs760522||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27169426T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=111876;gnomADv4_1_AC_joint_XX=57959;gnomADv4_1_AC_joint_XY=53917;gnomADv4_1_AF_grpmax_joint=0.815637;gnomADv4_1_AF_joint=0.73532;gnomADv4_1_AF_joint_XX=0.745108;gnomADv4_1_AF_joint_XY=0.725081;gnomADv4_1_AN_grpmax_joint=41516;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=41953;gnomADv4_1_nhomalt_joint_XX=21956;gnomADv4_1_nhomalt_joint_XY=19997;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27169996 chr22_27169996_C_T C T 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.985;CADD_Rawscore=0.27303;CSQ=T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs760523|474|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27169996C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.404+711G>A|||||||rs760523||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27169996C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-9905G>A|||||||rs760523||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27169996C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=75015;gnomADv4_1_AC_joint_XX=38587;gnomADv4_1_AC_joint_XY=36428;gnomADv4_1_AF_grpmax_joint=0.585616;gnomADv4_1_AF_joint=0.493422;gnomADv4_1_AF_joint_XX=0.496513;gnomADv4_1_AF_joint_XY=0.49019;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152030;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19354;gnomADv4_1_nhomalt_joint_XX=10008;gnomADv4_1_nhomalt_joint_XY=9346;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27170536 chr22_27170536_C_G C G 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.028;CADD_Rawscore=-0.010675;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA|4/4||ENST00000805083.1:n.682G>C||682|||||rs1108750&rs2149019285&rs2149019289&rs2149019291&rs2149019295||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27170536C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.404+171G>C|||||||rs1108750&rs2149019285&rs2149019289&rs2149019291&rs2149019295||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27170536C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-10445G>C|||||||rs1108750&rs2149019285&rs2149019289&rs2149019291&rs2149019295||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27170536C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7DKX|enhancer||||||||||rs1108750&rs2149019285&rs2149019289&rs2149019291&rs2149019295|||||||||||||||||||||chr22:g.27170536C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENSR22_B7DKX;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,.;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=75074;gnomADv4_1_AC_joint_XX=38619;gnomADv4_1_AC_joint_XY=36455;gnomADv4_1_AF_grpmax_joint=0.588435;gnomADv4_1_AF_joint=0.493531;gnomADv4_1_AF_joint_XX=0.496682;gnomADv4_1_AF_joint_XY=0.490237;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19383;gnomADv4_1_nhomalt_joint_XX=10023;gnomADv4_1_nhomalt_joint_XY=9360;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27170657 chr22_27170657_C_G C G 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=5.365;CADD_Rawscore=0.490524;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA|4/4||ENST00000805083.1:n.561G>C||561|||||rs2149019298&rs2149019299&rs2149019300&rs2149019303&rs849453||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27170657C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||3/3|ENST00000805084.1:n.404+50G>C|||||||rs2149019298&rs2149019299&rs2149019300&rs2149019303&rs849453||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27170657C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-10566G>C|||||||rs2149019298&rs2149019299&rs2149019300&rs2149019303&rs849453||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27170657C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7DKX|enhancer||||||||||rs2149019298&rs2149019299&rs2149019300&rs2149019303&rs849453|||||||||||||||||||||chr22:g.27170657C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENSR22_B7DKX;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,.;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=119783;gnomADv4_1_AC_joint_XX=62112;gnomADv4_1_AC_joint_XY=57671;gnomADv4_1_AF_grpmax_joint=0.866784;gnomADv4_1_AF_joint=0.787331;gnomADv4_1_AF_joint_XX=0.798478;gnomADv4_1_AF_joint_XY=0.775669;gnomADv4_1_AN_grpmax_joint=41534;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=48030;gnomADv4_1_nhomalt_joint_XX=25203;gnomADv4_1_nhomalt_joint_XY=22827;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27171358 chr22_27171358_A_G A G 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.407;CADD_Rawscore=0.07134;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-495T>C|||||||rs2149019307&rs2149019309&rs2149019311&rs2149019324&rs566185||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27171358A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.248-495T>C|||||||rs2149019307&rs2149019309&rs2149019311&rs2149019324&rs566185||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27171358A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-11267T>C|||||||rs2149019307&rs2149019309&rs2149019311&rs2149019324&rs566185||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27171358A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=111814;gnomADv4_1_AC_joint_XX=57943;gnomADv4_1_AC_joint_XY=53871;gnomADv4_1_AF_grpmax_joint=0.815385;gnomADv4_1_AF_joint=0.735077;gnomADv4_1_AF_joint_XX=0.744979;gnomADv4_1_AF_joint_XY=0.724715;gnomADv4_1_AN_grpmax_joint=41508;gnomADv4_1_AN_joint=152112;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=41923;gnomADv4_1_nhomalt_joint_XX=21950;gnomADv4_1_nhomalt_joint_XY=19973;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27172155 chr22_27172155_G_T G T 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.025;CADD_Rawscore=-0.989508;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-1292C>A|||||||rs481258||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27172155G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.248-1292C>A|||||||rs481258||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27172155G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-12064C>A|||||||rs481258||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27172155G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=86011;gnomADv4_1_AC_joint_XX=44352;gnomADv4_1_AC_joint_XY=41659;gnomADv4_1_AF_grpmax_joint=0.602041;gnomADv4_1_AF_joint=0.565505;gnomADv4_1_AF_joint_XX=0.570444;gnomADv4_1_AF_joint_XY=0.560339;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=24855;gnomADv4_1_nhomalt_joint_XX=12888;gnomADv4_1_nhomalt_joint_XY=11967;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27172260 chr22_27172260_A_G A G 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.604;CADD_Rawscore=0.329987;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-1397T>C|||||||rs556342||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27172260A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.248-1397T>C|||||||rs556342||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27172260A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-12169T>C|||||||rs556342||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27172260A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=111783;gnomADv4_1_AC_joint_XX=57903;gnomADv4_1_AC_joint_XY=53880;gnomADv4_1_AF_grpmax_joint=0.815384;gnomADv4_1_AF_joint=0.735134;gnomADv4_1_AF_joint_XX=0.744944;gnomADv4_1_AF_joint_XY=0.724876;gnomADv4_1_AN_grpmax_joint=41486;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=41910;gnomADv4_1_nhomalt_joint_XX=21933;gnomADv4_1_nhomalt_joint_XY=19977;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27173119 chr22_27173119_T_C T C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.087;CADD_Rawscore=0.003946;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-2256A>G|||||||rs475069||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27173119T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.248-2256A>G|||||||rs475069||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27173119T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.247-13028A>G|||||||rs475069||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27173119T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=125695;gnomADv4_1_AC_joint_XX=65277;gnomADv4_1_AC_joint_XY=60418;gnomADv4_1_AF_grpmax_joint=0.949754;gnomADv4_1_AF_joint=0.825963;gnomADv4_1_AF_joint_XX=0.83895;gnomADv4_1_AF_joint_XY=0.812376;gnomADv4_1_AN_grpmax_joint=41536;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=53130;gnomADv4_1_nhomalt_joint_XX=27961;gnomADv4_1_nhomalt_joint_XY=25169;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27174017 chr22_27174017_G_C G C 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.572;CADD_Rawscore=-0.159418;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-3154C>G|||||||rs1056||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27174017G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.248-3154C>G|||||||rs1056||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27174017G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+12213C>G|||||||rs1056||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27174017G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=123299;gnomADv4_1_AC_joint_XX=63961;gnomADv4_1_AC_joint_XY=59338;gnomADv4_1_AF_grpmax_joint=0.945578;gnomADv4_1_AF_joint=0.811423;gnomADv4_1_AF_joint_XX=0.8232;gnomADv4_1_AF_joint_XY=0.7991;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151954;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=50983;gnomADv4_1_nhomalt_joint_XX=26776;gnomADv4_1_nhomalt_joint_XY=24207;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27175077 chr22_27175077_T_TC T TC 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADDIndel_PHREDscore=10.25;CADDIndel_Rawscore=0.993264;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-4215dup|||||||rs59060475||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27175079dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.248-4215dup|||||||rs59060475||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27175079dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+11152dup|||||||rs59060475||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27175079dup|||||||||||||;TYPE=INDEL;VEP_Allele=C,C,C;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=111751;gnomADv4_1_AC_joint_XX=57898;gnomADv4_1_AC_joint_XY=53853;gnomADv4_1_AF_grpmax_joint=0.815784;gnomADv4_1_AF_joint=0.735243;gnomADv4_1_AF_joint_XX=0.74509;gnomADv4_1_AF_joint_XY=0.724941;gnomADv4_1_AN_grpmax_joint=41446;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=41904;gnomADv4_1_nhomalt_joint_XX=21939;gnomADv4_1_nhomalt_joint_XY=19965;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27175324 chr22_27175324_A_T A T 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=19.11;CADD_Rawscore=2.52711;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-4461T>A|||||||rs73171700||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27175324A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.248-4461T>A|||||||rs73171700||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27175324A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+10906T>A|||||||rs73171700||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27175324A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=2134;gnomADv4_1_AC_joint_XX=1110;gnomADv4_1_AC_joint_XY=1024;gnomADv4_1_AF_grpmax_joint=0.0231984;gnomADv4_1_AF_joint=0.0140126;gnomADv4_1_AF_joint_XX=0.0142615;gnomADv4_1_AF_joint_XY=0.0137524;gnomADv4_1_AN_grpmax_joint=68022;gnomADv4_1_AN_joint=152292;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=23;gnomADv4_1_nhomalt_joint_XX=14;gnomADv4_1_nhomalt_joint_XY=9;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27175426 chr22_27175426_GA_G;chr22_27175426_G_GA GA G 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.509;CADDIndel_Rawscore=-0.188865;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-4564del|||||||rs66877430||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27175439del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.248-4564del|||||||rs66877430||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27175439del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+10803del|||||||rs66877430||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27175439del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=30226;gnomADv4_1_AC_joint_XX=15925;gnomADv4_1_AC_joint_XY=14301;gnomADv4_1_AF_grpmax_joint=0.308333;gnomADv4_1_AF_joint=0.2159;gnomADv4_1_AF_joint_XX=0.22069;gnomADv4_1_AF_joint_XY=0.210805;gnomADv4_1_AN_grpmax_joint=240;gnomADv4_1_AN_joint=140000;gnomADv4_1_AN_joint_XX=72160;gnomADv4_1_AN_joint_XY=67840;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3252;gnomADv4_1_nhomalt_joint_XX=1708;gnomADv4_1_nhomalt_joint_XY=1544;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27175426 chr22_27175426_GA_G;chr22_27175426_G_GA G GA 43 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=20;CADDIndel_PHREDscore=0.791;CADDIndel_Rawscore=-0.077943;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-4564dup|||||||rs66877430||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27175439dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.248-4564dup|||||||rs66877430||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27175439dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+10803dup|||||||rs66877430||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27175439dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=241;gnomADv4_1_AC_joint_XX=123;gnomADv4_1_AC_joint_XY=118;gnomADv4_1_AF_grpmax_joint=0.004017;gnomADv4_1_AF_joint=0.00171964;gnomADv4_1_AF_joint_XX=0.00170266;gnomADv4_1_AF_joint_XY=0.0017377;gnomADv4_1_AN_grpmax_joint=38586;gnomADv4_1_AN_joint=140146;gnomADv4_1_AN_joint_XX=72240;gnomADv4_1_AN_joint_XY=67906;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27175461 chr22_27175461_G_A G A 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.042;CADD_Rawscore=-0.847548;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-4598C>T|||||||rs713815||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27175461G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.248-4598C>T|||||||rs713815||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27175461G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+10769C>T|||||||rs713815||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27175461G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=122605;gnomADv4_1_AC_joint_XX=63651;gnomADv4_1_AC_joint_XY=58954;gnomADv4_1_AF_grpmax_joint=0.945205;gnomADv4_1_AF_joint=0.808111;gnomADv4_1_AF_joint_XX=0.820033;gnomADv4_1_AF_joint_XY=0.795622;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151718;gnomADv4_1_AN_joint_XX=77620;gnomADv4_1_AN_joint_XY=74098;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=50525;gnomADv4_1_nhomalt_joint_XX=26560;gnomADv4_1_nhomalt_joint_XY=23965;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27175677 chr22_27175677_A_G A G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.266;CADD_Rawscore=0.043627;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-4814T>C|||||||rs13056281||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27175677A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.248-4814T>C|||||||rs13056281||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27175677A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+10553T>C|||||||rs13056281||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27175677A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=31633;gnomADv4_1_AC_joint_XX=16616;gnomADv4_1_AC_joint_XY=15017;gnomADv4_1_AF_grpmax_joint=0.251701;gnomADv4_1_AF_joint=0.208011;gnomADv4_1_AF_joint_XX=0.21381;gnomADv4_1_AF_joint_XY=0.20195;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3562;gnomADv4_1_nhomalt_joint_XX=1862;gnomADv4_1_nhomalt_joint_XY=1700;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27175783 chr22_27175783_C_CGTGT;chr22_27175783_CGT_C C CGTGT 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.151;CADDIndel_Rawscore=-0.501913;CSQ=GTGT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-4924_355-4921dup|||||||rs58809073||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27175803_27175806dup|||||||||||||,GTGT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.248-4924_248-4921dup|||||||rs58809073||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27175803_27175806dup|||||||||||||,GTGT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+10443_246+10446dup|||||||rs58809073||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27175803_27175806dup|||||||||||||;TYPE=INDEL;VEP_Allele=GTGT,GTGT,GTGT;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=71238;gnomADv4_1_AC_joint_XX=36734;gnomADv4_1_AC_joint_XY=34504;gnomADv4_1_AF_grpmax_joint=0.546155;gnomADv4_1_AF_joint=0.478512;gnomADv4_1_AF_joint_XX=0.481707;gnomADv4_1_AF_joint_XY=0.475157;gnomADv4_1_AN_grpmax_joint=40386;gnomADv4_1_AN_joint=148874;gnomADv4_1_AN_joint_XX=76258;gnomADv4_1_AN_joint_XY=72616;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17086;gnomADv4_1_nhomalt_joint_XX=8844;gnomADv4_1_nhomalt_joint_XY=8242;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27175783 chr22_27175783_C_CGTGT;chr22_27175783_CGT_C CGT C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.077;CADDIndel_Rawscore=-0.683;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-4922_355-4921del|||||||rs58809073||-1||HGNC|HGNC:52425|||||||||Ensembl||GT|GT||||chr22:g.27175805_27175806del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.248-4922_248-4921del|||||||rs58809073||-1||HGNC|HGNC:52425|||||||||Ensembl||GT|GT||||chr22:g.27175805_27175806del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+10445_246+10446del|||||||rs58809073||-1||HGNC|HGNC:52425|||||||||Ensembl||GT|GT||||chr22:g.27175805_27175806del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=23735;gnomADv4_1_AC_joint_XX=12467;gnomADv4_1_AC_joint_XY=11268;gnomADv4_1_AF_grpmax_joint=0.222222;gnomADv4_1_AF_joint=0.159366;gnomADv4_1_AF_joint_XX=0.163424;gnomADv4_1_AF_joint_XY=0.155104;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=148934;gnomADv4_1_AN_joint_XX=76286;gnomADv4_1_AN_joint_XY=72648;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2104;gnomADv4_1_nhomalt_joint_XX=1111;gnomADv4_1_nhomalt_joint_XY=993;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27176104 chr22_27176104_A_AGAAG A AGAAG 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=0.534;CADDIndel_Rawscore=-0.17678;CSQ=GAAG|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-5245_355-5242dup|||||||rs201217968||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27176118_27176121dup|||||||||||||,GAAG|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.248-5245_248-5242dup|||||||rs201217968||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27176118_27176121dup|||||||||||||,GAAG|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+10122_246+10125dup|||||||rs201217968||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27176118_27176121dup|||||||||||||;TYPE=INDEL;VEP_Allele=GAAG,GAAG,GAAG;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=28827;gnomADv4_1_AC_joint_XX=15310;gnomADv4_1_AC_joint_XY=13517;gnomADv4_1_AF_grpmax_joint=0.251724;gnomADv4_1_AF_joint=0.196067;gnomADv4_1_AF_joint_XX=0.202975;gnomADv4_1_AF_joint_XY=0.18879;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=147026;gnomADv4_1_AN_joint_XX=75428;gnomADv4_1_AN_joint_XY=71598;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3170;gnomADv4_1_nhomalt_joint_XX=1684;gnomADv4_1_nhomalt_joint_XY=1486;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27177783 chr22_27177783_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.38;CADD_Rawscore=-0.261788;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-6920G>A|||||||rs17349346||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27177783C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.248-6920G>A|||||||rs17349346||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27177783C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+8447G>A|||||||rs17349346||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27177783C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=24016;gnomADv4_1_AC_joint_XX=12586;gnomADv4_1_AC_joint_XY=11430;gnomADv4_1_AF_grpmax_joint=0.217687;gnomADv4_1_AF_joint=0.157917;gnomADv4_1_AF_joint_XX=0.161894;gnomADv4_1_AF_joint_XY=0.153757;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2186;gnomADv4_1_nhomalt_joint_XX=1146;gnomADv4_1_nhomalt_joint_XY=1040;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27178192 chr22_27178192_C_T C T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.015;CADD_Rawscore=-1.13421;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-7329G>A|||||||rs56252685||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27178192C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.248-7329G>A|||||||rs56252685||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27178192C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+8038G>A|||||||rs56252685||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27178192C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=41945;gnomADv4_1_AC_joint_XX=21994;gnomADv4_1_AC_joint_XY=19951;gnomADv4_1_AF_grpmax_joint=0.351619;gnomADv4_1_AF_joint=0.275802;gnomADv4_1_AF_joint_XX=0.282968;gnomADv4_1_AF_joint_XY=0.26831;gnomADv4_1_AN_grpmax_joint=41454;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6201;gnomADv4_1_nhomalt_joint_XX=3210;gnomADv4_1_nhomalt_joint_XY=2991;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27178842 chr22_27178842_A_G A G 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.019;CADD_Rawscore=-1.07049;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-7979T>C|||||||rs13058659||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27178842A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.247+7388T>C|||||||rs13058659||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27178842A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+7388T>C|||||||rs13058659||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27178842A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=33600;gnomADv4_1_AC_joint_XX=17543;gnomADv4_1_AC_joint_XY=16057;gnomADv4_1_AF_grpmax_joint=0.263073;gnomADv4_1_AF_joint=0.220861;gnomADv4_1_AF_joint_XX=0.225657;gnomADv4_1_AF_joint_XY=0.215849;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=152132;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4015;gnomADv4_1_nhomalt_joint_XX=2074;gnomADv4_1_nhomalt_joint_XY=1941;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27178934 chr22_27178934_A_G A G 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.907;CADD_Rawscore=-0.043078;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-8071T>C|||||||rs13053256||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27178934A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.247+7296T>C|||||||rs13053256||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27178934A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+7296T>C|||||||rs13053256||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27178934A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=33524;gnomADv4_1_AC_joint_XX=17511;gnomADv4_1_AC_joint_XY=16013;gnomADv4_1_AF_grpmax_joint=0.262739;gnomADv4_1_AF_joint=0.220779;gnomADv4_1_AF_joint_XX=0.22557;gnomADv4_1_AF_joint_XY=0.215768;gnomADv4_1_AN_grpmax_joint=67862;gnomADv4_1_AN_joint=151844;gnomADv4_1_AN_joint_XX=77630;gnomADv4_1_AN_joint_XY=74214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3976;gnomADv4_1_nhomalt_joint_XX=2058;gnomADv4_1_nhomalt_joint_XY=1918;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27178941 chr22_27178941_T_A T A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.156;CADD_Rawscore=-0.491887;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-8078A>T|||||||rs36039022||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27178941T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.247+7289A>T|||||||rs36039022||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27178941T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+7289A>T|||||||rs36039022||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27178941T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=33528;gnomADv4_1_AC_joint_XX=17511;gnomADv4_1_AC_joint_XY=16017;gnomADv4_1_AF_grpmax_joint=0.262545;gnomADv4_1_AF_joint=0.220422;gnomADv4_1_AF_joint_XX=0.225228;gnomADv4_1_AF_joint_XY=0.215398;gnomADv4_1_AN_grpmax_joint=67958;gnomADv4_1_AN_joint=152108;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3975;gnomADv4_1_nhomalt_joint_XX=2056;gnomADv4_1_nhomalt_joint_XY=1919;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27179155 chr22_27179155_C_A C A 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.157;CADD_Rawscore=-0.490676;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-8292G>T|||||||rs34731106||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27179155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.247+7075G>T|||||||rs34731106||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27179155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+7075G>T|||||||rs34731106||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27179155C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=45642;gnomADv4_1_AC_joint_XX=23907;gnomADv4_1_AC_joint_XY=21735;gnomADv4_1_AF_grpmax_joint=0.370884;gnomADv4_1_AF_joint=0.300249;gnomADv4_1_AF_joint_XX=0.30766;gnomADv4_1_AF_joint_XY=0.292499;gnomADv4_1_AN_grpmax_joint=41428;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7309;gnomADv4_1_nhomalt_joint_XX=3794;gnomADv4_1_nhomalt_joint_XY=3515;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27179580 chr22_27179580_A_G A G 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=2.027;CADD_Rawscore=0.167473;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-8717T>C|||||||rs550260||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27179580A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.247+6650T>C|||||||rs550260||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27179580A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+6650T>C|||||||rs550260||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27179580A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||||||||||rs550260|4934|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27179580A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=123866;gnomADv4_1_AC_joint_XX=64295;gnomADv4_1_AC_joint_XY=59571;gnomADv4_1_AF_grpmax_joint=0.945578;gnomADv4_1_AF_joint=0.814329;gnomADv4_1_AF_joint_XX=0.826711;gnomADv4_1_AF_joint_XY=0.801375;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152108;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=51478;gnomADv4_1_nhomalt_joint_XX=27068;gnomADv4_1_nhomalt_joint_XY=24410;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27181299 chr22_27181299_G_A G A 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.117;CADD_Rawscore=-0.570308;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-10436C>T|||||||rs975077||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27181299G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.247+4931C>T|||||||rs975077||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27181299G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+4931C>T|||||||rs975077||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27181299G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||||||||||rs975077|3215|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27181299G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=41304;gnomADv4_1_AC_joint_XX=21688;gnomADv4_1_AC_joint_XY=19616;gnomADv4_1_AF_grpmax_joint=0.340711;gnomADv4_1_AF_joint=0.271934;gnomADv4_1_AF_joint_XX=0.27924;gnomADv4_1_AF_joint_XY=0.264288;gnomADv4_1_AN_grpmax_joint=41384;gnomADv4_1_AN_joint=151890;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6003;gnomADv4_1_nhomalt_joint_XX=3120;gnomADv4_1_nhomalt_joint_XY=2883;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27183087 chr22_27183087_A_AT A AT 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=1.564;CADDIndel_Rawscore=0.099053;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-12225dup|||||||rs11389425||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27183095dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.247+3142dup|||||||rs11389425||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27183095dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+3142dup|||||||rs11389425||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27183095dup|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||||||||||rs11389425|1426|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27183095dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs11389425|4432|1||||||||||||Ensembl|||||||chr22:g.27183095dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs11389425|4432|1||||||||||||Ensembl|||||||chr22:g.27183095dup|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs11389425|4432|1||EntrezGene||||||||||RefSeq|||||||chr22:g.27183095dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42950;gnomADv4_1_AC_joint_XX=22508;gnomADv4_1_AC_joint_XY=20442;gnomADv4_1_AF_grpmax_joint=0.361418;gnomADv4_1_AF_joint=0.282729;gnomADv4_1_AF_joint_XX=0.289768;gnomADv4_1_AF_joint_XY=0.275365;gnomADv4_1_AN_grpmax_joint=41398;gnomADv4_1_AN_joint=151912;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6552;gnomADv4_1_nhomalt_joint_XX=3385;gnomADv4_1_nhomalt_joint_XY=3167;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27183188 chr22_27183188_C_A C A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.127;CADD_Rawscore=-0.546344;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-12325G>T|||||||rs8137134||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27183188C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.247+3042G>T|||||||rs8137134||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27183188C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+3042G>T|||||||rs8137134||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27183188C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||||||||||rs8137134|1326|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27183188C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs8137134|4332|1||||||||||||Ensembl||C|C||||chr22:g.27183188C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs8137134|4332|1||||||||||||Ensembl||C|C||||chr22:g.27183188C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs8137134|4332|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27183188C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41780;gnomADv4_1_AC_joint_XX=21882;gnomADv4_1_AC_joint_XY=19898;gnomADv4_1_AF_grpmax_joint=0.359955;gnomADv4_1_AF_joint=0.275325;gnomADv4_1_AF_joint_XX=0.282065;gnomADv4_1_AF_joint_XY=0.268276;gnomADv4_1_AN_grpmax_joint=41358;gnomADv4_1_AN_joint=151748;gnomADv4_1_AN_joint_XX=77578;gnomADv4_1_AN_joint_XY=74170;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6216;gnomADv4_1_nhomalt_joint_XX=3200;gnomADv4_1_nhomalt_joint_XY=3016;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27185018 chr22_27185018_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=2.18;CADD_Rawscore=0.186862;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-14155C>T|||||||rs12329959||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27185018G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.247+1212C>T|||||||rs12329959||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27185018G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+1212C>T|||||||rs12329959||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27185018G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||2/2|ENST00000805087.1:n.247-172C>T|||||||rs12329959||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27185018G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs12329959|2502|1||||||||||||Ensembl||G|G||||chr22:g.27185018G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs12329959|2502|1||||||||||||Ensembl||G|G||||chr22:g.27185018G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs12329959|2502|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27185018G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8254;gnomADv4_1_AC_joint_XX=4281;gnomADv4_1_AC_joint_XY=3973;gnomADv4_1_AF_grpmax_joint=0.0813387;gnomADv4_1_AF_joint=0.0576477;gnomADv4_1_AF_joint_XX=0.0578999;gnomADv4_1_AF_joint_XY=0.0573785;gnomADv4_1_AN_grpmax_joint=39022;gnomADv4_1_AN_joint=143180;gnomADv4_1_AN_joint_XX=73938;gnomADv4_1_AN_joint_XY=69242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=256;gnomADv4_1_nhomalt_joint_XX=127;gnomADv4_1_nhomalt_joint_XY=129;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27185177 chr22_27185177_CATAT_C;chr22_27185177_C_CATATATATATAT;chr22_27185177_C_CATATATATAT CATAT C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=1.014;CADDIndel_Rawscore=-0.014341;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-14318_355-14315del|||||||rs10671816||-1||HGNC|HGNC:52425|||||||||Ensembl||ATAT|ATAT||||chr22:g.27185194_27185197del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.247+1049_247+1052del|||||||rs10671816||-1||HGNC|HGNC:52425|||||||||Ensembl||ATAT|ATAT||||chr22:g.27185194_27185197del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+1049_246+1052del|||||||rs10671816||-1||HGNC|HGNC:52425|||||||||Ensembl||ATAT|ATAT||||chr22:g.27185194_27185197del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||2/2|ENST00000805087.1:n.247-335_247-332del|||||||rs10671816||-1||HGNC|HGNC:52425|||||||||Ensembl||ATAT|ATAT||||chr22:g.27185194_27185197del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs10671816|2339|1||||||||||||Ensembl||ATAT|ATAT||||chr22:g.27185194_27185197del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs10671816|2339|1||||||||||||Ensembl||ATAT|ATAT||||chr22:g.27185194_27185197del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs10671816|2339|1||EntrezGene||||||||||RefSeq||ATAT|ATAT||||chr22:g.27185194_27185197del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15752;gnomADv4_1_AC_joint_XX=8288;gnomADv4_1_AC_joint_XY=7464;gnomADv4_1_AF_grpmax_joint=0.262459;gnomADv4_1_AF_joint=0.111033;gnomADv4_1_AF_joint_XX=0.112639;gnomADv4_1_AF_joint_XY=0.109302;gnomADv4_1_AN_grpmax_joint=38806;gnomADv4_1_AN_joint=141868;gnomADv4_1_AN_joint_XX=73580;gnomADv4_1_AN_joint_XY=68288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1549;gnomADv4_1_nhomalt_joint_XX=809;gnomADv4_1_nhomalt_joint_XY=740;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27185177 chr22_27185177_CATAT_C;chr22_27185177_C_CATATATATATAT;chr22_27185177_C_CATATATATAT C CATATATATATAT 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.267;CADDIndel_Rawscore=-0.351528;CSQ=ATATATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-14326_355-14315dup|||||||rs10671816||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27185186_27185197dup|||||||||||||,ATATATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.247+1041_247+1052dup|||||||rs10671816||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27185186_27185197dup|||||||||||||,ATATATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+1041_246+1052dup|||||||rs10671816||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27185186_27185197dup|||||||||||||,ATATATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||2/2|ENST00000805087.1:n.247-343_247-332dup|||||||rs10671816||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27185186_27185197dup|||||||||||||,ATATATATATAT|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs10671816|2342|1||||||||||||Ensembl|||||||chr22:g.27185186_27185197dup|||||||||||||,ATATATATATAT|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs10671816|2342|1||||||||||||Ensembl|||||||chr22:g.27185186_27185197dup|||||||||||||,ATATATATATAT|upstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs10671816|2342|1||EntrezGene||||||||||RefSeq|||||||chr22:g.27185186_27185197dup|||||||||||||;TYPE=INDEL;VEP_Allele=ATATATATATAT,ATATATATATAT,ATATATATATAT,ATATATATATAT,ATATATATATAT,ATATATATATAT,ATATATATATAT;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6110;gnomADv4_1_AC_joint_XX=3166;gnomADv4_1_AC_joint_XY=2944;gnomADv4_1_AF_grpmax_joint=0.0637306;gnomADv4_1_AF_joint=0.0431071;gnomADv4_1_AF_joint_XX=0.0430701;gnomADv4_1_AF_joint_XY=0.0431469;gnomADv4_1_AN_grpmax_joint=65620;gnomADv4_1_AN_joint=141740;gnomADv4_1_AN_joint_XX=73508;gnomADv4_1_AN_joint_XY=68232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=188;gnomADv4_1_nhomalt_joint_XX=103;gnomADv4_1_nhomalt_joint_XY=85;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27185177 chr22_27185177_CATAT_C;chr22_27185177_C_CATATATATATAT;chr22_27185177_C_CATATATATAT C CATATATATAT 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADDIndel_PHREDscore=0.277;CADDIndel_Rawscore=-0.34237;CSQ=ATATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-14324_355-14315dup|||||||rs10671816||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27185188_27185197dup|||||||||||||,ATATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.247+1043_247+1052dup|||||||rs10671816||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27185188_27185197dup|||||||||||||,ATATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+1043_246+1052dup|||||||rs10671816||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27185188_27185197dup|||||||||||||,ATATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||2/2|ENST00000805087.1:n.247-341_247-332dup|||||||rs10671816||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27185188_27185197dup|||||||||||||,ATATATATAT|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs10671816|2342|1||||||||||||Ensembl|||||||chr22:g.27185188_27185197dup|||||||||||||,ATATATATAT|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs10671816|2342|1||||||||||||Ensembl|||||||chr22:g.27185188_27185197dup|||||||||||||,ATATATATAT|upstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs10671816|2342|1||EntrezGene||||||||||RefSeq|||||||chr22:g.27185188_27185197dup|||||||||||||;TYPE=INDEL;VEP_Allele=ATATATATAT,ATATATATAT,ATATATATAT,ATATATATAT,ATATATATAT,ATATATATAT,ATATATATAT;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17883;gnomADv4_1_AC_joint_XX=9685;gnomADv4_1_AC_joint_XY=8198;gnomADv4_1_AF_grpmax_joint=0.189689;gnomADv4_1_AF_joint=0.126291;gnomADv4_1_AF_joint_XX=0.131866;gnomADv4_1_AF_joint_XY=0.120283;gnomADv4_1_AN_grpmax_joint=65560;gnomADv4_1_AN_joint=141602;gnomADv4_1_AN_joint_XX=73446;gnomADv4_1_AN_joint_XY=68156;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1457;gnomADv4_1_nhomalt_joint_XX=828;gnomADv4_1_nhomalt_joint_XY=629;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27185445 chr22_27185445_GATGA_G;chr22_27185445_G_GATGA GATGA G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=6.723;CADDIndel_Rawscore=0.628333;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-14586_355-14583del|||||||rs10585534||-1||HGNC|HGNC:52425|||||||||Ensembl||ATGA|ATGA||||chr22:g.27185477_27185480del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.247+781_247+784del|||||||rs10585534||-1||HGNC|HGNC:52425|||||||||Ensembl||ATGA|ATGA||||chr22:g.27185477_27185480del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+781_246+784del|||||||rs10585534||-1||HGNC|HGNC:52425|||||||||Ensembl||ATGA|ATGA||||chr22:g.27185477_27185480del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||2/2|ENST00000805087.1:n.247-603_247-600del|||||||rs10585534||-1||HGNC|HGNC:52425|||||||||Ensembl||ATGA|ATGA||||chr22:g.27185477_27185480del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs10585534|2071|1||||||||||||Ensembl||ATGA|ATGA||||chr22:g.27185477_27185480del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs10585534|2071|1||||||||||||Ensembl||ATGA|ATGA||||chr22:g.27185477_27185480del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs10585534|2071|1||EntrezGene||||||||||RefSeq||ATGA|ATGA||||chr22:g.27185477_27185480del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=113756;gnomADv4_1_AC_joint_XX=59198;gnomADv4_1_AC_joint_XY=54558;gnomADv4_1_AF_grpmax_joint=0.899306;gnomADv4_1_AF_joint=0.757707;gnomADv4_1_AF_joint_XX=0.770085;gnomADv4_1_AF_joint_XY=0.744717;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=150132;gnomADv4_1_AN_joint_XX=76872;gnomADv4_1_AN_joint_XY=73260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=43685;gnomADv4_1_nhomalt_joint_XX=23077;gnomADv4_1_nhomalt_joint_XY=20608;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27185445 chr22_27185445_GATGA_G;chr22_27185445_G_GATGA G GATGA 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=5.738;CADDIndel_Rawscore=0.527;CSQ=ATGA|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-14586_355-14583dup|||||||rs10585534||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27185477_27185480dup|||||||||||||,ATGA|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.247+781_247+784dup|||||||rs10585534||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27185477_27185480dup|||||||||||||,ATGA|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+781_246+784dup|||||||rs10585534||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27185477_27185480dup|||||||||||||,ATGA|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||2/2|ENST00000805087.1:n.247-603_247-600dup|||||||rs10585534||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27185477_27185480dup|||||||||||||,ATGA|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs10585534|2074|1||||||||||||Ensembl|||||||chr22:g.27185477_27185480dup|||||||||||||,ATGA|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs10585534|2074|1||||||||||||Ensembl|||||||chr22:g.27185477_27185480dup|||||||||||||,ATGA|upstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs10585534|2074|1||EntrezGene||||||||||RefSeq|||||||chr22:g.27185477_27185480dup|||||||||||||;TYPE=INDEL;VEP_Allele=ATGA,ATGA,ATGA,ATGA,ATGA,ATGA,ATGA;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4451;gnomADv4_1_AC_joint_XX=2236;gnomADv4_1_AC_joint_XY=2215;gnomADv4_1_AF_grpmax_joint=0.0419608;gnomADv4_1_AF_joint=0.0296287;gnomADv4_1_AF_joint_XX=0.0290722;gnomADv4_1_AF_joint_XY=0.0302125;gnomADv4_1_AN_grpmax_joint=5100;gnomADv4_1_AN_joint=150226;gnomADv4_1_AN_joint_XX=76912;gnomADv4_1_AN_joint_XY=73314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=71;gnomADv4_1_nhomalt_joint_XX=31;gnomADv4_1_nhomalt_joint_XY=40;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27185680 chr22_27185680_C_T C T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.277;CADD_Rawscore=-0.342611;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-14817G>A|||||||rs738217||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27185680C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.247+550G>A|||||||rs738217||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27185680C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+550G>A|||||||rs738217||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27185680C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||2/2|ENST00000805087.1:n.246+550G>A|||||||rs738217||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27185680C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs738217|1840|1||||||||||||Ensembl||C|C||||chr22:g.27185680C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs738217|1840|1||||||||||||Ensembl||C|C||||chr22:g.27185680C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs738217|1840|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27185680C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71152;gnomADv4_1_AC_joint_XX=36719;gnomADv4_1_AC_joint_XY=34433;gnomADv4_1_AF_grpmax_joint=0.531868;gnomADv4_1_AF_joint=0.468753;gnomADv4_1_AF_joint_XX=0.473098;gnomADv4_1_AF_joint_XY=0.464207;gnomADv4_1_AN_grpmax_joint=67906;gnomADv4_1_AN_joint=151790;gnomADv4_1_AN_joint_XX=77614;gnomADv4_1_AN_joint_XY=74176;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=17128;gnomADv4_1_nhomalt_joint_XX=8881;gnomADv4_1_nhomalt_joint_XY=8247;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27186138 chr22_27186138_C_A C A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.637;CADD_Rawscore=-0.132631;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-15275G>T|||||||rs490328||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27186138C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||2/3|ENST00000805084.1:n.247+92G>T|||||||rs490328||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27186138C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||2/2|ENST00000805085.1:n.246+92G>T|||||||rs490328||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27186138C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||2/2|ENST00000805087.1:n.246+92G>T|||||||rs490328||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27186138C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs490328|1382|1||||||||||||Ensembl||C|C||||chr22:g.27186138C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs490328|1382|1||||||||||||Ensembl||C|C||||chr22:g.27186138C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs490328|1382|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27186138C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=125482;gnomADv4_1_AC_joint_XX=65190;gnomADv4_1_AC_joint_XY=60292;gnomADv4_1_AF_grpmax_joint=0.949302;gnomADv4_1_AF_joint=0.824877;gnomADv4_1_AF_joint_XX=0.838198;gnomADv4_1_AF_joint_XY=0.810943;gnomADv4_1_AN_grpmax_joint=41540;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=52970;gnomADv4_1_nhomalt_joint_XX=27887;gnomADv4_1_nhomalt_joint_XY=25083;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27186475 chr22_27186475_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.62;CADD_Rawscore=-0.139173;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-15612C>T|||||||rs76548543||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27186475G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||1/3|ENST00000805084.1:n.41-39C>T|||||||rs76548543||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27186475G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||1/2|ENST00000805085.1:n.40-39C>T|||||||rs76548543||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27186475G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||1/2|ENST00000805087.1:n.40-39C>T|||||||rs76548543||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27186475G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs76548543|1045|1||||||||||||Ensembl||G|G||||chr22:g.27186475G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs76548543|1045|1||||||||||||Ensembl||G|G||||chr22:g.27186475G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs76548543|1045|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27186475G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6455;gnomADv4_1_AC_joint_XX=3351;gnomADv4_1_AC_joint_XY=3104;gnomADv4_1_AF_grpmax_joint=0.0657793;gnomADv4_1_AF_joint=0.0423885;gnomADv4_1_AF_joint_XX=0.0430609;gnomADv4_1_AF_joint_XY=0.0416857;gnomADv4_1_AN_grpmax_joint=41548;gnomADv4_1_AN_joint=152282;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=166;gnomADv4_1_nhomalt_joint_XX=82;gnomADv4_1_nhomalt_joint_XY=84;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27187039 chr22_27187039_G_A G A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.873;CADD_Rawscore=-0.052927;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-16176C>T|||||||rs529092531||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27187039G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||1/3|ENST00000805084.1:n.40+292C>T|||||||rs529092531||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27187039G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||1/2|ENST00000805085.1:n.39+292C>T|||||||rs529092531||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27187039G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||1/2|ENST00000805087.1:n.39+292C>T|||||||rs529092531||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27187039G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs529092531|481|1||||||||||||Ensembl||G|G||||chr22:g.27187039G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs529092531|481|1||||||||||||Ensembl||G|G||||chr22:g.27187039G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs529092531|481|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27187039G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=327;gnomADv4_1_AC_joint_XX=151;gnomADv4_1_AC_joint_XY=176;gnomADv4_1_AF_grpmax_joint=0.00914001;gnomADv4_1_AF_joint=0.00214886;gnomADv4_1_AF_joint_XX=0.00194127;gnomADv4_1_AF_joint_XY=0.00236591;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152174;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27187224 chr22_27187224_A_AT;chr22_27187224_A_ATTT A AT 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADDIndel_PHREDscore=2.184;CADDIndel_Rawscore=0.187287;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-16362dup|||||||rs11452062||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27187249dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||1/3|ENST00000805084.1:n.40+106dup|||||||rs11452062||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27187249dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||1/2|ENST00000805085.1:n.39+106dup|||||||rs11452062||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27187249dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||1/2|ENST00000805087.1:n.39+106dup|||||||rs11452062||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27187249dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs11452062|295|1||||||||||||Ensembl|||||||chr22:g.27187249dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs11452062|295|1||||||||||||Ensembl|||||||chr22:g.27187249dup|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs11452062|295|1||EntrezGene||||||||||RefSeq|||||||chr22:g.27187249dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7964;gnomADv4_1_AC_joint_XX=4380;gnomADv4_1_AC_joint_XY=3584;gnomADv4_1_AF_grpmax_joint=0.236556;gnomADv4_1_AF_joint=0.104972;gnomADv4_1_AF_joint_XX=0.104043;gnomADv4_1_AF_joint_XY=0.10613;gnomADv4_1_AN_grpmax_joint=18930;gnomADv4_1_AN_joint=75868;gnomADv4_1_AN_joint_XX=42098;gnomADv4_1_AN_joint_XY=33770;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=920;gnomADv4_1_nhomalt_joint_XX=487;gnomADv4_1_nhomalt_joint_XY=433;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27187224 chr22_27187224_A_AT;chr22_27187224_A_ATTT A ATTT 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=10;CADDIndel_PHREDscore=2.174;CADDIndel_Rawscore=0.186095;CSQ=TTT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-16364_355-16362dup|||||||rs11452062||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27187247_27187249dup|||||||||||||,TTT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||1/3|ENST00000805084.1:n.40+104_40+106dup|||||||rs11452062||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27187247_27187249dup|||||||||||||,TTT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||1/2|ENST00000805085.1:n.39+104_39+106dup|||||||rs11452062||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27187247_27187249dup|||||||||||||,TTT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||1/2|ENST00000805087.1:n.39+104_39+106dup|||||||rs11452062||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27187247_27187249dup|||||||||||||,TTT|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs11452062|295|1||||||||||||Ensembl|||||||chr22:g.27187247_27187249dup|||||||||||||,TTT|upstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs11452062|295|1||||||||||||Ensembl|||||||chr22:g.27187247_27187249dup|||||||||||||,TTT|upstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs11452062|295|1||EntrezGene||||||||||RefSeq|||||||chr22:g.27187247_27187249dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTT,TTT,TTT,TTT,TTT,TTT,TTT;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25681;gnomADv4_1_AC_joint_XX=14694;gnomADv4_1_AC_joint_XY=10987;gnomADv4_1_AF_grpmax_joint=0.440182;gnomADv4_1_AF_joint=0.338621;gnomADv4_1_AF_joint_XX=0.34901;gnomADv4_1_AF_joint_XY=0.325657;gnomADv4_1_AN_grpmax_joint=41760;gnomADv4_1_AN_joint=75840;gnomADv4_1_AN_joint_XX=42102;gnomADv4_1_AN_joint_XY=33738;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5584;gnomADv4_1_nhomalt_joint_XX=3252;gnomADv4_1_nhomalt_joint_XY=2332;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27187690 chr22_27187690_A_G A G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.618;CADD_Rawscore=-0.140014;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-16827T>C|||||||rs537488||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27187690A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||||||||||rs537488|320|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27187690A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||||||||||rs537488|321|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27187690A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||||||||||rs537488|321|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27187690A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||1/2|ENST00000805435.1:n.78+93A>G|||||||rs537488||1||||||||||||Ensembl||A|A||||chr22:g.27187690A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||1/2|ENST00000805436.1:n.78+93A>G|||||||rs537488||1||||||||||||Ensembl||A|A||||chr22:g.27187690A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||1/2|NR_171770.1:n.78+93A>G|||||||rs537488||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27187690A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118485;gnomADv4_1_AC_joint_XX=61708;gnomADv4_1_AC_joint_XY=56777;gnomADv4_1_AF_grpmax_joint=0.897685;gnomADv4_1_AF_joint=0.797363;gnomADv4_1_AF_joint_XX=0.807063;gnomADv4_1_AF_joint_XY=0.787083;gnomADv4_1_AN_grpmax_joint=40610;gnomADv4_1_AN_joint=148596;gnomADv4_1_AN_joint_XX=76460;gnomADv4_1_AN_joint_XY=72136;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=47980;gnomADv4_1_nhomalt_joint_XX=25292;gnomADv4_1_nhomalt_joint_XY=22688;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27187840 chr22_27187840_AT_A AT A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=0.138;CADDIndel_Rawscore=-0.525419;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-16978del|||||||rs11290368||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27187851del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||||||||||rs11290368|471|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27187851del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||||||||||rs11290368|472|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27187851del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||||||||||rs11290368|472|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27187851del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||1/2|ENST00000805435.1:n.78+254del|||||||rs11290368||1||||||||||||Ensembl||T|T|||10|chr22:g.27187851del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||1/2|ENST00000805436.1:n.78+254del|||||||rs11290368||1||||||||||||Ensembl||T|T|||10|chr22:g.27187851del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||1/2|NR_171770.1:n.78+254del|||||||rs11290368||1||EntrezGene||||||||||RefSeq||T|T|||10|chr22:g.27187851del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=114140;gnomADv4_1_AC_joint_XX=59365;gnomADv4_1_AC_joint_XY=54775;gnomADv4_1_AF_grpmax_joint=0.835616;gnomADv4_1_AF_joint=0.763315;gnomADv4_1_AF_joint_XX=0.773324;gnomADv4_1_AF_joint_XY=0.752755;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=149532;gnomADv4_1_AN_joint_XX=76766;gnomADv4_1_AN_joint_XY=72766;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=44164;gnomADv4_1_nhomalt_joint_XX=23245;gnomADv4_1_nhomalt_joint_XY=20919;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27187961 chr22_27187961_C_T C T 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.263;CADD_Rawscore=0.043072;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-17098G>A|||||||rs8135373||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27187961C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||||||||||rs8135373|591|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27187961C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||||||||||rs8135373|592|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27187961C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||||||||||rs8135373|592|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27187961C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||1/2|ENST00000805435.1:n.78+364C>T|||||||rs8135373||1||||||||||||Ensembl||C|C||||chr22:g.27187961C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||1/2|ENST00000805436.1:n.78+364C>T|||||||rs8135373||1||||||||||||Ensembl||C|C||||chr22:g.27187961C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||1/2|NR_171770.1:n.78+364C>T|||||||rs8135373||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27187961C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80793;gnomADv4_1_AC_joint_XX=41737;gnomADv4_1_AC_joint_XY=39056;gnomADv4_1_AF_grpmax_joint=0.566315;gnomADv4_1_AF_joint=0.531687;gnomADv4_1_AF_joint_XX=0.537239;gnomADv4_1_AF_joint_XY=0.525879;gnomADv4_1_AN_grpmax_joint=67948;gnomADv4_1_AN_joint=151956;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=22038;gnomADv4_1_nhomalt_joint_XX=11444;gnomADv4_1_nhomalt_joint_XY=10594;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27188354 chr22_27188354_G_A G A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.008;CADD_Rawscore=0.164921;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-17491C>T|||||||rs510197||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27188354G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||||||||||rs510197|984|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27188354G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||||||||||rs510197|985|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27188354G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||||||||||rs510197|985|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27188354G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||1/2|ENST00000805435.1:n.79-130G>A|||||||rs510197||1||||||||||||Ensembl||G|G||||chr22:g.27188354G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA|2/3||ENST00000805436.1:n.106G>A||106|||||rs510197||1||||||||||||Ensembl||G|G||||chr22:g.27188354G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||1/2|NR_171770.1:n.79-130G>A|||||||rs510197||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27188354G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=117276;gnomADv4_1_AC_joint_XX=60843;gnomADv4_1_AC_joint_XY=56433;gnomADv4_1_AF_grpmax_joint=0.829932;gnomADv4_1_AF_joint=0.771147;gnomADv4_1_AF_joint_XX=0.782506;gnomADv4_1_AF_joint_XY=0.759263;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=46107;gnomADv4_1_nhomalt_joint_XX=24212;gnomADv4_1_nhomalt_joint_XY=21895;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27188632 chr22_27188632_C_G C G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.11;CADD_Rawscore=-0.585462;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-17769G>C|||||||rs9941926||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27188632C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||||||||||rs9941926|1262|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27188632C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||||||||||rs9941926|1263|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27188632C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||||||||||rs9941926|1263|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27188632C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||2/2|ENST00000805435.1:n.129+98C>G|||||||rs9941926||1||||||||||||Ensembl||C|C||||chr22:g.27188632C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||2/2|ENST00000805436.1:n.286+98C>G|||||||rs9941926||1||||||||||||Ensembl||C|C||||chr22:g.27188632C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||2/2|NR_171770.1:n.129+98C>G|||||||rs9941926||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27188632C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72585;gnomADv4_1_AC_joint_XX=37461;gnomADv4_1_AC_joint_XY=35124;gnomADv4_1_AF_grpmax_joint=0.550118;gnomADv4_1_AF_joint=0.477338;gnomADv4_1_AF_joint_XX=0.481913;gnomADv4_1_AF_joint_XY=0.472554;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=18065;gnomADv4_1_nhomalt_joint_XX=9377;gnomADv4_1_nhomalt_joint_XY=8688;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27188718 chr22_27188718_G_A G A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.981;CADD_Rawscore=0.363581;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-17855C>T|||||||rs9306437||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27188718G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||||||||||rs9306437|1348|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27188718G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||||||||||rs9306437|1349|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27188718G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||||||||||rs9306437|1349|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27188718G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||2/2|ENST00000805435.1:n.130-146G>A|||||||rs9306437||1||||||||||||Ensembl||G|G||||chr22:g.27188718G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||2/2|ENST00000805436.1:n.287-146G>A|||||||rs9306437||1||||||||||||Ensembl||G|G||||chr22:g.27188718G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||2/2|NR_171770.1:n.130-146G>A|||||||rs9306437||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27188718G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80793;gnomADv4_1_AC_joint_XX=41731;gnomADv4_1_AC_joint_XY=39062;gnomADv4_1_AF_grpmax_joint=0.566298;gnomADv4_1_AF_joint=0.531267;gnomADv4_1_AF_joint_XX=0.536982;gnomADv4_1_AF_joint_XY=0.525295;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=22022;gnomADv4_1_nhomalt_joint_XX=11434;gnomADv4_1_nhomalt_joint_XY=10588;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27189748 chr22_27189748_G_A G A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=5.513;CADD_Rawscore=0.504846;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-18885C>T|||||||rs11090478||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27189748G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||||||||||rs11090478|2378|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27189748G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||||||||||rs11090478|2379|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27189748G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||||||||||rs11090478|2379|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27189748G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs11090478|532|1||||||||||||Ensembl||G|G||||chr22:g.27189748G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs11090478|532|1||||||||||||Ensembl||G|G||||chr22:g.27189748G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs11090478|533|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27189748G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80789;gnomADv4_1_AC_joint_XX=41742;gnomADv4_1_AC_joint_XY=39047;gnomADv4_1_AF_grpmax_joint=0.566226;gnomADv4_1_AF_joint=0.531451;gnomADv4_1_AF_joint_XX=0.537137;gnomADv4_1_AF_joint_XY=0.525503;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=152016;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=22018;gnomADv4_1_nhomalt_joint_XX=11441;gnomADv4_1_nhomalt_joint_XY=10577;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27190718 chr22_27190718_C_T C T 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.074;CADD_Rawscore=-0.692723;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-19855G>A|||||||rs2342399||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27190718C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||||||||||rs2342399|3348|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27190718C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||||||||||rs2342399|3349|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27190718C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||||||||||rs2342399|3349|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27190718C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs2342399|4514|1||||||||||||Ensembl||C|C||||chr22:g.27190718C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs2342399|1502|1||||||||||||Ensembl||C|C||||chr22:g.27190718C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs2342399|1502|1||||||||||||Ensembl||C|C||||chr22:g.27190718C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs2342399|1503|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27190718C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805267,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000238195,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80794;gnomADv4_1_AC_joint_XX=41746;gnomADv4_1_AC_joint_XY=39048;gnomADv4_1_AF_grpmax_joint=0.566344;gnomADv4_1_AF_joint=0.531679;gnomADv4_1_AF_joint_XX=0.537189;gnomADv4_1_AF_joint_XY=0.525913;gnomADv4_1_AN_grpmax_joint=67934;gnomADv4_1_AN_joint=151960;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=22026;gnomADv4_1_nhomalt_joint_XX=11441;gnomADv4_1_nhomalt_joint_XY=10585;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27190992 chr22_27190992_G_A G A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=5.291;CADD_Rawscore=0.483416;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-20129C>T|||||||rs2342400||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27190992G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||||||||||rs2342400|3622|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27190992G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||||||||||rs2342400|3623|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27190992G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||||||||||rs2342400|3623|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27190992G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs2342400|4240|1||||||||||||Ensembl||G|G||||chr22:g.27190992G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs2342400|1776|1||||||||||||Ensembl||G|G||||chr22:g.27190992G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs2342400|1776|1||||||||||||Ensembl||G|G||||chr22:g.27190992G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs2342400|1777|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27190992G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805267,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000238195,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80836;gnomADv4_1_AC_joint_XX=41753;gnomADv4_1_AC_joint_XY=39083;gnomADv4_1_AF_grpmax_joint=0.566232;gnomADv4_1_AF_joint=0.531515;gnomADv4_1_AF_joint_XX=0.537071;gnomADv4_1_AF_joint_XY=0.525705;gnomADv4_1_AN_grpmax_joint=67988;gnomADv4_1_AN_joint=152086;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=22036;gnomADv4_1_nhomalt_joint_XX=11440;gnomADv4_1_nhomalt_joint_XY=10596;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27191039 chr22_27191039_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=12.74;CADD_Rawscore=1.27641;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-20176T>C|||||||rs2342401||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27191039A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||||||||||rs2342401|3669|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27191039A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||||||||||rs2342401|3670|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27191039A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||||||||||rs2342401|3670|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27191039A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs2342401|4193|1||||||||||||Ensembl||A|A||||chr22:g.27191039A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs2342401|1823|1||||||||||||Ensembl||A|A||||chr22:g.27191039A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs2342401|1823|1||||||||||||Ensembl||A|A||||chr22:g.27191039A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs2342401|1824|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27191039A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805267,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000238195,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78666;gnomADv4_1_AC_joint_XX=40649;gnomADv4_1_AC_joint_XY=38017;gnomADv4_1_AF_grpmax_joint=0.551021;gnomADv4_1_AF_joint=0.517199;gnomADv4_1_AF_joint_XX=0.522844;gnomADv4_1_AF_joint_XY=0.511297;gnomADv4_1_AN_grpmax_joint=67972;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=20882;gnomADv4_1_nhomalt_joint_XX=10844;gnomADv4_1_nhomalt_joint_XY=10038;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27191359 chr22_27191359_C_T C T 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=6.856;CADD_Rawscore=0.642525;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.355-20496G>A|||||||rs62223816||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27191359C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805084|lncRNA||||||||||rs62223816|3989|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27191359C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805085|lncRNA||||||||||rs62223816|3990|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27191359C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805087|lncRNA||||||||||rs62223816|3990|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27191359C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs62223816|3873|1||||||||||||Ensembl||C|C||||chr22:g.27191359C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs62223816|2143|1||||||||||||Ensembl||C|C||||chr22:g.27191359C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs62223816|2143|1||||||||||||Ensembl||C|C||||chr22:g.27191359C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs62223816|2144|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27191359C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000805083,ENST00000805084,ENST00000805085,ENST00000805087,ENST00000805267,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000238195,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,.,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3804;gnomADv4_1_AC_joint_XX=1929;gnomADv4_1_AC_joint_XY=1875;gnomADv4_1_AF_grpmax_joint=0.0406133;gnomADv4_1_AF_joint=0.0249882;gnomADv4_1_AF_joint_XX=0.0247912;gnomADv4_1_AF_joint_XY=0.0251942;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152232;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=63;gnomADv4_1_nhomalt_joint_XX=29;gnomADv4_1_nhomalt_joint_XY=34;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27192794 chr22_27192794_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.243;CADD_Rawscore=-0.376757;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+20219G>A|||||||rs62223817||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27192794C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs62223817|2438|1||||||||||||Ensembl||C|C||||chr22:g.27192794C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||||||||||rs62223817|4030|1||||||||||||Ensembl||C|C||||chr22:g.27192794C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||||||||||rs62223817|4038|1||||||||||||Ensembl||C|C||||chr22:g.27192794C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs62223817|4326|1||||||||||||Ensembl||C|C||||chr22:g.27192794C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs62223817|4120|1||||||||||||Ensembl||C|C||||chr22:g.27192794C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs62223817|3578|1||||||||||||Ensembl||C|C||||chr22:g.27192794C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs62223817|3578|1||||||||||||Ensembl||C|C||||chr22:g.27192794C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs62223817|3579|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27192794C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,.,.,.,.,.,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4006;gnomADv4_1_AC_joint_XX=2056;gnomADv4_1_AC_joint_XY=1950;gnomADv4_1_AF_grpmax_joint=0.0372347;gnomADv4_1_AF_joint=0.0263002;gnomADv4_1_AF_joint_XX=0.0264132;gnomADv4_1_AF_joint_XY=0.0261822;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152318;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=62;gnomADv4_1_nhomalt_joint_XX=29;gnomADv4_1_nhomalt_joint_XY=33;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27193289 chr22_27193289_C_A C A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.452;CADD_Rawscore=0.079531;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+19724G>T|||||||rs79603358||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27193289C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs79603358|1943|1||||||||||||Ensembl||C|C||||chr22:g.27193289C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||||||||||rs79603358|3535|1||||||||||||Ensembl||C|C||||chr22:g.27193289C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||||||||||rs79603358|3543|1||||||||||||Ensembl||C|C||||chr22:g.27193289C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs79603358|3831|1||||||||||||Ensembl||C|C||||chr22:g.27193289C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs79603358|3625|1||||||||||||Ensembl||C|C||||chr22:g.27193289C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805435|lncRNA||||||||||rs79603358|4073|1||||||||||||Ensembl||C|C||||chr22:g.27193289C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000304686|Transcript|ENST00000805436|lncRNA||||||||||rs79603358|4073|1||||||||||||Ensembl||C|C||||chr22:g.27193289C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC105372977|105372977|Transcript|NR_171770.1|lncRNA||||||||||rs79603358|4074|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27193289C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271,ENST00000805435,ENST00000805436,NR_171770.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000304686,ENSG00000304686,105372977;VEP_SYMBOL=LINC01638,.,.,.,.,.,.,.,LOC105372977;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3825;gnomADv4_1_AC_joint_XX=1943;gnomADv4_1_AC_joint_XY=1882;gnomADv4_1_AF_grpmax_joint=0.0373599;gnomADv4_1_AF_joint=0.0251238;gnomADv4_1_AF_joint_XX=0.024973;gnomADv4_1_AF_joint_XY=0.0252814;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152246;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=60;gnomADv4_1_nhomalt_joint_XX=29;gnomADv4_1_nhomalt_joint_XY=31;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27194230 chr22_27194230_C_T C T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.738;CADD_Rawscore=-0.09565;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+18783G>A|||||||rs62223818||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27194230C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs62223818|1002|1||||||||||||Ensembl||C|C||||chr22:g.27194230C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||||||||||rs62223818|2594|1||||||||||||Ensembl||C|C||||chr22:g.27194230C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||||||||||rs62223818|2602|1||||||||||||Ensembl||C|C||||chr22:g.27194230C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs62223818|2890|1||||||||||||Ensembl||C|C||||chr22:g.27194230C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs62223818|2684|1||||||||||||Ensembl||C|C||||chr22:g.27194230C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=LINC01638,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=5183;gnomADv4_1_AC_joint_XX=2695;gnomADv4_1_AC_joint_XY=2488;gnomADv4_1_AF_grpmax_joint=0.0378598;gnomADv4_1_AF_joint=0.0340418;gnomADv4_1_AF_joint_XX=0.0346312;gnomADv4_1_AF_joint_XY=0.0334256;gnomADv4_1_AN_grpmax_joint=41548;gnomADv4_1_AN_joint=152254;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=82;gnomADv4_1_nhomalt_joint_XX=44;gnomADv4_1_nhomalt_joint_XY=38;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27194378 chr22_27194378_T_C T C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.196;CADD_Rawscore=-0.432707;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+18635A>G|||||||rs491735||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27194378T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs491735|854|1||||||||||||Ensembl||T|T||||chr22:g.27194378T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||||||||||rs491735|2446|1||||||||||||Ensembl||T|T||||chr22:g.27194378T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||||||||||rs491735|2454|1||||||||||||Ensembl||T|T||||chr22:g.27194378T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs491735|2742|1||||||||||||Ensembl||T|T||||chr22:g.27194378T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs491735|2536|1||||||||||||Ensembl||T|T||||chr22:g.27194378T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=LINC01638,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=61628;gnomADv4_1_AC_joint_XX=32022;gnomADv4_1_AC_joint_XY=29606;gnomADv4_1_AF_grpmax_joint=0.563256;gnomADv4_1_AF_joint=0.405064;gnomADv4_1_AF_joint_XX=0.411837;gnomADv4_1_AF_joint_XY=0.397984;gnomADv4_1_AN_grpmax_joint=41482;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=13436;gnomADv4_1_nhomalt_joint_XX=6998;gnomADv4_1_nhomalt_joint_XY=6438;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27194716 chr22_27194716_G_A G A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.144;CADD_Rawscore=-0.513316;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+18297C>T|||||||rs494604||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27194716G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs494604|516|1||||||||||||Ensembl||G|G||||chr22:g.27194716G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||||||||||rs494604|2108|1||||||||||||Ensembl||G|G||||chr22:g.27194716G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||||||||||rs494604|2116|1||||||||||||Ensembl||G|G||||chr22:g.27194716G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs494604|2404|1||||||||||||Ensembl||G|G||||chr22:g.27194716G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs494604|2198|1||||||||||||Ensembl||G|G||||chr22:g.27194716G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=LINC01638,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=56651;gnomADv4_1_AC_joint_XX=29396;gnomADv4_1_AC_joint_XY=27255;gnomADv4_1_AF_grpmax_joint=0.453974;gnomADv4_1_AF_joint=0.372959;gnomADv4_1_AF_joint_XX=0.378629;gnomADv4_1_AF_joint_XY=0.367031;gnomADv4_1_AN_grpmax_joint=41368;gnomADv4_1_AN_joint=151896;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=74258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10867;gnomADv4_1_nhomalt_joint_XX=5638;gnomADv4_1_nhomalt_joint_XY=5229;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27194733 chr22_27194733_G_T G T 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=2.275;CADD_Rawscore=0.19824;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+18280C>A|||||||rs62223819||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27194733G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs62223819|499|1||||||||||||Ensembl||G|G||||chr22:g.27194733G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||||||||||rs62223819|2091|1||||||||||||Ensembl||G|G||||chr22:g.27194733G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||||||||||rs62223819|2099|1||||||||||||Ensembl||G|G||||chr22:g.27194733G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs62223819|2387|1||||||||||||Ensembl||G|G||||chr22:g.27194733G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs62223819|2181|1||||||||||||Ensembl||G|G||||chr22:g.27194733G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=LINC01638,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=2601;gnomADv4_1_AC_joint_XX=1299;gnomADv4_1_AC_joint_XY=1302;gnomADv4_1_AF_grpmax_joint=0.0345258;gnomADv4_1_AF_joint=0.0170916;gnomADv4_1_AF_joint_XX=0.0167027;gnomADv4_1_AF_joint_XY=0.0174981;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=31;gnomADv4_1_nhomalt_joint_XX=14;gnomADv4_1_nhomalt_joint_XY=17;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27195427 chr22_27195427_C_A C A 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=7.331;CADD_Rawscore=0.694306;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+17586G>T|||||||rs539740817||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27195427C>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA|1/3||ENST00000805267.1:n.196C>A||196|||||rs539740817||1||||||||||||Ensembl||C|C||||chr22:g.27195427C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||||||||||rs539740817|1397|1||||||||||||Ensembl||C|C||||chr22:g.27195427C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||||||||||rs539740817|1405|1||||||||||||Ensembl||C|C||||chr22:g.27195427C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs539740817|1693|1||||||||||||Ensembl||C|C||||chr22:g.27195427C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs539740817|1487|1||||||||||||Ensembl||C|C||||chr22:g.27195427C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=LINC01638,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=104;gnomADv4_1_AC_joint_XX=49;gnomADv4_1_AC_joint_XY=55;gnomADv4_1_AF_grpmax_joint=0.00071886;gnomADv4_1_AF_joint=0.000683105;gnomADv4_1_AF_joint_XX=0.000629658;gnomADv4_1_AF_joint_XY=0.000738989;gnomADv4_1_AN_grpmax_joint=15302;gnomADv4_1_AN_joint=152246;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27195458 chr22_27195458_G_T G T 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=11.4;CADD_Rawscore=1.10235;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+17555C>A|||||||rs62223820||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27195458G>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA|1/3||ENST00000805267.1:n.227G>T||227|||||rs62223820||1||||||||||||Ensembl||G|G||||chr22:g.27195458G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||||||||||rs62223820|1366|1||||||||||||Ensembl||G|G||||chr22:g.27195458G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||||||||||rs62223820|1374|1||||||||||||Ensembl||G|G||||chr22:g.27195458G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs62223820|1662|1||||||||||||Ensembl||G|G||||chr22:g.27195458G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs62223820|1456|1||||||||||||Ensembl||G|G||||chr22:g.27195458G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=LINC01638,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=2560;gnomADv4_1_AC_joint_XX=1278;gnomADv4_1_AC_joint_XY=1282;gnomADv4_1_AF_grpmax_joint=0.0352054;gnomADv4_1_AF_joint=0.0168094;gnomADv4_1_AF_joint_XX=0.0164196;gnomADv4_1_AF_joint_XY=0.0172168;gnomADv4_1_AN_grpmax_joint=4772;gnomADv4_1_AN_joint=152296;gnomADv4_1_AN_joint_XX=77834;gnomADv4_1_AN_joint_XY=74462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=30;gnomADv4_1_nhomalt_joint_XX=13;gnomADv4_1_nhomalt_joint_XY=17;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27196780 chr22_27196780_G_T G T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.076;CADD_Rawscore=-0.684637;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+16233C>A|||||||rs555860||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27196780G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||1/2|ENST00000805267.1:n.570-149G>T|||||||rs555860||1||||||||||||Ensembl||G|G||||chr22:g.27196780G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||||||||||rs555860|44|1||||||||||||Ensembl||G|G||||chr22:g.27196780G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||||||||||rs555860|52|1||||||||||||Ensembl||G|G||||chr22:g.27196780G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs555860|340|1||||||||||||Ensembl||G|G||||chr22:g.27196780G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs555860|134|1||||||||||||Ensembl||G|G||||chr22:g.27196780G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=LINC01638,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=56561;gnomADv4_1_AC_joint_XX=29400;gnomADv4_1_AC_joint_XY=27161;gnomADv4_1_AF_grpmax_joint=0.484035;gnomADv4_1_AF_joint=0.372161;gnomADv4_1_AF_joint_XX=0.378515;gnomADv4_1_AF_joint_XY=0.365519;gnomADv4_1_AN_grpmax_joint=41402;gnomADv4_1_AN_joint=151980;gnomADv4_1_AN_joint_XX=77672;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11007;gnomADv4_1_nhomalt_joint_XX=5737;gnomADv4_1_nhomalt_joint_XY=5270;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27197006 chr22_27197006_A_G A G 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=3.332;CADD_Rawscore=0.305448;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+16007T>C|||||||rs13055579||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27197006A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA|2/3||ENST00000805267.1:n.647A>G||647|||||rs13055579||1||||||||||||Ensembl||A|A||||chr22:g.27197006A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA|1/2||ENST00000805268.1:n.183A>G||183|||||rs13055579||1||||||||||||Ensembl||A|A||||chr22:g.27197006A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA|1/2||ENST00000805269.1:n.175A>G||175|||||rs13055579||1||||||||||||Ensembl||A|A||||chr22:g.27197006A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs13055579|114|1||||||||||||Ensembl||A|A||||chr22:g.27197006A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA|1/3||ENST00000805271.1:n.93A>G||93|||||rs13055579||1||||||||||||Ensembl||A|A||||chr22:g.27197006A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=LINC01638,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=8199;gnomADv4_1_AC_joint_XX=4287;gnomADv4_1_AC_joint_XY=3912;gnomADv4_1_AF_grpmax_joint=0.0818356;gnomADv4_1_AF_joint=0.0538727;gnomADv4_1_AF_joint_XX=0.0551099;gnomADv4_1_AF_joint_XY=0.0525792;gnomADv4_1_AN_grpmax_joint=67990;gnomADv4_1_AN_joint=152192;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=327;gnomADv4_1_nhomalt_joint_XX=184;gnomADv4_1_nhomalt_joint_XY=143;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27198149 chr22_27198149_C_A C A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.101;CADD_Rawscore=-0.609707;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+14864G>T|||||||rs5752503||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27198149C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||2/2|ENST00000805267.1:n.926+864C>A|||||||rs5752503||1||||||||||||Ensembl||C|C||||chr22:g.27198149C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||1/1|ENST00000805268.1:n.462+864C>A|||||||rs5752503||1||||||||||||Ensembl||C|C||||chr22:g.27198149C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||1/1|ENST00000805269.1:n.308+1010C>A|||||||rs5752503||1||||||||||||Ensembl||C|C||||chr22:g.27198149C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||1/2|ENST00000805270.1:n.166+864C>A|||||||rs5752503||1||||||||||||Ensembl||C|C||||chr22:g.27198149C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||1/2|ENST00000805271.1:n.372+864C>A|||||||rs5752503||1||||||||||||Ensembl||C|C||||chr22:g.27198149C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=LINC01638,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=12471;gnomADv4_1_AC_joint_XX=6345;gnomADv4_1_AC_joint_XY=6126;gnomADv4_1_AF_grpmax_joint=0.137417;gnomADv4_1_AF_joint=0.0819318;gnomADv4_1_AF_joint_XX=0.0815679;gnomADv4_1_AF_joint_XY=0.0823122;gnomADv4_1_AN_grpmax_joint=41516;gnomADv4_1_AN_joint=152212;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=689;gnomADv4_1_nhomalt_joint_XX=374;gnomADv4_1_nhomalt_joint_XY=315;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27200649 chr22_27200649_C_T C T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.961;CADD_Rawscore=0.158772;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000427360|lncRNA||||||||||rs565638|3562|1||||3||||||||Ensembl||C|C||||chr22:g.27200649C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+12364G>A|||||||rs565638||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27200649C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||2/2|ENST00000805267.1:n.926+3364C>T|||||||rs565638||1||||||||||||Ensembl||C|C||||chr22:g.27200649C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||1/1|ENST00000805268.1:n.462+3364C>T|||||||rs565638||1||||||||||||Ensembl||C|C||||chr22:g.27200649C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||1/1|ENST00000805269.1:n.308+3510C>T|||||||rs565638||1||||||||||||Ensembl||C|C||||chr22:g.27200649C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||2/2|ENST00000805270.1:n.263+866C>T|||||||rs565638||1||||||||||||Ensembl||C|C||||chr22:g.27200649C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs565638|89|1||||||||||||Ensembl||C|C||||chr22:g.27200649C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000427360,ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000238195,ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=.,LINC01638,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78417;gnomADv4_1_AC_joint_XX=40539;gnomADv4_1_AC_joint_XY=37878;gnomADv4_1_AF_grpmax_joint=0.594492;gnomADv4_1_AF_joint=0.516445;gnomADv4_1_AF_joint_XX=0.522073;gnomADv4_1_AF_joint_XY=0.510554;gnomADv4_1_AN_grpmax_joint=41358;gnomADv4_1_AN_joint=151840;gnomADv4_1_AN_joint_XX=77650;gnomADv4_1_AN_joint_XY=74190;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20820;gnomADv4_1_nhomalt_joint_XX=10763;gnomADv4_1_nhomalt_joint_XY=10057;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27200874 chr22_27200874_A_G A G 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.252;CADD_Rawscore=-0.36684;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000427360|lncRNA||||||||||rs126041|3337|1||||3||||||||Ensembl||A|A||||chr22:g.27200874A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+12139T>C|||||||rs126041||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27200874A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||2/2|ENST00000805267.1:n.926+3589A>G|||||||rs126041||1||||||||||||Ensembl||A|A||||chr22:g.27200874A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||1/1|ENST00000805268.1:n.462+3589A>G|||||||rs126041||1||||||||||||Ensembl||A|A||||chr22:g.27200874A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||1/1|ENST00000805269.1:n.308+3735A>G|||||||rs126041||1||||||||||||Ensembl||A|A||||chr22:g.27200874A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||2/2|ENST00000805270.1:n.263+1091A>G|||||||rs126041||1||||||||||||Ensembl||A|A||||chr22:g.27200874A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs126041|314|1||||||||||||Ensembl||A|A||||chr22:g.27200874A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000427360,ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000238195,ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=.,LINC01638,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=125449;gnomADv4_1_AC_joint_XX=65167;gnomADv4_1_AC_joint_XY=60282;gnomADv4_1_AF_grpmax_joint=0.949347;gnomADv4_1_AF_joint=0.824726;gnomADv4_1_AF_joint_XX=0.838096;gnomADv4_1_AF_joint_XY=0.810743;gnomADv4_1_AN_grpmax_joint=41518;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=52939;gnomADv4_1_nhomalt_joint_XX=27870;gnomADv4_1_nhomalt_joint_XY=25069;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27201092 chr22_27201092_CAATAAATA_C CAATAAATA C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.775;CADDIndel_Rawscore=-0.083031;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000427360|lncRNA||||||||||rs369139018|3111|1||||3||||||||Ensembl||AATAAATA|AATAAATA||||chr22:g.27201111_27201118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+11913_354+11920del|||||||rs369139018||-1||HGNC|HGNC:52425|||||||||Ensembl||AATAAATA|AATAAATA||||chr22:g.27201111_27201118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||2/2|ENST00000805267.1:n.926+3826_926+3833del|||||||rs369139018||1||||||||||||Ensembl||AATAAATA|AATAAATA|||18|chr22:g.27201111_27201118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||1/1|ENST00000805268.1:n.462+3826_462+3833del|||||||rs369139018||1||||||||||||Ensembl||AATAAATA|AATAAATA|||18|chr22:g.27201111_27201118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||1/1|ENST00000805269.1:n.309-3858_309-3851del|||||||rs369139018||1||||||||||||Ensembl||AATAAATA|AATAAATA|||18|chr22:g.27201111_27201118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||2/2|ENST00000805270.1:n.263+1328_263+1335del|||||||rs369139018||1||||||||||||Ensembl||AATAAATA|AATAAATA|||18|chr22:g.27201111_27201118del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs369139018|533|1||||||||||||Ensembl||AATAAATA|AATAAATA||||chr22:g.27201111_27201118del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000427360,ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000238195,ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=.,LINC01638,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3796;gnomADv4_1_AC_joint_XX=2014;gnomADv4_1_AC_joint_XY=1782;gnomADv4_1_AF_grpmax_joint=0.0370081;gnomADv4_1_AF_joint=0.0250574;gnomADv4_1_AF_joint_XX=0.0260079;gnomADv4_1_AF_joint_XY=0.0240635;gnomADv4_1_AN_grpmax_joint=67904;gnomADv4_1_AN_joint=151492;gnomADv4_1_AN_joint_XX=77438;gnomADv4_1_AN_joint_XY=74054;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=72;gnomADv4_1_nhomalt_joint_XX=37;gnomADv4_1_nhomalt_joint_XY=35;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27201443 chr22_27201443_C_T C T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=2.614;CADD_Rawscore=0.235832;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000427360|lncRNA||||||||||rs16983918|2768|1||||3||||||||Ensembl||C|C||||chr22:g.27201443C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+11570G>A|||||||rs16983918||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27201443C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||2/2|ENST00000805267.1:n.927-3526C>T|||||||rs16983918||1||||||||||||Ensembl||C|C||||chr22:g.27201443C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||1/1|ENST00000805268.1:n.463-3526C>T|||||||rs16983918||1||||||||||||Ensembl||C|C||||chr22:g.27201443C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||1/1|ENST00000805269.1:n.309-3526C>T|||||||rs16983918||1||||||||||||Ensembl||C|C||||chr22:g.27201443C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||2/2|ENST00000805270.1:n.263+1660C>T|||||||rs16983918||1||||||||||||Ensembl||C|C||||chr22:g.27201443C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs16983918|883|1||||||||||||Ensembl||C|C||||chr22:g.27201443C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000427360,ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000238195,ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=.,LINC01638,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3086;gnomADv4_1_AC_joint_XX=1556;gnomADv4_1_AC_joint_XY=1530;gnomADv4_1_AF_grpmax_joint=0.0350622;gnomADv4_1_AF_joint=0.0202781;gnomADv4_1_AF_joint_XX=0.0200036;gnomADv4_1_AF_joint_XY=0.0205651;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152184;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=36;gnomADv4_1_nhomalt_joint_XX=17;gnomADv4_1_nhomalt_joint_XY=19;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27202511 chr22_27202511_AAC_A;chr22_27202511_A_AACACAC AAC A 43 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.309;CADDIndel_Rawscore=-0.314825;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000427360|lncRNA||||||||||rs55939399|1698|1||||3||||||||Ensembl||AC|AC||||chr22:g.27202546_27202547del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+10500_354+10501del|||||||rs55939399||-1||HGNC|HGNC:52425|||||||||Ensembl||AC|AC||||chr22:g.27202546_27202547del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||2/2|ENST00000805267.1:n.927-2423_927-2422del|||||||rs55939399||1||||||||||||Ensembl||AC|AC|||34|chr22:g.27202546_27202547del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||1/1|ENST00000805268.1:n.463-2423_463-2422del|||||||rs55939399||1||||||||||||Ensembl||AC|AC|||34|chr22:g.27202546_27202547del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||1/1|ENST00000805269.1:n.309-2423_309-2422del|||||||rs55939399||1||||||||||||Ensembl||AC|AC|||34|chr22:g.27202546_27202547del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||2/2|ENST00000805270.1:n.264-2423_264-2422del|||||||rs55939399||1||||||||||||Ensembl||AC|AC|||34|chr22:g.27202546_27202547del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs55939399|1952|1||||||||||||Ensembl||AC|AC||||chr22:g.27202546_27202547del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4NTR|enhancer||||||||||rs55939399|||||||||||||||||||||chr22:g.27202546_27202547del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000427360,ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271,ENSR22_C4NTR;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000238195,ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,.;VEP_SYMBOL=.,LINC01638,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57934;gnomADv4_1_AC_joint_XX=30074;gnomADv4_1_AC_joint_XY=27860;gnomADv4_1_AF_grpmax_joint=0.458333;gnomADv4_1_AF_joint=0.400257;gnomADv4_1_AF_joint_XX=0.40318;gnomADv4_1_AF_joint_XY=0.397149;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=144742;gnomADv4_1_AN_joint_XX=74592;gnomADv4_1_AN_joint_XY=70150;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11569;gnomADv4_1_nhomalt_joint_XX=6009;gnomADv4_1_nhomalt_joint_XY=5560;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27202511 chr22_27202511_AAC_A;chr22_27202511_A_AACACAC A AACACAC 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=0.319;CADDIndel_Rawscore=-0.306228;CSQ=ACACAC|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000427360|lncRNA||||||||||rs55939399|1699|1||||3||||||||Ensembl|||||||chr22:g.27202542_27202547dup|||||||||||||,ACACAC|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+10496_354+10501dup|||||||rs55939399||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27202542_27202547dup|||||||||||||,ACACAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||2/2|ENST00000805267.1:n.927-2427_927-2422dup|||||||rs55939399||1||||||||||||Ensembl||||||36|chr22:g.27202542_27202547dup|||||||||||||,ACACAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||1/1|ENST00000805268.1:n.463-2427_463-2422dup|||||||rs55939399||1||||||||||||Ensembl||||||36|chr22:g.27202542_27202547dup|||||||||||||,ACACAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||1/1|ENST00000805269.1:n.309-2427_309-2422dup|||||||rs55939399||1||||||||||||Ensembl||||||36|chr22:g.27202542_27202547dup|||||||||||||,ACACAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||2/2|ENST00000805270.1:n.264-2427_264-2422dup|||||||rs55939399||1||||||||||||Ensembl||||||36|chr22:g.27202542_27202547dup|||||||||||||,ACACAC|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs55939399|1951|1||||||||||||Ensembl|||||||chr22:g.27202542_27202547dup|||||||||||||,ACACAC|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4NTR|enhancer||||||||||rs55939399|||||||||||||||||||||chr22:g.27202542_27202547dup|||||||||||||;TYPE=INDEL;VEP_Allele=ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC;VEP_Feature=ENST00000427360,ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271,ENSR22_C4NTR;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000238195,ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,.;VEP_SYMBOL=.,LINC01638,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3691;gnomADv4_1_AC_joint_XX=1945;gnomADv4_1_AC_joint_XY=1746;gnomADv4_1_AF_grpmax_joint=0.0425233;gnomADv4_1_AF_joint=0.0254369;gnomADv4_1_AF_joint_XX=0.0260166;gnomADv4_1_AF_joint_XY=0.0248209;gnomADv4_1_AN_grpmax_joint=39202;gnomADv4_1_AN_joint=145104;gnomADv4_1_AN_joint_XX=74760;gnomADv4_1_AN_joint_XY=70344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=57;gnomADv4_1_nhomalt_joint_XX=30;gnomADv4_1_nhomalt_joint_XY=27;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27202640 chr22_27202640_A_T A T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.141;CADD_Rawscore=0.016366;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000427360|lncRNA||||||||||rs3888463|1571|1||||3||||||||Ensembl||A|A||||chr22:g.27202640A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+10373T>A|||||||rs3888463||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27202640A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||2/2|ENST00000805267.1:n.927-2329A>T|||||||rs3888463||1||||||||||||Ensembl||A|A||||chr22:g.27202640A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||1/1|ENST00000805268.1:n.463-2329A>T|||||||rs3888463||1||||||||||||Ensembl||A|A||||chr22:g.27202640A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||1/1|ENST00000805269.1:n.309-2329A>T|||||||rs3888463||1||||||||||||Ensembl||A|A||||chr22:g.27202640A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||2/2|ENST00000805270.1:n.264-2329A>T|||||||rs3888463||1||||||||||||Ensembl||A|A||||chr22:g.27202640A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs3888463|2080|1||||||||||||Ensembl||A|A||||chr22:g.27202640A>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4NTR|enhancer||||||||||rs3888463|||||||||||||||||||||chr22:g.27202640A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000427360,ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271,ENSR22_C4NTR;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000238195,ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,.;VEP_SYMBOL=.,LINC01638,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=76151;gnomADv4_1_AC_joint_XX=39385;gnomADv4_1_AC_joint_XY=36766;gnomADv4_1_AF_grpmax_joint=0.55964;gnomADv4_1_AF_joint=0.501792;gnomADv4_1_AF_joint_XX=0.507696;gnomADv4_1_AF_joint_XY=0.495619;gnomADv4_1_AN_grpmax_joint=41264;gnomADv4_1_AN_joint=151758;gnomADv4_1_AN_joint_XX=77576;gnomADv4_1_AN_joint_XY=74182;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=19614;gnomADv4_1_nhomalt_joint_XX=10181;gnomADv4_1_nhomalt_joint_XY=9433;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27203332 chr22_27203332_C_CAAT C CAAT 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=2.107;CADDIndel_Rawscore=0.177824;CSQ=AAT|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000427360|lncRNA||||||||||rs75678414|878|1||||3||||||||Ensembl|||||||chr22:g.27203349_27203351dup|||||||||||||,AAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+9678_354+9680dup|||||||rs75678414||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27203349_27203351dup|||||||||||||,AAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||2/2|ENST00000805267.1:n.927-1620_927-1618dup|||||||rs75678414||1||||||||||||Ensembl||||||19|chr22:g.27203349_27203351dup|||||||||||||,AAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||1/1|ENST00000805268.1:n.463-1620_463-1618dup|||||||rs75678414||1||||||||||||Ensembl||||||19|chr22:g.27203349_27203351dup|||||||||||||,AAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||1/1|ENST00000805269.1:n.309-1620_309-1618dup|||||||rs75678414||1||||||||||||Ensembl||||||19|chr22:g.27203349_27203351dup|||||||||||||,AAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||2/2|ENST00000805270.1:n.264-1620_264-1618dup|||||||rs75678414||1||||||||||||Ensembl||||||19|chr22:g.27203349_27203351dup|||||||||||||,AAT|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs75678414|2772|1||||||||||||Ensembl|||||||chr22:g.27203349_27203351dup|||||||||||||,AAT|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4NTR|enhancer||||||||||rs75678414|||||||||||||||||||||chr22:g.27203349_27203351dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAT,AAT,AAT,AAT,AAT,AAT,AAT,AAT;VEP_Feature=ENST00000427360,ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271,ENSR22_C4NTR;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000238195,ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,.;VEP_SYMBOL=.,LINC01638,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3204;gnomADv4_1_AC_joint_XX=1634;gnomADv4_1_AC_joint_XY=1570;gnomADv4_1_AF_grpmax_joint=0.0368355;gnomADv4_1_AF_joint=0.0211628;gnomADv4_1_AF_joint_XX=0.0210942;gnomADv4_1_AF_joint_XY=0.0212346;gnomADv4_1_AN_grpmax_joint=4778;gnomADv4_1_AN_joint=151398;gnomADv4_1_AN_joint_XX=77462;gnomADv4_1_AN_joint_XY=73936;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=32;gnomADv4_1_nhomalt_joint_XX=15;gnomADv4_1_nhomalt_joint_XY=17;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27203884 chr22_27203884_G_T G T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.86;CADD_Rawscore=-0.056599;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000427360|lncRNA||||||||||rs492416|327|1||||3||||||||Ensembl||G|G||||chr22:g.27203884G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+9129C>A|||||||rs492416||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27203884G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||2/2|ENST00000805267.1:n.927-1085G>T|||||||rs492416||1||||||||||||Ensembl||G|G||||chr22:g.27203884G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||1/1|ENST00000805268.1:n.463-1085G>T|||||||rs492416||1||||||||||||Ensembl||G|G||||chr22:g.27203884G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||1/1|ENST00000805269.1:n.309-1085G>T|||||||rs492416||1||||||||||||Ensembl||G|G||||chr22:g.27203884G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||2/2|ENST00000805270.1:n.264-1085G>T|||||||rs492416||1||||||||||||Ensembl||G|G||||chr22:g.27203884G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805271|lncRNA||||||||||rs492416|3324|1||||||||||||Ensembl||G|G||||chr22:g.27203884G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000427360,ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENST00000805271;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000238195,ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=.,LINC01638,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49450;gnomADv4_1_AC_joint_XX=25565;gnomADv4_1_AC_joint_XY=23885;gnomADv4_1_AF_grpmax_joint=0.44898;gnomADv4_1_AF_joint=0.325355;gnomADv4_1_AF_joint_XX=0.329107;gnomADv4_1_AF_joint_XY=0.321432;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151988;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8166;gnomADv4_1_nhomalt_joint_XX=4248;gnomADv4_1_nhomalt_joint_XY=3918;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27207946 chr22_27207946_C_A C A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.095;CADD_Rawscore=-0.626588;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000427360|lncRNA||||||||||rs559474|2820|1||||3||||||||Ensembl||C|C||||chr22:g.27207946C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+5067G>T|||||||rs559474||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27207946C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs559474|2820|1||||||||||||Ensembl||C|C||||chr22:g.27207946C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||||||||||rs559474|2820|1||||||||||||Ensembl||C|C||||chr22:g.27207946C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||||||||||rs559474|2820|1||||||||||||Ensembl||C|C||||chr22:g.27207946C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs559474|2820|1||||||||||||Ensembl||C|C||||chr22:g.27207946C>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DRKP|enhancer||||||||||rs559474|||||||||||||||||||||chr22:g.27207946C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000427360,ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270,ENSR22_9DRKP;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000238195,ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195,.;VEP_SYMBOL=.,LINC01638,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=126380;gnomADv4_1_AC_joint_XX=65598;gnomADv4_1_AC_joint_XY=60782;gnomADv4_1_AF_grpmax_joint=0.960206;gnomADv4_1_AF_joint=0.830235;gnomADv4_1_AF_joint_XX=0.84301;gnomADv4_1_AF_joint_XY=0.816875;gnomADv4_1_AN_grpmax_joint=41564;gnomADv4_1_AN_joint=152222;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=53670;gnomADv4_1_nhomalt_joint_XX=28221;gnomADv4_1_nhomalt_joint_XY=25449;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27208354 chr22_27208354_C_T C T 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.859;CADD_Rawscore=0.144567;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000427360|lncRNA||||||||||rs79141|3228|1||||3||||||||Ensembl||C|C||||chr22:g.27208354C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+4659G>A|||||||rs79141||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27208354C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs79141|3228|1||||||||||||Ensembl||C|C||||chr22:g.27208354C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||||||||||rs79141|3228|1||||||||||||Ensembl||C|C||||chr22:g.27208354C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||||||||||rs79141|3228|1||||||||||||Ensembl||C|C||||chr22:g.27208354C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs79141|3228|1||||||||||||Ensembl||C|C||||chr22:g.27208354C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000427360,ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000238195,ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=.,LINC01638,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=126378;gnomADv4_1_AC_joint_XX=65608;gnomADv4_1_AC_joint_XY=60770;gnomADv4_1_AF_grpmax_joint=0.960108;gnomADv4_1_AF_joint=0.830222;gnomADv4_1_AF_joint_XX=0.843052;gnomADv4_1_AF_joint_XY=0.816801;gnomADv4_1_AN_grpmax_joint=41562;gnomADv4_1_AN_joint=152222;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=53663;gnomADv4_1_nhomalt_joint_XX=28223;gnomADv4_1_nhomalt_joint_XY=25440;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27208825 chr22_27208825_CTT_C;chr22_27208825_CT_C CTT C 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=32;CADDIndel_PHREDscore=0.85;CADDIndel_Rawscore=-0.059507;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000427360|lncRNA||||||||||rs61179512|3700|1||||3||||||||Ensembl||TT|TT||||chr22:g.27208845_27208846del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+4186_354+4187del|||||||rs61179512||-1||HGNC|HGNC:52425|||||||||Ensembl||TT|TT||||chr22:g.27208845_27208846del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs61179512|3700|1||||||||||||Ensembl||TT|TT||||chr22:g.27208845_27208846del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||||||||||rs61179512|3700|1||||||||||||Ensembl||TT|TT||||chr22:g.27208845_27208846del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||||||||||rs61179512|3700|1||||||||||||Ensembl||TT|TT||||chr22:g.27208845_27208846del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs61179512|3700|1||||||||||||Ensembl||TT|TT||||chr22:g.27208845_27208846del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000427360,ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000238195,ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=.,LINC01638,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=54264;gnomADv4_1_AC_joint_XX=28663;gnomADv4_1_AC_joint_XY=25601;gnomADv4_1_AF_grpmax_joint=0.468371;gnomADv4_1_AF_joint=0.41373;gnomADv4_1_AF_joint_XX=0.417208;gnomADv4_1_AF_joint_XY=0.409905;gnomADv4_1_AN_grpmax_joint=62190;gnomADv4_1_AN_joint=131158;gnomADv4_1_AN_joint_XX=68702;gnomADv4_1_AN_joint_XY=62456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10915;gnomADv4_1_nhomalt_joint_XX=5829;gnomADv4_1_nhomalt_joint_XY=5086;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27208825 chr22_27208825_CTT_C;chr22_27208825_CT_C CT C 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=29;CADDIndel_PHREDscore=0.42;CADDIndel_Rawscore=-0.236985;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000427360|lncRNA||||||||||rs61179512|3700|1||||3||||||||Ensembl||T|T||||chr22:g.27208846del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+4187del|||||||rs61179512||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27208846del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs61179512|3700|1||||||||||||Ensembl||T|T||||chr22:g.27208846del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||||||||||rs61179512|3700|1||||||||||||Ensembl||T|T||||chr22:g.27208846del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||||||||||rs61179512|3700|1||||||||||||Ensembl||T|T||||chr22:g.27208846del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs61179512|3700|1||||||||||||Ensembl||T|T||||chr22:g.27208846del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000427360,ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000238195,ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=.,LINC01638,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=38271;gnomADv4_1_AC_joint_XX=20452;gnomADv4_1_AC_joint_XY=17819;gnomADv4_1_AF_grpmax_joint=0.354167;gnomADv4_1_AF_joint=0.292163;gnomADv4_1_AF_joint_XX=0.298012;gnomADv4_1_AF_joint_XY=0.285726;gnomADv4_1_AN_grpmax_joint=240;gnomADv4_1_AN_joint=130992;gnomADv4_1_AN_joint_XX=68628;gnomADv4_1_AN_joint_XY=62364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5151;gnomADv4_1_nhomalt_joint_XX=2855;gnomADv4_1_nhomalt_joint_XY=2296;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27209698 chr22_27209698_CTCTTTCTTTCTTTCTT_C;chr22_27209698_CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT_C;chr22_27209698_CTCTTTCTT_C CTCTTTCTTTCTTTCTT C 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.515;CADDIndel_Rawscore=-0.185764;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000427360|lncRNA||||||||||rs3061881|4573|1||||3||||||||Ensembl||TCTTTCTTTCTTTCTT|TCTTTCTTTCTTTCTT||||chr22:g.27209749_27209764del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+3299_354+3314del|||||||rs3061881||-1||HGNC|HGNC:52425|||||||||Ensembl||TCTTTCTTTCTTTCTT|TCTTTCTTTCTTTCTT||||chr22:g.27209749_27209764del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs3061881|4573|1||||||||||||Ensembl||TCTTTCTTTCTTTCTT|TCTTTCTTTCTTTCTT||||chr22:g.27209749_27209764del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||||||||||rs3061881|4573|1||||||||||||Ensembl||TCTTTCTTTCTTTCTT|TCTTTCTTTCTTTCTT||||chr22:g.27209749_27209764del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||||||||||rs3061881|4573|1||||||||||||Ensembl||TCTTTCTTTCTTTCTT|TCTTTCTTTCTTTCTT||||chr22:g.27209749_27209764del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs3061881|4573|1||||||||||||Ensembl||TCTTTCTTTCTTTCTT|TCTTTCTTTCTTTCTT||||chr22:g.27209749_27209764del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000427360,ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000238195,ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=.,LINC01638,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=13180;gnomADv4_1_AC_joint_XX=6952;gnomADv4_1_AC_joint_XY=6228;gnomADv4_1_AF_grpmax_joint=0.115667;gnomADv4_1_AF_joint=0.103102;gnomADv4_1_AF_joint_XX=0.1036;gnomADv4_1_AF_joint_XY=0.102552;gnomADv4_1_AN_grpmax_joint=61262;gnomADv4_1_AN_joint=127834;gnomADv4_1_AN_joint_XX=67104;gnomADv4_1_AN_joint_XY=60730;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=731;gnomADv4_1_nhomalt_joint_XX=396;gnomADv4_1_nhomalt_joint_XY=335;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27209698 chr22_27209698_CTCTTTCTTTCTTTCTT_C;chr22_27209698_CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT_C;chr22_27209698_CTCTTTCTT_C CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADDIndel_PHREDscore=0.41;CADDIndel_Rawscore=-0.242638;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000427360|lncRNA||||||||||rs3061881|4573|1||||3||||||||Ensembl||TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT|TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT||||chr22:g.27209733_27209764del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+3283_354+3314del|||||||rs3061881||-1||HGNC|HGNC:52425|||||||||Ensembl||TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT|TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT||||chr22:g.27209733_27209764del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs3061881|4573|1||||||||||||Ensembl||TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT|TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT||||chr22:g.27209733_27209764del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||||||||||rs3061881|4573|1||||||||||||Ensembl||TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT|TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT||||chr22:g.27209733_27209764del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||||||||||rs3061881|4573|1||||||||||||Ensembl||TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT|TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT||||chr22:g.27209733_27209764del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs3061881|4573|1||||||||||||Ensembl||TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT|TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT||||chr22:g.27209733_27209764del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000427360,ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000238195,ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=.,LINC01638,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=6615;gnomADv4_1_AC_joint_XX=3550;gnomADv4_1_AC_joint_XY=3065;gnomADv4_1_AF_grpmax_joint=0.0736434;gnomADv4_1_AF_joint=0.0516345;gnomADv4_1_AF_joint_XX=0.0528085;gnomADv4_1_AF_joint_XY=0.0503383;gnomADv4_1_AN_grpmax_joint=258;gnomADv4_1_AN_joint=128112;gnomADv4_1_AN_joint_XX=67224;gnomADv4_1_AN_joint_XY=60888;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=189;gnomADv4_1_nhomalt_joint_XX=90;gnomADv4_1_nhomalt_joint_XY=99;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27209698 chr22_27209698_CTCTTTCTTTCTTTCTT_C;chr22_27209698_CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT_C;chr22_27209698_CTCTTTCTT_C CTCTTTCTT C 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=28;CADDIndel_PHREDscore=0.569;CADDIndel_Rawscore=-0.160742;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000427360|lncRNA||||||||||rs3061881|4573|1||||3||||||||Ensembl||TCTTTCTT|TCTTTCTT||||chr22:g.27209757_27209764del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+3307_354+3314del|||||||rs3061881||-1||HGNC|HGNC:52425|||||||||Ensembl||TCTTTCTT|TCTTTCTT||||chr22:g.27209757_27209764del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs3061881|4573|1||||||||||||Ensembl||TCTTTCTT|TCTTTCTT||||chr22:g.27209757_27209764del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||||||||||rs3061881|4573|1||||||||||||Ensembl||TCTTTCTT|TCTTTCTT||||chr22:g.27209757_27209764del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||||||||||rs3061881|4573|1||||||||||||Ensembl||TCTTTCTT|TCTTTCTT||||chr22:g.27209757_27209764del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs3061881|4573|1||||||||||||Ensembl||TCTTTCTT|TCTTTCTT||||chr22:g.27209757_27209764del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000427360,ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000238195,ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=.,LINC01638,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=17262;gnomADv4_1_AC_joint_XX=8813;gnomADv4_1_AC_joint_XY=8449;gnomADv4_1_AF_grpmax_joint=0.216547;gnomADv4_1_AF_joint=0.135092;gnomADv4_1_AF_joint_XX=0.1314;gnomADv4_1_AF_joint_XY=0.13917;gnomADv4_1_AN_grpmax_joint=4170;gnomADv4_1_AN_joint=127780;gnomADv4_1_AN_joint_XX=67070;gnomADv4_1_AN_joint_XY=60710;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1247;gnomADv4_1_nhomalt_joint_XX=620;gnomADv4_1_nhomalt_joint_XY=627;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27210076 chr22_27210076_T_G T G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.802;CADD_Rawscore=-0.07455;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000427360|lncRNA||||||||||rs9613397|4950|1||||3||||||||Ensembl||T|T||||chr22:g.27210076T>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+2937A>C|||||||rs9613397||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27210076T>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805267|lncRNA||||||||||rs9613397|4950|1||||||||||||Ensembl||T|T||||chr22:g.27210076T>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805268|lncRNA||||||||||rs9613397|4950|1||||||||||||Ensembl||T|T||||chr22:g.27210076T>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805269|lncRNA||||||||||rs9613397|4950|1||||||||||||Ensembl||T|T||||chr22:g.27210076T>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000238195|Transcript|ENST00000805270|lncRNA||||||||||rs9613397|4950|1||||||||||||Ensembl||T|T||||chr22:g.27210076T>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000427360,ENST00000805083,ENST00000805267,ENST00000805268,ENST00000805269,ENST00000805270;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000238195,ENSG00000233521,ENSG00000238195,ENSG00000238195,ENSG00000238195,ENSG00000238195;VEP_SYMBOL=.,LINC01638,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=86808;gnomADv4_1_AC_joint_XX=44890;gnomADv4_1_AC_joint_XY=41918;gnomADv4_1_AF_grpmax_joint=0.743036;gnomADv4_1_AF_joint=0.571218;gnomADv4_1_AF_joint_XX=0.577675;gnomADv4_1_AF_joint_XY=0.564461;gnomADv4_1_AN_grpmax_joint=41426;gnomADv4_1_AN_joint=151970;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26078;gnomADv4_1_nhomalt_joint_XX=13572;gnomADv4_1_nhomalt_joint_XY=12506;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27210222 chr22_27210222_G_A G A 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.084;CADD_Rawscore=-0.658667;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+2791C>T|||||||rs9613399||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27210222G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000805083;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000233521;VEP_SYMBOL=LINC01638;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70233;gnomADv4_1_AC_joint_XX=36205;gnomADv4_1_AC_joint_XY=34028;gnomADv4_1_AF_grpmax_joint=0.528335;gnomADv4_1_AF_joint=0.462802;gnomADv4_1_AF_joint_XX=0.466331;gnomADv4_1_AF_joint_XY=0.459106;gnomADv4_1_AN_grpmax_joint=67902;gnomADv4_1_AN_joint=151756;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=74118;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16924;gnomADv4_1_nhomalt_joint_XX=8754;gnomADv4_1_nhomalt_joint_XY=8170;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27210816 chr22_27210816_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.021;CADD_Rawscore=-1.04971;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+2197A>G|||||||rs572784||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27210816T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000805083;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000233521;VEP_SYMBOL=LINC01638;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=95131;gnomADv4_1_AC_joint_XX=49277;gnomADv4_1_AC_joint_XY=45854;gnomADv4_1_AF_grpmax_joint=0.863647;gnomADv4_1_AF_joint=0.625598;gnomADv4_1_AF_joint_XX=0.633886;gnomADv4_1_AF_joint_XY=0.616931;gnomADv4_1_AN_grpmax_joint=41510;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31811;gnomADv4_1_nhomalt_joint_XX=16619;gnomADv4_1_nhomalt_joint_XY=15192;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27212125 chr22_27212125_T_C T C 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=3.673;CADD_Rawscore=0.336204;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||3/3|ENST00000805083.1:n.354+888A>G|||||||rs7285459||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27212125T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000805083;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000233521;VEP_SYMBOL=LINC01638;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37967;gnomADv4_1_AC_joint_XX=19648;gnomADv4_1_AC_joint_XY=18319;gnomADv4_1_AF_grpmax_joint=0.328601;gnomADv4_1_AF_joint=0.249615;gnomADv4_1_AF_joint_XX=0.252688;gnomADv4_1_AF_joint_XY=0.246402;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5599;gnomADv4_1_nhomalt_joint_XX=2941;gnomADv4_1_nhomalt_joint_XY=2658;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27213635 chr22_27213635_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.376;CADD_Rawscore=0.209976;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.224-492T>C|||||||rs551334||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27213635A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000805083;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000233521;VEP_SYMBOL=LINC01638;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=85195;gnomADv4_1_AC_joint_XX=43998;gnomADv4_1_AC_joint_XY=41197;gnomADv4_1_AF_grpmax_joint=0.703188;gnomADv4_1_AF_joint=0.560287;gnomADv4_1_AF_joint_XX=0.566138;gnomADv4_1_AF_joint_XY=0.55417;gnomADv4_1_AN_grpmax_joint=41464;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24851;gnomADv4_1_nhomalt_joint_XX=12901;gnomADv4_1_nhomalt_joint_XY=11950;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27213866 chr22_27213866_C_A C A 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADD_PHREDscore=0.27;CADD_Rawscore=-0.349269;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.224-723G>T|||||||rs495788||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27213866C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000805083;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000233521;VEP_SYMBOL=LINC01638;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=47094;gnomADv4_1_AC_joint_XX=24302;gnomADv4_1_AC_joint_XY=22792;gnomADv4_1_AF_grpmax_joint=0.568292;gnomADv4_1_AF_joint=0.310364;gnomADv4_1_AF_joint_XX=0.313291;gnomADv4_1_AF_joint_XY=0.307302;gnomADv4_1_AN_grpmax_joint=41352;gnomADv4_1_AN_joint=151738;gnomADv4_1_AN_joint_XX=77570;gnomADv4_1_AN_joint_XY=74168;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9265;gnomADv4_1_nhomalt_joint_XX=4744;gnomADv4_1_nhomalt_joint_XY=4521;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27213899 chr22_27213899_C_G C G 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=46;CADD_PHREDscore=2.969;CADD_Rawscore=0.271543;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.224-756G>C|||||||rs554059||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27213899C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000805083;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000233521;VEP_SYMBOL=LINC01638;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=47118;gnomADv4_1_AC_joint_XX=24309;gnomADv4_1_AC_joint_XY=22809;gnomADv4_1_AF_grpmax_joint=0.567903;gnomADv4_1_AF_joint=0.310309;gnomADv4_1_AF_joint_XX=0.313155;gnomADv4_1_AF_joint_XY=0.307333;gnomADv4_1_AN_grpmax_joint=41368;gnomADv4_1_AN_joint=151842;gnomADv4_1_AN_joint_XX=77626;gnomADv4_1_AN_joint_XY=74216;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9268;gnomADv4_1_nhomalt_joint_XX=4746;gnomADv4_1_nhomalt_joint_XY=4522;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27214204 chr22_27214204_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=7.877;CADD_Rawscore=0.755126;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.224-1061A>G|||||||rs556733||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27214204T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7DS8|enhancer||||||||||rs556733|||||||||||||||||||||chr22:g.27214204T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000805083,ENSR22_B7DS8;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000233521,.;VEP_SYMBOL=LINC01638,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=47304;gnomADv4_1_AC_joint_XX=24407;gnomADv4_1_AC_joint_XY=22897;gnomADv4_1_AF_grpmax_joint=0.571539;gnomADv4_1_AF_joint=0.311309;gnomADv4_1_AF_joint_XX=0.31424;gnomADv4_1_AF_joint_XY=0.308244;gnomADv4_1_AN_grpmax_joint=41404;gnomADv4_1_AN_joint=151952;gnomADv4_1_AN_joint_XX=77670;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9362;gnomADv4_1_nhomalt_joint_XX=4792;gnomADv4_1_nhomalt_joint_XY=4570;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27214676 chr22_27214676_A_C A C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.482;CADD_Rawscore=0.319092;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.224-1533T>G|||||||rs471216||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27214676A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000805083;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000233521;VEP_SYMBOL=LINC01638;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=97668;gnomADv4_1_AC_joint_XX=50707;gnomADv4_1_AC_joint_XY=46961;gnomADv4_1_AF_grpmax_joint=0.692105;gnomADv4_1_AF_joint=0.64284;gnomADv4_1_AF_joint_XX=0.652684;gnomADv4_1_AF_joint_XY=0.63254;gnomADv4_1_AN_grpmax_joint=41420;gnomADv4_1_AN_joint=151932;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31787;gnomADv4_1_nhomalt_joint_XX=16703;gnomADv4_1_nhomalt_joint_XY=15084;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27214719 chr22_27214719_G_C G C 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.792;CADD_Rawscore=0.134879;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.224-1576C>G|||||||rs1401527||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27214719G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000805083;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000233521;VEP_SYMBOL=LINC01638;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=82999;gnomADv4_1_AC_joint_XX=43020;gnomADv4_1_AC_joint_XY=39979;gnomADv4_1_AF_grpmax_joint=0.646259;gnomADv4_1_AF_joint=0.546262;gnomADv4_1_AF_joint_XX=0.553711;gnomADv4_1_AF_joint_XY=0.538467;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151940;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74246;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=23730;gnomADv4_1_nhomalt_joint_XX=12445;gnomADv4_1_nhomalt_joint_XY=11285;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27214864 chr22_27214864_C_T C T 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.703;CADD_Rawscore=0.338878;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.224-1721G>A|||||||rs113133756||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27214864C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000805083;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000233521;VEP_SYMBOL=LINC01638;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=4977;gnomADv4_1_AC_joint_XX=2459;gnomADv4_1_AC_joint_XY=2518;gnomADv4_1_AF_grpmax_joint=0.0578231;gnomADv4_1_AF_joint=0.0326901;gnomADv4_1_AF_joint_XX=0.0316067;gnomADv4_1_AF_joint_XY=0.0338223;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152248;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=117;gnomADv4_1_nhomalt_joint_XX=63;gnomADv4_1_nhomalt_joint_XY=54;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27215034 chr22_27215034_T_C T C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.39;CADD_Rawscore=-0.255776;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.224-1891A>G|||||||rs474758||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27215034T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000805083;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000233521;VEP_SYMBOL=LINC01638;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=47423;gnomADv4_1_AC_joint_XX=24470;gnomADv4_1_AC_joint_XY=22953;gnomADv4_1_AF_grpmax_joint=0.572149;gnomADv4_1_AF_joint=0.311907;gnomADv4_1_AF_joint_XX=0.314791;gnomADv4_1_AF_joint_XY=0.30889;gnomADv4_1_AN_grpmax_joint=41442;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9398;gnomADv4_1_nhomalt_joint_XX=4812;gnomADv4_1_nhomalt_joint_XY=4586;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27215166 chr22_27215166_T_G T G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.104;CADD_Rawscore=0.007754;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.224-2023A>C|||||||rs573129||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27215166T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000805083;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000233521;VEP_SYMBOL=LINC01638;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=47518;gnomADv4_1_AC_joint_XX=24512;gnomADv4_1_AC_joint_XY=23006;gnomADv4_1_AF_grpmax_joint=0.599763;gnomADv4_1_AF_joint=0.339472;gnomADv4_1_AF_joint_XX=0.342902;gnomADv4_1_AF_joint_XY=0.335893;gnomADv4_1_AN_grpmax_joint=39654;gnomADv4_1_AN_joint=139976;gnomADv4_1_AN_joint_XX=71484;gnomADv4_1_AN_joint_XY=68492;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9440;gnomADv4_1_nhomalt_joint_XX=4829;gnomADv4_1_nhomalt_joint_XY=4611;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27215183 chr22_27215183_A_AGCCCACTGGATG A AGCCCACTGGATG 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=1.731;CADDIndel_Rawscore=0.125756;CSQ=GCCCACTGGATG|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.224-2041_224-2040insCATCCAGTGGGC|||||||rs11272504||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27215185_27215186insCCACTGGATGGC|||||||||||||;TYPE=INDEL;VEP_Allele=GCCCACTGGATG;VEP_Feature=ENST00000805083;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000233521;VEP_SYMBOL=LINC01638;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=126152;gnomADv4_1_AC_joint_XX=65478;gnomADv4_1_AC_joint_XY=60674;gnomADv4_1_AF_grpmax_joint=0.960085;gnomADv4_1_AF_joint=0.8301;gnomADv4_1_AF_joint_XX=0.842898;gnomADv4_1_AF_joint_XY=0.816718;gnomADv4_1_AN_grpmax_joint=41488;gnomADv4_1_AN_joint=151972;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=53556;gnomADv4_1_nhomalt_joint_XX=28159;gnomADv4_1_nhomalt_joint_XY=25397;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27215367 chr22_27215367_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.859;CADD_Rawscore=-0.056882;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.224-2224C>T|||||||rs16983960||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27215367G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000805083;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000233521;VEP_SYMBOL=LINC01638;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33090;gnomADv4_1_AC_joint_XX=16957;gnomADv4_1_AC_joint_XY=16133;gnomADv4_1_AF_grpmax_joint=0.276779;gnomADv4_1_AF_joint=0.217511;gnomADv4_1_AF_joint_XX=0.218074;gnomADv4_1_AF_joint_XY=0.216923;gnomADv4_1_AN_grpmax_joint=41488;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3738;gnomADv4_1_nhomalt_joint_XX=1874;gnomADv4_1_nhomalt_joint_XY=1864;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27216607 chr22_27216607_C_T C T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.936;CADD_Rawscore=-0.034945;CSQ=T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs713851|4740|-1||HGNC|HGNC:52425|2||||||||Ensembl||C|C||||chr22:g.27216607C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.224-3464G>A|||||||rs713851||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27216607C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs713851|4743|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27216607C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs713851|4743|-1||EntrezGene|HGNC:52425|||||||||RefSeq||C|C||||chr22:g.27216607C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000444114,ENST00000805083,ENST00000805086,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=69245;gnomADv4_1_AC_joint_XX=36040;gnomADv4_1_AC_joint_XY=33205;gnomADv4_1_AF_grpmax_joint=0.561224;gnomADv4_1_AF_joint=0.456201;gnomADv4_1_AF_joint_XX=0.464206;gnomADv4_1_AF_joint_XY=0.447821;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151786;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=74148;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=16677;gnomADv4_1_nhomalt_joint_XX=8810;gnomADv4_1_nhomalt_joint_XY=7867;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27217169 chr22_27217169_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.234;CADD_Rawscore=-0.386456;CSQ=T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs536459|4178|-1||HGNC|HGNC:52425|2||||||||Ensembl||C|C||||chr22:g.27217169C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.224-4026G>A|||||||rs536459||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27217169C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs536459|4181|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27217169C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs536459|4181|-1||EntrezGene|HGNC:52425|||||||||RefSeq||C|C||||chr22:g.27217169C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000444114,ENST00000805083,ENST00000805086,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=84183;gnomADv4_1_AC_joint_XX=43870;gnomADv4_1_AC_joint_XY=40313;gnomADv4_1_AF_grpmax_joint=0.643368;gnomADv4_1_AF_joint=0.554193;gnomADv4_1_AF_joint_XX=0.564869;gnomADv4_1_AF_joint_XY=0.543024;gnomADv4_1_AN_grpmax_joint=41404;gnomADv4_1_AN_joint=151902;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23991;gnomADv4_1_nhomalt_joint_XX=12681;gnomADv4_1_nhomalt_joint_XY=11310;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27217357 chr22_27217357_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.017;CADD_Rawscore=-1.1108;CSQ=T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs538293|3990|-1||HGNC|HGNC:52425|2||||||||Ensembl||C|C||||chr22:g.27217357C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.224-4214G>A|||||||rs538293||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27217357C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs538293|3993|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27217357C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs538293|3993|-1||EntrezGene|HGNC:52425|||||||||RefSeq||C|C||||chr22:g.27217357C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000444114,ENST00000805083,ENST00000805086,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=47634;gnomADv4_1_AC_joint_XX=24571;gnomADv4_1_AC_joint_XY=23063;gnomADv4_1_AF_grpmax_joint=0.572221;gnomADv4_1_AF_joint=0.313229;gnomADv4_1_AF_joint_XX=0.316123;gnomADv4_1_AF_joint_XY=0.310203;gnomADv4_1_AN_grpmax_joint=41456;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9435;gnomADv4_1_nhomalt_joint_XX=4825;gnomADv4_1_nhomalt_joint_XY=4610;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27218537 chr22_27218537_C_A C A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.036;CADD_Rawscore=-0.008754;CSQ=A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs760606|4758|-1||HGNC|HGNC:52425|3||||||||Ensembl||C|C||||chr22:g.27218537C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs760606|2810|-1||HGNC|HGNC:52425|2||||||||Ensembl||C|C||||chr22:g.27218537C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs760606|4758|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27218537C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs760606|4760|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27218537C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs760606|4545|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27218537C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs760606|4760|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27218537C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.224-5394G>T|||||||rs760606||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27218537C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs760606|2813|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27218537C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs760606|4760|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27218537C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs760606|2813|-1||EntrezGene|HGNC:52425|||||||||RefSeq||C|C||||chr22:g.27218537C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73129;gnomADv4_1_AC_joint_XX=37745;gnomADv4_1_AC_joint_XY=35384;gnomADv4_1_AF_grpmax_joint=0.614831;gnomADv4_1_AF_joint=0.481099;gnomADv4_1_AF_joint_XX=0.485954;gnomADv4_1_AF_joint_XY=0.476026;gnomADv4_1_AN_grpmax_joint=67952;gnomADv4_1_AN_joint=152004;gnomADv4_1_AN_joint_XX=77672;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=19745;gnomADv4_1_nhomalt_joint_XX=10293;gnomADv4_1_nhomalt_joint_XY=9452;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27219344 chr22_27219344_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.005;CADD_Rawscore=-1.48859;CSQ=C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs715601|3951|-1||HGNC|HGNC:52425|3||||||||Ensembl||T|T||||chr22:g.27219344T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs715601|2003|-1||HGNC|HGNC:52425|2||||||||Ensembl||T|T||||chr22:g.27219344T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs715601|3951|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27219344T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs715601|3953|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27219344T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs715601|3738|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27219344T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs715601|3953|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27219344T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.223+4886A>G|||||||rs715601||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27219344T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs715601|2006|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27219344T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs715601|3953|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27219344T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs715601|2006|-1||EntrezGene|HGNC:52425|||||||||RefSeq||T|T||||chr22:g.27219344T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96305;gnomADv4_1_AC_joint_XX=49945;gnomADv4_1_AC_joint_XY=46360;gnomADv4_1_AF_grpmax_joint=0.673469;gnomADv4_1_AF_joint=0.633536;gnomADv4_1_AF_joint_XX=0.642578;gnomADv4_1_AF_joint_XY=0.624075;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=30931;gnomADv4_1_nhomalt_joint_XX=16209;gnomADv4_1_nhomalt_joint_XY=14722;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27219449 chr22_27219449_C_A C A 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.695;CADD_Rawscore=0.120286;CSQ=A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs559631|3846|-1||HGNC|HGNC:52425|3||||||||Ensembl||C|C||||chr22:g.27219449C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs559631|1898|-1||HGNC|HGNC:52425|2||||||||Ensembl||C|C||||chr22:g.27219449C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs559631|3846|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27219449C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs559631|3848|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27219449C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs559631|3633|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27219449C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs559631|3848|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27219449C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.223+4781G>T|||||||rs559631||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27219449C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs559631|1901|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27219449C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs559631|3848|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27219449C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs559631|1901|-1||EntrezGene|HGNC:52425|||||||||RefSeq||C|C||||chr22:g.27219449C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=95428;gnomADv4_1_AC_joint_XX=49474;gnomADv4_1_AC_joint_XY=45954;gnomADv4_1_AF_grpmax_joint=0.673469;gnomADv4_1_AF_joint=0.630004;gnomADv4_1_AF_joint_XX=0.639034;gnomADv4_1_AF_joint_XY=0.620564;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151472;gnomADv4_1_AN_joint_XX=77420;gnomADv4_1_AN_joint_XY=74052;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=30528;gnomADv4_1_nhomalt_joint_XX=15997;gnomADv4_1_nhomalt_joint_XY=14531;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27219480 chr22_27219480_T_TTTTC T TTTTC 21 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=21;CADDIndel_PHREDscore=0.785;CADDIndel_Rawscore=-0.079857;CSQ=TTTC|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs5844745|3814|-1||HGNC|HGNC:52425|3||||||||Ensembl|||||||chr22:g.27219546_27219549dup|||||||||||||,TTTC|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs5844745|1866|-1||HGNC|HGNC:52425|2||||||||Ensembl|||||||chr22:g.27219546_27219549dup|||||||||||||,TTTC|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs5844745|3814|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27219546_27219549dup|||||||||||||,TTTC|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs5844745|3816|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27219546_27219549dup|||||||||||||,TTTC|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs5844745|3601|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27219546_27219549dup|||||||||||||,TTTC|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs5844745|3816|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27219546_27219549dup|||||||||||||,TTTC|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.223+4746_223+4749dup|||||||rs5844745||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27219546_27219549dup|||||||||||||,TTTC|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs5844745|1869|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27219546_27219549dup|||||||||||||,TTTC|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs5844745|3816|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27219546_27219549dup|||||||||||||,TTTC|downstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs5844745|1869|-1||EntrezGene|HGNC:52425|||||||||RefSeq|||||||chr22:g.27219546_27219549dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTC,TTTC,TTTC,TTTC,TTTC,TTTC,TTTC,TTTC,TTTC,TTTC;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7380;gnomADv4_1_AC_joint_XX=3875;gnomADv4_1_AC_joint_XY=3505;gnomADv4_1_AF_grpmax_joint=0.135039;gnomADv4_1_AF_joint=0.0859079;gnomADv4_1_AF_joint_XX=0.0864917;gnomADv4_1_AF_joint_XY=0.0852715;gnomADv4_1_AN_grpmax_joint=3088;gnomADv4_1_AN_joint=85906;gnomADv4_1_AN_joint_XX=44802;gnomADv4_1_AN_joint_XY=41104;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=744;gnomADv4_1_nhomalt_joint_XX=394;gnomADv4_1_nhomalt_joint_XY=350;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27219550 chr22_27219550_C_T C T 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=23;CADD_PHREDscore=0.274;CADD_Rawscore=-0.345253;CSQ=T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs71324151|3745|-1||HGNC|HGNC:52425|3||||||||Ensembl||C|C||||chr22:g.27219550C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs71324151|1797|-1||HGNC|HGNC:52425|2||||||||Ensembl||C|C||||chr22:g.27219550C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs71324151|3745|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27219550C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs71324151|3747|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27219550C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs71324151|3532|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27219550C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs71324151|3747|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27219550C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.223+4680G>A|||||||rs71324151||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27219550C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs71324151|1800|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27219550C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs71324151|3747|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27219550C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs71324151|1800|-1||EntrezGene|HGNC:52425|||||||||RefSeq||C|C||||chr22:g.27219550C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5580;gnomADv4_1_AC_joint_XX=3035;gnomADv4_1_AC_joint_XY=2545;gnomADv4_1_AF_grpmax_joint=0.194915;gnomADv4_1_AF_joint=0.0950629;gnomADv4_1_AF_joint_XX=0.100086;gnomADv4_1_AF_joint_XY=0.0896948;gnomADv4_1_AN_grpmax_joint=118;gnomADv4_1_AN_joint=58698;gnomADv4_1_AN_joint_XX=30324;gnomADv4_1_AN_joint_XY=28374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=158;gnomADv4_1_nhomalt_joint_XX=98;gnomADv4_1_nhomalt_joint_XY=60;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27219607 chr22_27219607_T_G T G 30 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=30;CADD_PHREDscore=0.268;CADD_Rawscore=-0.350556;CSQ=G|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs4993671|3688|-1||HGNC|HGNC:52425|3||||||||Ensembl||T|T||||chr22:g.27219607T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs4993671|1740|-1||HGNC|HGNC:52425|2||||||||Ensembl||T|T||||chr22:g.27219607T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs4993671|3688|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27219607T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs4993671|3690|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27219607T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs4993671|3475|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27219607T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs4993671|3690|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27219607T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.223+4623A>C|||||||rs4993671||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27219607T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs4993671|1743|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27219607T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs4993671|3690|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27219607T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs4993671|1743|-1||EntrezGene|HGNC:52425|||||||||RefSeq||T|T||||chr22:g.27219607T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43846;gnomADv4_1_AC_joint_XX=23573;gnomADv4_1_AC_joint_XY=20273;gnomADv4_1_AF_grpmax_joint=0.512396;gnomADv4_1_AF_joint=0.444866;gnomADv4_1_AF_joint_XX=0.457515;gnomADv4_1_AF_joint_XY=0.43101;gnomADv4_1_AN_grpmax_joint=48564;gnomADv4_1_AN_joint=98560;gnomADv4_1_AN_joint_XX=51524;gnomADv4_1_AN_joint_XY=47036;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11544;gnomADv4_1_nhomalt_joint_XX=6273;gnomADv4_1_nhomalt_joint_XY=5271;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27219611 chr22_27219611_G_GCTCCCTCCCTCC G GCTCCCTCCCTCC 24 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=24;CADDIndel_PHREDscore=0.15;CADDIndel_Rawscore=-0.50318;CSQ=CTCCCTCCCTCC|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs199576561|3683|-1||HGNC|HGNC:52425|3||||||||Ensembl|||||||chr22:g.27219616_27219627dup|||||||||||||,CTCCCTCCCTCC|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs199576561|1735|-1||HGNC|HGNC:52425|2||||||||Ensembl|||||||chr22:g.27219616_27219627dup|||||||||||||,CTCCCTCCCTCC|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs199576561|3683|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27219616_27219627dup|||||||||||||,CTCCCTCCCTCC|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs199576561|3685|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27219616_27219627dup|||||||||||||,CTCCCTCCCTCC|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs199576561|3470|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27219616_27219627dup|||||||||||||,CTCCCTCCCTCC|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs199576561|3685|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27219616_27219627dup|||||||||||||,CTCCCTCCCTCC|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.223+4607_223+4618dup|||||||rs199576561||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27219616_27219627dup|||||||||||||,CTCCCTCCCTCC|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs199576561|1738|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27219616_27219627dup|||||||||||||,CTCCCTCCCTCC|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs199576561|3685|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27219616_27219627dup|||||||||||||,CTCCCTCCCTCC|downstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs199576561|1738|-1||EntrezGene|HGNC:52425|||||||||RefSeq|||||||chr22:g.27219616_27219627dup|||||||||||||;TYPE=INDEL;VEP_Allele=CTCCCTCCCTCC,CTCCCTCCCTCC,CTCCCTCCCTCC,CTCCCTCCCTCC,CTCCCTCCCTCC,CTCCCTCCCTCC,CTCCCTCCCTCC,CTCCCTCCCTCC,CTCCCTCCCTCC,CTCCCTCCCTCC;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46111;gnomADv4_1_AC_joint_XX=24883;gnomADv4_1_AC_joint_XY=21228;gnomADv4_1_AF_grpmax_joint=0.609049;gnomADv4_1_AF_joint=0.534273;gnomADv4_1_AF_joint_XX=0.543439;gnomADv4_1_AF_joint_XY=0.523915;gnomADv4_1_AN_grpmax_joint=44558;gnomADv4_1_AN_joint=86306;gnomADv4_1_AN_joint_XX=45788;gnomADv4_1_AN_joint_XY=40518;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13942;gnomADv4_1_nhomalt_joint_XX=7614;gnomADv4_1_nhomalt_joint_XY=6328;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27219927 chr22_27219927_AATCTGGGTAAAAAGGG_A AATCTGGGTAAAAAGGG A 42 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=1.088;CADDIndel_Rawscore=0.004159;CSQ=-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs6147580|3352|-1||HGNC|HGNC:52425|3||||||||Ensembl||ATCTGGGTAAAAAGGG|ATCTGGGTAAAAAGGG||||chr22:g.27219946_27219961del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs6147580|1404|-1||HGNC|HGNC:52425|2||||||||Ensembl||ATCTGGGTAAAAAGGG|ATCTGGGTAAAAAGGG||||chr22:g.27219946_27219961del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs6147580|3352|-1||HGNC|HGNC:52425|||||||||Ensembl||ATCTGGGTAAAAAGGG|ATCTGGGTAAAAAGGG||||chr22:g.27219946_27219961del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs6147580|3354|-1||HGNC|HGNC:52425|||||||||Ensembl||ATCTGGGTAAAAAGGG|ATCTGGGTAAAAAGGG||||chr22:g.27219946_27219961del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs6147580|3139|-1||HGNC|HGNC:52425|||||||||Ensembl||ATCTGGGTAAAAAGGG|ATCTGGGTAAAAAGGG||||chr22:g.27219946_27219961del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs6147580|3354|-1||HGNC|HGNC:52425|||||||||Ensembl||ATCTGGGTAAAAAGGG|ATCTGGGTAAAAAGGG||||chr22:g.27219946_27219961del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.223+4287_223+4302del|||||||rs6147580||-1||HGNC|HGNC:52425|||||||||Ensembl||ATCTGGGTAAAAAGGG|ATCTGGGTAAAAAGGG||||chr22:g.27219946_27219961del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs6147580|1407|-1||HGNC|HGNC:52425|||||||||Ensembl||ATCTGGGTAAAAAGGG|ATCTGGGTAAAAAGGG||||chr22:g.27219946_27219961del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs6147580|3354|-1||HGNC|HGNC:52425|||||||||Ensembl||ATCTGGGTAAAAAGGG|ATCTGGGTAAAAAGGG||||chr22:g.27219946_27219961del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs6147580|1407|-1||EntrezGene|HGNC:52425|||||||||RefSeq||ATCTGGGTAAAAAGGG|ATCTGGGTAAAAAGGG||||chr22:g.27219946_27219961del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73410;gnomADv4_1_AC_joint_XX=38131;gnomADv4_1_AC_joint_XY=35279;gnomADv4_1_AF_grpmax_joint=0.615926;gnomADv4_1_AF_joint=0.496101;gnomADv4_1_AF_joint_XX=0.501367;gnomADv4_1_AF_joint_XY=0.490531;gnomADv4_1_AN_grpmax_joint=67310;gnomADv4_1_AN_joint=147974;gnomADv4_1_AN_joint_XX=76054;gnomADv4_1_AN_joint_XY=71920;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=19788;gnomADv4_1_nhomalt_joint_XX=10387;gnomADv4_1_nhomalt_joint_XY=9401;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27220188 chr22_27220188_T_C T C 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.07;CADD_Rawscore=-0.709449;CSQ=C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs532088|3107|-1||HGNC|HGNC:52425|3||||||||Ensembl||T|T||||chr22:g.27220188T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs532088|1159|-1||HGNC|HGNC:52425|2||||||||Ensembl||T|T||||chr22:g.27220188T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs532088|3107|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27220188T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs532088|3109|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27220188T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs532088|2894|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27220188T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs532088|3109|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27220188T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.223+4042A>G|||||||rs532088||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27220188T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs532088|1162|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27220188T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs532088|3109|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27220188T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs532088|1162|-1||EntrezGene|HGNC:52425|||||||||RefSeq||T|T||||chr22:g.27220188T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=94290;gnomADv4_1_AC_joint_XX=48931;gnomADv4_1_AC_joint_XY=45359;gnomADv4_1_AF_grpmax_joint=0.670068;gnomADv4_1_AF_joint=0.621171;gnomADv4_1_AF_joint_XX=0.630197;gnomADv4_1_AF_joint_XY=0.611719;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151794;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74150;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=29656;gnomADv4_1_nhomalt_joint_XX=15566;gnomADv4_1_nhomalt_joint_XY=14090;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27220303 chr22_27220303_G_A G A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.995;CADD_Rawscore=0.163302;CSQ=A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs738219|2992|-1||HGNC|HGNC:52425|3||||||||Ensembl||G|G||||chr22:g.27220303G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs738219|1044|-1||HGNC|HGNC:52425|2||||||||Ensembl||G|G||||chr22:g.27220303G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs738219|2992|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27220303G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs738219|2994|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27220303G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs738219|2779|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27220303G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs738219|2994|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27220303G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.223+3927C>T|||||||rs738219||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27220303G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs738219|1047|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27220303G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs738219|2994|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27220303G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs738219|1047|-1||EntrezGene|HGNC:52425|||||||||RefSeq||G|G||||chr22:g.27220303G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DRPB|enhancer||||||||||rs738219|||||||||||||||||||||chr22:g.27220303G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1,ENSR22_9DRPB;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978,.;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=83022;gnomADv4_1_AC_joint_XX=43024;gnomADv4_1_AC_joint_XY=39998;gnomADv4_1_AF_grpmax_joint=0.64966;gnomADv4_1_AF_joint=0.546485;gnomADv4_1_AF_joint_XX=0.553833;gnomADv4_1_AF_joint_XY=0.538795;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=23686;gnomADv4_1_nhomalt_joint_XX=12401;gnomADv4_1_nhomalt_joint_XY=11285;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27220364 chr22_27220364_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.136;CADD_Rawscore=0.015292;CSQ=A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs16983971|2931|-1||HGNC|HGNC:52425|3||||||||Ensembl||G|G||||chr22:g.27220364G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs16983971|983|-1||HGNC|HGNC:52425|2||||||||Ensembl||G|G||||chr22:g.27220364G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs16983971|2931|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27220364G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs16983971|2933|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27220364G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs16983971|2718|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27220364G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs16983971|2933|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27220364G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.223+3866C>T|||||||rs16983971||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27220364G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs16983971|986|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27220364G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs16983971|2933|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27220364G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs16983971|986|-1||EntrezGene|HGNC:52425|||||||||RefSeq||G|G||||chr22:g.27220364G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DRPB|enhancer||||||||||rs16983971|||||||||||||||||||||chr22:g.27220364G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1,ENSR22_9DRPB;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978,.;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32749;gnomADv4_1_AC_joint_XX=16776;gnomADv4_1_AC_joint_XY=15973;gnomADv4_1_AF_grpmax_joint=0.272109;gnomADv4_1_AF_joint=0.215326;gnomADv4_1_AF_joint_XX=0.215813;gnomADv4_1_AF_joint_XY=0.214818;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152090;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3646;gnomADv4_1_nhomalt_joint_XX=1811;gnomADv4_1_nhomalt_joint_XY=1835;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27221217 chr22_27221217_GACAC_G GACAC G 21 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=21;CADDIndel_PHREDscore=0.593;CADDIndel_Rawscore=-0.150335;CSQ=-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs57724639|2074|-1||HGNC|HGNC:52425|3||||||||Ensembl||ACAC|ACAC||||chr22:g.27221235_27221238del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs57724639|126|-1||HGNC|HGNC:52425|2||||||||Ensembl||ACAC|ACAC||||chr22:g.27221235_27221238del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs57724639|2074|-1||HGNC|HGNC:52425|||||||||Ensembl||ACAC|ACAC||||chr22:g.27221235_27221238del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs57724639|2076|-1||HGNC|HGNC:52425|||||||||Ensembl||ACAC|ACAC||||chr22:g.27221235_27221238del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs57724639|1861|-1||HGNC|HGNC:52425|||||||||Ensembl||ACAC|ACAC||||chr22:g.27221235_27221238del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs57724639|2076|-1||HGNC|HGNC:52425|||||||||Ensembl||ACAC|ACAC||||chr22:g.27221235_27221238del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.223+3009_223+3012del|||||||rs57724639||-1||HGNC|HGNC:52425|||||||||Ensembl||ACAC|ACAC||||chr22:g.27221235_27221238del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs57724639|129|-1||HGNC|HGNC:52425|||||||||Ensembl||ACAC|ACAC||||chr22:g.27221235_27221238del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs57724639|2076|-1||HGNC|HGNC:52425|||||||||Ensembl||ACAC|ACAC||||chr22:g.27221235_27221238del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs57724639|129|-1||EntrezGene|HGNC:52425|||||||||RefSeq||ACAC|ACAC||||chr22:g.27221235_27221238del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36807;gnomADv4_1_AC_joint_XX=19455;gnomADv4_1_AC_joint_XY=17352;gnomADv4_1_AF_grpmax_joint=0.484325;gnomADv4_1_AF_joint=0.319877;gnomADv4_1_AF_joint_XX=0.325378;gnomADv4_1_AF_joint_XY=0.313927;gnomADv4_1_AN_grpmax_joint=28900;gnomADv4_1_AN_joint=115066;gnomADv4_1_AN_joint_XX=59792;gnomADv4_1_AN_joint_XY=55274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6919;gnomADv4_1_nhomalt_joint_XX=3610;gnomADv4_1_nhomalt_joint_XY=3309;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27221243 chr22_27221243_GAC_G GAC G 26 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=26;CADDIndel_PHREDscore=0.848;CADDIndel_Rawscore=-0.060279;CSQ=-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs34003238|2050|-1||HGNC|HGNC:52425|3||||||||Ensembl||AC|AC||||chr22:g.27221261_27221262del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs34003238|102|-1||HGNC|HGNC:52425|2||||||||Ensembl||AC|AC||||chr22:g.27221261_27221262del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs34003238|2050|-1||HGNC|HGNC:52425|||||||||Ensembl||AC|AC||||chr22:g.27221261_27221262del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs34003238|2052|-1||HGNC|HGNC:52425|||||||||Ensembl||AC|AC||||chr22:g.27221261_27221262del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs34003238|1837|-1||HGNC|HGNC:52425|||||||||Ensembl||AC|AC||||chr22:g.27221261_27221262del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs34003238|2052|-1||HGNC|HGNC:52425|||||||||Ensembl||AC|AC||||chr22:g.27221261_27221262del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.223+2985_223+2986del|||||||rs34003238||-1||HGNC|HGNC:52425|||||||||Ensembl||AC|AC||||chr22:g.27221261_27221262del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs34003238|105|-1||HGNC|HGNC:52425|||||||||Ensembl||AC|AC||||chr22:g.27221261_27221262del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs34003238|2052|-1||HGNC|HGNC:52425|||||||||Ensembl||AC|AC||||chr22:g.27221261_27221262del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs34003238|105|-1||EntrezGene|HGNC:52425|||||||||RefSeq||AC|AC||||chr22:g.27221261_27221262del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53134;gnomADv4_1_AC_joint_XX=28319;gnomADv4_1_AC_joint_XY=24815;gnomADv4_1_AF_grpmax_joint=0.57325;gnomADv4_1_AF_joint=0.498995;gnomADv4_1_AF_joint_XX=0.510252;gnomADv4_1_AF_joint_XY=0.48674;gnomADv4_1_AN_grpmax_joint=53884;gnomADv4_1_AN_joint=106482;gnomADv4_1_AN_joint_XX=55500;gnomADv4_1_AN_joint_XY=50982;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=12905;gnomADv4_1_nhomalt_joint_XX=7020;gnomADv4_1_nhomalt_joint_XY=5885;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27221725 chr22_27221725_AAG_A AAG A 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=.;AF_XY=0.5;AN=4;AN_XX=0;AN_XY=4;AQ=34;CADDIndel_PHREDscore=0.617;CADDIndel_Rawscore=-0.140531;CSQ=-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs533167491|1568|-1||HGNC|HGNC:52425|3||||||||Ensembl||AG|AG||||chr22:g.27221727_27221728del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||2/2|ENST00000444114.6:n.310-26_310-25del|||||||rs533167491||-1||HGNC|HGNC:52425|2||||||||Ensembl||AG|AG||||chr22:g.27221727_27221728del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs533167491|1568|-1||HGNC|HGNC:52425|||||||||Ensembl||AG|AG||||chr22:g.27221727_27221728del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs533167491|1570|-1||HGNC|HGNC:52425|||||||||Ensembl||AG|AG||||chr22:g.27221727_27221728del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs533167491|1355|-1||HGNC|HGNC:52425|||||||||Ensembl||AG|AG||||chr22:g.27221727_27221728del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs533167491|1570|-1||HGNC|HGNC:52425|||||||||Ensembl||AG|AG||||chr22:g.27221727_27221728del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.223+2503_223+2504del|||||||rs533167491||-1||HGNC|HGNC:52425|||||||||Ensembl||AG|AG||||chr22:g.27221727_27221728del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||1/1|ENST00000805086.1:n.341-26_341-25del|||||||rs533167491||-1||HGNC|HGNC:52425|||||||||Ensembl||AG|AG||||chr22:g.27221727_27221728del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs533167491|1570|-1||HGNC|HGNC:52425|||||||||Ensembl||AG|AG||||chr22:g.27221727_27221728del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||2/2|NR_171021.1:n.237-26_237-25del|||||||rs533167491||-1||EntrezGene|HGNC:52425|||||||||RefSeq||AG|AG||||chr22:g.27221727_27221728del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54521;gnomADv4_1_AC_joint_XX=29835;gnomADv4_1_AC_joint_XY=24686;gnomADv4_1_AF_grpmax_joint=0.550787;gnomADv4_1_AF_joint=0.459209;gnomADv4_1_AF_joint_XX=0.477039;gnomADv4_1_AF_joint_XY=0.439362;gnomADv4_1_AN_grpmax_joint=58480;gnomADv4_1_AN_joint=118728;gnomADv4_1_AN_joint_XX=62542;gnomADv4_1_AN_joint_XY=56186;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=12754;gnomADv4_1_nhomalt_joint_XX=7248;gnomADv4_1_nhomalt_joint_XY=5506;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27222075 chr22_27222075_T_A T A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.009;CADD_Rawscore=-0.015537;CSQ=A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs6005338|1220|-1||HGNC|HGNC:52425|3||||||||Ensembl||T|T||||chr22:g.27222075T>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||2/2|ENST00000444114.6:n.310-374A>T|||||||rs6005338||-1||HGNC|HGNC:52425|2||||||||Ensembl||T|T||||chr22:g.27222075T>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs6005338|1220|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27222075T>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs6005338|1222|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27222075T>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs6005338|1007|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27222075T>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs6005338|1222|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27222075T>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.223+2155A>T|||||||rs6005338||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27222075T>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||1/1|ENST00000805086.1:n.341-374A>T|||||||rs6005338||-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27222075T>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs6005338|1222|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27222075T>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||2/2|NR_171021.1:n.237-374A>T|||||||rs6005338||-1||EntrezGene|HGNC:52425|||||||||RefSeq||T|T||||chr22:g.27222075T>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56495;gnomADv4_1_AC_joint_XX=29434;gnomADv4_1_AC_joint_XY=27061;gnomADv4_1_AF_grpmax_joint=0.49294;gnomADv4_1_AF_joint=0.371438;gnomADv4_1_AF_joint_XX=0.378553;gnomADv4_1_AF_joint_XY=0.363997;gnomADv4_1_AN_grpmax_joint=67986;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=12126;gnomADv4_1_nhomalt_joint_XX=6453;gnomADv4_1_nhomalt_joint_XY=5673;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27222306 chr22_27222306_A_G A G 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=8.567;CADD_Rawscore=0.829531;CSQ=G|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs5997200|989|-1||HGNC|HGNC:52425|3||||||||Ensembl||A|A||||chr22:g.27222306A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||2/2|ENST00000444114.6:n.310-605T>C|||||||rs5997200||-1||HGNC|HGNC:52425|2||||||||Ensembl||A|A||||chr22:g.27222306A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs5997200|989|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27222306A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs5997200|991|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27222306A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs5997200|776|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27222306A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs5997200|991|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27222306A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.223+1924T>C|||||||rs5997200||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27222306A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||1/1|ENST00000805086.1:n.341-605T>C|||||||rs5997200||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27222306A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs5997200|991|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27222306A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||2/2|NR_171021.1:n.237-605T>C|||||||rs5997200||-1||EntrezGene|HGNC:52425|||||||||RefSeq||A|A||||chr22:g.27222306A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68826;gnomADv4_1_AC_joint_XX=35770;gnomADv4_1_AC_joint_XY=33056;gnomADv4_1_AF_grpmax_joint=0.593994;gnomADv4_1_AF_joint=0.453411;gnomADv4_1_AF_joint_XX=0.460823;gnomADv4_1_AF_joint_XY=0.445655;gnomADv4_1_AN_grpmax_joint=67866;gnomADv4_1_AN_joint=151796;gnomADv4_1_AN_joint_XX=77622;gnomADv4_1_AN_joint_XY=74174;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=17690;gnomADv4_1_nhomalt_joint_XX=9345;gnomADv4_1_nhomalt_joint_XY=8345;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27222891 chr22_27222891_A_AT A AT 28 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=28;CADDIndel_PHREDscore=0.178;CADDIndel_Rawscore=-0.456987;CSQ=T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs201027329|403|-1||HGNC|HGNC:52425|3||||||||Ensembl|||||||chr22:g.27222913dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||2/2|ENST00000444114.6:n.310-1191dup|||||||rs201027329||-1||HGNC|HGNC:52425|2||||||||Ensembl|||||||chr22:g.27222913dup|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs201027329|403|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27222913dup|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs201027329|405|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27222913dup|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs201027329|190|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27222913dup|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs201027329|405|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27222913dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.223+1338dup|||||||rs201027329||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27222913dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||1/1|ENST00000805086.1:n.341-1191dup|||||||rs201027329||-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27222913dup|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs201027329|405|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27222913dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||2/2|NR_171021.1:n.237-1191dup|||||||rs201027329||-1||EntrezGene|HGNC:52425|||||||||RefSeq|||||||chr22:g.27222913dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65748;gnomADv4_1_AC_joint_XX=35870;gnomADv4_1_AC_joint_XY=29878;gnomADv4_1_AF_grpmax_joint=0.63964;gnomADv4_1_AF_joint=0.550432;gnomADv4_1_AF_joint_XX=0.56474;gnomADv4_1_AF_joint_XY=0.534184;gnomADv4_1_AN_grpmax_joint=222;gnomADv4_1_AN_joint=119448;gnomADv4_1_AN_joint_XX=63516;gnomADv4_1_AN_joint_XY=55932;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=18580;gnomADv4_1_nhomalt_joint_XX=10402;gnomADv4_1_nhomalt_joint_XY=8178;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27223883 chr22_27223883_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.99;CADD_Rawscore=-0.020473;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||2/2|ENST00000418271.2:n.237-249G>A|||||||rs9613403||-1||HGNC|HGNC:52425|3||||||||Ensembl||C|C||||chr22:g.27223883C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||2/2|ENST00000444114.6:n.309+347G>A|||||||rs9613403||-1||HGNC|HGNC:52425|2||||||||Ensembl||C|C||||chr22:g.27223883C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||1/1|ENST00000650737.4:n.429-227G>A|||||||rs9613403||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27223883C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||2/2|ENST00000659538.1:n.182-227G>A|||||||rs9613403||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27223883C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||2/2|ENST00000660027.3:n.281-227G>A|||||||rs9613403||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27223883C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||1/1|ENST00000690524.2:n.482-249G>A|||||||rs9613403||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27223883C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||2/3|ENST00000805083.1:n.223+347G>A|||||||rs9613403||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27223883C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||1/1|ENST00000805086.1:n.340+347G>A|||||||rs9613403||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27223883C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||2/2|ENST00000805088.1:n.227-227G>A|||||||rs9613403||-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27223883C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||2/2|NR_171021.1:n.236+347G>A|||||||rs9613403||-1||EntrezGene|HGNC:52425|||||||||RefSeq||C|C||||chr22:g.27223883C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7DTL|enhancer||||||||||rs9613403|||||||||||||||||||||chr22:g.27223883C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1,ENSR22_B7DTL;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978,.;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68736;gnomADv4_1_AC_joint_XX=35708;gnomADv4_1_AC_joint_XY=33028;gnomADv4_1_AF_grpmax_joint=0.591547;gnomADv4_1_AF_joint=0.451925;gnomADv4_1_AF_joint_XX=0.45922;gnomADv4_1_AF_joint_XY=0.444295;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=17601;gnomADv4_1_nhomalt_joint_XX=9296;gnomADv4_1_nhomalt_joint_XY=8305;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27224553 chr22_27224553_G_T G T 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=2.034;CADD_Rawscore=0.168349;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA|1/3||ENST00000418271.2:n.127C>A||127|||||rs508576||-1||HGNC|HGNC:52425|3||||||||Ensembl||G|G||||chr22:g.27224553G>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA|1/3||ENST00000444114.6:n.200C>A||200|||||rs508576||-1||HGNC|HGNC:52425|2||||||||Ensembl||G|G||||chr22:g.27224553G>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA|1/2||ENST00000650737.4:n.105C>A||105|||||rs508576||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27224553G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||1/2|ENST00000659538.1:n.103-245C>A|||||||rs508576||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27224553G>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA|1/3||ENST00000660027.3:n.171C>A||171|||||rs508576||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27224553G>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA|1/2||ENST00000690524.2:n.158C>A||158|||||rs508576||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27224553G>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA|1/4||ENST00000805083.1:n.114C>A||114|||||rs508576||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27224553G>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA|1/2||ENST00000805086.1:n.17C>A||17|||||rs508576||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27224553G>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA|1/3||ENST00000805088.1:n.113C>A||113|||||rs508576||-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27224553G>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA|1/3||NR_171021.1:n.127C>A||127|||||rs508576||-1||EntrezGene|HGNC:52425|||||||||RefSeq||G|G||||chr22:g.27224553G>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DRQG|enhancer||||||||||rs508576|||||||||||||||||||||chr22:g.27224553G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1,ENSR22_9DRQG;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978,.;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=104899;gnomADv4_1_AC_joint_XX=54423;gnomADv4_1_AC_joint_XY=50476;gnomADv4_1_AF_grpmax_joint=0.823129;gnomADv4_1_AF_joint=0.688585;gnomADv4_1_AF_joint_XX=0.699345;gnomADv4_1_AF_joint_XY=0.677348;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152340;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74520;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=36865;gnomADv4_1_nhomalt_joint_XX=19403;gnomADv4_1_nhomalt_joint_XY=17462;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27224968 chr22_27224968_A_T A T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.354;CADD_Rawscore=-0.279856;CSQ=T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs509317|289|-1||HGNC|HGNC:52425|3||||||||Ensembl||A|A||||chr22:g.27224968A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs509317|216|-1||HGNC|HGNC:52425|2||||||||Ensembl||A|A||||chr22:g.27224968A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs509317|311|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27224968A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||1/2|ENST00000659538.1:n.102+65T>A|||||||rs509317||-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27224968A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs509317|245|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27224968A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs509317|258|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27224968A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs509317|302|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27224968A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs509317|399|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27224968A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs509317|303|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27224968A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs509317|289|-1||EntrezGene|HGNC:52425|||||||||RefSeq||A|A||||chr22:g.27224968A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=127293;gnomADv4_1_AC_joint_XX=65857;gnomADv4_1_AC_joint_XY=61436;gnomADv4_1_AF_grpmax_joint=0.942832;gnomADv4_1_AF_joint=0.836617;gnomADv4_1_AF_joint_XX=0.846861;gnomADv4_1_AF_joint_XY=0.825908;gnomADv4_1_AN_grpmax_joint=41544;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=54191;gnomADv4_1_nhomalt_joint_XX=28326;gnomADv4_1_nhomalt_joint_XY=25865;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27225190 chr22_27225190_G_A G A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.239;CADD_Rawscore=0.037974;CSQ=A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs535842|511|-1||HGNC|HGNC:52425|3||||||||Ensembl||G|G||||chr22:g.27225190G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs535842|438|-1||HGNC|HGNC:52425|2||||||||Ensembl||G|G||||chr22:g.27225190G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs535842|533|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27225190G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs535842|56|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27225190G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs535842|467|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27225190G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs535842|480|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27225190G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs535842|524|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27225190G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs535842|621|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27225190G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs535842|525|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27225190G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs535842|511|-1||EntrezGene|HGNC:52425|||||||||RefSeq||G|G||||chr22:g.27225190G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=114384;gnomADv4_1_AC_joint_XX=58975;gnomADv4_1_AC_joint_XY=55409;gnomADv4_1_AF_grpmax_joint=0.891156;gnomADv4_1_AF_joint=0.75216;gnomADv4_1_AF_joint_XX=0.758638;gnomADv4_1_AF_joint_XY=0.745386;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=43812;gnomADv4_1_nhomalt_joint_XX=22795;gnomADv4_1_nhomalt_joint_XY=21017;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27225827 chr22_27225827_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=8.183;CADD_Rawscore=0.788885;CSQ=A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs9613405|1148|-1||HGNC|HGNC:52425|3||||||||Ensembl||G|G||||chr22:g.27225827G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs9613405|1075|-1||HGNC|HGNC:52425|2||||||||Ensembl||G|G||||chr22:g.27225827G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs9613405|1170|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27225827G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs9613405|693|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27225827G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs9613405|1104|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27225827G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs9613405|1117|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27225827G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs9613405|1161|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27225827G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs9613405|1258|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27225827G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs9613405|1162|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27225827G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs9613405|1148|-1||EntrezGene|HGNC:52425|||||||||RefSeq||G|G||||chr22:g.27225827G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8329;gnomADv4_1_AC_joint_XX=4227;gnomADv4_1_AC_joint_XY=4102;gnomADv4_1_AF_grpmax_joint=0.12161;gnomADv4_1_AF_joint=0.0547622;gnomADv4_1_AF_joint_XX=0.0543638;gnomADv4_1_AF_joint_XY=0.0551789;gnomADv4_1_AN_grpmax_joint=4794;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=260;gnomADv4_1_nhomalt_joint_XX=108;gnomADv4_1_nhomalt_joint_XY=152;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27225890 chr22_27225890_A_C A C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.329;CADD_Rawscore=-0.298917;CSQ=C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs7290349|1211|-1||HGNC|HGNC:52425|3||||||||Ensembl||A|A||||chr22:g.27225890A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs7290349|1138|-1||HGNC|HGNC:52425|2||||||||Ensembl||A|A||||chr22:g.27225890A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs7290349|1233|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27225890A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs7290349|756|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27225890A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs7290349|1167|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27225890A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs7290349|1180|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27225890A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs7290349|1224|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27225890A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs7290349|1321|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27225890A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs7290349|1225|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27225890A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs7290349|1211|-1||EntrezGene|HGNC:52425|||||||||RefSeq||A|A||||chr22:g.27225890A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21761;gnomADv4_1_AC_joint_XX=10791;gnomADv4_1_AC_joint_XY=10970;gnomADv4_1_AF_grpmax_joint=0.294712;gnomADv4_1_AF_joint=0.143323;gnomADv4_1_AF_joint_XX=0.138991;gnomADv4_1_AF_joint_XY=0.147856;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=151832;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=74194;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1766;gnomADv4_1_nhomalt_joint_XX=835;gnomADv4_1_nhomalt_joint_XY=931;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27226655 chr22_27226655_A_G A G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=3.196;CADD_Rawscore=0.292952;CSQ=G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs2149019329&rs2149019334&rs2149019335&rs2149019340&rs7285915|1976|-1||HGNC|HGNC:52425|3||||||||Ensembl||A|A||||chr22:g.27226655A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs2149019329&rs2149019334&rs2149019335&rs2149019340&rs7285915|1903|-1||HGNC|HGNC:52425|2||||||||Ensembl||A|A||||chr22:g.27226655A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs2149019329&rs2149019334&rs2149019335&rs2149019340&rs7285915|1998|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27226655A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs2149019329&rs2149019334&rs2149019335&rs2149019340&rs7285915|1521|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27226655A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs2149019329&rs2149019334&rs2149019335&rs2149019340&rs7285915|1932|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27226655A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs2149019329&rs2149019334&rs2149019335&rs2149019340&rs7285915|1945|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27226655A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs2149019329&rs2149019334&rs2149019335&rs2149019340&rs7285915|1989|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27226655A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs2149019329&rs2149019334&rs2149019335&rs2149019340&rs7285915|2086|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27226655A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs2149019329&rs2149019334&rs2149019335&rs2149019340&rs7285915|1990|-1||HGNC|HGNC:52425|||||||||Ensembl||A|A||||chr22:g.27226655A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs2149019329&rs2149019334&rs2149019335&rs2149019340&rs7285915|1976|-1||EntrezGene|HGNC:52425|||||||||RefSeq||A|A||||chr22:g.27226655A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14062;gnomADv4_1_AC_joint_XX=7009;gnomADv4_1_AC_joint_XY=7053;gnomADv4_1_AF_grpmax_joint=0.203242;gnomADv4_1_AF_joint=0.0924426;gnomADv4_1_AF_joint_XX=0.090127;gnomADv4_1_AF_joint_XY=0.0948647;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=689;gnomADv4_1_nhomalt_joint_XX=311;gnomADv4_1_nhomalt_joint_XY=378;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27226684 chr22_27226684_C_T C T 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.432;CADD_Rawscore=-0.22981;CSQ=T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs2149019345&rs2149019346&rs2149019347&rs2149019350&rs570703|2005|-1||HGNC|HGNC:52425|3||||||||Ensembl||C|C||||chr22:g.27226684C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs2149019345&rs2149019346&rs2149019347&rs2149019350&rs570703|1932|-1||HGNC|HGNC:52425|2||||||||Ensembl||C|C||||chr22:g.27226684C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs2149019345&rs2149019346&rs2149019347&rs2149019350&rs570703|2027|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27226684C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs2149019345&rs2149019346&rs2149019347&rs2149019350&rs570703|1550|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27226684C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs2149019345&rs2149019346&rs2149019347&rs2149019350&rs570703|1961|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27226684C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs2149019345&rs2149019346&rs2149019347&rs2149019350&rs570703|1974|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27226684C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs2149019345&rs2149019346&rs2149019347&rs2149019350&rs570703|2018|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27226684C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs2149019345&rs2149019346&rs2149019347&rs2149019350&rs570703|2115|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27226684C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs2149019345&rs2149019346&rs2149019347&rs2149019350&rs570703|2019|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27226684C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs2149019345&rs2149019346&rs2149019347&rs2149019350&rs570703|2005|-1||EntrezGene|HGNC:52425|||||||||RefSeq||C|C||||chr22:g.27226684C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=92067;gnomADv4_1_AC_joint_XX=47136;gnomADv4_1_AC_joint_XY=44931;gnomADv4_1_AF_grpmax_joint=0.802035;gnomADv4_1_AF_joint=0.605999;gnomADv4_1_AF_joint_XX=0.606735;gnomADv4_1_AF_joint_XY=0.605229;gnomADv4_1_AN_grpmax_joint=41472;gnomADv4_1_AN_joint=151926;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=29210;gnomADv4_1_nhomalt_joint_XX=14958;gnomADv4_1_nhomalt_joint_XY=14252;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27226922 chr22_27226922_T_C T C 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.051;CADD_Rawscore=-0.792327;CSQ=C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs2149019353&rs2149019355&rs2149019356&rs2149019359&rs572639|2243|-1||HGNC|HGNC:52425|3||||||||Ensembl||T|T||||chr22:g.27226922T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs2149019353&rs2149019355&rs2149019356&rs2149019359&rs572639|2170|-1||HGNC|HGNC:52425|2||||||||Ensembl||T|T||||chr22:g.27226922T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs2149019353&rs2149019355&rs2149019356&rs2149019359&rs572639|2265|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27226922T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs2149019353&rs2149019355&rs2149019356&rs2149019359&rs572639|1788|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27226922T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs2149019353&rs2149019355&rs2149019356&rs2149019359&rs572639|2199|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27226922T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs2149019353&rs2149019355&rs2149019356&rs2149019359&rs572639|2212|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27226922T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs2149019353&rs2149019355&rs2149019356&rs2149019359&rs572639|2256|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27226922T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs2149019353&rs2149019355&rs2149019356&rs2149019359&rs572639|2353|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27226922T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs2149019353&rs2149019355&rs2149019356&rs2149019359&rs572639|2257|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27226922T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs2149019353&rs2149019355&rs2149019356&rs2149019359&rs572639|2243|-1||EntrezGene|HGNC:52425|||||||||RefSeq||T|T||||chr22:g.27226922T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73397;gnomADv4_1_AC_joint_XX=37239;gnomADv4_1_AC_joint_XY=36158;gnomADv4_1_AF_grpmax_joint=0.750868;gnomADv4_1_AF_joint=0.482538;gnomADv4_1_AF_joint_XX=0.478921;gnomADv4_1_AF_joint_XY=0.486321;gnomADv4_1_AN_grpmax_joint=5186;gnomADv4_1_AN_joint=152106;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19386;gnomADv4_1_nhomalt_joint_XX=9736;gnomADv4_1_nhomalt_joint_XY=9650;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27226923 chr22_27226923_G_A G A 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.007;CADD_Rawscore=-1.37908;CSQ=A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs2149022998&rs2149023002&rs75948775|2244|-1||HGNC|HGNC:52425|3||||||||Ensembl||G|G||||chr22:g.27226923G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs2149022998&rs2149023002&rs75948775|2171|-1||HGNC|HGNC:52425|2||||||||Ensembl||G|G||||chr22:g.27226923G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs2149022998&rs2149023002&rs75948775|2266|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27226923G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs2149022998&rs2149023002&rs75948775|1789|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27226923G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs2149022998&rs2149023002&rs75948775|2200|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27226923G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs2149022998&rs2149023002&rs75948775|2213|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27226923G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs2149022998&rs2149023002&rs75948775|2257|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27226923G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs2149022998&rs2149023002&rs75948775|2354|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27226923G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs2149022998&rs2149023002&rs75948775|2258|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27226923G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs2149022998&rs2149023002&rs75948775|2244|-1||EntrezGene|HGNC:52425|||||||||RefSeq||G|G||||chr22:g.27226923G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1299;gnomADv4_1_AC_joint_XX=600;gnomADv4_1_AC_joint_XY=699;gnomADv4_1_AF_grpmax_joint=0.013278;gnomADv4_1_AF_joint=0.00852933;gnomADv4_1_AF_joint_XX=0.00770852;gnomADv4_1_AF_joint_XY=0.00938734;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152298;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4;gnomADv4_1_nhomalt_joint_XX=4;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27227367 chr22_27227367_C_T C T 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.008;CADD_Rawscore=-1.34922;CSQ=T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs2149023025&rs2149023027&rs9608591|2688|-1||HGNC|HGNC:52425|3||||||||Ensembl||C|C||||chr22:g.27227367C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs2149023025&rs2149023027&rs9608591|2615|-1||HGNC|HGNC:52425|2||||||||Ensembl||C|C||||chr22:g.27227367C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs2149023025&rs2149023027&rs9608591|2710|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27227367C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs2149023025&rs2149023027&rs9608591|2233|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27227367C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs2149023025&rs2149023027&rs9608591|2644|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27227367C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs2149023025&rs2149023027&rs9608591|2657|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27227367C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs2149023025&rs2149023027&rs9608591|2701|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27227367C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs2149023025&rs2149023027&rs9608591|2798|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27227367C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs2149023025&rs2149023027&rs9608591|2702|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27227367C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs2149023025&rs2149023027&rs9608591|2688|-1||EntrezGene|HGNC:52425|||||||||RefSeq||C|C||||chr22:g.27227367C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14432;gnomADv4_1_AC_joint_XX=7209;gnomADv4_1_AC_joint_XY=7223;gnomADv4_1_AF_grpmax_joint=0.202534;gnomADv4_1_AF_joint=0.0948725;gnomADv4_1_AF_joint_XX=0.0927417;gnomADv4_1_AF_joint_XY=0.097099;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=718;gnomADv4_1_nhomalt_joint_XX=338;gnomADv4_1_nhomalt_joint_XY=380;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27228043 chr22_27228043_G_A G A 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.19;CADD_Rawscore=0.188111;CSQ=A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs5762033|3364|-1||HGNC|HGNC:52425|3||||||||Ensembl||G|G||||chr22:g.27228043G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs5762033|3291|-1||HGNC|HGNC:52425|2||||||||Ensembl||G|G||||chr22:g.27228043G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs5762033|3386|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27228043G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs5762033|2909|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27228043G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs5762033|3320|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27228043G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs5762033|3333|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27228043G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs5762033|3377|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27228043G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs5762033|3474|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27228043G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs5762033|3378|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27228043G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs5762033|3364|-1||EntrezGene|HGNC:52425|||||||||RefSeq||G|G||||chr22:g.27228043G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11757;gnomADv4_1_AC_joint_XX=5973;gnomADv4_1_AC_joint_XY=5784;gnomADv4_1_AF_grpmax_joint=0.16101;gnomADv4_1_AF_joint=0.0772136;gnomADv4_1_AF_joint_XX=0.076756;gnomADv4_1_AF_joint_XY=0.0776918;gnomADv4_1_AN_grpmax_joint=5186;gnomADv4_1_AN_joint=152266;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=597;gnomADv4_1_nhomalt_joint_XX=296;gnomADv4_1_nhomalt_joint_XY=301;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27228386 chr22_27228386_CATTAT_C CATTAT C 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=3.405;CADDIndel_Rawscore=0.312106;CSQ=-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs146508958|3708|-1||HGNC|HGNC:52425|3||||||||Ensembl||ATTAT|ATTAT||||chr22:g.27228387_27228391del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs146508958|3635|-1||HGNC|HGNC:52425|2||||||||Ensembl||ATTAT|ATTAT||||chr22:g.27228387_27228391del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs146508958|3730|-1||HGNC|HGNC:52425|||||||||Ensembl||ATTAT|ATTAT||||chr22:g.27228387_27228391del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs146508958|3253|-1||HGNC|HGNC:52425|||||||||Ensembl||ATTAT|ATTAT||||chr22:g.27228387_27228391del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs146508958|3664|-1||HGNC|HGNC:52425|||||||||Ensembl||ATTAT|ATTAT||||chr22:g.27228387_27228391del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs146508958|3677|-1||HGNC|HGNC:52425|||||||||Ensembl||ATTAT|ATTAT||||chr22:g.27228387_27228391del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs146508958|3721|-1||HGNC|HGNC:52425|||||||||Ensembl||ATTAT|ATTAT||||chr22:g.27228387_27228391del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs146508958|3818|-1||HGNC|HGNC:52425|||||||||Ensembl||ATTAT|ATTAT||||chr22:g.27228387_27228391del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs146508958|3722|-1||HGNC|HGNC:52425|||||||||Ensembl||ATTAT|ATTAT||||chr22:g.27228387_27228391del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs146508958|3708|-1||EntrezGene|HGNC:52425|||||||||RefSeq||ATTAT|ATTAT||||chr22:g.27228387_27228391del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8548;gnomADv4_1_AC_joint_XX=4428;gnomADv4_1_AC_joint_XY=4120;gnomADv4_1_AF_grpmax_joint=0.0821918;gnomADv4_1_AF_joint=0.0561548;gnomADv4_1_AF_joint_XX=0.0569254;gnomADv4_1_AF_joint_XY=0.0553496;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152222;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=271;gnomADv4_1_nhomalt_joint_XX=126;gnomADv4_1_nhomalt_joint_XY=145;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27228414 chr22_27228414_G_T G T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.464;CADD_Rawscore=-0.21203;CSQ=T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs9608592|3735|-1||HGNC|HGNC:52425|3||||||||Ensembl||G|G||||chr22:g.27228414G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs9608592|3662|-1||HGNC|HGNC:52425|2||||||||Ensembl||G|G||||chr22:g.27228414G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs9608592|3757|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27228414G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs9608592|3280|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27228414G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs9608592|3691|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27228414G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs9608592|3704|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27228414G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs9608592|3748|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27228414G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs9608592|3845|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27228414G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs9608592|3749|-1||HGNC|HGNC:52425|||||||||Ensembl||G|G||||chr22:g.27228414G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs9608592|3735|-1||EntrezGene|HGNC:52425|||||||||RefSeq||G|G||||chr22:g.27228414G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20875;gnomADv4_1_AC_joint_XX=10637;gnomADv4_1_AC_joint_XY=10238;gnomADv4_1_AF_grpmax_joint=0.223909;gnomADv4_1_AF_joint=0.137276;gnomADv4_1_AF_joint_XX=0.136838;gnomADv4_1_AF_joint_XY=0.137733;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1572;gnomADv4_1_nhomalt_joint_XX=804;gnomADv4_1_nhomalt_joint_XY=768;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27228703 chr22_27228703_CT_C CT C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=3.118;CADDIndel_Rawscore=0.285631;CSQ=-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs143542539|4025|-1||HGNC|HGNC:52425|3||||||||Ensembl||T|T||||chr22:g.27228705del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs143542539|3952|-1||HGNC|HGNC:52425|2||||||||Ensembl||T|T||||chr22:g.27228705del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs143542539|4047|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27228705del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs143542539|3570|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27228705del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs143542539|3981|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27228705del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs143542539|3994|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27228705del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs143542539|4038|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27228705del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs143542539|4135|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27228705del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs143542539|4039|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27228705del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs143542539|4025|-1||EntrezGene|HGNC:52425|||||||||RefSeq||T|T||||chr22:g.27228705del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17076;gnomADv4_1_AC_joint_XX=9019;gnomADv4_1_AC_joint_XY=8057;gnomADv4_1_AF_grpmax_joint=0.204082;gnomADv4_1_AF_joint=0.112332;gnomADv4_1_AF_joint_XX=0.116045;gnomADv4_1_AF_joint_XY=0.108448;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1096;gnomADv4_1_nhomalt_joint_XX=592;gnomADv4_1_nhomalt_joint_XY=504;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27228928 chr22_27228928_C_T C T 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=2.408;CADD_Rawscore=0.213547;CSQ=T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs78977556|4249|-1||HGNC|HGNC:52425|3||||||||Ensembl||C|C||||chr22:g.27228928C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs78977556|4176|-1||HGNC|HGNC:52425|2||||||||Ensembl||C|C||||chr22:g.27228928C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs78977556|4271|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27228928C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs78977556|3794|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27228928C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs78977556|4205|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27228928C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs78977556|4218|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27228928C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs78977556|4262|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27228928C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs78977556|4359|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27228928C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs78977556|4263|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27228928C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs78977556|4249|-1||EntrezGene|HGNC:52425|||||||||RefSeq||C|C||||chr22:g.27228928C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8956;gnomADv4_1_AC_joint_XX=4643;gnomADv4_1_AC_joint_XY=4313;gnomADv4_1_AF_grpmax_joint=0.0884354;gnomADv4_1_AF_joint=0.0588367;gnomADv4_1_AF_joint_XX=0.0596802;gnomADv4_1_AF_joint_XY=0.0579549;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152218;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=301;gnomADv4_1_nhomalt_joint_XX=140;gnomADv4_1_nhomalt_joint_XY=161;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27229469 chr22_27229469_G_GTTTT G GTTTT 20 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=20;CADDIndel_PHREDscore=0.275;CADDIndel_Rawscore=-0.344359;CSQ=TTTT|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000418271|lncRNA||||||||||rs547693274|4790|-1||HGNC|HGNC:52425|3||||||||Ensembl|||||||chr22:g.27229492_27229495dup|||||||||||||,TTTT|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000444114|lncRNA||||||||||rs547693274|4717|-1||HGNC|HGNC:52425|2||||||||Ensembl|||||||chr22:g.27229492_27229495dup|||||||||||||,TTTT|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000650737|lncRNA||||||||||rs547693274|4812|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27229492_27229495dup|||||||||||||,TTTT|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs547693274|4335|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27229492_27229495dup|||||||||||||,TTTT|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000660027|lncRNA||||||||||rs547693274|4746|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27229492_27229495dup|||||||||||||,TTTT|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000690524|lncRNA||||||||||rs547693274|4759|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27229492_27229495dup|||||||||||||,TTTT|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805083|lncRNA||||||||||rs547693274|4803|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27229492_27229495dup|||||||||||||,TTTT|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805086|lncRNA||||||||||rs547693274|4900|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27229492_27229495dup|||||||||||||,TTTT|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000805088|lncRNA||||||||||rs547693274|4804|-1||HGNC|HGNC:52425|||||||||Ensembl|||||||chr22:g.27229492_27229495dup|||||||||||||,TTTT|upstream_gene_variant|MODIFIER|LINC01638|105372978|Transcript|NR_171021.1|lncRNA||||||||||rs547693274|4790|-1||EntrezGene|HGNC:52425|||||||||RefSeq|||||||chr22:g.27229492_27229495dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT;VEP_Feature=ENST00000418271,ENST00000444114,ENST00000650737,ENST00000659538,ENST00000660027,ENST00000690524,ENST00000805083,ENST00000805086,ENST00000805088,NR_171021.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,ENSG00000233521,105372978;VEP_SYMBOL=LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638,LINC01638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8927;gnomADv4_1_AC_joint_XX=5204;gnomADv4_1_AC_joint_XY=3723;gnomADv4_1_AF_grpmax_joint=0.148084;gnomADv4_1_AF_joint=0.112971;gnomADv4_1_AF_joint_XX=0.120866;gnomADv4_1_AF_joint_XY=0.10352;gnomADv4_1_AN_grpmax_joint=41848;gnomADv4_1_AN_joint=79020;gnomADv4_1_AN_joint_XX=43056;gnomADv4_1_AN_joint_XY=35964;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1707;gnomADv4_1_nhomalt_joint_XX=1004;gnomADv4_1_nhomalt_joint_XY=703;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27229759 chr22_27229759_C_T C T 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=2.068;CADD_Rawscore=0.172776;CSQ=T|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs5752506|4625|-1||HGNC|HGNC:52425|||||||||Ensembl||C|C||||chr22:g.27229759C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000659538;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000233521;VEP_SYMBOL=LINC01638;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=11716;gnomADv4_1_AC_joint_XX=5949;gnomADv4_1_AC_joint_XY=5767;gnomADv4_1_AF_grpmax_joint=0.157701;gnomADv4_1_AF_joint=0.0770313;gnomADv4_1_AF_joint_XX=0.0765007;gnomADv4_1_AF_joint_XY=0.0775864;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=585;gnomADv4_1_nhomalt_joint_XX=289;gnomADv4_1_nhomalt_joint_XY=296;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27229913 chr22_27229913_T_A T A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.905;CADD_Rawscore=0.265241;CSQ=A|upstream_gene_variant|MODIFIER|LINC01638|ENSG00000233521|Transcript|ENST00000659538|lncRNA||||||||||rs5997202|4779|-1||HGNC|HGNC:52425|||||||||Ensembl||T|T||||chr22:g.27229913T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000659538;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000233521;VEP_SYMBOL=LINC01638;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=18564;gnomADv4_1_AC_joint_XX=9844;gnomADv4_1_AC_joint_XY=8720;gnomADv4_1_AF_grpmax_joint=0.204082;gnomADv4_1_AF_joint=0.121989;gnomADv4_1_AF_joint_XX=0.126588;gnomADv4_1_AF_joint_XY=0.117182;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152178;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1235;gnomADv4_1_nhomalt_joint_XX=663;gnomADv4_1_nhomalt_joint_XY=572;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27230307 chr22_27230307_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=2.707;CADD_Rawscore=0.245486;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs738489|||||||||||||||||||||chr22:g.27230307C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=541;gnomADv4_1_AC_joint_XX=268;gnomADv4_1_AC_joint_XY=273;gnomADv4_1_AF_grpmax_joint=0.00474818;gnomADv4_1_AF_joint=0.00355248;gnomADv4_1_AF_joint_XX=0.00344367;gnomADv4_1_AF_joint_XY=0.0036662;gnomADv4_1_AN_grpmax_joint=68026;gnomADv4_1_AN_joint=152288;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74464;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27230943 chr22_27230943_C_T C T 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=4.182;CADD_Rawscore=0.381391;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs117159323|||||||||||||||||||||chr22:g.27230943C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=14228;gnomADv4_1_AC_joint_XX=7293;gnomADv4_1_AC_joint_XY=6935;gnomADv4_1_AF_grpmax_joint=0.16068;gnomADv4_1_AF_joint=0.0935068;gnomADv4_1_AF_joint_XX=0.09375;gnomADv4_1_AF_joint_XY=0.0932525;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=829;gnomADv4_1_nhomalt_joint_XX=428;gnomADv4_1_nhomalt_joint_XY=401;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27230944 chr22_27230944_A_G A G 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.31;CADD_Rawscore=-0.313807;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4822863|||||||||||||||||||||chr22:g.27230944A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=42738;gnomADv4_1_AC_joint_XX=21519;gnomADv4_1_AC_joint_XY=21219;gnomADv4_1_AF_grpmax_joint=0.664599;gnomADv4_1_AF_joint=0.280946;gnomADv4_1_AF_joint_XX=0.27675;gnomADv4_1_AF_joint_XY=0.285332;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6414;gnomADv4_1_nhomalt_joint_XX=3180;gnomADv4_1_nhomalt_joint_XY=3234;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27230957 chr22_27230957_CTT_C CTT C 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.702;CADDIndel_Rawscore=-0.108363;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs144488002|||||||||||||||||||||chr22:g.27230962_27230963del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=11799;gnomADv4_1_AC_joint_XX=6003;gnomADv4_1_AC_joint_XY=5796;gnomADv4_1_AF_grpmax_joint=0.157121;gnomADv4_1_AF_joint=0.0775271;gnomADv4_1_AF_joint_XX=0.0771554;gnomADv4_1_AF_joint_XY=0.0779158;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152192;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=584;gnomADv4_1_nhomalt_joint_XX=289;gnomADv4_1_nhomalt_joint_XY=295;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27231355 chr22_27231355_T_C T C 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.402;CADD_Rawscore=0.212867;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs497856|||||||||||||||||||||chr22:g.27231355T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=96818;gnomADv4_1_AC_joint_XX=49703;gnomADv4_1_AC_joint_XY=47115;gnomADv4_1_AF_grpmax_joint=0.764267;gnomADv4_1_AF_joint=0.637204;gnomADv4_1_AF_joint_XX=0.639662;gnomADv4_1_AF_joint_XY=0.634631;gnomADv4_1_AN_grpmax_joint=41424;gnomADv4_1_AN_joint=151942;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31477;gnomADv4_1_nhomalt_joint_XX=16195;gnomADv4_1_nhomalt_joint_XY=15282;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27231455 chr22_27231455_T_C T C 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.055;CADD_Rawscore=-0.775475;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs498789|||||||||||||||||||||chr22:g.27231455T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=50677;gnomADv4_1_AC_joint_XX=25739;gnomADv4_1_AC_joint_XY=24938;gnomADv4_1_AF_grpmax_joint=0.664474;gnomADv4_1_AF_joint=0.333222;gnomADv4_1_AF_joint_XX=0.331133;gnomADv4_1_AF_joint_XY=0.335405;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9099;gnomADv4_1_nhomalt_joint_XX=4634;gnomADv4_1_nhomalt_joint_XY=4465;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27231637 chr22_27231637_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.557;CADD_Rawscore=0.097961;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs10483132|||||||||||||||||||||chr22:g.27231637C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=18176;gnomADv4_1_AC_joint_XX=9635;gnomADv4_1_AC_joint_XY=8541;gnomADv4_1_AF_grpmax_joint=0.204082;gnomADv4_1_AF_joint=0.119439;gnomADv4_1_AF_joint_XX=0.123875;gnomADv4_1_AF_joint_XY=0.114801;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152178;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1193;gnomADv4_1_nhomalt_joint_XX=641;gnomADv4_1_nhomalt_joint_XY=552;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27232190 chr22_27232190_G_C G C 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=4.458;CADD_Rawscore=0.406092;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs546339|||||||||||||||||||||chr22:g.27232190G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=97485;gnomADv4_1_AC_joint_XX=50017;gnomADv4_1_AC_joint_XY=47468;gnomADv4_1_AF_grpmax_joint=0.777714;gnomADv4_1_AF_joint=0.641374;gnomADv4_1_AF_joint_XX=0.643471;gnomADv4_1_AF_joint_XY=0.639179;gnomADv4_1_AN_grpmax_joint=41496;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31969;gnomADv4_1_nhomalt_joint_XX=16418;gnomADv4_1_nhomalt_joint_XY=15551;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27232570 chr22_27232570_G_A G A 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.74;CADD_Rawscore=0.127183;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs74678392|||||||||||||||||||||chr22:g.27232570G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=11483;gnomADv4_1_AC_joint_XX=5825;gnomADv4_1_AC_joint_XY=5658;gnomADv4_1_AF_grpmax_joint=0.158159;gnomADv4_1_AF_joint=0.0754507;gnomADv4_1_AF_joint_XX=0.0748792;gnomADv4_1_AF_joint_XY=0.0760484;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152192;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=558;gnomADv4_1_nhomalt_joint_XX=279;gnomADv4_1_nhomalt_joint_XY=279;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27233199 chr22_27233199_C_CT C CT 51 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=2.543;CADDIndel_Rawscore=0.228337;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs59760338|||||||||||||||||||||chr22:g.27233205dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=97819;gnomADv4_1_AC_joint_XX=50222;gnomADv4_1_AC_joint_XY=47597;gnomADv4_1_AF_grpmax_joint=0.784429;gnomADv4_1_AF_joint=0.643699;gnomADv4_1_AF_joint_XX=0.646191;gnomADv4_1_AF_joint_XY=0.641089;gnomADv4_1_AN_grpmax_joint=41448;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74244;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=32233;gnomADv4_1_nhomalt_joint_XX=16581;gnomADv4_1_nhomalt_joint_XY=15652;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27233234 chr22_27233234_G_C G C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=8.714;CADD_Rawscore=0.844694;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs143050806|||||||||||||||||||||chr22:g.27233234G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=9006;gnomADv4_1_AC_joint_XX=4678;gnomADv4_1_AC_joint_XY=4328;gnomADv4_1_AF_grpmax_joint=0.0918367;gnomADv4_1_AF_joint=0.0591729;gnomADv4_1_AF_joint_XX=0.060127;gnomADv4_1_AF_joint_XY=0.0581752;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=307;gnomADv4_1_nhomalt_joint_XX=144;gnomADv4_1_nhomalt_joint_XY=163;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27233330 chr22_27233330_T_A T A 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.267;CADD_Rawscore=0.043877;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs549204|||||||||||||||||||||chr22:g.27233330T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=97893;gnomADv4_1_AC_joint_XX=50240;gnomADv4_1_AC_joint_XY=47653;gnomADv4_1_AF_grpmax_joint=0.786159;gnomADv4_1_AF_joint=0.644177;gnomADv4_1_AF_joint_XX=0.646723;gnomADv4_1_AF_joint_XY=0.641515;gnomADv4_1_AN_grpmax_joint=41442;gnomADv4_1_AN_joint=151966;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=32304;gnomADv4_1_nhomalt_joint_XX=16615;gnomADv4_1_nhomalt_joint_XY=15689;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27234669 chr22_27234669_G_T G T 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADD_PHREDscore=2.052;CADD_Rawscore=0.170728;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs117927030|||||||||||||||||||||chr22:g.27234669G>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=11345;gnomADv4_1_AC_joint_XX=5738;gnomADv4_1_AC_joint_XY=5607;gnomADv4_1_AF_grpmax_joint=0.15824;gnomADv4_1_AF_joint=0.0745048;gnomADv4_1_AF_joint_XX=0.0737286;gnomADv4_1_AF_joint_XY=0.0753163;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152272;gnomADv4_1_AN_joint_XX=77826;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=552;gnomADv4_1_nhomalt_joint_XX=275;gnomADv4_1_nhomalt_joint_XY=277;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27235013 chr22_27235013_G_A G A 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=29;CADD_PHREDscore=1.206;CADD_Rawscore=0.030965;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs117411271|||||||||||||||||||||chr22:g.27235013G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=2362;gnomADv4_1_AC_joint_XX=1249;gnomADv4_1_AC_joint_XY=1113;gnomADv4_1_AF_grpmax_joint=0.0272109;gnomADv4_1_AF_joint=0.0155172;gnomADv4_1_AF_joint_XX=0.0160552;gnomADv4_1_AF_joint_XY=0.0149549;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152218;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=16;gnomADv4_1_nhomalt_joint_XX=4;gnomADv4_1_nhomalt_joint_XY=12;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27235548 chr22_27235548_C_T C T 55 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.23;CADD_Rawscore=-0.390113;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs150132506|||||||||||||||||||||chr22:g.27235548C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=11446;gnomADv4_1_AC_joint_XX=5809;gnomADv4_1_AC_joint_XY=5637;gnomADv4_1_AF_grpmax_joint=0.158262;gnomADv4_1_AF_joint=0.0752353;gnomADv4_1_AF_joint_XX=0.0747004;gnomADv4_1_AF_joint_XY=0.0757947;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=549;gnomADv4_1_nhomalt_joint_XX=278;gnomADv4_1_nhomalt_joint_XY=271;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27235589 chr22_27235589_A_G A G 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.986;CADD_Rawscore=-0.02147;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs1052068035|||||||||||||||||||||chr22:g.27235589A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=5;gnomADv4_1_AC_joint_XX=2;gnomADv4_1_AC_joint_XY=3;gnomADv4_1_AF_grpmax_joint=1.46994e-05;gnomADv4_1_AF_joint=3.28519e-05;gnomADv4_1_AF_joint_XX=2.56911e-05;gnomADv4_1_AF_joint_XY=4.03497e-05;gnomADv4_1_AN_grpmax_joint=68030;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77848;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27235820 chr22_27235820_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.45;CADD_Rawscore=-0.21959;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs9613408|||||||||||||||||||||chr22:g.27235820G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=39766;gnomADv4_1_AC_joint_XX=20669;gnomADv4_1_AC_joint_XY=19097;gnomADv4_1_AF_grpmax_joint=0.401361;gnomADv4_1_AF_joint=0.261532;gnomADv4_1_AF_joint_XX=0.265853;gnomADv4_1_AF_joint_XY=0.257012;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5521;gnomADv4_1_nhomalt_joint_XX=2926;gnomADv4_1_nhomalt_joint_XY=2595;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27236457 chr22_27236457_A_G A G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.161;CADD_Rawscore=-0.48351;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5762040|||||||||||||||||||||chr22:g.27236457A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=11573;gnomADv4_1_AC_joint_XX=5878;gnomADv4_1_AC_joint_XY=5695;gnomADv4_1_AF_grpmax_joint=0.160425;gnomADv4_1_AF_joint=0.0760071;gnomADv4_1_AF_joint_XX=0.075543;gnomADv4_1_AF_joint_XY=0.0764922;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152262;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=565;gnomADv4_1_nhomalt_joint_XX=284;gnomADv4_1_nhomalt_joint_XY=281;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27236553 chr22_27236553_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.735;CADD_Rawscore=-0.096635;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs75298264|||||||||||||||||||||chr22:g.27236553G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=17084;gnomADv4_1_AC_joint_XX=9036;gnomADv4_1_AC_joint_XY=8048;gnomADv4_1_AF_grpmax_joint=0.204082;gnomADv4_1_AF_joint=0.112244;gnomADv4_1_AF_joint_XX=0.116162;gnomADv4_1_AF_joint_XY=0.108149;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152204;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1097;gnomADv4_1_nhomalt_joint_XX=593;gnomADv4_1_nhomalt_joint_XY=504;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27236914 chr22_27236914_G_GA G GA 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.217;CADDIndel_Rawscore=-0.405071;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs35238214|||||||||||||||||||||chr22:g.27236923dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=13710;gnomADv4_1_AC_joint_XX=6959;gnomADv4_1_AC_joint_XY=6751;gnomADv4_1_AF_grpmax_joint=0.181125;gnomADv4_1_AF_joint=0.0907118;gnomADv4_1_AF_joint_XX=0.0899793;gnomADv4_1_AF_joint_XY=0.0914794;gnomADv4_1_AN_grpmax_joint=5118;gnomADv4_1_AN_joint=151138;gnomADv4_1_AN_joint_XX=77340;gnomADv4_1_AN_joint_XY=73798;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=674;gnomADv4_1_nhomalt_joint_XX=328;gnomADv4_1_nhomalt_joint_XY=346;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27237028 chr22_27237028_A_C A C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.313;CADD_Rawscore=-0.311532;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs74699079|||||||||||||||||||||chr22:g.27237028A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=3547;gnomADv4_1_AC_joint_XX=1838;gnomADv4_1_AC_joint_XY=1709;gnomADv4_1_AF_grpmax_joint=0.0349374;gnomADv4_1_AF_joint=0.0232825;gnomADv4_1_AF_joint_XX=0.0236089;gnomADv4_1_AF_joint_XY=0.0229414;gnomADv4_1_AN_grpmax_joint=68036;gnomADv4_1_AN_joint=152346;gnomADv4_1_AN_joint_XX=77852;gnomADv4_1_AN_joint_XY=74494;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=64;gnomADv4_1_nhomalt_joint_XX=31;gnomADv4_1_nhomalt_joint_XY=33;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27237556 chr22_27237556_A_G A G 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=11.17;CADD_Rawscore=1.07851;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs479694|||||||||||||||||||||chr22:g.27237556A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38232;gnomADv4_1_AC_joint_XX=19434;gnomADv4_1_AC_joint_XY=18798;gnomADv4_1_AF_grpmax_joint=0.410202;gnomADv4_1_AF_joint=0.25143;gnomADv4_1_AF_joint_XX=0.250122;gnomADv4_1_AF_joint_XY=0.252797;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5498;gnomADv4_1_nhomalt_joint_XX=2752;gnomADv4_1_nhomalt_joint_XY=2746;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27238269 chr22_27238269_C_T C T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.11;CADD_Rawscore=-0.585446;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs475218|||||||||||||||||||||chr22:g.27238269C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=145884;gnomADv4_1_AC_joint_XX=74697;gnomADv4_1_AC_joint_XY=71187;gnomADv4_1_AF_grpmax_joint=0.998836;gnomADv4_1_AF_joint=0.959246;gnomADv4_1_AF_joint_XX=0.96098;gnomADv4_1_AF_joint_XY=0.957432;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70039;gnomADv4_1_nhomalt_joint_XX=35920;gnomADv4_1_nhomalt_joint_XY=34119;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27238838 chr22_27238838_G_C G C 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.052;CADD_Rawscore=-0.004741;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs512856|||||||||||||||||||||chr22:g.27238838G>C|||1||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=48654;gnomADv4_1_AC_joint_XX=24563;gnomADv4_1_AC_joint_XY=24091;gnomADv4_1_AF_grpmax_joint=0.661765;gnomADv4_1_AF_joint=0.319932;gnomADv4_1_AF_joint_XX=0.31602;gnomADv4_1_AF_joint_XY=0.324022;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8527;gnomADv4_1_nhomalt_joint_XX=4254;gnomADv4_1_nhomalt_joint_XY=4273;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27239040 chr22_27239040_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.372;CADD_Rawscore=0.064658;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4NZF|enhancer||||||||||rs9613409|||||||||||||||||||||chr22:g.27239040T>C|||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs9613409|||||||||||||||||||||chr22:g.27239040T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENSR22_C4NZF,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=21073;gnomADv4_1_AC_joint_XX=10684;gnomADv4_1_AC_joint_XY=10389;gnomADv4_1_AF_grpmax_joint=0.221277;gnomADv4_1_AF_joint=0.138421;gnomADv4_1_AF_joint_XX=0.137298;gnomADv4_1_AF_joint_XY=0.139596;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1567;gnomADv4_1_nhomalt_joint_XX=779;gnomADv4_1_nhomalt_joint_XY=788;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27239302 chr22_27239302_G_A G A 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.14;CADD_Rawscore=-0.521746;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4NZF|enhancer||||||||||rs13057983|||||||||||||||||||||chr22:g.27239302G>A|||||||||||||,A|intergenic_variant|MODIFIER|||||||||||||||rs13057983|||||||||||||||||||||chr22:g.27239302G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENSR22_C4NZF,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=4710;gnomADv4_1_AC_joint_XX=2404;gnomADv4_1_AC_joint_XY=2306;gnomADv4_1_AF_grpmax_joint=0.0459263;gnomADv4_1_AF_joint=0.030927;gnomADv4_1_AF_joint_XX=0.0308847;gnomADv4_1_AF_joint_XY=0.0309713;gnomADv4_1_AN_grpmax_joint=68022;gnomADv4_1_AN_joint=152294;gnomADv4_1_AN_joint_XX=77838;gnomADv4_1_AN_joint_XY=74456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=112;gnomADv4_1_nhomalt_joint_XX=60;gnomADv4_1_nhomalt_joint_XY=52;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27240188 chr22_27240188_A_G A G 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.351;CADD_Rawscore=-0.282383;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5762041|||||||||||||||||||||chr22:g.27240188A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=11800;gnomADv4_1_AC_joint_XX=6089;gnomADv4_1_AC_joint_XY=5711;gnomADv4_1_AF_grpmax_joint=0.144101;gnomADv4_1_AF_joint=0.077551;gnomADv4_1_AF_joint_XX=0.078293;gnomADv4_1_AF_joint_XY=0.0767752;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=531;gnomADv4_1_nhomalt_joint_XX=269;gnomADv4_1_nhomalt_joint_XY=262;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27245365 chr22_27245365_C_T C T 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=7.047;CADD_Rawscore=0.663143;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs55978220|||||||||||||||||||||chr22:g.27245365C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=5173;gnomADv4_1_AC_joint_XX=2668;gnomADv4_1_AC_joint_XY=2505;gnomADv4_1_AF_grpmax_joint=0.0503867;gnomADv4_1_AF_joint=0.0339824;gnomADv4_1_AF_joint_XX=0.0342931;gnomADv4_1_AF_joint_XY=0.0336576;gnomADv4_1_AN_grpmax_joint=68014;gnomADv4_1_AN_joint=152226;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=133;gnomADv4_1_nhomalt_joint_XX=58;gnomADv4_1_nhomalt_joint_XY=75;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27246957 chr22_27246957_A_G A G 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.783;CADD_Rawscore=-0.08051;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs7289336|||||||||||||||||||||chr22:g.27246957A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=9046;gnomADv4_1_AC_joint_XX=4601;gnomADv4_1_AC_joint_XY=4445;gnomADv4_1_AF_grpmax_joint=0.0950824;gnomADv4_1_AF_joint=0.0593998;gnomADv4_1_AF_joint_XX=0.0591297;gnomADv4_1_AF_joint_XY=0.0596821;gnomADv4_1_AN_grpmax_joint=15292;gnomADv4_1_AN_joint=152290;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=385;gnomADv4_1_nhomalt_joint_XX=200;gnomADv4_1_nhomalt_joint_XY=185;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27248932 chr22_27248932_G_A G A 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=3.827;CADD_Rawscore=0.349839;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs78355055|||||||||||||||||||||chr22:g.27248932G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=8395;gnomADv4_1_AC_joint_XX=4120;gnomADv4_1_AC_joint_XY=4275;gnomADv4_1_AF_grpmax_joint=0.133333;gnomADv4_1_AF_joint=0.055162;gnomADv4_1_AF_joint_XX=0.0529726;gnomADv4_1_AF_joint_XY=0.0574504;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152188;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=345;gnomADv4_1_nhomalt_joint_XX=186;gnomADv4_1_nhomalt_joint_XY=159;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27248988 chr22_27248988_A_G A G 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.022;CADD_Rawscore=-1.03634;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs552212|||||||||||||||||||||chr22:g.27248988A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=125076;gnomADv4_1_AC_joint_XX=63937;gnomADv4_1_AC_joint_XY=61139;gnomADv4_1_AF_grpmax_joint=0.946311;gnomADv4_1_AF_joint=0.822933;gnomADv4_1_AF_joint_XX=0.822552;gnomADv4_1_AF_joint_XY=0.823332;gnomADv4_1_AN_grpmax_joint=41480;gnomADv4_1_AN_joint=151988;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=52173;gnomADv4_1_nhomalt_joint_XX=26686;gnomADv4_1_nhomalt_joint_XY=25487;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27249199 chr22_27249199_CCAGGCAT_C CCAGGCAT C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=2.897;CADDIndel_Rawscore=0.264527;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs66846338|||||||||||||||||||||chr22:g.27249202_27249208del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=40943;gnomADv4_1_AC_joint_XX=21079;gnomADv4_1_AC_joint_XY=19864;gnomADv4_1_AF_grpmax_joint=0.325843;gnomADv4_1_AF_joint=0.270436;gnomADv4_1_AF_joint_XX=0.272205;gnomADv4_1_AF_joint_XY=0.268585;gnomADv4_1_AN_grpmax_joint=67732;gnomADv4_1_AN_joint=151396;gnomADv4_1_AN_joint_XX=77438;gnomADv4_1_AN_joint_XY=73958;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5947;gnomADv4_1_nhomalt_joint_XX=3060;gnomADv4_1_nhomalt_joint_XY=2887;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27249297 chr22_27249297_C_T C T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.17;CADD_Rawscore=-0.469735;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs549378|||||||||||||||||||||chr22:g.27249297C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=125419;gnomADv4_1_AC_joint_XX=63984;gnomADv4_1_AC_joint_XY=61435;gnomADv4_1_AF_grpmax_joint=0.933454;gnomADv4_1_AF_joint=0.825473;gnomADv4_1_AF_joint_XX=0.823072;gnomADv4_1_AF_joint_XY=0.827987;gnomADv4_1_AN_grpmax_joint=41490;gnomADv4_1_AN_joint=151936;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74198;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=52262;gnomADv4_1_nhomalt_joint_XX=26602;gnomADv4_1_nhomalt_joint_XY=25660;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27249903 chr22_27249903_C_T C T 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.71;CADD_Rawscore=-0.105391;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs549141|||||||||||||||||||||chr22:g.27249903C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=124339;gnomADv4_1_AC_joint_XX=63453;gnomADv4_1_AC_joint_XY=60886;gnomADv4_1_AF_grpmax_joint=0.94962;gnomADv4_1_AF_joint=0.817439;gnomADv4_1_AF_joint_XX=0.815864;gnomADv4_1_AF_joint_XY=0.819087;gnomADv4_1_AN_grpmax_joint=41544;gnomADv4_1_AN_joint=152108;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=51525;gnomADv4_1_nhomalt_joint_XX=26284;gnomADv4_1_nhomalt_joint_XY=25241;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27250161 chr22_27250161_G_GAA G GAA 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=27;CADDIndel_PHREDscore=1.373;CADDIndel_Rawscore=0.064949;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||rs11410269|||||||||||||||||||||chr22:g.27250177_27250178dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=22891;gnomADv4_1_AC_joint_XX=12107;gnomADv4_1_AC_joint_XY=10784;gnomADv4_1_AF_grpmax_joint=0.306334;gnomADv4_1_AF_joint=0.200411;gnomADv4_1_AF_joint_XX=0.200083;gnomADv4_1_AF_joint_XY=0.200782;gnomADv4_1_AN_grpmax_joint=32778;gnomADv4_1_AN_joint=114220;gnomADv4_1_AN_joint_XX=60510;gnomADv4_1_AN_joint_XY=53710;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2687;gnomADv4_1_nhomalt_joint_XX=1362;gnomADv4_1_nhomalt_joint_XY=1325;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27250306 chr22_27250306_T_A T A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.094;CADD_Rawscore=-0.626746;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs766073181|||||||||||||||||||||chr22:g.27250306T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=87;gnomADv4_1_AC_joint_XX=35;gnomADv4_1_AC_joint_XY=52;gnomADv4_1_AF_grpmax_joint=0.000719048;gnomADv4_1_AF_joint=0.000571211;gnomADv4_1_AF_joint_XX=0.000449721;gnomADv4_1_AF_joint_XY=0.000698155;gnomADv4_1_AN_grpmax_joint=15298;gnomADv4_1_AN_joint=152308;gnomADv4_1_AN_joint_XX=77826;gnomADv4_1_AN_joint_XY=74482;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27250415 chr22_27250415_A_T A T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.981;CADD_Rawscore=-0.022903;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs518180|||||||||||||||||||||chr22:g.27250415A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=124231;gnomADv4_1_AC_joint_XX=63397;gnomADv4_1_AC_joint_XY=60834;gnomADv4_1_AF_grpmax_joint=0.949776;gnomADv4_1_AF_joint=0.817514;gnomADv4_1_AF_joint_XX=0.815836;gnomADv4_1_AF_joint_XY=0.819269;gnomADv4_1_AN_grpmax_joint=41494;gnomADv4_1_AN_joint=151962;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=51487;gnomADv4_1_nhomalt_joint_XX=26262;gnomADv4_1_nhomalt_joint_XY=25225;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27250621 chr22_27250621_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.629;CADD_Rawscore=-0.13581;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs9613411|||||||||||||||||||||chr22:g.27250621C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43932;gnomADv4_1_AC_joint_XX=22671;gnomADv4_1_AC_joint_XY=21261;gnomADv4_1_AF_grpmax_joint=0.343571;gnomADv4_1_AF_joint=0.289506;gnomADv4_1_AF_joint_XX=0.292047;gnomADv4_1_AF_joint_XY=0.286846;gnomADv4_1_AN_grpmax_joint=67884;gnomADv4_1_AN_joint=151748;gnomADv4_1_AN_joint_XX=77628;gnomADv4_1_AN_joint_XY=74120;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6811;gnomADv4_1_nhomalt_joint_XX=3533;gnomADv4_1_nhomalt_joint_XY=3278;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27250908 chr22_27250908_C_A C A 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.055;CADD_Rawscore=-0.775556;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs513651|||||||||||||||||||||chr22:g.27250908C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=112531;gnomADv4_1_AC_joint_XX=57343;gnomADv4_1_AC_joint_XY=55188;gnomADv4_1_AF_grpmax_joint=0.851147;gnomADv4_1_AF_joint=0.740384;gnomADv4_1_AF_joint_XX=0.737929;gnomADv4_1_AF_joint_XY=0.742953;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=42030;gnomADv4_1_nhomalt_joint_XX=21387;gnomADv4_1_nhomalt_joint_XY=20643;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27251543 chr22_27251543_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.112;CADD_Rawscore=-0.580982;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs738488|||||||||||||||||||||chr22:g.27251543G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=13314;gnomADv4_1_AC_joint_XX=6852;gnomADv4_1_AC_joint_XY=6462;gnomADv4_1_AF_grpmax_joint=0.19881;gnomADv4_1_AF_joint=0.0874563;gnomADv4_1_AF_joint_XX=0.0880856;gnomADv4_1_AF_joint_XY=0.0867988;gnomADv4_1_AN_grpmax_joint=15296;gnomADv4_1_AN_joint=152236;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=805;gnomADv4_1_nhomalt_joint_XX=391;gnomADv4_1_nhomalt_joint_XY=414;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27252230 chr22_27252230_A_C A C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.176;CADD_Rawscore=-0.46117;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4822866|||||||||||||||||||||chr22:g.27252230A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=14194;gnomADv4_1_AC_joint_XX=7307;gnomADv4_1_AC_joint_XY=6887;gnomADv4_1_AF_grpmax_joint=0.201441;gnomADv4_1_AF_joint=0.0932478;gnomADv4_1_AF_joint_XX=0.0939493;gnomADv4_1_AF_joint_XY=0.092515;gnomADv4_1_AN_grpmax_joint=15270;gnomADv4_1_AN_joint=152218;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=878;gnomADv4_1_nhomalt_joint_XX=432;gnomADv4_1_nhomalt_joint_XY=446;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27252447 chr22_27252447_G_C G C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.072;CADD_Rawscore=-0.700589;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DS3J|enhancer||||||||||rs558900|||||||||||||||||||||chr22:g.27252447G>C|||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs558900|||||||||||||||||||||chr22:g.27252447G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENSR22_9DS3J,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=47029;gnomADv4_1_AC_joint_XX=24056;gnomADv4_1_AC_joint_XY=22973;gnomADv4_1_AF_grpmax_joint=0.477878;gnomADv4_1_AF_joint=0.309275;gnomADv4_1_AF_joint_XX=0.309505;gnomADv4_1_AF_joint_XY=0.309034;gnomADv4_1_AN_grpmax_joint=41452;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8681;gnomADv4_1_nhomalt_joint_XX=4398;gnomADv4_1_nhomalt_joint_XY=4283;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27253743 chr22_27253743_A_G A G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.16;CADD_Rawscore=0.184427;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4410|||||||||||||||||||||chr22:g.27253743A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43853;gnomADv4_1_AC_joint_XX=22669;gnomADv4_1_AC_joint_XY=21184;gnomADv4_1_AF_grpmax_joint=0.323129;gnomADv4_1_AF_joint=0.288469;gnomADv4_1_AF_joint_XX=0.291788;gnomADv4_1_AF_joint_XY=0.284999;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6596;gnomADv4_1_nhomalt_joint_XX=3454;gnomADv4_1_nhomalt_joint_XY=3142;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27254289 chr22_27254289_T_C T C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=5.709;CADD_Rawscore=0.524047;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs134776|4758|1||||||||||||Ensembl||T|T||||chr22:g.27254289T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=48929;gnomADv4_1_AC_joint_XX=25149;gnomADv4_1_AC_joint_XY=23780;gnomADv4_1_AF_grpmax_joint=0.408163;gnomADv4_1_AF_joint=0.321732;gnomADv4_1_AF_joint_XX=0.323518;gnomADv4_1_AF_joint_XY=0.319864;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8480;gnomADv4_1_nhomalt_joint_XX=4402;gnomADv4_1_nhomalt_joint_XY=4078;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27254459 chr22_27254459_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.272;CADD_Rawscore=0.044922;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs134777|4588|1||||||||||||Ensembl||T|T||||chr22:g.27254459T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=94554;gnomADv4_1_AC_joint_XX=48717;gnomADv4_1_AC_joint_XY=45837;gnomADv4_1_AF_grpmax_joint=0.751701;gnomADv4_1_AF_joint=0.626941;gnomADv4_1_AF_joint_XX=0.63082;gnomADv4_1_AF_joint_XY=0.62287;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=150818;gnomADv4_1_AN_joint_XX=77228;gnomADv4_1_AN_joint_XY=73590;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31040;gnomADv4_1_nhomalt_joint_XX=16087;gnomADv4_1_nhomalt_joint_XY=14953;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27254508 chr22_27254508_C_T C T 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.75;AF_XX=.;AF_XY=0.75;AN=4;AN_XX=0;AN_XY=4;AQ=48;CADD_PHREDscore=3.354;CADD_Rawscore=0.307528;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs134778|4539|1||||||||||||Ensembl||C|C||||chr22:g.27254508C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=47136;gnomADv4_1_AC_joint_XX=24498;gnomADv4_1_AC_joint_XY=22638;gnomADv4_1_AF_grpmax_joint=0.39717;gnomADv4_1_AF_joint=0.319644;gnomADv4_1_AF_joint_XX=0.322308;gnomADv4_1_AF_joint_XY=0.31681;gnomADv4_1_AN_grpmax_joint=14772;gnomADv4_1_AN_joint=147464;gnomADv4_1_AN_joint_XX=76008;gnomADv4_1_AN_joint_XY=71456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=8160;gnomADv4_1_nhomalt_joint_XX=4292;gnomADv4_1_nhomalt_joint_XY=3868;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27254544 chr22_27254544_GA_G GA G 49 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=1.279;CADDIndel_Rawscore=0.046327;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs134779|4502|1||||||||||||Ensembl||A|A||||chr22:g.27254561del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=56368;gnomADv4_1_AC_joint_XX=31254;gnomADv4_1_AC_joint_XY=25114;gnomADv4_1_AF_grpmax_joint=0.728814;gnomADv4_1_AF_joint=0.610347;gnomADv4_1_AF_joint_XX=0.619578;gnomADv4_1_AF_joint_XY=0.599236;gnomADv4_1_AN_grpmax_joint=118;gnomADv4_1_AN_joint=92354;gnomADv4_1_AN_joint_XX=50444;gnomADv4_1_AN_joint_XY=41910;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=15572;gnomADv4_1_nhomalt_joint_XX=8762;gnomADv4_1_nhomalt_joint_XY=6810;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27254603 chr22_27254603_C_T C T 44 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.047;CADD_Rawscore=-0.814721;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs134780|4444|1||||||||||||Ensembl||C|C||||chr22:g.27254603C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=83059;gnomADv4_1_AC_joint_XX=43862;gnomADv4_1_AC_joint_XY=39197;gnomADv4_1_AF_grpmax_joint=0.65864;gnomADv4_1_AF_joint=0.597684;gnomADv4_1_AF_joint_XX=0.602815;gnomADv4_1_AF_joint_XY=0.592046;gnomADv4_1_AN_grpmax_joint=66282;gnomADv4_1_AN_joint=138968;gnomADv4_1_AN_joint_XX=72762;gnomADv4_1_AN_joint_XY=66206;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25159;gnomADv4_1_nhomalt_joint_XX=13375;gnomADv4_1_nhomalt_joint_XY=11784;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27254606 chr22_27254606_AT_A AT A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=0.398;CADDIndel_Rawscore=-0.250486;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs34360234|4440|1||||||||||||Ensembl||T|T||||chr22:g.27254622del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=44230;gnomADv4_1_AC_joint_XX=23331;gnomADv4_1_AC_joint_XY=20899;gnomADv4_1_AF_grpmax_joint=0.352;gnomADv4_1_AF_joint=0.325029;gnomADv4_1_AF_joint_XX=0.328217;gnomADv4_1_AF_joint_XY=0.321543;gnomADv4_1_AN_grpmax_joint=250;gnomADv4_1_AN_joint=136080;gnomADv4_1_AN_joint_XX=71084;gnomADv4_1_AN_joint_XY=64996;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6978;gnomADv4_1_nhomalt_joint_XX=3688;gnomADv4_1_nhomalt_joint_XY=3290;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27254818 chr22_27254818_C_T C T 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.743;CADD_Rawscore=-0.093777;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs134781|4229|1||||||||||||Ensembl||C|C||||chr22:g.27254818C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=48762;gnomADv4_1_AC_joint_XX=25091;gnomADv4_1_AC_joint_XY=23671;gnomADv4_1_AF_grpmax_joint=0.411565;gnomADv4_1_AF_joint=0.32095;gnomADv4_1_AF_joint_XX=0.32298;gnomADv4_1_AF_joint_XY=0.318827;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151930;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74244;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8395;gnomADv4_1_nhomalt_joint_XX=4367;gnomADv4_1_nhomalt_joint_XY=4028;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27254904 chr22_27254904_G_T G T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.791;CADD_Rawscore=-0.077875;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs117746070|4143|1||||||||||||Ensembl||G|G||||chr22:g.27254904G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=10948;gnomADv4_1_AC_joint_XX=5551;gnomADv4_1_AC_joint_XY=5397;gnomADv4_1_AF_grpmax_joint=0.192715;gnomADv4_1_AF_joint=0.0719279;gnomADv4_1_AF_joint_XX=0.0713643;gnomADv4_1_AF_joint_XY=0.0725169;gnomADv4_1_AN_grpmax_joint=15292;gnomADv4_1_AN_joint=152208;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=658;gnomADv4_1_nhomalt_joint_XX=312;gnomADv4_1_nhomalt_joint_XY=346;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27255633 chr22_27255633_AT_A AT A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=0.353;CADDIndel_Rawscore=-0.280469;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs134782|3413|1||||||||||||Ensembl||T|T||||chr22:g.27255634del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=50157;gnomADv4_1_AC_joint_XX=25819;gnomADv4_1_AC_joint_XY=24338;gnomADv4_1_AF_grpmax_joint=0.410848;gnomADv4_1_AF_joint=0.330145;gnomADv4_1_AF_joint_XX=0.332359;gnomADv4_1_AF_joint_XY=0.327829;gnomADv4_1_AN_grpmax_joint=15266;gnomADv4_1_AN_joint=151924;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=8854;gnomADv4_1_nhomalt_joint_XX=4607;gnomADv4_1_nhomalt_joint_XY=4247;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27255754 chr22_27255754_T_C T C 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.318;CADD_Rawscore=-0.30734;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs134783|3293|1||||||||||||Ensembl||T|T||||chr22:g.27255754T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=50314;gnomADv4_1_AC_joint_XX=25878;gnomADv4_1_AC_joint_XY=24436;gnomADv4_1_AF_grpmax_joint=0.412443;gnomADv4_1_AF_joint=0.330722;gnomADv4_1_AF_joint_XX=0.332768;gnomADv4_1_AF_joint_XY=0.328582;gnomADv4_1_AN_grpmax_joint=15270;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=8925;gnomADv4_1_nhomalt_joint_XX=4635;gnomADv4_1_nhomalt_joint_XY=4290;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27256114 chr22_27256114_A_G A G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.93;CADD_Rawscore=-0.036644;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs134784|2933|1||||||||||||Ensembl||A|A||||chr22:g.27256114A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=39042;gnomADv4_1_AC_joint_XX=20139;gnomADv4_1_AC_joint_XY=18903;gnomADv4_1_AF_grpmax_joint=0.327425;gnomADv4_1_AF_joint=0.25668;gnomADv4_1_AF_joint_XX=0.258983;gnomADv4_1_AF_joint_XY=0.254271;gnomADv4_1_AN_grpmax_joint=67982;gnomADv4_1_AN_joint=152104;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5537;gnomADv4_1_nhomalt_joint_XX=2930;gnomADv4_1_nhomalt_joint_XY=2607;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27256328 chr22_27256328_A_G A G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=14.11;CADD_Rawscore=1.48693;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs134785|2719|1||||||||||||Ensembl||A|A||||chr22:g.27256328A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=93131;gnomADv4_1_AC_joint_XX=47888;gnomADv4_1_AC_joint_XY=45243;gnomADv4_1_AF_grpmax_joint=0.744898;gnomADv4_1_AF_joint=0.613649;gnomADv4_1_AF_joint_XX=0.617193;gnomADv4_1_AF_joint_XY=0.609941;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151766;gnomADv4_1_AN_joint_XX=77590;gnomADv4_1_AN_joint_XY=74176;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=30331;gnomADv4_1_nhomalt_joint_XX=15689;gnomADv4_1_nhomalt_joint_XY=14642;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27256329 chr22_27256329_G_T G T 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=14.27;CADD_Rawscore=1.51444;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs134786|2718|1||||||||||||Ensembl||G|G||||chr22:g.27256329G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=93126;gnomADv4_1_AC_joint_XX=47887;gnomADv4_1_AC_joint_XY=45239;gnomADv4_1_AF_grpmax_joint=0.744898;gnomADv4_1_AF_joint=0.613721;gnomADv4_1_AF_joint_XX=0.617212;gnomADv4_1_AF_joint_XY=0.610068;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151740;gnomADv4_1_AN_joint_XX=77586;gnomADv4_1_AN_joint_XY=74154;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=30329;gnomADv4_1_nhomalt_joint_XX=15688;gnomADv4_1_nhomalt_joint_XY=14641;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27257227 chr22_27257227_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.08;CADD_Rawscore=-0.671802;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs134787|1820|1||||||||||||Ensembl||A|A||||chr22:g.27257227A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=95329;gnomADv4_1_AC_joint_XX=49008;gnomADv4_1_AC_joint_XY=46321;gnomADv4_1_AF_grpmax_joint=0.741497;gnomADv4_1_AF_joint=0.62723;gnomADv4_1_AF_joint_XX=0.630588;gnomADv4_1_AF_joint_XY=0.623717;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151984;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31357;gnomADv4_1_nhomalt_joint_XX=16206;gnomADv4_1_nhomalt_joint_XY=15151;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27257291 chr22_27257291_C_T C T 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.308;CADD_Rawscore=-0.315178;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs134788|1756|1||||||||||||Ensembl||C|C||||chr22:g.27257291C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=131011;gnomADv4_1_AC_joint_XX=66939;gnomADv4_1_AC_joint_XY=64072;gnomADv4_1_AF_grpmax_joint=0.914901;gnomADv4_1_AF_joint=0.860759;gnomADv4_1_AF_joint_XX=0.860531;gnomADv4_1_AF_joint_XY=0.860998;gnomADv4_1_AN_grpmax_joint=41540;gnomADv4_1_AN_joint=152204;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=56531;gnomADv4_1_nhomalt_joint_XX=28868;gnomADv4_1_nhomalt_joint_XY=27663;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27257333 chr22_27257333_G_C G C 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.536;CADD_Rawscore=-0.175568;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs134789|1714|1||||||||||||Ensembl||G|G||||chr22:g.27257333G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=50243;gnomADv4_1_AC_joint_XX=25852;gnomADv4_1_AC_joint_XY=24391;gnomADv4_1_AF_grpmax_joint=0.41131;gnomADv4_1_AF_joint=0.330311;gnomADv4_1_AF_joint_XX=0.332416;gnomADv4_1_AF_joint_XY=0.328109;gnomADv4_1_AN_grpmax_joint=15278;gnomADv4_1_AN_joint=152108;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=8882;gnomADv4_1_nhomalt_joint_XX=4617;gnomADv4_1_nhomalt_joint_XY=4265;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27257436 chr22_27257436_C_T C T 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.676;CADD_Rawscore=-0.117639;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs134790|1611|1||||||||||||Ensembl||C|C||||chr22:g.27257436C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=131435;gnomADv4_1_AC_joint_XX=67189;gnomADv4_1_AC_joint_XY=64246;gnomADv4_1_AF_grpmax_joint=0.915952;gnomADv4_1_AF_joint=0.86417;gnomADv4_1_AF_joint_XX=0.864101;gnomADv4_1_AF_joint_XY=0.864242;gnomADv4_1_AN_grpmax_joint=41488;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=56936;gnomADv4_1_nhomalt_joint_XX=29097;gnomADv4_1_nhomalt_joint_XY=27839;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27257463 chr22_27257463_C_T C T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=3.193;CADD_Rawscore=0.292648;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs28459018|1584|1||||||||||||Ensembl||C|C||||chr22:g.27257463C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=10925;gnomADv4_1_AC_joint_XX=5556;gnomADv4_1_AC_joint_XY=5369;gnomADv4_1_AF_grpmax_joint=0.193289;gnomADv4_1_AF_joint=0.0717966;gnomADv4_1_AF_joint_XX=0.0714469;gnomADv4_1_AF_joint_XY=0.072162;gnomADv4_1_AN_grpmax_joint=15288;gnomADv4_1_AN_joint=152166;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=660;gnomADv4_1_nhomalt_joint_XX=319;gnomADv4_1_nhomalt_joint_XY=341;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27258535 chr22_27258535_CATAT_C;chr22_27258535_C_CAT CATAT C 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.751;CADDIndel_Rawscore=-0.091301;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs10562036|508|1||||||||||||Ensembl||ATAT|ATAT||||chr22:g.27258556_27258559del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=56196;gnomADv4_1_AC_joint_XX=28906;gnomADv4_1_AC_joint_XY=27290;gnomADv4_1_AF_grpmax_joint=0.4375;gnomADv4_1_AF_joint=0.382864;gnomADv4_1_AF_joint_XX=0.383003;gnomADv4_1_AF_joint_XY=0.382717;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=146778;gnomADv4_1_AN_joint_XX=75472;gnomADv4_1_AN_joint_XY=71306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=10741;gnomADv4_1_nhomalt_joint_XX=5536;gnomADv4_1_nhomalt_joint_XY=5205;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27258535 chr22_27258535_CATAT_C;chr22_27258535_C_CAT C CAT 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.732;CADDIndel_Rawscore=-0.097771;CSQ=AT|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs10562036|511|1||||||||||||Ensembl|||||||chr22:g.27258558_27258559dup|||||||||||||;TYPE=INDEL;VEP_Allele=AT;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=10354;gnomADv4_1_AC_joint_XX=5575;gnomADv4_1_AC_joint_XY=4779;gnomADv4_1_AF_grpmax_joint=0.0956763;gnomADv4_1_AF_joint=0.0705679;gnomADv4_1_AF_joint_XX=0.0739076;gnomADv4_1_AF_joint_XY=0.0670342;gnomADv4_1_AN_grpmax_joint=66610;gnomADv4_1_AN_joint=146724;gnomADv4_1_AN_joint_XX=75432;gnomADv4_1_AN_joint_XY=71292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=386;gnomADv4_1_nhomalt_joint_XX=218;gnomADv4_1_nhomalt_joint_XY=168;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27258877 chr22_27258877_G_T G T 28 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=28;CADD_PHREDscore=11.45;CADD_Rawscore=1.10827;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs134791|170|1||||||||||||Ensembl||G|G||||chr22:g.27258877G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=30663;gnomADv4_1_AC_joint_XX=15859;gnomADv4_1_AC_joint_XY=14804;gnomADv4_1_AF_grpmax_joint=0.287108;gnomADv4_1_AF_joint=0.201677;gnomADv4_1_AF_joint_XX=0.204016;gnomADv4_1_AF_joint_XY=0.19923;gnomADv4_1_AN_grpmax_joint=67936;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3890;gnomADv4_1_nhomalt_joint_XX=2046;gnomADv4_1_nhomalt_joint_XY=1844;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27259519 chr22_27259519_G_C G C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.002;CADD_Rawscore=-1.77875;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||2/2|ENST00000763712.1:n.97+18G>C|||||||rs4411||1||||||||||||Ensembl||G|G||||chr22:g.27259519G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=65024;gnomADv4_1_AC_joint_XX=33869;gnomADv4_1_AC_joint_XY=31155;gnomADv4_1_AF_grpmax_joint=0.462012;gnomADv4_1_AF_joint=0.427863;gnomADv4_1_AF_joint_XX=0.435805;gnomADv4_1_AF_joint_XY=0.419551;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=151974;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14262;gnomADv4_1_nhomalt_joint_XX=7507;gnomADv4_1_nhomalt_joint_XY=6755;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27260375 chr22_27260375_T_TC T TC 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=12;CADDIndel_PHREDscore=1.877;CADDIndel_Rawscore=0.147182;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs1230918843|524|1||||||||||||Ensembl|||||||chr22:g.27260381dup|||||||||||||;TYPE=INDEL;VEP_Allele=C;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=3868;gnomADv4_1_AC_joint_XX=2145;gnomADv4_1_AC_joint_XY=1723;gnomADv4_1_AF_grpmax_joint=0.0714286;gnomADv4_1_AF_joint=0.0626681;gnomADv4_1_AF_joint_XX=0.0642831;gnomADv4_1_AF_joint_XY=0.0607674;gnomADv4_1_AN_grpmax_joint=98;gnomADv4_1_AN_joint=61722;gnomADv4_1_AN_joint_XX=33368;gnomADv4_1_AN_joint_XY=28354;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27260947 chr22_27260947_T_C T C 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.108;CADD_Rawscore=-0.591628;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs513961|1096|1||||||||||||Ensembl||T|T||||chr22:g.27260947T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=116364;gnomADv4_1_AC_joint_XX=59666;gnomADv4_1_AC_joint_XY=56698;gnomADv4_1_AF_grpmax_joint=0.915136;gnomADv4_1_AF_joint=0.76516;gnomADv4_1_AF_joint_XX=0.767349;gnomADv4_1_AF_joint_XY=0.76287;gnomADv4_1_AN_grpmax_joint=41490;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=45278;gnomADv4_1_nhomalt_joint_XX=23330;gnomADv4_1_nhomalt_joint_XY=21948;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27261546 chr22_27261546_G_A G A 60 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.005;CADD_Rawscore=-1.50096;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs79137|1695|1||||||||||||Ensembl||G|G||||chr22:g.27261546G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=108885;gnomADv4_1_AC_joint_XX=55759;gnomADv4_1_AC_joint_XY=53126;gnomADv4_1_AF_grpmax_joint=0.768707;gnomADv4_1_AF_joint=0.71601;gnomADv4_1_AF_joint_XX=0.716918;gnomADv4_1_AF_joint_XY=0.715059;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=39146;gnomADv4_1_nhomalt_joint_XX=20133;gnomADv4_1_nhomalt_joint_XY=19013;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27261583 chr22_27261583_C_T C T 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.763;CADD_Rawscore=0.130545;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs518350|1732|1||||||||||||Ensembl||C|C||||chr22:g.27261583C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=34511;gnomADv4_1_AC_joint_XX=17797;gnomADv4_1_AC_joint_XY=16714;gnomADv4_1_AF_grpmax_joint=0.465883;gnomADv4_1_AF_joint=0.226989;gnomADv4_1_AF_joint_XX=0.229024;gnomADv4_1_AF_joint_XY=0.224862;gnomADv4_1_AN_grpmax_joint=41416;gnomADv4_1_AN_joint=152038;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5709;gnomADv4_1_nhomalt_joint_XX=2980;gnomADv4_1_nhomalt_joint_XY=2729;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27261643 chr22_27261643_G_A G A 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.06;CADD_Rawscore=-0.750765;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs486375|1792|1||||||||||||Ensembl||G|G||||chr22:g.27261643G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=114988;gnomADv4_1_AC_joint_XX=58941;gnomADv4_1_AC_joint_XY=56047;gnomADv4_1_AF_grpmax_joint=0.904654;gnomADv4_1_AF_joint=0.756341;gnomADv4_1_AF_joint_XX=0.758279;gnomADv4_1_AF_joint_XY=0.754313;gnomADv4_1_AN_grpmax_joint=41470;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=44211;gnomADv4_1_nhomalt_joint_XX=22777;gnomADv4_1_nhomalt_joint_XY=21434;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27261782 chr22_27261782_A_G A G 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=34;CADD_PHREDscore=1.56;CADD_Rawscore=0.098487;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs35563028|1931|1||||||||||||Ensembl||A|A||||chr22:g.27261782A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=11083;gnomADv4_1_AC_joint_XX=5766;gnomADv4_1_AC_joint_XY=5317;gnomADv4_1_AF_grpmax_joint=0.20809;gnomADv4_1_AF_joint=0.0729577;gnomADv4_1_AF_joint_XX=0.0742678;gnomADv4_1_AF_joint_XY=0.0715882;gnomADv4_1_AN_grpmax_joint=41362;gnomADv4_1_AN_joint=151910;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=940;gnomADv4_1_nhomalt_joint_XX=472;gnomADv4_1_nhomalt_joint_XY=468;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27262331 chr22_27262331_G_C G C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.284;CADD_Rawscore=-0.336091;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs569308|2480|1||||||||||||Ensembl||G|G||||chr22:g.27262331G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=117194;gnomADv4_1_AC_joint_XX=60137;gnomADv4_1_AC_joint_XY=57057;gnomADv4_1_AF_grpmax_joint=0.89396;gnomADv4_1_AF_joint=0.770192;gnomADv4_1_AF_joint_XX=0.773049;gnomADv4_1_AF_joint_XY=0.767205;gnomADv4_1_AN_grpmax_joint=41522;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=45617;gnomADv4_1_nhomalt_joint_XX=23535;gnomADv4_1_nhomalt_joint_XY=22082;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27263068 chr22_27263068_T_C T C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.444;CADD_Rawscore=-0.222862;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs760591|3217|1||||||||||||Ensembl||T|T||||chr22:g.27263068T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=105902;gnomADv4_1_AC_joint_XX=54241;gnomADv4_1_AC_joint_XY=51661;gnomADv4_1_AF_grpmax_joint=0.789329;gnomADv4_1_AF_joint=0.69654;gnomADv4_1_AF_joint_XX=0.697777;gnomADv4_1_AF_joint_XY=0.695247;gnomADv4_1_AN_grpmax_joint=41496;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=37168;gnomADv4_1_nhomalt_joint_XX=19118;gnomADv4_1_nhomalt_joint_XY=18050;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27263269 chr22_27263269_T_C T C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.041;CADD_Rawscore=-0.852005;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs1519218|3418|1||||||||||||Ensembl||T|T||||chr22:g.27263269T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=93040;gnomADv4_1_AC_joint_XX=47418;gnomADv4_1_AC_joint_XY=45622;gnomADv4_1_AF_grpmax_joint=0.680873;gnomADv4_1_AF_joint=0.61192;gnomADv4_1_AF_joint_XX=0.61005;gnomADv4_1_AF_joint_XY=0.613876;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28764;gnomADv4_1_nhomalt_joint_XX=14632;gnomADv4_1_nhomalt_joint_XY=14132;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27263386 chr22_27263386_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.766;CADD_Rawscore=-0.086129;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs1519217|3535|1||||||||||||Ensembl||C|C||||chr22:g.27263386C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=104712;gnomADv4_1_AC_joint_XX=53569;gnomADv4_1_AC_joint_XY=51143;gnomADv4_1_AF_grpmax_joint=0.758929;gnomADv4_1_AF_joint=0.68836;gnomADv4_1_AF_joint_XX=0.688742;gnomADv4_1_AF_joint_XY=0.687961;gnomADv4_1_AN_grpmax_joint=41494;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=36220;gnomADv4_1_nhomalt_joint_XX=18574;gnomADv4_1_nhomalt_joint_XY=17646;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27263668 chr22_27263668_A_C A C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.093;CADD_Rawscore=-0.62959;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs738211|3817|1||||||||||||Ensembl||A|A||||chr22:g.27263668A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=91544;gnomADv4_1_AC_joint_XX=46664;gnomADv4_1_AC_joint_XY=44880;gnomADv4_1_AF_grpmax_joint=0.679046;gnomADv4_1_AF_joint=0.603733;gnomADv4_1_AF_joint_XX=0.601806;gnomADv4_1_AF_joint_XY=0.60575;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=151630;gnomADv4_1_AN_joint_XX=77540;gnomADv4_1_AN_joint_XY=74090;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=27920;gnomADv4_1_nhomalt_joint_XX=14207;gnomADv4_1_nhomalt_joint_XY=13713;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27263670 chr22_27263670_G_A G A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.238;CADD_Rawscore=-0.381118;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs738212|3819|1||||||||||||Ensembl||G|G||||chr22:g.27263670G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=91551;gnomADv4_1_AC_joint_XX=46662;gnomADv4_1_AC_joint_XY=44889;gnomADv4_1_AF_grpmax_joint=0.679253;gnomADv4_1_AF_joint=0.603946;gnomADv4_1_AF_joint_XX=0.602013;gnomADv4_1_AF_joint_XY=0.605969;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=151588;gnomADv4_1_AN_joint_XX=77510;gnomADv4_1_AN_joint_XY=74078;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=27920;gnomADv4_1_nhomalt_joint_XX=14205;gnomADv4_1_nhomalt_joint_XY=13715;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27263763 chr22_27263763_G_A G A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=9.401;CADD_Rawscore=0.914487;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs738213|3912|1||||||||||||Ensembl||G|G||||chr22:g.27263763G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=91917;gnomADv4_1_AC_joint_XX=46822;gnomADv4_1_AC_joint_XY=45095;gnomADv4_1_AF_grpmax_joint=0.678912;gnomADv4_1_AF_joint=0.604789;gnomADv4_1_AF_joint_XX=0.602646;gnomADv4_1_AF_joint_XY=0.607029;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=151982;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28113;gnomADv4_1_nhomalt_joint_XX=14291;gnomADv4_1_nhomalt_joint_XY=13822;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27263813 chr22_27263813_G_A G A 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=2.693;CADD_Rawscore=0.244086;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs738214|3962|1||||||||||||Ensembl||G|G||||chr22:g.27263813G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=91904;gnomADv4_1_AC_joint_XX=46831;gnomADv4_1_AC_joint_XY=45073;gnomADv4_1_AF_grpmax_joint=0.679493;gnomADv4_1_AF_joint=0.604926;gnomADv4_1_AF_joint_XX=0.602886;gnomADv4_1_AF_joint_XY=0.60706;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=151926;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28119;gnomADv4_1_nhomalt_joint_XX=14299;gnomADv4_1_nhomalt_joint_XY=13820;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27264003 chr22_27264003_G_A G A 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=13.86;CADD_Rawscore=1.44704;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs6005348|4152|1||||||||||||Ensembl||G|G||||chr22:g.27264003G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=91888;gnomADv4_1_AC_joint_XX=46873;gnomADv4_1_AC_joint_XY=45015;gnomADv4_1_AF_grpmax_joint=0.680042;gnomADv4_1_AF_joint=0.607315;gnomADv4_1_AF_joint_XX=0.605391;gnomADv4_1_AF_joint_XY=0.609332;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=151302;gnomADv4_1_AN_joint_XX=77426;gnomADv4_1_AN_joint_XY=73876;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28112;gnomADv4_1_nhomalt_joint_XX=14323;gnomADv4_1_nhomalt_joint_XY=13789;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27264013 chr22_27264013_G_A G A 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=12.2;CADD_Rawscore=1.20062;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs6005349|4162|1||||||||||||Ensembl||G|G||||chr22:g.27264013G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=91898;gnomADv4_1_AC_joint_XX=46881;gnomADv4_1_AC_joint_XY=45017;gnomADv4_1_AF_grpmax_joint=0.678869;gnomADv4_1_AF_joint=0.607293;gnomADv4_1_AF_joint_XX=0.605447;gnomADv4_1_AF_joint_XY=0.609227;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=151324;gnomADv4_1_AN_joint_XX=77432;gnomADv4_1_AN_joint_XY=73892;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28116;gnomADv4_1_nhomalt_joint_XX=14330;gnomADv4_1_nhomalt_joint_XY=13786;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27264331 chr22_27264331_G_T G T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.044;CADD_Rawscore=-0.833301;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs73428211|4480|1||||||||||||Ensembl||G|G||||chr22:g.27264331G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=13493;gnomADv4_1_AC_joint_XX=7140;gnomADv4_1_AC_joint_XY=6353;gnomADv4_1_AF_grpmax_joint=0.274819;gnomADv4_1_AF_joint=0.0886717;gnomADv4_1_AF_joint_XX=0.0918233;gnomADv4_1_AF_joint_XY=0.0853783;gnomADv4_1_AN_grpmax_joint=41460;gnomADv4_1_AN_joint=152168;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1610;gnomADv4_1_nhomalt_joint_XX=856;gnomADv4_1_nhomalt_joint_XY=754;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27264500 chr22_27264500_C_T C T 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=6.251;CADD_Rawscore=0.578833;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs4820748|4649|1||||||||||||Ensembl||C|C||||chr22:g.27264500C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=89416;gnomADv4_1_AC_joint_XX=45499;gnomADv4_1_AC_joint_XY=43917;gnomADv4_1_AF_grpmax_joint=0.678853;gnomADv4_1_AF_joint=0.58824;gnomADv4_1_AF_joint_XX=0.585723;gnomADv4_1_AF_joint_XY=0.59087;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=26863;gnomADv4_1_nhomalt_joint_XX=13606;gnomADv4_1_nhomalt_joint_XY=13257;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27264526 chr22_27264526_G_A G A 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.137;CADD_Rawscore=-0.526892;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs472985|4675|1||||||||||||Ensembl||G|G||||chr22:g.27264526G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=87453;gnomADv4_1_AC_joint_XX=44527;gnomADv4_1_AC_joint_XY=42926;gnomADv4_1_AF_grpmax_joint=0.67422;gnomADv4_1_AF_joint=0.575296;gnomADv4_1_AF_joint_XX=0.57296;gnomADv4_1_AF_joint_XY=0.577739;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=25602;gnomADv4_1_nhomalt_joint_XX=12994;gnomADv4_1_nhomalt_joint_XY=12608;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27264694 chr22_27264694_T_C T C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.197;CADD_Rawscore=0.028945;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs560939|4843|1||||||||||||Ensembl||T|T||||chr22:g.27264694T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=89019;gnomADv4_1_AC_joint_XX=45383;gnomADv4_1_AC_joint_XY=43636;gnomADv4_1_AF_grpmax_joint=0.636054;gnomADv4_1_AF_joint=0.585975;gnomADv4_1_AF_joint_XX=0.58423;gnomADv4_1_AF_joint_XY=0.587801;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151916;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=26095;gnomADv4_1_nhomalt_joint_XX=13305;gnomADv4_1_nhomalt_joint_XY=12790;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27264714 chr22_27264714_G_A G A 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.065;CADD_Rawscore=-0.727269;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs760593|4863|1||||||||||||Ensembl||G|G||||chr22:g.27264714G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=81947;gnomADv4_1_AC_joint_XX=41674;gnomADv4_1_AC_joint_XY=40273;gnomADv4_1_AF_grpmax_joint=0.608282;gnomADv4_1_AF_joint=0.539146;gnomADv4_1_AF_joint_XX=0.53611;gnomADv4_1_AF_joint_XY=0.542324;gnomADv4_1_AN_grpmax_joint=4830;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=22224;gnomADv4_1_nhomalt_joint_XX=11249;gnomADv4_1_nhomalt_joint_XY=10975;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27264786 chr22_27264786_G_A G A 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=2.294;CADD_Rawscore=0.200529;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs737192|4935|1||||||||||||Ensembl||G|G||||chr22:g.27264786G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=66988;gnomADv4_1_AC_joint_XX=34102;gnomADv4_1_AC_joint_XY=32886;gnomADv4_1_AF_grpmax_joint=0.570124;gnomADv4_1_AF_joint=0.44103;gnomADv4_1_AF_joint_XX=0.439074;gnomADv4_1_AF_joint_XY=0.443076;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=151890;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14854;gnomADv4_1_nhomalt_joint_XX=7514;gnomADv4_1_nhomalt_joint_XY=7340;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27264792 chr22_27264792_C_CTTCA C CTTCA 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=1.768;CADDIndel_Rawscore=0.131338;CSQ=TTCA|downstream_gene_variant|MODIFIER||ENSG00000299465|Transcript|ENST00000763712|lncRNA||||||||||rs3061884|4941|1||||||||||||Ensembl|||||||chr22:g.27264803_27264806dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTCA;VEP_Feature=ENST00000763712;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299465;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=61062;gnomADv4_1_AC_joint_XX=31048;gnomADv4_1_AC_joint_XY=30014;gnomADv4_1_AF_grpmax_joint=0.551108;gnomADv4_1_AF_joint=0.401808;gnomADv4_1_AF_joint_XX=0.399547;gnomADv4_1_AF_joint_XY=0.404175;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=151968;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12644;gnomADv4_1_nhomalt_joint_XX=6368;gnomADv4_1_nhomalt_joint_XY=6276;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27265048 chr22_27265048_G_T G T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.067;CADD_Rawscore=0.1727;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs932299|||||||||||||||||||||chr22:g.27265048G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=65600;gnomADv4_1_AC_joint_XX=33469;gnomADv4_1_AC_joint_XY=32131;gnomADv4_1_AF_grpmax_joint=0.550291;gnomADv4_1_AF_joint=0.431346;gnomADv4_1_AF_joint_XX=0.430481;gnomADv4_1_AF_joint_XY=0.432252;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14232;gnomADv4_1_nhomalt_joint_XX=7203;gnomADv4_1_nhomalt_joint_XY=7029;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27265224 chr22_27265224_C_T C T 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=7.539;CADD_Rawscore=0.717335;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs55634066|||||||||||||||||||||chr22:g.27265224C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=4041;gnomADv4_1_AC_joint_XX=2108;gnomADv4_1_AC_joint_XY=1933;gnomADv4_1_AF_grpmax_joint=0.105442;gnomADv4_1_AF_joint=0.026545;gnomADv4_1_AF_joint_XX=0.0270972;gnomADv4_1_AF_joint_XY=0.0259679;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152232;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=80;gnomADv4_1_nhomalt_joint_XX=45;gnomADv4_1_nhomalt_joint_XY=35;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27265342 chr22_27265342_CTGT_C CTGT C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=3.418;CADDIndel_Rawscore=0.313263;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs140259583|||||||||||||||||||||chr22:g.27265350_27265352del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=4050;gnomADv4_1_AC_joint_XX=2108;gnomADv4_1_AC_joint_XY=1942;gnomADv4_1_AF_grpmax_joint=0.105442;gnomADv4_1_AF_joint=0.0265898;gnomADv4_1_AF_joint_XX=0.0270854;gnomADv4_1_AF_joint_XY=0.026072;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152314;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=80;gnomADv4_1_nhomalt_joint_XX=45;gnomADv4_1_nhomalt_joint_XY=35;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27265917 chr22_27265917_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.658;CADD_Rawscore=0.240418;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs549601|||||||||||||||||||||chr22:g.27265917A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=99649;gnomADv4_1_AC_joint_XX=51262;gnomADv4_1_AC_joint_XY=48387;gnomADv4_1_AF_grpmax_joint=0.884908;gnomADv4_1_AF_joint=0.655241;gnomADv4_1_AF_joint_XX=0.65925;gnomADv4_1_AF_joint_XY=0.651045;gnomADv4_1_AN_grpmax_joint=41532;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=34354;gnomADv4_1_nhomalt_joint_XX=17774;gnomADv4_1_nhomalt_joint_XY=16580;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27266034 chr22_27266034_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.031;CADD_Rawscore=-0.932836;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs4822867|||||||||||||||||||||chr22:g.27266034G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=89951;gnomADv4_1_AC_joint_XX=46105;gnomADv4_1_AC_joint_XY=43846;gnomADv4_1_AF_grpmax_joint=0.715737;gnomADv4_1_AF_joint=0.591915;gnomADv4_1_AF_joint_XX=0.593662;gnomADv4_1_AF_joint_XY=0.590089;gnomADv4_1_AN_grpmax_joint=41430;gnomADv4_1_AN_joint=151966;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=27215;gnomADv4_1_nhomalt_joint_XX=13978;gnomADv4_1_nhomalt_joint_XY=13237;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27266215 chr22_27266215_G_A G A 58 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.592;CADD_Rawscore=-0.15091;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs525783|||||||||||||||||||||chr22:g.27266215G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=89193;gnomADv4_1_AC_joint_XX=45746;gnomADv4_1_AC_joint_XY=43447;gnomADv4_1_AF_grpmax_joint=0.758185;gnomADv4_1_AF_joint=0.58805;gnomADv4_1_AF_joint_XX=0.589693;gnomADv4_1_AF_joint_XY=0.586329;gnomADv4_1_AN_grpmax_joint=41358;gnomADv4_1_AN_joint=151676;gnomADv4_1_AN_joint_XX=77576;gnomADv4_1_AN_joint_XY=74100;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=27194;gnomADv4_1_nhomalt_joint_XX=13984;gnomADv4_1_nhomalt_joint_XY=13210;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27266225 chr22_27266225_T_C T C 55 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.151;CADD_Rawscore=-0.500508;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs486143|||||||||||||||||||||chr22:g.27266225T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=89326;gnomADv4_1_AC_joint_XX=45808;gnomADv4_1_AC_joint_XY=43518;gnomADv4_1_AF_grpmax_joint=0.75874;gnomADv4_1_AF_joint=0.588569;gnomADv4_1_AF_joint_XX=0.590294;gnomADv4_1_AF_joint_XY=0.586765;gnomADv4_1_AN_grpmax_joint=41362;gnomADv4_1_AN_joint=151768;gnomADv4_1_AN_joint_XX=77602;gnomADv4_1_AN_joint_XY=74166;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=27271;gnomADv4_1_nhomalt_joint_XX=14025;gnomADv4_1_nhomalt_joint_XY=13246;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27266252 chr22_27266252_G_T G T 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.406;CADD_Rawscore=0.07116;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762049|||||||||||||||||||||chr22:g.27266252G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=80713;gnomADv4_1_AC_joint_XX=41272;gnomADv4_1_AC_joint_XY=39441;gnomADv4_1_AF_grpmax_joint=0.655819;gnomADv4_1_AF_joint=0.530518;gnomADv4_1_AF_joint_XX=0.530652;gnomADv4_1_AF_joint_XY=0.530378;gnomADv4_1_AN_grpmax_joint=41516;gnomADv4_1_AN_joint=152140;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=21951;gnomADv4_1_nhomalt_joint_XX=11252;gnomADv4_1_nhomalt_joint_XY=10699;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27266436 chr22_27266436_C_T C T 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.44;CADD_Rawscore=0.077395;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs6005352|||||||||||||||||||||chr22:g.27266436C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=85131;gnomADv4_1_AC_joint_XX=43621;gnomADv4_1_AC_joint_XY=41510;gnomADv4_1_AF_grpmax_joint=0.667012;gnomADv4_1_AF_joint=0.560242;gnomADv4_1_AF_joint_XX=0.561215;gnomADv4_1_AF_joint_XY=0.559223;gnomADv4_1_AN_grpmax_joint=41446;gnomADv4_1_AN_joint=151954;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24308;gnomADv4_1_nhomalt_joint_XX=12477;gnomADv4_1_nhomalt_joint_XY=11831;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27266512 chr22_27266512_C_T C T 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.216;CADD_Rawscore=-0.406266;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5997207|||||||||||||||||||||chr22:g.27266512C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=85266;gnomADv4_1_AC_joint_XX=43676;gnomADv4_1_AC_joint_XY=41590;gnomADv4_1_AF_grpmax_joint=0.66698;gnomADv4_1_AF_joint=0.560931;gnomADv4_1_AF_joint_XX=0.561735;gnomADv4_1_AF_joint_XY=0.560089;gnomADv4_1_AN_grpmax_joint=41442;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24362;gnomADv4_1_nhomalt_joint_XX=12502;gnomADv4_1_nhomalt_joint_XY=11860;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27266542 chr22_27266542_T_C T C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=6.344;CADD_Rawscore=0.588403;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs183988983|||||||||||||||||||||chr22:g.27266542T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=311;gnomADv4_1_AC_joint_XX=160;gnomADv4_1_AC_joint_XY=151;gnomADv4_1_AF_grpmax_joint=0.00335146;gnomADv4_1_AF_joint=0.00204159;gnomADv4_1_AF_joint_XX=0.0020555;gnomADv4_1_AF_joint_XY=0.00202706;gnomADv4_1_AN_grpmax_joint=68030;gnomADv4_1_AN_joint=152332;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74492;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27266674 chr22_27266674_C_T C T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.6;CADD_Rawscore=-0.147578;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs521957|||||||||||||||||||||chr22:g.27266674C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=29696;gnomADv4_1_AC_joint_XX=15179;gnomADv4_1_AC_joint_XY=14517;gnomADv4_1_AF_grpmax_joint=0.314056;gnomADv4_1_AF_joint=0.195286;gnomADv4_1_AF_joint_XX=0.195299;gnomADv4_1_AF_joint_XY=0.195273;gnomADv4_1_AN_grpmax_joint=41448;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3279;gnomADv4_1_nhomalt_joint_XX=1727;gnomADv4_1_nhomalt_joint_XY=1552;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27267287 chr22_27267287_G_T G T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=4.108;CADD_Rawscore=0.374778;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DS7T|enhancer||||||||||rs713855|||||||||||||||||||||chr22:g.27267287G>T|||||||||||||,T|intergenic_variant|MODIFIER|||||||||||||||rs713855|||||||||||||||||||||chr22:g.27267287G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENSR22_9DS7T,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=70110;gnomADv4_1_AC_joint_XX=35403;gnomADv4_1_AC_joint_XY=34707;gnomADv4_1_AF_grpmax_joint=0.679377;gnomADv4_1_AF_joint=0.461038;gnomADv4_1_AF_joint_XX=0.455344;gnomADv4_1_AF_joint_XY=0.466994;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16579;gnomADv4_1_nhomalt_joint_XX=8247;gnomADv4_1_nhomalt_joint_XY=8332;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27267682 chr22_27267682_T_C T C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.031;CADD_Rawscore=-0.933057;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4412|||||||||||||||||||||chr22:g.27267682T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=100450;gnomADv4_1_AC_joint_XX=51056;gnomADv4_1_AC_joint_XY=49394;gnomADv4_1_AF_grpmax_joint=0.876715;gnomADv4_1_AF_joint=0.660534;gnomADv4_1_AF_joint_XX=0.656635;gnomADv4_1_AF_joint_XY=0.664612;gnomADv4_1_AN_grpmax_joint=41546;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=34785;gnomADv4_1_nhomalt_joint_XX=17603;gnomADv4_1_nhomalt_joint_XY=17182;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27271834 chr22_27271834_G_A G A 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=1.499;CADD_Rawscore=0.087963;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||||||||||rs713914|4406|1||||3||||||||Ensembl||G|G||||chr22:g.27271834G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs713914|4378|1||||||||||||Ensembl||G|G||||chr22:g.27271834G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=78382;gnomADv4_1_AC_joint_XX=39479;gnomADv4_1_AC_joint_XY=38903;gnomADv4_1_AF_grpmax_joint=0.676763;gnomADv4_1_AF_joint=0.515481;gnomADv4_1_AF_joint_XX=0.507755;gnomADv4_1_AF_joint_XY=0.523565;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=20586;gnomADv4_1_nhomalt_joint_XX=10164;gnomADv4_1_nhomalt_joint_XY=10422;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27272409 chr22_27272409_A_G A G 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.408;CADD_Rawscore=-0.24387;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||||||||||rs134794|3831|1||||3||||||||Ensembl||A|A||||chr22:g.27272409A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs134794|3803|1||||||||||||Ensembl||A|A||||chr22:g.27272409A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=79534;gnomADv4_1_AC_joint_XX=40177;gnomADv4_1_AC_joint_XY=39357;gnomADv4_1_AF_grpmax_joint=0.677413;gnomADv4_1_AF_joint=0.523126;gnomADv4_1_AF_joint_XX=0.516866;gnomADv4_1_AF_joint_XY=0.529675;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=152036;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=21100;gnomADv4_1_nhomalt_joint_XX=10498;gnomADv4_1_nhomalt_joint_XY=10602;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27272533 chr22_27272533_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.964;CADD_Rawscore=0.159049;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||||||||||rs79978713|3707|1||||3||||||||Ensembl||G|G||||chr22:g.27272533G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs79978713|3679|1||||||||||||Ensembl||G|G||||chr22:g.27272533G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=5088;gnomADv4_1_AC_joint_XX=2586;gnomADv4_1_AC_joint_XY=2502;gnomADv4_1_AF_grpmax_joint=0.0480322;gnomADv4_1_AF_joint=0.0334486;gnomADv4_1_AF_joint_XX=0.0332622;gnomADv4_1_AF_joint_XY=0.0336435;gnomADv4_1_AN_grpmax_joint=67996;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=138;gnomADv4_1_nhomalt_joint_XX=62;gnomADv4_1_nhomalt_joint_XY=76;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27272583 chr22_27272583_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.469;CADD_Rawscore=0.317951;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||||||||||rs134795|3657|1||||3||||||||Ensembl||G|G||||chr22:g.27272583G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs134795|3629|1||||||||||||Ensembl||G|G||||chr22:g.27272583G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=63907;gnomADv4_1_AC_joint_XX=32255;gnomADv4_1_AC_joint_XY=31652;gnomADv4_1_AF_grpmax_joint=0.657579;gnomADv4_1_AF_joint=0.420209;gnomADv4_1_AF_joint_XX=0.414898;gnomADv4_1_AF_joint_XY=0.425762;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13932;gnomADv4_1_nhomalt_joint_XX=6927;gnomADv4_1_nhomalt_joint_XY=7005;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27272789 chr22_27272789_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.466;CADD_Rawscore=-0.210954;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||||||||||rs4413|3451|1||||3||||||||Ensembl||T|T||||chr22:g.27272789T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs4413|3423|1||||||||||||Ensembl||T|T||||chr22:g.27272789T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=69255;gnomADv4_1_AC_joint_XX=35187;gnomADv4_1_AC_joint_XY=34068;gnomADv4_1_AF_grpmax_joint=0.657609;gnomADv4_1_AF_joint=0.455739;gnomADv4_1_AF_joint_XX=0.452892;gnomADv4_1_AF_joint_XY=0.458717;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151962;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16136;gnomADv4_1_nhomalt_joint_XX=8139;gnomADv4_1_nhomalt_joint_XY=7997;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27273415 chr22_27273415_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=4.148;CADD_Rawscore=0.378369;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||||||||||rs4414|2825|1||||3||||||||Ensembl||G|G||||chr22:g.27273415G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs4414|2797|1||||||||||||Ensembl||G|G||||chr22:g.27273415G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=94107;gnomADv4_1_AC_joint_XX=47731;gnomADv4_1_AC_joint_XY=46376;gnomADv4_1_AF_grpmax_joint=0.721158;gnomADv4_1_AF_joint=0.620407;gnomADv4_1_AF_joint_XX=0.615122;gnomADv4_1_AF_joint_XY=0.625941;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=151686;gnomADv4_1_AN_joint_XX=77596;gnomADv4_1_AN_joint_XY=74090;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=29391;gnomADv4_1_nhomalt_joint_XX=14786;gnomADv4_1_nhomalt_joint_XY=14605;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27273769 chr22_27273769_T_TA T TA 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.38;CADDIndel_Rawscore=-0.262225;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||||||||||rs134796|2470|1||||3||||||||Ensembl|||||||chr22:g.27273782dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs134796|2442|1||||||||||||Ensembl|||||||chr22:g.27273782dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=5755;gnomADv4_1_AC_joint_XX=2827;gnomADv4_1_AC_joint_XY=2928;gnomADv4_1_AF_grpmax_joint=0.0699068;gnomADv4_1_AF_joint=0.0401857;gnomADv4_1_AF_joint_XX=0.0382141;gnomADv4_1_AF_joint_XY=0.0422926;gnomADv4_1_AN_grpmax_joint=4506;gnomADv4_1_AN_joint=143210;gnomADv4_1_AN_joint_XX=73978;gnomADv4_1_AN_joint_XY=69232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=172;gnomADv4_1_nhomalt_joint_XX=80;gnomADv4_1_nhomalt_joint_XY=92;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27273875 chr22_27273875_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.735;CADD_Rawscore=-0.096544;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||||||||||rs134797|2365|1||||3||||||||Ensembl||C|C||||chr22:g.27273875C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs134797|2337|1||||||||||||Ensembl||C|C||||chr22:g.27273875C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=59695;gnomADv4_1_AC_joint_XX=29922;gnomADv4_1_AC_joint_XY=29773;gnomADv4_1_AF_grpmax_joint=0.609338;gnomADv4_1_AF_joint=0.395934;gnomADv4_1_AF_joint_XX=0.38749;gnomADv4_1_AF_joint_XY=0.404799;gnomADv4_1_AN_grpmax_joint=5076;gnomADv4_1_AN_joint=150770;gnomADv4_1_AN_joint_XX=77220;gnomADv4_1_AN_joint_XY=73550;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12705;gnomADv4_1_nhomalt_joint_XX=6197;gnomADv4_1_nhomalt_joint_XY=6508;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27274059 chr22_27274059_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=10.39;CADD_Rawscore=1.00485;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||||||||||rs134798|2181|1||||3||||||||Ensembl||G|G||||chr22:g.27274059G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs134798|2153|1||||||||||||Ensembl||G|G||||chr22:g.27274059G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=101331;gnomADv4_1_AC_joint_XX=51582;gnomADv4_1_AC_joint_XY=49749;gnomADv4_1_AF_grpmax_joint=0.786929;gnomADv4_1_AF_joint=0.667609;gnomADv4_1_AF_joint_XX=0.664425;gnomADv4_1_AF_joint_XY=0.670942;gnomADv4_1_AN_grpmax_joint=41390;gnomADv4_1_AN_joint=151782;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74148;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=34527;gnomADv4_1_nhomalt_joint_XX=17416;gnomADv4_1_nhomalt_joint_XY=17111;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27278206 chr22_27278206_C_T C T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.736;CADD_Rawscore=0.248476;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||1/2|ENST00000449126.1:n.105+1862C>T|||||||rs62223987||1||||3||||||||Ensembl||C|C||||chr22:g.27278206C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||1/1|ENST00000783519.1:n.133+1862C>T|||||||rs62223987||1||||||||||||Ensembl||C|C||||chr22:g.27278206C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=10724;gnomADv4_1_AC_joint_XX=5581;gnomADv4_1_AC_joint_XY=5143;gnomADv4_1_AF_grpmax_joint=0.107242;gnomADv4_1_AF_joint=0.0704775;gnomADv4_1_AF_joint_XX=0.071761;gnomADv4_1_AF_joint_XY=0.0691356;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=536;gnomADv4_1_nhomalt_joint_XX=283;gnomADv4_1_nhomalt_joint_XY=253;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27279500 chr22_27279500_G_A G A 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=1.087;CADD_Rawscore=0.003898;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||1/2|ENST00000449126.1:n.106-2954G>A|||||||rs5762053||1||||3||||||||Ensembl||G|G||||chr22:g.27279500G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||1/1|ENST00000783519.1:n.134-2954G>A|||||||rs5762053||1||||||||||||Ensembl||G|G||||chr22:g.27279500G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=17382;gnomADv4_1_AC_joint_XX=8921;gnomADv4_1_AC_joint_XY=8461;gnomADv4_1_AF_grpmax_joint=0.124842;gnomADv4_1_AF_joint=0.11444;gnomADv4_1_AF_joint_XX=0.114858;gnomADv4_1_AF_joint_XY=0.114002;gnomADv4_1_AN_grpmax_joint=67942;gnomADv4_1_AN_joint=151888;gnomADv4_1_AN_joint_XX=77670;gnomADv4_1_AN_joint_XY=74218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=992;gnomADv4_1_nhomalt_joint_XX=497;gnomADv4_1_nhomalt_joint_XY=495;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27279928 chr22_27279928_T_TTA;chr22_27279928_T_TTATATATATA;chr22_27279928_T_TTTTATATATATA T TTA 28 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.75;AF_XX=.;AF_XY=0.75;AN=4;AN_XX=0;AN_XY=4;AQ=28;CADDIndel_PHREDscore=0.8;CADDIndel_Rawscore=-0.07517;CSQ=TA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||1/2|ENST00000449126.1:n.106-2479_106-2478dup|||||||rs134813||1||||3||||||||Ensembl||||||48|chr22:g.27279975_27279976dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||1/1|ENST00000783519.1:n.134-2479_134-2478dup|||||||rs134813||1||||||||||||Ensembl||||||48|chr22:g.27279975_27279976dup|||||||||||||;TYPE=INDEL;VEP_Allele=TA,TA;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=592;gnomADv4_1_AC_joint_XX=335;gnomADv4_1_AC_joint_XY=257;gnomADv4_1_AF_grpmax_joint=0.0625;gnomADv4_1_AF_joint=0.0289487;gnomADv4_1_AF_joint_XX=0.0301802;gnomADv4_1_AF_joint_XY=0.0274866;gnomADv4_1_AN_grpmax_joint=16;gnomADv4_1_AN_joint=20450;gnomADv4_1_AN_joint_XX=11100;gnomADv4_1_AN_joint_XY=9350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=41;gnomADv4_1_nhomalt_joint_XX=24;gnomADv4_1_nhomalt_joint_XY=17;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27279928 chr22_27279928_T_TTA;chr22_27279928_T_TTATATATATA;chr22_27279928_T_TTTTATATATATA T TTATATATATA 28 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=28;CADDIndel_PHREDscore=0.691;CADDIndel_Rawscore=-0.112348;CSQ=TATATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||1/2|ENST00000449126.1:n.106-2487_106-2478dup|||||||rs134813||1||||3||||||||Ensembl||||||48|chr22:g.27279967_27279976dup|||||||||||||,TATATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||1/1|ENST00000783519.1:n.134-2487_134-2478dup|||||||rs134813||1||||||||||||Ensembl||||||48|chr22:g.27279967_27279976dup|||||||||||||;TYPE=INDEL;VEP_Allele=TATATATATA,TATATATATA;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=242;gnomADv4_1_AC_joint_XX=133;gnomADv4_1_AC_joint_XY=109;gnomADv4_1_AF_grpmax_joint=0.0155849;gnomADv4_1_AF_joint=0.0117957;gnomADv4_1_AF_joint_XX=0.0119283;gnomADv4_1_AF_joint_XY=0.0116378;gnomADv4_1_AN_grpmax_joint=10138;gnomADv4_1_AN_joint=20516;gnomADv4_1_AN_joint_XX=11150;gnomADv4_1_AN_joint_XY=9366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=20;gnomADv4_1_nhomalt_joint_XX=10;gnomADv4_1_nhomalt_joint_XY=10;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27279928 chr22_27279928_T_TTA;chr22_27279928_T_TTATATATATA;chr22_27279928_T_TTTTATATATATA T TTTTATATATATA 28 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=20;CADDIndel_PHREDscore=0.665;CADDIndel_Rawscore=-0.121972;CSQ=TTTATATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||1/2|ENST00000449126.1:n.106-2525_106-2524insTTATATATATAT|||||||rs1443408874||1||||3||||||||Ensembl||||||1|chr22:g.27279929_27279930insTTATATATATAT|||||||||||||,TTTATATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||1/1|ENST00000783519.1:n.134-2525_134-2524insTTATATATATAT|||||||rs1443408874||1||||||||||||Ensembl||||||1|chr22:g.27279929_27279930insTTATATATATAT|||||||||||||;TYPE=INDEL;VEP_Allele=TTTATATATATA,TTTATATATATA;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=328;gnomADv4_1_AC_joint_XX=180;gnomADv4_1_AC_joint_XY=148;gnomADv4_1_AF_grpmax_joint=0.0215509;gnomADv4_1_AF_joint=0.0159518;gnomADv4_1_AF_joint_XX=0.0161088;gnomADv4_1_AF_joint_XY=0.0157648;gnomADv4_1_AN_grpmax_joint=10162;gnomADv4_1_AN_joint=20562;gnomADv4_1_AN_joint_XX=11174;gnomADv4_1_AN_joint_XY=9388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=41;gnomADv4_1_nhomalt_joint_XX=23;gnomADv4_1_nhomalt_joint_XY=18;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27281260 chr22_27281260_A_G A G 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.65;CADD_Rawscore=-0.127493;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||1/2|ENST00000449126.1:n.106-1194A>G|||||||rs79949571||1||||3||||||||Ensembl||A|A||||chr22:g.27281260A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||1/1|ENST00000783519.1:n.134-1194A>G|||||||rs79949571||1||||||||||||Ensembl||A|A||||chr22:g.27281260A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=4478;gnomADv4_1_AC_joint_XX=2107;gnomADv4_1_AC_joint_XY=2371;gnomADv4_1_AF_grpmax_joint=0.149046;gnomADv4_1_AF_joint=0.0294017;gnomADv4_1_AF_joint_XX=0.0270732;gnomADv4_1_AF_joint_XY=0.0318349;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152304;gnomADv4_1_AN_joint_XX=77826;gnomADv4_1_AN_joint_XY=74478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=123;gnomADv4_1_nhomalt_joint_XX=51;gnomADv4_1_nhomalt_joint_XY=72;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27281764 chr22_27281764_G_C G C 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.619;CADD_Rawscore=-0.139626;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||1/2|ENST00000449126.1:n.106-690G>C|||||||rs76027147||1||||3||||||||Ensembl||G|G||||chr22:g.27281764G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||1/1|ENST00000783519.1:n.134-690G>C|||||||rs76027147||1||||||||||||Ensembl||G|G||||chr22:g.27281764G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=3620;gnomADv4_1_AC_joint_XX=1832;gnomADv4_1_AC_joint_XY=1788;gnomADv4_1_AF_grpmax_joint=0.033547;gnomADv4_1_AF_joint=0.023772;gnomADv4_1_AF_joint_XX=0.0235349;gnomADv4_1_AF_joint_XY=0.02402;gnomADv4_1_AN_grpmax_joint=68024;gnomADv4_1_AN_joint=152280;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=55;gnomADv4_1_nhomalt_joint_XX=28;gnomADv4_1_nhomalt_joint_XY=27;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27281786 chr22_27281786_T_C T C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.163;CADD_Rawscore=-0.480524;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||1/2|ENST00000449126.1:n.106-668T>C|||||||rs558177||1||||3||||||||Ensembl||T|T||||chr22:g.27281786T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||1/1|ENST00000783519.1:n.134-668T>C|||||||rs558177||1||||||||||||Ensembl||T|T||||chr22:g.27281786T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=29769;gnomADv4_1_AC_joint_XX=15362;gnomADv4_1_AC_joint_XY=14407;gnomADv4_1_AF_grpmax_joint=0.492041;gnomADv4_1_AF_joint=0.195666;gnomADv4_1_AF_joint_XX=0.197511;gnomADv4_1_AF_joint_XY=0.193736;gnomADv4_1_AN_grpmax_joint=41464;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5461;gnomADv4_1_nhomalt_joint_XX=2846;gnomADv4_1_nhomalt_joint_XY=2615;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27282159 chr22_27282159_A_C A C 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.016;CADD_Rawscore=-1.11765;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||1/2|ENST00000449126.1:n.106-295A>C|||||||rs142806128||1||||3||||||||Ensembl||A|A||||chr22:g.27282159A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||1/1|ENST00000783519.1:n.134-295A>C|||||||rs142806128||1||||||||||||Ensembl||A|A||||chr22:g.27282159A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=401;gnomADv4_1_AC_joint_XX=208;gnomADv4_1_AC_joint_XY=193;gnomADv4_1_AF_grpmax_joint=0.0136054;gnomADv4_1_AF_joint=0.00263234;gnomADv4_1_AF_joint_XX=0.00267208;gnomADv4_1_AF_joint_XY=0.00259081;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152336;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74494;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27282502 chr22_27282502_C_T C T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.555;CADD_Rawscore=-0.167119;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA|2/3||ENST00000449126.1:n.154C>T||154|||||rs564666||1||||3||||||||Ensembl||C|C||||chr22:g.27282502C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA|2/2||ENST00000783519.1:n.182C>T||182|||||rs564666||1||||||||||||Ensembl||C|C||||chr22:g.27282502C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=29283;gnomADv4_1_AC_joint_XX=15091;gnomADv4_1_AC_joint_XY=14192;gnomADv4_1_AF_grpmax_joint=0.482834;gnomADv4_1_AF_joint=0.192482;gnomADv4_1_AF_joint_XX=0.194131;gnomADv4_1_AF_joint_XY=0.190758;gnomADv4_1_AN_grpmax_joint=41418;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5266;gnomADv4_1_nhomalt_joint_XX=2735;gnomADv4_1_nhomalt_joint_XY=2531;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27283847 chr22_27283847_G_A G A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.019;CADD_Rawscore=-1.07668;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||2/2|ENST00000449126.1:n.219+1280G>A|||||||rs542981||1||||3||||||||Ensembl||G|G||||chr22:g.27283847G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs542981|1058|1||||||||||||Ensembl||G|G||||chr22:g.27283847G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RMRB|open_chromatin_region||||||||||rs542981|||||||||||||||||||||chr22:g.27283847G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000449126,ENST00000783519,ENSR22_8RMRB;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000233574,ENSG00000233574,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=28859;gnomADv4_1_AC_joint_XX=14851;gnomADv4_1_AC_joint_XY=14008;gnomADv4_1_AF_grpmax_joint=0.471867;gnomADv4_1_AF_joint=0.189652;gnomADv4_1_AF_joint_XX=0.19097;gnomADv4_1_AF_joint_XY=0.188275;gnomADv4_1_AN_grpmax_joint=41482;gnomADv4_1_AN_joint=152168;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5050;gnomADv4_1_nhomalt_joint_XX=2621;gnomADv4_1_nhomalt_joint_XY=2429;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27284203 chr22_27284203_A_G A G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.689;CADD_Rawscore=-0.112838;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||2/2|ENST00000449126.1:n.219+1636A>G|||||||rs78494215||1||||3||||||||Ensembl||A|A||||chr22:g.27284203A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs78494215|1414|1||||||||||||Ensembl||A|A||||chr22:g.27284203A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=4488;gnomADv4_1_AC_joint_XX=2108;gnomADv4_1_AC_joint_XY=2380;gnomADv4_1_AF_grpmax_joint=0.151264;gnomADv4_1_AF_joint=0.029472;gnomADv4_1_AF_joint_XX=0.0270937;gnomADv4_1_AF_joint_XY=0.0319566;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152280;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=124;gnomADv4_1_nhomalt_joint_XX=51;gnomADv4_1_nhomalt_joint_XY=73;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27284740 chr22_27284740_C_G C G 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=3.524;CADD_Rawscore=0.322855;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||2/2|ENST00000449126.1:n.220-1555C>G|||||||rs117991541||1||||3||||||||Ensembl||C|C||||chr22:g.27284740C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs117991541|1951|1||||||||||||Ensembl||C|C||||chr22:g.27284740C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=4370;gnomADv4_1_AC_joint_XX=2071;gnomADv4_1_AC_joint_XY=2299;gnomADv4_1_AF_grpmax_joint=0.14015;gnomADv4_1_AF_joint=0.0287058;gnomADv4_1_AF_joint_XX=0.0266216;gnomADv4_1_AF_joint_XY=0.0308839;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=152234;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=110;gnomADv4_1_nhomalt_joint_XX=48;gnomADv4_1_nhomalt_joint_XY=62;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27284819 chr22_27284819_C_T C T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.681;CADD_Rawscore=-0.115801;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||2/2|ENST00000449126.1:n.220-1476C>T|||||||rs713704||1||||3||||||||Ensembl||C|C||||chr22:g.27284819C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs713704|2030|1||||||||||||Ensembl||C|C||||chr22:g.27284819C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=12831;gnomADv4_1_AC_joint_XX=6517;gnomADv4_1_AC_joint_XY=6314;gnomADv4_1_AF_grpmax_joint=0.204111;gnomADv4_1_AF_joint=0.0843013;gnomADv4_1_AF_joint_XX=0.0837919;gnomADv4_1_AF_joint_XY=0.0848337;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152204;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=699;gnomADv4_1_nhomalt_joint_XX=330;gnomADv4_1_nhomalt_joint_XY=369;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27284941 chr22_27284941_GA_G GA G 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADDIndel_PHREDscore=0.054;CADDIndel_Rawscore=-0.779242;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||2/2|ENST00000449126.1:n.220-1350del|||||||rs35307462||1||||3||||||||Ensembl||A|A|||3|chr22:g.27284945del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs35307462|2153|1||||||||||||Ensembl||A|A||||chr22:g.27284945del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=38840;gnomADv4_1_AC_joint_XX=19845;gnomADv4_1_AC_joint_XY=18995;gnomADv4_1_AF_grpmax_joint=0.549243;gnomADv4_1_AF_joint=0.255658;gnomADv4_1_AF_joint_XX=0.255557;gnomADv4_1_AF_joint_XY=0.255763;gnomADv4_1_AN_grpmax_joint=41326;gnomADv4_1_AN_joint=151922;gnomADv4_1_AN_joint_XX=77654;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8029;gnomADv4_1_nhomalt_joint_XX=4133;gnomADv4_1_nhomalt_joint_XY=3896;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27284943 chr22_27284943_A_G A G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.587;CADD_Rawscore=-0.15315;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||2/2|ENST00000449126.1:n.220-1352A>G|||||||rs549143843||1||||3||||||||Ensembl||A|A||||chr22:g.27284943A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs549143843|2154|1||||||||||||Ensembl||A|A||||chr22:g.27284943A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=4347;gnomADv4_1_AC_joint_XX=2066;gnomADv4_1_AC_joint_XY=2281;gnomADv4_1_AF_grpmax_joint=0.1745;gnomADv4_1_AF_joint=0.043743;gnomADv4_1_AF_joint_XX=0.0408413;gnomADv4_1_AF_joint_XY=0.0467514;gnomADv4_1_AN_grpmax_joint=3702;gnomADv4_1_AN_joint=99376;gnomADv4_1_AN_joint_XX=50586;gnomADv4_1_AN_joint_XY=48790;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=104;gnomADv4_1_nhomalt_joint_XX=47;gnomADv4_1_nhomalt_joint_XY=57;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27285449 chr22_27285449_G_A G A 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=6.342;CADD_Rawscore=0.588226;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||2/2|ENST00000449126.1:n.220-846G>A|||||||rs13058656||1||||3||||||||Ensembl||G|G||||chr22:g.27285449G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs13058656|2660|1||||||||||||Ensembl||G|G||||chr22:g.27285449G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=20442;gnomADv4_1_AC_joint_XX=10544;gnomADv4_1_AC_joint_XY=9898;gnomADv4_1_AF_grpmax_joint=0.232877;gnomADv4_1_AF_joint=0.134388;gnomADv4_1_AF_joint_XX=0.1356;gnomADv4_1_AF_joint_XY=0.13312;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152112;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1478;gnomADv4_1_nhomalt_joint_XX=780;gnomADv4_1_nhomalt_joint_XY=698;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27286636 chr22_27286636_A_G A G 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=22.4;CADD_Rawscore=3.40339;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||||||||||rs13054977|287|1||||3||||||||Ensembl||A|A||||chr22:g.27286636A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs13054977|3847|1||||||||||||Ensembl||A|A||||chr22:g.27286636A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=11970;gnomADv4_1_AC_joint_XX=6126;gnomADv4_1_AC_joint_XY=5844;gnomADv4_1_AF_grpmax_joint=0.182573;gnomADv4_1_AF_joint=0.0785877;gnomADv4_1_AF_joint_XX=0.0786959;gnomADv4_1_AF_joint_XY=0.0784746;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152314;gnomADv4_1_AN_joint_XX=77844;gnomADv4_1_AN_joint_XY=74470;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=613;gnomADv4_1_nhomalt_joint_XX=309;gnomADv4_1_nhomalt_joint_XY=304;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27287274 chr22_27287274_T_TAC;chr22_27287274_TACACACACAC_T T TAC 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=5.267;CADDIndel_Rawscore=0.481068;CSQ=AC|downstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||||||||||rs134814|925|1||||3||||||||Ensembl|||||||chr22:g.27287314_27287315dup|||||||||||||,AC|downstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs134814|4485|1||||||||||||Ensembl|||||||chr22:g.27287314_27287315dup|||||||||||||;TYPE=INDEL;VEP_Allele=AC,AC;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=28595;gnomADv4_1_AC_joint_XX=14893;gnomADv4_1_AC_joint_XY=13702;gnomADv4_1_AF_grpmax_joint=0.240173;gnomADv4_1_AF_joint=0.198949;gnomADv4_1_AF_joint_XX=0.200904;gnomADv4_1_AF_joint_XY=0.196868;gnomADv4_1_AN_grpmax_joint=65328;gnomADv4_1_AN_joint=143730;gnomADv4_1_AN_joint_XX=74130;gnomADv4_1_AN_joint_XY=69600;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2877;gnomADv4_1_nhomalt_joint_XX=1514;gnomADv4_1_nhomalt_joint_XY=1363;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27287274 chr22_27287274_T_TAC;chr22_27287274_TACACACACAC_T TACACACACAC T 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=4.705;CADDIndel_Rawscore=0.428578;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||||||||||rs134814|926|1||||3||||||||Ensembl||ACACACACAC|ACACACACAC||||chr22:g.27287306_27287315del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000783519|lncRNA||||||||||rs134814|4486|1||||||||||||Ensembl||ACACACACAC|ACACACACAC||||chr22:g.27287306_27287315del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000449126,ENST00000783519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000233574;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=13145;gnomADv4_1_AC_joint_XX=6762;gnomADv4_1_AC_joint_XY=6383;gnomADv4_1_AF_grpmax_joint=0.181655;gnomADv4_1_AF_joint=0.0913228;gnomADv4_1_AF_joint_XX=0.0910952;gnomADv4_1_AF_joint_XY=0.0915651;gnomADv4_1_AN_grpmax_joint=4448;gnomADv4_1_AN_joint=143940;gnomADv4_1_AN_joint_XX=74230;gnomADv4_1_AN_joint_XY=69710;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=584;gnomADv4_1_nhomalt_joint_XX=299;gnomADv4_1_nhomalt_joint_XY=285;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27288197 chr22_27288197_T_C T C 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.347;CADD_Rawscore=-0.28491;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||||||||||rs134815|1848|1||||3||||||||Ensembl||T|T||||chr22:g.27288197T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||||||||||rs134815|4110|-1||||||||||||Ensembl||T|T||||chr22:g.27288197T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000449126,ENST00000836461;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000223726;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=96366;gnomADv4_1_AC_joint_XX=49754;gnomADv4_1_AC_joint_XY=46612;gnomADv4_1_AF_grpmax_joint=0.850275;gnomADv4_1_AF_joint=0.633953;gnomADv4_1_AF_joint_XX=0.640252;gnomADv4_1_AF_joint_XY=0.627365;gnomADv4_1_AN_grpmax_joint=41456;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=32384;gnomADv4_1_nhomalt_joint_XX=16860;gnomADv4_1_nhomalt_joint_XY=15524;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27289708 chr22_27289708_A_G A G 56 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.604;CADD_Rawscore=-0.145776;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||||||||||rs1807718|3359|1||||3||||||||Ensembl||A|A||||chr22:g.27289708A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||||||||||rs1807718|2599|-1||||||||||||Ensembl||A|A||||chr22:g.27289708A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000449126,ENST00000836461;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000223726;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=24496;gnomADv4_1_AC_joint_XX=12722;gnomADv4_1_AC_joint_XY=11774;gnomADv4_1_AF_grpmax_joint=0.240874;gnomADv4_1_AF_joint=0.163091;gnomADv4_1_AF_joint_XX=0.165586;gnomADv4_1_AF_joint_XY=0.160479;gnomADv4_1_AN_grpmax_joint=67226;gnomADv4_1_AN_joint=150198;gnomADv4_1_AN_joint_XX=76830;gnomADv4_1_AN_joint_XY=73368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2466;gnomADv4_1_nhomalt_joint_XX=1312;gnomADv4_1_nhomalt_joint_XY=1154;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27289717 chr22_27289717_G_GA G GA 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=1.025;CADDIndel_Rawscore=-0.01142;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000233574|Transcript|ENST00000449126|lncRNA||||||||||rs5844752|3368|1||||3||||||||Ensembl|||||||chr22:g.27289726dup|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||||||||||rs5844752|2589|-1||||||||||||Ensembl|||||||chr22:g.27289726dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A;VEP_Feature=ENST00000449126,ENST00000836461;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000233574,ENSG00000223726;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=39311;gnomADv4_1_AC_joint_XX=20284;gnomADv4_1_AC_joint_XY=19027;gnomADv4_1_AF_grpmax_joint=0.337986;gnomADv4_1_AF_joint=0.259822;gnomADv4_1_AF_joint_XX=0.262067;gnomADv4_1_AF_joint_XY=0.25747;gnomADv4_1_AN_grpmax_joint=67778;gnomADv4_1_AN_joint=151300;gnomADv4_1_AN_joint_XX=77400;gnomADv4_1_AN_joint_XY=73900;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5760;gnomADv4_1_nhomalt_joint_XX=2960;gnomADv4_1_nhomalt_joint_XY=2800;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27292374 chr22_27292374_C_T C T 35 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.261;CADD_Rawscore=-0.358217;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs713743|3755|-1||||||||||||Ensembl||C|C||||chr22:g.27292374C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs713743|3755|-1||||||||||||Ensembl||C|C||||chr22:g.27292374C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA|3/3||ENST00000836461.1:n.1027G>A||1027|||||rs713743||-1||||||||||||Ensembl||C|C||||chr22:g.27292374C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs713743|3755|-1||||||||||||Ensembl||C|C||||chr22:g.27292374C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=30932;gnomADv4_1_AC_joint_XX=15735;gnomADv4_1_AC_joint_XY=15197;gnomADv4_1_AF_grpmax_joint=0.310917;gnomADv4_1_AF_joint=0.203254;gnomADv4_1_AF_joint_XX=0.202301;gnomADv4_1_AF_joint_XY=0.20425;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152184;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3444;gnomADv4_1_nhomalt_joint_XX=1726;gnomADv4_1_nhomalt_joint_XY=1718;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27292655 chr22_27292655_G_A G A 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.003;CADD_Rawscore=-1.66534;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs737823|3474|-1||||||||||||Ensembl||G|G||||chr22:g.27292655G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs737823|3474|-1||||||||||||Ensembl||G|G||||chr22:g.27292655G>A|||||||||||||,A|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000223726|Transcript|ENST00000836461|lncRNA||2/2|ENST00000836461.1:n.759-13C>T|||||||rs737823||-1||||||||||||Ensembl||G|G||||chr22:g.27292655G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs737823|3474|-1||||||||||||Ensembl||G|G||||chr22:g.27292655G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=30987;gnomADv4_1_AC_joint_XX=15770;gnomADv4_1_AC_joint_XY=15217;gnomADv4_1_AF_grpmax_joint=0.311513;gnomADv4_1_AF_joint=0.20365;gnomADv4_1_AF_joint_XX=0.202767;gnomADv4_1_AF_joint_XY=0.204574;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3456;gnomADv4_1_nhomalt_joint_XX=1729;gnomADv4_1_nhomalt_joint_XY=1727;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27292746 chr22_27292746_A_G A G 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.393;CADD_Rawscore=-0.25334;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs516252|3383|-1||||||||||||Ensembl||A|A||||chr22:g.27292746A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs516252|3383|-1||||||||||||Ensembl||A|A||||chr22:g.27292746A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||2/2|ENST00000836461.1:n.759-104T>C|||||||rs516252||-1||||||||||||Ensembl||A|A||||chr22:g.27292746A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs516252|3383|-1||||||||||||Ensembl||A|A||||chr22:g.27292746A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=90051;gnomADv4_1_AC_joint_XX=46538;gnomADv4_1_AC_joint_XY=43513;gnomADv4_1_AF_grpmax_joint=0.824497;gnomADv4_1_AF_joint=0.591857;gnomADv4_1_AF_joint_XX=0.598267;gnomADv4_1_AF_joint_XY=0.585151;gnomADv4_1_AN_grpmax_joint=41532;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=28589;gnomADv4_1_nhomalt_joint_XX=14898;gnomADv4_1_nhomalt_joint_XY=13691;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27292774 chr22_27292774_CA_C CA C 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.387;CADDIndel_Rawscore=-0.257275;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs11295056|3354|-1||||||||||||Ensembl||A|A||||chr22:g.27292777del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs11295056|3354|-1||||||||||||Ensembl||A|A||||chr22:g.27292777del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||2/2|ENST00000836461.1:n.759-133del|||||||rs11295056||-1||||||||||||Ensembl||A|A||||chr22:g.27292777del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs11295056|3354|-1||||||||||||Ensembl||A|A||||chr22:g.27292777del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=30412;gnomADv4_1_AC_joint_XX=15479;gnomADv4_1_AC_joint_XY=14933;gnomADv4_1_AF_grpmax_joint=0.311489;gnomADv4_1_AF_joint=0.199897;gnomADv4_1_AF_joint_XX=0.198984;gnomADv4_1_AF_joint_XY=0.200853;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3294;gnomADv4_1_nhomalt_joint_XX=1645;gnomADv4_1_nhomalt_joint_XY=1649;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27293529 chr22_27293529_C_T C T 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.325;CADD_Rawscore=-0.301769;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs6005363|2600|-1||||||||||||Ensembl||C|C||||chr22:g.27293529C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs6005363|2600|-1||||||||||||Ensembl||C|C||||chr22:g.27293529C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||2/2|ENST00000836461.1:n.759-887G>A|||||||rs6005363||-1||||||||||||Ensembl||C|C||||chr22:g.27293529C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs6005363|2600|-1||||||||||||Ensembl||C|C||||chr22:g.27293529C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=22623;gnomADv4_1_AC_joint_XX=11556;gnomADv4_1_AC_joint_XY=11067;gnomADv4_1_AF_grpmax_joint=0.221088;gnomADv4_1_AF_joint=0.148695;gnomADv4_1_AF_joint_XX=0.148623;gnomADv4_1_AF_joint_XY=0.14877;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1723;gnomADv4_1_nhomalt_joint_XX=875;gnomADv4_1_nhomalt_joint_XY=848;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27293680 chr22_27293680_G_A G A 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.44;CADD_Rawscore=0.217082;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs737806|2449|-1||||||||||||Ensembl||G|G||||chr22:g.27293680G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs737806|2449|-1||||||||||||Ensembl||G|G||||chr22:g.27293680G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||2/2|ENST00000836461.1:n.759-1038C>T|||||||rs737806||-1||||||||||||Ensembl||G|G||||chr22:g.27293680G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs737806|2449|-1||||||||||||Ensembl||G|G||||chr22:g.27293680G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=29916;gnomADv4_1_AC_joint_XX=15213;gnomADv4_1_AC_joint_XY=14703;gnomADv4_1_AF_grpmax_joint=0.313929;gnomADv4_1_AF_joint=0.196694;gnomADv4_1_AF_joint_XX=0.195681;gnomADv4_1_AF_joint_XY=0.197754;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3144;gnomADv4_1_nhomalt_joint_XX=1568;gnomADv4_1_nhomalt_joint_XY=1576;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27293842 chr22_27293842_AT_A AT A 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.356;CADDIndel_Rawscore=-0.278783;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs3884693|2286|-1||||||||||||Ensembl||T|T||||chr22:g.27293845del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs3884693|2286|-1||||||||||||Ensembl||T|T||||chr22:g.27293845del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||2/2|ENST00000836461.1:n.759-1201del|||||||rs3884693||-1||||||||||||Ensembl||T|T||||chr22:g.27293845del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs3884693|2286|-1||||||||||||Ensembl||T|T||||chr22:g.27293845del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=29962;gnomADv4_1_AC_joint_XX=15227;gnomADv4_1_AC_joint_XY=14735;gnomADv4_1_AF_grpmax_joint=0.313281;gnomADv4_1_AF_joint=0.197129;gnomADv4_1_AF_joint_XX=0.195992;gnomADv4_1_AF_joint_XY=0.198318;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3164;gnomADv4_1_nhomalt_joint_XX=1579;gnomADv4_1_nhomalt_joint_XY=1585;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27294006 chr22_27294006_A_AT A AT 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=5.197;CADDIndel_Rawscore=0.474463;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs11410232|2122|-1||||||||||||Ensembl|||||||chr22:g.27294013dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs11410232|2122|-1||||||||||||Ensembl|||||||chr22:g.27294013dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||2/2|ENST00000836461.1:n.759-1365dup|||||||rs11410232||-1||||||||||||Ensembl|||||||chr22:g.27294013dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs11410232|2122|-1||||||||||||Ensembl|||||||chr22:g.27294013dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=30134;gnomADv4_1_AC_joint_XX=15328;gnomADv4_1_AC_joint_XY=14806;gnomADv4_1_AF_grpmax_joint=0.313439;gnomADv4_1_AF_joint=0.198224;gnomADv4_1_AF_joint_XX=0.197231;gnomADv4_1_AF_joint_XY=0.199262;gnomADv4_1_AN_grpmax_joint=4792;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3188;gnomADv4_1_nhomalt_joint_XX=1593;gnomADv4_1_nhomalt_joint_XY=1595;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27294017 chr22_27294017_G_A G A 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=10.85;CADD_Rawscore=1.04676;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs728804|2112|-1||||||||||||Ensembl||G|G||||chr22:g.27294017G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs728804|2112|-1||||||||||||Ensembl||G|G||||chr22:g.27294017G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||2/2|ENST00000836461.1:n.759-1375C>T|||||||rs728804||-1||||||||||||Ensembl||G|G||||chr22:g.27294017G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs728804|2112|-1||||||||||||Ensembl||G|G||||chr22:g.27294017G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=30023;gnomADv4_1_AC_joint_XX=15256;gnomADv4_1_AC_joint_XY=14767;gnomADv4_1_AF_grpmax_joint=0.313566;gnomADv4_1_AF_joint=0.19758;gnomADv4_1_AF_joint_XX=0.19639;gnomADv4_1_AF_joint_XY=0.198823;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=151954;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3180;gnomADv4_1_nhomalt_joint_XX=1588;gnomADv4_1_nhomalt_joint_XY=1592;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27294416 chr22_27294416_G_A G A 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.588;CADD_Rawscore=0.10307;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs768784|1713|-1||||||||||||Ensembl||G|G||||chr22:g.27294416G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs768784|1713|-1||||||||||||Ensembl||G|G||||chr22:g.27294416G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||2/2|ENST00000836461.1:n.758+1772C>T|||||||rs768784||-1||||||||||||Ensembl||G|G||||chr22:g.27294416G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs768784|1713|-1||||||||||||Ensembl||G|G||||chr22:g.27294416G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=30022;gnomADv4_1_AC_joint_XX=15252;gnomADv4_1_AC_joint_XY=14770;gnomADv4_1_AF_grpmax_joint=0.319594;gnomADv4_1_AF_joint=0.197329;gnomADv4_1_AF_joint_XX=0.196112;gnomADv4_1_AF_joint_XY=0.198602;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3183;gnomADv4_1_nhomalt_joint_XX=1589;gnomADv4_1_nhomalt_joint_XY=1594;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27294523 chr22_27294523_T_C T C 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.08;CADD_Rawscore=-0.673126;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs768785|1606|-1||||||||||||Ensembl||T|T||||chr22:g.27294523T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs768785|1606|-1||||||||||||Ensembl||T|T||||chr22:g.27294523T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||2/2|ENST00000836461.1:n.758+1665A>G|||||||rs768785||-1||||||||||||Ensembl||T|T||||chr22:g.27294523T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs768785|1606|-1||||||||||||Ensembl||T|T||||chr22:g.27294523T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=54175;gnomADv4_1_AC_joint_XX=27956;gnomADv4_1_AC_joint_XY=26219;gnomADv4_1_AF_grpmax_joint=0.591681;gnomADv4_1_AF_joint=0.356204;gnomADv4_1_AF_joint_XX=0.359544;gnomADv4_1_AF_joint_XY=0.352709;gnomADv4_1_AN_grpmax_joint=41470;gnomADv4_1_AN_joint=152090;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11454;gnomADv4_1_nhomalt_joint_XX=5961;gnomADv4_1_nhomalt_joint_XY=5493;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27294722 chr22_27294722_A_G A G 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.572;CADD_Rawscore=0.100412;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs6005364|1407|-1||||||||||||Ensembl||A|A||||chr22:g.27294722A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs6005364|1407|-1||||||||||||Ensembl||A|A||||chr22:g.27294722A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||2/2|ENST00000836461.1:n.758+1466T>C|||||||rs6005364||-1||||||||||||Ensembl||A|A||||chr22:g.27294722A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs6005364|1407|-1||||||||||||Ensembl||A|A||||chr22:g.27294722A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=30222;gnomADv4_1_AC_joint_XX=15359;gnomADv4_1_AC_joint_XY=14863;gnomADv4_1_AF_grpmax_joint=0.31856;gnomADv4_1_AF_joint=0.198557;gnomADv4_1_AF_joint_XX=0.197452;gnomADv4_1_AF_joint_XY=0.199712;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=152208;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3234;gnomADv4_1_nhomalt_joint_XX=1619;gnomADv4_1_nhomalt_joint_XY=1615;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27295065 chr22_27295065_A_G A G 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.323;CADD_Rawscore=-0.303321;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs563325|1064|-1||||||||||||Ensembl||A|A||||chr22:g.27295065A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs563325|1064|-1||||||||||||Ensembl||A|A||||chr22:g.27295065A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||2/2|ENST00000836461.1:n.758+1123T>C|||||||rs563325||-1||||||||||||Ensembl||A|A||||chr22:g.27295065A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs563325|1064|-1||||||||||||Ensembl||A|A||||chr22:g.27295065A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=58478;gnomADv4_1_AC_joint_XX=30194;gnomADv4_1_AC_joint_XY=28284;gnomADv4_1_AF_grpmax_joint=0.687627;gnomADv4_1_AF_joint=0.384466;gnomADv4_1_AF_joint_XX=0.388357;gnomADv4_1_AF_joint_XY=0.380396;gnomADv4_1_AN_grpmax_joint=41476;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=14136;gnomADv4_1_nhomalt_joint_XX=7374;gnomADv4_1_nhomalt_joint_XY=6762;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27295324 chr22_27295324_G_T G T 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=5.397;CADD_Rawscore=0.49361;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs6005365|805|-1||||||||||||Ensembl||G|G||||chr22:g.27295324G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs6005365|805|-1||||||||||||Ensembl||G|G||||chr22:g.27295324G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||2/2|ENST00000836461.1:n.758+864C>A|||||||rs6005365||-1||||||||||||Ensembl||G|G||||chr22:g.27295324G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs6005365|805|-1||||||||||||Ensembl||G|G||||chr22:g.27295324G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=23206;gnomADv4_1_AC_joint_XX=11804;gnomADv4_1_AC_joint_XY=11402;gnomADv4_1_AF_grpmax_joint=0.2766;gnomADv4_1_AF_joint=0.152519;gnomADv4_1_AF_joint_XX=0.151781;gnomADv4_1_AF_joint_XY=0.15329;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1845;gnomADv4_1_nhomalt_joint_XX=934;gnomADv4_1_nhomalt_joint_XY=911;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27295701 chr22_27295701_CATGGATGG_C CATGGATGG C 43 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.93;CADDIndel_Rawscore=-0.036417;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs3061919|420|-1||||||||||||Ensembl||ATGGATGG|ATGGATGG||||chr22:g.27295744_27295751del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs3061919|420|-1||||||||||||Ensembl||ATGGATGG|ATGGATGG||||chr22:g.27295744_27295751del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||2/2|ENST00000836461.1:n.758+479_758+486del|||||||rs3061919||-1||||||||||||Ensembl||ATGGATGG|ATGGATGG||||chr22:g.27295744_27295751del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs3061919|420|-1||||||||||||Ensembl||ATGGATGG|ATGGATGG||||chr22:g.27295744_27295751del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=53369;gnomADv4_1_AC_joint_XX=27640;gnomADv4_1_AC_joint_XY=25729;gnomADv4_1_AF_grpmax_joint=0.44898;gnomADv4_1_AF_joint=0.361295;gnomADv4_1_AF_joint_XX=0.364298;gnomADv4_1_AF_joint_XY=0.358123;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=147716;gnomADv4_1_AN_joint_XX=75872;gnomADv4_1_AN_joint_XY=71844;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9885;gnomADv4_1_nhomalt_joint_XX=5170;gnomADv4_1_nhomalt_joint_XY=4715;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27296093 chr22_27296093_G_A G A 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.523;CADD_Rawscore=-0.181723;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs13054961|36|-1||||||||||||Ensembl||G|G||||chr22:g.27296093G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs13054961|36|-1||||||||||||Ensembl||G|G||||chr22:g.27296093G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||2/2|ENST00000836461.1:n.758+95C>T|||||||rs13054961||-1||||||||||||Ensembl||G|G||||chr22:g.27296093G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs13054961|36|-1||||||||||||Ensembl||G|G||||chr22:g.27296093G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=46360;gnomADv4_1_AC_joint_XX=23978;gnomADv4_1_AC_joint_XY=22382;gnomADv4_1_AF_grpmax_joint=0.485272;gnomADv4_1_AF_joint=0.304803;gnomADv4_1_AF_joint_XX=0.308462;gnomADv4_1_AF_joint_XY=0.300979;gnomADv4_1_AN_grpmax_joint=41486;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8217;gnomADv4_1_nhomalt_joint_XX=4301;gnomADv4_1_nhomalt_joint_XY=3916;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27296889 chr22_27296889_CTCAT_C CTCAT C 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=4.067;CADDIndel_Rawscore=0.371213;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-49_387-46del|||||||rs150024730||-1||||||||||||Ensembl||TCAT|TCAT||||chr22:g.27296909_27296912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-49_429-46del|||||||rs150024730||-1||||||||||||Ensembl||TCAT|TCAT||||chr22:g.27296909_27296912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||1/2|ENST00000836461.1:n.102-49_102-46del|||||||rs150024730||-1||||||||||||Ensembl||TCAT|TCAT||||chr22:g.27296909_27296912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||1/1|ENST00000836462.1:n.216-49_216-46del|||||||rs150024730||-1||||||||||||Ensembl||TCAT|TCAT||||chr22:g.27296909_27296912del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=23098;gnomADv4_1_AC_joint_XX=12027;gnomADv4_1_AC_joint_XY=11071;gnomADv4_1_AF_grpmax_joint=0.229904;gnomADv4_1_AF_joint=0.152083;gnomADv4_1_AF_joint_XX=0.154883;gnomADv4_1_AF_joint_XY=0.149153;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=151878;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1927;gnomADv4_1_nhomalt_joint_XX=998;gnomADv4_1_nhomalt_joint_XY=929;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27297160 chr22_27297160_C_T C T 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.481;CADD_Rawscore=-0.20266;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-316G>A|||||||rs6005366||-1||||||||||||Ensembl||C|C||||chr22:g.27297160C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-316G>A|||||||rs6005366||-1||||||||||||Ensembl||C|C||||chr22:g.27297160C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||1/2|ENST00000836461.1:n.102-316G>A|||||||rs6005366||-1||||||||||||Ensembl||C|C||||chr22:g.27297160C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||1/1|ENST00000836462.1:n.216-316G>A|||||||rs6005366||-1||||||||||||Ensembl||C|C||||chr22:g.27297160C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=19248;gnomADv4_1_AC_joint_XX=9759;gnomADv4_1_AC_joint_XY=9489;gnomADv4_1_AF_grpmax_joint=0.217687;gnomADv4_1_AF_joint=0.126422;gnomADv4_1_AF_joint_XX=0.125431;gnomADv4_1_AF_joint_XY=0.127458;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152252;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1274;gnomADv4_1_nhomalt_joint_XX=635;gnomADv4_1_nhomalt_joint_XY=639;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27297813 chr22_27297813_T_C T C 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=10.4;CADD_Rawscore=1.00576;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-969A>G|||||||rs117039602||-1||||||||||||Ensembl||T|T||||chr22:g.27297813T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-969A>G|||||||rs117039602||-1||||||||||||Ensembl||T|T||||chr22:g.27297813T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||1/2|ENST00000836461.1:n.102-969A>G|||||||rs117039602||-1||||||||||||Ensembl||T|T||||chr22:g.27297813T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||1/1|ENST00000836462.1:n.216-969A>G|||||||rs117039602||-1||||||||||||Ensembl||T|T||||chr22:g.27297813T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=2561;gnomADv4_1_AC_joint_XX=1332;gnomADv4_1_AC_joint_XY=1229;gnomADv4_1_AF_grpmax_joint=0.0256976;gnomADv4_1_AF_joint=0.0168279;gnomADv4_1_AF_joint_XX=0.0171239;gnomADv4_1_AF_joint_XY=0.0165184;gnomADv4_1_AN_grpmax_joint=68022;gnomADv4_1_AN_joint=152188;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=29;gnomADv4_1_nhomalt_joint_XX=6;gnomADv4_1_nhomalt_joint_XY=23;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27298207 chr22_27298207_CGTGTGT_C;chr22_27298207_C_CGTGT CGTGTGT C 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=29;CADDIndel_PHREDscore=0.834;CADDIndel_Rawscore=-0.064475;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-1369_387-1364del|||||||rs4038965||-1||||||||||||Ensembl||GTGTGT|GTGTGT||||chr22:g.27298244_27298249del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-1369_429-1364del|||||||rs4038965||-1||||||||||||Ensembl||GTGTGT|GTGTGT||||chr22:g.27298244_27298249del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||1/2|ENST00000836461.1:n.101+1127_101+1132del|||||||rs4038965||-1||||||||||||Ensembl||GTGTGT|GTGTGT||||chr22:g.27298244_27298249del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||1/1|ENST00000836462.1:n.215+1127_215+1132del|||||||rs4038965||-1||||||||||||Ensembl||GTGTGT|GTGTGT||||chr22:g.27298244_27298249del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=49125;gnomADv4_1_AC_joint_XX=24981;gnomADv4_1_AC_joint_XY=24144;gnomADv4_1_AF_grpmax_joint=0.515922;gnomADv4_1_AF_joint=0.345629;gnomADv4_1_AF_joint_XX=0.340535;gnomADv4_1_AF_joint_XY=0.351063;gnomADv4_1_AN_grpmax_joint=4836;gnomADv4_1_AN_joint=142132;gnomADv4_1_AN_joint_XX=73358;gnomADv4_1_AN_joint_XY=68774;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8503;gnomADv4_1_nhomalt_joint_XX=4281;gnomADv4_1_nhomalt_joint_XY=4222;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27298207 chr22_27298207_CGTGTGT_C;chr22_27298207_C_CGTGT C CGTGT 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=27;CADDIndel_PHREDscore=0.081;CADDIndel_Rawscore=-0.668717;CSQ=GTGT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-1367_387-1364dup|||||||rs4038965||-1||||||||||||Ensembl|||||||chr22:g.27298246_27298249dup|||||||||||||,GTGT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-1367_429-1364dup|||||||rs4038965||-1||||||||||||Ensembl|||||||chr22:g.27298246_27298249dup|||||||||||||,GTGT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||1/2|ENST00000836461.1:n.101+1129_101+1132dup|||||||rs4038965||-1||||||||||||Ensembl|||||||chr22:g.27298246_27298249dup|||||||||||||,GTGT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||1/1|ENST00000836462.1:n.215+1129_215+1132dup|||||||rs4038965||-1||||||||||||Ensembl|||||||chr22:g.27298246_27298249dup|||||||||||||;TYPE=INDEL;VEP_Allele=GTGT,GTGT,GTGT,GTGT;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=12704;gnomADv4_1_AC_joint_XX=6766;gnomADv4_1_AC_joint_XY=5938;gnomADv4_1_AF_grpmax_joint=0.167383;gnomADv4_1_AF_joint=0.0893314;gnomADv4_1_AF_joint_XX=0.0921823;gnomADv4_1_AF_joint_XY=0.0862906;gnomADv4_1_AN_grpmax_joint=38158;gnomADv4_1_AN_joint=142212;gnomADv4_1_AN_joint_XX=73398;gnomADv4_1_AN_joint_XY=68814;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=720;gnomADv4_1_nhomalt_joint_XX=368;gnomADv4_1_nhomalt_joint_XY=352;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27299096 chr22_27299096_C_T C T 34 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.257;CADD_Rawscore=-0.361946;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-2252G>A|||||||rs480666||-1||||||||||||Ensembl||C|C||||chr22:g.27299096C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-2252G>A|||||||rs480666||-1||||||||||||Ensembl||C|C||||chr22:g.27299096C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||1/2|ENST00000836461.1:n.101+244G>A|||||||rs480666||-1||||||||||||Ensembl||C|C||||chr22:g.27299096C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||1/1|ENST00000836462.1:n.215+244G>A|||||||rs480666||-1||||||||||||Ensembl||C|C||||chr22:g.27299096C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=75922;gnomADv4_1_AC_joint_XX=38885;gnomADv4_1_AC_joint_XY=37037;gnomADv4_1_AF_grpmax_joint=0.758478;gnomADv4_1_AF_joint=0.503796;gnomADv4_1_AF_joint_XX=0.504214;gnomADv4_1_AF_joint_XY=0.503357;gnomADv4_1_AN_grpmax_joint=5072;gnomADv4_1_AN_joint=150700;gnomADv4_1_AN_joint_XX=77120;gnomADv4_1_AN_joint_XY=73580;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19517;gnomADv4_1_nhomalt_joint_XX=10038;gnomADv4_1_nhomalt_joint_XY=9479;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27300952 chr22_27300952_T_C T C 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.004;CADD_Rawscore=-1.60434;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-4108A>G|||||||rs11090481||-1||||||||||||Ensembl||T|T||||chr22:g.27300952T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-4108A>G|||||||rs11090481||-1||||||||||||Ensembl||T|T||||chr22:g.27300952T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||||||||||rs11090481|1512|-1||||||||||||Ensembl||T|T||||chr22:g.27300952T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs11090481|1398|-1||||||||||||Ensembl||T|T||||chr22:g.27300952T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=28829;gnomADv4_1_AC_joint_XX=14678;gnomADv4_1_AC_joint_XY=14151;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.189487;gnomADv4_1_AF_joint_XX=0.188755;gnomADv4_1_AF_joint_XY=0.190253;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2829;gnomADv4_1_nhomalt_joint_XX=1426;gnomADv4_1_nhomalt_joint_XY=1403;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27301051 chr22_27301051_A_G A G 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.637;CADD_Rawscore=0.111149;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-4207T>C|||||||rs12165810||-1||||||||||||Ensembl||A|A||||chr22:g.27301051A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-4207T>C|||||||rs12165810||-1||||||||||||Ensembl||A|A||||chr22:g.27301051A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||||||||||rs12165810|1611|-1||||||||||||Ensembl||A|A||||chr22:g.27301051A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs12165810|1497|-1||||||||||||Ensembl||A|A||||chr22:g.27301051A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=28914;gnomADv4_1_AC_joint_XX=14718;gnomADv4_1_AC_joint_XY=14196;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.189976;gnomADv4_1_AF_joint_XX=0.189207;gnomADv4_1_AF_joint_XY=0.190781;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2845;gnomADv4_1_nhomalt_joint_XX=1436;gnomADv4_1_nhomalt_joint_XY=1409;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27301395 chr22_27301395_A_T A T 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.535;CADD_Rawscore=-0.176162;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-4551T>A|||||||rs12165996||-1||||||||||||Ensembl||A|A||||chr22:g.27301395A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-4551T>A|||||||rs12165996||-1||||||||||||Ensembl||A|A||||chr22:g.27301395A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||||||||||rs12165996|1955|-1||||||||||||Ensembl||A|A||||chr22:g.27301395A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs12165996|1841|-1||||||||||||Ensembl||A|A||||chr22:g.27301395A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=28736;gnomADv4_1_AC_joint_XX=14655;gnomADv4_1_AC_joint_XY=14081;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.18915;gnomADv4_1_AF_joint_XX=0.188634;gnomADv4_1_AF_joint_XY=0.189689;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151922;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2807;gnomADv4_1_nhomalt_joint_XX=1425;gnomADv4_1_nhomalt_joint_XY=1382;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27301804 chr22_27301804_G_T G T 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=3.111;CADD_Rawscore=0.285017;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-4960C>A|||||||rs71325232||-1||||||||||||Ensembl||G|G||||chr22:g.27301804G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-4960C>A|||||||rs71325232||-1||||||||||||Ensembl||G|G||||chr22:g.27301804G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||||||||||rs71325232|2364|-1||||||||||||Ensembl||G|G||||chr22:g.27301804G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs71325232|2250|-1||||||||||||Ensembl||G|G||||chr22:g.27301804G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=28460;gnomADv4_1_AC_joint_XX=14530;gnomADv4_1_AC_joint_XY=13930;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.188542;gnomADv4_1_AF_joint_XX=0.187877;gnomADv4_1_AF_joint_XY=0.189241;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=150948;gnomADv4_1_AN_joint_XX=77338;gnomADv4_1_AN_joint_XY=73610;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2775;gnomADv4_1_nhomalt_joint_XX=1408;gnomADv4_1_nhomalt_joint_XY=1367;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27301959 chr22_27301959_GT_G GT G 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.237;CADDIndel_Rawscore=-0.382838;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-5116del|||||||rs71192994||-1||||||||||||Ensembl||T|T||||chr22:g.27301967del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-5116del|||||||rs71192994||-1||||||||||||Ensembl||T|T||||chr22:g.27301967del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||||||||||rs71192994|2520|-1||||||||||||Ensembl||T|T||||chr22:g.27301967del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs71192994|2406|-1||||||||||||Ensembl||T|T||||chr22:g.27301967del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=28570;gnomADv4_1_AC_joint_XX=14554;gnomADv4_1_AC_joint_XY=14016;gnomADv4_1_AF_grpmax_joint=0.253425;gnomADv4_1_AF_joint=0.188753;gnomADv4_1_AF_joint_XX=0.187992;gnomADv4_1_AF_joint_XY=0.189549;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151362;gnomADv4_1_AN_joint_XX=77418;gnomADv4_1_AN_joint_XY=73944;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2806;gnomADv4_1_nhomalt_joint_XX=1412;gnomADv4_1_nhomalt_joint_XY=1394;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27302110 chr22_27302110_A_G A G 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=2.503;CADD_Rawscore=0.224057;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-5266T>C|||||||rs71325233||-1||||||||||||Ensembl||A|A||||chr22:g.27302110A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-5266T>C|||||||rs71325233||-1||||||||||||Ensembl||A|A||||chr22:g.27302110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||||||||||rs71325233|2670|-1||||||||||||Ensembl||A|A||||chr22:g.27302110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs71325233|2556|-1||||||||||||Ensembl||A|A||||chr22:g.27302110A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=28803;gnomADv4_1_AC_joint_XX=14670;gnomADv4_1_AC_joint_XY=14133;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.189302;gnomADv4_1_AF_joint_XX=0.188609;gnomADv4_1_AF_joint_XY=0.190026;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2831;gnomADv4_1_nhomalt_joint_XX=1431;gnomADv4_1_nhomalt_joint_XY=1400;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27302256 chr22_27302256_G_A G A 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.289;CADD_Rawscore=-0.331451;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs11912637|4992|-1||||4||||||||Ensembl||G|G||||chr22:g.27302256G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-5412C>T|||||||rs11912637||-1||||||||||||Ensembl||G|G||||chr22:g.27302256G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-5412C>T|||||||rs11912637||-1||||||||||||Ensembl||G|G||||chr22:g.27302256G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||||||||||rs11912637|2816|-1||||||||||||Ensembl||G|G||||chr22:g.27302256G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs11912637|2702|-1||||||||||||Ensembl||G|G||||chr22:g.27302256G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000454387,ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=28719;gnomADv4_1_AC_joint_XX=14625;gnomADv4_1_AC_joint_XY=14094;gnomADv4_1_AF_grpmax_joint=0.256849;gnomADv4_1_AF_joint=0.188693;gnomADv4_1_AF_joint_XX=0.187997;gnomADv4_1_AF_joint_XY=0.18942;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152200;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2820;gnomADv4_1_nhomalt_joint_XX=1422;gnomADv4_1_nhomalt_joint_XY=1398;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27302436 chr22_27302436_T_G T G 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=4.119;CADD_Rawscore=0.375834;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs11090482|4812|-1||||4||||||||Ensembl||T|T||||chr22:g.27302436T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-5592A>C|||||||rs11090482||-1||||||||||||Ensembl||T|T||||chr22:g.27302436T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-5592A>C|||||||rs11090482||-1||||||||||||Ensembl||T|T||||chr22:g.27302436T>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||||||||||rs11090482|2996|-1||||||||||||Ensembl||T|T||||chr22:g.27302436T>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs11090482|2882|-1||||||||||||Ensembl||T|T||||chr22:g.27302436T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000454387,ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=28858;gnomADv4_1_AC_joint_XX=14708;gnomADv4_1_AC_joint_XY=14150;gnomADv4_1_AF_grpmax_joint=0.256849;gnomADv4_1_AF_joint=0.189613;gnomADv4_1_AF_joint_XX=0.189063;gnomADv4_1_AF_joint_XY=0.190188;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2844;gnomADv4_1_nhomalt_joint_XX=1442;gnomADv4_1_nhomalt_joint_XY=1402;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27302588 chr22_27302588_C_T C T 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=0.587;CADD_Rawscore=-0.153121;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs73153956|4660|-1||||4||||||||Ensembl||C|C||||chr22:g.27302588C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-5744G>A|||||||rs73153956||-1||||||||||||Ensembl||C|C||||chr22:g.27302588C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-5744G>A|||||||rs73153956||-1||||||||||||Ensembl||C|C||||chr22:g.27302588C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||||||||||rs73153956|3148|-1||||||||||||Ensembl||C|C||||chr22:g.27302588C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs73153956|3034|-1||||||||||||Ensembl||C|C||||chr22:g.27302588C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000454387,ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726;VEP_SYMBOL=.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=5714;gnomADv4_1_AC_joint_XX=2818;gnomADv4_1_AC_joint_XY=2896;gnomADv4_1_AF_grpmax_joint=0.103656;gnomADv4_1_AF_joint=0.0375333;gnomADv4_1_AF_joint_XX=0.0362108;gnomADv4_1_AF_joint_XY=0.0389164;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=167;gnomADv4_1_nhomalt_joint_XX=62;gnomADv4_1_nhomalt_joint_XY=105;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27303407 chr22_27303407_T_TAC T TAC 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.243;CADDIndel_Rawscore=-0.375761;CSQ=AC|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs57032843|3840|-1||||4||||||||Ensembl|||||||chr22:g.27303408_27303409insCA|||||||||||||,AC|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs57032843|4394|1||HGNC|HGNC:53594|||||||||Ensembl|||||||chr22:g.27303408_27303409insCA|||||||||||||,AC|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs57032843|4369|1||HGNC|HGNC:53594|||||||||Ensembl|||||||chr22:g.27303408_27303409insCA|||||||||||||,AC|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs57032843|4394|1||HGNC|HGNC:53594|||||||||Ensembl|||||||chr22:g.27303408_27303409insCA|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-6564_387-6563insGT|||||||rs57032843||-1||||||||||||Ensembl|||||||chr22:g.27303408_27303409insCA|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-6564_429-6563insGT|||||||rs57032843||-1||||||||||||Ensembl|||||||chr22:g.27303408_27303409insCA|||||||||||||,AC|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||||||||||rs57032843|3967|-1||||||||||||Ensembl|||||||chr22:g.27303408_27303409insCA|||||||||||||,AC|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs57032843|3853|-1||||||||||||Ensembl|||||||chr22:g.27303408_27303409insCA|||||||||||||,AC|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs57032843|4383|1||HGNC|HGNC:53594|||||||||Ensembl|||||||chr22:g.27303408_27303409insCA|||||||||||||,AC|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs57032843|4379|1||HGNC|HGNC:53594|||||||||Ensembl|||||||chr22:g.27303408_27303409insCA|||||||||||||;TYPE=INDEL;VEP_Allele=AC,AC,AC,AC,AC,AC,AC,AC,AC,AC;VEP_Feature=ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462,ENST00000836529,ENST00000836530;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741;VEP_SYMBOL=.,LINC02554,LINC02554,LINC02554,.,.,.,.,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28750;gnomADv4_1_AC_joint_XX=14655;gnomADv4_1_AC_joint_XY=14095;gnomADv4_1_AF_grpmax_joint=0.25;gnomADv4_1_AF_joint=0.189095;gnomADv4_1_AF_joint_XX=0.188503;gnomADv4_1_AF_joint_XY=0.189714;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2817;gnomADv4_1_nhomalt_joint_XX=1426;gnomADv4_1_nhomalt_joint_XY=1391;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27304328 chr22_27304328_G_A G A 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=9.511;CADD_Rawscore=0.925567;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs9625199|2920|-1||||4||||||||Ensembl||G|G||||chr22:g.27304328G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs9625199|3474|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27304328G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs9625199|3449|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27304328G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs9625199|3474|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27304328G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-7484C>T|||||||rs9625199||-1||||||||||||Ensembl||G|G||||chr22:g.27304328G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-7484C>T|||||||rs9625199||-1||||||||||||Ensembl||G|G||||chr22:g.27304328G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||||||||||rs9625199|4888|-1||||||||||||Ensembl||G|G||||chr22:g.27304328G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs9625199|4774|-1||||||||||||Ensembl||G|G||||chr22:g.27304328G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs9625199|3463|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27304328G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs9625199|3459|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27304328G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462,ENST00000836529,ENST00000836530;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741;VEP_SYMBOL=.,LINC02554,LINC02554,LINC02554,.,.,.,.,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28638;gnomADv4_1_AC_joint_XX=14607;gnomADv4_1_AC_joint_XY=14031;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.188249;gnomADv4_1_AF_joint_XX=0.187852;gnomADv4_1_AF_joint_XY=0.188665;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152128;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2798;gnomADv4_1_nhomalt_joint_XX=1416;gnomADv4_1_nhomalt_joint_XY=1382;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27304357 chr22_27304357_C_T C T 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.137;CADD_Rawscore=0.01556;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs9625200|2891|-1||||4||||||||Ensembl||C|C||||chr22:g.27304357C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs9625200|3445|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27304357C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs9625200|3420|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27304357C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs9625200|3445|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27304357C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-7513G>A|||||||rs9625200||-1||||||||||||Ensembl||C|C||||chr22:g.27304357C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-7513G>A|||||||rs9625200||-1||||||||||||Ensembl||C|C||||chr22:g.27304357C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836461|lncRNA||||||||||rs9625200|4917|-1||||||||||||Ensembl||C|C||||chr22:g.27304357C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836462|lncRNA||||||||||rs9625200|4803|-1||||||||||||Ensembl||C|C||||chr22:g.27304357C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs9625200|3434|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27304357C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs9625200|3430|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27304357C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836461,ENST00000836462,ENST00000836529,ENST00000836530;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741;VEP_SYMBOL=.,LINC02554,LINC02554,LINC02554,.,.,.,.,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28643;gnomADv4_1_AC_joint_XX=14600;gnomADv4_1_AC_joint_XY=14043;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.188275;gnomADv4_1_AF_joint_XX=0.187781;gnomADv4_1_AF_joint_XY=0.188791;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2804;gnomADv4_1_nhomalt_joint_XX=1417;gnomADv4_1_nhomalt_joint_XY=1387;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27304958 chr22_27304958_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=8.025;CADD_Rawscore=0.771507;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs507070|2290|-1||||4||||||||Ensembl||T|T||||chr22:g.27304958T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs507070|2844|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27304958T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs507070|2819|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27304958T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs507070|2844|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27304958T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-8114A>G|||||||rs507070||-1||||||||||||Ensembl||T|T||||chr22:g.27304958T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-8114A>G|||||||rs507070||-1||||||||||||Ensembl||T|T||||chr22:g.27304958T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs507070|2833|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27304958T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs507070|2829|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27304958T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741;VEP_SYMBOL=.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=83115;gnomADv4_1_AC_joint_XX=42297;gnomADv4_1_AC_joint_XY=40818;gnomADv4_1_AF_grpmax_joint=0.827197;gnomADv4_1_AF_joint=0.546514;gnomADv4_1_AF_joint_XX=0.544041;gnomADv4_1_AF_joint_XY=0.549101;gnomADv4_1_AN_grpmax_joint=41504;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25371;gnomADv4_1_nhomalt_joint_XX=12860;gnomADv4_1_nhomalt_joint_XY=12511;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27305051 chr22_27305051_C_T C T 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.007;CADD_Rawscore=-1.38305;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs507915|2197|-1||||4||||||||Ensembl||C|C||||chr22:g.27305051C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs507915|2751|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27305051C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs507915|2726|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27305051C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs507915|2751|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27305051C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-8207G>A|||||||rs507915||-1||||||||||||Ensembl||C|C||||chr22:g.27305051C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-8207G>A|||||||rs507915||-1||||||||||||Ensembl||C|C||||chr22:g.27305051C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs507915|2740|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27305051C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs507915|2736|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27305051C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741;VEP_SYMBOL=.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84068;gnomADv4_1_AC_joint_XX=42850;gnomADv4_1_AC_joint_XY=41218;gnomADv4_1_AF_grpmax_joint=0.852421;gnomADv4_1_AF_joint=0.553742;gnomADv4_1_AF_joint_XX=0.551679;gnomADv4_1_AF_joint_XY=0.555903;gnomADv4_1_AN_grpmax_joint=41422;gnomADv4_1_AN_joint=151818;gnomADv4_1_AN_joint_XX=77672;gnomADv4_1_AN_joint_XY=74146;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26232;gnomADv4_1_nhomalt_joint_XX=13359;gnomADv4_1_nhomalt_joint_XY=12873;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27305356 chr22_27305356_C_T C T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=10.81;CADD_Rawscore=1.04295;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs79136|1892|-1||||4||||||||Ensembl||C|C||||chr22:g.27305356C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs79136|2446|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27305356C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs79136|2421|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27305356C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs79136|2446|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27305356C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-8512G>A|||||||rs79136||-1||||||||||||Ensembl||C|C||||chr22:g.27305356C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-8512G>A|||||||rs79136||-1||||||||||||Ensembl||C|C||||chr22:g.27305356C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs79136|2435|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27305356C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs79136|2431|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27305356C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741;VEP_SYMBOL=.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84016;gnomADv4_1_AC_joint_XX=42771;gnomADv4_1_AC_joint_XY=41245;gnomADv4_1_AF_grpmax_joint=0.84885;gnomADv4_1_AF_joint=0.552831;gnomADv4_1_AF_joint_XX=0.55052;gnomADv4_1_AF_joint_XY=0.555249;gnomADv4_1_AN_grpmax_joint=41482;gnomADv4_1_AN_joint=151974;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26146;gnomADv4_1_nhomalt_joint_XX=13284;gnomADv4_1_nhomalt_joint_XY=12862;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27305594 chr22_27305594_C_T C T 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.121;CADD_Rawscore=-0.559967;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs16984203|1654|-1||||4||||||||Ensembl||C|C||||chr22:g.27305594C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs16984203|2208|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27305594C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs16984203|2183|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27305594C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs16984203|2208|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27305594C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-8750G>A|||||||rs16984203||-1||||||||||||Ensembl||C|C||||chr22:g.27305594C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-8750G>A|||||||rs16984203||-1||||||||||||Ensembl||C|C||||chr22:g.27305594C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs16984203|2197|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27305594C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs16984203|2193|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27305594C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741;VEP_SYMBOL=.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28712;gnomADv4_1_AC_joint_XX=14625;gnomADv4_1_AC_joint_XY=14087;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.188761;gnomADv4_1_AF_joint_XX=0.188079;gnomADv4_1_AF_joint_XY=0.189474;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152108;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2821;gnomADv4_1_nhomalt_joint_XX=1425;gnomADv4_1_nhomalt_joint_XY=1396;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27305647 chr22_27305647_A_G A G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.522;CADD_Rawscore=-0.182261;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs71325235|1601|-1||||4||||||||Ensembl||A|A||||chr22:g.27305647A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs71325235|2155|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27305647A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs71325235|2130|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27305647A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs71325235|2155|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27305647A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-8803T>C|||||||rs71325235||-1||||||||||||Ensembl||A|A||||chr22:g.27305647A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-8803T>C|||||||rs71325235||-1||||||||||||Ensembl||A|A||||chr22:g.27305647A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs71325235|2144|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27305647A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs71325235|2140|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27305647A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741;VEP_SYMBOL=.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28772;gnomADv4_1_AC_joint_XX=14649;gnomADv4_1_AC_joint_XY=14123;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.189071;gnomADv4_1_AF_joint_XX=0.188397;gnomADv4_1_AF_joint_XY=0.189774;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152176;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2833;gnomADv4_1_nhomalt_joint_XX=1429;gnomADv4_1_nhomalt_joint_XY=1404;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27306196 chr22_27306196_G_A G A 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=2.118;CADD_Rawscore=0.179118;CSQ=A|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs9620680|4455|1||HGNC|HGNC:53594|1||||||||Ensembl||G|G||||chr22:g.27306196G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs9620680|1052|-1||||4||||||||Ensembl||G|G||||chr22:g.27306196G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs9620680|1606|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27306196G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs9620680|1581|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27306196G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs9620680|1606|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27306196G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-9352C>T|||||||rs9620680||-1||||||||||||Ensembl||G|G||||chr22:g.27306196G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-9352C>T|||||||rs9620680||-1||||||||||||Ensembl||G|G||||chr22:g.27306196G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs9620680|1595|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27306196G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs9620680|1591|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27306196G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs9620680|4455|1||EntrezGene|HGNC:53594|||||||||RefSeq||G|G||||chr22:g.27306196G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28679;gnomADv4_1_AC_joint_XX=14612;gnomADv4_1_AC_joint_XY=14067;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.188432;gnomADv4_1_AF_joint_XX=0.187844;gnomADv4_1_AF_joint_XY=0.189047;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2804;gnomADv4_1_nhomalt_joint_XX=1417;gnomADv4_1_nhomalt_joint_XY=1387;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27306810 chr22_27306810_G_T G T 33 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.583;CADD_Rawscore=-0.154852;CSQ=T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs13056999|3841|1||HGNC|HGNC:53594|1||||||||Ensembl||G|G||||chr22:g.27306810G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs13056999|438|-1||||4||||||||Ensembl||G|G||||chr22:g.27306810G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs13056999|992|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27306810G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs13056999|967|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27306810G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs13056999|992|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27306810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-9966C>A|||||||rs13056999||-1||||||||||||Ensembl||G|G||||chr22:g.27306810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-9966C>A|||||||rs13056999||-1||||||||||||Ensembl||G|G||||chr22:g.27306810G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs13056999|981|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27306810G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs13056999|977|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27306810G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs13056999|3841|1||EntrezGene|HGNC:53594|||||||||RefSeq||G|G||||chr22:g.27306810G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28726;gnomADv4_1_AC_joint_XX=14631;gnomADv4_1_AC_joint_XY=14095;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.188781;gnomADv4_1_AF_joint_XX=0.188146;gnomADv4_1_AF_joint_XY=0.189444;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152166;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2819;gnomADv4_1_nhomalt_joint_XX=1424;gnomADv4_1_nhomalt_joint_XY=1395;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27306962 chr22_27306962_T_G T G 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=2.727;CADD_Rawscore=0.247559;CSQ=G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs13058409|3689|1||HGNC|HGNC:53594|1||||||||Ensembl||T|T||||chr22:g.27306962T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs13058409|286|-1||||4||||||||Ensembl||T|T||||chr22:g.27306962T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs13058409|840|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27306962T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs13058409|815|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27306962T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs13058409|840|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27306962T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-10118A>C|||||||rs13058409||-1||||||||||||Ensembl||T|T||||chr22:g.27306962T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-10118A>C|||||||rs13058409||-1||||||||||||Ensembl||T|T||||chr22:g.27306962T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs13058409|829|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27306962T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs13058409|825|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27306962T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs13058409|3689|1||EntrezGene|HGNC:53594|||||||||RefSeq||T|T||||chr22:g.27306962T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28769;gnomADv4_1_AC_joint_XX=14653;gnomADv4_1_AC_joint_XY=14116;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.189004;gnomADv4_1_AF_joint_XX=0.188356;gnomADv4_1_AF_joint_XY=0.18968;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2830;gnomADv4_1_nhomalt_joint_XX=1430;gnomADv4_1_nhomalt_joint_XY=1400;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27307467 chr22_27307467_C_G C G 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=2.488;CADD_Rawscore=0.222427;CSQ=G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs713757|3184|1||HGNC|HGNC:53594|1||||||||Ensembl||C|C||||chr22:g.27307467C>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA|3/3||ENST00000454387.2:n.594G>C||594|||||rs713757||-1||||4||||||||Ensembl||C|C||||chr22:g.27307467C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs713757|335|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27307467C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs713757|310|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27307467C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs713757|335|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27307467C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.387-10623G>C|||||||rs713757||-1||||||||||||Ensembl||C|C||||chr22:g.27307467C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.429-10623G>C|||||||rs713757||-1||||||||||||Ensembl||C|C||||chr22:g.27307467C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs713757|324|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27307467C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs713757|320|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27307467C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs713757|3184|1||EntrezGene|HGNC:53594|||||||||RefSeq||C|C||||chr22:g.27307467C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28738;gnomADv4_1_AC_joint_XX=14639;gnomADv4_1_AC_joint_XY=14099;gnomADv4_1_AF_grpmax_joint=0.25;gnomADv4_1_AF_joint=0.188961;gnomADv4_1_AF_joint_XX=0.188273;gnomADv4_1_AF_joint_XY=0.189681;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2823;gnomADv4_1_nhomalt_joint_XX=1423;gnomADv4_1_nhomalt_joint_XY=1400;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27307974 chr22_27307974_A_G A G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=12.14;CADD_Rawscore=1.19326;CSQ=G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs565148|2677|1||HGNC|HGNC:53594|1||||||||Ensembl||A|A||||chr22:g.27307974A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-409T>C|||||||rs565148||-1||||4||||||||Ensembl||A|A||||chr22:g.27307974A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA|1/4||ENST00000657960.2:n.173A>G||173|||||rs565148||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27307974A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA|1/2||ENST00000662296.1:n.198A>G||198|||||rs565148||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27307974A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA|1/3||ENST00000665304.1:n.173A>G||173|||||rs565148||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27307974A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+10179T>C|||||||rs565148||-1||||||||||||Ensembl||A|A||||chr22:g.27307974A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+10122T>C|||||||rs565148||-1||||||||||||Ensembl||A|A||||chr22:g.27307974A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA|1/2||ENST00000836529.1:n.184A>G||184|||||rs565148||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27307974A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA|1/2||ENST00000836530.1:n.188A>G||188|||||rs565148||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27307974A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs565148|2677|1||EntrezGene|HGNC:53594|||||||||RefSeq||A|A||||chr22:g.27307974A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91875;gnomADv4_1_AC_joint_XX=46975;gnomADv4_1_AC_joint_XY=44900;gnomADv4_1_AF_grpmax_joint=0.866038;gnomADv4_1_AF_joint=0.606012;gnomADv4_1_AF_joint_XX=0.605723;gnomADv4_1_AF_joint_XY=0.606314;gnomADv4_1_AN_grpmax_joint=41340;gnomADv4_1_AN_joint=151606;gnomADv4_1_AN_joint_XX=77552;gnomADv4_1_AN_joint_XY=74054;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=29969;gnomADv4_1_nhomalt_joint_XX=15320;gnomADv4_1_nhomalt_joint_XY=14649;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27307975 chr22_27307975_T_G T G 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=13.22;CADD_Rawscore=1.34606;CSQ=G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs565168|2676|1||HGNC|HGNC:53594|1||||||||Ensembl||T|T||||chr22:g.27307975T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-410A>C|||||||rs565168||-1||||4||||||||Ensembl||T|T||||chr22:g.27307975T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA|1/4||ENST00000657960.2:n.174T>G||174|||||rs565168||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27307975T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA|1/2||ENST00000662296.1:n.199T>G||199|||||rs565168||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27307975T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA|1/3||ENST00000665304.1:n.174T>G||174|||||rs565168||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27307975T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+10178A>C|||||||rs565168||-1||||||||||||Ensembl||T|T||||chr22:g.27307975T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+10121A>C|||||||rs565168||-1||||||||||||Ensembl||T|T||||chr22:g.27307975T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA|1/2||ENST00000836529.1:n.185T>G||185|||||rs565168||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27307975T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA|1/2||ENST00000836530.1:n.189T>G||189|||||rs565168||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27307975T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs565168|2676|1||EntrezGene|HGNC:53594|||||||||RefSeq||T|T||||chr22:g.27307975T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91877;gnomADv4_1_AC_joint_XX=46979;gnomADv4_1_AC_joint_XY=44898;gnomADv4_1_AF_grpmax_joint=0.866181;gnomADv4_1_AF_joint=0.606081;gnomADv4_1_AF_joint_XX=0.60579;gnomADv4_1_AF_joint_XY=0.606386;gnomADv4_1_AN_grpmax_joint=41332;gnomADv4_1_AN_joint=151592;gnomADv4_1_AN_joint_XX=77550;gnomADv4_1_AN_joint_XY=74042;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=29971;gnomADv4_1_nhomalt_joint_XX=15323;gnomADv4_1_nhomalt_joint_XY=14648;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27308542 chr22_27308542_T_C T C 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=3.569;CADD_Rawscore=0.326932;CSQ=C|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs713818|2109|1||HGNC|HGNC:53594|1||||||||Ensembl||T|T||||chr22:g.27308542T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-977A>G|||||||rs713818||-1||||4||||||||Ensembl||T|T||||chr22:g.27308542T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.234+507T>C|||||||rs713818||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27308542T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||1/1|ENST00000662296.1:n.259+507T>C|||||||rs713818||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27308542T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.234+507T>C|||||||rs713818||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27308542T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+9611A>G|||||||rs713818||-1||||||||||||Ensembl||T|T||||chr22:g.27308542T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+9554A>G|||||||rs713818||-1||||||||||||Ensembl||T|T||||chr22:g.27308542T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||1/1|ENST00000836529.1:n.245+507T>C|||||||rs713818||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27308542T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||1/1|ENST00000836530.1:n.249+507T>C|||||||rs713818||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27308542T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs713818|2109|1||EntrezGene|HGNC:53594|||||||||RefSeq||T|T||||chr22:g.27308542T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32186;gnomADv4_1_AC_joint_XX=16447;gnomADv4_1_AC_joint_XY=15739;gnomADv4_1_AF_grpmax_joint=0.282573;gnomADv4_1_AF_joint=0.211569;gnomADv4_1_AF_joint_XX=0.211521;gnomADv4_1_AF_joint_XY=0.21162;gnomADv4_1_AN_grpmax_joint=41476;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3660;gnomADv4_1_nhomalt_joint_XX=1856;gnomADv4_1_nhomalt_joint_XY=1804;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27308739 chr22_27308739_A_C A C 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.193;CADD_Rawscore=-0.436797;CSQ=C|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs57851794|1912|1||HGNC|HGNC:53594|1||||||||Ensembl||A|A||||chr22:g.27308739A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-1174T>G|||||||rs57851794||-1||||4||||||||Ensembl||A|A||||chr22:g.27308739A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.234+704A>C|||||||rs57851794||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27308739A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||1/1|ENST00000662296.1:n.259+704A>C|||||||rs57851794||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27308739A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.234+704A>C|||||||rs57851794||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27308739A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+9414T>G|||||||rs57851794||-1||||||||||||Ensembl||A|A||||chr22:g.27308739A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+9357T>G|||||||rs57851794||-1||||||||||||Ensembl||A|A||||chr22:g.27308739A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||1/1|ENST00000836529.1:n.245+704A>C|||||||rs57851794||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27308739A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||1/1|ENST00000836530.1:n.250-340A>C|||||||rs57851794||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27308739A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs57851794|1912|1||EntrezGene|HGNC:53594|||||||||RefSeq||A|A||||chr22:g.27308739A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32184;gnomADv4_1_AC_joint_XX=16446;gnomADv4_1_AC_joint_XY=15738;gnomADv4_1_AF_grpmax_joint=0.282398;gnomADv4_1_AF_joint=0.211587;gnomADv4_1_AF_joint_XX=0.211573;gnomADv4_1_AF_joint_XY=0.211601;gnomADv4_1_AN_grpmax_joint=41484;gnomADv4_1_AN_joint=152108;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3658;gnomADv4_1_nhomalt_joint_XX=1855;gnomADv4_1_nhomalt_joint_XY=1803;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27309630 chr22_27309630_A_AACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT;chr22_27309630_A_AACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT A AACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=31;CADDIndel_PHREDscore=0.32;CADDIndel_Rawscore=-0.305251;CSQ=ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA|||||||||||1020|1||HGNC|HGNC:53594|1||||||||Ensembl|||||||chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-2066_496-2065insATATATATTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGT|||||||||-1||||4||||||||Ensembl|||||||chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.234+1596_234+1597insCAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||1||HGNC|HGNC:53594|||||||||Ensembl||||||1|chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||1/1|ENST00000662296.1:n.260-1214_260-1213insCAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||1||HGNC|HGNC:53594|||||||||Ensembl||||||1|chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.234+1596_234+1597insCAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||1||HGNC|HGNC:53594|||||||||Ensembl||||||1|chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+8522_386+8523insATATATATTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGT|||||||||-1||||||||||||Ensembl|||||||chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+8465_428+8466insATATATATTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGT|||||||||-1||||||||||||Ensembl|||||||chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||1/1|ENST00000836529.1:n.245+1596_245+1597insCAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||1||HGNC|HGNC:53594|||||||||Ensembl||||||1|chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA|2/2||||801-802|||||||1||HGNC|HGNC:53594|||||||||Ensembl|||||||chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA|||||||||||1020|1||EntrezGene|HGNC:53594|||||||||RefSeq|||||||chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||;TYPE=INDEL;VEP_Allele=ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2704;gnomADv4_1_AC_joint_XX=1412;gnomADv4_1_AC_joint_XY=1292;gnomADv4_1_AF_grpmax_joint=0.0320073;gnomADv4_1_AF_joint=0.0185183;gnomADv4_1_AF_joint_XX=0.01888;gnomADv4_1_AF_joint_XY=0.0181384;gnomADv4_1_AN_grpmax_joint=39366;gnomADv4_1_AN_joint=146018;gnomADv4_1_AN_joint_XX=74788;gnomADv4_1_AN_joint_XY=71230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=42;gnomADv4_1_nhomalt_joint_XX=22;gnomADv4_1_nhomalt_joint_XY=20;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27309630 chr22_27309630_A_AACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT;chr22_27309630_A_AACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT A AACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=31;CADDIndel_PHREDscore=0.291;CADDIndel_Rawscore=-0.329666;CSQ=ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA|||||||||||1020|1||HGNC|HGNC:53594|1||||||||Ensembl|||||||chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-2066_496-2065insATATATATTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGT|||||||||-1||||4||||||||Ensembl|||||||chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.234+1596_234+1597insCAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||1||HGNC|HGNC:53594|||||||||Ensembl||||||1|chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||1/1|ENST00000662296.1:n.260-1214_260-1213insCAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||1||HGNC|HGNC:53594|||||||||Ensembl||||||1|chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.234+1596_234+1597insCAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||1||HGNC|HGNC:53594|||||||||Ensembl||||||1|chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+8522_386+8523insATATATATTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGT|||||||||-1||||||||||||Ensembl|||||||chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+8465_428+8466insATATATATTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGT|||||||||-1||||||||||||Ensembl|||||||chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||1/1|ENST00000836529.1:n.245+1596_245+1597insCAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||1||HGNC|HGNC:53594|||||||||Ensembl||||||1|chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA|2/2||||801-802|||||||1||HGNC|HGNC:53594|||||||||Ensembl|||||||chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA|||||||||||1020|1||EntrezGene|HGNC:53594|||||||||RefSeq|||||||chr22:g.27309631_27309632insCAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATATA|||||||||||||;TYPE=INDEL;VEP_Allele=ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT,ACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAATATATAT;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4851;gnomADv4_1_AC_joint_XX=2395;gnomADv4_1_AC_joint_XY=2456;gnomADv4_1_AF_grpmax_joint=0.0863309;gnomADv4_1_AF_joint=0.0332794;gnomADv4_1_AF_joint_XX=0.0320667;gnomADv4_1_AF_joint_XY=0.0345536;gnomADv4_1_AN_grpmax_joint=278;gnomADv4_1_AN_joint=145766;gnomADv4_1_AN_joint_XX=74688;gnomADv4_1_AN_joint_XY=71078;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=149;gnomADv4_1_nhomalt_joint_XX=67;gnomADv4_1_nhomalt_joint_XY=82;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27309726 chr22_27309726_A_C A C 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.85;CADD_Rawscore=-0.059649;CSQ=C|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs55826249|925|1||HGNC|HGNC:53594|1||||||||Ensembl||A|A||||chr22:g.27309726A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-2161T>G|||||||rs55826249||-1||||4||||||||Ensembl||A|A||||chr22:g.27309726A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.234+1691A>C|||||||rs55826249||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27309726A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||1/1|ENST00000662296.1:n.260-1119A>C|||||||rs55826249||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27309726A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.234+1691A>C|||||||rs55826249||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27309726A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+8427T>G|||||||rs55826249||-1||||||||||||Ensembl||A|A||||chr22:g.27309726A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+8370T>G|||||||rs55826249||-1||||||||||||Ensembl||A|A||||chr22:g.27309726A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||1/1|ENST00000836529.1:n.245+1691A>C|||||||rs55826249||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27309726A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs55826249|95|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27309726A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs55826249|925|1||EntrezGene|HGNC:53594|||||||||RefSeq||A|A||||chr22:g.27309726A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22413;gnomADv4_1_AC_joint_XX=11055;gnomADv4_1_AC_joint_XY=11358;gnomADv4_1_AF_grpmax_joint=0.226832;gnomADv4_1_AF_joint=0.148375;gnomADv4_1_AF_joint_XX=0.143192;gnomADv4_1_AF_joint_XY=0.153794;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=151056;gnomADv4_1_AN_joint_XX=77204;gnomADv4_1_AN_joint_XY=73852;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1766;gnomADv4_1_nhomalt_joint_XX=825;gnomADv4_1_nhomalt_joint_XY=941;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27309738 chr22_27309738_G_A G A 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.265;CADD_Rawscore=-0.353969;CSQ=A|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs55759797|913|1||HGNC|HGNC:53594|1||||||||Ensembl||G|G||||chr22:g.27309738G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-2173C>T|||||||rs55759797||-1||||4||||||||Ensembl||G|G||||chr22:g.27309738G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.234+1703G>A|||||||rs55759797||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309738G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||1/1|ENST00000662296.1:n.260-1107G>A|||||||rs55759797||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309738G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.234+1703G>A|||||||rs55759797||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309738G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+8415C>T|||||||rs55759797||-1||||||||||||Ensembl||G|G||||chr22:g.27309738G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+8358C>T|||||||rs55759797||-1||||||||||||Ensembl||G|G||||chr22:g.27309738G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||1/1|ENST00000836529.1:n.245+1703G>A|||||||rs55759797||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309738G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs55759797|107|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309738G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs55759797|913|1||EntrezGene|HGNC:53594|||||||||RefSeq||G|G||||chr22:g.27309738G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22406;gnomADv4_1_AC_joint_XX=11058;gnomADv4_1_AC_joint_XY=11348;gnomADv4_1_AF_grpmax_joint=0.22729;gnomADv4_1_AF_joint=0.147377;gnomADv4_1_AF_joint_XX=0.142232;gnomADv4_1_AF_joint_XY=0.152761;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1767;gnomADv4_1_nhomalt_joint_XX=825;gnomADv4_1_nhomalt_joint_XY=942;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27309815 chr22_27309815_G_C G C 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.817;CADD_Rawscore=-0.069612;CSQ=C|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs513674|836|1||HGNC|HGNC:53594|1||||||||Ensembl||G|G||||chr22:g.27309815G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-2250C>G|||||||rs513674||-1||||4||||||||Ensembl||G|G||||chr22:g.27309815G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.234+1780G>C|||||||rs513674||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309815G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||1/1|ENST00000662296.1:n.260-1030G>C|||||||rs513674||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309815G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.234+1780G>C|||||||rs513674||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309815G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+8338C>G|||||||rs513674||-1||||||||||||Ensembl||G|G||||chr22:g.27309815G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+8281C>G|||||||rs513674||-1||||||||||||Ensembl||G|G||||chr22:g.27309815G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||1/1|ENST00000836529.1:n.246-1653G>C|||||||rs513674||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309815G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs513674|184|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309815G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs513674|836|1||EntrezGene|HGNC:53594|||||||||RefSeq||G|G||||chr22:g.27309815G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33324;gnomADv4_1_AC_joint_XX=16513;gnomADv4_1_AC_joint_XY=16811;gnomADv4_1_AF_grpmax_joint=0.54165;gnomADv4_1_AF_joint=0.219352;gnomADv4_1_AF_joint_XX=0.212627;gnomADv4_1_AF_joint_XY=0.226386;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4547;gnomADv4_1_nhomalt_joint_XX=2185;gnomADv4_1_nhomalt_joint_XY=2362;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27309961 chr22_27309961_G_A G A 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=4.929;CADD_Rawscore=0.44925;CSQ=A|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs8135463|690|1||HGNC|HGNC:53594|1||||||||Ensembl||G|G||||chr22:g.27309961G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-2396C>T|||||||rs8135463||-1||||4||||||||Ensembl||G|G||||chr22:g.27309961G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.234+1926G>A|||||||rs8135463||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309961G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||1/1|ENST00000662296.1:n.260-884G>A|||||||rs8135463||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309961G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.234+1926G>A|||||||rs8135463||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309961G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+8192C>T|||||||rs8135463||-1||||||||||||Ensembl||G|G||||chr22:g.27309961G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+8135C>T|||||||rs8135463||-1||||||||||||Ensembl||G|G||||chr22:g.27309961G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||1/1|ENST00000836529.1:n.246-1507G>A|||||||rs8135463||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309961G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs8135463|330|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309961G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs8135463|690|1||EntrezGene|HGNC:53594|||||||||RefSeq||G|G||||chr22:g.27309961G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19865;gnomADv4_1_AC_joint_XX=9691;gnomADv4_1_AC_joint_XY=10174;gnomADv4_1_AF_grpmax_joint=0.226228;gnomADv4_1_AF_joint=0.130615;gnomADv4_1_AF_joint_XX=0.124672;gnomADv4_1_AF_joint_XY=0.136828;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1390;gnomADv4_1_nhomalt_joint_XX=636;gnomADv4_1_nhomalt_joint_XY=754;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27309979 chr22_27309979_G_A G A 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=5.737;CADD_Rawscore=0.526814;CSQ=A|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs8135561|672|1||HGNC|HGNC:53594|1||||||||Ensembl||G|G||||chr22:g.27309979G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-2414C>T|||||||rs8135561||-1||||4||||||||Ensembl||G|G||||chr22:g.27309979G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.234+1944G>A|||||||rs8135561||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309979G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||1/1|ENST00000662296.1:n.260-866G>A|||||||rs8135561||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309979G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.234+1944G>A|||||||rs8135561||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309979G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+8174C>T|||||||rs8135561||-1||||||||||||Ensembl||G|G||||chr22:g.27309979G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+8117C>T|||||||rs8135561||-1||||||||||||Ensembl||G|G||||chr22:g.27309979G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||1/1|ENST00000836529.1:n.246-1489G>A|||||||rs8135561||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309979G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs8135561|348|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27309979G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs8135561|672|1||EntrezGene|HGNC:53594|||||||||RefSeq||G|G||||chr22:g.27309979G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22374;gnomADv4_1_AC_joint_XX=11037;gnomADv4_1_AC_joint_XY=11337;gnomADv4_1_AF_grpmax_joint=0.226246;gnomADv4_1_AF_joint=0.147124;gnomADv4_1_AF_joint_XX=0.141966;gnomADv4_1_AF_joint_XY=0.152518;gnomADv4_1_AN_grpmax_joint=5136;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1748;gnomADv4_1_nhomalt_joint_XX=814;gnomADv4_1_nhomalt_joint_XY=934;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27310044 chr22_27310044_T_C T C 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.694;CADD_Rawscore=-0.11123;CSQ=C|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs516155|607|1||HGNC|HGNC:53594|1||||||||Ensembl||T|T||||chr22:g.27310044T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-2479A>G|||||||rs516155||-1||||4||||||||Ensembl||T|T||||chr22:g.27310044T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.234+2009T>C|||||||rs516155||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27310044T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||1/1|ENST00000662296.1:n.260-801T>C|||||||rs516155||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27310044T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.234+2009T>C|||||||rs516155||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27310044T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+8109A>G|||||||rs516155||-1||||||||||||Ensembl||T|T||||chr22:g.27310044T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+8052A>G|||||||rs516155||-1||||||||||||Ensembl||T|T||||chr22:g.27310044T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||1/1|ENST00000836529.1:n.246-1424T>C|||||||rs516155||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27310044T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs516155|413|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27310044T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs516155|607|1||EntrezGene|HGNC:53594|||||||||RefSeq||T|T||||chr22:g.27310044T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40270;gnomADv4_1_AC_joint_XX=20427;gnomADv4_1_AC_joint_XY=19843;gnomADv4_1_AF_grpmax_joint=0.406703;gnomADv4_1_AF_joint=0.265217;gnomADv4_1_AF_joint_XX=0.263072;gnomADv4_1_AF_joint_XY=0.267462;gnomADv4_1_AN_grpmax_joint=5102;gnomADv4_1_AN_joint=151838;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74190;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5868;gnomADv4_1_nhomalt_joint_XX=2975;gnomADv4_1_nhomalt_joint_XY=2893;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27310442 chr22_27310442_T_A T A 35 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.688;CADD_Rawscore=-0.113173;CSQ=A|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs8141118|209|1||HGNC|HGNC:53594|1||||||||Ensembl||T|T||||chr22:g.27310442T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-2877A>T|||||||rs8141118||-1||||4||||||||Ensembl||T|T||||chr22:g.27310442T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.234+2407T>A|||||||rs8141118||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27310442T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||1/1|ENST00000662296.1:n.260-403T>A|||||||rs8141118||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27310442T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.234+2407T>A|||||||rs8141118||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27310442T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+7711A>T|||||||rs8141118||-1||||||||||||Ensembl||T|T||||chr22:g.27310442T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+7654A>T|||||||rs8141118||-1||||||||||||Ensembl||T|T||||chr22:g.27310442T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||1/1|ENST00000836529.1:n.246-1026T>A|||||||rs8141118||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27310442T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs8141118|811|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27310442T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs8141118|209|1||EntrezGene|HGNC:53594|||||||||RefSeq||T|T||||chr22:g.27310442T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30335;gnomADv4_1_AC_joint_XX=15573;gnomADv4_1_AC_joint_XY=14762;gnomADv4_1_AF_grpmax_joint=0.372637;gnomADv4_1_AF_joint=0.232356;gnomADv4_1_AF_joint_XX=0.227303;gnomADv4_1_AF_joint_XY=0.237936;gnomADv4_1_AN_grpmax_joint=34602;gnomADv4_1_AN_joint=130554;gnomADv4_1_AN_joint_XX=68512;gnomADv4_1_AN_joint_XY=62042;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3824;gnomADv4_1_nhomalt_joint_XX=1944;gnomADv4_1_nhomalt_joint_XY=1880;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27310467 chr22_27310467_GGGAA_G GGGAA G 35 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.638;CADDIndel_Rawscore=-0.132015;CSQ=-|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs10553128|180|1||HGNC|HGNC:53594|1||||||||Ensembl||GGAA|GGAA||||chr22:g.27310485_27310488del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-2906_496-2903del|||||||rs10553128||-1||||4||||||||Ensembl||GGAA|GGAA||||chr22:g.27310485_27310488del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.234+2450_234+2453del|||||||rs10553128||1||HGNC|HGNC:53594|||||||||Ensembl||GGAA|GGAA|||17|chr22:g.27310485_27310488del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||1/1|ENST00000662296.1:n.260-360_260-357del|||||||rs10553128||1||HGNC|HGNC:53594|||||||||Ensembl||GGAA|GGAA|||17|chr22:g.27310485_27310488del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.234+2450_234+2453del|||||||rs10553128||1||HGNC|HGNC:53594|||||||||Ensembl||GGAA|GGAA|||17|chr22:g.27310485_27310488del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+7682_386+7685del|||||||rs10553128||-1||||||||||||Ensembl||GGAA|GGAA||||chr22:g.27310485_27310488del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+7625_428+7628del|||||||rs10553128||-1||||||||||||Ensembl||GGAA|GGAA||||chr22:g.27310485_27310488del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||1/1|ENST00000836529.1:n.246-983_246-980del|||||||rs10553128||1||HGNC|HGNC:53594|||||||||Ensembl||GGAA|GGAA|||17|chr22:g.27310485_27310488del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs10553128|837|1||HGNC|HGNC:53594|||||||||Ensembl||GGAA|GGAA||||chr22:g.27310485_27310488del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs10553128|180|1||EntrezGene|HGNC:53594|||||||||RefSeq||GGAA|GGAA||||chr22:g.27310485_27310488del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18979;gnomADv4_1_AC_joint_XX=9692;gnomADv4_1_AC_joint_XY=9287;gnomADv4_1_AF_grpmax_joint=0.214286;gnomADv4_1_AF_joint=0.135269;gnomADv4_1_AF_joint_XX=0.133355;gnomADv4_1_AF_joint_XY=0.137325;gnomADv4_1_AN_grpmax_joint=4396;gnomADv4_1_AN_joint=140306;gnomADv4_1_AN_joint_XX=72678;gnomADv4_1_AN_joint_XY=67628;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1525;gnomADv4_1_nhomalt_joint_XX=748;gnomADv4_1_nhomalt_joint_XY=777;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27310534 chr22_27310534_G_GA G GA 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=35;CADDIndel_PHREDscore=0.288;CADDIndel_Rawscore=-0.332469;CSQ=A|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs35605295|116|1||HGNC|HGNC:53594|1||||||||Ensembl|||||||chr22:g.27310534_27310535insA|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-2970_496-2969insT|||||||rs35605295||-1||||4||||||||Ensembl|||||||chr22:g.27310534_27310535insA|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.234+2499_234+2500insA|||||||rs35605295||1||HGNC|HGNC:53594|||||||||Ensembl|||||||chr22:g.27310534_27310535insA|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||1/1|ENST00000662296.1:n.260-311_260-310insA|||||||rs35605295||1||HGNC|HGNC:53594|||||||||Ensembl|||||||chr22:g.27310534_27310535insA|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.234+2499_234+2500insA|||||||rs35605295||1||HGNC|HGNC:53594|||||||||Ensembl|||||||chr22:g.27310534_27310535insA|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+7618_386+7619insT|||||||rs35605295||-1||||||||||||Ensembl|||||||chr22:g.27310534_27310535insA|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+7561_428+7562insT|||||||rs35605295||-1||||||||||||Ensembl|||||||chr22:g.27310534_27310535insA|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||1/1|ENST00000836529.1:n.246-934_246-933insA|||||||rs35605295||1||HGNC|HGNC:53594|||||||||Ensembl|||||||chr22:g.27310534_27310535insA|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs35605295|903|1||HGNC|HGNC:53594|||||||||Ensembl|||||||chr22:g.27310534_27310535insA|||||||||||||,A|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs35605295|116|1||EntrezGene|HGNC:53594|||||||||RefSeq|||||||chr22:g.27310534_27310535insA|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43725;gnomADv4_1_AC_joint_XX=22749;gnomADv4_1_AC_joint_XY=20976;gnomADv4_1_AF_grpmax_joint=0.462315;gnomADv4_1_AF_joint=0.321536;gnomADv4_1_AF_joint_XX=0.322553;gnomADv4_1_AF_joint_XY=0.32044;gnomADv4_1_AN_grpmax_joint=34656;gnomADv4_1_AN_joint=135988;gnomADv4_1_AN_joint_XX=70528;gnomADv4_1_AN_joint_XY=65460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8058;gnomADv4_1_nhomalt_joint_XX=4172;gnomADv4_1_nhomalt_joint_XY=3886;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27310560 chr22_27310560_A_G A G 26 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=26;CADD_PHREDscore=0.639;CADD_Rawscore=-0.131658;CSQ=G|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs112328428|91|1||HGNC|HGNC:53594|1||||||||Ensembl||A|A||||chr22:g.27310560A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-2995T>C|||||||rs112328428||-1||||4||||||||Ensembl||A|A||||chr22:g.27310560A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.234+2525A>G|||||||rs112328428||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27310560A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||1/1|ENST00000662296.1:n.260-285A>G|||||||rs112328428||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27310560A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.234+2525A>G|||||||rs112328428||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27310560A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+7593T>C|||||||rs112328428||-1||||||||||||Ensembl||A|A||||chr22:g.27310560A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+7536T>C|||||||rs112328428||-1||||||||||||Ensembl||A|A||||chr22:g.27310560A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||1/1|ENST00000836529.1:n.246-908A>G|||||||rs112328428||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27310560A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs112328428|929|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27310560A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs112328428|91|1||EntrezGene|HGNC:53594|||||||||RefSeq||A|A||||chr22:g.27310560A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14082;gnomADv4_1_AC_joint_XX=7342;gnomADv4_1_AC_joint_XY=6740;gnomADv4_1_AF_grpmax_joint=0.185909;gnomADv4_1_AF_joint=0.124325;gnomADv4_1_AF_joint_XX=0.123109;gnomADv4_1_AF_joint_XY=0.125676;gnomADv4_1_AN_grpmax_joint=3378;gnomADv4_1_AN_joint=113268;gnomADv4_1_AN_joint_XX=59638;gnomADv4_1_AN_joint_XY=53630;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=999;gnomADv4_1_nhomalt_joint_XX=515;gnomADv4_1_nhomalt_joint_XY=484;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27310578 chr22_27310578_AGGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG_A AGGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG A 24 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=24;CADDIndel_PHREDscore=1.091;CADDIndel_Rawscore=0.004804;CSQ=-|upstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs66882177|35|1||HGNC|HGNC:53594|1||||||||Ensembl||GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG|GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG||||chr22:g.27310610_27310647del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-3051_496-3014del|||||||rs66882177||-1||||4||||||||Ensembl||GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG|GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG||||chr22:g.27310610_27310647del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.234+2575_234+2612del|||||||rs66882177||1||HGNC|HGNC:53594|||||||||Ensembl||GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG|GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG|||31|chr22:g.27310610_27310647del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||1/1|ENST00000662296.1:n.260-235_260-198del|||||||rs66882177||1||HGNC|HGNC:53594|||||||||Ensembl||GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG|GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG|||31|chr22:g.27310610_27310647del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.234+2575_234+2612del|||||||rs66882177||1||HGNC|HGNC:53594|||||||||Ensembl||GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG|GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG|||31|chr22:g.27310610_27310647del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+7537_386+7574del|||||||rs66882177||-1||||||||||||Ensembl||GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG|GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG||||chr22:g.27310610_27310647del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+7480_428+7517del|||||||rs66882177||-1||||||||||||Ensembl||GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG|GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG||||chr22:g.27310610_27310647del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||1/1|ENST00000836529.1:n.246-858_246-821del|||||||rs66882177||1||HGNC|HGNC:53594|||||||||Ensembl||GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG|GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG|||31|chr22:g.27310610_27310647del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs66882177|948|1||HGNC|HGNC:53594|||||||||Ensembl||GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG|GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG||||chr22:g.27310610_27310647del|||||||||||||,-|upstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs66882177|35|1||EntrezGene|HGNC:53594|||||||||RefSeq||GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG|GGGAGGGAGGGAAGGAGGGGGGAGGGAGGGAAGGAGGG||||chr22:g.27310610_27310647del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23286;gnomADv4_1_AC_joint_XX=12449;gnomADv4_1_AC_joint_XY=10837;gnomADv4_1_AF_grpmax_joint=0.458682;gnomADv4_1_AF_joint=0.303322;gnomADv4_1_AF_joint_XX=0.299658;gnomADv4_1_AF_joint_XY=0.307642;gnomADv4_1_AN_grpmax_joint=14812;gnomADv4_1_AN_joint=76770;gnomADv4_1_AN_joint_XX=41544;gnomADv4_1_AN_joint_XY=35226;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3607;gnomADv4_1_nhomalt_joint_XX=1913;gnomADv4_1_nhomalt_joint_XY=1694;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27311704 chr22_27311704_G_A G A 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.039;CADD_Rawscore=-0.865839;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA|1/2||ENST00000426467.1:n.1054G>A||1054|||||rs9613418||1||HGNC|HGNC:53594|1||||||||Ensembl||G|G||||chr22:g.27311704G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-4139C>T|||||||rs9613418||-1||||4||||||||Ensembl||G|G||||chr22:g.27311704G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.235-3057G>A|||||||rs9613418||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27311704G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA|2/2||ENST00000662296.1:n.1119G>A||1119|||||rs9613418||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27311704G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.235-3057G>A|||||||rs9613418||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27311704G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+6449C>T|||||||rs9613418||-1||||||||||||Ensembl||G|G||||chr22:g.27311704G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+6392C>T|||||||rs9613418||-1||||||||||||Ensembl||G|G||||chr22:g.27311704G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs9613418|13|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27311704G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs9613418|2073|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27311704G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA|1/2||NR_134581.1:n.1054G>A||1054|||||rs9613418||1||EntrezGene|HGNC:53594|||||||||RefSeq||G|G||||chr22:g.27311704G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7FCC|enhancer||||||||||rs9613418|||||||||||||||||||||chr22:g.27311704G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1,ENSR22_B7FCC;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657,.;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24377;gnomADv4_1_AC_joint_XX=12048;gnomADv4_1_AC_joint_XY=12329;gnomADv4_1_AF_grpmax_joint=0.219064;gnomADv4_1_AF_joint=0.159169;gnomADv4_1_AF_joint_XX=0.153944;gnomADv4_1_AF_joint_XY=0.164628;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=153152;gnomADv4_1_AN_joint_XX=78262;gnomADv4_1_AN_joint_XY=74890;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2077;gnomADv4_1_nhomalt_joint_XX=982;gnomADv4_1_nhomalt_joint_XY=1095;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27312352 chr22_27312352_A_C A C 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.242;CADD_Rawscore=-0.376854;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA|1/2||ENST00000426467.1:n.1702A>C||1702|||||rs13058071||1||HGNC|HGNC:53594|1||||||||Ensembl||A|A||||chr22:g.27312352A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.496-4787T>G|||||||rs13058071||-1||||4||||||||Ensembl||A|A||||chr22:g.27312352A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.235-2409A>C|||||||rs13058071||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27312352A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs13058071|337|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27312352A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.235-2409A>C|||||||rs13058071||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27312352A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+5801T>G|||||||rs13058071||-1||||||||||||Ensembl||A|A||||chr22:g.27312352A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+5744T>G|||||||rs13058071||-1||||||||||||Ensembl||A|A||||chr22:g.27312352A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs13058071|661|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27312352A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs13058071|2721|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27312352A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA|1/2||NR_134581.1:n.1702A>C||1702|||||rs13058071||1||EntrezGene|HGNC:53594|||||||||RefSeq||A|A||||chr22:g.27312352A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10048;gnomADv4_1_AC_joint_XX=5259;gnomADv4_1_AC_joint_XY=4789;gnomADv4_1_AF_grpmax_joint=0.113636;gnomADv4_1_AF_joint=0.0659543;gnomADv4_1_AF_joint_XX=0.0675408;gnomADv4_1_AF_joint_XY=0.0642957;gnomADv4_1_AN_grpmax_joint=308;gnomADv4_1_AN_joint=152348;gnomADv4_1_AN_joint_XX=77864;gnomADv4_1_AN_joint_XY=74484;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=379;gnomADv4_1_nhomalt_joint_XX=199;gnomADv4_1_nhomalt_joint_XY=180;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27312682 chr22_27312682_A_T A T 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.849;CADD_Rawscore=-0.059932;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA|1/2||ENST00000426467.1:n.2032A>T||2032|||||rs8142278||1||HGNC|HGNC:53594|1||||||||Ensembl||A|A||||chr22:g.27312682A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+4837T>A|||||||rs8142278||-1||||4||||||||Ensembl||A|A||||chr22:g.27312682A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.235-2079A>T|||||||rs8142278||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27312682A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs8142278|667|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27312682A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.235-2079A>T|||||||rs8142278||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27312682A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+5471T>A|||||||rs8142278||-1||||||||||||Ensembl||A|A||||chr22:g.27312682A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+5414T>A|||||||rs8142278||-1||||||||||||Ensembl||A|A||||chr22:g.27312682A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs8142278|991|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27312682A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs8142278|3051|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27312682A>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA|1/2||NR_134581.1:n.2032A>T||2032|||||rs8142278||1||EntrezGene|HGNC:53594|||||||||RefSeq||A|A||||chr22:g.27312682A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29764;gnomADv4_1_AC_joint_XX=15229;gnomADv4_1_AC_joint_XY=14535;gnomADv4_1_AF_grpmax_joint=0.231293;gnomADv4_1_AF_joint=0.195258;gnomADv4_1_AF_joint_XX=0.195499;gnomADv4_1_AF_joint_XY=0.195006;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152434;gnomADv4_1_AN_joint_XX=77898;gnomADv4_1_AN_joint_XY=74536;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2973;gnomADv4_1_nhomalt_joint_XX=1531;gnomADv4_1_nhomalt_joint_XY=1442;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27312891 chr22_27312891_G_A G A 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.526;CADD_Rawscore=0.092571;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA|1/2||ENST00000426467.1:n.2241G>A||2241|||||rs528686||1||HGNC|HGNC:53594|1||||||||Ensembl||G|G||||chr22:g.27312891G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+4628C>T|||||||rs528686||-1||||4||||||||Ensembl||G|G||||chr22:g.27312891G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.235-1870G>A|||||||rs528686||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27312891G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs528686|876|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27312891G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.235-1870G>A|||||||rs528686||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27312891G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+5262C>T|||||||rs528686||-1||||||||||||Ensembl||G|G||||chr22:g.27312891G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+5205C>T|||||||rs528686||-1||||||||||||Ensembl||G|G||||chr22:g.27312891G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs528686|1200|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27312891G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs528686|3260|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27312891G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA|1/2||NR_134581.1:n.2241G>A||2241|||||rs528686||1||EntrezGene|HGNC:53594|||||||||RefSeq||G|G||||chr22:g.27312891G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55649;gnomADv4_1_AC_joint_XX=28242;gnomADv4_1_AC_joint_XY=27407;gnomADv4_1_AF_grpmax_joint=0.650765;gnomADv4_1_AF_joint=0.365338;gnomADv4_1_AF_joint_XX=0.362812;gnomADv4_1_AF_joint_XY=0.367978;gnomADv4_1_AN_grpmax_joint=41462;gnomADv4_1_AN_joint=152322;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74480;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=12874;gnomADv4_1_nhomalt_joint_XX=6561;gnomADv4_1_nhomalt_joint_XY=6313;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27313122 chr22_27313122_CG_C CG C 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.063;CADDIndel_Rawscore=-0.737003;CSQ=-|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA|1/2||ENST00000426467.1:n.2475del||2473|||||rs11368075||1||HGNC|HGNC:53594|1||||||||Ensembl||G|G|||2|chr22:g.27313125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+4396del|||||||rs11368075||-1||||4||||||||Ensembl||G|G||||chr22:g.27313125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.235-1636del|||||||rs11368075||1||HGNC|HGNC:53594|||||||||Ensembl||G|G|||2|chr22:g.27313125del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs11368075|1108|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27313125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.235-1636del|||||||rs11368075||1||HGNC|HGNC:53594|||||||||Ensembl||G|G|||2|chr22:g.27313125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+5030del|||||||rs11368075||-1||||||||||||Ensembl||G|G||||chr22:g.27313125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+4973del|||||||rs11368075||-1||||||||||||Ensembl||G|G||||chr22:g.27313125del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs11368075|1432|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27313125del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs11368075|3492|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27313125del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA|1/2||NR_134581.1:n.2475del||2473|||||rs11368075||1||EntrezGene|HGNC:53594|||||||||RefSeq||G|G|||2|chr22:g.27313125del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DSP5|enhancer||||||||||rs11368075|||||||||||||||||||||chr22:g.27313125del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1,ENSR22_9DSP5;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657,.;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22982;gnomADv4_1_AC_joint_XX=11311;gnomADv4_1_AC_joint_XY=11671;gnomADv4_1_AF_grpmax_joint=0.235695;gnomADv4_1_AF_joint=0.150355;gnomADv4_1_AF_joint_XX=0.144957;gnomADv4_1_AF_joint_XY=0.155984;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=152852;gnomADv4_1_AN_joint_XX=78030;gnomADv4_1_AN_joint_XY=74822;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1851;gnomADv4_1_nhomalt_joint_XX=855;gnomADv4_1_nhomalt_joint_XY=996;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27313599 chr22_27313599_G_A G A 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=15.46;CADD_Rawscore=1.73195;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA|1/2||ENST00000426467.1:n.2949G>A||2949|||||rs5997220||1||HGNC|HGNC:53594|1||||||||Ensembl||G|G||||chr22:g.27313599G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+3920C>T|||||||rs5997220||-1||||4||||||||Ensembl||G|G||||chr22:g.27313599G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.235-1162G>A|||||||rs5997220||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27313599G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs5997220|1584|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27313599G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.235-1162G>A|||||||rs5997220||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27313599G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+4554C>T|||||||rs5997220||-1||||||||||||Ensembl||G|G||||chr22:g.27313599G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+4497C>T|||||||rs5997220||-1||||||||||||Ensembl||G|G||||chr22:g.27313599G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs5997220|1908|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27313599G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs5997220|3968|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27313599G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA|1/2||NR_134581.1:n.2949G>A||2949|||||rs5997220||1||EntrezGene|HGNC:53594|||||||||RefSeq||G|G||||chr22:g.27313599G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25553;gnomADv4_1_AC_joint_XX=12719;gnomADv4_1_AC_joint_XY=12834;gnomADv4_1_AF_grpmax_joint=0.236954;gnomADv4_1_AF_joint=0.167979;gnomADv4_1_AF_joint_XX=0.163546;gnomADv4_1_AF_joint_XY=0.172616;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2379;gnomADv4_1_nhomalt_joint_XX=1158;gnomADv4_1_nhomalt_joint_XY=1221;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27314382 chr22_27314382_T_C T C 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.224;CADD_Rawscore=-0.397839;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA|1/2||ENST00000426467.1:n.3732T>C||3732|||||rs563522||1||HGNC|HGNC:53594|1||||||||Ensembl||T|T||||chr22:g.27314382T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+3137A>G|||||||rs563522||-1||||4||||||||Ensembl||T|T||||chr22:g.27314382T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.235-379T>C|||||||rs563522||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27314382T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs563522|2367|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27314382T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.235-379T>C|||||||rs563522||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27314382T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+3771A>G|||||||rs563522||-1||||||||||||Ensembl||T|T||||chr22:g.27314382T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+3714A>G|||||||rs563522||-1||||||||||||Ensembl||T|T||||chr22:g.27314382T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs563522|2691|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27314382T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs563522|4751|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27314382T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA|1/2||NR_134581.1:n.3732T>C||3732|||||rs563522||1||EntrezGene|HGNC:53594|||||||||RefSeq||T|T||||chr22:g.27314382T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49979;gnomADv4_1_AC_joint_XX=25604;gnomADv4_1_AC_joint_XY=24375;gnomADv4_1_AF_grpmax_joint=0.547381;gnomADv4_1_AF_joint=0.328433;gnomADv4_1_AF_joint_XX=0.32932;gnomADv4_1_AF_joint_XY=0.327507;gnomADv4_1_AN_grpmax_joint=41472;gnomADv4_1_AN_joint=152174;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9743;gnomADv4_1_nhomalt_joint_XX=5044;gnomADv4_1_nhomalt_joint_XY=4699;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27314479 chr22_27314479_T_C T C 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.571;CADD_Rawscore=-0.160177;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA|1/2||ENST00000426467.1:n.3829T>C||3829|||||rs12170215||1||HGNC|HGNC:53594|1||||||||Ensembl||T|T||||chr22:g.27314479T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+3040A>G|||||||rs12170215||-1||||4||||||||Ensembl||T|T||||chr22:g.27314479T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.235-282T>C|||||||rs12170215||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27314479T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs12170215|2464|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27314479T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.235-282T>C|||||||rs12170215||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27314479T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+3674A>G|||||||rs12170215||-1||||||||||||Ensembl||T|T||||chr22:g.27314479T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+3617A>G|||||||rs12170215||-1||||||||||||Ensembl||T|T||||chr22:g.27314479T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs12170215|2788|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27314479T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836530|lncRNA||||||||||rs12170215|4848|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27314479T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA|1/2||NR_134581.1:n.3829T>C||3829|||||rs12170215||1||EntrezGene|HGNC:53594|||||||||RefSeq||T|T||||chr22:g.27314479T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,ENST00000836530,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26041;gnomADv4_1_AC_joint_XX=13313;gnomADv4_1_AC_joint_XY=12728;gnomADv4_1_AF_grpmax_joint=0.20068;gnomADv4_1_AF_joint=0.171142;gnomADv4_1_AF_joint_XX=0.171153;gnomADv4_1_AF_joint_XY=0.17113;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2274;gnomADv4_1_nhomalt_joint_XX=1175;gnomADv4_1_nhomalt_joint_XY=1099;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27314742 chr22_27314742_G_A G A 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.017;CADD_Rawscore=-0.013353;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA|1/2||ENST00000426467.1:n.4092G>A||4092|||||rs477611||1||HGNC|HGNC:53594|1||||||||Ensembl||G|G||||chr22:g.27314742G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+2777C>T|||||||rs477611||-1||||4||||||||Ensembl||G|G||||chr22:g.27314742G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||1/3|ENST00000657960.2:n.235-19G>A|||||||rs477611||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27314742G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs477611|2727|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27314742G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||1/2|ENST00000665304.1:n.235-19G>A|||||||rs477611||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27314742G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+3411C>T|||||||rs477611||-1||||||||||||Ensembl||G|G||||chr22:g.27314742G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+3354C>T|||||||rs477611||-1||||||||||||Ensembl||G|G||||chr22:g.27314742G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs477611|3051|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27314742G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA|1/2||NR_134581.1:n.4092G>A||4092|||||rs477611||1||EntrezGene|HGNC:53594|||||||||RefSeq||G|G||||chr22:g.27314742G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=136475;gnomADv4_1_AC_joint_XX=69741;gnomADv4_1_AC_joint_XY=66734;gnomADv4_1_AF_grpmax_joint=0.998264;gnomADv4_1_AF_joint=0.895729;gnomADv4_1_AF_joint_XX=0.895654;gnomADv4_1_AF_joint_XY=0.895806;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152362;gnomADv4_1_AN_joint_XX=77866;gnomADv4_1_AN_joint_XY=74496;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61203;gnomADv4_1_nhomalt_joint_XX=31246;gnomADv4_1_nhomalt_joint_XY=29957;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27315064 chr22_27315064_G_T G T 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.372;CADD_Rawscore=-0.267138;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||1/1|ENST00000426467.1:n.4399+15G>T|||||||rs56676248||1||HGNC|HGNC:53594|1||||||||Ensembl||G|G||||chr22:g.27315064G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+2455C>A|||||||rs56676248||-1||||4||||||||Ensembl||G|G||||chr22:g.27315064G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||2/3|ENST00000657960.2:n.523+15G>T|||||||rs56676248||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27315064G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs56676248|3049|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27315064G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||2/2|ENST00000665304.1:n.523+15G>T|||||||rs56676248||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27315064G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+3089C>A|||||||rs56676248||-1||||||||||||Ensembl||G|G||||chr22:g.27315064G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+3032C>A|||||||rs56676248||-1||||||||||||Ensembl||G|G||||chr22:g.27315064G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs56676248|3373|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27315064G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||1/1|NR_134581.1:n.4399+15G>T|||||||rs56676248||1||EntrezGene|HGNC:53594|||||||||RefSeq||G|G||||chr22:g.27315064G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22696;gnomADv4_1_AC_joint_XX=11109;gnomADv4_1_AC_joint_XY=11587;gnomADv4_1_AF_grpmax_joint=0.254047;gnomADv4_1_AF_joint=0.149018;gnomADv4_1_AF_joint_XX=0.142723;gnomADv4_1_AF_joint_XY=0.155597;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152304;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1797;gnomADv4_1_nhomalt_joint_XX=820;gnomADv4_1_nhomalt_joint_XY=977;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27315097 chr22_27315097_T_C T C 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=5.162;CADD_Rawscore=0.471097;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||1/1|ENST00000426467.1:n.4399+48T>C|||||||rs61289506||1||HGNC|HGNC:53594|1||||||||Ensembl||T|T||||chr22:g.27315097T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+2422A>G|||||||rs61289506||-1||||4||||||||Ensembl||T|T||||chr22:g.27315097T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||2/3|ENST00000657960.2:n.523+48T>C|||||||rs61289506||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27315097T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs61289506|3082|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27315097T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||2/2|ENST00000665304.1:n.523+48T>C|||||||rs61289506||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27315097T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+3056A>G|||||||rs61289506||-1||||||||||||Ensembl||T|T||||chr22:g.27315097T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+2999A>G|||||||rs61289506||-1||||||||||||Ensembl||T|T||||chr22:g.27315097T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs61289506|3406|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27315097T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||1/1|NR_134581.1:n.4399+48T>C|||||||rs61289506||1||EntrezGene|HGNC:53594|||||||||RefSeq||T|T||||chr22:g.27315097T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23658;gnomADv4_1_AC_joint_XX=11617;gnomADv4_1_AC_joint_XY=12041;gnomADv4_1_AF_grpmax_joint=0.25562;gnomADv4_1_AF_joint=0.155475;gnomADv4_1_AF_joint_XX=0.149357;gnomADv4_1_AF_joint_XY=0.161872;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=152166;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1962;gnomADv4_1_nhomalt_joint_XX=898;gnomADv4_1_nhomalt_joint_XY=1064;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27315282 chr22_27315282_C_T C T 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.183;CADD_Rawscore=-0.450218;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||1/1|ENST00000426467.1:n.4399+233C>T|||||||rs13056368||1||HGNC|HGNC:53594|1||||||||Ensembl||C|C||||chr22:g.27315282C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+2237G>A|||||||rs13056368||-1||||4||||||||Ensembl||C|C||||chr22:g.27315282C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||2/3|ENST00000657960.2:n.523+233C>T|||||||rs13056368||1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27315282C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs13056368|3267|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27315282C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||2/2|ENST00000665304.1:n.523+233C>T|||||||rs13056368||1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27315282C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+2871G>A|||||||rs13056368||-1||||||||||||Ensembl||C|C||||chr22:g.27315282C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+2814G>A|||||||rs13056368||-1||||||||||||Ensembl||C|C||||chr22:g.27315282C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs13056368|3591|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27315282C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||1/1|NR_134581.1:n.4399+233C>T|||||||rs13056368||1||EntrezGene|HGNC:53594|||||||||RefSeq||C|C||||chr22:g.27315282C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000836459,ENST00000836460,ENST00000836529,NR_134581.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000223726,ENSG00000223726,ENSG00000226741,100507657;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,LINC02554,LINC02554;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26177;gnomADv4_1_AC_joint_XX=13378;gnomADv4_1_AC_joint_XY=12799;gnomADv4_1_AF_grpmax_joint=0.20068;gnomADv4_1_AF_joint=0.172371;gnomADv4_1_AF_joint_XX=0.172361;gnomADv4_1_AF_joint_XY=0.172382;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151864;gnomADv4_1_AN_joint_XX=77616;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2305;gnomADv4_1_nhomalt_joint_XX=1189;gnomADv4_1_nhomalt_joint_XY=1116;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27316032 chr22_27316032_C_G C G 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.621;CADD_Rawscore=-0.139067;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||1/1|ENST00000426467.1:n.4400-772C>G|||||||rs8141513||1||HGNC|HGNC:53594|1||||||||Ensembl||C|C||||chr22:g.27316032C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+1487G>C|||||||rs8141513||-1||||4||||||||Ensembl||C|C||||chr22:g.27316032C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||2/3|ENST00000657960.2:n.524-772C>G|||||||rs8141513||1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27316032C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs8141513|4017|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27316032C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||2/2|ENST00000665304.1:n.524-772C>G|||||||rs8141513||1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27316032C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs8141513|4512|-1||||||||||||Ensembl||C|C||||chr22:g.27316032C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs8141513|4473|-1||||||||||||Ensembl||C|C||||chr22:g.27316032C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+2121G>C|||||||rs8141513||-1||||||||||||Ensembl||C|C||||chr22:g.27316032C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+2064G>C|||||||rs8141513||-1||||||||||||Ensembl||C|C||||chr22:g.27316032C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs8141513|4341|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27316032C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||1/1|NR_134581.1:n.4400-772C>G|||||||rs8141513||1||EntrezGene|HGNC:53594|||||||||RefSeq||C|C||||chr22:g.27316032C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs8141513|4908|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27316032C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000790894,ENST00000790897,ENST00000836459,ENST00000836460,ENST00000836529,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,ENSG00000226741,100507657,105372979;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,.,.,LINC02554,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26185;gnomADv4_1_AC_joint_XX=13397;gnomADv4_1_AC_joint_XY=12788;gnomADv4_1_AF_grpmax_joint=0.20068;gnomADv4_1_AF_joint=0.172197;gnomADv4_1_AF_joint_XX=0.172384;gnomADv4_1_AF_joint_XY=0.172002;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2286;gnomADv4_1_nhomalt_joint_XX=1187;gnomADv4_1_nhomalt_joint_XY=1099;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27316559 chr22_27316559_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=39;CADD_PHREDscore=6.622;CADD_Rawscore=0.617588;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||1/1|ENST00000426467.1:n.4400-245C>T|||||||rs8137296||1||HGNC|HGNC:53594|1||||||||Ensembl||C|C||||chr22:g.27316559C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+960G>A|||||||rs8137296||-1||||4||||||||Ensembl||C|C||||chr22:g.27316559C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||2/3|ENST00000657960.2:n.524-245C>T|||||||rs8137296||1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27316559C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs8137296|4544|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27316559C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||2/2|ENST00000665304.1:n.524-245C>T|||||||rs8137296||1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27316559C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs8137296|3985|-1||||||||||||Ensembl||C|C||||chr22:g.27316559C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs8137296|3946|-1||||||||||||Ensembl||C|C||||chr22:g.27316559C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+1594G>A|||||||rs8137296||-1||||||||||||Ensembl||C|C||||chr22:g.27316559C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+1537G>A|||||||rs8137296||-1||||||||||||Ensembl||C|C||||chr22:g.27316559C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs8137296|4868|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27316559C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||1/1|NR_134581.1:n.4400-245C>T|||||||rs8137296||1||EntrezGene|HGNC:53594|||||||||RefSeq||C|C||||chr22:g.27316559C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs8137296|4381|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27316559C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000790894,ENST00000790897,ENST00000836459,ENST00000836460,ENST00000836529,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,ENSG00000226741,100507657,105372979;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,.,.,LINC02554,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25371;gnomADv4_1_AC_joint_XX=12994;gnomADv4_1_AC_joint_XY=12377;gnomADv4_1_AF_grpmax_joint=0.204861;gnomADv4_1_AF_joint=0.169336;gnomADv4_1_AF_joint_XX=0.169202;gnomADv4_1_AF_joint_XY=0.169478;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=149826;gnomADv4_1_AN_joint_XX=76796;gnomADv4_1_AN_joint_XY=73030;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2254;gnomADv4_1_nhomalt_joint_XX=1162;gnomADv4_1_nhomalt_joint_XY=1092;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27316601 chr22_27316601_TTC_T TTC T 25 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=25;CADDIndel_PHREDscore=0.719;CADDIndel_Rawscore=-0.102032;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||1/1|ENST00000426467.1:n.4400-155_4400-154del|||||||rs556096531||1||HGNC|HGNC:53594|1||||||||Ensembl||TC|TC|||47|chr22:g.27316649_27316650del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+916_495+917del|||||||rs556096531||-1||||4||||||||Ensembl||TC|TC||||chr22:g.27316649_27316650del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||2/3|ENST00000657960.2:n.524-155_524-154del|||||||rs556096531||1||HGNC|HGNC:53594|||||||||Ensembl||TC|TC|||47|chr22:g.27316649_27316650del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs556096531|4587|1||HGNC|HGNC:53594|||||||||Ensembl||TC|TC||||chr22:g.27316649_27316650del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||2/2|ENST00000665304.1:n.524-155_524-154del|||||||rs556096531||1||HGNC|HGNC:53594|||||||||Ensembl||TC|TC|||47|chr22:g.27316649_27316650del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs556096531|3941|-1||||||||||||Ensembl||TC|TC||||chr22:g.27316649_27316650del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs556096531|3902|-1||||||||||||Ensembl||TC|TC||||chr22:g.27316649_27316650del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+1550_386+1551del|||||||rs556096531||-1||||||||||||Ensembl||TC|TC||||chr22:g.27316649_27316650del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+1493_428+1494del|||||||rs556096531||-1||||||||||||Ensembl||TC|TC||||chr22:g.27316649_27316650del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs556096531|4911|1||HGNC|HGNC:53594|||||||||Ensembl||TC|TC||||chr22:g.27316649_27316650del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||1/1|NR_134581.1:n.4400-155_4400-154del|||||||rs556096531||1||EntrezGene|HGNC:53594|||||||||RefSeq||TC|TC|||47|chr22:g.27316649_27316650del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs556096531|4337|-1||EntrezGene||||||||||RefSeq||TC|TC||||chr22:g.27316649_27316650del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000790894,ENST00000790897,ENST00000836459,ENST00000836460,ENST00000836529,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,ENSG00000226741,100507657,105372979;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,.,.,LINC02554,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5623;gnomADv4_1_AC_joint_XX=3044;gnomADv4_1_AC_joint_XY=2579;gnomADv4_1_AF_grpmax_joint=0.152219;gnomADv4_1_AF_joint=0.0826644;gnomADv4_1_AF_joint_XX=0.0841535;gnomADv4_1_AF_joint_XY=0.0809733;gnomADv4_1_AN_grpmax_joint=1938;gnomADv4_1_AN_joint=68022;gnomADv4_1_AN_joint_XX=36172;gnomADv4_1_AN_joint_XY=31850;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=86;gnomADv4_1_nhomalt_joint_XX=45;gnomADv4_1_nhomalt_joint_XY=41;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27316608 chr22_27316608_T_TCC T TCC 24 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=24;CADDIndel_PHREDscore=2.07;CADDIndel_Rawscore=0.173097;CSQ=CC|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||1/1|ENST00000426467.1:n.4400-195_4400-194insCC|||||||rs200560056||1||HGNC|HGNC:53594|1||||||||Ensembl||||||1|chr22:g.27316609_27316610insCC|||||||||||||,CC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+910_495+911insGG|||||||rs200560056||-1||||4||||||||Ensembl|||||||chr22:g.27316609_27316610insCC|||||||||||||,CC|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||2/3|ENST00000657960.2:n.524-195_524-194insCC|||||||rs200560056||1||HGNC|HGNC:53594|||||||||Ensembl||||||1|chr22:g.27316609_27316610insCC|||||||||||||,CC|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs200560056|4593|1||HGNC|HGNC:53594|||||||||Ensembl|||||||chr22:g.27316609_27316610insCC|||||||||||||,CC|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||2/2|ENST00000665304.1:n.524-195_524-194insCC|||||||rs200560056||1||HGNC|HGNC:53594|||||||||Ensembl||||||1|chr22:g.27316609_27316610insCC|||||||||||||,CC|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs200560056|3935|-1||||||||||||Ensembl|||||||chr22:g.27316609_27316610insCC|||||||||||||,CC|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs200560056|3896|-1||||||||||||Ensembl|||||||chr22:g.27316609_27316610insCC|||||||||||||,CC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+1544_386+1545insGG|||||||rs200560056||-1||||||||||||Ensembl|||||||chr22:g.27316609_27316610insCC|||||||||||||,CC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+1487_428+1488insGG|||||||rs200560056||-1||||||||||||Ensembl|||||||chr22:g.27316609_27316610insCC|||||||||||||,CC|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs200560056|4917|1||HGNC|HGNC:53594|||||||||Ensembl|||||||chr22:g.27316609_27316610insCC|||||||||||||,CC|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||1/1|NR_134581.1:n.4400-195_4400-194insCC|||||||rs200560056||1||EntrezGene|HGNC:53594|||||||||RefSeq||||||1|chr22:g.27316609_27316610insCC|||||||||||||,CC|downstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs200560056|4331|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27316609_27316610insCC|||||||||||||;TYPE=INDEL;VEP_Allele=CC,CC,CC,CC,CC,CC,CC,CC,CC,CC,CC,CC;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000790894,ENST00000790897,ENST00000836459,ENST00000836460,ENST00000836529,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,ENSG00000226741,100507657,105372979;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,.,.,LINC02554,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30302;gnomADv4_1_AC_joint_XX=15775;gnomADv4_1_AC_joint_XY=14527;gnomADv4_1_AF_grpmax_joint=0.30916;gnomADv4_1_AF_joint=0.227862;gnomADv4_1_AF_joint_XX=0.22999;gnomADv4_1_AF_joint_XY=0.225596;gnomADv4_1_AN_grpmax_joint=262;gnomADv4_1_AN_joint=132984;gnomADv4_1_AN_joint_XX=68590;gnomADv4_1_AN_joint_XY=64394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3927;gnomADv4_1_nhomalt_joint_XX=2007;gnomADv4_1_nhomalt_joint_XY=1920;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27316609 chr22_27316609_CT_C CT C 23 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=23;CADDIndel_PHREDscore=2.102;CADDIndel_Rawscore=0.177113;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||1/1|ENST00000426467.1:n.4400-194del|||||||rs879620065||1||HGNC|HGNC:53594|1||||||||Ensembl||T|T||||chr22:g.27316610del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+909del|||||||rs879620065||-1||||4||||||||Ensembl||T|T||||chr22:g.27316610del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||2/3|ENST00000657960.2:n.524-194del|||||||rs879620065||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27316610del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs879620065|4595|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27316610del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||2/2|ENST00000665304.1:n.524-194del|||||||rs879620065||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27316610del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs879620065|3934|-1||||||||||||Ensembl||T|T||||chr22:g.27316610del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs879620065|3895|-1||||||||||||Ensembl||T|T||||chr22:g.27316610del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+1543del|||||||rs879620065||-1||||||||||||Ensembl||T|T||||chr22:g.27316610del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+1486del|||||||rs879620065||-1||||||||||||Ensembl||T|T||||chr22:g.27316610del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs879620065|4919|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27316610del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||1/1|NR_134581.1:n.4400-194del|||||||rs879620065||1||EntrezGene|HGNC:53594|||||||||RefSeq||T|T||||chr22:g.27316610del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs879620065|4330|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27316610del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000790894,ENST00000790897,ENST00000836459,ENST00000836460,ENST00000836529,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,ENSG00000226741,100507657,105372979;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,.,.,LINC02554,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19055;gnomADv4_1_AC_joint_XX=9804;gnomADv4_1_AC_joint_XY=9251;gnomADv4_1_AF_grpmax_joint=0.400659;gnomADv4_1_AF_joint=0.187376;gnomADv4_1_AF_joint_XX=0.187982;gnomADv4_1_AF_joint_XY=0.186738;gnomADv4_1_AN_grpmax_joint=27320;gnomADv4_1_AN_joint=101694;gnomADv4_1_AN_joint_XX=52154;gnomADv4_1_AN_joint_XY=49540;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2046;gnomADv4_1_nhomalt_joint_XX=1050;gnomADv4_1_nhomalt_joint_XY=996;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27316611 chr22_27316612_T_C;chr22_27316611_CT_C CT C 28 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=28;CADDIndel_PHREDscore=0.91;CADDIndel_Rawscore=-0.042045;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||1/1|ENST00000426467.1:n.4400-192del|||||||rs1569031552||1||HGNC|HGNC:53594|1||||||||Ensembl||T|T||||chr22:g.27316612del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+907del|||||||rs1569031552||-1||||4||||||||Ensembl||T|T||||chr22:g.27316612del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||2/3|ENST00000657960.2:n.524-192del|||||||rs1569031552||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27316612del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs1569031552|4597|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27316612del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||2/2|ENST00000665304.1:n.524-192del|||||||rs1569031552||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27316612del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs1569031552|3932|-1||||||||||||Ensembl||T|T||||chr22:g.27316612del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs1569031552|3893|-1||||||||||||Ensembl||T|T||||chr22:g.27316612del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+1541del|||||||rs1569031552||-1||||||||||||Ensembl||T|T||||chr22:g.27316612del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+1484del|||||||rs1569031552||-1||||||||||||Ensembl||T|T||||chr22:g.27316612del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs1569031552|4921|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27316612del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||1/1|NR_134581.1:n.4400-192del|||||||rs1569031552||1||EntrezGene|HGNC:53594|||||||||RefSeq||T|T||||chr22:g.27316612del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs1569031552|4328|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27316612del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000790894,ENST00000790897,ENST00000836459,ENST00000836460,ENST00000836529,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,ENSG00000226741,100507657,105372979;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,.,.,LINC02554,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5999;gnomADv4_1_AC_joint_XX=3058;gnomADv4_1_AC_joint_XY=2941;gnomADv4_1_AF_grpmax_joint=0.0855556;gnomADv4_1_AF_joint=0.0408129;gnomADv4_1_AF_joint_XX=0.0405721;gnomADv4_1_AF_joint_XY=0.0410662;gnomADv4_1_AN_grpmax_joint=4500;gnomADv4_1_AN_joint=146988;gnomADv4_1_AN_joint_XX=75372;gnomADv4_1_AN_joint_XY=71616;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=254;gnomADv4_1_nhomalt_joint_XX=120;gnomADv4_1_nhomalt_joint_XY=134;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27316612 chr22_27316612_T_C;chr22_27316611_CT_C T C 28 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=26;CADD_PHREDscore=3.449;CADD_Rawscore=0.316059;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||1/1|ENST00000426467.1:n.4400-192T>C|||||||rs866459700||1||HGNC|HGNC:53594|1||||||||Ensembl||T|T||||chr22:g.27316612T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+907A>G|||||||rs866459700||-1||||4||||||||Ensembl||T|T||||chr22:g.27316612T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||2/3|ENST00000657960.2:n.524-192T>C|||||||rs866459700||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27316612T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs866459700|4597|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27316612T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||2/2|ENST00000665304.1:n.524-192T>C|||||||rs866459700||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27316612T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs866459700|3932|-1||||||||||||Ensembl||T|T||||chr22:g.27316612T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs866459700|3893|-1||||||||||||Ensembl||T|T||||chr22:g.27316612T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+1541A>G|||||||rs866459700||-1||||||||||||Ensembl||T|T||||chr22:g.27316612T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+1484A>G|||||||rs866459700||-1||||||||||||Ensembl||T|T||||chr22:g.27316612T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000836529|lncRNA||||||||||rs866459700|4921|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27316612T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||1/1|NR_134581.1:n.4400-192T>C|||||||rs866459700||1||EntrezGene|HGNC:53594|||||||||RefSeq||T|T||||chr22:g.27316612T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs866459700|4328|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27316612T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000790894,ENST00000790897,ENST00000836459,ENST00000836460,ENST00000836529,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,ENSG00000226741,100507657,105372979;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,.,.,LINC02554,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22899;gnomADv4_1_AC_joint_XX=11845;gnomADv4_1_AC_joint_XY=11054;gnomADv4_1_AF_grpmax_joint=0.297821;gnomADv4_1_AF_joint=0.202181;gnomADv4_1_AF_joint_XX=0.202818;gnomADv4_1_AF_joint_XY=0.201502;gnomADv4_1_AN_grpmax_joint=22302;gnomADv4_1_AN_joint=113260;gnomADv4_1_AN_joint_XX=58402;gnomADv4_1_AN_joint_XY=54858;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2343;gnomADv4_1_nhomalt_joint_XX=1164;gnomADv4_1_nhomalt_joint_XY=1179;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27316720 chr22_27316720_A_G A G 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.168;CADD_Rawscore=-0.472543;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||1/1|ENST00000426467.1:n.4400-84A>G|||||||rs541266||1||HGNC|HGNC:53594|1||||||||Ensembl||A|A||||chr22:g.27316720A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+799T>C|||||||rs541266||-1||||4||||||||Ensembl||A|A||||chr22:g.27316720A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||2/3|ENST00000657960.2:n.524-84A>G|||||||rs541266||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27316720A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000662296|lncRNA||||||||||rs541266|4705|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27316720A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||2/2|ENST00000665304.1:n.524-84A>G|||||||rs541266||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27316720A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs541266|3824|-1||||||||||||Ensembl||A|A||||chr22:g.27316720A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs541266|3785|-1||||||||||||Ensembl||A|A||||chr22:g.27316720A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+1433T>C|||||||rs541266||-1||||||||||||Ensembl||A|A||||chr22:g.27316720A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+1376T>C|||||||rs541266||-1||||||||||||Ensembl||A|A||||chr22:g.27316720A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||1/1|NR_134581.1:n.4400-84A>G|||||||rs541266||1||EntrezGene|HGNC:53594|||||||||RefSeq||A|A||||chr22:g.27316720A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs541266|4220|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27316720A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000662296,ENST00000665304,ENST00000790894,ENST00000790897,ENST00000836459,ENST00000836460,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,100507657,105372979;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,LINC02554,.,.,.,.,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49027;gnomADv4_1_AC_joint_XX=25318;gnomADv4_1_AC_joint_XY=23709;gnomADv4_1_AF_grpmax_joint=0.509967;gnomADv4_1_AF_joint=0.325895;gnomADv4_1_AF_joint_XX=0.328038;gnomADv4_1_AF_joint_XY=0.323637;gnomADv4_1_AN_grpmax_joint=40934;gnomADv4_1_AN_joint=150438;gnomADv4_1_AN_joint_XX=77180;gnomADv4_1_AN_joint_XY=73258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8966;gnomADv4_1_nhomalt_joint_XX=4694;gnomADv4_1_nhomalt_joint_XY=4272;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27317035 chr22_27317035_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.272;CADD_Rawscore=0.299938;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA|2/2||ENST00000426467.1:n.4631T>C||4631|||||rs543981||1||HGNC|HGNC:53594|1||||||||Ensembl||T|T||||chr22:g.27317035T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+484A>G|||||||rs543981||-1||||4||||||||Ensembl||T|T||||chr22:g.27317035T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||3/3|ENST00000657960.2:n.731+24T>C|||||||rs543981||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27317035T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA|3/3||ENST00000665304.1:n.755T>C||755|||||rs543981||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27317035T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs543981|3509|-1||||||||||||Ensembl||T|T||||chr22:g.27317035T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs543981|4828|-1||||||||||||Ensembl||T|T||||chr22:g.27317035T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs543981|4946|-1||||||||||||Ensembl||T|T||||chr22:g.27317035T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs543981|3470|-1||||||||||||Ensembl||T|T||||chr22:g.27317035T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+1118A>G|||||||rs543981||-1||||||||||||Ensembl||T|T||||chr22:g.27317035T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+1061A>G|||||||rs543981||-1||||||||||||Ensembl||T|T||||chr22:g.27317035T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA|2/2||NR_134581.1:n.4631T>C||4631|||||rs543981||1||EntrezGene|HGNC:53594|||||||||RefSeq||T|T||||chr22:g.27317035T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs543981|3905|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27317035T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000665304,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000836459,ENST00000836460,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,100507657,105372979;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,.,.,.,.,.,.,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=116827;gnomADv4_1_AC_joint_XX=59904;gnomADv4_1_AC_joint_XY=56923;gnomADv4_1_AF_grpmax_joint=0.938499;gnomADv4_1_AF_joint=0.76775;gnomADv4_1_AF_joint_XX=0.770232;gnomADv4_1_AF_joint_XY=0.765156;gnomADv4_1_AN_grpmax_joint=41544;gnomADv4_1_AN_joint=152168;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=45735;gnomADv4_1_nhomalt_joint_XX=23494;gnomADv4_1_nhomalt_joint_XY=22241;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27317395 chr22_27317395_C_T C T 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=4.659;CADD_Rawscore=0.424316;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA|2/2||ENST00000426467.1:n.4991C>T||4991|||||rs35173189||1||HGNC|HGNC:53594|1||||||||Ensembl||C|C||||chr22:g.27317395C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+124G>A|||||||rs35173189||-1||||4||||||||Ensembl||C|C||||chr22:g.27317395C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA|4/4||ENST00000657960.2:n.989C>T||989|||||rs35173189||1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27317395C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA|3/3||ENST00000665304.1:n.1115C>T||1115|||||rs35173189||1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27317395C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs35173189|3149|-1||||||||||||Ensembl||C|C||||chr22:g.27317395C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs35173189|4468|-1||||||||||||Ensembl||C|C||||chr22:g.27317395C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs35173189|4586|-1||||||||||||Ensembl||C|C||||chr22:g.27317395C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs35173189|3110|-1||||||||||||Ensembl||C|C||||chr22:g.27317395C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+758G>A|||||||rs35173189||-1||||||||||||Ensembl||C|C||||chr22:g.27317395C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+701G>A|||||||rs35173189||-1||||||||||||Ensembl||C|C||||chr22:g.27317395C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA|2/2||NR_134581.1:n.4991C>T||4991|||||rs35173189||1||EntrezGene|HGNC:53594|||||||||RefSeq||C|C||||chr22:g.27317395C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs35173189|3545|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27317395C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RNHM|enhancer||||||||||rs35173189|||||||||||||||||||||chr22:g.27317395C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000665304,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000836459,ENST00000836460,NR_134581.1,XR_938121.2,ENSR22_8RNHM;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,100507657,105372979,.;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,.,.,.,.,.,.,LINC02554,LOC105372979,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24908;gnomADv4_1_AC_joint_XX=12303;gnomADv4_1_AC_joint_XY=12605;gnomADv4_1_AF_grpmax_joint=0.242354;gnomADv4_1_AF_joint=0.16364;gnomADv4_1_AF_joint_XX=0.158201;gnomADv4_1_AF_joint_XY=0.169322;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152212;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2188;gnomADv4_1_nhomalt_joint_XX=1037;gnomADv4_1_nhomalt_joint_XY=1151;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27317413 chr22_27317413_A_G A G 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.848;CADD_Rawscore=-0.060295;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA|2/2||ENST00000426467.1:n.5009A>G||5009|||||rs543934||1||HGNC|HGNC:53594|1||||||||Ensembl||A|A||||chr22:g.27317413A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+106T>C|||||||rs543934||-1||||4||||||||Ensembl||A|A||||chr22:g.27317413A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA|4/4||ENST00000657960.2:n.1007A>G||1007|||||rs543934||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27317413A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA|3/3||ENST00000665304.1:n.1133A>G||1133|||||rs543934||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27317413A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs543934|3131|-1||||||||||||Ensembl||A|A||||chr22:g.27317413A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs543934|4450|-1||||||||||||Ensembl||A|A||||chr22:g.27317413A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs543934|4568|-1||||||||||||Ensembl||A|A||||chr22:g.27317413A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs543934|3092|-1||||||||||||Ensembl||A|A||||chr22:g.27317413A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+740T>C|||||||rs543934||-1||||||||||||Ensembl||A|A||||chr22:g.27317413A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+683T>C|||||||rs543934||-1||||||||||||Ensembl||A|A||||chr22:g.27317413A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA|2/2||NR_134581.1:n.5009A>G||5009|||||rs543934||1||EntrezGene|HGNC:53594|||||||||RefSeq||A|A||||chr22:g.27317413A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs543934|3527|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27317413A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RNHM|enhancer||||||||||rs543934|||||||||||||||||||||chr22:g.27317413A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000665304,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000836459,ENST00000836460,NR_134581.1,XR_938121.2,ENSR22_8RNHM;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,100507657,105372979,.;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,.,.,.,.,.,.,LINC02554,LOC105372979,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=83174;gnomADv4_1_AC_joint_XX=42312;gnomADv4_1_AC_joint_XY=40862;gnomADv4_1_AF_grpmax_joint=0.801201;gnomADv4_1_AF_joint=0.546924;gnomADv4_1_AF_joint_XX=0.54443;gnomADv4_1_AF_joint_XY=0.549531;gnomADv4_1_AN_grpmax_joint=41454;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24923;gnomADv4_1_nhomalt_joint_XX=12609;gnomADv4_1_nhomalt_joint_XY=12314;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27317480 chr22_27317480_CT_C CT C 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.623;CADDIndel_Rawscore=-0.138174;CSQ=-|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs34866710|25|1||HGNC|HGNC:53594|1||||||||Ensembl||T|T||||chr22:g.27317481del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||2/2|ENST00000454387.2:n.495+38del|||||||rs34866710||-1||||4||||||||Ensembl||T|T||||chr22:g.27317481del|||||||||||||,-|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs34866710|24|1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27317481del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA|3/3||ENST00000665304.1:n.1201del||1201|||||rs34866710||1||HGNC|HGNC:53594|||||||||Ensembl||T|T||||chr22:g.27317481del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs34866710|3063|-1||||||||||||Ensembl||T|T||||chr22:g.27317481del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs34866710|4382|-1||||||||||||Ensembl||T|T||||chr22:g.27317481del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs34866710|4500|-1||||||||||||Ensembl||T|T||||chr22:g.27317481del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs34866710|3024|-1||||||||||||Ensembl||T|T||||chr22:g.27317481del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+672del|||||||rs34866710||-1||||||||||||Ensembl||T|T||||chr22:g.27317481del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+615del|||||||rs34866710||-1||||||||||||Ensembl||T|T||||chr22:g.27317481del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA|2/2||NR_134581.1:n.5077del||5077|||||rs34866710||1||EntrezGene|HGNC:53594|||||||||RefSeq||T|T||||chr22:g.27317481del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs34866710|3459|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27317481del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000665304,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000836459,ENST00000836460,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,100507657,105372979;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,.,.,.,.,.,.,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57093;gnomADv4_1_AC_joint_XX=29402;gnomADv4_1_AC_joint_XY=27691;gnomADv4_1_AF_grpmax_joint=0.552241;gnomADv4_1_AF_joint=0.375676;gnomADv4_1_AF_joint_XX=0.378511;gnomADv4_1_AF_joint_XY=0.372712;gnomADv4_1_AN_grpmax_joint=41366;gnomADv4_1_AN_joint=151974;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11604;gnomADv4_1_nhomalt_joint_XX=6010;gnomADv4_1_nhomalt_joint_XY=5594;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27317867 chr22_27317867_G_C G C 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=2.48;CADD_Rawscore=0.221522;CSQ=C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs9620683|411|1||HGNC|HGNC:53594|1||||||||Ensembl||G|G||||chr22:g.27317867G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||1/2|ENST00000454387.2:n.387-240C>G|||||||rs9620683||-1||||4||||||||Ensembl||G|G||||chr22:g.27317867G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs9620683|410|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27317867G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA|3/3||ENST00000665304.1:n.1587G>C||1587|||||rs9620683||1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27317867G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs9620683|2677|-1||||||||||||Ensembl||G|G||||chr22:g.27317867G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs9620683|3996|-1||||||||||||Ensembl||G|G||||chr22:g.27317867G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs9620683|4114|-1||||||||||||Ensembl||G|G||||chr22:g.27317867G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs9620683|2638|-1||||||||||||Ensembl||G|G||||chr22:g.27317867G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+286C>G|||||||rs9620683||-1||||||||||||Ensembl||G|G||||chr22:g.27317867G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+229C>G|||||||rs9620683||-1||||||||||||Ensembl||G|G||||chr22:g.27317867G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs9620683|27|1||EntrezGene|HGNC:53594|||||||||RefSeq||G|G||||chr22:g.27317867G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs9620683|3073|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27317867G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000665304,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000836459,ENST00000836460,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,100507657,105372979;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,.,.,.,.,.,.,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28875;gnomADv4_1_AC_joint_XX=14880;gnomADv4_1_AC_joint_XY=13995;gnomADv4_1_AF_grpmax_joint=0.227891;gnomADv4_1_AF_joint=0.190042;gnomADv4_1_AF_joint_XX=0.191565;gnomADv4_1_AF_joint_XY=0.188449;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151940;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2731;gnomADv4_1_nhomalt_joint_XX=1417;gnomADv4_1_nhomalt_joint_XY=1314;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27317888 chr22_27317888_A_C A C 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=2.484;CADD_Rawscore=0.221899;CSQ=C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs1106715|432|1||HGNC|HGNC:53594|1||||||||Ensembl||A|A||||chr22:g.27317888A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||1/2|ENST00000454387.2:n.387-261T>G|||||||rs1106715||-1||||4||||||||Ensembl||A|A||||chr22:g.27317888A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs1106715|431|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27317888A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA|3/3||ENST00000665304.1:n.1608A>C||1608|||||rs1106715||1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27317888A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs1106715|2656|-1||||||||||||Ensembl||A|A||||chr22:g.27317888A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs1106715|3975|-1||||||||||||Ensembl||A|A||||chr22:g.27317888A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs1106715|4093|-1||||||||||||Ensembl||A|A||||chr22:g.27317888A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs1106715|2617|-1||||||||||||Ensembl||A|A||||chr22:g.27317888A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||1/1|ENST00000836459.1:n.386+265T>G|||||||rs1106715||-1||||||||||||Ensembl||A|A||||chr22:g.27317888A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||1/1|ENST00000836460.1:n.428+208T>G|||||||rs1106715||-1||||||||||||Ensembl||A|A||||chr22:g.27317888A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs1106715|48|1||EntrezGene|HGNC:53594|||||||||RefSeq||A|A||||chr22:g.27317888A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs1106715|3052|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27317888A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000665304,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000836459,ENST00000836460,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,100507657,105372979;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,.,.,.,.,.,.,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24993;gnomADv4_1_AC_joint_XX=12357;gnomADv4_1_AC_joint_XY=12636;gnomADv4_1_AF_grpmax_joint=0.245136;gnomADv4_1_AF_joint=0.164436;gnomADv4_1_AF_joint_XX=0.159068;gnomADv4_1_AF_joint_XY=0.170049;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2221;gnomADv4_1_nhomalt_joint_XX=1048;gnomADv4_1_nhomalt_joint_XY=1173;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27318613 chr22_27318613_A_G A G 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=2.653;CADD_Rawscore=0.239986;CSQ=G|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs9608597|1157|1||HGNC|HGNC:53594|1||||||||Ensembl||A|A||||chr22:g.27318613A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs9608597|75|-1||||4||||||||Ensembl||A|A||||chr22:g.27318613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs9608597|1156|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27318613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs9608597|112|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27318613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs9608597|1931|-1||||||||||||Ensembl||A|A||||chr22:g.27318613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs9608597|3250|-1||||||||||||Ensembl||A|A||||chr22:g.27318613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs9608597|3368|-1||||||||||||Ensembl||A|A||||chr22:g.27318613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs9608597|1892|-1||||||||||||Ensembl||A|A||||chr22:g.27318613A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs9608597|75|-1||||||||||||Ensembl||A|A||||chr22:g.27318613A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs9608597|90|-1||||||||||||Ensembl||A|A||||chr22:g.27318613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs9608597|773|1||EntrezGene|HGNC:53594|||||||||RefSeq||A|A||||chr22:g.27318613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs9608597|2327|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27318613A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DSQP|promoter||||||||||rs9608597|||||||||||||||||||||chr22:g.27318613A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000665304,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000836459,ENST00000836460,NR_134581.1,XR_938121.2,ENSR22_9DSQP;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,100507657,105372979,.;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,.,.,.,.,.,.,LINC02554,LOC105372979,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48612;gnomADv4_1_AC_joint_XX=24973;gnomADv4_1_AC_joint_XY=23639;gnomADv4_1_AF_grpmax_joint=0.454117;gnomADv4_1_AF_joint=0.319984;gnomADv4_1_AF_joint_XX=0.321659;gnomADv4_1_AF_joint_XY=0.318233;gnomADv4_1_AN_grpmax_joint=41388;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8339;gnomADv4_1_nhomalt_joint_XX=4316;gnomADv4_1_nhomalt_joint_XY=4023;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27319248 chr22_27319248_G_A G A 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=4.913;CADD_Rawscore=0.447758;CSQ=A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs1607498|1792|1||HGNC|HGNC:53594|1||||||||Ensembl||G|G||||chr22:g.27319248G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs1607498|710|-1||||4||||||||Ensembl||G|G||||chr22:g.27319248G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs1607498|1791|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27319248G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs1607498|747|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27319248G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs1607498|1296|-1||||||||||||Ensembl||G|G||||chr22:g.27319248G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs1607498|2615|-1||||||||||||Ensembl||G|G||||chr22:g.27319248G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs1607498|2733|-1||||||||||||Ensembl||G|G||||chr22:g.27319248G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs1607498|1257|-1||||||||||||Ensembl||G|G||||chr22:g.27319248G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs1607498|710|-1||||||||||||Ensembl||G|G||||chr22:g.27319248G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs1607498|725|-1||||||||||||Ensembl||G|G||||chr22:g.27319248G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs1607498|1408|1||EntrezGene|HGNC:53594|||||||||RefSeq||G|G||||chr22:g.27319248G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs1607498|1692|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27319248G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000665304,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000836459,ENST00000836460,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,100507657,105372979;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,.,.,.,.,.,.,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24977;gnomADv4_1_AC_joint_XX=12348;gnomADv4_1_AC_joint_XY=12629;gnomADv4_1_AF_grpmax_joint=0.242372;gnomADv4_1_AF_joint=0.164175;gnomADv4_1_AF_joint_XX=0.158813;gnomADv4_1_AF_joint_XY=0.169781;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2208;gnomADv4_1_nhomalt_joint_XX=1049;gnomADv4_1_nhomalt_joint_XY=1159;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27321155 chr22_27321155_G_A G A 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.291;CADD_Rawscore=-0.329822;CSQ=A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs9613422|3699|1||HGNC|HGNC:53594|1||||||||Ensembl||G|G||||chr22:g.27321155G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs9613422|2617|-1||||4||||||||Ensembl||G|G||||chr22:g.27321155G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs9613422|3698|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27321155G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs9613422|2654|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27321155G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||5/5|ENST00000790894.1:n.583-116C>T|||||||rs9613422||-1||||||||||||Ensembl||G|G||||chr22:g.27321155G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs9613422|708|-1||||||||||||Ensembl||G|G||||chr22:g.27321155G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs9613422|826|-1||||||||||||Ensembl||G|G||||chr22:g.27321155G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||1/1|ENST00000790897.1:n.159-116C>T|||||||rs9613422||-1||||||||||||Ensembl||G|G||||chr22:g.27321155G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs9613422|2617|-1||||||||||||Ensembl||G|G||||chr22:g.27321155G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs9613422|2632|-1||||||||||||Ensembl||G|G||||chr22:g.27321155G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs9613422|3315|1||EntrezGene|HGNC:53594|||||||||RefSeq||G|G||||chr22:g.27321155G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||2/2|XR_938121.2:n.388-116C>T|||||||rs9613422||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27321155G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000665304,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000836459,ENST00000836460,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,100507657,105372979;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,.,.,.,.,.,.,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28428;gnomADv4_1_AC_joint_XX=14656;gnomADv4_1_AC_joint_XY=13772;gnomADv4_1_AF_grpmax_joint=0.227891;gnomADv4_1_AF_joint=0.186847;gnomADv4_1_AF_joint_XX=0.188443;gnomADv4_1_AF_joint_XY=0.185177;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2654;gnomADv4_1_nhomalt_joint_XX=1377;gnomADv4_1_nhomalt_joint_XY=1277;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27321173 chr22_27321173_G_A G A 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.938;CADD_Rawscore=0.155626;CSQ=A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs9306439|3717|1||HGNC|HGNC:53594|1||||||||Ensembl||G|G||||chr22:g.27321173G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs9306439|2635|-1||||4||||||||Ensembl||G|G||||chr22:g.27321173G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs9306439|3716|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27321173G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs9306439|2672|1||HGNC|HGNC:53594|||||||||Ensembl||G|G||||chr22:g.27321173G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||5/5|ENST00000790894.1:n.583-134C>T|||||||rs9306439||-1||||||||||||Ensembl||G|G||||chr22:g.27321173G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs9306439|690|-1||||||||||||Ensembl||G|G||||chr22:g.27321173G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs9306439|808|-1||||||||||||Ensembl||G|G||||chr22:g.27321173G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||1/1|ENST00000790897.1:n.159-134C>T|||||||rs9306439||-1||||||||||||Ensembl||G|G||||chr22:g.27321173G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs9306439|2635|-1||||||||||||Ensembl||G|G||||chr22:g.27321173G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs9306439|2650|-1||||||||||||Ensembl||G|G||||chr22:g.27321173G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs9306439|3333|1||EntrezGene|HGNC:53594|||||||||RefSeq||G|G||||chr22:g.27321173G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||2/2|XR_938121.2:n.388-134C>T|||||||rs9306439||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27321173G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000665304,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000836459,ENST00000836460,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,100507657,105372979;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,.,.,.,.,.,.,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28599;gnomADv4_1_AC_joint_XX=14742;gnomADv4_1_AC_joint_XY=13857;gnomADv4_1_AF_grpmax_joint=0.227891;gnomADv4_1_AF_joint=0.188057;gnomADv4_1_AF_joint_XX=0.189617;gnomADv4_1_AF_joint_XY=0.186425;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2683;gnomADv4_1_nhomalt_joint_XX=1393;gnomADv4_1_nhomalt_joint_XY=1290;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27321755 chr22_27321755_A_G A G 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.01;CADD_Rawscore=-1.26216;CSQ=G|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000426467|lncRNA||||||||||rs497150|4299|1||HGNC|HGNC:53594|1||||||||Ensembl||A|A||||chr22:g.27321755A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs497150|3217|-1||||4||||||||Ensembl||A|A||||chr22:g.27321755A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000657960|lncRNA||||||||||rs497150|4298|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27321755A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs497150|3254|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27321755A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||5/5|ENST00000790894.1:n.582+257T>C|||||||rs497150||-1||||||||||||Ensembl||A|A||||chr22:g.27321755A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs497150|108|-1||||||||||||Ensembl||A|A||||chr22:g.27321755A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs497150|226|-1||||||||||||Ensembl||A|A||||chr22:g.27321755A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||1/1|ENST00000790897.1:n.158+257T>C|||||||rs497150||-1||||||||||||Ensembl||A|A||||chr22:g.27321755A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs497150|3217|-1||||||||||||Ensembl||A|A||||chr22:g.27321755A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs497150|3232|-1||||||||||||Ensembl||A|A||||chr22:g.27321755A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs497150|3915|1||EntrezGene|HGNC:53594|||||||||RefSeq||A|A||||chr22:g.27321755A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA|2/3||XR_938121.2:n.348T>C||348|||||rs497150||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27321755A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000426467,ENST00000454387,ENST00000657960,ENST00000665304,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000836459,ENST00000836460,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226741,ENSG00000223726,ENSG00000226741,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,100507657,105372979;VEP_SYMBOL=LINC02554,.,LINC02554,LINC02554,.,.,.,.,.,.,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52595;gnomADv4_1_AC_joint_XX=27063;gnomADv4_1_AC_joint_XY=25532;gnomADv4_1_AF_grpmax_joint=0.543534;gnomADv4_1_AF_joint=0.345815;gnomADv4_1_AF_joint_XX=0.348212;gnomADv4_1_AF_joint_XY=0.34331;gnomADv4_1_AN_grpmax_joint=41462;gnomADv4_1_AN_joint=152090;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10260;gnomADv4_1_nhomalt_joint_XX=5318;gnomADv4_1_nhomalt_joint_XY=4942;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27322656 chr22_27322656_A_G A G 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.54;CADD_Rawscore=0.095018;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs84312|4118|-1||||4||||||||Ensembl||A|A||||chr22:g.27322656A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs84312|4155|1||HGNC|HGNC:53594|||||||||Ensembl||A|A||||chr22:g.27322656A>G|||||||||||||,G|splice_donor_variant&non_coding_transcript_variant|HIGH||ENSG00000302993|Transcript|ENST00000790894|lncRNA||3/5|ENST00000790894.1:n.311+2T>C|||||||rs84312||-1||||||||||||Ensembl||A|A||||chr22:g.27322656A>G|||||||||||||,G|splice_donor_variant&non_coding_transcript_variant|HIGH||ENSG00000302993|Transcript|ENST00000790895|lncRNA||2/4|ENST00000790895.1:n.241+2T>C|||||||rs84312||-1||||||||||||Ensembl||A|A||||chr22:g.27322656A>G|||||||||||||,G|splice_donor_variant&non_coding_transcript_variant|HIGH||ENSG00000302993|Transcript|ENST00000790896|lncRNA||2/3|ENST00000790896.1:n.244+2T>C|||||||rs84312||-1||||||||||||Ensembl||A|A||||chr22:g.27322656A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs84312|487|-1||||||||||||Ensembl||A|A||||chr22:g.27322656A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs84312|4118|-1||||||||||||Ensembl||A|A||||chr22:g.27322656A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs84312|4133|-1||||||||||||Ensembl||A|A||||chr22:g.27322656A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs84312|4816|1||EntrezGene|HGNC:53594|||||||||RefSeq||A|A||||chr22:g.27322656A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs84312|435|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27322656A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000454387,ENST00000665304,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000836459,ENST00000836460,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,100507657,105372979;VEP_SYMBOL=.,LINC02554,.,.,.,.,.,.,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58143;gnomADv4_1_AC_joint_XX=29928;gnomADv4_1_AC_joint_XY=28215;gnomADv4_1_AF_grpmax_joint=0.586623;gnomADv4_1_AF_joint=0.382198;gnomADv4_1_AF_joint_XX=0.384976;gnomADv4_1_AF_joint_XY=0.379295;gnomADv4_1_AN_grpmax_joint=41490;gnomADv4_1_AN_joint=152128;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=12357;gnomADv4_1_nhomalt_joint_XX=6410;gnomADv4_1_nhomalt_joint_XY=5947;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27322744 chr22_27322744_C_A C A 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=6.462;CADD_Rawscore=0.600769;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000454387|lncRNA||||||||||rs736951|4206|-1||||4||||||||Ensembl||C|C||||chr22:g.27322744C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|ENSG00000226741|Transcript|ENST00000665304|lncRNA||||||||||rs736951|4243|1||HGNC|HGNC:53594|||||||||Ensembl||C|C||||chr22:g.27322744C>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA|3/6||ENST00000790894.1:n.225G>T||225|||||rs736951||-1||||||||||||Ensembl||C|C||||chr22:g.27322744C>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA|2/5||ENST00000790895.1:n.155G>T||155|||||rs736951||-1||||||||||||Ensembl||C|C||||chr22:g.27322744C>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA|2/4||ENST00000790896.1:n.158G>T||158|||||rs736951||-1||||||||||||Ensembl||C|C||||chr22:g.27322744C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs736951|575|-1||||||||||||Ensembl||C|C||||chr22:g.27322744C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836459|lncRNA||||||||||rs736951|4206|-1||||||||||||Ensembl||C|C||||chr22:g.27322744C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000223726|Transcript|ENST00000836460|lncRNA||||||||||rs736951|4221|-1||||||||||||Ensembl||C|C||||chr22:g.27322744C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LINC02554|100507657|Transcript|NR_134581.1|lncRNA||||||||||rs736951|4904|1||EntrezGene|HGNC:53594|||||||||RefSeq||C|C||||chr22:g.27322744C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs736951|523|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27322744C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000454387,ENST00000665304,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000836459,ENST00000836460,NR_134581.1,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000223726,ENSG00000226741,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000223726,ENSG00000223726,100507657,105372979;VEP_SYMBOL=.,LINC02554,.,.,.,.,.,.,LINC02554,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28872;gnomADv4_1_AC_joint_XX=14885;gnomADv4_1_AC_joint_XY=13987;gnomADv4_1_AF_grpmax_joint=0.227891;gnomADv4_1_AF_joint=0.189665;gnomADv4_1_AF_joint_XX=0.191344;gnomADv4_1_AF_joint_XY=0.187911;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152226;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2741;gnomADv4_1_nhomalt_joint_XX=1416;gnomADv4_1_nhomalt_joint_XY=1325;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27324676 chr22_27324676_G_A G A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=3.775;CADD_Rawscore=0.345296;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||2/5|ENST00000790894.1:n.148-1855C>T|||||||rs9608598||-1||||||||||||Ensembl||G|G||||chr22:g.27324676G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||1/4|ENST00000790895.1:n.78-1855C>T|||||||rs9608598||-1||||||||||||Ensembl||G|G||||chr22:g.27324676G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||1/3|ENST00000790896.1:n.81-1855C>T|||||||rs9608598||-1||||||||||||Ensembl||G|G||||chr22:g.27324676G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs9608598|2507|-1||||||||||||Ensembl||G|G||||chr22:g.27324676G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs9608598|3327|-1||||||||||||Ensembl||G|G||||chr22:g.27324676G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs9608598|2455|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27324676G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000790898,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,105372979;VEP_SYMBOL=.,.,.,.,.,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=23625;gnomADv4_1_AC_joint_XX=11631;gnomADv4_1_AC_joint_XY=11994;gnomADv4_1_AF_grpmax_joint=0.242036;gnomADv4_1_AF_joint=0.15533;gnomADv4_1_AF_joint_XX=0.149629;gnomADv4_1_AF_joint_XY=0.161288;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1963;gnomADv4_1_nhomalt_joint_XX=925;gnomADv4_1_nhomalt_joint_XY=1038;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27324866 chr22_27324866_C_T C T 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=5.458;CADD_Rawscore=0.499492;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||2/5|ENST00000790894.1:n.148-2045G>A|||||||rs483967||-1||||||||||||Ensembl||C|C||||chr22:g.27324866C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||1/4|ENST00000790895.1:n.78-2045G>A|||||||rs483967||-1||||||||||||Ensembl||C|C||||chr22:g.27324866C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||1/3|ENST00000790896.1:n.81-2045G>A|||||||rs483967||-1||||||||||||Ensembl||C|C||||chr22:g.27324866C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs483967|2697|-1||||||||||||Ensembl||C|C||||chr22:g.27324866C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs483967|3137|-1||||||||||||Ensembl||C|C||||chr22:g.27324866C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs483967|2645|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27324866C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000790898,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,105372979;VEP_SYMBOL=.,.,.,.,.,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=46941;gnomADv4_1_AC_joint_XX=24227;gnomADv4_1_AC_joint_XY=22714;gnomADv4_1_AF_grpmax_joint=0.432291;gnomADv4_1_AF_joint=0.314235;gnomADv4_1_AF_joint_XX=0.317273;gnomADv4_1_AF_joint_XY=0.311057;gnomADv4_1_AN_grpmax_joint=41014;gnomADv4_1_AN_joint=149382;gnomADv4_1_AN_joint_XX=76360;gnomADv4_1_AN_joint_XY=73022;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8112;gnomADv4_1_nhomalt_joint_XX=4194;gnomADv4_1_nhomalt_joint_XY=3918;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27324890 chr22_27324890_T_TGATA T TGATA 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADDIndel_PHREDscore=5.195;CADDIndel_Rawscore=0.474211;CSQ=GATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||2/5|ENST00000790894.1:n.148-2070_148-2069insTATC|||||||rs111604010||-1||||||||||||Ensembl|||||||chr22:g.27324893_27324894insAGAT|||||||||||||,GATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||1/4|ENST00000790895.1:n.78-2070_78-2069insTATC|||||||rs111604010||-1||||||||||||Ensembl|||||||chr22:g.27324893_27324894insAGAT|||||||||||||,GATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||1/3|ENST00000790896.1:n.81-2070_81-2069insTATC|||||||rs111604010||-1||||||||||||Ensembl|||||||chr22:g.27324893_27324894insAGAT|||||||||||||,GATA|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs111604010|2721|-1||||||||||||Ensembl|||||||chr22:g.27324893_27324894insAGAT|||||||||||||,GATA|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs111604010|3112|-1||||||||||||Ensembl|||||||chr22:g.27324893_27324894insAGAT|||||||||||||,GATA|upstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs111604010|2669|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27324893_27324894insAGAT|||||||||||||;TYPE=INDEL;VEP_Allele=GATA,GATA,GATA,GATA,GATA,GATA;VEP_Feature=ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000790898,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,105372979;VEP_SYMBOL=.,.,.,.,.,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=46859;gnomADv4_1_AC_joint_XX=24185;gnomADv4_1_AC_joint_XY=22674;gnomADv4_1_AF_grpmax_joint=0.431639;gnomADv4_1_AF_joint=0.313707;gnomADv4_1_AF_joint_XX=0.31679;gnomADv4_1_AF_joint_XY=0.310484;gnomADv4_1_AN_grpmax_joint=41032;gnomADv4_1_AN_joint=149372;gnomADv4_1_AN_joint_XX=76344;gnomADv4_1_AN_joint_XY=73028;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8086;gnomADv4_1_nhomalt_joint_XX=4180;gnomADv4_1_nhomalt_joint_XY=3906;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27324904 chr22_27324904_G_GTGGA G GTGGA 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.202;CADDIndel_Rawscore=-0.424138;CSQ=TGGA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||2/5|ENST00000790894.1:n.148-2087_148-2084dup|||||||rs61303707||-1||||||||||||Ensembl|||||||chr22:g.27324914_27324917dup|||||||||||||,TGGA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||1/4|ENST00000790895.1:n.78-2087_78-2084dup|||||||rs61303707||-1||||||||||||Ensembl|||||||chr22:g.27324914_27324917dup|||||||||||||,TGGA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||1/3|ENST00000790896.1:n.81-2087_81-2084dup|||||||rs61303707||-1||||||||||||Ensembl|||||||chr22:g.27324914_27324917dup|||||||||||||,TGGA|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs61303707|2735|-1||||||||||||Ensembl|||||||chr22:g.27324914_27324917dup|||||||||||||,TGGA|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs61303707|3098|-1||||||||||||Ensembl|||||||chr22:g.27324914_27324917dup|||||||||||||,TGGA|upstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs61303707|2683|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27324914_27324917dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGGA,TGGA,TGGA,TGGA,TGGA,TGGA;VEP_Feature=ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000790898,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,105372979;VEP_SYMBOL=.,.,.,.,.,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=44681;gnomADv4_1_AC_joint_XX=23146;gnomADv4_1_AC_joint_XY=21535;gnomADv4_1_AF_grpmax_joint=0.418183;gnomADv4_1_AF_joint=0.29921;gnomADv4_1_AF_joint_XX=0.30322;gnomADv4_1_AF_joint_XY=0.295016;gnomADv4_1_AN_grpmax_joint=40994;gnomADv4_1_AN_joint=149330;gnomADv4_1_AN_joint_XX=76334;gnomADv4_1_AN_joint_XY=72996;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7390;gnomADv4_1_nhomalt_joint_XX=3854;gnomADv4_1_nhomalt_joint_XY=3536;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27325013 chr22_27325013_TGGAA_T TGGAA T 10 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=10;CADDIndel_PHREDscore=1.505;CADDIndel_Rawscore=0.088957;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||2/5|ENST00000790894.1:n.148-2196_148-2193del|||||||rs58235688||-1||||||||||||Ensembl||GGAA|GGAA||||chr22:g.27325017_27325020del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||1/4|ENST00000790895.1:n.78-2196_78-2193del|||||||rs58235688||-1||||||||||||Ensembl||GGAA|GGAA||||chr22:g.27325017_27325020del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||1/3|ENST00000790896.1:n.81-2196_81-2193del|||||||rs58235688||-1||||||||||||Ensembl||GGAA|GGAA||||chr22:g.27325017_27325020del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs58235688|2845|-1||||||||||||Ensembl||GGAA|GGAA||||chr22:g.27325017_27325020del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs58235688|2986|-1||||||||||||Ensembl||GGAA|GGAA||||chr22:g.27325017_27325020del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs58235688|2793|-1||EntrezGene||||||||||RefSeq||GGAA|GGAA||||chr22:g.27325017_27325020del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000790898,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,105372979;VEP_SYMBOL=.,.,.,.,.,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=35787;gnomADv4_1_AC_joint_XX=18452;gnomADv4_1_AC_joint_XY=17335;gnomADv4_1_AF_grpmax_joint=0.588952;gnomADv4_1_AF_joint=0.506941;gnomADv4_1_AF_joint_XX=0.506673;gnomADv4_1_AF_joint_XY=0.507227;gnomADv4_1_AN_grpmax_joint=17144;gnomADv4_1_AN_joint=70594;gnomADv4_1_AN_joint_XX=36418;gnomADv4_1_AN_joint_XY=34176;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7737;gnomADv4_1_nhomalt_joint_XX=3921;gnomADv4_1_nhomalt_joint_XY=3816;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27325079 chr22_27325079_T_TTGGA T TTGGA 28 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=.;AF_XY=0.5;AN=4;AN_XX=0;AN_XY=4;AQ=28;CADDIndel_PHREDscore=0.65;CADDIndel_Rawscore=-0.127405;CSQ=TGGA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||2/5|ENST00000790894.1:n.148-2262_148-2259dup|||||||rs146751083||-1||||||||||||Ensembl|||||||chr22:g.27325097_27325100dup|||||||||||||,TGGA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||1/4|ENST00000790895.1:n.78-2262_78-2259dup|||||||rs146751083||-1||||||||||||Ensembl|||||||chr22:g.27325097_27325100dup|||||||||||||,TGGA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||1/3|ENST00000790896.1:n.81-2262_81-2259dup|||||||rs146751083||-1||||||||||||Ensembl|||||||chr22:g.27325097_27325100dup|||||||||||||,TGGA|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs146751083|2910|-1||||||||||||Ensembl|||||||chr22:g.27325097_27325100dup|||||||||||||,TGGA|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs146751083|2923|-1||||||||||||Ensembl|||||||chr22:g.27325097_27325100dup|||||||||||||,TGGA|upstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs146751083|2858|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27325097_27325100dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGGA,TGGA,TGGA,TGGA,TGGA,TGGA;VEP_Feature=ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000790898,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,105372979;VEP_SYMBOL=.,.,.,.,.,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=4027;gnomADv4_1_AC_joint_XX=2162;gnomADv4_1_AC_joint_XY=1865;gnomADv4_1_AF_grpmax_joint=0.135135;gnomADv4_1_AF_joint=0.0635113;gnomADv4_1_AF_joint_XX=0.065262;gnomADv4_1_AF_joint_XY=0.0615959;gnomADv4_1_AN_grpmax_joint=74;gnomADv4_1_AN_joint=63406;gnomADv4_1_AN_joint_XX=33128;gnomADv4_1_AN_joint_XY=30278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=657;gnomADv4_1_nhomalt_joint_XX=340;gnomADv4_1_nhomalt_joint_XY=317;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27325135 chr22_27325135_T_TTGGA T TTGGA 16 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=16;CADDIndel_PHREDscore=1.805;CADDIndel_Rawscore=0.136809;CSQ=TGGA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||2/5|ENST00000790894.1:n.148-2318_148-2315dup|||||||rs1197869160||-1||||||||||||Ensembl|||||||chr22:g.27325173_27325176dup|||||||||||||,TGGA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||1/4|ENST00000790895.1:n.78-2318_78-2315dup|||||||rs1197869160||-1||||||||||||Ensembl|||||||chr22:g.27325173_27325176dup|||||||||||||,TGGA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||1/3|ENST00000790896.1:n.81-2318_81-2315dup|||||||rs1197869160||-1||||||||||||Ensembl|||||||chr22:g.27325173_27325176dup|||||||||||||,TGGA|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs1197869160|2966|-1||||||||||||Ensembl|||||||chr22:g.27325173_27325176dup|||||||||||||,TGGA|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs1197869160|2867|-1||||||||||||Ensembl|||||||chr22:g.27325173_27325176dup|||||||||||||,TGGA|upstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs1197869160|2914|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27325173_27325176dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGGA,TGGA,TGGA,TGGA,TGGA,TGGA;VEP_Feature=ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000790898,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,105372979;VEP_SYMBOL=.,.,.,.,.,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=5709;gnomADv4_1_AC_joint_XX=2940;gnomADv4_1_AC_joint_XY=2769;gnomADv4_1_AF_grpmax_joint=0.375;gnomADv4_1_AF_joint=0.125871;gnomADv4_1_AF_joint_XX=0.12404;gnomADv4_1_AF_joint_XY=0.127875;gnomADv4_1_AN_grpmax_joint=1392;gnomADv4_1_AN_joint=45356;gnomADv4_1_AN_joint_XX=23702;gnomADv4_1_AN_joint_XY=21654;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=810;gnomADv4_1_nhomalt_joint_XX=382;gnomADv4_1_nhomalt_joint_XY=428;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27326053 chr22_27326053_C_G C G 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.569;CADD_Rawscore=-0.16091;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||2/5|ENST00000790894.1:n.147+2032G>C|||||||rs490925||-1||||||||||||Ensembl||C|C||||chr22:g.27326053C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||1/4|ENST00000790895.1:n.78-3232G>C|||||||rs490925||-1||||||||||||Ensembl||C|C||||chr22:g.27326053C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||1/3|ENST00000790896.1:n.81-3232G>C|||||||rs490925||-1||||||||||||Ensembl||C|C||||chr22:g.27326053C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs490925|3884|-1||||||||||||Ensembl||C|C||||chr22:g.27326053C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs490925|1950|-1||||||||||||Ensembl||C|C||||chr22:g.27326053C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs490925|3832|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27326053C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000790898,XR_938121.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,105372979;VEP_SYMBOL=.,.,.,.,.,LOC105372979;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=46726;gnomADv4_1_AC_joint_XX=24199;gnomADv4_1_AC_joint_XY=22527;gnomADv4_1_AF_grpmax_joint=0.432037;gnomADv4_1_AF_joint=0.307024;gnomADv4_1_AF_joint_XX=0.311049;gnomADv4_1_AF_joint_XY=0.302815;gnomADv4_1_AN_grpmax_joint=41508;gnomADv4_1_AN_joint=152190;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7727;gnomADv4_1_nhomalt_joint_XX=4025;gnomADv4_1_nhomalt_joint_XY=3702;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27326841 chr22_27326841_G_A G A 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.047;CADD_Rawscore=-0.005823;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs1997645|4946|1||||4||||||||Ensembl||G|G||||chr22:g.27326841G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs1997645|4793|1||||||||||||Ensembl||G|G||||chr22:g.27326841G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs1997645|4804|1||||||||||||Ensembl||G|G||||chr22:g.27326841G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs1997645|4782|1||||||||||||Ensembl||G|G||||chr22:g.27326841G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs1997645|4775|1||||||||||||Ensembl||G|G||||chr22:g.27326841G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs1997645|4946|1||||||||||||Ensembl||G|G||||chr22:g.27326841G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs1997645|4947|1||||||||||||Ensembl||G|G||||chr22:g.27326841G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs1997645|4806|1||||||||||||Ensembl||G|G||||chr22:g.27326841G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs1997645|4946|1||||||||||||Ensembl||G|G||||chr22:g.27326841G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||2/5|ENST00000790894.1:n.147+1244C>T|||||||rs1997645||-1||||||||||||Ensembl||G|G||||chr22:g.27326841G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||1/4|ENST00000790895.1:n.77+2452C>T|||||||rs1997645||-1||||||||||||Ensembl||G|G||||chr22:g.27326841G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||1/3|ENST00000790896.1:n.80+2452C>T|||||||rs1997645||-1||||||||||||Ensembl||G|G||||chr22:g.27326841G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs1997645|4672|-1||||||||||||Ensembl||G|G||||chr22:g.27326841G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs1997645|1162|-1||||||||||||Ensembl||G|G||||chr22:g.27326841G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs1997645|4499|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27326841G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs1997645|4620|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27326841G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs1997645|4499|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27326841G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000790898,XR_430432.4,XR_938121.2,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,105372979,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC105372979,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28041;gnomADv4_1_AC_joint_XX=14479;gnomADv4_1_AC_joint_XY=13562;gnomADv4_1_AF_grpmax_joint=0.231293;gnomADv4_1_AF_joint=0.18506;gnomADv4_1_AF_joint_XX=0.186845;gnomADv4_1_AF_joint_XY=0.183191;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151524;gnomADv4_1_AN_joint_XX=77492;gnomADv4_1_AN_joint_XY=74032;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2554;gnomADv4_1_nhomalt_joint_XX=1320;gnomADv4_1_nhomalt_joint_XY=1234;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27327089 chr22_27327089_C_G C G 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.618;CADD_Rawscore=-0.140346;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs570286|4698|1||||4||||||||Ensembl||C|C||||chr22:g.27327089C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs570286|4545|1||||||||||||Ensembl||C|C||||chr22:g.27327089C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs570286|4556|1||||||||||||Ensembl||C|C||||chr22:g.27327089C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs570286|4534|1||||||||||||Ensembl||C|C||||chr22:g.27327089C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs570286|4527|1||||||||||||Ensembl||C|C||||chr22:g.27327089C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs570286|4698|1||||||||||||Ensembl||C|C||||chr22:g.27327089C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs570286|4699|1||||||||||||Ensembl||C|C||||chr22:g.27327089C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs570286|4558|1||||||||||||Ensembl||C|C||||chr22:g.27327089C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs570286|4698|1||||||||||||Ensembl||C|C||||chr22:g.27327089C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||2/5|ENST00000790894.1:n.147+996G>C|||||||rs570286||-1||||||||||||Ensembl||C|C||||chr22:g.27327089C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||1/4|ENST00000790895.1:n.77+2204G>C|||||||rs570286||-1||||||||||||Ensembl||C|C||||chr22:g.27327089C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||1/3|ENST00000790896.1:n.80+2204G>C|||||||rs570286||-1||||||||||||Ensembl||C|C||||chr22:g.27327089C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs570286|4920|-1||||||||||||Ensembl||C|C||||chr22:g.27327089C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs570286|914|-1||||||||||||Ensembl||C|C||||chr22:g.27327089C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs570286|4251|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27327089C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs570286|4868|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27327089C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs570286|4251|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27327089C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000790898,XR_430432.4,XR_938121.2,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,105372979,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC105372979,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46591;gnomADv4_1_AC_joint_XX=24130;gnomADv4_1_AC_joint_XY=22461;gnomADv4_1_AF_grpmax_joint=0.431582;gnomADv4_1_AF_joint=0.306705;gnomADv4_1_AF_joint_XX=0.310777;gnomADv4_1_AF_joint_XY=0.302448;gnomADv4_1_AN_grpmax_joint=41378;gnomADv4_1_AN_joint=151908;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7687;gnomADv4_1_nhomalt_joint_XX=4003;gnomADv4_1_nhomalt_joint_XY=3684;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27327098 chr22_27327098_T_C T C 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.612;CADD_Rawscore=0.235705;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs55828945|4689|1||||4||||||||Ensembl||T|T||||chr22:g.27327098T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs55828945|4536|1||||||||||||Ensembl||T|T||||chr22:g.27327098T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs55828945|4547|1||||||||||||Ensembl||T|T||||chr22:g.27327098T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs55828945|4525|1||||||||||||Ensembl||T|T||||chr22:g.27327098T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs55828945|4518|1||||||||||||Ensembl||T|T||||chr22:g.27327098T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs55828945|4689|1||||||||||||Ensembl||T|T||||chr22:g.27327098T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs55828945|4690|1||||||||||||Ensembl||T|T||||chr22:g.27327098T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs55828945|4549|1||||||||||||Ensembl||T|T||||chr22:g.27327098T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs55828945|4689|1||||||||||||Ensembl||T|T||||chr22:g.27327098T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||2/5|ENST00000790894.1:n.147+987A>G|||||||rs55828945||-1||||||||||||Ensembl||T|T||||chr22:g.27327098T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||1/4|ENST00000790895.1:n.77+2195A>G|||||||rs55828945||-1||||||||||||Ensembl||T|T||||chr22:g.27327098T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||1/3|ENST00000790896.1:n.80+2195A>G|||||||rs55828945||-1||||||||||||Ensembl||T|T||||chr22:g.27327098T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790897|lncRNA||||||||||rs55828945|4929|-1||||||||||||Ensembl||T|T||||chr22:g.27327098T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs55828945|905|-1||||||||||||Ensembl||T|T||||chr22:g.27327098T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs55828945|4242|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27327098T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC105372979|105372979|Transcript|XR_938121.2|lncRNA||||||||||rs55828945|4877|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27327098T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs55828945|4242|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27327098T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790897,ENST00000790898,XR_430432.4,XR_938121.2,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,105372979,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC105372979,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11201;gnomADv4_1_AC_joint_XX=5333;gnomADv4_1_AC_joint_XY=5868;gnomADv4_1_AF_grpmax_joint=0.215564;gnomADv4_1_AF_joint=0.0736617;gnomADv4_1_AF_joint_XX=0.0686164;gnomADv4_1_AF_joint_XY=0.0789367;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=152060;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=591;gnomADv4_1_nhomalt_joint_XX=259;gnomADv4_1_nhomalt_joint_XY=332;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27327463 chr22_27327463_T_C T C 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.105;CADD_Rawscore=-0.598296;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs9613423|4324|1||||4||||||||Ensembl||T|T||||chr22:g.27327463T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs9613423|4171|1||||||||||||Ensembl||T|T||||chr22:g.27327463T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs9613423|4182|1||||||||||||Ensembl||T|T||||chr22:g.27327463T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs9613423|4160|1||||||||||||Ensembl||T|T||||chr22:g.27327463T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs9613423|4153|1||||||||||||Ensembl||T|T||||chr22:g.27327463T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs9613423|4324|1||||||||||||Ensembl||T|T||||chr22:g.27327463T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs9613423|4325|1||||||||||||Ensembl||T|T||||chr22:g.27327463T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs9613423|4184|1||||||||||||Ensembl||T|T||||chr22:g.27327463T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs9613423|4324|1||||||||||||Ensembl||T|T||||chr22:g.27327463T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||2/5|ENST00000790894.1:n.147+622A>G|||||||rs9613423||-1||||||||||||Ensembl||T|T||||chr22:g.27327463T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||1/4|ENST00000790895.1:n.77+1830A>G|||||||rs9613423||-1||||||||||||Ensembl||T|T||||chr22:g.27327463T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||1/3|ENST00000790896.1:n.80+1830A>G|||||||rs9613423||-1||||||||||||Ensembl||T|T||||chr22:g.27327463T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs9613423|540|-1||||||||||||Ensembl||T|T||||chr22:g.27327463T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs9613423|3877|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27327463T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs9613423|3877|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27327463T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28907;gnomADv4_1_AC_joint_XX=14902;gnomADv4_1_AC_joint_XY=14005;gnomADv4_1_AF_grpmax_joint=0.231293;gnomADv4_1_AF_joint=0.190278;gnomADv4_1_AF_joint_XX=0.191868;gnomADv4_1_AF_joint_XY=0.188614;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2741;gnomADv4_1_nhomalt_joint_XX=1418;gnomADv4_1_nhomalt_joint_XY=1323;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27327639 chr22_27327639_G_A G A 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.761;CADD_Rawscore=0.130378;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs9613424|4148|1||||4||||||||Ensembl||G|G||||chr22:g.27327639G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs9613424|3995|1||||||||||||Ensembl||G|G||||chr22:g.27327639G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs9613424|4006|1||||||||||||Ensembl||G|G||||chr22:g.27327639G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs9613424|3984|1||||||||||||Ensembl||G|G||||chr22:g.27327639G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs9613424|3977|1||||||||||||Ensembl||G|G||||chr22:g.27327639G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs9613424|4148|1||||||||||||Ensembl||G|G||||chr22:g.27327639G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs9613424|4149|1||||||||||||Ensembl||G|G||||chr22:g.27327639G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs9613424|4008|1||||||||||||Ensembl||G|G||||chr22:g.27327639G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs9613424|4148|1||||||||||||Ensembl||G|G||||chr22:g.27327639G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||2/5|ENST00000790894.1:n.147+446C>T|||||||rs9613424||-1||||||||||||Ensembl||G|G||||chr22:g.27327639G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||1/4|ENST00000790895.1:n.77+1654C>T|||||||rs9613424||-1||||||||||||Ensembl||G|G||||chr22:g.27327639G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||1/3|ENST00000790896.1:n.80+1654C>T|||||||rs9613424||-1||||||||||||Ensembl||G|G||||chr22:g.27327639G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs9613424|364|-1||||||||||||Ensembl||G|G||||chr22:g.27327639G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs9613424|3701|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27327639G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs9613424|3701|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27327639G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28677;gnomADv4_1_AC_joint_XX=14783;gnomADv4_1_AC_joint_XY=13894;gnomADv4_1_AF_grpmax_joint=0.231293;gnomADv4_1_AF_joint=0.188501;gnomADv4_1_AF_joint_XX=0.19013;gnomADv4_1_AF_joint_XY=0.186798;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152132;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2686;gnomADv4_1_nhomalt_joint_XX=1393;gnomADv4_1_nhomalt_joint_XY=1293;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27328735 chr22_27328735_C_T C T 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.087;CADD_Rawscore=-0.647768;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs8135866|3052|1||||4||||||||Ensembl||C|C||||chr22:g.27328735C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs8135866|2899|1||||||||||||Ensembl||C|C||||chr22:g.27328735C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs8135866|2910|1||||||||||||Ensembl||C|C||||chr22:g.27328735C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs8135866|2888|1||||||||||||Ensembl||C|C||||chr22:g.27328735C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs8135866|2881|1||||||||||||Ensembl||C|C||||chr22:g.27328735C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs8135866|3052|1||||||||||||Ensembl||C|C||||chr22:g.27328735C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs8135866|3053|1||||||||||||Ensembl||C|C||||chr22:g.27328735C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs8135866|2912|1||||||||||||Ensembl||C|C||||chr22:g.27328735C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs8135866|3052|1||||||||||||Ensembl||C|C||||chr22:g.27328735C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||1/5|ENST00000790894.1:n.56+558G>A|||||||rs8135866||-1||||||||||||Ensembl||C|C||||chr22:g.27328735C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||1/4|ENST00000790895.1:n.77+558G>A|||||||rs8135866||-1||||||||||||Ensembl||C|C||||chr22:g.27328735C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||1/3|ENST00000790896.1:n.80+558G>A|||||||rs8135866||-1||||||||||||Ensembl||C|C||||chr22:g.27328735C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||1/1|ENST00000790898.1:n.80+558G>A|||||||rs8135866||-1||||||||||||Ensembl||C|C||||chr22:g.27328735C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs8135866|2605|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27328735C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs8135866|2605|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27328735C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28551;gnomADv4_1_AC_joint_XX=14707;gnomADv4_1_AC_joint_XY=13844;gnomADv4_1_AF_grpmax_joint=0.231293;gnomADv4_1_AF_joint=0.187833;gnomADv4_1_AF_joint_XX=0.189294;gnomADv4_1_AF_joint_XY=0.186306;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152002;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2668;gnomADv4_1_nhomalt_joint_XX=1380;gnomADv4_1_nhomalt_joint_XY=1288;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27328821 chr22_27328821_T_C T C 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.68;CADD_Rawscore=-0.116319;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs8139966|2966|1||||4||||||||Ensembl||T|T||||chr22:g.27328821T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs8139966|2813|1||||||||||||Ensembl||T|T||||chr22:g.27328821T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs8139966|2824|1||||||||||||Ensembl||T|T||||chr22:g.27328821T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs8139966|2802|1||||||||||||Ensembl||T|T||||chr22:g.27328821T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs8139966|2795|1||||||||||||Ensembl||T|T||||chr22:g.27328821T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs8139966|2966|1||||||||||||Ensembl||T|T||||chr22:g.27328821T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs8139966|2967|1||||||||||||Ensembl||T|T||||chr22:g.27328821T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs8139966|2826|1||||||||||||Ensembl||T|T||||chr22:g.27328821T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs8139966|2966|1||||||||||||Ensembl||T|T||||chr22:g.27328821T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||1/5|ENST00000790894.1:n.56+472A>G|||||||rs8139966||-1||||||||||||Ensembl||T|T||||chr22:g.27328821T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||1/4|ENST00000790895.1:n.77+472A>G|||||||rs8139966||-1||||||||||||Ensembl||T|T||||chr22:g.27328821T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||1/3|ENST00000790896.1:n.80+472A>G|||||||rs8139966||-1||||||||||||Ensembl||T|T||||chr22:g.27328821T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||1/1|ENST00000790898.1:n.80+472A>G|||||||rs8139966||-1||||||||||||Ensembl||T|T||||chr22:g.27328821T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs8139966|2519|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27328821T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs8139966|2519|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27328821T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28451;gnomADv4_1_AC_joint_XX=14671;gnomADv4_1_AC_joint_XY=13780;gnomADv4_1_AF_grpmax_joint=0.231293;gnomADv4_1_AF_joint=0.187163;gnomADv4_1_AF_joint_XX=0.188763;gnomADv4_1_AF_joint_XY=0.185489;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2658;gnomADv4_1_nhomalt_joint_XX=1375;gnomADv4_1_nhomalt_joint_XY=1283;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27329192 chr22_27329192_A_G A G 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.843;CADD_Rawscore=0.142268;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs8137063|2595|1||||4||||||||Ensembl||A|A||||chr22:g.27329192A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs8137063|2442|1||||||||||||Ensembl||A|A||||chr22:g.27329192A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs8137063|2453|1||||||||||||Ensembl||A|A||||chr22:g.27329192A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs8137063|2431|1||||||||||||Ensembl||A|A||||chr22:g.27329192A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs8137063|2424|1||||||||||||Ensembl||A|A||||chr22:g.27329192A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs8137063|2595|1||||||||||||Ensembl||A|A||||chr22:g.27329192A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs8137063|2596|1||||||||||||Ensembl||A|A||||chr22:g.27329192A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs8137063|2455|1||||||||||||Ensembl||A|A||||chr22:g.27329192A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs8137063|2595|1||||||||||||Ensembl||A|A||||chr22:g.27329192A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||1/5|ENST00000790894.1:n.56+101T>C|||||||rs8137063||-1||||||||||||Ensembl||A|A||||chr22:g.27329192A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||1/4|ENST00000790895.1:n.77+101T>C|||||||rs8137063||-1||||||||||||Ensembl||A|A||||chr22:g.27329192A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||1/3|ENST00000790896.1:n.80+101T>C|||||||rs8137063||-1||||||||||||Ensembl||A|A||||chr22:g.27329192A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||1/1|ENST00000790898.1:n.80+101T>C|||||||rs8137063||-1||||||||||||Ensembl||A|A||||chr22:g.27329192A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs8137063|2148|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27329192A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs8137063|2148|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27329192A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28403;gnomADv4_1_AC_joint_XX=14671;gnomADv4_1_AC_joint_XY=13732;gnomADv4_1_AF_grpmax_joint=0.231293;gnomADv4_1_AF_joint=0.18712;gnomADv4_1_AF_joint_XX=0.188996;gnomADv4_1_AF_joint_XY=0.185157;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151790;gnomADv4_1_AN_joint_XX=77626;gnomADv4_1_AN_joint_XY=74164;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2659;gnomADv4_1_nhomalt_joint_XX=1380;gnomADv4_1_nhomalt_joint_XY=1279;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27329272 chr22_27329272_T_C T C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.627;CADD_Rawscore=-0.136433;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs498513|2515|1||||4||||||||Ensembl||T|T||||chr22:g.27329272T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs498513|2362|1||||||||||||Ensembl||T|T||||chr22:g.27329272T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs498513|2373|1||||||||||||Ensembl||T|T||||chr22:g.27329272T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs498513|2351|1||||||||||||Ensembl||T|T||||chr22:g.27329272T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs498513|2344|1||||||||||||Ensembl||T|T||||chr22:g.27329272T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs498513|2515|1||||||||||||Ensembl||T|T||||chr22:g.27329272T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs498513|2516|1||||||||||||Ensembl||T|T||||chr22:g.27329272T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs498513|2375|1||||||||||||Ensembl||T|T||||chr22:g.27329272T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs498513|2515|1||||||||||||Ensembl||T|T||||chr22:g.27329272T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||1/5|ENST00000790894.1:n.56+21A>G|||||||rs498513||-1||||||||||||Ensembl||T|T||||chr22:g.27329272T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||1/4|ENST00000790895.1:n.77+21A>G|||||||rs498513||-1||||||||||||Ensembl||T|T||||chr22:g.27329272T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||1/3|ENST00000790896.1:n.80+21A>G|||||||rs498513||-1||||||||||||Ensembl||T|T||||chr22:g.27329272T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||1/1|ENST00000790898.1:n.80+21A>G|||||||rs498513||-1||||||||||||Ensembl||T|T||||chr22:g.27329272T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs498513|2068|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27329272T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs498513|2068|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27329272T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44920;gnomADv4_1_AC_joint_XX=23258;gnomADv4_1_AC_joint_XY=21662;gnomADv4_1_AF_grpmax_joint=0.50082;gnomADv4_1_AF_joint=0.370389;gnomADv4_1_AF_joint_XX=0.364157;gnomADv4_1_AF_joint_XY=0.377321;gnomADv4_1_AN_grpmax_joint=34162;gnomADv4_1_AN_joint=121278;gnomADv4_1_AN_joint_XX=63868;gnomADv4_1_AN_joint_XY=57410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7565;gnomADv4_1_nhomalt_joint_XX=3919;gnomADv4_1_nhomalt_joint_XY=3646;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27329801 chr22_27329801_A_G A G 34 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=2.206;CADD_Rawscore=0.190025;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs16984292|1986|1||||4||||||||Ensembl||A|A||||chr22:g.27329801A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs16984292|1833|1||||||||||||Ensembl||A|A||||chr22:g.27329801A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs16984292|1844|1||||||||||||Ensembl||A|A||||chr22:g.27329801A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs16984292|1822|1||||||||||||Ensembl||A|A||||chr22:g.27329801A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs16984292|1815|1||||||||||||Ensembl||A|A||||chr22:g.27329801A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs16984292|1986|1||||||||||||Ensembl||A|A||||chr22:g.27329801A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs16984292|1987|1||||||||||||Ensembl||A|A||||chr22:g.27329801A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs16984292|1846|1||||||||||||Ensembl||A|A||||chr22:g.27329801A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs16984292|1986|1||||||||||||Ensembl||A|A||||chr22:g.27329801A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs16984292|453|-1||||||||||||Ensembl||A|A||||chr22:g.27329801A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs16984292|432|-1||||||||||||Ensembl||A|A||||chr22:g.27329801A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs16984292|429|-1||||||||||||Ensembl||A|A||||chr22:g.27329801A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs16984292|429|-1||||||||||||Ensembl||A|A||||chr22:g.27329801A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs16984292|1539|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27329801A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs16984292|1539|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27329801A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21481;gnomADv4_1_AC_joint_XX=10536;gnomADv4_1_AC_joint_XY=10945;gnomADv4_1_AF_grpmax_joint=0.244303;gnomADv4_1_AF_joint=0.141098;gnomADv4_1_AF_joint_XX=0.135393;gnomADv4_1_AF_joint_XY=0.147063;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152242;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1646;gnomADv4_1_nhomalt_joint_XX=775;gnomADv4_1_nhomalt_joint_XY=871;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27330110 chr22_27330110_A_G A G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.083;CADD_Rawscore=-0.662213;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs479229|1677|1||||4||||||||Ensembl||A|A||||chr22:g.27330110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs479229|1524|1||||||||||||Ensembl||A|A||||chr22:g.27330110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs479229|1535|1||||||||||||Ensembl||A|A||||chr22:g.27330110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs479229|1513|1||||||||||||Ensembl||A|A||||chr22:g.27330110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs479229|1506|1||||||||||||Ensembl||A|A||||chr22:g.27330110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs479229|1677|1||||||||||||Ensembl||A|A||||chr22:g.27330110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs479229|1678|1||||||||||||Ensembl||A|A||||chr22:g.27330110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs479229|1537|1||||||||||||Ensembl||A|A||||chr22:g.27330110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs479229|1677|1||||||||||||Ensembl||A|A||||chr22:g.27330110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs479229|762|-1||||||||||||Ensembl||A|A||||chr22:g.27330110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs479229|741|-1||||||||||||Ensembl||A|A||||chr22:g.27330110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs479229|738|-1||||||||||||Ensembl||A|A||||chr22:g.27330110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs479229|738|-1||||||||||||Ensembl||A|A||||chr22:g.27330110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs479229|1230|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27330110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs479229|1230|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27330110A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46982;gnomADv4_1_AC_joint_XX=24152;gnomADv4_1_AC_joint_XY=22830;gnomADv4_1_AF_grpmax_joint=0.436158;gnomADv4_1_AF_joint=0.308881;gnomADv4_1_AF_joint_XX=0.310693;gnomADv4_1_AF_joint_XY=0.306987;gnomADv4_1_AN_grpmax_joint=41462;gnomADv4_1_AN_joint=152104;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7918;gnomADv4_1_nhomalt_joint_XX=4073;gnomADv4_1_nhomalt_joint_XY=3845;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27330205 chr22_27330205_G_A G A 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.415;CADD_Rawscore=-0.240077;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs567774|1582|1||||4||||||||Ensembl||G|G||||chr22:g.27330205G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs567774|1429|1||||||||||||Ensembl||G|G||||chr22:g.27330205G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs567774|1440|1||||||||||||Ensembl||G|G||||chr22:g.27330205G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs567774|1418|1||||||||||||Ensembl||G|G||||chr22:g.27330205G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs567774|1411|1||||||||||||Ensembl||G|G||||chr22:g.27330205G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs567774|1582|1||||||||||||Ensembl||G|G||||chr22:g.27330205G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs567774|1583|1||||||||||||Ensembl||G|G||||chr22:g.27330205G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs567774|1442|1||||||||||||Ensembl||G|G||||chr22:g.27330205G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs567774|1582|1||||||||||||Ensembl||G|G||||chr22:g.27330205G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs567774|857|-1||||||||||||Ensembl||G|G||||chr22:g.27330205G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs567774|836|-1||||||||||||Ensembl||G|G||||chr22:g.27330205G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs567774|833|-1||||||||||||Ensembl||G|G||||chr22:g.27330205G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs567774|833|-1||||||||||||Ensembl||G|G||||chr22:g.27330205G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs567774|1135|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27330205G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs567774|1135|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27330205G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77941;gnomADv4_1_AC_joint_XX=39537;gnomADv4_1_AC_joint_XY=38404;gnomADv4_1_AF_grpmax_joint=0.744446;gnomADv4_1_AF_joint=0.512513;gnomADv4_1_AF_joint_XX=0.508462;gnomADv4_1_AF_joint_XY=0.516752;gnomADv4_1_AN_grpmax_joint=41498;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=21984;gnomADv4_1_nhomalt_joint_XX=11107;gnomADv4_1_nhomalt_joint_XY=10877;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27330953 chr22_27330953_A_T A T 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.267;CADD_Rawscore=-0.351493;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs2139278|834|1||||4||||||||Ensembl||A|A||||chr22:g.27330953A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs2139278|681|1||||||||||||Ensembl||A|A||||chr22:g.27330953A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs2139278|692|1||||||||||||Ensembl||A|A||||chr22:g.27330953A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs2139278|670|1||||||||||||Ensembl||A|A||||chr22:g.27330953A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs2139278|663|1||||||||||||Ensembl||A|A||||chr22:g.27330953A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs2139278|834|1||||||||||||Ensembl||A|A||||chr22:g.27330953A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs2139278|835|1||||||||||||Ensembl||A|A||||chr22:g.27330953A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs2139278|694|1||||||||||||Ensembl||A|A||||chr22:g.27330953A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs2139278|834|1||||||||||||Ensembl||A|A||||chr22:g.27330953A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs2139278|1605|-1||||||||||||Ensembl||A|A||||chr22:g.27330953A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs2139278|1584|-1||||||||||||Ensembl||A|A||||chr22:g.27330953A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs2139278|1581|-1||||||||||||Ensembl||A|A||||chr22:g.27330953A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs2139278|1581|-1||||||||||||Ensembl||A|A||||chr22:g.27330953A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs2139278|387|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27330953A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs2139278|387|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27330953A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57766;gnomADv4_1_AC_joint_XX=28946;gnomADv4_1_AC_joint_XY=28820;gnomADv4_1_AF_grpmax_joint=0.638685;gnomADv4_1_AF_joint=0.379855;gnomADv4_1_AF_joint_XX=0.372353;gnomADv4_1_AF_joint_XY=0.387699;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11970;gnomADv4_1_nhomalt_joint_XX=5904;gnomADv4_1_nhomalt_joint_XY=6066;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27330986 chr22_27330986_C_T C T 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.135;CADD_Rawscore=-0.530473;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs2176659|801|1||||4||||||||Ensembl||C|C||||chr22:g.27330986C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs2176659|648|1||||||||||||Ensembl||C|C||||chr22:g.27330986C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs2176659|659|1||||||||||||Ensembl||C|C||||chr22:g.27330986C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs2176659|637|1||||||||||||Ensembl||C|C||||chr22:g.27330986C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs2176659|630|1||||||||||||Ensembl||C|C||||chr22:g.27330986C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs2176659|801|1||||||||||||Ensembl||C|C||||chr22:g.27330986C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs2176659|802|1||||||||||||Ensembl||C|C||||chr22:g.27330986C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs2176659|661|1||||||||||||Ensembl||C|C||||chr22:g.27330986C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs2176659|801|1||||||||||||Ensembl||C|C||||chr22:g.27330986C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs2176659|1638|-1||||||||||||Ensembl||C|C||||chr22:g.27330986C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs2176659|1617|-1||||||||||||Ensembl||C|C||||chr22:g.27330986C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs2176659|1614|-1||||||||||||Ensembl||C|C||||chr22:g.27330986C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs2176659|1614|-1||||||||||||Ensembl||C|C||||chr22:g.27330986C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs2176659|354|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27330986C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs2176659|354|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27330986C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31295;gnomADv4_1_AC_joint_XX=15516;gnomADv4_1_AC_joint_XY=15779;gnomADv4_1_AF_grpmax_joint=0.610681;gnomADv4_1_AF_joint=0.205696;gnomADv4_1_AF_joint_XX=0.199552;gnomADv4_1_AF_joint_XY=0.212118;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4178;gnomADv4_1_nhomalt_joint_XX=2042;gnomADv4_1_nhomalt_joint_XY=2136;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27331145 chr22_27331145_A_C A C 35 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.436;CADD_Rawscore=-0.227695;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs4822868|642|1||||4||||||||Ensembl||A|A||||chr22:g.27331145A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs4822868|489|1||||||||||||Ensembl||A|A||||chr22:g.27331145A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs4822868|500|1||||||||||||Ensembl||A|A||||chr22:g.27331145A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs4822868|478|1||||||||||||Ensembl||A|A||||chr22:g.27331145A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs4822868|471|1||||||||||||Ensembl||A|A||||chr22:g.27331145A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs4822868|642|1||||||||||||Ensembl||A|A||||chr22:g.27331145A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs4822868|643|1||||||||||||Ensembl||A|A||||chr22:g.27331145A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs4822868|502|1||||||||||||Ensembl||A|A||||chr22:g.27331145A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs4822868|642|1||||||||||||Ensembl||A|A||||chr22:g.27331145A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs4822868|1797|-1||||||||||||Ensembl||A|A||||chr22:g.27331145A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs4822868|1776|-1||||||||||||Ensembl||A|A||||chr22:g.27331145A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs4822868|1773|-1||||||||||||Ensembl||A|A||||chr22:g.27331145A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs4822868|1773|-1||||||||||||Ensembl||A|A||||chr22:g.27331145A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs4822868|195|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27331145A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs4822868|195|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27331145A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31752;gnomADv4_1_AC_joint_XX=15774;gnomADv4_1_AC_joint_XY=15978;gnomADv4_1_AF_grpmax_joint=0.609732;gnomADv4_1_AF_joint=0.208779;gnomADv4_1_AF_joint_XX=0.202918;gnomADv4_1_AF_joint_XY=0.214908;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4312;gnomADv4_1_nhomalt_joint_XX=2116;gnomADv4_1_nhomalt_joint_XY=2196;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27332045 chr22_27332045_G_C G C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.675;CADD_Rawscore=0.117136;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.152+107G>C|||||||rs9620684||1||||4||||||||Ensembl||G|G||||chr22:g.27332045G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.305+107G>C|||||||rs9620684||1||||||||||||Ensembl||G|G||||chr22:g.27332045G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.294+107G>C|||||||rs9620684||1||||||||||||Ensembl||G|G||||chr22:g.27332045G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.316+107G>C|||||||rs9620684||1||||||||||||Ensembl||G|G||||chr22:g.27332045G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+107G>C|||||||rs9620684||1||||||||||||Ensembl||G|G||||chr22:g.27332045G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.152+107G>C|||||||rs9620684||1||||||||||||Ensembl||G|G||||chr22:g.27332045G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.151+107G>C|||||||rs9620684||1||||||||||||Ensembl||G|G||||chr22:g.27332045G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.292+107G>C|||||||rs9620684||1||||||||||||Ensembl||G|G||||chr22:g.27332045G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.152+107G>C|||||||rs9620684||1||||||||||||Ensembl||G|G||||chr22:g.27332045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs9620684|2697|-1||||||||||||Ensembl||G|G||||chr22:g.27332045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs9620684|2676|-1||||||||||||Ensembl||G|G||||chr22:g.27332045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs9620684|2673|-1||||||||||||Ensembl||G|G||||chr22:g.27332045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs9620684|2673|-1||||||||||||Ensembl||G|G||||chr22:g.27332045G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.371+107G>C|||||||rs9620684||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27332045G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.371+107G>C|||||||rs9620684||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27332045G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7FGB|enhancer||||||||||rs9620684|||||||||||||||||||||chr22:g.27332045G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2,ENSR22_B7FGB;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24728;gnomADv4_1_AC_joint_XX=12626;gnomADv4_1_AC_joint_XY=12102;gnomADv4_1_AF_grpmax_joint=0.19158;gnomADv4_1_AF_joint=0.162353;gnomADv4_1_AF_joint_XX=0.162242;gnomADv4_1_AF_joint_XY=0.162469;gnomADv4_1_AN_grpmax_joint=41518;gnomADv4_1_AN_joint=152310;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74488;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2109;gnomADv4_1_nhomalt_joint_XX=1072;gnomADv4_1_nhomalt_joint_XY=1037;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27332444 chr22_27332444_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.878;CADD_Rawscore=-0.051364;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.152+506C>T|||||||rs12628937||1||||4||||||||Ensembl||C|C||||chr22:g.27332444C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.305+506C>T|||||||rs12628937||1||||||||||||Ensembl||C|C||||chr22:g.27332444C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.294+506C>T|||||||rs12628937||1||||||||||||Ensembl||C|C||||chr22:g.27332444C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.316+506C>T|||||||rs12628937||1||||||||||||Ensembl||C|C||||chr22:g.27332444C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+506C>T|||||||rs12628937||1||||||||||||Ensembl||C|C||||chr22:g.27332444C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.152+506C>T|||||||rs12628937||1||||||||||||Ensembl||C|C||||chr22:g.27332444C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.151+506C>T|||||||rs12628937||1||||||||||||Ensembl||C|C||||chr22:g.27332444C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.292+506C>T|||||||rs12628937||1||||||||||||Ensembl||C|C||||chr22:g.27332444C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.152+506C>T|||||||rs12628937||1||||||||||||Ensembl||C|C||||chr22:g.27332444C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs12628937|3096|-1||||||||||||Ensembl||C|C||||chr22:g.27332444C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs12628937|3075|-1||||||||||||Ensembl||C|C||||chr22:g.27332444C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs12628937|3072|-1||||||||||||Ensembl||C|C||||chr22:g.27332444C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs12628937|3072|-1||||||||||||Ensembl||C|C||||chr22:g.27332444C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.371+506C>T|||||||rs12628937||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27332444C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.371+506C>T|||||||rs12628937||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27332444C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14207;gnomADv4_1_AC_joint_XX=6894;gnomADv4_1_AC_joint_XY=7313;gnomADv4_1_AF_grpmax_joint=0.240336;gnomADv4_1_AF_joint=0.0938561;gnomADv4_1_AF_joint_XX=0.0890192;gnomADv4_1_AF_joint_XY=0.0989232;gnomADv4_1_AN_grpmax_joint=5122;gnomADv4_1_AN_joint=151370;gnomADv4_1_AN_joint_XX=77444;gnomADv4_1_AN_joint_XY=73926;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=738;gnomADv4_1_nhomalt_joint_XX=329;gnomADv4_1_nhomalt_joint_XY=409;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27332546 chr22_27332546_G_GA G GA 22 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=22;CADDIndel_PHREDscore=1.391;CADDIndel_Rawscore=0.068251;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.152+625dup|||||||rs10624824||1||||4||||||||Ensembl||||||17|chr22:g.27332563dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.305+625dup|||||||rs10624824||1||||||||||||Ensembl||||||17|chr22:g.27332563dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.294+625dup|||||||rs10624824||1||||||||||||Ensembl||||||17|chr22:g.27332563dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.316+625dup|||||||rs10624824||1||||||||||||Ensembl||||||17|chr22:g.27332563dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+625dup|||||||rs10624824||1||||||||||||Ensembl||||||17|chr22:g.27332563dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.152+625dup|||||||rs10624824||1||||||||||||Ensembl||||||17|chr22:g.27332563dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.151+625dup|||||||rs10624824||1||||||||||||Ensembl||||||17|chr22:g.27332563dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.292+625dup|||||||rs10624824||1||||||||||||Ensembl||||||17|chr22:g.27332563dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.152+625dup|||||||rs10624824||1||||||||||||Ensembl||||||17|chr22:g.27332563dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs10624824|3198|-1||||||||||||Ensembl|||||||chr22:g.27332563dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs10624824|3177|-1||||||||||||Ensembl|||||||chr22:g.27332563dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs10624824|3174|-1||||||||||||Ensembl|||||||chr22:g.27332563dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs10624824|3174|-1||||||||||||Ensembl|||||||chr22:g.27332563dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.371+625dup|||||||rs10624824||1||EntrezGene||||||||||RefSeq||||||17|chr22:g.27332563dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.371+625dup|||||||rs10624824||1||EntrezGene||||||||||RefSeq||||||17|chr22:g.27332563dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12533;gnomADv4_1_AC_joint_XX=6367;gnomADv4_1_AC_joint_XY=6166;gnomADv4_1_AF_grpmax_joint=0.255607;gnomADv4_1_AF_joint=0.106729;gnomADv4_1_AF_joint_XX=0.102674;gnomADv4_1_AF_joint_XY=0.111268;gnomADv4_1_AN_grpmax_joint=3478;gnomADv4_1_AN_joint=117428;gnomADv4_1_AN_joint_XX=62012;gnomADv4_1_AN_joint_XY=55416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=895;gnomADv4_1_nhomalt_joint_XX=418;gnomADv4_1_nhomalt_joint_XY=477;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27332561 chr22_27332561_A_AAC A AAC 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADDIndel_PHREDscore=0.149;CADDIndel_Rawscore=-0.504381;CSQ=AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.152+624_152+625insCA|||||||rs56963101||1||||4||||||||Ensembl||||||1|chr22:g.27332562_27332563insCA|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.305+624_305+625insCA|||||||rs56963101||1||||||||||||Ensembl||||||1|chr22:g.27332562_27332563insCA|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.294+624_294+625insCA|||||||rs56963101||1||||||||||||Ensembl||||||1|chr22:g.27332562_27332563insCA|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.316+624_316+625insCA|||||||rs56963101||1||||||||||||Ensembl||||||1|chr22:g.27332562_27332563insCA|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+624_323+625insCA|||||||rs56963101||1||||||||||||Ensembl||||||1|chr22:g.27332562_27332563insCA|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.152+624_152+625insCA|||||||rs56963101||1||||||||||||Ensembl||||||1|chr22:g.27332562_27332563insCA|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.151+624_151+625insCA|||||||rs56963101||1||||||||||||Ensembl||||||1|chr22:g.27332562_27332563insCA|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.292+624_292+625insCA|||||||rs56963101||1||||||||||||Ensembl||||||1|chr22:g.27332562_27332563insCA|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.152+624_152+625insCA|||||||rs56963101||1||||||||||||Ensembl||||||1|chr22:g.27332562_27332563insCA|||||||||||||,AC|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs56963101|3213|-1||||||||||||Ensembl|||||||chr22:g.27332562_27332563insCA|||||||||||||,AC|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs56963101|3192|-1||||||||||||Ensembl|||||||chr22:g.27332562_27332563insCA|||||||||||||,AC|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs56963101|3189|-1||||||||||||Ensembl|||||||chr22:g.27332562_27332563insCA|||||||||||||,AC|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs56963101|3189|-1||||||||||||Ensembl|||||||chr22:g.27332562_27332563insCA|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.371+624_371+625insCA|||||||rs56963101||1||EntrezGene||||||||||RefSeq||||||1|chr22:g.27332562_27332563insCA|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.371+624_371+625insCA|||||||rs56963101||1||EntrezGene||||||||||RefSeq||||||1|chr22:g.27332562_27332563insCA|||||||||||||;TYPE=INDEL;VEP_Allele=AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13077;gnomADv4_1_AC_joint_XX=6435;gnomADv4_1_AC_joint_XY=6642;gnomADv4_1_AF_grpmax_joint=0.230187;gnomADv4_1_AF_joint=0.0873851;gnomADv4_1_AF_joint_XX=0.0838502;gnomADv4_1_AF_joint_XY=0.0911061;gnomADv4_1_AN_grpmax_joint=5022;gnomADv4_1_AN_joint=149648;gnomADv4_1_AN_joint_XX=76744;gnomADv4_1_AN_joint_XY=72904;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=703;gnomADv4_1_nhomalt_joint_XX=318;gnomADv4_1_nhomalt_joint_XY=385;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27332904 chr22_27332904_T_TAC T TAC 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.198;CADDIndel_Rawscore=-0.429405;CSQ=AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.152+981_152+982dup|||||||rs35622964||1||||4||||||||Ensembl||||||16|chr22:g.27332919_27332920dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.305+981_305+982dup|||||||rs35622964||1||||||||||||Ensembl||||||16|chr22:g.27332919_27332920dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.294+981_294+982dup|||||||rs35622964||1||||||||||||Ensembl||||||16|chr22:g.27332919_27332920dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.316+981_316+982dup|||||||rs35622964||1||||||||||||Ensembl||||||16|chr22:g.27332919_27332920dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+981_323+982dup|||||||rs35622964||1||||||||||||Ensembl||||||16|chr22:g.27332919_27332920dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.152+981_152+982dup|||||||rs35622964||1||||||||||||Ensembl||||||16|chr22:g.27332919_27332920dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.151+981_151+982dup|||||||rs35622964||1||||||||||||Ensembl||||||16|chr22:g.27332919_27332920dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.292+981_292+982dup|||||||rs35622964||1||||||||||||Ensembl||||||16|chr22:g.27332919_27332920dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.152+981_152+982dup|||||||rs35622964||1||||||||||||Ensembl||||||16|chr22:g.27332919_27332920dup|||||||||||||,AC|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs35622964|3556|-1||||||||||||Ensembl|||||||chr22:g.27332919_27332920dup|||||||||||||,AC|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs35622964|3535|-1||||||||||||Ensembl|||||||chr22:g.27332919_27332920dup|||||||||||||,AC|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs35622964|3532|-1||||||||||||Ensembl|||||||chr22:g.27332919_27332920dup|||||||||||||,AC|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs35622964|3532|-1||||||||||||Ensembl|||||||chr22:g.27332919_27332920dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.371+981_371+982dup|||||||rs35622964||1||EntrezGene||||||||||RefSeq||||||16|chr22:g.27332919_27332920dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.371+981_371+982dup|||||||rs35622964||1||EntrezGene||||||||||RefSeq||||||16|chr22:g.27332919_27332920dup|||||||||||||;TYPE=INDEL;VEP_Allele=AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60958;gnomADv4_1_AC_joint_XX=31446;gnomADv4_1_AC_joint_XY=29512;gnomADv4_1_AF_grpmax_joint=0.493655;gnomADv4_1_AF_joint=0.40459;gnomADv4_1_AF_joint_XX=0.407448;gnomADv4_1_AF_joint_XY=0.401589;gnomADv4_1_AN_grpmax_joint=4728;gnomADv4_1_AN_joint=150666;gnomADv4_1_AN_joint_XX=77178;gnomADv4_1_AN_joint_XY=73488;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=12271;gnomADv4_1_nhomalt_joint_XX=6382;gnomADv4_1_nhomalt_joint_XY=5889;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27333116 chr22_27333116_C_T C T 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=3.553;CADD_Rawscore=0.32548;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.152+1178C>T|||||||rs60884803||1||||4||||||||Ensembl||C|C||||chr22:g.27333116C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.305+1178C>T|||||||rs60884803||1||||||||||||Ensembl||C|C||||chr22:g.27333116C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.294+1178C>T|||||||rs60884803||1||||||||||||Ensembl||C|C||||chr22:g.27333116C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.316+1178C>T|||||||rs60884803||1||||||||||||Ensembl||C|C||||chr22:g.27333116C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+1178C>T|||||||rs60884803||1||||||||||||Ensembl||C|C||||chr22:g.27333116C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.152+1178C>T|||||||rs60884803||1||||||||||||Ensembl||C|C||||chr22:g.27333116C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.151+1178C>T|||||||rs60884803||1||||||||||||Ensembl||C|C||||chr22:g.27333116C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.292+1178C>T|||||||rs60884803||1||||||||||||Ensembl||C|C||||chr22:g.27333116C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.152+1178C>T|||||||rs60884803||1||||||||||||Ensembl||C|C||||chr22:g.27333116C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs60884803|3768|-1||||||||||||Ensembl||C|C||||chr22:g.27333116C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs60884803|3747|-1||||||||||||Ensembl||C|C||||chr22:g.27333116C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs60884803|3744|-1||||||||||||Ensembl||C|C||||chr22:g.27333116C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs60884803|3744|-1||||||||||||Ensembl||C|C||||chr22:g.27333116C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.371+1178C>T|||||||rs60884803||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27333116C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.371+1178C>T|||||||rs60884803||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27333116C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14310;gnomADv4_1_AC_joint_XX=6946;gnomADv4_1_AC_joint_XY=7364;gnomADv4_1_AF_grpmax_joint=0.240333;gnomADv4_1_AF_joint=0.094042;gnomADv4_1_AF_joint_XX=0.0893192;gnomADv4_1_AF_joint_XY=0.0989785;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152166;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=740;gnomADv4_1_nhomalt_joint_XX=333;gnomADv4_1_nhomalt_joint_XY=407;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27333219 chr22_27333219_T_C T C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.929;CADD_Rawscore=-0.036717;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.152+1281T>C|||||||rs57157327||1||||4||||||||Ensembl||T|T||||chr22:g.27333219T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.305+1281T>C|||||||rs57157327||1||||||||||||Ensembl||T|T||||chr22:g.27333219T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.294+1281T>C|||||||rs57157327||1||||||||||||Ensembl||T|T||||chr22:g.27333219T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.316+1281T>C|||||||rs57157327||1||||||||||||Ensembl||T|T||||chr22:g.27333219T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+1281T>C|||||||rs57157327||1||||||||||||Ensembl||T|T||||chr22:g.27333219T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.152+1281T>C|||||||rs57157327||1||||||||||||Ensembl||T|T||||chr22:g.27333219T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.151+1281T>C|||||||rs57157327||1||||||||||||Ensembl||T|T||||chr22:g.27333219T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.292+1281T>C|||||||rs57157327||1||||||||||||Ensembl||T|T||||chr22:g.27333219T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.152+1281T>C|||||||rs57157327||1||||||||||||Ensembl||T|T||||chr22:g.27333219T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs57157327|3871|-1||||||||||||Ensembl||T|T||||chr22:g.27333219T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs57157327|3850|-1||||||||||||Ensembl||T|T||||chr22:g.27333219T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs57157327|3847|-1||||||||||||Ensembl||T|T||||chr22:g.27333219T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs57157327|3847|-1||||||||||||Ensembl||T|T||||chr22:g.27333219T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.371+1281T>C|||||||rs57157327||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27333219T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.371+1281T>C|||||||rs57157327||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27333219T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14550;gnomADv4_1_AC_joint_XX=7072;gnomADv4_1_AC_joint_XY=7478;gnomADv4_1_AF_grpmax_joint=0.240827;gnomADv4_1_AF_joint=0.0955791;gnomADv4_1_AF_joint_XX=0.0908951;gnomADv4_1_AF_joint_XY=0.100476;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152230;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=768;gnomADv4_1_nhomalt_joint_XX=350;gnomADv4_1_nhomalt_joint_XY=418;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27333473 chr22_27333473_C_T C T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.457;CADD_Rawscore=-0.215936;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.152+1535C>T|||||||rs55832061||1||||4||||||||Ensembl||C|C||||chr22:g.27333473C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.305+1535C>T|||||||rs55832061||1||||||||||||Ensembl||C|C||||chr22:g.27333473C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.294+1535C>T|||||||rs55832061||1||||||||||||Ensembl||C|C||||chr22:g.27333473C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.316+1535C>T|||||||rs55832061||1||||||||||||Ensembl||C|C||||chr22:g.27333473C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+1535C>T|||||||rs55832061||1||||||||||||Ensembl||C|C||||chr22:g.27333473C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.152+1535C>T|||||||rs55832061||1||||||||||||Ensembl||C|C||||chr22:g.27333473C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.151+1535C>T|||||||rs55832061||1||||||||||||Ensembl||C|C||||chr22:g.27333473C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.292+1535C>T|||||||rs55832061||1||||||||||||Ensembl||C|C||||chr22:g.27333473C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.152+1535C>T|||||||rs55832061||1||||||||||||Ensembl||C|C||||chr22:g.27333473C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs55832061|4125|-1||||||||||||Ensembl||C|C||||chr22:g.27333473C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs55832061|4104|-1||||||||||||Ensembl||C|C||||chr22:g.27333473C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs55832061|4101|-1||||||||||||Ensembl||C|C||||chr22:g.27333473C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs55832061|4101|-1||||||||||||Ensembl||C|C||||chr22:g.27333473C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.371+1535C>T|||||||rs55832061||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27333473C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.371+1535C>T|||||||rs55832061||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27333473C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15114;gnomADv4_1_AC_joint_XX=7377;gnomADv4_1_AC_joint_XY=7737;gnomADv4_1_AF_grpmax_joint=0.241686;gnomADv4_1_AF_joint=0.0993453;gnomADv4_1_AF_joint_XX=0.0948469;gnomADv4_1_AF_joint_XY=0.104051;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=824;gnomADv4_1_nhomalt_joint_XX=367;gnomADv4_1_nhomalt_joint_XY=457;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27333587 chr22_27333587_G_T G T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.221;CADD_Rawscore=-0.40059;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.153-1571G>T|||||||rs545614||1||||4||||||||Ensembl||G|G||||chr22:g.27333587G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.306-1571G>T|||||||rs545614||1||||||||||||Ensembl||G|G||||chr22:g.27333587G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.295-1571G>T|||||||rs545614||1||||||||||||Ensembl||G|G||||chr22:g.27333587G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.316+1649G>T|||||||rs545614||1||||||||||||Ensembl||G|G||||chr22:g.27333587G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+1649G>T|||||||rs545614||1||||||||||||Ensembl||G|G||||chr22:g.27333587G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.153-1571G>T|||||||rs545614||1||||||||||||Ensembl||G|G||||chr22:g.27333587G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.151+1649G>T|||||||rs545614||1||||||||||||Ensembl||G|G||||chr22:g.27333587G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.292+1649G>T|||||||rs545614||1||||||||||||Ensembl||G|G||||chr22:g.27333587G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.153-1571G>T|||||||rs545614||1||||||||||||Ensembl||G|G||||chr22:g.27333587G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs545614|4239|-1||||||||||||Ensembl||G|G||||chr22:g.27333587G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs545614|4218|-1||||||||||||Ensembl||G|G||||chr22:g.27333587G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs545614|4215|-1||||||||||||Ensembl||G|G||||chr22:g.27333587G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs545614|4215|-1||||||||||||Ensembl||G|G||||chr22:g.27333587G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.372-1571G>T|||||||rs545614||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27333587G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.372-1571G>T|||||||rs545614||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27333587G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61112;gnomADv4_1_AC_joint_XX=31429;gnomADv4_1_AC_joint_XY=29683;gnomADv4_1_AF_grpmax_joint=0.494813;gnomADv4_1_AF_joint=0.401862;gnomADv4_1_AF_joint_XX=0.404315;gnomADv4_1_AF_joint_XY=0.399298;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=12320;gnomADv4_1_nhomalt_joint_XX=6369;gnomADv4_1_nhomalt_joint_XY=5951;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27333781 chr22_27333781_A_G A G 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.555;CADD_Rawscore=0.097526;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.153-1377A>G|||||||rs568561||1||||4||||||||Ensembl||A|A||||chr22:g.27333781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.306-1377A>G|||||||rs568561||1||||||||||||Ensembl||A|A||||chr22:g.27333781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.295-1377A>G|||||||rs568561||1||||||||||||Ensembl||A|A||||chr22:g.27333781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.316+1843A>G|||||||rs568561||1||||||||||||Ensembl||A|A||||chr22:g.27333781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+1843A>G|||||||rs568561||1||||||||||||Ensembl||A|A||||chr22:g.27333781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.153-1377A>G|||||||rs568561||1||||||||||||Ensembl||A|A||||chr22:g.27333781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.151+1843A>G|||||||rs568561||1||||||||||||Ensembl||A|A||||chr22:g.27333781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.292+1843A>G|||||||rs568561||1||||||||||||Ensembl||A|A||||chr22:g.27333781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.153-1377A>G|||||||rs568561||1||||||||||||Ensembl||A|A||||chr22:g.27333781A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs568561|4433|-1||||||||||||Ensembl||A|A||||chr22:g.27333781A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs568561|4412|-1||||||||||||Ensembl||A|A||||chr22:g.27333781A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs568561|4409|-1||||||||||||Ensembl||A|A||||chr22:g.27333781A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs568561|4409|-1||||||||||||Ensembl||A|A||||chr22:g.27333781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.372-1377A>G|||||||rs568561||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27333781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.372-1377A>G|||||||rs568561||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27333781A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61257;gnomADv4_1_AC_joint_XX=31508;gnomADv4_1_AC_joint_XY=29749;gnomADv4_1_AF_grpmax_joint=0.494193;gnomADv4_1_AF_joint=0.402906;gnomADv4_1_AF_joint_XX=0.405414;gnomADv4_1_AF_joint_XY=0.400283;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152038;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=12365;gnomADv4_1_nhomalt_joint_XX=6398;gnomADv4_1_nhomalt_joint_XY=5967;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27333847 chr22_27333847_A_G A G 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=4.056;CADD_Rawscore=0.370165;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.153-1311A>G|||||||rs75263899||1||||4||||||||Ensembl||A|A||||chr22:g.27333847A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.306-1311A>G|||||||rs75263899||1||||||||||||Ensembl||A|A||||chr22:g.27333847A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.295-1311A>G|||||||rs75263899||1||||||||||||Ensembl||A|A||||chr22:g.27333847A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.316+1909A>G|||||||rs75263899||1||||||||||||Ensembl||A|A||||chr22:g.27333847A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+1909A>G|||||||rs75263899||1||||||||||||Ensembl||A|A||||chr22:g.27333847A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.153-1311A>G|||||||rs75263899||1||||||||||||Ensembl||A|A||||chr22:g.27333847A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.151+1909A>G|||||||rs75263899||1||||||||||||Ensembl||A|A||||chr22:g.27333847A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.292+1909A>G|||||||rs75263899||1||||||||||||Ensembl||A|A||||chr22:g.27333847A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.153-1311A>G|||||||rs75263899||1||||||||||||Ensembl||A|A||||chr22:g.27333847A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs75263899|4499|-1||||||||||||Ensembl||A|A||||chr22:g.27333847A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs75263899|4478|-1||||||||||||Ensembl||A|A||||chr22:g.27333847A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs75263899|4475|-1||||||||||||Ensembl||A|A||||chr22:g.27333847A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs75263899|4475|-1||||||||||||Ensembl||A|A||||chr22:g.27333847A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.372-1311A>G|||||||rs75263899||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27333847A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.372-1311A>G|||||||rs75263899||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27333847A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5975;gnomADv4_1_AC_joint_XX=2908;gnomADv4_1_AC_joint_XY=3067;gnomADv4_1_AF_grpmax_joint=0.110398;gnomADv4_1_AF_joint=0.0392292;gnomADv4_1_AF_joint_XX=0.0373664;gnomADv4_1_AF_joint_XY=0.0411755;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152310;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=151;gnomADv4_1_nhomalt_joint_XX=53;gnomADv4_1_nhomalt_joint_XY=98;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27334148 chr22_27334148_A_G A G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.152;CADD_Rawscore=0.018887;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.153-1010A>G|||||||rs572159||1||||4||||||||Ensembl||A|A||||chr22:g.27334148A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.306-1010A>G|||||||rs572159||1||||||||||||Ensembl||A|A||||chr22:g.27334148A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.295-1010A>G|||||||rs572159||1||||||||||||Ensembl||A|A||||chr22:g.27334148A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.317-1949A>G|||||||rs572159||1||||||||||||Ensembl||A|A||||chr22:g.27334148A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+2210A>G|||||||rs572159||1||||||||||||Ensembl||A|A||||chr22:g.27334148A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.153-1010A>G|||||||rs572159||1||||||||||||Ensembl||A|A||||chr22:g.27334148A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.152-1949A>G|||||||rs572159||1||||||||||||Ensembl||A|A||||chr22:g.27334148A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.293-1949A>G|||||||rs572159||1||||||||||||Ensembl||A|A||||chr22:g.27334148A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.153-1010A>G|||||||rs572159||1||||||||||||Ensembl||A|A||||chr22:g.27334148A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs572159|4800|-1||||||||||||Ensembl||A|A||||chr22:g.27334148A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs572159|4779|-1||||||||||||Ensembl||A|A||||chr22:g.27334148A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs572159|4776|-1||||||||||||Ensembl||A|A||||chr22:g.27334148A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs572159|4776|-1||||||||||||Ensembl||A|A||||chr22:g.27334148A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.372-1010A>G|||||||rs572159||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27334148A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.372-1010A>G|||||||rs572159||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27334148A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60295;gnomADv4_1_AC_joint_XX=31285;gnomADv4_1_AC_joint_XY=29010;gnomADv4_1_AF_grpmax_joint=0.472776;gnomADv4_1_AF_joint=0.396422;gnomADv4_1_AF_joint_XX=0.402493;gnomADv4_1_AF_joint_XY=0.390077;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=12327;gnomADv4_1_nhomalt_joint_XX=6470;gnomADv4_1_nhomalt_joint_XY=5857;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27334252 chr22_27334252_G_T G T 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.79;CADD_Rawscore=-0.078442;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.153-906G>T|||||||rs573101||1||||4||||||||Ensembl||G|G||||chr22:g.27334252G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.306-906G>T|||||||rs573101||1||||||||||||Ensembl||G|G||||chr22:g.27334252G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.295-906G>T|||||||rs573101||1||||||||||||Ensembl||G|G||||chr22:g.27334252G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.317-1845G>T|||||||rs573101||1||||||||||||Ensembl||G|G||||chr22:g.27334252G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+2314G>T|||||||rs573101||1||||||||||||Ensembl||G|G||||chr22:g.27334252G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.153-906G>T|||||||rs573101||1||||||||||||Ensembl||G|G||||chr22:g.27334252G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.152-1845G>T|||||||rs573101||1||||||||||||Ensembl||G|G||||chr22:g.27334252G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.293-1845G>T|||||||rs573101||1||||||||||||Ensembl||G|G||||chr22:g.27334252G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.153-906G>T|||||||rs573101||1||||||||||||Ensembl||G|G||||chr22:g.27334252G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs573101|4904|-1||||||||||||Ensembl||G|G||||chr22:g.27334252G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs573101|4883|-1||||||||||||Ensembl||G|G||||chr22:g.27334252G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs573101|4880|-1||||||||||||Ensembl||G|G||||chr22:g.27334252G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs573101|4880|-1||||||||||||Ensembl||G|G||||chr22:g.27334252G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.372-906G>T|||||||rs573101||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27334252G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.372-906G>T|||||||rs573101||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27334252G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=99906;gnomADv4_1_AC_joint_XX=51036;gnomADv4_1_AC_joint_XY=48870;gnomADv4_1_AF_grpmax_joint=0.738164;gnomADv4_1_AF_joint=0.656956;gnomADv4_1_AF_joint_XX=0.656428;gnomADv4_1_AF_joint_XY=0.657509;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=32886;gnomADv4_1_nhomalt_joint_XX=16749;gnomADv4_1_nhomalt_joint_XY=16137;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27334269 chr22_27334269_G_T G T 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.445;CADD_Rawscore=-0.222529;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.153-889G>T|||||||rs573155||1||||4||||||||Ensembl||G|G||||chr22:g.27334269G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.306-889G>T|||||||rs573155||1||||||||||||Ensembl||G|G||||chr22:g.27334269G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.295-889G>T|||||||rs573155||1||||||||||||Ensembl||G|G||||chr22:g.27334269G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.317-1828G>T|||||||rs573155||1||||||||||||Ensembl||G|G||||chr22:g.27334269G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+2331G>T|||||||rs573155||1||||||||||||Ensembl||G|G||||chr22:g.27334269G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.153-889G>T|||||||rs573155||1||||||||||||Ensembl||G|G||||chr22:g.27334269G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.152-1828G>T|||||||rs573155||1||||||||||||Ensembl||G|G||||chr22:g.27334269G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.293-1828G>T|||||||rs573155||1||||||||||||Ensembl||G|G||||chr22:g.27334269G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.153-889G>T|||||||rs573155||1||||||||||||Ensembl||G|G||||chr22:g.27334269G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790894|lncRNA||||||||||rs573155|4921|-1||||||||||||Ensembl||G|G||||chr22:g.27334269G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790895|lncRNA||||||||||rs573155|4900|-1||||||||||||Ensembl||G|G||||chr22:g.27334269G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790896|lncRNA||||||||||rs573155|4897|-1||||||||||||Ensembl||G|G||||chr22:g.27334269G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302993|Transcript|ENST00000790898|lncRNA||||||||||rs573155|4897|-1||||||||||||Ensembl||G|G||||chr22:g.27334269G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.372-889G>T|||||||rs573155||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27334269G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.372-889G>T|||||||rs573155||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27334269G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,ENST00000790894,ENST00000790895,ENST00000790896,ENST00000790898,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000302993,ENSG00000302993,ENSG00000302993,ENSG00000302993,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59866;gnomADv4_1_AC_joint_XX=31093;gnomADv4_1_AC_joint_XY=28773;gnomADv4_1_AF_grpmax_joint=0.469464;gnomADv4_1_AF_joint=0.393648;gnomADv4_1_AF_joint_XX=0.399941;gnomADv4_1_AF_joint_XY=0.387067;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=12163;gnomADv4_1_nhomalt_joint_XX=6399;gnomADv4_1_nhomalt_joint_XY=5764;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27334393 chr22_27334393_T_A T A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=5.712;CADD_Rawscore=0.524378;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.153-765T>A|||||||rs1850752||1||||4||||||||Ensembl||T|T||||chr22:g.27334393T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.306-765T>A|||||||rs1850752||1||||||||||||Ensembl||T|T||||chr22:g.27334393T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.295-765T>A|||||||rs1850752||1||||||||||||Ensembl||T|T||||chr22:g.27334393T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.317-1704T>A|||||||rs1850752||1||||||||||||Ensembl||T|T||||chr22:g.27334393T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+2455T>A|||||||rs1850752||1||||||||||||Ensembl||T|T||||chr22:g.27334393T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.153-765T>A|||||||rs1850752||1||||||||||||Ensembl||T|T||||chr22:g.27334393T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.152-1704T>A|||||||rs1850752||1||||||||||||Ensembl||T|T||||chr22:g.27334393T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.293-1704T>A|||||||rs1850752||1||||||||||||Ensembl||T|T||||chr22:g.27334393T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.153-765T>A|||||||rs1850752||1||||||||||||Ensembl||T|T||||chr22:g.27334393T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.372-765T>A|||||||rs1850752||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27334393T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.372-765T>A|||||||rs1850752||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27334393T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11349;gnomADv4_1_AC_joint_XX=5407;gnomADv4_1_AC_joint_XY=5942;gnomADv4_1_AF_grpmax_joint=0.24361;gnomADv4_1_AF_joint=0.0746497;gnomADv4_1_AF_joint_XX=0.069581;gnomADv4_1_AF_joint_XY=0.0799494;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152030;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=618;gnomADv4_1_nhomalt_joint_XX=272;gnomADv4_1_nhomalt_joint_XY=346;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27334895 chr22_27334895_G_C G C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.043;CADD_Rawscore=-0.840221;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.153-263G>C|||||||rs56180817||1||||4||||||||Ensembl||G|G||||chr22:g.27334895G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.306-263G>C|||||||rs56180817||1||||||||||||Ensembl||G|G||||chr22:g.27334895G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.295-263G>C|||||||rs56180817||1||||||||||||Ensembl||G|G||||chr22:g.27334895G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.317-1202G>C|||||||rs56180817||1||||||||||||Ensembl||G|G||||chr22:g.27334895G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+2957G>C|||||||rs56180817||1||||||||||||Ensembl||G|G||||chr22:g.27334895G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.153-263G>C|||||||rs56180817||1||||||||||||Ensembl||G|G||||chr22:g.27334895G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.152-1202G>C|||||||rs56180817||1||||||||||||Ensembl||G|G||||chr22:g.27334895G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.293-1202G>C|||||||rs56180817||1||||||||||||Ensembl||G|G||||chr22:g.27334895G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.153-263G>C|||||||rs56180817||1||||||||||||Ensembl||G|G||||chr22:g.27334895G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.372-263G>C|||||||rs56180817||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27334895G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.372-263G>C|||||||rs56180817||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27334895G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8990;gnomADv4_1_AC_joint_XX=4153;gnomADv4_1_AC_joint_XY=4837;gnomADv4_1_AF_grpmax_joint=0.237819;gnomADv4_1_AF_joint=0.0590414;gnomADv4_1_AF_joint_XX=0.0533667;gnomADv4_1_AF_joint_XY=0.0649733;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152266;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=461;gnomADv4_1_nhomalt_joint_XX=201;gnomADv4_1_nhomalt_joint_XY=260;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27335025 chr22_27335025_G_C G C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.142;CADD_Rawscore=-0.517406;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.153-133G>C|||||||rs515891||1||||4||||||||Ensembl||G|G||||chr22:g.27335025G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.306-133G>C|||||||rs515891||1||||||||||||Ensembl||G|G||||chr22:g.27335025G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.295-133G>C|||||||rs515891||1||||||||||||Ensembl||G|G||||chr22:g.27335025G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.317-1072G>C|||||||rs515891||1||||||||||||Ensembl||G|G||||chr22:g.27335025G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+3087G>C|||||||rs515891||1||||||||||||Ensembl||G|G||||chr22:g.27335025G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.153-133G>C|||||||rs515891||1||||||||||||Ensembl||G|G||||chr22:g.27335025G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.152-1072G>C|||||||rs515891||1||||||||||||Ensembl||G|G||||chr22:g.27335025G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.293-1072G>C|||||||rs515891||1||||||||||||Ensembl||G|G||||chr22:g.27335025G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.153-133G>C|||||||rs515891||1||||||||||||Ensembl||G|G||||chr22:g.27335025G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.372-133G>C|||||||rs515891||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27335025G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.372-133G>C|||||||rs515891||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27335025G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=117483;gnomADv4_1_AC_joint_XX=60061;gnomADv4_1_AC_joint_XY=57422;gnomADv4_1_AF_grpmax_joint=0.92261;gnomADv4_1_AF_joint=0.775803;gnomADv4_1_AF_joint_XX=0.775061;gnomADv4_1_AF_joint_XY=0.776582;gnomADv4_1_AN_grpmax_joint=5104;gnomADv4_1_AN_joint=151434;gnomADv4_1_AN_joint_XX=77492;gnomADv4_1_AN_joint_XY=73942;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=45679;gnomADv4_1_nhomalt_joint_XX=23281;gnomADv4_1_nhomalt_joint_XY=22398;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27335031 chr22_27335031_C_A C A 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.422;CADD_Rawscore=-0.235781;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||1/3|ENST00000413244.1:n.153-127C>A|||||||rs515888||1||||4||||||||Ensembl||C|C||||chr22:g.27335031C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||1/4|ENST00000668323.1:n.306-127C>A|||||||rs515888||1||||||||||||Ensembl||C|C||||chr22:g.27335031C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||1/3|ENST00000669277.3:n.295-127C>A|||||||rs515888||1||||||||||||Ensembl||C|C||||chr22:g.27335031C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.317-1066C>A|||||||rs515888||1||||||||||||Ensembl||C|C||||chr22:g.27335031C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+3093C>A|||||||rs515888||1||||||||||||Ensembl||C|C||||chr22:g.27335031C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||1/4|ENST00000786370.1:n.153-127C>A|||||||rs515888||1||||||||||||Ensembl||C|C||||chr22:g.27335031C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.152-1066C>A|||||||rs515888||1||||||||||||Ensembl||C|C||||chr22:g.27335031C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.293-1066C>A|||||||rs515888||1||||||||||||Ensembl||C|C||||chr22:g.27335031C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||1/3|ENST00000786373.1:n.153-127C>A|||||||rs515888||1||||||||||||Ensembl||C|C||||chr22:g.27335031C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||2/4|XR_430432.4:n.372-127C>A|||||||rs515888||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27335031C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||2/4|XR_938122.2:n.372-127C>A|||||||rs515888||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27335031C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=117503;gnomADv4_1_AC_joint_XX=60092;gnomADv4_1_AC_joint_XY=57411;gnomADv4_1_AF_grpmax_joint=0.922761;gnomADv4_1_AF_joint=0.776028;gnomADv4_1_AF_joint_XX=0.775341;gnomADv4_1_AF_joint_XY=0.776748;gnomADv4_1_AN_grpmax_joint=5114;gnomADv4_1_AN_joint=151416;gnomADv4_1_AN_joint_XX=77504;gnomADv4_1_AN_joint_XY=73912;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=45694;gnomADv4_1_nhomalt_joint_XX=23298;gnomADv4_1_nhomalt_joint_XY=22396;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27335333 chr22_27335333_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.594;CADD_Rawscore=0.233781;CSQ=A|splice_donor_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000230051|Transcript|ENST00000413244|lncRNA||2/3|ENST00000413244.1:n.325+3G>A|||||||rs909527||1||||4||||||||Ensembl||G|G||||chr22:g.27335333G>A|||||||||||||,A|splice_donor_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000230051|Transcript|ENST00000668323|lncRNA||2/4|ENST00000668323.1:n.478+3G>A|||||||rs909527||1||||||||||||Ensembl||G|G||||chr22:g.27335333G>A|||||||||||||,A|splice_donor_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000230051|Transcript|ENST00000669277|lncRNA||2/3|ENST00000669277.3:n.467+3G>A|||||||rs909527||1||||||||||||Ensembl||G|G||||chr22:g.27335333G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.317-764G>A|||||||rs909527||1||||||||||||Ensembl||G|G||||chr22:g.27335333G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+3395G>A|||||||rs909527||1||||||||||||Ensembl||G|G||||chr22:g.27335333G>A|||||||||||||,A|splice_donor_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000230051|Transcript|ENST00000786370|lncRNA||2/4|ENST00000786370.1:n.325+3G>A|||||||rs909527||1||||||||||||Ensembl||G|G||||chr22:g.27335333G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.152-764G>A|||||||rs909527||1||||||||||||Ensembl||G|G||||chr22:g.27335333G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.293-764G>A|||||||rs909527||1||||||||||||Ensembl||G|G||||chr22:g.27335333G>A|||||||||||||,A|splice_donor_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000230051|Transcript|ENST00000786373|lncRNA||2/3|ENST00000786373.1:n.325+3G>A|||||||rs909527||1||||||||||||Ensembl||G|G||||chr22:g.27335333G>A|||||||||||||,A|splice_donor_region_variant&intron_variant&non_coding_transcript_variant|LOW|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||3/4|XR_430432.4:n.544+3G>A|||||||rs909527||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27335333G>A|||||||||||||,A|splice_donor_region_variant&intron_variant&non_coding_transcript_variant|LOW|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||3/4|XR_938122.2:n.544+3G>A|||||||rs909527||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27335333G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68077;gnomADv4_1_AC_joint_XX=35450;gnomADv4_1_AC_joint_XY=32627;gnomADv4_1_AF_grpmax_joint=0.559601;gnomADv4_1_AF_joint=0.447881;gnomADv4_1_AF_joint_XX=0.456218;gnomADv4_1_AF_joint_XY=0.439161;gnomADv4_1_AN_grpmax_joint=67952;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16581;gnomADv4_1_nhomalt_joint_XX=8821;gnomADv4_1_nhomalt_joint_XY=7760;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27335427 chr22_27335427_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.855;CADD_Rawscore=0.144072;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||2/3|ENST00000413244.1:n.325+97A>G|||||||rs909528||1||||4||||||||Ensembl||A|A||||chr22:g.27335427A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||2/4|ENST00000668323.1:n.478+97A>G|||||||rs909528||1||||||||||||Ensembl||A|A||||chr22:g.27335427A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||2/3|ENST00000669277.3:n.467+97A>G|||||||rs909528||1||||||||||||Ensembl||A|A||||chr22:g.27335427A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.317-670A>G|||||||rs909528||1||||||||||||Ensembl||A|A||||chr22:g.27335427A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+3489A>G|||||||rs909528||1||||||||||||Ensembl||A|A||||chr22:g.27335427A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||2/4|ENST00000786370.1:n.325+97A>G|||||||rs909528||1||||||||||||Ensembl||A|A||||chr22:g.27335427A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.152-670A>G|||||||rs909528||1||||||||||||Ensembl||A|A||||chr22:g.27335427A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.293-670A>G|||||||rs909528||1||||||||||||Ensembl||A|A||||chr22:g.27335427A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||2/3|ENST00000786373.1:n.325+97A>G|||||||rs909528||1||||||||||||Ensembl||A|A||||chr22:g.27335427A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||3/4|XR_430432.4:n.544+97A>G|||||||rs909528||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27335427A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||3/4|XR_938122.2:n.544+97A>G|||||||rs909528||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27335427A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=79068;gnomADv4_1_AC_joint_XX=40878;gnomADv4_1_AC_joint_XY=38190;gnomADv4_1_AF_grpmax_joint=0.622429;gnomADv4_1_AF_joint=0.519931;gnomADv4_1_AF_joint_XX=0.525884;gnomADv4_1_AF_joint_XY=0.513707;gnomADv4_1_AN_grpmax_joint=67974;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=21863;gnomADv4_1_nhomalt_joint_XX=11437;gnomADv4_1_nhomalt_joint_XY=10426;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27335509 chr22_27335509_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.199;CADD_Rawscore=-0.427626;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||2/3|ENST00000413244.1:n.325+179C>T|||||||rs490362||1||||4||||||||Ensembl||C|C||||chr22:g.27335509C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||2/4|ENST00000668323.1:n.478+179C>T|||||||rs490362||1||||||||||||Ensembl||C|C||||chr22:g.27335509C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||2/3|ENST00000669277.3:n.467+179C>T|||||||rs490362||1||||||||||||Ensembl||C|C||||chr22:g.27335509C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||1/2|ENST00000692427.2:n.317-588C>T|||||||rs490362||1||||||||||||Ensembl||C|C||||chr22:g.27335509C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+3571C>T|||||||rs490362||1||||||||||||Ensembl||C|C||||chr22:g.27335509C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||2/4|ENST00000786370.1:n.325+179C>T|||||||rs490362||1||||||||||||Ensembl||C|C||||chr22:g.27335509C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||1/3|ENST00000786371.1:n.152-588C>T|||||||rs490362||1||||||||||||Ensembl||C|C||||chr22:g.27335509C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||1/2|ENST00000786372.1:n.293-588C>T|||||||rs490362||1||||||||||||Ensembl||C|C||||chr22:g.27335509C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||2/3|ENST00000786373.1:n.325+179C>T|||||||rs490362||1||||||||||||Ensembl||C|C||||chr22:g.27335509C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||3/4|XR_430432.4:n.544+179C>T|||||||rs490362||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27335509C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||3/4|XR_938122.2:n.544+179C>T|||||||rs490362||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27335509C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=103944;gnomADv4_1_AC_joint_XX=53416;gnomADv4_1_AC_joint_XY=50528;gnomADv4_1_AF_grpmax_joint=0.805846;gnomADv4_1_AF_joint=0.683168;gnomADv4_1_AF_joint_XX=0.686899;gnomADv4_1_AF_joint_XY=0.679268;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=35759;gnomADv4_1_nhomalt_joint_XX=18411;gnomADv4_1_nhomalt_joint_XY=17348;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27336637 chr22_27336637_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.587;CADD_Rawscore=-0.15321;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+375C>T|||||||rs9608600||1||||4||||||||Ensembl||C|C||||chr22:g.27336637C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||3/4|ENST00000668323.1:n.644+375C>T|||||||rs9608600||1||||||||||||Ensembl||C|C||||chr22:g.27336637C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.633+375C>T|||||||rs9608600||1||||||||||||Ensembl||C|C||||chr22:g.27336637C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.482+375C>T|||||||rs9608600||1||||||||||||Ensembl||C|C||||chr22:g.27336637C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+4699C>T|||||||rs9608600||1||||||||||||Ensembl||C|C||||chr22:g.27336637C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||3/4|ENST00000786370.1:n.491+375C>T|||||||rs9608600||1||||||||||||Ensembl||C|C||||chr22:g.27336637C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||2/3|ENST00000786371.1:n.317+375C>T|||||||rs9608600||1||||||||||||Ensembl||C|C||||chr22:g.27336637C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA|3/3||ENST00000786372.1:n.531C>T||531|||||rs9608600||1||||||||||||Ensembl||C|C||||chr22:g.27336637C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA|4/4||ENST00000786373.1:n.564C>T||564|||||rs9608600||1||||||||||||Ensembl||C|C||||chr22:g.27336637C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.710+375C>T|||||||rs9608600||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27336637C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||4/4|XR_938122.2:n.710+375C>T|||||||rs9608600||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27336637C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7FGZ|enhancer||||||||||rs9608600|||||||||||||||||||||chr22:g.27336637C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,XR_430432.4,XR_938122.2,ENSR22_B7FGZ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42997;gnomADv4_1_AC_joint_XX=22400;gnomADv4_1_AC_joint_XY=20597;gnomADv4_1_AF_grpmax_joint=0.382755;gnomADv4_1_AF_joint=0.282771;gnomADv4_1_AF_joint_XX=0.288207;gnomADv4_1_AF_joint_XY=0.277087;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7012;gnomADv4_1_nhomalt_joint_XX=3747;gnomADv4_1_nhomalt_joint_XY=3265;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27337579 chr22_27337579_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.097;CADD_Rawscore=0.17646;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+1317C>T|||||||rs8136465||1||||4||||||||Ensembl||C|C||||chr22:g.27337579C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA|4/5||ENST00000668323.1:n.1088C>T||1088|||||rs8136465||1||||||||||||Ensembl||C|C||||chr22:g.27337579C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.633+1317C>T|||||||rs8136465||1||||||||||||Ensembl||C|C||||chr22:g.27337579C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.482+1317C>T|||||||rs8136465||1||||||||||||Ensembl||C|C||||chr22:g.27337579C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+5641C>T|||||||rs8136465||1||||||||||||Ensembl||C|C||||chr22:g.27337579C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA|4/5||ENST00000786370.1:n.504C>T||504|||||rs8136465||1||||||||||||Ensembl||C|C||||chr22:g.27337579C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA|3/4||ENST00000786371.1:n.761C>T||761|||||rs8136465||1||||||||||||Ensembl||C|C||||chr22:g.27337579C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs8136465|801|1||||||||||||Ensembl||C|C||||chr22:g.27337579C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs8136465|803|1||||||||||||Ensembl||C|C||||chr22:g.27337579C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.710+1317C>T|||||||rs8136465||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27337579C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA|5/5||XR_938122.2:n.1154C>T||1154|||||rs8136465||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27337579C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28801;gnomADv4_1_AC_joint_XX=14880;gnomADv4_1_AC_joint_XY=13921;gnomADv4_1_AF_grpmax_joint=0.21677;gnomADv4_1_AF_joint=0.189493;gnomADv4_1_AF_joint_XX=0.191452;gnomADv4_1_AF_joint_XY=0.187443;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2881;gnomADv4_1_nhomalt_joint_XX=1488;gnomADv4_1_nhomalt_joint_XY=1393;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27339249 chr22_27339249_T_G T G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=15.86;CADD_Rawscore=1.81246;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+2987T>G|||||||rs9620685||1||||4||||||||Ensembl||T|T||||chr22:g.27339249T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1166+1592T>G|||||||rs9620685||1||||||||||||Ensembl||T|T||||chr22:g.27339249T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.633+2987T>G|||||||rs9620685||1||||||||||||Ensembl||T|T||||chr22:g.27339249T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.482+2987T>G|||||||rs9620685||1||||||||||||Ensembl||T|T||||chr22:g.27339249T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+7311T>G|||||||rs9620685||1||||||||||||Ensembl||T|T||||chr22:g.27339249T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.582+1592T>G|||||||rs9620685||1||||||||||||Ensembl||T|T||||chr22:g.27339249T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.839+1592T>G|||||||rs9620685||1||||||||||||Ensembl||T|T||||chr22:g.27339249T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs9620685|2471|1||||||||||||Ensembl||T|T||||chr22:g.27339249T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs9620685|2473|1||||||||||||Ensembl||T|T||||chr22:g.27339249T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.710+2987T>G|||||||rs9620685||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27339249T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA|5/5||XR_938122.2:n.2824T>G||2824|||||rs9620685||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27339249T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28173;gnomADv4_1_AC_joint_XX=14551;gnomADv4_1_AC_joint_XY=13622;gnomADv4_1_AF_grpmax_joint=0.228128;gnomADv4_1_AF_joint=0.185091;gnomADv4_1_AF_joint_XX=0.187074;gnomADv4_1_AF_joint_XY=0.183018;gnomADv4_1_AN_grpmax_joint=67988;gnomADv4_1_AN_joint=152212;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2909;gnomADv4_1_nhomalt_joint_XX=1503;gnomADv4_1_nhomalt_joint_XY=1406;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27341432 chr22_27341432_T_C T C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=5.268;CADD_Rawscore=0.481154;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+5170T>C|||||||rs79116812||1||||4||||||||Ensembl||T|T||||chr22:g.27341432T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1166+3775T>C|||||||rs79116812||1||||||||||||Ensembl||T|T||||chr22:g.27341432T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.633+5170T>C|||||||rs79116812||1||||||||||||Ensembl||T|T||||chr22:g.27341432T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.482+5170T>C|||||||rs79116812||1||||||||||||Ensembl||T|T||||chr22:g.27341432T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+9494T>C|||||||rs79116812||1||||||||||||Ensembl||T|T||||chr22:g.27341432T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.582+3775T>C|||||||rs79116812||1||||||||||||Ensembl||T|T||||chr22:g.27341432T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.839+3775T>C|||||||rs79116812||1||||||||||||Ensembl||T|T||||chr22:g.27341432T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs79116812|4654|1||||||||||||Ensembl||T|T||||chr22:g.27341432T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs79116812|4656|1||||||||||||Ensembl||T|T||||chr22:g.27341432T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.710+5170T>C|||||||rs79116812||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27341432T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA|5/5||XR_938122.2:n.5007T>C||5007|||||rs79116812||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27341432T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24344;gnomADv4_1_AC_joint_XX=12509;gnomADv4_1_AC_joint_XY=11835;gnomADv4_1_AF_grpmax_joint=0.217327;gnomADv4_1_AF_joint=0.160053;gnomADv4_1_AF_joint_XX=0.160929;gnomADv4_1_AF_joint_XY=0.159137;gnomADv4_1_AN_grpmax_joint=67884;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2470;gnomADv4_1_nhomalt_joint_XX=1273;gnomADv4_1_nhomalt_joint_XY=1197;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27341670 chr22_27341670_C_T C T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=7.024;CADD_Rawscore=0.660677;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+5408C>T|||||||rs478460||1||||4||||||||Ensembl||C|C||||chr22:g.27341670C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1166+4013C>T|||||||rs478460||1||||||||||||Ensembl||C|C||||chr22:g.27341670C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.633+5408C>T|||||||rs478460||1||||||||||||Ensembl||C|C||||chr22:g.27341670C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.482+5408C>T|||||||rs478460||1||||||||||||Ensembl||C|C||||chr22:g.27341670C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+9732C>T|||||||rs478460||1||||||||||||Ensembl||C|C||||chr22:g.27341670C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.582+4013C>T|||||||rs478460||1||||||||||||Ensembl||C|C||||chr22:g.27341670C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.839+4013C>T|||||||rs478460||1||||||||||||Ensembl||C|C||||chr22:g.27341670C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786372|lncRNA||||||||||rs478460|4892|1||||||||||||Ensembl||C|C||||chr22:g.27341670C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786373|lncRNA||||||||||rs478460|4894|1||||||||||||Ensembl||C|C||||chr22:g.27341670C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.710+5408C>T|||||||rs478460||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27341670C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA|5/5||XR_938122.2:n.5245C>T||5245|||||rs478460||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27341670C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,ENST00000786372,ENST00000786373,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=102839;gnomADv4_1_AC_joint_XX=52847;gnomADv4_1_AC_joint_XY=49992;gnomADv4_1_AF_grpmax_joint=0.803523;gnomADv4_1_AF_joint=0.677499;gnomADv4_1_AF_joint_XX=0.680895;gnomADv4_1_AF_joint_XY=0.673946;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151792;gnomADv4_1_AN_joint_XX=77614;gnomADv4_1_AN_joint_XY=74178;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34999;gnomADv4_1_nhomalt_joint_XX=18004;gnomADv4_1_nhomalt_joint_XY=16995;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27342199 chr22_27342199_C_A C A 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=2.154;CADD_Rawscore=0.183701;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+5937C>A|||||||rs483226||1||||4||||||||Ensembl||C|C||||chr22:g.27342199C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1166+4542C>A|||||||rs483226||1||||||||||||Ensembl||C|C||||chr22:g.27342199C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.633+5937C>A|||||||rs483226||1||||||||||||Ensembl||C|C||||chr22:g.27342199C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.482+5937C>A|||||||rs483226||1||||||||||||Ensembl||C|C||||chr22:g.27342199C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+10261C>A|||||||rs483226||1||||||||||||Ensembl||C|C||||chr22:g.27342199C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.582+4542C>A|||||||rs483226||1||||||||||||Ensembl||C|C||||chr22:g.27342199C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.839+4542C>A|||||||rs483226||1||||||||||||Ensembl||C|C||||chr22:g.27342199C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.710+5937C>A|||||||rs483226||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27342199C>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA|5/5||XR_938122.2:n.5774C>A||5774|||||rs483226||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27342199C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=75856;gnomADv4_1_AC_joint_XX=39500;gnomADv4_1_AC_joint_XY=36356;gnomADv4_1_AF_grpmax_joint=0.600449;gnomADv4_1_AF_joint=0.500264;gnomADv4_1_AF_joint_XX=0.509086;gnomADv4_1_AF_joint_XY=0.491019;gnomADv4_1_AN_grpmax_joint=67696;gnomADv4_1_AN_joint=151632;gnomADv4_1_AN_joint_XX=77590;gnomADv4_1_AN_joint_XY=74042;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=20023;gnomADv4_1_nhomalt_joint_XX=10606;gnomADv4_1_nhomalt_joint_XY=9417;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27342265 chr22_27342265_G_T G T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.89;CADD_Rawscore=-0.047791;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+6003G>T|||||||rs483997||1||||4||||||||Ensembl||G|G||||chr22:g.27342265G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1166+4608G>T|||||||rs483997||1||||||||||||Ensembl||G|G||||chr22:g.27342265G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.633+6003G>T|||||||rs483997||1||||||||||||Ensembl||G|G||||chr22:g.27342265G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.482+6003G>T|||||||rs483997||1||||||||||||Ensembl||G|G||||chr22:g.27342265G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+10327G>T|||||||rs483997||1||||||||||||Ensembl||G|G||||chr22:g.27342265G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.582+4608G>T|||||||rs483997||1||||||||||||Ensembl||G|G||||chr22:g.27342265G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.839+4608G>T|||||||rs483997||1||||||||||||Ensembl||G|G||||chr22:g.27342265G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.710+6003G>T|||||||rs483997||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27342265G>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA|5/5||XR_938122.2:n.5840G>T||5840|||||rs483997||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27342265G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=99480;gnomADv4_1_AC_joint_XX=51124;gnomADv4_1_AC_joint_XY=48356;gnomADv4_1_AF_grpmax_joint=0.801898;gnomADv4_1_AF_joint=0.656313;gnomADv4_1_AF_joint_XX=0.659171;gnomADv4_1_AF_joint_XY=0.653318;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=151574;gnomADv4_1_AN_joint_XX=77558;gnomADv4_1_AN_joint_XY=74016;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32810;gnomADv4_1_nhomalt_joint_XX=16849;gnomADv4_1_nhomalt_joint_XY=15961;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27343524 chr22_27343524_C_G C G 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=1.488;CADD_Rawscore=0.086013;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+7262C>G|||||||rs5752519||1||||4||||||||Ensembl||C|C||||chr22:g.27343524C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1166+5867C>G|||||||rs5752519||1||||||||||||Ensembl||C|C||||chr22:g.27343524C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.633+7262C>G|||||||rs5752519||1||||||||||||Ensembl||C|C||||chr22:g.27343524C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.482+7262C>G|||||||rs5752519||1||||||||||||Ensembl||C|C||||chr22:g.27343524C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+11586C>G|||||||rs5752519||1||||||||||||Ensembl||C|C||||chr22:g.27343524C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.582+5867C>G|||||||rs5752519||1||||||||||||Ensembl||C|C||||chr22:g.27343524C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.839+5867C>G|||||||rs5752519||1||||||||||||Ensembl||C|C||||chr22:g.27343524C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.710+7262C>G|||||||rs5752519||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27343524C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs5752519|1236|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27343524C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43014;gnomADv4_1_AC_joint_XX=22423;gnomADv4_1_AC_joint_XY=20591;gnomADv4_1_AF_grpmax_joint=0.383752;gnomADv4_1_AF_joint=0.28339;gnomADv4_1_AF_joint_XX=0.288912;gnomADv4_1_AF_joint_XY=0.277611;gnomADv4_1_AN_grpmax_joint=67726;gnomADv4_1_AN_joint=151784;gnomADv4_1_AN_joint_XX=77612;gnomADv4_1_AN_joint_XY=74172;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7028;gnomADv4_1_nhomalt_joint_XX=3757;gnomADv4_1_nhomalt_joint_XY=3271;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27343656 chr22_27343656_A_ATG A ATG 47 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.466;CADDIndel_Rawscore=-0.210904;CSQ=TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+7395_491+7396insGT|||||||rs34222221||1||||4||||||||Ensembl||||||1|chr22:g.27343657_27343658insGT|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1166+6000_1166+6001insGT|||||||rs34222221||1||||||||||||Ensembl||||||1|chr22:g.27343657_27343658insGT|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.633+7395_633+7396insGT|||||||rs34222221||1||||||||||||Ensembl||||||1|chr22:g.27343657_27343658insGT|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.482+7395_482+7396insGT|||||||rs34222221||1||||||||||||Ensembl||||||1|chr22:g.27343657_27343658insGT|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.323+11719_323+11720insGT|||||||rs34222221||1||||||||||||Ensembl||||||1|chr22:g.27343657_27343658insGT|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.582+6000_582+6001insGT|||||||rs34222221||1||||||||||||Ensembl||||||1|chr22:g.27343657_27343658insGT|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.839+6000_839+6001insGT|||||||rs34222221||1||||||||||||Ensembl||||||1|chr22:g.27343657_27343658insGT|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.710+7395_710+7396insGT|||||||rs34222221||1||EntrezGene||||||||||RefSeq||||||1|chr22:g.27343657_27343658insGT|||||||||||||,TG|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs34222221|1368|1||EntrezGene||||||||||RefSeq|||||||chr22:g.27343657_27343658insGT|||||||||||||;TYPE=INDEL;VEP_Allele=TG,TG,TG,TG,TG,TG,TG,TG,TG;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=85566;gnomADv4_1_AC_joint_XX=44172;gnomADv4_1_AC_joint_XY=41394;gnomADv4_1_AF_grpmax_joint=0.797544;gnomADv4_1_AF_joint=0.604886;gnomADv4_1_AF_joint_XX=0.607025;gnomADv4_1_AF_joint_XY=0.60262;gnomADv4_1_AN_grpmax_joint=5048;gnomADv4_1_AN_joint=141458;gnomADv4_1_AN_joint_XX=72768;gnomADv4_1_AN_joint_XY=68690;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=25286;gnomADv4_1_nhomalt_joint_XX=13045;gnomADv4_1_nhomalt_joint_XY=12241;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27344882 chr22_27344882_T_C T C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=2.578;CADD_Rawscore=0.232091;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+8620T>C|||||||rs494702||1||||4||||||||Ensembl||T|T||||chr22:g.27344882T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1166+7225T>C|||||||rs494702||1||||||||||||Ensembl||T|T||||chr22:g.27344882T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.633+8620T>C|||||||rs494702||1||||||||||||Ensembl||T|T||||chr22:g.27344882T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.482+8620T>C|||||||rs494702||1||||||||||||Ensembl||T|T||||chr22:g.27344882T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-12591T>C|||||||rs494702||1||||||||||||Ensembl||T|T||||chr22:g.27344882T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.582+7225T>C|||||||rs494702||1||||||||||||Ensembl||T|T||||chr22:g.27344882T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.839+7225T>C|||||||rs494702||1||||||||||||Ensembl||T|T||||chr22:g.27344882T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.710+8620T>C|||||||rs494702||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27344882T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs494702|2594|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27344882T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60821;gnomADv4_1_AC_joint_XX=30960;gnomADv4_1_AC_joint_XY=29861;gnomADv4_1_AF_grpmax_joint=0.74816;gnomADv4_1_AF_joint=0.399859;gnomADv4_1_AF_joint_XX=0.398271;gnomADv4_1_AF_joint_XY=0.401519;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152106;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13539;gnomADv4_1_nhomalt_joint_XX=6828;gnomADv4_1_nhomalt_joint_XY=6711;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27346324 chr22_27346324_A_AT;chr22_27346324_AT_A A AT 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.886;CADDIndel_Rawscore=-0.049019;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+10076dup|||||||rs60327020||1||||4||||||||Ensembl||||||14|chr22:g.27346338dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1166+8681dup|||||||rs60327020||1||||||||||||Ensembl||||||14|chr22:g.27346338dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.633+10076dup|||||||rs60327020||1||||||||||||Ensembl||||||14|chr22:g.27346338dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.482+10076dup|||||||rs60327020||1||||||||||||Ensembl||||||14|chr22:g.27346338dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-11135dup|||||||rs60327020||1||||||||||||Ensembl||||||14|chr22:g.27346338dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.582+8681dup|||||||rs60327020||1||||||||||||Ensembl||||||14|chr22:g.27346338dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.839+8681dup|||||||rs60327020||1||||||||||||Ensembl||||||14|chr22:g.27346338dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.710+10076dup|||||||rs60327020||1||EntrezGene||||||||||RefSeq||||||14|chr22:g.27346338dup|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs60327020|4036|1||EntrezGene||||||||||RefSeq|||||||chr22:g.27346338dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35667;gnomADv4_1_AC_joint_XX=18722;gnomADv4_1_AC_joint_XY=16945;gnomADv4_1_AF_grpmax_joint=0.329268;gnomADv4_1_AF_joint=0.245127;gnomADv4_1_AF_joint_XX=0.249693;gnomADv4_1_AF_joint_XY=0.240273;gnomADv4_1_AN_grpmax_joint=39436;gnomADv4_1_AN_joint=145504;gnomADv4_1_AN_joint_XX=74980;gnomADv4_1_AN_joint_XY=70524;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4627;gnomADv4_1_nhomalt_joint_XX=2449;gnomADv4_1_nhomalt_joint_XY=2178;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27346324 chr22_27346324_A_AT;chr22_27346324_AT_A AT A 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.718;CADDIndel_Rawscore=-0.102599;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+10076del|||||||rs60327020||1||||4||||||||Ensembl||T|T|||13|chr22:g.27346338del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1166+8681del|||||||rs60327020||1||||||||||||Ensembl||T|T|||13|chr22:g.27346338del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.633+10076del|||||||rs60327020||1||||||||||||Ensembl||T|T|||13|chr22:g.27346338del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.482+10076del|||||||rs60327020||1||||||||||||Ensembl||T|T|||13|chr22:g.27346338del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-11135del|||||||rs60327020||1||||||||||||Ensembl||T|T|||13|chr22:g.27346338del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.582+8681del|||||||rs60327020||1||||||||||||Ensembl||T|T|||13|chr22:g.27346338del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.839+8681del|||||||rs60327020||1||||||||||||Ensembl||T|T|||13|chr22:g.27346338del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.710+10076del|||||||rs60327020||1||EntrezGene||||||||||RefSeq||T|T|||13|chr22:g.27346338del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs60327020|4037|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27346338del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19261;gnomADv4_1_AC_joint_XX=9498;gnomADv4_1_AC_joint_XY=9763;gnomADv4_1_AF_grpmax_joint=0.231192;gnomADv4_1_AF_joint=0.13246;gnomADv4_1_AF_joint_XX=0.126775;gnomADv4_1_AF_joint_XY=0.138502;gnomADv4_1_AN_grpmax_joint=4546;gnomADv4_1_AN_joint=145410;gnomADv4_1_AN_joint_XX=74920;gnomADv4_1_AN_joint_XY=70490;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1241;gnomADv4_1_nhomalt_joint_XX=572;gnomADv4_1_nhomalt_joint_XY=669;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27346389 chr22_27346389_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.643;CADD_Rawscore=-0.130195;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+10127C>T|||||||rs555485||1||||4||||||||Ensembl||C|C||||chr22:g.27346389C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1166+8732C>T|||||||rs555485||1||||||||||||Ensembl||C|C||||chr22:g.27346389C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.633+10127C>T|||||||rs555485||1||||||||||||Ensembl||C|C||||chr22:g.27346389C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.482+10127C>T|||||||rs555485||1||||||||||||Ensembl||C|C||||chr22:g.27346389C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-11084C>T|||||||rs555485||1||||||||||||Ensembl||C|C||||chr22:g.27346389C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.582+8732C>T|||||||rs555485||1||||||||||||Ensembl||C|C||||chr22:g.27346389C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.839+8732C>T|||||||rs555485||1||||||||||||Ensembl||C|C||||chr22:g.27346389C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.710+10127C>T|||||||rs555485||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27346389C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs555485|4101|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27346389C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34089;gnomADv4_1_AC_joint_XX=17764;gnomADv4_1_AC_joint_XY=16325;gnomADv4_1_AF_grpmax_joint=0.267377;gnomADv4_1_AF_joint=0.225531;gnomADv4_1_AF_joint_XX=0.229622;gnomADv4_1_AF_joint_XY=0.221242;gnomADv4_1_AN_grpmax_joint=41088;gnomADv4_1_AN_joint=151150;gnomADv4_1_AN_joint_XX=77362;gnomADv4_1_AN_joint_XY=73788;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4004;gnomADv4_1_nhomalt_joint_XX=2112;gnomADv4_1_nhomalt_joint_XY=1892;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27346657 chr22_27346657_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.676;CADD_Rawscore=-0.117507;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+10395C>T|||||||rs553327||1||||4||||||||Ensembl||C|C||||chr22:g.27346657C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1166+9000C>T|||||||rs553327||1||||||||||||Ensembl||C|C||||chr22:g.27346657C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.633+10395C>T|||||||rs553327||1||||||||||||Ensembl||C|C||||chr22:g.27346657C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.482+10395C>T|||||||rs553327||1||||||||||||Ensembl||C|C||||chr22:g.27346657C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-10816C>T|||||||rs553327||1||||||||||||Ensembl||C|C||||chr22:g.27346657C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.582+9000C>T|||||||rs553327||1||||||||||||Ensembl||C|C||||chr22:g.27346657C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.839+9000C>T|||||||rs553327||1||||||||||||Ensembl||C|C||||chr22:g.27346657C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.710+10395C>T|||||||rs553327||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27346657C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs553327|4369|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27346657C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74823;gnomADv4_1_AC_joint_XX=38517;gnomADv4_1_AC_joint_XY=36306;gnomADv4_1_AF_grpmax_joint=0.551724;gnomADv4_1_AF_joint=0.492321;gnomADv4_1_AF_joint_XX=0.495829;gnomADv4_1_AF_joint_XY=0.488654;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=151980;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=18645;gnomADv4_1_nhomalt_joint_XX=9633;gnomADv4_1_nhomalt_joint_XY=9012;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27346771 chr22_27346771_C_T C T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.488;CADD_Rawscore=-0.199329;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+10509C>T|||||||rs849357||1||||4||||||||Ensembl||C|C||||chr22:g.27346771C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1166+9114C>T|||||||rs849357||1||||||||||||Ensembl||C|C||||chr22:g.27346771C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.633+10509C>T|||||||rs849357||1||||||||||||Ensembl||C|C||||chr22:g.27346771C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.482+10509C>T|||||||rs849357||1||||||||||||Ensembl||C|C||||chr22:g.27346771C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-10702C>T|||||||rs849357||1||||||||||||Ensembl||C|C||||chr22:g.27346771C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.582+9114C>T|||||||rs849357||1||||||||||||Ensembl||C|C||||chr22:g.27346771C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.839+9114C>T|||||||rs849357||1||||||||||||Ensembl||C|C||||chr22:g.27346771C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.710+10509C>T|||||||rs849357||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27346771C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs849357|4483|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27346771C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=109283;gnomADv4_1_AC_joint_XX=55399;gnomADv4_1_AC_joint_XY=53884;gnomADv4_1_AF_grpmax_joint=0.95122;gnomADv4_1_AF_joint=0.718353;gnomADv4_1_AF_joint_XX=0.712344;gnomADv4_1_AF_joint_XY=0.724637;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=40322;gnomADv4_1_nhomalt_joint_XX=20339;gnomADv4_1_nhomalt_joint_XY=19983;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27347063 chr22_27347063_GA_G GA G 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=2.897;CADDIndel_Rawscore=0.264543;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+10809del|||||||rs10717628||1||||4||||||||Ensembl||A|A|||7|chr22:g.27347071del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1166+9414del|||||||rs10717628||1||||||||||||Ensembl||A|A|||7|chr22:g.27347071del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-10402del|||||||rs10717628||1||||||||||||Ensembl||A|A|||7|chr22:g.27347071del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-10402del|||||||rs10717628||1||||||||||||Ensembl||A|A|||7|chr22:g.27347071del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-10402del|||||||rs10717628||1||||||||||||Ensembl||A|A|||7|chr22:g.27347071del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.582+9414del|||||||rs10717628||1||||||||||||Ensembl||A|A|||7|chr22:g.27347071del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.839+9414del|||||||rs10717628||1||||||||||||Ensembl||A|A|||7|chr22:g.27347071del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-10402del|||||||rs10717628||1||EntrezGene||||||||||RefSeq||A|A|||7|chr22:g.27347071del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs10717628|4776|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27347071del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42586;gnomADv4_1_AC_joint_XX=22113;gnomADv4_1_AC_joint_XY=20473;gnomADv4_1_AF_grpmax_joint=0.41249;gnomADv4_1_AF_joint=0.286031;gnomADv4_1_AF_joint_XX=0.289308;gnomADv4_1_AF_joint_XY=0.282573;gnomADv4_1_AN_grpmax_joint=40738;gnomADv4_1_AN_joint=148886;gnomADv4_1_AN_joint_XX=76434;gnomADv4_1_AN_joint_XY=72452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6531;gnomADv4_1_nhomalt_joint_XX=3407;gnomADv4_1_nhomalt_joint_XY=3124;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27347091 chr22_27347091_GA_G GA G 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.027;CADDIndel_Rawscore=-0.968266;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+10838del|||||||rs60823671||1||||4||||||||Ensembl||A|A|||8|chr22:g.27347100del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1166+9443del|||||||rs60823671||1||||||||||||Ensembl||A|A|||8|chr22:g.27347100del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-10373del|||||||rs60823671||1||||||||||||Ensembl||A|A|||8|chr22:g.27347100del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-10373del|||||||rs60823671||1||||||||||||Ensembl||A|A|||8|chr22:g.27347100del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-10373del|||||||rs60823671||1||||||||||||Ensembl||A|A|||8|chr22:g.27347100del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.582+9443del|||||||rs60823671||1||||||||||||Ensembl||A|A|||8|chr22:g.27347100del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.839+9443del|||||||rs60823671||1||||||||||||Ensembl||A|A|||8|chr22:g.27347100del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-10373del|||||||rs60823671||1||EntrezGene||||||||||RefSeq||A|A|||8|chr22:g.27347100del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_938122.2|lncRNA||||||||||rs60823671|4804|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27347100del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4,XR_938122.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31782;gnomADv4_1_AC_joint_XX=15522;gnomADv4_1_AC_joint_XY=16260;gnomADv4_1_AF_grpmax_joint=0.660721;gnomADv4_1_AF_joint=0.210854;gnomADv4_1_AF_joint_XX=0.201229;gnomADv4_1_AF_joint_XY=0.220942;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=150730;gnomADv4_1_AN_joint_XX=77136;gnomADv4_1_AN_joint_XY=73594;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4132;gnomADv4_1_nhomalt_joint_XX=1926;gnomADv4_1_nhomalt_joint_XY=2206;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27348038 chr22_27348038_T_C T C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=4.859;CADD_Rawscore=0.442726;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+11776T>C|||||||rs13057697||1||||4||||||||Ensembl||T|T||||chr22:g.27348038T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-9435T>C|||||||rs13057697||1||||||||||||Ensembl||T|T||||chr22:g.27348038T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-9435T>C|||||||rs13057697||1||||||||||||Ensembl||T|T||||chr22:g.27348038T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-9435T>C|||||||rs13057697||1||||||||||||Ensembl||T|T||||chr22:g.27348038T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-9435T>C|||||||rs13057697||1||||||||||||Ensembl||T|T||||chr22:g.27348038T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-9435T>C|||||||rs13057697||1||||||||||||Ensembl||T|T||||chr22:g.27348038T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-9435T>C|||||||rs13057697||1||||||||||||Ensembl||T|T||||chr22:g.27348038T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-9435T>C|||||||rs13057697||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27348038T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=51520;gnomADv4_1_AC_joint_XX=26687;gnomADv4_1_AC_joint_XY=24833;gnomADv4_1_AF_grpmax_joint=0.459547;gnomADv4_1_AF_joint=0.338622;gnomADv4_1_AF_joint_XX=0.343065;gnomADv4_1_AF_joint_XY=0.333974;gnomADv4_1_AN_grpmax_joint=67980;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10200;gnomADv4_1_nhomalt_joint_XX=5352;gnomADv4_1_nhomalt_joint_XY=4848;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27348647 chr22_27348647_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.239;CADD_Rawscore=0.19397;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+12385G>A|||||||rs1401525||1||||4||||||||Ensembl||G|G||||chr22:g.27348647G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-8826G>A|||||||rs1401525||1||||||||||||Ensembl||G|G||||chr22:g.27348647G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-8826G>A|||||||rs1401525||1||||||||||||Ensembl||G|G||||chr22:g.27348647G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-8826G>A|||||||rs1401525||1||||||||||||Ensembl||G|G||||chr22:g.27348647G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-8826G>A|||||||rs1401525||1||||||||||||Ensembl||G|G||||chr22:g.27348647G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-8826G>A|||||||rs1401525||1||||||||||||Ensembl||G|G||||chr22:g.27348647G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-8826G>A|||||||rs1401525||1||||||||||||Ensembl||G|G||||chr22:g.27348647G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-8826G>A|||||||rs1401525||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27348647G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28270;gnomADv4_1_AC_joint_XX=14715;gnomADv4_1_AC_joint_XY=13555;gnomADv4_1_AF_grpmax_joint=0.242706;gnomADv4_1_AF_joint=0.185764;gnomADv4_1_AF_joint_XX=0.189178;gnomADv4_1_AF_joint_XY=0.182196;gnomADv4_1_AN_grpmax_joint=68004;gnomADv4_1_AN_joint=152182;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2935;gnomADv4_1_nhomalt_joint_XX=1609;gnomADv4_1_nhomalt_joint_XY=1326;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27348998 chr22_27348998_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=4.036;CADD_Rawscore=0.368383;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+12736G>A|||||||rs73153985||1||||4||||||||Ensembl||G|G||||chr22:g.27348998G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-8475G>A|||||||rs73153985||1||||||||||||Ensembl||G|G||||chr22:g.27348998G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-8475G>A|||||||rs73153985||1||||||||||||Ensembl||G|G||||chr22:g.27348998G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-8475G>A|||||||rs73153985||1||||||||||||Ensembl||G|G||||chr22:g.27348998G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-8475G>A|||||||rs73153985||1||||||||||||Ensembl||G|G||||chr22:g.27348998G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-8475G>A|||||||rs73153985||1||||||||||||Ensembl||G|G||||chr22:g.27348998G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-8475G>A|||||||rs73153985||1||||||||||||Ensembl||G|G||||chr22:g.27348998G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-8475G>A|||||||rs73153985||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27348998G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26617;gnomADv4_1_AC_joint_XX=13863;gnomADv4_1_AC_joint_XY=12754;gnomADv4_1_AF_grpmax_joint=0.232088;gnomADv4_1_AF_joint=0.174852;gnomADv4_1_AF_joint_XX=0.178142;gnomADv4_1_AF_joint_XY=0.171411;gnomADv4_1_AN_grpmax_joint=68000;gnomADv4_1_AN_joint=152226;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2608;gnomADv4_1_nhomalt_joint_XX=1428;gnomADv4_1_nhomalt_joint_XY=1180;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27349597 chr22_27349597_C_CCTT C CCTT 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.467;CADDIndel_Rawscore=-0.21036;CSQ=CTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+13338_491+13340dup|||||||rs3041708||1||||4||||||||Ensembl||||||5|chr22:g.27349600_27349602dup|||||||||||||,CTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-7873_1167-7871dup|||||||rs3041708||1||||||||||||Ensembl||||||5|chr22:g.27349600_27349602dup|||||||||||||,CTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-7873_634-7871dup|||||||rs3041708||1||||||||||||Ensembl||||||5|chr22:g.27349600_27349602dup|||||||||||||,CTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-7873_483-7871dup|||||||rs3041708||1||||||||||||Ensembl||||||5|chr22:g.27349600_27349602dup|||||||||||||,CTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-7873_324-7871dup|||||||rs3041708||1||||||||||||Ensembl||||||5|chr22:g.27349600_27349602dup|||||||||||||,CTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-7873_583-7871dup|||||||rs3041708||1||||||||||||Ensembl||||||5|chr22:g.27349600_27349602dup|||||||||||||,CTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-7873_840-7871dup|||||||rs3041708||1||||||||||||Ensembl||||||5|chr22:g.27349600_27349602dup|||||||||||||,CTT|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-7873_711-7871dup|||||||rs3041708||1||EntrezGene||||||||||RefSeq||||||5|chr22:g.27349600_27349602dup|||||||||||||;TYPE=INDEL;VEP_Allele=CTT,CTT,CTT,CTT,CTT,CTT,CTT,CTT;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61714;gnomADv4_1_AC_joint_XX=31484;gnomADv4_1_AC_joint_XY=30230;gnomADv4_1_AF_grpmax_joint=0.555945;gnomADv4_1_AF_joint=0.406811;gnomADv4_1_AF_joint_XX=0.405722;gnomADv4_1_AF_joint_XY=0.407951;gnomADv4_1_AN_grpmax_joint=5130;gnomADv4_1_AN_joint=151702;gnomADv4_1_AN_joint_XX=77600;gnomADv4_1_AN_joint_XY=74102;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12787;gnomADv4_1_nhomalt_joint_XX=6571;gnomADv4_1_nhomalt_joint_XY=6216;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27349647 chr22_27349647_T_C T C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.992;CADD_Rawscore=-0.019873;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+13385T>C|||||||rs573338||1||||4||||||||Ensembl||T|T||||chr22:g.27349647T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-7826T>C|||||||rs573338||1||||||||||||Ensembl||T|T||||chr22:g.27349647T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-7826T>C|||||||rs573338||1||||||||||||Ensembl||T|T||||chr22:g.27349647T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-7826T>C|||||||rs573338||1||||||||||||Ensembl||T|T||||chr22:g.27349647T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-7826T>C|||||||rs573338||1||||||||||||Ensembl||T|T||||chr22:g.27349647T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-7826T>C|||||||rs573338||1||||||||||||Ensembl||T|T||||chr22:g.27349647T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-7826T>C|||||||rs573338||1||||||||||||Ensembl||T|T||||chr22:g.27349647T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-7826T>C|||||||rs573338||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27349647T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61948;gnomADv4_1_AC_joint_XX=31588;gnomADv4_1_AC_joint_XY=30360;gnomADv4_1_AF_grpmax_joint=0.557409;gnomADv4_1_AF_joint=0.407596;gnomADv4_1_AF_joint_XX=0.406528;gnomADv4_1_AF_joint_XY=0.408713;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151984;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12885;gnomADv4_1_nhomalt_joint_XX=6617;gnomADv4_1_nhomalt_joint_XY=6268;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27349664 chr22_27349664_C_A C A 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=3.809;CADD_Rawscore=0.348319;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+13402C>A|||||||rs533794||1||||4||||||||Ensembl||C|C||||chr22:g.27349664C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-7809C>A|||||||rs533794||1||||||||||||Ensembl||C|C||||chr22:g.27349664C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-7809C>A|||||||rs533794||1||||||||||||Ensembl||C|C||||chr22:g.27349664C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-7809C>A|||||||rs533794||1||||||||||||Ensembl||C|C||||chr22:g.27349664C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-7809C>A|||||||rs533794||1||||||||||||Ensembl||C|C||||chr22:g.27349664C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-7809C>A|||||||rs533794||1||||||||||||Ensembl||C|C||||chr22:g.27349664C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-7809C>A|||||||rs533794||1||||||||||||Ensembl||C|C||||chr22:g.27349664C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-7809C>A|||||||rs533794||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27349664C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29080;gnomADv4_1_AC_joint_XX=14590;gnomADv4_1_AC_joint_XY=14490;gnomADv4_1_AF_grpmax_joint=0.317267;gnomADv4_1_AF_joint=0.19127;gnomADv4_1_AF_joint_XX=0.187793;gnomADv4_1_AF_joint_XY=0.194905;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152036;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3213;gnomADv4_1_nhomalt_joint_XX=1603;gnomADv4_1_nhomalt_joint_XY=1610;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27350157 chr22_27350157_T_G T G 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=6.123;CADD_Rawscore=0.565642;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+13895T>G|||||||rs1016895||1||||4||||||||Ensembl||T|T||||chr22:g.27350157T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-7316T>G|||||||rs1016895||1||||||||||||Ensembl||T|T||||chr22:g.27350157T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-7316T>G|||||||rs1016895||1||||||||||||Ensembl||T|T||||chr22:g.27350157T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-7316T>G|||||||rs1016895||1||||||||||||Ensembl||T|T||||chr22:g.27350157T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-7316T>G|||||||rs1016895||1||||||||||||Ensembl||T|T||||chr22:g.27350157T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-7316T>G|||||||rs1016895||1||||||||||||Ensembl||T|T||||chr22:g.27350157T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-7316T>G|||||||rs1016895||1||||||||||||Ensembl||T|T||||chr22:g.27350157T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-7316T>G|||||||rs1016895||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27350157T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26589;gnomADv4_1_AC_joint_XX=13867;gnomADv4_1_AC_joint_XY=12722;gnomADv4_1_AF_grpmax_joint=0.232221;gnomADv4_1_AF_joint=0.174755;gnomADv4_1_AF_joint_XX=0.178317;gnomADv4_1_AF_joint_XY=0.171031;gnomADv4_1_AN_grpmax_joint=67974;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2606;gnomADv4_1_nhomalt_joint_XX=1430;gnomADv4_1_nhomalt_joint_XY=1176;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27350678 chr22_27350678_T_C;chr22_27350678_T_G T C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=12.72;CADD_Rawscore=1.27298;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+14416T>C|||||||rs542954||1||||4||||||||Ensembl||T|T||||chr22:g.27350678T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-6795T>C|||||||rs542954||1||||||||||||Ensembl||T|T||||chr22:g.27350678T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-6795T>C|||||||rs542954||1||||||||||||Ensembl||T|T||||chr22:g.27350678T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-6795T>C|||||||rs542954||1||||||||||||Ensembl||T|T||||chr22:g.27350678T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-6795T>C|||||||rs542954||1||||||||||||Ensembl||T|T||||chr22:g.27350678T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-6795T>C|||||||rs542954||1||||||||||||Ensembl||T|T||||chr22:g.27350678T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-6795T>C|||||||rs542954||1||||||||||||Ensembl||T|T||||chr22:g.27350678T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-6795T>C|||||||rs542954||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27350678T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30012;gnomADv4_1_AC_joint_XX=15645;gnomADv4_1_AC_joint_XY=14367;gnomADv4_1_AF_grpmax_joint=0.242974;gnomADv4_1_AF_joint=0.197395;gnomADv4_1_AF_joint_XX=0.201268;gnomADv4_1_AF_joint_XY=0.193344;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3151;gnomADv4_1_nhomalt_joint_XX=1714;gnomADv4_1_nhomalt_joint_XY=1437;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27350678 chr22_27350678_T_C;chr22_27350678_T_G T G 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=12.52;CADD_Rawscore=1.24474;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+14416T>G|||||||rs542954||1||||4||||||||Ensembl||T|T||||chr22:g.27350678T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-6795T>G|||||||rs542954||1||||||||||||Ensembl||T|T||||chr22:g.27350678T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-6795T>G|||||||rs542954||1||||||||||||Ensembl||T|T||||chr22:g.27350678T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-6795T>G|||||||rs542954||1||||||||||||Ensembl||T|T||||chr22:g.27350678T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-6795T>G|||||||rs542954||1||||||||||||Ensembl||T|T||||chr22:g.27350678T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-6795T>G|||||||rs542954||1||||||||||||Ensembl||T|T||||chr22:g.27350678T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-6795T>G|||||||rs542954||1||||||||||||Ensembl||T|T||||chr22:g.27350678T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-6795T>G|||||||rs542954||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27350678T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29103;gnomADv4_1_AC_joint_XX=14606;gnomADv4_1_AC_joint_XY=14497;gnomADv4_1_AF_grpmax_joint=0.318815;gnomADv4_1_AF_joint=0.191429;gnomADv4_1_AF_joint_XX=0.187931;gnomADv4_1_AF_joint_XY=0.195088;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152030;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3218;gnomADv4_1_nhomalt_joint_XX=1611;gnomADv4_1_nhomalt_joint_XY=1607;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27350945 chr22_27350945_A_G A G 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.219;CADD_Rawscore=-0.403088;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+14683A>G|||||||rs6005382||1||||4||||||||Ensembl||A|A||||chr22:g.27350945A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-6528A>G|||||||rs6005382||1||||||||||||Ensembl||A|A||||chr22:g.27350945A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-6528A>G|||||||rs6005382||1||||||||||||Ensembl||A|A||||chr22:g.27350945A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-6528A>G|||||||rs6005382||1||||||||||||Ensembl||A|A||||chr22:g.27350945A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-6528A>G|||||||rs6005382||1||||||||||||Ensembl||A|A||||chr22:g.27350945A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-6528A>G|||||||rs6005382||1||||||||||||Ensembl||A|A||||chr22:g.27350945A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-6528A>G|||||||rs6005382||1||||||||||||Ensembl||A|A||||chr22:g.27350945A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-6528A>G|||||||rs6005382||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27350945A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58197;gnomADv4_1_AC_joint_XX=30335;gnomADv4_1_AC_joint_XY=27862;gnomADv4_1_AF_grpmax_joint=0.489796;gnomADv4_1_AF_joint=0.382664;gnomADv4_1_AF_joint_XX=0.390251;gnomADv4_1_AF_joint_XY=0.374731;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11517;gnomADv4_1_nhomalt_joint_XX=6101;gnomADv4_1_nhomalt_joint_XY=5416;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27351163 chr22_27351163_T_C T C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=18.21;CADD_Rawscore=2.32061;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+14901T>C|||||||rs16984375||1||||4||||||||Ensembl||T|T||||chr22:g.27351163T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-6310T>C|||||||rs16984375||1||||||||||||Ensembl||T|T||||chr22:g.27351163T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-6310T>C|||||||rs16984375||1||||||||||||Ensembl||T|T||||chr22:g.27351163T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-6310T>C|||||||rs16984375||1||||||||||||Ensembl||T|T||||chr22:g.27351163T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-6310T>C|||||||rs16984375||1||||||||||||Ensembl||T|T||||chr22:g.27351163T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-6310T>C|||||||rs16984375||1||||||||||||Ensembl||T|T||||chr22:g.27351163T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-6310T>C|||||||rs16984375||1||||||||||||Ensembl||T|T||||chr22:g.27351163T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-6310T>C|||||||rs16984375||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27351163T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26613;gnomADv4_1_AC_joint_XX=13870;gnomADv4_1_AC_joint_XY=12743;gnomADv4_1_AF_grpmax_joint=0.232144;gnomADv4_1_AF_joint=0.174775;gnomADv4_1_AF_joint_XX=0.17825;gnomADv4_1_AF_joint_XY=0.171143;gnomADv4_1_AN_grpmax_joint=68018;gnomADv4_1_AN_joint=152270;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74458;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2606;gnomADv4_1_nhomalt_joint_XX=1428;gnomADv4_1_nhomalt_joint_XY=1178;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27351290 chr22_27351290_A_G A G 60 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=6.546;CADD_Rawscore=0.609514;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+15028A>G|||||||rs10483134||1||||4||||||||Ensembl||A|A||||chr22:g.27351290A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-6183A>G|||||||rs10483134||1||||||||||||Ensembl||A|A||||chr22:g.27351290A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-6183A>G|||||||rs10483134||1||||||||||||Ensembl||A|A||||chr22:g.27351290A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-6183A>G|||||||rs10483134||1||||||||||||Ensembl||A|A||||chr22:g.27351290A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-6183A>G|||||||rs10483134||1||||||||||||Ensembl||A|A||||chr22:g.27351290A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-6183A>G|||||||rs10483134||1||||||||||||Ensembl||A|A||||chr22:g.27351290A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-6183A>G|||||||rs10483134||1||||||||||||Ensembl||A|A||||chr22:g.27351290A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-6183A>G|||||||rs10483134||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27351290A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26566;gnomADv4_1_AC_joint_XX=13860;gnomADv4_1_AC_joint_XY=12706;gnomADv4_1_AF_grpmax_joint=0.231906;gnomADv4_1_AF_joint=0.174588;gnomADv4_1_AF_joint_XX=0.178177;gnomADv4_1_AF_joint_XY=0.170835;gnomADv4_1_AN_grpmax_joint=67980;gnomADv4_1_AN_joint=152164;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2590;gnomADv4_1_nhomalt_joint_XX=1422;gnomADv4_1_nhomalt_joint_XY=1168;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27351309 chr22_27351309_G_A G A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=13.67;CADD_Rawscore=1.41581;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+15047G>A|||||||rs569626||1||||4||||||||Ensembl||G|G||||chr22:g.27351309G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-6164G>A|||||||rs569626||1||||||||||||Ensembl||G|G||||chr22:g.27351309G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-6164G>A|||||||rs569626||1||||||||||||Ensembl||G|G||||chr22:g.27351309G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-6164G>A|||||||rs569626||1||||||||||||Ensembl||G|G||||chr22:g.27351309G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-6164G>A|||||||rs569626||1||||||||||||Ensembl||G|G||||chr22:g.27351309G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-6164G>A|||||||rs569626||1||||||||||||Ensembl||G|G||||chr22:g.27351309G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-6164G>A|||||||rs569626||1||||||||||||Ensembl||G|G||||chr22:g.27351309G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-6164G>A|||||||rs569626||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27351309G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88894;gnomADv4_1_AC_joint_XX=45844;gnomADv4_1_AC_joint_XY=43050;gnomADv4_1_AF_grpmax_joint=0.70357;gnomADv4_1_AF_joint=0.584975;gnomADv4_1_AF_joint_XX=0.589907;gnomADv4_1_AF_joint_XY=0.579814;gnomADv4_1_AN_grpmax_joint=41460;gnomADv4_1_AN_joint=151962;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26575;gnomADv4_1_nhomalt_joint_XX=13821;gnomADv4_1_nhomalt_joint_XY=12754;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27351342 chr22_27351342_C_T C T 56 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.078;CADD_Rawscore=-0.677698;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+15080C>T|||||||rs16984383||1||||4||||||||Ensembl||C|C||||chr22:g.27351342C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-6131C>T|||||||rs16984383||1||||||||||||Ensembl||C|C||||chr22:g.27351342C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-6131C>T|||||||rs16984383||1||||||||||||Ensembl||C|C||||chr22:g.27351342C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-6131C>T|||||||rs16984383||1||||||||||||Ensembl||C|C||||chr22:g.27351342C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-6131C>T|||||||rs16984383||1||||||||||||Ensembl||C|C||||chr22:g.27351342C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-6131C>T|||||||rs16984383||1||||||||||||Ensembl||C|C||||chr22:g.27351342C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-6131C>T|||||||rs16984383||1||||||||||||Ensembl||C|C||||chr22:g.27351342C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-6131C>T|||||||rs16984383||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27351342C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26560;gnomADv4_1_AC_joint_XX=13856;gnomADv4_1_AC_joint_XY=12704;gnomADv4_1_AF_grpmax_joint=0.232082;gnomADv4_1_AF_joint=0.174785;gnomADv4_1_AF_joint_XX=0.17829;gnomADv4_1_AF_joint_XY=0.171116;gnomADv4_1_AN_grpmax_joint=67950;gnomADv4_1_AN_joint=151958;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2595;gnomADv4_1_nhomalt_joint_XX=1427;gnomADv4_1_nhomalt_joint_XY=1168;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27351417 chr22_27351417_AT_A AT A 54 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=0.68;CADDIndel_Rawscore=-0.116316;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+15158del|||||||rs146006497||1||||4||||||||Ensembl||T|T|||2|chr22:g.27351420del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-6053del|||||||rs146006497||1||||||||||||Ensembl||T|T|||2|chr22:g.27351420del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-6053del|||||||rs146006497||1||||||||||||Ensembl||T|T|||2|chr22:g.27351420del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-6053del|||||||rs146006497||1||||||||||||Ensembl||T|T|||2|chr22:g.27351420del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-6053del|||||||rs146006497||1||||||||||||Ensembl||T|T|||2|chr22:g.27351420del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-6053del|||||||rs146006497||1||||||||||||Ensembl||T|T|||2|chr22:g.27351420del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-6053del|||||||rs146006497||1||||||||||||Ensembl||T|T|||2|chr22:g.27351420del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-6053del|||||||rs146006497||1||EntrezGene||||||||||RefSeq||T|T|||2|chr22:g.27351420del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29952;gnomADv4_1_AC_joint_XX=15626;gnomADv4_1_AC_joint_XY=14326;gnomADv4_1_AF_grpmax_joint=0.242819;gnomADv4_1_AF_joint=0.197092;gnomADv4_1_AF_joint_XX=0.20105;gnomADv4_1_AF_joint_XY=0.192948;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=151970;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3136;gnomADv4_1_nhomalt_joint_XX=1710;gnomADv4_1_nhomalt_joint_XY=1426;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27351546 chr22_27351546_A_T A T 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.424;CADD_Rawscore=-0.234371;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+15284A>T|||||||rs111248555||1||||4||||||||Ensembl||A|A||||chr22:g.27351546A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-5927A>T|||||||rs111248555||1||||||||||||Ensembl||A|A||||chr22:g.27351546A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-5927A>T|||||||rs111248555||1||||||||||||Ensembl||A|A||||chr22:g.27351546A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-5927A>T|||||||rs111248555||1||||||||||||Ensembl||A|A||||chr22:g.27351546A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-5927A>T|||||||rs111248555||1||||||||||||Ensembl||A|A||||chr22:g.27351546A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-5927A>T|||||||rs111248555||1||||||||||||Ensembl||A|A||||chr22:g.27351546A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-5927A>T|||||||rs111248555||1||||||||||||Ensembl||A|A||||chr22:g.27351546A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-5927A>T|||||||rs111248555||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27351546A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26445;gnomADv4_1_AC_joint_XX=13808;gnomADv4_1_AC_joint_XY=12637;gnomADv4_1_AF_grpmax_joint=0.232788;gnomADv4_1_AF_joint=0.176136;gnomADv4_1_AF_joint_XX=0.179371;gnomADv4_1_AF_joint_XY=0.172731;gnomADv4_1_AN_grpmax_joint=67628;gnomADv4_1_AN_joint=150140;gnomADv4_1_AN_joint_XX=76980;gnomADv4_1_AN_joint_XY=73160;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2590;gnomADv4_1_nhomalt_joint_XX=1424;gnomADv4_1_nhomalt_joint_XY=1166;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27351619 chr22_27351619_T_C T C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.114;CADD_Rawscore=0.010302;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+15357T>C|||||||rs150754829||1||||4||||||||Ensembl||T|T||||chr22:g.27351619T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-5854T>C|||||||rs150754829||1||||||||||||Ensembl||T|T||||chr22:g.27351619T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-5854T>C|||||||rs150754829||1||||||||||||Ensembl||T|T||||chr22:g.27351619T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-5854T>C|||||||rs150754829||1||||||||||||Ensembl||T|T||||chr22:g.27351619T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-5854T>C|||||||rs150754829||1||||||||||||Ensembl||T|T||||chr22:g.27351619T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-5854T>C|||||||rs150754829||1||||||||||||Ensembl||T|T||||chr22:g.27351619T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-5854T>C|||||||rs150754829||1||||||||||||Ensembl||T|T||||chr22:g.27351619T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-5854T>C|||||||rs150754829||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27351619T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26550;gnomADv4_1_AC_joint_XX=13843;gnomADv4_1_AC_joint_XY=12707;gnomADv4_1_AF_grpmax_joint=0.232131;gnomADv4_1_AF_joint=0.174876;gnomADv4_1_AF_joint_XX=0.178238;gnomADv4_1_AF_joint_XY=0.171355;gnomADv4_1_AN_grpmax_joint=67910;gnomADv4_1_AN_joint=151822;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=74156;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2607;gnomADv4_1_nhomalt_joint_XX=1426;gnomADv4_1_nhomalt_joint_XY=1181;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27352059 chr22_27352059_ATG_A ATG A 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.308;CADDIndel_Rawscore=-0.315633;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+15800_491+15801del|||||||rs71736425||1||||4||||||||Ensembl||TG|TG|||2|chr22:g.27352062_27352063del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-5411_1167-5410del|||||||rs71736425||1||||||||||||Ensembl||TG|TG|||2|chr22:g.27352062_27352063del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-5411_634-5410del|||||||rs71736425||1||||||||||||Ensembl||TG|TG|||2|chr22:g.27352062_27352063del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-5411_483-5410del|||||||rs71736425||1||||||||||||Ensembl||TG|TG|||2|chr22:g.27352062_27352063del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-5411_324-5410del|||||||rs71736425||1||||||||||||Ensembl||TG|TG|||2|chr22:g.27352062_27352063del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-5411_583-5410del|||||||rs71736425||1||||||||||||Ensembl||TG|TG|||2|chr22:g.27352062_27352063del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-5411_840-5410del|||||||rs71736425||1||||||||||||Ensembl||TG|TG|||2|chr22:g.27352062_27352063del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-5411_711-5410del|||||||rs71736425||1||EntrezGene||||||||||RefSeq||TG|TG|||2|chr22:g.27352062_27352063del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26552;gnomADv4_1_AC_joint_XX=13848;gnomADv4_1_AC_joint_XY=12704;gnomADv4_1_AF_grpmax_joint=0.231814;gnomADv4_1_AF_joint=0.174572;gnomADv4_1_AF_joint_XX=0.178105;gnomADv4_1_AF_joint_XY=0.170877;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2590;gnomADv4_1_nhomalt_joint_XX=1421;gnomADv4_1_nhomalt_joint_XY=1169;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27352781 chr22_27352781_A_G A G 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.254;CADD_Rawscore=0.041231;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+16519A>G|||||||rs7511351||1||||4||||||||Ensembl||A|A||||chr22:g.27352781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-4692A>G|||||||rs7511351||1||||||||||||Ensembl||A|A||||chr22:g.27352781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-4692A>G|||||||rs7511351||1||||||||||||Ensembl||A|A||||chr22:g.27352781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-4692A>G|||||||rs7511351||1||||||||||||Ensembl||A|A||||chr22:g.27352781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-4692A>G|||||||rs7511351||1||||||||||||Ensembl||A|A||||chr22:g.27352781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-4692A>G|||||||rs7511351||1||||||||||||Ensembl||A|A||||chr22:g.27352781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-4692A>G|||||||rs7511351||1||||||||||||Ensembl||A|A||||chr22:g.27352781A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-4692A>G|||||||rs7511351||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27352781A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31033;gnomADv4_1_AC_joint_XX=16215;gnomADv4_1_AC_joint_XY=14818;gnomADv4_1_AF_grpmax_joint=0.241853;gnomADv4_1_AF_joint=0.204259;gnomADv4_1_AF_joint_XX=0.208687;gnomADv4_1_AF_joint_XY=0.199623;gnomADv4_1_AN_grpmax_joint=67880;gnomADv4_1_AN_joint=151930;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3303;gnomADv4_1_nhomalt_joint_XX=1825;gnomADv4_1_nhomalt_joint_XY=1478;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27352792 chr22_27352792_T_C T C 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.643;CADD_Rawscore=-0.130397;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+16530T>C|||||||rs56240853||1||||4||||||||Ensembl||T|T||||chr22:g.27352792T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-4681T>C|||||||rs56240853||1||||||||||||Ensembl||T|T||||chr22:g.27352792T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-4681T>C|||||||rs56240853||1||||||||||||Ensembl||T|T||||chr22:g.27352792T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-4681T>C|||||||rs56240853||1||||||||||||Ensembl||T|T||||chr22:g.27352792T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-4681T>C|||||||rs56240853||1||||||||||||Ensembl||T|T||||chr22:g.27352792T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-4681T>C|||||||rs56240853||1||||||||||||Ensembl||T|T||||chr22:g.27352792T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-4681T>C|||||||rs56240853||1||||||||||||Ensembl||T|T||||chr22:g.27352792T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-4681T>C|||||||rs56240853||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27352792T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31017;gnomADv4_1_AC_joint_XX=16205;gnomADv4_1_AC_joint_XY=14812;gnomADv4_1_AF_grpmax_joint=0.241722;gnomADv4_1_AF_joint=0.204067;gnomADv4_1_AF_joint_XX=0.20851;gnomADv4_1_AF_joint_XY=0.199418;gnomADv4_1_AN_grpmax_joint=67888;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3296;gnomADv4_1_nhomalt_joint_XX=1823;gnomADv4_1_nhomalt_joint_XY=1473;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27352813 chr22_27352813_C_T C T 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=7.085;CADD_Rawscore=0.667338;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+16551C>T|||||||rs73153990||1||||4||||||||Ensembl||C|C||||chr22:g.27352813C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-4660C>T|||||||rs73153990||1||||||||||||Ensembl||C|C||||chr22:g.27352813C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-4660C>T|||||||rs73153990||1||||||||||||Ensembl||C|C||||chr22:g.27352813C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-4660C>T|||||||rs73153990||1||||||||||||Ensembl||C|C||||chr22:g.27352813C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-4660C>T|||||||rs73153990||1||||||||||||Ensembl||C|C||||chr22:g.27352813C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-4660C>T|||||||rs73153990||1||||||||||||Ensembl||C|C||||chr22:g.27352813C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-4660C>T|||||||rs73153990||1||||||||||||Ensembl||C|C||||chr22:g.27352813C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-4660C>T|||||||rs73153990||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27352813C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26487;gnomADv4_1_AC_joint_XX=13817;gnomADv4_1_AC_joint_XY=12670;gnomADv4_1_AF_grpmax_joint=0.230991;gnomADv4_1_AF_joint=0.174213;gnomADv4_1_AF_joint_XX=0.177784;gnomADv4_1_AF_joint_XY=0.170479;gnomADv4_1_AN_grpmax_joint=67890;gnomADv4_1_AN_joint=152038;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2548;gnomADv4_1_nhomalt_joint_XX=1402;gnomADv4_1_nhomalt_joint_XY=1146;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27353417 chr22_27353417_T_C T C 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=2.846;CADD_Rawscore=0.259533;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+17155T>C|||||||rs9608604||1||||4||||||||Ensembl||T|T||||chr22:g.27353417T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-4056T>C|||||||rs9608604||1||||||||||||Ensembl||T|T||||chr22:g.27353417T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-4056T>C|||||||rs9608604||1||||||||||||Ensembl||T|T||||chr22:g.27353417T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-4056T>C|||||||rs9608604||1||||||||||||Ensembl||T|T||||chr22:g.27353417T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-4056T>C|||||||rs9608604||1||||||||||||Ensembl||T|T||||chr22:g.27353417T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-4056T>C|||||||rs9608604||1||||||||||||Ensembl||T|T||||chr22:g.27353417T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-4056T>C|||||||rs9608604||1||||||||||||Ensembl||T|T||||chr22:g.27353417T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-4056T>C|||||||rs9608604||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27353417T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31161;gnomADv4_1_AC_joint_XX=16253;gnomADv4_1_AC_joint_XY=14908;gnomADv4_1_AF_grpmax_joint=0.242816;gnomADv4_1_AF_joint=0.20474;gnomADv4_1_AF_joint_XX=0.208972;gnomADv4_1_AF_joint_XY=0.200317;gnomADv4_1_AN_grpmax_joint=67994;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3380;gnomADv4_1_nhomalt_joint_XX=1852;gnomADv4_1_nhomalt_joint_XY=1528;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27353531 chr22_27353531_T_G T G 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.222;CADD_Rawscore=-0.399845;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+17269T>G|||||||rs9613431||1||||4||||||||Ensembl||T|T||||chr22:g.27353531T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-3942T>G|||||||rs9613431||1||||||||||||Ensembl||T|T||||chr22:g.27353531T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-3942T>G|||||||rs9613431||1||||||||||||Ensembl||T|T||||chr22:g.27353531T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-3942T>G|||||||rs9613431||1||||||||||||Ensembl||T|T||||chr22:g.27353531T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-3942T>G|||||||rs9613431||1||||||||||||Ensembl||T|T||||chr22:g.27353531T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-3942T>G|||||||rs9613431||1||||||||||||Ensembl||T|T||||chr22:g.27353531T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-3942T>G|||||||rs9613431||1||||||||||||Ensembl||T|T||||chr22:g.27353531T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-3942T>G|||||||rs9613431||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27353531T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31039;gnomADv4_1_AC_joint_XX=16206;gnomADv4_1_AC_joint_XY=14833;gnomADv4_1_AF_grpmax_joint=0.242424;gnomADv4_1_AF_joint=0.204775;gnomADv4_1_AF_joint_XX=0.209077;gnomADv4_1_AF_joint_XY=0.200273;gnomADv4_1_AN_grpmax_joint=67914;gnomADv4_1_AN_joint=151576;gnomADv4_1_AN_joint_XX=77512;gnomADv4_1_AN_joint_XY=74064;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3334;gnomADv4_1_nhomalt_joint_XX=1835;gnomADv4_1_nhomalt_joint_XY=1499;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27353533 chr22_27353533_GTTA_G GTTA G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.569;CADDIndel_Rawscore=-0.160742;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+17289_491+17291del|||||||rs71840624||1||||4||||||||Ensembl||TTA|TTA|||17|chr22:g.27353551_27353553del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-3922_1167-3920del|||||||rs71840624||1||||||||||||Ensembl||TTA|TTA|||17|chr22:g.27353551_27353553del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-3922_634-3920del|||||||rs71840624||1||||||||||||Ensembl||TTA|TTA|||17|chr22:g.27353551_27353553del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-3922_483-3920del|||||||rs71840624||1||||||||||||Ensembl||TTA|TTA|||17|chr22:g.27353551_27353553del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-3922_324-3920del|||||||rs71840624||1||||||||||||Ensembl||TTA|TTA|||17|chr22:g.27353551_27353553del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-3922_583-3920del|||||||rs71840624||1||||||||||||Ensembl||TTA|TTA|||17|chr22:g.27353551_27353553del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-3922_840-3920del|||||||rs71840624||1||||||||||||Ensembl||TTA|TTA|||17|chr22:g.27353551_27353553del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-3922_711-3920del|||||||rs71840624||1||EntrezGene||||||||||RefSeq||TTA|TTA|||17|chr22:g.27353551_27353553del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33871;gnomADv4_1_AC_joint_XX=17550;gnomADv4_1_AC_joint_XY=16321;gnomADv4_1_AF_grpmax_joint=0.244494;gnomADv4_1_AF_joint=0.223609;gnomADv4_1_AF_joint_XX=0.226528;gnomADv4_1_AF_joint_XY=0.220554;gnomADv4_1_AN_grpmax_joint=67838;gnomADv4_1_AN_joint=151474;gnomADv4_1_AN_joint_XX=77474;gnomADv4_1_AN_joint_XY=74000;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3825;gnomADv4_1_nhomalt_joint_XX=2069;gnomADv4_1_nhomalt_joint_XY=1756;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27353559 chr22_27353559_G_A G A 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.946;CADD_Rawscore=-0.032207;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+17297G>A|||||||rs9613432||1||||4||||||||Ensembl||G|G||||chr22:g.27353559G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-3914G>A|||||||rs9613432||1||||||||||||Ensembl||G|G||||chr22:g.27353559G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-3914G>A|||||||rs9613432||1||||||||||||Ensembl||G|G||||chr22:g.27353559G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-3914G>A|||||||rs9613432||1||||||||||||Ensembl||G|G||||chr22:g.27353559G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-3914G>A|||||||rs9613432||1||||||||||||Ensembl||G|G||||chr22:g.27353559G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-3914G>A|||||||rs9613432||1||||||||||||Ensembl||G|G||||chr22:g.27353559G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-3914G>A|||||||rs9613432||1||||||||||||Ensembl||G|G||||chr22:g.27353559G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-3914G>A|||||||rs9613432||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27353559G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31037;gnomADv4_1_AC_joint_XX=16206;gnomADv4_1_AC_joint_XY=14831;gnomADv4_1_AF_grpmax_joint=0.242386;gnomADv4_1_AF_joint=0.204341;gnomADv4_1_AF_joint_XX=0.208684;gnomADv4_1_AF_joint_XY=0.199798;gnomADv4_1_AN_grpmax_joint=67904;gnomADv4_1_AN_joint=151888;gnomADv4_1_AN_joint_XX=77658;gnomADv4_1_AN_joint_XY=74230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3331;gnomADv4_1_nhomalt_joint_XX=1832;gnomADv4_1_nhomalt_joint_XY=1499;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27353654 chr22_27353654_T_C T C 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.039;CADD_Rawscore=-0.872303;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+17392T>C|||||||rs9613433||1||||4||||||||Ensembl||T|T||||chr22:g.27353654T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-3819T>C|||||||rs9613433||1||||||||||||Ensembl||T|T||||chr22:g.27353654T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-3819T>C|||||||rs9613433||1||||||||||||Ensembl||T|T||||chr22:g.27353654T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-3819T>C|||||||rs9613433||1||||||||||||Ensembl||T|T||||chr22:g.27353654T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-3819T>C|||||||rs9613433||1||||||||||||Ensembl||T|T||||chr22:g.27353654T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-3819T>C|||||||rs9613433||1||||||||||||Ensembl||T|T||||chr22:g.27353654T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-3819T>C|||||||rs9613433||1||||||||||||Ensembl||T|T||||chr22:g.27353654T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-3819T>C|||||||rs9613433||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27353654T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31120;gnomADv4_1_AC_joint_XX=16241;gnomADv4_1_AC_joint_XY=14879;gnomADv4_1_AF_grpmax_joint=0.242947;gnomADv4_1_AF_joint=0.204664;gnomADv4_1_AF_joint_XX=0.208936;gnomADv4_1_AF_joint_XY=0.200196;gnomADv4_1_AN_grpmax_joint=67990;gnomADv4_1_AN_joint=152054;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3377;gnomADv4_1_nhomalt_joint_XX=1851;gnomADv4_1_nhomalt_joint_XY=1526;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27353704 chr22_27353704_GT_G GT G 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.549;CADDIndel_Rawscore=-0.169573;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+17448del|||||||rs142093582||1||||4||||||||Ensembl||T|T|||5|chr22:g.27353710del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-3763del|||||||rs142093582||1||||||||||||Ensembl||T|T|||5|chr22:g.27353710del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-3763del|||||||rs142093582||1||||||||||||Ensembl||T|T|||5|chr22:g.27353710del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-3763del|||||||rs142093582||1||||||||||||Ensembl||T|T|||5|chr22:g.27353710del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-3763del|||||||rs142093582||1||||||||||||Ensembl||T|T|||5|chr22:g.27353710del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-3763del|||||||rs142093582||1||||||||||||Ensembl||T|T|||5|chr22:g.27353710del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-3763del|||||||rs142093582||1||||||||||||Ensembl||T|T|||5|chr22:g.27353710del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-3763del|||||||rs142093582||1||EntrezGene||||||||||RefSeq||T|T|||5|chr22:g.27353710del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26569;gnomADv4_1_AC_joint_XX=13861;gnomADv4_1_AC_joint_XY=12708;gnomADv4_1_AF_grpmax_joint=0.231935;gnomADv4_1_AF_joint=0.175008;gnomADv4_1_AF_joint_XX=0.178529;gnomADv4_1_AF_joint_XY=0.171322;gnomADv4_1_AN_grpmax_joint=67920;gnomADv4_1_AN_joint=151816;gnomADv4_1_AN_joint_XX=77640;gnomADv4_1_AN_joint_XY=74176;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2608;gnomADv4_1_nhomalt_joint_XX=1427;gnomADv4_1_nhomalt_joint_XY=1181;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27354115 chr22_27354115_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=3.754;CADD_Rawscore=0.343361;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+17853T>C|||||||rs9608605||1||||4||||||||Ensembl||T|T||||chr22:g.27354115T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-3358T>C|||||||rs9608605||1||||||||||||Ensembl||T|T||||chr22:g.27354115T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-3358T>C|||||||rs9608605||1||||||||||||Ensembl||T|T||||chr22:g.27354115T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-3358T>C|||||||rs9608605||1||||||||||||Ensembl||T|T||||chr22:g.27354115T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-3358T>C|||||||rs9608605||1||||||||||||Ensembl||T|T||||chr22:g.27354115T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-3358T>C|||||||rs9608605||1||||||||||||Ensembl||T|T||||chr22:g.27354115T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-3358T>C|||||||rs9608605||1||||||||||||Ensembl||T|T||||chr22:g.27354115T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-3358T>C|||||||rs9608605||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27354115T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31091;gnomADv4_1_AC_joint_XX=16219;gnomADv4_1_AC_joint_XY=14872;gnomADv4_1_AF_grpmax_joint=0.242773;gnomADv4_1_AF_joint=0.204686;gnomADv4_1_AF_joint_XX=0.208948;gnomADv4_1_AF_joint_XY=0.200232;gnomADv4_1_AN_grpmax_joint=67944;gnomADv4_1_AN_joint=151896;gnomADv4_1_AN_joint_XX=77622;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3366;gnomADv4_1_nhomalt_joint_XX=1845;gnomADv4_1_nhomalt_joint_XY=1521;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27354447 chr22_27354447_G_C G C 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.26;CADD_Rawscore=-0.359178;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+18185G>C|||||||rs9613434||1||||4||||||||Ensembl||G|G||||chr22:g.27354447G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-3026G>C|||||||rs9613434||1||||||||||||Ensembl||G|G||||chr22:g.27354447G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-3026G>C|||||||rs9613434||1||||||||||||Ensembl||G|G||||chr22:g.27354447G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-3026G>C|||||||rs9613434||1||||||||||||Ensembl||G|G||||chr22:g.27354447G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-3026G>C|||||||rs9613434||1||||||||||||Ensembl||G|G||||chr22:g.27354447G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-3026G>C|||||||rs9613434||1||||||||||||Ensembl||G|G||||chr22:g.27354447G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-3026G>C|||||||rs9613434||1||||||||||||Ensembl||G|G||||chr22:g.27354447G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-3026G>C|||||||rs9613434||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27354447G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31129;gnomADv4_1_AC_joint_XX=16250;gnomADv4_1_AC_joint_XY=14879;gnomADv4_1_AF_grpmax_joint=0.242931;gnomADv4_1_AF_joint=0.204812;gnomADv4_1_AF_joint_XX=0.209138;gnomADv4_1_AF_joint_XY=0.200288;gnomADv4_1_AN_grpmax_joint=67974;gnomADv4_1_AN_joint=151988;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3370;gnomADv4_1_nhomalt_joint_XX=1853;gnomADv4_1_nhomalt_joint_XY=1517;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27354464 chr22_27354464_A_G A G 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.522;CADD_Rawscore=-0.182458;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+18202A>G|||||||rs9613435||1||||4||||||||Ensembl||A|A||||chr22:g.27354464A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-3009A>G|||||||rs9613435||1||||||||||||Ensembl||A|A||||chr22:g.27354464A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-3009A>G|||||||rs9613435||1||||||||||||Ensembl||A|A||||chr22:g.27354464A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-3009A>G|||||||rs9613435||1||||||||||||Ensembl||A|A||||chr22:g.27354464A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-3009A>G|||||||rs9613435||1||||||||||||Ensembl||A|A||||chr22:g.27354464A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-3009A>G|||||||rs9613435||1||||||||||||Ensembl||A|A||||chr22:g.27354464A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-3009A>G|||||||rs9613435||1||||||||||||Ensembl||A|A||||chr22:g.27354464A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-3009A>G|||||||rs9613435||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27354464A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26637;gnomADv4_1_AC_joint_XX=13878;gnomADv4_1_AC_joint_XY=12759;gnomADv4_1_AF_grpmax_joint=0.231979;gnomADv4_1_AF_joint=0.175313;gnomADv4_1_AF_joint_XX=0.178647;gnomADv4_1_AF_joint_XY=0.171824;gnomADv4_1_AN_grpmax_joint=67950;gnomADv4_1_AN_joint=151940;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2603;gnomADv4_1_nhomalt_joint_XX=1424;gnomADv4_1_nhomalt_joint_XY=1179;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27355022 chr22_27355022_T_C T C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.967;CADD_Rawscore=-0.02637;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+18760T>C|||||||rs6005385||1||||4||||||||Ensembl||T|T||||chr22:g.27355022T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-2451T>C|||||||rs6005385||1||||||||||||Ensembl||T|T||||chr22:g.27355022T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-2451T>C|||||||rs6005385||1||||||||||||Ensembl||T|T||||chr22:g.27355022T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-2451T>C|||||||rs6005385||1||||||||||||Ensembl||T|T||||chr22:g.27355022T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-2451T>C|||||||rs6005385||1||||||||||||Ensembl||T|T||||chr22:g.27355022T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-2451T>C|||||||rs6005385||1||||||||||||Ensembl||T|T||||chr22:g.27355022T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-2451T>C|||||||rs6005385||1||||||||||||Ensembl||T|T||||chr22:g.27355022T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-2451T>C|||||||rs6005385||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27355022T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31260;gnomADv4_1_AC_joint_XX=16324;gnomADv4_1_AC_joint_XY=14936;gnomADv4_1_AF_grpmax_joint=0.242976;gnomADv4_1_AF_joint=0.205523;gnomADv4_1_AF_joint_XX=0.20995;gnomADv4_1_AF_joint_XY=0.200893;gnomADv4_1_AN_grpmax_joint=67978;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3396;gnomADv4_1_nhomalt_joint_XX=1868;gnomADv4_1_nhomalt_joint_XY=1528;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27355194 chr22_27355194_G_T G T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.608;CADD_Rawscore=0.106322;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+18932G>T|||||||rs143749125||1||||4||||||||Ensembl||G|G||||chr22:g.27355194G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-2279G>T|||||||rs143749125||1||||||||||||Ensembl||G|G||||chr22:g.27355194G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-2279G>T|||||||rs143749125||1||||||||||||Ensembl||G|G||||chr22:g.27355194G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-2279G>T|||||||rs143749125||1||||||||||||Ensembl||G|G||||chr22:g.27355194G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-2279G>T|||||||rs143749125||1||||||||||||Ensembl||G|G||||chr22:g.27355194G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-2279G>T|||||||rs143749125||1||||||||||||Ensembl||G|G||||chr22:g.27355194G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-2279G>T|||||||rs143749125||1||||||||||||Ensembl||G|G||||chr22:g.27355194G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-2279G>T|||||||rs143749125||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27355194G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31130;gnomADv4_1_AC_joint_XX=16243;gnomADv4_1_AC_joint_XY=14887;gnomADv4_1_AF_grpmax_joint=0.242837;gnomADv4_1_AF_joint=0.204679;gnomADv4_1_AF_joint_XX=0.208967;gnomADv4_1_AF_joint_XY=0.200196;gnomADv4_1_AN_grpmax_joint=67988;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3372;gnomADv4_1_nhomalt_joint_XX=1849;gnomADv4_1_nhomalt_joint_XY=1523;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27355266 chr22_27355266_A_G A G 54 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.033;CADD_Rawscore=0.27759;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+19004A>G|||||||rs140549268||1||||4||||||||Ensembl||A|A||||chr22:g.27355266A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-2207A>G|||||||rs140549268||1||||||||||||Ensembl||A|A||||chr22:g.27355266A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-2207A>G|||||||rs140549268||1||||||||||||Ensembl||A|A||||chr22:g.27355266A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-2207A>G|||||||rs140549268||1||||||||||||Ensembl||A|A||||chr22:g.27355266A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-2207A>G|||||||rs140549268||1||||||||||||Ensembl||A|A||||chr22:g.27355266A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-2207A>G|||||||rs140549268||1||||||||||||Ensembl||A|A||||chr22:g.27355266A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-2207A>G|||||||rs140549268||1||||||||||||Ensembl||A|A||||chr22:g.27355266A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-2207A>G|||||||rs140549268||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27355266A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31119;gnomADv4_1_AC_joint_XX=16240;gnomADv4_1_AC_joint_XY=14879;gnomADv4_1_AF_grpmax_joint=0.242967;gnomADv4_1_AF_joint=0.204649;gnomADv4_1_AF_joint_XX=0.208971;gnomADv4_1_AF_joint_XY=0.200132;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=152060;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3374;gnomADv4_1_nhomalt_joint_XX=1854;gnomADv4_1_nhomalt_joint_XY=1520;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27355316 chr22_27355316_A_G A G 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.735;CADD_Rawscore=-0.096522;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+19054A>G|||||||rs111245494||1||||4||||||||Ensembl||A|A||||chr22:g.27355316A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-2157A>G|||||||rs111245494||1||||||||||||Ensembl||A|A||||chr22:g.27355316A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-2157A>G|||||||rs111245494||1||||||||||||Ensembl||A|A||||chr22:g.27355316A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-2157A>G|||||||rs111245494||1||||||||||||Ensembl||A|A||||chr22:g.27355316A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-2157A>G|||||||rs111245494||1||||||||||||Ensembl||A|A||||chr22:g.27355316A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-2157A>G|||||||rs111245494||1||||||||||||Ensembl||A|A||||chr22:g.27355316A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-2157A>G|||||||rs111245494||1||||||||||||Ensembl||A|A||||chr22:g.27355316A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-2157A>G|||||||rs111245494||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27355316A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31112;gnomADv4_1_AC_joint_XX=16253;gnomADv4_1_AC_joint_XY=14859;gnomADv4_1_AF_grpmax_joint=0.243003;gnomADv4_1_AF_joint=0.204671;gnomADv4_1_AF_joint_XX=0.209192;gnomADv4_1_AF_joint_XY=0.199943;gnomADv4_1_AN_grpmax_joint=67958;gnomADv4_1_AN_joint=152010;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3374;gnomADv4_1_nhomalt_joint_XX=1859;gnomADv4_1_nhomalt_joint_XY=1515;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27355474 chr22_27355474_A_G A G 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.711;CADD_Rawscore=0.122653;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+19212A>G|||||||rs9613436||1||||4||||||||Ensembl||A|A||||chr22:g.27355474A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-1999A>G|||||||rs9613436||1||||||||||||Ensembl||A|A||||chr22:g.27355474A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-1999A>G|||||||rs9613436||1||||||||||||Ensembl||A|A||||chr22:g.27355474A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-1999A>G|||||||rs9613436||1||||||||||||Ensembl||A|A||||chr22:g.27355474A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-1999A>G|||||||rs9613436||1||||||||||||Ensembl||A|A||||chr22:g.27355474A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-1999A>G|||||||rs9613436||1||||||||||||Ensembl||A|A||||chr22:g.27355474A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-1999A>G|||||||rs9613436||1||||||||||||Ensembl||A|A||||chr22:g.27355474A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-1999A>G|||||||rs9613436||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27355474A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26627;gnomADv4_1_AC_joint_XX=13885;gnomADv4_1_AC_joint_XY=12742;gnomADv4_1_AF_grpmax_joint=0.231849;gnomADv4_1_AF_joint=0.174968;gnomADv4_1_AF_joint_XX=0.178544;gnomADv4_1_AF_joint_XY=0.171231;gnomADv4_1_AN_grpmax_joint=67984;gnomADv4_1_AN_joint=152182;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2602;gnomADv4_1_nhomalt_joint_XX=1429;gnomADv4_1_nhomalt_joint_XY=1173;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27355493 chr22_27355493_T_A T A 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.961;CADD_Rawscore=0.158667;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+19231T>A|||||||rs4277622||1||||4||||||||Ensembl||T|T||||chr22:g.27355493T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-1980T>A|||||||rs4277622||1||||||||||||Ensembl||T|T||||chr22:g.27355493T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-1980T>A|||||||rs4277622||1||||||||||||Ensembl||T|T||||chr22:g.27355493T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-1980T>A|||||||rs4277622||1||||||||||||Ensembl||T|T||||chr22:g.27355493T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-1980T>A|||||||rs4277622||1||||||||||||Ensembl||T|T||||chr22:g.27355493T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-1980T>A|||||||rs4277622||1||||||||||||Ensembl||T|T||||chr22:g.27355493T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-1980T>A|||||||rs4277622||1||||||||||||Ensembl||T|T||||chr22:g.27355493T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-1980T>A|||||||rs4277622||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27355493T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31091;gnomADv4_1_AC_joint_XX=16229;gnomADv4_1_AC_joint_XY=14862;gnomADv4_1_AF_grpmax_joint=0.242657;gnomADv4_1_AF_joint=0.204428;gnomADv4_1_AF_joint_XX=0.208808;gnomADv4_1_AF_joint_XY=0.199849;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3356;gnomADv4_1_nhomalt_joint_XX=1846;gnomADv4_1_nhomalt_joint_XY=1510;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27355559 chr22_27355559_A_G A G 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.849;CADD_Rawscore=-0.060008;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+19297A>G|||||||rs4373012||1||||4||||||||Ensembl||A|A||||chr22:g.27355559A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-1914A>G|||||||rs4373012||1||||||||||||Ensembl||A|A||||chr22:g.27355559A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-1914A>G|||||||rs4373012||1||||||||||||Ensembl||A|A||||chr22:g.27355559A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-1914A>G|||||||rs4373012||1||||||||||||Ensembl||A|A||||chr22:g.27355559A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-1914A>G|||||||rs4373012||1||||||||||||Ensembl||A|A||||chr22:g.27355559A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-1914A>G|||||||rs4373012||1||||||||||||Ensembl||A|A||||chr22:g.27355559A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-1914A>G|||||||rs4373012||1||||||||||||Ensembl||A|A||||chr22:g.27355559A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-1914A>G|||||||rs4373012||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27355559A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33992;gnomADv4_1_AC_joint_XX=17595;gnomADv4_1_AC_joint_XY=16397;gnomADv4_1_AF_grpmax_joint=0.244586;gnomADv4_1_AF_joint=0.223487;gnomADv4_1_AF_joint_XX=0.226349;gnomADv4_1_AF_joint_XY=0.220496;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3876;gnomADv4_1_nhomalt_joint_XX=2090;gnomADv4_1_nhomalt_joint_XY=1786;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27355615 chr22_27355615_C_T C T 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=2.421;CADD_Rawscore=0.214999;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+19353C>T|||||||rs4499535||1||||4||||||||Ensembl||C|C||||chr22:g.27355615C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-1858C>T|||||||rs4499535||1||||||||||||Ensembl||C|C||||chr22:g.27355615C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-1858C>T|||||||rs4499535||1||||||||||||Ensembl||C|C||||chr22:g.27355615C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-1858C>T|||||||rs4499535||1||||||||||||Ensembl||C|C||||chr22:g.27355615C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-1858C>T|||||||rs4499535||1||||||||||||Ensembl||C|C||||chr22:g.27355615C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-1858C>T|||||||rs4499535||1||||||||||||Ensembl||C|C||||chr22:g.27355615C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-1858C>T|||||||rs4499535||1||||||||||||Ensembl||C|C||||chr22:g.27355615C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-1858C>T|||||||rs4499535||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27355615C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31123;gnomADv4_1_AC_joint_XX=16236;gnomADv4_1_AC_joint_XY=14887;gnomADv4_1_AF_grpmax_joint=0.242824;gnomADv4_1_AF_joint=0.20474;gnomADv4_1_AF_joint_XX=0.208968;gnomADv4_1_AF_joint_XY=0.20032;gnomADv4_1_AN_grpmax_joint=67934;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3362;gnomADv4_1_nhomalt_joint_XX=1843;gnomADv4_1_nhomalt_joint_XY=1519;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27355618 chr22_27355618_T_C T C 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=1.035;CADD_Rawscore=-0.008961;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+19356T>C|||||||rs4277623||1||||4||||||||Ensembl||T|T||||chr22:g.27355618T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-1855T>C|||||||rs4277623||1||||||||||||Ensembl||T|T||||chr22:g.27355618T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-1855T>C|||||||rs4277623||1||||||||||||Ensembl||T|T||||chr22:g.27355618T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-1855T>C|||||||rs4277623||1||||||||||||Ensembl||T|T||||chr22:g.27355618T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-1855T>C|||||||rs4277623||1||||||||||||Ensembl||T|T||||chr22:g.27355618T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-1855T>C|||||||rs4277623||1||||||||||||Ensembl||T|T||||chr22:g.27355618T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-1855T>C|||||||rs4277623||1||||||||||||Ensembl||T|T||||chr22:g.27355618T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-1855T>C|||||||rs4277623||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27355618T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31130;gnomADv4_1_AC_joint_XX=16238;gnomADv4_1_AC_joint_XY=14892;gnomADv4_1_AF_grpmax_joint=0.242688;gnomADv4_1_AF_joint=0.20459;gnomADv4_1_AF_joint_XX=0.208844;gnomADv4_1_AF_joint_XY=0.200145;gnomADv4_1_AN_grpmax_joint=67972;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3364;gnomADv4_1_nhomalt_joint_XX=1844;gnomADv4_1_nhomalt_joint_XY=1520;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27355835 chr22_27355835_G_A G A 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.709;CADD_Rawscore=0.12242;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+19573G>A|||||||rs4302309||1||||4||||||||Ensembl||G|G||||chr22:g.27355835G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-1638G>A|||||||rs4302309||1||||||||||||Ensembl||G|G||||chr22:g.27355835G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-1638G>A|||||||rs4302309||1||||||||||||Ensembl||G|G||||chr22:g.27355835G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-1638G>A|||||||rs4302309||1||||||||||||Ensembl||G|G||||chr22:g.27355835G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-1638G>A|||||||rs4302309||1||||||||||||Ensembl||G|G||||chr22:g.27355835G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-1638G>A|||||||rs4302309||1||||||||||||Ensembl||G|G||||chr22:g.27355835G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-1638G>A|||||||rs4302309||1||||||||||||Ensembl||G|G||||chr22:g.27355835G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-1638G>A|||||||rs4302309||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27355835G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31250;gnomADv4_1_AC_joint_XX=16306;gnomADv4_1_AC_joint_XY=14944;gnomADv4_1_AF_grpmax_joint=0.242728;gnomADv4_1_AF_joint=0.205306;gnomADv4_1_AF_joint_XX=0.209632;gnomADv4_1_AF_joint_XY=0.200785;gnomADv4_1_AN_grpmax_joint=68002;gnomADv4_1_AN_joint=152212;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3395;gnomADv4_1_nhomalt_joint_XX=1862;gnomADv4_1_nhomalt_joint_XY=1533;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27356014 chr22_27356014_A_T A T 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.257;CADD_Rawscore=-0.361384;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+19752A>T|||||||rs4822870||1||||4||||||||Ensembl||A|A||||chr22:g.27356014A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-1459A>T|||||||rs4822870||1||||||||||||Ensembl||A|A||||chr22:g.27356014A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-1459A>T|||||||rs4822870||1||||||||||||Ensembl||A|A||||chr22:g.27356014A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-1459A>T|||||||rs4822870||1||||||||||||Ensembl||A|A||||chr22:g.27356014A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-1459A>T|||||||rs4822870||1||||||||||||Ensembl||A|A||||chr22:g.27356014A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-1459A>T|||||||rs4822870||1||||||||||||Ensembl||A|A||||chr22:g.27356014A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-1459A>T|||||||rs4822870||1||||||||||||Ensembl||A|A||||chr22:g.27356014A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-1459A>T|||||||rs4822870||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27356014A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25685;gnomADv4_1_AC_joint_XX=12745;gnomADv4_1_AC_joint_XY=12940;gnomADv4_1_AF_grpmax_joint=0.326179;gnomADv4_1_AF_joint=0.168834;gnomADv4_1_AF_joint_XX=0.163872;gnomADv4_1_AF_joint_XY=0.174023;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152132;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2392;gnomADv4_1_nhomalt_joint_XX=1157;gnomADv4_1_nhomalt_joint_XY=1235;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27356123 chr22_27356123_T_C T C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.351;CADD_Rawscore=-0.282127;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+19861T>C|||||||rs9608606||1||||4||||||||Ensembl||T|T||||chr22:g.27356123T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-1350T>C|||||||rs9608606||1||||||||||||Ensembl||T|T||||chr22:g.27356123T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-1350T>C|||||||rs9608606||1||||||||||||Ensembl||T|T||||chr22:g.27356123T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-1350T>C|||||||rs9608606||1||||||||||||Ensembl||T|T||||chr22:g.27356123T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-1350T>C|||||||rs9608606||1||||||||||||Ensembl||T|T||||chr22:g.27356123T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-1350T>C|||||||rs9608606||1||||||||||||Ensembl||T|T||||chr22:g.27356123T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-1350T>C|||||||rs9608606||1||||||||||||Ensembl||T|T||||chr22:g.27356123T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-1350T>C|||||||rs9608606||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27356123T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31115;gnomADv4_1_AC_joint_XX=16229;gnomADv4_1_AC_joint_XY=14886;gnomADv4_1_AF_grpmax_joint=0.242909;gnomADv4_1_AF_joint=0.204607;gnomADv4_1_AF_joint_XX=0.208835;gnomADv4_1_AF_joint_XY=0.200188;gnomADv4_1_AN_grpmax_joint=67972;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3373;gnomADv4_1_nhomalt_joint_XX=1852;gnomADv4_1_nhomalt_joint_XY=1521;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27356632 chr22_27356632_G_A G A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=4.138;CADD_Rawscore=0.377504;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+20370G>A|||||||rs13056771||1||||4||||||||Ensembl||G|G||||chr22:g.27356632G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-841G>A|||||||rs13056771||1||||||||||||Ensembl||G|G||||chr22:g.27356632G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-841G>A|||||||rs13056771||1||||||||||||Ensembl||G|G||||chr22:g.27356632G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-841G>A|||||||rs13056771||1||||||||||||Ensembl||G|G||||chr22:g.27356632G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-841G>A|||||||rs13056771||1||||||||||||Ensembl||G|G||||chr22:g.27356632G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-841G>A|||||||rs13056771||1||||||||||||Ensembl||G|G||||chr22:g.27356632G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-841G>A|||||||rs13056771||1||||||||||||Ensembl||G|G||||chr22:g.27356632G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-841G>A|||||||rs13056771||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27356632G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26649;gnomADv4_1_AC_joint_XX=13867;gnomADv4_1_AC_joint_XY=12782;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.175191;gnomADv4_1_AF_joint_XX=0.178335;gnomADv4_1_AF_joint_XY=0.171903;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2466;gnomADv4_1_nhomalt_joint_XX=1321;gnomADv4_1_nhomalt_joint_XY=1145;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27356822 chr22_27356822_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.124;CADD_Rawscore=0.012548;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.491+20560G>A|||||||rs56131614||1||||4||||||||Ensembl||G|G||||chr22:g.27356822G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||4/4|ENST00000668323.1:n.1167-651G>A|||||||rs56131614||1||||||||||||Ensembl||G|G||||chr22:g.27356822G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||3/3|ENST00000669277.3:n.634-651G>A|||||||rs56131614||1||||||||||||Ensembl||G|G||||chr22:g.27356822G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||2/2|ENST00000692427.2:n.483-651G>A|||||||rs56131614||1||||||||||||Ensembl||G|G||||chr22:g.27356822G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||1/1|ENST00000786369.1:n.324-651G>A|||||||rs56131614||1||||||||||||Ensembl||G|G||||chr22:g.27356822G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||4/4|ENST00000786370.1:n.583-651G>A|||||||rs56131614||1||||||||||||Ensembl||G|G||||chr22:g.27356822G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||3/3|ENST00000786371.1:n.840-651G>A|||||||rs56131614||1||||||||||||Ensembl||G|G||||chr22:g.27356822G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||4/4|XR_430432.4:n.711-651G>A|||||||rs56131614||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27356822G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31167;gnomADv4_1_AC_joint_XX=16254;gnomADv4_1_AC_joint_XY=14913;gnomADv4_1_AF_grpmax_joint=0.242924;gnomADv4_1_AF_joint=0.204871;gnomADv4_1_AF_joint_XX=0.209044;gnomADv4_1_AF_joint_XY=0.200508;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3380;gnomADv4_1_nhomalt_joint_XX=1851;gnomADv4_1_nhomalt_joint_XY=1529;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27358177 chr22_27358177_A_G A G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.24;CADD_Rawscore=-0.379622;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-21009A>G|||||||rs5762086||1||||4||||||||Ensembl||A|A||||chr22:g.27358177A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs5762086|550|1||||||||||||Ensembl||A|A||||chr22:g.27358177A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs5762086|549|1||||||||||||Ensembl||A|A||||chr22:g.27358177A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs5762086|549|1||||||||||||Ensembl||A|A||||chr22:g.27358177A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs5762086|553|1||||||||||||Ensembl||A|A||||chr22:g.27358177A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs5762086|549|1||||||||||||Ensembl||A|A||||chr22:g.27358177A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs5762086|549|1||||||||||||Ensembl||A|A||||chr22:g.27358177A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs5762086|553|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27358177A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84240;gnomADv4_1_AC_joint_XX=42562;gnomADv4_1_AC_joint_XY=41678;gnomADv4_1_AF_grpmax_joint=0.807573;gnomADv4_1_AF_joint=0.554714;gnomADv4_1_AF_joint_XX=0.547929;gnomADv4_1_AF_joint_XY=0.561819;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151862;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74184;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24171;gnomADv4_1_nhomalt_joint_XX=12127;gnomADv4_1_nhomalt_joint_XY=12044;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27358232 chr22_27358232_G_GTC G GTC 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=2.732;CADDIndel_Rawscore=0.24807;CSQ=TC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-20950_492-20949dup|||||||rs34313188||1||||4||||||||Ensembl||||||5|chr22:g.27358236_27358237dup|||||||||||||,TC|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs34313188|605|1||||||||||||Ensembl|||||||chr22:g.27358236_27358237dup|||||||||||||,TC|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs34313188|604|1||||||||||||Ensembl|||||||chr22:g.27358236_27358237dup|||||||||||||,TC|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs34313188|604|1||||||||||||Ensembl|||||||chr22:g.27358236_27358237dup|||||||||||||,TC|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs34313188|608|1||||||||||||Ensembl|||||||chr22:g.27358236_27358237dup|||||||||||||,TC|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs34313188|604|1||||||||||||Ensembl|||||||chr22:g.27358236_27358237dup|||||||||||||,TC|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs34313188|604|1||||||||||||Ensembl|||||||chr22:g.27358236_27358237dup|||||||||||||,TC|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs34313188|608|1||EntrezGene||||||||||RefSeq|||||||chr22:g.27358236_27358237dup|||||||||||||;TYPE=INDEL;VEP_Allele=TC,TC,TC,TC,TC,TC,TC,TC;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=83986;gnomADv4_1_AC_joint_XX=42421;gnomADv4_1_AC_joint_XY=41565;gnomADv4_1_AF_grpmax_joint=0.808083;gnomADv4_1_AF_joint=0.553552;gnomADv4_1_AF_joint_XX=0.546789;gnomADv4_1_AF_joint_XY=0.560629;gnomADv4_1_AN_grpmax_joint=5122;gnomADv4_1_AN_joint=151722;gnomADv4_1_AN_joint_XX=77582;gnomADv4_1_AN_joint_XY=74140;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24051;gnomADv4_1_nhomalt_joint_XX=12061;gnomADv4_1_nhomalt_joint_XY=11990;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27358451 chr22_27358451_C_T C T 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=1.85;CADD_Rawscore=0.143268;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-20735C>T|||||||rs12484998||1||||4||||||||Ensembl||C|C||||chr22:g.27358451C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs12484998|824|1||||||||||||Ensembl||C|C||||chr22:g.27358451C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs12484998|823|1||||||||||||Ensembl||C|C||||chr22:g.27358451C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs12484998|823|1||||||||||||Ensembl||C|C||||chr22:g.27358451C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs12484998|827|1||||||||||||Ensembl||C|C||||chr22:g.27358451C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs12484998|823|1||||||||||||Ensembl||C|C||||chr22:g.27358451C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs12484998|823|1||||||||||||Ensembl||C|C||||chr22:g.27358451C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs12484998|827|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27358451C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25452;gnomADv4_1_AC_joint_XX=12636;gnomADv4_1_AC_joint_XY=12816;gnomADv4_1_AF_grpmax_joint=0.324067;gnomADv4_1_AF_joint=0.167383;gnomADv4_1_AF_joint_XX=0.162521;gnomADv4_1_AF_joint_XY=0.172471;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2330;gnomADv4_1_nhomalt_joint_XX=1131;gnomADv4_1_nhomalt_joint_XY=1199;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27358452 chr22_27358452_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.381;CADD_Rawscore=0.210453;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-20734A>G|||||||rs6005387||1||||4||||||||Ensembl||A|A||||chr22:g.27358452A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs6005387|825|1||||||||||||Ensembl||A|A||||chr22:g.27358452A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs6005387|824|1||||||||||||Ensembl||A|A||||chr22:g.27358452A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs6005387|824|1||||||||||||Ensembl||A|A||||chr22:g.27358452A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs6005387|828|1||||||||||||Ensembl||A|A||||chr22:g.27358452A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs6005387|824|1||||||||||||Ensembl||A|A||||chr22:g.27358452A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs6005387|824|1||||||||||||Ensembl||A|A||||chr22:g.27358452A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs6005387|828|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27358452A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57409;gnomADv4_1_AC_joint_XX=29386;gnomADv4_1_AC_joint_XY=28023;gnomADv4_1_AF_grpmax_joint=0.503694;gnomADv4_1_AF_joint=0.377885;gnomADv4_1_AF_joint_XX=0.378208;gnomADv4_1_AF_joint_XY=0.377546;gnomADv4_1_AN_grpmax_joint=41418;gnomADv4_1_AN_joint=151922;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11385;gnomADv4_1_nhomalt_joint_XX=5851;gnomADv4_1_nhomalt_joint_XY=5534;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27358841 chr22_27358841_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=4.769;CADD_Rawscore=0.434421;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-20345G>A|||||||rs5997228||1||||4||||||||Ensembl||G|G||||chr22:g.27358841G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs5997228|1214|1||||||||||||Ensembl||G|G||||chr22:g.27358841G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs5997228|1213|1||||||||||||Ensembl||G|G||||chr22:g.27358841G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs5997228|1213|1||||||||||||Ensembl||G|G||||chr22:g.27358841G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs5997228|1217|1||||||||||||Ensembl||G|G||||chr22:g.27358841G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs5997228|1213|1||||||||||||Ensembl||G|G||||chr22:g.27358841G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs5997228|1213|1||||||||||||Ensembl||G|G||||chr22:g.27358841G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs5997228|1217|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27358841G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52503;gnomADv4_1_AC_joint_XX=26706;gnomADv4_1_AC_joint_XY=25797;gnomADv4_1_AF_grpmax_joint=0.421769;gnomADv4_1_AF_joint=0.345492;gnomADv4_1_AF_joint_XX=0.343671;gnomADv4_1_AF_joint_XY=0.347397;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151966;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9164;gnomADv4_1_nhomalt_joint_XX=4658;gnomADv4_1_nhomalt_joint_XY=4506;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27359475 chr22_27359475_T_TTG T TTG 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.464;CADDIndel_Rawscore=-0.21211;CSQ=TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-19691_492-19690dup|||||||rs141246301||1||||4||||||||Ensembl||||||21|chr22:g.27359495_27359496dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs141246301|1848|1||||||||||||Ensembl|||||||chr22:g.27359495_27359496dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs141246301|1847|1||||||||||||Ensembl|||||||chr22:g.27359495_27359496dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs141246301|1847|1||||||||||||Ensembl|||||||chr22:g.27359495_27359496dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs141246301|1851|1||||||||||||Ensembl|||||||chr22:g.27359495_27359496dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs141246301|1847|1||||||||||||Ensembl|||||||chr22:g.27359495_27359496dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs141246301|1847|1||||||||||||Ensembl|||||||chr22:g.27359495_27359496dup|||||||||||||,TG|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs141246301|1851|1||EntrezGene||||||||||RefSeq|||||||chr22:g.27359495_27359496dup|||||||||||||;TYPE=INDEL;VEP_Allele=TG,TG,TG,TG,TG,TG,TG,TG;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30447;gnomADv4_1_AC_joint_XX=15929;gnomADv4_1_AC_joint_XY=14518;gnomADv4_1_AF_grpmax_joint=0.232636;gnomADv4_1_AF_joint=0.202691;gnomADv4_1_AF_joint_XX=0.207085;gnomADv4_1_AF_joint_XY=0.198079;gnomADv4_1_AN_grpmax_joint=67324;gnomADv4_1_AN_joint=150214;gnomADv4_1_AN_joint_XX=76920;gnomADv4_1_AN_joint_XY=73294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3089;gnomADv4_1_nhomalt_joint_XX=1671;gnomADv4_1_nhomalt_joint_XY=1418;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27359550 chr22_27359550_CA_C CA C 54 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=0.185;CADDIndel_Rawscore=-0.447595;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-19634del|||||||rs141138784||1||||4||||||||Ensembl||A|A|||1|chr22:g.27359552del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs141138784|1924|1||||||||||||Ensembl||A|A||||chr22:g.27359552del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs141138784|1923|1||||||||||||Ensembl||A|A||||chr22:g.27359552del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs141138784|1923|1||||||||||||Ensembl||A|A||||chr22:g.27359552del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs141138784|1927|1||||||||||||Ensembl||A|A||||chr22:g.27359552del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs141138784|1923|1||||||||||||Ensembl||A|A||||chr22:g.27359552del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs141138784|1923|1||||||||||||Ensembl||A|A||||chr22:g.27359552del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs141138784|1927|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27359552del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31874;gnomADv4_1_AC_joint_XX=16736;gnomADv4_1_AC_joint_XY=15138;gnomADv4_1_AF_grpmax_joint=0.232578;gnomADv4_1_AF_joint=0.209794;gnomADv4_1_AF_joint_XX=0.215548;gnomADv4_1_AF_joint_XY=0.20378;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=151930;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3502;gnomADv4_1_nhomalt_joint_XX=1948;gnomADv4_1_nhomalt_joint_XY=1554;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27359664 chr22_27359664_C_T C T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.46;CADD_Rawscore=-0.214046;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-19522C>T|||||||rs13054671||1||||4||||||||Ensembl||C|C||||chr22:g.27359664C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs13054671|2037|1||||||||||||Ensembl||C|C||||chr22:g.27359664C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs13054671|2036|1||||||||||||Ensembl||C|C||||chr22:g.27359664C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs13054671|2036|1||||||||||||Ensembl||C|C||||chr22:g.27359664C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs13054671|2040|1||||||||||||Ensembl||C|C||||chr22:g.27359664C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs13054671|2036|1||||||||||||Ensembl||C|C||||chr22:g.27359664C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs13054671|2036|1||||||||||||Ensembl||C|C||||chr22:g.27359664C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs13054671|2040|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27359664C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26821;gnomADv4_1_AC_joint_XX=13945;gnomADv4_1_AC_joint_XY=12876;gnomADv4_1_AF_grpmax_joint=0.256849;gnomADv4_1_AF_joint=0.176289;gnomADv4_1_AF_joint_XX=0.179366;gnomADv4_1_AF_joint_XY=0.173074;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2500;gnomADv4_1_nhomalt_joint_XX=1332;gnomADv4_1_nhomalt_joint_XY=1168;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27359775 chr22_27359775_G_T G T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.623;CADD_Rawscore=0.331737;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-19411G>T|||||||rs7289132||1||||4||||||||Ensembl||G|G||||chr22:g.27359775G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs7289132|2148|1||||||||||||Ensembl||G|G||||chr22:g.27359775G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs7289132|2147|1||||||||||||Ensembl||G|G||||chr22:g.27359775G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs7289132|2147|1||||||||||||Ensembl||G|G||||chr22:g.27359775G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs7289132|2151|1||||||||||||Ensembl||G|G||||chr22:g.27359775G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs7289132|2147|1||||||||||||Ensembl||G|G||||chr22:g.27359775G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs7289132|2147|1||||||||||||Ensembl||G|G||||chr22:g.27359775G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs7289132|2151|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27359775G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22751;gnomADv4_1_AC_joint_XX=11913;gnomADv4_1_AC_joint_XY=10838;gnomADv4_1_AF_grpmax_joint=0.215238;gnomADv4_1_AF_joint=0.149587;gnomADv4_1_AF_joint_XX=0.153206;gnomADv4_1_AF_joint_XY=0.145801;gnomADv4_1_AN_grpmax_joint=67990;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2071;gnomADv4_1_nhomalt_joint_XX=1156;gnomADv4_1_nhomalt_joint_XY=915;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27359945 chr22_27359945_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.66;CADD_Rawscore=0.240679;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-19241T>C|||||||rs6005388||1||||4||||||||Ensembl||T|T||||chr22:g.27359945T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs6005388|2318|1||||||||||||Ensembl||T|T||||chr22:g.27359945T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs6005388|2317|1||||||||||||Ensembl||T|T||||chr22:g.27359945T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs6005388|2317|1||||||||||||Ensembl||T|T||||chr22:g.27359945T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs6005388|2321|1||||||||||||Ensembl||T|T||||chr22:g.27359945T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs6005388|2317|1||||||||||||Ensembl||T|T||||chr22:g.27359945T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs6005388|2317|1||||||||||||Ensembl||T|T||||chr22:g.27359945T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs6005388|2321|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27359945T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=115985;gnomADv4_1_AC_joint_XX=59114;gnomADv4_1_AC_joint_XY=56871;gnomADv4_1_AF_grpmax_joint=0.8846;gnomADv4_1_AF_joint=0.763109;gnomADv4_1_AF_joint_XX=0.760543;gnomADv4_1_AF_joint_XY=0.765795;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=44628;gnomADv4_1_nhomalt_joint_XX=22692;gnomADv4_1_nhomalt_joint_XY=21936;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27360118 chr22_27360118_T_C T C 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.481;CADD_Rawscore=-0.202654;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-19068T>C|||||||rs2142618||1||||4||||||||Ensembl||T|T||||chr22:g.27360118T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs2142618|2491|1||||||||||||Ensembl||T|T||||chr22:g.27360118T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs2142618|2490|1||||||||||||Ensembl||T|T||||chr22:g.27360118T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs2142618|2490|1||||||||||||Ensembl||T|T||||chr22:g.27360118T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs2142618|2494|1||||||||||||Ensembl||T|T||||chr22:g.27360118T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs2142618|2490|1||||||||||||Ensembl||T|T||||chr22:g.27360118T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs2142618|2490|1||||||||||||Ensembl||T|T||||chr22:g.27360118T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs2142618|2494|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27360118T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41937;gnomADv4_1_AC_joint_XX=21518;gnomADv4_1_AC_joint_XY=20419;gnomADv4_1_AF_grpmax_joint=0.348929;gnomADv4_1_AF_joint=0.275695;gnomADv4_1_AF_joint_XX=0.276695;gnomADv4_1_AF_joint_XY=0.274648;gnomADv4_1_AN_grpmax_joint=67988;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6413;gnomADv4_1_nhomalt_joint_XX=3353;gnomADv4_1_nhomalt_joint_XY=3060;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27360149 chr22_27360149_T_C T C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=5.011;CADD_Rawscore=0.456896;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-19037T>C|||||||rs6005389||1||||4||||||||Ensembl||T|T||||chr22:g.27360149T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs6005389|2522|1||||||||||||Ensembl||T|T||||chr22:g.27360149T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs6005389|2521|1||||||||||||Ensembl||T|T||||chr22:g.27360149T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs6005389|2521|1||||||||||||Ensembl||T|T||||chr22:g.27360149T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs6005389|2525|1||||||||||||Ensembl||T|T||||chr22:g.27360149T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs6005389|2521|1||||||||||||Ensembl||T|T||||chr22:g.27360149T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs6005389|2521|1||||||||||||Ensembl||T|T||||chr22:g.27360149T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs6005389|2525|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27360149T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53773;gnomADv4_1_AC_joint_XX=27381;gnomADv4_1_AC_joint_XY=26392;gnomADv4_1_AF_grpmax_joint=0.42517;gnomADv4_1_AF_joint=0.353612;gnomADv4_1_AF_joint_XX=0.352303;gnomADv4_1_AF_joint_XY=0.354979;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9663;gnomADv4_1_nhomalt_joint_XX=4903;gnomADv4_1_nhomalt_joint_XY=4760;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27360167 chr22_27360167_CA_C CA C 53 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.536;CADDIndel_Rawscore=-0.175729;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-19018del|||||||rs76305768||1||||4||||||||Ensembl||A|A||||chr22:g.27360168del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs76305768|2541|1||||||||||||Ensembl||A|A||||chr22:g.27360168del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs76305768|2540|1||||||||||||Ensembl||A|A||||chr22:g.27360168del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs76305768|2540|1||||||||||||Ensembl||A|A||||chr22:g.27360168del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs76305768|2544|1||||||||||||Ensembl||A|A||||chr22:g.27360168del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs76305768|2540|1||||||||||||Ensembl||A|A||||chr22:g.27360168del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs76305768|2540|1||||||||||||Ensembl||A|A||||chr22:g.27360168del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs76305768|2544|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27360168del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25351;gnomADv4_1_AC_joint_XX=12551;gnomADv4_1_AC_joint_XY=12800;gnomADv4_1_AF_grpmax_joint=0.335659;gnomADv4_1_AF_joint=0.166623;gnomADv4_1_AF_joint_XX=0.161407;gnomADv4_1_AF_joint_XY=0.172075;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2343;gnomADv4_1_nhomalt_joint_XX=1135;gnomADv4_1_nhomalt_joint_XY=1208;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27360174 chr22_27360174_G_A G A 55 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.73;CADD_Rawscore=0.341268;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-19012G>A|||||||rs5997229||1||||4||||||||Ensembl||G|G||||chr22:g.27360174G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs5997229|2547|1||||||||||||Ensembl||G|G||||chr22:g.27360174G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs5997229|2546|1||||||||||||Ensembl||G|G||||chr22:g.27360174G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs5997229|2546|1||||||||||||Ensembl||G|G||||chr22:g.27360174G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs5997229|2550|1||||||||||||Ensembl||G|G||||chr22:g.27360174G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs5997229|2546|1||||||||||||Ensembl||G|G||||chr22:g.27360174G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs5997229|2546|1||||||||||||Ensembl||G|G||||chr22:g.27360174G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs5997229|2550|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27360174G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41793;gnomADv4_1_AC_joint_XX=21435;gnomADv4_1_AC_joint_XY=20358;gnomADv4_1_AF_grpmax_joint=0.348779;gnomADv4_1_AF_joint=0.274788;gnomADv4_1_AF_joint_XX=0.275635;gnomADv4_1_AF_joint_XY=0.273901;gnomADv4_1_AN_grpmax_joint=68000;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6379;gnomADv4_1_nhomalt_joint_XX=3328;gnomADv4_1_nhomalt_joint_XY=3051;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27360339 chr22_27360339_C_T C T 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=3.198;CADD_Rawscore=0.293172;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-18847C>T|||||||rs2142619||1||||4||||||||Ensembl||C|C||||chr22:g.27360339C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs2142619|2712|1||||||||||||Ensembl||C|C||||chr22:g.27360339C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs2142619|2711|1||||||||||||Ensembl||C|C||||chr22:g.27360339C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs2142619|2711|1||||||||||||Ensembl||C|C||||chr22:g.27360339C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs2142619|2715|1||||||||||||Ensembl||C|C||||chr22:g.27360339C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs2142619|2711|1||||||||||||Ensembl||C|C||||chr22:g.27360339C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs2142619|2711|1||||||||||||Ensembl||C|C||||chr22:g.27360339C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs2142619|2715|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27360339C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45532;gnomADv4_1_AC_joint_XX=23426;gnomADv4_1_AC_joint_XY=22106;gnomADv4_1_AF_grpmax_joint=0.376714;gnomADv4_1_AF_joint=0.299549;gnomADv4_1_AF_joint_XX=0.3014;gnomADv4_1_AF_joint_XY=0.297612;gnomADv4_1_AN_grpmax_joint=67956;gnomADv4_1_AN_joint=152002;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7522;gnomADv4_1_nhomalt_joint_XX=3934;gnomADv4_1_nhomalt_joint_XY=3588;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27360478 chr22_27360478_C_T C T 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.16;CADD_Rawscore=0.020855;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-18708C>T|||||||rs2179100||1||||4||||||||Ensembl||C|C||||chr22:g.27360478C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs2179100|2851|1||||||||||||Ensembl||C|C||||chr22:g.27360478C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs2179100|2850|1||||||||||||Ensembl||C|C||||chr22:g.27360478C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs2179100|2850|1||||||||||||Ensembl||C|C||||chr22:g.27360478C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs2179100|2854|1||||||||||||Ensembl||C|C||||chr22:g.27360478C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs2179100|2850|1||||||||||||Ensembl||C|C||||chr22:g.27360478C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs2179100|2850|1||||||||||||Ensembl||C|C||||chr22:g.27360478C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs2179100|2854|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27360478C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38898;gnomADv4_1_AC_joint_XX=19993;gnomADv4_1_AC_joint_XY=18905;gnomADv4_1_AF_grpmax_joint=0.333672;gnomADv4_1_AF_joint=0.255709;gnomADv4_1_AF_joint_XX=0.257125;gnomADv4_1_AF_joint_XY=0.254229;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5648;gnomADv4_1_nhomalt_joint_XX=2966;gnomADv4_1_nhomalt_joint_XY=2682;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27360552 chr22_27360552_A_G A G 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=3.928;CADD_Rawscore=0.358882;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-18634A>G|||||||rs2880497||1||||4||||||||Ensembl||A|A||||chr22:g.27360552A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs2880497|2925|1||||||||||||Ensembl||A|A||||chr22:g.27360552A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs2880497|2924|1||||||||||||Ensembl||A|A||||chr22:g.27360552A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs2880497|2924|1||||||||||||Ensembl||A|A||||chr22:g.27360552A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs2880497|2928|1||||||||||||Ensembl||A|A||||chr22:g.27360552A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs2880497|2924|1||||||||||||Ensembl||A|A||||chr22:g.27360552A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs2880497|2924|1||||||||||||Ensembl||A|A||||chr22:g.27360552A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs2880497|2928|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27360552A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46067;gnomADv4_1_AC_joint_XX=23683;gnomADv4_1_AC_joint_XY=22384;gnomADv4_1_AF_grpmax_joint=0.377027;gnomADv4_1_AF_joint=0.302929;gnomADv4_1_AF_joint_XX=0.304644;gnomADv4_1_AF_joint_XY=0.301135;gnomADv4_1_AN_grpmax_joint=67958;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7623;gnomADv4_1_nhomalt_joint_XX=3971;gnomADv4_1_nhomalt_joint_XY=3652;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27361116 chr22_27361116_C_A C A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.495;CADD_Rawscore=-0.19582;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-18070C>A|||||||rs13056418||1||||4||||||||Ensembl||C|C||||chr22:g.27361116C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs13056418|3489|1||||||||||||Ensembl||C|C||||chr22:g.27361116C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs13056418|3488|1||||||||||||Ensembl||C|C||||chr22:g.27361116C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs13056418|3488|1||||||||||||Ensembl||C|C||||chr22:g.27361116C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs13056418|3492|1||||||||||||Ensembl||C|C||||chr22:g.27361116C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs13056418|3488|1||||||||||||Ensembl||C|C||||chr22:g.27361116C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs13056418|3488|1||||||||||||Ensembl||C|C||||chr22:g.27361116C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs13056418|3492|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27361116C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27185;gnomADv4_1_AC_joint_XX=14160;gnomADv4_1_AC_joint_XY=13025;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.178762;gnomADv4_1_AF_joint_XX=0.18215;gnomADv4_1_AF_joint_XY=0.175218;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2554;gnomADv4_1_nhomalt_joint_XX=1362;gnomADv4_1_nhomalt_joint_XY=1192;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27361591 chr22_27361591_A_G A G 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.148;CADD_Rawscore=0.018161;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-17595A>G|||||||rs57232053||1||||4||||||||Ensembl||A|A||||chr22:g.27361591A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs57232053|3964|1||||||||||||Ensembl||A|A||||chr22:g.27361591A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs57232053|3963|1||||||||||||Ensembl||A|A||||chr22:g.27361591A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs57232053|3963|1||||||||||||Ensembl||A|A||||chr22:g.27361591A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs57232053|3967|1||||||||||||Ensembl||A|A||||chr22:g.27361591A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs57232053|3963|1||||||||||||Ensembl||A|A||||chr22:g.27361591A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs57232053|3963|1||||||||||||Ensembl||A|A||||chr22:g.27361591A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs57232053|3967|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27361591A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19509;gnomADv4_1_AC_joint_XX=9526;gnomADv4_1_AC_joint_XY=9983;gnomADv4_1_AF_grpmax_joint=0.334495;gnomADv4_1_AF_joint=0.128222;gnomADv4_1_AF_joint_XX=0.122496;gnomADv4_1_AF_joint_XY=0.134209;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1448;gnomADv4_1_nhomalt_joint_XX=665;gnomADv4_1_nhomalt_joint_XY=783;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27361741 chr22_27361741_GT_G GT G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.339;CADDIndel_Rawscore=-0.291028;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-17443del|||||||rs34109668||1||||4||||||||Ensembl||T|T|||1|chr22:g.27361743del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs34109668|4115|1||||||||||||Ensembl||T|T||||chr22:g.27361743del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs34109668|4114|1||||||||||||Ensembl||T|T||||chr22:g.27361743del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs34109668|4114|1||||||||||||Ensembl||T|T||||chr22:g.27361743del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs34109668|4118|1||||||||||||Ensembl||T|T||||chr22:g.27361743del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs34109668|4114|1||||||||||||Ensembl||T|T||||chr22:g.27361743del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs34109668|4114|1||||||||||||Ensembl||T|T||||chr22:g.27361743del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs34109668|4118|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27361743del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50022;gnomADv4_1_AC_joint_XX=25423;gnomADv4_1_AC_joint_XY=24599;gnomADv4_1_AF_grpmax_joint=0.386361;gnomADv4_1_AF_joint=0.329218;gnomADv4_1_AF_joint_XX=0.327295;gnomADv4_1_AF_joint_XY=0.331228;gnomADv4_1_AN_grpmax_joint=41456;gnomADv4_1_AN_joint=151942;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8363;gnomADv4_1_nhomalt_joint_XX=4214;gnomADv4_1_nhomalt_joint_XY=4149;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27362137 chr22_27362137_C_T C T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.328;CADD_Rawscore=0.056194;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-17049C>T|||||||rs5762089||1||||4||||||||Ensembl||C|C||||chr22:g.27362137C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs5762089|4510|1||||||||||||Ensembl||C|C||||chr22:g.27362137C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs5762089|4509|1||||||||||||Ensembl||C|C||||chr22:g.27362137C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs5762089|4509|1||||||||||||Ensembl||C|C||||chr22:g.27362137C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs5762089|4513|1||||||||||||Ensembl||C|C||||chr22:g.27362137C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs5762089|4509|1||||||||||||Ensembl||C|C||||chr22:g.27362137C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs5762089|4509|1||||||||||||Ensembl||C|C||||chr22:g.27362137C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs5762089|4513|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27362137C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70942;gnomADv4_1_AC_joint_XX=36009;gnomADv4_1_AC_joint_XY=34933;gnomADv4_1_AF_grpmax_joint=0.677782;gnomADv4_1_AF_joint=0.466877;gnomADv4_1_AF_joint_XX=0.463556;gnomADv4_1_AF_joint_XY=0.470351;gnomADv4_1_AN_grpmax_joint=41444;gnomADv4_1_AN_joint=151950;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18429;gnomADv4_1_nhomalt_joint_XX=9279;gnomADv4_1_nhomalt_joint_XY=9150;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27362239 chr22_27362239_T_C T C 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=2.934;CADD_Rawscore=0.268088;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-16947T>C|||||||rs5762090||1||||4||||||||Ensembl||T|T||||chr22:g.27362239T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs5762090|4612|1||||||||||||Ensembl||T|T||||chr22:g.27362239T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs5762090|4611|1||||||||||||Ensembl||T|T||||chr22:g.27362239T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs5762090|4611|1||||||||||||Ensembl||T|T||||chr22:g.27362239T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs5762090|4615|1||||||||||||Ensembl||T|T||||chr22:g.27362239T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs5762090|4611|1||||||||||||Ensembl||T|T||||chr22:g.27362239T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs5762090|4611|1||||||||||||Ensembl||T|T||||chr22:g.27362239T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs5762090|4615|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27362239T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70907;gnomADv4_1_AC_joint_XX=36004;gnomADv4_1_AC_joint_XY=34903;gnomADv4_1_AF_grpmax_joint=0.677797;gnomADv4_1_AF_joint=0.466727;gnomADv4_1_AF_joint_XX=0.463455;gnomADv4_1_AF_joint_XY=0.47015;gnomADv4_1_AN_grpmax_joint=41480;gnomADv4_1_AN_joint=151924;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18424;gnomADv4_1_nhomalt_joint_XX=9282;gnomADv4_1_nhomalt_joint_XY=9142;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27362344 chr22_27362344_A_G A G 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.26;CADD_Rawscore=0.480386;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-16842A>G|||||||rs11705625||1||||4||||||||Ensembl||A|A||||chr22:g.27362344A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs11705625|4717|1||||||||||||Ensembl||A|A||||chr22:g.27362344A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs11705625|4716|1||||||||||||Ensembl||A|A||||chr22:g.27362344A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs11705625|4716|1||||||||||||Ensembl||A|A||||chr22:g.27362344A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs11705625|4720|1||||||||||||Ensembl||A|A||||chr22:g.27362344A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs11705625|4716|1||||||||||||Ensembl||A|A||||chr22:g.27362344A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs11705625|4716|1||||||||||||Ensembl||A|A||||chr22:g.27362344A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs11705625|4720|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27362344A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27143;gnomADv4_1_AC_joint_XX=14136;gnomADv4_1_AC_joint_XY=13007;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.178457;gnomADv4_1_AF_joint_XX=0.181884;gnomADv4_1_AF_joint_XY=0.174877;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2534;gnomADv4_1_nhomalt_joint_XX=1352;gnomADv4_1_nhomalt_joint_XY=1182;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27362352 chr22_27362352_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.129;CADD_Rawscore=0.18052;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-16834T>C|||||||rs5762091||1||||4||||||||Ensembl||T|T||||chr22:g.27362352T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs5762091|4725|1||||||||||||Ensembl||T|T||||chr22:g.27362352T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs5762091|4724|1||||||||||||Ensembl||T|T||||chr22:g.27362352T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs5762091|4724|1||||||||||||Ensembl||T|T||||chr22:g.27362352T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs5762091|4728|1||||||||||||Ensembl||T|T||||chr22:g.27362352T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs5762091|4724|1||||||||||||Ensembl||T|T||||chr22:g.27362352T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs5762091|4724|1||||||||||||Ensembl||T|T||||chr22:g.27362352T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs5762091|4728|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27362352T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70948;gnomADv4_1_AC_joint_XX=36004;gnomADv4_1_AC_joint_XY=34944;gnomADv4_1_AF_grpmax_joint=0.677826;gnomADv4_1_AF_joint=0.466689;gnomADv4_1_AF_joint_XX=0.463396;gnomADv4_1_AF_joint_XY=0.470132;gnomADv4_1_AN_grpmax_joint=41490;gnomADv4_1_AN_joint=152024;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18431;gnomADv4_1_nhomalt_joint_XX=9278;gnomADv4_1_nhomalt_joint_XY=9153;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27362529 chr22_27362529_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=6.496;CADD_Rawscore=0.604237;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-16657T>C|||||||rs7291495||1||||4||||||||Ensembl||T|T||||chr22:g.27362529T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000668323|lncRNA||||||||||rs7291495|4902|1||||||||||||Ensembl||T|T||||chr22:g.27362529T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000669277|lncRNA||||||||||rs7291495|4901|1||||||||||||Ensembl||T|T||||chr22:g.27362529T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000692427|lncRNA||||||||||rs7291495|4901|1||||||||||||Ensembl||T|T||||chr22:g.27362529T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786369|lncRNA||||||||||rs7291495|4905|1||||||||||||Ensembl||T|T||||chr22:g.27362529T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786370|lncRNA||||||||||rs7291495|4901|1||||||||||||Ensembl||T|T||||chr22:g.27362529T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000786371|lncRNA||||||||||rs7291495|4901|1||||||||||||Ensembl||T|T||||chr22:g.27362529T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC102724900|102724900|Transcript|XR_430432.4|lncRNA||||||||||rs7291495|4905|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27362529T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000413244,ENST00000668323,ENST00000669277,ENST00000692427,ENST00000786369,ENST00000786370,ENST00000786371,XR_430432.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,ENSG00000230051,102724900;VEP_SYMBOL=.,.,.,.,.,.,.,LOC102724900;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70880;gnomADv4_1_AC_joint_XX=35978;gnomADv4_1_AC_joint_XY=34902;gnomADv4_1_AF_grpmax_joint=0.677613;gnomADv4_1_AF_joint=0.466703;gnomADv4_1_AF_joint_XX=0.463335;gnomADv4_1_AF_joint_XY=0.470225;gnomADv4_1_AN_grpmax_joint=41444;gnomADv4_1_AN_joint=151874;gnomADv4_1_AN_joint_XX=77650;gnomADv4_1_AN_joint_XY=74224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18420;gnomADv4_1_nhomalt_joint_XX=9274;gnomADv4_1_nhomalt_joint_XY=9146;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27362745 chr22_27362745_T_G T G 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=4.997;CADD_Rawscore=0.455602;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-16441T>G|||||||rs12158925||1||||4||||||||Ensembl||T|T||||chr22:g.27362745T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70854;gnomADv4_1_AC_joint_XX=35980;gnomADv4_1_AC_joint_XY=34874;gnomADv4_1_AF_grpmax_joint=0.677387;gnomADv4_1_AF_joint=0.466482;gnomADv4_1_AF_joint_XX=0.463337;gnomADv4_1_AF_joint_XY=0.469772;gnomADv4_1_AN_grpmax_joint=41480;gnomADv4_1_AN_joint=151890;gnomADv4_1_AN_joint_XX=77654;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18405;gnomADv4_1_nhomalt_joint_XX=9277;gnomADv4_1_nhomalt_joint_XY=9128;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27362832 chr22_27362832_TC_T TC T 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=1.126;CADDIndel_Rawscore=0.012952;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-16353del|||||||rs35538132||1||||4||||||||Ensembl||C|C||||chr22:g.27362833del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70733;gnomADv4_1_AC_joint_XX=35913;gnomADv4_1_AC_joint_XY=34820;gnomADv4_1_AF_grpmax_joint=0.677444;gnomADv4_1_AF_joint=0.4663;gnomADv4_1_AF_joint_XX=0.463131;gnomADv4_1_AF_joint_XY=0.469614;gnomADv4_1_AN_grpmax_joint=41354;gnomADv4_1_AN_joint=151690;gnomADv4_1_AN_joint_XX=77544;gnomADv4_1_AN_joint_XY=74146;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18347;gnomADv4_1_nhomalt_joint_XX=9244;gnomADv4_1_nhomalt_joint_XY=9103;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27362880 chr22_27362880_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.602;CADD_Rawscore=0.105466;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-16306T>C|||||||rs6005392||1||||4||||||||Ensembl||T|T||||chr22:g.27362880T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70627;gnomADv4_1_AC_joint_XX=35875;gnomADv4_1_AC_joint_XY=34752;gnomADv4_1_AF_grpmax_joint=0.677338;gnomADv4_1_AF_joint=0.466142;gnomADv4_1_AF_joint_XX=0.462951;gnomADv4_1_AF_joint_XY=0.469482;gnomADv4_1_AN_grpmax_joint=41294;gnomADv4_1_AN_joint=151514;gnomADv4_1_AN_joint_XX=77492;gnomADv4_1_AN_joint_XY=74022;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18328;gnomADv4_1_nhomalt_joint_XX=9242;gnomADv4_1_nhomalt_joint_XY=9086;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27362930 chr22_27362930_A_G A G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.386;CADD_Rawscore=0.211097;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-16256A>G|||||||rs6005393||1||||4||||||||Ensembl||A|A||||chr22:g.27362930A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70549;gnomADv4_1_AC_joint_XX=35808;gnomADv4_1_AC_joint_XY=34741;gnomADv4_1_AF_grpmax_joint=0.67697;gnomADv4_1_AF_joint=0.465947;gnomADv4_1_AF_joint_XX=0.462588;gnomADv4_1_AF_joint_XY=0.46946;gnomADv4_1_AN_grpmax_joint=41250;gnomADv4_1_AN_joint=151410;gnomADv4_1_AN_joint_XX=77408;gnomADv4_1_AN_joint_XY=74002;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18276;gnomADv4_1_nhomalt_joint_XX=9203;gnomADv4_1_nhomalt_joint_XY=9073;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27362933 chr22_27362933_A_G A G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.132;CADD_Rawscore=0.180949;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-16253A>G|||||||rs6005394||1||||4||||||||Ensembl||A|A||||chr22:g.27362933A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70551;gnomADv4_1_AC_joint_XX=35815;gnomADv4_1_AC_joint_XY=34736;gnomADv4_1_AF_grpmax_joint=0.676646;gnomADv4_1_AF_joint=0.465812;gnomADv4_1_AF_joint_XX=0.462439;gnomADv4_1_AF_joint_XY=0.469342;gnomADv4_1_AN_grpmax_joint=41286;gnomADv4_1_AN_joint=151458;gnomADv4_1_AN_joint_XX=77448;gnomADv4_1_AN_joint_XY=74010;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18275;gnomADv4_1_nhomalt_joint_XX=9205;gnomADv4_1_nhomalt_joint_XY=9070;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27362977 chr22_27362977_C_G C G 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.073;CADD_Rawscore=0.000518;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-16209C>G|||||||rs6005395||1||||4||||||||Ensembl||C|C||||chr22:g.27362977C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=69758;gnomADv4_1_AC_joint_XX=35380;gnomADv4_1_AC_joint_XY=34378;gnomADv4_1_AF_grpmax_joint=0.654383;gnomADv4_1_AF_joint=0.460018;gnomADv4_1_AF_joint_XX=0.456269;gnomADv4_1_AF_joint_XY=0.463941;gnomADv4_1_AN_grpmax_joint=41410;gnomADv4_1_AN_joint=151642;gnomADv4_1_AN_joint_XX=77542;gnomADv4_1_AN_joint_XY=74100;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17709;gnomADv4_1_nhomalt_joint_XX=8892;gnomADv4_1_nhomalt_joint_XY=8817;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27363338 chr22_27363338_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.729;CADD_Rawscore=0.125457;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-15848G>A|||||||rs2142620||1||||4||||||||Ensembl||G|G||||chr22:g.27363338G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70918;gnomADv4_1_AC_joint_XX=35991;gnomADv4_1_AC_joint_XY=34927;gnomADv4_1_AF_grpmax_joint=0.678296;gnomADv4_1_AF_joint=0.467199;gnomADv4_1_AF_joint_XX=0.463766;gnomADv4_1_AF_joint_XY=0.47079;gnomADv4_1_AN_grpmax_joint=41448;gnomADv4_1_AN_joint=151794;gnomADv4_1_AN_joint_XX=77606;gnomADv4_1_AN_joint_XY=74188;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18432;gnomADv4_1_nhomalt_joint_XX=9280;gnomADv4_1_nhomalt_joint_XY=9152;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27363443 chr22_27363443_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.627;CADD_Rawscore=0.109435;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-15743G>A|||||||rs2142621||1||||4||||||||Ensembl||G|G||||chr22:g.27363443G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70897;gnomADv4_1_AC_joint_XX=35987;gnomADv4_1_AC_joint_XY=34910;gnomADv4_1_AF_grpmax_joint=0.677922;gnomADv4_1_AF_joint=0.466815;gnomADv4_1_AF_joint_XX=0.463583;gnomADv4_1_AF_joint_XY=0.470194;gnomADv4_1_AN_grpmax_joint=41434;gnomADv4_1_AN_joint=151874;gnomADv4_1_AN_joint_XX=77628;gnomADv4_1_AN_joint_XY=74246;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18421;gnomADv4_1_nhomalt_joint_XX=9281;gnomADv4_1_nhomalt_joint_XY=9140;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27363730 chr22_27363730_T_C T C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=5.096;CADD_Rawscore=0.464833;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-15456T>C|||||||rs13057789||1||||4||||||||Ensembl||T|T||||chr22:g.27363730T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=50032;gnomADv4_1_AC_joint_XX=25423;gnomADv4_1_AC_joint_XY=24609;gnomADv4_1_AF_grpmax_joint=0.387091;gnomADv4_1_AF_joint=0.329366;gnomADv4_1_AF_joint_XX=0.327456;gnomADv4_1_AF_joint_XY=0.331363;gnomADv4_1_AN_grpmax_joint=41458;gnomADv4_1_AN_joint=151904;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8379;gnomADv4_1_nhomalt_joint_XX=4222;gnomADv4_1_nhomalt_joint_XY=4157;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27363972 chr22_27363972_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.771;CADD_Rawscore=-0.084631;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-15214A>G|||||||rs5997232||1||||4||||||||Ensembl||A|A||||chr22:g.27363972A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70855;gnomADv4_1_AC_joint_XX=35953;gnomADv4_1_AC_joint_XY=34902;gnomADv4_1_AF_grpmax_joint=0.677695;gnomADv4_1_AF_joint=0.466704;gnomADv4_1_AF_joint_XX=0.463288;gnomADv4_1_AF_joint_XY=0.470276;gnomADv4_1_AN_grpmax_joint=41408;gnomADv4_1_AN_joint=151820;gnomADv4_1_AN_joint_XX=77604;gnomADv4_1_AN_joint_XY=74216;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18409;gnomADv4_1_nhomalt_joint_XX=9265;gnomADv4_1_nhomalt_joint_XY=9144;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27364042 chr22_27364042_T_C T C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=4.739;CADD_Rawscore=0.431665;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-15144T>C|||||||rs5997233||1||||4||||||||Ensembl||T|T||||chr22:g.27364042T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70772;gnomADv4_1_AC_joint_XX=35915;gnomADv4_1_AC_joint_XY=34857;gnomADv4_1_AF_grpmax_joint=0.677403;gnomADv4_1_AF_joint=0.466391;gnomADv4_1_AF_joint_XX=0.463073;gnomADv4_1_AF_joint_XY=0.46986;gnomADv4_1_AN_grpmax_joint=41386;gnomADv4_1_AN_joint=151744;gnomADv4_1_AN_joint_XX=77558;gnomADv4_1_AN_joint_XY=74186;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18362;gnomADv4_1_nhomalt_joint_XX=9249;gnomADv4_1_nhomalt_joint_XY=9113;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27364058 chr22_27364058_G_A G A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.095;CADD_Rawscore=0.005787;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-15128G>A|||||||rs6005396||1||||4||||||||Ensembl||G|G||||chr22:g.27364058G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70763;gnomADv4_1_AC_joint_XX=35918;gnomADv4_1_AC_joint_XY=34845;gnomADv4_1_AF_grpmax_joint=0.678043;gnomADv4_1_AF_joint=0.466762;gnomADv4_1_AF_joint_XX=0.463422;gnomADv4_1_AF_joint_XY=0.470256;gnomADv4_1_AN_grpmax_joint=41344;gnomADv4_1_AN_joint=151604;gnomADv4_1_AN_joint_XX=77506;gnomADv4_1_AN_joint_XY=74098;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18368;gnomADv4_1_nhomalt_joint_XX=9253;gnomADv4_1_nhomalt_joint_XY=9115;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27364075 chr22_27364075_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.882;CADD_Rawscore=0.147833;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-15111T>C|||||||rs5997234||1||||4||||||||Ensembl||T|T||||chr22:g.27364075T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70786;gnomADv4_1_AC_joint_XX=35916;gnomADv4_1_AC_joint_XY=34870;gnomADv4_1_AF_grpmax_joint=0.677629;gnomADv4_1_AF_joint=0.466483;gnomADv4_1_AF_joint_XX=0.463157;gnomADv4_1_AF_joint_XY=0.469959;gnomADv4_1_AN_grpmax_joint=41384;gnomADv4_1_AN_joint=151744;gnomADv4_1_AN_joint_XX=77546;gnomADv4_1_AN_joint_XY=74198;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18369;gnomADv4_1_nhomalt_joint_XX=9248;gnomADv4_1_nhomalt_joint_XY=9121;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27364100 chr22_27364100_C_G C G 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.026;CADD_Rawscore=-0.011257;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-15086C>G|||||||rs5997235||1||||4||||||||Ensembl||C|C||||chr22:g.27364100C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70862;gnomADv4_1_AC_joint_XX=35961;gnomADv4_1_AC_joint_XY=34901;gnomADv4_1_AF_grpmax_joint=0.677761;gnomADv4_1_AF_joint=0.46699;gnomADv4_1_AF_joint_XX=0.463594;gnomADv4_1_AF_joint_XY=0.470541;gnomADv4_1_AN_grpmax_joint=41432;gnomADv4_1_AN_joint=151742;gnomADv4_1_AN_joint_XX=77570;gnomADv4_1_AN_joint_XY=74172;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18406;gnomADv4_1_nhomalt_joint_XX=9270;gnomADv4_1_nhomalt_joint_XY=9136;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27364125 chr22_27364125_T_C T C 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.515;CADD_Rawscore=-0.185566;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-15061T>C|||||||rs5997236||1||||4||||||||Ensembl||T|T||||chr22:g.27364125T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=101766;gnomADv4_1_AC_joint_XX=52104;gnomADv4_1_AC_joint_XY=49662;gnomADv4_1_AF_grpmax_joint=0.810351;gnomADv4_1_AF_joint=0.669954;gnomADv4_1_AF_joint_XX=0.67089;gnomADv4_1_AF_joint_XY=0.668975;gnomADv4_1_AN_grpmax_joint=41482;gnomADv4_1_AN_joint=151900;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=34863;gnomADv4_1_nhomalt_joint_XX=17828;gnomADv4_1_nhomalt_joint_XY=17035;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27364206 chr22_27364206_A_C A C 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=5.266;CADD_Rawscore=0.48098;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-14980A>C|||||||rs6005397||1||||4||||||||Ensembl||A|A||||chr22:g.27364206A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70879;gnomADv4_1_AC_joint_XX=35964;gnomADv4_1_AC_joint_XY=34915;gnomADv4_1_AF_grpmax_joint=0.67794;gnomADv4_1_AF_joint=0.466758;gnomADv4_1_AF_joint_XX=0.46331;gnomADv4_1_AF_joint_XY=0.470362;gnomADv4_1_AN_grpmax_joint=41424;gnomADv4_1_AN_joint=151854;gnomADv4_1_AN_joint_XX=77624;gnomADv4_1_AN_joint_XY=74230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18416;gnomADv4_1_nhomalt_joint_XX=9270;gnomADv4_1_nhomalt_joint_XY=9146;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27364421 chr22_27364421_A_T A T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.117;CADD_Rawscore=0.179079;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-14765A>T|||||||rs5997237||1||||4||||||||Ensembl||A|A||||chr22:g.27364421A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70922;gnomADv4_1_AC_joint_XX=35989;gnomADv4_1_AC_joint_XY=34933;gnomADv4_1_AF_grpmax_joint=0.678096;gnomADv4_1_AF_joint=0.466912;gnomADv4_1_AF_joint_XX=0.46337;gnomADv4_1_AF_joint_XY=0.470618;gnomADv4_1_AN_grpmax_joint=41472;gnomADv4_1_AN_joint=151896;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18431;gnomADv4_1_nhomalt_joint_XX=9278;gnomADv4_1_nhomalt_joint_XY=9153;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27364536 chr22_27364536_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.813;CADD_Rawscore=0.138012;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-14650C>T|||||||rs6005398||1||||4||||||||Ensembl||C|C||||chr22:g.27364536C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70930;gnomADv4_1_AC_joint_XX=36006;gnomADv4_1_AC_joint_XY=34924;gnomADv4_1_AF_grpmax_joint=0.67848;gnomADv4_1_AF_joint=0.467284;gnomADv4_1_AF_joint_XX=0.463792;gnomADv4_1_AF_joint_XY=0.47094;gnomADv4_1_AN_grpmax_joint=41450;gnomADv4_1_AN_joint=151792;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74158;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18434;gnomADv4_1_nhomalt_joint_XX=9283;gnomADv4_1_nhomalt_joint_XY=9151;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27364835 chr22_27364835_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=4.298;CADD_Rawscore=0.391727;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-14351A>G|||||||rs2342936||1||||4||||||||Ensembl||A|A||||chr22:g.27364835A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70109;gnomADv4_1_AC_joint_XX=35576;gnomADv4_1_AC_joint_XY=34533;gnomADv4_1_AF_grpmax_joint=0.659623;gnomADv4_1_AF_joint=0.461565;gnomADv4_1_AF_joint_XX=0.45817;gnomADv4_1_AF_joint_XY=0.465116;gnomADv4_1_AN_grpmax_joint=41454;gnomADv4_1_AN_joint=151894;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74246;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17895;gnomADv4_1_nhomalt_joint_XX=9006;gnomADv4_1_nhomalt_joint_XY=8889;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27364893 chr22_27364893_C_T C T 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=2.017;CADD_Rawscore=0.166222;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-14293C>T|||||||rs2342937||1||||4||||||||Ensembl||C|C||||chr22:g.27364893C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=68818;gnomADv4_1_AC_joint_XX=35062;gnomADv4_1_AC_joint_XY=33756;gnomADv4_1_AF_grpmax_joint=0.677735;gnomADv4_1_AF_joint=0.459608;gnomADv4_1_AF_joint_XX=0.457227;gnomADv4_1_AF_joint_XY=0.462107;gnomADv4_1_AN_grpmax_joint=41348;gnomADv4_1_AN_joint=149732;gnomADv4_1_AN_joint_XX=76684;gnomADv4_1_AN_joint_XY=73048;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17378;gnomADv4_1_nhomalt_joint_XX=8821;gnomADv4_1_nhomalt_joint_XY=8557;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27364895 chr22_27364895_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=6.6;CADD_Rawscore=0.615291;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-14291T>C|||||||rs2342938||1||||4||||||||Ensembl||T|T||||chr22:g.27364895T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=49797;gnomADv4_1_AC_joint_XX=25301;gnomADv4_1_AC_joint_XY=24496;gnomADv4_1_AF_grpmax_joint=0.383081;gnomADv4_1_AF_joint=0.32784;gnomADv4_1_AF_joint_XX=0.325876;gnomADv4_1_AF_joint_XY=0.329895;gnomADv4_1_AN_grpmax_joint=41456;gnomADv4_1_AN_joint=151894;gnomADv4_1_AN_joint_XX=77640;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8275;gnomADv4_1_nhomalt_joint_XX=4169;gnomADv4_1_nhomalt_joint_XY=4106;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27365167 chr22_27365167_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=4.361;CADD_Rawscore=0.397398;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-14019G>A|||||||rs2342939||1||||4||||||||Ensembl||G|G||||chr22:g.27365167G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70813;gnomADv4_1_AC_joint_XX=35933;gnomADv4_1_AC_joint_XY=34880;gnomADv4_1_AF_grpmax_joint=0.678007;gnomADv4_1_AF_joint=0.46703;gnomADv4_1_AF_joint_XX=0.463484;gnomADv4_1_AF_joint_XY=0.470741;gnomADv4_1_AN_grpmax_joint=41386;gnomADv4_1_AN_joint=151624;gnomADv4_1_AN_joint_XX=77528;gnomADv4_1_AN_joint_XY=74096;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18386;gnomADv4_1_nhomalt_joint_XX=9254;gnomADv4_1_nhomalt_joint_XY=9132;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27365186 chr22_27365186_C_A C A 65 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=65;CADD_PHREDscore=0.397;CADD_Rawscore=-0.251286;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-14000C>A|||||||rs2880498||1||||4||||||||Ensembl||C|C||||chr22:g.27365186C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=118019;gnomADv4_1_AC_joint_XX=60211;gnomADv4_1_AC_joint_XY=57808;gnomADv4_1_AF_grpmax_joint=0.886214;gnomADv4_1_AF_joint=0.77688;gnomADv4_1_AF_joint_XX=0.775196;gnomADv4_1_AF_joint_XY=0.778643;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151914;gnomADv4_1_AN_joint_XX=77672;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46366;gnomADv4_1_nhomalt_joint_XX=23622;gnomADv4_1_nhomalt_joint_XY=22744;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27365285 chr22_27365285_T_G T G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=5.523;CADD_Rawscore=0.505798;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-13901T>G|||||||rs9625210||1||||4||||||||Ensembl||T|T||||chr22:g.27365285T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70857;gnomADv4_1_AC_joint_XX=35980;gnomADv4_1_AC_joint_XY=34877;gnomADv4_1_AF_grpmax_joint=0.677647;gnomADv4_1_AF_joint=0.466465;gnomADv4_1_AF_joint_XX=0.463218;gnomADv4_1_AF_joint_XY=0.469863;gnomADv4_1_AN_grpmax_joint=41436;gnomADv4_1_AN_joint=151902;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18396;gnomADv4_1_nhomalt_joint_XX=9268;gnomADv4_1_nhomalt_joint_XY=9128;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27365547 chr22_27365547_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.256;CADD_Rawscore=0.0415;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-13639C>T|||||||rs12168409||1||||4||||||||Ensembl||C|C||||chr22:g.27365547C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=71348;gnomADv4_1_AC_joint_XX=36239;gnomADv4_1_AC_joint_XY=35109;gnomADv4_1_AF_grpmax_joint=0.679049;gnomADv4_1_AF_joint=0.469772;gnomADv4_1_AF_joint_XX=0.466649;gnomADv4_1_AF_joint_XY=0.47304;gnomADv4_1_AN_grpmax_joint=41458;gnomADv4_1_AN_joint=151878;gnomADv4_1_AN_joint_XX=77658;gnomADv4_1_AN_joint_XY=74220;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18603;gnomADv4_1_nhomalt_joint_XX=9380;gnomADv4_1_nhomalt_joint_XY=9223;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27365732 chr22_27365732_A_T A T 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=5.306;CADD_Rawscore=0.484785;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-13454A>T|||||||rs11704448||1||||4||||||||Ensembl||A|A||||chr22:g.27365732A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=18983;gnomADv4_1_AC_joint_XX=9821;gnomADv4_1_AC_joint_XY=9162;gnomADv4_1_AF_grpmax_joint=0.175029;gnomADv4_1_AF_joint=0.124793;gnomADv4_1_AF_joint_XX=0.126305;gnomADv4_1_AF_joint_XY=0.123211;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1509;gnomADv4_1_nhomalt_joint_XX=798;gnomADv4_1_nhomalt_joint_XY=711;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27365736 chr22_27365736_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.004;CADD_Rawscore=0.365597;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-13450T>C|||||||rs11090486||1||||4||||||||Ensembl||T|T||||chr22:g.27365736T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70901;gnomADv4_1_AC_joint_XX=35991;gnomADv4_1_AC_joint_XY=34910;gnomADv4_1_AF_grpmax_joint=0.677767;gnomADv4_1_AF_joint=0.466657;gnomADv4_1_AF_joint_XX=0.463252;gnomADv4_1_AF_joint_XY=0.470219;gnomADv4_1_AN_grpmax_joint=41442;gnomADv4_1_AN_joint=151934;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18410;gnomADv4_1_nhomalt_joint_XX=9274;gnomADv4_1_nhomalt_joint_XY=9136;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27365896 chr22_27365896_TA_T TA T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=1.021;CADDIndel_Rawscore=-0.01241;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-13287del|||||||rs34952480||1||||4||||||||Ensembl||A|A|||2|chr22:g.27365899del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70898;gnomADv4_1_AC_joint_XX=35995;gnomADv4_1_AC_joint_XY=34903;gnomADv4_1_AF_grpmax_joint=0.67759;gnomADv4_1_AF_joint=0.466446;gnomADv4_1_AF_joint_XX=0.463161;gnomADv4_1_AF_joint_XY=0.469884;gnomADv4_1_AN_grpmax_joint=41410;gnomADv4_1_AN_joint=151996;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18411;gnomADv4_1_nhomalt_joint_XX=9277;gnomADv4_1_nhomalt_joint_XY=9134;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27366194 chr22_27366194_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.317;CADD_Rawscore=0.053936;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-12992T>C|||||||rs6519705||1||||4||||||||Ensembl||T|T||||chr22:g.27366194T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=102035;gnomADv4_1_AC_joint_XX=52239;gnomADv4_1_AC_joint_XY=49796;gnomADv4_1_AF_grpmax_joint=0.812401;gnomADv4_1_AF_joint=0.670868;gnomADv4_1_AF_joint_XX=0.671832;gnomADv4_1_AF_joint_XY=0.669859;gnomADv4_1_AN_grpmax_joint=41482;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=34997;gnomADv4_1_nhomalt_joint_XX=17897;gnomADv4_1_nhomalt_joint_XY=17100;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27366346 chr22_27366346_T_A T A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.127;CADD_Rawscore=0.286501;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-12840T>A|||||||rs6005400||1||||4||||||||Ensembl||T|T||||chr22:g.27366346T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70951;gnomADv4_1_AC_joint_XX=36014;gnomADv4_1_AC_joint_XY=34937;gnomADv4_1_AF_grpmax_joint=0.677199;gnomADv4_1_AF_joint=0.466568;gnomADv4_1_AF_joint_XX=0.46331;gnomADv4_1_AF_joint_XY=0.469975;gnomADv4_1_AN_grpmax_joint=41490;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18424;gnomADv4_1_nhomalt_joint_XX=9281;gnomADv4_1_nhomalt_joint_XY=9143;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27366605 chr22_27366605_C_T C T 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.126;CADD_Rawscore=-0.54877;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-12581C>T|||||||rs13054267||1||||4||||||||Ensembl||C|C||||chr22:g.27366605C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=27229;gnomADv4_1_AC_joint_XX=14190;gnomADv4_1_AC_joint_XY=13039;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.179004;gnomADv4_1_AF_joint_XX=0.182499;gnomADv4_1_AF_joint_XY=0.17535;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2566;gnomADv4_1_nhomalt_joint_XX=1369;gnomADv4_1_nhomalt_joint_XY=1197;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27366738 chr22_27366738_G_C G C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.804;CADD_Rawscore=-0.073697;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-12448G>C|||||||rs6005401||1||||4||||||||Ensembl||G|G||||chr22:g.27366738G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70978;gnomADv4_1_AC_joint_XX=36017;gnomADv4_1_AC_joint_XY=34961;gnomADv4_1_AF_grpmax_joint=0.677309;gnomADv4_1_AF_joint=0.466887;gnomADv4_1_AF_joint_XX=0.463444;gnomADv4_1_AF_joint_XY=0.470488;gnomADv4_1_AN_grpmax_joint=41470;gnomADv4_1_AN_joint=152024;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18435;gnomADv4_1_nhomalt_joint_XX=9282;gnomADv4_1_nhomalt_joint_XY=9153;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27366932 chr22_27366932_C_T C T 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=2.575;CADD_Rawscore=0.23171;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-12254C>T|||||||rs6005402||1||||4||||||||Ensembl||C|C||||chr22:g.27366932C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=22617;gnomADv4_1_AC_joint_XX=11126;gnomADv4_1_AC_joint_XY=11491;gnomADv4_1_AF_grpmax_joint=0.333462;gnomADv4_1_AF_joint=0.148669;gnomADv4_1_AF_joint_XX=0.143133;gnomADv4_1_AF_joint_XY=0.154453;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1953;gnomADv4_1_nhomalt_joint_XX=925;gnomADv4_1_nhomalt_joint_XY=1028;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27367020 chr22_27367020_A_C A C 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.23;CADD_Rawscore=0.03603;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-12166A>C|||||||rs75401300||1||||4||||||||Ensembl||A|A||||chr22:g.27367020A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=7982;gnomADv4_1_AC_joint_XX=3903;gnomADv4_1_AC_joint_XY=4079;gnomADv4_1_AF_grpmax_joint=0.157327;gnomADv4_1_AF_joint=0.0524904;gnomADv4_1_AF_joint_XX=0.0502058;gnomADv4_1_AF_joint_XY=0.0548799;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=297;gnomADv4_1_nhomalt_joint_XX=133;gnomADv4_1_nhomalt_joint_XY=164;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27367035 chr22_27367035_A_G A G 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=2.279;CADD_Rawscore=0.198769;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-12151A>G|||||||rs13055765||1||||4||||||||Ensembl||A|A||||chr22:g.27367035A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=49762;gnomADv4_1_AC_joint_XX=25284;gnomADv4_1_AC_joint_XY=24478;gnomADv4_1_AF_grpmax_joint=0.38268;gnomADv4_1_AF_joint=0.327934;gnomADv4_1_AF_joint_XX=0.325816;gnomADv4_1_AF_joint_XY=0.33015;gnomADv4_1_AN_grpmax_joint=41306;gnomADv4_1_AN_joint=151744;gnomADv4_1_AN_joint_XX=77602;gnomADv4_1_AN_joint_XY=74142;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8286;gnomADv4_1_nhomalt_joint_XX=4174;gnomADv4_1_nhomalt_joint_XY=4112;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27367152 chr22_27367152_C_CTG C CTG 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADDIndel_PHREDscore=0.697;CADDIndel_Rawscore=-0.110151;CSQ=TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-12033_492-12032insGT|||||||rs10660921||1||||4||||||||Ensembl||||||1|chr22:g.27367153_27367154insGT|||||||||||||;TYPE=INDEL;VEP_Allele=TG;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=116273;gnomADv4_1_AC_joint_XX=59306;gnomADv4_1_AC_joint_XY=56967;gnomADv4_1_AF_grpmax_joint=0.885897;gnomADv4_1_AF_joint=0.765437;gnomADv4_1_AF_joint_XX=0.763603;gnomADv4_1_AF_joint_XY=0.767356;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151904;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=44862;gnomADv4_1_nhomalt_joint_XX=22851;gnomADv4_1_nhomalt_joint_XY=22011;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27367206 chr22_27367206_T_G T G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.165;CADD_Rawscore=-0.477666;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-11980T>G|||||||rs4820753||1||||4||||||||Ensembl||T|T||||chr22:g.27367206T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=115634;gnomADv4_1_AC_joint_XX=58930;gnomADv4_1_AC_joint_XY=56704;gnomADv4_1_AF_grpmax_joint=0.867596;gnomADv4_1_AF_joint=0.761291;gnomADv4_1_AF_joint_XX=0.758742;gnomADv4_1_AF_joint_XY=0.763958;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151892;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=44232;gnomADv4_1_nhomalt_joint_XX=22475;gnomADv4_1_nhomalt_joint_XY=21757;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27368028 chr22_27368028_C_G C G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.234;CADD_Rawscore=-0.386045;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-11158C>G|||||||rs11703197||1||||4||||||||Ensembl||C|C||||chr22:g.27368028C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=27231;gnomADv4_1_AC_joint_XX=14185;gnomADv4_1_AC_joint_XY=13046;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.179026;gnomADv4_1_AF_joint_XX=0.182472;gnomADv4_1_AF_joint_XY=0.175425;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152106;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2568;gnomADv4_1_nhomalt_joint_XX=1373;gnomADv4_1_nhomalt_joint_XY=1195;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27368391 chr22_27368391_A_G A G 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.527;CADD_Rawscore=-0.179942;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-10795A>G|||||||rs13057258||1||||4||||||||Ensembl||A|A||||chr22:g.27368391A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=18962;gnomADv4_1_AC_joint_XX=9821;gnomADv4_1_AC_joint_XY=9141;gnomADv4_1_AF_grpmax_joint=0.175437;gnomADv4_1_AF_joint=0.124972;gnomADv4_1_AF_joint_XX=0.126527;gnomADv4_1_AF_joint_XY=0.123344;gnomADv4_1_AN_grpmax_joint=67916;gnomADv4_1_AN_joint=151730;gnomADv4_1_AN_joint_XX=77620;gnomADv4_1_AN_joint_XY=74110;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1531;gnomADv4_1_nhomalt_joint_XX=805;gnomADv4_1_nhomalt_joint_XY=726;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27368463 chr22_27368463_CTTTTTTTTTTTTTTTTTTTTT_C CTTTTTTTTTTTTTTTTTTTTT C 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=18;CADDIndel_PHREDscore=0.64;CADDIndel_Rawscore=-0.131235;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-10701_492-10681del|||||||rs71192997||1||||4||||||||Ensembl||TTTTTTTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTTTTTTT|||21|chr22:g.27368485_27368505del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=11475;gnomADv4_1_AC_joint_XX=6373;gnomADv4_1_AC_joint_XY=5102;gnomADv4_1_AF_grpmax_joint=0.215686;gnomADv4_1_AF_joint=0.157226;gnomADv4_1_AF_joint_XX=0.16227;gnomADv4_1_AF_joint_XY=0.15135;gnomADv4_1_AN_grpmax_joint=102;gnomADv4_1_AN_joint=72984;gnomADv4_1_AN_joint_XX=39274;gnomADv4_1_AN_joint_XY=33710;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=168;gnomADv4_1_nhomalt_joint_XX=83;gnomADv4_1_nhomalt_joint_XY=85;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27369103 chr22_27369103_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.064;CADD_Rawscore=0.172243;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-10083T>C|||||||rs5997238||1||||4||||||||Ensembl||T|T||||chr22:g.27369103T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=50111;gnomADv4_1_AC_joint_XX=25455;gnomADv4_1_AC_joint_XY=24656;gnomADv4_1_AF_grpmax_joint=0.387261;gnomADv4_1_AF_joint=0.329556;gnomADv4_1_AF_joint_XX=0.327547;gnomADv4_1_AF_joint_XY=0.331656;gnomADv4_1_AN_grpmax_joint=41494;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8402;gnomADv4_1_nhomalt_joint_XX=4230;gnomADv4_1_nhomalt_joint_XY=4172;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27369794 chr22_27369794_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.056;CADD_Rawscore=-0.767276;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-9392G>A|||||||rs13055516||1||||4||||||||Ensembl||G|G||||chr22:g.27369794G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=54162;gnomADv4_1_AC_joint_XX=27590;gnomADv4_1_AC_joint_XY=26572;gnomADv4_1_AF_grpmax_joint=0.453274;gnomADv4_1_AF_joint=0.35701;gnomADv4_1_AF_joint_XX=0.35556;gnomADv4_1_AF_joint_XY=0.358529;gnomADv4_1_AN_grpmax_joint=41326;gnomADv4_1_AN_joint=151710;gnomADv4_1_AN_joint_XX=77596;gnomADv4_1_AN_joint_XY=74114;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10020;gnomADv4_1_nhomalt_joint_XX=5057;gnomADv4_1_nhomalt_joint_XY=4963;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27370114 chr22_27370114_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.43;CADD_Rawscore=-0.23076;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-9072G>A|||||||rs4822871||1||||4||||||||Ensembl||G|G||||chr22:g.27370114G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=49860;gnomADv4_1_AC_joint_XX=25332;gnomADv4_1_AC_joint_XY=24528;gnomADv4_1_AF_grpmax_joint=0.383565;gnomADv4_1_AF_joint=0.328389;gnomADv4_1_AF_joint_XX=0.326309;gnomADv4_1_AF_joint_XY=0.330566;gnomADv4_1_AN_grpmax_joint=41388;gnomADv4_1_AN_joint=151832;gnomADv4_1_AN_joint_XX=77632;gnomADv4_1_AN_joint_XY=74200;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8327;gnomADv4_1_nhomalt_joint_XX=4193;gnomADv4_1_nhomalt_joint_XY=4134;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27370357 chr22_27370357_T_C T C 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.285;CADD_Rawscore=0.047559;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-8829T>C|||||||rs4820754||1||||4||||||||Ensembl||T|T||||chr22:g.27370357T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=54329;gnomADv4_1_AC_joint_XX=27671;gnomADv4_1_AC_joint_XY=26658;gnomADv4_1_AF_grpmax_joint=0.453604;gnomADv4_1_AF_joint=0.357418;gnomADv4_1_AF_joint_XX=0.356007;gnomADv4_1_AF_joint_XY=0.358895;gnomADv4_1_AN_grpmax_joint=41426;gnomADv4_1_AN_joint=152004;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10068;gnomADv4_1_nhomalt_joint_XX=5085;gnomADv4_1_nhomalt_joint_XY=4983;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27370552 chr22_27370552_C_A C A 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.162;CADD_Rawscore=-0.482019;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-8634C>A|||||||rs6005404||1||||4||||||||Ensembl||C|C||||chr22:g.27370552C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=22695;gnomADv4_1_AC_joint_XX=11166;gnomADv4_1_AC_joint_XY=11529;gnomADv4_1_AF_grpmax_joint=0.33223;gnomADv4_1_AF_joint=0.149282;gnomADv4_1_AF_joint_XX=0.143707;gnomADv4_1_AF_joint_XY=0.15511;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1959;gnomADv4_1_nhomalt_joint_XX=930;gnomADv4_1_nhomalt_joint_XY=1029;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27370797 chr22_27370797_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.512;CADD_Rawscore=-0.187207;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-8389G>A|||||||rs9613438||1||||4||||||||Ensembl||G|G||||chr22:g.27370797G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=29294;gnomADv4_1_AC_joint_XX=15271;gnomADv4_1_AC_joint_XY=14023;gnomADv4_1_AF_grpmax_joint=0.246242;gnomADv4_1_AF_joint=0.192584;gnomADv4_1_AF_joint_XX=0.196346;gnomADv4_1_AF_joint_XY=0.188649;gnomADv4_1_AN_grpmax_joint=67982;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3049;gnomADv4_1_nhomalt_joint_XX=1666;gnomADv4_1_nhomalt_joint_XY=1383;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27370906 chr22_27370906_T_A T A 58 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.174;CADD_Rawscore=-0.463305;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-8280T>A|||||||rs13057699||1||||4||||||||Ensembl||T|T||||chr22:g.27370906T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=27146;gnomADv4_1_AC_joint_XX=14133;gnomADv4_1_AC_joint_XY=13013;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.178362;gnomADv4_1_AF_joint_XX=0.18178;gnomADv4_1_AF_joint_XY=0.174793;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152196;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2552;gnomADv4_1_nhomalt_joint_XX=1362;gnomADv4_1_nhomalt_joint_XY=1190;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27371132 chr22_27371132_G_A G A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.813;CADD_Rawscore=0.138018;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-8054G>A|||||||rs6005405||1||||4||||||||Ensembl||G|G||||chr22:g.27371132G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=50127;gnomADv4_1_AC_joint_XX=25466;gnomADv4_1_AC_joint_XY=24661;gnomADv4_1_AF_grpmax_joint=0.387496;gnomADv4_1_AF_joint=0.329544;gnomADv4_1_AF_joint_XX=0.327503;gnomADv4_1_AF_joint_XY=0.331679;gnomADv4_1_AN_grpmax_joint=41474;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8406;gnomADv4_1_nhomalt_joint_XX=4228;gnomADv4_1_nhomalt_joint_XY=4178;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27371724 chr22_27371724_CTTTTTT_C;chr22_27371724_CTTTTTTT_C CTTTTTT C 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=40;CADDIndel_PHREDscore=1.012;CADDIndel_Rawscore=-0.014725;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-7445_492-7440del|||||||rs71192998||1||||4||||||||Ensembl||TTTTTT|TTTTTT|||16|chr22:g.27371741_27371746del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=28144;gnomADv4_1_AC_joint_XX=14799;gnomADv4_1_AC_joint_XY=13345;gnomADv4_1_AF_grpmax_joint=0.365169;gnomADv4_1_AF_joint=0.245345;gnomADv4_1_AF_joint_XX=0.241782;gnomADv4_1_AF_joint_XY=0.249421;gnomADv4_1_AN_grpmax_joint=178;gnomADv4_1_AN_joint=114712;gnomADv4_1_AN_joint_XX=61208;gnomADv4_1_AN_joint_XY=53504;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1922;gnomADv4_1_nhomalt_joint_XX=977;gnomADv4_1_nhomalt_joint_XY=945;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27371724 chr22_27371724_CTTTTTT_C;chr22_27371724_CTTTTTTT_C CTTTTTTT C 40 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=21;CADDIndel_PHREDscore=0.97;CADDIndel_Rawscore=-0.025619;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-7446_492-7440del|||||||rs71192998||1||||4||||||||Ensembl||TTTTTTT|TTTTTTT|||15|chr22:g.27371740_27371746del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=10948;gnomADv4_1_AC_joint_XX=5577;gnomADv4_1_AC_joint_XY=5371;gnomADv4_1_AF_grpmax_joint=0.187245;gnomADv4_1_AF_joint=0.0958384;gnomADv4_1_AF_joint_XX=0.0915553;gnomADv4_1_AF_joint_XY=0.100731;gnomADv4_1_AN_grpmax_joint=3434;gnomADv4_1_AN_joint=114234;gnomADv4_1_AN_joint_XX=60914;gnomADv4_1_AN_joint_XY=53320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=334;gnomADv4_1_nhomalt_joint_XX=165;gnomADv4_1_nhomalt_joint_XY=169;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27371845 chr22_27371845_A_AGTGTGT;chr22_27371845_A_AGTGTGTGTGTGT A AGTGTGT 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.441;CADDIndel_Rawscore=-0.224319;CSQ=GTGTGT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-7323_492-7318dup|||||||rs3040856||1||||4||||||||Ensembl||||||23|chr22:g.27371863_27371868dup|||||||||||||;TYPE=INDEL;VEP_Allele=GTGTGT;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=23792;gnomADv4_1_AC_joint_XX=12424;gnomADv4_1_AC_joint_XY=11368;gnomADv4_1_AF_grpmax_joint=0.248175;gnomADv4_1_AF_joint=0.168637;gnomADv4_1_AF_joint_XX=0.171328;gnomADv4_1_AF_joint_XY=0.165792;gnomADv4_1_AN_grpmax_joint=274;gnomADv4_1_AN_joint=141084;gnomADv4_1_AN_joint_XX=72516;gnomADv4_1_AN_joint_XY=68568;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2017;gnomADv4_1_nhomalt_joint_XX=1082;gnomADv4_1_nhomalt_joint_XY=935;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27371845 chr22_27371845_A_AGTGTGT;chr22_27371845_A_AGTGTGTGTGTGT A AGTGTGTGTGTGT 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=20;CADDIndel_PHREDscore=0.435;CADDIndel_Rawscore=-0.228195;CSQ=GTGTGTGTGTGT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-7329_492-7318dup|||||||rs3040856||1||||4||||||||Ensembl||||||23|chr22:g.27371857_27371868dup|||||||||||||;TYPE=INDEL;VEP_Allele=GTGTGTGTGTGT;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=444;gnomADv4_1_AC_joint_XX=220;gnomADv4_1_AC_joint_XY=224;gnomADv4_1_AF_grpmax_joint=0.0073922;gnomADv4_1_AF_joint=0.00314336;gnomADv4_1_AF_joint_XX=0.00302997;gnomADv4_1_AF_joint_XY=0.00326331;gnomADv4_1_AN_grpmax_joint=38960;gnomADv4_1_AN_joint=141250;gnomADv4_1_AN_joint_XX=72608;gnomADv4_1_AN_joint_XY=68642;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5;gnomADv4_1_nhomalt_joint_XX=2;gnomADv4_1_nhomalt_joint_XY=3;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27371867 chr22_27371867_T_TGA T TGA 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADDIndel_PHREDscore=0.479;CADDIndel_Rawscore=-0.20373;CSQ=GA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-7306_492-7305dup|||||||rs1555897504||1||||4||||||||Ensembl||||||14|chr22:g.27371880_27371881dup|||||||||||||;TYPE=INDEL;VEP_Allele=GA;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26317;gnomADv4_1_AC_joint_XX=13732;gnomADv4_1_AC_joint_XY=12585;gnomADv4_1_AF_grpmax_joint=0.241135;gnomADv4_1_AF_joint=0.1803;gnomADv4_1_AF_joint_XX=0.183167;gnomADv4_1_AF_joint_XY=0.177273;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=145962;gnomADv4_1_AN_joint_XX=74970;gnomADv4_1_AN_joint_XY=70992;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2474;gnomADv4_1_nhomalt_joint_XX=1351;gnomADv4_1_nhomalt_joint_XY=1123;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27371949 chr22_27371949_TAGA_T TAGA T 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=1.84;CADDIndel_Rawscore=0.141928;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-7234_492-7232del|||||||rs3040858||1||||4||||||||Ensembl||AGA|AGA|||2|chr22:g.27371952_27371954del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=49217;gnomADv4_1_AC_joint_XX=25063;gnomADv4_1_AC_joint_XY=24154;gnomADv4_1_AF_grpmax_joint=0.391404;gnomADv4_1_AF_joint=0.334814;gnomADv4_1_AF_joint_XX=0.331776;gnomADv4_1_AF_joint_XY=0.338026;gnomADv4_1_AN_grpmax_joint=39854;gnomADv4_1_AN_joint=146998;gnomADv4_1_AN_joint_XX=75542;gnomADv4_1_AN_joint_XY=71456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8144;gnomADv4_1_nhomalt_joint_XX=4113;gnomADv4_1_nhomalt_joint_XY=4031;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27372046 chr22_27372046_C_G C G 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.976;CADD_Rawscore=-0.024203;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-7140C>G|||||||rs2092078||1||||4||||||||Ensembl||C|C||||chr22:g.27372046C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=49896;gnomADv4_1_AC_joint_XX=25341;gnomADv4_1_AC_joint_XY=24555;gnomADv4_1_AF_grpmax_joint=0.388984;gnomADv4_1_AF_joint=0.331835;gnomADv4_1_AF_joint_XX=0.328984;gnomADv4_1_AF_joint_XY=0.334829;gnomADv4_1_AN_grpmax_joint=40868;gnomADv4_1_AN_joint=150364;gnomADv4_1_AN_joint_XX=77028;gnomADv4_1_AN_joint_XY=73336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8367;gnomADv4_1_nhomalt_joint_XX=4206;gnomADv4_1_nhomalt_joint_XY=4161;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27372826 chr22_27372826_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.31;CADD_Rawscore=0.052669;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-6360A>G|||||||rs760592||1||||4||||||||Ensembl||A|A||||chr22:g.27372826A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000413244;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000230051;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=50615;gnomADv4_1_AC_joint_XX=25723;gnomADv4_1_AC_joint_XY=24892;gnomADv4_1_AF_grpmax_joint=0.395171;gnomADv4_1_AF_joint=0.332932;gnomADv4_1_AF_joint_XX=0.331064;gnomADv4_1_AF_joint_XY=0.334885;gnomADv4_1_AN_grpmax_joint=41458;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8579;gnomADv4_1_nhomalt_joint_XX=4326;gnomADv4_1_nhomalt_joint_XY=4253;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27372934 chr22_27372934_G_A G A 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=7.975;CADD_Rawscore=0.766011;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-6252G>A|||||||rs748884||1||||4||||||||Ensembl||G|G||||chr22:g.27372934G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs748884|4935|-1||||||||||||Ensembl||G|G||||chr22:g.27372934G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=21301;gnomADv4_1_AC_joint_XX=10449;gnomADv4_1_AC_joint_XY=10852;gnomADv4_1_AF_grpmax_joint=0.335144;gnomADv4_1_AF_joint=0.140473;gnomADv4_1_AF_joint_XX=0.134697;gnomADv4_1_AF_joint_XY=0.146522;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151638;gnomADv4_1_AN_joint_XX=77574;gnomADv4_1_AN_joint_XY=74064;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1715;gnomADv4_1_nhomalt_joint_XX=800;gnomADv4_1_nhomalt_joint_XY=915;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27373068 chr22_27373068_C_T C T 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=2.247;CADD_Rawscore=0.194897;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-6118C>T|||||||rs2342929||1||||4||||||||Ensembl||C|C||||chr22:g.27373068C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs2342929|4801|-1||||||||||||Ensembl||C|C||||chr22:g.27373068C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=47605;gnomADv4_1_AC_joint_XX=24110;gnomADv4_1_AC_joint_XY=23495;gnomADv4_1_AF_grpmax_joint=0.375208;gnomADv4_1_AF_joint=0.313434;gnomADv4_1_AF_joint_XX=0.310584;gnomADv4_1_AF_joint_XY=0.316414;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=151882;gnomADv4_1_AN_joint_XX=77628;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=7503;gnomADv4_1_nhomalt_joint_XX=3739;gnomADv4_1_nhomalt_joint_XY=3764;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27373230 chr22_27373230_C_T C T 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.06;CADD_Rawscore=-0.002649;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-5956C>T|||||||rs73158434||1||||4||||||||Ensembl||C|C||||chr22:g.27373230C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs73158434|4639|-1||||||||||||Ensembl||C|C||||chr22:g.27373230C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=27912;gnomADv4_1_AC_joint_XX=14538;gnomADv4_1_AC_joint_XY=13374;gnomADv4_1_AF_grpmax_joint=0.236349;gnomADv4_1_AF_joint=0.183467;gnomADv4_1_AF_joint_XX=0.18695;gnomADv4_1_AF_joint_XY=0.179826;gnomADv4_1_AN_grpmax_joint=67980;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2797;gnomADv4_1_nhomalt_joint_XX=1534;gnomADv4_1_nhomalt_joint_XY=1263;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27373267 chr22_27373267_T_C T C 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.024;CADD_Rawscore=-0.011691;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-5919T>C|||||||rs2092079||1||||4||||||||Ensembl||T|T||||chr22:g.27373267T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs2092079|4602|-1||||||||||||Ensembl||T|T||||chr22:g.27373267T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=51880;gnomADv4_1_AC_joint_XX=26347;gnomADv4_1_AC_joint_XY=25533;gnomADv4_1_AF_grpmax_joint=0.40647;gnomADv4_1_AF_joint=0.341033;gnomADv4_1_AF_joint_XX=0.338894;gnomADv4_1_AF_joint_XY=0.343269;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=9015;gnomADv4_1_nhomalt_joint_XX=4511;gnomADv4_1_nhomalt_joint_XY=4504;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27373321 chr22_27373321_G_C G C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.06;CADD_Rawscore=-0.002765;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-5865G>C|||||||rs2092080||1||||4||||||||Ensembl||G|G||||chr22:g.27373321G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs2092080|4548|-1||||||||||||Ensembl||G|G||||chr22:g.27373321G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=51899;gnomADv4_1_AC_joint_XX=26343;gnomADv4_1_AC_joint_XY=25556;gnomADv4_1_AF_grpmax_joint=0.406393;gnomADv4_1_AF_joint=0.341028;gnomADv4_1_AF_joint_XX=0.338773;gnomADv4_1_AF_joint_XY=0.343384;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152184;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=9026;gnomADv4_1_nhomalt_joint_XX=4511;gnomADv4_1_nhomalt_joint_XY=4515;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27373355 chr22_27373355_A_G A G 65 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=65;CADD_PHREDscore=0.208;CADD_Rawscore=-0.416773;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-5831A>G|||||||rs2092081||1||||4||||||||Ensembl||A|A||||chr22:g.27373355A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs2092081|4514|-1||||||||||||Ensembl||A|A||||chr22:g.27373355A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DTCK|enhancer||||||||||rs2092081|||||||||||||||||||||chr22:g.27373355A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000413244,ENST00000729519,ENSR22_9DTCK;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000230051,ENSG00000280445,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=151003;gnomADv4_1_AC_joint_XX=77132;gnomADv4_1_AC_joint_XY=73871;gnomADv4_1_AF_grpmax_joint=0.999229;gnomADv4_1_AF_joint=0.990859;gnomADv4_1_AF_joint_XX=0.990574;gnomADv4_1_AF_joint_XY=0.991158;gnomADv4_1_AN_grpmax_joint=5190;gnomADv4_1_AN_joint=152396;gnomADv4_1_AN_joint_XX=77866;gnomADv4_1_AN_joint_XY=74530;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=74819;gnomADv4_1_nhomalt_joint_XX=38205;gnomADv4_1_nhomalt_joint_XY=36614;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27373428 chr22_27373428_G_A G A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=3.94;CADD_Rawscore=0.359886;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-5758G>A|||||||rs73158437||1||||4||||||||Ensembl||G|G||||chr22:g.27373428G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs73158437|4441|-1||||||||||||Ensembl||G|G||||chr22:g.27373428G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DTCK|enhancer||||||||||rs73158437|||||||||||||||||||||chr22:g.27373428G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000413244,ENST00000729519,ENSR22_9DTCK;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000230051,ENSG00000280445,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=27968;gnomADv4_1_AC_joint_XX=14563;gnomADv4_1_AC_joint_XY=13405;gnomADv4_1_AF_grpmax_joint=0.236372;gnomADv4_1_AF_joint=0.183654;gnomADv4_1_AF_joint_XX=0.187142;gnomADv4_1_AF_joint_XY=0.18001;gnomADv4_1_AN_grpmax_joint=67986;gnomADv4_1_AN_joint=152286;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2805;gnomADv4_1_nhomalt_joint_XX=1534;gnomADv4_1_nhomalt_joint_XY=1271;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27373451 chr22_27373451_C_G C G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.068;CADD_Rawscore=-0.715005;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-5735C>G|||||||rs2092082||1||||4||||||||Ensembl||C|C||||chr22:g.27373451C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs2092082|4418|-1||||||||||||Ensembl||C|C||||chr22:g.27373451C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DTCK|enhancer||||||||||rs2092082|||||||||||||||||||||chr22:g.27373451C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000413244,ENST00000729519,ENSR22_9DTCK;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000230051,ENSG00000280445,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=47721;gnomADv4_1_AC_joint_XX=24164;gnomADv4_1_AC_joint_XY=23557;gnomADv4_1_AF_grpmax_joint=0.375155;gnomADv4_1_AF_joint=0.313447;gnomADv4_1_AF_joint_XX=0.310591;gnomADv4_1_AF_joint_XY=0.316431;gnomADv4_1_AN_grpmax_joint=4830;gnomADv4_1_AN_joint=152246;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=7541;gnomADv4_1_nhomalt_joint_XX=3760;gnomADv4_1_nhomalt_joint_XY=3781;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27373669 chr22_27373669_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.149;CADD_Rawscore=0.288546;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-5517A>G|||||||rs12484219||1||||4||||||||Ensembl||A|A||||chr22:g.27373669A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs12484219|4200|-1||||||||||||Ensembl||A|A||||chr22:g.27373669A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=47514;gnomADv4_1_AC_joint_XX=24047;gnomADv4_1_AC_joint_XY=23467;gnomADv4_1_AF_grpmax_joint=0.374741;gnomADv4_1_AF_joint=0.312374;gnomADv4_1_AF_joint_XX=0.309342;gnomADv4_1_AF_joint_XY=0.315544;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152106;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=7473;gnomADv4_1_nhomalt_joint_XX=3726;gnomADv4_1_nhomalt_joint_XY=3747;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27373673 chr22_27373673_G_T G T 56 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.67;CADD_Rawscore=0.116281;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-5513G>T|||||||rs12484111||1||||4||||||||Ensembl||G|G||||chr22:g.27373673G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs12484111|4196|-1||||||||||||Ensembl||G|G||||chr22:g.27373673G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=23002;gnomADv4_1_AC_joint_XX=11297;gnomADv4_1_AC_joint_XY=11705;gnomADv4_1_AF_grpmax_joint=0.333139;gnomADv4_1_AF_joint=0.15115;gnomADv4_1_AF_joint_XX=0.145273;gnomADv4_1_AF_joint_XY=0.157291;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2001;gnomADv4_1_nhomalt_joint_XX=941;gnomADv4_1_nhomalt_joint_XY=1060;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27373716 chr22_27373716_C_A C A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.306;CADD_Rawscore=0.201898;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-5470C>A|||||||rs12484185||1||||4||||||||Ensembl||C|C||||chr22:g.27373716C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs12484185|4153|-1||||||||||||Ensembl||C|C||||chr22:g.27373716C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=47677;gnomADv4_1_AC_joint_XX=24141;gnomADv4_1_AC_joint_XY=23536;gnomADv4_1_AF_grpmax_joint=0.374585;gnomADv4_1_AF_joint=0.313269;gnomADv4_1_AF_joint_XX=0.310375;gnomADv4_1_AF_joint_XY=0.316293;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152192;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=7534;gnomADv4_1_nhomalt_joint_XX=3755;gnomADv4_1_nhomalt_joint_XY=3779;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27374261 chr22_27374261_G_A G A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.969;CADD_Rawscore=-0.026065;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-4925G>A|||||||rs5997240||1||||4||||||||Ensembl||G|G||||chr22:g.27374261G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs5997240|3608|-1||||||||||||Ensembl||G|G||||chr22:g.27374261G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=83828;gnomADv4_1_AC_joint_XX=43065;gnomADv4_1_AC_joint_XY=40763;gnomADv4_1_AF_grpmax_joint=0.608844;gnomADv4_1_AF_joint=0.55142;gnomADv4_1_AF_joint_XX=0.55399;gnomADv4_1_AF_joint_XY=0.548731;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=23325;gnomADv4_1_nhomalt_joint_XX=12031;gnomADv4_1_nhomalt_joint_XY=11294;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27375118 chr22_27375118_C_T C T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.415;CADD_Rawscore=-0.239734;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-4068C>T|||||||rs4501038||1||||4||||||||Ensembl||C|C||||chr22:g.27375118C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs4501038|2751|-1||||||||||||Ensembl||C|C||||chr22:g.27375118C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=118415;gnomADv4_1_AC_joint_XX=60397;gnomADv4_1_AC_joint_XY=58018;gnomADv4_1_AF_grpmax_joint=0.886669;gnomADv4_1_AF_joint=0.778421;gnomADv4_1_AF_joint_XX=0.77667;gnomADv4_1_AF_joint_XY=0.780252;gnomADv4_1_AN_grpmax_joint=41498;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=46619;gnomADv4_1_nhomalt_joint_XX=23744;gnomADv4_1_nhomalt_joint_XY=22875;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27375195 chr22_27375195_G_A G A 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=3.772;CADD_Rawscore=0.344997;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-3991G>A|||||||rs11704447||1||||4||||||||Ensembl||G|G||||chr22:g.27375195G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs11704447|2674|-1||||||||||||Ensembl||G|G||||chr22:g.27375195G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=47443;gnomADv4_1_AC_joint_XX=24013;gnomADv4_1_AC_joint_XY=23430;gnomADv4_1_AF_grpmax_joint=0.374325;gnomADv4_1_AF_joint=0.312162;gnomADv4_1_AF_joint_XX=0.309103;gnomADv4_1_AF_joint_XY=0.31536;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=151982;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=7451;gnomADv4_1_nhomalt_joint_XX=3711;gnomADv4_1_nhomalt_joint_XY=3740;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27375949 chr22_27375949_G_A G A 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.329;CADD_Rawscore=0.056281;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-3237G>A|||||||rs150597257||1||||4||||||||Ensembl||G|G||||chr22:g.27375949G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs150597257|1920|-1||||||||||||Ensembl||G|G||||chr22:g.27375949G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=27924;gnomADv4_1_AC_joint_XX=14557;gnomADv4_1_AC_joint_XY=13367;gnomADv4_1_AF_grpmax_joint=0.236986;gnomADv4_1_AF_joint=0.183662;gnomADv4_1_AF_joint_XX=0.187325;gnomADv4_1_AF_joint_XY=0.179833;gnomADv4_1_AN_grpmax_joint=67928;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2772;gnomADv4_1_nhomalt_joint_XX=1529;gnomADv4_1_nhomalt_joint_XY=1243;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27376254 chr22_27376254_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.18;CADD_Rawscore=0.291453;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-2932C>T|||||||rs11705423||1||||4||||||||Ensembl||C|C||||chr22:g.27376254C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs11705423|1615|-1||||||||||||Ensembl||C|C||||chr22:g.27376254C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=24969;gnomADv4_1_AC_joint_XX=12945;gnomADv4_1_AC_joint_XY=12024;gnomADv4_1_AF_grpmax_joint=0.238095;gnomADv4_1_AF_joint=0.164246;gnomADv4_1_AF_joint_XX=0.166585;gnomADv4_1_AF_joint_XY=0.1618;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2216;gnomADv4_1_nhomalt_joint_XX=1168;gnomADv4_1_nhomalt_joint_XY=1048;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27376456 chr22_27376456_G_A G A 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.61;CADD_Rawscore=0.106753;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-2730G>A|||||||rs11705314||1||||4||||||||Ensembl||G|G||||chr22:g.27376456G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs11705314|1413|-1||||||||||||Ensembl||G|G||||chr22:g.27376456G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=24453;gnomADv4_1_AC_joint_XX=12716;gnomADv4_1_AC_joint_XY=11737;gnomADv4_1_AF_grpmax_joint=0.239726;gnomADv4_1_AF_joint=0.160864;gnomADv4_1_AF_joint_XX=0.1636;gnomADv4_1_AF_joint_XY=0.158002;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152010;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2139;gnomADv4_1_nhomalt_joint_XX=1137;gnomADv4_1_nhomalt_joint_XY=1002;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27377187 chr22_27377187_G_A G A 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.087;CADD_Rawscore=0.175195;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-1999G>A|||||||rs12483939||1||||4||||||||Ensembl||G|G||||chr22:g.27377187G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs12483939|682|-1||||||||||||Ensembl||G|G||||chr22:g.27377187G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=22971;gnomADv4_1_AC_joint_XX=11333;gnomADv4_1_AC_joint_XY=11638;gnomADv4_1_AF_grpmax_joint=0.332299;gnomADv4_1_AF_joint=0.151165;gnomADv4_1_AF_joint_XX=0.145961;gnomADv4_1_AF_joint_XY=0.156602;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=151960;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1987;gnomADv4_1_nhomalt_joint_XX=946;gnomADv4_1_nhomalt_joint_XY=1041;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27377362 chr22_27377362_A_G A G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.836;CADD_Rawscore=-0.063911;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-1824A>G|||||||rs8138626||1||||4||||||||Ensembl||A|A||||chr22:g.27377362A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs8138626|507|-1||||||||||||Ensembl||A|A||||chr22:g.27377362A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=24058;gnomADv4_1_AC_joint_XX=12634;gnomADv4_1_AC_joint_XY=11424;gnomADv4_1_AF_grpmax_joint=0.20979;gnomADv4_1_AF_joint=0.158759;gnomADv4_1_AF_joint_XX=0.163036;gnomADv4_1_AF_joint_XY=0.154282;gnomADv4_1_AN_grpmax_joint=286;gnomADv4_1_AN_joint=151538;gnomADv4_1_AN_joint_XX=77492;gnomADv4_1_AN_joint_XY=74046;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2065;gnomADv4_1_nhomalt_joint_XX=1139;gnomADv4_1_nhomalt_joint_XY=926;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27377372 chr22_27377372_C_A C A 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.201;CADD_Rawscore=-0.426154;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-1814C>A|||||||rs5762099||1||||4||||||||Ensembl||C|C||||chr22:g.27377372C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs5762099|497|-1||||||||||||Ensembl||C|C||||chr22:g.27377372C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=78064;gnomADv4_1_AC_joint_XX=40042;gnomADv4_1_AC_joint_XY=38022;gnomADv4_1_AF_grpmax_joint=0.548481;gnomADv4_1_AF_joint=0.519644;gnomADv4_1_AF_joint_XX=0.520499;gnomADv4_1_AF_joint_XY=0.518746;gnomADv4_1_AN_grpmax_joint=5136;gnomADv4_1_AN_joint=150226;gnomADv4_1_AN_joint_XX=76930;gnomADv4_1_AN_joint_XY=73296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=20353;gnomADv4_1_nhomalt_joint_XX=10422;gnomADv4_1_nhomalt_joint_XY=9931;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27377724 chr22_27377724_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=11.58;CADD_Rawscore=1.12309;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-1462T>C|||||||rs8137706||1||||4||||||||Ensembl||T|T||||chr22:g.27377724T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs8137706|145|-1||||||||||||Ensembl||T|T||||chr22:g.27377724T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=131023;gnomADv4_1_AC_joint_XX=67084;gnomADv4_1_AC_joint_XY=63939;gnomADv4_1_AF_grpmax_joint=0.922338;gnomADv4_1_AF_joint=0.862425;gnomADv4_1_AF_joint_XX=0.863528;gnomADv4_1_AF_joint_XY=0.861271;gnomADv4_1_AN_grpmax_joint=4790;gnomADv4_1_AN_joint=151924;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=56929;gnomADv4_1_nhomalt_joint_XX=29160;gnomADv4_1_nhomalt_joint_XY=27769;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27377838 chr22_27377838_A_G A G 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.514;CADD_Rawscore=-0.186253;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-1348A>G|||||||rs10854799||1||||4||||||||Ensembl||A|A||||chr22:g.27377838A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs10854799|31|-1||||||||||||Ensembl||A|A||||chr22:g.27377838A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=26265;gnomADv4_1_AC_joint_XX=13205;gnomADv4_1_AC_joint_XY=13060;gnomADv4_1_AF_grpmax_joint=0.421283;gnomADv4_1_AF_joint=0.172953;gnomADv4_1_AF_joint_XX=0.170062;gnomADv4_1_AF_joint_XY=0.175978;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=151862;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2573;gnomADv4_1_nhomalt_joint_XX=1249;gnomADv4_1_nhomalt_joint_XY=1324;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27377875 chr22_27377875_T_TA T TA 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=1.548;CADDIndel_Rawscore=0.096383;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-1311_492-1310insA|||||||rs199909108||1||||4||||||||Ensembl|||||||chr22:g.27377875_27377876insA|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA|3/3||ENST00000729519.1:n.1689_1690insT||1689-1690|||||rs199909108||-1||||||||||||Ensembl|||||||chr22:g.27377875_27377876insA|||||||||||||;TYPE=INDEL;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=22922;gnomADv4_1_AC_joint_XX=12027;gnomADv4_1_AC_joint_XY=10895;gnomADv4_1_AF_grpmax_joint=0.21539;gnomADv4_1_AF_joint=0.157412;gnomADv4_1_AF_joint_XX=0.160991;gnomADv4_1_AF_joint_XY=0.153641;gnomADv4_1_AN_grpmax_joint=13840;gnomADv4_1_AN_joint=145618;gnomADv4_1_AN_joint_XX=74706;gnomADv4_1_AN_joint_XY=70912;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1899;gnomADv4_1_nhomalt_joint_XX=1014;gnomADv4_1_nhomalt_joint_XY=885;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27377876 chr22_27377876_T_A T A 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.015;CADD_Rawscore=-0.013997;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-1310T>A|||||||rs12159917||1||||4||||||||Ensembl||T|T||||chr22:g.27377876T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA|3/3||ENST00000729519.1:n.1689A>T||1689|||||rs12159917||-1||||||||||||Ensembl||T|T||||chr22:g.27377876T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=19328;gnomADv4_1_AC_joint_XX=10205;gnomADv4_1_AC_joint_XY=9123;gnomADv4_1_AF_grpmax_joint=0.29902;gnomADv4_1_AF_joint=0.166845;gnomADv4_1_AF_joint_XX=0.17326;gnomADv4_1_AF_joint_XY=0.16021;gnomADv4_1_AN_grpmax_joint=204;gnomADv4_1_AN_joint=115844;gnomADv4_1_AN_joint_XX=58900;gnomADv4_1_AN_joint_XY=56944;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1280;gnomADv4_1_nhomalt_joint_XX=726;gnomADv4_1_nhomalt_joint_XY=554;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27378463 chr22_27378463_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=10.18;CADD_Rawscore=0.986845;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-723T>C|||||||rs2179101||1||||4||||||||Ensembl||T|T||||chr22:g.27378463T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA|3/3||ENST00000729519.1:n.1102A>G||1102|||||rs2179101||-1||||||||||||Ensembl||T|T||||chr22:g.27378463T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7FNZ|enhancer||||||||||rs2179101|||||||||||||||||||||chr22:g.27378463T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000413244,ENST00000729519,ENSR22_B7FNZ;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000230051,ENSG00000280445,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=131465;gnomADv4_1_AC_joint_XX=67012;gnomADv4_1_AC_joint_XY=64453;gnomADv4_1_AF_grpmax_joint=0.998071;gnomADv4_1_AF_joint=0.86381;gnomADv4_1_AF_joint_XX=0.861603;gnomADv4_1_AF_joint_XY=0.866118;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152192;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56921;gnomADv4_1_nhomalt_joint_XX=28921;gnomADv4_1_nhomalt_joint_XY=28000;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27378619 chr22_27378619_G_C G C 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.293;CADD_Rawscore=-0.32834;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-567G>C|||||||rs6005406||1||||4||||||||Ensembl||G|G||||chr22:g.27378619G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA|3/3||ENST00000729519.1:n.946C>G||946|||||rs6005406||-1||||||||||||Ensembl||G|G||||chr22:g.27378619G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=84047;gnomADv4_1_AC_joint_XX=43125;gnomADv4_1_AC_joint_XY=40922;gnomADv4_1_AF_grpmax_joint=0.664309;gnomADv4_1_AF_joint=0.552992;gnomADv4_1_AF_joint_XX=0.554991;gnomADv4_1_AF_joint_XY=0.550901;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=23571;gnomADv4_1_nhomalt_joint_XX=12134;gnomADv4_1_nhomalt_joint_XY=11437;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27378818 chr22_27378818_A_G A G 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.657;CADD_Rawscore=0.114282;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-368A>G|||||||rs5752529||1||||4||||||||Ensembl||A|A||||chr22:g.27378818A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA|3/3||ENST00000729519.1:n.747T>C||747|||||rs5752529||-1||||||||||||Ensembl||A|A||||chr22:g.27378818A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=102958;gnomADv4_1_AC_joint_XX=51998;gnomADv4_1_AC_joint_XY=50960;gnomADv4_1_AF_grpmax_joint=0.892677;gnomADv4_1_AF_joint=0.677195;gnomADv4_1_AF_joint_XX=0.669094;gnomADv4_1_AF_joint_XY=0.685665;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152036;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=35139;gnomADv4_1_nhomalt_joint_XX=17539;gnomADv4_1_nhomalt_joint_XY=17600;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27378823 chr22_27378823_A_C A C 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.897;CADD_Rawscore=0.264529;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||3/3|ENST00000413244.1:n.492-363A>C|||||||rs11090487||1||||4||||||||Ensembl||A|A||||chr22:g.27378823A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA|3/3||ENST00000729519.1:n.742T>G||742|||||rs11090487||-1||||||||||||Ensembl||A|A||||chr22:g.27378823A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=30043;gnomADv4_1_AC_joint_XX=15537;gnomADv4_1_AC_joint_XY=14506;gnomADv4_1_AF_grpmax_joint=0.265238;gnomADv4_1_AF_joint=0.197495;gnomADv4_1_AF_joint_XX=0.199802;gnomADv4_1_AF_joint_XY=0.195083;gnomADv4_1_AN_grpmax_joint=67954;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3401;gnomADv4_1_nhomalt_joint_XX=1760;gnomADv4_1_nhomalt_joint_XY=1641;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27379550 chr22_27379550_G_A G A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.227;CADD_Rawscore=-0.393923;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs2205720|285|1||||4||||||||Ensembl||G|G||||chr22:g.27379550G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-335C>T|||||||rs2205720||-1||||||||||||Ensembl||G|G||||chr22:g.27379550G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=128796;gnomADv4_1_AC_joint_XX=65657;gnomADv4_1_AC_joint_XY=63139;gnomADv4_1_AF_grpmax_joint=0.998066;gnomADv4_1_AF_joint=0.846963;gnomADv4_1_AF_joint_XX=0.84468;gnomADv4_1_AF_joint_XY=0.84935;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=54743;gnomADv4_1_nhomalt_joint_XX=27807;gnomADv4_1_nhomalt_joint_XY=26936;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27379799 chr22_27379799_T_C T C 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.445;CADD_Rawscore=-0.222087;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs4611737|534|1||||4||||||||Ensembl||T|T||||chr22:g.27379799T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-584A>G|||||||rs4611737||-1||||||||||||Ensembl||T|T||||chr22:g.27379799T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=128866;gnomADv4_1_AC_joint_XX=65689;gnomADv4_1_AC_joint_XY=63177;gnomADv4_1_AF_grpmax_joint=0.998064;gnomADv4_1_AF_joint=0.8471;gnomADv4_1_AF_joint_XX=0.844875;gnomADv4_1_AF_joint_XY=0.849427;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=54780;gnomADv4_1_nhomalt_joint_XX=27826;gnomADv4_1_nhomalt_joint_XY=26954;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27379836 chr22_27379836_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.306;CADD_Rawscore=-0.316624;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs7288551|571|1||||4||||||||Ensembl||T|T||||chr22:g.27379836T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-621A>G|||||||rs7288551||-1||||||||||||Ensembl||T|T||||chr22:g.27379836T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=75925;gnomADv4_1_AC_joint_XX=39458;gnomADv4_1_AC_joint_XY=36467;gnomADv4_1_AF_grpmax_joint=0.56227;gnomADv4_1_AF_joint=0.499336;gnomADv4_1_AF_joint_XX=0.507694;gnomADv4_1_AF_joint_XY=0.490596;gnomADv4_1_AN_grpmax_joint=67978;gnomADv4_1_AN_joint=152052;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=19451;gnomADv4_1_nhomalt_joint_XX=10218;gnomADv4_1_nhomalt_joint_XY=9233;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27380068 chr22_27380068_TAAATC_T TAAATC T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=5.296;CADDIndel_Rawscore=0.483869;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs10536054|804|1||||4||||||||Ensembl||AAATC|AAATC||||chr22:g.27380072_27380076del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-858_350-854del|||||||rs10536054||-1||||||||||||Ensembl||AAATC|AAATC||||chr22:g.27380072_27380076del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=22525;gnomADv4_1_AC_joint_XX=11656;gnomADv4_1_AC_joint_XY=10869;gnomADv4_1_AF_grpmax_joint=0.158229;gnomADv4_1_AF_joint=0.148195;gnomADv4_1_AF_joint_XX=0.14999;gnomADv4_1_AF_joint_XY=0.146317;gnomADv4_1_AN_grpmax_joint=41440;gnomADv4_1_AN_joint=151996;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1704;gnomADv4_1_nhomalt_joint_XX=898;gnomADv4_1_nhomalt_joint_XY=806;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27380382 chr22_27380382_G_A G A 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.478;CADD_Rawscore=-0.204305;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs11705660|1117|1||||4||||||||Ensembl||G|G||||chr22:g.27380382G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-1167C>T|||||||rs11705660||-1||||||||||||Ensembl||G|G||||chr22:g.27380382G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=29155;gnomADv4_1_AC_joint_XX=15013;gnomADv4_1_AC_joint_XY=14142;gnomADv4_1_AF_grpmax_joint=0.256076;gnomADv4_1_AF_joint=0.191655;gnomADv4_1_AF_joint_XX=0.193113;gnomADv4_1_AF_joint_XY=0.190132;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3204;gnomADv4_1_nhomalt_joint_XX=1654;gnomADv4_1_nhomalt_joint_XY=1550;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27380463 chr22_27380463_T_A T A 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.021;CADD_Rawscore=-1.04569;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs11703701|1198|1||||4||||||||Ensembl||T|T||||chr22:g.27380463T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-1248A>T|||||||rs11703701||-1||||||||||||Ensembl||T|T||||chr22:g.27380463T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=36552;gnomADv4_1_AC_joint_XX=18679;gnomADv4_1_AC_joint_XY=17873;gnomADv4_1_AF_grpmax_joint=0.282302;gnomADv4_1_AF_joint=0.240382;gnomADv4_1_AF_joint_XX=0.240281;gnomADv4_1_AF_joint_XY=0.240487;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4447;gnomADv4_1_nhomalt_joint_XX=2277;gnomADv4_1_nhomalt_joint_XY=2170;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27380842 chr22_27380842_A_G A G 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=16.54;CADD_Rawscore=1.95437;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs5762100|1577|1||||4||||||||Ensembl||A|A||||chr22:g.27380842A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-1627T>C|||||||rs5762100||-1||||||||||||Ensembl||A|A||||chr22:g.27380842A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=79983;gnomADv4_1_AC_joint_XX=40723;gnomADv4_1_AC_joint_XY=39260;gnomADv4_1_AF_grpmax_joint=0.906177;gnomADv4_1_AF_joint=0.526863;gnomADv4_1_AF_joint_XX=0.524402;gnomADv4_1_AF_joint_XY=0.529439;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=151810;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74154;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21683;gnomADv4_1_nhomalt_joint_XX=10937;gnomADv4_1_nhomalt_joint_XY=10746;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27381421 chr22_27381421_G_A G A 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.524;CADD_Rawscore=-0.181348;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs8139418|2156|1||||4||||||||Ensembl||G|G||||chr22:g.27381421G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-2206C>T|||||||rs8139418||-1||||||||||||Ensembl||G|G||||chr22:g.27381421G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=34473;gnomADv4_1_AC_joint_XX=18207;gnomADv4_1_AC_joint_XY=16266;gnomADv4_1_AF_grpmax_joint=0.279465;gnomADv4_1_AF_joint=0.227056;gnomADv4_1_AF_joint_XX=0.234379;gnomADv4_1_AF_joint_XY=0.219384;gnomADv4_1_AN_grpmax_joint=41354;gnomADv4_1_AN_joint=151826;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74144;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4088;gnomADv4_1_nhomalt_joint_XX=2220;gnomADv4_1_nhomalt_joint_XY=1868;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27381485 chr22_27381485_CT_C CT C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=0.18;CADDIndel_Rawscore=-0.455017;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs11366968|2221|1||||4||||||||Ensembl||T|T||||chr22:g.27381496del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-2271del|||||||rs11366968||-1||||||||||||Ensembl||T|T||||chr22:g.27381496del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=123361;gnomADv4_1_AC_joint_XX=63174;gnomADv4_1_AC_joint_XY=60187;gnomADv4_1_AF_grpmax_joint=0.997439;gnomADv4_1_AF_joint=0.824418;gnomADv4_1_AF_joint_XX=0.822707;gnomADv4_1_AF_joint_XY=0.826222;gnomADv4_1_AN_grpmax_joint=5076;gnomADv4_1_AN_joint=149634;gnomADv4_1_AN_joint_XX=76788;gnomADv4_1_AN_joint_XY=72846;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=51088;gnomADv4_1_nhomalt_joint_XX=26095;gnomADv4_1_nhomalt_joint_XY=24993;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27381983 chr22_27381983_A_T A T 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.078;CADD_Rawscore=-0.677989;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs9613441|2718|1||||4||||||||Ensembl||A|A||||chr22:g.27381983A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-2768T>A|||||||rs9613441||-1||||||||||||Ensembl||A|A||||chr22:g.27381983A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=30938;gnomADv4_1_AC_joint_XX=15848;gnomADv4_1_AC_joint_XY=15090;gnomADv4_1_AF_grpmax_joint=0.286755;gnomADv4_1_AF_joint=0.203355;gnomADv4_1_AF_joint_XX=0.20377;gnomADv4_1_AF_joint_XY=0.202921;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3939;gnomADv4_1_nhomalt_joint_XX=2049;gnomADv4_1_nhomalt_joint_XY=1890;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27382138 chr22_27382138_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.247;CADD_Rawscore=0.297636;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs1883160|2873|1||||4||||||||Ensembl||A|A||||chr22:g.27382138A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-2923T>C|||||||rs1883160||-1||||||||||||Ensembl||A|A||||chr22:g.27382138A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RPW7|enhancer||||||||||rs1883160|||||||||||||||||||||chr22:g.27382138A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000413244,ENST00000729519,ENSR22_8RPW7;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000230051,ENSG00000280445,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=125820;gnomADv4_1_AC_joint_XX=64154;gnomADv4_1_AC_joint_XY=61666;gnomADv4_1_AF_grpmax_joint=0.998064;gnomADv4_1_AF_joint=0.827088;gnomADv4_1_AF_joint_XX=0.825089;gnomADv4_1_AF_joint_XY=0.829178;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152124;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=52352;gnomADv4_1_nhomalt_joint_XX=26614;gnomADv4_1_nhomalt_joint_XY=25738;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27382377 chr22_27382377_G_A G A 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=6.057;CADD_Rawscore=0.558931;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs4563346|3112|1||||4||||||||Ensembl||G|G||||chr22:g.27382377G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-3162C>T|||||||rs4563346||-1||||||||||||Ensembl||G|G||||chr22:g.27382377G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=41987;gnomADv4_1_AC_joint_XX=22118;gnomADv4_1_AC_joint_XY=19869;gnomADv4_1_AF_grpmax_joint=0.316222;gnomADv4_1_AF_joint=0.276103;gnomADv4_1_AF_joint_XX=0.284593;gnomADv4_1_AF_joint_XY=0.267229;gnomADv4_1_AN_grpmax_joint=41474;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6077;gnomADv4_1_nhomalt_joint_XX=3301;gnomADv4_1_nhomalt_joint_XY=2776;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27382557 chr22_27382557_T_C T C 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.025;CADD_Rawscore=-0.992377;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs1006434|3292|1||||4||||||||Ensembl||T|T||||chr22:g.27382557T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-3342A>G|||||||rs1006434||-1||||||||||||Ensembl||T|T||||chr22:g.27382557T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=127826;gnomADv4_1_AC_joint_XX=65195;gnomADv4_1_AC_joint_XY=62631;gnomADv4_1_AF_grpmax_joint=0.998257;gnomADv4_1_AF_joint=0.840021;gnomADv4_1_AF_joint_XX=0.83809;gnomADv4_1_AF_joint_XY=0.842041;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=54037;gnomADv4_1_nhomalt_joint_XX=27492;gnomADv4_1_nhomalt_joint_XY=26545;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27382688 chr22_27382688_C_G C G 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.374;CADD_Rawscore=-0.266054;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs1569430|3423|1||||4||||||||Ensembl||C|C||||chr22:g.27382688C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-3473G>C|||||||rs1569430||-1||||||||||||Ensembl||C|C||||chr22:g.27382688C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=78244;gnomADv4_1_AC_joint_XX=39863;gnomADv4_1_AC_joint_XY=38381;gnomADv4_1_AF_grpmax_joint=0.905389;gnomADv4_1_AF_joint=0.516026;gnomADv4_1_AF_joint_XX=0.513831;gnomADv4_1_AF_joint_XY=0.518326;gnomADv4_1_AN_grpmax_joint=5084;gnomADv4_1_AN_joint=151628;gnomADv4_1_AN_joint_XX=77580;gnomADv4_1_AN_joint_XY=74048;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=20754;gnomADv4_1_nhomalt_joint_XX=10505;gnomADv4_1_nhomalt_joint_XY=10249;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27382703 chr22_27382703_CCA_C CCA C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.654;CADDIndel_Rawscore=-0.125891;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs146330860|3439|1||||4||||||||Ensembl||CA|CA||||chr22:g.27382705_27382706del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-3490_350-3489del|||||||rs146330860||-1||||||||||||Ensembl||CA|CA||||chr22:g.27382705_27382706del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=17814;gnomADv4_1_AC_joint_XX=9138;gnomADv4_1_AC_joint_XY=8676;gnomADv4_1_AF_grpmax_joint=0.150427;gnomADv4_1_AF_joint=0.11773;gnomADv4_1_AF_joint_XX=0.117968;gnomADv4_1_AF_joint_XY=0.117481;gnomADv4_1_AN_grpmax_joint=67614;gnomADv4_1_AN_joint=151312;gnomADv4_1_AN_joint_XX=77462;gnomADv4_1_AN_joint_XY=73850;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1133;gnomADv4_1_nhomalt_joint_XX=584;gnomADv4_1_nhomalt_joint_XY=549;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27382770 chr22_27382770_T_C T C 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.916;CADD_Rawscore=0.152599;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs1569431|3505|1||||4||||||||Ensembl||T|T||||chr22:g.27382770T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-3555A>G|||||||rs1569431||-1||||||||||||Ensembl||T|T||||chr22:g.27382770T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=78469;gnomADv4_1_AC_joint_XX=39955;gnomADv4_1_AC_joint_XY=38514;gnomADv4_1_AF_grpmax_joint=0.905752;gnomADv4_1_AF_joint=0.516583;gnomADv4_1_AF_joint_XX=0.514261;gnomADv4_1_AF_joint_XY=0.519015;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=151900;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74206;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=20830;gnomADv4_1_nhomalt_joint_XX=10532;gnomADv4_1_nhomalt_joint_XY=10298;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27383145 chr22_27383145_C_G C G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.885;CADD_Rawscore=-0.04941;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs9620687|3880|1||||4||||||||Ensembl||C|C||||chr22:g.27383145C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-3930G>C|||||||rs9620687||-1||||||||||||Ensembl||C|C||||chr22:g.27383145C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=42346;gnomADv4_1_AC_joint_XX=22306;gnomADv4_1_AC_joint_XY=20040;gnomADv4_1_AF_grpmax_joint=0.32365;gnomADv4_1_AF_joint=0.278438;gnomADv4_1_AF_joint_XX=0.28696;gnomADv4_1_AF_joint_XY=0.269529;gnomADv4_1_AN_grpmax_joint=41480;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6179;gnomADv4_1_nhomalt_joint_XX=3364;gnomADv4_1_nhomalt_joint_XY=2815;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27383161 chr22_27383161_G_A G A 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.12;CADD_Rawscore=-0.563285;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs9620688|3896|1||||4||||||||Ensembl||G|G||||chr22:g.27383161G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-3946C>T|||||||rs9620688||-1||||||||||||Ensembl||G|G||||chr22:g.27383161G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=40750;gnomADv4_1_AC_joint_XX=21496;gnomADv4_1_AC_joint_XY=19254;gnomADv4_1_AF_grpmax_joint=0.299562;gnomADv4_1_AF_joint=0.267979;gnomADv4_1_AF_joint_XX=0.276483;gnomADv4_1_AF_joint_XY=0.259083;gnomADv4_1_AN_grpmax_joint=67986;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5694;gnomADv4_1_nhomalt_joint_XX=3110;gnomADv4_1_nhomalt_joint_XY=2584;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27383311 chr22_27383311_T_G T G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=9.229;CADD_Rawscore=0.897013;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs4822872|4046|1||||4||||||||Ensembl||T|T||||chr22:g.27383311T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-4096A>C|||||||rs4822872||-1||||||||||||Ensembl||T|T||||chr22:g.27383311T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=32053;gnomADv4_1_AC_joint_XX=16444;gnomADv4_1_AC_joint_XY=15609;gnomADv4_1_AF_grpmax_joint=0.286108;gnomADv4_1_AF_joint=0.211083;gnomADv4_1_AF_joint_XX=0.21182;gnomADv4_1_AF_joint_XY=0.210313;gnomADv4_1_AN_grpmax_joint=67782;gnomADv4_1_AN_joint=151850;gnomADv4_1_AN_joint_XX=77632;gnomADv4_1_AN_joint_XY=74218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3985;gnomADv4_1_nhomalt_joint_XX=2076;gnomADv4_1_nhomalt_joint_XY=1909;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27383431 chr22_27383431_T_C T C 59 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=6.599;CADD_Rawscore=0.615107;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs4822873|4166|1||||4||||||||Ensembl||T|T||||chr22:g.27383431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-4216A>G|||||||rs4822873||-1||||||||||||Ensembl||T|T||||chr22:g.27383431T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=75304;gnomADv4_1_AC_joint_XX=38463;gnomADv4_1_AC_joint_XY=36841;gnomADv4_1_AF_grpmax_joint=0.8052;gnomADv4_1_AF_joint=0.4989;gnomADv4_1_AF_joint_XX=0.498071;gnomADv4_1_AF_joint_XY=0.499769;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=150940;gnomADv4_1_AN_joint_XX=77224;gnomADv4_1_AN_joint_XY=73716;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19040;gnomADv4_1_nhomalt_joint_XX=9701;gnomADv4_1_nhomalt_joint_XY=9339;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27383448 chr22_27383448_T_C T C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=5.089;CADD_Rawscore=0.464211;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs11090489|4183|1||||4||||||||Ensembl||T|T||||chr22:g.27383448T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-4233A>G|||||||rs11090489||-1||||||||||||Ensembl||T|T||||chr22:g.27383448T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=42498;gnomADv4_1_AC_joint_XX=22412;gnomADv4_1_AC_joint_XY=20086;gnomADv4_1_AF_grpmax_joint=0.329958;gnomADv4_1_AF_joint=0.280474;gnomADv4_1_AF_joint_XX=0.289142;gnomADv4_1_AF_joint_XY=0.271396;gnomADv4_1_AN_grpmax_joint=41278;gnomADv4_1_AN_joint=151522;gnomADv4_1_AN_joint_XX=77512;gnomADv4_1_AN_joint_XY=74010;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6226;gnomADv4_1_nhomalt_joint_XX=3391;gnomADv4_1_nhomalt_joint_XY=2835;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27383477 chr22_27383477_GA_G GA G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.337;CADDIndel_Rawscore=-0.292512;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs66495877|4213|1||||4||||||||Ensembl||A|A||||chr22:g.27383485del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-4263del|||||||rs66495877||-1||||||||||||Ensembl||A|A||||chr22:g.27383485del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=42525;gnomADv4_1_AC_joint_XX=22429;gnomADv4_1_AC_joint_XY=20096;gnomADv4_1_AF_grpmax_joint=0.335815;gnomADv4_1_AF_joint=0.292373;gnomADv4_1_AF_joint_XX=0.300278;gnomADv4_1_AF_joint_XY=0.284026;gnomADv4_1_AN_grpmax_joint=40570;gnomADv4_1_AN_joint=145448;gnomADv4_1_AN_joint_XX=74694;gnomADv4_1_AN_joint_XY=70754;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6263;gnomADv4_1_nhomalt_joint_XX=3416;gnomADv4_1_nhomalt_joint_XY=2847;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27383588 chr22_27383588_T_G T G 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=3.381;CADD_Rawscore=0.309936;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs149516266|4323|1||||4||||||||Ensembl||T|T||||chr22:g.27383588T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-4373A>C|||||||rs149516266||-1||||||||||||Ensembl||T|T||||chr22:g.27383588T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=2883;gnomADv4_1_AC_joint_XX=1586;gnomADv4_1_AC_joint_XY=1297;gnomADv4_1_AF_grpmax_joint=0.037415;gnomADv4_1_AF_joint=0.0189322;gnomADv4_1_AF_joint_XX=0.0203814;gnomADv4_1_AF_joint_XY=0.0174178;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152280;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74464;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=41;gnomADv4_1_nhomalt_joint_XX=27;gnomADv4_1_nhomalt_joint_XY=14;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27383645 chr22_27383645_G_C;chr22_27383645_G_A G C 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.681;CADD_Rawscore=0.242812;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs5762101|4380|1||||4||||||||Ensembl||G|G||||chr22:g.27383645G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-4430C>G|||||||rs5762101||-1||||||||||||Ensembl||G|G||||chr22:g.27383645G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=42610;gnomADv4_1_AC_joint_XX=22464;gnomADv4_1_AC_joint_XY=20146;gnomADv4_1_AF_grpmax_joint=0.329729;gnomADv4_1_AF_joint=0.280414;gnomADv4_1_AF_joint_XX=0.289127;gnomADv4_1_AF_joint_XY=0.271297;gnomADv4_1_AN_grpmax_joint=41428;gnomADv4_1_AN_joint=151954;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6286;gnomADv4_1_nhomalt_joint_XX=3422;gnomADv4_1_nhomalt_joint_XY=2864;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27383645 chr22_27383645_G_C;chr22_27383645_G_A G A 57 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=4.855;CADD_Rawscore=0.442348;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs5762101|4380|1||||4||||||||Ensembl||G|G||||chr22:g.27383645G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-4430C>T|||||||rs5762101||-1||||||||||||Ensembl||G|G||||chr22:g.27383645G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=32776;gnomADv4_1_AC_joint_XX=16037;gnomADv4_1_AC_joint_XY=16739;gnomADv4_1_AF_grpmax_joint=0.70459;gnomADv4_1_AF_joint=0.215734;gnomADv4_1_AF_joint_XX=0.20645;gnomADv4_1_AF_joint_XY=0.225447;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=151928;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4432;gnomADv4_1_nhomalt_joint_XX=2019;gnomADv4_1_nhomalt_joint_XY=2413;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27383690 chr22_27383690_A_C A C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.59;CADD_Rawscore=-0.151787;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs9625216|4425|1||||4||||||||Ensembl||A|A||||chr22:g.27383690A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-4475T>G|||||||rs9625216||-1||||||||||||Ensembl||A|A||||chr22:g.27383690A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=42536;gnomADv4_1_AC_joint_XX=22450;gnomADv4_1_AC_joint_XY=20086;gnomADv4_1_AF_grpmax_joint=0.329191;gnomADv4_1_AF_joint=0.279945;gnomADv4_1_AF_joint_XX=0.288924;gnomADv4_1_AF_joint_XY=0.270548;gnomADv4_1_AN_grpmax_joint=41444;gnomADv4_1_AN_joint=151944;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6251;gnomADv4_1_nhomalt_joint_XX=3414;gnomADv4_1_nhomalt_joint_XY=2837;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27383765 chr22_27383765_G_A G A 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.991;CADD_Rawscore=-0.02009;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs9625217|4500|1||||4||||||||Ensembl||G|G||||chr22:g.27383765G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-4550C>T|||||||rs9625217||-1||||||||||||Ensembl||G|G||||chr22:g.27383765G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=42517;gnomADv4_1_AC_joint_XX=22438;gnomADv4_1_AC_joint_XY=20079;gnomADv4_1_AF_grpmax_joint=0.329201;gnomADv4_1_AF_joint=0.280115;gnomADv4_1_AF_joint_XX=0.289008;gnomADv4_1_AF_joint_XY=0.270804;gnomADv4_1_AN_grpmax_joint=41382;gnomADv4_1_AN_joint=151784;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=74146;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6251;gnomADv4_1_nhomalt_joint_XX=3408;gnomADv4_1_nhomalt_joint_XY=2843;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27383857 chr22_27383857_G_A G A 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=2.271;CADD_Rawscore=0.197767;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs9625218|4592|1||||4||||||||Ensembl||G|G||||chr22:g.27383857G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-4642C>T|||||||rs9625218||-1||||||||||||Ensembl||G|G||||chr22:g.27383857G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=42594;gnomADv4_1_AC_joint_XX=22464;gnomADv4_1_AC_joint_XY=20130;gnomADv4_1_AF_grpmax_joint=0.329225;gnomADv4_1_AF_joint=0.280043;gnomADv4_1_AF_joint_XX=0.288948;gnomADv4_1_AF_joint_XY=0.270732;gnomADv4_1_AN_grpmax_joint=41458;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6262;gnomADv4_1_nhomalt_joint_XX=3413;gnomADv4_1_nhomalt_joint_XY=2849;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27383933 chr22_27383933_T_G T G 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.27;CADD_Rawscore=-0.349055;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs7291156|4668|1||||4||||||||Ensembl||T|T||||chr22:g.27383933T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-4718A>C|||||||rs7291156||-1||||||||||||Ensembl||T|T||||chr22:g.27383933T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=42599;gnomADv4_1_AC_joint_XX=22462;gnomADv4_1_AC_joint_XY=20137;gnomADv4_1_AF_grpmax_joint=0.329785;gnomADv4_1_AF_joint=0.280352;gnomADv4_1_AF_joint_XX=0.289094;gnomADv4_1_AF_joint_XY=0.271205;gnomADv4_1_AN_grpmax_joint=41430;gnomADv4_1_AN_joint=151948;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6263;gnomADv4_1_nhomalt_joint_XX=3409;gnomADv4_1_nhomalt_joint_XY=2854;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27383944 chr22_27383944_A_G A G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.722;CADD_Rawscore=0.247041;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000230051|Transcript|ENST00000413244|lncRNA||||||||||rs7287241|4679|1||||4||||||||Ensembl||A|A||||chr22:g.27383944A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-4729T>C|||||||rs7287241||-1||||||||||||Ensembl||A|A||||chr22:g.27383944A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000413244,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000230051,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=42832;gnomADv4_1_AC_joint_XX=22596;gnomADv4_1_AC_joint_XY=20236;gnomADv4_1_AF_grpmax_joint=0.334732;gnomADv4_1_AF_joint=0.281723;gnomADv4_1_AF_joint_XX=0.290624;gnomADv4_1_AF_joint_XY=0.272407;gnomADv4_1_AN_grpmax_joint=41466;gnomADv4_1_AN_joint=152036;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6330;gnomADv4_1_nhomalt_joint_XX=3453;gnomADv4_1_nhomalt_joint_XY=2877;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27384443 chr22_27384443_G_T G T 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.112;CADD_Rawscore=-0.580175;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-5228C>A|||||||rs7286361||-1||||||||||||Ensembl||G|G||||chr22:g.27384443G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=42586;gnomADv4_1_AC_joint_XX=22457;gnomADv4_1_AC_joint_XY=20129;gnomADv4_1_AF_grpmax_joint=0.329508;gnomADv4_1_AF_joint=0.280293;gnomADv4_1_AF_joint_XX=0.289163;gnomADv4_1_AF_joint_XY=0.271017;gnomADv4_1_AN_grpmax_joint=41392;gnomADv4_1_AN_joint=151934;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6266;gnomADv4_1_nhomalt_joint_XX=3415;gnomADv4_1_nhomalt_joint_XY=2851;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27384563 chr22_27384563_C_T C T 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.061;CADD_Rawscore=-0.002574;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-5348G>A|||||||rs5762102||-1||||||||||||Ensembl||C|C||||chr22:g.27384563C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=52060;gnomADv4_1_AC_joint_XX=26528;gnomADv4_1_AC_joint_XY=25532;gnomADv4_1_AF_grpmax_joint=0.711352;gnomADv4_1_AF_joint=0.342739;gnomADv4_1_AF_joint_XX=0.341468;gnomADv4_1_AF_joint_XY=0.344069;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151894;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74206;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9320;gnomADv4_1_nhomalt_joint_XX=4751;gnomADv4_1_nhomalt_joint_XY=4569;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27384768 chr22_27384768_C_CT C CT 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=1.068;CADDIndel_Rawscore=-0.000786;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-5554dup|||||||rs368612382||-1||||||||||||Ensembl|||||||chr22:g.27384779dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=51293;gnomADv4_1_AC_joint_XX=26200;gnomADv4_1_AC_joint_XY=25093;gnomADv4_1_AF_grpmax_joint=0.709879;gnomADv4_1_AF_joint=0.343428;gnomADv4_1_AF_joint_XX=0.342153;gnomADv4_1_AF_joint_XY=0.344769;gnomADv4_1_AN_grpmax_joint=5122;gnomADv4_1_AN_joint=149356;gnomADv4_1_AN_joint_XX=76574;gnomADv4_1_AN_joint_XY=72782;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9023;gnomADv4_1_nhomalt_joint_XX=4617;gnomADv4_1_nhomalt_joint_XY=4406;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27384895 chr22_27384895_A_G A G 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.637;CADD_Rawscore=-0.13274;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-5680T>C|||||||rs5762103||-1||||||||||||Ensembl||A|A||||chr22:g.27384895A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=51956;gnomADv4_1_AC_joint_XX=26492;gnomADv4_1_AC_joint_XY=25464;gnomADv4_1_AF_grpmax_joint=0.710218;gnomADv4_1_AF_joint=0.342383;gnomADv4_1_AF_joint_XX=0.341321;gnomADv4_1_AF_joint_XY=0.343495;gnomADv4_1_AN_grpmax_joint=5128;gnomADv4_1_AN_joint=151748;gnomADv4_1_AN_joint_XX=77616;gnomADv4_1_AN_joint_XY=74132;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9293;gnomADv4_1_nhomalt_joint_XX=4744;gnomADv4_1_nhomalt_joint_XY=4549;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27384957 chr22_27384957_A_C A C 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=2.829;CADD_Rawscore=0.257804;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-5742T>G|||||||rs13057732||-1||||||||||||Ensembl||A|A||||chr22:g.27384957A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=8743;gnomADv4_1_AC_joint_XX=4724;gnomADv4_1_AC_joint_XY=4019;gnomADv4_1_AF_grpmax_joint=0.0952381;gnomADv4_1_AF_joint=0.0574442;gnomADv4_1_AF_joint_XX=0.0607417;gnomADv4_1_AF_joint_XY=0.0539985;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152200;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=342;gnomADv4_1_nhomalt_joint_XX=199;gnomADv4_1_nhomalt_joint_XY=143;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27385609 chr22_27385609_C_T C T 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.144;CADD_Rawscore=-0.513176;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-6394G>A|||||||rs5752530||-1||||||||||||Ensembl||C|C||||chr22:g.27385609C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=76640;gnomADv4_1_AC_joint_XX=39192;gnomADv4_1_AC_joint_XY=37448;gnomADv4_1_AF_grpmax_joint=0.80306;gnomADv4_1_AF_joint=0.504171;gnomADv4_1_AF_joint_XX=0.504337;gnomADv4_1_AF_joint_XY=0.503997;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19737;gnomADv4_1_nhomalt_joint_XX=10076;gnomADv4_1_nhomalt_joint_XY=9661;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27385707 chr22_27385707_T_TC T TC 47 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.583;CADDIndel_Rawscore=-0.154949;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-6493dup|||||||rs11394946||-1||||||||||||Ensembl|||||||chr22:g.27385711dup|||||||||||||;TYPE=INDEL;VEP_Allele=C;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=124594;gnomADv4_1_AC_joint_XX=63673;gnomADv4_1_AC_joint_XY=60921;gnomADv4_1_AF_grpmax_joint=0.908789;gnomADv4_1_AF_joint=0.819622;gnomADv4_1_AF_joint_XX=0.819578;gnomADv4_1_AF_joint_XY=0.819668;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=51268;gnomADv4_1_nhomalt_joint_XX=26208;gnomADv4_1_nhomalt_joint_XY=25060;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27385775 chr22_27385775_C_A C A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=3.333;CADD_Rawscore=0.305566;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-6560G>T|||||||rs6005412||-1||||||||||||Ensembl||C|C||||chr22:g.27385775C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=28935;gnomADv4_1_AC_joint_XX=14948;gnomADv4_1_AC_joint_XY=13987;gnomADv4_1_AF_grpmax_joint=0.263828;gnomADv4_1_AF_joint=0.190279;gnomADv4_1_AF_joint_XX=0.192322;gnomADv4_1_AF_joint_XY=0.188144;gnomADv4_1_AN_grpmax_joint=41474;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2949;gnomADv4_1_nhomalt_joint_XX=1564;gnomADv4_1_nhomalt_joint_XY=1385;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27385822 chr22_27385822_C_T C T 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.035;CADD_Rawscore=-0.899327;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-6607G>A|||||||rs6005413||-1||||||||||||Ensembl||C|C||||chr22:g.27385822C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=22847;gnomADv4_1_AC_joint_XX=11801;gnomADv4_1_AC_joint_XY=11046;gnomADv4_1_AF_grpmax_joint=0.164754;gnomADv4_1_AF_joint=0.150181;gnomADv4_1_AF_joint_XX=0.151801;gnomADv4_1_AF_joint_XY=0.148488;gnomADv4_1_AN_grpmax_joint=41474;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1794;gnomADv4_1_nhomalt_joint_XX=929;gnomADv4_1_nhomalt_joint_XY=865;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27386248 chr22_27386248_A_G A G 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.418;CADD_Rawscore=-0.238013;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-7033T>C|||||||rs5997241||-1||||||||||||Ensembl||A|A||||chr22:g.27386248A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=73849;gnomADv4_1_AC_joint_XX=37829;gnomADv4_1_AC_joint_XY=36020;gnomADv4_1_AF_grpmax_joint=0.612381;gnomADv4_1_AF_joint=0.485465;gnomADv4_1_AF_joint_XX=0.486534;gnomADv4_1_AF_joint_XY=0.484348;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=18255;gnomADv4_1_nhomalt_joint_XX=9376;gnomADv4_1_nhomalt_joint_XY=8879;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27386265 chr22_27386265_C_T C T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.019;CADD_Rawscore=0.166478;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-7050G>A|||||||rs6519707||-1||||||||||||Ensembl||C|C||||chr22:g.27386265C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=40477;gnomADv4_1_AC_joint_XX=21355;gnomADv4_1_AC_joint_XY=19122;gnomADv4_1_AF_grpmax_joint=0.300512;gnomADv4_1_AF_joint=0.266107;gnomADv4_1_AF_joint_XX=0.274641;gnomADv4_1_AF_joint_XY=0.257182;gnomADv4_1_AN_grpmax_joint=67984;gnomADv4_1_AN_joint=152108;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5615;gnomADv4_1_nhomalt_joint_XX=3060;gnomADv4_1_nhomalt_joint_XY=2555;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27386486 chr22_27386486_G_A G A 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=2.66;CADD_Rawscore=0.240692;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-7271C>T|||||||rs9613442||-1||||||||||||Ensembl||G|G||||chr22:g.27386486G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RPZL|enhancer||||||||||rs9613442|||||||||||||||||||||chr22:g.27386486G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000729519,ENSR22_8RPZL;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280445,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=50427;gnomADv4_1_AC_joint_XX=25802;gnomADv4_1_AC_joint_XY=24625;gnomADv4_1_AF_grpmax_joint=0.532137;gnomADv4_1_AF_joint=0.331709;gnomADv4_1_AF_joint_XX=0.331987;gnomADv4_1_AF_joint_XY=0.331418;gnomADv4_1_AN_grpmax_joint=4792;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=9390;gnomADv4_1_nhomalt_joint_XX=4816;gnomADv4_1_nhomalt_joint_XY=4574;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27386490 chr22_27386490_C_G C G 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=6.42;CADD_Rawscore=0.596335;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-7275G>C|||||||rs2179102||-1||||||||||||Ensembl||C|C||||chr22:g.27386490C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RPZL|enhancer||||||||||rs2179102|||||||||||||||||||||chr22:g.27386490C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000729519,ENSR22_8RPZL;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280445,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=23528;gnomADv4_1_AC_joint_XX=12075;gnomADv4_1_AC_joint_XY=11453;gnomADv4_1_AF_grpmax_joint=0.186407;gnomADv4_1_AF_joint=0.154623;gnomADv4_1_AF_joint_XX=0.15527;gnomADv4_1_AF_joint_XY=0.153946;gnomADv4_1_AN_grpmax_joint=41522;gnomADv4_1_AN_joint=152164;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1879;gnomADv4_1_nhomalt_joint_XX=965;gnomADv4_1_nhomalt_joint_XY=914;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27387224 chr22_27387224_G_A G A 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.09;CADD_Rawscore=-0.641239;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-8009C>T|||||||rs6005414||-1||||||||||||Ensembl||G|G||||chr22:g.27387224G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=73145;gnomADv4_1_AC_joint_XX=37450;gnomADv4_1_AC_joint_XY=35695;gnomADv4_1_AF_grpmax_joint=0.621206;gnomADv4_1_AF_joint=0.481382;gnomADv4_1_AF_joint_XX=0.482069;gnomADv4_1_AF_joint_XY=0.480663;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=151948;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=17919;gnomADv4_1_nhomalt_joint_XX=9216;gnomADv4_1_nhomalt_joint_XY=8703;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27387586 chr22_27387586_A_ACCCCACC A ACCCCACC 13 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=13;CADDIndel_PHREDscore=1.085;CADDIndel_Rawscore=0.003417;CSQ=CCCCACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-8378_350-8372dup|||||||rs78017768||-1||||||||||||Ensembl|||||||chr22:g.27387602_27387608dup|||||||||||||;TYPE=INDEL;VEP_Allele=CCCCACC;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=23522;gnomADv4_1_AC_joint_XX=12969;gnomADv4_1_AC_joint_XY=10553;gnomADv4_1_AF_grpmax_joint=0.279609;gnomADv4_1_AF_joint=0.237956;gnomADv4_1_AF_joint_XX=0.24861;gnomADv4_1_AF_joint_XY=0.226052;gnomADv4_1_AN_grpmax_joint=48600;gnomADv4_1_AN_joint=98850;gnomADv4_1_AN_joint_XX=52166;gnomADv4_1_AN_joint_XY=46684;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2677;gnomADv4_1_nhomalt_joint_XX=1531;gnomADv4_1_nhomalt_joint_XY=1146;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27387808 chr22_27387808_G_A G A 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.704;CADD_Rawscore=-0.107583;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-8593C>T|||||||rs9620690||-1||||||||||||Ensembl||G|G||||chr22:g.27387808G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=39680;gnomADv4_1_AC_joint_XX=20976;gnomADv4_1_AC_joint_XY=18704;gnomADv4_1_AF_grpmax_joint=0.299826;gnomADv4_1_AF_joint=0.262448;gnomADv4_1_AF_joint_XX=0.271169;gnomADv4_1_AF_joint_XY=0.253311;gnomADv4_1_AN_grpmax_joint=67736;gnomADv4_1_AN_joint=151192;gnomADv4_1_AN_joint_XX=77354;gnomADv4_1_AN_joint_XY=73838;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5435;gnomADv4_1_nhomalt_joint_XX=2974;gnomADv4_1_nhomalt_joint_XY=2461;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27388442 chr22_27388442_G_A G A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.228;CADD_Rawscore=-0.392719;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-9227C>T|||||||rs10427935||-1||||||||||||Ensembl||G|G||||chr22:g.27388442G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=51995;gnomADv4_1_AC_joint_XX=26514;gnomADv4_1_AC_joint_XY=25481;gnomADv4_1_AF_grpmax_joint=0.713419;gnomADv4_1_AF_joint=0.342993;gnomADv4_1_AF_joint_XX=0.342037;gnomADv4_1_AF_joint_XY=0.343994;gnomADv4_1_AN_grpmax_joint=5112;gnomADv4_1_AN_joint=151592;gnomADv4_1_AN_joint_XX=77518;gnomADv4_1_AN_joint_XY=74074;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9319;gnomADv4_1_nhomalt_joint_XX=4741;gnomADv4_1_nhomalt_joint_XY=4578;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27388480 chr22_27388480_AC_A AC A 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.282;CADDIndel_Rawscore=-0.337926;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-9266del|||||||rs34076647||-1||||||||||||Ensembl||C|C||||chr22:g.27388488del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=51849;gnomADv4_1_AC_joint_XX=26465;gnomADv4_1_AC_joint_XY=25384;gnomADv4_1_AF_grpmax_joint=0.715783;gnomADv4_1_AF_joint=0.347523;gnomADv4_1_AF_joint_XX=0.346156;gnomADv4_1_AF_joint_XY=0.348959;gnomADv4_1_AN_grpmax_joint=5056;gnomADv4_1_AN_joint=149196;gnomADv4_1_AN_joint_XX=76454;gnomADv4_1_AN_joint_XY=72742;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9278;gnomADv4_1_nhomalt_joint_XX=4725;gnomADv4_1_nhomalt_joint_XY=4553;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27388497 chr22_27388497_C_T C T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.215;CADD_Rawscore=0.191148;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-9282G>A|||||||rs146583941||-1||||||||||||Ensembl||C|C||||chr22:g.27388497C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=1027;gnomADv4_1_AC_joint_XX=505;gnomADv4_1_AC_joint_XY=522;gnomADv4_1_AF_grpmax_joint=0.0363674;gnomADv4_1_AF_joint=0.00675152;gnomADv4_1_AF_joint_XX=0.00649501;gnomADv4_1_AF_joint_XY=0.00701971;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=14;gnomADv4_1_nhomalt_joint_XX=6;gnomADv4_1_nhomalt_joint_XY=8;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27388856 chr22_27388856_C_T C T 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.283;CADD_Rawscore=0.047122;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-9641G>A|||||||rs738500||-1||||||||||||Ensembl||C|C||||chr22:g.27388856C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=40824;gnomADv4_1_AC_joint_XX=21527;gnomADv4_1_AC_joint_XY=19297;gnomADv4_1_AF_grpmax_joint=0.302531;gnomADv4_1_AF_joint=0.268427;gnomADv4_1_AF_joint_XX=0.276967;gnomADv4_1_AF_joint_XY=0.259501;gnomADv4_1_AN_grpmax_joint=67970;gnomADv4_1_AN_joint=152086;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5723;gnomADv4_1_nhomalt_joint_XX=3119;gnomADv4_1_nhomalt_joint_XY=2604;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27388875 chr22_27388875_G_T G T 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.783;CADD_Rawscore=-0.080454;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-9660C>A|||||||rs738501||-1||||||||||||Ensembl||G|G||||chr22:g.27388875G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=40682;gnomADv4_1_AC_joint_XX=21456;gnomADv4_1_AC_joint_XY=19226;gnomADv4_1_AF_grpmax_joint=0.301788;gnomADv4_1_AF_joint=0.267853;gnomADv4_1_AF_joint_XX=0.276345;gnomADv4_1_AF_joint_XY=0.258971;gnomADv4_1_AN_grpmax_joint=67882;gnomADv4_1_AN_joint=151882;gnomADv4_1_AN_joint_XX=77642;gnomADv4_1_AN_joint_XY=74240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5648;gnomADv4_1_nhomalt_joint_XX=3081;gnomADv4_1_nhomalt_joint_XY=2567;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27388876 chr22_27388876_G_A G A 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=2.705;CADD_Rawscore=0.245343;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-9661C>T|||||||rs738502||-1||||||||||||Ensembl||G|G||||chr22:g.27388876G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=40684;gnomADv4_1_AC_joint_XX=21454;gnomADv4_1_AC_joint_XY=19230;gnomADv4_1_AF_grpmax_joint=0.301868;gnomADv4_1_AF_joint=0.267827;gnomADv4_1_AF_joint_XX=0.27632;gnomADv4_1_AF_joint_XY=0.258948;gnomADv4_1_AN_grpmax_joint=67864;gnomADv4_1_AN_joint=151904;gnomADv4_1_AN_joint_XX=77642;gnomADv4_1_AN_joint_XY=74262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5650;gnomADv4_1_nhomalt_joint_XX=3082;gnomADv4_1_nhomalt_joint_XY=2568;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27389141 chr22_27389141_A_C A C 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.729;CADD_Rawscore=-0.098545;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-9926T>G|||||||rs6005415||-1||||||||||||Ensembl||A|A||||chr22:g.27389141A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=54455;gnomADv4_1_AC_joint_XX=28705;gnomADv4_1_AC_joint_XY=25750;gnomADv4_1_AF_grpmax_joint=0.578655;gnomADv4_1_AF_joint=0.358422;gnomADv4_1_AF_joint_XX=0.369605;gnomADv4_1_AF_joint_XY=0.346727;gnomADv4_1_AN_grpmax_joint=41396;gnomADv4_1_AN_joint=151930;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11341;gnomADv4_1_nhomalt_joint_XX=6106;gnomADv4_1_nhomalt_joint_XY=5235;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27389158 chr22_27389158_G_A G A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.814;CADD_Rawscore=-0.070581;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-9943C>T|||||||rs738504||-1||||||||||||Ensembl||G|G||||chr22:g.27389158G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=54431;gnomADv4_1_AC_joint_XX=28692;gnomADv4_1_AC_joint_XY=25739;gnomADv4_1_AF_grpmax_joint=0.578617;gnomADv4_1_AF_joint=0.358382;gnomADv4_1_AF_joint_XX=0.369552;gnomADv4_1_AF_joint_XY=0.3467;gnomADv4_1_AN_grpmax_joint=41378;gnomADv4_1_AN_joint=151880;gnomADv4_1_AN_joint_XX=77640;gnomADv4_1_AN_joint_XY=74240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11336;gnomADv4_1_nhomalt_joint_XX=6104;gnomADv4_1_nhomalt_joint_XY=5232;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27389589 chr22_27389589_AAAAAG_A AAAAAG A 46 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=1.061;CADDIndel_Rawscore=-0.002477;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-10379_350-10375del|||||||rs145683424||-1||||||||||||Ensembl||AAAAG|AAAAG||||chr22:g.27389614_27389618del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=106107;gnomADv4_1_AC_joint_XX=55335;gnomADv4_1_AC_joint_XY=50772;gnomADv4_1_AF_grpmax_joint=0.865644;gnomADv4_1_AF_joint=0.722347;gnomADv4_1_AF_joint_XX=0.73119;gnomADv4_1_AF_joint_XY=0.71295;gnomADv4_1_AN_grpmax_joint=38986;gnomADv4_1_AN_joint=146892;gnomADv4_1_AN_joint_XX=75678;gnomADv4_1_AN_joint_XY=71214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=39281;gnomADv4_1_nhomalt_joint_XX=20651;gnomADv4_1_nhomalt_joint_XY=18630;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27389646 chr22_27389646_A_AGTGTGT;chr22_27389646_A_AGT A AGTGTGT 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=31;CADDIndel_PHREDscore=1.168;CADDIndel_Rawscore=0.022669;CSQ=GTGTGT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-10437_350-10432dup|||||||rs56394638||-1||||||||||||Ensembl|||||||chr22:g.27389683_27389688dup|||||||||||||;TYPE=INDEL;VEP_Allele=GTGTGT;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=21196;gnomADv4_1_AC_joint_XX=11202;gnomADv4_1_AC_joint_XY=9994;gnomADv4_1_AF_grpmax_joint=0.198;gnomADv4_1_AF_joint=0.155132;gnomADv4_1_AF_joint_XX=0.157173;gnomADv4_1_AF_joint_XY=0.152907;gnomADv4_1_AN_grpmax_joint=64904;gnomADv4_1_AN_joint=136632;gnomADv4_1_AN_joint_XX=71272;gnomADv4_1_AN_joint_XY=65360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1810;gnomADv4_1_nhomalt_joint_XX=947;gnomADv4_1_nhomalt_joint_XY=863;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27389646 chr22_27389646_A_AGTGTGT;chr22_27389646_A_AGT A AGT 31 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=21;CADDIndel_PHREDscore=1.23;CADDIndel_Rawscore=0.036101;CSQ=GT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-10433_350-10432dup|||||||rs56394638||-1||||||||||||Ensembl|||||||chr22:g.27389687_27389688dup|||||||||||||;TYPE=INDEL;VEP_Allele=GT;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=31814;gnomADv4_1_AC_joint_XX=16717;gnomADv4_1_AC_joint_XY=15097;gnomADv4_1_AF_grpmax_joint=0.287433;gnomADv4_1_AF_joint=0.232872;gnomADv4_1_AF_joint_XX=0.234578;gnomADv4_1_AF_joint_XY=0.231011;gnomADv4_1_AN_grpmax_joint=64916;gnomADv4_1_AN_joint=136616;gnomADv4_1_AN_joint_XX=71264;gnomADv4_1_AN_joint_XY=65352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4023;gnomADv4_1_nhomalt_joint_XX=2163;gnomADv4_1_nhomalt_joint_XY=1860;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27389734 chr22_27389734_A_G A G 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=13.33;CADD_Rawscore=1.36324;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-10519T>C|||||||rs136922||-1||||||||||||Ensembl||A|A||||chr22:g.27389734A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=91804;gnomADv4_1_AC_joint_XX=47738;gnomADv4_1_AC_joint_XY=44066;gnomADv4_1_AF_grpmax_joint=0.727665;gnomADv4_1_AF_joint=0.610513;gnomADv4_1_AF_joint_XX=0.619861;gnomADv4_1_AF_joint_XY=0.600698;gnomADv4_1_AN_grpmax_joint=40586;gnomADv4_1_AN_joint=150372;gnomADv4_1_AN_joint_XX=77014;gnomADv4_1_AN_joint_XY=73358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=28900;gnomADv4_1_nhomalt_joint_XX=15183;gnomADv4_1_nhomalt_joint_XY=13717;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27389848 chr22_27389848_T_C T C 51 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=14.99;CADD_Rawscore=1.64305;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-10633A>G|||||||rs136923||-1||||||||||||Ensembl||T|T||||chr22:g.27389848T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=94407;gnomADv4_1_AC_joint_XX=49036;gnomADv4_1_AC_joint_XY=45371;gnomADv4_1_AF_grpmax_joint=0.730128;gnomADv4_1_AF_joint=0.623214;gnomADv4_1_AF_joint_XX=0.632706;gnomADv4_1_AF_joint_XY=0.613271;gnomADv4_1_AN_grpmax_joint=41238;gnomADv4_1_AN_joint=151484;gnomADv4_1_AN_joint_XX=77502;gnomADv4_1_AN_joint_XY=73982;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=30220;gnomADv4_1_nhomalt_joint_XX=15872;gnomADv4_1_nhomalt_joint_XY=14348;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27389862 chr22_27389862_A_G A G 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=19.46;CADD_Rawscore=2.60726;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-10647T>C|||||||rs136924||-1||||||||||||Ensembl||A|A||||chr22:g.27389862A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=92352;gnomADv4_1_AC_joint_XX=47982;gnomADv4_1_AC_joint_XY=44370;gnomADv4_1_AF_grpmax_joint=0.726543;gnomADv4_1_AF_joint=0.609753;gnomADv4_1_AF_joint_XX=0.619282;gnomADv4_1_AF_joint_XY=0.599773;gnomADv4_1_AN_grpmax_joint=41224;gnomADv4_1_AN_joint=151458;gnomADv4_1_AN_joint_XX=77480;gnomADv4_1_AN_joint_XY=73978;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=29000;gnomADv4_1_nhomalt_joint_XX=15231;gnomADv4_1_nhomalt_joint_XY=13769;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27390545 chr22_27390545_C_T C T 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=5.453;CADD_Rawscore=0.499037;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-11330G>A|||||||rs136925||-1||||||||||||Ensembl||C|C||||chr22:g.27390545C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35461;gnomADv4_1_AC_joint_XX=18207;gnomADv4_1_AC_joint_XY=17254;gnomADv4_1_AF_grpmax_joint=0.289116;gnomADv4_1_AF_joint=0.233262;gnomADv4_1_AF_joint_XX=0.2343;gnomADv4_1_AF_joint_XY=0.232177;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4559;gnomADv4_1_nhomalt_joint_XX=2381;gnomADv4_1_nhomalt_joint_XY=2178;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27390764 chr22_27390764_T_C T C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.012;CADD_Rawscore=-1.21278;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-11549A>G|||||||rs136926||-1||||||||||||Ensembl||T|T||||chr22:g.27390764T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=41346;gnomADv4_1_AC_joint_XX=21091;gnomADv4_1_AC_joint_XY=20255;gnomADv4_1_AF_grpmax_joint=0.315408;gnomADv4_1_AF_joint=0.271852;gnomADv4_1_AF_joint_XX=0.271267;gnomADv4_1_AF_joint_XY=0.272464;gnomADv4_1_AN_grpmax_joint=67950;gnomADv4_1_AN_joint=152090;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6125;gnomADv4_1_nhomalt_joint_XX=3153;gnomADv4_1_nhomalt_joint_XY=2972;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27391436 chr22_27391436_A_G A G 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=4.357;CADD_Rawscore=0.397076;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-12221T>C|||||||rs7287631||-1||||||||||||Ensembl||A|A||||chr22:g.27391436A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=25503;gnomADv4_1_AC_joint_XX=13510;gnomADv4_1_AC_joint_XY=11993;gnomADv4_1_AF_grpmax_joint=0.212853;gnomADv4_1_AF_joint=0.168288;gnomADv4_1_AF_joint_XX=0.174183;gnomADv4_1_AF_joint_XY=0.162107;gnomADv4_1_AN_grpmax_joint=67906;gnomADv4_1_AN_joint=151544;gnomADv4_1_AN_joint_XX=77562;gnomADv4_1_AN_joint_XY=73982;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2310;gnomADv4_1_nhomalt_joint_XX=1262;gnomADv4_1_nhomalt_joint_XY=1048;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27391519 chr22_27391519_C_A C A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=5.7;CADD_Rawscore=0.523199;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-12304G>T|||||||rs136927||-1||||||||||||Ensembl||C|C||||chr22:g.27391519C>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RQ4L|open_chromatin_region||||||||||rs136927|||||||||||||||||||||chr22:g.27391519C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000729519,ENSR22_8RQ4L;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280445,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=37179;gnomADv4_1_AC_joint_XX=19138;gnomADv4_1_AC_joint_XY=18041;gnomADv4_1_AF_grpmax_joint=0.306897;gnomADv4_1_AF_joint=0.245909;gnomADv4_1_AF_joint_XX=0.247223;gnomADv4_1_AF_joint_XY=0.244531;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=151190;gnomADv4_1_AN_joint_XX=77412;gnomADv4_1_AN_joint_XY=73778;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5081;gnomADv4_1_nhomalt_joint_XX=2672;gnomADv4_1_nhomalt_joint_XY=2409;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27391961 chr22_27391961_C_T C T 44 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=5.624;CADD_Rawscore=0.515696;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-12746G>A|||||||rs7291496||-1||||||||||||Ensembl||C|C||||chr22:g.27391961C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=62201;gnomADv4_1_AC_joint_XX=32314;gnomADv4_1_AC_joint_XY=29887;gnomADv4_1_AF_grpmax_joint=0.513818;gnomADv4_1_AF_joint=0.413263;gnomADv4_1_AF_joint_XX=0.420022;gnomADv4_1_AF_joint_XY=0.406195;gnomADv4_1_AN_grpmax_joint=67736;gnomADv4_1_AN_joint=150512;gnomADv4_1_AN_joint_XX=76934;gnomADv4_1_AN_joint_XY=73578;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13966;gnomADv4_1_nhomalt_joint_XX=7384;gnomADv4_1_nhomalt_joint_XY=6582;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27391962 chr22_27391962_ACACACACG_A ACACACACG A 46 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=3.815;CADDIndel_Rawscore=0.348827;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-12755_350-12748del|||||||rs71194703||-1||||||||||||Ensembl||CACACACG|CACACACG||||chr22:g.27391986_27391993del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=69272;gnomADv4_1_AC_joint_XX=35827;gnomADv4_1_AC_joint_XY=33445;gnomADv4_1_AF_grpmax_joint=0.527151;gnomADv4_1_AF_joint=0.457247;gnomADv4_1_AF_joint_XX=0.462654;gnomADv4_1_AF_joint_XY=0.451593;gnomADv4_1_AN_grpmax_joint=67732;gnomADv4_1_AN_joint=151498;gnomADv4_1_AN_joint_XX=77438;gnomADv4_1_AN_joint_XY=74060;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16541;gnomADv4_1_nhomalt_joint_XX=8652;gnomADv4_1_nhomalt_joint_XY=7889;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27392396 chr22_27392396_C_G C G 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=6.077;CADD_Rawscore=0.56102;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-13181G>C|||||||rs13057514||-1||||||||||||Ensembl||C|C||||chr22:g.27392396C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=25714;gnomADv4_1_AC_joint_XX=13622;gnomADv4_1_AC_joint_XY=12092;gnomADv4_1_AF_grpmax_joint=0.214462;gnomADv4_1_AF_joint=0.169002;gnomADv4_1_AF_joint_XX=0.175139;gnomADv4_1_AF_joint_XY=0.162584;gnomADv4_1_AN_grpmax_joint=67970;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2343;gnomADv4_1_nhomalt_joint_XX=1286;gnomADv4_1_nhomalt_joint_XY=1057;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27392440 chr22_27392440_G_T G T 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=4.254;CADD_Rawscore=0.387803;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-13225C>A|||||||rs13056229||-1||||||||||||Ensembl||G|G||||chr22:g.27392440G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=25070;gnomADv4_1_AC_joint_XX=13281;gnomADv4_1_AC_joint_XY=11789;gnomADv4_1_AF_grpmax_joint=0.214488;gnomADv4_1_AF_joint=0.164819;gnomADv4_1_AF_joint_XX=0.170764;gnomADv4_1_AF_joint_XY=0.158599;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=152106;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2273;gnomADv4_1_nhomalt_joint_XX=1245;gnomADv4_1_nhomalt_joint_XY=1028;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27392819 chr22_27392819_G_T G T 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=8.571;CADD_Rawscore=0.830031;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-13604C>A|||||||rs13055758||-1||||||||||||Ensembl||G|G||||chr22:g.27392819G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=24574;gnomADv4_1_AC_joint_XX=13008;gnomADv4_1_AC_joint_XY=11566;gnomADv4_1_AF_grpmax_joint=0.214223;gnomADv4_1_AF_joint=0.161408;gnomADv4_1_AF_joint_XX=0.167194;gnomADv4_1_AF_joint_XY=0.155361;gnomADv4_1_AN_grpmax_joint=68004;gnomADv4_1_AN_joint=152248;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2213;gnomADv4_1_nhomalt_joint_XX=1207;gnomADv4_1_nhomalt_joint_XY=1006;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27393237 chr22_27393237_A_C A C 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.529;CADD_Rawscore=0.093075;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-14022T>G|||||||rs5752532||-1||||||||||||Ensembl||A|A||||chr22:g.27393237A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=116394;gnomADv4_1_AC_joint_XX=59339;gnomADv4_1_AC_joint_XY=57055;gnomADv4_1_AF_grpmax_joint=0.97853;gnomADv4_1_AF_joint=0.765156;gnomADv4_1_AF_joint_XX=0.763203;gnomADv4_1_AF_joint_XY=0.767198;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=44806;gnomADv4_1_nhomalt_joint_XX=22775;gnomADv4_1_nhomalt_joint_XY=22031;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27393256 chr22_27393256_T_C T C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=3.699;CADD_Rawscore=0.338533;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-14041A>G|||||||rs895906958||-1||||||||||||Ensembl||T|T||||chr22:g.27393256T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=118;gnomADv4_1_AC_joint_XX=56;gnomADv4_1_AC_joint_XY=62;gnomADv4_1_AF_grpmax_joint=0.00020581;gnomADv4_1_AF_joint=0.00077551;gnomADv4_1_AF_joint_XX=0.000719628;gnomADv4_1_AF_joint_XY=0.000834006;gnomADv4_1_AN_grpmax_joint=68024;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=3;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27393274 chr22_27393274_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=2.375;CADD_Rawscore=0.209762;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-14059C>T|||||||rs9613443||-1||||||||||||Ensembl||G|G||||chr22:g.27393274G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33193;gnomADv4_1_AC_joint_XX=16923;gnomADv4_1_AC_joint_XY=16270;gnomADv4_1_AF_grpmax_joint=0.287192;gnomADv4_1_AF_joint=0.218174;gnomADv4_1_AF_joint_XX=0.217626;gnomADv4_1_AF_joint_XY=0.218747;gnomADv4_1_AN_grpmax_joint=67972;gnomADv4_1_AN_joint=152140;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4393;gnomADv4_1_nhomalt_joint_XX=2275;gnomADv4_1_nhomalt_joint_XY=2118;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27394283 chr22_27394283_G_A G A 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.848;CADD_Rawscore=-0.060313;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-15068C>T|||||||rs13057507||-1||||||||||||Ensembl||G|G||||chr22:g.27394283G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=24498;gnomADv4_1_AC_joint_XX=12969;gnomADv4_1_AC_joint_XY=11529;gnomADv4_1_AF_grpmax_joint=0.21425;gnomADv4_1_AF_joint=0.160972;gnomADv4_1_AF_joint_XX=0.166731;gnomADv4_1_AF_joint_XY=0.154951;gnomADv4_1_AN_grpmax_joint=67986;gnomADv4_1_AN_joint=152188;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2208;gnomADv4_1_nhomalt_joint_XX=1205;gnomADv4_1_nhomalt_joint_XY=1003;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27394992 chr22_27394992_A_T A T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.666;CADD_Rawscore=-0.121318;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-15777T>A|||||||rs9620691||-1||||||||||||Ensembl||A|A||||chr22:g.27394992A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=145663;gnomADv4_1_AC_joint_XX=74464;gnomADv4_1_AC_joint_XY=71199;gnomADv4_1_AF_grpmax_joint=0.999027;gnomADv4_1_AF_joint=0.958007;gnomADv4_1_AF_joint_XX=0.95786;gnomADv4_1_AF_joint_XY=0.958161;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=69833;gnomADv4_1_nhomalt_joint_XX=35690;gnomADv4_1_nhomalt_joint_XY=34143;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27395452 chr22_27395452_A_AATGG A AATGG 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.249;CADDIndel_Rawscore=-0.36945;CSQ=ATGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-16241_350-16238dup|||||||rs77882587||-1||||||||||||Ensembl|||||||chr22:g.27395492_27395495dup|||||||||||||;TYPE=INDEL;VEP_Allele=ATGG;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=22897;gnomADv4_1_AC_joint_XX=11906;gnomADv4_1_AC_joint_XY=10991;gnomADv4_1_AF_grpmax_joint=0.241071;gnomADv4_1_AF_joint=0.168281;gnomADv4_1_AF_joint_XX=0.169529;gnomADv4_1_AF_joint_XY=0.16695;gnomADv4_1_AN_grpmax_joint=224;gnomADv4_1_AN_joint=136064;gnomADv4_1_AN_joint_XX=70230;gnomADv4_1_AN_joint_XY=65834;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1908;gnomADv4_1_nhomalt_joint_XX=984;gnomADv4_1_nhomalt_joint_XY=924;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27395762 chr22_27395762_GCA_G GCA G 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=38;CADDIndel_PHREDscore=0.519;CADDIndel_Rawscore=-0.183665;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-16549_350-16548del|||||||rs35220226||-1||||||||||||Ensembl||CA|CA||||chr22:g.27395783_27395784del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=75201;gnomADv4_1_AC_joint_XX=39254;gnomADv4_1_AC_joint_XY=35947;gnomADv4_1_AF_grpmax_joint=0.596825;gnomADv4_1_AF_joint=0.503529;gnomADv4_1_AF_joint_XX=0.512682;gnomADv4_1_AF_joint_XY=0.4939;gnomADv4_1_AN_grpmax_joint=40444;gnomADv4_1_AN_joint=149348;gnomADv4_1_AN_joint_XX=76566;gnomADv4_1_AN_joint_XY=72782;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=19498;gnomADv4_1_nhomalt_joint_XX=10341;gnomADv4_1_nhomalt_joint_XY=9157;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27395766 chr22_27395766_A_G A G 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.228;CADD_Rawscore=-0.392471;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-16551T>C|||||||rs28675032||-1||||||||||||Ensembl||A|A||||chr22:g.27395766A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38834;gnomADv4_1_AC_joint_XX=20010;gnomADv4_1_AC_joint_XY=18824;gnomADv4_1_AF_grpmax_joint=0.383621;gnomADv4_1_AF_joint=0.295167;gnomADv4_1_AF_joint_XX=0.296867;gnomADv4_1_AF_joint_XY=0.293382;gnomADv4_1_AN_grpmax_joint=232;gnomADv4_1_AN_joint=131566;gnomADv4_1_AN_joint_XX=67404;gnomADv4_1_AN_joint_XY=64162;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5214;gnomADv4_1_nhomalt_joint_XX=2744;gnomADv4_1_nhomalt_joint_XY=2470;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27396247 chr22_27396247_G_GTTTC G GTTTC 42 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=1.162;CADDIndel_Rawscore=0.021176;CSQ=TTTC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-17036_350-17033dup|||||||rs57283675||-1||||||||||||Ensembl|||||||chr22:g.27396267_27396270dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTC;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=71088;gnomADv4_1_AC_joint_XX=37150;gnomADv4_1_AC_joint_XY=33938;gnomADv4_1_AF_grpmax_joint=0.569111;gnomADv4_1_AF_joint=0.482018;gnomADv4_1_AF_joint_XX=0.490067;gnomADv4_1_AF_joint_XY=0.473505;gnomADv4_1_AN_grpmax_joint=66762;gnomADv4_1_AN_joint=147480;gnomADv4_1_AN_joint_XX=75806;gnomADv4_1_AN_joint_XY=71674;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=18083;gnomADv4_1_nhomalt_joint_XX=9585;gnomADv4_1_nhomalt_joint_XY=8498;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27396509 chr22_27396509_T_C T C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=3.514;CADD_Rawscore=0.321978;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-17294A>G|||||||rs6005419||-1||||||||||||Ensembl||T|T||||chr22:g.27396509T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=52104;gnomADv4_1_AC_joint_XX=27110;gnomADv4_1_AC_joint_XY=24994;gnomADv4_1_AF_grpmax_joint=0.5;gnomADv4_1_AF_joint=0.342929;gnomADv4_1_AF_joint_XX=0.349104;gnomADv4_1_AF_joint_XY=0.336475;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151938;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9384;gnomADv4_1_nhomalt_joint_XX=4941;gnomADv4_1_nhomalt_joint_XY=4443;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27396539 chr22_27396539_C_A C A 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.539;CADD_Rawscore=-0.174516;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-17324G>T|||||||rs5752534||-1||||||||||||Ensembl||C|C||||chr22:g.27396539C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=55546;gnomADv4_1_AC_joint_XX=28070;gnomADv4_1_AC_joint_XY=27476;gnomADv4_1_AF_grpmax_joint=0.751265;gnomADv4_1_AF_joint=0.365617;gnomADv4_1_AF_joint_XX=0.361419;gnomADv4_1_AF_joint_XY=0.370007;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=151924;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=74258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11313;gnomADv4_1_nhomalt_joint_XX=5721;gnomADv4_1_nhomalt_joint_XY=5592;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27396627 chr22_27396627_C_T C T 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=3.421;CADD_Rawscore=0.313547;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-17412G>A|||||||rs6005420||-1||||||||||||Ensembl||C|C||||chr22:g.27396627C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=79118;gnomADv4_1_AC_joint_XX=41163;gnomADv4_1_AC_joint_XY=37955;gnomADv4_1_AF_grpmax_joint=0.697722;gnomADv4_1_AF_joint=0.520636;gnomADv4_1_AF_joint_XX=0.529877;gnomADv4_1_AF_joint_XY=0.510972;gnomADv4_1_AN_grpmax_joint=41442;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22319;gnomADv4_1_nhomalt_joint_XX=11678;gnomADv4_1_nhomalt_joint_XY=10641;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27397328 chr22_27397328_T_C T C 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.396;CADD_Rawscore=-0.251464;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-18113A>G|||||||rs12627862||-1||||||||||||Ensembl||T|T||||chr22:g.27397328T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70134;gnomADv4_1_AC_joint_XX=35745;gnomADv4_1_AC_joint_XY=34389;gnomADv4_1_AF_grpmax_joint=0.614833;gnomADv4_1_AF_joint=0.461645;gnomADv4_1_AF_joint_XX=0.460133;gnomADv4_1_AF_joint_XY=0.463226;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=151922;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16542;gnomADv4_1_nhomalt_joint_XX=8397;gnomADv4_1_nhomalt_joint_XY=8145;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27397395 chr22_27397395_C_G C G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.685;CADD_Rawscore=-0.114262;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-18180G>C|||||||rs16984501||-1||||||||||||Ensembl||C|C||||chr22:g.27397395C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=28612;gnomADv4_1_AC_joint_XX=14356;gnomADv4_1_AC_joint_XY=14256;gnomADv4_1_AF_grpmax_joint=0.444897;gnomADv4_1_AF_joint=0.188224;gnomADv4_1_AF_joint_XX=0.18471;gnomADv4_1_AF_joint_XY=0.191902;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152010;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3000;gnomADv4_1_nhomalt_joint_XX=1482;gnomADv4_1_nhomalt_joint_XY=1518;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27397528 chr22_27397528_TAGG_T TAGG T 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.681;CADDIndel_Rawscore=-0.115738;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-18316_350-18314del|||||||rs139296824||-1||||||||||||Ensembl||AGG|AGG||||chr22:g.27397531_27397533del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=21944;gnomADv4_1_AC_joint_XX=11170;gnomADv4_1_AC_joint_XY=10774;gnomADv4_1_AF_grpmax_joint=0.234483;gnomADv4_1_AF_joint=0.144403;gnomADv4_1_AF_joint_XX=0.143754;gnomADv4_1_AF_joint_XY=0.145081;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1654;gnomADv4_1_nhomalt_joint_XX=851;gnomADv4_1_nhomalt_joint_XY=803;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27397680 chr22_27397680_G_A G A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.898;CADD_Rawscore=0.264618;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-18465C>T|||||||rs5762112||-1||||||||||||Ensembl||G|G||||chr22:g.27397680G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=99928;gnomADv4_1_AC_joint_XX=50813;gnomADv4_1_AC_joint_XY=49115;gnomADv4_1_AF_grpmax_joint=0.755102;gnomADv4_1_AF_joint=0.657404;gnomADv4_1_AF_joint_XX=0.65388;gnomADv4_1_AF_joint_XY=0.66109;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152004;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=33421;gnomADv4_1_nhomalt_joint_XX=16933;gnomADv4_1_nhomalt_joint_XY=16488;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27397885 chr22_27397885_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.334;CADD_Rawscore=-0.294419;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-18670T>C|||||||rs5752535||-1||||||||||||Ensembl||A|A||||chr22:g.27397885A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=119964;gnomADv4_1_AC_joint_XX=61281;gnomADv4_1_AC_joint_XY=58683;gnomADv4_1_AF_grpmax_joint=0.883436;gnomADv4_1_AF_joint=0.78878;gnomADv4_1_AF_joint_XX=0.788058;gnomADv4_1_AF_joint_XY=0.789535;gnomADv4_1_AN_grpmax_joint=41488;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=47751;gnomADv4_1_nhomalt_joint_XX=24364;gnomADv4_1_nhomalt_joint_XY=23387;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27398095 chr22_27398095_G_C G C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.414;CADD_Rawscore=0.214253;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.350-18880C>G|||||||rs5762113||-1||||||||||||Ensembl||G|G||||chr22:g.27398095G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RQ8F|enhancer||||||||||rs5762113|||||||||||||||||||||chr22:g.27398095G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000729519,ENSR22_8RQ8F;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280445,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=110091;gnomADv4_1_AC_joint_XX=56443;gnomADv4_1_AC_joint_XY=53648;gnomADv4_1_AF_grpmax_joint=0.817482;gnomADv4_1_AF_joint=0.723255;gnomADv4_1_AF_joint_XX=0.725451;gnomADv4_1_AF_joint_XY=0.720959;gnomADv4_1_AN_grpmax_joint=41552;gnomADv4_1_AN_joint=152216;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=40297;gnomADv4_1_nhomalt_joint_XX=20732;gnomADv4_1_nhomalt_joint_XY=19565;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27400885 chr22_27400885_A_G A G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.184;CADD_Rawscore=0.026196;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+18588T>C|||||||rs136928||-1||||||||||||Ensembl||A|A||||chr22:g.27400885A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=91441;gnomADv4_1_AC_joint_XX=46893;gnomADv4_1_AC_joint_XY=44548;gnomADv4_1_AF_grpmax_joint=0.681034;gnomADv4_1_AF_joint=0.601324;gnomADv4_1_AF_joint_XX=0.603156;gnomADv4_1_AF_joint_XY=0.599408;gnomADv4_1_AN_grpmax_joint=41484;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=27763;gnomADv4_1_nhomalt_joint_XX=14261;gnomADv4_1_nhomalt_joint_XY=13502;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27400905 chr22_27400905_C_T C T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.636;CADD_Rawscore=-0.133014;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+18568G>A|||||||rs136929||-1||||||||||||Ensembl||C|C||||chr22:g.27400905C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=97973;gnomADv4_1_AC_joint_XX=50167;gnomADv4_1_AC_joint_XY=47806;gnomADv4_1_AF_grpmax_joint=0.796984;gnomADv4_1_AF_joint=0.644152;gnomADv4_1_AF_joint_XX=0.645135;gnomADv4_1_AF_joint_XY=0.643124;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32117;gnomADv4_1_nhomalt_joint_XX=16455;gnomADv4_1_nhomalt_joint_XY=15662;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27401346 chr22_27401346_G_GATGA G GATGA 11 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=11;CADDIndel_PHREDscore=0.881;CADDIndel_Rawscore=-0.050568;CSQ=ATGA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+18126_349+18127insTCAT|||||||rs1164811478||-1||||||||||||Ensembl|||||||chr22:g.27401349_27401350insAATG|||||||||||||;TYPE=INDEL;VEP_Allele=ATGA;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=9464;gnomADv4_1_AC_joint_XX=4861;gnomADv4_1_AC_joint_XY=4603;gnomADv4_1_AF_grpmax_joint=0.255849;gnomADv4_1_AF_joint=0.247671;gnomADv4_1_AF_joint_XX=0.247783;gnomADv4_1_AF_joint_XY=0.247553;gnomADv4_1_AN_grpmax_joint=7352;gnomADv4_1_AN_joint=38212;gnomADv4_1_AN_joint_XX=19618;gnomADv4_1_AN_joint_XY=18594;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=272;gnomADv4_1_nhomalt_joint_XX=146;gnomADv4_1_nhomalt_joint_XY=126;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27401354 chr22_27401354_A_G A G 10 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=10;CADD_PHREDscore=1.769;CADD_Rawscore=0.131507;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+18119T>C|||||||rs5762122||-1||||||||||||Ensembl||A|A||||chr22:g.27401354A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=16607;gnomADv4_1_AC_joint_XX=8552;gnomADv4_1_AC_joint_XY=8055;gnomADv4_1_AF_grpmax_joint=0.456039;gnomADv4_1_AF_joint=0.340838;gnomADv4_1_AF_joint_XX=0.341043;gnomADv4_1_AF_joint_XY=0.340621;gnomADv4_1_AN_grpmax_joint=2070;gnomADv4_1_AN_joint=48724;gnomADv4_1_AN_joint_XX=25076;gnomADv4_1_AN_joint_XY=23648;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1024;gnomADv4_1_nhomalt_joint_XX=534;gnomADv4_1_nhomalt_joint_XY=490;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27401800 chr22_27401800_G_A G A 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.046;CADD_Rawscore=-0.825698;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+17673C>T|||||||rs136930||-1||||||||||||Ensembl||G|G||||chr22:g.27401800G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=92134;gnomADv4_1_AC_joint_XX=47147;gnomADv4_1_AC_joint_XY=44987;gnomADv4_1_AF_grpmax_joint=0.67862;gnomADv4_1_AF_joint=0.605834;gnomADv4_1_AF_joint_XX=0.606361;gnomADv4_1_AF_joint_XY=0.605282;gnomADv4_1_AN_grpmax_joint=41496;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=28145;gnomADv4_1_nhomalt_joint_XX=14390;gnomADv4_1_nhomalt_joint_XY=13755;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27401838 chr22_27401838_A_C A C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.412;CADD_Rawscore=-0.241733;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+17635T>G|||||||rs136931||-1||||||||||||Ensembl||A|A||||chr22:g.27401838A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=89260;gnomADv4_1_AC_joint_XX=45814;gnomADv4_1_AC_joint_XY=43446;gnomADv4_1_AF_grpmax_joint=0.665848;gnomADv4_1_AF_joint=0.586943;gnomADv4_1_AF_joint_XX=0.589172;gnomADv4_1_AF_joint_XY=0.584612;gnomADv4_1_AN_grpmax_joint=41508;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26462;gnomADv4_1_nhomalt_joint_XX=13613;gnomADv4_1_nhomalt_joint_XY=12849;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27401906 chr22_27401906_C_A C A 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.168;CADD_Rawscore=-0.47304;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+17567G>T|||||||rs136932||-1||||||||||||Ensembl||C|C||||chr22:g.27401906C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=89153;gnomADv4_1_AC_joint_XX=45733;gnomADv4_1_AC_joint_XY=43420;gnomADv4_1_AF_grpmax_joint=0.663389;gnomADv4_1_AF_joint=0.586286;gnomADv4_1_AF_joint_XX=0.588327;gnomADv4_1_AF_joint_XY=0.584152;gnomADv4_1_AN_grpmax_joint=41496;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26386;gnomADv4_1_nhomalt_joint_XX=13559;gnomADv4_1_nhomalt_joint_XY=12827;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27402368 chr22_27402368_A_G A G 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.078;CADD_Rawscore=0.281868;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+17105T>C|||||||rs79550||-1||||||||||||Ensembl||A|A||||chr22:g.27402368A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=77471;gnomADv4_1_AC_joint_XX=39588;gnomADv4_1_AC_joint_XY=37883;gnomADv4_1_AF_grpmax_joint=0.582337;gnomADv4_1_AF_joint=0.511414;gnomADv4_1_AF_joint_XX=0.510589;gnomADv4_1_AF_joint_XY=0.512279;gnomADv4_1_AN_grpmax_joint=15230;gnomADv4_1_AN_joint=151484;gnomADv4_1_AN_joint_XX=77534;gnomADv4_1_AN_joint_XY=73950;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=20222;gnomADv4_1_nhomalt_joint_XX=10306;gnomADv4_1_nhomalt_joint_XY=9916;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27402531 chr22_27402531_G_A G A 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.679;CADD_Rawscore=-0.116414;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+16942C>T|||||||rs738503||-1||||||||||||Ensembl||G|G||||chr22:g.27402531G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=77400;gnomADv4_1_AC_joint_XX=39599;gnomADv4_1_AC_joint_XY=37801;gnomADv4_1_AF_grpmax_joint=0.547379;gnomADv4_1_AF_joint=0.509358;gnomADv4_1_AF_joint_XX=0.509771;gnomADv4_1_AF_joint_XY=0.508926;gnomADv4_1_AN_grpmax_joint=67942;gnomADv4_1_AN_joint=151956;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=20025;gnomADv4_1_nhomalt_joint_XX=10247;gnomADv4_1_nhomalt_joint_XY=9778;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27402694 chr22_27402694_G_A G A 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.041;CADD_Rawscore=0.16932;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+16779C>T|||||||rs136933||-1||||||||||||Ensembl||G|G||||chr22:g.27402694G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=88079;gnomADv4_1_AC_joint_XX=45270;gnomADv4_1_AC_joint_XY=42809;gnomADv4_1_AF_grpmax_joint=0.660654;gnomADv4_1_AF_joint=0.580055;gnomADv4_1_AF_joint_XX=0.582956;gnomADv4_1_AF_joint_XY=0.577018;gnomADv4_1_AN_grpmax_joint=41412;gnomADv4_1_AN_joint=151846;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74190;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25797;gnomADv4_1_nhomalt_joint_XX=13309;gnomADv4_1_nhomalt_joint_XY=12488;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27402871 chr22_27402871_G_A G A 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.172;CADD_Rawscore=-0.466165;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+16602C>T|||||||rs5762125||-1||||||||||||Ensembl||G|G||||chr22:g.27402871G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=29370;gnomADv4_1_AC_joint_XX=14693;gnomADv4_1_AC_joint_XY=14677;gnomADv4_1_AF_grpmax_joint=0.395095;gnomADv4_1_AF_joint=0.193173;gnomADv4_1_AF_joint_XX=0.189065;gnomADv4_1_AF_joint_XY=0.197468;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3040;gnomADv4_1_nhomalt_joint_XX=1463;gnomADv4_1_nhomalt_joint_XY=1577;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27403045 chr22_27403045_C_T C T 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.008;CADD_Rawscore=-1.3338;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+16428G>A|||||||rs136934||-1||||||||||||Ensembl||C|C||||chr22:g.27403045C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=117691;gnomADv4_1_AC_joint_XX=60080;gnomADv4_1_AC_joint_XY=57611;gnomADv4_1_AF_grpmax_joint=0.879157;gnomADv4_1_AF_joint=0.77413;gnomADv4_1_AF_joint_XX=0.772852;gnomADv4_1_AF_joint_XY=0.775467;gnomADv4_1_AN_grpmax_joint=41500;gnomADv4_1_AN_joint=152030;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=46058;gnomADv4_1_nhomalt_joint_XX=23470;gnomADv4_1_nhomalt_joint_XY=22588;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27403077 chr22_27403077_A_C A C 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=5.827;CADD_Rawscore=0.535823;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+16396T>G|||||||rs2342940||-1||||||||||||Ensembl||A|A||||chr22:g.27403077A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=19964;gnomADv4_1_AC_joint_XX=10066;gnomADv4_1_AC_joint_XY=9898;gnomADv4_1_AF_grpmax_joint=0.231185;gnomADv4_1_AF_joint=0.131308;gnomADv4_1_AF_joint_XX=0.129513;gnomADv4_1_AF_joint_XY=0.133184;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1387;gnomADv4_1_nhomalt_joint_XX=673;gnomADv4_1_nhomalt_joint_XY=714;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27403290 chr22_27403290_G_A G A 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.656;CADD_Rawscore=-0.125111;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+16183C>T|||||||rs127188||-1||||||||||||Ensembl||G|G||||chr22:g.27403290G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=88163;gnomADv4_1_AC_joint_XX=45291;gnomADv4_1_AC_joint_XY=42872;gnomADv4_1_AF_grpmax_joint=0.660552;gnomADv4_1_AF_joint=0.580195;gnomADv4_1_AF_joint_XX=0.582881;gnomADv4_1_AF_joint_XY=0.577385;gnomADv4_1_AN_grpmax_joint=41432;gnomADv4_1_AN_joint=151954;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25823;gnomADv4_1_nhomalt_joint_XX=13317;gnomADv4_1_nhomalt_joint_XY=12506;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27403346 chr22_27403346_C_T C T 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=1.09;CADD_Rawscore=0.004472;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+16127G>A|||||||rs127189||-1||||||||||||Ensembl||C|C||||chr22:g.27403346C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=106973;gnomADv4_1_AC_joint_XX=54397;gnomADv4_1_AC_joint_XY=52576;gnomADv4_1_AF_grpmax_joint=0.861982;gnomADv4_1_AF_joint=0.703705;gnomADv4_1_AF_joint_XX=0.699928;gnomADv4_1_AF_joint_XY=0.707656;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=37942;gnomADv4_1_nhomalt_joint_XX=19188;gnomADv4_1_nhomalt_joint_XY=18754;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27403593 chr22_27403593_AT_A AT A 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.003;CADDIndel_Rawscore=-1.74161;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+15879del|||||||rs136936||-1||||||||||||Ensembl||T|T||||chr22:g.27403602del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=74592;gnomADv4_1_AC_joint_XX=38143;gnomADv4_1_AC_joint_XY=36449;gnomADv4_1_AF_grpmax_joint=0.547224;gnomADv4_1_AF_joint=0.491941;gnomADv4_1_AF_joint_XX=0.491559;gnomADv4_1_AF_joint_XY=0.492341;gnomADv4_1_AN_grpmax_joint=67868;gnomADv4_1_AN_joint=151628;gnomADv4_1_AN_joint_XX=77596;gnomADv4_1_AN_joint_XY=74032;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=19000;gnomADv4_1_nhomalt_joint_XX=9719;gnomADv4_1_nhomalt_joint_XY=9281;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27403907 chr22_27403907_C_T C T 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.09;CADD_Rawscore=-0.640485;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+15566G>A|||||||rs737118||-1||||||||||||Ensembl||C|C||||chr22:g.27403907C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=29366;gnomADv4_1_AC_joint_XX=14696;gnomADv4_1_AC_joint_XY=14670;gnomADv4_1_AF_grpmax_joint=0.394961;gnomADv4_1_AF_joint=0.193017;gnomADv4_1_AF_joint_XX=0.188972;gnomADv4_1_AF_joint_XY=0.197246;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3047;gnomADv4_1_nhomalt_joint_XX=1468;gnomADv4_1_nhomalt_joint_XY=1579;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27404068 chr22_27404068_C_A C A 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=3.214;CADD_Rawscore=0.294646;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+15405G>T|||||||rs12158509||-1||||||||||||Ensembl||C|C||||chr22:g.27404068C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=19744;gnomADv4_1_AC_joint_XX=9943;gnomADv4_1_AC_joint_XY=9801;gnomADv4_1_AF_grpmax_joint=0.229859;gnomADv4_1_AF_joint=0.129765;gnomADv4_1_AF_joint_XX=0.127838;gnomADv4_1_AF_joint_XY=0.13178;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1359;gnomADv4_1_nhomalt_joint_XX=655;gnomADv4_1_nhomalt_joint_XY=704;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27404494 chr22_27404494_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.222;CADD_Rawscore=-0.399909;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+14979T>C|||||||rs136937||-1||||||||||||Ensembl||A|A||||chr22:g.27404494A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=146874;gnomADv4_1_AC_joint_XX=75211;gnomADv4_1_AC_joint_XY=71663;gnomADv4_1_AF_grpmax_joint=0.993028;gnomADv4_1_AF_joint=0.966722;gnomADv4_1_AF_joint_XX=0.967967;gnomADv4_1_AF_joint_XY=0.965418;gnomADv4_1_AN_grpmax_joint=41452;gnomADv4_1_AN_joint=151930;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=71055;gnomADv4_1_nhomalt_joint_XX=36431;gnomADv4_1_nhomalt_joint_XY=34624;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27404667 chr22_27404667_CAAAGGGGA_C CAAAGGGGA C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=14.03;CADDIndel_Rawscore=1.47371;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+14798_349+14805del|||||||rs136938||-1||||||||||||Ensembl||AAAGGGGA|AAAGGGGA||||chr22:g.27404671_27404678del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=77406;gnomADv4_1_AC_joint_XX=39652;gnomADv4_1_AC_joint_XY=37754;gnomADv4_1_AF_grpmax_joint=0.54583;gnomADv4_1_AF_joint=0.511674;gnomADv4_1_AF_joint_XX=0.512565;gnomADv4_1_AF_joint_XY=0.510741;gnomADv4_1_AN_grpmax_joint=67642;gnomADv4_1_AN_joint=151280;gnomADv4_1_AN_joint_XX=77360;gnomADv4_1_AN_joint_XY=73920;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=20003;gnomADv4_1_nhomalt_joint_XX=10251;gnomADv4_1_nhomalt_joint_XY=9752;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27404874 chr22_27404874_G_C G C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.005;CADD_Rawscore=-1.47537;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+14599C>G|||||||rs136939||-1||||||||||||Ensembl||G|G||||chr22:g.27404874G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=100696;gnomADv4_1_AC_joint_XX=51514;gnomADv4_1_AC_joint_XY=49182;gnomADv4_1_AF_grpmax_joint=0.714166;gnomADv4_1_AF_joint=0.66495;gnomADv4_1_AF_joint_XX=0.664765;gnomADv4_1_AF_joint_XY=0.665143;gnomADv4_1_AN_grpmax_joint=4786;gnomADv4_1_AN_joint=151434;gnomADv4_1_AN_joint_XX=77492;gnomADv4_1_AN_joint_XY=73942;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=33678;gnomADv4_1_nhomalt_joint_XX=17238;gnomADv4_1_nhomalt_joint_XY=16440;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27404970 chr22_27404970_CT_C CT C 16 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=16;CADDIndel_PHREDscore=0.012;CADDIndel_Rawscore=-1.206;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+14502del|||||||rs34663178||-1||||||||||||Ensembl||T|T||||chr22:g.27404993del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=17746;gnomADv4_1_AC_joint_XX=9637;gnomADv4_1_AC_joint_XY=8109;gnomADv4_1_AF_grpmax_joint=0.290123;gnomADv4_1_AF_joint=0.175505;gnomADv4_1_AF_joint_XX=0.176884;gnomADv4_1_AF_joint_XY=0.173893;gnomADv4_1_AN_grpmax_joint=162;gnomADv4_1_AN_joint=101114;gnomADv4_1_AN_joint_XX=54482;gnomADv4_1_AN_joint_XY=46632;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1232;gnomADv4_1_nhomalt_joint_XX=676;gnomADv4_1_nhomalt_joint_XY=556;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27405254 chr22_27405254_C_T C T 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=5.956;CADD_Rawscore=0.548719;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+14219G>A|||||||rs73158451||-1||||||||||||Ensembl||C|C||||chr22:g.27405254C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=8502;gnomADv4_1_AC_joint_XX=4345;gnomADv4_1_AC_joint_XY=4157;gnomADv4_1_AF_grpmax_joint=0.0771256;gnomADv4_1_AF_joint=0.0559224;gnomADv4_1_AF_joint_XX=0.0559015;gnomADv4_1_AF_joint_XY=0.0559443;gnomADv4_1_AN_grpmax_joint=67980;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=301;gnomADv4_1_nhomalt_joint_XX=141;gnomADv4_1_nhomalt_joint_XY=160;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27405327 chr22_27405327_G_A G A 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.018;CADD_Rawscore=-1.08494;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+14146C>T|||||||rs136940||-1||||||||||||Ensembl||G|G||||chr22:g.27405327G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=24115;gnomADv4_1_AC_joint_XX=12263;gnomADv4_1_AC_joint_XY=11852;gnomADv4_1_AF_grpmax_joint=0.26537;gnomADv4_1_AF_joint=0.159022;gnomADv4_1_AF_joint_XX=0.158102;gnomADv4_1_AF_joint_XY=0.159985;gnomADv4_1_AN_grpmax_joint=4782;gnomADv4_1_AN_joint=151646;gnomADv4_1_AN_joint_XX=77564;gnomADv4_1_AN_joint_XY=74082;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2001;gnomADv4_1_nhomalt_joint_XX=998;gnomADv4_1_nhomalt_joint_XY=1003;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27405373 chr22_27405373_A_C A C 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.803;CADD_Rawscore=-0.073997;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+14100T>G|||||||rs136941||-1||||||||||||Ensembl||A|A||||chr22:g.27405373A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37886;gnomADv4_1_AC_joint_XX=19277;gnomADv4_1_AC_joint_XY=18609;gnomADv4_1_AF_grpmax_joint=0.429158;gnomADv4_1_AF_joint=0.249306;gnomADv4_1_AF_joint_XX=0.248172;gnomADv4_1_AF_joint_XY=0.250491;gnomADv4_1_AN_grpmax_joint=41388;gnomADv4_1_AN_joint=151966;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5741;gnomADv4_1_nhomalt_joint_XX=2875;gnomADv4_1_nhomalt_joint_XY=2866;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27406044 chr22_27406044_T_A T A 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.925;CADD_Rawscore=0.153853;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+13429A>T|||||||rs12157741||-1||||||||||||Ensembl||T|T||||chr22:g.27406044T>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DTNZ|enhancer||||||||||rs12157741|||||||||||||||||||||chr22:g.27406044T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000729519,ENSR22_9DTNZ;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280445,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=32057;gnomADv4_1_AC_joint_XX=16412;gnomADv4_1_AC_joint_XY=15645;gnomADv4_1_AF_grpmax_joint=0.371004;gnomADv4_1_AF_joint=0.210768;gnomADv4_1_AF_joint_XX=0.211054;gnomADv4_1_AF_joint_XY=0.210469;gnomADv4_1_AN_grpmax_joint=41474;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4177;gnomADv4_1_nhomalt_joint_XX=2094;gnomADv4_1_nhomalt_joint_XY=2083;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27406045 chr22_27406045_C_A C A 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=10.04;CADD_Rawscore=0.974767;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+13428G>T|||||||rs12160663||-1||||||||||||Ensembl||C|C||||chr22:g.27406045C>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DTNZ|enhancer||||||||||rs12160663|||||||||||||||||||||chr22:g.27406045C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000729519,ENSR22_9DTNZ;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280445,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=23869;gnomADv4_1_AC_joint_XX=12051;gnomADv4_1_AC_joint_XY=11818;gnomADv4_1_AF_grpmax_joint=0.257356;gnomADv4_1_AF_joint=0.156816;gnomADv4_1_AF_joint_XX=0.154881;gnomADv4_1_AF_joint_XY=0.15884;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152210;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1937;gnomADv4_1_nhomalt_joint_XX=934;gnomADv4_1_nhomalt_joint_XY=1003;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27406119 chr22_27406119_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.479;CADD_Rawscore=-0.20394;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+13354T>C|||||||rs1033536||-1||||||||||||Ensembl||A|A||||chr22:g.27406119A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DTNZ|enhancer||||||||||rs1033536|||||||||||||||||||||chr22:g.27406119A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000729519,ENSR22_9DTNZ;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280445,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=118364;gnomADv4_1_AC_joint_XX=60300;gnomADv4_1_AC_joint_XY=58064;gnomADv4_1_AF_grpmax_joint=0.868463;gnomADv4_1_AF_joint=0.778055;gnomADv4_1_AF_joint_XX=0.775323;gnomADv4_1_AF_joint_XY=0.780913;gnomADv4_1_AN_grpmax_joint=41532;gnomADv4_1_AN_joint=152128;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=46475;gnomADv4_1_nhomalt_joint_XX=23582;gnomADv4_1_nhomalt_joint_XY=22893;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27406127 chr22_27406127_G_T G T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.233;CADD_Rawscore=-0.387304;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+13346C>A|||||||rs13054757||-1||||||||||||Ensembl||G|G||||chr22:g.27406127G>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DTNZ|enhancer||||||||||rs13054757|||||||||||||||||||||chr22:g.27406127G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000729519,ENSR22_9DTNZ;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280445,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=30867;gnomADv4_1_AC_joint_XX=15760;gnomADv4_1_AC_joint_XY=15107;gnomADv4_1_AF_grpmax_joint=0.343801;gnomADv4_1_AF_joint=0.202861;gnomADv4_1_AF_joint_XX=0.202675;gnomADv4_1_AF_joint_XY=0.203057;gnomADv4_1_AN_grpmax_joint=41492;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3779;gnomADv4_1_nhomalt_joint_XX=1891;gnomADv4_1_nhomalt_joint_XY=1888;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27406617 chr22_27406617_G_A G A 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.652;CADD_Rawscore=-0.126715;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+12856C>T|||||||rs136942||-1||||||||||||Ensembl||G|G||||chr22:g.27406617G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=31788;gnomADv4_1_AC_joint_XX=16233;gnomADv4_1_AC_joint_XY=15555;gnomADv4_1_AF_grpmax_joint=0.36354;gnomADv4_1_AF_joint=0.208901;gnomADv4_1_AF_joint_XX=0.208742;gnomADv4_1_AF_joint_XY=0.209067;gnomADv4_1_AN_grpmax_joint=41492;gnomADv4_1_AN_joint=152168;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4063;gnomADv4_1_nhomalt_joint_XX=2015;gnomADv4_1_nhomalt_joint_XY=2048;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27407448 chr22_27407448_C_T C T 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.427;CADD_Rawscore=-0.232564;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+12025G>A|||||||rs136943||-1||||||||||||Ensembl||C|C||||chr22:g.27407448C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=32701;gnomADv4_1_AC_joint_XX=16372;gnomADv4_1_AC_joint_XY=16329;gnomADv4_1_AF_grpmax_joint=0.391186;gnomADv4_1_AF_joint=0.215495;gnomADv4_1_AF_joint_XX=0.210969;gnomADv4_1_AF_joint_XY=0.220234;gnomADv4_1_AN_grpmax_joint=5128;gnomADv4_1_AN_joint=151748;gnomADv4_1_AN_joint_XX=77604;gnomADv4_1_AN_joint_XY=74144;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3726;gnomADv4_1_nhomalt_joint_XX=1798;gnomADv4_1_nhomalt_joint_XY=1928;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27407653 chr22_27407653_C_CA C CA 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=1.464;CADDIndel_Rawscore=0.081738;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+11819dup|||||||rs11434446||-1||||||||||||Ensembl|||||||chr22:g.27407654dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=83027;gnomADv4_1_AC_joint_XX=42268;gnomADv4_1_AC_joint_XY=40759;gnomADv4_1_AF_grpmax_joint=0.671961;gnomADv4_1_AF_joint=0.546669;gnomADv4_1_AF_joint_XX=0.54434;gnomADv4_1_AF_joint_XY=0.549105;gnomADv4_1_AN_grpmax_joint=5100;gnomADv4_1_AN_joint=151878;gnomADv4_1_AN_joint_XX=77650;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=22869;gnomADv4_1_nhomalt_joint_XX=11573;gnomADv4_1_nhomalt_joint_XY=11296;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27408058 chr22_27408058_G_A G A 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=3.394;CADD_Rawscore=0.31109;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+11415C>T|||||||rs136944||-1||||||||||||Ensembl||G|G||||chr22:g.27408058G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=21756;gnomADv4_1_AC_joint_XX=10982;gnomADv4_1_AC_joint_XY=10774;gnomADv4_1_AF_grpmax_joint=0.257569;gnomADv4_1_AF_joint=0.1431;gnomADv4_1_AF_joint_XX=0.141269;gnomADv4_1_AF_joint_XY=0.145015;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152034;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1628;gnomADv4_1_nhomalt_joint_XX=792;gnomADv4_1_nhomalt_joint_XY=836;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27408118 chr22_27408118_T_C T C 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.629;CADD_Rawscore=0.237464;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+11355A>G|||||||rs136945||-1||||||||||||Ensembl||T|T||||chr22:g.27408118T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=21980;gnomADv4_1_AC_joint_XX=11106;gnomADv4_1_AC_joint_XY=10874;gnomADv4_1_AF_grpmax_joint=0.256442;gnomADv4_1_AF_joint=0.144594;gnomADv4_1_AF_joint_XX=0.142898;gnomADv4_1_AF_joint_XY=0.146368;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1659;gnomADv4_1_nhomalt_joint_XX=812;gnomADv4_1_nhomalt_joint_XY=847;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27408809 chr22_27408809_C_G C G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.682;CADD_Rawscore=-0.115492;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+10664G>C|||||||rs136946||-1||||||||||||Ensembl||C|C||||chr22:g.27408809C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=149608;gnomADv4_1_AC_joint_XX=76457;gnomADv4_1_AC_joint_XY=73151;gnomADv4_1_AF_grpmax_joint=0.999613;gnomADv4_1_AF_joint=0.982415;gnomADv4_1_AF_joint_XX=0.982283;gnomADv4_1_AF_joint_XY=0.982552;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152286;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73502;gnomADv4_1_nhomalt_joint_XX=37559;gnomADv4_1_nhomalt_joint_XY=35943;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27409083 chr22_27409083_C_G C G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.118;CADD_Rawscore=-0.567484;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+10390G>C|||||||rs5762129||-1||||||||||||Ensembl||C|C||||chr22:g.27409083C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=50877;gnomADv4_1_AC_joint_XX=25789;gnomADv4_1_AC_joint_XY=25088;gnomADv4_1_AF_grpmax_joint=0.811159;gnomADv4_1_AF_joint=0.335079;gnomADv4_1_AF_joint_XX=0.332059;gnomADv4_1_AF_joint_XY=0.338241;gnomADv4_1_AN_grpmax_joint=5126;gnomADv4_1_AN_joint=151836;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74172;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10485;gnomADv4_1_nhomalt_joint_XX=5296;gnomADv4_1_nhomalt_joint_XY=5189;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27409144 chr22_27409144_GCACA_G;chr22_27409144_G_GCA GCACA G 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=1.834;CADDIndel_Rawscore=0.141087;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+10325_349+10328del|||||||rs35430986||-1||||||||||||Ensembl||CACA|CACA||||chr22:g.27409165_27409168del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37228;gnomADv4_1_AC_joint_XX=18941;gnomADv4_1_AC_joint_XY=18287;gnomADv4_1_AF_grpmax_joint=0.406664;gnomADv4_1_AF_joint=0.249314;gnomADv4_1_AF_joint_XX=0.247381;gnomADv4_1_AF_joint_XY=0.251347;gnomADv4_1_AN_grpmax_joint=4982;gnomADv4_1_AN_joint=149322;gnomADv4_1_AN_joint_XX=76566;gnomADv4_1_AN_joint_XY=72756;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5126;gnomADv4_1_nhomalt_joint_XX=2594;gnomADv4_1_nhomalt_joint_XY=2532;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27409144 chr22_27409144_GCACA_G;chr22_27409144_G_GCA G GCA 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.257;CADDIndel_Rawscore=-0.361558;CSQ=CA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+10327_349+10328dup|||||||rs35430986||-1||||||||||||Ensembl|||||||chr22:g.27409167_27409168dup|||||||||||||;TYPE=INDEL;VEP_Allele=CA;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=30682;gnomADv4_1_AC_joint_XX=15666;gnomADv4_1_AC_joint_XY=15016;gnomADv4_1_AF_grpmax_joint=0.283407;gnomADv4_1_AF_joint=0.205605;gnomADv4_1_AF_joint_XX=0.20472;gnomADv4_1_AF_joint_XY=0.206536;gnomADv4_1_AN_grpmax_joint=40620;gnomADv4_1_AN_joint=149228;gnomADv4_1_AN_joint_XX=76524;gnomADv4_1_AN_joint_XY=72704;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3338;gnomADv4_1_nhomalt_joint_XX=1730;gnomADv4_1_nhomalt_joint_XY=1608;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27409502 chr22_27409502_T_C T C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.584;CADD_Rawscore=0.232733;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs136947|4991|-1||||5||||||||Ensembl||T|T||||chr22:g.27409502T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs136947|4960|-1||||||||||||Ensembl||T|T||||chr22:g.27409502T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+9971A>G|||||||rs136947||-1||||||||||||Ensembl||T|T||||chr22:g.27409502T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=81112;gnomADv4_1_AC_joint_XX=41056;gnomADv4_1_AC_joint_XY=40056;gnomADv4_1_AF_grpmax_joint=0.877377;gnomADv4_1_AF_joint=0.533899;gnomADv4_1_AF_joint_XX=0.528323;gnomADv4_1_AF_joint_XY=0.539736;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151924;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24979;gnomADv4_1_nhomalt_joint_XX=12568;gnomADv4_1_nhomalt_joint_XY=12411;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27410283 chr22_27410283_T_TAA T TAA 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.818;CADDIndel_Rawscore=-0.069309;CSQ=AA|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs3041730|4209|-1||||5||||||||Ensembl|||||||chr22:g.27410295_27410296dup|||||||||||||,AA|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs3041730|4178|-1||||||||||||Ensembl|||||||chr22:g.27410295_27410296dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+9188_349+9189dup|||||||rs3041730||-1||||||||||||Ensembl|||||||chr22:g.27410295_27410296dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=51069;gnomADv4_1_AC_joint_XX=25853;gnomADv4_1_AC_joint_XY=25216;gnomADv4_1_AF_grpmax_joint=0.808771;gnomADv4_1_AF_joint=0.348361;gnomADv4_1_AF_joint_XX=0.342678;gnomADv4_1_AF_joint_XY=0.354386;gnomADv4_1_AN_grpmax_joint=5062;gnomADv4_1_AN_joint=146598;gnomADv4_1_AN_joint_XX=75444;gnomADv4_1_AN_joint_XY=71154;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10693;gnomADv4_1_nhomalt_joint_XX=5381;gnomADv4_1_nhomalt_joint_XY=5312;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27410541 chr22_27410541_T_C T C 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.005;CADD_Rawscore=-1.50845;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs79554|3952|-1||||5||||||||Ensembl||T|T||||chr22:g.27410541T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs79554|3921|-1||||||||||||Ensembl||T|T||||chr22:g.27410541T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+8932A>G|||||||rs79554||-1||||||||||||Ensembl||T|T||||chr22:g.27410541T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=81114;gnomADv4_1_AC_joint_XX=41045;gnomADv4_1_AC_joint_XY=40069;gnomADv4_1_AF_grpmax_joint=0.875727;gnomADv4_1_AF_joint=0.533021;gnomADv4_1_AF_joint_XX=0.52772;gnomADv4_1_AF_joint_XY=0.538562;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152178;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24937;gnomADv4_1_nhomalt_joint_XX=12540;gnomADv4_1_nhomalt_joint_XY=12397;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27410928 chr22_27410928_G_T G T 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.401;CADD_Rawscore=-0.248668;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs136948|3565|-1||||5||||||||Ensembl||G|G||||chr22:g.27410928G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs136948|3534|-1||||||||||||Ensembl||G|G||||chr22:g.27410928G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+8545C>A|||||||rs136948||-1||||||||||||Ensembl||G|G||||chr22:g.27410928G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=22749;gnomADv4_1_AC_joint_XX=11453;gnomADv4_1_AC_joint_XY=11296;gnomADv4_1_AF_grpmax_joint=0.255191;gnomADv4_1_AF_joint=0.149468;gnomADv4_1_AF_joint_XX=0.147241;gnomADv4_1_AF_joint_XY=0.151795;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152200;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1769;gnomADv4_1_nhomalt_joint_XX=854;gnomADv4_1_nhomalt_joint_XY=915;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27411137 chr22_27411137_C_A C A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.582;CADD_Rawscore=-0.155248;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs16984543|3356|-1||||5||||||||Ensembl||C|C||||chr22:g.27411137C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs16984543|3325|-1||||||||||||Ensembl||C|C||||chr22:g.27411137C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+8336G>T|||||||rs16984543||-1||||||||||||Ensembl||C|C||||chr22:g.27411137C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=24142;gnomADv4_1_AC_joint_XX=12158;gnomADv4_1_AC_joint_XY=11984;gnomADv4_1_AF_grpmax_joint=0.244898;gnomADv4_1_AF_joint=0.158679;gnomADv4_1_AF_joint_XX=0.156321;gnomADv4_1_AF_joint_XY=0.161145;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1965;gnomADv4_1_nhomalt_joint_XX=1001;gnomADv4_1_nhomalt_joint_XY=964;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27411276 chr22_27411276_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.574;CADD_Rawscore=0.100704;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs5752539|3217|-1||||5||||||||Ensembl||T|T||||chr22:g.27411276T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs5752539|3186|-1||||||||||||Ensembl||T|T||||chr22:g.27411276T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+8197A>G|||||||rs5752539||-1||||||||||||Ensembl||T|T||||chr22:g.27411276T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=37448;gnomADv4_1_AC_joint_XX=18822;gnomADv4_1_AC_joint_XY=18626;gnomADv4_1_AF_grpmax_joint=0.467661;gnomADv4_1_AF_joint=0.24608;gnomADv4_1_AF_joint_XX=0.241984;gnomADv4_1_AF_joint_XY=0.250363;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152178;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5167;gnomADv4_1_nhomalt_joint_XX=2559;gnomADv4_1_nhomalt_joint_XY=2608;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27411612 chr22_27411612_T_A T A 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.008;CADD_Rawscore=-1.3375;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs136949|2881|-1||||5||||||||Ensembl||T|T||||chr22:g.27411612T>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs136949|2850|-1||||||||||||Ensembl||T|T||||chr22:g.27411612T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+7861A>T|||||||rs136949||-1||||||||||||Ensembl||T|T||||chr22:g.27411612T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=22487;gnomADv4_1_AC_joint_XX=11321;gnomADv4_1_AC_joint_XY=11166;gnomADv4_1_AF_grpmax_joint=0.255394;gnomADv4_1_AF_joint=0.147708;gnomADv4_1_AF_joint_XX=0.145544;gnomADv4_1_AF_joint_XY=0.149968;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152240;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1731;gnomADv4_1_nhomalt_joint_XX=833;gnomADv4_1_nhomalt_joint_XY=898;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27411744 chr22_27411744_C_T C T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.733;CADD_Rawscore=-0.097369;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs5752540|2749|-1||||5||||||||Ensembl||C|C||||chr22:g.27411744C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs5752540|2718|-1||||||||||||Ensembl||C|C||||chr22:g.27411744C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+7729G>A|||||||rs5752540||-1||||||||||||Ensembl||C|C||||chr22:g.27411744C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=37290;gnomADv4_1_AC_joint_XX=18723;gnomADv4_1_AC_joint_XY=18567;gnomADv4_1_AF_grpmax_joint=0.466925;gnomADv4_1_AF_joint=0.245023;gnomADv4_1_AF_joint_XX=0.240717;gnomADv4_1_AF_joint_XY=0.249523;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152190;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5129;gnomADv4_1_nhomalt_joint_XX=2536;gnomADv4_1_nhomalt_joint_XY=2593;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27411826 chr22_27411826_C_G C G 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=4.276;CADD_Rawscore=0.389747;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs6005422|2667|-1||||5||||||||Ensembl||C|C||||chr22:g.27411826C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs6005422|2636|-1||||||||||||Ensembl||C|C||||chr22:g.27411826C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+7647G>C|||||||rs6005422||-1||||||||||||Ensembl||C|C||||chr22:g.27411826C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=22747;gnomADv4_1_AC_joint_XX=11442;gnomADv4_1_AC_joint_XY=11305;gnomADv4_1_AF_grpmax_joint=0.255085;gnomADv4_1_AF_joint=0.149582;gnomADv4_1_AF_joint_XX=0.147202;gnomADv4_1_AF_joint_XY=0.152072;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1770;gnomADv4_1_nhomalt_joint_XX=852;gnomADv4_1_nhomalt_joint_XY=918;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27412225 chr22_27412225_A_G A G 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=7.774;CADD_Rawscore=0.743534;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs136950|2268|-1||||5||||||||Ensembl||A|A||||chr22:g.27412225A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs136950|2237|-1||||||||||||Ensembl||A|A||||chr22:g.27412225A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+7248T>C|||||||rs136950||-1||||||||||||Ensembl||A|A||||chr22:g.27412225A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=31397;gnomADv4_1_AC_joint_XX=15820;gnomADv4_1_AC_joint_XY=15577;gnomADv4_1_AF_grpmax_joint=0.292517;gnomADv4_1_AF_joint=0.206234;gnomADv4_1_AF_joint_XX=0.203326;gnomADv4_1_AF_joint_XY=0.209273;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152240;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3442;gnomADv4_1_nhomalt_joint_XX=1673;gnomADv4_1_nhomalt_joint_XY=1769;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27412517 chr22_27412517_C_T C T 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.119;CADD_Rawscore=-0.563958;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs136951|1976|-1||||5||||||||Ensembl||C|C||||chr22:g.27412517C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs136951|1945|-1||||||||||||Ensembl||C|C||||chr22:g.27412517C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+6956G>A|||||||rs136951||-1||||||||||||Ensembl||C|C||||chr22:g.27412517C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=72145;gnomADv4_1_AC_joint_XX=36535;gnomADv4_1_AC_joint_XY=35610;gnomADv4_1_AF_grpmax_joint=0.741293;gnomADv4_1_AF_joint=0.474214;gnomADv4_1_AF_joint_XX=0.469867;gnomADv4_1_AF_joint_XY=0.478758;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19061;gnomADv4_1_nhomalt_joint_XX=9558;gnomADv4_1_nhomalt_joint_XY=9503;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27413440 chr22_27413440_A_C A C 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.43;CADD_Rawscore=-0.231067;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs136952|1053|-1||||5||||||||Ensembl||A|A||||chr22:g.27413440A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs136952|1022|-1||||||||||||Ensembl||A|A||||chr22:g.27413440A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+6033T>G|||||||rs136952||-1||||||||||||Ensembl||A|A||||chr22:g.27413440A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=75824;gnomADv4_1_AC_joint_XX=38359;gnomADv4_1_AC_joint_XY=37465;gnomADv4_1_AF_grpmax_joint=0.872964;gnomADv4_1_AF_joint=0.499519;gnomADv4_1_AF_joint_XX=0.494241;gnomADv4_1_AF_joint_XY=0.505042;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151794;gnomADv4_1_AN_joint_XX=77612;gnomADv4_1_AN_joint_XY=74182;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21563;gnomADv4_1_nhomalt_joint_XX=10810;gnomADv4_1_nhomalt_joint_XY=10753;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27413441 chr22_27413441_C_T C T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.205;CADD_Rawscore=0.030642;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs7291247|1052|-1||||5||||||||Ensembl||C|C||||chr22:g.27413441C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs7291247|1021|-1||||||||||||Ensembl||C|C||||chr22:g.27413441C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+6032G>A|||||||rs7291247||-1||||||||||||Ensembl||C|C||||chr22:g.27413441C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=38226;gnomADv4_1_AC_joint_XX=19808;gnomADv4_1_AC_joint_XY=18418;gnomADv4_1_AF_grpmax_joint=0.456564;gnomADv4_1_AF_joint=0.251437;gnomADv4_1_AF_joint_XX=0.254936;gnomADv4_1_AF_joint_XY=0.24778;gnomADv4_1_AN_grpmax_joint=41394;gnomADv4_1_AN_joint=152030;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6116;gnomADv4_1_nhomalt_joint_XX=3224;gnomADv4_1_nhomalt_joint_XY=2892;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27414008 chr22_27414008_A_AT A AT 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=3.42;CADDIndel_Rawscore=0.313468;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs136953|484|-1||||5||||||||Ensembl|||||||chr22:g.27414015dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs136953|453|-1||||||||||||Ensembl|||||||chr22:g.27414015dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+5464dup|||||||rs136953||-1||||||||||||Ensembl|||||||chr22:g.27414015dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=25111;gnomADv4_1_AC_joint_XX=12734;gnomADv4_1_AC_joint_XY=12377;gnomADv4_1_AF_grpmax_joint=0.266528;gnomADv4_1_AF_joint=0.165074;gnomADv4_1_AF_joint_XX=0.163781;gnomADv4_1_AF_joint_XY=0.166425;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2224;gnomADv4_1_nhomalt_joint_XX=1091;gnomADv4_1_nhomalt_joint_XY=1133;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27414247 chr22_27414247_TC_T TC T 51 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.18;CADDIndel_Rawscore=-0.453858;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs136954|245|-1||||5||||||||Ensembl||C|C||||chr22:g.27414255del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs136954|214|-1||||||||||||Ensembl||C|C||||chr22:g.27414255del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+5225del|||||||rs136954||-1||||||||||||Ensembl||C|C||||chr22:g.27414255del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=81027;gnomADv4_1_AC_joint_XX=41298;gnomADv4_1_AC_joint_XY=39729;gnomADv4_1_AF_grpmax_joint=0.763097;gnomADv4_1_AF_joint=0.534267;gnomADv4_1_AF_joint_XX=0.532287;gnomADv4_1_AF_joint_XY=0.536342;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151660;gnomADv4_1_AN_joint_XX=77586;gnomADv4_1_AN_joint_XY=74074;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23447;gnomADv4_1_nhomalt_joint_XX=11885;gnomADv4_1_nhomalt_joint_XY=11562;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27415806 chr22_27415806_G_T G T 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.649;CADD_Rawscore=-0.127956;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||1/1|ENST00000623572.1:n.301-1159C>A|||||||rs34716864||-1||||5||||||||Ensembl||G|G||||chr22:g.27415806G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs34716864|601|-1||||||||||||Ensembl||G|G||||chr22:g.27415806G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+3667C>A|||||||rs34716864||-1||||||||||||Ensembl||G|G||||chr22:g.27415806G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=22559;gnomADv4_1_AC_joint_XX=11342;gnomADv4_1_AC_joint_XY=11217;gnomADv4_1_AF_grpmax_joint=0.265962;gnomADv4_1_AF_joint=0.148383;gnomADv4_1_AF_joint_XX=0.145919;gnomADv4_1_AF_joint_XY=0.150961;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1738;gnomADv4_1_nhomalt_joint_XX=835;gnomADv4_1_nhomalt_joint_XY=903;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27415907 chr22_27415907_GCACA_G GCACA G 25 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=25;CADDIndel_PHREDscore=0.644;CADDIndel_Rawscore=-0.129847;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||1/1|ENST00000623572.1:n.301-1264_301-1261del|||||||rs57978066||-1||||5||||||||Ensembl||CACA|CACA||||chr22:g.27415949_27415952del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs57978066|703|-1||||||||||||Ensembl||CACA|CACA||||chr22:g.27415949_27415952del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+3562_349+3565del|||||||rs57978066||-1||||||||||||Ensembl||CACA|CACA||||chr22:g.27415949_27415952del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=40539;gnomADv4_1_AC_joint_XX=21165;gnomADv4_1_AC_joint_XY=19374;gnomADv4_1_AF_grpmax_joint=0.424971;gnomADv4_1_AF_joint=0.351182;gnomADv4_1_AF_joint_XX=0.354096;gnomADv4_1_AF_joint_XY=0.348053;gnomADv4_1_AN_grpmax_joint=57298;gnomADv4_1_AN_joint=115436;gnomADv4_1_AN_joint_XX=59772;gnomADv4_1_AN_joint_XY=55664;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6345;gnomADv4_1_nhomalt_joint_XX=3377;gnomADv4_1_nhomalt_joint_XY=2968;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27415916 chr22_27415916_C_CACAG C CACAG 26 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=26;CADDIndel_PHREDscore=0.727;CADDIndel_Rawscore=-0.099374;CSQ=ACAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||1/1|ENST00000623572.1:n.301-1270_301-1269insCTGT|||||||rs1555900495||-1||||5||||||||Ensembl|||||||chr22:g.27415919_27415920insGACA|||||||||||||,ACAG|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs1555900495|711|-1||||||||||||Ensembl|||||||chr22:g.27415919_27415920insGACA|||||||||||||,ACAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+3556_349+3557insCTGT|||||||rs1555900495||-1||||||||||||Ensembl|||||||chr22:g.27415919_27415920insGACA|||||||||||||;TYPE=INDEL;VEP_Allele=ACAG,ACAG,ACAG;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=4069;gnomADv4_1_AC_joint_XX=2195;gnomADv4_1_AC_joint_XY=1874;gnomADv4_1_AF_grpmax_joint=0.0979936;gnomADv4_1_AF_joint=0.0314807;gnomADv4_1_AF_joint_XX=0.0330622;gnomADv4_1_AF_joint_XY=0.0298104;gnomADv4_1_AN_grpmax_joint=33492;gnomADv4_1_AN_joint=129254;gnomADv4_1_AN_joint_XX=66390;gnomADv4_1_AN_joint_XY=62864;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=148;gnomADv4_1_nhomalt_joint_XX=82;gnomADv4_1_nhomalt_joint_XY=66;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27415918 chr22_27415918_C_CAG C CAG 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=19;CADDIndel_PHREDscore=1.042;CADDIndel_Rawscore=-0.007177;CSQ=AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||1/1|ENST00000623572.1:n.301-1272_301-1271insCT|||||||rs55794074||-1||||5||||||||Ensembl|||||||chr22:g.27415919_27415920insGA|||||||||||||,AG|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs55794074|713|-1||||||||||||Ensembl|||||||chr22:g.27415919_27415920insGA|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+3554_349+3555insCT|||||||rs55794074||-1||||||||||||Ensembl|||||||chr22:g.27415919_27415920insGA|||||||||||||;TYPE=INDEL;VEP_Allele=AG,AG,AG;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=38721;gnomADv4_1_AC_joint_XX=19654;gnomADv4_1_AC_joint_XY=19067;gnomADv4_1_AF_grpmax_joint=0.44186;gnomADv4_1_AF_joint=0.283127;gnomADv4_1_AF_joint_XX=0.27978;gnomADv4_1_AF_joint_XY=0.286661;gnomADv4_1_AN_grpmax_joint=258;gnomADv4_1_AN_joint=136762;gnomADv4_1_AN_joint_XX=70248;gnomADv4_1_AN_joint_XY=66514;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5215;gnomADv4_1_nhomalt_joint_XX=2582;gnomADv4_1_nhomalt_joint_XY=2633;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27415951 chr22_27415951_A_ACACC;chr22_27415951_A_ACCCC A ACACC 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=16;CADDIndel_PHREDscore=1.894;CADDIndel_Rawscore=0.149487;CSQ=CACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||1/1|ENST00000623572.1:n.301-1305_301-1304insGGTG|||||||rs71194709||-1||||5||||||||Ensembl|||||||chr22:g.27415952_27415953insACCC|||||||||||||,CACC|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs71194709|746|-1||||||||||||Ensembl|||||||chr22:g.27415952_27415953insACCC|||||||||||||,CACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+3521_349+3522insGGTG|||||||rs71194709||-1||||||||||||Ensembl|||||||chr22:g.27415952_27415953insACCC|||||||||||||;TYPE=INDEL;VEP_Allele=CACC,CACC,CACC;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=7060;gnomADv4_1_AC_joint_XX=3550;gnomADv4_1_AC_joint_XY=3510;gnomADv4_1_AF_grpmax_joint=0.0921986;gnomADv4_1_AF_joint=0.0498032;gnomADv4_1_AF_joint_XX=0.0486475;gnomADv4_1_AF_joint_XY=0.0510293;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=141758;gnomADv4_1_AN_joint_XX=72974;gnomADv4_1_AN_joint_XY=68784;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=206;gnomADv4_1_nhomalt_joint_XX=100;gnomADv4_1_nhomalt_joint_XY=106;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27415951 chr22_27415951_A_ACACC;chr22_27415951_A_ACCCC A ACCCC 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=18;CADDIndel_PHREDscore=1.899;CADDIndel_Rawscore=0.15024;CSQ=CCCC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||1/1|ENST00000623572.1:n.301-1305_301-1304insGGGG|||||||rs1555900506||-1||||5||||||||Ensembl|||||||chr22:g.27415954_27415955insCCCC|||||||||||||,CCCC|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs1555900506|746|-1||||||||||||Ensembl|||||||chr22:g.27415954_27415955insCCCC|||||||||||||,CCCC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+3521_349+3522insGGGG|||||||rs1555900506||-1||||||||||||Ensembl|||||||chr22:g.27415954_27415955insCCCC|||||||||||||;TYPE=INDEL;VEP_Allele=CCCC,CCCC,CCCC;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=1939;gnomADv4_1_AC_joint_XX=1005;gnomADv4_1_AC_joint_XY=934;gnomADv4_1_AF_grpmax_joint=0.0204634;gnomADv4_1_AF_joint=0.0136761;gnomADv4_1_AF_joint_XX=0.0137705;gnomADv4_1_AF_joint_XY=0.013576;gnomADv4_1_AN_grpmax_joint=62844;gnomADv4_1_AN_joint=141780;gnomADv4_1_AN_joint_XX=72982;gnomADv4_1_AN_joint_XY=68798;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=20;gnomADv4_1_nhomalt_joint_XX=10;gnomADv4_1_nhomalt_joint_XY=10;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27417316 chr22_27417316_C_G C G 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=2.248;CADD_Rawscore=0.195052;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||1/1|ENST00000623572.1:n.300+2098G>C|||||||rs6005423||-1||||5||||||||Ensembl||C|C||||chr22:g.27417316C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs6005423|2111|-1||||||||||||Ensembl||C|C||||chr22:g.27417316C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+2157G>C|||||||rs6005423||-1||||||||||||Ensembl||C|C||||chr22:g.27417316C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4PG9|enhancer||||||||||rs6005423|||||||||||||||||||||chr22:g.27417316C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519,ENSR22_C4PG9;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445,.;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=22709;gnomADv4_1_AC_joint_XX=11414;gnomADv4_1_AC_joint_XY=11295;gnomADv4_1_AF_grpmax_joint=0.268353;gnomADv4_1_AF_joint=0.149307;gnomADv4_1_AF_joint_XX=0.1468;gnomADv4_1_AF_joint_XY=0.151929;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1748;gnomADv4_1_nhomalt_joint_XX=839;gnomADv4_1_nhomalt_joint_XY=909;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27417740 chr22_27417740_G_A G A 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.198;CADD_Rawscore=-0.429408;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||1/1|ENST00000623572.1:n.300+1674C>T|||||||rs136955||-1||||5||||||||Ensembl||G|G||||chr22:g.27417740G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs136955|2535|-1||||||||||||Ensembl||G|G||||chr22:g.27417740G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+1733C>T|||||||rs136955||-1||||||||||||Ensembl||G|G||||chr22:g.27417740G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=22674;gnomADv4_1_AC_joint_XX=11399;gnomADv4_1_AC_joint_XY=11275;gnomADv4_1_AF_grpmax_joint=0.264633;gnomADv4_1_AF_joint=0.14903;gnomADv4_1_AF_joint_XX=0.146573;gnomADv4_1_AF_joint_XY=0.151599;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1739;gnomADv4_1_nhomalt_joint_XX=835;gnomADv4_1_nhomalt_joint_XY=904;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27417790 chr22_27417790_G_T G T 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=2.663;CADD_Rawscore=0.24097;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||1/1|ENST00000623572.1:n.300+1624C>A|||||||rs136956||-1||||5||||||||Ensembl||G|G||||chr22:g.27417790G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs136956|2585|-1||||||||||||Ensembl||G|G||||chr22:g.27417790G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+1683C>A|||||||rs136956||-1||||||||||||Ensembl||G|G||||chr22:g.27417790G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=22580;gnomADv4_1_AC_joint_XX=11348;gnomADv4_1_AC_joint_XY=11232;gnomADv4_1_AF_grpmax_joint=0.263191;gnomADv4_1_AF_joint=0.148474;gnomADv4_1_AF_joint_XX=0.146023;gnomADv4_1_AF_joint_XY=0.151037;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1727;gnomADv4_1_nhomalt_joint_XX=831;gnomADv4_1_nhomalt_joint_XY=896;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27418109 chr22_27418109_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=8.021;CADD_Rawscore=0.771152;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||1/1|ENST00000623572.1:n.300+1305C>T|||||||rs738505||-1||||5||||||||Ensembl||G|G||||chr22:g.27418109G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs738505|2904|-1||||||||||||Ensembl||G|G||||chr22:g.27418109G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+1364C>T|||||||rs738505||-1||||||||||||Ensembl||G|G||||chr22:g.27418109G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=43067;gnomADv4_1_AC_joint_XX=22174;gnomADv4_1_AC_joint_XY=20893;gnomADv4_1_AF_grpmax_joint=0.371783;gnomADv4_1_AF_joint=0.283093;gnomADv4_1_AF_joint_XX=0.285174;gnomADv4_1_AF_joint_XY=0.280918;gnomADv4_1_AN_grpmax_joint=41492;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6432;gnomADv4_1_nhomalt_joint_XX=3356;gnomADv4_1_nhomalt_joint_XY=3076;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27418121 chr22_27418121_C_T C T 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=5.446;CADD_Rawscore=0.498363;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||1/1|ENST00000623572.1:n.300+1293G>A|||||||rs11703946||-1||||5||||||||Ensembl||C|C||||chr22:g.27418121C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs11703946|2916|-1||||||||||||Ensembl||C|C||||chr22:g.27418121C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+1352G>A|||||||rs11703946||-1||||||||||||Ensembl||C|C||||chr22:g.27418121C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=38062;gnomADv4_1_AC_joint_XX=19728;gnomADv4_1_AC_joint_XY=18334;gnomADv4_1_AF_grpmax_joint=0.361992;gnomADv4_1_AF_joint=0.250056;gnomADv4_1_AF_joint_XX=0.25358;gnomADv4_1_AF_joint_XY=0.246372;gnomADv4_1_AN_grpmax_joint=67996;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6142;gnomADv4_1_nhomalt_joint_XX=3206;gnomADv4_1_nhomalt_joint_XY=2936;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27418353 chr22_27418353_G_A G A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.183;CADD_Rawscore=-0.450585;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||1/1|ENST00000623572.1:n.300+1061C>T|||||||rs79556||-1||||5||||||||Ensembl||G|G||||chr22:g.27418353G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs79556|3148|-1||||||||||||Ensembl||G|G||||chr22:g.27418353G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+1120C>T|||||||rs79556||-1||||||||||||Ensembl||G|G||||chr22:g.27418353G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=114054;gnomADv4_1_AC_joint_XX=58628;gnomADv4_1_AC_joint_XY=55426;gnomADv4_1_AF_grpmax_joint=0.783972;gnomADv4_1_AF_joint=0.750049;gnomADv4_1_AF_joint_XX=0.754116;gnomADv4_1_AF_joint_XY=0.745795;gnomADv4_1_AN_grpmax_joint=41490;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=43411;gnomADv4_1_nhomalt_joint_XX=22372;gnomADv4_1_nhomalt_joint_XY=21039;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27418456 chr22_27418456_C_T C T 35 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.064;CADD_Rawscore=-0.731649;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||1/1|ENST00000623572.1:n.300+958G>A|||||||rs79557||-1||||5||||||||Ensembl||C|C||||chr22:g.27418456C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs79557|3251|-1||||||||||||Ensembl||C|C||||chr22:g.27418456C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+1017G>A|||||||rs79557||-1||||||||||||Ensembl||C|C||||chr22:g.27418456C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=22740;gnomADv4_1_AC_joint_XX=11416;gnomADv4_1_AC_joint_XY=11324;gnomADv4_1_AF_grpmax_joint=0.262599;gnomADv4_1_AF_joint=0.149511;gnomADv4_1_AF_joint_XX=0.146848;gnomADv4_1_AF_joint_XY=0.152294;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1759;gnomADv4_1_nhomalt_joint_XX=840;gnomADv4_1_nhomalt_joint_XY=919;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27418643 chr22_27418643_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=4.879;CADD_Rawscore=0.444534;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||1/1|ENST00000623572.1:n.300+771A>G|||||||rs136957||-1||||5||||||||Ensembl||T|T||||chr22:g.27418643T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs136957|3438|-1||||||||||||Ensembl||T|T||||chr22:g.27418643T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+830A>G|||||||rs136957||-1||||||||||||Ensembl||T|T||||chr22:g.27418643T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=120227;gnomADv4_1_AC_joint_XX=61684;gnomADv4_1_AC_joint_XY=58543;gnomADv4_1_AF_grpmax_joint=0.846939;gnomADv4_1_AF_joint=0.790063;gnomADv4_1_AF_joint_XX=0.793017;gnomADv4_1_AF_joint_XY=0.786974;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152174;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=47913;gnomADv4_1_nhomalt_joint_XX=24626;gnomADv4_1_nhomalt_joint_XY=23287;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27418671 chr22_27418671_TATGA_T TATGA T 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=9.633;CADDIndel_Rawscore=0.93756;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||1/1|ENST00000623572.1:n.300+739_300+742del|||||||rs57017093||-1||||5||||||||Ensembl||ATGA|ATGA||||chr22:g.27418701_27418704del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs57017093|3467|-1||||||||||||Ensembl||ATGA|ATGA||||chr22:g.27418701_27418704del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+798_349+801del|||||||rs57017093||-1||||||||||||Ensembl||ATGA|ATGA||||chr22:g.27418701_27418704del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=85223;gnomADv4_1_AC_joint_XX=44068;gnomADv4_1_AC_joint_XY=41155;gnomADv4_1_AF_grpmax_joint=0.609938;gnomADv4_1_AF_joint=0.565664;gnomADv4_1_AF_joint_XX=0.57111;gnomADv4_1_AF_joint_XY=0.559947;gnomADv4_1_AN_grpmax_joint=67638;gnomADv4_1_AN_joint=150660;gnomADv4_1_AN_joint_XX=77162;gnomADv4_1_AN_joint_XY=73498;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=24491;gnomADv4_1_nhomalt_joint_XX=12755;gnomADv4_1_nhomalt_joint_XY=11736;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27419228 chr22_27419228_GTAA_G GTAA G 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=4.717;CADDIndel_Rawscore=0.429632;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||1/1|ENST00000623572.1:n.300+183_300+185del|||||||rs143073556||-1||||5||||||||Ensembl||TAA|TAA||||chr22:g.27419246_27419248del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs143073556|4024|-1||||||||||||Ensembl||TAA|TAA||||chr22:g.27419246_27419248del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||2/2|ENST00000729519.1:n.349+242_349+244del|||||||rs143073556||-1||||||||||||Ensembl||TAA|TAA||||chr22:g.27419246_27419248del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=80855;gnomADv4_1_AC_joint_XX=41817;gnomADv4_1_AC_joint_XY=39038;gnomADv4_1_AF_grpmax_joint=0.605859;gnomADv4_1_AF_joint=0.534289;gnomADv4_1_AF_joint_XX=0.539825;gnomADv4_1_AF_joint_XY=0.528483;gnomADv4_1_AN_grpmax_joint=67788;gnomADv4_1_AN_joint=151332;gnomADv4_1_AN_joint_XX=77464;gnomADv4_1_AN_joint_XY=73868;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=22336;gnomADv4_1_nhomalt_joint_XX=11609;gnomADv4_1_nhomalt_joint_XY=10727;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27419530 chr22_27419530_A_G A G 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=2.426;CADD_Rawscore=0.215548;CSQ=G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA|1/2||ENST00000623572.1:n.184T>C||184|||||rs136958||-1||||5||||||||Ensembl||A|A||||chr22:g.27419530A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs136958|4325|-1||||||||||||Ensembl||A|A||||chr22:g.27419530A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA|2/3||ENST00000729519.1:n.292T>C||292|||||rs136958||-1||||||||||||Ensembl||A|A||||chr22:g.27419530A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=114204;gnomADv4_1_AC_joint_XX=58707;gnomADv4_1_AC_joint_XY=55497;gnomADv4_1_AF_grpmax_joint=0.788746;gnomADv4_1_AF_joint=0.750434;gnomADv4_1_AF_joint_XX=0.754822;gnomADv4_1_AF_joint_XY=0.745847;gnomADv4_1_AN_grpmax_joint=41514;gnomADv4_1_AN_joint=152184;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=43485;gnomADv4_1_nhomalt_joint_XX=22429;gnomADv4_1_nhomalt_joint_XY=21056;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27419603 chr22_27419603_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.645;CADD_Rawscore=0.239124;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA|1/2||ENST00000623572.1:n.111A>G||111|||||rs136959||-1||||5||||||||Ensembl||T|T||||chr22:g.27419603T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs136959|4398|-1||||||||||||Ensembl||T|T||||chr22:g.27419603T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA|2/3||ENST00000729519.1:n.219A>G||219|||||rs136959||-1||||||||||||Ensembl||T|T||||chr22:g.27419603T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_73LJDP|enhancer||||||||||rs136959|||||||||||||||||||||chr22:g.27419603T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519,ENSR22_73LJDP;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445,.;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=119233;gnomADv4_1_AC_joint_XX=61139;gnomADv4_1_AC_joint_XY=58094;gnomADv4_1_AF_grpmax_joint=0.843537;gnomADv4_1_AF_joint=0.783737;gnomADv4_1_AF_joint_XX=0.786253;gnomADv4_1_AF_joint_XY=0.781106;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=47089;gnomADv4_1_nhomalt_joint_XX=24182;gnomADv4_1_nhomalt_joint_XY=22907;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27419774 chr22_27419774_G_A G A 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=10.26;CADD_Rawscore=0.993645;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs11705321|61|-1||||5||||||||Ensembl||G|G||||chr22:g.27419774G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs11705321|4569|-1||||||||||||Ensembl||G|G||||chr22:g.27419774G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||1/2|ENST00000729519.1:n.210-162C>T|||||||rs11705321||-1||||||||||||Ensembl||G|G||||chr22:g.27419774G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_73LJDS|promoter||||||||||rs11705321|||||||||||||||||||||chr22:g.27419774G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519,ENSR22_73LJDS;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445,.;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=36072;gnomADv4_1_AC_joint_XX=18668;gnomADv4_1_AC_joint_XY=17404;gnomADv4_1_AF_grpmax_joint=0.341913;gnomADv4_1_AF_joint=0.237175;gnomADv4_1_AF_joint_XX=0.240158;gnomADv4_1_AF_joint_XY=0.234057;gnomADv4_1_AN_grpmax_joint=67950;gnomADv4_1_AN_joint=152090;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5512;gnomADv4_1_nhomalt_joint_XX=2862;gnomADv4_1_nhomalt_joint_XY=2650;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27420149 chr22_27420149_C_G C G 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.733;CADD_Rawscore=-0.097436;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs6005425|436|-1||||5||||||||Ensembl||C|C||||chr22:g.27420149C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000625043|lncRNA||||||||||rs6005425|4944|-1||||||||||||Ensembl||C|C||||chr22:g.27420149C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||1/2|ENST00000729519.1:n.209+345G>C|||||||rs6005425||-1||||||||||||Ensembl||C|C||||chr22:g.27420149C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000623572,ENST00000625043,ENST00000729519;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=23357;gnomADv4_1_AC_joint_XX=11772;gnomADv4_1_AC_joint_XY=11585;gnomADv4_1_AF_grpmax_joint=0.264033;gnomADv4_1_AF_joint=0.153673;gnomADv4_1_AF_joint_XX=0.15151;gnomADv4_1_AF_joint_XY=0.155935;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1872;gnomADv4_1_nhomalt_joint_XX=912;gnomADv4_1_nhomalt_joint_XY=960;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27420553 chr22_27420553_G_A G A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.111;CADD_Rawscore=-0.582796;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs127190|840|-1||||5||||||||Ensembl||G|G||||chr22:g.27420553G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA|1/3||ENST00000729519.1:n.150C>T||150|||||rs127190||-1||||||||||||Ensembl||G|G||||chr22:g.27420553G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DTT6|enhancer||||||||||rs127190|||||||||||||||||||||chr22:g.27420553G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000623572,ENST00000729519,ENSR22_9DTT6;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280445,ENSG00000280445,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=117401;gnomADv4_1_AC_joint_XX=60449;gnomADv4_1_AC_joint_XY=56952;gnomADv4_1_AF_grpmax_joint=0.844725;gnomADv4_1_AF_joint=0.773811;gnomADv4_1_AF_joint_XX=0.778882;gnomADv4_1_AF_joint_XY=0.7685;gnomADv4_1_AN_grpmax_joint=41404;gnomADv4_1_AN_joint=151718;gnomADv4_1_AN_joint_XX=77610;gnomADv4_1_AN_joint_XY=74108;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=46045;gnomADv4_1_nhomalt_joint_XX=23808;gnomADv4_1_nhomalt_joint_XY=22237;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27420595 chr22_27420595_T_G T G 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.086;CADD_Rawscore=0.175127;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs136961|882|-1||||5||||||||Ensembl||T|T||||chr22:g.27420595T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA|1/3||ENST00000729519.1:n.108A>C||108|||||rs136961||-1||||||||||||Ensembl||T|T||||chr22:g.27420595T>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DTT6|enhancer||||||||||rs136961|||||||||||||||||||||chr22:g.27420595T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000623572,ENST00000729519,ENSR22_9DTT6;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280445,ENSG00000280445,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=23381;gnomADv4_1_AC_joint_XX=11788;gnomADv4_1_AC_joint_XY=11593;gnomADv4_1_AF_grpmax_joint=0.263598;gnomADv4_1_AF_joint=0.153964;gnomADv4_1_AF_joint_XX=0.151786;gnomADv4_1_AF_joint_XY=0.156244;gnomADv4_1_AN_grpmax_joint=4780;gnomADv4_1_AN_joint=151860;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74198;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1881;gnomADv4_1_nhomalt_joint_XX=911;gnomADv4_1_nhomalt_joint_XY=970;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27420823 chr22_27420823_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=16.65;CADD_Rawscore=1.97778;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs733164|1110|-1||||5||||||||Ensembl||G|G||||chr22:g.27420823G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs733164|121|-1||||||||||||Ensembl||G|G||||chr22:g.27420823G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DTTB|promoter||||||||||rs733164|||||||||||||||||||||chr22:g.27420823G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000623572,ENST00000729519,ENSR22_9DTTB;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000280445,ENSG00000280445,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=45621;gnomADv4_1_AC_joint_XX=23568;gnomADv4_1_AC_joint_XY=22053;gnomADv4_1_AF_grpmax_joint=0.35034;gnomADv4_1_AF_joint=0.300016;gnomADv4_1_AF_joint_XX=0.303227;gnomADv4_1_AF_joint_XY=0.296659;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6974;gnomADv4_1_nhomalt_joint_XX=3660;gnomADv4_1_nhomalt_joint_XY=3314;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27421339 chr22_27421339_T_C T C 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.205;CADD_Rawscore=0.030748;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs6005427|1626|-1||||5||||||||Ensembl||T|T||||chr22:g.27421339T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs6005427|637|-1||||||||||||Ensembl||T|T||||chr22:g.27421339T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=32905;gnomADv4_1_AC_joint_XX=16844;gnomADv4_1_AC_joint_XY=16061;gnomADv4_1_AF_grpmax_joint=0.286134;gnomADv4_1_AF_joint=0.216267;gnomADv4_1_AF_joint_XX=0.216571;gnomADv4_1_AF_joint_XY=0.215949;gnomADv4_1_AN_grpmax_joint=41498;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3801;gnomADv4_1_nhomalt_joint_XX=1938;gnomADv4_1_nhomalt_joint_XY=1863;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27421401 chr22_27421401_A_T A T 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.151;CADD_Rawscore=-0.50105;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs4820755|1688|-1||||5||||||||Ensembl||A|A||||chr22:g.27421401A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs4820755|699|-1||||||||||||Ensembl||A|A||||chr22:g.27421401A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=87024;gnomADv4_1_AC_joint_XX=44617;gnomADv4_1_AC_joint_XY=42407;gnomADv4_1_AF_grpmax_joint=0.780284;gnomADv4_1_AF_joint=0.572127;gnomADv4_1_AF_joint_XX=0.573926;gnomADv4_1_AF_joint_XY=0.570247;gnomADv4_1_AN_grpmax_joint=41540;gnomADv4_1_AN_joint=152106;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26305;gnomADv4_1_nhomalt_joint_XX=13492;gnomADv4_1_nhomalt_joint_XY=12813;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27421815 chr22_27421815_T_C T C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.964;CADD_Rawscore=-0.027207;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs6005428|2102|-1||||5||||||||Ensembl||T|T||||chr22:g.27421815T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs6005428|1113|-1||||||||||||Ensembl||T|T||||chr22:g.27421815T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=85912;gnomADv4_1_AC_joint_XX=44110;gnomADv4_1_AC_joint_XY=41802;gnomADv4_1_AF_grpmax_joint=0.74531;gnomADv4_1_AF_joint=0.565933;gnomADv4_1_AF_joint_XX=0.568047;gnomADv4_1_AF_joint_XY=0.563719;gnomADv4_1_AN_grpmax_joint=41364;gnomADv4_1_AN_joint=151806;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74154;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25462;gnomADv4_1_nhomalt_joint_XX=13100;gnomADv4_1_nhomalt_joint_XY=12362;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27421869 chr22_27421869_T_A T A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.957;CADD_Rawscore=-0.029275;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs6005429|2156|-1||||5||||||||Ensembl||T|T||||chr22:g.27421869T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs6005429|1167|-1||||||||||||Ensembl||T|T||||chr22:g.27421869T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=84457;gnomADv4_1_AC_joint_XX=43485;gnomADv4_1_AC_joint_XY=40972;gnomADv4_1_AF_grpmax_joint=0.743409;gnomADv4_1_AF_joint=0.562822;gnomADv4_1_AF_joint_XX=0.565048;gnomADv4_1_AF_joint_XY=0.560477;gnomADv4_1_AN_grpmax_joint=40512;gnomADv4_1_AN_joint=150060;gnomADv4_1_AN_joint_XX=76958;gnomADv4_1_AN_joint_XY=73102;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24950;gnomADv4_1_nhomalt_joint_XX=12872;gnomADv4_1_nhomalt_joint_XY=12078;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27421884 chr22_27421884_C_CTT;chr22_27421884_CTT_C C CTT 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.16;CADDIndel_Rawscore=-0.484939;CSQ=TT|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs59621095|2171|-1||||5||||||||Ensembl|||||||chr22:g.27421899_27421900dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs59621095|1182|-1||||||||||||Ensembl|||||||chr22:g.27421899_27421900dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=20297;gnomADv4_1_AC_joint_XX=10703;gnomADv4_1_AC_joint_XY=9594;gnomADv4_1_AF_grpmax_joint=0.254892;gnomADv4_1_AF_joint=0.153528;gnomADv4_1_AF_joint_XX=0.154668;gnomADv4_1_AF_joint_XY=0.152276;gnomADv4_1_AN_grpmax_joint=4088;gnomADv4_1_AN_joint=132204;gnomADv4_1_AN_joint_XX=69200;gnomADv4_1_AN_joint_XY=63004;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1796;gnomADv4_1_nhomalt_joint_XX=896;gnomADv4_1_nhomalt_joint_XY=900;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27421884 chr22_27421884_C_CTT;chr22_27421884_CTT_C CTT C 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADDIndel_PHREDscore=0.198;CADDIndel_Rawscore=-0.429271;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs59621095|2172|-1||||5||||||||Ensembl||TT|TT||||chr22:g.27421899_27421900del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs59621095|1183|-1||||||||||||Ensembl||TT|TT||||chr22:g.27421899_27421900del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=46518;gnomADv4_1_AC_joint_XX=24367;gnomADv4_1_AC_joint_XY=22151;gnomADv4_1_AF_grpmax_joint=0.498094;gnomADv4_1_AF_joint=0.352468;gnomADv4_1_AF_joint_XX=0.352818;gnomADv4_1_AF_joint_XY=0.352084;gnomADv4_1_AN_grpmax_joint=4722;gnomADv4_1_AN_joint=131978;gnomADv4_1_AN_joint_XX=69064;gnomADv4_1_AN_joint_XY=62914;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7494;gnomADv4_1_nhomalt_joint_XX=3893;gnomADv4_1_nhomalt_joint_XY=3601;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27421899 chr22_27421899_T_C T C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.06;CADD_Rawscore=-0.002771;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs55995236|2186|-1||||5||||||||Ensembl||T|T||||chr22:g.27421899T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs55995236|1197|-1||||||||||||Ensembl||T|T||||chr22:g.27421899T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=5496;gnomADv4_1_AC_joint_XX=2734;gnomADv4_1_AC_joint_XY=2762;gnomADv4_1_AF_grpmax_joint=0.24885;gnomADv4_1_AF_joint=0.0405507;gnomADv4_1_AF_joint_XX=0.0392737;gnomADv4_1_AF_joint_XY=0.0418993;gnomADv4_1_AN_grpmax_joint=4782;gnomADv4_1_AN_joint=135534;gnomADv4_1_AN_joint_XX=69614;gnomADv4_1_AN_joint_XY=65920;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=218;gnomADv4_1_nhomalt_joint_XX=92;gnomADv4_1_nhomalt_joint_XY=126;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27421967 chr22_27421967_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.569;CADD_Rawscore=0.099932;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs73427534|2254|-1||||5||||||||Ensembl||C|C||||chr22:g.27421967C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs73427534|1265|-1||||||||||||Ensembl||C|C||||chr22:g.27421967C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=25637;gnomADv4_1_AC_joint_XX=13161;gnomADv4_1_AC_joint_XY=12476;gnomADv4_1_AF_grpmax_joint=0.271814;gnomADv4_1_AF_joint=0.170493;gnomADv4_1_AF_joint_XX=0.170749;gnomADv4_1_AF_joint_XY=0.170223;gnomADv4_1_AN_grpmax_joint=40708;gnomADv4_1_AN_joint=150370;gnomADv4_1_AN_joint_XX=77078;gnomADv4_1_AN_joint_XY=73292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2554;gnomADv4_1_nhomalt_joint_XX=1263;gnomADv4_1_nhomalt_joint_XY=1291;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27422274 chr22_27422274_C_A C A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.057;CADD_Rawscore=-0.762587;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs5752542|2561|-1||||5||||||||Ensembl||C|C||||chr22:g.27422274C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs5752542|1572|-1||||||||||||Ensembl||C|C||||chr22:g.27422274C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=85690;gnomADv4_1_AC_joint_XX=43919;gnomADv4_1_AC_joint_XY=41771;gnomADv4_1_AF_grpmax_joint=0.739652;gnomADv4_1_AF_joint=0.563869;gnomADv4_1_AF_joint_XX=0.56518;gnomADv4_1_AF_joint_XY=0.562497;gnomADv4_1_AN_grpmax_joint=41456;gnomADv4_1_AN_joint=151968;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25272;gnomADv4_1_nhomalt_joint_XX=12972;gnomADv4_1_nhomalt_joint_XY=12300;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27422421 chr22_27422421_T_C T C 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADD_PHREDscore=0.618;CADD_Rawscore=-0.140378;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs368968631|2708|-1||||5||||||||Ensembl||T|T||||chr22:g.27422421T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs368968631|1719|-1||||||||||||Ensembl||T|T||||chr22:g.27422421T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=197;gnomADv4_1_AC_joint_XX=89;gnomADv4_1_AC_joint_XY=108;gnomADv4_1_AF_grpmax_joint=0.00724638;gnomADv4_1_AF_joint=0.00129289;gnomADv4_1_AF_joint_XX=0.00114322;gnomADv4_1_AF_joint_XY=0.00144924;gnomADv4_1_AN_grpmax_joint=4830;gnomADv4_1_AN_joint=152372;gnomADv4_1_AN_joint_XX=77850;gnomADv4_1_AN_joint_XY=74522;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5;gnomADv4_1_nhomalt_joint_XX=2;gnomADv4_1_nhomalt_joint_XY=3;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27422467 chr22_27422467_T_C T C 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.334;CADD_Rawscore=0.3057;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs1159794|2754|-1||||5||||||||Ensembl||T|T||||chr22:g.27422467T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs1159794|1765|-1||||||||||||Ensembl||T|T||||chr22:g.27422467T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=85764;gnomADv4_1_AC_joint_XX=43950;gnomADv4_1_AC_joint_XY=41814;gnomADv4_1_AF_grpmax_joint=0.739574;gnomADv4_1_AF_joint=0.564207;gnomADv4_1_AF_joint_XX=0.565579;gnomADv4_1_AF_joint_XY=0.562773;gnomADv4_1_AN_grpmax_joint=41436;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25302;gnomADv4_1_nhomalt_joint_XX=12981;gnomADv4_1_nhomalt_joint_XY=12321;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27422635 chr22_27422635_C_T C T 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.534;CADD_Rawscore=-0.176487;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs1159795|2922|-1||||5||||||||Ensembl||C|C||||chr22:g.27422635C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs1159795|1933|-1||||||||||||Ensembl||C|C||||chr22:g.27422635C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=59422;gnomADv4_1_AC_joint_XX=30451;gnomADv4_1_AC_joint_XY=28971;gnomADv4_1_AF_grpmax_joint=0.500965;gnomADv4_1_AF_joint=0.39077;gnomADv4_1_AF_joint_XX=0.391794;gnomADv4_1_AF_joint_XY=0.389699;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11934;gnomADv4_1_nhomalt_joint_XX=6118;gnomADv4_1_nhomalt_joint_XY=5816;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27422739 chr22_27422739_T_C T C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.935;CADD_Rawscore=0.268172;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs6005430|3026|-1||||5||||||||Ensembl||T|T||||chr22:g.27422739T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs6005430|2037|-1||||||||||||Ensembl||T|T||||chr22:g.27422739T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=85887;gnomADv4_1_AC_joint_XX=43984;gnomADv4_1_AC_joint_XY=41903;gnomADv4_1_AF_grpmax_joint=0.739857;gnomADv4_1_AF_joint=0.5646;gnomADv4_1_AF_joint_XX=0.565856;gnomADv4_1_AF_joint_XY=0.563288;gnomADv4_1_AN_grpmax_joint=41508;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25354;gnomADv4_1_nhomalt_joint_XX=13002;gnomADv4_1_nhomalt_joint_XY=12352;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27422805 chr22_27422805_T_G T G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.786;CADD_Rawscore=0.253522;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs5997244|3092|-1||||5||||||||Ensembl||T|T||||chr22:g.27422805T>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs5997244|2103|-1||||||||||||Ensembl||T|T||||chr22:g.27422805T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=86403;gnomADv4_1_AC_joint_XX=44299;gnomADv4_1_AC_joint_XY=42104;gnomADv4_1_AF_grpmax_joint=0.752603;gnomADv4_1_AF_joint=0.568164;gnomADv4_1_AF_joint_XX=0.569953;gnomADv4_1_AF_joint_XY=0.566295;gnomADv4_1_AN_grpmax_joint=41488;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25751;gnomADv4_1_nhomalt_joint_XX=13242;gnomADv4_1_nhomalt_joint_XY=12509;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27423021 chr22_27423021_C_G C G 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.78;CADD_Rawscore=-0.081495;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs6005431|3308|-1||||5||||||||Ensembl||C|C||||chr22:g.27423021C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs6005431|2319|-1||||||||||||Ensembl||C|C||||chr22:g.27423021C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=79947;gnomADv4_1_AC_joint_XX=41061;gnomADv4_1_AC_joint_XY=38886;gnomADv4_1_AF_grpmax_joint=0.722276;gnomADv4_1_AF_joint=0.525801;gnomADv4_1_AF_joint_XX=0.52832;gnomADv4_1_AF_joint_XY=0.523168;gnomADv4_1_AN_grpmax_joint=41462;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22362;gnomADv4_1_nhomalt_joint_XX=11524;gnomADv4_1_nhomalt_joint_XY=10838;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27423289 chr22_27423289_A_G A G 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=4.852;CADD_Rawscore=0.442035;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs13055229|3576|-1||||5||||||||Ensembl||A|A||||chr22:g.27423289A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs13055229|2587|-1||||||||||||Ensembl||A|A||||chr22:g.27423289A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=5613;gnomADv4_1_AC_joint_XX=2777;gnomADv4_1_AC_joint_XY=2836;gnomADv4_1_AF_grpmax_joint=0.232792;gnomADv4_1_AF_joint=0.0368539;gnomADv4_1_AF_joint_XX=0.0356794;gnomADv4_1_AF_joint_XY=0.0380814;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152304;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=218;gnomADv4_1_nhomalt_joint_XX=94;gnomADv4_1_nhomalt_joint_XY=124;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27423421 chr22_27423421_G_A G A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.006;CADD_Rawscore=0.164752;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs5762135|3708|-1||||5||||||||Ensembl||G|G||||chr22:g.27423421G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs5762135|2719|-1||||||||||||Ensembl||G|G||||chr22:g.27423421G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=65126;gnomADv4_1_AC_joint_XX=33362;gnomADv4_1_AC_joint_XY=31764;gnomADv4_1_AF_grpmax_joint=0.52018;gnomADv4_1_AF_joint=0.44886;gnomADv4_1_AF_joint_XX=0.446422;gnomADv4_1_AF_joint_XY=0.45145;gnomADv4_1_AN_grpmax_joint=66946;gnomADv4_1_AN_joint=145092;gnomADv4_1_AN_joint_XX=74732;gnomADv4_1_AN_joint_XY=70360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15336;gnomADv4_1_nhomalt_joint_XX=7817;gnomADv4_1_nhomalt_joint_XY=7519;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27423443 chr22_27423443_TAAAA_T TAAAA T 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.816;CADDIndel_Rawscore=-0.069994;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs201515426|3731|-1||||5||||||||Ensembl||AAAA|AAAA||||chr22:g.27423457_27423460del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs201515426|2742|-1||||||||||||Ensembl||AAAA|AAAA||||chr22:g.27423457_27423460del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=60502;gnomADv4_1_AC_joint_XX=31284;gnomADv4_1_AC_joint_XY=29218;gnomADv4_1_AF_grpmax_joint=0.515309;gnomADv4_1_AF_joint=0.444979;gnomADv4_1_AF_joint_XX=0.442865;gnomADv4_1_AF_joint_XY=0.447264;gnomADv4_1_AN_grpmax_joint=64082;gnomADv4_1_AN_joint=135966;gnomADv4_1_AN_joint_XX=70640;gnomADv4_1_AN_joint_XY=65326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13414;gnomADv4_1_nhomalt_joint_XX=6901;gnomADv4_1_nhomalt_joint_XY=6513;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27423812 chr22_27423812_T_TCA;chr22_27423812_T_TCACACACACA;chr22_27423812_T_TCACACACACACA;chr22_27423812_T_TCACACACACACACA T TCA 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=34;CADDIndel_PHREDscore=0.985;CADDIndel_Rawscore=-0.021722;CSQ=CA|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs10633766|4099|-1||||5||||||||Ensembl|||||||chr22:g.27423841_27423842dup|||||||||||||,CA|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs10633766|3110|-1||||||||||||Ensembl|||||||chr22:g.27423841_27423842dup|||||||||||||;TYPE=INDEL;VEP_Allele=CA,CA;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=10933;gnomADv4_1_AC_joint_XX=5671;gnomADv4_1_AC_joint_XY=5262;gnomADv4_1_AF_grpmax_joint=0.1666;gnomADv4_1_AF_joint=0.0742943;gnomADv4_1_AF_joint_XX=0.074764;gnomADv4_1_AF_joint_XY=0.0737946;gnomADv4_1_AN_grpmax_joint=40120;gnomADv4_1_AN_joint=147158;gnomADv4_1_AN_joint_XX=75852;gnomADv4_1_AN_joint_XY=71306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=651;gnomADv4_1_nhomalt_joint_XX=331;gnomADv4_1_nhomalt_joint_XY=320;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27423812 chr22_27423812_T_TCA;chr22_27423812_T_TCACACACACA;chr22_27423812_T_TCACACACACACA;chr22_27423812_T_TCACACACACACACA T TCACACACACA 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=30;CADDIndel_PHREDscore=0.908;CADDIndel_Rawscore=-0.042803;CSQ=CACACACACA|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs10633766|4099|-1||||5||||||||Ensembl|||||||chr22:g.27423833_27423842dup|||||||||||||,CACACACACA|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs10633766|3110|-1||||||||||||Ensembl|||||||chr22:g.27423833_27423842dup|||||||||||||;TYPE=INDEL;VEP_Allele=CACACACACA,CACACACACA;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=8467;gnomADv4_1_AC_joint_XX=4340;gnomADv4_1_AC_joint_XY=4127;gnomADv4_1_AF_grpmax_joint=0.247164;gnomADv4_1_AF_joint=0.0575024;gnomADv4_1_AF_joint_XX=0.0572076;gnomADv4_1_AF_joint_XY=0.0578157;gnomADv4_1_AN_grpmax_joint=4936;gnomADv4_1_AN_joint=147246;gnomADv4_1_AN_joint_XX=75864;gnomADv4_1_AN_joint_XY=71382;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=402;gnomADv4_1_nhomalt_joint_XX=192;gnomADv4_1_nhomalt_joint_XY=210;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27423812 chr22_27423812_T_TCA;chr22_27423812_T_TCACACACACA;chr22_27423812_T_TCACACACACACA;chr22_27423812_T_TCACACACACACACA T TCACACACACACA 34 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=14;CADDIndel_PHREDscore=0.886;CADDIndel_Rawscore=-0.048966;CSQ=CACACACACACA|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs10633766|4099|-1||||5||||||||Ensembl|||||||chr22:g.27423831_27423842dup|||||||||||||,CACACACACACA|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs10633766|3110|-1||||||||||||Ensembl|||||||chr22:g.27423831_27423842dup|||||||||||||;TYPE=INDEL;VEP_Allele=CACACACACACA,CACACACACACA;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=5012;gnomADv4_1_AC_joint_XX=2382;gnomADv4_1_AC_joint_XY=2630;gnomADv4_1_AF_grpmax_joint=0.0728889;gnomADv4_1_AF_joint=0.0340707;gnomADv4_1_AF_joint_XX=0.0314265;gnomADv4_1_AF_joint_XY=0.0368812;gnomADv4_1_AN_grpmax_joint=4500;gnomADv4_1_AN_joint=147106;gnomADv4_1_AN_joint_XX=75796;gnomADv4_1_AN_joint_XY=71310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=117;gnomADv4_1_nhomalt_joint_XX=43;gnomADv4_1_nhomalt_joint_XY=74;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27423812 chr22_27423812_T_TCA;chr22_27423812_T_TCACACACACA;chr22_27423812_T_TCACACACACACA;chr22_27423812_T_TCACACACACACACA T TCACACACACACACA 34 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=14;CADDIndel_PHREDscore=0.854;CADDIndel_Rawscore=-0.058401;CSQ=CACACACACACACA|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs10633766|4099|-1||||5||||||||Ensembl|||||||chr22:g.27423829_27423842dup|||||||||||||,CACACACACACACA|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs10633766|3110|-1||||||||||||Ensembl|||||||chr22:g.27423829_27423842dup|||||||||||||;TYPE=INDEL;VEP_Allele=CACACACACACACA,CACACACACACACA;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=46609;gnomADv4_1_AC_joint_XX=24146;gnomADv4_1_AC_joint_XY=22463;gnomADv4_1_AF_grpmax_joint=0.404016;gnomADv4_1_AF_joint=0.317223;gnomADv4_1_AF_joint_XX=0.318692;gnomADv4_1_AF_joint_XY=0.31566;gnomADv4_1_AN_grpmax_joint=66636;gnomADv4_1_AN_joint=146928;gnomADv4_1_AN_joint_XX=75766;gnomADv4_1_AN_joint_XY=71162;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8233;gnomADv4_1_nhomalt_joint_XX=4247;gnomADv4_1_nhomalt_joint_XY=3986;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27423973 chr22_27423973_T_C T C 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=16.73;CADD_Rawscore=1.99464;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs1926257460|4260|-1||||5||||||||Ensembl||T|T||||chr22:g.27423973T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs1926257460|3271|-1||||||||||||Ensembl||T|T||||chr22:g.27423973T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=1;gnomADv4_1_AC_joint_XX=0;gnomADv4_1_AC_joint_XY=1;gnomADv4_1_AF_joint=6.5678e-06;gnomADv4_1_AF_joint_XX=0.0;gnomADv4_1_AF_joint_XY=1.34427e-05;gnomADv4_1_AN_joint=152258;gnomADv4_1_AN_joint_XX=77868;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27424087 chr22_27424087_G_A G A 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=8.917;CADD_Rawscore=0.865393;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs66658246|4374|-1||||5||||||||Ensembl||G|G||||chr22:g.27424087G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs66658246|3385|-1||||||||||||Ensembl||G|G||||chr22:g.27424087G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=5614;gnomADv4_1_AC_joint_XX=2778;gnomADv4_1_AC_joint_XY=2836;gnomADv4_1_AF_grpmax_joint=0.231977;gnomADv4_1_AF_joint=0.0368673;gnomADv4_1_AF_joint_XX=0.0356968;gnomADv4_1_AF_joint_XY=0.0380906;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152276;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=220;gnomADv4_1_nhomalt_joint_XX=94;gnomADv4_1_nhomalt_joint_XY=126;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27424195 chr22_27424195_T_C T C 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.357;CADD_Rawscore=-0.278153;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000623572|lncRNA||||||||||rs56035550|4482|-1||||5||||||||Ensembl||T|T||||chr22:g.27424195T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs56035550|3493|-1||||||||||||Ensembl||T|T||||chr22:g.27424195T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000623572,ENST00000729519;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000280445,ENSG00000280445;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=9567;gnomADv4_1_AC_joint_XX=4705;gnomADv4_1_AC_joint_XY=4862;gnomADv4_1_AF_grpmax_joint=0.374807;gnomADv4_1_AF_joint=0.0628366;gnomADv4_1_AF_joint_XX=0.0604694;gnomADv4_1_AF_joint_XY=0.0653108;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152252;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=569;gnomADv4_1_nhomalt_joint_XX=268;gnomADv4_1_nhomalt_joint_XY=301;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27424790 chr22_27424790_T_C T C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.358;CADD_Rawscore=0.489783;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000280445|Transcript|ENST00000729519|lncRNA||||||||||rs4140448|4088|-1||||||||||||Ensembl||T|T||||chr22:g.27424790T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000729519;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000280445;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=63823;gnomADv4_1_AC_joint_XX=32919;gnomADv4_1_AC_joint_XY=30904;gnomADv4_1_AF_grpmax_joint=0.515817;gnomADv4_1_AF_joint=0.420176;gnomADv4_1_AF_joint_XX=0.423788;gnomADv4_1_AF_joint_XY=0.416395;gnomADv4_1_AN_grpmax_joint=67900;gnomADv4_1_AN_joint=151896;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14571;gnomADv4_1_nhomalt_joint_XX=7518;gnomADv4_1_nhomalt_joint_XY=7053;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27426051 chr22_27426051_CAA_C;chr22_27426051_CA_C CAA C 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=1.404;CADDIndel_Rawscore=0.070748;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs11295518|||||||||||||||||||||chr22:g.27426068_27426069del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33883;gnomADv4_1_AC_joint_XX=17803;gnomADv4_1_AC_joint_XY=16080;gnomADv4_1_AF_grpmax_joint=0.323869;gnomADv4_1_AF_joint=0.27045;gnomADv4_1_AF_joint_XX=0.27176;gnomADv4_1_AF_joint_XY=0.269013;gnomADv4_1_AN_grpmax_joint=59274;gnomADv4_1_AN_joint=125284;gnomADv4_1_AN_joint_XX=65510;gnomADv4_1_AN_joint_XY=59774;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3769;gnomADv4_1_nhomalt_joint_XX=1957;gnomADv4_1_nhomalt_joint_XY=1812;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27426051 chr22_27426051_CAA_C;chr22_27426051_CA_C CA C 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=0.315;CADDIndel_Rawscore=-0.309313;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs11295518|||||||||||||||||||||chr22:g.27426069del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=67454;gnomADv4_1_AC_joint_XX=35132;gnomADv4_1_AC_joint_XY=32322;gnomADv4_1_AF_grpmax_joint=0.733028;gnomADv4_1_AF_joint=0.539883;gnomADv4_1_AF_joint_XX=0.538009;gnomADv4_1_AF_joint_XY=0.541934;gnomADv4_1_AN_grpmax_joint=4154;gnomADv4_1_AN_joint=124942;gnomADv4_1_AN_joint_XX=65300;gnomADv4_1_AN_joint_XY=59642;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16115;gnomADv4_1_nhomalt_joint_XX=8312;gnomADv4_1_nhomalt_joint_XY=7803;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27426082 chr22_27426082_G_A G A 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=3.532;CADD_Rawscore=0.323562;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs12627850|||||||||||||||||||||chr22:g.27426082G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37891;gnomADv4_1_AC_joint_XX=19572;gnomADv4_1_AC_joint_XY=18319;gnomADv4_1_AF_grpmax_joint=0.315214;gnomADv4_1_AF_joint=0.250877;gnomADv4_1_AF_joint_XX=0.252731;gnomADv4_1_AF_joint_XY=0.248927;gnomADv4_1_AN_grpmax_joint=67884;gnomADv4_1_AN_joint=151034;gnomADv4_1_AN_joint_XX=77442;gnomADv4_1_AN_joint_XY=73592;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5262;gnomADv4_1_nhomalt_joint_XX=2704;gnomADv4_1_nhomalt_joint_XY=2558;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27426098 chr22_27426098_A_C A C 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.808;CADD_Rawscore=-0.072613;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4822876|||||||||||||||||||||chr22:g.27426098A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=124825;gnomADv4_1_AC_joint_XX=63957;gnomADv4_1_AC_joint_XY=60868;gnomADv4_1_AF_grpmax_joint=0.935358;gnomADv4_1_AF_joint=0.825857;gnomADv4_1_AF_joint_XX=0.825912;gnomADv4_1_AF_joint_XY=0.825799;gnomADv4_1_AN_grpmax_joint=5136;gnomADv4_1_AN_joint=151146;gnomADv4_1_AN_joint_XX=77438;gnomADv4_1_AN_joint_XY=73708;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=51958;gnomADv4_1_nhomalt_joint_XX=26574;gnomADv4_1_nhomalt_joint_XY=25384;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27426270 chr22_27426270_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.628;CADD_Rawscore=0.332191;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs4822877|||||||||||||||||||||chr22:g.27426270C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=98800;gnomADv4_1_AC_joint_XX=50654;gnomADv4_1_AC_joint_XY=48146;gnomADv4_1_AF_grpmax_joint=0.841199;gnomADv4_1_AF_joint=0.650282;gnomADv4_1_AF_joint_XX=0.652388;gnomADv4_1_AF_joint_XY=0.648082;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=151934;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32305;gnomADv4_1_nhomalt_joint_XX=16557;gnomADv4_1_nhomalt_joint_XY=15748;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27426601 chr22_27426601_A_G A G 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.776;CADD_Rawscore=-0.082793;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5762138|||||||||||||||||||||chr22:g.27426601A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=5900;gnomADv4_1_AC_joint_XX=2924;gnomADv4_1_AC_joint_XY=2976;gnomADv4_1_AF_grpmax_joint=0.235067;gnomADv4_1_AF_joint=0.0387195;gnomADv4_1_AF_joint_XX=0.0375527;gnomADv4_1_AF_joint_XY=0.0399388;gnomADv4_1_AN_grpmax_joint=5190;gnomADv4_1_AN_joint=152378;gnomADv4_1_AN_joint_XX=77864;gnomADv4_1_AN_joint_XY=74514;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=226;gnomADv4_1_nhomalt_joint_XX=97;gnomADv4_1_nhomalt_joint_XY=129;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27426622 chr22_27426622_G_A G A 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=3.302;CADD_Rawscore=0.302714;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5752544|||||||||||||||||||||chr22:g.27426622G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=125851;gnomADv4_1_AC_joint_XX=64301;gnomADv4_1_AC_joint_XY=61550;gnomADv4_1_AF_grpmax_joint=0.935042;gnomADv4_1_AF_joint=0.826477;gnomADv4_1_AF_joint_XX=0.8263;gnomADv4_1_AF_joint_XY=0.826663;gnomADv4_1_AN_grpmax_joint=5188;gnomADv4_1_AN_joint=152274;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=52410;gnomADv4_1_nhomalt_joint_XX=26725;gnomADv4_1_nhomalt_joint_XY=25685;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27426709 chr22_27426709_TA_T TA T 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.481;CADDIndel_Rawscore=-0.202891;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs34125528|||||||||||||||||||||chr22:g.27426710del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36093;gnomADv4_1_AC_joint_XX=18735;gnomADv4_1_AC_joint_XY=17358;gnomADv4_1_AF_grpmax_joint=0.307777;gnomADv4_1_AF_joint=0.237282;gnomADv4_1_AF_joint_XX=0.240896;gnomADv4_1_AF_joint_XY=0.233501;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4815;gnomADv4_1_nhomalt_joint_XX=2501;gnomADv4_1_nhomalt_joint_XY=2314;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27426936 chr22_27426936_C_T C T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.368;CADD_Rawscore=-0.269935;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762139|||||||||||||||||||||chr22:g.27426936C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=129732;gnomADv4_1_AC_joint_XX=66384;gnomADv4_1_AC_joint_XY=63348;gnomADv4_1_AF_grpmax_joint=0.935228;gnomADv4_1_AF_joint=0.852434;gnomADv4_1_AF_joint_XX=0.853287;gnomADv4_1_AF_joint_XY=0.851543;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152190;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=55408;gnomADv4_1_nhomalt_joint_XX=28342;gnomADv4_1_nhomalt_joint_XY=27066;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27427254 chr22_27427254_A_G A G 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.257;CADD_Rawscore=-0.36165;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs1884129|||||||||||||||||||||chr22:g.27427254A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=128859;gnomADv4_1_AC_joint_XX=65892;gnomADv4_1_AC_joint_XY=62967;gnomADv4_1_AF_grpmax_joint=0.935615;gnomADv4_1_AF_joint=0.846643;gnomADv4_1_AF_joint_XX=0.847137;gnomADv4_1_AF_joint_XY=0.846126;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152200;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=54736;gnomADv4_1_nhomalt_joint_XX=27972;gnomADv4_1_nhomalt_joint_XY=26764;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27427372 chr22_27427372_G_C G C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=6.477;CADD_Rawscore=0.60232;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762140|||||||||||||||||||||chr22:g.27427372G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=69250;gnomADv4_1_AC_joint_XX=35387;gnomADv4_1_AC_joint_XY=33863;gnomADv4_1_AF_grpmax_joint=0.566984;gnomADv4_1_AF_joint=0.455436;gnomADv4_1_AF_joint_XX=0.455197;gnomADv4_1_AF_joint_XY=0.455687;gnomADv4_1_AN_grpmax_joint=67986;gnomADv4_1_AN_joint=152052;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=17417;gnomADv4_1_nhomalt_joint_XX=8894;gnomADv4_1_nhomalt_joint_XY=8523;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27427407 chr22_27427407_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.092;CADD_Rawscore=-0.63297;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs1884128|||||||||||||||||||||chr22:g.27427407A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=130436;gnomADv4_1_AC_joint_XX=66783;gnomADv4_1_AC_joint_XY=63653;gnomADv4_1_AF_grpmax_joint=0.934917;gnomADv4_1_AF_joint=0.857117;gnomADv4_1_AF_joint_XX=0.858636;gnomADv4_1_AF_joint_XY=0.855528;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56020;gnomADv4_1_nhomalt_joint_XX=28695;gnomADv4_1_nhomalt_joint_XY=27325;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27427486 chr22_27427486_C_T C T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.011;CADD_Rawscore=-1.23287;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs1884127|||||||||||||||||||||chr22:g.27427486C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=130234;gnomADv4_1_AC_joint_XX=66705;gnomADv4_1_AC_joint_XY=63529;gnomADv4_1_AF_grpmax_joint=0.934724;gnomADv4_1_AF_joint=0.856487;gnomADv4_1_AF_joint_XX=0.85803;gnomADv4_1_AF_joint_XY=0.854873;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=55886;gnomADv4_1_nhomalt_joint_XX=28638;gnomADv4_1_nhomalt_joint_XY=27248;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27427695 chr22_27427695_G_GTC G GTC 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.249;CADDIndel_Rawscore=-0.369592;CSQ=TC|intergenic_variant|MODIFIER|||||||||||||||rs5844761|||||||||||||||||||||chr22:g.27427715_27427716dup|||||||||||||;TYPE=INDEL;VEP_Allele=TC;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=109507;gnomADv4_1_AC_joint_XX=56253;gnomADv4_1_AC_joint_XY=53254;gnomADv4_1_AF_grpmax_joint=0.812539;gnomADv4_1_AF_joint=0.736538;gnomADv4_1_AF_joint_XX=0.737126;gnomADv4_1_AF_joint_XY=0.735918;gnomADv4_1_AN_grpmax_joint=66990;gnomADv4_1_AN_joint=148678;gnomADv4_1_AN_joint_XX=76314;gnomADv4_1_AN_joint_XY=72364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=41030;gnomADv4_1_nhomalt_joint_XX=21074;gnomADv4_1_nhomalt_joint_XY=19956;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27427830 chr22_27427830_G_C G C 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=3.342;CADD_Rawscore=0.306372;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs2342941|||||||||||||||||||||chr22:g.27427830G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=5898;gnomADv4_1_AC_joint_XX=2931;gnomADv4_1_AC_joint_XY=2967;gnomADv4_1_AF_grpmax_joint=0.217602;gnomADv4_1_AF_joint=0.0387369;gnomADv4_1_AF_joint_XX=0.0376658;gnomADv4_1_AF_joint_XY=0.0398565;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152258;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=202;gnomADv4_1_nhomalt_joint_XX=86;gnomADv4_1_nhomalt_joint_XY=116;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27427862 chr22_27427862_C_T C T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.615;CADD_Rawscore=-0.141269;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs73158471|||||||||||||||||||||chr22:g.27427862C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=29671;gnomADv4_1_AC_joint_XX=15308;gnomADv4_1_AC_joint_XY=14363;gnomADv4_1_AF_grpmax_joint=0.260356;gnomADv4_1_AF_joint=0.19497;gnomADv4_1_AF_joint_XX=0.196817;gnomADv4_1_AF_joint_XY=0.193041;gnomADv4_1_AN_grpmax_joint=67980;gnomADv4_1_AN_joint=152182;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3409;gnomADv4_1_nhomalt_joint_XX=1747;gnomADv4_1_nhomalt_joint_XY=1662;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27428102 chr22_27428102_T_C T C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.419;CADD_Rawscore=-0.237627;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762141|||||||||||||||||||||chr22:g.27428102T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43318;gnomADv4_1_AC_joint_XX=22024;gnomADv4_1_AC_joint_XY=21294;gnomADv4_1_AF_grpmax_joint=0.388524;gnomADv4_1_AF_joint=0.284642;gnomADv4_1_AF_joint_XX=0.283129;gnomADv4_1_AF_joint_XY=0.286225;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152184;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6255;gnomADv4_1_nhomalt_joint_XX=3172;gnomADv4_1_nhomalt_joint_XY=3083;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27428355 chr22_27428355_C_T C T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=6.924;CADD_Rawscore=0.64986;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs7288389|||||||||||||||||||||chr22:g.27428355C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=105421;gnomADv4_1_AC_joint_XX=54149;gnomADv4_1_AC_joint_XY=51272;gnomADv4_1_AF_grpmax_joint=0.829343;gnomADv4_1_AF_joint=0.692803;gnomADv4_1_AF_joint_XX=0.696199;gnomADv4_1_AF_joint_XY=0.689251;gnomADv4_1_AN_grpmax_joint=67990;gnomADv4_1_AN_joint=152166;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=38637;gnomADv4_1_nhomalt_joint_XX=19929;gnomADv4_1_nhomalt_joint_XY=18708;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27428512 chr22_27428512_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.627;CADD_Rawscore=-0.136456;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs56109094|||||||||||||||||||||chr22:g.27428512C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=60549;gnomADv4_1_AC_joint_XX=30778;gnomADv4_1_AC_joint_XY=29771;gnomADv4_1_AF_grpmax_joint=0.485321;gnomADv4_1_AF_joint=0.397888;gnomADv4_1_AF_joint_XX=0.395726;gnomADv4_1_AF_joint_XY=0.400148;gnomADv4_1_AN_grpmax_joint=67988;gnomADv4_1_AN_joint=152176;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13257;gnomADv4_1_nhomalt_joint_XX=6718;gnomADv4_1_nhomalt_joint_XY=6539;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27428639 chr22_27428639_G_C G C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.124;CADD_Rawscore=-0.552934;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5997246|||||||||||||||||||||chr22:g.27428639G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=100858;gnomADv4_1_AC_joint_XX=51472;gnomADv4_1_AC_joint_XY=49386;gnomADv4_1_AF_grpmax_joint=0.720045;gnomADv4_1_AF_joint=0.662842;gnomADv4_1_AF_joint_XX=0.661917;gnomADv4_1_AF_joint_XY=0.663808;gnomADv4_1_AN_grpmax_joint=67986;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=34040;gnomADv4_1_nhomalt_joint_XX=17326;gnomADv4_1_nhomalt_joint_XY=16714;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27429573 chr22_27429573_A_T A T 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.305;CADD_Rawscore=-0.318174;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs761593|||||||||||||||||||||chr22:g.27429573A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=151886;gnomADv4_1_AC_joint_XX=77618;gnomADv4_1_AC_joint_XY=74268;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.997138;gnomADv4_1_AF_joint_XX=0.997174;gnomADv4_1_AF_joint_XY=0.9971;gnomADv4_1_AN_grpmax_joint=68042;gnomADv4_1_AN_joint=152322;gnomADv4_1_AN_joint_XX=77838;gnomADv4_1_AN_joint_XY=74484;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=75728;gnomADv4_1_nhomalt_joint_XX=38701;gnomADv4_1_nhomalt_joint_XY=37027;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27430902 chr22_27430902_TA_T TA T 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=6.164;CADDIndel_Rawscore=0.56989;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs35674826|||||||||||||||||||||chr22:g.27430913del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38468;gnomADv4_1_AC_joint_XX=19403;gnomADv4_1_AC_joint_XY=19065;gnomADv4_1_AF_grpmax_joint=0.295936;gnomADv4_1_AF_joint=0.259152;gnomADv4_1_AF_joint_XX=0.255088;gnomADv4_1_AF_joint_XY=0.263423;gnomADv4_1_AN_grpmax_joint=40654;gnomADv4_1_AN_joint=148438;gnomADv4_1_AN_joint_XX=76064;gnomADv4_1_AN_joint_XY=72374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5007;gnomADv4_1_nhomalt_joint_XX=2457;gnomADv4_1_nhomalt_joint_XY=2550;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27431224 chr22_27431224_C_CG C CG 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.712;CADDIndel_Rawscore=-0.104565;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs143075415|||||||||||||||||||||chr22:g.27431230dup|||||||||||||;TYPE=INDEL;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36077;gnomADv4_1_AC_joint_XX=18606;gnomADv4_1_AC_joint_XY=17471;gnomADv4_1_AF_grpmax_joint=0.270244;gnomADv4_1_AF_joint=0.23795;gnomADv4_1_AF_joint_XX=0.240053;gnomADv4_1_AF_joint_XY=0.235751;gnomADv4_1_AN_grpmax_joint=67824;gnomADv4_1_AN_joint=151616;gnomADv4_1_AN_joint_XX=77508;gnomADv4_1_AN_joint_XY=74108;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4467;gnomADv4_1_nhomalt_joint_XX=2266;gnomADv4_1_nhomalt_joint_XY=2201;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27432673 chr22_27432673_T_C T C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.304;CADD_Rawscore=-0.318633;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs16984616|3619|1||||||||||||Ensembl||T|T||||chr22:g.27432673T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs16984616|3612|1||||||||||||Ensembl||T|T||||chr22:g.27432673T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs16984616|3612|1||||||||||||Ensembl||T|T||||chr22:g.27432673T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs16984616|3619|1||||||||||||Ensembl||T|T||||chr22:g.27432673T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs16984616|3619|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27432673T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=34773;gnomADv4_1_AC_joint_XX=17874;gnomADv4_1_AC_joint_XY=16899;gnomADv4_1_AF_grpmax_joint=0.264199;gnomADv4_1_AF_joint=0.229355;gnomADv4_1_AF_joint_XX=0.230388;gnomADv4_1_AF_joint_XY=0.228272;gnomADv4_1_AN_grpmax_joint=67892;gnomADv4_1_AN_joint=151612;gnomADv4_1_AN_joint_XX=77582;gnomADv4_1_AN_joint_XY=74030;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4181;gnomADv4_1_nhomalt_joint_XX=2118;gnomADv4_1_nhomalt_joint_XY=2063;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27433142 chr22_27433142_T_A T A 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=3.049;CADD_Rawscore=0.279123;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs11703909|3150|1||||||||||||Ensembl||T|T||||chr22:g.27433142T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs11703909|3143|1||||||||||||Ensembl||T|T||||chr22:g.27433142T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs11703909|3143|1||||||||||||Ensembl||T|T||||chr22:g.27433142T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs11703909|3150|1||||||||||||Ensembl||T|T||||chr22:g.27433142T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs11703909|3150|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27433142T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=33999;gnomADv4_1_AC_joint_XX=17444;gnomADv4_1_AC_joint_XY=16555;gnomADv4_1_AF_grpmax_joint=0.260846;gnomADv4_1_AF_joint=0.223404;gnomADv4_1_AF_joint_XX=0.224274;gnomADv4_1_AF_joint_XY=0.222495;gnomADv4_1_AN_grpmax_joint=67998;gnomADv4_1_AN_joint=152186;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4018;gnomADv4_1_nhomalt_joint_XX=2023;gnomADv4_1_nhomalt_joint_XY=1995;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27433575 chr22_27433575_G_A G A 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.365;CADD_Rawscore=-0.272252;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs55942615|2717|1||||||||||||Ensembl||G|G||||chr22:g.27433575G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs55942615|2710|1||||||||||||Ensembl||G|G||||chr22:g.27433575G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs55942615|2710|1||||||||||||Ensembl||G|G||||chr22:g.27433575G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs55942615|2717|1||||||||||||Ensembl||G|G||||chr22:g.27433575G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs55942615|2717|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27433575G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=28060;gnomADv4_1_AC_joint_XX=14361;gnomADv4_1_AC_joint_XY=13699;gnomADv4_1_AF_grpmax_joint=0.247824;gnomADv4_1_AF_joint=0.184355;gnomADv4_1_AF_joint_XX=0.184612;gnomADv4_1_AF_joint_XY=0.184087;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152206;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3037;gnomADv4_1_nhomalt_joint_XX=1541;gnomADv4_1_nhomalt_joint_XY=1496;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27433604 chr22_27433604_A_G A G 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.466;CADD_Rawscore=0.220018;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs5752545|2688|1||||||||||||Ensembl||A|A||||chr22:g.27433604A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs5752545|2681|1||||||||||||Ensembl||A|A||||chr22:g.27433604A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs5752545|2681|1||||||||||||Ensembl||A|A||||chr22:g.27433604A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs5752545|2688|1||||||||||||Ensembl||A|A||||chr22:g.27433604A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs5752545|2688|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27433604A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=80868;gnomADv4_1_AC_joint_XX=41443;gnomADv4_1_AC_joint_XY=39425;gnomADv4_1_AF_grpmax_joint=0.751751;gnomADv4_1_AF_joint=0.531963;gnomADv4_1_AF_joint_XX=0.533331;gnomADv4_1_AF_joint_XY=0.530533;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21826;gnomADv4_1_nhomalt_joint_XX=11220;gnomADv4_1_nhomalt_joint_XY=10606;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27433700 chr22_27433700_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.48;CADD_Rawscore=-0.203111;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs5752546|2592|1||||||||||||Ensembl||T|T||||chr22:g.27433700T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs5752546|2585|1||||||||||||Ensembl||T|T||||chr22:g.27433700T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs5752546|2585|1||||||||||||Ensembl||T|T||||chr22:g.27433700T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs5752546|2592|1||||||||||||Ensembl||T|T||||chr22:g.27433700T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs5752546|2592|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27433700T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=123044;gnomADv4_1_AC_joint_XX=63107;gnomADv4_1_AC_joint_XY=59937;gnomADv4_1_AF_grpmax_joint=0.893757;gnomADv4_1_AF_joint=0.809138;gnomADv4_1_AF_joint_XX=0.811791;gnomADv4_1_AF_joint_XY=0.806364;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=50020;gnomADv4_1_nhomalt_joint_XX=25718;gnomADv4_1_nhomalt_joint_XY=24302;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27434437 chr22_27434437_C_T C T 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.047;CADD_Rawscore=-0.816286;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs35085098|1855|1||||||||||||Ensembl||C|C||||chr22:g.27434437C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs35085098|1848|1||||||||||||Ensembl||C|C||||chr22:g.27434437C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs35085098|1848|1||||||||||||Ensembl||C|C||||chr22:g.27434437C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs35085098|1855|1||||||||||||Ensembl||C|C||||chr22:g.27434437C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs35085098|1855|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27434437C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=2202;gnomADv4_1_AC_joint_XX=1137;gnomADv4_1_AC_joint_XY=1065;gnomADv4_1_AF_grpmax_joint=0.0212572;gnomADv4_1_AF_joint=0.0144593;gnomADv4_1_AF_joint_XX=0.0146099;gnomADv4_1_AF_joint_XY=0.0143018;gnomADv4_1_AN_grpmax_joint=68024;gnomADv4_1_AN_joint=152290;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74466;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25;gnomADv4_1_nhomalt_joint_XX=13;gnomADv4_1_nhomalt_joint_XY=12;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27434618 chr22_27434618_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=4.996;CADD_Rawscore=0.455461;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs6005433|1674|1||||||||||||Ensembl||C|C||||chr22:g.27434618C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs6005433|1667|1||||||||||||Ensembl||C|C||||chr22:g.27434618C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs6005433|1667|1||||||||||||Ensembl||C|C||||chr22:g.27434618C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs6005433|1674|1||||||||||||Ensembl||C|C||||chr22:g.27434618C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs6005433|1674|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27434618C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=37502;gnomADv4_1_AC_joint_XX=19582;gnomADv4_1_AC_joint_XY=17920;gnomADv4_1_AF_grpmax_joint=0.369156;gnomADv4_1_AF_joint=0.246574;gnomADv4_1_AF_joint_XX=0.251891;gnomADv4_1_AF_joint_XY=0.241016;gnomADv4_1_AN_grpmax_joint=41454;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4981;gnomADv4_1_nhomalt_joint_XX=2594;gnomADv4_1_nhomalt_joint_XY=2387;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27434813 chr22_27434813_C_T C T 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=8.081;CADD_Rawscore=0.777735;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs34008220|1479|1||||||||||||Ensembl||C|C||||chr22:g.27434813C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs34008220|1472|1||||||||||||Ensembl||C|C||||chr22:g.27434813C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs34008220|1472|1||||||||||||Ensembl||C|C||||chr22:g.27434813C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs34008220|1479|1||||||||||||Ensembl||C|C||||chr22:g.27434813C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs34008220|1479|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27434813C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=12586;gnomADv4_1_AC_joint_XX=6446;gnomADv4_1_AC_joint_XY=6140;gnomADv4_1_AF_grpmax_joint=0.129252;gnomADv4_1_AF_joint=0.0827286;gnomADv4_1_AF_joint_XX=0.082894;gnomADv4_1_AF_joint_XY=0.0825557;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=512;gnomADv4_1_nhomalt_joint_XX=259;gnomADv4_1_nhomalt_joint_XY=253;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27435381 chr22_27435381_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.437;CADD_Rawscore=-0.22668;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs9306440|911|1||||||||||||Ensembl||G|G||||chr22:g.27435381G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs9306440|904|1||||||||||||Ensembl||G|G||||chr22:g.27435381G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs9306440|904|1||||||||||||Ensembl||G|G||||chr22:g.27435381G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs9306440|911|1||||||||||||Ensembl||G|G||||chr22:g.27435381G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs9306440|911|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27435381G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=135379;gnomADv4_1_AC_joint_XX=68933;gnomADv4_1_AC_joint_XY=66446;gnomADv4_1_AF_grpmax_joint=0.930025;gnomADv4_1_AF_joint=0.8903;gnomADv4_1_AF_joint_XX=0.887123;gnomADv4_1_AF_joint_XY=0.89362;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152060;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=60547;gnomADv4_1_nhomalt_joint_XX=30713;gnomADv4_1_nhomalt_joint_XY=29834;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27435500 chr22_27435500_T_C T C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.556;CADD_Rawscore=-0.166537;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs9306441|792|1||||||||||||Ensembl||T|T||||chr22:g.27435500T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs9306441|785|1||||||||||||Ensembl||T|T||||chr22:g.27435500T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs9306441|785|1||||||||||||Ensembl||T|T||||chr22:g.27435500T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs9306441|792|1||||||||||||Ensembl||T|T||||chr22:g.27435500T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs9306441|792|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27435500T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=112681;gnomADv4_1_AC_joint_XX=57280;gnomADv4_1_AC_joint_XY=55401;gnomADv4_1_AF_grpmax_joint=0.916522;gnomADv4_1_AF_joint=0.741967;gnomADv4_1_AF_joint_XX=0.73765;gnomADv4_1_AF_joint_XY=0.746483;gnomADv4_1_AN_grpmax_joint=67958;gnomADv4_1_AN_joint=151868;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74216;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=46675;gnomADv4_1_nhomalt_joint_XX=23652;gnomADv4_1_nhomalt_joint_XY=23023;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27435516 chr22_27435516_ACTCT_A ACTCT A 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=1.122;CADDIndel_Rawscore=0.011996;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs150527411|772|1||||||||||||Ensembl||CTCT|CTCT||||chr22:g.27435523_27435526del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs150527411|765|1||||||||||||Ensembl||CTCT|CTCT||||chr22:g.27435523_27435526del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs150527411|765|1||||||||||||Ensembl||CTCT|CTCT||||chr22:g.27435523_27435526del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs150527411|772|1||||||||||||Ensembl||CTCT|CTCT||||chr22:g.27435523_27435526del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs150527411|772|1||EntrezGene||||||||||RefSeq||CTCT|CTCT||||chr22:g.27435523_27435526del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=2421;gnomADv4_1_AC_joint_XX=1290;gnomADv4_1_AC_joint_XY=1131;gnomADv4_1_AF_grpmax_joint=0.0240894;gnomADv4_1_AF_joint=0.016159;gnomADv4_1_AF_joint_XX=0.0168087;gnomADv4_1_AF_joint_XY=0.0154766;gnomADv4_1_AN_grpmax_joint=67374;gnomADv4_1_AN_joint=149824;gnomADv4_1_AN_joint_XX=76746;gnomADv4_1_AN_joint_XY=73078;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=32;gnomADv4_1_nhomalt_joint_XX=19;gnomADv4_1_nhomalt_joint_XY=13;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27435689 chr22_27435689_A_G A G 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.058;CADD_Rawscore=-0.760244;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs1884134|603|1||||||||||||Ensembl||A|A||||chr22:g.27435689A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs1884134|596|1||||||||||||Ensembl||A|A||||chr22:g.27435689A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs1884134|596|1||||||||||||Ensembl||A|A||||chr22:g.27435689A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs1884134|603|1||||||||||||Ensembl||A|A||||chr22:g.27435689A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs1884134|603|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27435689A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=55870;gnomADv4_1_AC_joint_XX=28333;gnomADv4_1_AC_joint_XY=27537;gnomADv4_1_AF_grpmax_joint=0.609675;gnomADv4_1_AF_joint=0.368696;gnomADv4_1_AF_joint_XX=0.365464;gnomADv4_1_AF_joint_XY=0.372081;gnomADv4_1_AN_grpmax_joint=5106;gnomADv4_1_AN_joint=151534;gnomADv4_1_AN_joint_XX=77526;gnomADv4_1_AN_joint_XY=74008;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10536;gnomADv4_1_nhomalt_joint_XX=5267;gnomADv4_1_nhomalt_joint_XY=5269;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27436184 chr22_27436184_C_CA C CA 21 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=21;CADDIndel_PHREDscore=7.612;CADDIndel_Rawscore=0.725489;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs74429450|107|1||||||||||||Ensembl|||||||chr22:g.27436206dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs74429450|100|1||||||||||||Ensembl|||||||chr22:g.27436206dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs74429450|100|1||||||||||||Ensembl|||||||chr22:g.27436206dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs74429450|107|1||||||||||||Ensembl|||||||chr22:g.27436206dup|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs74429450|107|1||EntrezGene||||||||||RefSeq|||||||chr22:g.27436206dup|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DW2N|promoter||||||||||rs74429450|||||||||||||||||||||chr22:g.27436206dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4,ENSR22_9DW2N;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980,.;VEP_SYMBOL=.,.,.,.,LOC105372980,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=17255;gnomADv4_1_AC_joint_XX=9036;gnomADv4_1_AC_joint_XY=8219;gnomADv4_1_AF_grpmax_joint=0.286929;gnomADv4_1_AF_joint=0.158039;gnomADv4_1_AF_joint_XX=0.154933;gnomADv4_1_AF_joint_XY=0.1616;gnomADv4_1_AN_grpmax_joint=3764;gnomADv4_1_AN_joint=109182;gnomADv4_1_AN_joint_XX=58322;gnomADv4_1_AN_joint_XY=50860;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1569;gnomADv4_1_nhomalt_joint_XX=768;gnomADv4_1_nhomalt_joint_XY=801;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27437024 chr22_27437024_C_G C G 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.299;CADD_Rawscore=-0.322917;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||1/2|ENST00000654206.2:n.160+573C>G|||||||rs16984654||1||||||||||||Ensembl||C|C||||chr22:g.27437024C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||1/1|ENST00000783233.1:n.168-164C>G|||||||rs16984654||1||||||||||||Ensembl||C|C||||chr22:g.27437024C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||1/1|ENST00000783234.1:n.168-74C>G|||||||rs16984654||1||||||||||||Ensembl||C|C||||chr22:g.27437024C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||1/1|ENST00000783235.1:n.161-32C>G|||||||rs16984654||1||||||||||||Ensembl||C|C||||chr22:g.27437024C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||1/2|XR_938123.4:n.160+573C>G|||||||rs16984654||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27437024C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=35346;gnomADv4_1_AC_joint_XX=18177;gnomADv4_1_AC_joint_XY=17169;gnomADv4_1_AF_grpmax_joint=0.346939;gnomADv4_1_AF_joint=0.232399;gnomADv4_1_AF_joint_XX=0.233758;gnomADv4_1_AF_joint_XY=0.230977;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4368;gnomADv4_1_nhomalt_joint_XX=2237;gnomADv4_1_nhomalt_joint_XY=2131;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27437429 chr22_27437429_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.6;CADD_Rawscore=-0.147383;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||1/2|ENST00000654206.2:n.160+978T>C|||||||rs1467433||1||||||||||||Ensembl||T|T||||chr22:g.27437429T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs1467433|114|1||||||||||||Ensembl||T|T||||chr22:g.27437429T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs1467433|123|1||||||||||||Ensembl||T|T||||chr22:g.27437429T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs1467433|123|1||||||||||||Ensembl||T|T||||chr22:g.27437429T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||1/2|XR_938123.4:n.160+978T>C|||||||rs1467433||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27437429T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=142925;gnomADv4_1_AC_joint_XX=73153;gnomADv4_1_AC_joint_XY=69772;gnomADv4_1_AF_grpmax_joint=0.998207;gnomADv4_1_AF_joint=0.939172;gnomADv4_1_AF_joint_XX=0.940415;gnomADv4_1_AF_joint_XY=0.937871;gnomADv4_1_AN_grpmax_joint=68032;gnomADv4_1_AN_joint=152182;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=67555;gnomADv4_1_nhomalt_joint_XX=34644;gnomADv4_1_nhomalt_joint_XY=32911;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27437764 chr22_27437764_A_T A T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.105;CADD_Rawscore=-0.598262;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||1/2|ENST00000654206.2:n.160+1313A>T|||||||rs1467432||1||||||||||||Ensembl||A|A||||chr22:g.27437764A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs1467432|449|1||||||||||||Ensembl||A|A||||chr22:g.27437764A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs1467432|458|1||||||||||||Ensembl||A|A||||chr22:g.27437764A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs1467432|458|1||||||||||||Ensembl||A|A||||chr22:g.27437764A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||1/2|XR_938123.4:n.160+1313A>T|||||||rs1467432||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27437764A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=145825;gnomADv4_1_AC_joint_XX=74453;gnomADv4_1_AC_joint_XY=71372;gnomADv4_1_AF_grpmax_joint=0.99856;gnomADv4_1_AF_joint=0.957611;gnomADv4_1_AF_joint_XX=0.956832;gnomADv4_1_AF_joint_XY=0.958425;gnomADv4_1_AN_grpmax_joint=68034;gnomADv4_1_AN_joint=152280;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=70126;gnomADv4_1_nhomalt_joint_XX=35792;gnomADv4_1_nhomalt_joint_XY=34334;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27438374 chr22_27438374_A_G A G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=16.4;CADD_Rawscore=1.92553;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||1/2|ENST00000654206.2:n.161-1504A>G|||||||rs882158||1||||||||||||Ensembl||A|A||||chr22:g.27438374A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs882158|1059|1||||||||||||Ensembl||A|A||||chr22:g.27438374A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs882158|1068|1||||||||||||Ensembl||A|A||||chr22:g.27438374A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs882158|1068|1||||||||||||Ensembl||A|A||||chr22:g.27438374A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||1/2|XR_938123.4:n.161-1504A>G|||||||rs882158||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27438374A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7G2N|enhancer||||||||||rs882158|||||||||||||||||||||chr22:g.27438374A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4,ENSR22_B7G2N;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980,.;VEP_SYMBOL=.,.,.,.,LOC105372980,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=52949;gnomADv4_1_AC_joint_XX=27048;gnomADv4_1_AC_joint_XY=25901;gnomADv4_1_AF_grpmax_joint=0.435496;gnomADv4_1_AF_joint=0.348042;gnomADv4_1_AF_joint_XX=0.347777;gnomADv4_1_AF_joint_XY=0.348319;gnomADv4_1_AN_grpmax_joint=67980;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10360;gnomADv4_1_nhomalt_joint_XX=5283;gnomADv4_1_nhomalt_joint_XY=5077;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27439511 chr22_27439511_C_A C A 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=3.154;CADD_Rawscore=0.289042;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||1/2|ENST00000654206.2:n.161-367C>A|||||||rs910404||1||||||||||||Ensembl||C|C||||chr22:g.27439511C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs910404|2196|1||||||||||||Ensembl||C|C||||chr22:g.27439511C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs910404|2205|1||||||||||||Ensembl||C|C||||chr22:g.27439511C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs910404|2205|1||||||||||||Ensembl||C|C||||chr22:g.27439511C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||1/2|XR_938123.4:n.161-367C>A|||||||rs910404||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27439511C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=145564;gnomADv4_1_AC_joint_XX=74266;gnomADv4_1_AC_joint_XY=71298;gnomADv4_1_AF_grpmax_joint=0.999807;gnomADv4_1_AF_joint=0.955696;gnomADv4_1_AF_joint_XX=0.954012;gnomADv4_1_AF_joint_XY=0.957457;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152312;gnomADv4_1_AN_joint_XX=77846;gnomADv4_1_AN_joint_XY=74466;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=69919;gnomADv4_1_nhomalt_joint_XX=35631;gnomADv4_1_nhomalt_joint_XY=34288;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27439631 chr22_27439631_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.18;CADD_Rawscore=-0.454538;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||1/2|ENST00000654206.2:n.161-247T>C|||||||rs1005349||1||||||||||||Ensembl||T|T||||chr22:g.27439631T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs1005349|2316|1||||||||||||Ensembl||T|T||||chr22:g.27439631T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs1005349|2325|1||||||||||||Ensembl||T|T||||chr22:g.27439631T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs1005349|2325|1||||||||||||Ensembl||T|T||||chr22:g.27439631T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||1/2|XR_938123.4:n.161-247T>C|||||||rs1005349||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27439631T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=145889;gnomADv4_1_AC_joint_XX=74437;gnomADv4_1_AC_joint_XY=71452;gnomADv4_1_AF_grpmax_joint=0.999807;gnomADv4_1_AF_joint=0.958535;gnomADv4_1_AF_joint_XX=0.956946;gnomADv4_1_AF_joint_XY=0.960196;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152200;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70234;gnomADv4_1_nhomalt_joint_XX=35796;gnomADv4_1_nhomalt_joint_XY=34438;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27439943 chr22_27439943_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.736;CADD_Rawscore=-0.09629;CSQ=G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA|2/3||ENST00000654206.2:n.226A>G||226|||||rs4239927||1||||||||||||Ensembl||A|A||||chr22:g.27439943A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs4239927|2628|1||||||||||||Ensembl||A|A||||chr22:g.27439943A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs4239927|2637|1||||||||||||Ensembl||A|A||||chr22:g.27439943A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs4239927|2637|1||||||||||||Ensembl||A|A||||chr22:g.27439943A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA|2/3||XR_938123.4:n.226A>G||226|||||rs4239927||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27439943A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=148156;gnomADv4_1_AC_joint_XX=75658;gnomADv4_1_AC_joint_XY=72498;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.972918;gnomADv4_1_AF_joint_XX=0.971893;gnomADv4_1_AF_joint_XY=0.97399;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152280;gnomADv4_1_AN_joint_XX=77846;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72201;gnomADv4_1_nhomalt_joint_XX=36842;gnomADv4_1_nhomalt_joint_XY=35359;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27440097 chr22_27440097_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.977;CADD_Rawscore=0.4537;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||2/2|ENST00000654206.2:n.328+52T>C|||||||rs2342942||1||||||||||||Ensembl||T|T||||chr22:g.27440097T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs2342942|2782|1||||||||||||Ensembl||T|T||||chr22:g.27440097T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs2342942|2791|1||||||||||||Ensembl||T|T||||chr22:g.27440097T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs2342942|2791|1||||||||||||Ensembl||T|T||||chr22:g.27440097T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||2/2|XR_938123.4:n.328+52T>C|||||||rs2342942||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27440097T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=111718;gnomADv4_1_AC_joint_XX=56760;gnomADv4_1_AC_joint_XY=54958;gnomADv4_1_AF_grpmax_joint=0.809079;gnomADv4_1_AF_joint=0.734919;gnomADv4_1_AF_joint_XX=0.730521;gnomADv4_1_AF_joint_XY=0.739518;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=42305;gnomADv4_1_nhomalt_joint_XX=21349;gnomADv4_1_nhomalt_joint_XY=20956;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27440114 chr22_27440114_A_T A T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.61;CADD_Rawscore=-0.143287;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||2/2|ENST00000654206.2:n.328+69A>T|||||||rs2342943||1||||||||||||Ensembl||A|A||||chr22:g.27440114A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs2342943|2799|1||||||||||||Ensembl||A|A||||chr22:g.27440114A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs2342943|2808|1||||||||||||Ensembl||A|A||||chr22:g.27440114A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs2342943|2808|1||||||||||||Ensembl||A|A||||chr22:g.27440114A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||2/2|XR_938123.4:n.328+69A>T|||||||rs2342943||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27440114A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=109324;gnomADv4_1_AC_joint_XX=55508;gnomADv4_1_AC_joint_XY=53816;gnomADv4_1_AF_grpmax_joint=0.808471;gnomADv4_1_AF_joint=0.719275;gnomADv4_1_AF_joint_XX=0.714517;gnomADv4_1_AF_joint_XY=0.724248;gnomADv4_1_AN_grpmax_joint=67948;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=40994;gnomADv4_1_nhomalt_joint_XX=20676;gnomADv4_1_nhomalt_joint_XY=20318;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27440138 chr22_27440138_A_T A T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.414;CADD_Rawscore=-0.240423;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||2/2|ENST00000654206.2:n.328+93A>T|||||||rs2342944||1||||||||||||Ensembl||A|A||||chr22:g.27440138A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs2342944|2823|1||||||||||||Ensembl||A|A||||chr22:g.27440138A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs2342944|2832|1||||||||||||Ensembl||A|A||||chr22:g.27440138A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs2342944|2832|1||||||||||||Ensembl||A|A||||chr22:g.27440138A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||2/2|XR_938123.4:n.328+93A>T|||||||rs2342944||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27440138A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=108793;gnomADv4_1_AC_joint_XX=55203;gnomADv4_1_AC_joint_XY=53590;gnomADv4_1_AF_grpmax_joint=0.815687;gnomADv4_1_AF_joint=0.715743;gnomADv4_1_AF_joint_XX=0.710591;gnomADv4_1_AF_joint_XY=0.721129;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=152000;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=40897;gnomADv4_1_nhomalt_joint_XX=20604;gnomADv4_1_nhomalt_joint_XY=20293;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27440200 chr22_27440200_A_T A T 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.798;CADD_Rawscore=0.135777;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||2/2|ENST00000654206.2:n.328+155A>T|||||||rs738577||1||||||||||||Ensembl||A|A||||chr22:g.27440200A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs738577|2885|1||||||||||||Ensembl||A|A||||chr22:g.27440200A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs738577|2894|1||||||||||||Ensembl||A|A||||chr22:g.27440200A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs738577|2894|1||||||||||||Ensembl||A|A||||chr22:g.27440200A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||2/2|XR_938123.4:n.328+155A>T|||||||rs738577||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27440200A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=137192;gnomADv4_1_AC_joint_XX=69868;gnomADv4_1_AC_joint_XY=67324;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.901606;gnomADv4_1_AF_joint_XX=0.898901;gnomADv4_1_AF_joint_XY=0.904431;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152164;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=63503;gnomADv4_1_nhomalt_joint_XX=32233;gnomADv4_1_nhomalt_joint_XY=31270;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27440216 chr22_27440216_A_T A T 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.205;CADD_Rawscore=0.03066;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||2/2|ENST00000654206.2:n.328+171A>T|||||||rs738576||1||||||||||||Ensembl||A|A||||chr22:g.27440216A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs738576|2901|1||||||||||||Ensembl||A|A||||chr22:g.27440216A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs738576|2910|1||||||||||||Ensembl||A|A||||chr22:g.27440216A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs738576|2910|1||||||||||||Ensembl||A|A||||chr22:g.27440216A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||2/2|XR_938123.4:n.328+171A>T|||||||rs738576||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27440216A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=137151;gnomADv4_1_AC_joint_XX=69840;gnomADv4_1_AC_joint_XY=67311;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.901455;gnomADv4_1_AF_joint_XX=0.898726;gnomADv4_1_AF_joint_XY=0.904304;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=63482;gnomADv4_1_nhomalt_joint_XX=32220;gnomADv4_1_nhomalt_joint_XY=31262;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27440432 chr22_27440432_A_T A T 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=2.662;CADD_Rawscore=0.240908;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||2/2|ENST00000654206.2:n.328+387A>T|||||||rs738575||1||||||||||||Ensembl||A|A||||chr22:g.27440432A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs738575|3117|1||||||||||||Ensembl||A|A||||chr22:g.27440432A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs738575|3126|1||||||||||||Ensembl||A|A||||chr22:g.27440432A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs738575|3126|1||||||||||||Ensembl||A|A||||chr22:g.27440432A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||2/2|XR_938123.4:n.328+387A>T|||||||rs738575||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27440432A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=70580;gnomADv4_1_AC_joint_XX=36070;gnomADv4_1_AC_joint_XY=34510;gnomADv4_1_AF_grpmax_joint=0.596621;gnomADv4_1_AF_joint=0.46433;gnomADv4_1_AF_joint_XX=0.464174;gnomADv4_1_AF_joint_XY=0.464493;gnomADv4_1_AN_grpmax_joint=67946;gnomADv4_1_AN_joint=152004;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=18575;gnomADv4_1_nhomalt_joint_XX=9493;gnomADv4_1_nhomalt_joint_XY=9082;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27440889 chr22_27440889_A_G A G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=2.989;CADD_Rawscore=0.27342;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||2/2|ENST00000654206.2:n.329-358A>G|||||||rs4822879||1||||||||||||Ensembl||A|A||||chr22:g.27440889A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs4822879|3574|1||||||||||||Ensembl||A|A||||chr22:g.27440889A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs4822879|3583|1||||||||||||Ensembl||A|A||||chr22:g.27440889A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs4822879|3583|1||||||||||||Ensembl||A|A||||chr22:g.27440889A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||2/2|XR_938123.4:n.329-358A>G|||||||rs4822879||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27440889A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=27176;gnomADv4_1_AC_joint_XX=13839;gnomADv4_1_AC_joint_XY=13337;gnomADv4_1_AF_grpmax_joint=0.314613;gnomADv4_1_AF_joint=0.179009;gnomADv4_1_AF_joint_XX=0.178237;gnomADv4_1_AF_joint_XY=0.179817;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=151814;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74170;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2880;gnomADv4_1_nhomalt_joint_XX=1447;gnomADv4_1_nhomalt_joint_XY=1433;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27440961 chr22_27440961_T_C T C 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.394;CADD_Rawscore=-0.252913;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||2/2|ENST00000654206.2:n.329-286T>C|||||||rs2144183||1||||||||||||Ensembl||T|T||||chr22:g.27440961T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783233|lncRNA||||||||||rs2144183|3646|1||||||||||||Ensembl||T|T||||chr22:g.27440961T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783234|lncRNA||||||||||rs2144183|3655|1||||||||||||Ensembl||T|T||||chr22:g.27440961T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000783235|lncRNA||||||||||rs2144183|3655|1||||||||||||Ensembl||T|T||||chr22:g.27440961T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||2/2|XR_938123.4:n.329-286T>C|||||||rs2144183||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27440961T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000654206,ENST00000783233,ENST00000783234,ENST00000783235,XR_938123.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000287034,ENSG00000287034,ENSG00000287034,ENSG00000287034,105372980;VEP_SYMBOL=.,.,.,.,LOC105372980;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=71766;gnomADv4_1_AC_joint_XX=36128;gnomADv4_1_AC_joint_XY=35638;gnomADv4_1_AF_grpmax_joint=0.583544;gnomADv4_1_AF_joint=0.472742;gnomADv4_1_AF_joint_XX=0.465447;gnomADv4_1_AF_joint_XY=0.480374;gnomADv4_1_AN_grpmax_joint=67904;gnomADv4_1_AN_joint=151808;gnomADv4_1_AN_joint_XX=77620;gnomADv4_1_AN_joint_XY=74188;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=19149;gnomADv4_1_nhomalt_joint_XX=9429;gnomADv4_1_nhomalt_joint_XY=9720;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27443743 chr22_27443743_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.582;CADD_Rawscore=0.328105;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs7288006|1965|1||||||||||||Ensembl||C|C||||chr22:g.27443743C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs7288006|1809|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27443743C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000654206,XR_938123.4;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000287034,105372980;VEP_SYMBOL=.,LOC105372980;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=81475;gnomADv4_1_AC_joint_XX=41254;gnomADv4_1_AC_joint_XY=40221;gnomADv4_1_AF_grpmax_joint=0.6591;gnomADv4_1_AF_joint=0.551879;gnomADv4_1_AF_joint_XX=0.545832;gnomADv4_1_AF_joint_XY=0.558222;gnomADv4_1_AN_grpmax_joint=67580;gnomADv4_1_AN_joint=147632;gnomADv4_1_AN_joint_XX=75580;gnomADv4_1_AN_joint_XY=72052;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=24243;gnomADv4_1_nhomalt_joint_XX=12102;gnomADv4_1_nhomalt_joint_XY=12141;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27444828 chr22_27444828_G_C G C 38 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.719;CADD_Rawscore=-0.102106;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs5762147|3050|1||||||||||||Ensembl||G|G||||chr22:g.27444828G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs5762147|2894|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27444828G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000654206,XR_938123.4;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000287034,105372980;VEP_SYMBOL=.,LOC105372980;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=115458;gnomADv4_1_AC_joint_XX=60172;gnomADv4_1_AC_joint_XY=55286;gnomADv4_1_AF_grpmax_joint=0.962775;gnomADv4_1_AF_joint=0.854434;gnomADv4_1_AF_joint_XX=0.853407;gnomADv4_1_AF_joint_XY=0.855556;gnomADv4_1_AN_grpmax_joint=4540;gnomADv4_1_AN_joint=135128;gnomADv4_1_AN_joint_XX=70508;gnomADv4_1_AN_joint_XY=64620;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=49744;gnomADv4_1_nhomalt_joint_XX=25862;gnomADv4_1_nhomalt_joint_XY=23882;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27444866 chr22_27444866_C_CAA C CAA 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=14;CADDIndel_PHREDscore=0.716;CADDIndel_Rawscore=-0.103189;CSQ=AA|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs59213794|3088|1||||||||||||Ensembl|||||||chr22:g.27444887_27444888dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs59213794|2932|1||EntrezGene||||||||||RefSeq|||||||chr22:g.27444887_27444888dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA;VEP_Feature=ENST00000654206,XR_938123.4;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000287034,105372980;VEP_SYMBOL=.,LOC105372980;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=27673;gnomADv4_1_AC_joint_XX=16001;gnomADv4_1_AC_joint_XY=11672;gnomADv4_1_AF_grpmax_joint=0.561306;gnomADv4_1_AF_joint=0.427554;gnomADv4_1_AF_joint_XX=0.439202;gnomADv4_1_AF_joint_XY=0.412555;gnomADv4_1_AN_grpmax_joint=34760;gnomADv4_1_AN_joint=64724;gnomADv4_1_AN_joint_XX=36432;gnomADv4_1_AN_joint_XY=28292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7268;gnomADv4_1_nhomalt_joint_XX=4261;gnomADv4_1_nhomalt_joint_XY=3007;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27444930 chr22_27444930_G_A G A 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADD_PHREDscore=2.151;CADD_Rawscore=0.183314;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs8142312|3152|1||||||||||||Ensembl||G|G||||chr22:g.27444930G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs8142312|2996|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27444930G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000654206,XR_938123.4;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000287034,105372980;VEP_SYMBOL=.,LOC105372980;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=80351;gnomADv4_1_AC_joint_XX=41013;gnomADv4_1_AC_joint_XY=39338;gnomADv4_1_AF_grpmax_joint=0.655368;gnomADv4_1_AF_joint=0.53971;gnomADv4_1_AF_joint_XX=0.535781;gnomADv4_1_AF_joint_XY=0.543868;gnomADv4_1_AN_grpmax_joint=67562;gnomADv4_1_AN_joint=148878;gnomADv4_1_AN_joint_XX=76548;gnomADv4_1_AN_joint_XY=72330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=23725;gnomADv4_1_nhomalt_joint_XX=11998;gnomADv4_1_nhomalt_joint_XY=11727;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27445465 chr22_27445465_C_CTAA;chr22_27445465_C_CTAATAATAATAA;chr22_27445465_C_CTAATAA;chr22_27445465_C_CTAATAATAA C CTAA 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.537;CADDIndel_Rawscore=-0.17551;CSQ=TAA|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs57702199|3687|1||||||||||||Ensembl|||||||chr22:g.27445505_27445507dup|||||||||||||,TAA|downstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs57702199|3531|1||EntrezGene||||||||||RefSeq|||||||chr22:g.27445505_27445507dup|||||||||||||;TYPE=INDEL;VEP_Allele=TAA,TAA;VEP_Feature=ENST00000654206,XR_938123.4;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000287034,105372980;VEP_SYMBOL=.,LOC105372980;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=32031;gnomADv4_1_AC_joint_XX=16582;gnomADv4_1_AC_joint_XY=15449;gnomADv4_1_AF_grpmax_joint=0.349814;gnomADv4_1_AF_joint=0.290299;gnomADv4_1_AF_joint_XX=0.291137;gnomADv4_1_AF_joint_XY=0.289405;gnomADv4_1_AN_grpmax_joint=4308;gnomADv4_1_AN_joint=110338;gnomADv4_1_AN_joint_XX=56956;gnomADv4_1_AN_joint_XY=53382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3914;gnomADv4_1_nhomalt_joint_XX=2005;gnomADv4_1_nhomalt_joint_XY=1909;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27445465 chr22_27445465_C_CTAA;chr22_27445465_C_CTAATAATAATAA;chr22_27445465_C_CTAATAA;chr22_27445465_C_CTAATAATAA C CTAATAATAATAA 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.456;CADDIndel_Rawscore=-0.215961;CSQ=TAATAATAATAA|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs57702199|3687|1||||||||||||Ensembl|||||||chr22:g.27445496_27445507dup|||||||||||||,TAATAATAATAA|downstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs57702199|3531|1||EntrezGene||||||||||RefSeq|||||||chr22:g.27445496_27445507dup|||||||||||||;TYPE=INDEL;VEP_Allele=TAATAATAATAA,TAATAATAATAA;VEP_Feature=ENST00000654206,XR_938123.4;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000287034,105372980;VEP_SYMBOL=.,LOC105372980;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=420;gnomADv4_1_AC_joint_XX=219;gnomADv4_1_AC_joint_XY=201;gnomADv4_1_AF_grpmax_joint=0.0263158;gnomADv4_1_AF_joint=0.00378201;gnomADv4_1_AF_joint_XX=0.00382079;gnomADv4_1_AF_joint_XY=0.00374065;gnomADv4_1_AN_grpmax_joint=190;gnomADv4_1_AN_joint=111052;gnomADv4_1_AN_joint_XX=57318;gnomADv4_1_AN_joint_XY=53734;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27445465 chr22_27445465_C_CTAA;chr22_27445465_C_CTAATAATAATAA;chr22_27445465_C_CTAATAA;chr22_27445465_C_CTAATAATAA C CTAATAA 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=24;CADDIndel_PHREDscore=0.509;CADDIndel_Rawscore=-0.188641;CSQ=TAATAA|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs57702199|3687|1||||||||||||Ensembl|||||||chr22:g.27445502_27445507dup|||||||||||||,TAATAA|downstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs57702199|3531|1||EntrezGene||||||||||RefSeq|||||||chr22:g.27445502_27445507dup|||||||||||||;TYPE=INDEL;VEP_Allele=TAATAA,TAATAA;VEP_Feature=ENST00000654206,XR_938123.4;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000287034,105372980;VEP_SYMBOL=.,LOC105372980;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=12446;gnomADv4_1_AC_joint_XX=6458;gnomADv4_1_AC_joint_XY=5988;gnomADv4_1_AF_grpmax_joint=0.124908;gnomADv4_1_AF_joint=0.112487;gnomADv4_1_AF_joint_XX=0.113072;gnomADv4_1_AF_joint_XY=0.111863;gnomADv4_1_AN_grpmax_joint=54288;gnomADv4_1_AN_joint=110644;gnomADv4_1_AN_joint_XX=57114;gnomADv4_1_AN_joint_XY=53530;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=645;gnomADv4_1_nhomalt_joint_XX=325;gnomADv4_1_nhomalt_joint_XY=320;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27445465 chr22_27445465_C_CTAA;chr22_27445465_C_CTAATAATAATAA;chr22_27445465_C_CTAATAA;chr22_27445465_C_CTAATAATAA C CTAATAATAA 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=24;CADDIndel_PHREDscore=0.484;CADDIndel_Rawscore=-0.201153;CSQ=TAATAATAA|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs57702199|3687|1||||||||||||Ensembl|||||||chr22:g.27445499_27445507dup|||||||||||||,TAATAATAA|downstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs57702199|3531|1||EntrezGene||||||||||RefSeq|||||||chr22:g.27445499_27445507dup|||||||||||||;TYPE=INDEL;VEP_Allele=TAATAATAA,TAATAATAA;VEP_Feature=ENST00000654206,XR_938123.4;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000287034,105372980;VEP_SYMBOL=.,LOC105372980;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=3095;gnomADv4_1_AC_joint_XX=1506;gnomADv4_1_AC_joint_XY=1589;gnomADv4_1_AF_grpmax_joint=0.0736942;gnomADv4_1_AF_joint=0.0278949;gnomADv4_1_AF_joint_XX=0.0262937;gnomADv4_1_AF_joint_XY=0.0296035;gnomADv4_1_AN_grpmax_joint=11602;gnomADv4_1_AN_joint=110952;gnomADv4_1_AN_joint_XX=57276;gnomADv4_1_AN_joint_XY=53676;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=63;gnomADv4_1_nhomalt_joint_XX=25;gnomADv4_1_nhomalt_joint_XY=38;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27445557 chr22_27445557_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.051;CADD_Rawscore=-0.793309;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs6005445|3779|1||||||||||||Ensembl||A|A||||chr22:g.27445557A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs6005445|3623|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27445557A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000654206,XR_938123.4;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000287034,105372980;VEP_SYMBOL=.,LOC105372980;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=125889;gnomADv4_1_AC_joint_XX=64355;gnomADv4_1_AC_joint_XY=61534;gnomADv4_1_AF_grpmax_joint=0.873539;gnomADv4_1_AF_joint=0.830238;gnomADv4_1_AF_joint_XX=0.829766;gnomADv4_1_AF_joint_XY=0.830732;gnomADv4_1_AN_grpmax_joint=4792;gnomADv4_1_AN_joint=151630;gnomADv4_1_AN_joint_XX=77558;gnomADv4_1_AN_joint_XY=74072;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=52756;gnomADv4_1_nhomalt_joint_XX=26923;gnomADv4_1_nhomalt_joint_XY=25833;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27445624 chr22_27445624_A_G A G 61 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=61;CADD_PHREDscore=0.967;CADD_Rawscore=-0.026461;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs6005446|3846|1||||||||||||Ensembl||A|A||||chr22:g.27445624A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs6005446|3690|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27445624A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000654206,XR_938123.4;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000287034,105372980;VEP_SYMBOL=.,LOC105372980;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=145917;gnomADv4_1_AC_joint_XX=74420;gnomADv4_1_AC_joint_XY=71497;gnomADv4_1_AF_grpmax_joint=0.999419;gnomADv4_1_AF_joint=0.958983;gnomADv4_1_AF_joint_XX=0.95685;gnomADv4_1_AF_joint_XY=0.961214;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=69974;gnomADv4_1_nhomalt_joint_XX=35603;gnomADv4_1_nhomalt_joint_XY=34371;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27446354 chr22_27446354_A_T A T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=57;CADD_PHREDscore=0.031;CADD_Rawscore=-0.937279;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000287034|Transcript|ENST00000654206|lncRNA||||||||||rs910403|4576|1||||||||||||Ensembl||A|A||||chr22:g.27446354A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC105372980|105372980|Transcript|XR_938123.4|lncRNA||||||||||rs910403|4420|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27446354A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000654206,XR_938123.4;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000287034,105372980;VEP_SYMBOL=.,LOC105372980;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=127396;gnomADv4_1_AC_joint_XX=65056;gnomADv4_1_AC_joint_XY=62340;gnomADv4_1_AF_grpmax_joint=0.874948;gnomADv4_1_AF_joint=0.837669;gnomADv4_1_AF_joint_XX=0.837185;gnomADv4_1_AF_joint_XY=0.838174;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=53820;gnomADv4_1_nhomalt_joint_XX=27431;gnomADv4_1_nhomalt_joint_XY=26389;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27447533 chr22_27447533_C_T C T 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=4.168;CADD_Rawscore=0.380171;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs16984688|||||||||||||||||||||chr22:g.27447533C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=4006;gnomADv4_1_AC_joint_XX=2055;gnomADv4_1_AC_joint_XY=1951;gnomADv4_1_AF_grpmax_joint=0.0691705;gnomADv4_1_AF_joint=0.026292;gnomADv4_1_AF_joint_XX=0.0263935;gnomADv4_1_AF_joint_XY=0.0261858;gnomADv4_1_AN_grpmax_joint=15310;gnomADv4_1_AN_joint=152366;gnomADv4_1_AN_joint_XX=77860;gnomADv4_1_AN_joint_XY=74506;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=101;gnomADv4_1_nhomalt_joint_XX=44;gnomADv4_1_nhomalt_joint_XY=57;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27447677 chr22_27447677_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=2.069;CADD_Rawscore=0.172913;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs9625234|||||||||||||||||||||chr22:g.27447677C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=13840;gnomADv4_1_AC_joint_XX=7308;gnomADv4_1_AC_joint_XY=6532;gnomADv4_1_AF_grpmax_joint=0.128547;gnomADv4_1_AF_joint=0.0909127;gnomADv4_1_AF_joint_XX=0.0939187;gnomADv4_1_AF_joint_XY=0.0877697;gnomADv4_1_AN_grpmax_joint=15294;gnomADv4_1_AN_joint=152234;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=832;gnomADv4_1_nhomalt_joint_XX=454;gnomADv4_1_nhomalt_joint_XY=378;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27447792 chr22_27447792_G_A G A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.187;CADD_Rawscore=-0.444049;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs6519711|||||||||||||||||||||chr22:g.27447792G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=83129;gnomADv4_1_AC_joint_XX=42047;gnomADv4_1_AC_joint_XY=41082;gnomADv4_1_AF_grpmax_joint=0.678988;gnomADv4_1_AF_joint=0.546801;gnomADv4_1_AF_joint_XX=0.541048;gnomADv4_1_AF_joint_XY=0.552816;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25434;gnomADv4_1_nhomalt_joint_XX=12728;gnomADv4_1_nhomalt_joint_XY=12706;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27447844 chr22_27447844_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=3.792;CADD_Rawscore=0.346782;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5762149|||||||||||||||||||||chr22:g.27447844A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=152004;gnomADv4_1_AC_joint_XX=77697;gnomADv4_1_AC_joint_XY=74307;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.998266;gnomADv4_1_AF_joint_XX=0.998342;gnomADv4_1_AF_joint_XY=0.998187;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152268;gnomADv4_1_AN_joint_XX=77826;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75870;gnomADv4_1_nhomalt_joint_XX=38784;gnomADv4_1_nhomalt_joint_XY=37086;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27448140 chr22_27448140_T_G T G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.346;CADD_Rawscore=-0.285896;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs1569826|||||||||||||||||||||chr22:g.27448140T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=86983;gnomADv4_1_AC_joint_XX=44064;gnomADv4_1_AC_joint_XY=42919;gnomADv4_1_AF_grpmax_joint=0.691123;gnomADv4_1_AF_joint=0.57182;gnomADv4_1_AF_joint_XX=0.56674;gnomADv4_1_AF_joint_XY=0.577132;gnomADv4_1_AN_grpmax_joint=67998;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=27023;gnomADv4_1_nhomalt_joint_XX=13570;gnomADv4_1_nhomalt_joint_XY=13453;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27448709 chr22_27448709_G_C G C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.235;CADD_Rawscore=-0.385321;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762150|||||||||||||||||||||chr22:g.27448709G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15979;gnomADv4_1_AC_joint_XX=8200;gnomADv4_1_AC_joint_XY=7779;gnomADv4_1_AF_grpmax_joint=0.339458;gnomADv4_1_AF_joint=0.104983;gnomADv4_1_AF_joint_XX=0.105412;gnomADv4_1_AF_joint_XY=0.104534;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152206;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1092;gnomADv4_1_nhomalt_joint_XX=555;gnomADv4_1_nhomalt_joint_XY=537;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27449018 chr22_27449018_A_T A T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.502;CADD_Rawscore=-0.192339;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs4822880|||||||||||||||||||||chr22:g.27449018A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=144081;gnomADv4_1_AC_joint_XX=73620;gnomADv4_1_AC_joint_XY=70461;gnomADv4_1_AF_grpmax_joint=0.986526;gnomADv4_1_AF_joint=0.946283;gnomADv4_1_AF_joint_XX=0.946054;gnomADv4_1_AF_joint_XY=0.946522;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152260;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=68269;gnomADv4_1_nhomalt_joint_XX=34873;gnomADv4_1_nhomalt_joint_XY=33396;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27450914 chr22_27450914_A_T A T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.841;CADD_Rawscore=0.142088;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs738574|||||||||||||||||||||chr22:g.27450914A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=86480;gnomADv4_1_AC_joint_XX=43872;gnomADv4_1_AC_joint_XY=42608;gnomADv4_1_AF_grpmax_joint=0.700347;gnomADv4_1_AF_joint=0.56879;gnomADv4_1_AF_joint_XX=0.564372;gnomADv4_1_AF_joint_XY=0.573413;gnomADv4_1_AN_grpmax_joint=67982;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=27168;gnomADv4_1_nhomalt_joint_XX=13672;gnomADv4_1_nhomalt_joint_XY=13496;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27451357 chr22_27451357_G_A G A 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.925;CADD_Rawscore=0.153803;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5762151|||||||||||||||||||||chr22:g.27451357G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15466;gnomADv4_1_AC_joint_XX=7880;gnomADv4_1_AC_joint_XY=7586;gnomADv4_1_AF_grpmax_joint=0.363019;gnomADv4_1_AF_joint=0.10162;gnomADv4_1_AF_joint_XX=0.101293;gnomADv4_1_AF_joint_XY=0.101962;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1011;gnomADv4_1_nhomalt_joint_XX=498;gnomADv4_1_nhomalt_joint_XY=513;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27451388 chr22_27451388_G_A G A 65 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=65;CADD_PHREDscore=0.763;CADD_Rawscore=-0.087134;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5752549|||||||||||||||||||||chr22:g.27451388G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=146321;gnomADv4_1_AC_joint_XX=74659;gnomADv4_1_AC_joint_XY=71662;gnomADv4_1_AF_grpmax_joint=0.999807;gnomADv4_1_AF_joint=0.960805;gnomADv4_1_AF_joint_XX=0.959183;gnomADv4_1_AF_joint_XY=0.9625;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152290;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70311;gnomADv4_1_nhomalt_joint_XX=35815;gnomADv4_1_nhomalt_joint_XY=34496;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27451440 chr22_27451440_C_T C T 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.999;CADD_Rawscore=-0.017952;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs76080202|||||||||||||||||||||chr22:g.27451440C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=3555;gnomADv4_1_AC_joint_XX=1909;gnomADv4_1_AC_joint_XY=1646;gnomADv4_1_AF_grpmax_joint=0.0367507;gnomADv4_1_AF_joint=0.023347;gnomADv4_1_AF_joint_XX=0.0245329;gnomADv4_1_AF_joint_XY=0.0221076;gnomADv4_1_AN_grpmax_joint=68026;gnomADv4_1_AN_joint=152268;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=56;gnomADv4_1_nhomalt_joint_XX=28;gnomADv4_1_nhomalt_joint_XY=28;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27452028 chr22_27452028_G_GTGGA G GTGGA 42 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=0;AC_XY=4;AF=1.0;AF_XX=.;AF_XY=1.0;AN=4;AN_XX=0;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.959;CADDIndel_Rawscore=-0.028509;CSQ=TGGA|intergenic_variant|MODIFIER|||||||||||||||rs35879273|||||||||||||||||||||chr22:g.27452048_27452051dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGGA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=120975;gnomADv4_1_AC_joint_XX=62027;gnomADv4_1_AC_joint_XY=58948;gnomADv4_1_AF_grpmax_joint=0.894939;gnomADv4_1_AF_joint=0.81284;gnomADv4_1_AF_joint_XX=0.813597;gnomADv4_1_AF_joint_XY=0.812045;gnomADv4_1_AN_grpmax_joint=40348;gnomADv4_1_AN_joint=148830;gnomADv4_1_AN_joint_XX=76238;gnomADv4_1_AN_joint_XY=72592;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=49343;gnomADv4_1_nhomalt_joint_XX=25332;gnomADv4_1_nhomalt_joint_XY=24011;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27452168 chr22_27452168_G_GTGGA;chr22_27452168_G_GTGGATGGATGGA G GTGGA 34 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=34;CADDIndel_PHREDscore=2.929;CADDIndel_Rawscore=0.267656;CSQ=TGGA|downstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000794108|lncRNA||||||||||rs111415021|4956|-1||||||||||||Ensembl|||||||chr22:g.27452197_27452200dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGGA;VEP_Feature=ENST00000794108;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000227880;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=8095;gnomADv4_1_AC_joint_XX=4188;gnomADv4_1_AC_joint_XY=3907;gnomADv4_1_AF_grpmax_joint=0.0930999;gnomADv4_1_AF_joint=0.0591187;gnomADv4_1_AF_joint_XX=0.0597109;gnomADv4_1_AF_joint_XY=0.0584968;gnomADv4_1_AN_grpmax_joint=3942;gnomADv4_1_AN_joint=136928;gnomADv4_1_AN_joint_XX=70138;gnomADv4_1_AN_joint_XY=66790;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=244;gnomADv4_1_nhomalt_joint_XX=126;gnomADv4_1_nhomalt_joint_XY=118;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27452168 chr22_27452168_G_GTGGA;chr22_27452168_G_GTGGATGGATGGA G GTGGATGGATGGA 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=32;CADDIndel_PHREDscore=2.586;CADDIndel_Rawscore=0.23295;CSQ=TGGATGGATGGA|downstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000794108|lncRNA||||||||||rs111415021|4956|-1||||||||||||Ensembl|||||||chr22:g.27452189_27452200dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGGATGGATGGA;VEP_Feature=ENST00000794108;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000227880;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=14020;gnomADv4_1_AC_joint_XX=7083;gnomADv4_1_AC_joint_XY=6937;gnomADv4_1_AF_grpmax_joint=0.311625;gnomADv4_1_AF_joint=0.102475;gnomADv4_1_AF_joint_XX=0.101088;gnomADv4_1_AF_joint_XY=0.103931;gnomADv4_1_AN_grpmax_joint=4284;gnomADv4_1_AN_joint=136814;gnomADv4_1_AN_joint_XX=70068;gnomADv4_1_AN_joint_XY=66746;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1029;gnomADv4_1_nhomalt_joint_XX=479;gnomADv4_1_nhomalt_joint_XY=550;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27452463 chr22_27452463_G_GTGGATGGA;chr22_27452463_G_GTGGA G GTGGATGGA 39 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=25;CADDIndel_PHREDscore=0.624;CADDIndel_Rawscore=-0.137847;CSQ=TGGATGGA|downstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000440477|lncRNA||||||||||rs150249380|4783|-1||||3||||||||Ensembl|||||||chr22:g.27452503_27452510dup|||||||||||||,TGGATGGA|downstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000794108|lncRNA||||||||||rs150249380|4661|-1||||||||||||Ensembl|||||||chr22:g.27452503_27452510dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGGATGGA,TGGATGGA;VEP_Feature=ENST00000440477,ENST00000794108;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000227880,ENSG00000227880;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=32177;gnomADv4_1_AC_joint_XX=16519;gnomADv4_1_AC_joint_XY=15658;gnomADv4_1_AF_grpmax_joint=0.287239;gnomADv4_1_AF_joint=0.242688;gnomADv4_1_AF_joint_XX=0.239941;gnomADv4_1_AF_joint_XY=0.245654;gnomADv4_1_AN_grpmax_joint=62046;gnomADv4_1_AN_joint=132586;gnomADv4_1_AN_joint_XX=68846;gnomADv4_1_AN_joint_XY=63740;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4265;gnomADv4_1_nhomalt_joint_XX=2166;gnomADv4_1_nhomalt_joint_XY=2099;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27452463 chr22_27452463_G_GTGGATGGA;chr22_27452463_G_GTGGA G GTGGA 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=39;CADDIndel_PHREDscore=0.672;CADDIndel_Rawscore=-0.119158;CSQ=TGGA|downstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000440477|lncRNA||||||||||rs150249380|4783|-1||||3||||||||Ensembl|||||||chr22:g.27452507_27452510dup|||||||||||||,TGGA|downstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000794108|lncRNA||||||||||rs150249380|4661|-1||||||||||||Ensembl|||||||chr22:g.27452507_27452510dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGGA,TGGA;VEP_Feature=ENST00000440477,ENST00000794108;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000227880,ENSG00000227880;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=51443;gnomADv4_1_AC_joint_XX=26579;gnomADv4_1_AC_joint_XY=24864;gnomADv4_1_AF_grpmax_joint=0.511744;gnomADv4_1_AF_joint=0.388015;gnomADv4_1_AF_joint_XX=0.386143;gnomADv4_1_AF_joint_XY=0.390036;gnomADv4_1_AN_grpmax_joint=13028;gnomADv4_1_AN_joint=132580;gnomADv4_1_AN_joint_XX=68832;gnomADv4_1_AN_joint_XY=63748;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=10294;gnomADv4_1_nhomalt_joint_XX=5223;gnomADv4_1_nhomalt_joint_XY=5071;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27453186 chr22_27453186_T_C T C 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.471;CADD_Rawscore=0.082932;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000440477|lncRNA||||||||||rs6005448|4061|-1||||3||||||||Ensembl||T|T||||chr22:g.27453186T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000794108|lncRNA||||||||||rs6005448|3939|-1||||||||||||Ensembl||T|T||||chr22:g.27453186T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000440477,ENST00000794108;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000227880,ENSG00000227880;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=146453;gnomADv4_1_AC_joint_XX=74732;gnomADv4_1_AC_joint_XY=71721;gnomADv4_1_AF_grpmax_joint=0.999807;gnomADv4_1_AF_joint=0.961798;gnomADv4_1_AF_joint_XX=0.960294;gnomADv4_1_AF_joint_XY=0.96337;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152270;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70446;gnomADv4_1_nhomalt_joint_XX=35889;gnomADv4_1_nhomalt_joint_XY=34557;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27454910 chr22_27454910_A_T A T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=2.109;CADD_Rawscore=0.178064;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000440477|lncRNA||||||||||rs55658730|2337|-1||||3||||||||Ensembl||A|A||||chr22:g.27454910A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000794108|lncRNA||||||||||rs55658730|2215|-1||||||||||||Ensembl||A|A||||chr22:g.27454910A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000440477,ENST00000794108;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000227880,ENSG00000227880;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=30568;gnomADv4_1_AC_joint_XX=15684;gnomADv4_1_AC_joint_XY=14884;gnomADv4_1_AF_grpmax_joint=0.478541;gnomADv4_1_AF_joint=0.201804;gnomADv4_1_AF_joint_XX=0.20239;gnomADv4_1_AF_joint_XY=0.20119;gnomADv4_1_AN_grpmax_joint=5126;gnomADv4_1_AN_joint=151474;gnomADv4_1_AN_joint_XX=77494;gnomADv4_1_AN_joint_XY=73980;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3237;gnomADv4_1_nhomalt_joint_XX=1699;gnomADv4_1_nhomalt_joint_XY=1538;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27456314 chr22_27456314_A_G A G 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=2.769;CADD_Rawscore=0.251753;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000440477|lncRNA||||||||||rs910402|933|-1||||3||||||||Ensembl||A|A||||chr22:g.27456314A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000794108|lncRNA||||||||||rs910402|811|-1||||||||||||Ensembl||A|A||||chr22:g.27456314A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000440477,ENST00000794108;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000227880,ENSG00000227880;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=72486;gnomADv4_1_AC_joint_XX=37327;gnomADv4_1_AC_joint_XY=35159;gnomADv4_1_AF_grpmax_joint=0.690634;gnomADv4_1_AF_joint=0.47739;gnomADv4_1_AF_joint_XX=0.480671;gnomADv4_1_AF_joint_XY=0.473956;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=151838;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74182;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18887;gnomADv4_1_nhomalt_joint_XX=9765;gnomADv4_1_nhomalt_joint_XY=9122;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27456608 chr22_27456608_C_T C T 55 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.02;CADD_Rawscore=-0.012603;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000440477|lncRNA||||||||||rs2009947|639|-1||||3||||||||Ensembl||C|C||||chr22:g.27456608C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000794108|lncRNA||||||||||rs2009947|517|-1||||||||||||Ensembl||C|C||||chr22:g.27456608C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000440477,ENST00000794108;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000227880,ENSG00000227880;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=71242;gnomADv4_1_AC_joint_XX=36649;gnomADv4_1_AC_joint_XY=34593;gnomADv4_1_AF_grpmax_joint=0.657679;gnomADv4_1_AF_joint=0.470872;gnomADv4_1_AF_joint_XX=0.473501;gnomADv4_1_AF_joint_XY=0.468118;gnomADv4_1_AN_grpmax_joint=5118;gnomADv4_1_AN_joint=151298;gnomADv4_1_AN_joint_XX=77400;gnomADv4_1_AN_joint_XY=73898;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18218;gnomADv4_1_nhomalt_joint_XX=9398;gnomADv4_1_nhomalt_joint_XY=8820;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27456653 chr22_27456653_C_CA C CA 59 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADDIndel_PHREDscore=0.31;CADDIndel_Rawscore=-0.313672;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000440477|lncRNA||||||||||rs35286139|593|-1||||3||||||||Ensembl|||||||chr22:g.27456665dup|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000794108|lncRNA||||||||||rs35286139|471|-1||||||||||||Ensembl|||||||chr22:g.27456665dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A;VEP_Feature=ENST00000440477,ENST00000794108;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000227880,ENSG00000227880;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=31244;gnomADv4_1_AC_joint_XX=16066;gnomADv4_1_AC_joint_XY=15178;gnomADv4_1_AF_grpmax_joint=0.501013;gnomADv4_1_AF_joint=0.222279;gnomADv4_1_AF_joint_XX=0.221264;gnomADv4_1_AF_joint_XY=0.223364;gnomADv4_1_AN_grpmax_joint=4938;gnomADv4_1_AN_joint=140562;gnomADv4_1_AN_joint_XX=72610;gnomADv4_1_AN_joint_XY=67952;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3409;gnomADv4_1_nhomalt_joint_XX=1763;gnomADv4_1_nhomalt_joint_XY=1646;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27458027 chr22_27458027_T_C T C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.247;CADD_Rawscore=-0.372083;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000440477|lncRNA||1/1|ENST00000440477.1:n.287-297A>G|||||||rs910401||-1||||3||||||||Ensembl||T|T||||chr22:g.27458027T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000794108|lncRNA||2/2|ENST00000794108.1:n.375-297A>G|||||||rs910401||-1||||||||||||Ensembl||T|T||||chr22:g.27458027T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000440477,ENST00000794108;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000227880,ENSG00000227880;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=65117;gnomADv4_1_AC_joint_XX=33376;gnomADv4_1_AC_joint_XY=31741;gnomADv4_1_AF_grpmax_joint=0.672875;gnomADv4_1_AF_joint=0.428762;gnomADv4_1_AF_joint_XX=0.42976;gnomADv4_1_AF_joint_XY=0.427719;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151872;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74210;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15545;gnomADv4_1_nhomalt_joint_XX=7987;gnomADv4_1_nhomalt_joint_XY=7558;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27459105 chr22_27459105_G_A G A 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=4.696;CADD_Rawscore=0.4277;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000440477|lncRNA||1/1|ENST00000440477.1:n.286+670C>T|||||||rs5762156||-1||||3||||||||Ensembl||G|G||||chr22:g.27459105G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000794108|lncRNA||2/2|ENST00000794108.1:n.374+849C>T|||||||rs5762156||-1||||||||||||Ensembl||G|G||||chr22:g.27459105G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000440477,ENST00000794108;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000227880,ENSG00000227880;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=22125;gnomADv4_1_AC_joint_XX=11292;gnomADv4_1_AC_joint_XY=10833;gnomADv4_1_AF_grpmax_joint=0.40217;gnomADv4_1_AF_joint=0.145412;gnomADv4_1_AF_joint_XX=0.145212;gnomADv4_1_AF_joint_XY=0.14562;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2502;gnomADv4_1_nhomalt_joint_XX=1249;gnomADv4_1_nhomalt_joint_XY=1253;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27459374 chr22_27459374_C_A C A 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.434;CADD_Rawscore=-0.228679;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000440477|lncRNA||1/1|ENST00000440477.1:n.286+401G>T|||||||rs2342945||-1||||3||||||||Ensembl||C|C||||chr22:g.27459374C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000794108|lncRNA||2/2|ENST00000794108.1:n.374+580G>T|||||||rs2342945||-1||||||||||||Ensembl||C|C||||chr22:g.27459374C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000440477,ENST00000794108;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000227880,ENSG00000227880;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=105360;gnomADv4_1_AC_joint_XX=54316;gnomADv4_1_AC_joint_XY=51044;gnomADv4_1_AF_grpmax_joint=0.828251;gnomADv4_1_AF_joint=0.692484;gnomADv4_1_AF_joint_XX=0.698149;gnomADv4_1_AF_joint_XY=0.686555;gnomADv4_1_AN_grpmax_joint=41514;gnomADv4_1_AN_joint=152148;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=37270;gnomADv4_1_nhomalt_joint_XX=19355;gnomADv4_1_nhomalt_joint_XY=17915;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27461211 chr22_27461211_G_A G A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.68;CADD_Rawscore=-0.116254;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000440477|lncRNA||||||||||rs1997930|1151|-1||||3||||||||Ensembl||G|G||||chr22:g.27461211G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000794108|lncRNA||||||||||rs1997930|340|-1||||||||||||Ensembl||G|G||||chr22:g.27461211G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000440477,ENST00000794108;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000227880,ENSG00000227880;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=65063;gnomADv4_1_AC_joint_XX=33273;gnomADv4_1_AC_joint_XY=31790;gnomADv4_1_AF_grpmax_joint=0.661759;gnomADv4_1_AF_joint=0.428193;gnomADv4_1_AF_joint_XX=0.428334;gnomADv4_1_AF_joint_XY=0.428044;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151948;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15448;gnomADv4_1_nhomalt_joint_XX=7903;gnomADv4_1_nhomalt_joint_XY=7545;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27462082 chr22_27462082_T_G T G 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.745;CADD_Rawscore=-0.09302;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000440477|lncRNA||||||||||rs5752552|2022|-1||||3||||||||Ensembl||T|T||||chr22:g.27462082T>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000794108|lncRNA||||||||||rs5752552|1211|-1||||||||||||Ensembl||T|T||||chr22:g.27462082T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000440477,ENST00000794108;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000227880,ENSG00000227880;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=73910;gnomADv4_1_AC_joint_XX=38063;gnomADv4_1_AC_joint_XY=35847;gnomADv4_1_AF_grpmax_joint=0.694043;gnomADv4_1_AF_joint=0.492077;gnomADv4_1_AF_joint_XX=0.494004;gnomADv4_1_AF_joint_XY=0.490048;gnomADv4_1_AN_grpmax_joint=41058;gnomADv4_1_AN_joint=150200;gnomADv4_1_AN_joint_XX=77050;gnomADv4_1_AN_joint_XY=73150;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=19714;gnomADv4_1_nhomalt_joint_XX=10221;gnomADv4_1_nhomalt_joint_XY=9493;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27462723 chr22_27462723_A_C A C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=12.93;CADD_Rawscore=1.30298;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000440477|lncRNA||||||||||rs4822882|2663|-1||||3||||||||Ensembl||A|A||||chr22:g.27462723A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000794108|lncRNA||||||||||rs4822882|1852|-1||||||||||||Ensembl||A|A||||chr22:g.27462723A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000440477,ENST00000794108;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000227880,ENSG00000227880;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=73102;gnomADv4_1_AC_joint_XX=37656;gnomADv4_1_AC_joint_XY=35446;gnomADv4_1_AF_grpmax_joint=0.678026;gnomADv4_1_AF_joint=0.483511;gnomADv4_1_AF_joint_XX=0.486801;gnomADv4_1_AF_joint_XY=0.480064;gnomADv4_1_AN_grpmax_joint=41112;gnomADv4_1_AN_joint=151190;gnomADv4_1_AN_joint_XX=77354;gnomADv4_1_AN_joint_XY=73836;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=19228;gnomADv4_1_nhomalt_joint_XX=9961;gnomADv4_1_nhomalt_joint_XY=9267;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27462742 chr22_27462742_G_A G A 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=7.613;CADD_Rawscore=0.725602;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000440477|lncRNA||||||||||rs5762160|2682|-1||||3||||||||Ensembl||G|G||||chr22:g.27462742G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000794108|lncRNA||||||||||rs5762160|1871|-1||||||||||||Ensembl||G|G||||chr22:g.27462742G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000440477,ENST00000794108;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000227880,ENSG00000227880;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=73109;gnomADv4_1_AC_joint_XX=37654;gnomADv4_1_AC_joint_XY=35455;gnomADv4_1_AF_grpmax_joint=0.679758;gnomADv4_1_AF_joint=0.48549;gnomADv4_1_AF_joint_XX=0.488088;gnomADv4_1_AF_joint_XY=0.482762;gnomADv4_1_AN_grpmax_joint=41044;gnomADv4_1_AN_joint=150588;gnomADv4_1_AN_joint_XX=77146;gnomADv4_1_AN_joint_XY=73442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=19226;gnomADv4_1_nhomalt_joint_XX=9956;gnomADv4_1_nhomalt_joint_XY=9270;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27462840 chr22_27462840_G_T G T 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=3.754;CADD_Rawscore=0.343442;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000440477|lncRNA||||||||||rs5762161|2780|-1||||3||||||||Ensembl||G|G||||chr22:g.27462840G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000227880|Transcript|ENST00000794108|lncRNA||||||||||rs5762161|1969|-1||||||||||||Ensembl||G|G||||chr22:g.27462840G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000440477,ENST00000794108;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000227880,ENSG00000227880;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=23086;gnomADv4_1_AC_joint_XX=11778;gnomADv4_1_AC_joint_XY=11308;gnomADv4_1_AF_grpmax_joint=0.387723;gnomADv4_1_AF_joint=0.151874;gnomADv4_1_AF_joint_XX=0.151575;gnomADv4_1_AF_joint_XY=0.152186;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2630;gnomADv4_1_nhomalt_joint_XX=1318;gnomADv4_1_nhomalt_joint_XY=1312;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27465961 chr22_27465961_G_A G A 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=8.272;CADD_Rawscore=0.798526;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5762162|||||||||||||||||||||chr22:g.27465961G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=67407;gnomADv4_1_AC_joint_XX=34765;gnomADv4_1_AC_joint_XY=32642;gnomADv4_1_AF_grpmax_joint=0.648682;gnomADv4_1_AF_joint=0.443082;gnomADv4_1_AF_joint_XX=0.447069;gnomADv4_1_AF_joint_XY=0.438914;gnomADv4_1_AN_grpmax_joint=41498;gnomADv4_1_AN_joint=152132;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=16654;gnomADv4_1_nhomalt_joint_XX=8684;gnomADv4_1_nhomalt_joint_XY=7970;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27466001 chr22_27466001_G_A G A 54 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.028;CADD_Rawscore=-0.957519;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5762163|||||||||||||||||||||chr22:g.27466001G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=67451;gnomADv4_1_AC_joint_XX=34798;gnomADv4_1_AC_joint_XY=32653;gnomADv4_1_AF_grpmax_joint=0.649015;gnomADv4_1_AF_joint=0.443401;gnomADv4_1_AF_joint_XX=0.447494;gnomADv4_1_AF_joint_XY=0.43912;gnomADv4_1_AN_grpmax_joint=41506;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=16674;gnomADv4_1_nhomalt_joint_XX=8698;gnomADv4_1_nhomalt_joint_XY=7976;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27466230 chr22_27466230_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.745;CADD_Rawscore=0.127882;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762164|||||||||||||||||||||chr22:g.27466230T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=75611;gnomADv4_1_AC_joint_XX=38897;gnomADv4_1_AC_joint_XY=36714;gnomADv4_1_AF_grpmax_joint=0.720242;gnomADv4_1_AF_joint=0.496977;gnomADv4_1_AF_joint_XX=0.500141;gnomADv4_1_AF_joint_XY=0.493667;gnomADv4_1_AN_grpmax_joint=41518;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20716;gnomADv4_1_nhomalt_joint_XX=10738;gnomADv4_1_nhomalt_joint_XY=9978;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27466808 chr22_27466808_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.645;CADD_Rawscore=-0.129369;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5752553|||||||||||||||||||||chr22:g.27466808C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=56987;gnomADv4_1_AC_joint_XX=29352;gnomADv4_1_AC_joint_XY=27635;gnomADv4_1_AF_grpmax_joint=0.559713;gnomADv4_1_AF_joint=0.374796;gnomADv4_1_AF_joint_XX=0.377702;gnomADv4_1_AF_joint_XY=0.371758;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11704;gnomADv4_1_nhomalt_joint_XX=6036;gnomADv4_1_nhomalt_joint_XY=5668;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27466847 chr22_27466847_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.11;CADD_Rawscore=0.009199;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5752554|||||||||||||||||||||chr22:g.27466847C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=22451;gnomADv4_1_AC_joint_XX=11433;gnomADv4_1_AC_joint_XY=11018;gnomADv4_1_AF_grpmax_joint=0.388051;gnomADv4_1_AF_joint=0.147489;gnomADv4_1_AF_joint_XX=0.146965;gnomADv4_1_AF_joint_XY=0.148036;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152222;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2430;gnomADv4_1_nhomalt_joint_XX=1211;gnomADv4_1_nhomalt_joint_XY=1219;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27466913 chr22_27466913_A_G A G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.001;CADD_Rawscore=-2.18483;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5752555|||||||||||||||||||||chr22:g.27466913A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=64457;gnomADv4_1_AC_joint_XX=33047;gnomADv4_1_AC_joint_XY=31410;gnomADv4_1_AF_grpmax_joint=0.70107;gnomADv4_1_AF_joint=0.423647;gnomADv4_1_AF_joint_XX=0.424943;gnomADv4_1_AF_joint_XY=0.422291;gnomADv4_1_AN_grpmax_joint=41498;gnomADv4_1_AN_joint=152148;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=16557;gnomADv4_1_nhomalt_joint_XX=8526;gnomADv4_1_nhomalt_joint_XY=8031;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27466938 chr22_27466938_A_G A G 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.077;CADD_Rawscore=-0.680903;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5752556|||||||||||||||||||||chr22:g.27466938A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=75589;gnomADv4_1_AC_joint_XX=38885;gnomADv4_1_AC_joint_XY=36704;gnomADv4_1_AF_grpmax_joint=0.720062;gnomADv4_1_AF_joint=0.49674;gnomADv4_1_AF_joint_XX=0.499987;gnomADv4_1_AF_joint_XY=0.493347;gnomADv4_1_AN_grpmax_joint=41502;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20700;gnomADv4_1_nhomalt_joint_XX=10734;gnomADv4_1_nhomalt_joint_XY=9966;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27467014 chr22_27467014_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.898;CADD_Rawscore=-0.045437;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762165|||||||||||||||||||||chr22:g.27467014T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37251;gnomADv4_1_AC_joint_XX=19062;gnomADv4_1_AC_joint_XY=18189;gnomADv4_1_AF_grpmax_joint=0.515891;gnomADv4_1_AF_joint=0.244805;gnomADv4_1_AF_joint_XX=0.245126;gnomADv4_1_AF_joint_XY=0.244469;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152166;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5224;gnomADv4_1_nhomalt_joint_XX=2647;gnomADv4_1_nhomalt_joint_XY=2577;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27467071 chr22_27467071_T_C T C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.831;CADD_Rawscore=-0.065463;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762166|||||||||||||||||||||chr22:g.27467071T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=75543;gnomADv4_1_AC_joint_XX=38865;gnomADv4_1_AC_joint_XY=36678;gnomADv4_1_AF_grpmax_joint=0.720169;gnomADv4_1_AF_joint=0.496765;gnomADv4_1_AF_joint_XX=0.499936;gnomADv4_1_AF_joint_XY=0.493448;gnomADv4_1_AN_grpmax_joint=41500;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20689;gnomADv4_1_nhomalt_joint_XX=10726;gnomADv4_1_nhomalt_joint_XY=9963;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27467133 chr22_27467133_A_T A T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.312;CADD_Rawscore=-0.312056;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5752558|||||||||||||||||||||chr22:g.27467133A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=75487;gnomADv4_1_AC_joint_XX=38833;gnomADv4_1_AC_joint_XY=36654;gnomADv4_1_AF_grpmax_joint=0.719974;gnomADv4_1_AF_joint=0.496664;gnomADv4_1_AF_joint_XX=0.499807;gnomADv4_1_AF_joint_XY=0.493377;gnomADv4_1_AN_grpmax_joint=41464;gnomADv4_1_AN_joint=151988;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20664;gnomADv4_1_nhomalt_joint_XX=10713;gnomADv4_1_nhomalt_joint_XY=9951;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27467339 chr22_27467339_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.345;CADD_Rawscore=-0.286468;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5752559|||||||||||||||||||||chr22:g.27467339G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=75498;gnomADv4_1_AC_joint_XX=38843;gnomADv4_1_AC_joint_XY=36655;gnomADv4_1_AF_grpmax_joint=0.720304;gnomADv4_1_AF_joint=0.496756;gnomADv4_1_AF_joint_XX=0.499884;gnomADv4_1_AF_joint_XY=0.493484;gnomADv4_1_AN_grpmax_joint=41470;gnomADv4_1_AN_joint=151982;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20672;gnomADv4_1_nhomalt_joint_XX=10719;gnomADv4_1_nhomalt_joint_XY=9953;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27467733 chr22_27467733_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.961;CADD_Rawscore=-0.028193;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762167|||||||||||||||||||||chr22:g.27467733C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=75680;gnomADv4_1_AC_joint_XX=38921;gnomADv4_1_AC_joint_XY=36759;gnomADv4_1_AF_grpmax_joint=0.720438;gnomADv4_1_AF_joint=0.497738;gnomADv4_1_AF_joint_XX=0.500759;gnomADv4_1_AF_joint_XY=0.494578;gnomADv4_1_AN_grpmax_joint=41472;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20752;gnomADv4_1_nhomalt_joint_XX=10752;gnomADv4_1_nhomalt_joint_XY=10000;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27468014 chr22_27468014_AG_A AG A 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=10.73;CADDIndel_Rawscore=1.03487;CSQ=-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DWCW|open_chromatin_region||||||||||rs11309488|||||||||||||||||||||chr22:g.27468015del|||||||||||||,-|intergenic_variant|MODIFIER|||||||||||||||rs11309488|||||||||||||||||||||chr22:g.27468015del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENSR22_9DWCW,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=22538;gnomADv4_1_AC_joint_XX=11462;gnomADv4_1_AC_joint_XY=11076;gnomADv4_1_AF_grpmax_joint=0.40122;gnomADv4_1_AF_joint=0.148715;gnomADv4_1_AF_joint_XX=0.147969;gnomADv4_1_AF_joint_XY=0.149494;gnomADv4_1_AN_grpmax_joint=5082;gnomADv4_1_AN_joint=151552;gnomADv4_1_AN_joint_XX=77462;gnomADv4_1_AN_joint_XY=74090;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2435;gnomADv4_1_nhomalt_joint_XX=1216;gnomADv4_1_nhomalt_joint_XY=1219;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27468087 chr22_27468087_C_T C T 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=3.318;CADD_Rawscore=0.304181;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DWCW|open_chromatin_region||||||||||rs5762168|||||||||||||||||||||chr22:g.27468087C>T|||||||||||||,T|intergenic_variant|MODIFIER|||||||||||||||rs5762168|||||||||||||||||||||chr22:g.27468087C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENSR22_9DWCW,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=75534;gnomADv4_1_AC_joint_XX=38840;gnomADv4_1_AC_joint_XY=36694;gnomADv4_1_AF_grpmax_joint=0.720519;gnomADv4_1_AF_joint=0.498029;gnomADv4_1_AF_joint_XX=0.500799;gnomADv4_1_AF_joint_XY=0.495129;gnomADv4_1_AN_grpmax_joint=41348;gnomADv4_1_AN_joint=151666;gnomADv4_1_AN_joint_XX=77556;gnomADv4_1_AN_joint_XY=74110;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20672;gnomADv4_1_nhomalt_joint_XX=10714;gnomADv4_1_nhomalt_joint_XY=9958;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27468112 chr22_27468112_G_A G A 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.886;CADD_Rawscore=-0.049098;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DWCW|open_chromatin_region||||||||||rs5762169|||||||||||||||||||||chr22:g.27468112G>A|||||||||||||,A|intergenic_variant|MODIFIER|||||||||||||||rs5762169|||||||||||||||||||||chr22:g.27468112G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENSR22_9DWCW,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=75390;gnomADv4_1_AC_joint_XX=38747;gnomADv4_1_AC_joint_XY=36643;gnomADv4_1_AF_grpmax_joint=0.719905;gnomADv4_1_AF_joint=0.497145;gnomADv4_1_AF_joint_XX=0.499819;gnomADv4_1_AF_joint_XY=0.494347;gnomADv4_1_AN_grpmax_joint=41336;gnomADv4_1_AN_joint=151646;gnomADv4_1_AN_joint_XX=77522;gnomADv4_1_AN_joint_XY=74124;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20608;gnomADv4_1_nhomalt_joint_XX=10669;gnomADv4_1_nhomalt_joint_XY=9939;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27468131 chr22_27468131_TA_T TA T 55 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=0.267;CADDIndel_Rawscore=-0.351973;CSQ=-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DWCW|open_chromatin_region||||||||||rs11340182|||||||||||||||||||||chr22:g.27468142del|||||||||||||,-|intergenic_variant|MODIFIER|||||||||||||||rs11340182|||||||||||||||||||||chr22:g.27468142del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENSR22_9DWCW,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=75399;gnomADv4_1_AC_joint_XX=38772;gnomADv4_1_AC_joint_XY=36627;gnomADv4_1_AF_grpmax_joint=0.719817;gnomADv4_1_AF_joint=0.500338;gnomADv4_1_AF_joint_XX=0.502919;gnomADv4_1_AF_joint_XY=0.497636;gnomADv4_1_AN_grpmax_joint=41248;gnomADv4_1_AN_joint=150696;gnomADv4_1_AN_joint_XX=77094;gnomADv4_1_AN_joint_XY=73602;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20608;gnomADv4_1_nhomalt_joint_XX=10679;gnomADv4_1_nhomalt_joint_XY=9929;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27468133 chr22_27468133_A_T A T 59 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.915;CADD_Rawscore=-0.040717;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DWCW|open_chromatin_region||||||||||rs114462986|||||||||||||||||||||chr22:g.27468133A>T|||||||||||||,T|intergenic_variant|MODIFIER|||||||||||||||rs114462986|||||||||||||||||||||chr22:g.27468133A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENSR22_9DWCW,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=68598;gnomADv4_1_AC_joint_XX=35099;gnomADv4_1_AC_joint_XY=33499;gnomADv4_1_AF_grpmax_joint=0.666213;gnomADv4_1_AF_joint=0.453606;gnomADv4_1_AF_joint_XX=0.453874;gnomADv4_1_AF_joint_XY=0.453326;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=151228;gnomADv4_1_AN_joint_XX=77332;gnomADv4_1_AN_joint_XY=73896;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17342;gnomADv4_1_nhomalt_joint_XX=8920;gnomADv4_1_nhomalt_joint_XY=8422;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27468183 chr22_27468183_A_G A G 55 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.471;CADD_Rawscore=-0.207854;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5762170|||||||||||||||||||||chr22:g.27468183A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=75680;gnomADv4_1_AC_joint_XX=38900;gnomADv4_1_AC_joint_XY=36780;gnomADv4_1_AF_grpmax_joint=0.720123;gnomADv4_1_AF_joint=0.497973;gnomADv4_1_AF_joint_XX=0.500721;gnomADv4_1_AF_joint_XY=0.4951;gnomADv4_1_AN_grpmax_joint=41436;gnomADv4_1_AN_joint=151976;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20753;gnomADv4_1_nhomalt_joint_XX=10744;gnomADv4_1_nhomalt_joint_XY=10009;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27468294 chr22_27468294_T_A T A 30 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADD_PHREDscore=0.508;CADD_Rawscore=-0.189348;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5762171|||||||||||||||||||||chr22:g.27468294T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=68280;gnomADv4_1_AC_joint_XX=34899;gnomADv4_1_AC_joint_XY=33381;gnomADv4_1_AF_grpmax_joint=0.667377;gnomADv4_1_AF_joint=0.449299;gnomADv4_1_AF_joint_XX=0.449289;gnomADv4_1_AF_joint_XY=0.44931;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151970;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17074;gnomADv4_1_nhomalt_joint_XX=8766;gnomADv4_1_nhomalt_joint_XY=8308;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27468479 chr22_27468479_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=9.907;CADD_Rawscore=0.963414;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762172|||||||||||||||||||||chr22:g.27468479C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=74670;gnomADv4_1_AC_joint_XX=38406;gnomADv4_1_AC_joint_XY=36264;gnomADv4_1_AF_grpmax_joint=0.695546;gnomADv4_1_AF_joint=0.490759;gnomADv4_1_AF_joint_XX=0.493841;gnomADv4_1_AF_joint_XY=0.487537;gnomADv4_1_AN_grpmax_joint=41494;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20040;gnomADv4_1_nhomalt_joint_XX=10384;gnomADv4_1_nhomalt_joint_XY=9656;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27468510 chr22_27468510_C_A C A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=9.039;CADD_Rawscore=0.8778;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5762173|||||||||||||||||||||chr22:g.27468510C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=74641;gnomADv4_1_AC_joint_XX=38395;gnomADv4_1_AC_joint_XY=36246;gnomADv4_1_AF_grpmax_joint=0.695354;gnomADv4_1_AF_joint=0.490672;gnomADv4_1_AF_joint_XX=0.493712;gnomADv4_1_AF_joint_XY=0.487492;gnomADv4_1_AN_grpmax_joint=41494;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20023;gnomADv4_1_nhomalt_joint_XX=10377;gnomADv4_1_nhomalt_joint_XY=9646;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27468929 chr22_27468929_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.012;CADD_Rawscore=-1.21205;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs6005455|||||||||||||||||||||chr22:g.27468929C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=74379;gnomADv4_1_AC_joint_XX=38244;gnomADv4_1_AC_joint_XY=36135;gnomADv4_1_AF_grpmax_joint=0.695188;gnomADv4_1_AF_joint=0.489194;gnomADv4_1_AF_joint_XX=0.49215;gnomADv4_1_AF_joint_XY=0.486104;gnomADv4_1_AN_grpmax_joint=41478;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=19908;gnomADv4_1_nhomalt_joint_XX=10304;gnomADv4_1_nhomalt_joint_XY=9604;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27469101 chr22_27469101_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.16;CADD_Rawscore=0.020783;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs6005456|||||||||||||||||||||chr22:g.27469101G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=68792;gnomADv4_1_AC_joint_XX=35475;gnomADv4_1_AC_joint_XY=33317;gnomADv4_1_AF_grpmax_joint=0.681474;gnomADv4_1_AF_joint=0.452799;gnomADv4_1_AF_joint_XX=0.45674;gnomADv4_1_AF_joint_XY=0.448678;gnomADv4_1_AN_grpmax_joint=41422;gnomADv4_1_AN_joint=151926;gnomADv4_1_AN_joint_XX=77670;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17585;gnomADv4_1_nhomalt_joint_XX=9154;gnomADv4_1_nhomalt_joint_XY=8431;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27469383 chr22_27469383_A_C A C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.583;CADD_Rawscore=-0.15481;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762174|||||||||||||||||||||chr22:g.27469383A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=75723;gnomADv4_1_AC_joint_XX=38932;gnomADv4_1_AC_joint_XY=36791;gnomADv4_1_AF_grpmax_joint=0.720368;gnomADv4_1_AF_joint=0.498296;gnomADv4_1_AF_joint_XX=0.500939;gnomADv4_1_AF_joint_XY=0.495528;gnomADv4_1_AN_grpmax_joint=41476;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74246;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20766;gnomADv4_1_nhomalt_joint_XX=10754;gnomADv4_1_nhomalt_joint_XY=10012;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27469451 chr22_27469451_C_T C T 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.089;CADD_Rawscore=0.0043;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs746927254|||||||||||||||||||||chr22:g.27469451C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=149;gnomADv4_1_AC_joint_XX=67;gnomADv4_1_AC_joint_XY=82;gnomADv4_1_AF_grpmax_joint=0.000279256;gnomADv4_1_AF_joint=0.000979297;gnomADv4_1_AF_joint_XX=0.000861005;gnomADv4_1_AF_joint_XY=0.00110313;gnomADv4_1_AN_grpmax_joint=68038;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=3;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27470115 chr22_27470115_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.802;CADD_Rawscore=-0.074525;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs150218762|||||||||||||||||||||chr22:g.27470115G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=403;gnomADv4_1_AC_joint_XX=224;gnomADv4_1_AC_joint_XY=179;gnomADv4_1_AF_grpmax_joint=0.00261575;gnomADv4_1_AF_joint=0.00264554;gnomADv4_1_AF_joint_XX=0.0028777;gnomADv4_1_AF_joint_XY=0.00240294;gnomADv4_1_AN_grpmax_joint=15292;gnomADv4_1_AN_joint=152332;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74492;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=3;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27470558 chr22_27470558_A_AGATG A AGATG 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=1.633;CADDIndel_Rawscore=0.110481;CSQ=GATG|intergenic_variant|MODIFIER|||||||||||||||rs537509188|||||||||||||||||||||chr22:g.27470560_27470563dup|||||||||||||;TYPE=INDEL;VEP_Allele=GATG;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=1479;gnomADv4_1_AC_joint_XX=814;gnomADv4_1_AC_joint_XY=665;gnomADv4_1_AF_grpmax_joint=0.0337079;gnomADv4_1_AF_joint=0.0116635;gnomADv4_1_AF_joint_XX=0.0125196;gnomADv4_1_AF_joint_XY=0.0107626;gnomADv4_1_AN_grpmax_joint=178;gnomADv4_1_AN_joint=126806;gnomADv4_1_AN_joint_XX=65018;gnomADv4_1_AN_joint_XY=61788;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9;gnomADv4_1_nhomalt_joint_XX=5;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27473056 chr22_27473056_A_G A G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=18.23;CADD_Rawscore=2.3255;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4822885|||||||||||||||||||||chr22:g.27473056A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=77692;gnomADv4_1_AC_joint_XX=39947;gnomADv4_1_AC_joint_XY=37745;gnomADv4_1_AF_grpmax_joint=0.749687;gnomADv4_1_AF_joint=0.510655;gnomADv4_1_AF_joint_XX=0.513616;gnomADv4_1_AF_joint_XY=0.507557;gnomADv4_1_AN_grpmax_joint=41516;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22021;gnomADv4_1_nhomalt_joint_XX=11396;gnomADv4_1_nhomalt_joint_XY=10625;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27473157 chr22_27473157_A_G A G 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.316;CADD_Rawscore=-0.308852;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4822886|||||||||||||||||||||chr22:g.27473157A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=82137;gnomADv4_1_AC_joint_XX=42084;gnomADv4_1_AC_joint_XY=40053;gnomADv4_1_AF_grpmax_joint=0.775218;gnomADv4_1_AF_joint=0.539984;gnomADv4_1_AF_joint_XX=0.541148;gnomADv4_1_AF_joint_XY=0.538767;gnomADv4_1_AN_grpmax_joint=41498;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24398;gnomADv4_1_nhomalt_joint_XX=12482;gnomADv4_1_nhomalt_joint_XY=11916;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27473231 chr22_27473231_T_C T C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.297;CADD_Rawscore=-0.324395;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4822887|||||||||||||||||||||chr22:g.27473231T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=76238;gnomADv4_1_AC_joint_XX=39110;gnomADv4_1_AC_joint_XY=37128;gnomADv4_1_AF_grpmax_joint=0.741881;gnomADv4_1_AF_joint=0.501533;gnomADv4_1_AF_joint_XX=0.503307;gnomADv4_1_AF_joint_XY=0.499677;gnomADv4_1_AN_grpmax_joint=41446;gnomADv4_1_AN_joint=152010;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=21419;gnomADv4_1_nhomalt_joint_XX=11013;gnomADv4_1_nhomalt_joint_XY=10406;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27474304 chr22_27474304_A_G A G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.14;CADD_Rawscore=-0.521507;CSQ=G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7G7S|enhancer||||||||||rs9625241|||||||||||||||||||||chr22:g.27474304A>G|||||||||||||,G|intergenic_variant|MODIFIER|||||||||||||||rs9625241|||||||||||||||||||||chr22:g.27474304A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENSR22_B7G7S,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=19718;gnomADv4_1_AC_joint_XX=10243;gnomADv4_1_AC_joint_XY=9475;gnomADv4_1_AF_grpmax_joint=0.187075;gnomADv4_1_AF_joint=0.129528;gnomADv4_1_AF_joint_XX=0.131668;gnomADv4_1_AF_joint_XY=0.127291;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152230;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1631;gnomADv4_1_nhomalt_joint_XX=861;gnomADv4_1_nhomalt_joint_XY=770;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27474578 chr22_27474578_G_A G A 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.974;CADD_Rawscore=-0.024643;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs2146016008&rs866697966|||||||||||||||||||||chr22:g.27474578G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=265;gnomADv4_1_AC_joint_XX=149;gnomADv4_1_AC_joint_XY=116;gnomADv4_1_AF_grpmax_joint=0.00130822;gnomADv4_1_AF_joint=0.00174198;gnomADv4_1_AF_joint_XX=0.00191625;gnomADv4_1_AF_joint_XY=0.00155977;gnomADv4_1_AN_grpmax_joint=15288;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=3;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27476069 chr22_27476069_A_G A G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.027;CADD_Rawscore=-0.010827;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs761598|||||||||||||||||||||chr22:g.27476069A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=95133;gnomADv4_1_AC_joint_XX=48805;gnomADv4_1_AC_joint_XY=46328;gnomADv4_1_AF_grpmax_joint=0.821776;gnomADv4_1_AF_joint=0.62534;gnomADv4_1_AF_joint_XX=0.627507;gnomADv4_1_AF_joint_XY=0.623073;gnomADv4_1_AN_grpmax_joint=41532;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31341;gnomADv4_1_nhomalt_joint_XX=16081;gnomADv4_1_nhomalt_joint_XY=15260;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27476502 chr22_27476502_C_T C T 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADD_PHREDscore=2.165;CADD_Rawscore=0.185025;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs13053864|||||||||||||||||||||chr22:g.27476502C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=44339;gnomADv4_1_AC_joint_XX=22480;gnomADv4_1_AC_joint_XY=21859;gnomADv4_1_AF_grpmax_joint=0.372671;gnomADv4_1_AF_joint=0.291623;gnomADv4_1_AF_joint_XX=0.289206;gnomADv4_1_AF_joint_XY=0.294152;gnomADv4_1_AN_grpmax_joint=67942;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7540;gnomADv4_1_nhomalt_joint_XX=3738;gnomADv4_1_nhomalt_joint_XY=3802;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27477392 chr22_27477392_G_C G C 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.897;CADD_Rawscore=-0.04591;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs10222213|||||||||||||||||||||chr22:g.27477392G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=45573;gnomADv4_1_AC_joint_XX=23365;gnomADv4_1_AC_joint_XY=22208;gnomADv4_1_AF_grpmax_joint=0.402922;gnomADv4_1_AF_joint=0.299523;gnomADv4_1_AF_joint_XX=0.300484;gnomADv4_1_AF_joint_XY=0.298519;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8109;gnomADv4_1_nhomalt_joint_XX=4142;gnomADv4_1_nhomalt_joint_XY=3967;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27478198 chr22_27478198_T_C T C 36 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.269;CADD_Rawscore=-0.35033;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5752561|||||||||||||||||||||chr22:g.27478198T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=149177;gnomADv4_1_AC_joint_XX=76116;gnomADv4_1_AC_joint_XY=73061;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.994832;gnomADv4_1_AF_joint_XX=0.994512;gnomADv4_1_AF_joint_XY=0.995165;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=149952;gnomADv4_1_AN_joint_XX=76536;gnomADv4_1_AN_joint_XY=73416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=74201;gnomADv4_1_nhomalt_joint_XX=37848;gnomADv4_1_nhomalt_joint_XY=36353;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27478231 chr22_27478231_ATTGGT_A;chr22_27478231_A_ATTGGTTTGGT ATTGGT A 23 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=23;CADDIndel_PHREDscore=1.786;CADDIndel_Rawscore=0.134006;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs796133027|||||||||||||||||||||chr22:g.27478276_27478280del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37440;gnomADv4_1_AC_joint_XX=19353;gnomADv4_1_AC_joint_XY=18087;gnomADv4_1_AF_grpmax_joint=0.355398;gnomADv4_1_AF_joint=0.281792;gnomADv4_1_AF_joint_XX=0.282493;gnomADv4_1_AF_joint_XY=0.281046;gnomADv4_1_AN_grpmax_joint=60822;gnomADv4_1_AN_joint=132864;gnomADv4_1_AN_joint_XX=68508;gnomADv4_1_AN_joint_XY=64356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4111;gnomADv4_1_nhomalt_joint_XX=2049;gnomADv4_1_nhomalt_joint_XY=2062;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27478231 chr22_27478231_ATTGGT_A;chr22_27478231_A_ATTGGTTTGGT A ATTGGTTTGGT 23 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADDIndel_PHREDscore=1.76;CADDIndel_Rawscore=0.130152;CSQ=TTGGTTTGGT|intergenic_variant|MODIFIER|||||||||||||||rs796133027|||||||||||||||||||||chr22:g.27478271_27478280dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTGGTTTGGT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=680;gnomADv4_1_AC_joint_XX=365;gnomADv4_1_AC_joint_XY=315;gnomADv4_1_AF_grpmax_joint=0.00595044;gnomADv4_1_AF_joint=0.00508107;gnomADv4_1_AF_joint_XX=0.00528771;gnomADv4_1_AF_joint_XY=0.00486096;gnomADv4_1_AN_grpmax_joint=61340;gnomADv4_1_AN_joint=133830;gnomADv4_1_AN_joint_XX=69028;gnomADv4_1_AN_joint_XY=64802;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=6;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27478426 chr22_27478426_T_G T G 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=11;CADD_PHREDscore=4.853;CADD_Rawscore=0.442135;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs146301952|||||||||||||||||||||chr22:g.27478426T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33737;gnomADv4_1_AC_joint_XX=17360;gnomADv4_1_AC_joint_XY=16377;gnomADv4_1_AF_grpmax_joint=0.358483;gnomADv4_1_AF_joint=0.258244;gnomADv4_1_AF_joint_XX=0.259422;gnomADv4_1_AF_joint_XY=0.257007;gnomADv4_1_AN_grpmax_joint=57152;gnomADv4_1_AN_joint=130640;gnomADv4_1_AN_joint_XX=66918;gnomADv4_1_AN_joint_XY=63722;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5686;gnomADv4_1_nhomalt_joint_XX=2894;gnomADv4_1_nhomalt_joint_XY=2792;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27478526 chr22_27478526_A_T A T 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADD_PHREDscore=0.591;CADD_Rawscore=-0.151172;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs28585506|||||||||||||||||||||chr22:g.27478526A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=5144;gnomADv4_1_AC_joint_XX=2749;gnomADv4_1_AC_joint_XY=2395;gnomADv4_1_AF_grpmax_joint=0.0766197;gnomADv4_1_AF_joint=0.0640694;gnomADv4_1_AF_joint_XX=0.0648074;gnomADv4_1_AF_joint_XY=0.0632427;gnomADv4_1_AN_grpmax_joint=39050;gnomADv4_1_AN_joint=80288;gnomADv4_1_AN_joint_XX=42418;gnomADv4_1_AN_joint_XY=37870;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=357;gnomADv4_1_nhomalt_joint_XX=169;gnomADv4_1_nhomalt_joint_XY=188;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27478588 chr22_27478588_A_AT A AT 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=19;CADDIndel_PHREDscore=1.466;CADDIndel_Rawscore=0.082154;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs35160380|||||||||||||||||||||chr22:g.27478609dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=10926;gnomADv4_1_AC_joint_XX=6153;gnomADv4_1_AC_joint_XY=4773;gnomADv4_1_AF_grpmax_joint=0.244423;gnomADv4_1_AF_joint=0.166225;gnomADv4_1_AF_joint_XX=0.1757;gnomADv4_1_AF_joint_XY=0.155422;gnomADv4_1_AN_grpmax_joint=31830;gnomADv4_1_AN_joint=65730;gnomADv4_1_AN_joint_XX=35020;gnomADv4_1_AN_joint_XY=30710;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2773;gnomADv4_1_nhomalt_joint_XX=1578;gnomADv4_1_nhomalt_joint_XY=1195;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27479371 chr22_27479371_C_A C A 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.267;CADD_Rawscore=-0.351798;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs1474816|||||||||||||||||||||chr22:g.27479371C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=74324;gnomADv4_1_AC_joint_XX=38398;gnomADv4_1_AC_joint_XY=35926;gnomADv4_1_AF_grpmax_joint=0.567552;gnomADv4_1_AF_joint=0.489212;gnomADv4_1_AF_joint_XX=0.494539;gnomADv4_1_AF_joint_XY=0.483643;gnomADv4_1_AN_grpmax_joint=67918;gnomADv4_1_AN_joint=151926;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=18972;gnomADv4_1_nhomalt_joint_XX=9839;gnomADv4_1_nhomalt_joint_XY=9133;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27479399 chr22_27479399_G_C G C 63 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=63;CADD_PHREDscore=0.786;CADD_Rawscore=-0.079751;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4239929|||||||||||||||||||||chr22:g.27479399G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=138128;gnomADv4_1_AC_joint_XX=70709;gnomADv4_1_AC_joint_XY=67419;gnomADv4_1_AF_grpmax_joint=0.969304;gnomADv4_1_AF_joint=0.907889;gnomADv4_1_AF_joint_XX=0.909534;gnomADv4_1_AF_joint_XY=0.906169;gnomADv4_1_AN_grpmax_joint=68022;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=63142;gnomADv4_1_nhomalt_joint_XX=32385;gnomADv4_1_nhomalt_joint_XY=30757;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27480190 chr22_27480190_G_T G T 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.059;CADD_Rawscore=-0.753241;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762179|||||||||||||||||||||chr22:g.27480190G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=127777;gnomADv4_1_AC_joint_XX=65192;gnomADv4_1_AC_joint_XY=62585;gnomADv4_1_AF_grpmax_joint=0.919396;gnomADv4_1_AF_joint=0.839721;gnomADv4_1_AF_joint_XX=0.83831;gnomADv4_1_AF_joint_XY=0.841196;gnomADv4_1_AN_grpmax_joint=68024;gnomADv4_1_AN_joint=152166;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=54569;gnomADv4_1_nhomalt_joint_XX=27791;gnomADv4_1_nhomalt_joint_XY=26778;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27480792 chr22_27480792_T_C T C 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=11.24;CADD_Rawscore=1.08561;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DWHK|enhancer||||||||||rs7292029|||||||||||||||||||||chr22:g.27480792T>C|||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs7292029|||||||||||||||||||||chr22:g.27480792T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENSR22_9DWHK,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=15118;gnomADv4_1_AC_joint_XX=7444;gnomADv4_1_AC_joint_XY=7674;gnomADv4_1_AF_grpmax_joint=0.154022;gnomADv4_1_AF_joint=0.0992829;gnomADv4_1_AF_joint_XX=0.0956689;gnomADv4_1_AF_joint_XY=0.103059;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152272;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1019;gnomADv4_1_nhomalt_joint_XX=491;gnomADv4_1_nhomalt_joint_XY=528;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27480854 chr22_27480854_A_G A G 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.261;CADD_Rawscore=-0.357574;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5752562|||||||||||||||||||||chr22:g.27480854A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=60956;gnomADv4_1_AC_joint_XX=31102;gnomADv4_1_AC_joint_XY=29854;gnomADv4_1_AF_grpmax_joint=0.545662;gnomADv4_1_AF_joint=0.400916;gnomADv4_1_AF_joint_XX=0.40017;gnomADv4_1_AF_joint_XY=0.401695;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=12635;gnomADv4_1_nhomalt_joint_XX=6364;gnomADv4_1_nhomalt_joint_XY=6271;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27480978 chr22_27480978_T_C T C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.302;CADD_Rawscore=0.050941;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762182|||||||||||||||||||||chr22:g.27480978T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=61070;gnomADv4_1_AC_joint_XX=31163;gnomADv4_1_AC_joint_XY=29907;gnomADv4_1_AF_grpmax_joint=0.547797;gnomADv4_1_AF_joint=0.401723;gnomADv4_1_AF_joint_XX=0.400903;gnomADv4_1_AF_joint_XY=0.402582;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=12683;gnomADv4_1_nhomalt_joint_XX=6391;gnomADv4_1_nhomalt_joint_XY=6292;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27481011 chr22_27481011_A_G A G 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.146;CADD_Rawscore=-0.510814;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5762183|||||||||||||||||||||chr22:g.27481011A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=60947;gnomADv4_1_AC_joint_XX=31095;gnomADv4_1_AC_joint_XY=29852;gnomADv4_1_AF_grpmax_joint=0.545946;gnomADv4_1_AF_joint=0.400925;gnomADv4_1_AF_joint_XX=0.400152;gnomADv4_1_AF_joint_XY=0.401733;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=152016;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=12628;gnomADv4_1_nhomalt_joint_XX=6361;gnomADv4_1_nhomalt_joint_XY=6267;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27481337 chr22_27481337_A_G A G 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.614;CADD_Rawscore=0.235855;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5762185|||||||||||||||||||||chr22:g.27481337A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=139787;gnomADv4_1_AC_joint_XX=71181;gnomADv4_1_AC_joint_XY=68606;gnomADv4_1_AF_grpmax_joint=0.999806;gnomADv4_1_AF_joint=0.918636;gnomADv4_1_AF_joint_XX=0.915088;gnomADv4_1_AF_joint_XY=0.922347;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152168;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64606;gnomADv4_1_nhomalt_joint_XX=32757;gnomADv4_1_nhomalt_joint_XY=31849;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27481723 chr22_27481723_T_C T C 59 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.117;CADD_Rawscore=0.010902;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762186|||||||||||||||||||||chr22:g.27481723T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=47827;gnomADv4_1_AC_joint_XX=24501;gnomADv4_1_AC_joint_XY=23326;gnomADv4_1_AF_grpmax_joint=0.409411;gnomADv4_1_AF_joint=0.314614;gnomADv4_1_AF_joint_XX=0.315174;gnomADv4_1_AF_joint_XY=0.314028;gnomADv4_1_AN_grpmax_joint=67922;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8625;gnomADv4_1_nhomalt_joint_XX=4410;gnomADv4_1_nhomalt_joint_XY=4215;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27482535 chr22_27482535_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.708;CADD_Rawscore=0.122244;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs6005463|||||||||||||||||||||chr22:g.27482535A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=149356;gnomADv4_1_AC_joint_XX=76273;gnomADv4_1_AC_joint_XY=73083;gnomADv4_1_AF_grpmax_joint=0.999807;gnomADv4_1_AF_joint=0.980824;gnomADv4_1_AF_joint_XX=0.980121;gnomADv4_1_AF_joint_XY=0.98156;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152276;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73309;gnomADv4_1_nhomalt_joint_XX=37403;gnomADv4_1_nhomalt_joint_XY=35906;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27482658 chr22_27482658_G_A G A 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.967;CADD_Rawscore=-0.026373;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs12484788|||||||||||||||||||||chr22:g.27482658G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43742;gnomADv4_1_AC_joint_XX=22196;gnomADv4_1_AC_joint_XY=21546;gnomADv4_1_AF_grpmax_joint=0.348938;gnomADv4_1_AF_joint=0.287716;gnomADv4_1_AF_joint_XX=0.285538;gnomADv4_1_AF_joint_XY=0.289994;gnomADv4_1_AN_grpmax_joint=67972;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6979;gnomADv4_1_nhomalt_joint_XX=3457;gnomADv4_1_nhomalt_joint_XY=3522;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27483122 chr22_27483122_A_G A G 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.016;CADD_Rawscore=-1.11739;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs926838|||||||||||||||||||||chr22:g.27483122A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=142402;gnomADv4_1_AC_joint_XX=72728;gnomADv4_1_AC_joint_XY=69674;gnomADv4_1_AF_grpmax_joint=0.968792;gnomADv4_1_AF_joint=0.93587;gnomADv4_1_AF_joint_XX=0.934999;gnomADv4_1_AF_joint_XY=0.936781;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=66793;gnomADv4_1_nhomalt_joint_XX=34081;gnomADv4_1_nhomalt_joint_XY=32712;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27483209 chr22_27483209_C_T C T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.49;CADD_Rawscore=-0.198125;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs926837|||||||||||||||||||||chr22:g.27483209C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=90832;gnomADv4_1_AC_joint_XX=46306;gnomADv4_1_AC_joint_XY=44526;gnomADv4_1_AF_grpmax_joint=0.758571;gnomADv4_1_AF_joint=0.597673;gnomADv4_1_AF_joint_XX=0.595974;gnomADv4_1_AF_joint_XY=0.599451;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=151976;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=30404;gnomADv4_1_nhomalt_joint_XX=15474;gnomADv4_1_nhomalt_joint_XY=14930;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27484246 chr22_27484246_G_A G A 22 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=22;CADD_PHREDscore=0.547;CADD_Rawscore=-0.170762;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs11704334|||||||||||||||||||||chr22:g.27484246G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38971;gnomADv4_1_AC_joint_XX=19966;gnomADv4_1_AC_joint_XY=19005;gnomADv4_1_AF_grpmax_joint=0.327646;gnomADv4_1_AF_joint=0.256398;gnomADv4_1_AF_joint_XX=0.256923;gnomADv4_1_AF_joint_XY=0.255849;gnomADv4_1_AN_grpmax_joint=67930;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5606;gnomADv4_1_nhomalt_joint_XX=2817;gnomADv4_1_nhomalt_joint_XY=2789;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27484349 chr22_27484349_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.316;CADD_Rawscore=0.304002;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762187|||||||||||||||||||||chr22:g.27484349T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=83628;gnomADv4_1_AC_joint_XX=42647;gnomADv4_1_AC_joint_XY=40981;gnomADv4_1_AF_grpmax_joint=0.706748;gnomADv4_1_AF_joint=0.552386;gnomADv4_1_AF_joint_XX=0.550412;gnomADv4_1_AF_joint_XY=0.554457;gnomADv4_1_AN_grpmax_joint=67846;gnomADv4_1_AN_joint=151394;gnomADv4_1_AN_joint_XX=77482;gnomADv4_1_AN_joint_XY=73912;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26035;gnomADv4_1_nhomalt_joint_XX=13222;gnomADv4_1_nhomalt_joint_XY=12813;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27484529 chr22_27484529_C_A C A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.134;CADD_Rawscore=0.377162;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs9625243|||||||||||||||||||||chr22:g.27484529C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=83277;gnomADv4_1_AC_joint_XX=42453;gnomADv4_1_AC_joint_XY=40824;gnomADv4_1_AF_grpmax_joint=0.703914;gnomADv4_1_AF_joint=0.550599;gnomADv4_1_AF_joint_XX=0.548871;gnomADv4_1_AF_joint_XY=0.552407;gnomADv4_1_AN_grpmax_joint=67754;gnomADv4_1_AN_joint=151248;gnomADv4_1_AN_joint_XX=77346;gnomADv4_1_AN_joint_XY=73902;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25781;gnomADv4_1_nhomalt_joint_XX=13098;gnomADv4_1_nhomalt_joint_XY=12683;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27484540 chr22_27484540_A_T A T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=4.487;CADD_Rawscore=0.408699;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs12170273|||||||||||||||||||||chr22:g.27484540A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=83303;gnomADv4_1_AC_joint_XX=42464;gnomADv4_1_AC_joint_XY=40839;gnomADv4_1_AF_grpmax_joint=0.704331;gnomADv4_1_AF_joint=0.550327;gnomADv4_1_AF_joint_XX=0.548531;gnomADv4_1_AF_joint_XY=0.552207;gnomADv4_1_AN_grpmax_joint=67748;gnomADv4_1_AN_joint=151370;gnomADv4_1_AN_joint_XX=77414;gnomADv4_1_AN_joint_XY=73956;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25809;gnomADv4_1_nhomalt_joint_XX=13112;gnomADv4_1_nhomalt_joint_XY=12697;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27484652 chr22_27484652_A_ATTTT;chr22_27484652_A_ATTT A ATTTT 21 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=21;CADDIndel_PHREDscore=1.306;CADDIndel_Rawscore=0.051873;CSQ=TTTT|intergenic_variant|MODIFIER|||||||||||||||rs36024327|||||||||||||||||||||chr22:g.27484670_27484673dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=24319;gnomADv4_1_AC_joint_XX=13665;gnomADv4_1_AC_joint_XY=10654;gnomADv4_1_AF_grpmax_joint=0.331255;gnomADv4_1_AF_joint=0.280943;gnomADv4_1_AF_joint_XX=0.28353;gnomADv4_1_AF_joint_XY=0.277694;gnomADv4_1_AN_grpmax_joint=50040;gnomADv4_1_AN_joint=86562;gnomADv4_1_AN_joint_XX=48196;gnomADv4_1_AN_joint_XY=38366;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5235;gnomADv4_1_nhomalt_joint_XX=2949;gnomADv4_1_nhomalt_joint_XY=2286;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27484652 chr22_27484652_A_ATTTT;chr22_27484652_A_ATTT A ATTT 21 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=10;CADDIndel_PHREDscore=1.33;CADDIndel_Rawscore=0.056521;CSQ=TTT|intergenic_variant|MODIFIER|||||||||||||||rs36024327|||||||||||||||||||||chr22:g.27484671_27484673dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=21585;gnomADv4_1_AC_joint_XX=12175;gnomADv4_1_AC_joint_XY=9410;gnomADv4_1_AF_grpmax_joint=0.314241;gnomADv4_1_AF_joint=0.249267;gnomADv4_1_AF_joint_XX=0.252572;gnomADv4_1_AF_joint_XY=0.245116;gnomADv4_1_AN_grpmax_joint=49968;gnomADv4_1_AN_joint=86594;gnomADv4_1_AN_joint_XX=48204;gnomADv4_1_AN_joint_XY=38390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4333;gnomADv4_1_nhomalt_joint_XX=2436;gnomADv4_1_nhomalt_joint_XY=1897;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27484693 chr22_27484693_T_C T C 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=3.002;CADD_Rawscore=0.274622;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs35490334|||||||||||||||||||||chr22:g.27484693T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=71058;gnomADv4_1_AC_joint_XX=37685;gnomADv4_1_AC_joint_XY=33373;gnomADv4_1_AF_grpmax_joint=0.706906;gnomADv4_1_AF_joint=0.570674;gnomADv4_1_AF_joint_XX=0.572947;gnomADv4_1_AF_joint_XY=0.568128;gnomADv4_1_AN_grpmax_joint=63048;gnomADv4_1_AN_joint=124516;gnomADv4_1_AN_joint_XX=65774;gnomADv4_1_AN_joint_XY=58742;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=22381;gnomADv4_1_nhomalt_joint_XX=11848;gnomADv4_1_nhomalt_joint_XY=10533;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27484859 chr22_27484859_A_G A G 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.584;CADD_Rawscore=-0.154463;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs62235443|||||||||||||||||||||chr22:g.27484859A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=78953;gnomADv4_1_AC_joint_XX=41046;gnomADv4_1_AC_joint_XY=37907;gnomADv4_1_AF_grpmax_joint=0.704396;gnomADv4_1_AF_joint=0.552382;gnomADv4_1_AF_joint_XX=0.552823;gnomADv4_1_AF_joint_XY=0.551904;gnomADv4_1_AN_grpmax_joint=66738;gnomADv4_1_AN_joint=142932;gnomADv4_1_AN_joint_XX=74248;gnomADv4_1_AN_joint_XY=68684;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=24529;gnomADv4_1_nhomalt_joint_XX=12732;gnomADv4_1_nhomalt_joint_XY=11797;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27484864 chr22_27484864_AG_A AG A 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.906;CADDIndel_Rawscore=-0.043181;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs143832460|||||||||||||||||||||chr22:g.27484865del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=78461;gnomADv4_1_AC_joint_XX=40884;gnomADv4_1_AC_joint_XY=37577;gnomADv4_1_AF_grpmax_joint=0.704666;gnomADv4_1_AF_joint=0.552099;gnomADv4_1_AF_joint_XX=0.553249;gnomADv4_1_AF_joint_XY=0.550853;gnomADv4_1_AN_grpmax_joint=66616;gnomADv4_1_AN_joint=142114;gnomADv4_1_AN_joint_XX=73898;gnomADv4_1_AN_joint_XY=68216;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=24382;gnomADv4_1_nhomalt_joint_XX=12694;gnomADv4_1_nhomalt_joint_XY=11688;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27484916 chr22_27484916_CT_C;chr22_27484916_CTT_C CT C 24 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=13;CADDIndel_PHREDscore=0.266;CADDIndel_Rawscore=-0.35243;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs58463814|||||||||||||||||||||chr22:g.27484943del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=11480;gnomADv4_1_AC_joint_XX=6642;gnomADv4_1_AC_joint_XY=4838;gnomADv4_1_AF_grpmax_joint=0.234894;gnomADv4_1_AF_joint=0.211792;gnomADv4_1_AF_joint_XX=0.221888;gnomADv4_1_AF_joint_XY=0.199341;gnomADv4_1_AN_grpmax_joint=1324;gnomADv4_1_AN_joint=54204;gnomADv4_1_AN_joint_XX=29934;gnomADv4_1_AN_joint_XY=24270;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=197;gnomADv4_1_nhomalt_joint_XX=107;gnomADv4_1_nhomalt_joint_XY=90;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27484916 chr22_27484916_CT_C;chr22_27484916_CTT_C CTT C 24 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=24;CADDIndel_PHREDscore=0.402;CADDIndel_Rawscore=-0.247763;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs58463814|||||||||||||||||||||chr22:g.27484942_27484943del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=2494;gnomADv4_1_AC_joint_XX=1485;gnomADv4_1_AC_joint_XY=1009;gnomADv4_1_AF_grpmax_joint=0.0722892;gnomADv4_1_AF_joint=0.0460148;gnomADv4_1_AF_joint_XX=0.0495826;gnomADv4_1_AF_joint_XY=0.0416082;gnomADv4_1_AN_grpmax_joint=1328;gnomADv4_1_AN_joint=54200;gnomADv4_1_AN_joint_XX=29950;gnomADv4_1_AN_joint_XY=24250;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17;gnomADv4_1_nhomalt_joint_XX=10;gnomADv4_1_nhomalt_joint_XY=7;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27484963 chr22_27484963_C_T C T 41 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.855;CADD_Rawscore=0.260333;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs67798809|||||||||||||||||||||chr22:g.27484963C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=69591;gnomADv4_1_AC_joint_XX=37334;gnomADv4_1_AC_joint_XY=32257;gnomADv4_1_AF_grpmax_joint=0.703986;gnomADv4_1_AF_joint=0.553302;gnomADv4_1_AF_joint_XX=0.558257;gnomADv4_1_AF_joint_XY=0.547676;gnomADv4_1_AN_grpmax_joint=62916;gnomADv4_1_AN_joint=125774;gnomADv4_1_AN_joint_XX=66876;gnomADv4_1_AN_joint_XY=58898;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=21739;gnomADv4_1_nhomalt_joint_XX=11699;gnomADv4_1_nhomalt_joint_XY=10040;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27484975 chr22_27484975_G_C G C 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=6.733;CADD_Rawscore=0.629407;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs73160515|||||||||||||||||||||chr22:g.27484975G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=29053;gnomADv4_1_AC_joint_XX=15530;gnomADv4_1_AC_joint_XY=13523;gnomADv4_1_AF_grpmax_joint=0.313835;gnomADv4_1_AF_joint=0.22107;gnomADv4_1_AF_joint_XX=0.224643;gnomADv4_1_AF_joint_XY=0.217104;gnomADv4_1_AN_grpmax_joint=64330;gnomADv4_1_AN_joint=131420;gnomADv4_1_AN_joint_XX=69132;gnomADv4_1_AN_joint_XY=62288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4196;gnomADv4_1_nhomalt_joint_XX=2230;gnomADv4_1_nhomalt_joint_XY=1966;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27485052 chr22_27485052_G_A G A 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.931;CADD_Rawscore=0.154628;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5762188|||||||||||||||||||||chr22:g.27485052G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=82889;gnomADv4_1_AC_joint_XX=42331;gnomADv4_1_AC_joint_XY=40558;gnomADv4_1_AF_grpmax_joint=0.705174;gnomADv4_1_AF_joint=0.553723;gnomADv4_1_AF_joint_XX=0.551932;gnomADv4_1_AF_joint_XY=0.555604;gnomADv4_1_AN_grpmax_joint=67606;gnomADv4_1_AN_joint=149694;gnomADv4_1_AN_joint_XX=76696;gnomADv4_1_AN_joint_XY=72998;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25754;gnomADv4_1_nhomalt_joint_XX=13108;gnomADv4_1_nhomalt_joint_XY=12646;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27485235 chr22_27485235_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.073;CADD_Rawscore=0.000498;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5752565|||||||||||||||||||||chr22:g.27485235T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=83742;gnomADv4_1_AC_joint_XX=42679;gnomADv4_1_AC_joint_XY=41063;gnomADv4_1_AF_grpmax_joint=0.70478;gnomADv4_1_AF_joint=0.551203;gnomADv4_1_AF_joint_XX=0.549194;gnomADv4_1_AF_joint_XY=0.553305;gnomADv4_1_AN_grpmax_joint=67946;gnomADv4_1_AN_joint=151926;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25996;gnomADv4_1_nhomalt_joint_XX=13202;gnomADv4_1_nhomalt_joint_XY=12794;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27485250 chr22_27485250_C_T C T 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=5.027;CADD_Rawscore=0.458387;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs74507676|||||||||||||||||||||chr22:g.27485250C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37376;gnomADv4_1_AC_joint_XX=18941;gnomADv4_1_AC_joint_XY=18435;gnomADv4_1_AF_grpmax_joint=0.336873;gnomADv4_1_AF_joint=0.246814;gnomADv4_1_AF_joint_XX=0.244425;gnomADv4_1_AF_joint_XY=0.249317;gnomADv4_1_AN_grpmax_joint=67800;gnomADv4_1_AN_joint=151434;gnomADv4_1_AN_joint_XX=77492;gnomADv4_1_AN_joint_XY=73942;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5635;gnomADv4_1_nhomalt_joint_XX=2776;gnomADv4_1_nhomalt_joint_XY=2859;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27485251 chr22_27485251_C_G C G 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=2.052;CADD_Rawscore=0.170732;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5752566|||||||||||||||||||||chr22:g.27485251C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=83587;gnomADv4_1_AC_joint_XX=42612;gnomADv4_1_AC_joint_XY=40975;gnomADv4_1_AF_grpmax_joint=0.704751;gnomADv4_1_AF_joint=0.551271;gnomADv4_1_AF_joint_XX=0.549464;gnomADv4_1_AF_joint_XY=0.553163;gnomADv4_1_AN_grpmax_joint=67858;gnomADv4_1_AN_joint=151626;gnomADv4_1_AN_joint_XX=77552;gnomADv4_1_AN_joint_XY=74074;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25931;gnomADv4_1_nhomalt_joint_XX=13175;gnomADv4_1_nhomalt_joint_XY=12756;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27485416 chr22_27485416_A_T A T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.702;CADD_Rawscore=-0.108112;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762189|||||||||||||||||||||chr22:g.27485416A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=83775;gnomADv4_1_AC_joint_XX=42665;gnomADv4_1_AC_joint_XY=41110;gnomADv4_1_AF_grpmax_joint=0.705055;gnomADv4_1_AF_joint=0.551267;gnomADv4_1_AF_joint_XX=0.549226;gnomADv4_1_AF_joint_XY=0.553402;gnomADv4_1_AN_grpmax_joint=67972;gnomADv4_1_AN_joint=151968;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26026;gnomADv4_1_nhomalt_joint_XX=13208;gnomADv4_1_nhomalt_joint_XY=12818;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27485491 chr22_27485491_G_A G A 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=4.722;CADD_Rawscore=0.430069;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs9613455|||||||||||||||||||||chr22:g.27485491G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38952;gnomADv4_1_AC_joint_XX=19767;gnomADv4_1_AC_joint_XY=19185;gnomADv4_1_AF_grpmax_joint=0.338022;gnomADv4_1_AF_joint=0.256287;gnomADv4_1_AF_joint_XX=0.254428;gnomADv4_1_AF_joint_XY=0.258231;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5841;gnomADv4_1_nhomalt_joint_XX=2883;gnomADv4_1_nhomalt_joint_XY=2958;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27485844 chr22_27485844_T_A T A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.891;CADD_Rawscore=0.149107;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs1474815|||||||||||||||||||||chr22:g.27485844T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=83814;gnomADv4_1_AC_joint_XX=42675;gnomADv4_1_AC_joint_XY=41139;gnomADv4_1_AF_grpmax_joint=0.705048;gnomADv4_1_AF_joint=0.551009;gnomADv4_1_AF_joint_XX=0.548917;gnomADv4_1_AF_joint_XY=0.553196;gnomADv4_1_AN_grpmax_joint=67994;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26037;gnomADv4_1_nhomalt_joint_XX=13209;gnomADv4_1_nhomalt_joint_XY=12828;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27485882 chr22_27485882_A_G A G 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.395;CADD_Rawscore=0.311205;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs1474814|||||||||||||||||||||chr22:g.27485882A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=83791;gnomADv4_1_AC_joint_XX=42667;gnomADv4_1_AC_joint_XY=41124;gnomADv4_1_AF_grpmax_joint=0.705083;gnomADv4_1_AF_joint=0.551141;gnomADv4_1_AF_joint_XX=0.549026;gnomADv4_1_AF_joint_XY=0.553352;gnomADv4_1_AN_grpmax_joint=67992;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26024;gnomADv4_1_nhomalt_joint_XX=13202;gnomADv4_1_nhomalt_joint_XY=12822;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27485924 chr22_27485924_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.795;CADD_Rawscore=-0.076762;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs1474813|||||||||||||||||||||chr22:g.27485924C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=83712;gnomADv4_1_AC_joint_XX=42617;gnomADv4_1_AC_joint_XY=41095;gnomADv4_1_AF_grpmax_joint=0.704394;gnomADv4_1_AF_joint=0.550483;gnomADv4_1_AF_joint_XX=0.548439;gnomADv4_1_AF_joint_XY=0.55262;gnomADv4_1_AN_grpmax_joint=67996;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25986;gnomADv4_1_nhomalt_joint_XX=13175;gnomADv4_1_nhomalt_joint_XY=12811;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27486078 chr22_27486078_T_C T C 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.431;CADD_Rawscore=-0.230243;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs59264294|||||||||||||||||||||chr22:g.27486078T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=44823;gnomADv4_1_AC_joint_XX=22901;gnomADv4_1_AC_joint_XY=21922;gnomADv4_1_AF_grpmax_joint=0.367034;gnomADv4_1_AF_joint=0.294683;gnomADv4_1_AF_joint_XX=0.294471;gnomADv4_1_AF_joint_XY=0.294904;gnomADv4_1_AN_grpmax_joint=67980;gnomADv4_1_AN_joint=152106;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7301;gnomADv4_1_nhomalt_joint_XX=3715;gnomADv4_1_nhomalt_joint_XY=3586;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27486204 chr22_27486204_A_AT A AT 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.32;CADDIndel_Rawscore=-0.305783;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs146228180|||||||||||||||||||||chr22:g.27486213dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=41877;gnomADv4_1_AC_joint_XX=21401;gnomADv4_1_AC_joint_XY=20476;gnomADv4_1_AF_grpmax_joint=0.34514;gnomADv4_1_AF_joint=0.277181;gnomADv4_1_AF_joint_XX=0.276799;gnomADv4_1_AF_joint_XY=0.27758;gnomADv4_1_AN_grpmax_joint=67784;gnomADv4_1_AN_joint=151082;gnomADv4_1_AN_joint_XX=77316;gnomADv4_1_AN_joint_XY=73766;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6432;gnomADv4_1_nhomalt_joint_XX=3278;gnomADv4_1_nhomalt_joint_XY=3154;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27486284 chr22_27486284_C_T C T 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.632;CADD_Rawscore=-0.134724;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762190|||||||||||||||||||||chr22:g.27486284C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=44793;gnomADv4_1_AC_joint_XX=22885;gnomADv4_1_AC_joint_XY=21908;gnomADv4_1_AF_grpmax_joint=0.367014;gnomADv4_1_AF_joint=0.294807;gnomADv4_1_AF_joint_XX=0.294606;gnomADv4_1_AF_joint_XY=0.295018;gnomADv4_1_AN_grpmax_joint=67932;gnomADv4_1_AN_joint=151940;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7299;gnomADv4_1_nhomalt_joint_XX=3713;gnomADv4_1_nhomalt_joint_XY=3586;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27486321 chr22_27486321_C_A C A 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=7.363;CADD_Rawscore=0.697888;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs2880494|||||||||||||||||||||chr22:g.27486321C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=44779;gnomADv4_1_AC_joint_XX=22882;gnomADv4_1_AC_joint_XY=21897;gnomADv4_1_AF_grpmax_joint=0.366801;gnomADv4_1_AF_joint=0.294886;gnomADv4_1_AF_joint_XX=0.294575;gnomADv4_1_AF_joint_XY=0.295211;gnomADv4_1_AN_grpmax_joint=67936;gnomADv4_1_AN_joint=151852;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74174;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7298;gnomADv4_1_nhomalt_joint_XX=3714;gnomADv4_1_nhomalt_joint_XY=3584;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27486726 chr22_27486726_T_G T G 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.843;CADD_Rawscore=-0.061696;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs926836|||||||||||||||||||||chr22:g.27486726T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=44030;gnomADv4_1_AC_joint_XX=22500;gnomADv4_1_AC_joint_XY=21530;gnomADv4_1_AF_grpmax_joint=0.358906;gnomADv4_1_AF_joint=0.289389;gnomADv4_1_AF_joint_XX=0.28927;gnomADv4_1_AF_joint_XY=0.289514;gnomADv4_1_AN_grpmax_joint=67990;gnomADv4_1_AN_joint=152148;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7041;gnomADv4_1_nhomalt_joint_XX=3580;gnomADv4_1_nhomalt_joint_XY=3461;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27486743 chr22_27486743_A_G A G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.079;CADD_Rawscore=-0.676316;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs926835|||||||||||||||||||||chr22:g.27486743A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=44042;gnomADv4_1_AC_joint_XX=22499;gnomADv4_1_AC_joint_XY=21543;gnomADv4_1_AF_grpmax_joint=0.358902;gnomADv4_1_AF_joint=0.289449;gnomADv4_1_AF_joint_XX=0.289294;gnomADv4_1_AF_joint_XY=0.289611;gnomADv4_1_AN_grpmax_joint=67988;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7041;gnomADv4_1_nhomalt_joint_XX=3576;gnomADv4_1_nhomalt_joint_XY=3465;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27486755 chr22_27486755_G_T G T 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.29;CADD_Rawscore=0.048595;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs926834|||||||||||||||||||||chr22:g.27486755G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=44038;gnomADv4_1_AC_joint_XX=22500;gnomADv4_1_AC_joint_XY=21538;gnomADv4_1_AF_grpmax_joint=0.358874;gnomADv4_1_AF_joint=0.289438;gnomADv4_1_AF_joint_XX=0.28927;gnomADv4_1_AF_joint_XY=0.289614;gnomADv4_1_AN_grpmax_joint=67996;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7047;gnomADv4_1_nhomalt_joint_XX=3582;gnomADv4_1_nhomalt_joint_XY=3465;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27486913 chr22_27486913_A_C A C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.404;CADD_Rawscore=-0.246342;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs34079586|||||||||||||||||||||chr22:g.27486913A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=39399;gnomADv4_1_AC_joint_XX=20014;gnomADv4_1_AC_joint_XY=19385;gnomADv4_1_AF_grpmax_joint=0.343212;gnomADv4_1_AF_joint=0.259439;gnomADv4_1_AF_joint_XX=0.2577;gnomADv4_1_AF_joint_XY=0.26126;gnomADv4_1_AN_grpmax_joint=67786;gnomADv4_1_AN_joint=151862;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74198;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5948;gnomADv4_1_nhomalt_joint_XX=2930;gnomADv4_1_nhomalt_joint_XY=3018;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27486915 chr22_27486915_A_G A G 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=4.249;CADD_Rawscore=0.387345;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs34345165|||||||||||||||||||||chr22:g.27486915A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=39397;gnomADv4_1_AC_joint_XX=20010;gnomADv4_1_AC_joint_XY=19387;gnomADv4_1_AF_grpmax_joint=0.343301;gnomADv4_1_AF_joint=0.259454;gnomADv4_1_AF_joint_XX=0.257675;gnomADv4_1_AF_joint_XY=0.261316;gnomADv4_1_AN_grpmax_joint=67786;gnomADv4_1_AN_joint=151846;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74190;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5949;gnomADv4_1_nhomalt_joint_XX=2930;gnomADv4_1_nhomalt_joint_XY=3019;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27486917 chr22_27486917_A_C A C 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=2.238;CADD_Rawscore=0.19391;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs34034668|||||||||||||||||||||chr22:g.27486917A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=39389;gnomADv4_1_AC_joint_XX=20008;gnomADv4_1_AC_joint_XY=19381;gnomADv4_1_AF_grpmax_joint=0.343278;gnomADv4_1_AF_joint=0.259483;gnomADv4_1_AF_joint_XX=0.257749;gnomADv4_1_AF_joint_XY=0.261298;gnomADv4_1_AN_grpmax_joint=67776;gnomADv4_1_AN_joint=151798;gnomADv4_1_AN_joint_XX=77626;gnomADv4_1_AN_joint_XY=74172;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5948;gnomADv4_1_nhomalt_joint_XX=2931;gnomADv4_1_nhomalt_joint_XY=3017;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27486943 chr22_27486943_C_G C G 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.244;CADD_Rawscore=-0.374728;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5762191|||||||||||||||||||||chr22:g.27486943C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43994;gnomADv4_1_AC_joint_XX=22472;gnomADv4_1_AC_joint_XY=21522;gnomADv4_1_AF_grpmax_joint=0.358593;gnomADv4_1_AF_joint=0.28929;gnomADv4_1_AF_joint_XX=0.289088;gnomADv4_1_AF_joint_XY=0.2895;gnomADv4_1_AN_grpmax_joint=67974;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7032;gnomADv4_1_nhomalt_joint_XX=3572;gnomADv4_1_nhomalt_joint_XY=3460;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27487175 chr22_27487175_C_T C T 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.204;CADD_Rawscore=-0.421137;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762192|||||||||||||||||||||chr22:g.27487175C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=44838;gnomADv4_1_AC_joint_XX=22909;gnomADv4_1_AC_joint_XY=21929;gnomADv4_1_AF_grpmax_joint=0.358724;gnomADv4_1_AF_joint=0.294995;gnomADv4_1_AF_joint_XX=0.2949;gnomADv4_1_AF_joint_XY=0.295094;gnomADv4_1_AN_grpmax_joint=67952;gnomADv4_1_AN_joint=151996;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7198;gnomADv4_1_nhomalt_joint_XX=3655;gnomADv4_1_nhomalt_joint_XY=3543;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27487227 chr22_27487227_T_C;chr22_27487227_T_A T C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.688;CADD_Rawscore=-0.113263;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4820759|||||||||||||||||||||chr22:g.27487227T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=100396;gnomADv4_1_AC_joint_XX=51114;gnomADv4_1_AC_joint_XY=49282;gnomADv4_1_AF_grpmax_joint=0.827079;gnomADv4_1_AF_joint=0.660309;gnomADv4_1_AF_joint_XX=0.657567;gnomADv4_1_AF_joint_XY=0.663177;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=33726;gnomADv4_1_nhomalt_joint_XX=17072;gnomADv4_1_nhomalt_joint_XY=16654;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27487227 chr22_27487227_T_C;chr22_27487227_T_A T A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.587;CADD_Rawscore=-0.152995;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs4820759|||||||||||||||||||||chr22:g.27487227T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43961;gnomADv4_1_AC_joint_XX=22460;gnomADv4_1_AC_joint_XY=21501;gnomADv4_1_AF_grpmax_joint=0.358675;gnomADv4_1_AF_joint=0.28913;gnomADv4_1_AF_joint_XX=0.288904;gnomADv4_1_AF_joint_XY=0.289365;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7032;gnomADv4_1_nhomalt_joint_XX=3567;gnomADv4_1_nhomalt_joint_XY=3465;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27487228 chr22_27487228_G_A G A 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.576;CADD_Rawscore=-0.157893;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5762193|||||||||||||||||||||chr22:g.27487228G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43956;gnomADv4_1_AC_joint_XX=22453;gnomADv4_1_AC_joint_XY=21503;gnomADv4_1_AF_grpmax_joint=0.358758;gnomADv4_1_AF_joint=0.289241;gnomADv4_1_AF_joint_XX=0.288941;gnomADv4_1_AF_joint_XY=0.289556;gnomADv4_1_AN_grpmax_joint=67926;gnomADv4_1_AN_joint=151970;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7031;gnomADv4_1_nhomalt_joint_XX=3567;gnomADv4_1_nhomalt_joint_XY=3464;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27487304 chr22_27487304_A_G A G 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.296;CADD_Rawscore=0.200668;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5762194|||||||||||||||||||||chr22:g.27487304A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43918;gnomADv4_1_AC_joint_XX=22443;gnomADv4_1_AC_joint_XY=21475;gnomADv4_1_AF_grpmax_joint=0.358764;gnomADv4_1_AF_joint=0.289056;gnomADv4_1_AF_joint_XX=0.288849;gnomADv4_1_AF_joint_XY=0.289272;gnomADv4_1_AN_grpmax_joint=67936;gnomADv4_1_AN_joint=151936;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7024;gnomADv4_1_nhomalt_joint_XX=3570;gnomADv4_1_nhomalt_joint_XY=3454;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27487355 chr22_27487355_C_T C T 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.989;CADD_Rawscore=-0.02074;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762195|||||||||||||||||||||chr22:g.27487355C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43946;gnomADv4_1_AC_joint_XX=22454;gnomADv4_1_AC_joint_XY=21492;gnomADv4_1_AF_grpmax_joint=0.358758;gnomADv4_1_AF_joint=0.289145;gnomADv4_1_AF_joint_XX=0.288842;gnomADv4_1_AF_joint_XY=0.289462;gnomADv4_1_AN_grpmax_joint=67940;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7038;gnomADv4_1_nhomalt_joint_XX=3574;gnomADv4_1_nhomalt_joint_XY=3464;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27487380 chr22_27487380_C_T C T 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=2.276;CADD_Rawscore=0.198326;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs11704095|||||||||||||||||||||chr22:g.27487380C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=39672;gnomADv4_1_AC_joint_XX=20122;gnomADv4_1_AC_joint_XY=19550;gnomADv4_1_AF_grpmax_joint=0.344943;gnomADv4_1_AF_joint=0.260842;gnomADv4_1_AF_joint_XX=0.258824;gnomADv4_1_AF_joint_XY=0.262953;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6087;gnomADv4_1_nhomalt_joint_XX=2987;gnomADv4_1_nhomalt_joint_XY=3100;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27487880 chr22_27487880_T_C T C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=6.023;CADD_Rawscore=0.555525;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762196|||||||||||||||||||||chr22:g.27487880T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=10286;gnomADv4_1_AC_joint_XX=5350;gnomADv4_1_AC_joint_XY=4936;gnomADv4_1_AF_grpmax_joint=0.12585;gnomADv4_1_AF_joint=0.0676168;gnomADv4_1_AF_joint_XX=0.0688262;gnomADv4_1_AF_joint_XY=0.066353;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=447;gnomADv4_1_nhomalt_joint_XX=226;gnomADv4_1_nhomalt_joint_XY=221;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27488032 chr22_27488032_C_T C T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.659;CADD_Rawscore=-0.124086;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs1569831|||||||||||||||||||||chr22:g.27488032C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43833;gnomADv4_1_AC_joint_XX=22337;gnomADv4_1_AC_joint_XY=21496;gnomADv4_1_AF_grpmax_joint=0.36081;gnomADv4_1_AF_joint=0.288702;gnomADv4_1_AF_joint_XX=0.287663;gnomADv4_1_AF_joint_XY=0.289789;gnomADv4_1_AN_grpmax_joint=67936;gnomADv4_1_AN_joint=151828;gnomADv4_1_AN_joint_XX=77650;gnomADv4_1_AN_joint_XY=74178;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7085;gnomADv4_1_nhomalt_joint_XX=3579;gnomADv4_1_nhomalt_joint_XY=3506;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27488033 chr22_27488033_A_G A G 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.353;CADD_Rawscore=-0.280507;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs1569830|||||||||||||||||||||chr22:g.27488033A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=144151;gnomADv4_1_AC_joint_XX=73468;gnomADv4_1_AC_joint_XY=70683;gnomADv4_1_AF_grpmax_joint=0.999804;gnomADv4_1_AF_joint=0.950237;gnomADv4_1_AF_joint_XX=0.94729;gnomADv4_1_AF_joint_XY=0.953321;gnomADv4_1_AN_grpmax_joint=5100;gnomADv4_1_AN_joint=151700;gnomADv4_1_AN_joint_XX=77556;gnomADv4_1_AN_joint_XY=74144;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=68522;gnomADv4_1_nhomalt_joint_XX=34800;gnomADv4_1_nhomalt_joint_XY=33722;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27488112 chr22_27488112_G_A G A 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=12.99;CADD_Rawscore=1.31233;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs1569829|||||||||||||||||||||chr22:g.27488112G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=44032;gnomADv4_1_AC_joint_XX=22437;gnomADv4_1_AC_joint_XY=21595;gnomADv4_1_AF_grpmax_joint=0.361066;gnomADv4_1_AF_joint=0.289905;gnomADv4_1_AF_joint_XX=0.288831;gnomADv4_1_AF_joint_XY=0.29103;gnomADv4_1_AN_grpmax_joint=67946;gnomADv4_1_AN_joint=151884;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7129;gnomADv4_1_nhomalt_joint_XX=3598;gnomADv4_1_nhomalt_joint_XY=3531;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27488118 chr22_27488118_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=8.587;CADD_Rawscore=0.831663;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs1569828|||||||||||||||||||||chr22:g.27488118A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=143304;gnomADv4_1_AC_joint_XX=73072;gnomADv4_1_AC_joint_XY=70232;gnomADv4_1_AF_grpmax_joint=0.997652;gnomADv4_1_AF_joint=0.943211;gnomADv4_1_AF_joint_XX=0.940365;gnomADv4_1_AF_joint_XY=0.946191;gnomADv4_1_AN_grpmax_joint=5110;gnomADv4_1_AN_joint=151932;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67661;gnomADv4_1_nhomalt_joint_XX=34384;gnomADv4_1_nhomalt_joint_XY=33277;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27488129 chr22_27488129_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=15.56;CADD_Rawscore=1.75256;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs1569827|||||||||||||||||||||chr22:g.27488129A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=142534;gnomADv4_1_AC_joint_XX=72652;gnomADv4_1_AC_joint_XY=69882;gnomADv4_1_AF_grpmax_joint=0.999805;gnomADv4_1_AF_joint=0.937613;gnomADv4_1_AF_joint_XX=0.934503;gnomADv4_1_AF_joint_XY=0.940868;gnomADv4_1_AN_grpmax_joint=5118;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=66946;gnomADv4_1_nhomalt_joint_XX=33995;gnomADv4_1_nhomalt_joint_XY=32951;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27488195 chr22_27488195_C_T C T 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=10.2;CADD_Rawscore=0.988595;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DWKR|enhancer||||||||||rs9608615|||||||||||||||||||||chr22:g.27488195C>T|||||||||||||,T|intergenic_variant|MODIFIER|||||||||||||||rs9608615|||||||||||||||||||||chr22:g.27488195C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENSR22_9DWKR,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=96088;gnomADv4_1_AC_joint_XX=49113;gnomADv4_1_AC_joint_XY=46975;gnomADv4_1_AF_grpmax_joint=0.793043;gnomADv4_1_AF_joint=0.632091;gnomADv4_1_AF_joint_XX=0.631955;gnomADv4_1_AF_joint_XY=0.632234;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=152016;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=30761;gnomADv4_1_nhomalt_joint_XX=15699;gnomADv4_1_nhomalt_joint_XY=15062;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27488300 chr22_27488300_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=10.3;CADD_Rawscore=0.997324;CSQ=G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DWKR|enhancer||||||||||rs4435553|||||||||||||||||||||chr22:g.27488300A>G|||||||||||||,G|intergenic_variant|MODIFIER|||||||||||||||rs4435553|||||||||||||||||||||chr22:g.27488300A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENSR22_9DWKR,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=152003;gnomADv4_1_AC_joint_XX=77684;gnomADv4_1_AC_joint_XY=74319;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.997932;gnomADv4_1_AF_joint_XX=0.997945;gnomADv4_1_AF_joint_XY=0.997919;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152318;gnomADv4_1_AN_joint_XX=77844;gnomADv4_1_AN_joint_XY=74474;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75844;gnomADv4_1_nhomalt_joint_XX=38762;gnomADv4_1_nhomalt_joint_XY=37082;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27488494 chr22_27488494_T_A T A 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=7.031;CADD_Rawscore=0.661427;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs11090494|||||||||||||||||||||chr22:g.27488494T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38304;gnomADv4_1_AC_joint_XX=19673;gnomADv4_1_AC_joint_XY=18631;gnomADv4_1_AF_grpmax_joint=0.349147;gnomADv4_1_AF_joint=0.256399;gnomADv4_1_AF_joint_XX=0.256694;gnomADv4_1_AF_joint_XY=0.256089;gnomADv4_1_AN_grpmax_joint=67138;gnomADv4_1_AN_joint=149392;gnomADv4_1_AN_joint_XX=76640;gnomADv4_1_AN_joint_XY=72752;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6012;gnomADv4_1_nhomalt_joint_XX=3010;gnomADv4_1_nhomalt_joint_XY=3002;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27488974 chr22_27488974_G_A G A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.412;CADD_Rawscore=-0.241432;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RS6Z|enhancer||||||||||rs5752567|||||||||||||||||||||chr22:g.27488974G>A|||||||||||||,A|intergenic_variant|MODIFIER|||||||||||||||rs5752567|||||||||||||||||||||chr22:g.27488974G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENSR22_8RS6Z,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=13664;gnomADv4_1_AC_joint_XX=7123;gnomADv4_1_AC_joint_XY=6541;gnomADv4_1_AF_grpmax_joint=0.132653;gnomADv4_1_AF_joint=0.0898156;gnomADv4_1_AF_joint_XX=0.0915859;gnomADv4_1_AF_joint_XY=0.087964;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=698;gnomADv4_1_nhomalt_joint_XX=355;gnomADv4_1_nhomalt_joint_XY=343;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27488975 chr22_27488975_T_A T A 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.996;CADD_Rawscore=-0.018927;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RS6Z|enhancer||||||||||rs4820760|||||||||||||||||||||chr22:g.27488975T>A|||||||||||||,A|intergenic_variant|MODIFIER|||||||||||||||rs4820760|||||||||||||||||||||chr22:g.27488975T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENSR22_8RS6Z,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=144770;gnomADv4_1_AC_joint_XX=73765;gnomADv4_1_AC_joint_XY=71005;gnomADv4_1_AF_grpmax_joint=0.999806;gnomADv4_1_AF_joint=0.95102;gnomADv4_1_AF_joint_XX=0.948014;gnomADv4_1_AF_joint_XY=0.954163;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152226;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=68868;gnomADv4_1_nhomalt_joint_XX=34964;gnomADv4_1_nhomalt_joint_XY=33904;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27489668 chr22_27489668_C_CT C CT 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=45;CADDIndel_PHREDscore=0.429;CADDIndel_Rawscore=-0.23144;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs199619808|||||||||||||||||||||chr22:g.27489682dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=40037;gnomADv4_1_AC_joint_XX=20683;gnomADv4_1_AC_joint_XY=19354;gnomADv4_1_AF_grpmax_joint=0.669298;gnomADv4_1_AF_joint=0.284051;gnomADv4_1_AF_joint_XX=0.284099;gnomADv4_1_AF_joint_XY=0.284;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=140950;gnomADv4_1_AN_joint_XX=72802;gnomADv4_1_AN_joint_XY=68148;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6380;gnomADv4_1_nhomalt_joint_XX=3311;gnomADv4_1_nhomalt_joint_XY=3069;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27490576 chr22_27490576_A_G A G 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.218;CADD_Rawscore=-0.404695;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs6005467|||||||||||||||||||||chr22:g.27490576A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=97535;gnomADv4_1_AC_joint_XX=49880;gnomADv4_1_AC_joint_XY=47655;gnomADv4_1_AF_grpmax_joint=0.863135;gnomADv4_1_AF_joint=0.646672;gnomADv4_1_AF_joint_XX=0.646164;gnomADv4_1_AF_joint_XY=0.647205;gnomADv4_1_AN_grpmax_joint=5078;gnomADv4_1_AN_joint=150826;gnomADv4_1_AN_joint_XX=77194;gnomADv4_1_AN_joint_XY=73632;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32351;gnomADv4_1_nhomalt_joint_XX=16475;gnomADv4_1_nhomalt_joint_XY=15876;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27490693 chr22_27490694_AC_A;chr22_27490693_AAC_A AAC A 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=12;CADDIndel_PHREDscore=0.233;CADDIndel_Rawscore=-0.386918;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs748529743|||||||||||||||||||||chr22:g.27490695_27490696del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=31485;gnomADv4_1_AC_joint_XX=16768;gnomADv4_1_AC_joint_XY=14717;gnomADv4_1_AF_grpmax_joint=0.303592;gnomADv4_1_AF_joint=0.234225;gnomADv4_1_AF_joint_XX=0.239769;gnomADv4_1_AF_joint_XY=0.228213;gnomADv4_1_AN_grpmax_joint=63088;gnomADv4_1_AN_joint=134422;gnomADv4_1_AN_joint_XX=69934;gnomADv4_1_AN_joint_XY=64488;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4064;gnomADv4_1_nhomalt_joint_XX=2129;gnomADv4_1_nhomalt_joint_XY=1935;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27490694 chr22_27490694_AC_A;chr22_27490693_AAC_A AC A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.176;CADDIndel_Rawscore=-0.460314;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs1352341665|||||||||||||||||||||chr22:g.27490695del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=34659;gnomADv4_1_AC_joint_XX=17990;gnomADv4_1_AC_joint_XY=16669;gnomADv4_1_AF_grpmax_joint=0.705602;gnomADv4_1_AF_joint=0.400932;gnomADv4_1_AF_joint_XX=0.401473;gnomADv4_1_AF_joint_XY=0.400351;gnomADv4_1_AN_grpmax_joint=3570;gnomADv4_1_AN_joint=86446;gnomADv4_1_AN_joint_XX=44810;gnomADv4_1_AN_joint_XY=41636;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5496;gnomADv4_1_nhomalt_joint_XX=2794;gnomADv4_1_nhomalt_joint_XY=2702;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27490775 chr22_27490775_G_A G A 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.73;CADD_Rawscore=-0.09817;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs11913002|||||||||||||||||||||chr22:g.27490775G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=58585;gnomADv4_1_AC_joint_XX=30124;gnomADv4_1_AC_joint_XY=28461;gnomADv4_1_AF_grpmax_joint=0.419065;gnomADv4_1_AF_joint=0.388376;gnomADv4_1_AF_joint_XX=0.389834;gnomADv4_1_AF_joint_XY=0.386846;gnomADv4_1_AN_grpmax_joint=4794;gnomADv4_1_AN_joint=150846;gnomADv4_1_AN_joint_XX=77274;gnomADv4_1_AN_joint_XY=73572;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=11493;gnomADv4_1_nhomalt_joint_XX=5864;gnomADv4_1_nhomalt_joint_XY=5629;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27490858 chr22_27490858_C_T C T 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.318;CADD_Rawscore=0.203225;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs6005468|||||||||||||||||||||chr22:g.27490858C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=95802;gnomADv4_1_AC_joint_XX=48928;gnomADv4_1_AC_joint_XY=46874;gnomADv4_1_AF_grpmax_joint=0.862963;gnomADv4_1_AF_joint=0.631431;gnomADv4_1_AF_joint_XX=0.630385;gnomADv4_1_AF_joint_XY=0.632526;gnomADv4_1_AN_grpmax_joint=5130;gnomADv4_1_AN_joint=151722;gnomADv4_1_AN_joint_XX=77616;gnomADv4_1_AN_joint_XY=74106;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=30872;gnomADv4_1_nhomalt_joint_XX=15692;gnomADv4_1_nhomalt_joint_XY=15180;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27491459 chr22_27491459_C_T C T 24 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=24;CADD_PHREDscore=3.111;CADD_Rawscore=0.285013;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs11704484|||||||||||||||||||||chr22:g.27491459C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37598;gnomADv4_1_AC_joint_XX=19238;gnomADv4_1_AC_joint_XY=18360;gnomADv4_1_AF_grpmax_joint=0.331151;gnomADv4_1_AF_joint=0.247144;gnomADv4_1_AF_joint_XX=0.24739;gnomADv4_1_AF_joint_XY=0.246887;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5579;gnomADv4_1_nhomalt_joint_XX=2807;gnomADv4_1_nhomalt_joint_XY=2772;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27491510 chr22_27491510_A_C A C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=4.27;CADD_Rawscore=0.389227;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762197|||||||||||||||||||||chr22:g.27491510A>C|||1||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=84407;gnomADv4_1_AC_joint_XX=42984;gnomADv4_1_AC_joint_XY=41423;gnomADv4_1_AF_grpmax_joint=0.716332;gnomADv4_1_AF_joint=0.5549;gnomADv4_1_AF_joint_XX=0.55282;gnomADv4_1_AF_joint_XY=0.557075;gnomADv4_1_AN_grpmax_joint=68002;gnomADv4_1_AN_joint=152112;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26671;gnomADv4_1_nhomalt_joint_XX=13555;gnomADv4_1_nhomalt_joint_XY=13116;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27491868 chr22_27491868_G_C G C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=3.367;CADD_Rawscore=0.308705;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs962537|||||||||||||||||||||chr22:g.27491868G>C|||1||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=54466;gnomADv4_1_AC_joint_XX=27780;gnomADv4_1_AC_joint_XY=26686;gnomADv4_1_AF_grpmax_joint=0.69265;gnomADv4_1_AF_joint=0.357971;gnomADv4_1_AF_joint_XX=0.357216;gnomADv4_1_AF_joint_XY=0.35876;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11934;gnomADv4_1_nhomalt_joint_XX=6077;gnomADv4_1_nhomalt_joint_XY=5857;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27491934 chr22_27491934_C_A C A 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.842;CADD_Rawscore=-0.062128;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5762198|||||||||||||||||||||chr22:g.27491934C>A|||1||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=44918;gnomADv4_1_AC_joint_XX=22776;gnomADv4_1_AC_joint_XY=22142;gnomADv4_1_AF_grpmax_joint=0.383226;gnomADv4_1_AF_joint=0.295202;gnomADv4_1_AF_joint_XX=0.292766;gnomADv4_1_AF_joint_XY=0.297752;gnomADv4_1_AN_grpmax_joint=67986;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7715;gnomADv4_1_nhomalt_joint_XX=3843;gnomADv4_1_nhomalt_joint_XY=3872;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27492270 chr22_27492270_A_G A G 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.494;CADD_Rawscore=-0.196305;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5762199|||||||||||||||||||||chr22:g.27492270A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=109387;gnomADv4_1_AC_joint_XX=55709;gnomADv4_1_AC_joint_XY=53678;gnomADv4_1_AF_grpmax_joint=0.806408;gnomADv4_1_AF_joint=0.71864;gnomADv4_1_AF_joint_XX=0.716238;gnomADv4_1_AF_joint_XY=0.721149;gnomADv4_1_AN_grpmax_joint=68014;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=40397;gnomADv4_1_nhomalt_joint_XX=20494;gnomADv4_1_nhomalt_joint_XY=19903;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27492350 chr22_27492350_G_A G A 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=4.565;CADD_Rawscore=0.415776;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5762200|||||||||||||||||||||chr22:g.27492350G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=59258;gnomADv4_1_AC_joint_XX=30347;gnomADv4_1_AC_joint_XY=28911;gnomADv4_1_AF_grpmax_joint=0.421797;gnomADv4_1_AF_joint=0.389553;gnomADv4_1_AF_joint_XX=0.390275;gnomADv4_1_AF_joint_XY=0.388798;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=11647;gnomADv4_1_nhomalt_joint_XX=5916;gnomADv4_1_nhomalt_joint_XY=5731;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27492494 chr22_27492494_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.194;CADD_Rawscore=-0.434738;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5762201|||||||||||||||||||||chr22:g.27492494A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=143390;gnomADv4_1_AC_joint_XX=73025;gnomADv4_1_AC_joint_XY=70365;gnomADv4_1_AF_grpmax_joint=0.999807;gnomADv4_1_AF_joint=0.941608;gnomADv4_1_AF_joint_XX=0.938287;gnomADv4_1_AF_joint_XY=0.94508;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152282;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67592;gnomADv4_1_nhomalt_joint_XX=34279;gnomADv4_1_nhomalt_joint_XY=33313;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27493003 chr22_27493003_C_T C T 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.195;CADD_Rawscore=0.028608;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs74597019|||||||||||||||||||||chr22:g.27493003C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=1056;gnomADv4_1_AC_joint_XX=502;gnomADv4_1_AC_joint_XY=554;gnomADv4_1_AF_grpmax_joint=0.0171287;gnomADv4_1_AF_joint=0.00693587;gnomADv4_1_AF_joint_XX=0.00645194;gnomADv4_1_AF_joint_XY=0.00744164;gnomADv4_1_AN_grpmax_joint=15296;gnomADv4_1_AN_joint=152252;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=12;gnomADv4_1_nhomalt_joint_XX=2;gnomADv4_1_nhomalt_joint_XY=10;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27493666 chr22_27493666_G_C G C 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.553;CADD_Rawscore=0.097291;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs734088|||||||||||||||||||||chr22:g.27493666G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=61221;gnomADv4_1_AC_joint_XX=31417;gnomADv4_1_AC_joint_XY=29804;gnomADv4_1_AF_grpmax_joint=0.421894;gnomADv4_1_AF_joint=0.40269;gnomADv4_1_AF_joint_XX=0.404212;gnomADv4_1_AF_joint_XY=0.401098;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152030;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=12398;gnomADv4_1_nhomalt_joint_XX=6334;gnomADv4_1_nhomalt_joint_XY=6064;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27495353 chr22_27495353_GTGATGAGCAAAAC_G;chr22_27495366_C_G GTGATGAGCAAAAC G 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=1.675;CADDIndel_Rawscore=0.117098;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs11269141|||||||||||||||||||||chr22:g.27495354_27495366del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=82001;gnomADv4_1_AC_joint_XX=41606;gnomADv4_1_AC_joint_XY=40395;gnomADv4_1_AF_grpmax_joint=0.675655;gnomADv4_1_AF_joint=0.540718;gnomADv4_1_AF_joint_XX=0.536602;gnomADv4_1_AF_joint_XY=0.545024;gnomADv4_1_AN_grpmax_joint=5118;gnomADv4_1_AN_joint=151652;gnomADv4_1_AN_joint_XX=77536;gnomADv4_1_AN_joint_XY=74116;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=22395;gnomADv4_1_nhomalt_joint_XX=11245;gnomADv4_1_nhomalt_joint_XY=11150;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27495366 chr22_27495353_GTGATGAGCAAAAC_G;chr22_27495366_C_G C G 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.481;CADD_Rawscore=-0.202892;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs13057634|||||||||||||||||||||chr22:g.27495366C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=61555;gnomADv4_1_AC_joint_XX=31563;gnomADv4_1_AC_joint_XY=29992;gnomADv4_1_AF_grpmax_joint=0.668539;gnomADv4_1_AF_joint=0.625864;gnomADv4_1_AF_joint_XX=0.625679;gnomADv4_1_AF_joint_XY=0.626059;gnomADv4_1_AN_grpmax_joint=178;gnomADv4_1_AN_joint=98352;gnomADv4_1_AN_joint_XX=50446;gnomADv4_1_AN_joint_XY=47906;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=12654;gnomADv4_1_nhomalt_joint_XX=6475;gnomADv4_1_nhomalt_joint_XY=6179;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27495449 chr22_27495449_G_A G A 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=2.52;CADD_Rawscore=0.225823;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs55970456|||||||||||||||||||||chr22:g.27495449G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=17598;gnomADv4_1_AC_joint_XX=8970;gnomADv4_1_AC_joint_XY=8628;gnomADv4_1_AF_grpmax_joint=0.166377;gnomADv4_1_AF_joint=0.115715;gnomADv4_1_AF_joint_XX=0.115349;gnomADv4_1_AF_joint_XY=0.116099;gnomADv4_1_AN_grpmax_joint=67978;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1419;gnomADv4_1_nhomalt_joint_XX=718;gnomADv4_1_nhomalt_joint_XY=701;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27495754 chr22_27495754_C_G C G 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.502;CADD_Rawscore=0.088405;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs17464499|||||||||||||||||||||chr22:g.27495754C>G|||1||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=8563;gnomADv4_1_AC_joint_XX=4453;gnomADv4_1_AC_joint_XY=4110;gnomADv4_1_AF_grpmax_joint=0.106881;gnomADv4_1_AF_joint=0.0562349;gnomADv4_1_AF_joint_XX=0.0572203;gnomADv4_1_AF_joint_XY=0.0552048;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152272;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=315;gnomADv4_1_nhomalt_joint_XX=163;gnomADv4_1_nhomalt_joint_XY=152;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27495992 chr22_27495992_C_CT C CT 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.35;CADDIndel_Rawscore=-0.283108;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs1555906074|||||||||||||||||||||chr22:g.27495993dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=1096;gnomADv4_1_AC_joint_XX=524;gnomADv4_1_AC_joint_XY=572;gnomADv4_1_AF_grpmax_joint=0.109375;gnomADv4_1_AF_joint=0.0324337;gnomADv4_1_AF_joint_XX=0.0297288;gnomADv4_1_AF_joint_XY=0.0353829;gnomADv4_1_AN_grpmax_joint=2368;gnomADv4_1_AN_joint=33792;gnomADv4_1_AN_joint_XX=17626;gnomADv4_1_AN_joint_XY=16166;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=14;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=11;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27495993 chr22_27495993_T_TG T TG 50 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.379;CADDIndel_Rawscore=-0.262833;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5844764|||||||||||||||||||||chr22:g.27495999dup|||||||||||||;TYPE=INDEL;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=132172;gnomADv4_1_AC_joint_XX=67393;gnomADv4_1_AC_joint_XY=64779;gnomADv4_1_AF_grpmax_joint=0.949903;gnomADv4_1_AF_joint=0.871077;gnomADv4_1_AF_joint_XX=0.868578;gnomADv4_1_AF_joint_XY=0.873692;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151734;gnomADv4_1_AN_joint_XX=77590;gnomADv4_1_AN_joint_XY=74144;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=58532;gnomADv4_1_nhomalt_joint_XX=29759;gnomADv4_1_nhomalt_joint_XY=28773;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27496275 chr22_27496275_C_T C T 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=2.141;CADD_Rawscore=0.182065;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs73160521|||||||||||||||||||||chr22:g.27496275C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=19408;gnomADv4_1_AC_joint_XX=9954;gnomADv4_1_AC_joint_XY=9454;gnomADv4_1_AF_grpmax_joint=0.183821;gnomADv4_1_AF_joint=0.12754;gnomADv4_1_AF_joint_XX=0.127966;gnomADv4_1_AF_joint_XY=0.127094;gnomADv4_1_AN_grpmax_joint=67990;gnomADv4_1_AN_joint=152172;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1665;gnomADv4_1_nhomalt_joint_XX=847;gnomADv4_1_nhomalt_joint_XY=818;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27497015 chr22_27497015_T_G T G 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.98;CADD_Rawscore=-0.023125;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4822888|||||||||||||||||||||chr22:g.27497015T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=102652;gnomADv4_1_AC_joint_XX=52396;gnomADv4_1_AC_joint_XY=50256;gnomADv4_1_AF_grpmax_joint=0.7762;gnomADv4_1_AF_joint=0.679203;gnomADv4_1_AF_joint_XX=0.676881;gnomADv4_1_AF_joint_XY=0.681641;gnomADv4_1_AN_grpmax_joint=4790;gnomADv4_1_AN_joint=151136;gnomADv4_1_AN_joint_XX=77408;gnomADv4_1_AN_joint_XY=73728;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=35559;gnomADv4_1_nhomalt_joint_XX=18068;gnomADv4_1_nhomalt_joint_XY=17491;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27497016 chr22_27497016_A_C A C 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.206;CADD_Rawscore=-0.419003;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4820761|||||||||||||||||||||chr22:g.27497016A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=102635;gnomADv4_1_AC_joint_XX=52391;gnomADv4_1_AC_joint_XY=50244;gnomADv4_1_AF_grpmax_joint=0.776107;gnomADv4_1_AF_joint=0.679657;gnomADv4_1_AF_joint_XX=0.677394;gnomADv4_1_AF_joint_XY=0.682033;gnomADv4_1_AN_grpmax_joint=4788;gnomADv4_1_AN_joint=151010;gnomADv4_1_AN_joint_XX=77342;gnomADv4_1_AN_joint_XY=73668;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=35555;gnomADv4_1_nhomalt_joint_XX=18067;gnomADv4_1_nhomalt_joint_XY=17488;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27497082 chr22_27497082_A_ATTTT;chr22_27497082_A_ATTT A ATTTT 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=2.241;CADDIndel_Rawscore=0.194264;CSQ=TTTT|intergenic_variant|MODIFIER|||||||||||||||rs60794234|||||||||||||||||||||chr22:g.27497095_27497098dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37995;gnomADv4_1_AC_joint_XX=20230;gnomADv4_1_AC_joint_XY=17765;gnomADv4_1_AF_grpmax_joint=0.378465;gnomADv4_1_AF_joint=0.286776;gnomADv4_1_AF_joint_XX=0.289496;gnomADv4_1_AF_joint_XY=0.283741;gnomADv4_1_AN_grpmax_joint=63776;gnomADv4_1_AN_joint=132490;gnomADv4_1_AN_joint_XX=69880;gnomADv4_1_AN_joint_XY=62610;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6955;gnomADv4_1_nhomalt_joint_XX=3679;gnomADv4_1_nhomalt_joint_XY=3276;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27497082 chr22_27497082_A_ATTTT;chr22_27497082_A_ATTT A ATTT 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=28;CADDIndel_PHREDscore=2.278;CADDIndel_Rawscore=0.198623;CSQ=TTT|intergenic_variant|MODIFIER|||||||||||||||rs60794234|||||||||||||||||||||chr22:g.27497096_27497098dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38488;gnomADv4_1_AC_joint_XX=20454;gnomADv4_1_AC_joint_XY=18034;gnomADv4_1_AF_grpmax_joint=0.350436;gnomADv4_1_AF_joint=0.290471;gnomADv4_1_AF_joint_XX=0.292802;gnomADv4_1_AF_joint_XY=0.287872;gnomADv4_1_AN_grpmax_joint=63752;gnomADv4_1_AN_joint=132502;gnomADv4_1_AN_joint_XX=69856;gnomADv4_1_AN_joint_XY=62646;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6502;gnomADv4_1_nhomalt_joint_XX=3480;gnomADv4_1_nhomalt_joint_XY=3022;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27497346 chr22_27497346_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.131;CADD_Rawscore=0.014138;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs7289476|||||||||||||||||||||chr22:g.27497346A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=98460;gnomADv4_1_AC_joint_XX=50236;gnomADv4_1_AC_joint_XY=48224;gnomADv4_1_AF_grpmax_joint=0.74691;gnomADv4_1_AF_joint=0.648557;gnomADv4_1_AF_joint_XX=0.647288;gnomADv4_1_AF_joint_XY=0.649884;gnomADv4_1_AN_grpmax_joint=67956;gnomADv4_1_AN_joint=151814;gnomADv4_1_AN_joint_XX=77610;gnomADv4_1_AN_joint_XY=74204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=33043;gnomADv4_1_nhomalt_joint_XX=16804;gnomADv4_1_nhomalt_joint_XY=16239;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27497536 chr22_27497536_C_T C T 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=6.114;CADD_Rawscore=0.56475;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs7292844|||||||||||||||||||||chr22:g.27497536C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=39802;gnomADv4_1_AC_joint_XX=20305;gnomADv4_1_AC_joint_XY=19497;gnomADv4_1_AF_grpmax_joint=0.334924;gnomADv4_1_AF_joint=0.262224;gnomADv4_1_AF_joint_XX=0.261635;gnomADv4_1_AF_joint_XY=0.262841;gnomADv4_1_AN_grpmax_joint=67878;gnomADv4_1_AN_joint=151786;gnomADv4_1_AN_joint_XX=77608;gnomADv4_1_AN_joint_XY=74178;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5946;gnomADv4_1_nhomalt_joint_XX=3012;gnomADv4_1_nhomalt_joint_XY=2934;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27497732 chr22_27497732_G_A G A 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.887;CADD_Rawscore=0.355164;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs113400531|||||||||||||||||||||chr22:g.27497732G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=45116;gnomADv4_1_AC_joint_XX=22940;gnomADv4_1_AC_joint_XY=22176;gnomADv4_1_AF_grpmax_joint=0.384511;gnomADv4_1_AF_joint=0.296843;gnomADv4_1_AF_joint_XX=0.29523;gnomADv4_1_AF_joint_XY=0.29853;gnomADv4_1_AN_grpmax_joint=67920;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7725;gnomADv4_1_nhomalt_joint_XX=3867;gnomADv4_1_nhomalt_joint_XY=3858;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27497889 chr22_27497889_G_T G T 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADD_PHREDscore=1.311;CADD_Rawscore=0.052804;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762205|||||||||||||||||||||chr22:g.27497889G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=42415;gnomADv4_1_AC_joint_XX=21771;gnomADv4_1_AC_joint_XY=20644;gnomADv4_1_AF_grpmax_joint=0.364964;gnomADv4_1_AF_joint=0.297369;gnomADv4_1_AF_joint_XX=0.294864;gnomADv4_1_AF_joint_XY=0.300058;gnomADv4_1_AN_grpmax_joint=274;gnomADv4_1_AN_joint=142634;gnomADv4_1_AN_joint_XX=73834;gnomADv4_1_AN_joint_XY=68800;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6822;gnomADv4_1_nhomalt_joint_XX=3488;gnomADv4_1_nhomalt_joint_XY=3334;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27497934 chr22_27497934_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.114;CADD_Rawscore=0.010177;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs1807597|||||||||||||||||||||chr22:g.27497934C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37114;gnomADv4_1_AC_joint_XX=19117;gnomADv4_1_AC_joint_XY=17997;gnomADv4_1_AF_grpmax_joint=0.547676;gnomADv4_1_AF_joint=0.249134;gnomADv4_1_AF_joint_XX=0.249719;gnomADv4_1_AF_joint_XY=0.248516;gnomADv4_1_AN_grpmax_joint=4992;gnomADv4_1_AN_joint=148972;gnomADv4_1_AN_joint_XX=76554;gnomADv4_1_AN_joint_XY=72418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5079;gnomADv4_1_nhomalt_joint_XX=2636;gnomADv4_1_nhomalt_joint_XY=2443;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27498013 chr22_27498013_G_T G T 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=3.147;CADD_Rawscore=0.288431;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs4822889|||||||||||||||||||||chr22:g.27498013G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=50843;gnomADv4_1_AC_joint_XX=25983;gnomADv4_1_AC_joint_XY=24860;gnomADv4_1_AF_grpmax_joint=0.370748;gnomADv4_1_AF_joint=0.334886;gnomADv4_1_AF_joint_XX=0.334634;gnomADv4_1_AF_joint_XY=0.335149;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151822;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=74176;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8616;gnomADv4_1_nhomalt_joint_XX=4369;gnomADv4_1_nhomalt_joint_XY=4247;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27498055 chr22_27498055_C_T C T 63 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=63;CADD_PHREDscore=0.334;CADD_Rawscore=-0.294416;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs4820762|||||||||||||||||||||chr22:g.27498055C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=98317;gnomADv4_1_AC_joint_XX=50156;gnomADv4_1_AC_joint_XY=48161;gnomADv4_1_AF_grpmax_joint=0.747004;gnomADv4_1_AF_joint=0.647683;gnomADv4_1_AF_joint_XX=0.64634;gnomADv4_1_AF_joint_XY=0.649088;gnomADv4_1_AN_grpmax_joint=67930;gnomADv4_1_AN_joint=151798;gnomADv4_1_AN_joint_XX=77600;gnomADv4_1_AN_joint_XY=74198;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=32991;gnomADv4_1_nhomalt_joint_XX=16778;gnomADv4_1_nhomalt_joint_XY=16213;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27498341 chr22_27498341_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=13.78;CADD_Rawscore=1.4338;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4822890|||||||||||||||||||||chr22:g.27498341A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=103395;gnomADv4_1_AC_joint_XX=52633;gnomADv4_1_AC_joint_XY=50762;gnomADv4_1_AF_grpmax_joint=0.773331;gnomADv4_1_AF_joint=0.680132;gnomADv4_1_AF_joint_XX=0.677457;gnomADv4_1_AF_joint_XY=0.682927;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=35862;gnomADv4_1_nhomalt_joint_XX=18170;gnomADv4_1_nhomalt_joint_XY=17692;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27498423 chr22_27498423_A_T A T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.211;CADD_Rawscore=0.031943;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs4822891|||||||||||||||||||||chr22:g.27498423A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=136313;gnomADv4_1_AC_joint_XX=69664;gnomADv4_1_AC_joint_XY=66649;gnomADv4_1_AF_grpmax_joint=0.941955;gnomADv4_1_AF_joint=0.895724;gnomADv4_1_AF_joint_XX=0.89547;gnomADv4_1_AF_joint_XY=0.895988;gnomADv4_1_AN_grpmax_joint=68016;gnomADv4_1_AN_joint=152182;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=61392;gnomADv4_1_nhomalt_joint_XX=31357;gnomADv4_1_nhomalt_joint_XY=30035;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27498575 chr22_27498575_A_G A G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.269;CADD_Rawscore=-0.349744;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs738570|||||||||||||||||||||chr22:g.27498575A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=136067;gnomADv4_1_AC_joint_XX=69522;gnomADv4_1_AC_joint_XY=66545;gnomADv4_1_AF_grpmax_joint=0.941828;gnomADv4_1_AF_joint=0.895637;gnomADv4_1_AF_joint_XX=0.895394;gnomADv4_1_AF_joint_XY=0.895891;gnomADv4_1_AN_grpmax_joint=67936;gnomADv4_1_AN_joint=151922;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=61269;gnomADv4_1_nhomalt_joint_XX=31287;gnomADv4_1_nhomalt_joint_XY=29982;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27498578 chr22_27498578_C_A C A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.27;CADD_Rawscore=-0.348964;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs738569|||||||||||||||||||||chr22:g.27498578C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=136068;gnomADv4_1_AC_joint_XX=69522;gnomADv4_1_AC_joint_XY=66546;gnomADv4_1_AF_grpmax_joint=0.941881;gnomADv4_1_AF_joint=0.895667;gnomADv4_1_AF_joint_XX=0.895394;gnomADv4_1_AF_joint_XY=0.895953;gnomADv4_1_AN_grpmax_joint=67930;gnomADv4_1_AN_joint=151918;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=61268;gnomADv4_1_nhomalt_joint_XX=31286;gnomADv4_1_nhomalt_joint_XY=29982;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27498714 chr22_27498714_C_T C T 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=5.275;CADD_Rawscore=0.481856;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs926833|||||||||||||||||||||chr22:g.27498714C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46262;gnomADv4_1_AC_joint_XX=23535;gnomADv4_1_AC_joint_XY=22727;gnomADv4_1_AF_grpmax_joint=0.384204;gnomADv4_1_AF_joint=0.304512;gnomADv4_1_AF_joint_XX=0.303021;gnomADv4_1_AF_joint_XY=0.306071;gnomADv4_1_AN_grpmax_joint=67930;gnomADv4_1_AN_joint=151922;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7913;gnomADv4_1_nhomalt_joint_XX=3971;gnomADv4_1_nhomalt_joint_XY=3942;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27498779 chr22_27498779_G_T G T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.162;CADD_Rawscore=-0.482933;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs738568|||||||||||||||||||||chr22:g.27498779G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=136073;gnomADv4_1_AC_joint_XX=69532;gnomADv4_1_AC_joint_XY=66541;gnomADv4_1_AF_grpmax_joint=0.941955;gnomADv4_1_AF_joint=0.8957;gnomADv4_1_AF_joint_XX=0.895454;gnomADv4_1_AF_joint_XY=0.895958;gnomADv4_1_AN_grpmax_joint=67930;gnomADv4_1_AN_joint=151918;gnomADv4_1_AN_joint_XX=77650;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=61274;gnomADv4_1_nhomalt_joint_XX=31293;gnomADv4_1_nhomalt_joint_XY=29981;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27498793 chr22_27498793_TCTAA_T TCTAA T 47 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=1.984;CADDIndel_Rawscore=0.16184;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs3040872|||||||||||||||||||||chr22:g.27498799_27498802del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=136042;gnomADv4_1_AC_joint_XX=69498;gnomADv4_1_AC_joint_XY=66544;gnomADv4_1_AF_grpmax_joint=0.941871;gnomADv4_1_AF_joint=0.89572;gnomADv4_1_AF_joint_XX=0.895477;gnomADv4_1_AF_joint_XY=0.895974;gnomADv4_1_AN_grpmax_joint=67918;gnomADv4_1_AN_joint=151880;gnomADv4_1_AN_joint_XX=77610;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=61264;gnomADv4_1_nhomalt_joint_XX=31279;gnomADv4_1_nhomalt_joint_XY=29985;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27498856 chr22_27498856_G_C G C 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.021;CADD_Rawscore=-1.04497;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs738567|||||||||||||||||||||chr22:g.27498856G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37666;gnomADv4_1_AC_joint_XX=19338;gnomADv4_1_AC_joint_XY=18328;gnomADv4_1_AF_grpmax_joint=0.543631;gnomADv4_1_AF_joint=0.247845;gnomADv4_1_AF_joint_XX=0.248893;gnomADv4_1_AF_joint_XY=0.246749;gnomADv4_1_AN_grpmax_joint=5134;gnomADv4_1_AN_joint=151974;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5173;gnomADv4_1_nhomalt_joint_XX=2669;gnomADv4_1_nhomalt_joint_XY=2504;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27498886 chr22_27498886_C_T C T 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.106;CADD_Rawscore=0.008457;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs2880495|||||||||||||||||||||chr22:g.27498886C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46318;gnomADv4_1_AC_joint_XX=23571;gnomADv4_1_AC_joint_XY=22747;gnomADv4_1_AF_grpmax_joint=0.384229;gnomADv4_1_AF_joint=0.304772;gnomADv4_1_AF_joint_XX=0.303304;gnomADv4_1_AF_joint_XY=0.306307;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=151976;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7930;gnomADv4_1_nhomalt_joint_XX=3984;gnomADv4_1_nhomalt_joint_XY=3946;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27499344 chr22_27499344_G_A G A 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.631;CADD_Rawscore=-0.135019;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs9625251|||||||||||||||||||||chr22:g.27499344G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46998;gnomADv4_1_AC_joint_XX=23925;gnomADv4_1_AC_joint_XY=23073;gnomADv4_1_AF_grpmax_joint=0.384111;gnomADv4_1_AF_joint=0.309116;gnomADv4_1_AF_joint_XX=0.307741;gnomADv4_1_AF_joint_XY=0.310555;gnomADv4_1_AN_grpmax_joint=67970;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8062;gnomADv4_1_nhomalt_joint_XX=4051;gnomADv4_1_nhomalt_joint_XY=4011;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27499386 chr22_27499386_T_A T A 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=10.74;CADD_Rawscore=1.03591;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs4299423|||||||||||||||||||||chr22:g.27499386T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=144082;gnomADv4_1_AC_joint_XX=73422;gnomADv4_1_AC_joint_XY=70660;gnomADv4_1_AF_grpmax_joint=0.99961;gnomADv4_1_AF_joint=0.946426;gnomADv4_1_AF_joint_XX=0.943558;gnomADv4_1_AF_joint_XY=0.949425;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=68242;gnomADv4_1_nhomalt_joint_XX=34653;gnomADv4_1_nhomalt_joint_XY=33589;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27499448 chr22_27499448_C_T C T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.081;CADD_Rawscore=-0.669866;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs9306443|||||||||||||||||||||chr22:g.27499448C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=132103;gnomADv4_1_AC_joint_XX=67306;gnomADv4_1_AC_joint_XY=64797;gnomADv4_1_AF_grpmax_joint=0.952092;gnomADv4_1_AF_joint=0.86982;gnomADv4_1_AF_joint_XX=0.8671;gnomADv4_1_AF_joint_XY=0.872663;gnomADv4_1_AN_grpmax_joint=5114;gnomADv4_1_AN_joint=151874;gnomADv4_1_AN_joint_XX=77622;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=58689;gnomADv4_1_nhomalt_joint_XX=29828;gnomADv4_1_nhomalt_joint_XY=28861;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27499564 chr22_27499564_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.893;CADD_Rawscore=0.355751;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs8139701|||||||||||||||||||||chr22:g.27499564T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=128286;gnomADv4_1_AC_joint_XX=65475;gnomADv4_1_AC_joint_XY=62811;gnomADv4_1_AF_grpmax_joint=0.924935;gnomADv4_1_AF_joint=0.847768;gnomADv4_1_AF_joint_XX=0.845515;gnomADv4_1_AF_joint_XY=0.85013;gnomADv4_1_AN_grpmax_joint=67888;gnomADv4_1_AN_joint=151322;gnomADv4_1_AN_joint_XX=77438;gnomADv4_1_AN_joint_XY=73884;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=55408;gnomADv4_1_nhomalt_joint_XX=28197;gnomADv4_1_nhomalt_joint_XY=27211;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27499565 chr22_27499565_G_A G A 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.006;CADD_Rawscore=-1.42141;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs9784227|||||||||||||||||||||chr22:g.27499565G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=39746;gnomADv4_1_AC_joint_XX=20293;gnomADv4_1_AC_joint_XY=19453;gnomADv4_1_AF_grpmax_joint=0.335038;gnomADv4_1_AF_joint=0.261952;gnomADv4_1_AF_joint_XX=0.261535;gnomADv4_1_AF_joint_XY=0.262389;gnomADv4_1_AN_grpmax_joint=67834;gnomADv4_1_AN_joint=151730;gnomADv4_1_AN_joint_XX=77592;gnomADv4_1_AN_joint_XY=74138;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5933;gnomADv4_1_nhomalt_joint_XX=3007;gnomADv4_1_nhomalt_joint_XY=2926;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27500050 chr22_27500050_C_T C T 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=4.162;CADD_Rawscore=0.379601;CSQ=T|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs6519716|4869|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27500050C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=XR_938124.2;VEP_Feature_type=Transcript;VEP_Gene=105372981;VEP_SYMBOL=LOC105372981;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35229;gnomADv4_1_AC_joint_XX=18075;gnomADv4_1_AC_joint_XY=17154;gnomADv4_1_AF_grpmax_joint=0.328302;gnomADv4_1_AF_joint=0.231468;gnomADv4_1_AF_joint_XX=0.232368;gnomADv4_1_AF_joint_XY=0.230527;gnomADv4_1_AN_grpmax_joint=67974;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5191;gnomADv4_1_nhomalt_joint_XX=2657;gnomADv4_1_nhomalt_joint_XY=2534;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27500360 chr22_27500360_G_A G A 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.595;CADD_Rawscore=-0.149765;CSQ=A|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs7285001|4559|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27500360G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=XR_938124.2;VEP_Feature_type=Transcript;VEP_Gene=105372981;VEP_SYMBOL=LOC105372981;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=39615;gnomADv4_1_AC_joint_XX=20208;gnomADv4_1_AC_joint_XY=19407;gnomADv4_1_AF_grpmax_joint=0.335221;gnomADv4_1_AF_joint=0.260433;gnomADv4_1_AF_joint_XX=0.25993;gnomADv4_1_AF_joint_XY=0.260959;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=152112;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5910;gnomADv4_1_nhomalt_joint_XX=2990;gnomADv4_1_nhomalt_joint_XY=2920;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27500408 chr22_27500408_G_A G A 65 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=65;CADD_PHREDscore=0.748;CADD_Rawscore=-0.09201;CSQ=A|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs996241|4511|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27500408G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=XR_938124.2;VEP_Feature_type=Transcript;VEP_Gene=105372981;VEP_SYMBOL=LOC105372981;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=95492;gnomADv4_1_AC_joint_XX=48493;gnomADv4_1_AC_joint_XY=46999;gnomADv4_1_AF_grpmax_joint=0.767129;gnomADv4_1_AF_joint=0.627741;gnomADv4_1_AF_joint_XX=0.623496;gnomADv4_1_AF_joint_XY=0.632183;gnomADv4_1_AN_grpmax_joint=67986;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=32724;gnomADv4_1_nhomalt_joint_XX=16540;gnomADv4_1_nhomalt_joint_XY=16184;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27500448 chr22_27500448_C_T C T 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.861;CADD_Rawscore=-0.056452;CSQ=T|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs5762210|4471|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27500448C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=XR_938124.2;VEP_Feature_type=Transcript;VEP_Gene=105372981;VEP_SYMBOL=LOC105372981;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=55816;gnomADv4_1_AC_joint_XX=28253;gnomADv4_1_AC_joint_XY=27563;gnomADv4_1_AF_grpmax_joint=0.455782;gnomADv4_1_AF_joint=0.367017;gnomADv4_1_AF_joint_XX=0.363383;gnomADv4_1_AF_joint_XY=0.370819;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11022;gnomADv4_1_nhomalt_joint_XX=5503;gnomADv4_1_nhomalt_joint_XY=5519;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27500644 chr22_27500644_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.203;CADD_Rawscore=-0.423335;CSQ=A|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs2342930|4275|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27500644G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=XR_938124.2;VEP_Feature_type=Transcript;VEP_Gene=105372981;VEP_SYMBOL=LOC105372981;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36184;gnomADv4_1_AC_joint_XX=18596;gnomADv4_1_AC_joint_XY=17588;gnomADv4_1_AF_grpmax_joint=0.498252;gnomADv4_1_AF_joint=0.237977;gnomADv4_1_AF_joint_XX=0.239251;gnomADv4_1_AF_joint_XY=0.236646;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4791;gnomADv4_1_nhomalt_joint_XX=2481;gnomADv4_1_nhomalt_joint_XY=2310;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27500947 chr22_27500947_G_T G T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.748;CADD_Rawscore=-0.092026;CSQ=T|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs4822893|3972|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27500947G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=XR_938124.2;VEP_Feature_type=Transcript;VEP_Gene=105372981;VEP_SYMBOL=LOC105372981;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=74521;gnomADv4_1_AC_joint_XX=38035;gnomADv4_1_AC_joint_XY=36486;gnomADv4_1_AF_grpmax_joint=0.537484;gnomADv4_1_AF_joint=0.490715;gnomADv4_1_AF_joint_XX=0.489839;gnomADv4_1_AF_joint_XY=0.491632;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=151862;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=18324;gnomADv4_1_nhomalt_joint_XX=9276;gnomADv4_1_nhomalt_joint_XY=9048;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27501034 chr22_27501034_A_G A G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=3.603;CADD_Rawscore=0.329908;CSQ=G|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs4822894|3885|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27501034A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=XR_938124.2;VEP_Feature_type=Transcript;VEP_Gene=105372981;VEP_SYMBOL=LOC105372981;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=73462;gnomADv4_1_AC_joint_XX=37468;gnomADv4_1_AC_joint_XY=35994;gnomADv4_1_AF_grpmax_joint=0.538833;gnomADv4_1_AF_joint=0.48593;gnomADv4_1_AF_joint_XX=0.484421;gnomADv4_1_AF_joint_XY=0.487512;gnomADv4_1_AN_grpmax_joint=4764;gnomADv4_1_AN_joint=151178;gnomADv4_1_AN_joint_XX=77346;gnomADv4_1_AN_joint_XY=73832;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=17845;gnomADv4_1_nhomalt_joint_XX=9011;gnomADv4_1_nhomalt_joint_XY=8834;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27501037 chr22_27501037_T_A T A 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.659;CADD_Rawscore=-0.124149;CSQ=A|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs4822895|3882|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27501037T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=XR_938124.2;VEP_Feature_type=Transcript;VEP_Gene=105372981;VEP_SYMBOL=LOC105372981;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=127909;gnomADv4_1_AC_joint_XX=64817;gnomADv4_1_AC_joint_XY=63092;gnomADv4_1_AF_grpmax_joint=0.92691;gnomADv4_1_AF_joint=0.842282;gnomADv4_1_AF_joint_XX=0.834604;gnomADv4_1_AF_joint_XY=0.850319;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=151860;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74198;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=54034;gnomADv4_1_nhomalt_joint_XX=27096;gnomADv4_1_nhomalt_joint_XY=26938;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27501740 chr22_27501740_T_A T A 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.959;CADD_Rawscore=-0.028607;CSQ=A|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs11703900|3179|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27501740T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=XR_938124.2;VEP_Feature_type=Transcript;VEP_Gene=105372981;VEP_SYMBOL=LOC105372981;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35994;gnomADv4_1_AC_joint_XX=18440;gnomADv4_1_AC_joint_XY=17554;gnomADv4_1_AF_grpmax_joint=0.311479;gnomADv4_1_AF_joint=0.236631;gnomADv4_1_AF_joint_XX=0.23717;gnomADv4_1_AF_joint_XY=0.236068;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4901;gnomADv4_1_nhomalt_joint_XX=2449;gnomADv4_1_nhomalt_joint_XY=2452;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27501925 chr22_27501925_G_C G C 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=1.902;CADD_Rawscore=0.15058;CSQ=C|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs11703087|2994|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27501925G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=XR_938124.2;VEP_Feature_type=Transcript;VEP_Gene=105372981;VEP_SYMBOL=LOC105372981;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35750;gnomADv4_1_AC_joint_XX=18269;gnomADv4_1_AC_joint_XY=17481;gnomADv4_1_AF_grpmax_joint=0.314578;gnomADv4_1_AF_joint=0.235058;gnomADv4_1_AF_joint_XX=0.235001;gnomADv4_1_AF_joint_XY=0.235118;gnomADv4_1_AN_grpmax_joint=67980;gnomADv4_1_AN_joint=152090;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4951;gnomADv4_1_nhomalt_joint_XX=2461;gnomADv4_1_nhomalt_joint_XY=2490;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27502360 chr22_27502360_G_T G T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.927;CADD_Rawscore=0.154145;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs6005480|4823|-1||||||||||||Ensembl||G|G||||chr22:g.27502360G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs6005480|2559|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27502360G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=40963;gnomADv4_1_AC_joint_XX=21272;gnomADv4_1_AC_joint_XY=19691;gnomADv4_1_AF_grpmax_joint=0.559292;gnomADv4_1_AF_joint=0.269508;gnomADv4_1_AF_joint_XX=0.273672;gnomADv4_1_AF_joint_XY=0.265149;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6617;gnomADv4_1_nhomalt_joint_XX=3509;gnomADv4_1_nhomalt_joint_XY=3108;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27502677 chr22_27502677_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.437;CADD_Rawscore=-0.226982;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs6005481|4506|-1||||||||||||Ensembl||T|T||||chr22:g.27502677T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs6005481|2242|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27502677T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=94832;gnomADv4_1_AC_joint_XX=48354;gnomADv4_1_AC_joint_XY=46478;gnomADv4_1_AF_grpmax_joint=0.736138;gnomADv4_1_AF_joint=0.623599;gnomADv4_1_AF_joint_XX=0.622076;gnomADv4_1_AF_joint_XY=0.625192;gnomADv4_1_AN_grpmax_joint=67990;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=31323;gnomADv4_1_nhomalt_joint_XX=15923;gnomADv4_1_nhomalt_joint_XY=15400;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27502832 chr22_27502832_G_A G A 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.053;CADD_Rawscore=-0.784606;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs6005482|4351|-1||||||||||||Ensembl||G|G||||chr22:g.27502832G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs6005482|2087|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27502832G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=92893;gnomADv4_1_AC_joint_XX=47326;gnomADv4_1_AC_joint_XY=45567;gnomADv4_1_AF_grpmax_joint=0.735516;gnomADv4_1_AF_joint=0.611146;gnomADv4_1_AF_joint_XX=0.609086;gnomADv4_1_AF_joint_XY=0.6133;gnomADv4_1_AN_grpmax_joint=67970;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=30455;gnomADv4_1_nhomalt_joint_XX=15458;gnomADv4_1_nhomalt_joint_XY=14997;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27503503 chr22_27503503_T_G T G 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.056;CADD_Rawscore=-0.767984;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs17465171|3680|-1||||||||||||Ensembl||T|T||||chr22:g.27503503T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs17465171|1416|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27503503T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=46900;gnomADv4_1_AC_joint_XX=24098;gnomADv4_1_AC_joint_XY=22802;gnomADv4_1_AF_grpmax_joint=0.416453;gnomADv4_1_AF_joint=0.308167;gnomADv4_1_AF_joint_XX=0.309727;gnomADv4_1_AF_joint_XY=0.306536;gnomADv4_1_AN_grpmax_joint=67998;gnomADv4_1_AN_joint=152190;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8480;gnomADv4_1_nhomalt_joint_XX=4295;gnomADv4_1_nhomalt_joint_XY=4185;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27503718 chr22_27503718_G_A G A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.513;CADD_Rawscore=-0.186703;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs5752568|3465|-1||||||||||||Ensembl||G|G||||chr22:g.27503718G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs5752568|1201|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27503718G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=93307;gnomADv4_1_AC_joint_XX=47666;gnomADv4_1_AC_joint_XY=45641;gnomADv4_1_AF_grpmax_joint=0.748102;gnomADv4_1_AF_joint=0.613418;gnomADv4_1_AF_joint_XX=0.61302;gnomADv4_1_AF_joint_XY=0.613834;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=30946;gnomADv4_1_nhomalt_joint_XX=15755;gnomADv4_1_nhomalt_joint_XY=15191;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27503840 chr22_27503840_G_T G T 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=4.552;CADD_Rawscore=0.41466;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs5762212|3343|-1||||||||||||Ensembl||G|G||||chr22:g.27503840G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs5762212|1079|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27503840G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=36806;gnomADv4_1_AC_joint_XX=18819;gnomADv4_1_AC_joint_XY=17987;gnomADv4_1_AF_grpmax_joint=0.317627;gnomADv4_1_AF_joint=0.241881;gnomADv4_1_AF_joint_XX=0.241945;gnomADv4_1_AF_joint_XY=0.241813;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=152166;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5058;gnomADv4_1_nhomalt_joint_XX=2504;gnomADv4_1_nhomalt_joint_XY=2554;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27503906 chr22_27503906_C_T C T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.074;CADD_Rawscore=-0.692481;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs5762213|3277|-1||||||||||||Ensembl||C|C||||chr22:g.27503906C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs5762213|1013|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27503906C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=105528;gnomADv4_1_AC_joint_XX=53447;gnomADv4_1_AC_joint_XY=52081;gnomADv4_1_AF_grpmax_joint=0.800841;gnomADv4_1_AF_joint=0.693825;gnomADv4_1_AF_joint_XX=0.687457;gnomADv4_1_AF_joint_XY=0.700484;gnomADv4_1_AN_grpmax_joint=67996;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=38616;gnomADv4_1_nhomalt_joint_XX=19364;gnomADv4_1_nhomalt_joint_XY=19252;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27504096 chr22_27504096_G_A G A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.123;CADD_Rawscore=-0.556746;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs2342931|3087|-1||||||||||||Ensembl||G|G||||chr22:g.27504096G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs2342931|823|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27504096G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=113314;gnomADv4_1_AC_joint_XX=58489;gnomADv4_1_AC_joint_XY=54825;gnomADv4_1_AF_grpmax_joint=0.858038;gnomADv4_1_AF_joint=0.744879;gnomADv4_1_AF_joint_XX=0.752193;gnomADv4_1_AF_joint_XY=0.737232;gnomADv4_1_AN_grpmax_joint=68018;gnomADv4_1_AN_joint=152124;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=43755;gnomADv4_1_nhomalt_joint_XX=22741;gnomADv4_1_nhomalt_joint_XY=21014;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27504168 chr22_27504168_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.35;CADD_Rawscore=-0.283164;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs1884131|3015|-1||||||||||||Ensembl||C|C||||chr22:g.27504168C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs1884131|751|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27504168C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=60458;gnomADv4_1_AC_joint_XX=30583;gnomADv4_1_AC_joint_XY=29875;gnomADv4_1_AF_grpmax_joint=0.572537;gnomADv4_1_AF_joint=0.397829;gnomADv4_1_AF_joint_XX=0.393624;gnomADv4_1_AF_joint_XY=0.402227;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151970;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13052;gnomADv4_1_nhomalt_joint_XX=6442;gnomADv4_1_nhomalt_joint_XY=6610;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27504294 chr22_27504294_T_C T C 61 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=61;CADD_PHREDscore=2.059;CADD_Rawscore=0.171582;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs926832|2889|-1||||||||||||Ensembl||T|T||||chr22:g.27504294T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs926832|625|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27504294T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=88737;gnomADv4_1_AC_joint_XX=45477;gnomADv4_1_AC_joint_XY=43260;gnomADv4_1_AF_grpmax_joint=0.801088;gnomADv4_1_AF_joint=0.583535;gnomADv4_1_AF_joint_XX=0.585003;gnomADv4_1_AF_joint_XY=0.581999;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=26211;gnomADv4_1_nhomalt_joint_XX=13416;gnomADv4_1_nhomalt_joint_XY=12795;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27504363 chr22_27504363_A_T A T 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.359;CADD_Rawscore=0.208018;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs926831|2820|-1||||||||||||Ensembl||A|A||||chr22:g.27504363A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs926831|556|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27504363A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=82426;gnomADv4_1_AC_joint_XX=42139;gnomADv4_1_AC_joint_XY=40287;gnomADv4_1_AF_grpmax_joint=0.795322;gnomADv4_1_AF_joint=0.542483;gnomADv4_1_AF_joint_XX=0.542288;gnomADv4_1_AF_joint_XY=0.542688;gnomADv4_1_AN_grpmax_joint=5130;gnomADv4_1_AN_joint=151942;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=22624;gnomADv4_1_nhomalt_joint_XX=11511;gnomADv4_1_nhomalt_joint_XY=11113;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27504885 chr22_27504885_G_A G A 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.034;CADD_Rawscore=-0.903183;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs9613460|2298|-1||||||||||||Ensembl||G|G||||chr22:g.27504885G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs9613460|34|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27504885G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=15219;gnomADv4_1_AC_joint_XX=7407;gnomADv4_1_AC_joint_XY=7812;gnomADv4_1_AF_grpmax_joint=0.444271;gnomADv4_1_AF_joint=0.100026;gnomADv4_1_AF_joint_XX=0.0952375;gnomADv4_1_AF_joint_XY=0.105034;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1224;gnomADv4_1_nhomalt_joint_XX=576;gnomADv4_1_nhomalt_joint_XY=648;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27505000 chr22_27505000_A_C A C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.832;CADD_Rawscore=0.140796;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs738566|2183|-1||||||||||||Ensembl||A|A||||chr22:g.27505000A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA|6/6||XR_938124.2:n.938T>G||938|||||rs738566||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27505000A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=38500;gnomADv4_1_AC_joint_XX=19642;gnomADv4_1_AC_joint_XY=18858;gnomADv4_1_AF_grpmax_joint=0.387666;gnomADv4_1_AF_joint=0.2531;gnomADv4_1_AF_joint_XX=0.252591;gnomADv4_1_AF_joint_XY=0.253631;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5274;gnomADv4_1_nhomalt_joint_XX=2602;gnomADv4_1_nhomalt_joint_XY=2672;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27505593 chr22_27505593_G_C G C 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.439;CADD_Rawscore=-0.225982;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs1155802|1590|-1||||||||||||Ensembl||G|G||||chr22:g.27505593G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||5/5|XR_938124.2:n.734+118C>G|||||||rs1155802||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27505593G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=95475;gnomADv4_1_AC_joint_XX=48457;gnomADv4_1_AC_joint_XY=47018;gnomADv4_1_AF_grpmax_joint=0.860209;gnomADv4_1_AF_joint=0.627795;gnomADv4_1_AF_joint_XX=0.623369;gnomADv4_1_AF_joint_XY=0.632421;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=30382;gnomADv4_1_nhomalt_joint_XX=15279;gnomADv4_1_nhomalt_joint_XY=15103;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27505736 chr22_27505736_TG_T TG T 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.489;CADDIndel_Rawscore=-0.198463;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs5844767|1446|-1||||||||||||Ensembl||G|G||||chr22:g.27505738del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA|5/6||XR_938124.2:n.708del||708|||||rs5844767||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27505738del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=150921;gnomADv4_1_AC_joint_XX=77113;gnomADv4_1_AC_joint_XY=73808;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.991037;gnomADv4_1_AF_joint_XX=0.990839;gnomADv4_1_AF_joint_XY=0.991244;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152286;gnomADv4_1_AN_joint_XX=77826;gnomADv4_1_AN_joint_XY=74460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=74799;gnomADv4_1_nhomalt_joint_XX=38212;gnomADv4_1_nhomalt_joint_XY=36587;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27505843 chr22_27505843_A_G A G 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=5.63;CADD_Rawscore=0.5163;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs738565|1340|-1||||||||||||Ensembl||A|A||||chr22:g.27505843A>G|||||||||||||,G|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||4/5|XR_938124.2:n.605-3T>C|||||||rs738565||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27505843A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=78533;gnomADv4_1_AC_joint_XX=40638;gnomADv4_1_AC_joint_XY=37895;gnomADv4_1_AF_grpmax_joint=0.618535;gnomADv4_1_AF_joint=0.516753;gnomADv4_1_AF_joint_XX=0.523187;gnomADv4_1_AF_joint_XY=0.510027;gnomADv4_1_AN_grpmax_joint=67946;gnomADv4_1_AN_joint=151974;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=21511;gnomADv4_1_nhomalt_joint_XX=11262;gnomADv4_1_nhomalt_joint_XY=10249;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27505957 chr22_27505957_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.143;CADD_Rawscore=-0.515695;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs5762216|1226|-1||||||||||||Ensembl||A|A||||chr22:g.27505957A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||4/5|XR_938124.2:n.605-117T>C|||||||rs5762216||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27505957A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=150968;gnomADv4_1_AC_joint_XX=77131;gnomADv4_1_AC_joint_XY=73837;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.991215;gnomADv4_1_AF_joint_XX=0.990968;gnomADv4_1_AF_joint_XY=0.991473;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152306;gnomADv4_1_AN_joint_XX=77834;gnomADv4_1_AN_joint_XY=74472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=74836;gnomADv4_1_nhomalt_joint_XX=38226;gnomADv4_1_nhomalt_joint_XY=36610;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27506065 chr22_27506065_A_AT A AT 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADDIndel_PHREDscore=0.716;CADDIndel_Rawscore=-0.103104;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs34277786|1117|-1||||||||||||Ensembl|||||||chr22:g.27506082dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||4/5|XR_938124.2:n.605-226dup|||||||rs34277786||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27506082dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=30830;gnomADv4_1_AC_joint_XX=16363;gnomADv4_1_AC_joint_XY=14467;gnomADv4_1_AF_grpmax_joint=0.293238;gnomADv4_1_AF_joint=0.234716;gnomADv4_1_AF_joint_XX=0.237227;gnomADv4_1_AF_joint_XY=0.23194;gnomADv4_1_AN_grpmax_joint=62168;gnomADv4_1_AN_joint=131350;gnomADv4_1_AN_joint_XX=68976;gnomADv4_1_AN_joint_XY=62374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4023;gnomADv4_1_nhomalt_joint_XX=2075;gnomADv4_1_nhomalt_joint_XY=1948;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27506834 chr22_27506834_T_C T C 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.629;CADD_Rawscore=0.237458;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs10427708|349|-1||||||||||||Ensembl||T|T||||chr22:g.27506834T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||4/5|XR_938124.2:n.604+340A>G|||||||rs10427708||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27506834T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=32414;gnomADv4_1_AC_joint_XX=16766;gnomADv4_1_AC_joint_XY=15648;gnomADv4_1_AF_grpmax_joint=0.282879;gnomADv4_1_AF_joint=0.212973;gnomADv4_1_AF_joint_XX=0.215507;gnomADv4_1_AF_joint_XY=0.210323;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3938;gnomADv4_1_nhomalt_joint_XX=1992;gnomADv4_1_nhomalt_joint_XY=1946;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27507020 chr22_27507020_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=5.437;CADD_Rawscore=0.497411;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs6005484|163|-1||||||||||||Ensembl||C|C||||chr22:g.27507020C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||4/5|XR_938124.2:n.604+154G>A|||||||rs6005484||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27507020C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=45027;gnomADv4_1_AC_joint_XX=23336;gnomADv4_1_AC_joint_XY=21691;gnomADv4_1_AF_grpmax_joint=0.338886;gnomADv4_1_AF_joint=0.297122;gnomADv4_1_AF_joint_XX=0.30111;gnomADv4_1_AF_joint_XY=0.292947;gnomADv4_1_AN_grpmax_joint=67840;gnomADv4_1_AN_joint=151544;gnomADv4_1_AN_joint_XX=77500;gnomADv4_1_AN_joint_XY=74044;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7013;gnomADv4_1_nhomalt_joint_XX=3601;gnomADv4_1_nhomalt_joint_XY=3412;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27507155 chr22_27507155_G_T G T 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.565;CADD_Rawscore=0.09927;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs7284384|28|-1||||||||||||Ensembl||G|G||||chr22:g.27507155G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||4/5|XR_938124.2:n.604+19C>A|||||||rs7284384||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27507155G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=35780;gnomADv4_1_AC_joint_XX=18380;gnomADv4_1_AC_joint_XY=17400;gnomADv4_1_AF_grpmax_joint=0.332854;gnomADv4_1_AF_joint=0.235092;gnomADv4_1_AF_joint_XX=0.236253;gnomADv4_1_AF_joint_XY=0.233877;gnomADv4_1_AN_grpmax_joint=15292;gnomADv4_1_AN_joint=152196;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4686;gnomADv4_1_nhomalt_joint_XX=2357;gnomADv4_1_nhomalt_joint_XY=2329;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27507459 chr22_27507459_C_T C T 28 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=28;CADD_PHREDscore=2.359;CADD_Rawscore=0.20802;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||4/4|ENST00000761705.1:n.612-174G>A|||||||rs5752570||-1||||||||||||Ensembl||C|C||||chr22:g.27507459C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||3/5|XR_938124.2:n.493-174G>A|||||||rs5752570||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27507459C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=52068;gnomADv4_1_AC_joint_XX=26297;gnomADv4_1_AC_joint_XY=25771;gnomADv4_1_AF_grpmax_joint=0.781518;gnomADv4_1_AF_joint=0.342697;gnomADv4_1_AF_joint_XX=0.338512;gnomADv4_1_AF_joint_XY=0.347075;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151936;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9686;gnomADv4_1_nhomalt_joint_XX=4849;gnomADv4_1_nhomalt_joint_XY=4837;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27507621 chr22_27507621_C_T C T 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.35;CADD_Rawscore=-0.282577;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||4/4|ENST00000761705.1:n.611+189G>A|||||||rs6005485||-1||||||||||||Ensembl||C|C||||chr22:g.27507621C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||3/5|XR_938124.2:n.492+189G>A|||||||rs6005485||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27507621C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=37160;gnomADv4_1_AC_joint_XX=19119;gnomADv4_1_AC_joint_XY=18041;gnomADv4_1_AF_grpmax_joint=0.337769;gnomADv4_1_AF_joint=0.244689;gnomADv4_1_AF_joint_XX=0.246208;gnomADv4_1_AF_joint_XY=0.243101;gnomADv4_1_AN_grpmax_joint=15256;gnomADv4_1_AN_joint=151866;gnomADv4_1_AN_joint_XX=77654;gnomADv4_1_AN_joint_XY=74212;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4787;gnomADv4_1_nhomalt_joint_XX=2437;gnomADv4_1_nhomalt_joint_XY=2350;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27507622 chr22_27507622_A_T A T 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=3.215;CADD_Rawscore=0.294747;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||4/4|ENST00000761705.1:n.611+188T>A|||||||rs6005486||-1||||||||||||Ensembl||A|A||||chr22:g.27507622A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||3/5|XR_938124.2:n.492+188T>A|||||||rs6005486||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27507622A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=37157;gnomADv4_1_AC_joint_XX=19119;gnomADv4_1_AC_joint_XY=18038;gnomADv4_1_AF_grpmax_joint=0.337505;gnomADv4_1_AF_joint=0.244567;gnomADv4_1_AF_joint_XX=0.246131;gnomADv4_1_AF_joint_XY=0.242929;gnomADv4_1_AN_grpmax_joint=15262;gnomADv4_1_AN_joint=151930;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4787;gnomADv4_1_nhomalt_joint_XX=2437;gnomADv4_1_nhomalt_joint_XY=2350;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27508207 chr22_27508207_A_G A G 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=4.423;CADD_Rawscore=0.402992;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||3/4|ENST00000761705.1:n.452-238T>C|||||||rs13056478||-1||||||||||||Ensembl||A|A||||chr22:g.27508207A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||2/5|XR_938124.2:n.333-238T>C|||||||rs13056478||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27508207A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DWRK|enhancer||||||||||rs13056478|||||||||||||||||||||chr22:g.27508207A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000761705,XR_938124.2,ENSR22_9DWRK;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000224027,105372981,.;VEP_SYMBOL=.,LOC105372981,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=31673;gnomADv4_1_AC_joint_XX=16331;gnomADv4_1_AC_joint_XY=15342;gnomADv4_1_AF_grpmax_joint=0.277278;gnomADv4_1_AF_joint=0.208219;gnomADv4_1_AF_joint_XX=0.20998;gnomADv4_1_AF_joint_XY=0.206376;gnomADv4_1_AN_grpmax_joint=67986;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3785;gnomADv4_1_nhomalt_joint_XX=1905;gnomADv4_1_nhomalt_joint_XY=1880;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27508209 chr22_27508209_C_A C A 54 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=7.361;CADD_Rawscore=0.697629;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||3/4|ENST00000761705.1:n.452-240G>T|||||||rs61057073||-1||||||||||||Ensembl||C|C||||chr22:g.27508209C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||2/5|XR_938124.2:n.333-240G>T|||||||rs61057073||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27508209C>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DWRK|enhancer||||||||||rs61057073|||||||||||||||||||||chr22:g.27508209C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000761705,XR_938124.2,ENSR22_9DWRK;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000224027,105372981,.;VEP_SYMBOL=.,LOC105372981,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=34527;gnomADv4_1_AC_joint_XX=17786;gnomADv4_1_AC_joint_XY=16741;gnomADv4_1_AF_grpmax_joint=0.290532;gnomADv4_1_AF_joint=0.227157;gnomADv4_1_AF_joint_XX=0.228824;gnomADv4_1_AF_joint_XY=0.225413;gnomADv4_1_AN_grpmax_joint=67958;gnomADv4_1_AN_joint=151996;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4361;gnomADv4_1_nhomalt_joint_XX=2214;gnomADv4_1_nhomalt_joint_XY=2147;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27508599 chr22_27508599_T_TAC;chr22_27508599_T_TACACAC T TAC 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.75;AF_XX=.;AF_XY=0.75;AN=4;AN_XX=0;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.426;CADDIndel_Rawscore=-0.233513;CSQ=AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||3/4|ENST00000761705.1:n.451+148_451+149dup|||||||rs61072918||-1||||||||||||Ensembl|||||||chr22:g.27508616_27508617dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||2/5|XR_938124.2:n.332+148_332+149dup|||||||rs61072918||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27508616_27508617dup|||||||||||||;TYPE=INDEL;VEP_Allele=AC,AC;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=43043;gnomADv4_1_AC_joint_XX=21659;gnomADv4_1_AC_joint_XY=21384;gnomADv4_1_AF_grpmax_joint=0.767568;gnomADv4_1_AF_joint=0.327952;gnomADv4_1_AF_joint_XX=0.321933;gnomADv4_1_AF_joint_XY=0.334282;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=131248;gnomADv4_1_AN_joint_XX=67278;gnomADv4_1_AN_joint_XY=63970;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6741;gnomADv4_1_nhomalt_joint_XX=3340;gnomADv4_1_nhomalt_joint_XY=3401;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27508599 chr22_27508599_T_TAC;chr22_27508599_T_TACACAC T TACACAC 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=32;CADDIndel_PHREDscore=0.393;CADDIndel_Rawscore=-0.253408;CSQ=ACACAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||3/4|ENST00000761705.1:n.451+144_451+149dup|||||||rs61072918||-1||||||||||||Ensembl|||||||chr22:g.27508612_27508617dup|||||||||||||,ACACAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||2/5|XR_938124.2:n.332+144_332+149dup|||||||rs61072918||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27508612_27508617dup|||||||||||||;TYPE=INDEL;VEP_Allele=ACACAC,ACACAC;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=33182;gnomADv4_1_AC_joint_XX=17170;gnomADv4_1_AC_joint_XY=16012;gnomADv4_1_AF_grpmax_joint=0.329793;gnomADv4_1_AF_joint=0.252754;gnomADv4_1_AF_joint_XX=0.255157;gnomADv4_1_AF_joint_XY=0.250227;gnomADv4_1_AN_grpmax_joint=57712;gnomADv4_1_AN_joint=131282;gnomADv4_1_AN_joint_XX=67292;gnomADv4_1_AN_joint_XY=63990;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3977;gnomADv4_1_nhomalt_joint_XX=2041;gnomADv4_1_nhomalt_joint_XY=1936;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27508612 chr22_27508612_ACACACG_A ACACACG A 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADDIndel_PHREDscore=1.549;CADDIndel_Rawscore=0.096626;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||3/4|ENST00000761705.1:n.451+131_451+136del|||||||rs142502619||-1||||||||||||Ensembl||CACACG|CACACG||||chr22:g.27508618_27508623del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||2/5|XR_938124.2:n.332+131_332+136del|||||||rs142502619||-1||EntrezGene||||||||||RefSeq||CACACG|CACACG||||chr22:g.27508618_27508623del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=33727;gnomADv4_1_AC_joint_XX=17290;gnomADv4_1_AC_joint_XY=16437;gnomADv4_1_AF_grpmax_joint=0.386021;gnomADv4_1_AF_joint=0.263661;gnomADv4_1_AF_joint_XX=0.263615;gnomADv4_1_AF_joint_XY=0.263709;gnomADv4_1_AN_grpmax_joint=12748;gnomADv4_1_AN_joint=127918;gnomADv4_1_AN_joint_XX=65588;gnomADv4_1_AN_joint_XY=62330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4221;gnomADv4_1_nhomalt_joint_XX=2127;gnomADv4_1_nhomalt_joint_XY=2094;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27508632 chr22_27508632_A_G A G 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.867;CADD_Rawscore=-0.054448;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||3/4|ENST00000761705.1:n.451+117T>C|||||||rs6005489||-1||||||||||||Ensembl||A|A||||chr22:g.27508632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||2/5|XR_938124.2:n.332+117T>C|||||||rs6005489||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27508632A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=37284;gnomADv4_1_AC_joint_XX=19156;gnomADv4_1_AC_joint_XY=18128;gnomADv4_1_AF_grpmax_joint=0.341885;gnomADv4_1_AF_joint=0.247626;gnomADv4_1_AF_joint_XX=0.248566;gnomADv4_1_AF_joint_XY=0.246639;gnomADv4_1_AN_grpmax_joint=15046;gnomADv4_1_AN_joint=150566;gnomADv4_1_AN_joint_XX=77066;gnomADv4_1_AN_joint_XY=73500;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4873;gnomADv4_1_nhomalt_joint_XX=2462;gnomADv4_1_nhomalt_joint_XY=2411;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27508858 chr22_27508858_A_G A G 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.697;CADD_Rawscore=-0.11015;CSQ=G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA|3/5||ENST00000761705.1:n.342T>C||342|||||rs2008329||-1||||||||||||Ensembl||A|A||||chr22:g.27508858A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA|2/6||XR_938124.2:n.223T>C||223|||||rs2008329||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27508858A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=150999;gnomADv4_1_AC_joint_XX=77159;gnomADv4_1_AC_joint_XY=73840;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.991145;gnomADv4_1_AF_joint_XX=0.990997;gnomADv4_1_AF_joint_XY=0.991301;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152348;gnomADv4_1_AN_joint_XX=77860;gnomADv4_1_AN_joint_XY=74488;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=74850;gnomADv4_1_nhomalt_joint_XX=38243;gnomADv4_1_nhomalt_joint_XY=36607;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27508873 chr22_27508873_T_G T G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.155;CADD_Rawscore=-0.494847;CSQ=G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA|3/5||ENST00000761705.1:n.327A>C||327|||||rs4822897||-1||||||||||||Ensembl||T|T||||chr22:g.27508873T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA|2/6||XR_938124.2:n.208A>C||208|||||rs4822897||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27508873T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=73175;gnomADv4_1_AC_joint_XX=37652;gnomADv4_1_AC_joint_XY=35523;gnomADv4_1_AF_grpmax_joint=0.578012;gnomADv4_1_AF_joint=0.480851;gnomADv4_1_AF_joint_XX=0.483922;gnomADv4_1_AF_joint_XY=0.477639;gnomADv4_1_AN_grpmax_joint=68002;gnomADv4_1_AN_joint=152178;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=18658;gnomADv4_1_nhomalt_joint_XX=9665;gnomADv4_1_nhomalt_joint_XY=8993;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27509467 chr22_27509467_T_C T C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.694;CADD_Rawscore=0.522625;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-522A>G|||||||rs742942||-1||||||||||||Ensembl||T|T||||chr22:g.27509467T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-522A>G|||||||rs742942||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27509467T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=52369;gnomADv4_1_AC_joint_XX=26411;gnomADv4_1_AC_joint_XY=25958;gnomADv4_1_AF_grpmax_joint=0.780705;gnomADv4_1_AF_joint=0.344714;gnomADv4_1_AF_joint_XX=0.34005;gnomADv4_1_AF_joint_XY=0.349593;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9796;gnomADv4_1_nhomalt_joint_XX=4884;gnomADv4_1_nhomalt_joint_XY=4912;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27509801 chr22_27509801_C_T C T 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=2.994;CADD_Rawscore=0.273867;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-856G>A|||||||rs8141487||-1||||||||||||Ensembl||C|C||||chr22:g.27509801C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-856G>A|||||||rs8141487||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27509801C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=35143;gnomADv4_1_AC_joint_XX=18148;gnomADv4_1_AC_joint_XY=16995;gnomADv4_1_AF_grpmax_joint=0.344244;gnomADv4_1_AF_joint=0.309047;gnomADv4_1_AF_joint_XX=0.303814;gnomADv4_1_AF_joint_XY=0.314839;gnomADv4_1_AN_grpmax_joint=57346;gnomADv4_1_AN_joint=113714;gnomADv4_1_AN_joint_XX=59734;gnomADv4_1_AN_joint_XY=53980;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4484;gnomADv4_1_nhomalt_joint_XX=2273;gnomADv4_1_nhomalt_joint_XY=2211;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27509809 chr22_27509809_GTT_G;chr22_27509809_GTTT_G GTT G 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=0.367;CADDIndel_Rawscore=-0.27092;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-866_255-865del|||||||rs56349435||-1||||||||||||Ensembl||TT|TT||||chr22:g.27509823_27509824del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-866_136-865del|||||||rs56349435||-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.27509823_27509824del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=132433;gnomADv4_1_AC_joint_XX=68031;gnomADv4_1_AC_joint_XY=64402;gnomADv4_1_AF_grpmax_joint=0.973225;gnomADv4_1_AF_joint=0.893839;gnomADv4_1_AF_joint_XX=0.893053;gnomADv4_1_AF_joint_XY=0.894671;gnomADv4_1_AN_grpmax_joint=5042;gnomADv4_1_AN_joint=148162;gnomADv4_1_AN_joint_XX=76178;gnomADv4_1_AN_joint_XY=71984;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=59396;gnomADv4_1_nhomalt_joint_XX=30486;gnomADv4_1_nhomalt_joint_XY=28910;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27509809 chr22_27509809_GTT_G;chr22_27509809_GTTT_G GTTT G 56 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=4.056;CADDIndel_Rawscore=0.370239;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-867_255-865del|||||||rs56349435||-1||||||||||||Ensembl||TTT|TTT||||chr22:g.27509822_27509824del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-867_136-865del|||||||rs56349435||-1||EntrezGene||||||||||RefSeq||TTT|TTT||||chr22:g.27509822_27509824del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=1691;gnomADv4_1_AC_joint_XX=865;gnomADv4_1_AC_joint_XY=826;gnomADv4_1_AF_grpmax_joint=0.0239726;gnomADv4_1_AF_joint=0.0114226;gnomADv4_1_AF_joint_XX=0.0113627;gnomADv4_1_AF_joint_XY=0.0114859;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=148040;gnomADv4_1_AN_joint_XX=76126;gnomADv4_1_AN_joint_XY=71914;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=13;gnomADv4_1_nhomalt_joint_XX=5;gnomADv4_1_nhomalt_joint_XY=8;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27509865 chr22_27509865_G_T G T 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.078;CADD_Rawscore=0.001561;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-920C>A|||||||rs2024682||-1||||||||||||Ensembl||G|G||||chr22:g.27509865G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-920C>A|||||||rs2024682||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27509865G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=30496;gnomADv4_1_AC_joint_XX=15730;gnomADv4_1_AC_joint_XY=14766;gnomADv4_1_AF_grpmax_joint=0.277068;gnomADv4_1_AF_joint=0.201307;gnomADv4_1_AF_joint_XX=0.202879;gnomADv4_1_AF_joint_XY=0.199659;gnomADv4_1_AN_grpmax_joint=67904;gnomADv4_1_AN_joint=151490;gnomADv4_1_AN_joint_XX=77534;gnomADv4_1_AN_joint_XY=73956;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3668;gnomADv4_1_nhomalt_joint_XX=1844;gnomADv4_1_nhomalt_joint_XY=1824;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27509965 chr22_27509965_C_G C G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.16;CADD_Rawscore=0.020812;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-1020G>C|||||||rs9613463||-1||||||||||||Ensembl||C|C||||chr22:g.27509965C>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-1020G>C|||||||rs9613463||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27509965C>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=28388;gnomADv4_1_AC_joint_XX=14368;gnomADv4_1_AC_joint_XY=14020;gnomADv4_1_AF_grpmax_joint=0.536212;gnomADv4_1_AF_joint=0.186635;gnomADv4_1_AF_joint_XX=0.184797;gnomADv4_1_AF_joint_XY=0.188557;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152104;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3231;gnomADv4_1_nhomalt_joint_XX=1647;gnomADv4_1_nhomalt_joint_XY=1584;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27510283 chr22_27510283_G_C G C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=7.537;CADD_Rawscore=0.717056;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-1338C>G|||||||rs9608617||-1||||||||||||Ensembl||G|G||||chr22:g.27510283G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-1338C>G|||||||rs9608617||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27510283G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=44659;gnomADv4_1_AC_joint_XX=22497;gnomADv4_1_AC_joint_XY=22162;gnomADv4_1_AF_grpmax_joint=0.73141;gnomADv4_1_AF_joint=0.293639;gnomADv4_1_AF_joint_XX=0.289298;gnomADv4_1_AF_joint_XY=0.298181;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7225;gnomADv4_1_nhomalt_joint_XX=3609;gnomADv4_1_nhomalt_joint_XY=3616;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27510295 chr22_27510295_G_C G C 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=9.289;CADD_Rawscore=0.903138;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-1350C>G|||||||rs2024681||-1||||||||||||Ensembl||G|G||||chr22:g.27510295G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-1350C>G|||||||rs2024681||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27510295G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=30847;gnomADv4_1_AC_joint_XX=15884;gnomADv4_1_AC_joint_XY=14963;gnomADv4_1_AF_grpmax_joint=0.277163;gnomADv4_1_AF_joint=0.202645;gnomADv4_1_AF_joint_XX=0.204133;gnomADv4_1_AF_joint_XY=0.201089;gnomADv4_1_AN_grpmax_joint=67996;gnomADv4_1_AN_joint=152222;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3704;gnomADv4_1_nhomalt_joint_XX=1858;gnomADv4_1_nhomalt_joint_XY=1846;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27510725 chr22_27510725_T_C T C 58 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=4.317;CADD_Rawscore=0.393415;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-1780A>G|||||||rs17465632||-1||||||||||||Ensembl||T|T||||chr22:g.27510725T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-1780A>G|||||||rs17465632||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27510725T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=40004;gnomADv4_1_AC_joint_XX=20687;gnomADv4_1_AC_joint_XY=19317;gnomADv4_1_AF_grpmax_joint=0.317401;gnomADv4_1_AF_joint=0.263004;gnomADv4_1_AF_joint_XX=0.266043;gnomADv4_1_AF_joint_XY=0.259826;gnomADv4_1_AN_grpmax_joint=67974;gnomADv4_1_AN_joint=152104;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5625;gnomADv4_1_nhomalt_joint_XX=2898;gnomADv4_1_nhomalt_joint_XY=2727;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27510761 chr22_27510761_A_G A G 56 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.058;CADD_Rawscore=-0.7593;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-1816T>C|||||||rs17465661||-1||||||||||||Ensembl||A|A||||chr22:g.27510761A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-1816T>C|||||||rs17465661||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27510761A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=37902;gnomADv4_1_AC_joint_XX=19563;gnomADv4_1_AC_joint_XY=18339;gnomADv4_1_AF_grpmax_joint=0.296539;gnomADv4_1_AF_joint=0.249244;gnomADv4_1_AF_joint_XX=0.25164;gnomADv4_1_AF_joint_XY=0.246737;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5026;gnomADv4_1_nhomalt_joint_XX=2560;gnomADv4_1_nhomalt_joint_XY=2466;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27512275 chr22_27512275_G_A G A 60 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.015;CADD_Rawscore=-1.14218;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-3330C>T|||||||rs5752571||-1||||||||||||Ensembl||G|G||||chr22:g.27512275G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-3330C>T|||||||rs5752571||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27512275G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7GFF|enhancer||||||||||rs5752571|||||||||||||||||||||chr22:g.27512275G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000761705,XR_938124.2,ENSR22_B7GFF;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000224027,105372981,.;VEP_SYMBOL=.,LOC105372981,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=51325;gnomADv4_1_AC_joint_XX=25927;gnomADv4_1_AC_joint_XY=25398;gnomADv4_1_AF_grpmax_joint=0.772022;gnomADv4_1_AF_joint=0.33762;gnomADv4_1_AF_joint_XX=0.333483;gnomADv4_1_AF_joint_XY=0.34195;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9358;gnomADv4_1_nhomalt_joint_XX=4674;gnomADv4_1_nhomalt_joint_XY=4684;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27512501 chr22_27512501_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=7.468;CADD_Rawscore=0.709486;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-3556T>C|||||||rs5762219||-1||||||||||||Ensembl||A|A||||chr22:g.27512501A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-3556T>C|||||||rs5762219||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27512501A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7GFF|enhancer||||||||||rs5762219|||||||||||||||||||||chr22:g.27512501A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000761705,XR_938124.2,ENSR22_B7GFF;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000224027,105372981,.;VEP_SYMBOL=.,LOC105372981,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=150926;gnomADv4_1_AC_joint_XX=77127;gnomADv4_1_AC_joint_XY=73799;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.99103;gnomADv4_1_AF_joint_XX=0.990891;gnomADv4_1_AF_joint_XY=0.991176;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152292;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=74804;gnomADv4_1_nhomalt_joint_XX=38222;gnomADv4_1_nhomalt_joint_XY=36582;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27512864 chr22_27512868_TTCTCTCTCTCTCTCTCTCTC_T;chr22_27512868_TTCTCTCTCTCTCTCTCTC_T;chr22_27512864_TTCTTTCTCTCTCTCTCTCTCTC_T TTCTTTCTCTCTCTCTCTCTCTC T 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=27;CADDIndel_PHREDscore=4.233;CADDIndel_Rawscore=0.385911;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-3941_255-3920del|||||||rs767538403||-1||||||||||||Ensembl||TCTTTCTCTCTCTCTCTCTCTC|TCTTTCTCTCTCTCTCTCTCTC||||chr22:g.27512868_27512889del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-3941_136-3920del|||||||rs767538403||-1||EntrezGene||||||||||RefSeq||TCTTTCTCTCTCTCTCTCTCTC|TCTTTCTCTCTCTCTCTCTCTC||||chr22:g.27512868_27512889del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7GFF|enhancer||||||||||rs767538403|||||||||||||||||||||chr22:g.27512868_27512889del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000761705,XR_938124.2,ENSR22_B7GFF;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000224027,105372981,.;VEP_SYMBOL=.,LOC105372981,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=26436;gnomADv4_1_AC_joint_XX=13806;gnomADv4_1_AC_joint_XY=12630;gnomADv4_1_AF_grpmax_joint=0.271573;gnomADv4_1_AF_joint=0.208246;gnomADv4_1_AF_joint_XX=0.211101;gnomADv4_1_AF_joint_XY=0.205212;gnomADv4_1_AN_grpmax_joint=59844;gnomADv4_1_AN_joint=126946;gnomADv4_1_AN_joint_XX=65400;gnomADv4_1_AN_joint_XY=61546;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2868;gnomADv4_1_nhomalt_joint_XX=1490;gnomADv4_1_nhomalt_joint_XY=1378;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27512868 chr22_27512868_TTCTCTCTCTCTCTCTCTCTC_T;chr22_27512868_TTCTCTCTCTCTCTCTCTC_T;chr22_27512864_TTCTTTCTCTCTCTCTCTCTCTC_T TTCTCTCTCTCTCTCTCTCTC T 33 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADDIndel_PHREDscore=2.582;CADDIndel_Rawscore=0.232516;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-3943_255-3924del|||||||rs58511927||-1||||||||||||Ensembl||TCTCTCTCTCTCTCTCTCTC|TCTCTCTCTCTCTCTCTCTC||||chr22:g.27512898_27512917del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-3943_136-3924del|||||||rs58511927||-1||EntrezGene||||||||||RefSeq||TCTCTCTCTCTCTCTCTCTC|TCTCTCTCTCTCTCTCTCTC||||chr22:g.27512898_27512917del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7GFF|enhancer||||||||||rs58511927|||||||||||||||||||||chr22:g.27512898_27512917del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000761705,XR_938124.2,ENSR22_B7GFF;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000224027,105372981,.;VEP_SYMBOL=.,LOC105372981,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=2858;gnomADv4_1_AC_joint_XX=1534;gnomADv4_1_AC_joint_XY=1324;gnomADv4_1_AF_grpmax_joint=0.0494096;gnomADv4_1_AF_joint=0.0264277;gnomADv4_1_AF_joint_XX=0.0273255;gnomADv4_1_AF_joint_XY=0.0254586;gnomADv4_1_AN_grpmax_joint=29812;gnomADv4_1_AN_joint=108144;gnomADv4_1_AN_joint_XX=56138;gnomADv4_1_AN_joint_XY=52006;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=79;gnomADv4_1_nhomalt_joint_XX=38;gnomADv4_1_nhomalt_joint_XY=41;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27512868 chr22_27512868_TTCTCTCTCTCTCTCTCTCTC_T;chr22_27512868_TTCTCTCTCTCTCTCTCTC_T;chr22_27512864_TTCTTTCTCTCTCTCTCTCTCTC_T TTCTCTCTCTCTCTCTCTC T 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADDIndel_PHREDscore=2.576;CADDIndel_Rawscore=0.231841;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-3941_255-3924del|||||||rs58511927||-1||||||||||||Ensembl||TCTCTCTCTCTCTCTCTC|TCTCTCTCTCTCTCTCTC||||chr22:g.27512900_27512917del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-3941_136-3924del|||||||rs58511927||-1||EntrezGene||||||||||RefSeq||TCTCTCTCTCTCTCTCTC|TCTCTCTCTCTCTCTCTC||||chr22:g.27512900_27512917del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7GFF|enhancer||||||||||rs58511927|||||||||||||||||||||chr22:g.27512900_27512917del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000761705,XR_938124.2,ENSR22_B7GFF;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000224027,105372981,.;VEP_SYMBOL=.,LOC105372981,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=41708;gnomADv4_1_AC_joint_XX=21138;gnomADv4_1_AC_joint_XY=20570;gnomADv4_1_AF_grpmax_joint=0.727152;gnomADv4_1_AF_joint=0.386271;gnomADv4_1_AF_joint_XX=0.377033;gnomADv4_1_AF_joint_XY=0.396247;gnomADv4_1_AN_grpmax_joint=4508;gnomADv4_1_AN_joint=107976;gnomADv4_1_AN_joint_XX=56064;gnomADv4_1_AN_joint_XY=51912;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6760;gnomADv4_1_nhomalt_joint_XX=3314;gnomADv4_1_nhomalt_joint_XY=3446;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27513145 chr22_27513145_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.807;CADD_Rawscore=-0.072986;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-4200T>C|||||||rs5762222||-1||||||||||||Ensembl||A|A||||chr22:g.27513145A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-4200T>C|||||||rs5762222||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27513145A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=113105;gnomADv4_1_AC_joint_XX=57682;gnomADv4_1_AC_joint_XY=55423;gnomADv4_1_AF_grpmax_joint=0.96637;gnomADv4_1_AF_joint=0.743818;gnomADv4_1_AF_joint_XX=0.741986;gnomADv4_1_AF_joint_XY=0.745735;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152060;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=42279;gnomADv4_1_nhomalt_joint_XX=21449;gnomADv4_1_nhomalt_joint_XY=20830;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27513246 chr22_27513246_C_T C T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.046;CADD_Rawscore=-0.820437;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-4301G>A|||||||rs738564||-1||||||||||||Ensembl||C|C||||chr22:g.27513246C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-4301G>A|||||||rs738564||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27513246C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=151631;gnomADv4_1_AC_joint_XX=77488;gnomADv4_1_AC_joint_XY=74143;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.995437;gnomADv4_1_AF_joint_XX=0.995478;gnomADv4_1_AF_joint_XY=0.995395;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152326;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75474;gnomADv4_1_nhomalt_joint_XX=38570;gnomADv4_1_nhomalt_joint_XY=36904;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27513645 chr22_27513645_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.158;CADD_Rawscore=-0.489013;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-4700A>G|||||||rs5762223||-1||||||||||||Ensembl||T|T||||chr22:g.27513645T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-4700A>G|||||||rs5762223||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27513645T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=150944;gnomADv4_1_AC_joint_XX=77141;gnomADv4_1_AC_joint_XY=73803;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.991149;gnomADv4_1_AF_joint_XX=0.99102;gnomADv4_1_AF_joint_XY=0.991283;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152292;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=74823;gnomADv4_1_nhomalt_joint_XX=38235;gnomADv4_1_nhomalt_joint_XY=36588;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27516210 chr22_27516210_A_G A G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.763;CADD_Rawscore=0.130604;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-7265T>C|||||||rs735746||-1||||||||||||Ensembl||A|A||||chr22:g.27516210A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-7265T>C|||||||rs735746||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27516210A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=57792;gnomADv4_1_AC_joint_XX=29625;gnomADv4_1_AC_joint_XY=28167;gnomADv4_1_AF_grpmax_joint=0.517007;gnomADv4_1_AF_joint=0.381003;gnomADv4_1_AF_joint_XX=0.381893;gnomADv4_1_AF_joint_XY=0.38007;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151684;gnomADv4_1_AN_joint_XX=77574;gnomADv4_1_AN_joint_XY=74110;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11562;gnomADv4_1_nhomalt_joint_XX=5911;gnomADv4_1_nhomalt_joint_XY=5651;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27517051 chr22_27517051_G_A G A 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.423;CADD_Rawscore=-0.235124;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-8106C>T|||||||rs737384||-1||||||||||||Ensembl||G|G||||chr22:g.27517051G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-8106C>T|||||||rs737384||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27517051G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=26878;gnomADv4_1_AC_joint_XX=13712;gnomADv4_1_AC_joint_XY=13166;gnomADv4_1_AF_grpmax_joint=0.526765;gnomADv4_1_AF_joint=0.176734;gnomADv4_1_AF_joint_XX=0.176392;gnomADv4_1_AF_joint_XY=0.177091;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3022;gnomADv4_1_nhomalt_joint_XX=1562;gnomADv4_1_nhomalt_joint_XY=1460;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27517217 chr22_27517217_A_G A G 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.149;CADD_Rawscore=0.018209;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-8272T>C|||||||rs761597||-1||||||||||||Ensembl||A|A||||chr22:g.27517217A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-8272T>C|||||||rs761597||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27517217A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=51383;gnomADv4_1_AC_joint_XX=25953;gnomADv4_1_AC_joint_XY=25430;gnomADv4_1_AF_grpmax_joint=0.772692;gnomADv4_1_AF_joint=0.337997;gnomADv4_1_AF_joint_XX=0.333964;gnomADv4_1_AF_joint_XY=0.342215;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9422;gnomADv4_1_nhomalt_joint_XX=4715;gnomADv4_1_nhomalt_joint_XY=4707;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27517426 chr22_27517426_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.004;CADD_Rawscore=-1.55733;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-8481C>T|||||||rs2207362||-1||||||||||||Ensembl||G|G||||chr22:g.27517426G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-8481C>T|||||||rs2207362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27517426G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=52949;gnomADv4_1_AC_joint_XX=26769;gnomADv4_1_AC_joint_XY=26180;gnomADv4_1_AF_grpmax_joint=0.773046;gnomADv4_1_AF_joint=0.348477;gnomADv4_1_AF_joint_XX=0.344828;gnomADv4_1_AF_joint_XY=0.352289;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=151944;gnomADv4_1_AN_joint_XX=77630;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9991;gnomADv4_1_nhomalt_joint_XX=4998;gnomADv4_1_nhomalt_joint_XY=4993;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27517524 chr22_27517524_T_A T A 54 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.986;CADD_Rawscore=0.162092;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-8579A>T|||||||rs2343420||-1||||||||||||Ensembl||T|T||||chr22:g.27517524T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-8579A>T|||||||rs2343420||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27517524T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=31607;gnomADv4_1_AC_joint_XX=16293;gnomADv4_1_AC_joint_XY=15314;gnomADv4_1_AF_grpmax_joint=0.27588;gnomADv4_1_AF_joint=0.207774;gnomADv4_1_AF_joint_XX=0.209545;gnomADv4_1_AF_joint_XY=0.205922;gnomADv4_1_AN_grpmax_joint=67986;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3754;gnomADv4_1_nhomalt_joint_XX=1889;gnomADv4_1_nhomalt_joint_XY=1865;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27517559 chr22_27517559_CCT_C CCT C 53 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=3.96;CADDIndel_Rawscore=0.361693;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-8616_255-8615del|||||||rs3044425||-1||||||||||||Ensembl||CT|CT||||chr22:g.27517564_27517565del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-8616_136-8615del|||||||rs3044425||-1||EntrezGene||||||||||RefSeq||CT|CT||||chr22:g.27517564_27517565del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=31296;gnomADv4_1_AC_joint_XX=16134;gnomADv4_1_AC_joint_XY=15162;gnomADv4_1_AF_grpmax_joint=0.275065;gnomADv4_1_AF_joint=0.205805;gnomADv4_1_AF_joint_XX=0.20757;gnomADv4_1_AF_joint_XY=0.20396;gnomADv4_1_AN_grpmax_joint=67944;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3689;gnomADv4_1_nhomalt_joint_XX=1859;gnomADv4_1_nhomalt_joint_XY=1830;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27517571 chr22_27517571_C_T C T 57 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=7.435;CADD_Rawscore=0.705823;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-8626G>A|||||||rs4419326||-1||||||||||||Ensembl||C|C||||chr22:g.27517571C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-8626G>A|||||||rs4419326||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27517571C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=31001;gnomADv4_1_AC_joint_XX=16025;gnomADv4_1_AC_joint_XY=14976;gnomADv4_1_AF_grpmax_joint=0.273601;gnomADv4_1_AF_joint=0.203868;gnomADv4_1_AF_joint_XX=0.206136;gnomADv4_1_AF_joint_XY=0.201496;gnomADv4_1_AN_grpmax_joint=67942;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3612;gnomADv4_1_nhomalt_joint_XX=1832;gnomADv4_1_nhomalt_joint_XY=1780;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27518093 chr22_27518093_G_A G A 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.669;CADD_Rawscore=-0.120469;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-9148C>T|||||||rs7288394||-1||||||||||||Ensembl||G|G||||chr22:g.27518093G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-9148C>T|||||||rs7288394||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27518093G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=69130;gnomADv4_1_AC_joint_XX=35608;gnomADv4_1_AC_joint_XY=33522;gnomADv4_1_AF_grpmax_joint=0.567899;gnomADv4_1_AF_joint=0.454755;gnomADv4_1_AF_joint_XX=0.458193;gnomADv4_1_AF_joint_XY=0.451159;gnomADv4_1_AN_grpmax_joint=67954;gnomADv4_1_AN_joint=152016;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=17027;gnomADv4_1_nhomalt_joint_XX=8828;gnomADv4_1_nhomalt_joint_XY=8199;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27518288 chr22_27518288_G_A G A 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.091;CADD_Rawscore=-0.635613;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-9343C>T|||||||rs9613464||-1||||||||||||Ensembl||G|G||||chr22:g.27518288G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-9343C>T|||||||rs9613464||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27518288G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=26782;gnomADv4_1_AC_joint_XX=13667;gnomADv4_1_AC_joint_XY=13115;gnomADv4_1_AF_grpmax_joint=0.525651;gnomADv4_1_AF_joint=0.176012;gnomADv4_1_AF_joint_XX=0.175714;gnomADv4_1_AF_joint_XY=0.176324;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2999;gnomADv4_1_nhomalt_joint_XX=1552;gnomADv4_1_nhomalt_joint_XY=1447;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27519100 chr22_27519100_C_G C G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.942;CADD_Rawscore=0.450418;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-10155G>C|||||||rs9613465||-1||||||||||||Ensembl||C|C||||chr22:g.27519100C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-10155G>C|||||||rs9613465||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27519100C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=57420;gnomADv4_1_AC_joint_XX=29395;gnomADv4_1_AC_joint_XY=28025;gnomADv4_1_AF_grpmax_joint=0.581652;gnomADv4_1_AF_joint=0.377371;gnomADv4_1_AF_joint_XX=0.37808;gnomADv4_1_AF_joint_XY=0.376629;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11082;gnomADv4_1_nhomalt_joint_XX=5625;gnomADv4_1_nhomalt_joint_XY=5457;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27519449 chr22_27519449_TTTTG_T TTTTG T 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.302;CADDIndel_Rawscore=-0.32047;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-10508_255-10505del|||||||rs529476855||-1||||||||||||Ensembl||TTTG|TTTG||||chr22:g.27519461_27519464del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-10508_136-10505del|||||||rs529476855||-1||EntrezGene||||||||||RefSeq||TTTG|TTTG||||chr22:g.27519461_27519464del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=625;gnomADv4_1_AC_joint_XX=341;gnomADv4_1_AC_joint_XY=284;gnomADv4_1_AF_grpmax_joint=0.00594616;gnomADv4_1_AF_joint=0.00410633;gnomADv4_1_AF_joint_XX=0.00438461;gnomADv4_1_AF_joint_XY=0.00381556;gnomADv4_1_AN_grpmax_joint=15304;gnomADv4_1_AN_joint=152204;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27519510 chr22_27519510_G_A G A 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.342;CADD_Rawscore=-0.288799;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-10565C>T|||||||rs9613466||-1||||||||||||Ensembl||G|G||||chr22:g.27519510G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-10565C>T|||||||rs9613466||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27519510G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=24303;gnomADv4_1_AC_joint_XX=12328;gnomADv4_1_AC_joint_XY=11975;gnomADv4_1_AF_grpmax_joint=0.525601;gnomADv4_1_AF_joint=0.159735;gnomADv4_1_AF_joint_XX=0.158539;gnomADv4_1_AF_joint_XY=0.160985;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2500;gnomADv4_1_nhomalt_joint_XX=1287;gnomADv4_1_nhomalt_joint_XY=1213;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27519886 chr22_27519886_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.509;CADD_Rawscore=0.321502;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-10941A>G|||||||rs5762228||-1||||||||||||Ensembl||T|T||||chr22:g.27519886T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-10941A>G|||||||rs5762228||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27519886T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=140077;gnomADv4_1_AC_joint_XX=71348;gnomADv4_1_AC_joint_XY=68729;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.919539;gnomADv4_1_AF_joint_XX=0.916504;gnomADv4_1_AF_joint_XY=0.92271;gnomADv4_1_AN_grpmax_joint=5192;gnomADv4_1_AN_joint=152334;gnomADv4_1_AN_joint_XX=77848;gnomADv4_1_AN_joint_XY=74486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64774;gnomADv4_1_nhomalt_joint_XX=32863;gnomADv4_1_nhomalt_joint_XY=31911;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27520184 chr22_27520184_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.153;CADD_Rawscore=0.019162;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-11239T>C|||||||rs733716||-1||||||||||||Ensembl||A|A||||chr22:g.27520184A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-11239T>C|||||||rs733716||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27520184A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=83101;gnomADv4_1_AC_joint_XX=42340;gnomADv4_1_AC_joint_XY=40761;gnomADv4_1_AF_grpmax_joint=0.751932;gnomADv4_1_AF_joint=0.546365;gnomADv4_1_AF_joint_XX=0.544692;gnomADv4_1_AF_joint_XY=0.548113;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=22927;gnomADv4_1_nhomalt_joint_XX=11556;gnomADv4_1_nhomalt_joint_XY=11371;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27520432 chr22_27520432_A_G A G 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=2.163;CADD_Rawscore=0.184721;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-11487T>C|||||||rs12485124||-1||||||||||||Ensembl||A|A||||chr22:g.27520432A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-11487T>C|||||||rs12485124||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27520432A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=27970;gnomADv4_1_AC_joint_XX=14465;gnomADv4_1_AC_joint_XY=13505;gnomADv4_1_AF_grpmax_joint=0.262805;gnomADv4_1_AF_joint=0.183713;gnomADv4_1_AF_joint_XX=0.185902;gnomADv4_1_AF_joint_XY=0.181426;gnomADv4_1_AN_grpmax_joint=67982;gnomADv4_1_AN_joint=152248;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3242;gnomADv4_1_nhomalt_joint_XX=1655;gnomADv4_1_nhomalt_joint_XY=1587;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27521067 chr22_27521067_T_A T A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.522;CADD_Rawscore=-0.182543;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-12122A>T|||||||rs2880623||-1||||||||||||Ensembl||T|T||||chr22:g.27521067T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-12122A>T|||||||rs2880623||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27521067T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=138698;gnomADv4_1_AC_joint_XX=70665;gnomADv4_1_AC_joint_XY=68033;gnomADv4_1_AF_grpmax_joint=0.991618;gnomADv4_1_AF_joint=0.914412;gnomADv4_1_AF_joint_XX=0.911031;gnomADv4_1_AF_joint_XY=0.917951;gnomADv4_1_AN_grpmax_joint=4772;gnomADv4_1_AN_joint=151680;gnomADv4_1_AN_joint_XX=77566;gnomADv4_1_AN_joint_XY=74114;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=63862;gnomADv4_1_nhomalt_joint_XX=32399;gnomADv4_1_nhomalt_joint_XY=31463;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27521795 chr22_27521795_C_T C T 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.635;CADD_Rawscore=-0.133356;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-12850G>A|||||||rs5762229||-1||||||||||||Ensembl||C|C||||chr22:g.27521795C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-12850G>A|||||||rs5762229||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27521795C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=139824;gnomADv4_1_AC_joint_XX=71224;gnomADv4_1_AC_joint_XY=68600;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.919399;gnomADv4_1_AF_joint_XX=0.916135;gnomADv4_1_AF_joint_XY=0.922812;gnomADv4_1_AN_grpmax_joint=5130;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64646;gnomADv4_1_nhomalt_joint_XX=32795;gnomADv4_1_nhomalt_joint_XY=31851;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27522221 chr22_27522221_A_G A G 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=7.746;CADD_Rawscore=0.740397;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-13276T>C|||||||rs4822898||-1||||||||||||Ensembl||A|A||||chr22:g.27522221A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-13276T>C|||||||rs4822898||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27522221A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=33247;gnomADv4_1_AC_joint_XX=17125;gnomADv4_1_AC_joint_XY=16122;gnomADv4_1_AF_grpmax_joint=0.281117;gnomADv4_1_AF_joint=0.218834;gnomADv4_1_AF_joint_XX=0.22049;gnomADv4_1_AF_joint_XY=0.217102;gnomADv4_1_AN_grpmax_joint=67922;gnomADv4_1_AN_joint=151928;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4075;gnomADv4_1_nhomalt_joint_XX=2064;gnomADv4_1_nhomalt_joint_XY=2011;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27522290 chr22_27522290_G_A G A 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.808;CADD_Rawscore=0.438049;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-13345C>T|||||||rs13056141||-1||||||||||||Ensembl||G|G||||chr22:g.27522290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-13345C>T|||||||rs13056141||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27522290G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=25830;gnomADv4_1_AC_joint_XX=13047;gnomADv4_1_AC_joint_XY=12783;gnomADv4_1_AF_grpmax_joint=0.520761;gnomADv4_1_AF_joint=0.16982;gnomADv4_1_AF_joint_XX=0.167803;gnomADv4_1_AF_joint_XY=0.17193;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2714;gnomADv4_1_nhomalt_joint_XX=1376;gnomADv4_1_nhomalt_joint_XY=1338;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27522876 chr22_27522876_ATG_A ATG A 46 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.653;CADDIndel_Rawscore=-0.126571;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-13933_255-13932del|||||||rs66506842||-1||||||||||||Ensembl||TG|TG||||chr22:g.27522903_27522904del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-13933_136-13932del|||||||rs66506842||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.27522903_27522904del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=32496;gnomADv4_1_AC_joint_XX=16864;gnomADv4_1_AC_joint_XY=15632;gnomADv4_1_AF_grpmax_joint=0.475291;gnomADv4_1_AF_joint=0.224191;gnomADv4_1_AF_joint_XX=0.225702;gnomADv4_1_AF_joint_XY=0.222583;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=144948;gnomADv4_1_AN_joint_XX=74718;gnomADv4_1_AN_joint_XY=70230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4157;gnomADv4_1_nhomalt_joint_XX=2181;gnomADv4_1_nhomalt_joint_XY=1976;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27522899 chr22_27522899_TGTGTGAGA_T TGTGTGAGA T 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADDIndel_PHREDscore=0.833;CADDIndel_Rawscore=-0.064788;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-13962_255-13955del|||||||rs144784059||-1||||||||||||Ensembl||GTGTGAGA|GTGTGAGA||||chr22:g.27522901_27522908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-13962_136-13955del|||||||rs144784059||-1||EntrezGene||||||||||RefSeq||GTGTGAGA|GTGTGAGA||||chr22:g.27522901_27522908del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=32632;gnomADv4_1_AC_joint_XX=16897;gnomADv4_1_AC_joint_XY=15735;gnomADv4_1_AF_grpmax_joint=0.296061;gnomADv4_1_AF_joint=0.220758;gnomADv4_1_AF_joint_XX=0.222939;gnomADv4_1_AF_joint_XY=0.218463;gnomADv4_1_AN_grpmax_joint=66314;gnomADv4_1_AN_joint=147818;gnomADv4_1_AN_joint_XX=75792;gnomADv4_1_AN_joint_XY=72026;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4000;gnomADv4_1_nhomalt_joint_XX=2096;gnomADv4_1_nhomalt_joint_XY=1904;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27524006 chr22_27524006_A_C A C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.271;CADD_Rawscore=-0.347685;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-15061T>G|||||||rs4822899||-1||||||||||||Ensembl||A|A||||chr22:g.27524006A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-15061T>G|||||||rs4822899||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27524006A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=70963;gnomADv4_1_AC_joint_XX=36290;gnomADv4_1_AC_joint_XY=34673;gnomADv4_1_AF_grpmax_joint=0.623539;gnomADv4_1_AF_joint=0.467582;gnomADv4_1_AF_joint_XX=0.467655;gnomADv4_1_AF_joint_XY=0.467505;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=151766;gnomADv4_1_AN_joint_XX=77600;gnomADv4_1_AN_joint_XY=74166;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16875;gnomADv4_1_nhomalt_joint_XX=8575;gnomADv4_1_nhomalt_joint_XY=8300;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27524212 chr22_27524212_T_C T C 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.839;CADD_Rawscore=-0.063018;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-15267A>G|||||||rs5762232||-1||||||||||||Ensembl||T|T||||chr22:g.27524212T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-15267A>G|||||||rs5762232||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27524212T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=16487;gnomADv4_1_AC_joint_XX=8522;gnomADv4_1_AC_joint_XY=7965;gnomADv4_1_AF_grpmax_joint=0.132653;gnomADv4_1_AF_joint=0.108315;gnomADv4_1_AF_joint_XX=0.109546;gnomADv4_1_AF_joint_XY=0.107028;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=966;gnomADv4_1_nhomalt_joint_XX=501;gnomADv4_1_nhomalt_joint_XY=465;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27525830 chr22_27525830_T_C T C 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.135;CADD_Rawscore=-0.530882;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-16885A>G|||||||rs5762233||-1||||||||||||Ensembl||T|T||||chr22:g.27525830T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-16885A>G|||||||rs5762233||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27525830T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=57523;gnomADv4_1_AC_joint_XX=29555;gnomADv4_1_AC_joint_XY=27968;gnomADv4_1_AF_grpmax_joint=0.506803;gnomADv4_1_AF_joint=0.378197;gnomADv4_1_AF_joint_XX=0.380031;gnomADv4_1_AF_joint_XY=0.376278;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11623;gnomADv4_1_nhomalt_joint_XX=5913;gnomADv4_1_nhomalt_joint_XY=5710;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27526181 chr22_27526181_G_GC G GC 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=3.411;CADDIndel_Rawscore=0.312693;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-17237dup|||||||rs529301006||-1||||||||||||Ensembl|||||||chr22:g.27526183dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-17237dup|||||||rs529301006||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27526183dup|||||||||||||;TYPE=INDEL;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=268;gnomADv4_1_AC_joint_XX=151;gnomADv4_1_AC_joint_XY=117;gnomADv4_1_AF_grpmax_joint=0.00340136;gnomADv4_1_AF_joint=0.00176015;gnomADv4_1_AF_joint_XX=0.00194067;gnomADv4_1_AF_joint_XY=0.00157148;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152260;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27526653 chr22_27526653_C_T C T 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=2.697;CADD_Rawscore=0.244485;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-17708G>A|||||||rs1983661||-1||||||||||||Ensembl||C|C||||chr22:g.27526653C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-17708G>A|||||||rs1983661||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27526653C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=19365;gnomADv4_1_AC_joint_XX=9979;gnomADv4_1_AC_joint_XY=9386;gnomADv4_1_AF_grpmax_joint=0.153061;gnomADv4_1_AF_joint=0.127333;gnomADv4_1_AF_joint_XX=0.128354;gnomADv4_1_AF_joint_XY=0.126265;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1309;gnomADv4_1_nhomalt_joint_XX=682;gnomADv4_1_nhomalt_joint_XY=627;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27526746 chr22_27526746_C_T C T 53 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.129;CADD_Rawscore=0.013804;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-17801G>A|||||||rs1983660||-1||||||||||||Ensembl||C|C||||chr22:g.27526746C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-17801G>A|||||||rs1983660||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27526746C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=68357;gnomADv4_1_AC_joint_XX=35003;gnomADv4_1_AC_joint_XY=33354;gnomADv4_1_AF_grpmax_joint=0.571429;gnomADv4_1_AF_joint=0.449551;gnomADv4_1_AF_joint_XX=0.450315;gnomADv4_1_AF_joint_XY=0.448753;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=16233;gnomADv4_1_nhomalt_joint_XX=8259;gnomADv4_1_nhomalt_joint_XY=7974;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27526798 chr22_27526798_C_T C T 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.071;CADD_Rawscore=-0.704708;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-17853G>A|||||||rs1983659||-1||||||||||||Ensembl||C|C||||chr22:g.27526798C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-17853G>A|||||||rs1983659||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27526798C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=65350;gnomADv4_1_AC_joint_XX=33508;gnomADv4_1_AC_joint_XY=31842;gnomADv4_1_AF_grpmax_joint=0.55102;gnomADv4_1_AF_joint=0.42981;gnomADv4_1_AF_joint_XX=0.431004;gnomADv4_1_AF_joint_XY=0.42856;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=14919;gnomADv4_1_nhomalt_joint_XX=7625;gnomADv4_1_nhomalt_joint_XY=7294;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27527101 chr22_27527101_C_T C T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.071;CADD_Rawscore=-0.70313;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-18156G>A|||||||rs538004876||-1||||||||||||Ensembl||C|C||||chr22:g.27527101C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-18156G>A|||||||rs538004876||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27527101C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=259;gnomADv4_1_AC_joint_XX=147;gnomADv4_1_AC_joint_XY=112;gnomADv4_1_AF_grpmax_joint=0.000980777;gnomADv4_1_AF_joint=0.00170119;gnomADv4_1_AF_joint_XX=0.00188912;gnomADv4_1_AF_joint_XY=0.00150473;gnomADv4_1_AN_grpmax_joint=15294;gnomADv4_1_AN_joint=152246;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=3;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27527382 chr22_27527382_G_A G A 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.337;CADD_Rawscore=0.305955;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-18437C>T|||||||rs4822900||-1||||||||||||Ensembl||G|G||||chr22:g.27527382G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-18437C>T|||||||rs4822900||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27527382G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=54817;gnomADv4_1_AC_joint_XX=27804;gnomADv4_1_AC_joint_XY=27013;gnomADv4_1_AF_grpmax_joint=0.662209;gnomADv4_1_AF_joint=0.360548;gnomADv4_1_AF_joint_XX=0.357626;gnomADv4_1_AF_joint_XY=0.363606;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152038;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10403;gnomADv4_1_nhomalt_joint_XX=5196;gnomADv4_1_nhomalt_joint_XY=5207;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27527674 chr22_27527674_T_C T C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=4.854;CADD_Rawscore=0.44223;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-18729A>G|||||||rs8140407||-1||||||||||||Ensembl||T|T||||chr22:g.27527674T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-18729A>G|||||||rs8140407||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27527674T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=36198;gnomADv4_1_AC_joint_XX=18598;gnomADv4_1_AC_joint_XY=17600;gnomADv4_1_AF_grpmax_joint=0.320572;gnomADv4_1_AF_joint=0.23781;gnomADv4_1_AF_joint_XX=0.239043;gnomADv4_1_AF_joint_XY=0.236521;gnomADv4_1_AN_grpmax_joint=67994;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5026;gnomADv4_1_nhomalt_joint_XX=2602;gnomADv4_1_nhomalt_joint_XY=2424;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27528314 chr22_27528314_A_C A C 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.574;CADD_Rawscore=-0.1587;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-19369T>G|||||||rs4822901||-1||||||||||||Ensembl||A|A||||chr22:g.27528314A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-19369T>G|||||||rs4822901||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27528314A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=57218;gnomADv4_1_AC_joint_XX=29035;gnomADv4_1_AC_joint_XY=28183;gnomADv4_1_AF_grpmax_joint=0.660735;gnomADv4_1_AF_joint=0.376142;gnomADv4_1_AF_joint_XX=0.373498;gnomADv4_1_AF_joint_XY=0.378906;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11264;gnomADv4_1_nhomalt_joint_XX=5626;gnomADv4_1_nhomalt_joint_XY=5638;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27528555 chr22_27528555_T_C T C 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.301;CADD_Rawscore=0.050867;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-19610A>G|||||||rs7285940||-1||||||||||||Ensembl||T|T||||chr22:g.27528555T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-19610A>G|||||||rs7285940||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27528555T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=35057;gnomADv4_1_AC_joint_XX=17973;gnomADv4_1_AC_joint_XY=17084;gnomADv4_1_AF_grpmax_joint=0.320531;gnomADv4_1_AF_joint=0.230384;gnomADv4_1_AF_joint_XX=0.231069;gnomADv4_1_AF_joint_XY=0.229667;gnomADv4_1_AN_grpmax_joint=67984;gnomADv4_1_AN_joint=152168;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4906;gnomADv4_1_nhomalt_joint_XX=2527;gnomADv4_1_nhomalt_joint_XY=2379;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27529015 chr22_27529015_C_T C T 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.538;CADD_Rawscore=-0.17476;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-20070G>A|||||||rs17381675||-1||||||||||||Ensembl||C|C||||chr22:g.27529015C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-20070G>A|||||||rs17381675||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27529015C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=34813;gnomADv4_1_AC_joint_XX=17854;gnomADv4_1_AC_joint_XY=16959;gnomADv4_1_AF_grpmax_joint=0.320528;gnomADv4_1_AF_joint=0.228774;gnomADv4_1_AF_joint_XX=0.229509;gnomADv4_1_AF_joint_XY=0.228005;gnomADv4_1_AN_grpmax_joint=67994;gnomADv4_1_AN_joint=152172;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4875;gnomADv4_1_nhomalt_joint_XX=2513;gnomADv4_1_nhomalt_joint_XY=2362;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27529327 chr22_27529327_G_A G A 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.644;CADD_Rawscore=0.333574;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-20382C>T|||||||rs5762235||-1||||||||||||Ensembl||G|G||||chr22:g.27529327G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-20382C>T|||||||rs5762235||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27529327G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=83715;gnomADv4_1_AC_joint_XX=42379;gnomADv4_1_AC_joint_XY=41336;gnomADv4_1_AF_grpmax_joint=0.782887;gnomADv4_1_AF_joint=0.55051;gnomADv4_1_AF_joint_XX=0.544997;gnomADv4_1_AF_joint_XY=0.556279;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23451;gnomADv4_1_nhomalt_joint_XX=11666;gnomADv4_1_nhomalt_joint_XY=11785;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27529643 chr22_27529643_C_G C G 51 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=7.074;CADD_Rawscore=0.666161;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-20698G>C|||||||rs8137397||-1||||||||||||Ensembl||C|C||||chr22:g.27529643C>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-20698G>C|||||||rs8137397||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27529643C>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=83794;gnomADv4_1_AC_joint_XX=42420;gnomADv4_1_AC_joint_XY=41374;gnomADv4_1_AF_grpmax_joint=0.783994;gnomADv4_1_AF_joint=0.551291;gnomADv4_1_AF_joint_XX=0.54582;gnomADv4_1_AF_joint_XY=0.557016;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=151996;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23507;gnomADv4_1_nhomalt_joint_XX=11697;gnomADv4_1_nhomalt_joint_XY=11810;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27529761 chr22_27529761_A_G A G 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.132;CADD_Rawscore=0.014358;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-20816T>C|||||||rs5752574||-1||||||||||||Ensembl||A|A||||chr22:g.27529761A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-20816T>C|||||||rs5752574||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27529761A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=147956;gnomADv4_1_AC_joint_XX=75608;gnomADv4_1_AC_joint_XY=72348;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.971618;gnomADv4_1_AF_joint_XX=0.971451;gnomADv4_1_AF_joint_XY=0.971792;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152278;gnomADv4_1_AN_joint_XX=77830;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72029;gnomADv4_1_nhomalt_joint_XX=36790;gnomADv4_1_nhomalt_joint_XY=35239;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27530319 chr22_27530319_A_C A C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=4.23;CADD_Rawscore=0.385713;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-21374T>G|||||||rs8138856||-1||||||||||||Ensembl||A|A||||chr22:g.27530319A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-21374T>G|||||||rs8138856||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27530319A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=37688;gnomADv4_1_AC_joint_XX=19369;gnomADv4_1_AC_joint_XY=18319;gnomADv4_1_AF_grpmax_joint=0.351205;gnomADv4_1_AF_joint=0.24781;gnomADv4_1_AF_joint_XX=0.24917;gnomADv4_1_AF_joint_XY=0.246389;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5737;gnomADv4_1_nhomalt_joint_XX=2970;gnomADv4_1_nhomalt_joint_XY=2767;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27531065 chr22_27531065_G_A G A 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=8.114;CADD_Rawscore=0.781338;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-22120C>T|||||||rs28499569||-1||||||||||||Ensembl||G|G||||chr22:g.27531065G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-22120C>T|||||||rs28499569||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27531065G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=36635;gnomADv4_1_AC_joint_XX=18969;gnomADv4_1_AC_joint_XY=17666;gnomADv4_1_AF_grpmax_joint=0.342072;gnomADv4_1_AF_joint=0.240785;gnomADv4_1_AF_joint_XX=0.243918;gnomADv4_1_AF_joint_XY=0.23751;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=152148;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5470;gnomADv4_1_nhomalt_joint_XX=2876;gnomADv4_1_nhomalt_joint_XY=2594;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27531337 chr22_27531337_C_T C T 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.408;CADD_Rawscore=-0.243932;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-22392G>A|||||||rs761596||-1||||||||||||Ensembl||C|C||||chr22:g.27531337C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-22392G>A|||||||rs761596||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27531337C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=134949;gnomADv4_1_AC_joint_XX=68767;gnomADv4_1_AC_joint_XY=66182;gnomADv4_1_AF_grpmax_joint=0.999033;gnomADv4_1_AF_joint=0.887274;gnomADv4_1_AF_joint_XX=0.884463;gnomADv4_1_AF_joint_XY=0.890213;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=60485;gnomADv4_1_nhomalt_joint_XX=30711;gnomADv4_1_nhomalt_joint_XY=29774;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27531454 chr22_27531454_T_TA T TA 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.658;CADDIndel_Rawscore=-0.124296;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-22510dup|||||||rs35516645||-1||||||||||||Ensembl|||||||chr22:g.27531465dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-22510dup|||||||rs35516645||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27531465dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=128633;gnomADv4_1_AC_joint_XX=65786;gnomADv4_1_AC_joint_XY=62847;gnomADv4_1_AF_grpmax_joint=0.966918;gnomADv4_1_AF_joint=0.862903;gnomADv4_1_AF_joint_XX=0.859835;gnomADv4_1_AF_joint_XY=0.866138;gnomADv4_1_AN_grpmax_joint=5048;gnomADv4_1_AN_joint=149070;gnomADv4_1_AN_joint_XX=76510;gnomADv4_1_AN_joint_XY=72560;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56156;gnomADv4_1_nhomalt_joint_XX=28615;gnomADv4_1_nhomalt_joint_XY=27541;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27531571 chr22_27531571_C_T C T 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.709;CADD_Rawscore=-0.105682;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-22626G>A|||||||rs2343428||-1||||||||||||Ensembl||C|C||||chr22:g.27531571C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-22626G>A|||||||rs2343428||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27531571C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=139862;gnomADv4_1_AC_joint_XX=71800;gnomADv4_1_AC_joint_XY=68062;gnomADv4_1_AF_grpmax_joint=0.999605;gnomADv4_1_AF_joint=0.941147;gnomADv4_1_AF_joint_XX=0.940776;gnomADv4_1_AF_joint_XY=0.941539;gnomADv4_1_AN_grpmax_joint=5058;gnomADv4_1_AN_joint=148608;gnomADv4_1_AN_joint_XX=76320;gnomADv4_1_AN_joint_XY=72288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=66021;gnomADv4_1_nhomalt_joint_XX=33865;gnomADv4_1_nhomalt_joint_XY=32156;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27531620 chr22_27531620_C_CA C CA 10 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=10;CADDIndel_PHREDscore=0.577;CADDIndel_Rawscore=-0.157239;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-22676dup|||||||rs66785978||-1||||||||||||Ensembl|||||||chr22:g.27531653dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-22676dup|||||||rs66785978||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27531653dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=85;gnomADv4_1_AC_joint_XX=46;gnomADv4_1_AC_joint_XY=39;gnomADv4_1_AF_grpmax_joint=0.0112239;gnomADv4_1_AF_joint=0.00364964;gnomADv4_1_AF_joint_XX=0.00362547;gnomADv4_1_AF_joint_XY=0.00367855;gnomADv4_1_AN_grpmax_joint=7484;gnomADv4_1_AN_joint=23290;gnomADv4_1_AN_joint_XX=12688;gnomADv4_1_AN_joint_XY=10602;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27531637 chr22_27531637_AAAAAAAAAAAAAAAAAGAG_A AAAAAAAAAAAAAAAAAGAG A 42 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADDIndel_PHREDscore=0.757;CADDIndel_Rawscore=-0.089123;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-22711_255-22693del|||||||rs58718909||-1||||||||||||Ensembl||AAAAAAAAAAAAAAAAGAG|AAAAAAAAAAAAAAAAGAG||||chr22:g.27531639_27531657del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-22711_136-22693del|||||||rs58718909||-1||EntrezGene||||||||||RefSeq||AAAAAAAAAAAAAAAAGAG|AAAAAAAAAAAAAAAAGAG||||chr22:g.27531639_27531657del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=79438;gnomADv4_1_AC_joint_XX=41804;gnomADv4_1_AC_joint_XY=37634;gnomADv4_1_AF_grpmax_joint=0.92532;gnomADv4_1_AF_joint=0.698111;gnomADv4_1_AF_joint_XX=0.69329;gnomADv4_1_AF_joint_XY=0.703544;gnomADv4_1_AN_grpmax_joint=4526;gnomADv4_1_AN_joint=113790;gnomADv4_1_AN_joint_XX=60298;gnomADv4_1_AN_joint_XY=53492;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=26843;gnomADv4_1_nhomalt_joint_XX=13923;gnomADv4_1_nhomalt_joint_XY=12920;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27532081 chr22_27532081_C_T C T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.318;CADD_Rawscore=-0.306839;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-23136G>A|||||||rs761599||-1||||||||||||Ensembl||C|C||||chr22:g.27532081C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-23136G>A|||||||rs761599||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27532081C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DX3F|enhancer||||||||||rs761599|||||||||||||||||||||chr22:g.27532081C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000761705,XR_938124.2,ENSR22_9DX3F;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000224027,105372981,.;VEP_SYMBOL=.,LOC105372981,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=135156;gnomADv4_1_AC_joint_XX=68850;gnomADv4_1_AC_joint_XY=66306;gnomADv4_1_AF_grpmax_joint=0.999033;gnomADv4_1_AF_joint=0.887736;gnomADv4_1_AF_joint_XX=0.88503;gnomADv4_1_AF_joint_XY=0.890563;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152248;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=60601;gnomADv4_1_nhomalt_joint_XX=30766;gnomADv4_1_nhomalt_joint_XY=29835;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27532689 chr22_27532689_G_A G A 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.103;CADD_Rawscore=-0.60476;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-23744C>T|||||||rs8142190||-1||||||||||||Ensembl||G|G||||chr22:g.27532689G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-23744C>T|||||||rs8142190||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27532689G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=135093;gnomADv4_1_AC_joint_XX=68832;gnomADv4_1_AC_joint_XY=66261;gnomADv4_1_AF_grpmax_joint=0.998836;gnomADv4_1_AF_joint=0.888676;gnomADv4_1_AF_joint_XX=0.885937;gnomADv4_1_AF_joint_XY=0.89154;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152016;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=60604;gnomADv4_1_nhomalt_joint_XX=30772;gnomADv4_1_nhomalt_joint_XY=29832;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27532691 chr22_27532691_G_A G A 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.664;CADD_Rawscore=0.115313;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-23746C>T|||||||rs8142192||-1||||||||||||Ensembl||G|G||||chr22:g.27532691G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-23746C>T|||||||rs8142192||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27532691G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=135107;gnomADv4_1_AC_joint_XX=68838;gnomADv4_1_AC_joint_XY=66269;gnomADv4_1_AF_grpmax_joint=0.998836;gnomADv4_1_AF_joint=0.888698;gnomADv4_1_AF_joint_XX=0.8859;gnomADv4_1_AF_joint_XY=0.891623;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=60610;gnomADv4_1_nhomalt_joint_XX=30773;gnomADv4_1_nhomalt_joint_XY=29837;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27532778 chr22_27532778_A_G A G 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.296;CADD_Rawscore=0.04985;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-23833T>C|||||||rs137153||-1||||||||||||Ensembl||A|A||||chr22:g.27532778A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-23833T>C|||||||rs137153||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27532778A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=142688;gnomADv4_1_AC_joint_XX=72858;gnomADv4_1_AC_joint_XY=69830;gnomADv4_1_AF_grpmax_joint=0.999611;gnomADv4_1_AF_joint=0.938169;gnomADv4_1_AF_joint_XX=0.937587;gnomADv4_1_AF_joint_XY=0.938777;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67252;gnomADv4_1_nhomalt_joint_XX=34310;gnomADv4_1_nhomalt_joint_XY=32942;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27533309 chr22_27533309_C_T C T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.009;CADD_Rawscore=-1.30527;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-24364G>A|||||||rs2207682||-1||||||||||||Ensembl||C|C||||chr22:g.27533309C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-24364G>A|||||||rs2207682||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27533309C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=135138;gnomADv4_1_AC_joint_XX=68849;gnomADv4_1_AC_joint_XY=66289;gnomADv4_1_AF_grpmax_joint=0.999034;gnomADv4_1_AF_joint=0.887828;gnomADv4_1_AF_joint_XX=0.88504;gnomADv4_1_AF_joint_XY=0.890742;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152212;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=60593;gnomADv4_1_nhomalt_joint_XX=30764;gnomADv4_1_nhomalt_joint_XY=29829;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27533521 chr22_27533521_T_C T C 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.026;CADD_Rawscore=-0.987267;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-24576A>G|||||||rs137152||-1||||||||||||Ensembl||T|T||||chr22:g.27533521T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-24576A>G|||||||rs137152||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27533521T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=144796;gnomADv4_1_AC_joint_XX=73838;gnomADv4_1_AC_joint_XY=70958;gnomADv4_1_AF_grpmax_joint=0.99942;gnomADv4_1_AF_joint=0.950866;gnomADv4_1_AF_joint_XX=0.948733;gnomADv4_1_AF_joint_XY=0.953096;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152278;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=68860;gnomADv4_1_nhomalt_joint_XX=35027;gnomADv4_1_nhomalt_joint_XY=33833;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27533892 chr22_27533892_T_C T C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=9.195;CADD_Rawscore=0.893564;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-24947A>G|||||||rs926937||-1||||||||||||Ensembl||T|T||||chr22:g.27533892T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-24947A>G|||||||rs926937||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27533892T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=135299;gnomADv4_1_AC_joint_XX=68933;gnomADv4_1_AC_joint_XY=66366;gnomADv4_1_AF_grpmax_joint=0.999031;gnomADv4_1_AF_joint=0.88892;gnomADv4_1_AF_joint_XX=0.886119;gnomADv4_1_AF_joint_XY=0.891848;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152206;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=60713;gnomADv4_1_nhomalt_joint_XX=30826;gnomADv4_1_nhomalt_joint_XY=29887;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27534119 chr22_27534119_C_A C A 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.272;CADD_Rawscore=-0.347148;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-25174G>T|||||||rs4820764||-1||||||||||||Ensembl||C|C||||chr22:g.27534119C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-25174G>T|||||||rs4820764||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27534119C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=94487;gnomADv4_1_AC_joint_XX=47999;gnomADv4_1_AC_joint_XY=46488;gnomADv4_1_AF_grpmax_joint=0.963746;gnomADv4_1_AF_joint=0.62174;gnomADv4_1_AF_joint_XX=0.617732;gnomADv4_1_AF_joint_XY=0.625932;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=151972;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=29820;gnomADv4_1_nhomalt_joint_XX=15014;gnomADv4_1_nhomalt_joint_XY=14806;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27534414 chr22_27534414_A_G A G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.009;CADD_Rawscore=-0.015384;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-25469T>C|||||||rs12628847||-1||||||||||||Ensembl||A|A||||chr22:g.27534414A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-25469T>C|||||||rs12628847||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27534414A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=138432;gnomADv4_1_AC_joint_XX=70570;gnomADv4_1_AC_joint_XY=67862;gnomADv4_1_AF_grpmax_joint=0.999034;gnomADv4_1_AF_joint=0.909456;gnomADv4_1_AF_joint_XX=0.907443;gnomADv4_1_AF_joint_XY=0.91156;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=63165;gnomADv4_1_nhomalt_joint_XX=32109;gnomADv4_1_nhomalt_joint_XY=31056;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27534688 chr22_27534688_A_G A G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.363;CADD_Rawscore=-0.273441;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-25743T>C|||||||rs5752576||-1||||||||||||Ensembl||A|A||||chr22:g.27534688A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-25743T>C|||||||rs5752576||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27534688A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=138437;gnomADv4_1_AC_joint_XX=70603;gnomADv4_1_AC_joint_XY=67834;gnomADv4_1_AF_grpmax_joint=0.999035;gnomADv4_1_AF_joint=0.909346;gnomADv4_1_AF_joint_XX=0.907214;gnomADv4_1_AF_joint_XY=0.911576;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=63161;gnomADv4_1_nhomalt_joint_XX=32121;gnomADv4_1_nhomalt_joint_XY=31040;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27534820 chr22_27534820_C_T C T 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=1.043;CADD_Rawscore=-0.006962;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-25875G>A|||||||rs5752577||-1||||||||||||Ensembl||C|C||||chr22:g.27534820C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-25875G>A|||||||rs5752577||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27534820C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DX4B|enhancer||||||||||rs5752577|||||||||||||||||||||chr22:g.27534820C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000761705,XR_938124.2,ENSR22_9DX4B;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000224027,105372981,.;VEP_SYMBOL=.,LOC105372981,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=136761;gnomADv4_1_AC_joint_XX=69696;gnomADv4_1_AC_joint_XY=67065;gnomADv4_1_AF_grpmax_joint=0.999034;gnomADv4_1_AF_joint=0.898467;gnomADv4_1_AF_joint_XX=0.895974;gnomADv4_1_AF_joint_XY=0.901072;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152216;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61834;gnomADv4_1_nhomalt_joint_XX=31412;gnomADv4_1_nhomalt_joint_XY=30422;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27534890 chr22_27534890_C_A C A 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.584;CADD_Rawscore=-0.154397;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-25945G>T|||||||rs11703110||-1||||||||||||Ensembl||C|C||||chr22:g.27534890C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-25945G>T|||||||rs11703110||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27534890C>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DX4B|enhancer||||||||||rs11703110|||||||||||||||||||||chr22:g.27534890C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000761705,XR_938124.2,ENSR22_9DX4B;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000224027,105372981,.;VEP_SYMBOL=.,LOC105372981,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=37524;gnomADv4_1_AC_joint_XX=19420;gnomADv4_1_AC_joint_XY=18104;gnomADv4_1_AF_grpmax_joint=0.37415;gnomADv4_1_AF_joint=0.246755;gnomADv4_1_AF_joint_XX=0.249929;gnomADv4_1_AF_joint_XY=0.243438;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5585;gnomADv4_1_nhomalt_joint_XX=2929;gnomADv4_1_nhomalt_joint_XY=2656;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27534941 chr22_27534941_T_G T G 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.954;CADD_Rawscore=0.157742;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-25996A>C|||||||rs17381914||-1||||||||||||Ensembl||T|T||||chr22:g.27534941T>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.136-25996A>C|||||||rs17381914||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27534941T>G|||1||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DX4B|enhancer||||||||||rs17381914|||||||||||||||||||||chr22:g.27534941T>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000761705,XR_938124.2,ENSR22_9DX4B;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000224027,105372981,.;VEP_SYMBOL=.,LOC105372981,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=27028;gnomADv4_1_AC_joint_XX=13999;gnomADv4_1_AC_joint_XY=13029;gnomADv4_1_AF_grpmax_joint=0.251206;gnomADv4_1_AF_joint=0.177582;gnomADv4_1_AF_joint_XX=0.179936;gnomADv4_1_AF_joint_XY=0.175121;gnomADv4_1_AN_grpmax_joint=67984;gnomADv4_1_AN_joint=152200;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3090;gnomADv4_1_nhomalt_joint_XX=1614;gnomADv4_1_nhomalt_joint_XY=1476;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27535409 chr22_27535409_TA_T TA T 22 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=22;CADDIndel_PHREDscore=0.131;CADDIndel_Rawscore=-0.53858;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-26465del|||||||rs11342167||-1||||||||||||Ensembl||A|A||||chr22:g.27535434del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+25946del|||||||rs11342167||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27535434del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=17755;gnomADv4_1_AC_joint_XX=9780;gnomADv4_1_AC_joint_XY=7975;gnomADv4_1_AF_grpmax_joint=0.370071;gnomADv4_1_AF_joint=0.204174;gnomADv4_1_AF_joint_XX=0.206722;gnomADv4_1_AF_joint_XY=0.201135;gnomADv4_1_AN_grpmax_joint=1978;gnomADv4_1_AN_joint=86960;gnomADv4_1_AN_joint_XX=47310;gnomADv4_1_AN_joint_XY=39650;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1019;gnomADv4_1_nhomalt_joint_XX=554;gnomADv4_1_nhomalt_joint_XY=465;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27535426 chr22_27535426_A_C A C 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=23;CADD_PHREDscore=1.755;CADD_Rawscore=0.129479;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-26481T>G|||||||rs903516418||-1||||||||||||Ensembl||A|A||||chr22:g.27535426A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+25930T>G|||||||rs903516418||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27535426A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=909;gnomADv4_1_AC_joint_XX=477;gnomADv4_1_AC_joint_XY=432;gnomADv4_1_AF_grpmax_joint=0.0103448;gnomADv4_1_AF_joint=0.00612922;gnomADv4_1_AF_joint_XX=0.00628442;gnomADv4_1_AF_joint_XY=0.00596652;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=148306;gnomADv4_1_AN_joint_XX=75902;gnomADv4_1_AN_joint_XY=72404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=10;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=7;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27535428 chr22_27535428_A_C A C 33 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=1.758;CADD_Rawscore=0.129889;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-26483T>G|||||||rs77176872||-1||||||||||||Ensembl||A|A||||chr22:g.27535428A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+25928T>G|||||||rs77176872||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27535428A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=29302;gnomADv4_1_AC_joint_XX=15919;gnomADv4_1_AC_joint_XY=13383;gnomADv4_1_AF_grpmax_joint=0.397436;gnomADv4_1_AF_joint=0.232423;gnomADv4_1_AF_joint_XX=0.24041;gnomADv4_1_AF_joint_XY=0.223587;gnomADv4_1_AN_grpmax_joint=234;gnomADv4_1_AN_joint=126072;gnomADv4_1_AN_joint_XX=66216;gnomADv4_1_AN_joint_XY=59856;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4112;gnomADv4_1_nhomalt_joint_XX=2200;gnomADv4_1_nhomalt_joint_XY=1912;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27535591 chr22_27535591_A_G A G 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.297;CADD_Rawscore=-0.324447;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-26646T>C|||||||rs79880||-1||||||||||||Ensembl||A|A||||chr22:g.27535591A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+25765T>C|||||||rs79880||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27535591A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000761705,XR_938124.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000224027,105372981;VEP_SYMBOL=.,LOC105372981;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=92655;gnomADv4_1_AC_joint_XX=47903;gnomADv4_1_AC_joint_XY=44752;gnomADv4_1_AF_grpmax_joint=0.715704;gnomADv4_1_AF_joint=0.611108;gnomADv4_1_AF_joint_XX=0.617673;gnomADv4_1_AF_joint_XY=0.604234;gnomADv4_1_AN_grpmax_joint=41302;gnomADv4_1_AN_joint=151618;gnomADv4_1_AN_joint_XX=77554;gnomADv4_1_AN_joint_XY=74064;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=28888;gnomADv4_1_nhomalt_joint_XX=15106;gnomADv4_1_nhomalt_joint_XY=13782;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27535737 chr22_27535737_C_CA C CA 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.521;CADDIndel_Rawscore=-0.183066;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-26793dup|||||||rs137149||-1||||||||||||Ensembl|||||||chr22:g.27535745dup|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs137149|4880|-1||||||||||||Ensembl|||||||chr22:g.27535745dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+25618dup|||||||rs137149||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27535745dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=89382;gnomADv4_1_AC_joint_XX=46296;gnomADv4_1_AC_joint_XY=43086;gnomADv4_1_AF_grpmax_joint=0.68005;gnomADv4_1_AF_joint=0.59094;gnomADv4_1_AF_joint_XX=0.597599;gnomADv4_1_AF_joint_XY=0.583948;gnomADv4_1_AN_grpmax_joint=41244;gnomADv4_1_AN_joint=151254;gnomADv4_1_AN_joint_XX=77470;gnomADv4_1_AN_joint_XY=73784;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26864;gnomADv4_1_nhomalt_joint_XX=14113;gnomADv4_1_nhomalt_joint_XY=12751;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27535757 chr22_27535757_GATTA_G GATTA G 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.7;CADDIndel_Rawscore=-0.108801;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-26816_255-26813del|||||||rs137148||-1||||||||||||Ensembl||ATTA|ATTA||||chr22:g.27535774_27535777del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs137148|4857|-1||||||||||||Ensembl||ATTA|ATTA||||chr22:g.27535774_27535777del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+25595_135+25598del|||||||rs137148||-1||EntrezGene||||||||||RefSeq||ATTA|ATTA||||chr22:g.27535774_27535777del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=88916;gnomADv4_1_AC_joint_XX=46073;gnomADv4_1_AC_joint_XY=42843;gnomADv4_1_AF_grpmax_joint=0.677925;gnomADv4_1_AF_joint=0.588637;gnomADv4_1_AF_joint_XX=0.596059;gnomADv4_1_AF_joint_XY=0.580859;gnomADv4_1_AN_grpmax_joint=41124;gnomADv4_1_AN_joint=151054;gnomADv4_1_AN_joint_XX=77296;gnomADv4_1_AN_joint_XY=73758;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26652;gnomADv4_1_nhomalt_joint_XX=14015;gnomADv4_1_nhomalt_joint_XY=12637;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27535881 chr22_27535881_A_C A C 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=3.566;CADD_Rawscore=0.326662;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-26936T>G|||||||rs137147||-1||||||||||||Ensembl||A|A||||chr22:g.27535881A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs137147|4737|-1||||||||||||Ensembl||A|A||||chr22:g.27535881A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+25475T>G|||||||rs137147||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27535881A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=90341;gnomADv4_1_AC_joint_XX=46650;gnomADv4_1_AC_joint_XY=43691;gnomADv4_1_AF_grpmax_joint=0.680637;gnomADv4_1_AF_joint=0.594427;gnomADv4_1_AF_joint_XX=0.600525;gnomADv4_1_AF_joint_XY=0.588051;gnomADv4_1_AN_grpmax_joint=41398;gnomADv4_1_AN_joint=151980;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=27345;gnomADv4_1_nhomalt_joint_XX=14289;gnomADv4_1_nhomalt_joint_XY=13056;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27535963 chr22_27535963_A_C A C 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=1.747;CADD_Rawscore=0.128273;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.255-27018T>G|||||||rs137146||-1||||||||||||Ensembl||A|A||||chr22:g.27535963A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs137146|4655|-1||||||||||||Ensembl||A|A||||chr22:g.27535963A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+25393T>G|||||||rs137146||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27535963A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=90754;gnomADv4_1_AC_joint_XX=46952;gnomADv4_1_AC_joint_XY=43802;gnomADv4_1_AF_grpmax_joint=0.70068;gnomADv4_1_AF_joint=0.59727;gnomADv4_1_AF_joint_XX=0.60432;gnomADv4_1_AF_joint_XY=0.589894;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151948;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=27616;gnomADv4_1_nhomalt_joint_XX=14476;gnomADv4_1_nhomalt_joint_XY=13140;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27536702 chr22_27536702_G_C G C 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.05;CADD_Rawscore=-0.005135;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+27072C>G|||||||rs2207681||-1||||||||||||Ensembl||G|G||||chr22:g.27536702G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs2207681|3916|-1||||||||||||Ensembl||G|G||||chr22:g.27536702G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+24654C>G|||||||rs2207681||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27536702G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=86163;gnomADv4_1_AC_joint_XX=44592;gnomADv4_1_AC_joint_XY=41571;gnomADv4_1_AF_grpmax_joint=0.673469;gnomADv4_1_AF_joint=0.567519;gnomADv4_1_AF_joint_XX=0.574417;gnomADv4_1_AF_joint_XY=0.560301;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151824;gnomADv4_1_AN_joint_XX=77630;gnomADv4_1_AN_joint_XY=74194;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=24724;gnomADv4_1_nhomalt_joint_XX=12973;gnomADv4_1_nhomalt_joint_XY=11751;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27538329 chr22_27538329_A_G A G 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=6.962;CADD_Rawscore=0.653996;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+25445T>C|||||||rs5997265||-1||||||||||||Ensembl||A|A||||chr22:g.27538329A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs5997265|2289|-1||||||||||||Ensembl||A|A||||chr22:g.27538329A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+23027T>C|||||||rs5997265||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27538329A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=33859;gnomADv4_1_AC_joint_XX=17582;gnomADv4_1_AC_joint_XY=16277;gnomADv4_1_AF_grpmax_joint=0.258503;gnomADv4_1_AF_joint=0.222555;gnomADv4_1_AF_joint_XX=0.226048;gnomADv4_1_AF_joint_XY=0.2189;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3832;gnomADv4_1_nhomalt_joint_XX=2025;gnomADv4_1_nhomalt_joint_XY=1807;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27539324 chr22_27539324_G_A G A 59 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.445;CADD_Rawscore=-0.222211;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+24450C>T|||||||rs6005502||-1||||||||||||Ensembl||G|G||||chr22:g.27539324G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs6005502|1294|-1||||||||||||Ensembl||G|G||||chr22:g.27539324G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+22032C>T|||||||rs6005502||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27539324G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=111289;gnomADv4_1_AC_joint_XX=56613;gnomADv4_1_AC_joint_XY=54676;gnomADv4_1_AF_grpmax_joint=0.942464;gnomADv4_1_AF_joint=0.731722;gnomADv4_1_AF_joint_XX=0.728329;gnomADv4_1_AF_joint_XY=0.735268;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41850;gnomADv4_1_nhomalt_joint_XX=21181;gnomADv4_1_nhomalt_joint_XY=20669;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27539760 chr22_27539760_T_C T C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.588;CADD_Rawscore=-0.152577;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+24014A>G|||||||rs137144||-1||||||||||||Ensembl||T|T||||chr22:g.27539760T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs137144|858|-1||||||||||||Ensembl||T|T||||chr22:g.27539760T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+21596A>G|||||||rs137144||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27539760T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=110716;gnomADv4_1_AC_joint_XX=56336;gnomADv4_1_AC_joint_XY=54380;gnomADv4_1_AF_grpmax_joint=0.938036;gnomADv4_1_AF_joint=0.728136;gnomADv4_1_AF_joint_XX=0.724747;gnomADv4_1_AF_joint_XY=0.731681;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=152054;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41429;gnomADv4_1_nhomalt_joint_XX=20986;gnomADv4_1_nhomalt_joint_XY=20443;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27541124 chr22_27541124_G_A G A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=4.015;CADD_Rawscore=0.366569;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+22650C>T|||||||rs738757||-1||||||||||||Ensembl||G|G||||chr22:g.27541124G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA|4/4||ENST00000761706.1:n.614C>T||614|||||rs738757||-1||||||||||||Ensembl||G|G||||chr22:g.27541124G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+20232C>T|||||||rs738757||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27541124G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=37302;gnomADv4_1_AC_joint_XX=19371;gnomADv4_1_AC_joint_XY=17931;gnomADv4_1_AF_grpmax_joint=0.428082;gnomADv4_1_AF_joint=0.246124;gnomADv4_1_AF_joint_XX=0.249761;gnomADv4_1_AF_joint_XY=0.242311;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151558;gnomADv4_1_AN_joint_XX=77558;gnomADv4_1_AN_joint_XY=74000;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5516;gnomADv4_1_nhomalt_joint_XX=2880;gnomADv4_1_nhomalt_joint_XY=2636;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27544099 chr22_27544099_G_C G C 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=5.209;CADD_Rawscore=0.475566;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+19675C>G|||||||rs11703129||-1||||||||||||Ensembl||G|G||||chr22:g.27544099G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||3/3|ENST00000761706.1:n.338-2699C>G|||||||rs11703129||-1||||||||||||Ensembl||G|G||||chr22:g.27544099G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+17257C>G|||||||rs11703129||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27544099G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=36280;gnomADv4_1_AC_joint_XX=18995;gnomADv4_1_AC_joint_XY=17285;gnomADv4_1_AF_grpmax_joint=0.44863;gnomADv4_1_AF_joint=0.238471;gnomADv4_1_AF_joint_XX=0.244227;gnomADv4_1_AF_joint_XY=0.23245;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5498;gnomADv4_1_nhomalt_joint_XX=2921;gnomADv4_1_nhomalt_joint_XY=2577;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27544749 chr22_27544749_GA_G GA G 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=23;CADDIndel_PHREDscore=0.5;CADDIndel_Rawscore=-0.192993;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+19024del|||||||rs202030632||-1||||||||||||Ensembl||A|A||||chr22:g.27544761del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||3/3|ENST00000761706.1:n.338-3350del|||||||rs202030632||-1||||||||||||Ensembl||A|A||||chr22:g.27544761del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+16606del|||||||rs202030632||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27544761del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=16085;gnomADv4_1_AC_joint_XX=9173;gnomADv4_1_AC_joint_XY=6912;gnomADv4_1_AF_grpmax_joint=0.229204;gnomADv4_1_AF_joint=0.164907;gnomADv4_1_AF_joint_XX=0.174544;gnomADv4_1_AF_joint_XY=0.153648;gnomADv4_1_AN_grpmax_joint=49890;gnomADv4_1_AN_joint=97540;gnomADv4_1_AN_joint_XX=52554;gnomADv4_1_AN_joint_XY=44986;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1219;gnomADv4_1_nhomalt_joint_XX=690;gnomADv4_1_nhomalt_joint_XY=529;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27545765 chr22_27545765_T_C T C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.121;CADD_Rawscore=0.011766;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+18009A>G|||||||rs12628909||-1||||||||||||Ensembl||T|T||||chr22:g.27545765T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||3/3|ENST00000761706.1:n.338-4365A>G|||||||rs12628909||-1||||||||||||Ensembl||T|T||||chr22:g.27545765T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+15591A>G|||||||rs12628909||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27545765T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=94996;gnomADv4_1_AC_joint_XX=48685;gnomADv4_1_AC_joint_XY=46311;gnomADv4_1_AF_grpmax_joint=0.743654;gnomADv4_1_AF_joint=0.624982;gnomADv4_1_AF_joint_XX=0.62648;gnomADv4_1_AF_joint_XY=0.623415;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=29950;gnomADv4_1_nhomalt_joint_XX=15395;gnomADv4_1_nhomalt_joint_XY=14555;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27546358 chr22_27546358_C_T C T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=5.918;CADD_Rawscore=0.544888;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+17416G>A|||||||rs9620702||-1||||||||||||Ensembl||C|C||||chr22:g.27546358C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||3/3|ENST00000761706.1:n.338-4958G>A|||||||rs9620702||-1||||||||||||Ensembl||C|C||||chr22:g.27546358C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+14998G>A|||||||rs9620702||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27546358C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=58887;gnomADv4_1_AC_joint_XX=30298;gnomADv4_1_AC_joint_XY=28589;gnomADv4_1_AF_grpmax_joint=0.426047;gnomADv4_1_AF_joint=0.38744;gnomADv4_1_AF_joint_XX=0.389936;gnomADv4_1_AF_joint_XY=0.38483;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11724;gnomADv4_1_nhomalt_joint_XX=6076;gnomADv4_1_nhomalt_joint_XY=5648;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27546993 chr22_27546993_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.992;CADD_Rawscore=-0.01979;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+16781C>T|||||||rs749221394||-1||||||||||||Ensembl||G|G||||chr22:g.27546993G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||3/3|ENST00000761706.1:n.338-5593C>T|||||||rs749221394||-1||||||||||||Ensembl||G|G||||chr22:g.27546993G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+14363C>T|||||||rs749221394||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27546993G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=268;gnomADv4_1_AC_joint_XX=149;gnomADv4_1_AC_joint_XY=119;gnomADv4_1_AF_grpmax_joint=0.00104959;gnomADv4_1_AF_joint=0.00176446;gnomADv4_1_AF_joint_XX=0.00191857;gnomADv4_1_AF_joint_XY=0.00160321;gnomADv4_1_AN_grpmax_joint=15244;gnomADv4_1_AN_joint=151888;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=3;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27547291 chr22_27547291_CAT_C CAT C 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=1.6;CADDIndel_Rawscore=0.104999;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+16481_254+16482del|||||||rs34761019||-1||||||||||||Ensembl||AT|AT||||chr22:g.27547309_27547310del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||3/3|ENST00000761706.1:n.338-5893_338-5892del|||||||rs34761019||-1||||||||||||Ensembl||AT|AT||||chr22:g.27547309_27547310del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+14063_135+14064del|||||||rs34761019||-1||EntrezGene||||||||||RefSeq||AT|AT||||chr22:g.27547309_27547310del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=62007;gnomADv4_1_AC_joint_XX=31964;gnomADv4_1_AC_joint_XY=30043;gnomADv4_1_AF_grpmax_joint=0.477972;gnomADv4_1_AF_joint=0.419204;gnomADv4_1_AF_joint_XX=0.421311;gnomADv4_1_AF_joint_XY=0.416986;gnomADv4_1_AN_grpmax_joint=14890;gnomADv4_1_AN_joint=147916;gnomADv4_1_AN_joint_XX=75868;gnomADv4_1_AN_joint_XY=72048;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=12832;gnomADv4_1_nhomalt_joint_XX=6673;gnomADv4_1_nhomalt_joint_XY=6159;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27547900 chr22_27547900_G_A G A 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.338;CADD_Rawscore=0.058182;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+15874C>T|||||||rs11703448||-1||||||||||||Ensembl||G|G||||chr22:g.27547900G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||3/3|ENST00000761706.1:n.337+5628C>T|||||||rs11703448||-1||||||||||||Ensembl||G|G||||chr22:g.27547900G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+13456C>T|||||||rs11703448||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27547900G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=56468;gnomADv4_1_AC_joint_XX=29506;gnomADv4_1_AC_joint_XY=26962;gnomADv4_1_AF_grpmax_joint=0.43428;gnomADv4_1_AF_joint=0.402423;gnomADv4_1_AF_joint_XX=0.404314;gnomADv4_1_AF_joint_XY=0.400374;gnomADv4_1_AN_grpmax_joint=13314;gnomADv4_1_AN_joint=140320;gnomADv4_1_AN_joint_XX=72978;gnomADv4_1_AN_joint_XY=67342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=11380;gnomADv4_1_nhomalt_joint_XX=5999;gnomADv4_1_nhomalt_joint_XY=5381;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27547930 chr22_27547930_CAA_C CAA C 33 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=33;CADDIndel_PHREDscore=0.818;CADDIndel_Rawscore=-0.069416;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+15842_254+15843del|||||||rs34521676||-1||||||||||||Ensembl||AA|AA||||chr22:g.27547955_27547956del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||3/3|ENST00000761706.1:n.337+5596_337+5597del|||||||rs34521676||-1||||||||||||Ensembl||AA|AA||||chr22:g.27547955_27547956del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+13424_135+13425del|||||||rs34521676||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.27547955_27547956del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=15649;gnomADv4_1_AC_joint_XX=8892;gnomADv4_1_AC_joint_XY=6757;gnomADv4_1_AF_grpmax_joint=0.289466;gnomADv4_1_AF_joint=0.272517;gnomADv4_1_AF_joint_XX=0.27328;gnomADv4_1_AF_joint_XY=0.271518;gnomADv4_1_AN_grpmax_joint=34954;gnomADv4_1_AN_joint=57424;gnomADv4_1_AN_joint_XX=32538;gnomADv4_1_AN_joint_XY=24886;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=521;gnomADv4_1_nhomalt_joint_XX=274;gnomADv4_1_nhomalt_joint_XY=247;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27549880 chr22_27549880_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.084;CADD_Rawscore=-0.660114;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+13894C>T|||||||rs11090496||-1||||||||||||Ensembl||G|G||||chr22:g.27549880G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||3/3|ENST00000761706.1:n.337+3648C>T|||||||rs11090496||-1||||||||||||Ensembl||G|G||||chr22:g.27549880G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+11476C>T|||||||rs11090496||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27549880G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=54731;gnomADv4_1_AC_joint_XX=28460;gnomADv4_1_AC_joint_XY=26271;gnomADv4_1_AF_grpmax_joint=0.417057;gnomADv4_1_AF_joint=0.361137;gnomADv4_1_AF_joint_XX=0.367141;gnomADv4_1_AF_joint_XY=0.35485;gnomADv4_1_AN_grpmax_joint=67878;gnomADv4_1_AN_joint=151552;gnomADv4_1_AN_joint_XX=77518;gnomADv4_1_AN_joint_XY=74034;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10228;gnomADv4_1_nhomalt_joint_XX=5361;gnomADv4_1_nhomalt_joint_XY=4867;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27550767 chr22_27550767_A_C A C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.326;CADD_Rawscore=0.304892;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+13007T>G|||||||rs61704500||-1||||||||||||Ensembl||A|A||||chr22:g.27550767A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||3/3|ENST00000761706.1:n.337+2761T>G|||||||rs61704500||-1||||||||||||Ensembl||A|A||||chr22:g.27550767A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+10589T>G|||||||rs61704500||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27550767A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=43472;gnomADv4_1_AC_joint_XX=22291;gnomADv4_1_AC_joint_XY=21181;gnomADv4_1_AF_grpmax_joint=0.351841;gnomADv4_1_AF_joint=0.285981;gnomADv4_1_AF_joint_XX=0.286863;gnomADv4_1_AF_joint_XY=0.285059;gnomADv4_1_AN_grpmax_joint=67954;gnomADv4_1_AN_joint=152010;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6939;gnomADv4_1_nhomalt_joint_XX=3554;gnomADv4_1_nhomalt_joint_XY=3385;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27551025 chr22_27551025_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.084;CADD_Rawscore=-0.657303;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+12749A>G|||||||rs910545||-1||||||||||||Ensembl||T|T||||chr22:g.27551025T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||3/3|ENST00000761706.1:n.337+2503A>G|||||||rs910545||-1||||||||||||Ensembl||T|T||||chr22:g.27551025T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+10331A>G|||||||rs910545||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27551025T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=54900;gnomADv4_1_AC_joint_XX=27910;gnomADv4_1_AC_joint_XY=26990;gnomADv4_1_AF_grpmax_joint=0.687184;gnomADv4_1_AF_joint=0.360885;gnomADv4_1_AF_joint_XX=0.35886;gnomADv4_1_AF_joint_XY=0.363003;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10410;gnomADv4_1_nhomalt_joint_XX=5183;gnomADv4_1_nhomalt_joint_XY=5227;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27551899 chr22_27551899_A_T A T 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=0.795;CADD_Rawscore=-0.076849;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+11875T>A|||||||rs11090497||-1||||||||||||Ensembl||A|A||||chr22:g.27551899A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||3/3|ENST00000761706.1:n.337+1629T>A|||||||rs11090497||-1||||||||||||Ensembl||A|A||||chr22:g.27551899A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+9457T>A|||||||rs11090497||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27551899A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=38117;gnomADv4_1_AC_joint_XX=19363;gnomADv4_1_AC_joint_XY=18754;gnomADv4_1_AF_grpmax_joint=0.323129;gnomADv4_1_AF_joint=0.250684;gnomADv4_1_AF_joint_XX=0.249029;gnomADv4_1_AF_joint_XY=0.252416;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152052;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4853;gnomADv4_1_nhomalt_joint_XX=2437;gnomADv4_1_nhomalt_joint_XY=2416;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27552123 chr22_27552123_A_G A G 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.34;CADD_Rawscore=-0.290529;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+11651T>C|||||||rs12168010||-1||||||||||||Ensembl||A|A||||chr22:g.27552123A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||3/3|ENST00000761706.1:n.337+1405T>C|||||||rs12168010||-1||||||||||||Ensembl||A|A||||chr22:g.27552123A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+9233T>C|||||||rs12168010||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27552123A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=33188;gnomADv4_1_AC_joint_XX=16653;gnomADv4_1_AC_joint_XY=16535;gnomADv4_1_AF_grpmax_joint=0.426579;gnomADv4_1_AF_joint=0.218311;gnomADv4_1_AF_joint_XX=0.214214;gnomADv4_1_AF_joint_XY=0.222598;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3969;gnomADv4_1_nhomalt_joint_XX=1923;gnomADv4_1_nhomalt_joint_XY=2046;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27553168 chr22_27553168_T_A T A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.198;CADD_Rawscore=0.189029;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+10606A>T|||||||rs1079973||-1||||||||||||Ensembl||T|T||||chr22:g.27553168T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||3/3|ENST00000761706.1:n.337+360A>T|||||||rs1079973||-1||||||||||||Ensembl||T|T||||chr22:g.27553168T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+8188A>T|||||||rs1079973||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27553168T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=69859;gnomADv4_1_AC_joint_XX=35672;gnomADv4_1_AC_joint_XY=34187;gnomADv4_1_AF_grpmax_joint=0.676345;gnomADv4_1_AF_joint=0.459357;gnomADv4_1_AF_joint_XX=0.458863;gnomADv4_1_AF_joint_XY=0.459874;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16461;gnomADv4_1_nhomalt_joint_XX=8394;gnomADv4_1_nhomalt_joint_XY=8067;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27553345 chr22_27553345_G_C G C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.164;CADD_Rawscore=-0.478777;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+10429C>G|||||||rs5762247||-1||||||||||||Ensembl||G|G||||chr22:g.27553345G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||3/3|ENST00000761706.1:n.337+183C>G|||||||rs5762247||-1||||||||||||Ensembl||G|G||||chr22:g.27553345G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+8011C>G|||||||rs5762247||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27553345G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=27607;gnomADv4_1_AC_joint_XX=13721;gnomADv4_1_AC_joint_XY=13886;gnomADv4_1_AF_grpmax_joint=0.428793;gnomADv4_1_AF_joint=0.181484;gnomADv4_1_AF_joint_XX=0.176458;gnomADv4_1_AF_joint_XY=0.18674;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2764;gnomADv4_1_nhomalt_joint_XX=1332;gnomADv4_1_nhomalt_joint_XY=1432;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27554592 chr22_27554592_G_A G A 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=7.729;CADD_Rawscore=0.738503;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+9182C>T|||||||rs17382280||-1||||||||||||Ensembl||G|G||||chr22:g.27554592G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||2/3|ENST00000761706.1:n.232-959C>T|||||||rs17382280||-1||||||||||||Ensembl||G|G||||chr22:g.27554592G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+6764C>T|||||||rs17382280||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27554592G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7GMH|enhancer||||||||||rs17382280|||||||||||||||||||||chr22:g.27554592G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2,ENSR22_B7GMH;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981,.;VEP_SYMBOL=.,.,LOC105372981,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=18749;gnomADv4_1_AC_joint_XX=9754;gnomADv4_1_AC_joint_XY=8995;gnomADv4_1_AF_grpmax_joint=0.197279;gnomADv4_1_AF_joint=0.123224;gnomADv4_1_AF_joint_XX=0.125382;gnomADv4_1_AF_joint_XY=0.120966;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1482;gnomADv4_1_nhomalt_joint_XX=788;gnomADv4_1_nhomalt_joint_XY=694;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27555200 chr22_27555200_C_G C G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.683;CADD_Rawscore=-0.115207;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+8574G>C|||||||rs56357453||-1||||||||||||Ensembl||C|C||||chr22:g.27555200C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||2/3|ENST00000761706.1:n.232-1567G>C|||||||rs56357453||-1||||||||||||Ensembl||C|C||||chr22:g.27555200C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+6156G>C|||||||rs56357453||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27555200C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=9919;gnomADv4_1_AC_joint_XX=4816;gnomADv4_1_AC_joint_XY=5103;gnomADv4_1_AF_grpmax_joint=0.222222;gnomADv4_1_AF_joint=0.065164;gnomADv4_1_AF_joint_XX=0.0619087;gnomADv4_1_AF_joint_XY=0.0685666;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152216;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=455;gnomADv4_1_nhomalt_joint_XX=215;gnomADv4_1_nhomalt_joint_XY=240;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27556647 chr22_27556647_T_C T C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.102;CADD_Rawscore=-0.606935;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+7127A>G|||||||rs4820765||-1||||||||||||Ensembl||T|T||||chr22:g.27556647T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||2/3|ENST00000761706.1:n.232-3014A>G|||||||rs4820765||-1||||||||||||Ensembl||T|T||||chr22:g.27556647T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+4709A>G|||||||rs4820765||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27556647T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=93824;gnomADv4_1_AC_joint_XX=48067;gnomADv4_1_AC_joint_XY=45757;gnomADv4_1_AF_grpmax_joint=0.85923;gnomADv4_1_AF_joint=0.617369;gnomADv4_1_AF_joint_XX=0.61848;gnomADv4_1_AF_joint_XY=0.616206;gnomADv4_1_AN_grpmax_joint=41486;gnomADv4_1_AN_joint=151974;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31102;gnomADv4_1_nhomalt_joint_XX=15948;gnomADv4_1_nhomalt_joint_XY=15154;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27558090 chr22_27558090_T_TTGTGTG;chr22_27558090_T_TTGTGTGTG T TTGTGTG 36 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=36;CADDIndel_PHREDscore=0.207;CADDIndel_Rawscore=-0.41843;CSQ=TGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+5678_254+5683dup|||||||rs368178971||-1||||||||||||Ensembl|||||||chr22:g.27558117_27558122dup|||||||||||||,TGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||2/3|ENST00000761706.1:n.232-4463_232-4458dup|||||||rs368178971||-1||||||||||||Ensembl|||||||chr22:g.27558117_27558122dup|||||||||||||,TGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+3260_135+3265dup|||||||rs368178971||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27558117_27558122dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGTGTG,TGTGTG,TGTGTG;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=15104;gnomADv4_1_AC_joint_XX=7983;gnomADv4_1_AC_joint_XY=7121;gnomADv4_1_AF_grpmax_joint=0.254098;gnomADv4_1_AF_joint=0.131316;gnomADv4_1_AF_joint_XX=0.131045;gnomADv4_1_AF_joint_XY=0.131622;gnomADv4_1_AN_grpmax_joint=244;gnomADv4_1_AN_joint=115020;gnomADv4_1_AN_joint_XX=60918;gnomADv4_1_AN_joint_XY=54102;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1056;gnomADv4_1_nhomalt_joint_XX=548;gnomADv4_1_nhomalt_joint_XY=508;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27558090 chr22_27558090_T_TTGTGTG;chr22_27558090_T_TTGTGTGTG T TTGTGTGTG 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=36;CADDIndel_PHREDscore=0.2;CADDIndel_Rawscore=-0.426779;CSQ=TGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+5676_254+5683dup|||||||rs368178971||-1||||||||||||Ensembl|||||||chr22:g.27558115_27558122dup|||||||||||||,TGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||2/3|ENST00000761706.1:n.232-4465_232-4458dup|||||||rs368178971||-1||||||||||||Ensembl|||||||chr22:g.27558115_27558122dup|||||||||||||,TGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+3258_135+3265dup|||||||rs368178971||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27558115_27558122dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGTGTGTG,TGTGTGTG,TGTGTGTG;VEP_Feature=ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=23452;gnomADv4_1_AC_joint_XX=12659;gnomADv4_1_AC_joint_XY=10793;gnomADv4_1_AF_grpmax_joint=0.336957;gnomADv4_1_AF_joint=0.204307;gnomADv4_1_AF_joint_XX=0.208077;gnomADv4_1_AF_joint_XY=0.200056;gnomADv4_1_AN_grpmax_joint=3956;gnomADv4_1_AN_joint=114788;gnomADv4_1_AN_joint_XX=60838;gnomADv4_1_AN_joint_XY=53950;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2714;gnomADv4_1_nhomalt_joint_XX=1475;gnomADv4_1_nhomalt_joint_XY=1239;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27558983 chr22_27558983_T_A T A 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=23;CADD_PHREDscore=1.014;CADD_Rawscore=-0.014314;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs374770991|4856|-1||||4||||||||Ensembl||T|T||||chr22:g.27558983T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+4791A>T|||||||rs374770991||-1||||||||||||Ensembl||T|T||||chr22:g.27558983T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||2/3|ENST00000761706.1:n.231+4791A>T|||||||rs374770991||-1||||||||||||Ensembl||T|T||||chr22:g.27558983T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+2373A>T|||||||rs374770991||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27558983T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=8072;gnomADv4_1_AC_joint_XX=4267;gnomADv4_1_AC_joint_XY=3805;gnomADv4_1_AF_grpmax_joint=0.126582;gnomADv4_1_AF_joint=0.0769509;gnomADv4_1_AF_joint_XX=0.0777713;gnomADv4_1_AF_joint_XY=0.0760513;gnomADv4_1_AN_grpmax_joint=158;gnomADv4_1_AN_joint=104898;gnomADv4_1_AN_joint_XX=54866;gnomADv4_1_AN_joint_XY=50032;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=48;gnomADv4_1_nhomalt_joint_XX=20;gnomADv4_1_nhomalt_joint_XY=28;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27559449 chr22_27559449_G_A G A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.157;CADD_Rawscore=-0.491315;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs73160562|4390|-1||||4||||||||Ensembl||G|G||||chr22:g.27559449G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+4325C>T|||||||rs73160562||-1||||||||||||Ensembl||G|G||||chr22:g.27559449G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||2/3|ENST00000761706.1:n.231+4325C>T|||||||rs73160562||-1||||||||||||Ensembl||G|G||||chr22:g.27559449G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+1907C>T|||||||rs73160562||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27559449G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=13426;gnomADv4_1_AC_joint_XX=6637;gnomADv4_1_AC_joint_XY=6789;gnomADv4_1_AF_grpmax_joint=0.225077;gnomADv4_1_AF_joint=0.0881689;gnomADv4_1_AF_joint_XX=0.0852734;gnomADv4_1_AF_joint_XY=0.0911961;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152276;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=717;gnomADv4_1_nhomalt_joint_XX=321;gnomADv4_1_nhomalt_joint_XY=396;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27560587 chr22_27560587_T_C T C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=2.167;CADD_Rawscore=0.185218;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs143124411|3252|-1||||4||||||||Ensembl||T|T||||chr22:g.27560587T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+3187A>G|||||||rs143124411||-1||||||||||||Ensembl||T|T||||chr22:g.27560587T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||2/3|ENST00000761706.1:n.231+3187A>G|||||||rs143124411||-1||||||||||||Ensembl||T|T||||chr22:g.27560587T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+769A>G|||||||rs143124411||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27560587T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=84;gnomADv4_1_AC_joint_XX=36;gnomADv4_1_AC_joint_XY=48;gnomADv4_1_AF_grpmax_joint=0.0104489;gnomADv4_1_AF_joint=0.0005515;gnomADv4_1_AF_joint_XX=0.000462547;gnomADv4_1_AF_joint_XY=0.000644451;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152312;gnomADv4_1_AN_joint_XX=77830;gnomADv4_1_AN_joint_XY=74482;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27561112 chr22_27561112_C_T C T 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.869;CADD_Rawscore=-0.053846;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs117471767|2727|-1||||4||||||||Ensembl||C|C||||chr22:g.27561112C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+2662G>A|||||||rs117471767||-1||||||||||||Ensembl||C|C||||chr22:g.27561112C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||2/3|ENST00000761706.1:n.231+2662G>A|||||||rs117471767||-1||||||||||||Ensembl||C|C||||chr22:g.27561112C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||1/5|XR_938124.2:n.135+244G>A|||||||rs117471767||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27561112C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=865;gnomADv4_1_AC_joint_XX=434;gnomADv4_1_AC_joint_XY=431;gnomADv4_1_AF_grpmax_joint=0.00961287;gnomADv4_1_AF_joint=0.00568219;gnomADv4_1_AF_joint_XX=0.00557841;gnomADv4_1_AF_joint_XY=0.00579068;gnomADv4_1_AN_grpmax_joint=15292;gnomADv4_1_AN_joint=152230;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=2;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27562165 chr22_27562165_G_A G A 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.119;CADD_Rawscore=-0.565675;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs9625262|1674|-1||||4||||||||Ensembl||G|G||||chr22:g.27562165G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+1609C>T|||||||rs9625262||-1||||||||||||Ensembl||G|G||||chr22:g.27562165G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||2/3|ENST00000761706.1:n.231+1609C>T|||||||rs9625262||-1||||||||||||Ensembl||G|G||||chr22:g.27562165G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs9625262|675|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27562165G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=107859;gnomADv4_1_AC_joint_XX=55054;gnomADv4_1_AC_joint_XY=52805;gnomADv4_1_AF_grpmax_joint=0.806122;gnomADv4_1_AF_joint=0.710374;gnomADv4_1_AF_joint_XX=0.708947;gnomADv4_1_AF_joint_XY=0.711869;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151834;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74178;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=38652;gnomADv4_1_nhomalt_joint_XX=19642;gnomADv4_1_nhomalt_joint_XY=19010;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27562424 chr22_27562424_C_CAA C CAA 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=1.207;CADDIndel_Rawscore=0.031207;CSQ=AA|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs34740765|1414|-1||||4||||||||Ensembl|||||||chr22:g.27562435_27562436dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+1348_254+1349dup|||||||rs34740765||-1||||||||||||Ensembl|||||||chr22:g.27562435_27562436dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||2/3|ENST00000761706.1:n.231+1348_231+1349dup|||||||rs34740765||-1||||||||||||Ensembl|||||||chr22:g.27562435_27562436dup|||||||||||||,AA|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs34740765|934|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27562435_27562436dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=49647;gnomADv4_1_AC_joint_XX=25886;gnomADv4_1_AC_joint_XY=23761;gnomADv4_1_AF_grpmax_joint=0.568345;gnomADv4_1_AF_joint=0.35111;gnomADv4_1_AF_joint_XX=0.354205;gnomADv4_1_AF_joint_XY=0.3478;gnomADv4_1_AN_grpmax_joint=278;gnomADv4_1_AN_joint=141400;gnomADv4_1_AN_joint_XX=73082;gnomADv4_1_AN_joint_XY=68318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9939;gnomADv4_1_nhomalt_joint_XX=5255;gnomADv4_1_nhomalt_joint_XY=4684;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27563133 chr22_27563133_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.699;CADD_Rawscore=0.244701;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs73160564|706|-1||||4||||||||Ensembl||G|G||||chr22:g.27563133G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||2/4|ENST00000761705.1:n.254+641C>T|||||||rs73160564||-1||||||||||||Ensembl||G|G||||chr22:g.27563133G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||2/3|ENST00000761706.1:n.231+641C>T|||||||rs73160564||-1||||||||||||Ensembl||G|G||||chr22:g.27563133G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs73160564|1643|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27563133G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=12973;gnomADv4_1_AC_joint_XX=6478;gnomADv4_1_AC_joint_XY=6495;gnomADv4_1_AF_grpmax_joint=0.224719;gnomADv4_1_AF_joint=0.0852377;gnomADv4_1_AF_joint_XX=0.0832669;gnomADv4_1_AF_joint_XY=0.0872984;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=669;gnomADv4_1_nhomalt_joint_XX=305;gnomADv4_1_nhomalt_joint_XY=364;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27563791 chr22_27563791_G_A G A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.141;CADD_Rawscore=-0.51875;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs6005513|48|-1||||4||||||||Ensembl||G|G||||chr22:g.27563791G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA|2/5||ENST00000761705.1:n.237C>T||237|||||rs6005513||-1||||||||||||Ensembl||G|G||||chr22:g.27563791G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA|2/4||ENST00000761706.1:n.214C>T||214|||||rs6005513||-1||||||||||||Ensembl||G|G||||chr22:g.27563791G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs6005513|2301|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27563791G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=19266;gnomADv4_1_AC_joint_XX=9728;gnomADv4_1_AC_joint_XY=9538;gnomADv4_1_AF_grpmax_joint=0.319525;gnomADv4_1_AF_joint=0.12653;gnomADv4_1_AF_joint_XX=0.125016;gnomADv4_1_AF_joint_XY=0.128113;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=152264;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1377;gnomADv4_1_nhomalt_joint_XX=680;gnomADv4_1_nhomalt_joint_XY=697;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27563793 chr22_27563793_G_A G A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=3.53;CADD_Rawscore=0.323432;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs73160565|46|-1||||4||||||||Ensembl||G|G||||chr22:g.27563793G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA|2/5||ENST00000761705.1:n.235C>T||235|||||rs73160565||-1||||||||||||Ensembl||G|G||||chr22:g.27563793G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA|2/4||ENST00000761706.1:n.212C>T||212|||||rs73160565||-1||||||||||||Ensembl||G|G||||chr22:g.27563793G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs73160565|2303|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27563793G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=13158;gnomADv4_1_AC_joint_XX=6535;gnomADv4_1_AC_joint_XY=6623;gnomADv4_1_AF_grpmax_joint=0.223669;gnomADv4_1_AF_joint=0.0864146;gnomADv4_1_AF_joint_XX=0.0839737;gnomADv4_1_AF_joint_XY=0.0889662;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=152266;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=681;gnomADv4_1_nhomalt_joint_XX=307;gnomADv4_1_nhomalt_joint_XY=374;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27563880 chr22_27563880_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.494;CADD_Rawscore=-0.196423;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA|3/3||ENST00000415655.1:n.536G>A||536|||||rs73160566||-1||||4||||||||Ensembl||C|C||||chr22:g.27563880C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA|2/5||ENST00000761705.1:n.148G>A||148|||||rs73160566||-1||||||||||||Ensembl||C|C||||chr22:g.27563880C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA|2/4||ENST00000761706.1:n.125G>A||125|||||rs73160566||-1||||||||||||Ensembl||C|C||||chr22:g.27563880C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs73160566|2390|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27563880C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=15184;gnomADv4_1_AC_joint_XX=7500;gnomADv4_1_AC_joint_XY=7684;gnomADv4_1_AF_grpmax_joint=0.320722;gnomADv4_1_AF_joint=0.0997359;gnomADv4_1_AF_joint_XX=0.096406;gnomADv4_1_AF_joint_XY=0.103216;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152242;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=982;gnomADv4_1_nhomalt_joint_XX=453;gnomADv4_1_nhomalt_joint_XY=529;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27564348 chr22_27564348_G_A G A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.926;CADD_Rawscore=0.153974;CSQ=A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA|2/3||ENST00000415655.1:n.152C>T||152|||||rs56133658||-1||||4||||||||Ensembl||G|G||||chr22:g.27564348G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-426C>T|||||||rs56133658||-1||||||||||||Ensembl||G|G||||chr22:g.27564348G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-426C>T|||||||rs56133658||-1||||||||||||Ensembl||G|G||||chr22:g.27564348G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs56133658|2858|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27564348G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=28396;gnomADv4_1_AC_joint_XX=14656;gnomADv4_1_AC_joint_XY=13740;gnomADv4_1_AF_grpmax_joint=0.401361;gnomADv4_1_AF_joint=0.186448;gnomADv4_1_AF_joint_XX=0.188327;gnomADv4_1_AF_joint_XY=0.184484;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152300;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3174;gnomADv4_1_nhomalt_joint_XX=1639;gnomADv4_1_nhomalt_joint_XY=1535;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27564619 chr22_27564619_C_T C T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.201;CADD_Rawscore=0.029916;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-186G>A|||||||rs6005515||-1||||4||||||||Ensembl||C|C||||chr22:g.27564619C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-697G>A|||||||rs6005515||-1||||||||||||Ensembl||C|C||||chr22:g.27564619C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-697G>A|||||||rs6005515||-1||||||||||||Ensembl||C|C||||chr22:g.27564619C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs6005515|3129|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27564619C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=25717;gnomADv4_1_AC_joint_XX=13072;gnomADv4_1_AC_joint_XY=12645;gnomADv4_1_AF_grpmax_joint=0.321692;gnomADv4_1_AF_joint=0.169131;gnomADv4_1_AF_joint_XX=0.168181;gnomADv4_1_AF_joint_XY=0.170124;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152054;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2507;gnomADv4_1_nhomalt_joint_XX=1250;gnomADv4_1_nhomalt_joint_XY=1257;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27564712 chr22_27564712_G_A G A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.954;CADD_Rawscore=-0.029961;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-279C>T|||||||rs881459||-1||||4||||||||Ensembl||G|G||||chr22:g.27564712G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-790C>T|||||||rs881459||-1||||||||||||Ensembl||G|G||||chr22:g.27564712G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-790C>T|||||||rs881459||-1||||||||||||Ensembl||G|G||||chr22:g.27564712G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs881459|3222|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27564712G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=65549;gnomADv4_1_AC_joint_XX=33771;gnomADv4_1_AC_joint_XY=31778;gnomADv4_1_AF_grpmax_joint=0.496599;gnomADv4_1_AF_joint=0.431204;gnomADv4_1_AF_joint_XX=0.434566;gnomADv4_1_AF_joint_XY=0.427687;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=14156;gnomADv4_1_nhomalt_joint_XX=7354;gnomADv4_1_nhomalt_joint_XY=6802;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27564829 chr22_27564829_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=5.58;CADD_Rawscore=0.51134;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-396G>A|||||||rs881460||-1||||4||||||||Ensembl||C|C||||chr22:g.27564829C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-907G>A|||||||rs881460||-1||||||||||||Ensembl||C|C||||chr22:g.27564829C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-907G>A|||||||rs881460||-1||||||||||||Ensembl||C|C||||chr22:g.27564829C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs881460|3339|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27564829C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=45156;gnomADv4_1_AC_joint_XX=22982;gnomADv4_1_AC_joint_XY=22174;gnomADv4_1_AF_grpmax_joint=0.330482;gnomADv4_1_AF_joint=0.297016;gnomADv4_1_AF_joint_XX=0.295664;gnomADv4_1_AF_joint_XY=0.298431;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6822;gnomADv4_1_nhomalt_joint_XX=3443;gnomADv4_1_nhomalt_joint_XY=3379;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27565238 chr22_27565238_G_C G C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.89;CADD_Rawscore=0.26379;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-805C>G|||||||rs5762251||-1||||4||||||||Ensembl||G|G||||chr22:g.27565238G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-1316C>G|||||||rs5762251||-1||||||||||||Ensembl||G|G||||chr22:g.27565238G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-1316C>G|||||||rs5762251||-1||||||||||||Ensembl||G|G||||chr22:g.27565238G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs5762251|3748|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27565238G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=45120;gnomADv4_1_AC_joint_XX=23316;gnomADv4_1_AC_joint_XY=21804;gnomADv4_1_AF_grpmax_joint=0.462585;gnomADv4_1_AF_joint=0.297151;gnomADv4_1_AF_joint_XX=0.30024;gnomADv4_1_AF_joint_XY=0.293918;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151842;gnomADv4_1_AN_joint_XX=77658;gnomADv4_1_AN_joint_XY=74184;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7461;gnomADv4_1_nhomalt_joint_XX=3922;gnomADv4_1_nhomalt_joint_XY=3539;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27565389 chr22_27565389_C_T C T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.091;CADD_Rawscore=0.1758;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-956G>A|||||||rs11703218||-1||||4||||||||Ensembl||C|C||||chr22:g.27565389C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-1467G>A|||||||rs11703218||-1||||||||||||Ensembl||C|C||||chr22:g.27565389C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-1467G>A|||||||rs11703218||-1||||||||||||Ensembl||C|C||||chr22:g.27565389C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs11703218|3899|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27565389C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=26283;gnomADv4_1_AC_joint_XX=13552;gnomADv4_1_AC_joint_XY=12731;gnomADv4_1_AF_grpmax_joint=0.417857;gnomADv4_1_AF_joint=0.187535;gnomADv4_1_AF_joint_XX=0.186389;gnomADv4_1_AF_joint_XY=0.18877;gnomADv4_1_AN_grpmax_joint=280;gnomADv4_1_AN_joint=140150;gnomADv4_1_AN_joint_XX=72708;gnomADv4_1_AN_joint_XY=67442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2737;gnomADv4_1_nhomalt_joint_XX=1417;gnomADv4_1_nhomalt_joint_XY=1320;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27565483 chr22_27565483_A_AATGGATGGATGGATGGATGG;chr22_27565483_A_AATGGATGGATGGATGGATGGATGG A AATGGATGGATGGATGGATGG 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=27;CADDIndel_PHREDscore=0.112;CADDIndel_Rawscore=-0.581551;CSQ=ATGGATGGATGGATGGATGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-1070_67-1051dup|||||||rs770052433||-1||||4||||||||Ensembl|||||||chr22:g.27565486_27565505dup|||||||||||||,ATGGATGGATGGATGGATGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-1581_106-1562dup|||||||rs770052433||-1||||||||||||Ensembl|||||||chr22:g.27565486_27565505dup|||||||||||||,ATGGATGGATGGATGGATGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-1581_83-1562dup|||||||rs770052433||-1||||||||||||Ensembl|||||||chr22:g.27565486_27565505dup|||||||||||||,ATGGATGGATGGATGGATGG|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs770052433|3993|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27565486_27565505dup|||||||||||||;TYPE=INDEL;VEP_Allele=ATGGATGGATGGATGGATGG,ATGGATGGATGGATGGATGG,ATGGATGGATGGATGGATGG,ATGGATGGATGGATGGATGG;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=15808;gnomADv4_1_AC_joint_XX=8667;gnomADv4_1_AC_joint_XY=7141;gnomADv4_1_AF_grpmax_joint=0.274194;gnomADv4_1_AF_joint=0.139825;gnomADv4_1_AF_joint_XX=0.14668;gnomADv4_1_AF_joint_XY=0.132319;gnomADv4_1_AN_grpmax_joint=124;gnomADv4_1_AN_joint=113056;gnomADv4_1_AN_joint_XX=59088;gnomADv4_1_AN_joint_XY=53968;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1524;gnomADv4_1_nhomalt_joint_XX=858;gnomADv4_1_nhomalt_joint_XY=666;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27565483 chr22_27565483_A_AATGGATGGATGGATGGATGG;chr22_27565483_A_AATGGATGGATGGATGGATGGATGG A AATGGATGGATGGATGGATGGATGG 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=27;CADDIndel_PHREDscore=0.104;CADDIndel_Rawscore=-0.60137;CSQ=ATGGATGGATGGATGGATGGATGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-1051_67-1050insCCATCCATCCATCCATCCATCCAT|||||||rs770052433||-1||||4||||||||Ensembl|||||||chr22:g.27565505_27565506insGGATGGATGGATGGATGGATGGAT|||||||||||||,ATGGATGGATGGATGGATGGATGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-1562_106-1561insCCATCCATCCATCCATCCATCCAT|||||||rs770052433||-1||||||||||||Ensembl|||||||chr22:g.27565505_27565506insGGATGGATGGATGGATGGATGGAT|||||||||||||,ATGGATGGATGGATGGATGGATGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-1562_83-1561insCCATCCATCCATCCATCCATCCAT|||||||rs770052433||-1||||||||||||Ensembl|||||||chr22:g.27565505_27565506insGGATGGATGGATGGATGGATGGAT|||||||||||||,ATGGATGGATGGATGGATGGATGG|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs770052433|3993|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27565505_27565506insGGATGGATGGATGGATGGATGGAT|||||||||||||;TYPE=INDEL;VEP_Allele=ATGGATGGATGGATGGATGGATGG,ATGGATGGATGGATGGATGGATGG,ATGGATGGATGGATGGATGGATGG,ATGGATGGATGGATGGATGGATGG;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=11813;gnomADv4_1_AC_joint_XX=6549;gnomADv4_1_AC_joint_XY=5264;gnomADv4_1_AF_grpmax_joint=0.151844;gnomADv4_1_AF_joint=0.104405;gnomADv4_1_AF_joint_XX=0.110674;gnomADv4_1_AF_joint_XY=0.0975321;gnomADv4_1_AN_grpmax_joint=53700;gnomADv4_1_AN_joint=113146;gnomADv4_1_AN_joint_XX=59174;gnomADv4_1_AN_joint_XY=53972;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=956;gnomADv4_1_nhomalt_joint_XX=553;gnomADv4_1_nhomalt_joint_XY=403;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27565917 chr22_27565917_C_T C T 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.026;CADD_Rawscore=-0.011208;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-1484G>A|||||||rs73160574||-1||||4||||||||Ensembl||C|C||||chr22:g.27565917C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-1995G>A|||||||rs73160574||-1||||||||||||Ensembl||C|C||||chr22:g.27565917C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-1995G>A|||||||rs73160574||-1||||||||||||Ensembl||C|C||||chr22:g.27565917C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs73160574|4427|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27565917C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=16821;gnomADv4_1_AC_joint_XX=8381;gnomADv4_1_AC_joint_XY=8440;gnomADv4_1_AF_grpmax_joint=0.321539;gnomADv4_1_AF_joint=0.110513;gnomADv4_1_AF_joint_XX=0.107739;gnomADv4_1_AF_joint_XY=0.113413;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152208;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1174;gnomADv4_1_nhomalt_joint_XX=559;gnomADv4_1_nhomalt_joint_XY=615;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27566079 chr22_27566079_A_T A T 25 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=25;CADD_PHREDscore=2.653;CADD_Rawscore=0.239956;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-1646T>A|||||||rs78976179||-1||||4||||||||Ensembl||A|A||||chr22:g.27566079A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-2157T>A|||||||rs78976179||-1||||||||||||Ensembl||A|A||||chr22:g.27566079A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-2157T>A|||||||rs78976179||-1||||||||||||Ensembl||A|A||||chr22:g.27566079A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs78976179|4589|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27566079A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=7293;gnomADv4_1_AC_joint_XX=3829;gnomADv4_1_AC_joint_XY=3464;gnomADv4_1_AF_grpmax_joint=0.073933;gnomADv4_1_AF_joint=0.047926;gnomADv4_1_AF_joint_XX=0.0492476;gnomADv4_1_AF_joint_XY=0.0465454;gnomADv4_1_AN_grpmax_joint=67994;gnomADv4_1_AN_joint=152172;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=246;gnomADv4_1_nhomalt_joint_XX=129;gnomADv4_1_nhomalt_joint_XY=117;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27566231 chr22_27566231_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.672;CADD_Rawscore=-0.11915;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-1798T>C|||||||rs5762252||-1||||4||||||||Ensembl||A|A||||chr22:g.27566231A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-2309T>C|||||||rs5762252||-1||||||||||||Ensembl||A|A||||chr22:g.27566231A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-2309T>C|||||||rs5762252||-1||||||||||||Ensembl||A|A||||chr22:g.27566231A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs5762252|4741|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27566231A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=150352;gnomADv4_1_AC_joint_XX=76857;gnomADv4_1_AC_joint_XY=73495;gnomADv4_1_AF_grpmax_joint=0.999807;gnomADv4_1_AF_joint=0.987624;gnomADv4_1_AF_joint_XX=0.987854;gnomADv4_1_AF_joint_XY=0.987385;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152236;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=74250;gnomADv4_1_nhomalt_joint_XX=37966;gnomADv4_1_nhomalt_joint_XY=36284;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27566270 chr22_27566270_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.558;CADD_Rawscore=-0.165752;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-1837C>T|||||||rs7290269||-1||||4||||||||Ensembl||G|G||||chr22:g.27566270G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-2348C>T|||||||rs7290269||-1||||||||||||Ensembl||G|G||||chr22:g.27566270G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-2348C>T|||||||rs7290269||-1||||||||||||Ensembl||G|G||||chr22:g.27566270G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372981|105372981|Transcript|XR_938124.2|lncRNA||||||||||rs7290269|4780|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27566270G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,XR_938124.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,105372981;VEP_SYMBOL=.,.,.,LOC105372981;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=16795;gnomADv4_1_AC_joint_XX=8368;gnomADv4_1_AC_joint_XY=8427;gnomADv4_1_AF_grpmax_joint=0.321442;gnomADv4_1_AF_joint=0.110463;gnomADv4_1_AF_joint_XX=0.10768;gnomADv4_1_AF_joint_XY=0.113373;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1168;gnomADv4_1_nhomalt_joint_XX=556;gnomADv4_1_nhomalt_joint_XY=612;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27566556 chr22_27566556_A_G A G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=4.409;CADD_Rawscore=0.401678;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-2123T>C|||||||rs723184||-1||||4||||||||Ensembl||A|A||||chr22:g.27566556A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-2634T>C|||||||rs723184||-1||||||||||||Ensembl||A|A||||chr22:g.27566556A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-2634T>C|||||||rs723184||-1||||||||||||Ensembl||A|A||||chr22:g.27566556A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=16922;gnomADv4_1_AC_joint_XX=8447;gnomADv4_1_AC_joint_XY=8475;gnomADv4_1_AF_grpmax_joint=0.319752;gnomADv4_1_AF_joint=0.11121;gnomADv4_1_AF_joint_XX=0.108573;gnomADv4_1_AF_joint_XY=0.11397;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1174;gnomADv4_1_nhomalt_joint_XX=560;gnomADv4_1_nhomalt_joint_XY=614;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27567455 chr22_27567455_G_A G A 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=7.933;CADD_Rawscore=0.761343;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-3022C>T|||||||rs1884291||-1||||4||||||||Ensembl||G|G||||chr22:g.27567455G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-3533C>T|||||||rs1884291||-1||||||||||||Ensembl||G|G||||chr22:g.27567455G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-3533C>T|||||||rs1884291||-1||||||||||||Ensembl||G|G||||chr22:g.27567455G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=16972;gnomADv4_1_AC_joint_XX=8441;gnomADv4_1_AC_joint_XY=8531;gnomADv4_1_AF_grpmax_joint=0.322937;gnomADv4_1_AF_joint=0.111608;gnomADv4_1_AF_joint_XX=0.108591;gnomADv4_1_AF_joint_XY=0.114763;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1197;gnomADv4_1_nhomalt_joint_XX=568;gnomADv4_1_nhomalt_joint_XY=629;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27567481 chr22_27567481_C_T C T 55 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=7.015;CADD_Rawscore=0.659687;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-3048G>A|||||||rs1884290||-1||||4||||||||Ensembl||C|C||||chr22:g.27567481C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-3559G>A|||||||rs1884290||-1||||||||||||Ensembl||C|C||||chr22:g.27567481C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-3559G>A|||||||rs1884290||-1||||||||||||Ensembl||C|C||||chr22:g.27567481C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=16926;gnomADv4_1_AC_joint_XX=8412;gnomADv4_1_AC_joint_XY=8514;gnomADv4_1_AF_grpmax_joint=0.322481;gnomADv4_1_AF_joint=0.111326;gnomADv4_1_AF_joint_XX=0.108235;gnomADv4_1_AF_joint_XY=0.114559;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1188;gnomADv4_1_nhomalt_joint_XX=563;gnomADv4_1_nhomalt_joint_XY=625;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27567547 chr22_27567547_A_T A T 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.883;CADD_Rawscore=-0.049965;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-3114T>A|||||||rs5752590||-1||||4||||||||Ensembl||A|A||||chr22:g.27567547A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-3625T>A|||||||rs5752590||-1||||||||||||Ensembl||A|A||||chr22:g.27567547A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-3625T>A|||||||rs5752590||-1||||||||||||Ensembl||A|A||||chr22:g.27567547A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=13192;gnomADv4_1_AC_joint_XX=6558;gnomADv4_1_AC_joint_XY=6634;gnomADv4_1_AF_grpmax_joint=0.22625;gnomADv4_1_AF_joint=0.086713;gnomADv4_1_AF_joint_XX=0.0843212;gnomADv4_1_AF_joint_XY=0.0892146;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=683;gnomADv4_1_nhomalt_joint_XX=313;gnomADv4_1_nhomalt_joint_XY=370;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27568308 chr22_27568308_A_AGAAGGAAGGAAGGAAG A AGAAGGAAGGAAGGAAG 28 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=28;CADDIndel_PHREDscore=0.308;CADDIndel_Rawscore=-0.315736;CSQ=GAAGGAAGGAAGGAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-3891_67-3876dup|||||||rs34895534||-1||||4||||||||Ensembl|||||||chr22:g.27568337_27568352dup|||||||||||||,GAAGGAAGGAAGGAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-4402_106-4387dup|||||||rs34895534||-1||||||||||||Ensembl|||||||chr22:g.27568337_27568352dup|||||||||||||,GAAGGAAGGAAGGAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-4402_83-4387dup|||||||rs34895534||-1||||||||||||Ensembl|||||||chr22:g.27568337_27568352dup|||||||||||||;TYPE=INDEL;VEP_Allele=GAAGGAAGGAAGGAAG,GAAGGAAGGAAGGAAG,GAAGGAAGGAAGGAAG;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=10355;gnomADv4_1_AC_joint_XX=5614;gnomADv4_1_AC_joint_XY=4741;gnomADv4_1_AF_grpmax_joint=0.196581;gnomADv4_1_AF_joint=0.0907156;gnomADv4_1_AF_joint_XX=0.0934856;gnomADv4_1_AF_joint_XY=0.0876405;gnomADv4_1_AN_grpmax_joint=234;gnomADv4_1_AN_joint=114148;gnomADv4_1_AN_joint_XX=60052;gnomADv4_1_AN_joint_XY=54096;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=696;gnomADv4_1_nhomalt_joint_XX=377;gnomADv4_1_nhomalt_joint_XY=319;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27568351 chr22_27568351_A_AGGAAGGAAGGAAGGAAG A AGGAAGGAAGGAAGGAAG 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=18;CADDIndel_PHREDscore=1.302;CADDIndel_Rawscore=0.050946;CSQ=GGAAGGAAGGAAGGAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-3919_67-3918insCTTCCTTCCTTCCTTCC|||||||rs11424979||-1||||4||||||||Ensembl|||||||chr22:g.27568352_27568353insGAAGGAAGGAAGGAAGG|||||||||||||,GGAAGGAAGGAAGGAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-4430_106-4429insCTTCCTTCCTTCCTTCC|||||||rs11424979||-1||||||||||||Ensembl|||||||chr22:g.27568352_27568353insGAAGGAAGGAAGGAAGG|||||||||||||,GGAAGGAAGGAAGGAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-4430_83-4429insCTTCCTTCCTTCCTTCC|||||||rs11424979||-1||||||||||||Ensembl|||||||chr22:g.27568352_27568353insGAAGGAAGGAAGGAAGG|||||||||||||;TYPE=INDEL;VEP_Allele=GGAAGGAAGGAAGGAAG,GGAAGGAAGGAAGGAAG,GGAAGGAAGGAAGGAAG;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=8695;gnomADv4_1_AC_joint_XX=4615;gnomADv4_1_AC_joint_XY=4080;gnomADv4_1_AF_grpmax_joint=0.0869093;gnomADv4_1_AF_joint=0.0743226;gnomADv4_1_AF_joint_XX=0.0767249;gnomADv4_1_AF_joint_XY=0.0717804;gnomADv4_1_AN_grpmax_joint=3682;gnomADv4_1_AN_joint=116990;gnomADv4_1_AN_joint_XX=60150;gnomADv4_1_AN_joint_XY=56840;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=594;gnomADv4_1_nhomalt_joint_XX=325;gnomADv4_1_nhomalt_joint_XY=269;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27568420 chr22_27568420_G_A G A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.043;CADD_Rawscore=-0.842342;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-3987C>T|||||||rs73160578||-1||||4||||||||Ensembl||G|G||||chr22:g.27568420G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-4498C>T|||||||rs73160578||-1||||||||||||Ensembl||G|G||||chr22:g.27568420G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-4498C>T|||||||rs73160578||-1||||||||||||Ensembl||G|G||||chr22:g.27568420G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=27475;gnomADv4_1_AC_joint_XX=14170;gnomADv4_1_AC_joint_XY=13305;gnomADv4_1_AF_grpmax_joint=0.411565;gnomADv4_1_AF_joint=0.180676;gnomADv4_1_AF_joint_XX=0.18227;gnomADv4_1_AF_joint_XY=0.179009;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2959;gnomADv4_1_nhomalt_joint_XX=1538;gnomADv4_1_nhomalt_joint_XY=1421;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27568465 chr22_27568465_A_G A G 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.473;CADD_Rawscore=0.083425;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.67-4032T>C|||||||rs4822912||-1||||4||||||||Ensembl||A|A||||chr22:g.27568465A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.106-4543T>C|||||||rs4822912||-1||||||||||||Ensembl||A|A||||chr22:g.27568465A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.83-4543T>C|||||||rs4822912||-1||||||||||||Ensembl||A|A||||chr22:g.27568465A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=46976;gnomADv4_1_AC_joint_XX=23932;gnomADv4_1_AC_joint_XY=23044;gnomADv4_1_AF_grpmax_joint=0.332237;gnomADv4_1_AF_joint=0.309049;gnomADv4_1_AF_joint_XX=0.307902;gnomADv4_1_AF_joint_XY=0.310248;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152002;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7343;gnomADv4_1_nhomalt_joint_XX=3719;gnomADv4_1_nhomalt_joint_XY=3624;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27569133 chr22_27569133_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=3.646;CADD_Rawscore=0.333789;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.66+4375C>T|||||||rs5762253||-1||||4||||||||Ensembl||G|G||||chr22:g.27569133G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.105+4375C>T|||||||rs5762253||-1||||||||||||Ensembl||G|G||||chr22:g.27569133G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.82+4375C>T|||||||rs5762253||-1||||||||||||Ensembl||G|G||||chr22:g.27569133G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=16285;gnomADv4_1_AC_joint_XX=8065;gnomADv4_1_AC_joint_XY=8220;gnomADv4_1_AF_grpmax_joint=0.319799;gnomADv4_1_AF_joint=0.106981;gnomADv4_1_AF_joint_XX=0.103671;gnomADv4_1_AF_joint_XY=0.110439;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152224;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1134;gnomADv4_1_nhomalt_joint_XX=544;gnomADv4_1_nhomalt_joint_XY=590;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27569409 chr22_27569409_T_C T C 51 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.768;CADD_Rawscore=0.131301;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.66+4099A>G|||||||rs5762254||-1||||4||||||||Ensembl||T|T||||chr22:g.27569409T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.105+4099A>G|||||||rs5762254||-1||||||||||||Ensembl||T|T||||chr22:g.27569409T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.82+4099A>G|||||||rs5762254||-1||||||||||||Ensembl||T|T||||chr22:g.27569409T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=111655;gnomADv4_1_AC_joint_XX=57265;gnomADv4_1_AC_joint_XY=54390;gnomADv4_1_AF_grpmax_joint=0.77551;gnomADv4_1_AF_joint=0.734109;gnomADv4_1_AF_joint_XX=0.736679;gnomADv4_1_AF_joint_XY=0.731422;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=41063;gnomADv4_1_nhomalt_joint_XX=21162;gnomADv4_1_nhomalt_joint_XY=19901;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27570296 chr22_27570296_CTTTTTT_C CTTTTTT C 20 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=20;CADDIndel_PHREDscore=0.87;CADDIndel_Rawscore=-0.053634;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.66+3206_66+3211del|||||||rs56109230||-1||||4||||||||Ensembl||TTTTTT|TTTTTT||||chr22:g.27570323_27570328del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.105+3206_105+3211del|||||||rs56109230||-1||||||||||||Ensembl||TTTTTT|TTTTTT||||chr22:g.27570323_27570328del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.82+3206_82+3211del|||||||rs56109230||-1||||||||||||Ensembl||TTTTTT|TTTTTT||||chr22:g.27570323_27570328del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=6487;gnomADv4_1_AC_joint_XX=3706;gnomADv4_1_AC_joint_XY=2781;gnomADv4_1_AF_grpmax_joint=0.193182;gnomADv4_1_AF_joint=0.1172;gnomADv4_1_AF_joint_XX=0.119172;gnomADv4_1_AF_joint_XY=0.114671;gnomADv4_1_AN_grpmax_joint=88;gnomADv4_1_AN_joint=55350;gnomADv4_1_AN_joint_XX=31098;gnomADv4_1_AN_joint_XY=24252;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=45;gnomADv4_1_nhomalt_joint_XX=22;gnomADv4_1_nhomalt_joint_XY=23;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27570694 chr22_27570694_T_C T C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.193;CADD_Rawscore=-0.435823;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.66+2814A>G|||||||rs5762255||-1||||4||||||||Ensembl||T|T||||chr22:g.27570694T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.105+2814A>G|||||||rs5762255||-1||||||||||||Ensembl||T|T||||chr22:g.27570694T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.82+2814A>G|||||||rs5762255||-1||||||||||||Ensembl||T|T||||chr22:g.27570694T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=62404;gnomADv4_1_AC_joint_XX=31736;gnomADv4_1_AC_joint_XY=30668;gnomADv4_1_AF_grpmax_joint=0.541429;gnomADv4_1_AF_joint=0.410628;gnomADv4_1_AF_joint_XX=0.408537;gnomADv4_1_AF_joint_XY=0.412815;gnomADv4_1_AN_grpmax_joint=41420;gnomADv4_1_AN_joint=151972;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=13534;gnomADv4_1_nhomalt_joint_XX=6869;gnomADv4_1_nhomalt_joint_XY=6665;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27571158 chr22_27571158_A_AAATG A AAATG 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.488;CADDIndel_Rawscore=-0.199306;CSQ=AATG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.66+2346_66+2349dup|||||||rs60768429||-1||||4||||||||Ensembl|||||||chr22:g.27571181_27571184dup|||||||||||||,AATG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.105+2346_105+2349dup|||||||rs60768429||-1||||||||||||Ensembl|||||||chr22:g.27571181_27571184dup|||||||||||||,AATG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.82+2346_82+2349dup|||||||rs60768429||-1||||||||||||Ensembl|||||||chr22:g.27571181_27571184dup|||||||||||||;TYPE=INDEL;VEP_Allele=AATG,AATG,AATG;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=41312;gnomADv4_1_AC_joint_XX=21048;gnomADv4_1_AC_joint_XY=20264;gnomADv4_1_AF_grpmax_joint=0.288231;gnomADv4_1_AF_joint=0.273213;gnomADv4_1_AF_joint_XX=0.27198;gnomADv4_1_AF_joint_XY=0.274506;gnomADv4_1_AN_grpmax_joint=67824;gnomADv4_1_AN_joint=151208;gnomADv4_1_AN_joint_XX=77388;gnomADv4_1_AN_joint_XY=73820;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5740;gnomADv4_1_nhomalt_joint_XX=2892;gnomADv4_1_nhomalt_joint_XY=2848;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27571314 chr22_27571314_C_T C T 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.249;CADD_Rawscore=-0.370199;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.66+2194G>A|||||||rs5752591||-1||||4||||||||Ensembl||C|C||||chr22:g.27571314C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.105+2194G>A|||||||rs5752591||-1||||||||||||Ensembl||C|C||||chr22:g.27571314C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.82+2194G>A|||||||rs5752591||-1||||||||||||Ensembl||C|C||||chr22:g.27571314C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=60546;gnomADv4_1_AC_joint_XX=30752;gnomADv4_1_AC_joint_XY=29794;gnomADv4_1_AF_grpmax_joint=0.533915;gnomADv4_1_AF_joint=0.398481;gnomADv4_1_AF_joint_XX=0.395819;gnomADv4_1_AF_joint_XY=0.401266;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151942;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12572;gnomADv4_1_nhomalt_joint_XX=6375;gnomADv4_1_nhomalt_joint_XY=6197;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27571494 chr22_27571494_G_A G A 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=6.202;CADD_Rawscore=0.573735;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.66+2014C>T|||||||rs5762256||-1||||4||||||||Ensembl||G|G||||chr22:g.27571494G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.105+2014C>T|||||||rs5762256||-1||||||||||||Ensembl||G|G||||chr22:g.27571494G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.82+2014C>T|||||||rs5762256||-1||||||||||||Ensembl||G|G||||chr22:g.27571494G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=40322;gnomADv4_1_AC_joint_XX=20479;gnomADv4_1_AC_joint_XY=19843;gnomADv4_1_AF_grpmax_joint=0.284182;gnomADv4_1_AF_joint=0.265161;gnomADv4_1_AF_joint_XX=0.263429;gnomADv4_1_AF_joint_XY=0.266973;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5539;gnomADv4_1_nhomalt_joint_XX=2765;gnomADv4_1_nhomalt_joint_XY=2774;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27571502 chr22_27571502_T_C T C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.1;CADD_Rawscore=-0.610805;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.66+2006A>G|||||||rs73160587||-1||||4||||||||Ensembl||T|T||||chr22:g.27571502T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.105+2006A>G|||||||rs73160587||-1||||||||||||Ensembl||T|T||||chr22:g.27571502T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.82+2006A>G|||||||rs73160587||-1||||||||||||Ensembl||T|T||||chr22:g.27571502T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=27449;gnomADv4_1_AC_joint_XX=14159;gnomADv4_1_AC_joint_XY=13290;gnomADv4_1_AF_grpmax_joint=0.407534;gnomADv4_1_AF_joint=0.180624;gnomADv4_1_AF_joint_XX=0.182198;gnomADv4_1_AF_joint_XY=0.178975;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151968;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2950;gnomADv4_1_nhomalt_joint_XX=1533;gnomADv4_1_nhomalt_joint_XY=1417;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27572098 chr22_27572098_G_C G C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.026;CADD_Rawscore=-0.977576;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.66+1410C>G|||||||rs73160588||-1||||4||||||||Ensembl||G|G||||chr22:g.27572098G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.105+1410C>G|||||||rs73160588||-1||||||||||||Ensembl||G|G||||chr22:g.27572098G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.82+1410C>G|||||||rs73160588||-1||||||||||||Ensembl||G|G||||chr22:g.27572098G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=12786;gnomADv4_1_AC_joint_XX=6324;gnomADv4_1_AC_joint_XY=6462;gnomADv4_1_AF_grpmax_joint=0.226587;gnomADv4_1_AF_joint=0.0840355;gnomADv4_1_AF_joint_XX=0.0813146;gnomADv4_1_AF_joint_XY=0.0868805;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=658;gnomADv4_1_nhomalt_joint_XX=299;gnomADv4_1_nhomalt_joint_XY=359;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27572247 chr22_27572247_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=2.152;CADD_Rawscore=0.183342;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.66+1261A>G|||||||rs5762257||-1||||4||||||||Ensembl||T|T||||chr22:g.27572247T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.105+1261A>G|||||||rs5762257||-1||||||||||||Ensembl||T|T||||chr22:g.27572247T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.82+1261A>G|||||||rs5762257||-1||||||||||||Ensembl||T|T||||chr22:g.27572247T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=12719;gnomADv4_1_AC_joint_XX=6293;gnomADv4_1_AC_joint_XY=6426;gnomADv4_1_AF_grpmax_joint=0.225969;gnomADv4_1_AF_joint=0.0835688;gnomADv4_1_AF_joint_XX=0.0808994;gnomADv4_1_AF_joint_XY=0.0863594;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=652;gnomADv4_1_nhomalt_joint_XX=297;gnomADv4_1_nhomalt_joint_XY=355;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27573463 chr22_27573463_AC_A AC A 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.75;AF_XX=.;AF_XY=0.75;AN=4;AN_XX=0;AN_XY=4;AQ=46;CADDIndel_PHREDscore=11.44;CADDIndel_Rawscore=1.10714;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||1/2|ENST00000415655.1:n.66+44del|||||||rs35207321||-1||||4||||||||Ensembl||C|C||||chr22:g.27573470del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||1/4|ENST00000761705.1:n.105+44del|||||||rs35207321||-1||||||||||||Ensembl||C|C||||chr22:g.27573470del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||1/3|ENST00000761706.1:n.82+44del|||||||rs35207321||-1||||||||||||Ensembl||C|C||||chr22:g.27573470del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DXHF|enhancer||||||||||rs35207321|||||||||||||||||||||chr22:g.27573470del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,ENSR22_9DXHF;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,.;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=72437;gnomADv4_1_AC_joint_XX=37104;gnomADv4_1_AC_joint_XY=35333;gnomADv4_1_AF_grpmax_joint=0.655629;gnomADv4_1_AF_joint=0.479741;gnomADv4_1_AF_joint_XX=0.480373;gnomADv4_1_AF_joint_XY=0.479079;gnomADv4_1_AN_grpmax_joint=302;gnomADv4_1_AN_joint=150992;gnomADv4_1_AN_joint_XX=77240;gnomADv4_1_AN_joint_XY=73752;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19080;gnomADv4_1_nhomalt_joint_XX=9835;gnomADv4_1_nhomalt_joint_XY=9245;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27573667 chr22_27573667_C_CGGG C CGGG 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=0.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=40;CADDIndel_PHREDscore=0.15;CADDIndel_Rawscore=-0.503148;CSQ=GGG|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs145380557|94|-1||||4||||||||Ensembl|||||||chr22:g.27573667_27573668insGGG|||||||||||||,GGG|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs145380557|55|-1||||||||||||Ensembl|||||||chr22:g.27573667_27573668insGGG|||||||||||||,GGG|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs145380557|78|-1||||||||||||Ensembl|||||||chr22:g.27573667_27573668insGGG|||||||||||||;TYPE=INDEL;VEP_Allele=GGG,GGG,GGG;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=42139;gnomADv4_1_AC_joint_XX=21941;gnomADv4_1_AC_joint_XY=20198;gnomADv4_1_AF_grpmax_joint=0.404782;gnomADv4_1_AF_joint=0.300907;gnomADv4_1_AF_joint_XX=0.303036;gnomADv4_1_AF_joint_XY=0.298628;gnomADv4_1_AN_grpmax_joint=62562;gnomADv4_1_AN_joint=140040;gnomADv4_1_AN_joint_XX=72404;gnomADv4_1_AN_joint_XY=67636;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8044;gnomADv4_1_nhomalt_joint_XX=4217;gnomADv4_1_nhomalt_joint_XY=3827;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27573668 chr22_27573668_A_G A G 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.415;CADD_Rawscore=-0.239632;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs73423100|95|-1||||4||||||||Ensembl||A|A||||chr22:g.27573668A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs73423100|56|-1||||||||||||Ensembl||A|A||||chr22:g.27573668A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs73423100|79|-1||||||||||||Ensembl||A|A||||chr22:g.27573668A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=64841;gnomADv4_1_AC_joint_XX=33628;gnomADv4_1_AC_joint_XY=31213;gnomADv4_1_AF_grpmax_joint=0.55741;gnomADv4_1_AF_joint=0.451313;gnomADv4_1_AF_joint_XX=0.453733;gnomADv4_1_AF_joint_XY=0.448733;gnomADv4_1_AN_grpmax_joint=64518;gnomADv4_1_AN_joint=143672;gnomADv4_1_AN_joint_XX=74114;gnomADv4_1_AN_joint_XY=69558;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16348;gnomADv4_1_nhomalt_joint_XX=8565;gnomADv4_1_nhomalt_joint_XY=7783;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27573720 chr22_27573720_TGGTCTGGG_T TGGTCTGGG T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=15.22;CADDIndel_Rawscore=1.68561;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs61467145|148|-1||||4||||||||Ensembl||GGTCTGGG|GGTCTGGG||||chr22:g.27573725_27573732del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs61467145|109|-1||||||||||||Ensembl||GGTCTGGG|GGTCTGGG||||chr22:g.27573725_27573732del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs61467145|132|-1||||||||||||Ensembl||GGTCTGGG|GGTCTGGG||||chr22:g.27573725_27573732del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=26393;gnomADv4_1_AC_joint_XX=13732;gnomADv4_1_AC_joint_XY=12661;gnomADv4_1_AF_grpmax_joint=0.356914;gnomADv4_1_AF_joint=0.178989;gnomADv4_1_AF_joint_XX=0.181175;gnomADv4_1_AF_joint_XY=0.176677;gnomADv4_1_AN_grpmax_joint=40556;gnomADv4_1_AN_joint=147456;gnomADv4_1_AN_joint_XX=75794;gnomADv4_1_AN_joint_XY=71662;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3278;gnomADv4_1_nhomalt_joint_XX=1690;gnomADv4_1_nhomalt_joint_XY=1588;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27573964 chr22_27573964_T_A T A 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.065;CADD_Rawscore=-0.727418;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs4822914|391|-1||||4||||||||Ensembl||T|T||||chr22:g.27573964T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs4822914|352|-1||||||||||||Ensembl||T|T||||chr22:g.27573964T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs4822914|375|-1||||||||||||Ensembl||T|T||||chr22:g.27573964T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=126283;gnomADv4_1_AC_joint_XX=64739;gnomADv4_1_AC_joint_XY=61544;gnomADv4_1_AF_grpmax_joint=0.897959;gnomADv4_1_AF_joint=0.830274;gnomADv4_1_AF_joint_XX=0.832527;gnomADv4_1_AF_joint_XY=0.827916;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=52465;gnomADv4_1_nhomalt_joint_XX=26978;gnomADv4_1_nhomalt_joint_XY=25487;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27574168 chr22_27574168_C_T C T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.013;CADD_Rawscore=-1.17487;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs4822915|595|-1||||4||||||||Ensembl||C|C||||chr22:g.27574168C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs4822915|556|-1||||||||||||Ensembl||C|C||||chr22:g.27574168C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs4822915|579|-1||||||||||||Ensembl||C|C||||chr22:g.27574168C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=5431;gnomADv4_1_AC_joint_XX=2743;gnomADv4_1_AC_joint_XY=2688;gnomADv4_1_AF_grpmax_joint=0.0864865;gnomADv4_1_AF_joint=0.0356767;gnomADv4_1_AF_joint_XX=0.0352571;gnomADv4_1_AF_joint_XY=0.0361154;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152228;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=159;gnomADv4_1_nhomalt_joint_XX=71;gnomADv4_1_nhomalt_joint_XY=88;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27574483 chr22_27574483_G_T G T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.054;CADD_Rawscore=-0.779415;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs5762258|910|-1||||4||||||||Ensembl||G|G||||chr22:g.27574483G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs5762258|871|-1||||||||||||Ensembl||G|G||||chr22:g.27574483G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs5762258|894|-1||||||||||||Ensembl||G|G||||chr22:g.27574483G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=5534;gnomADv4_1_AC_joint_XX=2798;gnomADv4_1_AC_joint_XY=2736;gnomADv4_1_AF_grpmax_joint=0.0868726;gnomADv4_1_AF_joint=0.0363333;gnomADv4_1_AF_joint_XX=0.0359511;gnomADv4_1_AF_joint_XY=0.0367327;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152312;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74484;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=163;gnomADv4_1_nhomalt_joint_XX=72;gnomADv4_1_nhomalt_joint_XY=91;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27574607 chr22_27574607_T_G T G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.421;CADD_Rawscore=-0.236249;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs12169130|1034|-1||||4||||||||Ensembl||T|T||||chr22:g.27574607T>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs12169130|995|-1||||||||||||Ensembl||T|T||||chr22:g.27574607T>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs12169130|1018|-1||||||||||||Ensembl||T|T||||chr22:g.27574607T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=18673;gnomADv4_1_AC_joint_XX=9481;gnomADv4_1_AC_joint_XY=9192;gnomADv4_1_AF_grpmax_joint=0.234594;gnomADv4_1_AF_joint=0.123597;gnomADv4_1_AF_joint_XX=0.122566;gnomADv4_1_AF_joint_XY=0.124678;gnomADv4_1_AN_grpmax_joint=5128;gnomADv4_1_AN_joint=151080;gnomADv4_1_AN_joint_XX=77354;gnomADv4_1_AN_joint_XY=73726;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1188;gnomADv4_1_nhomalt_joint_XX=585;gnomADv4_1_nhomalt_joint_XY=603;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27574800 chr22_27574800_T_A T A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.787;CADD_Rawscore=-0.079387;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs34009833|1227|-1||||4||||||||Ensembl||T|T||||chr22:g.27574800T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs34009833|1188|-1||||||||||||Ensembl||T|T||||chr22:g.27574800T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs34009833|1211|-1||||||||||||Ensembl||T|T||||chr22:g.27574800T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=17566;gnomADv4_1_AC_joint_XX=8889;gnomADv4_1_AC_joint_XY=8677;gnomADv4_1_AF_grpmax_joint=0.23469;gnomADv4_1_AF_joint=0.115462;gnomADv4_1_AF_joint_XX=0.114304;gnomADv4_1_AF_joint_XY=0.116673;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1056;gnomADv4_1_nhomalt_joint_XX=514;gnomADv4_1_nhomalt_joint_XY=542;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27575122 chr22_27575122_G_A G A 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=5.539;CADD_Rawscore=0.507409;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs5762259|1549|-1||||4||||||||Ensembl||G|G||||chr22:g.27575122G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs5762259|1510|-1||||||||||||Ensembl||G|G||||chr22:g.27575122G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs5762259|1533|-1||||||||||||Ensembl||G|G||||chr22:g.27575122G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=126310;gnomADv4_1_AC_joint_XX=64625;gnomADv4_1_AC_joint_XY=61685;gnomADv4_1_AF_grpmax_joint=0.946693;gnomADv4_1_AF_joint=0.830451;gnomADv4_1_AF_joint_XX=0.830997;gnomADv4_1_AF_joint_XY=0.82988;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=52473;gnomADv4_1_nhomalt_joint_XX=26864;gnomADv4_1_nhomalt_joint_XY=25609;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27576518 chr22_27576518_A_G A G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=15.65;CADD_Rawscore=1.77055;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs9613472|2945|-1||||4||||||||Ensembl||A|A||||chr22:g.27576518A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs9613472|2906|-1||||||||||||Ensembl||A|A||||chr22:g.27576518A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs9613472|2929|-1||||||||||||Ensembl||A|A||||chr22:g.27576518A>G|||1||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DXJC|enhancer||||||||||rs9613472|||||||||||||||||||||chr22:g.27576518A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,ENSR22_9DXJC;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,.;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=63722;gnomADv4_1_AC_joint_XX=32531;gnomADv4_1_AC_joint_XY=31191;gnomADv4_1_AF_grpmax_joint=0.639456;gnomADv4_1_AF_joint=0.419334;gnomADv4_1_AF_joint_XX=0.418771;gnomADv4_1_AF_joint_XY=0.419922;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151960;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=15546;gnomADv4_1_nhomalt_joint_XX=8006;gnomADv4_1_nhomalt_joint_XY=7540;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27577303 chr22_27577303_C_T C T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=19.16;CADD_Rawscore=2.53739;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs13053396|3730|-1||||4||||||||Ensembl||C|C||||chr22:g.27577303C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs13053396|3691|-1||||||||||||Ensembl||C|C||||chr22:g.27577303C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs13053396|3714|-1||||||||||||Ensembl||C|C||||chr22:g.27577303C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DXJJ|enhancer||||||||||rs13053396|||||||||||||||||||||chr22:g.27577303C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,ENSR22_9DXJJ;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,.;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=14075;gnomADv4_1_AC_joint_XX=7043;gnomADv4_1_AC_joint_XY=7032;gnomADv4_1_AF_grpmax_joint=0.233514;gnomADv4_1_AF_joint=0.092477;gnomADv4_1_AF_joint_XX=0.090513;gnomADv4_1_AF_joint_XY=0.0945314;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152200;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=777;gnomADv4_1_nhomalt_joint_XX=361;gnomADv4_1_nhomalt_joint_XY=416;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27577477 chr22_27577477_C_G C G 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=16.06;CADD_Rawscore=1.8543;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs5762260|3904|-1||||4||||||||Ensembl||C|C||||chr22:g.27577477C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs5762260|3865|-1||||||||||||Ensembl||C|C||||chr22:g.27577477C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs5762260|3888|-1||||||||||||Ensembl||C|C||||chr22:g.27577477C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DXJJ|enhancer||||||||||rs5762260|||||||||||||||||||||chr22:g.27577477C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706,ENSR22_9DXJJ;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027,.;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=5696;gnomADv4_1_AC_joint_XX=2878;gnomADv4_1_AC_joint_XY=2818;gnomADv4_1_AF_grpmax_joint=0.0849749;gnomADv4_1_AF_joint=0.0374122;gnomADv4_1_AF_joint_XX=0.0369913;gnomADv4_1_AF_joint_XY=0.0378519;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152250;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=170;gnomADv4_1_nhomalt_joint_XX=75;gnomADv4_1_nhomalt_joint_XY=95;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27577608 chr22_27577608_C_T C T 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.09;CADD_Rawscore=-0.640452;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs1547072|4035|-1||||4||||||||Ensembl||C|C||||chr22:g.27577608C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs1547072|3996|-1||||||||||||Ensembl||C|C||||chr22:g.27577608C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs1547072|4019|-1||||||||||||Ensembl||C|C||||chr22:g.27577608C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=17222;gnomADv4_1_AC_joint_XX=8941;gnomADv4_1_AC_joint_XY=8281;gnomADv4_1_AF_grpmax_joint=0.273698;gnomADv4_1_AF_joint=0.113136;gnomADv4_1_AF_joint_XX=0.114926;gnomADv4_1_AF_joint_XY=0.111265;gnomADv4_1_AN_grpmax_joint=41502;gnomADv4_1_AN_joint=152224;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1787;gnomADv4_1_nhomalt_joint_XX=920;gnomADv4_1_nhomalt_joint_XY=867;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27577640 chr22_27577640_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=7.947;CADD_Rawscore=0.762922;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs1547071|4067|-1||||4||||||||Ensembl||A|A||||chr22:g.27577640A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs1547071|4028|-1||||||||||||Ensembl||A|A||||chr22:g.27577640A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs1547071|4051|-1||||||||||||Ensembl||A|A||||chr22:g.27577640A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=150744;gnomADv4_1_AC_joint_XX=77020;gnomADv4_1_AC_joint_XY=73724;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.989536;gnomADv4_1_AF_joint_XX=0.989288;gnomADv4_1_AF_joint_XY=0.989796;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152338;gnomADv4_1_AN_joint_XX=77854;gnomADv4_1_AN_joint_XY=74484;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=74588;gnomADv4_1_nhomalt_joint_XX=38100;gnomADv4_1_nhomalt_joint_XY=36488;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27578570 chr22_27578570_T_A T A 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.011;CADD_Rawscore=-1.23347;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000415655|lncRNA||||||||||rs4822916|4997|-1||||4||||||||Ensembl||T|T||||chr22:g.27578570T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761705|lncRNA||||||||||rs4822916|4958|-1||||||||||||Ensembl||T|T||||chr22:g.27578570T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000224027|Transcript|ENST00000761706|lncRNA||||||||||rs4822916|4981|-1||||||||||||Ensembl||T|T||||chr22:g.27578570T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000415655,ENST00000761705,ENST00000761706;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000224027,ENSG00000224027,ENSG00000224027;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=5687;gnomADv4_1_AC_joint_XX=2871;gnomADv4_1_AC_joint_XY=2816;gnomADv4_1_AF_grpmax_joint=0.0865533;gnomADv4_1_AF_joint=0.0373864;gnomADv4_1_AF_joint_XX=0.0369156;gnomADv4_1_AF_joint_XY=0.037879;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=170;gnomADv4_1_nhomalt_joint_XX=76;gnomADv4_1_nhomalt_joint_XY=94;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27578858 chr22_27578858_A_C A C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.028;CADD_Rawscore=-0.961754;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs762064|||||||||||||||||||||chr22:g.27578858A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=127976;gnomADv4_1_AC_joint_XX=65493;gnomADv4_1_AC_joint_XY=62483;gnomADv4_1_AF_grpmax_joint=0.9468;gnomADv4_1_AF_joint=0.840697;gnomADv4_1_AF_joint_XX=0.841683;gnomADv4_1_AF_joint_XY=0.839667;gnomADv4_1_AN_grpmax_joint=5188;gnomADv4_1_AN_joint=152226;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=53809;gnomADv4_1_nhomalt_joint_XX=27566;gnomADv4_1_nhomalt_joint_XY=26243;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27579241 chr22_27579241_T_C T C 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.381;CADD_Rawscore=0.066371;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DXK3|open_chromatin_region||||||||||rs2065059|||||||||||||||||||||chr22:g.27579241T>C|||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs2065059|||||||||||||||||||||chr22:g.27579241T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENSR22_9DXK3,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=127358;gnomADv4_1_AC_joint_XX=65140;gnomADv4_1_AC_joint_XY=62218;gnomADv4_1_AF_grpmax_joint=0.946297;gnomADv4_1_AF_joint=0.837144;gnomADv4_1_AF_joint_XX=0.837577;gnomADv4_1_AF_joint_XY=0.836691;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=53297;gnomADv4_1_nhomalt_joint_XX=27279;gnomADv4_1_nhomalt_joint_XY=26018;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27579269 chr22_27579269_A_T A T 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.184;CADD_Rawscore=-0.448269;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DXK3|open_chromatin_region||||||||||rs11090500|||||||||||||||||||||chr22:g.27579269A>T|||||||||||||,T|intergenic_variant|MODIFIER|||||||||||||||rs11090500|||||||||||||||||||||chr22:g.27579269A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENSR22_9DXK3,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=17489;gnomADv4_1_AC_joint_XX=8847;gnomADv4_1_AC_joint_XY=8642;gnomADv4_1_AF_grpmax_joint=0.249516;gnomADv4_1_AF_joint=0.114919;gnomADv4_1_AF_joint_XX=0.113735;gnomADv4_1_AF_joint_XY=0.116156;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152186;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1064;gnomADv4_1_nhomalt_joint_XX=511;gnomADv4_1_nhomalt_joint_XY=553;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27579286 chr22_27579286_A_G A G 65 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=65;CADD_PHREDscore=4.934;CADD_Rawscore=0.449676;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs2065058|||||||||||||||||||||chr22:g.27579286A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=59086;gnomADv4_1_AC_joint_XX=30152;gnomADv4_1_AC_joint_XY=28934;gnomADv4_1_AF_grpmax_joint=0.588532;gnomADv4_1_AF_joint=0.388729;gnomADv4_1_AF_joint_XX=0.388077;gnomADv4_1_AF_joint_XY=0.389411;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12810;gnomADv4_1_nhomalt_joint_XX=6530;gnomADv4_1_nhomalt_joint_XY=6280;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27579360 chr22_27579360_A_T A T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.282;CADD_Rawscore=-0.33777;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs2065057|||||||||||||||||||||chr22:g.27579360A>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=59040;gnomADv4_1_AC_joint_XX=30133;gnomADv4_1_AC_joint_XY=28907;gnomADv4_1_AF_grpmax_joint=0.592218;gnomADv4_1_AF_joint=0.388329;gnomADv4_1_AF_joint_XX=0.387672;gnomADv4_1_AF_joint_XY=0.389016;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=152036;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12779;gnomADv4_1_nhomalt_joint_XX=6516;gnomADv4_1_nhomalt_joint_XY=6263;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27579490 chr22_27579490_A_G A G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.866;CADD_Rawscore=0.145567;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4822917|||||||||||||||||||||chr22:g.27579490A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=48459;gnomADv4_1_AC_joint_XX=24600;gnomADv4_1_AC_joint_XY=23859;gnomADv4_1_AF_grpmax_joint=0.548932;gnomADv4_1_AF_joint=0.318629;gnomADv4_1_AF_joint_XX=0.316407;gnomADv4_1_AF_joint_XY=0.320953;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152086;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7990;gnomADv4_1_nhomalt_joint_XX=4027;gnomADv4_1_nhomalt_joint_XY=3963;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27580242 chr22_27580242_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.037;CADD_Rawscore=-0.883033;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs1012769|||||||||||||||||||||chr22:g.27580242T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=132688;gnomADv4_1_AC_joint_XX=67900;gnomADv4_1_AC_joint_XY=64788;gnomADv4_1_AF_grpmax_joint=0.953264;gnomADv4_1_AF_joint=0.871445;gnomADv4_1_AF_joint_XX=0.872571;gnomADv4_1_AF_joint_XY=0.870268;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152262;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=58009;gnomADv4_1_nhomalt_joint_XX=29716;gnomADv4_1_nhomalt_joint_XY=28293;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27580879 chr22_27580879_G_A G A 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.268;CADD_Rawscore=-0.351196;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs4820767|||||||||||||||||||||chr22:g.27580879G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=4758;gnomADv4_1_AC_joint_XX=2427;gnomADv4_1_AC_joint_XY=2331;gnomADv4_1_AF_grpmax_joint=0.0705975;gnomADv4_1_AF_joint=0.0312541;gnomADv4_1_AF_joint_XX=0.031193;gnomADv4_1_AF_joint_XY=0.031318;gnomADv4_1_AN_grpmax_joint=15298;gnomADv4_1_AN_joint=152236;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=119;gnomADv4_1_nhomalt_joint_XX=53;gnomADv4_1_nhomalt_joint_XY=66;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27581434 chr22_27581434_C_T C T 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.146;CADD_Rawscore=-0.509796;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs73160595|||||||||||||||||||||chr22:g.27581434C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=5687;gnomADv4_1_AC_joint_XX=2936;gnomADv4_1_AC_joint_XY=2751;gnomADv4_1_AF_grpmax_joint=0.083235;gnomADv4_1_AF_joint=0.0373894;gnomADv4_1_AF_joint_XX=0.0377611;gnomADv4_1_AF_joint_XY=0.0370007;gnomADv4_1_AN_grpmax_joint=15258;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=170;gnomADv4_1_nhomalt_joint_XX=74;gnomADv4_1_nhomalt_joint_XY=96;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27581438 chr22_27581438_T_C T C 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.336;CADD_Rawscore=-0.293567;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs73160596|||||||||||||||||||||chr22:g.27581438T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=6149;gnomADv4_1_AC_joint_XX=3185;gnomADv4_1_AC_joint_XY=2964;gnomADv4_1_AF_grpmax_joint=0.0834969;gnomADv4_1_AF_joint=0.0404013;gnomADv4_1_AF_joint_XX=0.0409509;gnomADv4_1_AF_joint_XY=0.0398269;gnomADv4_1_AN_grpmax_joint=15282;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=183;gnomADv4_1_nhomalt_joint_XX=85;gnomADv4_1_nhomalt_joint_XY=98;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27581532 chr22_27581532_C_G C G 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.342;CADD_Rawscore=0.30643;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs6519720|||||||||||||||||||||chr22:g.27581532C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=32244;gnomADv4_1_AC_joint_XX=16430;gnomADv4_1_AC_joint_XY=15814;gnomADv4_1_AF_grpmax_joint=0.327653;gnomADv4_1_AF_joint=0.21185;gnomADv4_1_AF_joint_XX=0.211166;gnomADv4_1_AF_joint_XY=0.212565;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152202;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3610;gnomADv4_1_nhomalt_joint_XX=1872;gnomADv4_1_nhomalt_joint_XY=1738;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27581866 chr22_27581866_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=8.318;CADD_Rawscore=0.803407;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DXKT|enhancer||||||||||rs111778761|||||||||||||||||||||chr22:g.27581866C>T|||||||||||||,T|intergenic_variant|MODIFIER|||||||||||||||rs111778761|||||||||||||||||||||chr22:g.27581866C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENSR22_9DXKT,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=4019;gnomADv4_1_AC_joint_XX=2226;gnomADv4_1_AC_joint_XY=1793;gnomADv4_1_AF_grpmax_joint=0.0646259;gnomADv4_1_AF_joint=0.0263887;gnomADv4_1_AF_joint_XX=0.0286001;gnomADv4_1_AF_joint_XY=0.0240775;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152300;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=91;gnomADv4_1_nhomalt_joint_XX=55;gnomADv4_1_nhomalt_joint_XY=36;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27581994 chr22_27581994_A_T A T 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=12.4;CADD_Rawscore=1.22827;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DXKT|enhancer||||||||||rs2103861|||||||||||||||||||||chr22:g.27581994A>T|||1||||||||||,T|intergenic_variant|MODIFIER|||||||||||||||rs2103861|||||||||||||||||||||chr22:g.27581994A>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENSR22_9DXKT,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=99018;gnomADv4_1_AC_joint_XX=50605;gnomADv4_1_AC_joint_XY=48413;gnomADv4_1_AF_grpmax_joint=0.752532;gnomADv4_1_AF_joint=0.651511;gnomADv4_1_AF_joint_XX=0.651471;gnomADv4_1_AF_joint_XY=0.651553;gnomADv4_1_AN_grpmax_joint=41468;gnomADv4_1_AN_joint=151982;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=32733;gnomADv4_1_nhomalt_joint_XX=16740;gnomADv4_1_nhomalt_joint_XY=15993;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27582311 chr22_27582311_G_A G A 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.25;CADD_Rawscore=-0.369256;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs1884289|||||||||||||||||||||chr22:g.27582311G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=98809;gnomADv4_1_AC_joint_XX=50499;gnomADv4_1_AC_joint_XY=48310;gnomADv4_1_AF_grpmax_joint=0.746664;gnomADv4_1_AF_joint=0.649478;gnomADv4_1_AF_joint_XX=0.649238;gnomADv4_1_AF_joint_XY=0.64973;gnomADv4_1_AN_grpmax_joint=41518;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=32546;gnomADv4_1_nhomalt_joint_XX=16633;gnomADv4_1_nhomalt_joint_XY=15913;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27582551 chr22_27582551_C_T C T 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.076;CADD_Rawscore=-0.685519;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs2880624|||||||||||||||||||||chr22:g.27582551C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=99083;gnomADv4_1_AC_joint_XX=50647;gnomADv4_1_AC_joint_XY=48436;gnomADv4_1_AF_grpmax_joint=0.752302;gnomADv4_1_AF_joint=0.651356;gnomADv4_1_AF_joint_XX=0.651308;gnomADv4_1_AF_joint_XY=0.651407;gnomADv4_1_AN_grpmax_joint=41494;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=32750;gnomADv4_1_nhomalt_joint_XX=16746;gnomADv4_1_nhomalt_joint_XY=16004;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27582604 chr22_27582604_C_A C A 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.182;CADD_Rawscore=-0.451362;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5762261|||||||||||||||||||||chr22:g.27582604C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=99077;gnomADv4_1_AC_joint_XX=50639;gnomADv4_1_AC_joint_XY=48438;gnomADv4_1_AF_grpmax_joint=0.752121;gnomADv4_1_AF_joint=0.651411;gnomADv4_1_AF_joint_XX=0.651238;gnomADv4_1_AF_joint_XY=0.651591;gnomADv4_1_AN_grpmax_joint=41492;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=32749;gnomADv4_1_nhomalt_joint_XX=16744;gnomADv4_1_nhomalt_joint_XY=16005;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27582927 chr22_27582927_C_G C G 60 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.061;CADD_Rawscore=-0.744152;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs738755|||||||||||||||||||||chr22:g.27582927C>G|||1||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=100354;gnomADv4_1_AC_joint_XX=51381;gnomADv4_1_AC_joint_XY=48973;gnomADv4_1_AF_grpmax_joint=0.755508;gnomADv4_1_AF_joint=0.66005;gnomADv4_1_AF_joint_XX=0.660951;gnomADv4_1_AF_joint_XY=0.659107;gnomADv4_1_AN_grpmax_joint=41482;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=33549;gnomADv4_1_nhomalt_joint_XX=17192;gnomADv4_1_nhomalt_joint_XY=16357;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27583507 chr22_27583507_C_G C G 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.142;CADD_Rawscore=0.016707;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5752593|||||||||||||||||||||chr22:g.27583507C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=59011;gnomADv4_1_AC_joint_XX=29840;gnomADv4_1_AC_joint_XY=29171;gnomADv4_1_AF_grpmax_joint=0.693116;gnomADv4_1_AF_joint=0.38846;gnomADv4_1_AF_joint_XX=0.38412;gnomADv4_1_AF_joint_XY=0.393002;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=151910;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11970;gnomADv4_1_nhomalt_joint_XX=5968;gnomADv4_1_nhomalt_joint_XY=6002;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27583832 chr22_27583832_T_A T A 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.536;CADD_Rawscore=-0.175612;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs11704837|||||||||||||||||||||chr22:g.27583832T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=54461;gnomADv4_1_AC_joint_XX=27450;gnomADv4_1_AC_joint_XY=27011;gnomADv4_1_AF_grpmax_joint=0.693838;gnomADv4_1_AF_joint=0.358513;gnomADv4_1_AF_joint_XX=0.353346;gnomADv4_1_AF_joint_XY=0.363922;gnomADv4_1_AN_grpmax_joint=5128;gnomADv4_1_AN_joint=151908;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10112;gnomADv4_1_nhomalt_joint_XX=4997;gnomADv4_1_nhomalt_joint_XY=5115;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27584146 chr22_27584146_C_G C G 60 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=6.391;CADD_Rawscore=0.593328;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs2064594|||||||||||||||||||||chr22:g.27584146C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=90006;gnomADv4_1_AC_joint_XX=45979;gnomADv4_1_AC_joint_XY=44027;gnomADv4_1_AF_grpmax_joint=0.764397;gnomADv4_1_AF_joint=0.592308;gnomADv4_1_AF_joint_XX=0.591689;gnomADv4_1_AF_joint_XY=0.592956;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151958;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=27079;gnomADv4_1_nhomalt_joint_XX=13833;gnomADv4_1_nhomalt_joint_XY=13246;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27584165 chr22_27584165_G_T G T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.507;CADD_Rawscore=0.50421;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs2064593|||||||||||||||||||||chr22:g.27584165G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=28960;gnomADv4_1_AC_joint_XX=14521;gnomADv4_1_AC_joint_XY=14439;gnomADv4_1_AF_grpmax_joint=0.425768;gnomADv4_1_AF_joint=0.190429;gnomADv4_1_AF_joint_XX=0.186809;gnomADv4_1_AF_joint_XY=0.194214;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2958;gnomADv4_1_nhomalt_joint_XX=1434;gnomADv4_1_nhomalt_joint_XY=1524;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27584218 chr22_27584218_T_C T C 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=6.022;CADD_Rawscore=0.555418;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4364106|||||||||||||||||||||chr22:g.27584218T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=90106;gnomADv4_1_AC_joint_XX=46017;gnomADv4_1_AC_joint_XY=44089;gnomADv4_1_AF_grpmax_joint=0.764147;gnomADv4_1_AF_joint=0.592678;gnomADv4_1_AF_joint_XX=0.591996;gnomADv4_1_AF_joint_XY=0.593392;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=27122;gnomADv4_1_nhomalt_joint_XX=13847;gnomADv4_1_nhomalt_joint_XY=13275;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27584790 chr22_27584790_C_T C T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.75;AF_XX=.;AF_XY=0.75;AN=4;AN_XX=0;AN_XY=4;AQ=54;CADD_PHREDscore=0.24;CADD_Rawscore=-0.379691;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762262|||||||||||||||||||||chr22:g.27584790C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=28513;gnomADv4_1_AC_joint_XX=14295;gnomADv4_1_AC_joint_XY=14218;gnomADv4_1_AF_grpmax_joint=0.426602;gnomADv4_1_AF_joint=0.187655;gnomADv4_1_AF_joint_XX=0.184005;gnomADv4_1_AF_joint_XY=0.191473;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151944;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2885;gnomADv4_1_nhomalt_joint_XX=1395;gnomADv4_1_nhomalt_joint_XY=1490;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27584915 chr22_27584915_T_C T C 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.533;CADD_Rawscore=-0.17714;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762263|||||||||||||||||||||chr22:g.27584915T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=90484;gnomADv4_1_AC_joint_XX=46214;gnomADv4_1_AC_joint_XY=44270;gnomADv4_1_AF_grpmax_joint=0.764056;gnomADv4_1_AF_joint=0.595109;gnomADv4_1_AF_joint_XX=0.594668;gnomADv4_1_AF_joint_XY=0.595571;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=27344;gnomADv4_1_nhomalt_joint_XX=13969;gnomADv4_1_nhomalt_joint_XY=13375;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27585133 chr22_27585133_T_C T C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.148;CADD_Rawscore=0.018004;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762264|||||||||||||||||||||chr22:g.27585133T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=90413;gnomADv4_1_AC_joint_XX=46198;gnomADv4_1_AC_joint_XY=44215;gnomADv4_1_AF_grpmax_joint=0.764419;gnomADv4_1_AF_joint=0.594987;gnomADv4_1_AF_joint_XX=0.594615;gnomADv4_1_AF_joint_XY=0.595376;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=151958;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=27305;gnomADv4_1_nhomalt_joint_XX=13956;gnomADv4_1_nhomalt_joint_XY=13349;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27585409 chr22_27585409_G_A G A 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.982;CADD_Rawscore=-0.022386;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5997275|||||||||||||||||||||chr22:g.27585409G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=41491;gnomADv4_1_AC_joint_XX=21226;gnomADv4_1_AC_joint_XY=20265;gnomADv4_1_AF_grpmax_joint=0.422589;gnomADv4_1_AF_joint=0.272734;gnomADv4_1_AF_joint_XX=0.273031;gnomADv4_1_AF_joint_XY=0.272423;gnomADv4_1_AN_grpmax_joint=41454;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6524;gnomADv4_1_nhomalt_joint_XX=3320;gnomADv4_1_nhomalt_joint_XY=3204;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27585583 chr22_27585583_A_T A T 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.38;CADD_Rawscore=0.309809;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs55924866|||||||||||||||||||||chr22:g.27585583A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=6099;gnomADv4_1_AC_joint_XX=3159;gnomADv4_1_AC_joint_XY=2940;gnomADv4_1_AF_grpmax_joint=0.0873348;gnomADv4_1_AF_joint=0.0400786;gnomADv4_1_AF_joint_XX=0.0406208;gnomADv4_1_AF_joint_XY=0.0395119;gnomADv4_1_AN_grpmax_joint=15286;gnomADv4_1_AN_joint=152176;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=194;gnomADv4_1_nhomalt_joint_XX=89;gnomADv4_1_nhomalt_joint_XY=105;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27585657 chr22_27585657_C_T C T 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.85;CADD_Rawscore=0.143328;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762265|||||||||||||||||||||chr22:g.27585657C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=28033;gnomADv4_1_AC_joint_XX=14013;gnomADv4_1_AC_joint_XY=14020;gnomADv4_1_AF_grpmax_joint=0.426408;gnomADv4_1_AF_joint=0.184297;gnomADv4_1_AF_joint_XX=0.180255;gnomADv4_1_AF_joint_XY=0.188522;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152108;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2803;gnomADv4_1_nhomalt_joint_XX=1350;gnomADv4_1_nhomalt_joint_XY=1453;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27585918 chr22_27585918_A_G A G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.099;CADD_Rawscore=-0.615314;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5762266|||||||||||||||||||||chr22:g.27585918A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=28089;gnomADv4_1_AC_joint_XX=14064;gnomADv4_1_AC_joint_XY=14025;gnomADv4_1_AF_grpmax_joint=0.425205;gnomADv4_1_AF_joint=0.184806;gnomADv4_1_AF_joint_XX=0.181004;gnomADv4_1_AF_joint_XY=0.188782;gnomADv4_1_AN_grpmax_joint=5134;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2801;gnomADv4_1_nhomalt_joint_XX=1358;gnomADv4_1_nhomalt_joint_XY=1443;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27585923 chr22_27585923_A_G A G 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.391;CADD_Rawscore=-0.254767;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5762267|||||||||||||||||||||chr22:g.27585923A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=68752;gnomADv4_1_AC_joint_XX=35008;gnomADv4_1_AC_joint_XY=33744;gnomADv4_1_AF_grpmax_joint=0.755361;gnomADv4_1_AF_joint=0.452506;gnomADv4_1_AF_joint_XX=0.450832;gnomADv4_1_AF_joint_XY=0.454257;gnomADv4_1_AN_grpmax_joint=5130;gnomADv4_1_AN_joint=151936;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15832;gnomADv4_1_nhomalt_joint_XX=8036;gnomADv4_1_nhomalt_joint_XY=7796;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27587452 chr22_27587452_T_G T G 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.038;CADD_Rawscore=-0.00818;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs115305202|||||||||||||||||||||chr22:g.27587452T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=6099;gnomADv4_1_AC_joint_XX=3155;gnomADv4_1_AC_joint_XY=2944;gnomADv4_1_AF_grpmax_joint=0.0868711;gnomADv4_1_AF_joint=0.0401197;gnomADv4_1_AF_joint_XX=0.0405965;gnomADv4_1_AF_joint_XY=0.039621;gnomADv4_1_AN_grpmax_joint=15264;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=194;gnomADv4_1_nhomalt_joint_XX=88;gnomADv4_1_nhomalt_joint_XY=106;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27587461 chr22_27587461_G_A G A 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.162;CADD_Rawscore=-0.482851;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs11703695|||||||||||||||||||||chr22:g.27587461G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26064;gnomADv4_1_AC_joint_XX=13452;gnomADv4_1_AC_joint_XY=12612;gnomADv4_1_AF_grpmax_joint=0.278912;gnomADv4_1_AF_joint=0.171611;gnomADv4_1_AF_joint_XX=0.17319;gnomADv4_1_AF_joint_XY=0.169959;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151878;gnomADv4_1_AN_joint_XX=77672;gnomADv4_1_AN_joint_XY=74206;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2852;gnomADv4_1_nhomalt_joint_XX=1512;gnomADv4_1_nhomalt_joint_XY=1340;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27588064 chr22_27588064_G_C G C 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.286;CADD_Rawscore=0.047734;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5752594|||||||||||||||||||||chr22:g.27588064G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=68485;gnomADv4_1_AC_joint_XX=34883;gnomADv4_1_AC_joint_XY=33602;gnomADv4_1_AF_grpmax_joint=0.755913;gnomADv4_1_AF_joint=0.450435;gnomADv4_1_AF_joint_XX=0.448725;gnomADv4_1_AF_joint_XY=0.452223;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15716;gnomADv4_1_nhomalt_joint_XX=7987;gnomADv4_1_nhomalt_joint_XY=7729;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27588404 chr22_27588404_C_T C T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=5.189;CADD_Rawscore=0.473666;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs79538489|||||||||||||||||||||chr22:g.27588404C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=6101;gnomADv4_1_AC_joint_XX=3161;gnomADv4_1_AC_joint_XY=2940;gnomADv4_1_AF_grpmax_joint=0.087147;gnomADv4_1_AF_joint=0.0400649;gnomADv4_1_AF_joint_XX=0.0406204;gnomADv4_1_AF_joint_XY=0.0394843;gnomADv4_1_AN_grpmax_joint=15296;gnomADv4_1_AN_joint=152278;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=196;gnomADv4_1_nhomalt_joint_XX=90;gnomADv4_1_nhomalt_joint_XY=106;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27588505 chr22_27588505_C_T C T 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=6.222;CADD_Rawscore=0.575826;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs568719266|||||||||||||||||||||chr22:g.27588505C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=375;gnomADv4_1_AC_joint_XX=168;gnomADv4_1_AC_joint_XY=207;gnomADv4_1_AF_grpmax_joint=0.00560166;gnomADv4_1_AF_joint=0.00246231;gnomADv4_1_AF_joint_XX=0.00215827;gnomADv4_1_AF_joint_XY=0.00278017;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152296;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=7;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=6;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27588819 chr22_27588819_G_A G A 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.101;CADD_Rawscore=-0.607597;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs68041361|||||||||||||||||||||chr22:g.27588819G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=41643;gnomADv4_1_AC_joint_XX=21321;gnomADv4_1_AC_joint_XY=20322;gnomADv4_1_AF_grpmax_joint=0.424913;gnomADv4_1_AF_joint=0.273726;gnomADv4_1_AF_joint_XX=0.274169;gnomADv4_1_AF_joint_XY=0.273263;gnomADv4_1_AN_grpmax_joint=41472;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6571;gnomADv4_1_nhomalt_joint_XX=3347;gnomADv4_1_nhomalt_joint_XY=3224;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27589181 chr22_27589181_A_G A G 46 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.311;CADD_Rawscore=0.052866;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4822918|||||||||||||||||||||chr22:g.27589181A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=134058;gnomADv4_1_AC_joint_XX=68621;gnomADv4_1_AC_joint_XY=65437;gnomADv4_1_AF_grpmax_joint=0.998837;gnomADv4_1_AF_joint=0.882913;gnomADv4_1_AF_joint_XX=0.88354;gnomADv4_1_AF_joint_XY=0.882257;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151836;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=74170;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=59477;gnomADv4_1_nhomalt_joint_XX=30475;gnomADv4_1_nhomalt_joint_XY=29002;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27589191 chr22_27589191_GCATCATCATCACTATCATCATCACCAT_G GCATCATCATCACTATCATCATCACCAT G 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=19;CADDIndel_PHREDscore=2.597;CADDIndel_Rawscore=0.234075;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs67791964|||||||||||||||||||||chr22:g.27589231_27589257del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=100774;gnomADv4_1_AC_joint_XX=51984;gnomADv4_1_AC_joint_XY=48790;gnomADv4_1_AF_grpmax_joint=0.726439;gnomADv4_1_AF_joint=0.679812;gnomADv4_1_AF_joint_XX=0.68355;gnomADv4_1_AF_joint_XY=0.675874;gnomADv4_1_AN_grpmax_joint=40024;gnomADv4_1_AN_joint=148238;gnomADv4_1_AN_joint_XX=76050;gnomADv4_1_AN_joint_XY=72188;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=34459;gnomADv4_1_nhomalt_joint_XX=17856;gnomADv4_1_nhomalt_joint_XY=16603;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27589230 chr22_27589230_CTATCAT_C CTATCAT C 37 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=2.534;CADDIndel_Rawscore=0.22741;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs879675724|||||||||||||||||||||chr22:g.27589231_27589236del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26248;gnomADv4_1_AC_joint_XX=13298;gnomADv4_1_AC_joint_XY=12950;gnomADv4_1_AF_grpmax_joint=0.504705;gnomADv4_1_AF_joint=0.249544;gnomADv4_1_AF_joint_XX=0.246369;gnomADv4_1_AF_joint_XY=0.25289;gnomADv4_1_AN_grpmax_joint=3826;gnomADv4_1_AN_joint=105184;gnomADv4_1_AN_joint_XX=53976;gnomADv4_1_AN_joint_XY=51208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2471;gnomADv4_1_nhomalt_joint_XX=1227;gnomADv4_1_nhomalt_joint_XY=1244;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27589245 chr22_27589245_TCATCATCATCACCATCAC_T TCATCATCATCACCATCAC T 32 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=32;CADDIndel_PHREDscore=4.777;CADDIndel_Rawscore=0.435149;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs1230902379|||||||||||||||||||||chr22:g.27589257_27589274del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26160;gnomADv4_1_AC_joint_XX=13226;gnomADv4_1_AC_joint_XY=12934;gnomADv4_1_AF_grpmax_joint=0.403253;gnomADv4_1_AF_joint=0.176397;gnomADv4_1_AF_joint_XX=0.173811;gnomADv4_1_AF_joint_XY=0.179121;gnomADv4_1_AN_grpmax_joint=4796;gnomADv4_1_AN_joint=148302;gnomADv4_1_AN_joint_XX=76094;gnomADv4_1_AN_joint_XY=72208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2437;gnomADv4_1_nhomalt_joint_XX=1214;gnomADv4_1_nhomalt_joint_XY=1223;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27590767 chr22_27590767_CTTT_C;chr22_27590767_CT_C;chr22_27590767_C_CTT CTTT C 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADDIndel_PHREDscore=0.971;CADDIndel_Rawscore=-0.025511;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs10660750|||||||||||||||||||||chr22:g.27590786_27590788del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=21970;gnomADv4_1_AC_joint_XX=11503;gnomADv4_1_AC_joint_XY=10467;gnomADv4_1_AF_grpmax_joint=0.388715;gnomADv4_1_AF_joint=0.188509;gnomADv4_1_AF_joint_XX=0.184331;gnomADv4_1_AF_joint_XY=0.193325;gnomADv4_1_AN_grpmax_joint=3828;gnomADv4_1_AN_joint=116546;gnomADv4_1_AN_joint_XX=62404;gnomADv4_1_AN_joint_XY=54142;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1573;gnomADv4_1_nhomalt_joint_XX=795;gnomADv4_1_nhomalt_joint_XY=778;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27590767 chr22_27590767_CTTT_C;chr22_27590767_CT_C;chr22_27590767_C_CTT CT C 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=33;CADDIndel_PHREDscore=0.136;CADDIndel_Rawscore=-0.529718;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs10660750|||||||||||||||||||||chr22:g.27590788del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=6757;gnomADv4_1_AC_joint_XX=3632;gnomADv4_1_AC_joint_XY=3125;gnomADv4_1_AF_grpmax_joint=0.0970345;gnomADv4_1_AF_joint=0.0578609;gnomADv4_1_AF_joint_XX=0.0581064;gnomADv4_1_AF_joint_XY=0.0575782;gnomADv4_1_AN_grpmax_joint=10656;gnomADv4_1_AN_joint=116780;gnomADv4_1_AN_joint_XX=62506;gnomADv4_1_AN_joint_XY=54274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=112;gnomADv4_1_nhomalt_joint_XX=48;gnomADv4_1_nhomalt_joint_XY=64;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27590767 chr22_27590767_CTTT_C;chr22_27590767_CT_C;chr22_27590767_C_CTT C CTT 48 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=21;CADDIndel_PHREDscore=0.984;CADDIndel_Rawscore=-0.021953;CSQ=TT|intergenic_variant|MODIFIER|||||||||||||||rs10660750|||||||||||||||||||||chr22:g.27590787_27590788dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=25059;gnomADv4_1_AC_joint_XX=13859;gnomADv4_1_AC_joint_XY=11200;gnomADv4_1_AF_grpmax_joint=0.291667;gnomADv4_1_AF_joint=0.214936;gnomADv4_1_AF_joint_XX=0.221836;gnomADv4_1_AF_joint_XY=0.20697;gnomADv4_1_AN_grpmax_joint=168;gnomADv4_1_AN_joint=116588;gnomADv4_1_AN_joint_XX=62474;gnomADv4_1_AN_joint_XY=54114;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2979;gnomADv4_1_nhomalt_joint_XX=1654;gnomADv4_1_nhomalt_joint_XY=1325;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27590856 chr22_27590856_A_G A G 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=8.224;CADD_Rawscore=0.793298;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs7292546|||||||||||||||||||||chr22:g.27590856A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=128950;gnomADv4_1_AC_joint_XX=66218;gnomADv4_1_AC_joint_XY=62732;gnomADv4_1_AF_grpmax_joint=0.998785;gnomADv4_1_AF_joint=0.86532;gnomADv4_1_AF_joint_XX=0.865097;gnomADv4_1_AF_joint_XY=0.865555;gnomADv4_1_AN_grpmax_joint=4938;gnomADv4_1_AN_joint=149020;gnomADv4_1_AN_joint_XX=76544;gnomADv4_1_AN_joint_XY=72476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=55855;gnomADv4_1_nhomalt_joint_XX=28691;gnomADv4_1_nhomalt_joint_XY=27164;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27591241 chr22_27591241_G_A G A 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.503;CADD_Rawscore=-0.191434;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5762268|||||||||||||||||||||chr22:g.27591241G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=28496;gnomADv4_1_AC_joint_XX=14275;gnomADv4_1_AC_joint_XY=14221;gnomADv4_1_AF_grpmax_joint=0.42407;gnomADv4_1_AF_joint=0.187412;gnomADv4_1_AF_joint_XX=0.183615;gnomADv4_1_AF_joint_XY=0.191384;gnomADv4_1_AN_grpmax_joint=5110;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2913;gnomADv4_1_nhomalt_joint_XX=1424;gnomADv4_1_nhomalt_joint_XY=1489;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27591879 chr22_27591879_G_T G T 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=2.764;CADD_Rawscore=0.251337;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs4822919|||||||||||||||||||||chr22:g.27591879G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=103846;gnomADv4_1_AC_joint_XX=52939;gnomADv4_1_AC_joint_XY=50907;gnomADv4_1_AF_grpmax_joint=0.928433;gnomADv4_1_AF_joint=0.683116;gnomADv4_1_AF_joint_XX=0.680975;gnomADv4_1_AF_joint_XY=0.685358;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=36174;gnomADv4_1_nhomalt_joint_XX=18361;gnomADv4_1_nhomalt_joint_XY=17813;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27591895 chr22_27591895_A_C A C 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.608;CADD_Rawscore=-0.144436;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4822920|||||||||||||||||||||chr22:g.27591895A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=6090;gnomADv4_1_AC_joint_XX=3144;gnomADv4_1_AC_joint_XY=2946;gnomADv4_1_AF_grpmax_joint=0.0865586;gnomADv4_1_AF_joint=0.0399916;gnomADv4_1_AF_joint_XX=0.0404061;gnomADv4_1_AF_joint_XY=0.0395585;gnomADv4_1_AN_grpmax_joint=15296;gnomADv4_1_AN_joint=152282;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=192;gnomADv4_1_nhomalt_joint_XX=90;gnomADv4_1_nhomalt_joint_XY=102;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27592272 chr22_27592272_G_C G C 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.588;CADD_Rawscore=-0.152579;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs73162308|||||||||||||||||||||chr22:g.27592272G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=6084;gnomADv4_1_AC_joint_XX=3145;gnomADv4_1_AC_joint_XY=2939;gnomADv4_1_AF_grpmax_joint=0.08659;gnomADv4_1_AF_joint=0.0399574;gnomADv4_1_AF_joint_XX=0.0404117;gnomADv4_1_AF_joint_XY=0.0394825;gnomADv4_1_AN_grpmax_joint=15302;gnomADv4_1_AN_joint=152262;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=189;gnomADv4_1_nhomalt_joint_XX=89;gnomADv4_1_nhomalt_joint_XY=100;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27592781 chr22_27592781_G_A G A 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.773;CADD_Rawscore=0.132147;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs4822921|||||||||||||||||||||chr22:g.27592781G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=6171;gnomADv4_1_AC_joint_XX=3183;gnomADv4_1_AC_joint_XY=2988;gnomADv4_1_AF_grpmax_joint=0.0865045;gnomADv4_1_AF_joint=0.0405214;gnomADv4_1_AF_joint_XX=0.0408979;gnomADv4_1_AF_joint_XY=0.0401279;gnomADv4_1_AN_grpmax_joint=15294;gnomADv4_1_AN_joint=152290;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=191;gnomADv4_1_nhomalt_joint_XX=89;gnomADv4_1_nhomalt_joint_XY=102;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27593205 chr22_27593205_T_C T C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.102;CADD_Rawscore=-0.606246;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs2016820|||||||||||||||||||||chr22:g.27593205T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=74772;gnomADv4_1_AC_joint_XX=38669;gnomADv4_1_AC_joint_XY=36103;gnomADv4_1_AF_grpmax_joint=0.560642;gnomADv4_1_AF_joint=0.49141;gnomADv4_1_AF_joint_XX=0.497082;gnomADv4_1_AF_joint_XY=0.485477;gnomADv4_1_AN_grpmax_joint=41506;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18763;gnomADv4_1_nhomalt_joint_XX=9745;gnomADv4_1_nhomalt_joint_XY=9018;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27593235 chr22_27593235_C_G C G 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=6.089;CADD_Rawscore=0.562218;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs117458394|||||||||||||||||||||chr22:g.27593235C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=857;gnomADv4_1_AC_joint_XX=433;gnomADv4_1_AC_joint_XY=424;gnomADv4_1_AF_grpmax_joint=0.0117616;gnomADv4_1_AF_joint=0.00562779;gnomADv4_1_AF_joint_XX=0.00556312;gnomADv4_1_AF_joint_XY=0.0056954;gnomADv4_1_AN_grpmax_joint=15304;gnomADv4_1_AN_joint=152280;gnomADv4_1_AN_joint_XX=77834;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=2;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27593283 chr22_27593283_T_G T G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.893;CADD_Rawscore=0.355736;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs738754|||||||||||||||||||||chr22:g.27593283T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=121747;gnomADv4_1_AC_joint_XX=62138;gnomADv4_1_AC_joint_XY=59609;gnomADv4_1_AF_grpmax_joint=0.886945;gnomADv4_1_AF_joint=0.81861;gnomADv4_1_AF_joint_XX=0.817907;gnomADv4_1_AF_joint_XY=0.819345;gnomADv4_1_AN_grpmax_joint=5086;gnomADv4_1_AN_joint=148724;gnomADv4_1_AN_joint_XX=75972;gnomADv4_1_AN_joint_XY=72752;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=48976;gnomADv4_1_nhomalt_joint_XX=24958;gnomADv4_1_nhomalt_joint_XY=24018;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27593473 chr22_27593473_T_C T C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.969;CADD_Rawscore=0.15985;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5752595|||||||||||||||||||||chr22:g.27593473T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=28497;gnomADv4_1_AC_joint_XX=14249;gnomADv4_1_AC_joint_XY=14248;gnomADv4_1_AF_grpmax_joint=0.424952;gnomADv4_1_AF_joint=0.187246;gnomADv4_1_AF_joint_XX=0.183173;gnomADv4_1_AF_joint_XY=0.191505;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152190;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2922;gnomADv4_1_nhomalt_joint_XX=1416;gnomADv4_1_nhomalt_joint_XY=1506;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27593816 chr22_27593816_T_C T C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.769;CADD_Rawscore=0.344736;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs9613476|||||||||||||||||||||chr22:g.27593816T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=28527;gnomADv4_1_AC_joint_XX=14282;gnomADv4_1_AC_joint_XY=14245;gnomADv4_1_AF_grpmax_joint=0.425875;gnomADv4_1_AF_joint=0.187838;gnomADv4_1_AF_joint_XX=0.183847;gnomADv4_1_AF_joint_XY=0.192017;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151870;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74186;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2935;gnomADv4_1_nhomalt_joint_XX=1426;gnomADv4_1_nhomalt_joint_XY=1509;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27593929 chr22_27593929_T_C T C 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.211;CADD_Rawscore=-0.413187;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs9613477|||||||||||||||||||||chr22:g.27593929T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=28541;gnomADv4_1_AC_joint_XX=14262;gnomADv4_1_AC_joint_XY=14279;gnomADv4_1_AF_grpmax_joint=0.42533;gnomADv4_1_AF_joint=0.187921;gnomADv4_1_AF_joint_XX=0.18367;gnomADv4_1_AF_joint_XY=0.192367;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151878;gnomADv4_1_AN_joint_XX=77650;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2939;gnomADv4_1_nhomalt_joint_XX=1422;gnomADv4_1_nhomalt_joint_XY=1517;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27593985 chr22_27593985_T_C T C 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.405;CADD_Rawscore=-0.246164;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs17383163|||||||||||||||||||||chr22:g.27593985T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=19250;gnomADv4_1_AC_joint_XX=9868;gnomADv4_1_AC_joint_XY=9382;gnomADv4_1_AF_grpmax_joint=0.217687;gnomADv4_1_AF_joint=0.12646;gnomADv4_1_AF_joint_XX=0.126841;gnomADv4_1_AF_joint_XY=0.126061;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152222;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1517;gnomADv4_1_nhomalt_joint_XX=790;gnomADv4_1_nhomalt_joint_XY=727;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27594530 chr22_27594530_T_TA T TA 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=1.714;CADDIndel_Rawscore=0.123127;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs56323309|||||||||||||||||||||chr22:g.27594531dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=7815;gnomADv4_1_AC_joint_XX=4093;gnomADv4_1_AC_joint_XY=3722;gnomADv4_1_AF_grpmax_joint=0.0909804;gnomADv4_1_AF_joint=0.0513065;gnomADv4_1_AF_joint_XX=0.0525849;gnomADv4_1_AF_joint_XY=0.0499705;gnomADv4_1_AN_grpmax_joint=15300;gnomADv4_1_AN_joint=152320;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74484;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=247;gnomADv4_1_nhomalt_joint_XX=117;gnomADv4_1_nhomalt_joint_XY=130;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27594775 chr22_27594775_T_TCCACGAAACACACTCAACATAAGG T TCCACGAAACACACTCAACATAAGG 47 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=2.443;CADDIndel_Rawscore=0.217485;CSQ=CCACGAAACACACTCAACATAAGG|intergenic_variant|MODIFIER|||||||||||||||rs60166704|||||||||||||||||||||chr22:g.27594778_27594801dup|||||||||||||;TYPE=INDEL;VEP_Allele=CCACGAAACACACTCAACATAAGG;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=27107;gnomADv4_1_AC_joint_XX=13582;gnomADv4_1_AC_joint_XY=13525;gnomADv4_1_AF_grpmax_joint=0.420517;gnomADv4_1_AF_joint=0.178554;gnomADv4_1_AF_joint_XX=0.174958;gnomADv4_1_AF_joint_XY=0.182317;gnomADv4_1_AN_grpmax_joint=5108;gnomADv4_1_AN_joint=151814;gnomADv4_1_AN_joint_XX=77630;gnomADv4_1_AN_joint_XY=74184;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2641;gnomADv4_1_nhomalt_joint_XX=1277;gnomADv4_1_nhomalt_joint_XY=1364;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27594836 chr22_27594836_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.537;CADD_Rawscore=-0.175481;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs79716254|||||||||||||||||||||chr22:g.27594836G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=3058;gnomADv4_1_AC_joint_XX=1449;gnomADv4_1_AC_joint_XY=1609;gnomADv4_1_AF_grpmax_joint=0.113699;gnomADv4_1_AF_joint=0.0216186;gnomADv4_1_AF_joint_XX=0.0199477;gnomADv4_1_AF_joint_XY=0.0233825;gnomADv4_1_AN_grpmax_joint=4380;gnomADv4_1_AN_joint=141452;gnomADv4_1_AN_joint_XX=72640;gnomADv4_1_AN_joint_XY=68812;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=119;gnomADv4_1_nhomalt_joint_XX=58;gnomADv4_1_nhomalt_joint_XY=61;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27595108 chr22_27595108_A_G A G 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.583;CADD_Rawscore=-0.154594;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs738751|||||||||||||||||||||chr22:g.27595108A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=135970;gnomADv4_1_AC_joint_XX=69555;gnomADv4_1_AC_joint_XY=66415;gnomADv4_1_AF_grpmax_joint=0.99536;gnomADv4_1_AF_joint=0.892473;gnomADv4_1_AF_joint_XX=0.893472;gnomADv4_1_AF_joint_XY=0.891429;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152352;gnomADv4_1_AN_joint_XX=77848;gnomADv4_1_AN_joint_XY=74504;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=60969;gnomADv4_1_nhomalt_joint_XX=31222;gnomADv4_1_nhomalt_joint_XY=29747;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27596301 chr22_27596301_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.001;CADD_Rawscore=-2.28359;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs9613478|||||||||||||||||||||chr22:g.27596301G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=28345;gnomADv4_1_AC_joint_XX=14130;gnomADv4_1_AC_joint_XY=14215;gnomADv4_1_AF_grpmax_joint=0.462374;gnomADv4_1_AF_joint=0.186407;gnomADv4_1_AF_joint_XX=0.181797;gnomADv4_1_AF_joint_XY=0.191226;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152060;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2908;gnomADv4_1_nhomalt_joint_XX=1389;gnomADv4_1_nhomalt_joint_XY=1519;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27596452 chr22_27596452_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.259;CADD_Rawscore=-0.359838;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs9608623|||||||||||||||||||||chr22:g.27596452T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=34921;gnomADv4_1_AC_joint_XX=17598;gnomADv4_1_AC_joint_XY=17323;gnomADv4_1_AF_grpmax_joint=0.47596;gnomADv4_1_AF_joint=0.229873;gnomADv4_1_AF_joint_XX=0.22651;gnomADv4_1_AF_joint_XY=0.233394;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=151914;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4207;gnomADv4_1_nhomalt_joint_XX=2097;gnomADv4_1_nhomalt_joint_XY=2110;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27596786 chr22_27596786_C_T C T 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.249;CADD_Rawscore=-0.369738;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5752596|||||||||||||||||||||chr22:g.27596786C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=128322;gnomADv4_1_AC_joint_XX=65560;gnomADv4_1_AC_joint_XY=62762;gnomADv4_1_AF_grpmax_joint=0.995539;gnomADv4_1_AF_joint=0.843802;gnomADv4_1_AF_joint_XX=0.843476;gnomADv4_1_AF_joint_XY=0.844143;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=54231;gnomADv4_1_nhomalt_joint_XX=27700;gnomADv4_1_nhomalt_joint_XY=26531;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27597567 chr22_27597567_CA_C CA C 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=0.073;CADDIndel_Rawscore=-0.698307;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs35301367|||||||||||||||||||||chr22:g.27597579del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=54930;gnomADv4_1_AC_joint_XX=27882;gnomADv4_1_AC_joint_XY=27048;gnomADv4_1_AF_grpmax_joint=0.532213;gnomADv4_1_AF_joint=0.37763;gnomADv4_1_AF_joint_XX=0.372425;gnomADv4_1_AF_joint_XY=0.383149;gnomADv4_1_AN_grpmax_joint=4998;gnomADv4_1_AN_joint=145460;gnomADv4_1_AN_joint_XX=74866;gnomADv4_1_AN_joint_XY=70594;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10276;gnomADv4_1_nhomalt_joint_XX=5165;gnomADv4_1_nhomalt_joint_XY=5111;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27597636 chr22_27597636_A_C A C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.884;CADD_Rawscore=0.14812;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs9608624|||||||||||||||||||||chr22:g.27597636A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=29141;gnomADv4_1_AC_joint_XX=14606;gnomADv4_1_AC_joint_XY=14535;gnomADv4_1_AF_grpmax_joint=0.408949;gnomADv4_1_AF_joint=0.192023;gnomADv4_1_AF_joint_XX=0.18811;gnomADv4_1_AF_joint_XY=0.196122;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151758;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=74112;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3048;gnomADv4_1_nhomalt_joint_XX=1452;gnomADv4_1_nhomalt_joint_XY=1596;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27597937 chr22_27597937_A_G A G 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.345;CADD_Rawscore=-0.286754;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs5762269|4720|1||||||||||||Ensembl||A|A||||chr22:g.27597937A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RWHZ|open_chromatin_region||||||||||rs5762269|||||||||||||||||||||chr22:g.27597937A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000827824,ENSR22_8RWHZ;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000307679,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=44689;gnomADv4_1_AC_joint_XX=22784;gnomADv4_1_AC_joint_XY=21905;gnomADv4_1_AF_grpmax_joint=0.393468;gnomADv4_1_AF_joint=0.29413;gnomADv4_1_AF_joint_XX=0.29323;gnomADv4_1_AF_joint_XY=0.295072;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=151936;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6853;gnomADv4_1_nhomalt_joint_XX=3473;gnomADv4_1_nhomalt_joint_XY=3380;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27598098 chr22_27598098_T_C T C 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.772;CADD_Rawscore=-0.084094;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs2880625|4559|1||||||||||||Ensembl||T|T||||chr22:g.27598098T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=57791;gnomADv4_1_AC_joint_XX=29462;gnomADv4_1_AC_joint_XY=28329;gnomADv4_1_AF_grpmax_joint=0.578192;gnomADv4_1_AF_joint=0.380299;gnomADv4_1_AF_joint_XX=0.379157;gnomADv4_1_AF_joint_XY=0.381494;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151962;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11284;gnomADv4_1_nhomalt_joint_XX=5799;gnomADv4_1_nhomalt_joint_XY=5485;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27599344 chr22_27599344_A_AT A AT 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=0.221;CADDIndel_Rawscore=-0.401351;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs5844772|3312|1||||||||||||Ensembl|||||||chr22:g.27599352dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=121011;gnomADv4_1_AC_joint_XX=62178;gnomADv4_1_AC_joint_XY=58833;gnomADv4_1_AF_grpmax_joint=0.989084;gnomADv4_1_AF_joint=0.797741;gnomADv4_1_AF_joint_XX=0.801077;gnomADv4_1_AF_joint_XY=0.794246;gnomADv4_1_AN_grpmax_joint=5130;gnomADv4_1_AN_joint=151692;gnomADv4_1_AN_joint_XX=77618;gnomADv4_1_AN_joint_XY=74074;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=48997;gnomADv4_1_nhomalt_joint_XX=25284;gnomADv4_1_nhomalt_joint_XY=23713;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27599519 chr22_27599519_CA_C CA C 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.052;CADDIndel_Rawscore=-0.787781;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs5844773|3137|1||||||||||||Ensembl||A|A||||chr22:g.27599524del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=44415;gnomADv4_1_AC_joint_XX=22663;gnomADv4_1_AC_joint_XY=21752;gnomADv4_1_AF_grpmax_joint=0.390116;gnomADv4_1_AF_joint=0.292921;gnomADv4_1_AF_joint_XX=0.292245;gnomADv4_1_AF_joint_XY=0.293629;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151628;gnomADv4_1_AN_joint_XX=77548;gnomADv4_1_AN_joint_XY=74080;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6765;gnomADv4_1_nhomalt_joint_XX=3432;gnomADv4_1_nhomalt_joint_XY=3333;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27600369 chr22_27600369_G_GGT G GGT 49 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=3.897;CADDIndel_Rawscore=0.356083;CSQ=GT|upstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs34270230|2287|1||||||||||||Ensembl|||||||chr22:g.27600390_27600391dup|||||||||||||;TYPE=INDEL;VEP_Allele=GT;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=69817;gnomADv4_1_AC_joint_XX=35743;gnomADv4_1_AC_joint_XY=34074;gnomADv4_1_AF_grpmax_joint=0.773786;gnomADv4_1_AF_joint=0.46706;gnomADv4_1_AF_joint_XX=0.466424;gnomADv4_1_AF_joint_XY=0.467728;gnomADv4_1_AN_grpmax_joint=5066;gnomADv4_1_AN_joint=149482;gnomADv4_1_AN_joint_XX=76632;gnomADv4_1_AN_joint_XY=72850;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16583;gnomADv4_1_nhomalt_joint_XX=8452;gnomADv4_1_nhomalt_joint_XY=8131;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27600571 chr22_27600571_T_C T C 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.864;CADD_Rawscore=0.353131;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs5997276|2086|1||||||||||||Ensembl||T|T||||chr22:g.27600571T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=120659;gnomADv4_1_AC_joint_XX=61935;gnomADv4_1_AC_joint_XY=58724;gnomADv4_1_AF_grpmax_joint=0.993222;gnomADv4_1_AF_joint=0.793339;gnomADv4_1_AF_joint_XX=0.796366;gnomADv4_1_AF_joint_XY=0.790172;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152090;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=48569;gnomADv4_1_nhomalt_joint_XX=25029;gnomADv4_1_nhomalt_joint_XY=23540;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27601091 chr22_27601091_C_G C G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.703;CADD_Rawscore=0.245101;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs962981|1566|1||||||||||||Ensembl||C|C||||chr22:g.27601091C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=150617;gnomADv4_1_AC_joint_XX=76957;gnomADv4_1_AC_joint_XY=73660;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.989027;gnomADv4_1_AF_joint_XX=0.988758;gnomADv4_1_AF_joint_XY=0.989309;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152288;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=74487;gnomADv4_1_nhomalt_joint_XX=38048;gnomADv4_1_nhomalt_joint_XY=36439;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27601329 chr22_27601329_C_T C T 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.348;CADD_Rawscore=-0.284049;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs735848|1328|1||||||||||||Ensembl||C|C||||chr22:g.27601329C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=16947;gnomADv4_1_AC_joint_XX=8649;gnomADv4_1_AC_joint_XY=8298;gnomADv4_1_AF_grpmax_joint=0.174211;gnomADv4_1_AF_joint=0.111388;gnomADv4_1_AF_joint_XX=0.111175;gnomADv4_1_AF_joint_XY=0.11161;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1092;gnomADv4_1_nhomalt_joint_XX=562;gnomADv4_1_nhomalt_joint_XY=530;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27602055 chr22_27602055_A_T A T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.913;CADD_Rawscore=0.266078;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs729512|602|1||||||||||||Ensembl||A|A||||chr22:g.27602055A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=17321;gnomADv4_1_AC_joint_XX=8873;gnomADv4_1_AC_joint_XY=8448;gnomADv4_1_AF_grpmax_joint=0.17553;gnomADv4_1_AF_joint=0.113819;gnomADv4_1_AF_joint_XX=0.114069;gnomADv4_1_AF_joint_XY=0.113558;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1115;gnomADv4_1_nhomalt_joint_XX=572;gnomADv4_1_nhomalt_joint_XY=543;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27602748 chr22_27602748_G_A G A 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.084;CADD_Rawscore=-0.657976;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||1/3|ENST00000827824.1:n.79+13G>A|||||||rs5752597||1||||||||||||Ensembl||G|G||||chr22:g.27602748G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=83226;gnomADv4_1_AC_joint_XX=42746;gnomADv4_1_AC_joint_XY=40480;gnomADv4_1_AF_grpmax_joint=0.730509;gnomADv4_1_AF_joint=0.548073;gnomADv4_1_AF_joint_XX=0.550453;gnomADv4_1_AF_joint_XY=0.545582;gnomADv4_1_AN_grpmax_joint=41404;gnomADv4_1_AN_joint=151852;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74196;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23945;gnomADv4_1_nhomalt_joint_XX=12315;gnomADv4_1_nhomalt_joint_XY=11630;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27603918 chr22_27603918_C_T C T 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=14.86;CADD_Rawscore=1.61899;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||2/3|ENST00000827824.1:n.289+101C>T|||||||rs993621503||1||||||||||||Ensembl||C|C||||chr22:g.27603918C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DXS8|enhancer||||||||||rs993621503|||||||||||||||||||||chr22:g.27603918C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000827824,ENSR22_9DXS8;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000307679,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=270;gnomADv4_1_AC_joint_XX=151;gnomADv4_1_AC_joint_XY=119;gnomADv4_1_AF_grpmax_joint=0.000784827;gnomADv4_1_AF_joint=0.00177307;gnomADv4_1_AF_joint_XX=0.00194018;gnomADv4_1_AF_joint_XY=0.00159839;gnomADv4_1_AN_grpmax_joint=15290;gnomADv4_1_AN_joint=152278;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=3;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27604677 chr22_27604677_A_T A T 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=3.355;CADD_Rawscore=0.307594;CSQ=T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA|4/4||ENST00000827824.1:n.393A>T||393|||||rs11704028||1||||||||||||Ensembl||A|A||||chr22:g.27604677A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15678;gnomADv4_1_AC_joint_XX=8242;gnomADv4_1_AC_joint_XY=7436;gnomADv4_1_AF_grpmax_joint=0.154059;gnomADv4_1_AF_joint=0.10307;gnomADv4_1_AF_joint_XX=0.105985;gnomADv4_1_AF_joint_XY=0.100022;gnomADv4_1_AN_grpmax_joint=68000;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1077;gnomADv4_1_nhomalt_joint_XX=571;gnomADv4_1_nhomalt_joint_XY=506;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27605264 chr22_27605264_C_CA C CA 22 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=22;CADDIndel_PHREDscore=1.374;CADDIndel_Rawscore=0.065136;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs66951798|382|1||||||||||||Ensembl|||||||chr22:g.27605281dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15015;gnomADv4_1_AC_joint_XX=8258;gnomADv4_1_AC_joint_XY=6757;gnomADv4_1_AF_grpmax_joint=0.22826;gnomADv4_1_AF_joint=0.181148;gnomADv4_1_AF_joint_XX=0.186681;gnomADv4_1_AF_joint_XY=0.174816;gnomADv4_1_AN_grpmax_joint=41330;gnomADv4_1_AN_joint=82888;gnomADv4_1_AN_joint_XX=44236;gnomADv4_1_AN_joint_XY=38652;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1095;gnomADv4_1_nhomalt_joint_XX=639;gnomADv4_1_nhomalt_joint_XY=456;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27606490 chr22_27606490_G_C G C 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.206;CADD_Rawscore=-0.419047;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs1807613|1608|1||||||||||||Ensembl||G|G||||chr22:g.27606490G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38900;gnomADv4_1_AC_joint_XX=19944;gnomADv4_1_AC_joint_XY=18956;gnomADv4_1_AF_grpmax_joint=0.344979;gnomADv4_1_AF_joint=0.256289;gnomADv4_1_AF_joint_XX=0.257004;gnomADv4_1_AF_joint_XY=0.255541;gnomADv4_1_AN_grpmax_joint=41330;gnomADv4_1_AN_joint=151782;gnomADv4_1_AN_joint_XX=77602;gnomADv4_1_AN_joint_XY=74180;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5362;gnomADv4_1_nhomalt_joint_XX=2772;gnomADv4_1_nhomalt_joint_XY=2590;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27606491 chr22_27606491_G_A G A 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.478;CADD_Rawscore=0.084152;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs1807612|1609|1||||||||||||Ensembl||G|G||||chr22:g.27606491G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38816;gnomADv4_1_AC_joint_XX=19896;gnomADv4_1_AC_joint_XY=18920;gnomADv4_1_AF_grpmax_joint=0.344359;gnomADv4_1_AF_joint=0.255813;gnomADv4_1_AF_joint_XX=0.256491;gnomADv4_1_AF_joint_XY=0.255103;gnomADv4_1_AN_grpmax_joint=41326;gnomADv4_1_AN_joint=151736;gnomADv4_1_AN_joint_XX=77570;gnomADv4_1_AN_joint_XY=74166;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5331;gnomADv4_1_nhomalt_joint_XX=2755;gnomADv4_1_nhomalt_joint_XY=2576;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27606694 chr22_27606694_C_CA C CA 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.445;CADDIndel_Rawscore=-0.222098;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs67865435|1812|1||||||||||||Ensembl|||||||chr22:g.27606703dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=29928;gnomADv4_1_AC_joint_XX=15160;gnomADv4_1_AC_joint_XY=14768;gnomADv4_1_AF_grpmax_joint=0.335622;gnomADv4_1_AF_joint=0.199249;gnomADv4_1_AF_joint_XX=0.19716;gnomADv4_1_AF_joint_XY=0.20144;gnomADv4_1_AN_grpmax_joint=5098;gnomADv4_1_AN_joint=150204;gnomADv4_1_AN_joint_XX=76892;gnomADv4_1_AN_joint_XY=73312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3127;gnomADv4_1_nhomalt_joint_XX=1543;gnomADv4_1_nhomalt_joint_XY=1584;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27607305 chr22_27607305_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.328;CADD_Rawscore=-0.299493;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs738756|2423|1||||||||||||Ensembl||T|T||||chr22:g.27607305T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=126502;gnomADv4_1_AC_joint_XX=64908;gnomADv4_1_AC_joint_XY=61594;gnomADv4_1_AF_grpmax_joint=0.993048;gnomADv4_1_AF_joint=0.831266;gnomADv4_1_AF_joint_XX=0.834465;gnomADv4_1_AF_joint_XY=0.827921;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=52963;gnomADv4_1_nhomalt_joint_XX=27279;gnomADv4_1_nhomalt_joint_XY=25684;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27607460 chr22_27607460_A_AT A AT 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.898;CADDIndel_Rawscore=-0.045611;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs34194836|2578|1||||||||||||Ensembl|||||||chr22:g.27607465dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=20302;gnomADv4_1_AC_joint_XX=10487;gnomADv4_1_AC_joint_XY=9815;gnomADv4_1_AF_grpmax_joint=0.162912;gnomADv4_1_AF_joint=0.133396;gnomADv4_1_AF_joint_XX=0.134846;gnomADv4_1_AF_joint_XY=0.13188;gnomADv4_1_AN_grpmax_joint=68012;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1496;gnomADv4_1_nhomalt_joint_XX=794;gnomADv4_1_nhomalt_joint_XY=702;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27607844 chr22_27607844_ATGTG_A ATGTG A 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=1.23;CADDIndel_Rawscore=0.03605;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs35237433|2963|1||||||||||||Ensembl||TGTG|TGTG||||chr22:g.27607866_27607869del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=39062;gnomADv4_1_AC_joint_XX=20120;gnomADv4_1_AC_joint_XY=18942;gnomADv4_1_AF_grpmax_joint=0.308511;gnomADv4_1_AF_joint=0.270595;gnomADv4_1_AF_joint_XX=0.271137;gnomADv4_1_AF_joint_XY=0.270021;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=144356;gnomADv4_1_AN_joint_XX=74206;gnomADv4_1_AN_joint_XY=70150;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5298;gnomADv4_1_nhomalt_joint_XX=2737;gnomADv4_1_nhomalt_joint_XY=2561;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27607870 chr22_27607870_CTGTG_C;chr22_27607870_C_CTGTGTG;chr22_27607870_CTGTGTGTGTGTG_C CTGTG C 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.75;AF_XX=.;AF_XY=0.75;AN=4;AN_XX=0;AN_XY=4;AQ=44;CADDIndel_PHREDscore=1.173;CADDIndel_Rawscore=0.023567;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs60198483|2989|1||||||||||||Ensembl||TGTG|TGTG||||chr22:g.27607899_27607902del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=29404;gnomADv4_1_AC_joint_XX=15122;gnomADv4_1_AC_joint_XY=14282;gnomADv4_1_AF_grpmax_joint=0.359797;gnomADv4_1_AF_joint=0.206439;gnomADv4_1_AF_joint_XX=0.205792;gnomADv4_1_AF_joint_XY=0.20713;gnomADv4_1_AN_grpmax_joint=4736;gnomADv4_1_AN_joint=142434;gnomADv4_1_AN_joint_XX=73482;gnomADv4_1_AN_joint_XY=68952;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3060;gnomADv4_1_nhomalt_joint_XX=1534;gnomADv4_1_nhomalt_joint_XY=1526;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27607870 chr22_27607870_CTGTG_C;chr22_27607870_C_CTGTGTG;chr22_27607870_CTGTGTGTGTGTG_C C CTGTGTG 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=36;CADDIndel_PHREDscore=1.141;CADDIndel_Rawscore=0.016357;CSQ=TGTGTG|downstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs60198483|2988|1||||||||||||Ensembl|||||||chr22:g.27607897_27607902dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGTGTG;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=14113;gnomADv4_1_AC_joint_XX=7559;gnomADv4_1_AC_joint_XY=6554;gnomADv4_1_AF_grpmax_joint=0.145571;gnomADv4_1_AF_joint=0.0992252;gnomADv4_1_AF_joint_XX=0.102961;gnomADv4_1_AF_joint_XY=0.0952395;gnomADv4_1_AN_grpmax_joint=65638;gnomADv4_1_AN_joint=142232;gnomADv4_1_AN_joint_XX=73416;gnomADv4_1_AN_joint_XY=68816;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=904;gnomADv4_1_nhomalt_joint_XX=501;gnomADv4_1_nhomalt_joint_XY=403;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27607870 chr22_27607870_CTGTG_C;chr22_27607870_C_CTGTGTG;chr22_27607870_CTGTGTGTGTGTG_C CTGTGTGTGTGTG C 44 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=13;CADDIndel_PHREDscore=1.134;CADDIndel_Rawscore=0.014807;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs60198483|2989|1||||||||||||Ensembl||TGTGTGTGTGTG|TGTGTGTGTGTG||||chr22:g.27607891_27607902del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37040;gnomADv4_1_AC_joint_XX=19203;gnomADv4_1_AC_joint_XY=17837;gnomADv4_1_AF_grpmax_joint=0.304965;gnomADv4_1_AF_joint=0.259475;gnomADv4_1_AF_joint_XX=0.260797;gnomADv4_1_AF_joint_XY=0.258066;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=142750;gnomADv4_1_AN_joint_XX=73632;gnomADv4_1_AN_joint_XY=69118;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4695;gnomADv4_1_nhomalt_joint_XX=2460;gnomADv4_1_nhomalt_joint_XY=2235;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27608045 chr22_27608045_CTG_C;chr22_27608045_C_CTG CTG C 28 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=28;CADDIndel_PHREDscore=2.536;CADDIndel_Rawscore=0.227564;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs10670217|3164|1||||||||||||Ensembl||TG|TG||||chr22:g.27608073_27608074del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=31312;gnomADv4_1_AC_joint_XX=16128;gnomADv4_1_AC_joint_XY=15184;gnomADv4_1_AF_grpmax_joint=0.259216;gnomADv4_1_AF_joint=0.247871;gnomADv4_1_AF_joint_XX=0.245524;gnomADv4_1_AF_joint_XY=0.250412;gnomADv4_1_AN_grpmax_joint=12912;gnomADv4_1_AN_joint=126324;gnomADv4_1_AN_joint_XX=65688;gnomADv4_1_AN_joint_XY=60636;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=3044;gnomADv4_1_nhomalt_joint_XX=1508;gnomADv4_1_nhomalt_joint_XY=1536;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27608045 chr22_27608045_CTG_C;chr22_27608045_C_CTG C CTG 28 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=28;CADDIndel_PHREDscore=2.799;CADDIndel_Rawscore=0.254785;CSQ=TG|downstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs10670217|3163|1||||||||||||Ensembl|||||||chr22:g.27608073_27608074dup|||||||||||||;TYPE=INDEL;VEP_Allele=TG;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46449;gnomADv4_1_AC_joint_XX=24299;gnomADv4_1_AC_joint_XY=22150;gnomADv4_1_AF_grpmax_joint=0.519872;gnomADv4_1_AF_joint=0.367558;gnomADv4_1_AF_joint_XX=0.369735;gnomADv4_1_AF_joint_XY=0.365198;gnomADv4_1_AN_grpmax_joint=4076;gnomADv4_1_AN_joint=126372;gnomADv4_1_AN_joint_XX=65720;gnomADv4_1_AN_joint_XY=60652;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7588;gnomADv4_1_nhomalt_joint_XX=3982;gnomADv4_1_nhomalt_joint_XY=3606;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27608533 chr22_27608533_G_A G A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=8.11;CADD_Rawscore=0.78089;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs9613480|3651|1||||||||||||Ensembl||G|G||||chr22:g.27608533G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=17255;gnomADv4_1_AC_joint_XX=8910;gnomADv4_1_AC_joint_XY=8345;gnomADv4_1_AF_grpmax_joint=0.162762;gnomADv4_1_AF_joint=0.113545;gnomADv4_1_AF_joint_XX=0.114663;gnomADv4_1_AF_joint_XY=0.112375;gnomADv4_1_AN_grpmax_joint=67952;gnomADv4_1_AN_joint=151966;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1300;gnomADv4_1_nhomalt_joint_XX=687;gnomADv4_1_nhomalt_joint_XY=613;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27609534 chr22_27609534_T_C T C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=11.55;CADD_Rawscore=1.11998;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs9613483|4652|1||||||||||||Ensembl||T|T||||chr22:g.27609534T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=51128;gnomADv4_1_AC_joint_XX=25754;gnomADv4_1_AC_joint_XY=25374;gnomADv4_1_AF_grpmax_joint=0.617901;gnomADv4_1_AF_joint=0.336758;gnomADv4_1_AF_joint_XX=0.331753;gnomADv4_1_AF_joint_XY=0.341995;gnomADv4_1_AN_grpmax_joint=5106;gnomADv4_1_AN_joint=151824;gnomADv4_1_AN_joint_XX=77630;gnomADv4_1_AN_joint_XY=74194;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9818;gnomADv4_1_nhomalt_joint_XX=4944;gnomADv4_1_nhomalt_joint_XY=4874;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27609566 chr22_27609566_ACCCCCTCCTC_A ACCCCCTCCTC A 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=7.846;CADDIndel_Rawscore=0.751665;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000307679|Transcript|ENST00000827824|lncRNA||||||||||rs57923484|4685|1||||||||||||Ensembl||CCCCCTCCTC|CCCCCTCCTC||||chr22:g.27609567_27609576del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000827824;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000307679;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=59623;gnomADv4_1_AC_joint_XX=30174;gnomADv4_1_AC_joint_XY=29449;gnomADv4_1_AF_grpmax_joint=0.791584;gnomADv4_1_AF_joint=0.394891;gnomADv4_1_AF_joint_XX=0.390551;gnomADv4_1_AF_joint_XY=0.399438;gnomADv4_1_AN_grpmax_joint=5038;gnomADv4_1_AN_joint=150986;gnomADv4_1_AN_joint_XX=77260;gnomADv4_1_AN_joint_XY=73726;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14810;gnomADv4_1_nhomalt_joint_XX=7548;gnomADv4_1_nhomalt_joint_XY=7262;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27610689 chr22_27610689_TATAATAATAATAATA_T;chr22_27610689_TATAATA_T TATAATAATAATAATA T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=2.277;CADDIndel_Rawscore=0.19844;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs200278519|||||||||||||||||||||chr22:g.27610718_27610732del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=14303;gnomADv4_1_AC_joint_XX=7012;gnomADv4_1_AC_joint_XY=7291;gnomADv4_1_AF_grpmax_joint=0.411593;gnomADv4_1_AF_joint=0.104298;gnomADv4_1_AF_joint_XX=0.0983892;gnomADv4_1_AF_joint_XY=0.110691;gnomADv4_1_AN_grpmax_joint=4796;gnomADv4_1_AN_joint=137136;gnomADv4_1_AN_joint_XX=71268;gnomADv4_1_AN_joint_XY=65868;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1353;gnomADv4_1_nhomalt_joint_XX=647;gnomADv4_1_nhomalt_joint_XY=706;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27610689 chr22_27610689_TATAATAATAATAATA_T;chr22_27610689_TATAATA_T TATAATA T 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=2.303;CADDIndel_Rawscore=0.201517;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs200278519|||||||||||||||||||||chr22:g.27610727_27610732del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=30342;gnomADv4_1_AC_joint_XX=16019;gnomADv4_1_AC_joint_XY=14323;gnomADv4_1_AF_grpmax_joint=0.311705;gnomADv4_1_AF_joint=0.221445;gnomADv4_1_AF_joint_XX=0.224954;gnomADv4_1_AF_joint_XY=0.217648;gnomADv4_1_AN_grpmax_joint=38052;gnomADv4_1_AN_joint=137018;gnomADv4_1_AN_joint_XX=71210;gnomADv4_1_AN_joint_XY=65808;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3577;gnomADv4_1_nhomalt_joint_XX=1855;gnomADv4_1_nhomalt_joint_XY=1722;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27610936 chr22_27610936_GAGGAAGGAAGGA_G;chr22_27610936_G_GAGGA GAGGAAGGAAGGA G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=35;CADDIndel_PHREDscore=1.946;CADDIndel_Rawscore=0.156712;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs769708506|||||||||||||||||||||chr22:g.27610978_27610989del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=3200;gnomADv4_1_AC_joint_XX=1781;gnomADv4_1_AC_joint_XY=1419;gnomADv4_1_AF_grpmax_joint=0.114458;gnomADv4_1_AF_joint=0.0437374;gnomADv4_1_AF_joint_XX=0.0455895;gnomADv4_1_AF_joint_XY=0.0416153;gnomADv4_1_AN_grpmax_joint=166;gnomADv4_1_AN_joint=73164;gnomADv4_1_AN_joint_XX=39066;gnomADv4_1_AN_joint_XY=34098;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=69;gnomADv4_1_nhomalt_joint_XX=35;gnomADv4_1_nhomalt_joint_XY=34;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27610936 chr22_27610936_GAGGAAGGAAGGA_G;chr22_27610936_G_GAGGA G GAGGA 35 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=18;CADDIndel_PHREDscore=1.089;CADDIndel_Rawscore=0.004309;CSQ=AGGA|intergenic_variant|MODIFIER|||||||||||||||rs769708506|||||||||||||||||||||chr22:g.27610986_27610989dup|||||||||||||;TYPE=INDEL;VEP_Allele=AGGA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=7715;gnomADv4_1_AC_joint_XX=4259;gnomADv4_1_AC_joint_XY=3456;gnomADv4_1_AF_grpmax_joint=0.1625;gnomADv4_1_AF_joint=0.106578;gnomADv4_1_AF_joint_XX=0.110166;gnomADv4_1_AF_joint_XY=0.102467;gnomADv4_1_AN_grpmax_joint=160;gnomADv4_1_AN_joint=72388;gnomADv4_1_AN_joint_XX=38660;gnomADv4_1_AN_joint_XY=33728;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=484;gnomADv4_1_nhomalt_joint_XX=266;gnomADv4_1_nhomalt_joint_XY=218;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27611220 chr22_27611220_C_CGAGATTAACCCGTCCCGCACTGCGTCTCACGCGAGATTAACCCGTCCCGCACTGCGTCTCACCT C CGAGATTAACCCGTCCCGCACTGCGTCTCACGCGAGATTAACCCGTCCCGCACTGCGTCTCACCT 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=12;CSQ=GAGATTAACCCGTCCCGCACTGCGTCTCACGCGAGATTAACCCGTCCCGCACTGCGTCTCACCT|intergenic_variant|MODIFIER|||||||||||||||rs1569112685|||||||||||||||||||||chr22:g.27611271_27611272insCTGCGTCTCACCTGAGATTAACCCGTCCCGCACTGCGTCTCACGCGAGATTAACCCGTCCCGCA|||||||||||||;TYPE=INDEL;VEP_Allele=GAGATTAACCCGTCCCGCACTGCGTCTCACGCGAGATTAACCCGTCCCGCACTGCGTCTCACCT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=1476;gnomADv4_1_AC_joint_XX=730;gnomADv4_1_AC_joint_XY=746;gnomADv4_1_AF_grpmax_joint=0.0210175;gnomADv4_1_AF_joint=0.0125589;gnomADv4_1_AF_joint_XX=0.0121408;gnomADv4_1_AF_joint_XY=0.012997;gnomADv4_1_AN_grpmax_joint=22172;gnomADv4_1_AN_joint=117526;gnomADv4_1_AN_joint_XX=60128;gnomADv4_1_AN_joint_XY=57398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5;gnomADv4_1_nhomalt_joint_XX=4;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27611309 chr22_27611309_T_A T A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=4.409;CADD_Rawscore=0.401743;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs11912836|||||||||||||||||||||chr22:g.27611309T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=20783;gnomADv4_1_AC_joint_XX=10314;gnomADv4_1_AC_joint_XY=10469;gnomADv4_1_AF_grpmax_joint=0.389671;gnomADv4_1_AF_joint=0.143807;gnomADv4_1_AF_joint_XX=0.139703;gnomADv4_1_AF_joint_XY=0.148093;gnomADv4_1_AN_grpmax_joint=4686;gnomADv4_1_AN_joint=144520;gnomADv4_1_AN_joint_XX=73828;gnomADv4_1_AN_joint_XY=70692;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2347;gnomADv4_1_nhomalt_joint_XX=1149;gnomADv4_1_nhomalt_joint_XY=1198;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27611780 chr22_27611780_T_C T C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.203;CADD_Rawscore=-0.423193;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs6005524|||||||||||||||||||||chr22:g.27611780T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=80445;gnomADv4_1_AC_joint_XX=41310;gnomADv4_1_AC_joint_XY=39135;gnomADv4_1_AF_grpmax_joint=0.791554;gnomADv4_1_AF_joint=0.528951;gnomADv4_1_AF_joint_XX=0.531305;gnomADv4_1_AF_joint_XY=0.526489;gnomADv4_1_AN_grpmax_joint=41512;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23653;gnomADv4_1_nhomalt_joint_XX=12187;gnomADv4_1_nhomalt_joint_XY=11466;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27612144 chr22_27612144_T_C T C 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=38;CADD_PHREDscore=11.65;CADD_Rawscore=1.13126;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4365562|||||||||||||||||||||chr22:g.27612144T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=25229;gnomADv4_1_AC_joint_XX=12611;gnomADv4_1_AC_joint_XY=12618;gnomADv4_1_AF_grpmax_joint=0.415794;gnomADv4_1_AF_joint=0.165897;gnomADv4_1_AF_joint_XX=0.162216;gnomADv4_1_AF_joint_XY=0.169747;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2884;gnomADv4_1_nhomalt_joint_XX=1424;gnomADv4_1_nhomalt_joint_XY=1460;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27612897 chr22_27612897_A_G A G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.584;CADD_Rawscore=0.232747;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs73162322|||||||||||||||||||||chr22:g.27612897A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=25186;gnomADv4_1_AC_joint_XX=12587;gnomADv4_1_AC_joint_XY=12599;gnomADv4_1_AF_grpmax_joint=0.415211;gnomADv4_1_AF_joint=0.165601;gnomADv4_1_AF_joint_XX=0.161891;gnomADv4_1_AF_joint_XY=0.169483;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2867;gnomADv4_1_nhomalt_joint_XX=1421;gnomADv4_1_nhomalt_joint_XY=1446;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27613043 chr22_27613043_G_T G T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.927;CADD_Rawscore=0.154065;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs7286201|||||||||||||||||||||chr22:g.27613043G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=80381;gnomADv4_1_AC_joint_XX=41273;gnomADv4_1_AC_joint_XY=39108;gnomADv4_1_AF_grpmax_joint=0.790929;gnomADv4_1_AF_joint=0.528648;gnomADv4_1_AF_joint_XX=0.530993;gnomADv4_1_AF_joint_XY=0.526197;gnomADv4_1_AN_grpmax_joint=41474;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23610;gnomADv4_1_nhomalt_joint_XX=12161;gnomADv4_1_nhomalt_joint_XY=11449;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27614236 chr22_27614236_CG_C CG C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=37;CADDIndel_PHREDscore=1.834;CADDIndel_Rawscore=0.141002;CSQ=-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DXX8|enhancer||||||||||rs139119144|||||||||||||||||||||chr22:g.27614245del|||||||||||||,-|intergenic_variant|MODIFIER|||||||||||||||rs139119144|||||||||||||||||||||chr22:g.27614245del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENSR22_9DXX8,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=86969;gnomADv4_1_AC_joint_XX=44510;gnomADv4_1_AC_joint_XY=42459;gnomADv4_1_AF_grpmax_joint=0.824317;gnomADv4_1_AF_joint=0.732815;gnomADv4_1_AF_joint_XX=0.727763;gnomADv4_1_AF_joint_XY=0.738186;gnomADv4_1_AN_grpmax_joint=3586;gnomADv4_1_AN_joint=118678;gnomADv4_1_AN_joint_XX=61160;gnomADv4_1_AN_joint_XY=57518;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=29532;gnomADv4_1_nhomalt_joint_XX=14995;gnomADv4_1_nhomalt_joint_XY=14537;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27614987 chr22_27614987_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.296;CADD_Rawscore=-0.325281;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs78777415|||||||||||||||||||||chr22:g.27614987A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=144746;gnomADv4_1_AC_joint_XX=73943;gnomADv4_1_AC_joint_XY=70803;gnomADv4_1_AF_grpmax_joint=0.999015;gnomADv4_1_AF_joint=0.950625;gnomADv4_1_AF_joint_XX=0.950229;gnomADv4_1_AF_joint_XY=0.95104;gnomADv4_1_AN_grpmax_joint=68030;gnomADv4_1_AN_joint=152264;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=69165;gnomADv4_1_nhomalt_joint_XX=35327;gnomADv4_1_nhomalt_joint_XY=33838;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27615106 chr22_27615106_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.322;CADD_Rawscore=0.203725;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs1885359|||||||||||||||||||||chr22:g.27615106A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=90471;gnomADv4_1_AC_joint_XX=46096;gnomADv4_1_AC_joint_XY=44375;gnomADv4_1_AF_grpmax_joint=0.728821;gnomADv4_1_AF_joint=0.595157;gnomADv4_1_AF_joint_XX=0.593226;gnomADv4_1_AF_joint_XY=0.597177;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28777;gnomADv4_1_nhomalt_joint_XX=14593;gnomADv4_1_nhomalt_joint_XY=14184;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27615325 chr22_27615325_C_A C A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.873;CADD_Rawscore=-0.052738;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs12158861|||||||||||||||||||||chr22:g.27615325C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=144455;gnomADv4_1_AC_joint_XX=73799;gnomADv4_1_AC_joint_XY=70656;gnomADv4_1_AF_grpmax_joint=0.999015;gnomADv4_1_AF_joint=0.948751;gnomADv4_1_AF_joint_XX=0.948305;gnomADv4_1_AF_joint_XY=0.949218;gnomADv4_1_AN_grpmax_joint=68034;gnomADv4_1_AN_joint=152258;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=68905;gnomADv4_1_nhomalt_joint_XX=35190;gnomADv4_1_nhomalt_joint_XY=33715;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27615419 chr22_27615419_G_C G C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.662;CADD_Rawscore=-0.123058;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs12158772|||||||||||||||||||||chr22:g.27615419G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=145140;gnomADv4_1_AC_joint_XX=74126;gnomADv4_1_AC_joint_XY=71014;gnomADv4_1_AF_grpmax_joint=0.99903;gnomADv4_1_AF_joint=0.953063;gnomADv4_1_AF_joint_XX=0.952629;gnomADv4_1_AF_joint_XY=0.953515;gnomADv4_1_AN_grpmax_joint=68038;gnomADv4_1_AN_joint=152288;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=69484;gnomADv4_1_nhomalt_joint_XX=35477;gnomADv4_1_nhomalt_joint_XY=34007;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27615504 chr22_27615504_T_C T C 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.21;CADD_Rawscore=0.190551;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs12159548|||||||||||||||||||||chr22:g.27615504T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=139353;gnomADv4_1_AC_joint_XX=71052;gnomADv4_1_AC_joint_XY=68301;gnomADv4_1_AF_grpmax_joint=0.99756;gnomADv4_1_AF_joint=0.915375;gnomADv4_1_AF_joint_XX=0.913641;gnomADv4_1_AF_joint_XY=0.917186;gnomADv4_1_AN_grpmax_joint=68042;gnomADv4_1_AN_joint=152236;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=64800;gnomADv4_1_nhomalt_joint_XX=32998;gnomADv4_1_nhomalt_joint_XY=31802;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27615523 chr22_27615523_G_T G T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.99;CADD_Rawscore=0.162569;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762273|||||||||||||||||||||chr22:g.27615523G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26509;gnomADv4_1_AC_joint_XX=13279;gnomADv4_1_AC_joint_XY=13230;gnomADv4_1_AF_grpmax_joint=0.413196;gnomADv4_1_AF_joint=0.174289;gnomADv4_1_AF_joint_XX=0.170831;gnomADv4_1_AF_joint_XY=0.177904;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3298;gnomADv4_1_nhomalt_joint_XX=1634;gnomADv4_1_nhomalt_joint_XY=1664;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27615734 chr22_27615734_T_C T C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=4.393;CADD_Rawscore=0.400229;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762274|||||||||||||||||||||chr22:g.27615734T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=72331;gnomADv4_1_AC_joint_XX=36921;gnomADv4_1_AC_joint_XY=35410;gnomADv4_1_AF_grpmax_joint=0.615672;gnomADv4_1_AF_joint=0.475655;gnomADv4_1_AF_joint_XX=0.474966;gnomADv4_1_AF_joint_XY=0.476376;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=18238;gnomADv4_1_nhomalt_joint_XX=9273;gnomADv4_1_nhomalt_joint_XY=8965;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27616050 chr22_27616050_G_T G T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.097;CADD_Rawscore=-0.619314;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762275|||||||||||||||||||||chr22:g.27616050G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70989;gnomADv4_1_AC_joint_XX=36226;gnomADv4_1_AC_joint_XY=34763;gnomADv4_1_AF_grpmax_joint=0.614119;gnomADv4_1_AF_joint=0.466855;gnomADv4_1_AF_joint_XX=0.466013;gnomADv4_1_AF_joint_XY=0.467735;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=17720;gnomADv4_1_nhomalt_joint_XX=9001;gnomADv4_1_nhomalt_joint_XY=8719;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27616299 chr22_27616299_A_G A G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=9.699;CADD_Rawscore=0.943972;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs7287487|||||||||||||||||||||chr22:g.27616299A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26404;gnomADv4_1_AC_joint_XX=13255;gnomADv4_1_AC_joint_XY=13149;gnomADv4_1_AF_grpmax_joint=0.412202;gnomADv4_1_AF_joint=0.174162;gnomADv4_1_AF_joint_XX=0.170975;gnomADv4_1_AF_joint_XY=0.177497;gnomADv4_1_AN_grpmax_joint=5114;gnomADv4_1_AN_joint=151606;gnomADv4_1_AN_joint_XX=77526;gnomADv4_1_AN_joint_XY=74080;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3277;gnomADv4_1_nhomalt_joint_XX=1635;gnomADv4_1_nhomalt_joint_XY=1642;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27616872 chr22_27616872_GTTT_G GTTT G 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=51;CADDIndel_PHREDscore=0.76;CADDIndel_Rawscore=-0.088149;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs3044350|||||||||||||||||||||chr22:g.27616888_27616890del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=108838;gnomADv4_1_AC_joint_XX=56260;gnomADv4_1_AC_joint_XY=52578;gnomADv4_1_AF_grpmax_joint=0.838932;gnomADv4_1_AF_joint=0.753454;gnomADv4_1_AF_joint_XX=0.753974;gnomADv4_1_AF_joint_XY=0.7529;gnomADv4_1_AN_grpmax_joint=66084;gnomADv4_1_AN_joint=144452;gnomADv4_1_AN_joint_XX=74618;gnomADv4_1_AN_joint_XY=69834;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=41698;gnomADv4_1_nhomalt_joint_XX=21591;gnomADv4_1_nhomalt_joint_XY=20107;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27617110 chr22_27617110_C_G C G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.596;CADD_Rawscore=-0.149223;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs12160605|||||||||||||||||||||chr22:g.27617110C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=143788;gnomADv4_1_AC_joint_XX=73431;gnomADv4_1_AC_joint_XY=70357;gnomADv4_1_AF_grpmax_joint=0.997928;gnomADv4_1_AF_joint=0.944172;gnomADv4_1_AF_joint_XX=0.943552;gnomADv4_1_AF_joint_XY=0.94482;gnomADv4_1_AN_grpmax_joint=68044;gnomADv4_1_AN_joint=152290;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74466;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=68301;gnomADv4_1_nhomalt_joint_XX=34862;gnomADv4_1_nhomalt_joint_XY=33439;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27617487 chr22_27617487_C_T C T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.489;CADD_Rawscore=0.086104;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs743254|||||||||||||||||||||chr22:g.27617487C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=93966;gnomADv4_1_AC_joint_XX=48227;gnomADv4_1_AC_joint_XY=45739;gnomADv4_1_AF_grpmax_joint=0.762583;gnomADv4_1_AF_joint=0.61771;gnomADv4_1_AF_joint_XX=0.620283;gnomADv4_1_AF_joint_XY=0.615019;gnomADv4_1_AN_grpmax_joint=67990;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=31663;gnomADv4_1_nhomalt_joint_XX=16300;gnomADv4_1_nhomalt_joint_XY=15363;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27617922 chr22_27617922_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=3.692;CADD_Rawscore=0.337894;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs2010950|||||||||||||||||||||chr22:g.27617922T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=56977;gnomADv4_1_AC_joint_XX=29172;gnomADv4_1_AC_joint_XY=27805;gnomADv4_1_AF_grpmax_joint=0.664926;gnomADv4_1_AF_joint=0.385292;gnomADv4_1_AF_joint_XX=0.384317;gnomADv4_1_AF_joint_XY=0.38632;gnomADv4_1_AN_grpmax_joint=39824;gnomADv4_1_AN_joint=147880;gnomADv4_1_AN_joint_XX=75906;gnomADv4_1_AN_joint_XY=71974;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=13764;gnomADv4_1_nhomalt_joint_XX=7037;gnomADv4_1_nhomalt_joint_XY=6727;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27617956 chr22_27617956_CTTTTTT_C CTTTTTT C 15 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=15;CADDIndel_PHREDscore=2.136;CADDIndel_Rawscore=0.181389;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs5844775|||||||||||||||||||||chr22:g.27617982_27617987del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=6835;gnomADv4_1_AC_joint_XX=3736;gnomADv4_1_AC_joint_XY=3099;gnomADv4_1_AF_grpmax_joint=0.219539;gnomADv4_1_AF_joint=0.101223;gnomADv4_1_AF_joint_XX=0.100657;gnomADv4_1_AF_joint_XY=0.101914;gnomADv4_1_AN_grpmax_joint=1822;gnomADv4_1_AN_joint=67524;gnomADv4_1_AN_joint_XX=37116;gnomADv4_1_AN_joint_XY=30408;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=59;gnomADv4_1_nhomalt_joint_XX=32;gnomADv4_1_nhomalt_joint_XY=27;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27618293 chr22_27618293_T_C T C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=3.572;CADD_Rawscore=0.327209;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs9613489|||||||||||||||||||||chr22:g.27618293T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=110065;gnomADv4_1_AC_joint_XX=55681;gnomADv4_1_AC_joint_XY=54384;gnomADv4_1_AF_grpmax_joint=0.972438;gnomADv4_1_AF_joint=0.723893;gnomADv4_1_AF_joint_XX=0.716154;gnomADv4_1_AF_joint_XY=0.731991;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=40628;gnomADv4_1_nhomalt_joint_XX=20354;gnomADv4_1_nhomalt_joint_XY=20274;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27619167 chr22_27619167_C_T C T 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.051;CADD_Rawscore=-0.796321;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs35413832|||||||||||||||||||||chr22:g.27619167C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=39773;gnomADv4_1_AC_joint_XX=20926;gnomADv4_1_AC_joint_XY=18847;gnomADv4_1_AF_grpmax_joint=0.359192;gnomADv4_1_AF_joint=0.261482;gnomADv4_1_AF_joint_XX=0.269179;gnomADv4_1_AF_joint_XY=0.253436;gnomADv4_1_AN_grpmax_joint=67972;gnomADv4_1_AN_joint=152106;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6219;gnomADv4_1_nhomalt_joint_XX=3362;gnomADv4_1_nhomalt_joint_XY=2857;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27619184 chr22_27619184_C_T C T 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.899;CADD_Rawscore=-0.045329;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs35819389|||||||||||||||||||||chr22:g.27619184C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=39756;gnomADv4_1_AC_joint_XX=20925;gnomADv4_1_AC_joint_XY=18831;gnomADv4_1_AF_grpmax_joint=0.359239;gnomADv4_1_AF_joint=0.261401;gnomADv4_1_AF_joint_XX=0.269173;gnomADv4_1_AF_joint_XY=0.253275;gnomADv4_1_AN_grpmax_joint=67952;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6210;gnomADv4_1_nhomalt_joint_XX=3361;gnomADv4_1_nhomalt_joint_XY=2849;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27619364 chr22_27619364_C_A C A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.137;CADD_Rawscore=-0.526251;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs732110|||||||||||||||||||||chr22:g.27619364C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=124392;gnomADv4_1_AC_joint_XX=63809;gnomADv4_1_AC_joint_XY=60583;gnomADv4_1_AF_grpmax_joint=0.916194;gnomADv4_1_AF_joint=0.817777;gnomADv4_1_AF_joint_XX=0.820863;gnomADv4_1_AF_joint_XY=0.81455;gnomADv4_1_AN_grpmax_joint=68014;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=52034;gnomADv4_1_nhomalt_joint_XX=26802;gnomADv4_1_nhomalt_joint_XY=25232;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27619529 chr22_27619529_A_G A G 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=7.486;CADD_Rawscore=0.711488;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5997278|||||||||||||||||||||chr22:g.27619529A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46977;gnomADv4_1_AC_joint_XX=24423;gnomADv4_1_AC_joint_XY=22554;gnomADv4_1_AF_grpmax_joint=0.412468;gnomADv4_1_AF_joint=0.308856;gnomADv4_1_AF_joint_XX=0.314025;gnomADv4_1_AF_joint_XY=0.303447;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8482;gnomADv4_1_nhomalt_joint_XX=4509;gnomADv4_1_nhomalt_joint_XY=3973;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27619574 chr22_27619574_CAAAT_C CAAAT C 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=5.67;CADDIndel_Rawscore=0.520198;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs58341079|||||||||||||||||||||chr22:g.27619575_27619578del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=25810;gnomADv4_1_AC_joint_XX=13315;gnomADv4_1_AC_joint_XY=12495;gnomADv4_1_AF_grpmax_joint=0.206805;gnomADv4_1_AF_joint=0.169865;gnomADv4_1_AF_joint_XX=0.171461;gnomADv4_1_AF_joint_XY=0.168197;gnomADv4_1_AN_grpmax_joint=67924;gnomADv4_1_AN_joint=151944;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2425;gnomADv4_1_nhomalt_joint_XX=1247;gnomADv4_1_nhomalt_joint_XY=1178;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27619753 chr22_27619753_C_G C G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.314;CADD_Rawscore=-0.310255;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs34162169|||||||||||||||||||||chr22:g.27619753C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46995;gnomADv4_1_AC_joint_XX=24408;gnomADv4_1_AC_joint_XY=22587;gnomADv4_1_AF_grpmax_joint=0.412679;gnomADv4_1_AF_joint=0.309251;gnomADv4_1_AF_joint_XX=0.314164;gnomADv4_1_AF_joint_XY=0.304112;gnomADv4_1_AN_grpmax_joint=67922;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8494;gnomADv4_1_nhomalt_joint_XX=4502;gnomADv4_1_nhomalt_joint_XY=3992;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27619782 chr22_27619782_G_A G A 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.259;CADD_Rawscore=-0.359504;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs35016091|||||||||||||||||||||chr22:g.27619782G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46997;gnomADv4_1_AC_joint_XX=24407;gnomADv4_1_AC_joint_XY=22590;gnomADv4_1_AF_grpmax_joint=0.412473;gnomADv4_1_AF_joint=0.309089;gnomADv4_1_AF_joint_XX=0.314086;gnomADv4_1_AF_joint_XY=0.303866;gnomADv4_1_AN_grpmax_joint=67922;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8495;gnomADv4_1_nhomalt_joint_XX=4507;gnomADv4_1_nhomalt_joint_XY=3988;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27619885 chr22_27619885_A_G A G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=6.964;CADD_Rawscore=0.654137;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs34441039|||||||||||||||||||||chr22:g.27619885A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46936;gnomADv4_1_AC_joint_XX=24401;gnomADv4_1_AC_joint_XY=22535;gnomADv4_1_AF_grpmax_joint=0.41225;gnomADv4_1_AF_joint=0.308704;gnomADv4_1_AF_joint_XX=0.31396;gnomADv4_1_AF_joint_XY=0.303208;gnomADv4_1_AN_grpmax_joint=67920;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8469;gnomADv4_1_nhomalt_joint_XX=4503;gnomADv4_1_nhomalt_joint_XY=3966;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27619890 chr22_27619890_G_T G T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.217;CADD_Rawscore=0.033296;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs35418734|||||||||||||||||||||chr22:g.27619890G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46946;gnomADv4_1_AC_joint_XX=24412;gnomADv4_1_AC_joint_XY=22534;gnomADv4_1_AF_grpmax_joint=0.412292;gnomADv4_1_AF_joint=0.308876;gnomADv4_1_AF_joint_XX=0.314142;gnomADv4_1_AF_joint_XY=0.303366;gnomADv4_1_AN_grpmax_joint=67930;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8474;gnomADv4_1_nhomalt_joint_XX=4508;gnomADv4_1_nhomalt_joint_XY=3966;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27619953 chr22_27619953_C_A C A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.13;CADD_Rawscore=-0.541332;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs12160191|||||||||||||||||||||chr22:g.27619953C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46722;gnomADv4_1_AC_joint_XX=24329;gnomADv4_1_AC_joint_XY=22393;gnomADv4_1_AF_grpmax_joint=0.412132;gnomADv4_1_AF_joint=0.307535;gnomADv4_1_AF_joint_XX=0.313211;gnomADv4_1_AF_joint_XY=0.301597;gnomADv4_1_AN_grpmax_joint=67886;gnomADv4_1_AN_joint=151924;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8414;gnomADv4_1_nhomalt_joint_XX=4486;gnomADv4_1_nhomalt_joint_XY=3928;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27619962 chr22_27619962_G_A G A 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.032;CADD_Rawscore=-0.923934;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs34919397|||||||||||||||||||||chr22:g.27619962G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46710;gnomADv4_1_AC_joint_XX=24325;gnomADv4_1_AC_joint_XY=22385;gnomADv4_1_AF_grpmax_joint=0.41211;gnomADv4_1_AF_joint=0.307464;gnomADv4_1_AF_joint_XX=0.313144;gnomADv4_1_AF_joint_XY=0.301522;gnomADv4_1_AN_grpmax_joint=67880;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8412;gnomADv4_1_nhomalt_joint_XX=4485;gnomADv4_1_nhomalt_joint_XY=3927;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27620010 chr22_27620010_T_C T C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=3.632;CADD_Rawscore=0.332507;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs12157300|||||||||||||||||||||chr22:g.27620010T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46836;gnomADv4_1_AC_joint_XX=24375;gnomADv4_1_AC_joint_XY=22461;gnomADv4_1_AF_grpmax_joint=0.412736;gnomADv4_1_AF_joint=0.307978;gnomADv4_1_AF_joint_XX=0.313465;gnomADv4_1_AF_joint_XY=0.302236;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8471;gnomADv4_1_nhomalt_joint_XX=4505;gnomADv4_1_nhomalt_joint_XY=3966;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27620025 chr22_27620025_G_T G T 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.001;CADD_Rawscore=-2.7572;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs12159992|||||||||||||||||||||chr22:g.27620025G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46814;gnomADv4_1_AC_joint_XX=24368;gnomADv4_1_AC_joint_XY=22446;gnomADv4_1_AF_grpmax_joint=0.412628;gnomADv4_1_AF_joint=0.307845;gnomADv4_1_AF_joint_XX=0.313391;gnomADv4_1_AF_joint_XY=0.302043;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8461;gnomADv4_1_nhomalt_joint_XX=4501;gnomADv4_1_nhomalt_joint_XY=3960;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27620110 chr22_27620110_A_G A G 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.221;CADD_Rawscore=0.034261;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs12160358|||||||||||||||||||||chr22:g.27620110A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46896;gnomADv4_1_AC_joint_XX=24404;gnomADv4_1_AC_joint_XY=22492;gnomADv4_1_AF_grpmax_joint=0.412732;gnomADv4_1_AF_joint=0.308182;gnomADv4_1_AF_joint_XX=0.313708;gnomADv4_1_AF_joint_XY=0.302401;gnomADv4_1_AN_grpmax_joint=67986;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8479;gnomADv4_1_nhomalt_joint_XX=4506;gnomADv4_1_nhomalt_joint_XY=3973;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27620192 chr22_27620192_C_T C T 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=3.946;CADD_Rawscore=0.360439;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs12160285|||||||||||||||||||||chr22:g.27620192C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46813;gnomADv4_1_AC_joint_XX=24372;gnomADv4_1_AC_joint_XY=22441;gnomADv4_1_AF_grpmax_joint=0.41264;gnomADv4_1_AF_joint=0.307826;gnomADv4_1_AF_joint_XX=0.313458;gnomADv4_1_AF_joint_XY=0.301935;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8463;gnomADv4_1_nhomalt_joint_XX=4501;gnomADv4_1_nhomalt_joint_XY=3962;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27620225 chr22_27620225_TC_T TC T 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=1.49;CADDIndel_Rawscore=0.086327;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs34713398|||||||||||||||||||||chr22:g.27620227del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46778;gnomADv4_1_AC_joint_XX=24361;gnomADv4_1_AC_joint_XY=22417;gnomADv4_1_AF_grpmax_joint=0.412604;gnomADv4_1_AF_joint=0.307803;gnomADv4_1_AF_joint_XX=0.313446;gnomADv4_1_AF_joint_XY=0.301896;gnomADv4_1_AN_grpmax_joint=67932;gnomADv4_1_AN_joint=151974;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8439;gnomADv4_1_nhomalt_joint_XX=4493;gnomADv4_1_nhomalt_joint_XY=3946;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27620725 chr22_27620725_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.764;CADD_Rawscore=0.130721;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs11702931|||||||||||||||||||||chr22:g.27620725C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15700;gnomADv4_1_AC_joint_XX=8316;gnomADv4_1_AC_joint_XY=7384;gnomADv4_1_AF_grpmax_joint=0.152893;gnomADv4_1_AF_joint=0.103104;gnomADv4_1_AF_joint_XX=0.106859;gnomADv4_1_AF_joint_XY=0.099178;gnomADv4_1_AN_grpmax_joint=68002;gnomADv4_1_AN_joint=152274;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1109;gnomADv4_1_nhomalt_joint_XX=605;gnomADv4_1_nhomalt_joint_XY=504;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27620781 chr22_27620781_G_C G C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.278;CADD_Rawscore=0.046056;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs1885361|||||||||||||||||||||chr22:g.27620781G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=69317;gnomADv4_1_AC_joint_XX=36193;gnomADv4_1_AC_joint_XY=33124;gnomADv4_1_AF_grpmax_joint=0.506254;gnomADv4_1_AF_joint=0.456093;gnomADv4_1_AF_joint_XX=0.46572;gnomADv4_1_AF_joint_XY=0.446018;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=151980;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16362;gnomADv4_1_nhomalt_joint_XX=8699;gnomADv4_1_nhomalt_joint_XY=7663;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27620951 chr22_27620951_C_G C G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.129;CADD_Rawscore=-0.54282;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5762276|||||||||||||||||||||chr22:g.27620951C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=121823;gnomADv4_1_AC_joint_XX=62631;gnomADv4_1_AC_joint_XY=59192;gnomADv4_1_AF_grpmax_joint=0.888974;gnomADv4_1_AF_joint=0.800393;gnomADv4_1_AF_joint_XX=0.805088;gnomADv4_1_AF_joint_XY=0.795484;gnomADv4_1_AN_grpmax_joint=68002;gnomADv4_1_AN_joint=152204;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=49716;gnomADv4_1_nhomalt_joint_XX=25716;gnomADv4_1_nhomalt_joint_XY=24000;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27622538 chr22_27622538_A_AT;chr22_27622538_ATTTTTTTTTTT_A A AT 40 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=28;CADDIndel_PHREDscore=1.649;CADDIndel_Rawscore=0.113025;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs66975437|||||||||||||||||||||chr22:g.27622562dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=31860;gnomADv4_1_AC_joint_XX=17529;gnomADv4_1_AC_joint_XY=14331;gnomADv4_1_AF_grpmax_joint=0.388299;gnomADv4_1_AF_joint=0.319482;gnomADv4_1_AF_joint_XX=0.329022;gnomADv4_1_AF_joint_XY=0.308539;gnomADv4_1_AN_grpmax_joint=53652;gnomADv4_1_AN_joint=99724;gnomADv4_1_AN_joint_XX=53276;gnomADv4_1_AN_joint_XY=46448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5233;gnomADv4_1_nhomalt_joint_XX=2993;gnomADv4_1_nhomalt_joint_XY=2240;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27622538 chr22_27622538_A_AT;chr22_27622538_ATTTTTTTTTTT_A ATTTTTTTTTTT A 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=40;CADDIndel_PHREDscore=1.831;CADDIndel_Rawscore=0.140617;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs66975437|||||||||||||||||||||chr22:g.27622552_27622562del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=9619;gnomADv4_1_AC_joint_XX=4999;gnomADv4_1_AC_joint_XY=4620;gnomADv4_1_AF_grpmax_joint=0.110406;gnomADv4_1_AF_joint=0.0941654;gnomADv4_1_AF_joint_XX=0.0917416;gnomADv4_1_AF_joint_XY=0.0969366;gnomADv4_1_AN_grpmax_joint=8668;gnomADv4_1_AN_joint=102150;gnomADv4_1_AN_joint_XX=54490;gnomADv4_1_AN_joint_XY=47660;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=372;gnomADv4_1_nhomalt_joint_XX=174;gnomADv4_1_nhomalt_joint_XY=198;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27623949 chr22_27623949_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.177;CADD_Rawscore=-0.459624;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762282|||||||||||||||||||||chr22:g.27623949C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=63802;gnomADv4_1_AC_joint_XX=32487;gnomADv4_1_AC_joint_XY=31315;gnomADv4_1_AF_grpmax_joint=0.520548;gnomADv4_1_AF_joint=0.423607;gnomADv4_1_AF_joint_XX=0.421756;gnomADv4_1_AF_joint_XY=0.425545;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=150616;gnomADv4_1_AN_joint_XX=77028;gnomADv4_1_AN_joint_XY=73588;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=14210;gnomADv4_1_nhomalt_joint_XX=7222;gnomADv4_1_nhomalt_joint_XY=6988;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27623963 chr22_27623963_G_A G A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.786;CADD_Rawscore=-0.079684;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs78326305|||||||||||||||||||||chr22:g.27623963G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=148601;gnomADv4_1_AC_joint_XX=75944;gnomADv4_1_AC_joint_XY=72657;gnomADv4_1_AF_grpmax_joint=0.999806;gnomADv4_1_AF_joint=0.975994;gnomADv4_1_AF_joint_XX=0.975918;gnomADv4_1_AF_joint_XY=0.976074;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152256;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72619;gnomADv4_1_nhomalt_joint_XX=37109;gnomADv4_1_nhomalt_joint_XY=35510;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27625022 chr22_27625022_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.077;CADD_Rawscore=-0.681222;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5762283|||||||||||||||||||||chr22:g.27625022G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=125927;gnomADv4_1_AC_joint_XX=64625;gnomADv4_1_AC_joint_XY=61302;gnomADv4_1_AF_grpmax_joint=0.933978;gnomADv4_1_AF_joint=0.827368;gnomADv4_1_AF_joint_XX=0.830912;gnomADv4_1_AF_joint_XY=0.823664;gnomADv4_1_AN_grpmax_joint=68038;gnomADv4_1_AN_joint=152202;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=53403;gnomADv4_1_nhomalt_joint_XX=27513;gnomADv4_1_nhomalt_joint_XY=25890;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27625464 chr22_27625464_G_A G A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.953;CADD_Rawscore=-0.030365;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs187670804|||||||||||||||||||||chr22:g.27625464G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=151667;gnomADv4_1_AC_joint_XX=77496;gnomADv4_1_AC_joint_XY=74171;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.996184;gnomADv4_1_AF_joint_XX=0.996093;gnomADv4_1_AF_joint_XY=0.996279;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152248;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75547;gnomADv4_1_nhomalt_joint_XX=38597;gnomADv4_1_nhomalt_joint_XY=36950;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27625507 chr22_27625507_CT_C CT C 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.004;CADDIndel_Rawscore=-1.59208;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs133978|||||||||||||||||||||chr22:g.27625520del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=84065;gnomADv4_1_AC_joint_XX=43134;gnomADv4_1_AC_joint_XY=40931;gnomADv4_1_AF_grpmax_joint=0.707746;gnomADv4_1_AF_joint=0.567501;gnomADv4_1_AF_joint_XX=0.56715;gnomADv4_1_AF_joint_XY=0.567871;gnomADv4_1_AN_grpmax_joint=284;gnomADv4_1_AN_joint=148132;gnomADv4_1_AN_joint_XX=76054;gnomADv4_1_AN_joint_XY=72078;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=24418;gnomADv4_1_nhomalt_joint_XX=12578;gnomADv4_1_nhomalt_joint_XY=11840;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27625660 chr22_27625660_A_G A G 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.705;CADD_Rawscore=-0.107249;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs10427988|||||||||||||||||||||chr22:g.27625660A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=125513;gnomADv4_1_AC_joint_XX=64483;gnomADv4_1_AC_joint_XY=61030;gnomADv4_1_AF_grpmax_joint=0.934036;gnomADv4_1_AF_joint=0.827878;gnomADv4_1_AF_joint_XX=0.831288;gnomADv4_1_AF_joint_XY=0.824306;gnomADv4_1_AN_grpmax_joint=67946;gnomADv4_1_AN_joint=151608;gnomADv4_1_AN_joint_XX=77570;gnomADv4_1_AN_joint_XY=74038;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=53237;gnomADv4_1_nhomalt_joint_XX=27455;gnomADv4_1_nhomalt_joint_XY=25782;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27625767 chr22_27625767_T_G T G 42 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.627;CADD_Rawscore=0.109552;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5752600|||||||||||||||||||||chr22:g.27625767T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=101746;gnomADv4_1_AC_joint_XX=52286;gnomADv4_1_AC_joint_XY=49460;gnomADv4_1_AF_grpmax_joint=0.77945;gnomADv4_1_AF_joint=0.671759;gnomADv4_1_AF_joint_XX=0.67478;gnomADv4_1_AF_joint_XY=0.668595;gnomADv4_1_AN_grpmax_joint=67912;gnomADv4_1_AN_joint=151462;gnomADv4_1_AN_joint_XX=77486;gnomADv4_1_AN_joint_XY=73976;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=35540;gnomADv4_1_nhomalt_joint_XX=18334;gnomADv4_1_nhomalt_joint_XY=17206;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27625829 chr22_27625829_G_A G A 30 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=.;AF_XY=0.5;AN=4;AN_XX=0;AN_XY=4;AQ=30;CADD_PHREDscore=1.698;CADD_Rawscore=0.120774;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5762284|||||||||||||||||||||chr22:g.27625829G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=96247;gnomADv4_1_AC_joint_XX=50244;gnomADv4_1_AC_joint_XY=46003;gnomADv4_1_AF_grpmax_joint=0.785579;gnomADv4_1_AF_joint=0.68367;gnomADv4_1_AF_joint_XX=0.687728;gnomADv4_1_AF_joint_XY=0.679292;gnomADv4_1_AN_grpmax_joint=66472;gnomADv4_1_AN_joint=140780;gnomADv4_1_AN_joint_XX=73058;gnomADv4_1_AN_joint_XY=67722;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=33688;gnomADv4_1_nhomalt_joint_XX=17693;gnomADv4_1_nhomalt_joint_XY=15995;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27625862 chr22_27625862_C_CT C CT 13 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=13;CADDIndel_PHREDscore=0.187;CADDIndel_Rawscore=-0.444706;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs57095000|||||||||||||||||||||chr22:g.27625886dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=11718;gnomADv4_1_AC_joint_XX=6786;gnomADv4_1_AC_joint_XY=4932;gnomADv4_1_AF_grpmax_joint=0.375;gnomADv4_1_AF_joint=0.200301;gnomADv4_1_AF_joint_XX=0.201353;gnomADv4_1_AF_joint_XY=0.198871;gnomADv4_1_AN_grpmax_joint=40;gnomADv4_1_AN_joint=58502;gnomADv4_1_AN_joint_XX=33702;gnomADv4_1_AN_joint_XY=24800;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2153;gnomADv4_1_nhomalt_joint_XX=1249;gnomADv4_1_nhomalt_joint_XY=904;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27626062 chr22_27626062_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.027;CADD_Rawscore=-0.010825;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs73162330|||||||||||||||||||||chr22:g.27626062G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=10778;gnomADv4_1_AC_joint_XX=5740;gnomADv4_1_AC_joint_XY=5038;gnomADv4_1_AF_grpmax_joint=0.105292;gnomADv4_1_AF_joint=0.0712087;gnomADv4_1_AF_joint_XX=0.0740703;gnomADv4_1_AF_joint_XY=0.0682064;gnomADv4_1_AN_grpmax_joint=67840;gnomADv4_1_AN_joint=151358;gnomADv4_1_AN_joint_XX=77494;gnomADv4_1_AN_joint_XY=73864;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=545;gnomADv4_1_nhomalt_joint_XX=296;gnomADv4_1_nhomalt_joint_XY=249;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27626144 chr22_27626144_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.554;CADD_Rawscore=0.229477;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs133979|||||||||||||||||||||chr22:g.27626144T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=102053;gnomADv4_1_AC_joint_XX=52447;gnomADv4_1_AC_joint_XY=49606;gnomADv4_1_AF_grpmax_joint=0.780538;gnomADv4_1_AF_joint=0.672889;gnomADv4_1_AF_joint_XX=0.675898;gnomADv4_1_AF_joint_XY=0.669736;gnomADv4_1_AN_grpmax_joint=67916;gnomADv4_1_AN_joint=151664;gnomADv4_1_AN_joint_XX=77596;gnomADv4_1_AN_joint_XY=74068;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=35692;gnomADv4_1_nhomalt_joint_XX=18415;gnomADv4_1_nhomalt_joint_XY=17277;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27626764 chr22_27626764_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.169;CADD_Rawscore=0.185552;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs133980|||||||||||||||||||||chr22:g.27626764A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=64140;gnomADv4_1_AC_joint_XX=32673;gnomADv4_1_AC_joint_XY=31467;gnomADv4_1_AF_grpmax_joint=0.513699;gnomADv4_1_AF_joint=0.421907;gnomADv4_1_AF_joint_XX=0.420296;gnomADv4_1_AF_joint_XY=0.423593;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152024;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=14286;gnomADv4_1_nhomalt_joint_XX=7260;gnomADv4_1_nhomalt_joint_XY=7026;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27627136 chr22_27627136_A_G A G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=4.2;CADD_Rawscore=0.383004;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs133983|||||||||||||||||||||chr22:g.27627136A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=65906;gnomADv4_1_AC_joint_XX=33624;gnomADv4_1_AC_joint_XY=32282;gnomADv4_1_AF_grpmax_joint=0.508542;gnomADv4_1_AF_joint=0.435132;gnomADv4_1_AF_joint_XX=0.433869;gnomADv4_1_AF_joint_XY=0.436456;gnomADv4_1_AN_grpmax_joint=4800;gnomADv4_1_AN_joint=151462;gnomADv4_1_AN_joint_XX=77498;gnomADv4_1_AN_joint_XY=73964;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=14901;gnomADv4_1_nhomalt_joint_XX=7620;gnomADv4_1_nhomalt_joint_XY=7281;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27627139 chr22_27627139_G_T G T 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.225;CADD_Rawscore=0.035025;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs133984|||||||||||||||||||||chr22:g.27627139G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=64715;gnomADv4_1_AC_joint_XX=33024;gnomADv4_1_AC_joint_XY=31691;gnomADv4_1_AF_grpmax_joint=0.507708;gnomADv4_1_AF_joint=0.42706;gnomADv4_1_AF_joint_XX=0.42594;gnomADv4_1_AF_joint_XY=0.428234;gnomADv4_1_AN_grpmax_joint=4800;gnomADv4_1_AN_joint=151536;gnomADv4_1_AN_joint_XX=77532;gnomADv4_1_AN_joint_XY=74004;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=14529;gnomADv4_1_nhomalt_joint_XX=7411;gnomADv4_1_nhomalt_joint_XY=7118;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27627911 chr22_27627911_G_T G T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=10.25;CADD_Rawscore=0.993224;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs133985|||||||||||||||||||||chr22:g.27627911G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=125585;gnomADv4_1_AC_joint_XX=64383;gnomADv4_1_AC_joint_XY=61202;gnomADv4_1_AF_grpmax_joint=0.942759;gnomADv4_1_AF_joint=0.825186;gnomADv4_1_AF_joint_XX=0.827864;gnomADv4_1_AF_joint_XY=0.822386;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152190;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=53430;gnomADv4_1_nhomalt_joint_XX=27470;gnomADv4_1_nhomalt_joint_XY=25960;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27628218 chr22_27628218_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.893;CADD_Rawscore=-0.047064;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs133986|||||||||||||||||||||chr22:g.27628218C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=123516;gnomADv4_1_AC_joint_XX=63276;gnomADv4_1_AC_joint_XY=60240;gnomADv4_1_AF_grpmax_joint=0.925909;gnomADv4_1_AF_joint=0.811697;gnomADv4_1_AF_joint_XX=0.813714;gnomADv4_1_AF_joint_XY=0.80959;gnomADv4_1_AN_grpmax_joint=68024;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=51701;gnomADv4_1_nhomalt_joint_XX=26553;gnomADv4_1_nhomalt_joint_XY=25148;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27628503 chr22_27628503_C_T C T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.709;CADD_Rawscore=-0.105666;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs133987|||||||||||||||||||||chr22:g.27628503C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=123413;gnomADv4_1_AC_joint_XX=63134;gnomADv4_1_AC_joint_XY=60279;gnomADv4_1_AF_grpmax_joint=0.926914;gnomADv4_1_AF_joint=0.811639;gnomADv4_1_AF_joint_XX=0.812368;gnomADv4_1_AF_joint_XY=0.810877;gnomADv4_1_AN_grpmax_joint=68016;gnomADv4_1_AN_joint=152054;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=51799;gnomADv4_1_nhomalt_joint_XX=26520;gnomADv4_1_nhomalt_joint_XY=25279;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27628542 chr22_27628542_G_C G C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=6.321;CADD_Rawscore=0.586012;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs133988|||||||||||||||||||||chr22:g.27628542G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=77919;gnomADv4_1_AC_joint_XX=39553;gnomADv4_1_AC_joint_XY=38366;gnomADv4_1_AF_grpmax_joint=0.615672;gnomADv4_1_AF_joint=0.51245;gnomADv4_1_AF_joint_XX=0.508904;gnomADv4_1_AF_joint_XY=0.516158;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152052;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=20519;gnomADv4_1_nhomalt_joint_XX=10319;gnomADv4_1_nhomalt_joint_XY=10200;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27629652 chr22_27629652_C_CT C CT 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.479;CADDIndel_Rawscore=-0.203821;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs3044352|||||||||||||||||||||chr22:g.27629668dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=65322;gnomADv4_1_AC_joint_XX=34268;gnomADv4_1_AC_joint_XY=31054;gnomADv4_1_AF_grpmax_joint=0.611423;gnomADv4_1_AF_joint=0.488119;gnomADv4_1_AF_joint_XX=0.489403;gnomADv4_1_AF_joint_XY=0.486709;gnomADv4_1_AN_grpmax_joint=4272;gnomADv4_1_AN_joint=133824;gnomADv4_1_AN_joint_XX=70020;gnomADv4_1_AN_joint_XY=63804;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=16389;gnomADv4_1_nhomalt_joint_XX=8599;gnomADv4_1_nhomalt_joint_XY=7790;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27630084 chr22_27630084_T_G T G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=8.48;CADD_Rawscore=0.820561;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5762289|||||||||||||||||||||chr22:g.27630084T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=20329;gnomADv4_1_AC_joint_XX=10278;gnomADv4_1_AC_joint_XY=10051;gnomADv4_1_AF_grpmax_joint=0.402397;gnomADv4_1_AF_joint=0.133599;gnomADv4_1_AF_joint_XX=0.132179;gnomADv4_1_AF_joint_XY=0.135083;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152164;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2857;gnomADv4_1_nhomalt_joint_XX=1458;gnomADv4_1_nhomalt_joint_XY=1399;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27630604 chr22_27630604_C_A C A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=8.113;CADD_Rawscore=0.781258;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs73427081|||||||||||||||||||||chr22:g.27630604C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=16851;gnomADv4_1_AC_joint_XX=8485;gnomADv4_1_AC_joint_XY=8366;gnomADv4_1_AF_grpmax_joint=0.404659;gnomADv4_1_AF_joint=0.110863;gnomADv4_1_AF_joint_XX=0.109213;gnomADv4_1_AF_joint_XY=0.112588;gnomADv4_1_AN_grpmax_joint=5066;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2178;gnomADv4_1_nhomalt_joint_XX=1113;gnomADv4_1_nhomalt_joint_XY=1065;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27631056 chr22_27631056_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.952;CADD_Rawscore=-0.030548;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs133990|||||||||||||||||||||chr22:g.27631056A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=124898;gnomADv4_1_AC_joint_XX=63978;gnomADv4_1_AC_joint_XY=60920;gnomADv4_1_AF_grpmax_joint=0.868235;gnomADv4_1_AF_joint=0.822921;gnomADv4_1_AF_joint_XX=0.824268;gnomADv4_1_AF_joint_XY=0.821511;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=151774;gnomADv4_1_AN_joint_XX=77618;gnomADv4_1_AN_joint_XY=74156;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=51442;gnomADv4_1_nhomalt_joint_XX=26401;gnomADv4_1_nhomalt_joint_XY=25041;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27631370 chr22_27631370_T_A T A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.055;CADD_Rawscore=-0.771626;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs133992|||||||||||||||||||||chr22:g.27631370T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=113712;gnomADv4_1_AC_joint_XX=58267;gnomADv4_1_AC_joint_XY=55445;gnomADv4_1_AF_grpmax_joint=0.788884;gnomADv4_1_AF_joint=0.747545;gnomADv4_1_AF_joint_XX=0.749145;gnomADv4_1_AF_joint_XY=0.74587;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=42613;gnomADv4_1_nhomalt_joint_XX=21851;gnomADv4_1_nhomalt_joint_XY=20762;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27631559 chr22_27631559_TA_T TA T 40 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.343;CADDIndel_Rawscore=-0.288165;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs34083377|||||||||||||||||||||chr22:g.27631560del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=76140;gnomADv4_1_AC_joint_XX=38725;gnomADv4_1_AC_joint_XY=37415;gnomADv4_1_AF_grpmax_joint=0.561644;gnomADv4_1_AF_joint=0.50131;gnomADv4_1_AF_joint_XX=0.498674;gnomADv4_1_AF_joint_XY=0.504069;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=151882;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=19448;gnomADv4_1_nhomalt_joint_XX=9824;gnomADv4_1_nhomalt_joint_XY=9624;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27631807 chr22_27631809_TGTGTGA_T;chr22_27631807_TGTGTGTGA_T TGTGTGTGA T 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=1.362;CADDIndel_Rawscore=0.062697;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs199577842|||||||||||||||||||||chr22:g.27631815_27631822del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=10568;gnomADv4_1_AC_joint_XX=4995;gnomADv4_1_AC_joint_XY=5573;gnomADv4_1_AF_grpmax_joint=0.173667;gnomADv4_1_AF_joint=0.0850913;gnomADv4_1_AF_joint_XX=0.0787358;gnomADv4_1_AF_joint_XY=0.0917276;gnomADv4_1_AN_grpmax_joint=3714;gnomADv4_1_AN_joint=124196;gnomADv4_1_AN_joint_XX=63440;gnomADv4_1_AN_joint_XY=60756;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=516;gnomADv4_1_nhomalt_joint_XX=221;gnomADv4_1_nhomalt_joint_XY=295;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27631809 chr22_27631809_TGTGTGA_T;chr22_27631807_TGTGTGTGA_T TGTGTGA T 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.777;CADDIndel_Rawscore=-0.082621;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs3044365|||||||||||||||||||||chr22:g.27631815_27631820del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=61035;gnomADv4_1_AC_joint_XX=31422;gnomADv4_1_AC_joint_XY=29613;gnomADv4_1_AF_grpmax_joint=0.517986;gnomADv4_1_AF_joint=0.437401;gnomADv4_1_AF_joint_XX=0.437754;gnomADv4_1_AF_joint_XY=0.437028;gnomADv4_1_AN_grpmax_joint=278;gnomADv4_1_AN_joint=139540;gnomADv4_1_AN_joint_XX=71780;gnomADv4_1_AN_joint_XY=67760;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=12437;gnomADv4_1_nhomalt_joint_XX=6456;gnomADv4_1_nhomalt_joint_XY=5981;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27631967 chr22_27631967_G_T G T 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.084;CADD_Rawscore=-0.65732;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs8141506|||||||||||||||||||||chr22:g.27631967G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=149333;gnomADv4_1_AC_joint_XX=76316;gnomADv4_1_AC_joint_XY=73017;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.981576;gnomADv4_1_AF_joint_XX=0.981657;gnomADv4_1_AF_joint_XY=0.98149;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73353;gnomADv4_1_nhomalt_joint_XX=37490;gnomADv4_1_nhomalt_joint_XY=35863;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27632211 chr22_27632211_AGT_A AGT A 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.842;CADDIndel_Rawscore=-0.06196;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs1201548555|||||||||||||||||||||chr22:g.27632234_27632235del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=65942;gnomADv4_1_AC_joint_XX=33163;gnomADv4_1_AC_joint_XY=32779;gnomADv4_1_AF_grpmax_joint=0.510122;gnomADv4_1_AF_joint=0.44351;gnomADv4_1_AF_joint_XX=0.43537;gnomADv4_1_AF_joint_XY=0.452062;gnomADv4_1_AN_grpmax_joint=14918;gnomADv4_1_AN_joint=148682;gnomADv4_1_AN_joint_XX=76172;gnomADv4_1_AN_joint_XY=72510;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=15060;gnomADv4_1_nhomalt_joint_XX=7348;gnomADv4_1_nhomalt_joint_XY=7712;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27632218 chr22_27632218_G_A G A 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=0.651;CADD_Rawscore=-0.127262;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs77708370|||||||||||||||||||||chr22:g.27632218G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=24791;gnomADv4_1_AC_joint_XX=12673;gnomADv4_1_AC_joint_XY=12118;gnomADv4_1_AF_grpmax_joint=0.30058;gnomADv4_1_AF_joint=0.165616;gnomADv4_1_AF_joint_XX=0.165634;gnomADv4_1_AF_joint_XY=0.165596;gnomADv4_1_AN_grpmax_joint=39976;gnomADv4_1_AN_joint=149690;gnomADv4_1_AN_joint_XX=76512;gnomADv4_1_AN_joint_XY=73178;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2587;gnomADv4_1_nhomalt_joint_XX=1326;gnomADv4_1_nhomalt_joint_XY=1261;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27632234 chr22_27632234_G_A G A 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.918;CADD_Rawscore=-0.039819;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs75705035|||||||||||||||||||||chr22:g.27632234G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=24776;gnomADv4_1_AC_joint_XX=12660;gnomADv4_1_AC_joint_XY=12116;gnomADv4_1_AF_grpmax_joint=0.307373;gnomADv4_1_AF_joint=0.17511;gnomADv4_1_AF_joint_XX=0.174423;gnomADv4_1_AF_joint_XY=0.175834;gnomADv4_1_AN_grpmax_joint=39060;gnomADv4_1_AN_joint=141488;gnomADv4_1_AN_joint_XX=72582;gnomADv4_1_AN_joint_XY=68906;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2576;gnomADv4_1_nhomalt_joint_XX=1324;gnomADv4_1_nhomalt_joint_XY=1252;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27632236 chr22_27632236_A_G A G 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=1.349;CADD_Rawscore=0.060292;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs62236612|||||||||||||||||||||chr22:g.27632236A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=25017;gnomADv4_1_AC_joint_XX=12785;gnomADv4_1_AC_joint_XY=12232;gnomADv4_1_AF_grpmax_joint=0.324784;gnomADv4_1_AF_joint=0.189276;gnomADv4_1_AF_joint_XX=0.188781;gnomADv4_1_AF_joint_XY=0.189796;gnomADv4_1_AN_grpmax_joint=37274;gnomADv4_1_AN_joint=132172;gnomADv4_1_AN_joint_XX=67724;gnomADv4_1_AN_joint_XY=64448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2647;gnomADv4_1_nhomalt_joint_XX=1366;gnomADv4_1_nhomalt_joint_XY=1281;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27632782 chr22_27632782_C_T C T 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=4.422;CADD_Rawscore=0.40286;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs133993|||||||||||||||||||||chr22:g.27632782C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=149600;gnomADv4_1_AC_joint_XX=76449;gnomADv4_1_AC_joint_XY=73151;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.982001;gnomADv4_1_AF_joint_XX=0.982004;gnomADv4_1_AF_joint_XY=0.981998;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152342;gnomADv4_1_AN_joint_XX=77850;gnomADv4_1_AN_joint_XY=74492;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73519;gnomADv4_1_nhomalt_joint_XX=37572;gnomADv4_1_nhomalt_joint_XY=35947;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27632981 chr22_27632981_C_G C G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.457;CADD_Rawscore=0.08042;CSQ=G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DZ5N|enhancer||||||||||rs133994|||||||||||||||||||||chr22:g.27632981C>G|||||||||||||,G|intergenic_variant|MODIFIER|||||||||||||||rs133994|||||||||||||||||||||chr22:g.27632981C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENSR22_9DZ5N,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=26012;gnomADv4_1_AC_joint_XX=13308;gnomADv4_1_AC_joint_XY=12704;gnomADv4_1_AF_grpmax_joint=0.312301;gnomADv4_1_AF_joint=0.170878;gnomADv4_1_AF_joint_XX=0.171067;gnomADv4_1_AF_joint_XY=0.170679;gnomADv4_1_AN_grpmax_joint=41524;gnomADv4_1_AN_joint=152226;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2957;gnomADv4_1_nhomalt_joint_XX=1513;gnomADv4_1_nhomalt_joint_XY=1444;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27633571 chr22_27633571_C_T C T 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=7.179;CADD_Rawscore=0.677581;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs16985179|||||||||||||||||||||chr22:g.27633571C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=16198;gnomADv4_1_AC_joint_XX=8272;gnomADv4_1_AC_joint_XY=7926;gnomADv4_1_AF_grpmax_joint=0.207483;gnomADv4_1_AF_joint=0.106427;gnomADv4_1_AF_joint_XX=0.106321;gnomADv4_1_AF_joint_XY=0.106538;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=940;gnomADv4_1_nhomalt_joint_XX=459;gnomADv4_1_nhomalt_joint_XY=481;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27633718 chr22_27633718_G_T G T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.843;CADD_Rawscore=0.142373;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs133996|||||||||||||||||||||chr22:g.27633718G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=25952;gnomADv4_1_AC_joint_XX=13272;gnomADv4_1_AC_joint_XY=12680;gnomADv4_1_AF_grpmax_joint=0.311463;gnomADv4_1_AF_joint=0.170548;gnomADv4_1_AF_joint_XX=0.170653;gnomADv4_1_AF_joint_XY=0.170439;gnomADv4_1_AN_grpmax_joint=41472;gnomADv4_1_AN_joint=152168;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2945;gnomADv4_1_nhomalt_joint_XX=1507;gnomADv4_1_nhomalt_joint_XY=1438;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27634110 chr22_27634110_G_A G A 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.202;CADD_Rawscore=-0.424391;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs1106827|||||||||||||||||||||chr22:g.27634110G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=144855;gnomADv4_1_AC_joint_XX=73909;gnomADv4_1_AC_joint_XY=70946;gnomADv4_1_AF_grpmax_joint=0.999419;gnomADv4_1_AF_joint=0.951504;gnomADv4_1_AF_joint_XX=0.949889;gnomADv4_1_AF_joint_XY=0.953191;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=69147;gnomADv4_1_nhomalt_joint_XX=35229;gnomADv4_1_nhomalt_joint_XY=33918;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27634124 chr22_27634124_A_T A T 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.731;CADD_Rawscore=-0.098069;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs9620709|||||||||||||||||||||chr22:g.27634124A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=25983;gnomADv4_1_AC_joint_XX=13291;gnomADv4_1_AC_joint_XY=12692;gnomADv4_1_AF_grpmax_joint=0.312319;gnomADv4_1_AF_joint=0.170817;gnomADv4_1_AF_joint_XX=0.170963;gnomADv4_1_AF_joint_XY=0.170665;gnomADv4_1_AN_grpmax_joint=41448;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2953;gnomADv4_1_nhomalt_joint_XX=1511;gnomADv4_1_nhomalt_joint_XY=1442;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27634266 chr22_27634266_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.135;CADD_Rawscore=-0.531032;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs2006876|||||||||||||||||||||chr22:g.27634266C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=66180;gnomADv4_1_AC_joint_XX=33544;gnomADv4_1_AC_joint_XY=32636;gnomADv4_1_AF_grpmax_joint=0.54618;gnomADv4_1_AF_joint=0.435693;gnomADv4_1_AF_joint_XX=0.432201;gnomADv4_1_AF_joint_XY=0.439341;gnomADv4_1_AN_grpmax_joint=67930;gnomADv4_1_AN_joint=151896;gnomADv4_1_AN_joint_XX=77612;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16180;gnomADv4_1_nhomalt_joint_XX=8133;gnomADv4_1_nhomalt_joint_XY=8047;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27634658 chr22_27634658_C_T C T 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.167;CADD_Rawscore=-0.474511;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs133997|||||||||||||||||||||chr22:g.27634658C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=25971;gnomADv4_1_AC_joint_XX=13284;gnomADv4_1_AC_joint_XY=12687;gnomADv4_1_AF_grpmax_joint=0.311951;gnomADv4_1_AF_joint=0.170783;gnomADv4_1_AF_joint_XX=0.17093;gnomADv4_1_AF_joint_XY=0.17063;gnomADv4_1_AN_grpmax_joint=41452;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2946;gnomADv4_1_nhomalt_joint_XX=1509;gnomADv4_1_nhomalt_joint_XY=1437;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27634671 chr22_27634671_C_T C T 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.043;CADD_Rawscore=-0.839368;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs133998|||||||||||||||||||||chr22:g.27634671C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=25973;gnomADv4_1_AC_joint_XX=13291;gnomADv4_1_AC_joint_XY=12682;gnomADv4_1_AF_grpmax_joint=0.312183;gnomADv4_1_AF_joint=0.170776;gnomADv4_1_AF_joint_XX=0.170954;gnomADv4_1_AF_joint_XY=0.17059;gnomADv4_1_AN_grpmax_joint=41450;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2950;gnomADv4_1_nhomalt_joint_XX=1512;gnomADv4_1_nhomalt_joint_XY=1438;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27634683 chr22_27634683_G_A G A 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.825;CADD_Rawscore=-0.067243;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs133999|||||||||||||||||||||chr22:g.27634683G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=25970;gnomADv4_1_AC_joint_XX=13290;gnomADv4_1_AC_joint_XY=12680;gnomADv4_1_AF_grpmax_joint=0.311765;gnomADv4_1_AF_joint=0.170703;gnomADv4_1_AF_joint_XX=0.170884;gnomADv4_1_AF_joint_XY=0.170513;gnomADv4_1_AN_grpmax_joint=41480;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2946;gnomADv4_1_nhomalt_joint_XX=1510;gnomADv4_1_nhomalt_joint_XY=1436;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27634948 chr22_27634948_C_A C A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.878;CADD_Rawscore=-0.05121;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs11702878|||||||||||||||||||||chr22:g.27634948C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=24892;gnomADv4_1_AC_joint_XX=12426;gnomADv4_1_AC_joint_XY=12466;gnomADv4_1_AF_grpmax_joint=0.255915;gnomADv4_1_AF_joint=0.16375;gnomADv4_1_AF_joint_XX=0.159923;gnomADv4_1_AF_joint_XY=0.167752;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2146;gnomADv4_1_nhomalt_joint_XX=1033;gnomADv4_1_nhomalt_joint_XY=1113;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27635039 chr22_27635039_TAC_T;chr22_27635039_T_TATACACACAC;chr22_27635039_T_TACACACACACACACACAC TAC T 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=43;CADDIndel_PHREDscore=0.822;CADDIndel_Rawscore=-0.068129;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs144528877|||||||||||||||||||||chr22:g.27635065_27635066del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=49685;gnomADv4_1_AC_joint_XX=25685;gnomADv4_1_AC_joint_XY=24000;gnomADv4_1_AF_grpmax_joint=0.380547;gnomADv4_1_AF_joint=0.341131;gnomADv4_1_AF_joint_XX=0.340804;gnomADv4_1_AF_joint_XY=0.341481;gnomADv4_1_AN_grpmax_joint=4462;gnomADv4_1_AN_joint=145648;gnomADv4_1_AN_joint_XX=75366;gnomADv4_1_AN_joint_XY=70282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=8355;gnomADv4_1_nhomalt_joint_XX=4375;gnomADv4_1_nhomalt_joint_XY=3980;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27635039 chr22_27635039_TAC_T;chr22_27635039_T_TATACACACAC;chr22_27635039_T_TACACACACACACACACAC T TATACACACAC 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=43;CADDIndel_PHREDscore=1.118;CADDIndel_Rawscore=0.011251;CSQ=ATACACACAC|intergenic_variant|MODIFIER|||||||||||||||rs1320390805|||||||||||||||||||||chr22:g.27635040_27635041insTACACACACA|||||||||||||;TYPE=INDEL;VEP_Allele=ATACACACAC;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15799;gnomADv4_1_AC_joint_XX=8171;gnomADv4_1_AC_joint_XY=7628;gnomADv4_1_AF_grpmax_joint=0.203876;gnomADv4_1_AF_joint=0.108352;gnomADv4_1_AF_joint_XX=0.1083;gnomADv4_1_AF_joint_XY=0.108408;gnomADv4_1_AN_grpmax_joint=40098;gnomADv4_1_AN_joint=145812;gnomADv4_1_AN_joint_XX=75448;gnomADv4_1_AN_joint_XY=70364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1219;gnomADv4_1_nhomalt_joint_XX=634;gnomADv4_1_nhomalt_joint_XY=585;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27635039 chr22_27635039_TAC_T;chr22_27635039_T_TATACACACAC;chr22_27635039_T_TACACACACACACACACAC T TACACACACACACACACAC 43 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=18;CADDIndel_PHREDscore=1.004;CADDIndel_Rawscore=-0.016838;CSQ=ACACACACACACACACAC|intergenic_variant|MODIFIER|||||||||||||||rs144528877|||||||||||||||||||||chr22:g.27635049_27635066dup|||||||||||||;TYPE=INDEL;VEP_Allele=ACACACACACACACACAC;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=22006;gnomADv4_1_AC_joint_XX=11612;gnomADv4_1_AC_joint_XY=10394;gnomADv4_1_AF_grpmax_joint=0.2197;gnomADv4_1_AF_joint=0.151153;gnomADv4_1_AF_joint_XX=0.154058;gnomADv4_1_AF_joint_XY=0.148033;gnomADv4_1_AN_grpmax_joint=66090;gnomADv4_1_AN_joint=145588;gnomADv4_1_AN_joint_XX=75374;gnomADv4_1_AN_joint_XY=70214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2104;gnomADv4_1_nhomalt_joint_XX=1123;gnomADv4_1_nhomalt_joint_XY=981;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27635612 chr22_27635612_A_AG A AG 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=6.099;CADDIndel_Rawscore=0.5632;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5844777|||||||||||||||||||||chr22:g.27635614dup|||||||||||||;TYPE=INDEL;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26154;gnomADv4_1_AC_joint_XX=13076;gnomADv4_1_AC_joint_XY=13078;gnomADv4_1_AF_grpmax_joint=0.255925;gnomADv4_1_AF_joint=0.171792;gnomADv4_1_AF_joint_XX=0.168059;gnomADv4_1_AF_joint_XY=0.175695;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=152242;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2372;gnomADv4_1_nhomalt_joint_XX=1161;gnomADv4_1_nhomalt_joint_XY=1211;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27636866 chr22_27636866_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.739;CADD_Rawscore=-0.09515;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs4822926|||||||||||||||||||||chr22:g.27636866G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=82058;gnomADv4_1_AC_joint_XX=42230;gnomADv4_1_AC_joint_XY=39828;gnomADv4_1_AF_grpmax_joint=0.707046;gnomADv4_1_AF_joint=0.539955;gnomADv4_1_AF_joint_XX=0.543529;gnomADv4_1_AF_joint_XY=0.536216;gnomADv4_1_AN_grpmax_joint=41440;gnomADv4_1_AN_joint=151972;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23134;gnomADv4_1_nhomalt_joint_XX=11953;gnomADv4_1_nhomalt_joint_XY=11181;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27636916 chr22_27636916_C_CCATT;chr22_27636916_CCATT_C C CCATT 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.547;CADDIndel_Rawscore=-0.170628;CSQ=CATT|intergenic_variant|MODIFIER|||||||||||||||rs10635726|||||||||||||||||||||chr22:g.27636948_27636951dup|||||||||||||;TYPE=INDEL;VEP_Allele=CATT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35274;gnomADv4_1_AC_joint_XX=17837;gnomADv4_1_AC_joint_XY=17437;gnomADv4_1_AF_grpmax_joint=0.302373;gnomADv4_1_AF_joint=0.234232;gnomADv4_1_AF_joint_XX=0.231271;gnomADv4_1_AF_joint_XY=0.237341;gnomADv4_1_AN_grpmax_joint=67592;gnomADv4_1_AN_joint=150594;gnomADv4_1_AN_joint_XX=77126;gnomADv4_1_AN_joint_XY=73468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4820;gnomADv4_1_nhomalt_joint_XX=2427;gnomADv4_1_nhomalt_joint_XY=2393;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27636916 chr22_27636916_C_CCATT;chr22_27636916_CCATT_C CCATT C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.577;CADDIndel_Rawscore=-0.157355;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs10635726|||||||||||||||||||||chr22:g.27636948_27636951del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26105;gnomADv4_1_AC_joint_XX=13407;gnomADv4_1_AC_joint_XY=12698;gnomADv4_1_AF_grpmax_joint=0.237762;gnomADv4_1_AF_joint=0.173363;gnomADv4_1_AF_joint_XX=0.173832;gnomADv4_1_AF_joint_XY=0.17287;gnomADv4_1_AN_grpmax_joint=286;gnomADv4_1_AN_joint=150580;gnomADv4_1_AN_joint_XX=77126;gnomADv4_1_AN_joint_XY=73454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2376;gnomADv4_1_nhomalt_joint_XX=1227;gnomADv4_1_nhomalt_joint_XY=1149;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27637065 chr22_27637065_A_G A G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.076;CADD_Rawscore=-0.686046;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs134003|||||||||||||||||||||chr22:g.27637065A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=20759;gnomADv4_1_AC_joint_XX=10583;gnomADv4_1_AC_joint_XY=10176;gnomADv4_1_AF_grpmax_joint=0.277153;gnomADv4_1_AF_joint=0.136386;gnomADv4_1_AF_joint_XX=0.13607;gnomADv4_1_AF_joint_XY=0.136715;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152208;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2081;gnomADv4_1_nhomalt_joint_XX=1051;gnomADv4_1_nhomalt_joint_XY=1030;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27637551 chr22_27637551_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.746;CADD_Rawscore=-0.092717;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs134004|||||||||||||||||||||chr22:g.27637551A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=146336;gnomADv4_1_AC_joint_XX=74728;gnomADv4_1_AC_joint_XY=71608;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.960916;gnomADv4_1_AF_joint_XX=0.960292;gnomADv4_1_AF_joint_XY=0.961568;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152288;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74470;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70612;gnomADv4_1_nhomalt_joint_XX=36023;gnomADv4_1_nhomalt_joint_XY=34589;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27637663 chr22_27637663_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.475;CADD_Rawscore=-0.206184;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs134005|||||||||||||||||||||chr22:g.27637663T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=18145;gnomADv4_1_AC_joint_XX=9219;gnomADv4_1_AC_joint_XY=8926;gnomADv4_1_AF_grpmax_joint=0.272321;gnomADv4_1_AF_joint=0.119232;gnomADv4_1_AF_joint_XX=0.118536;gnomADv4_1_AF_joint_XY=0.11996;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152182;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1551;gnomADv4_1_nhomalt_joint_XX=783;gnomADv4_1_nhomalt_joint_XY=768;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27637773 chr22_27637773_G_A G A 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.298;CADD_Rawscore=-0.323415;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DZ73|enhancer||||||||||rs16985213|||||||||||||||||||||chr22:g.27637773G>A|||||||||||||,A|intergenic_variant|MODIFIER|||||||||||||||rs16985213|||||||||||||||||||||chr22:g.27637773G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENSR22_9DZ73,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=150095;gnomADv4_1_AC_joint_XX=76722;gnomADv4_1_AC_joint_XY=73373;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.985211;gnomADv4_1_AF_joint_XX=0.985536;gnomADv4_1_AF_joint_XY=0.984872;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152348;gnomADv4_1_AN_joint_XX=77848;gnomADv4_1_AN_joint_XY=74500;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73985;gnomADv4_1_nhomalt_joint_XX=37830;gnomADv4_1_nhomalt_joint_XY=36155;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27637859 chr22_27637859_G_C G C 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.354;CADD_Rawscore=-0.279882;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DZ73|enhancer||||||||||rs134006|||||||||||||||||||||chr22:g.27637859G>C|||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs134006|||||||||||||||||||||chr22:g.27637859G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENSR22_9DZ73,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=21522;gnomADv4_1_AC_joint_XX=10866;gnomADv4_1_AC_joint_XY=10656;gnomADv4_1_AF_grpmax_joint=0.280956;gnomADv4_1_AF_joint=0.141454;gnomADv4_1_AF_joint_XX=0.13972;gnomADv4_1_AF_joint_XY=0.143268;gnomADv4_1_AN_grpmax_joint=41462;gnomADv4_1_AN_joint=152148;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2324;gnomADv4_1_nhomalt_joint_XX=1187;gnomADv4_1_nhomalt_joint_XY=1137;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27637994 chr22_27637994_T_C T C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.056;CADD_Rawscore=-0.003781;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs73162337|||||||||||||||||||||chr22:g.27637994T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=29662;gnomADv4_1_AC_joint_XX=14987;gnomADv4_1_AC_joint_XY=14675;gnomADv4_1_AF_grpmax_joint=0.258503;gnomADv4_1_AF_joint=0.194968;gnomADv4_1_AF_joint_XX=0.192734;gnomADv4_1_AF_joint_XY=0.197303;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3058;gnomADv4_1_nhomalt_joint_XX=1544;gnomADv4_1_nhomalt_joint_XY=1514;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27638036 chr22_27638036_C_T C T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.054;CADD_Rawscore=-0.779767;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs134007|||||||||||||||||||||chr22:g.27638036C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=146748;gnomADv4_1_AC_joint_XX=74975;gnomADv4_1_AC_joint_XY=71773;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.964128;gnomADv4_1_AF_joint_XX=0.963738;gnomADv4_1_AF_joint_XY=0.964535;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152208;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=71005;gnomADv4_1_nhomalt_joint_XX=36263;gnomADv4_1_nhomalt_joint_XY=34742;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27638385 chr22_27638385_C_T C T 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.099;CADD_Rawscore=-0.613407;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs11705386|||||||||||||||||||||chr22:g.27638385C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=5632;gnomADv4_1_AC_joint_XX=2854;gnomADv4_1_AC_joint_XY=2778;gnomADv4_1_AF_grpmax_joint=0.0500147;gnomADv4_1_AF_joint=0.0369699;gnomADv4_1_AF_joint_XX=0.0366631;gnomADv4_1_AF_joint_XY=0.0372906;gnomADv4_1_AN_grpmax_joint=68040;gnomADv4_1_AN_joint=152340;gnomADv4_1_AN_joint_XX=77844;gnomADv4_1_AN_joint_XY=74496;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=131;gnomADv4_1_nhomalt_joint_XX=74;gnomADv4_1_nhomalt_joint_XY=57;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27638589 chr22_27638589_G_A G A 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=1.555;CADD_Rawscore=0.097511;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs134009|||||||||||||||||||||chr22:g.27638589G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=17011;gnomADv4_1_AC_joint_XX=8597;gnomADv4_1_AC_joint_XY=8414;gnomADv4_1_AF_grpmax_joint=0.268443;gnomADv4_1_AF_joint=0.111688;gnomADv4_1_AF_joint_XX=0.110456;gnomADv4_1_AF_joint_XY=0.112976;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152308;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1518;gnomADv4_1_nhomalt_joint_XX=766;gnomADv4_1_nhomalt_joint_XY=752;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27638639 chr22_27638639_G_C G C 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.208;CADD_Rawscore=-0.416414;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs134010|||||||||||||||||||||chr22:g.27638639G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=148398;gnomADv4_1_AC_joint_XX=75806;gnomADv4_1_AC_joint_XY=72592;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.973919;gnomADv4_1_AF_joint_XX=0.973619;gnomADv4_1_AF_joint_XY=0.974232;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152372;gnomADv4_1_AN_joint_XX=77860;gnomADv4_1_AN_joint_XY=74512;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72388;gnomADv4_1_nhomalt_joint_XX=36967;gnomADv4_1_nhomalt_joint_XY=35421;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27638966 chr22_27638966_G_C G C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.789;CADD_Rawscore=-0.078532;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs56000319|||||||||||||||||||||chr22:g.27638966G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=10178;gnomADv4_1_AC_joint_XX=5367;gnomADv4_1_AC_joint_XY=4811;gnomADv4_1_AF_grpmax_joint=0.0989531;gnomADv4_1_AF_joint=0.06684;gnomADv4_1_AF_joint_XX=0.0689633;gnomADv4_1_AF_joint_XY=0.0646206;gnomADv4_1_AN_grpmax_joint=68012;gnomADv4_1_AN_joint=152274;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=469;gnomADv4_1_nhomalt_joint_XX=254;gnomADv4_1_nhomalt_joint_XY=215;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27639206 chr22_27639206_C_T C T 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=4.483;CADD_Rawscore=0.408385;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs1029481952|||||||||||||||||||||chr22:g.27639206C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=10;gnomADv4_1_AC_joint_XX=4;gnomADv4_1_AC_joint_XY=6;gnomADv4_1_AF_grpmax_joint=0.000386847;gnomADv4_1_AF_joint=6.56547e-05;gnomADv4_1_AF_joint_XX=5.13888e-05;gnomADv4_1_AF_joint_XY=8.0565e-05;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152312;gnomADv4_1_AN_joint_XX=77838;gnomADv4_1_AN_joint_XY=74474;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27639324 chr22_27639324_T_G T G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=16.65;CADD_Rawscore=1.97707;CSQ=G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7H4Q|enhancer||||||||||rs115928088|||||||||||||||||||||chr22:g.27639324T>G|||||||||||||,G|intergenic_variant|MODIFIER|||||||||||||||rs115928088|||||||||||||||||||||chr22:g.27639324T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENSR22_B7H4Q,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=144196;gnomADv4_1_AC_joint_XX=73604;gnomADv4_1_AC_joint_XY=70592;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.94781;gnomADv4_1_AF_joint_XX=0.946748;gnomADv4_1_AF_joint_XY=0.948919;gnomADv4_1_AN_grpmax_joint=5118;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=68857;gnomADv4_1_nhomalt_joint_XX=35092;gnomADv4_1_nhomalt_joint_XY=33765;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27639448 chr22_27639448_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=5.433;CADD_Rawscore=0.497021;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7H4Q|enhancer||||||||||rs738348|||||||||||||||||||||chr22:g.27639448C>T|||||||||||||,T|intergenic_variant|MODIFIER|||||||||||||||rs738348|||||||||||||||||||||chr22:g.27639448C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENSR22_B7H4Q,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=28116;gnomADv4_1_AC_joint_XX=14168;gnomADv4_1_AC_joint_XY=13948;gnomADv4_1_AF_grpmax_joint=0.257457;gnomADv4_1_AF_joint=0.18475;gnomADv4_1_AF_joint_XX=0.18215;gnomADv4_1_AF_joint_XY=0.187468;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152184;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2740;gnomADv4_1_nhomalt_joint_XX=1367;gnomADv4_1_nhomalt_joint_XY=1373;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27639579 chr22_27639579_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.29;CADD_Rawscore=0.048641;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7H4Q|enhancer||||||||||rs738349|||||||||||||||||||||chr22:g.27639579T>C|||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs738349|||||||||||||||||||||chr22:g.27639579T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENSR22_B7H4Q,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=41471;gnomADv4_1_AC_joint_XX=21063;gnomADv4_1_AC_joint_XY=20408;gnomADv4_1_AF_grpmax_joint=0.36647;gnomADv4_1_AF_joint=0.272983;gnomADv4_1_AF_joint_XX=0.271214;gnomADv4_1_AF_joint_XY=0.274833;gnomADv4_1_AN_grpmax_joint=41444;gnomADv4_1_AN_joint=151918;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6086;gnomADv4_1_nhomalt_joint_XX=3116;gnomADv4_1_nhomalt_joint_XY=2970;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27640087 chr22_27640087_T_TTTTTG T TTTTTG 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.434;CADDIndel_Rawscore=-0.228676;CSQ=TTTTG|intergenic_variant|MODIFIER|||||||||||||||rs71194727|||||||||||||||||||||chr22:g.27640102_27640106dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTTG;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=66035;gnomADv4_1_AC_joint_XX=33486;gnomADv4_1_AC_joint_XY=32549;gnomADv4_1_AF_grpmax_joint=0.548041;gnomADv4_1_AF_joint=0.436895;gnomADv4_1_AF_joint_XX=0.432815;gnomADv4_1_AF_joint_XY=0.441175;gnomADv4_1_AN_grpmax_joint=67734;gnomADv4_1_AN_joint=151146;gnomADv4_1_AN_joint_XX=77368;gnomADv4_1_AN_joint_XY=73778;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16327;gnomADv4_1_nhomalt_joint_XX=8241;gnomADv4_1_nhomalt_joint_XY=8086;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27640135 chr22_27640135_G_T G T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.916;CADD_Rawscore=-0.040426;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs134011|||||||||||||||||||||chr22:g.27640135G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=138074;gnomADv4_1_AC_joint_XX=70311;gnomADv4_1_AC_joint_XY=67763;gnomADv4_1_AF_grpmax_joint=0.999806;gnomADv4_1_AF_joint=0.907283;gnomADv4_1_AF_joint_XX=0.904019;gnomADv4_1_AF_joint_XY=0.910695;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152184;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64189;gnomADv4_1_nhomalt_joint_XX=32555;gnomADv4_1_nhomalt_joint_XY=31634;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27640186 chr22_27640186_T_C T C 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.466;CADD_Rawscore=-0.210862;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs6005536|||||||||||||||||||||chr22:g.27640186T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=29064;gnomADv4_1_AC_joint_XX=14740;gnomADv4_1_AC_joint_XY=14324;gnomADv4_1_AF_grpmax_joint=0.250104;gnomADv4_1_AF_joint=0.191367;gnomADv4_1_AF_joint_XX=0.189777;gnomADv4_1_AF_joint_XY=0.19303;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=151876;gnomADv4_1_AN_joint_XX=77670;gnomADv4_1_AN_joint_XY=74206;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2932;gnomADv4_1_nhomalt_joint_XX=1491;gnomADv4_1_nhomalt_joint_XY=1441;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27640243 chr22_27640243_T_C T C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.156;CADD_Rawscore=0.019766;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs113157403|||||||||||||||||||||chr22:g.27640243T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=29499;gnomADv4_1_AC_joint_XX=14947;gnomADv4_1_AC_joint_XY=14552;gnomADv4_1_AF_grpmax_joint=0.251043;gnomADv4_1_AF_joint=0.194277;gnomADv4_1_AF_joint_XX=0.192487;gnomADv4_1_AF_joint_XY=0.19615;gnomADv4_1_AN_grpmax_joint=4792;gnomADv4_1_AN_joint=151840;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74188;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2990;gnomADv4_1_nhomalt_joint_XX=1511;gnomADv4_1_nhomalt_joint_XY=1479;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27640508 chr22_27640508_T_G T G 47 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=2.815;CADD_Rawscore=0.25642;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs134012|||||||||||||||||||||chr22:g.27640508T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=100284;gnomADv4_1_AC_joint_XX=51103;gnomADv4_1_AC_joint_XY=49181;gnomADv4_1_AF_grpmax_joint=0.889577;gnomADv4_1_AF_joint=0.673988;gnomADv4_1_AF_joint_XX=0.666758;gnomADv4_1_AF_joint_XY=0.681668;gnomADv4_1_AN_grpmax_joint=5008;gnomADv4_1_AN_joint=148792;gnomADv4_1_AN_joint_XX=76644;gnomADv4_1_AN_joint_XY=72148;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34501;gnomADv4_1_nhomalt_joint_XX=17327;gnomADv4_1_nhomalt_joint_XY=17174;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27640553 chr22_27640553_C_CTTTT;chr22_27640553_C_CTTT C CTTTT 16 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=16;CADDIndel_PHREDscore=1.579;CADDIndel_Rawscore=0.101662;CSQ=TTTT|intergenic_variant|MODIFIER|||||||||||||||rs5844779|||||||||||||||||||||chr22:g.27640572_27640575dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33074;gnomADv4_1_AC_joint_XX=18776;gnomADv4_1_AC_joint_XY=14298;gnomADv4_1_AF_grpmax_joint=0.617233;gnomADv4_1_AF_joint=0.394226;gnomADv4_1_AF_joint_XX=0.396654;gnomADv4_1_AF_joint_XY=0.391083;gnomADv4_1_AN_grpmax_joint=2414;gnomADv4_1_AN_joint=83896;gnomADv4_1_AN_joint_XX=47336;gnomADv4_1_AN_joint_XY=36560;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10075;gnomADv4_1_nhomalt_joint_XX=5682;gnomADv4_1_nhomalt_joint_XY=4393;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27640553 chr22_27640553_C_CTTTT;chr22_27640553_C_CTTT C CTTT 16 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=13;CADDIndel_PHREDscore=1.609;CADDIndel_Rawscore=0.106607;CSQ=TTT|intergenic_variant|MODIFIER|||||||||||||||rs5844779|||||||||||||||||||||chr22:g.27640573_27640575dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=11401;gnomADv4_1_AC_joint_XX=6018;gnomADv4_1_AC_joint_XY=5383;gnomADv4_1_AF_grpmax_joint=0.304551;gnomADv4_1_AF_joint=0.136047;gnomADv4_1_AF_joint_XX=0.12723;gnomADv4_1_AF_joint_XY=0.147471;gnomADv4_1_AN_grpmax_joint=21356;gnomADv4_1_AN_joint=83802;gnomADv4_1_AN_joint_XX=47300;gnomADv4_1_AN_joint_XY=36502;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2598;gnomADv4_1_nhomalt_joint_XX=1309;gnomADv4_1_nhomalt_joint_XY=1289;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27640659 chr22_27640659_G_C G C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.853;CADD_Rawscore=-0.058766;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs2092191|||||||||||||||||||||chr22:g.27640659G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35333;gnomADv4_1_AC_joint_XX=18421;gnomADv4_1_AC_joint_XY=16912;gnomADv4_1_AF_grpmax_joint=0.300128;gnomADv4_1_AF_joint=0.243948;gnomADv4_1_AF_joint_XX=0.246;gnomADv4_1_AF_joint_XY=0.241752;gnomADv4_1_AN_grpmax_joint=4688;gnomADv4_1_AN_joint=144838;gnomADv4_1_AN_joint_XX=74882;gnomADv4_1_AN_joint_XY=69956;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4273;gnomADv4_1_nhomalt_joint_XX=2246;gnomADv4_1_nhomalt_joint_XY=2027;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27640705 chr22_27640705_C_T C T 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=12.19;CADD_Rawscore=1.19949;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs140845231|||||||||||||||||||||chr22:g.27640705C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=5535;gnomADv4_1_AC_joint_XX=2829;gnomADv4_1_AC_joint_XY=2706;gnomADv4_1_AF_grpmax_joint=0.0488489;gnomADv4_1_AF_joint=0.0365825;gnomADv4_1_AF_joint_XX=0.0365579;gnomADv4_1_AF_joint_XY=0.0366081;gnomADv4_1_AN_grpmax_joint=67760;gnomADv4_1_AN_joint=151302;gnomADv4_1_AN_joint_XX=77384;gnomADv4_1_AN_joint_XY=73918;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=125;gnomADv4_1_nhomalt_joint_XX=73;gnomADv4_1_nhomalt_joint_XY=52;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27640870 chr22_27640870_T_C T C 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=3.513;CADD_Rawscore=0.321909;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs134013|||||||||||||||||||||chr22:g.27640870T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=54734;gnomADv4_1_AC_joint_XX=28630;gnomADv4_1_AC_joint_XY=26104;gnomADv4_1_AF_grpmax_joint=0.424297;gnomADv4_1_AF_joint=0.360092;gnomADv4_1_AF_joint_XX=0.368516;gnomADv4_1_AF_joint_XY=0.351285;gnomADv4_1_AN_grpmax_joint=41412;gnomADv4_1_AN_joint=152000;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10373;gnomADv4_1_nhomalt_joint_XX=5549;gnomADv4_1_nhomalt_joint_XY=4824;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27641723 chr22_27641723_G_A G A 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.982;CADD_Rawscore=0.272784;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs16985231|||||||||||||||||||||chr22:g.27641723G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=7797;gnomADv4_1_AC_joint_XX=4055;gnomADv4_1_AC_joint_XY=3742;gnomADv4_1_AF_grpmax_joint=0.137793;gnomADv4_1_AF_joint=0.0512475;gnomADv4_1_AF_joint_XX=0.0521423;gnomADv4_1_AF_joint_XY=0.0503119;gnomADv4_1_AN_grpmax_joint=41468;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=431;gnomADv4_1_nhomalt_joint_XX=233;gnomADv4_1_nhomalt_joint_XY=198;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27641893 chr22_27641893_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.006;CADD_Rawscore=-1.44188;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs909697|||||||||||||||||||||chr22:g.27641893A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=137985;gnomADv4_1_AC_joint_XX=70647;gnomADv4_1_AC_joint_XY=67338;gnomADv4_1_AF_grpmax_joint=0.983119;gnomADv4_1_AF_joint=0.907247;gnomADv4_1_AF_joint_XX=0.908713;gnomADv4_1_AF_joint_XY=0.905714;gnomADv4_1_AN_grpmax_joint=68006;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=63402;gnomADv4_1_nhomalt_joint_XX=32522;gnomADv4_1_nhomalt_joint_XY=30880;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27641999 chr22_27641999_C_T C T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.716;CADD_Rawscore=0.524738;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs73880600|||||||||||||||||||||chr22:g.27641999C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=146119;gnomADv4_1_AC_joint_XX=74617;gnomADv4_1_AC_joint_XY=71502;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.959731;gnomADv4_1_AF_joint_XX=0.958964;gnomADv4_1_AF_joint_XY=0.960532;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=152250;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70419;gnomADv4_1_nhomalt_joint_XX=35916;gnomADv4_1_nhomalt_joint_XY=34503;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27642641 chr22_27642641_A_G A G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.032;CADD_Rawscore=-0.926007;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs84510|||||||||||||||||||||chr22:g.27642641A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=28824;gnomADv4_1_AC_joint_XX=14079;gnomADv4_1_AC_joint_XY=14745;gnomADv4_1_AF_grpmax_joint=0.351121;gnomADv4_1_AF_joint=0.189367;gnomADv4_1_AF_joint_XX=0.180931;gnomADv4_1_AF_joint_XY=0.198191;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152212;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3182;gnomADv4_1_nhomalt_joint_XX=1473;gnomADv4_1_nhomalt_joint_XY=1709;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27642757 chr22_27642757_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=4.94;CADD_Rawscore=0.450293;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs134017|||||||||||||||||||||chr22:g.27642757T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=144917;gnomADv4_1_AC_joint_XX=73963;gnomADv4_1_AC_joint_XY=70954;gnomADv4_1_AF_grpmax_joint=0.999412;gnomADv4_1_AF_joint=0.951723;gnomADv4_1_AF_joint_XX=0.950608;gnomADv4_1_AF_joint_XY=0.952889;gnomADv4_1_AN_grpmax_joint=68034;gnomADv4_1_AN_joint=152268;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=69379;gnomADv4_1_nhomalt_joint_XX=35362;gnomADv4_1_nhomalt_joint_XY=34017;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27643236 chr22_27643236_T_G T G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.793;CADD_Rawscore=-0.077261;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs84511|||||||||||||||||||||chr22:g.27643236T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=49199;gnomADv4_1_AC_joint_XX=25660;gnomADv4_1_AC_joint_XY=23539;gnomADv4_1_AF_grpmax_joint=0.520823;gnomADv4_1_AF_joint=0.323461;gnomADv4_1_AF_joint_XX=0.330015;gnomADv4_1_AF_joint_XY=0.316606;gnomADv4_1_AN_grpmax_joint=41492;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9194;gnomADv4_1_nhomalt_joint_XX=4883;gnomADv4_1_nhomalt_joint_XY=4311;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27643310 chr22_27643310_C_CAA;chr22_27643310_C_CA C CAA 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=2.054;CADDIndel_Rawscore=0.170949;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||rs3044370|||||||||||||||||||||chr22:g.27643315_27643316dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=73583;gnomADv4_1_AC_joint_XX=37145;gnomADv4_1_AC_joint_XY=36438;gnomADv4_1_AF_grpmax_joint=0.598295;gnomADv4_1_AF_joint=0.484922;gnomADv4_1_AF_joint_XX=0.47887;gnomADv4_1_AF_joint_XY=0.49125;gnomADv4_1_AN_grpmax_joint=67898;gnomADv4_1_AN_joint=151742;gnomADv4_1_AN_joint_XX=77568;gnomADv4_1_AN_joint_XY=74174;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=20040;gnomADv4_1_nhomalt_joint_XX=10025;gnomADv4_1_nhomalt_joint_XY=10015;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27643310 chr22_27643310_C_CAA;chr22_27643310_C_CA C CA 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=2.087;CADDIndel_Rawscore=0.175212;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs3044370|||||||||||||||||||||chr22:g.27643316dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=29997;gnomADv4_1_AC_joint_XX=15288;gnomADv4_1_AC_joint_XY=14709;gnomADv4_1_AF_grpmax_joint=0.258503;gnomADv4_1_AF_joint=0.197614;gnomADv4_1_AF_joint_XX=0.19698;gnomADv4_1_AF_joint_XY=0.198277;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151796;gnomADv4_1_AN_joint_XX=77612;gnomADv4_1_AN_joint_XY=74184;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3121;gnomADv4_1_nhomalt_joint_XX=1609;gnomADv4_1_nhomalt_joint_XY=1512;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27643459 chr22_27643459_C_CA C CA 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.896;CADDIndel_Rawscore=-0.045994;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs134018|||||||||||||||||||||chr22:g.27643471dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=16100;gnomADv4_1_AC_joint_XX=8185;gnomADv4_1_AC_joint_XY=7915;gnomADv4_1_AF_grpmax_joint=0.285331;gnomADv4_1_AF_joint=0.118346;gnomADv4_1_AF_joint_XX=0.116076;gnomADv4_1_AF_joint_XY=0.120788;gnomADv4_1_AN_grpmax_joint=4840;gnomADv4_1_AN_joint=136042;gnomADv4_1_AN_joint_XX=70514;gnomADv4_1_AN_joint_XY=65528;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1360;gnomADv4_1_nhomalt_joint_XX=709;gnomADv4_1_nhomalt_joint_XY=651;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27643705 chr22_27643705_C_T C T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.074;CADD_Rawscore=-0.693202;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs134019|||||||||||||||||||||chr22:g.27643705C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=124707;gnomADv4_1_AC_joint_XX=63652;gnomADv4_1_AC_joint_XY=61055;gnomADv4_1_AF_grpmax_joint=0.959104;gnomADv4_1_AF_joint=0.820646;gnomADv4_1_AF_joint_XX=0.819286;gnomADv4_1_AF_joint_XY=0.822068;gnomADv4_1_AN_grpmax_joint=68002;gnomADv4_1_AN_joint=151962;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=53523;gnomADv4_1_nhomalt_joint_XX=27329;gnomADv4_1_nhomalt_joint_XY=26194;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27643884 chr22_27643884_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=3.447;CADD_Rawscore=0.315878;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs974871359|||||||||||||||||||||chr22:g.27643884G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=19;gnomADv4_1_AC_joint_XX=8;gnomADv4_1_AC_joint_XY=11;gnomADv4_1_AF_grpmax_joint=0.000385951;gnomADv4_1_AF_joint=0.000124836;gnomADv4_1_AF_joint_XX=0.000102836;gnomADv4_1_AF_joint_XY=0.000147838;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152200;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27645007 chr22_27645007_A_G A G 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.133;CADD_Rawscore=-0.535009;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs6005539|||||||||||||||||||||chr22:g.27645007A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=18763;gnomADv4_1_AC_joint_XX=9520;gnomADv4_1_AC_joint_XY=9243;gnomADv4_1_AF_grpmax_joint=0.227891;gnomADv4_1_AF_joint=0.123322;gnomADv4_1_AF_joint_XX=0.122434;gnomADv4_1_AF_joint_XY=0.124251;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1437;gnomADv4_1_nhomalt_joint_XX=737;gnomADv4_1_nhomalt_joint_XY=700;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27645814 chr22_27645814_A_T A T 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=2.89;CADD_Rawscore=0.263815;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs16985253|||||||||||||||||||||chr22:g.27645814A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=8899;gnomADv4_1_AC_joint_XX=4647;gnomADv4_1_AC_joint_XY=4252;gnomADv4_1_AF_grpmax_joint=0.157667;gnomADv4_1_AF_joint=0.0584653;gnomADv4_1_AF_joint_XX=0.0597331;gnomADv4_1_AF_joint_XY=0.0571398;gnomADv4_1_AN_grpmax_joint=41518;gnomADv4_1_AN_joint=152210;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=566;gnomADv4_1_nhomalt_joint_XX=300;gnomADv4_1_nhomalt_joint_XY=266;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27645829 chr22_27645829_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=5.312;CADD_Rawscore=0.48544;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs134020|||||||||||||||||||||chr22:g.27645829T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=145284;gnomADv4_1_AC_joint_XX=74151;gnomADv4_1_AC_joint_XY=71133;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.954171;gnomADv4_1_AF_joint_XX=0.952877;gnomADv4_1_AF_joint_XY=0.955524;gnomADv4_1_AN_grpmax_joint=5186;gnomADv4_1_AN_joint=152262;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=69667;gnomADv4_1_nhomalt_joint_XX=35498;gnomADv4_1_nhomalt_joint_XY=34169;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27646073 chr22_27646073_G_A G A 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.235;CADD_Rawscore=-0.384728;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs134021|||||||||||||||||||||chr22:g.27646073G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=45376;gnomADv4_1_AC_joint_XX=22868;gnomADv4_1_AC_joint_XY=22508;gnomADv4_1_AF_grpmax_joint=0.471801;gnomADv4_1_AF_joint=0.298507;gnomADv4_1_AF_joint_XX=0.294198;gnomADv4_1_AF_joint_XY=0.303016;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=152010;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7199;gnomADv4_1_nhomalt_joint_XX=3611;gnomADv4_1_nhomalt_joint_XY=3588;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27646550 chr22_27646550_T_C T C 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.321;CADD_Rawscore=0.203668;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs134022|||||||||||||||||||||chr22:g.27646550T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=151719;gnomADv4_1_AC_joint_XX=77542;gnomADv4_1_AC_joint_XY=74177;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.996512;gnomADv4_1_AF_joint_XX=0.996453;gnomADv4_1_AF_joint_XY=0.996574;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152250;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75597;gnomADv4_1_nhomalt_joint_XX=38633;gnomADv4_1_nhomalt_joint_XY=36964;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27646562 chr22_27646562_C_T C T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=7.856;CADD_Rawscore=0.75273;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs134023|||||||||||||||||||||chr22:g.27646562C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=47787;gnomADv4_1_AC_joint_XX=24215;gnomADv4_1_AC_joint_XY=23572;gnomADv4_1_AF_grpmax_joint=0.503497;gnomADv4_1_AF_joint=0.314492;gnomADv4_1_AF_joint_XX=0.311559;gnomADv4_1_AF_joint_XY=0.317562;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=151950;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7895;gnomADv4_1_nhomalt_joint_XX=3997;gnomADv4_1_nhomalt_joint_XY=3898;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27646691 chr22_27646691_T_G T G 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=0.105;CADD_Rawscore=-0.597507;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs11703211|||||||||||||||||||||chr22:g.27646691T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=17469;gnomADv4_1_AC_joint_XX=8919;gnomADv4_1_AC_joint_XY=8550;gnomADv4_1_AF_grpmax_joint=0.22449;gnomADv4_1_AF_joint=0.114763;gnomADv4_1_AF_joint_XX=0.114661;gnomADv4_1_AF_joint_XY=0.11487;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152218;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1257;gnomADv4_1_nhomalt_joint_XX=648;gnomADv4_1_nhomalt_joint_XY=609;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27646848 chr22_27646848_T_C T C 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.705;CADD_Rawscore=-0.107162;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs6005541|||||||||||||||||||||chr22:g.27646848T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=19851;gnomADv4_1_AC_joint_XX=10024;gnomADv4_1_AC_joint_XY=9827;gnomADv4_1_AF_grpmax_joint=0.278345;gnomADv4_1_AF_joint=0.13047;gnomADv4_1_AF_joint_XX=0.128866;gnomADv4_1_AF_joint_XY=0.132147;gnomADv4_1_AN_grpmax_joint=41506;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2005;gnomADv4_1_nhomalt_joint_XX=1033;gnomADv4_1_nhomalt_joint_XY=972;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27647170 chr22_27647170_CT_C CT C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.054;CADDIndel_Rawscore=-0.778629;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs111931555|||||||||||||||||||||chr22:g.27647183del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=27170;gnomADv4_1_AC_joint_XX=14136;gnomADv4_1_AC_joint_XY=13034;gnomADv4_1_AF_grpmax_joint=0.253906;gnomADv4_1_AF_joint=0.189077;gnomADv4_1_AF_joint_XX=0.190713;gnomADv4_1_AF_joint_XY=0.187335;gnomADv4_1_AN_grpmax_joint=256;gnomADv4_1_AN_joint=143698;gnomADv4_1_AN_joint_XX=74122;gnomADv4_1_AN_joint_XY=69576;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2549;gnomADv4_1_nhomalt_joint_XX=1310;gnomADv4_1_nhomalt_joint_XY=1239;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27647242 chr22_27647242_A_C A C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.193;CADD_Rawscore=0.02814;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs134024|||||||||||||||||||||chr22:g.27647242A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=58555;gnomADv4_1_AC_joint_XX=29512;gnomADv4_1_AC_joint_XY=29043;gnomADv4_1_AF_grpmax_joint=0.664235;gnomADv4_1_AF_joint=0.389215;gnomADv4_1_AF_joint_XX=0.383024;gnomADv4_1_AF_joint_XY=0.395714;gnomADv4_1_AN_grpmax_joint=5072;gnomADv4_1_AN_joint=150444;gnomADv4_1_AN_joint_XX=77050;gnomADv4_1_AN_joint_XY=73394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11853;gnomADv4_1_nhomalt_joint_XX=5882;gnomADv4_1_nhomalt_joint_XY=5971;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27648090 chr22_27648090_G_T G T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.299;CADD_Rawscore=-0.323132;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs134025|||||||||||||||||||||chr22:g.27648090G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=58927;gnomADv4_1_AC_joint_XX=30423;gnomADv4_1_AC_joint_XY=28504;gnomADv4_1_AF_grpmax_joint=0.484782;gnomADv4_1_AF_joint=0.387882;gnomADv4_1_AF_joint_XX=0.391565;gnomADv4_1_AF_joint_XY=0.384027;gnomADv4_1_AN_grpmax_joint=67944;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=12506;gnomADv4_1_nhomalt_joint_XX=6602;gnomADv4_1_nhomalt_joint_XY=5904;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27648269 chr22_27648269_G_A G A 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=2.681;CADD_Rawscore=0.242836;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs55952601|||||||||||||||||||||chr22:g.27648269G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26986;gnomADv4_1_AC_joint_XX=13899;gnomADv4_1_AC_joint_XY=13087;gnomADv4_1_AF_grpmax_joint=0.234694;gnomADv4_1_AF_joint=0.17805;gnomADv4_1_AF_joint_XX=0.179259;gnomADv4_1_AF_joint_XY=0.176784;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151564;gnomADv4_1_AN_joint_XX=77536;gnomADv4_1_AN_joint_XY=74028;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2514;gnomADv4_1_nhomalt_joint_XX=1281;gnomADv4_1_nhomalt_joint_XY=1233;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27648358 chr22_27648358_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.662;CADD_Rawscore=-0.123109;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs9613498|||||||||||||||||||||chr22:g.27648358G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=64328;gnomADv4_1_AC_joint_XX=32552;gnomADv4_1_AC_joint_XY=31776;gnomADv4_1_AF_grpmax_joint=0.479592;gnomADv4_1_AF_joint=0.423908;gnomADv4_1_AF_joint_XX=0.419539;gnomADv4_1_AF_joint_XY=0.428479;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151750;gnomADv4_1_AN_joint_XX=77590;gnomADv4_1_AN_joint_XY=74160;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=13891;gnomADv4_1_nhomalt_joint_XX=6990;gnomADv4_1_nhomalt_joint_XY=6901;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27648627 chr22_27648627_A_C A C 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.265;CADD_Rawscore=-0.353898;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs6005543|||||||||||||||||||||chr22:g.27648627A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=18928;gnomADv4_1_AC_joint_XX=9741;gnomADv4_1_AC_joint_XY=9187;gnomADv4_1_AF_grpmax_joint=0.234694;gnomADv4_1_AF_joint=0.124368;gnomADv4_1_AF_joint_XX=0.125228;gnomADv4_1_AF_joint_XY=0.123468;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1424;gnomADv4_1_nhomalt_joint_XX=733;gnomADv4_1_nhomalt_joint_XY=691;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27649059 chr22_27649059_G_T G T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.441;CADD_Rawscore=-0.224774;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs77490755|||||||||||||||||||||chr22:g.27649059G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=144627;gnomADv4_1_AC_joint_XX=73830;gnomADv4_1_AC_joint_XY=70797;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.954004;gnomADv4_1_AF_joint_XX=0.952571;gnomADv4_1_AF_joint_XY=0.955502;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=151600;gnomADv4_1_AN_joint_XX=77506;gnomADv4_1_AN_joint_XY=74094;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=69365;gnomADv4_1_nhomalt_joint_XX=35352;gnomADv4_1_nhomalt_joint_XY=34013;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27649373 chr22_27649373_CATGGATGG_C;chr22_27649373_CATGGATGGATGG_C;chr22_27649373_CATGGATGGATGGATGGATGGATGG_C CATGGATGG C 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=35;CADDIndel_PHREDscore=4.417;CADDIndel_Rawscore=0.402399;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs5844783|||||||||||||||||||||chr22:g.27649425_27649432del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=25198;gnomADv4_1_AC_joint_XX=12878;gnomADv4_1_AC_joint_XY=12320;gnomADv4_1_AF_grpmax_joint=0.338451;gnomADv4_1_AF_joint=0.181067;gnomADv4_1_AF_joint_XX=0.178737;gnomADv4_1_AF_joint_XY=0.183568;gnomADv4_1_AN_grpmax_joint=4364;gnomADv4_1_AN_joint=139164;gnomADv4_1_AN_joint_XX=72050;gnomADv4_1_AN_joint_XY=67114;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2952;gnomADv4_1_nhomalt_joint_XX=1497;gnomADv4_1_nhomalt_joint_XY=1455;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27649373 chr22_27649373_CATGGATGG_C;chr22_27649373_CATGGATGGATGG_C;chr22_27649373_CATGGATGGATGGATGGATGGATGG_C CATGGATGGATGG C 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=35;CADDIndel_PHREDscore=4.206;CADDIndel_Rawscore=0.383518;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs5844783|||||||||||||||||||||chr22:g.27649421_27649432del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=31303;gnomADv4_1_AC_joint_XX=16378;gnomADv4_1_AC_joint_XY=14925;gnomADv4_1_AF_grpmax_joint=0.276456;gnomADv4_1_AF_joint=0.224829;gnomADv4_1_AF_joint_XX=0.227163;gnomADv4_1_AF_joint_XY=0.222323;gnomADv4_1_AN_grpmax_joint=3950;gnomADv4_1_AN_joint=139230;gnomADv4_1_AN_joint_XX=72098;gnomADv4_1_AN_joint_XY=67132;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3646;gnomADv4_1_nhomalt_joint_XX=1923;gnomADv4_1_nhomalt_joint_XY=1723;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27649373 chr22_27649373_CATGGATGG_C;chr22_27649373_CATGGATGGATGG_C;chr22_27649373_CATGGATGGATGGATGGATGGATGG_C CATGGATGGATGGATGGATGGATGG C 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=30;CADDIndel_PHREDscore=3.894;CADDIndel_Rawscore=0.355786;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs5844783|||||||||||||||||||||chr22:g.27649409_27649432del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=16226;gnomADv4_1_AC_joint_XX=8385;gnomADv4_1_AC_joint_XY=7841;gnomADv4_1_AF_grpmax_joint=0.226619;gnomADv4_1_AF_joint=0.116352;gnomADv4_1_AF_joint_XX=0.116097;gnomADv4_1_AF_joint_XY=0.116626;gnomADv4_1_AN_grpmax_joint=278;gnomADv4_1_AN_joint=139456;gnomADv4_1_AN_joint_XX=72224;gnomADv4_1_AN_joint_XY=67232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1147;gnomADv4_1_nhomalt_joint_XX=591;gnomADv4_1_nhomalt_joint_XY=556;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27650044 chr22_27650044_G_T G T 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.209;CADD_Rawscore=-0.415764;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs147969778|||||||||||||||||||||chr22:g.27650044G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=9412;gnomADv4_1_AC_joint_XX=4895;gnomADv4_1_AC_joint_XY=4517;gnomADv4_1_AF_grpmax_joint=0.170711;gnomADv4_1_AF_joint=0.0618673;gnomADv4_1_AF_joint_XX=0.0629452;gnomADv4_1_AF_joint_XY=0.0607401;gnomADv4_1_AN_grpmax_joint=41462;gnomADv4_1_AN_joint=152132;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=679;gnomADv4_1_nhomalt_joint_XX=339;gnomADv4_1_nhomalt_joint_XY=340;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27650309 chr22_27650309_G_T G T 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=0.217;CADD_Rawscore=-0.405592;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5752603|||||||||||||||||||||chr22:g.27650309G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=61850;gnomADv4_1_AC_joint_XX=31995;gnomADv4_1_AC_joint_XY=29855;gnomADv4_1_AF_grpmax_joint=0.500604;gnomADv4_1_AF_joint=0.408542;gnomADv4_1_AF_joint_XX=0.413223;gnomADv4_1_AF_joint_XY=0.403642;gnomADv4_1_AN_grpmax_joint=67924;gnomADv4_1_AN_joint=151392;gnomADv4_1_AN_joint_XX=77428;gnomADv4_1_AN_joint_XY=73964;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13515;gnomADv4_1_nhomalt_joint_XX=7127;gnomADv4_1_nhomalt_joint_XY=6388;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27650380 chr22_27650380_G_GTGGGAAAGCAAGCATGACTCCCAGGTTTC G GTGGGAAAGCAAGCATGACTCCCAGGTTTC 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.391;CADDIndel_Rawscore=-0.25517;CSQ=TGGGAAAGCAAGCATGACTCCCAGGTTTC|intergenic_variant|MODIFIER|||||||||||||||rs138944229|||||||||||||||||||||chr22:g.27650383_27650411dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGGGAAAGCAAGCATGACTCCCAGGTTTC;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=9150;gnomADv4_1_AC_joint_XX=4759;gnomADv4_1_AC_joint_XY=4391;gnomADv4_1_AF_grpmax_joint=0.166464;gnomADv4_1_AF_joint=0.0602616;gnomADv4_1_AF_joint_XX=0.0613384;gnomADv4_1_AF_joint_XY=0.0591365;gnomADv4_1_AN_grpmax_joint=41174;gnomADv4_1_AN_joint=151838;gnomADv4_1_AN_joint_XX=77586;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=644;gnomADv4_1_nhomalt_joint_XX=321;gnomADv4_1_nhomalt_joint_XY=323;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27650476 chr22_27650476_T_C T C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.033;CADD_Rawscore=-0.911402;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs926335|||||||||||||||||||||chr22:g.27650476T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=65589;gnomADv4_1_AC_joint_XX=33591;gnomADv4_1_AC_joint_XY=31998;gnomADv4_1_AF_grpmax_joint=0.51747;gnomADv4_1_AF_joint=0.432577;gnomADv4_1_AF_joint_XX=0.433231;gnomADv4_1_AF_joint_XY=0.431892;gnomADv4_1_AN_grpmax_joint=67946;gnomADv4_1_AN_joint=151624;gnomADv4_1_AN_joint_XX=77536;gnomADv4_1_AN_joint_XY=74088;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15140;gnomADv4_1_nhomalt_joint_XX=7821;gnomADv4_1_nhomalt_joint_XY=7319;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27650614 chr22_27650614_C_T C T 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=14.85;CADD_Rawscore=1.61757;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs8135014|||||||||||||||||||||chr22:g.27650614C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=17198;gnomADv4_1_AC_joint_XX=8811;gnomADv4_1_AC_joint_XY=8387;gnomADv4_1_AF_grpmax_joint=0.217687;gnomADv4_1_AF_joint=0.11306;gnomADv4_1_AF_joint_XX=0.113301;gnomADv4_1_AF_joint_XY=0.112807;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1220;gnomADv4_1_nhomalt_joint_XX=628;gnomADv4_1_nhomalt_joint_XY=592;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27650659 chr22_27650659_C_T C T 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=15.88;CADD_Rawscore=1.81698;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762296|||||||||||||||||||||chr22:g.27650659C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=32421;gnomADv4_1_AC_joint_XX=16735;gnomADv4_1_AC_joint_XY=15686;gnomADv4_1_AF_grpmax_joint=0.295918;gnomADv4_1_AF_joint=0.213229;gnomADv4_1_AF_joint_XX=0.215313;gnomADv4_1_AF_joint_XY=0.211049;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3703;gnomADv4_1_nhomalt_joint_XX=1902;gnomADv4_1_nhomalt_joint_XY=1801;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27651445 chr22_27651445_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.013;CADD_Rawscore=-1.17312;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs73162349|||||||||||||||||||||chr22:g.27651445T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26081;gnomADv4_1_AC_joint_XX=13398;gnomADv4_1_AC_joint_XY=12683;gnomADv4_1_AF_grpmax_joint=0.227891;gnomADv4_1_AF_joint=0.171556;gnomADv4_1_AF_joint_XX=0.17237;gnomADv4_1_AF_joint_XY=0.170704;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152026;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2324;gnomADv4_1_nhomalt_joint_XX=1171;gnomADv4_1_nhomalt_joint_XY=1153;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27651889 chr22_27651889_A_G A G 62 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=62;CADD_PHREDscore=0.516;CADD_Rawscore=-0.185371;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs134027|||||||||||||||||||||chr22:g.27651889A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=145295;gnomADv4_1_AC_joint_XX=74157;gnomADv4_1_AC_joint_XY=71138;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.953905;gnomADv4_1_AF_joint_XX=0.952587;gnomADv4_1_AF_joint_XY=0.955283;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152316;gnomADv4_1_AN_joint_XX=77848;gnomADv4_1_AN_joint_XY=74468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=69701;gnomADv4_1_nhomalt_joint_XX=35521;gnomADv4_1_nhomalt_joint_XY=34180;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27651929 chr22_27651929_T_C T C 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=4.52;CADD_Rawscore=0.411684;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs74898066|||||||||||||||||||||chr22:g.27651929T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=17258;gnomADv4_1_AC_joint_XX=8823;gnomADv4_1_AC_joint_XY=8435;gnomADv4_1_AF_grpmax_joint=0.212329;gnomADv4_1_AF_joint=0.113352;gnomADv4_1_AF_joint_XX=0.113374;gnomADv4_1_AF_joint_XY=0.113328;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152252;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1227;gnomADv4_1_nhomalt_joint_XX=627;gnomADv4_1_nhomalt_joint_XY=600;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27652502 chr22_27652502_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.384;CADD_Rawscore=0.06692;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs134028|||||||||||||||||||||chr22:g.27652502G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=129522;gnomADv4_1_AC_joint_XX=66193;gnomADv4_1_AC_joint_XY=63329;gnomADv4_1_AF_grpmax_joint=0.960972;gnomADv4_1_AF_joint=0.85129;gnomADv4_1_AF_joint_XX=0.85116;gnomADv4_1_AF_joint_XY=0.851425;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152148;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=56532;gnomADv4_1_nhomalt_joint_XX=28921;gnomADv4_1_nhomalt_joint_XY=27611;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27652856 chr22_27652856_C_T C T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.32;CADD_Rawscore=-0.305434;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs73162352|||||||||||||||||||||chr22:g.27652856C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=25505;gnomADv4_1_AC_joint_XX=13106;gnomADv4_1_AC_joint_XY=12399;gnomADv4_1_AF_grpmax_joint=0.231293;gnomADv4_1_AF_joint=0.167573;gnomADv4_1_AF_joint_XX=0.168505;gnomADv4_1_AF_joint_XY=0.166599;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152202;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2231;gnomADv4_1_nhomalt_joint_XX=1137;gnomADv4_1_nhomalt_joint_XY=1094;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27652985 chr22_27652985_C_A C A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.215;CADD_Rawscore=-0.407418;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs134029|||||||||||||||||||||chr22:g.27652985C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=61331;gnomADv4_1_AC_joint_XX=31681;gnomADv4_1_AC_joint_XY=29650;gnomADv4_1_AF_grpmax_joint=0.48887;gnomADv4_1_AF_joint=0.403594;gnomADv4_1_AF_joint_XX=0.407808;gnomADv4_1_AF_joint_XY=0.399187;gnomADv4_1_AN_grpmax_joint=67926;gnomADv4_1_AN_joint=151962;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13201;gnomADv4_1_nhomalt_joint_XX=6971;gnomADv4_1_nhomalt_joint_XY=6230;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27653127 chr22_27653127_C_T C T 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=6.115;CADD_Rawscore=0.564869;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs72617280|||||||||||||||||||||chr22:g.27653127C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=4157;gnomADv4_1_AC_joint_XX=1836;gnomADv4_1_AC_joint_XY=2321;gnomADv4_1_AF_grpmax_joint=0.239282;gnomADv4_1_AF_joint=0.0273005;gnomADv4_1_AF_joint_XX=0.0235905;gnomADv4_1_AF_joint_XY=0.0311795;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152268;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=355;gnomADv4_1_nhomalt_joint_XX=172;gnomADv4_1_nhomalt_joint_XY=183;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27653488 chr22_27653488_T_C T C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=3.412;CADD_Rawscore=0.312723;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs134030|||||||||||||||||||||chr22:g.27653488T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15408;gnomADv4_1_AC_joint_XX=7796;gnomADv4_1_AC_joint_XY=7612;gnomADv4_1_AF_grpmax_joint=0.257552;gnomADv4_1_AF_joint=0.101219;gnomADv4_1_AF_joint_XX=0.100231;gnomADv4_1_AF_joint_XY=0.102251;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152224;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1254;gnomADv4_1_nhomalt_joint_XX=643;gnomADv4_1_nhomalt_joint_XY=611;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27654067 chr22_27654067_T_A T A 43 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.06;CADD_Rawscore=-0.751374;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs56967557|||||||||||||||||||||chr22:g.27654067T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=133863;gnomADv4_1_AC_joint_XX=69457;gnomADv4_1_AC_joint_XY=64406;gnomADv4_1_AF_grpmax_joint=0.999789;gnomADv4_1_AF_joint=0.941173;gnomADv4_1_AF_joint_XX=0.94082;gnomADv4_1_AF_joint_XY=0.941553;gnomADv4_1_AN_grpmax_joint=4746;gnomADv4_1_AN_joint=142230;gnomADv4_1_AN_joint_XX=73826;gnomADv4_1_AN_joint_XY=68404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=63515;gnomADv4_1_nhomalt_joint_XX=32927;gnomADv4_1_nhomalt_joint_XY=30588;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27654080 chr22_27654080_C_T C T 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.66;CADD_Rawscore=0.114676;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs134031|||||||||||||||||||||chr22:g.27654080C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=83835;gnomADv4_1_AC_joint_XX=44013;gnomADv4_1_AC_joint_XY=39822;gnomADv4_1_AF_grpmax_joint=0.761261;gnomADv4_1_AF_joint=0.639874;gnomADv4_1_AF_joint_XX=0.639482;gnomADv4_1_AF_joint_XY=0.640307;gnomADv4_1_AN_grpmax_joint=222;gnomADv4_1_AN_joint=131018;gnomADv4_1_AN_joint_XX=68826;gnomADv4_1_AN_joint_XY=62192;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=26589;gnomADv4_1_nhomalt_joint_XX=14045;gnomADv4_1_nhomalt_joint_XY=12544;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27654101 chr22_27654101_C_CAA C CAA 39 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=39;CADDIndel_PHREDscore=1.663;CADDIndel_Rawscore=0.115199;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||rs35358240|||||||||||||||||||||chr22:g.27654119_27654120dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=68873;gnomADv4_1_AC_joint_XX=38791;gnomADv4_1_AC_joint_XY=30082;gnomADv4_1_AF_grpmax_joint=0.920881;gnomADv4_1_AF_joint=0.809585;gnomADv4_1_AF_joint_XX=0.815005;gnomADv4_1_AF_joint_XY=0.8027;gnomADv4_1_AN_grpmax_joint=49748;gnomADv4_1_AN_joint=85072;gnomADv4_1_AN_joint_XX=47596;gnomADv4_1_AN_joint_XY=37476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=29648;gnomADv4_1_nhomalt_joint_XX=16765;gnomADv4_1_nhomalt_joint_XY=12883;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27654568 chr22_27654568_A_C A C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.076;CADD_Rawscore=0.281694;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs134032|||||||||||||||||||||chr22:g.27654568A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=130341;gnomADv4_1_AC_joint_XX=66619;gnomADv4_1_AC_joint_XY=63722;gnomADv4_1_AF_grpmax_joint=0.961385;gnomADv4_1_AF_joint=0.856211;gnomADv4_1_AF_joint_XX=0.856417;gnomADv4_1_AF_joint_XY=0.855995;gnomADv4_1_AN_grpmax_joint=68030;gnomADv4_1_AN_joint=152230;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=57126;gnomADv4_1_nhomalt_joint_XX=29225;gnomADv4_1_nhomalt_joint_XY=27901;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27654734 chr22_27654734_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.15;CADD_Rawscore=-0.502373;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs134033|||||||||||||||||||||chr22:g.27654734G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=129935;gnomADv4_1_AC_joint_XX=66435;gnomADv4_1_AC_joint_XY=63500;gnomADv4_1_AF_grpmax_joint=0.961325;gnomADv4_1_AF_joint=0.853847;gnomADv4_1_AF_joint_XX=0.854184;gnomADv4_1_AF_joint_XY=0.853495;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152176;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=56857;gnomADv4_1_nhomalt_joint_XX=29103;gnomADv4_1_nhomalt_joint_XY=27754;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27654876 chr22_27654876_C_CT C CT 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=30;CADDIndel_PHREDscore=0.508;CADDIndel_Rawscore=-0.188946;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs3044393|||||||||||||||||||||chr22:g.27654896dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15507;gnomADv4_1_AC_joint_XX=8235;gnomADv4_1_AC_joint_XY=7272;gnomADv4_1_AF_grpmax_joint=0.277366;gnomADv4_1_AF_joint=0.152652;gnomADv4_1_AF_joint_XX=0.151057;gnomADv4_1_AF_joint_XY=0.1545;gnomADv4_1_AN_grpmax_joint=3508;gnomADv4_1_AN_joint=101584;gnomADv4_1_AN_joint_XX=54516;gnomADv4_1_AN_joint_XY=47068;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1661;gnomADv4_1_nhomalt_joint_XX=875;gnomADv4_1_nhomalt_joint_XY=786;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27654879 chr22_27654879_T_TTC T TTC 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADDIndel_PHREDscore=0.286;CADDIndel_Rawscore=-0.334259;CSQ=TC|intergenic_variant|MODIFIER|||||||||||||||rs1555875558|||||||||||||||||||||chr22:g.27654880_27654881insCT|||||||||||||;TYPE=INDEL;VEP_Allele=TC;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=9609;gnomADv4_1_AC_joint_XX=5130;gnomADv4_1_AC_joint_XY=4479;gnomADv4_1_AF_grpmax_joint=0.211111;gnomADv4_1_AF_joint=0.0995834;gnomADv4_1_AF_joint_XX=0.10288;gnomADv4_1_AF_joint_XY=0.0960582;gnomADv4_1_AN_grpmax_joint=180;gnomADv4_1_AN_joint=96492;gnomADv4_1_AN_joint_XX=49864;gnomADv4_1_AN_joint_XY=46628;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=480;gnomADv4_1_nhomalt_joint_XX=269;gnomADv4_1_nhomalt_joint_XY=211;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27655085 chr22_27655085_G_C G C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=10.07;CADD_Rawscore=0.97735;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DZD3|enhancer||||||||||rs134034|||||||||||||||||||||chr22:g.27655085G>C|||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs134034|||||||||||||||||||||chr22:g.27655085G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENSR22_9DZD3,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=118587;gnomADv4_1_AC_joint_XX=60939;gnomADv4_1_AC_joint_XY=57648;gnomADv4_1_AF_grpmax_joint=0.878146;gnomADv4_1_AF_joint=0.780763;gnomADv4_1_AF_joint_XX=0.78469;gnomADv4_1_AF_joint_XY=0.776655;gnomADv4_1_AN_grpmax_joint=67950;gnomADv4_1_AN_joint=151886;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=74226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=47255;gnomADv4_1_nhomalt_joint_XX=24435;gnomADv4_1_nhomalt_joint_XY=22820;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27655366 chr22_27655366_AC_A AC A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=0.31;CADDIndel_Rawscore=-0.313774;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs1265659067|||||||||||||||||||||chr22:g.27655367del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=131675;gnomADv4_1_AC_joint_XX=66924;gnomADv4_1_AC_joint_XY=64751;gnomADv4_1_AF_grpmax_joint=0.980271;gnomADv4_1_AF_joint=0.865372;gnomADv4_1_AF_joint_XX=0.860715;gnomADv4_1_AF_joint_XY=0.870239;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=58887;gnomADv4_1_nhomalt_joint_XX=29802;gnomADv4_1_nhomalt_joint_XY=29085;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27655431 chr22_27655431_C_T C T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=5.922;CADD_Rawscore=0.545301;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs134036|||||||||||||||||||||chr22:g.27655431C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=131710;gnomADv4_1_AC_joint_XX=66954;gnomADv4_1_AC_joint_XY=64756;gnomADv4_1_AF_grpmax_joint=0.995927;gnomADv4_1_AF_joint=0.865795;gnomADv4_1_AF_joint_XX=0.860968;gnomADv4_1_AF_joint_XY=0.870845;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=58950;gnomADv4_1_nhomalt_joint_XX=29832;gnomADv4_1_nhomalt_joint_XY=29118;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27655844 chr22_27655844_T_TGATG;chr22_27655844_TGATG_T T TGATG 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=2.112;CADDIndel_Rawscore=0.178398;CSQ=GATG|intergenic_variant|MODIFIER|||||||||||||||rs59713838|||||||||||||||||||||chr22:g.27655878_27655881dup|||||||||||||;TYPE=INDEL;VEP_Allele=GATG;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38965;gnomADv4_1_AC_joint_XX=20506;gnomADv4_1_AC_joint_XY=18459;gnomADv4_1_AF_grpmax_joint=0.368598;gnomADv4_1_AF_joint=0.299211;gnomADv4_1_AF_joint_XX=0.303874;gnomADv4_1_AF_joint_XY=0.294195;gnomADv4_1_AN_grpmax_joint=33234;gnomADv4_1_AN_joint=130226;gnomADv4_1_AN_joint_XX=67482;gnomADv4_1_AN_joint_XY=62744;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5614;gnomADv4_1_nhomalt_joint_XX=2981;gnomADv4_1_nhomalt_joint_XY=2633;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27655844 chr22_27655844_T_TGATG;chr22_27655844_TGATG_T TGATG T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=6.343;CADDIndel_Rawscore=0.588306;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs59713838|||||||||||||||||||||chr22:g.27655878_27655881del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=6084;gnomADv4_1_AC_joint_XX=2920;gnomADv4_1_AC_joint_XY=3164;gnomADv4_1_AF_grpmax_joint=0.0839979;gnomADv4_1_AF_joint=0.0466443;gnomADv4_1_AF_joint_XX=0.0432208;gnomADv4_1_AF_joint_XY=0.0503229;gnomADv4_1_AN_grpmax_joint=3762;gnomADv4_1_AN_joint=130434;gnomADv4_1_AN_joint_XX=67560;gnomADv4_1_AN_joint_XY=62874;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=179;gnomADv4_1_nhomalt_joint_XX=86;gnomADv4_1_nhomalt_joint_XY=93;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27656156 chr22_27656156_G_A G A 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.229;CADD_Rawscore=0.192812;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5752605|||||||||||||||||||||chr22:g.27656156G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=129529;gnomADv4_1_AC_joint_XX=66581;gnomADv4_1_AC_joint_XY=62948;gnomADv4_1_AF_grpmax_joint=0.949053;gnomADv4_1_AF_joint=0.879869;gnomADv4_1_AF_joint_XX=0.881331;gnomADv4_1_AF_joint_XY=0.878328;gnomADv4_1_AN_grpmax_joint=66972;gnomADv4_1_AN_joint=147214;gnomADv4_1_AN_joint_XX=75546;gnomADv4_1_AN_joint_XY=71668;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=57669;gnomADv4_1_nhomalt_joint_XX=29679;gnomADv4_1_nhomalt_joint_XY=27990;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27657435 chr22_27657435_A_G A G 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=1.355;CADD_Rawscore=0.061437;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs73883605|||||||||||||||||||||chr22:g.27657435A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=143981;gnomADv4_1_AC_joint_XX=73491;gnomADv4_1_AC_joint_XY=70490;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.945663;gnomADv4_1_AF_joint_XX=0.944396;gnomADv4_1_AF_joint_XY=0.946988;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152254;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=68654;gnomADv4_1_nhomalt_joint_XX=35001;gnomADv4_1_nhomalt_joint_XY=33653;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27657497 chr22_27657497_G_T G T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=2.706;CADD_Rawscore=0.24543;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs151127926|||||||||||||||||||||chr22:g.27657497G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=2437;gnomADv4_1_AC_joint_XX=1306;gnomADv4_1_AC_joint_XY=1131;gnomADv4_1_AF_grpmax_joint=0.0250221;gnomADv4_1_AF_joint=0.0160019;gnomADv4_1_AF_joint_XX=0.0167823;gnomADv4_1_AF_joint_XY=0.0151865;gnomADv4_1_AN_grpmax_joint=68020;gnomADv4_1_AN_joint=152294;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74474;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=27;gnomADv4_1_nhomalt_joint_XX=18;gnomADv4_1_nhomalt_joint_XY=9;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27657842 chr22_27657842_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.578;CADD_Rawscore=-0.15685;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs6005551|||||||||||||||||||||chr22:g.27657842C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35530;gnomADv4_1_AC_joint_XX=17935;gnomADv4_1_AC_joint_XY=17595;gnomADv4_1_AF_grpmax_joint=0.314185;gnomADv4_1_AF_joint=0.233612;gnomADv4_1_AF_joint_XX=0.230699;gnomADv4_1_AF_joint_XY=0.236657;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152090;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4252;gnomADv4_1_nhomalt_joint_XX=2121;gnomADv4_1_nhomalt_joint_XY=2131;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27658231 chr22_27658231_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=2.073;CADD_Rawscore=0.173424;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs59874993|||||||||||||||||||||chr22:g.27658231A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=142403;gnomADv4_1_AC_joint_XX=72636;gnomADv4_1_AC_joint_XY=69767;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.935409;gnomADv4_1_AF_joint_XX=0.933553;gnomADv4_1_AF_joint_XY=0.937351;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152236;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67392;gnomADv4_1_nhomalt_joint_XX=34298;gnomADv4_1_nhomalt_joint_XY=33094;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27658325 chr22_27658325_A_G A G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=5.898;CADD_Rawscore=0.54292;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs134040|||||||||||||||||||||chr22:g.27658325A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70043;gnomADv4_1_AC_joint_XX=35974;gnomADv4_1_AC_joint_XY=34069;gnomADv4_1_AF_grpmax_joint=0.541563;gnomADv4_1_AF_joint=0.460767;gnomADv4_1_AF_joint_XX=0.46276;gnomADv4_1_AF_joint_XY=0.458681;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=16389;gnomADv4_1_nhomalt_joint_XX=8449;gnomADv4_1_nhomalt_joint_XY=7940;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27658859 chr22_27658859_G_A G A 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.48;CADD_Rawscore=0.084637;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs9608637|||||||||||||||||||||chr22:g.27658859G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70098;gnomADv4_1_AC_joint_XX=35586;gnomADv4_1_AC_joint_XY=34512;gnomADv4_1_AF_grpmax_joint=0.570343;gnomADv4_1_AF_joint=0.460995;gnomADv4_1_AF_joint_XX=0.457721;gnomADv4_1_AF_joint_XY=0.46442;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16885;gnomADv4_1_nhomalt_joint_XX=8554;gnomADv4_1_nhomalt_joint_XY=8331;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27659505 chr22_27659505_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.782;CADD_Rawscore=0.133435;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs2106973|||||||||||||||||||||chr22:g.27659505A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=71400;gnomADv4_1_AC_joint_XX=36279;gnomADv4_1_AC_joint_XY=35121;gnomADv4_1_AF_grpmax_joint=0.571816;gnomADv4_1_AF_joint=0.469935;gnomADv4_1_AF_joint_XX=0.466863;gnomADv4_1_AF_joint_XY=0.47315;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151936;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17346;gnomADv4_1_nhomalt_joint_XX=8805;gnomADv4_1_nhomalt_joint_XY=8541;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27659546 chr22_27659546_T_C T C 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.47;CADD_Rawscore=-0.208506;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs11703680|||||||||||||||||||||chr22:g.27659546T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=20616;gnomADv4_1_AC_joint_XX=10563;gnomADv4_1_AC_joint_XY=10053;gnomADv4_1_AF_grpmax_joint=0.207483;gnomADv4_1_AF_joint=0.135936;gnomADv4_1_AF_joint_XX=0.136205;gnomADv4_1_AF_joint_XY=0.135653;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151660;gnomADv4_1_AN_joint_XX=77552;gnomADv4_1_AN_joint_XY=74108;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1689;gnomADv4_1_nhomalt_joint_XX=870;gnomADv4_1_nhomalt_joint_XY=819;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27659556 chr22_27659556_T_C T C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.08;CADD_Rawscore=-0.671937;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs141779105|||||||||||||||||||||chr22:g.27659556T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=143989;gnomADv4_1_AC_joint_XX=73490;gnomADv4_1_AC_joint_XY=70499;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.94681;gnomADv4_1_AF_joint_XX=0.945525;gnomADv4_1_AF_joint_XY=0.948153;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=68710;gnomADv4_1_nhomalt_joint_XX=35020;gnomADv4_1_nhomalt_joint_XY=33690;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27660137 chr22_27660137_C_G C G 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=2.059;CADD_Rawscore=0.171691;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs55861974|||||||||||||||||||||chr22:g.27660137C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=2245;gnomADv4_1_AC_joint_XX=1037;gnomADv4_1_AC_joint_XY=1208;gnomADv4_1_AF_grpmax_joint=0.0473684;gnomADv4_1_AF_joint=0.0148601;gnomADv4_1_AF_joint_XX=0.0134076;gnomADv4_1_AF_joint_XY=0.0163837;gnomADv4_1_AN_grpmax_joint=4750;gnomADv4_1_AN_joint=151076;gnomADv4_1_AN_joint_XX=77344;gnomADv4_1_AN_joint_XY=73732;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=27;gnomADv4_1_nhomalt_joint_XX=9;gnomADv4_1_nhomalt_joint_XY=18;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27660252 chr22_27660252_G_A G A 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=13.28;CADD_Rawscore=1.3552;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs181048202|||||||||||||||||||||chr22:g.27660252G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=1822;gnomADv4_1_AC_joint_XX=910;gnomADv4_1_AC_joint_XY=912;gnomADv4_1_AF_grpmax_joint=0.106577;gnomADv4_1_AF_joint=0.031751;gnomADv4_1_AF_joint_XX=0.0292004;gnomADv4_1_AF_joint_XY=0.0347826;gnomADv4_1_AN_grpmax_joint=1642;gnomADv4_1_AN_joint=57384;gnomADv4_1_AN_joint_XX=31164;gnomADv4_1_AN_joint_XY=26220;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=60;gnomADv4_1_nhomalt_joint_XX=25;gnomADv4_1_nhomalt_joint_XY=35;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27660258 chr22_27660258_CA_C;chr22_27660258_C_CA CA C 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADDIndel_PHREDscore=1.118;CADDIndel_Rawscore=0.011197;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs1202075952|||||||||||||||||||||chr22:g.27660274del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=211;gnomADv4_1_AC_joint_XX=120;gnomADv4_1_AC_joint_XY=91;gnomADv4_1_AF_grpmax_joint=0.041806;gnomADv4_1_AF_joint=0.0162108;gnomADv4_1_AF_joint_XX=0.0166021;gnomADv4_1_AF_joint_XY=0.0157222;gnomADv4_1_AN_grpmax_joint=598;gnomADv4_1_AN_joint=13016;gnomADv4_1_AN_joint_XX=7228;gnomADv4_1_AN_joint_XY=5788;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4;gnomADv4_1_nhomalt_joint_XX=4;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27660258 chr22_27660258_CA_C;chr22_27660258_C_CA C CA 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=10;CADDIndel_PHREDscore=1.391;CADDIndel_Rawscore=0.068377;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs1202075952|||||||||||||||||||||chr22:g.27660274dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=113;gnomADv4_1_AC_joint_XX=62;gnomADv4_1_AC_joint_XY=51;gnomADv4_1_AF_grpmax_joint=0.0234114;gnomADv4_1_AF_joint=0.00869097;gnomADv4_1_AF_joint_XX=0.0085825;gnomADv4_1_AF_joint_XY=0.00882658;gnomADv4_1_AN_grpmax_joint=598;gnomADv4_1_AN_joint=13002;gnomADv4_1_AN_joint_XX=7224;gnomADv4_1_AN_joint_XY=5778;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11;gnomADv4_1_nhomalt_joint_XX=5;gnomADv4_1_nhomalt_joint_XY=6;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27660269 chr22_27660273_AATATATATATATATATATATAT_A;chr22_27660273_A_AATAT;chr22_27660269_AAAAAATATATATATATATATATATATATAT_A AAAAAATATATATATATATATATATATATAT A 21 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=21;CADDIndel_PHREDscore=5.703;CADDIndel_Rawscore=0.523479;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs1325907714|||||||||||||||||||||chr22:g.27660271_27660300del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=1304;gnomADv4_1_AC_joint_XX=648;gnomADv4_1_AC_joint_XY=656;gnomADv4_1_AF_grpmax_joint=0.0771114;gnomADv4_1_AF_joint=0.0224255;gnomADv4_1_AF_joint_XX=0.0203543;gnomADv4_1_AF_joint_XY=0.0249316;gnomADv4_1_AN_grpmax_joint=1634;gnomADv4_1_AN_joint=58148;gnomADv4_1_AN_joint_XX=31836;gnomADv4_1_AN_joint_XY=26312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=100;gnomADv4_1_nhomalt_joint_XX=48;gnomADv4_1_nhomalt_joint_XY=52;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27660273 chr22_27660273_AATATATATATATATATATATAT_A;chr22_27660273_A_AATAT;chr22_27660269_AAAAAATATATATATATATATATATATATAT_A AATATATATATATATATATATAT A 21 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=15;CADDIndel_PHREDscore=2.167;CADDIndel_Rawscore=0.185187;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs1168600742|||||||||||||||||||||chr22:g.27660302_27660323del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=2983;gnomADv4_1_AC_joint_XX=1703;gnomADv4_1_AC_joint_XY=1280;gnomADv4_1_AF_grpmax_joint=0.198649;gnomADv4_1_AF_joint=0.0887322;gnomADv4_1_AF_joint_XX=0.0885411;gnomADv4_1_AF_joint_XY=0.0889878;gnomADv4_1_AN_grpmax_joint=740;gnomADv4_1_AN_joint=33618;gnomADv4_1_AN_joint_XX=19234;gnomADv4_1_AN_joint_XY=14384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=296;gnomADv4_1_nhomalt_joint_XX=168;gnomADv4_1_nhomalt_joint_XY=128;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27660273 chr22_27660273_AATATATATATATATATATATAT_A;chr22_27660273_A_AATAT;chr22_27660269_AAAAAATATATATATATATATATATATATAT_A A AATAT 21 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=13;CADDIndel_PHREDscore=1.281;CADDIndel_Rawscore=0.046769;CSQ=ATAT|intergenic_variant|MODIFIER|||||||||||||||rs1168600742|||||||||||||||||||||chr22:g.27660320_27660323dup|||||||||||||;TYPE=INDEL;VEP_Allele=ATAT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=196;gnomADv4_1_AC_joint_XX=114;gnomADv4_1_AC_joint_XY=82;gnomADv4_1_AF_grpmax_joint=0.00868233;gnomADv4_1_AF_joint=0.00587178;gnomADv4_1_AF_joint_XX=0.00597359;gnomADv4_1_AF_joint_XY=0.00573587;gnomADv4_1_AN_grpmax_joint=1958;gnomADv4_1_AN_joint=33380;gnomADv4_1_AN_joint_XX=19084;gnomADv4_1_AN_joint_XY=14296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27660378 chr22_27660378_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=21.0;CADD_Rawscore=2.98575;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs134041|||||||||||||||||||||chr22:g.27660378C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=53227;gnomADv4_1_AC_joint_XX=27697;gnomADv4_1_AC_joint_XY=25530;gnomADv4_1_AF_grpmax_joint=0.496405;gnomADv4_1_AF_joint=0.386757;gnomADv4_1_AF_joint_XX=0.386139;gnomADv4_1_AF_joint_XY=0.387429;gnomADv4_1_AN_grpmax_joint=4172;gnomADv4_1_AN_joint=137624;gnomADv4_1_AN_joint_XX=71728;gnomADv4_1_AN_joint_XY=65896;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=10987;gnomADv4_1_nhomalt_joint_XX=5691;gnomADv4_1_nhomalt_joint_XY=5296;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27660563 chr22_27660563_C_A C A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.642;CADD_Rawscore=-0.130774;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs80322496|||||||||||||||||||||chr22:g.27660563C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=19996;gnomADv4_1_AC_joint_XX=10210;gnomADv4_1_AC_joint_XY=9786;gnomADv4_1_AF_grpmax_joint=0.203448;gnomADv4_1_AF_joint=0.132961;gnomADv4_1_AF_joint_XX=0.132563;gnomADv4_1_AF_joint_XY=0.133379;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=150390;gnomADv4_1_AN_joint_XX=77020;gnomADv4_1_AN_joint_XY=73370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1653;gnomADv4_1_nhomalt_joint_XX=846;gnomADv4_1_nhomalt_joint_XY=807;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27660741 chr22_27660741_A_T A T 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.064;CADD_Rawscore=-0.732514;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs134043|||||||||||||||||||||chr22:g.27660741A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=140973;gnomADv4_1_AC_joint_XX=72119;gnomADv4_1_AC_joint_XY=68854;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.935827;gnomADv4_1_AF_joint_XX=0.934232;gnomADv4_1_AF_joint_XY=0.937503;gnomADv4_1_AN_grpmax_joint=5104;gnomADv4_1_AN_joint=150640;gnomADv4_1_AN_joint_XX=77196;gnomADv4_1_AN_joint_XY=73444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=66741;gnomADv4_1_nhomalt_joint_XX=34077;gnomADv4_1_nhomalt_joint_XY=32664;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27660770 chr22_27660770_GAT_G GAT G 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.716;CADDIndel_Rawscore=-0.103367;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs575960561|||||||||||||||||||||chr22:g.27660789_27660790del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=20055;gnomADv4_1_AC_joint_XX=10198;gnomADv4_1_AC_joint_XY=9857;gnomADv4_1_AF_grpmax_joint=0.194836;gnomADv4_1_AF_joint=0.142716;gnomADv4_1_AF_joint_XX=0.13981;gnomADv4_1_AF_joint_XY=0.145852;gnomADv4_1_AN_grpmax_joint=4260;gnomADv4_1_AN_joint=140524;gnomADv4_1_AN_joint_XX=72942;gnomADv4_1_AN_joint_XY=67582;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1785;gnomADv4_1_nhomalt_joint_XX=883;gnomADv4_1_nhomalt_joint_XY=902;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27660784 chr22_27660784_TA_T TA T 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADDIndel_PHREDscore=0.093;CADDIndel_Rawscore=-0.631818;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs370960210|||||||||||||||||||||chr22:g.27660785del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=10952;gnomADv4_1_AC_joint_XX=5780;gnomADv4_1_AC_joint_XY=5172;gnomADv4_1_AF_grpmax_joint=0.194805;gnomADv4_1_AF_joint=0.135578;gnomADv4_1_AF_joint_XX=0.137777;gnomADv4_1_AF_joint_XY=0.133203;gnomADv4_1_AN_grpmax_joint=154;gnomADv4_1_AN_joint=80780;gnomADv4_1_AN_joint_XX=41952;gnomADv4_1_AN_joint_XY=38828;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=553;gnomADv4_1_nhomalt_joint_XX=309;gnomADv4_1_nhomalt_joint_XY=244;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27660786 chr22_27660788_TA_T;chr22_27660786_TATA_T TATA T 40 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=25;CADDIndel_PHREDscore=0.432;CADDIndel_Rawscore=-0.230009;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs1328957344|||||||||||||||||||||chr22:g.27660787_27660789del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=1864;gnomADv4_1_AC_joint_XX=874;gnomADv4_1_AC_joint_XY=990;gnomADv4_1_AF_grpmax_joint=0.0408875;gnomADv4_1_AF_joint=0.0202472;gnomADv4_1_AF_joint_XX=0.0184895;gnomADv4_1_AF_joint_XY=0.0221022;gnomADv4_1_AN_grpmax_joint=26952;gnomADv4_1_AN_joint=92062;gnomADv4_1_AN_joint_XX=47270;gnomADv4_1_AN_joint_XY=44792;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24;gnomADv4_1_nhomalt_joint_XX=13;gnomADv4_1_nhomalt_joint_XY=11;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27660788 chr22_27660788_TA_T;chr22_27660786_TATA_T TA T 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=40;CADDIndel_PHREDscore=0.16;CADDIndel_Rawscore=-0.485981;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs1422810811|||||||||||||||||||||chr22:g.27660789del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=21106;gnomADv4_1_AC_joint_XX=10855;gnomADv4_1_AC_joint_XY=10251;gnomADv4_1_AF_grpmax_joint=0.315848;gnomADv4_1_AF_joint=0.234777;gnomADv4_1_AF_joint_XX=0.234561;gnomADv4_1_AF_joint_XY=0.235007;gnomADv4_1_AN_grpmax_joint=2688;gnomADv4_1_AN_joint=89898;gnomADv4_1_AN_joint_XX=46278;gnomADv4_1_AN_joint_XY=43620;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1556;gnomADv4_1_nhomalt_joint_XX=780;gnomADv4_1_nhomalt_joint_XY=776;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27661133 chr22_27661133_C_T C T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.506;CADD_Rawscore=-0.189943;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs134046|||||||||||||||||||||chr22:g.27661133C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=96520;gnomADv4_1_AC_joint_XX=48953;gnomADv4_1_AC_joint_XY=47567;gnomADv4_1_AF_grpmax_joint=0.833402;gnomADv4_1_AF_joint=0.634833;gnomADv4_1_AF_joint_XX=0.63001;gnomADv4_1_AF_joint_XY=0.639875;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=31225;gnomADv4_1_nhomalt_joint_XX=15696;gnomADv4_1_nhomalt_joint_XY=15529;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27661503 chr22_27661503_C_T C T 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=2.123;CADD_Rawscore=0.179834;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs10222292|||||||||||||||||||||chr22:g.27661503C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=4445;gnomADv4_1_AC_joint_XX=2119;gnomADv4_1_AC_joint_XY=2326;gnomADv4_1_AF_grpmax_joint=0.131467;gnomADv4_1_AF_joint=0.0291797;gnomADv4_1_AF_joint_XX=0.0272204;gnomADv4_1_AF_joint_XY=0.0312273;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152332;gnomADv4_1_AN_joint_XX=77846;gnomADv4_1_AN_joint_XY=74486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=95;gnomADv4_1_nhomalt_joint_XX=45;gnomADv4_1_nhomalt_joint_XY=50;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27662277 chr22_27662277_CAA_C CAA C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=36;CADDIndel_PHREDscore=0.764;CADDIndel_Rawscore=-0.08682;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs553465410|4237|-1||||||||||||Ensembl||AA|AA||||chr22:g.27662295_27662296del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs553465410|4237|-1||||||||||||Ensembl||AA|AA||||chr22:g.27662295_27662296del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=1849;gnomADv4_1_AC_joint_XX=919;gnomADv4_1_AC_joint_XY=930;gnomADv4_1_AF_grpmax_joint=0.0776965;gnomADv4_1_AF_joint=0.021041;gnomADv4_1_AF_joint_XX=0.0194547;gnomADv4_1_AF_joint_XY=0.022885;gnomADv4_1_AN_grpmax_joint=2188;gnomADv4_1_AN_joint=87876;gnomADv4_1_AN_joint_XX=47238;gnomADv4_1_AN_joint_XY=40638;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=12;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=9;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27662611 chr22_27662611_C_T C T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.543;CADD_Rawscore=-0.172656;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs7286697|3905|-1||||||||||||Ensembl||C|C||||chr22:g.27662611C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs7286697|3905|-1||||||||||||Ensembl||C|C||||chr22:g.27662611C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7H86|enhancer||||||||||rs7286697|||||||||||||||||||||chr22:g.27662611C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000692900,ENST00000768623,ENSR22_B7H86;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000289489,ENSG00000289489,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=96453;gnomADv4_1_AC_joint_XX=48946;gnomADv4_1_AC_joint_XY=47507;gnomADv4_1_AF_grpmax_joint=0.833264;gnomADv4_1_AF_joint=0.634284;gnomADv4_1_AF_joint_XX=0.629709;gnomADv4_1_AF_joint_XY=0.639068;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=31173;gnomADv4_1_nhomalt_joint_XX=15671;gnomADv4_1_nhomalt_joint_XY=15502;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27662696 chr22_27662696_C_T C T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.227;CADD_Rawscore=0.192556;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs9620716|3820|-1||||||||||||Ensembl||C|C||||chr22:g.27662696C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs9620716|3820|-1||||||||||||Ensembl||C|C||||chr22:g.27662696C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7H86|enhancer||||||||||rs9620716|||||||||||||||||||||chr22:g.27662696C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000692900,ENST00000768623,ENSR22_B7H86;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000289489,ENSG00000289489,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=27111;gnomADv4_1_AC_joint_XX=13735;gnomADv4_1_AC_joint_XY=13376;gnomADv4_1_AF_grpmax_joint=0.228951;gnomADv4_1_AF_joint=0.178151;gnomADv4_1_AF_joint_XX=0.176606;gnomADv4_1_AF_joint_XY=0.179766;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2543;gnomADv4_1_nhomalt_joint_XX=1272;gnomADv4_1_nhomalt_joint_XY=1271;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27662772 chr22_27662772_C_T C T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=8.696;CADD_Rawscore=0.842833;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs6005554|3744|-1||||||||||||Ensembl||C|C||||chr22:g.27662772C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs6005554|3744|-1||||||||||||Ensembl||C|C||||chr22:g.27662772C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7H86|enhancer||||||||||rs6005554|||||||||||||||||||||chr22:g.27662772C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000692900,ENST00000768623,ENSR22_B7H86;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000289489,ENSG00000289489,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=4444;gnomADv4_1_AC_joint_XX=2123;gnomADv4_1_AC_joint_XY=2321;gnomADv4_1_AF_grpmax_joint=0.132251;gnomADv4_1_AF_joint=0.0291793;gnomADv4_1_AF_joint_XX=0.0272788;gnomADv4_1_AF_joint_XY=0.0311652;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152300;gnomADv4_1_AN_joint_XX=77826;gnomADv4_1_AN_joint_XY=74474;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=98;gnomADv4_1_nhomalt_joint_XX=47;gnomADv4_1_nhomalt_joint_XY=51;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27663043 chr22_27663043_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.21;CADD_Rawscore=0.190438;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs11705339|3473|-1||||||||||||Ensembl||G|G||||chr22:g.27663043G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs11705339|3473|-1||||||||||||Ensembl||G|G||||chr22:g.27663043G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7H86|enhancer||||||||||rs11705339|||||||||||||||||||||chr22:g.27663043G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000692900,ENST00000768623,ENSR22_B7H86;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000289489,ENSG00000289489,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=17876;gnomADv4_1_AC_joint_XX=9091;gnomADv4_1_AC_joint_XY=8785;gnomADv4_1_AF_grpmax_joint=0.173469;gnomADv4_1_AF_joint=0.117392;gnomADv4_1_AF_joint_XX=0.11683;gnomADv4_1_AF_joint_XY=0.11798;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152276;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1310;gnomADv4_1_nhomalt_joint_XX=671;gnomADv4_1_nhomalt_joint_XY=639;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27663744 chr22_27663744_G_A G A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.478;CADD_Rawscore=0.084247;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs9625286|2772|-1||||||||||||Ensembl||G|G||||chr22:g.27663744G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs9625286|2772|-1||||||||||||Ensembl||G|G||||chr22:g.27663744G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=26690;gnomADv4_1_AC_joint_XX=13511;gnomADv4_1_AC_joint_XY=13179;gnomADv4_1_AF_grpmax_joint=0.228648;gnomADv4_1_AF_joint=0.175377;gnomADv4_1_AF_joint_XX=0.173694;gnomADv4_1_AF_joint_XY=0.177137;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152186;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2471;gnomADv4_1_nhomalt_joint_XX=1233;gnomADv4_1_nhomalt_joint_XY=1238;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27663781 chr22_27663781_C_T C T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=3.722;CADD_Rawscore=0.340541;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134052|2735|-1||||||||||||Ensembl||C|C||||chr22:g.27663781C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134052|2735|-1||||||||||||Ensembl||C|C||||chr22:g.27663781C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=95992;gnomADv4_1_AC_joint_XX=48715;gnomADv4_1_AC_joint_XY=47277;gnomADv4_1_AF_grpmax_joint=0.832849;gnomADv4_1_AF_joint=0.631036;gnomADv4_1_AF_joint_XX=0.626559;gnomADv4_1_AF_joint_XY=0.635717;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=30933;gnomADv4_1_nhomalt_joint_XX=15560;gnomADv4_1_nhomalt_joint_XY=15373;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27664074 chr22_27664074_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.492;CADD_Rawscore=-0.197351;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134055|2442|-1||||||||||||Ensembl||T|T||||chr22:g.27664074T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134055|2442|-1||||||||||||Ensembl||T|T||||chr22:g.27664074T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=143975;gnomADv4_1_AC_joint_XX=73498;gnomADv4_1_AC_joint_XY=70477;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.947104;gnomADv4_1_AF_joint_XX=0.94575;gnomADv4_1_AF_joint_XY=0.948521;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152016;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=68722;gnomADv4_1_nhomalt_joint_XX=35028;gnomADv4_1_nhomalt_joint_XY=33694;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27664276 chr22_27664276_AT_A AT A 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.201;CADDIndel_Rawscore=-0.425443;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs34903549|2239|-1||||||||||||Ensembl||T|T||||chr22:g.27664290del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs34903549|2239|-1||||||||||||Ensembl||T|T||||chr22:g.27664290del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=98930;gnomADv4_1_AC_joint_XX=50927;gnomADv4_1_AC_joint_XY=48003;gnomADv4_1_AF_grpmax_joint=0.866728;gnomADv4_1_AF_joint=0.69175;gnomADv4_1_AF_joint_XX=0.690629;gnomADv4_1_AF_joint_XY=0.692944;gnomADv4_1_AN_grpmax_joint=4352;gnomADv4_1_AN_joint=143014;gnomADv4_1_AN_joint_XX=73740;gnomADv4_1_AN_joint_XY=69274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=34121;gnomADv4_1_nhomalt_joint_XX=17492;gnomADv4_1_nhomalt_joint_XY=16629;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27664725 chr22_27664725_C_G C G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.893;CADD_Rawscore=0.149334;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134058|1791|-1||||||||||||Ensembl||C|C||||chr22:g.27664725C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134058|1791|-1||||||||||||Ensembl||C|C||||chr22:g.27664725C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=142484;gnomADv4_1_AC_joint_XX=72654;gnomADv4_1_AC_joint_XY=69830;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.935438;gnomADv4_1_AF_joint_XX=0.933448;gnomADv4_1_AF_joint_XY=0.937517;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152318;gnomADv4_1_AN_joint_XX=77834;gnomADv4_1_AN_joint_XY=74484;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67434;gnomADv4_1_nhomalt_joint_XX=34299;gnomADv4_1_nhomalt_joint_XY=33135;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27665062 chr22_27665062_A_G A G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.435;CADD_Rawscore=-0.228248;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134061|1454|-1||||||||||||Ensembl||A|A||||chr22:g.27665062A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134061|1454|-1||||||||||||Ensembl||A|A||||chr22:g.27665062A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=142618;gnomADv4_1_AC_joint_XX=72703;gnomADv4_1_AC_joint_XY=69915;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.936797;gnomADv4_1_AF_joint_XX=0.934702;gnomADv4_1_AF_joint_XY=0.938986;gnomADv4_1_AN_grpmax_joint=5190;gnomADv4_1_AN_joint=152240;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74458;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67560;gnomADv4_1_nhomalt_joint_XX=34350;gnomADv4_1_nhomalt_joint_XY=33210;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27665906 chr22_27665906_T_C T C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.016;CADD_Rawscore=-1.13029;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134065|610|-1||||||||||||Ensembl||T|T||||chr22:g.27665906T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134065|610|-1||||||||||||Ensembl||T|T||||chr22:g.27665906T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=142385;gnomADv4_1_AC_joint_XX=72600;gnomADv4_1_AC_joint_XY=69785;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.936312;gnomADv4_1_AF_joint_XX=0.934219;gnomADv4_1_AF_joint_XY=0.9385;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67431;gnomADv4_1_nhomalt_joint_XX=34292;gnomADv4_1_nhomalt_joint_XY=33139;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27665920 chr22_27665920_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.691;CADD_Rawscore=-0.112247;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134066|596|-1||||||||||||Ensembl||A|A||||chr22:g.27665920A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134066|596|-1||||||||||||Ensembl||A|A||||chr22:g.27665920A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=142549;gnomADv4_1_AC_joint_XX=72682;gnomADv4_1_AC_joint_XY=69867;gnomADv4_1_AF_grpmax_joint=0.999807;gnomADv4_1_AF_joint=0.937329;gnomADv4_1_AF_joint_XX=0.935274;gnomADv4_1_AF_joint_XY=0.939477;gnomADv4_1_AN_grpmax_joint=5188;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67560;gnomADv4_1_nhomalt_joint_XX=34360;gnomADv4_1_nhomalt_joint_XY=33200;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27666234 chr22_27666234_G_A G A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.127;CADD_Rawscore=-0.546575;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs61611240|282|-1||||||||||||Ensembl||G|G||||chr22:g.27666234G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs61611240|282|-1||||||||||||Ensembl||G|G||||chr22:g.27666234G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=141634;gnomADv4_1_AC_joint_XX=72333;gnomADv4_1_AC_joint_XY=69301;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.936039;gnomADv4_1_AF_joint_XX=0.934149;gnomADv4_1_AF_joint_XY=0.938021;gnomADv4_1_AN_grpmax_joint=5126;gnomADv4_1_AN_joint=151312;gnomADv4_1_AN_joint_XX=77432;gnomADv4_1_AN_joint_XY=73880;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67061;gnomADv4_1_nhomalt_joint_XX=34168;gnomADv4_1_nhomalt_joint_XY=32893;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27666310 chr22_27666310_T_TAA;chr22_27666310_T_TAAAA;chr22_27666310_T_TAAA T TAA 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADDIndel_PHREDscore=0.473;CADDIndel_Rawscore=-0.20724;CSQ=AA|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134068|205|-1||||||||||||Ensembl|||||||chr22:g.27666326_27666327dup|||||||||||||,AA|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134068|205|-1||||||||||||Ensembl|||||||chr22:g.27666326_27666327dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=45538;gnomADv4_1_AC_joint_XX=24255;gnomADv4_1_AC_joint_XY=21283;gnomADv4_1_AF_grpmax_joint=0.454965;gnomADv4_1_AF_joint=0.365785;gnomADv4_1_AF_joint_XX=0.364342;gnomADv4_1_AF_joint_XY=0.367442;gnomADv4_1_AN_grpmax_joint=62240;gnomADv4_1_AN_joint=124494;gnomADv4_1_AN_joint_XX=66572;gnomADv4_1_AN_joint_XY=57922;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9409;gnomADv4_1_nhomalt_joint_XX=4986;gnomADv4_1_nhomalt_joint_XY=4423;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27666310 chr22_27666310_T_TAA;chr22_27666310_T_TAAAA;chr22_27666310_T_TAAA T TAAAA 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=28;CADDIndel_PHREDscore=0.467;CADDIndel_Rawscore=-0.210317;CSQ=AAAA|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134068|205|-1||||||||||||Ensembl|||||||chr22:g.27666324_27666327dup|||||||||||||,AAAA|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134068|205|-1||||||||||||Ensembl|||||||chr22:g.27666324_27666327dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAA,AAAA;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=45678;gnomADv4_1_AC_joint_XX=24651;gnomADv4_1_AC_joint_XY=21027;gnomADv4_1_AF_grpmax_joint=0.50085;gnomADv4_1_AF_joint=0.368104;gnomADv4_1_AF_joint_XX=0.371507;gnomADv4_1_AF_joint_XY=0.364192;gnomADv4_1_AN_grpmax_joint=3528;gnomADv4_1_AN_joint=124090;gnomADv4_1_AN_joint_XX=66354;gnomADv4_1_AN_joint_XY=57736;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=9197;gnomADv4_1_nhomalt_joint_XX=4964;gnomADv4_1_nhomalt_joint_XY=4233;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27666310 chr22_27666310_T_TAA;chr22_27666310_T_TAAAA;chr22_27666310_T_TAAA T TAAA 50 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=15;CADDIndel_PHREDscore=0.479;CADDIndel_Rawscore=-0.203875;CSQ=AAA|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134068|205|-1||||||||||||Ensembl|||||||chr22:g.27666325_27666327dup|||||||||||||,AAA|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134068|205|-1||||||||||||Ensembl|||||||chr22:g.27666325_27666327dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAA,AAA;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=12167;gnomADv4_1_AC_joint_XX=6353;gnomADv4_1_AC_joint_XY=5814;gnomADv4_1_AF_grpmax_joint=0.130369;gnomADv4_1_AF_joint=0.097661;gnomADv4_1_AF_joint_XX=0.0953761;gnomADv4_1_AF_joint_XY=0.100286;gnomADv4_1_AN_grpmax_joint=32922;gnomADv4_1_AN_joint=124584;gnomADv4_1_AN_joint_XX=66610;gnomADv4_1_AN_joint_XY=57974;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=718;gnomADv4_1_nhomalt_joint_XX=364;gnomADv4_1_nhomalt_joint_XY=354;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27666356 chr22_27666356_TG_T TG T 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.086;CADDIndel_Rawscore=-0.653065;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs1465128398|159|-1||||||||||||Ensembl||G|G||||chr22:g.27666357del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs1465128398|159|-1||||||||||||Ensembl||G|G||||chr22:g.27666357del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=139685;gnomADv4_1_AC_joint_XX=71613;gnomADv4_1_AC_joint_XY=68072;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.933798;gnomADv4_1_AF_joint_XX=0.932145;gnomADv4_1_AF_joint_XY=0.935543;gnomADv4_1_AN_grpmax_joint=5128;gnomADv4_1_AN_joint=149588;gnomADv4_1_AN_joint_XX=76826;gnomADv4_1_AN_joint_XY=72762;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=66013;gnomADv4_1_nhomalt_joint_XX=33776;gnomADv4_1_nhomalt_joint_XY=32237;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27666877 chr22_27666877_T_TCCC T TCCC 41 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=2.349;CADDIndel_Rawscore=0.206895;CSQ=CCC|non_coding_transcript_exon_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA|2/2||ENST00000692900.2:n.664_665insGGG||664-665|||||rs1289045171||-1||||||||||||Ensembl|||||||chr22:g.27666877_27666878insCCC|||||||||||||,CCC|non_coding_transcript_exon_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA|2/2||ENST00000768623.1:n.699_700insGGG||699-700|||||rs1289045171||-1||||||||||||Ensembl|||||||chr22:g.27666877_27666878insCCC|||||||||||||;TYPE=INDEL;VEP_Allele=CCC,CCC;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=142543;gnomADv4_1_AC_joint_XX=72705;gnomADv4_1_AC_joint_XY=69838;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.937277;gnomADv4_1_AF_joint_XX=0.935281;gnomADv4_1_AF_joint_XY=0.939365;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67555;gnomADv4_1_nhomalt_joint_XX=34372;gnomADv4_1_nhomalt_joint_XY=33183;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27666878 chr22_27666878_TG_T TG T 43 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=5.537;CADDIndel_Rawscore=0.507171;CSQ=-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA|2/2||ENST00000692900.2:n.663del||663|||||rs1342043136||-1||||||||||||Ensembl||G|G||||chr22:g.27666879del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA|2/2||ENST00000768623.1:n.698del||698|||||rs1342043136||-1||||||||||||Ensembl||G|G||||chr22:g.27666879del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=142537;gnomADv4_1_AC_joint_XX=72697;gnomADv4_1_AC_joint_XY=69840;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.937287;gnomADv4_1_AF_joint_XX=0.935298;gnomADv4_1_AF_joint_XY=0.939366;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67552;gnomADv4_1_nhomalt_joint_XX=34368;gnomADv4_1_nhomalt_joint_XY=33184;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27666880 chr22_27666880_A_C A C 46 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=11.56;CADD_Rawscore=1.12055;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA|2/2||ENST00000692900.2:n.662T>G||662|||||rs134075||-1||||||||||||Ensembl||A|A||||chr22:g.27666880A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA|2/2||ENST00000768623.1:n.697T>G||697|||||rs134075||-1||||||||||||Ensembl||A|A||||chr22:g.27666880A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=142544;gnomADv4_1_AC_joint_XX=72699;gnomADv4_1_AC_joint_XY=69845;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.937247;gnomADv4_1_AF_joint_XX=0.935252;gnomADv4_1_AF_joint_XY=0.939332;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67555;gnomADv4_1_nhomalt_joint_XX=34369;gnomADv4_1_nhomalt_joint_XY=33186;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27667043 chr22_27667043_T_C T C 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=2.672;CADD_Rawscore=0.241932;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA|2/2||ENST00000692900.2:n.499A>G||499|||||rs134076||-1||||||||||||Ensembl||T|T||||chr22:g.27667043T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA|2/2||ENST00000768623.1:n.534A>G||534|||||rs134076||-1||||||||||||Ensembl||T|T||||chr22:g.27667043T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=142627;gnomADv4_1_AC_joint_XX=72752;gnomADv4_1_AC_joint_XY=69875;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.937324;gnomADv4_1_AF_joint_XX=0.93526;gnomADv4_1_AF_joint_XY=0.939483;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152164;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67597;gnomADv4_1_nhomalt_joint_XX=34394;gnomADv4_1_nhomalt_joint_XY=33203;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27667264 chr22_27667264_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=15.75;CADD_Rawscore=1.78991;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||1/1|ENST00000692900.2:n.302-24C>T|||||||rs134077||-1||||||||||||Ensembl||G|G||||chr22:g.27667264G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||1/1|ENST00000768623.1:n.337-24C>T|||||||rs134077||-1||||||||||||Ensembl||G|G||||chr22:g.27667264G>A|||1||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7H8R|enhancer||||||||||rs134077|||||||||||||||||||||chr22:g.27667264G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000692900,ENST00000768623,ENSR22_B7H8R;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000289489,ENSG00000289489,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=59740;gnomADv4_1_AC_joint_XX=30428;gnomADv4_1_AC_joint_XY=29312;gnomADv4_1_AF_grpmax_joint=0.50249;gnomADv4_1_AF_joint=0.393425;gnomADv4_1_AF_joint_XX=0.391841;gnomADv4_1_AF_joint_XY=0.395083;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=151846;gnomADv4_1_AN_joint_XX=77654;gnomADv4_1_AN_joint_XY=74192;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=12337;gnomADv4_1_nhomalt_joint_XX=6266;gnomADv4_1_nhomalt_joint_XY=6071;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27667383 chr22_27667383_A_G A G 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADD_PHREDscore=20.5;CADD_Rawscore=2.84221;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||1/1|ENST00000692900.2:n.302-143T>C|||||||rs55880633||-1||||||||||||Ensembl||A|A||||chr22:g.27667383A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||1/1|ENST00000768623.1:n.337-143T>C|||||||rs55880633||-1||||||||||||Ensembl||A|A||||chr22:g.27667383A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7H8R|enhancer||||||||||rs55880633|||||||||||||||||||||chr22:g.27667383A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000692900,ENST00000768623,ENSR22_B7H8R;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000289489,ENSG00000289489,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=2268;gnomADv4_1_AC_joint_XX=1041;gnomADv4_1_AC_joint_XY=1227;gnomADv4_1_AF_grpmax_joint=0.0532532;gnomADv4_1_AF_joint=0.0148893;gnomADv4_1_AF_joint_XX=0.0133729;gnomADv4_1_AF_joint_XY=0.0164742;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152324;gnomADv4_1_AN_joint_XX=77844;gnomADv4_1_AN_joint_XY=74480;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28;gnomADv4_1_nhomalt_joint_XX=10;gnomADv4_1_nhomalt_joint_XY=18;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27667628 chr22_27667628_C_T C T 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.115;CADD_Rawscore=-0.575006;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||1/1|ENST00000692900.2:n.302-388G>A|||||||rs12484986||-1||||||||||||Ensembl||C|C||||chr22:g.27667628C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||1/1|ENST00000768623.1:n.337-388G>A|||||||rs12484986||-1||||||||||||Ensembl||C|C||||chr22:g.27667628C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7H8R|enhancer||||||||||rs12484986|||||||||||||||||||||chr22:g.27667628C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000692900,ENST00000768623,ENSR22_B7H8R;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000289489,ENSG00000289489,.;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=48906;gnomADv4_1_AC_joint_XX=24811;gnomADv4_1_AC_joint_XY=24095;gnomADv4_1_AF_grpmax_joint=0.391618;gnomADv4_1_AF_joint=0.321852;gnomADv4_1_AF_joint_XX=0.319417;gnomADv4_1_AF_joint_XY=0.324398;gnomADv4_1_AN_grpmax_joint=5130;gnomADv4_1_AN_joint=151952;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8015;gnomADv4_1_nhomalt_joint_XX=4037;gnomADv4_1_nhomalt_joint_XY=3978;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27667767 chr22_27667767_C_A C A 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.005;CADD_Rawscore=-0.016546;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||1/1|ENST00000692900.2:n.302-527G>T|||||||rs134079||-1||||||||||||Ensembl||C|C||||chr22:g.27667767C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||1/1|ENST00000768623.1:n.337-527G>T|||||||rs134079||-1||||||||||||Ensembl||C|C||||chr22:g.27667767C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=122521;gnomADv4_1_AC_joint_XX=62611;gnomADv4_1_AC_joint_XY=59910;gnomADv4_1_AF_grpmax_joint=0.88295;gnomADv4_1_AF_joint=0.80624;gnomADv4_1_AF_joint_XX=0.805742;gnomADv4_1_AF_joint_XY=0.80676;gnomADv4_1_AN_grpmax_joint=5126;gnomADv4_1_AN_joint=151966;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=49772;gnomADv4_1_nhomalt_joint_XX=25409;gnomADv4_1_nhomalt_joint_XY=24363;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27667998 chr22_27667998_TTGTG_T TTGTG T 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=14;CADDIndel_PHREDscore=0.333;CADDIndel_Rawscore=-0.295731;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||1/1|ENST00000692900.2:n.302-762_302-759del|||||||rs782325842||-1||||||||||||Ensembl||TGTG|TGTG||||chr22:g.27668041_27668044del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||1/1|ENST00000768623.1:n.337-762_337-759del|||||||rs782325842||-1||||||||||||Ensembl||TGTG|TGTG||||chr22:g.27668041_27668044del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=1816;gnomADv4_1_AC_joint_XX=963;gnomADv4_1_AC_joint_XY=853;gnomADv4_1_AF_grpmax_joint=0.104167;gnomADv4_1_AF_joint=0.0460493;gnomADv4_1_AF_joint_XX=0.0475932;gnomADv4_1_AF_joint_XY=0.0444225;gnomADv4_1_AN_grpmax_joint=48;gnomADv4_1_AN_joint=39436;gnomADv4_1_AN_joint_XX=20234;gnomADv4_1_AN_joint_XY=19202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=13;gnomADv4_1_nhomalt_joint_XX=7;gnomADv4_1_nhomalt_joint_XY=6;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27668044 chr22_27668044_G_GA G GA 24 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=24;CADDIndel_PHREDscore=0.655;CADDIndel_Rawscore=-0.125682;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||1/1|ENST00000692900.2:n.302-805_302-804insT|||||||rs55646057||-1||||||||||||Ensembl|||||||chr22:g.27668044_27668045insA|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||1/1|ENST00000768623.1:n.337-805_337-804insT|||||||rs55646057||-1||||||||||||Ensembl|||||||chr22:g.27668044_27668045insA|||||||||||||;TYPE=INDEL;VEP_Allele=A,A;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=253;gnomADv4_1_AC_joint_XX=127;gnomADv4_1_AC_joint_XY=126;gnomADv4_1_AF_grpmax_joint=0.00307287;gnomADv4_1_AF_joint=0.00175021;gnomADv4_1_AF_joint_XX=0.00170032;gnomADv4_1_AF_joint_XY=0.00180356;gnomADv4_1_AN_grpmax_joint=4556;gnomADv4_1_AN_joint=144554;gnomADv4_1_AN_joint_XX=74692;gnomADv4_1_AN_joint_XY=69862;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27668045 chr22_27668045_G_GA;chr22_27668045_G_A G GA 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=29;CADDIndel_PHREDscore=0.4;CADDIndel_Rawscore=-0.249429;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||1/1|ENST00000692900.2:n.302-806_302-805insT|||||||rs1568948453||-1||||||||||||Ensembl|||||||chr22:g.27668045_27668046insA|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||1/1|ENST00000768623.1:n.337-806_337-805insT|||||||rs1568948453||-1||||||||||||Ensembl|||||||chr22:g.27668045_27668046insA|||||||||||||;TYPE=INDEL;VEP_Allele=A,A;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=2236;gnomADv4_1_AC_joint_XX=1186;gnomADv4_1_AC_joint_XY=1050;gnomADv4_1_AF_grpmax_joint=0.0377975;gnomADv4_1_AF_joint=0.0157838;gnomADv4_1_AF_joint_XX=0.0161312;gnomADv4_1_AF_joint_XY=0.015409;gnomADv4_1_AN_grpmax_joint=38574;gnomADv4_1_AN_joint=141664;gnomADv4_1_AN_joint_XX=73522;gnomADv4_1_AN_joint_XY=68142;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=81;gnomADv4_1_nhomalt_joint_XX=39;gnomADv4_1_nhomalt_joint_XY=42;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27668045 chr22_27668045_G_GA;chr22_27668045_G_A G A 34 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=34;CADD_PHREDscore=0.412;CADD_Rawscore=-0.241386;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||1/1|ENST00000692900.2:n.302-805C>T|||||||rs141418029||-1||||||||||||Ensembl||G|G||||chr22:g.27668045G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||1/1|ENST00000768623.1:n.337-805C>T|||||||rs141418029||-1||||||||||||Ensembl||G|G||||chr22:g.27668045G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000692900,ENST00000768623;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000289489;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=86891;gnomADv4_1_AC_joint_XX=44760;gnomADv4_1_AC_joint_XY=42131;gnomADv4_1_AF_grpmax_joint=0.725756;gnomADv4_1_AF_joint=0.61521;gnomADv4_1_AF_joint_XX=0.610725;gnomADv4_1_AF_joint_XY=0.620048;gnomADv4_1_AN_grpmax_joint=4434;gnomADv4_1_AN_joint=141238;gnomADv4_1_AN_joint_XX=73290;gnomADv4_1_AN_joint_XY=67948;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=27135;gnomADv4_1_nhomalt_joint_XX=13861;gnomADv4_1_nhomalt_joint_XY=13274;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27669115 chr22_27669115_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=11.6;CADD_Rawscore=1.12548;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||1/1|ENST00000692900.2:n.301+128C>T|||||||rs12627846||-1||||||||||||Ensembl||G|G||||chr22:g.27669115G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs12627846|4964|1||||||||||||Ensembl||G|G||||chr22:g.27669115G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs12627846|4917|1||||||||||||Ensembl||G|G||||chr22:g.27669115G>A|||||||||||||,A|splice_region_variant&non_coding_transcript_exon_variant|LOW||ENSG00000289489|Transcript|ENST00000768623|lncRNA|1/2||ENST00000768623.1:n.334C>T||334|||||rs12627846||-1||||||||||||Ensembl||G|G||||chr22:g.27669115G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000692900,ENST00000733292,ENST00000733293,ENST00000768623;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000295865,ENSG00000295865,ENSG00000289489;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=18063;gnomADv4_1_AC_joint_XX=9104;gnomADv4_1_AC_joint_XY=8959;gnomADv4_1_AF_grpmax_joint=0.173469;gnomADv4_1_AF_joint=0.118664;gnomADv4_1_AF_joint_XX=0.116997;gnomADv4_1_AF_joint_XY=0.120407;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152220;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1370;gnomADv4_1_nhomalt_joint_XX=694;gnomADv4_1_nhomalt_joint_XY=676;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27669369 chr22_27669369_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=2.052;CADD_Rawscore=0.17068;CSQ=G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA|1/2||ENST00000692900.2:n.175T>C||175|||||rs134082||-1||||||||||||Ensembl||A|A||||chr22:g.27669369A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs134082|4710|1||||||||||||Ensembl||A|A||||chr22:g.27669369A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs134082|4663|1||||||||||||Ensembl||A|A||||chr22:g.27669369A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA|1/2||ENST00000768623.1:n.80T>C||80|||||rs134082||-1||||||||||||Ensembl||A|A||||chr22:g.27669369A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs134082|4802|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27669369A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DZJ6|enhancer||||||||||rs134082|||||||||||||||||||||chr22:g.27669369A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000692900,ENST00000733292,ENST00000733293,ENST00000768623,XR_007068040.1,ENSR22_9DZJ6;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000289489,ENSG00000295865,ENSG00000295865,ENSG00000289489,124905098,.;VEP_SYMBOL=.,.,.,.,LOC124905098,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=142904;gnomADv4_1_AC_joint_XX=72873;gnomADv4_1_AC_joint_XY=70031;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.938306;gnomADv4_1_AF_joint_XX=0.936406;gnomADv4_1_AF_joint_XY=0.940291;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152300;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67783;gnomADv4_1_nhomalt_joint_XX=34485;gnomADv4_1_nhomalt_joint_XY=33298;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27670623 chr22_27670623_A_G A G 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=4.281;CADD_Rawscore=0.390254;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134085|1080|-1||||||||||||Ensembl||A|A||||chr22:g.27670623A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs134085|3456|1||||||||||||Ensembl||A|A||||chr22:g.27670623A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs134085|3409|1||||||||||||Ensembl||A|A||||chr22:g.27670623A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134085|1175|-1||||||||||||Ensembl||A|A||||chr22:g.27670623A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs134085|3548|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27670623A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000692900,ENST00000733292,ENST00000733293,ENST00000768623,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000295865,ENSG00000295865,ENSG00000289489,124905098;VEP_SYMBOL=.,.,.,.,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=17046;gnomADv4_1_AC_joint_XX=8657;gnomADv4_1_AC_joint_XY=8389;gnomADv4_1_AF_grpmax_joint=0.172236;gnomADv4_1_AF_joint=0.112089;gnomADv4_1_AF_joint_XX=0.111353;gnomADv4_1_AF_joint_XY=0.112859;gnomADv4_1_AN_grpmax_joint=41478;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1133;gnomADv4_1_nhomalt_joint_XX=566;gnomADv4_1_nhomalt_joint_XY=567;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27670928 chr22_27670928_G_A G A 59 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=5.195;CADD_Rawscore=0.474224;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs11090501|1385|-1||||||||||||Ensembl||G|G||||chr22:g.27670928G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs11090501|4799|-1||||||||||||Ensembl||G|G||||chr22:g.27670928G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs11090501|3151|1||||||||||||Ensembl||G|G||||chr22:g.27670928G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs11090501|3104|1||||||||||||Ensembl||G|G||||chr22:g.27670928G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs11090501|1480|-1||||||||||||Ensembl||G|G||||chr22:g.27670928G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs11090501|4832|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27670928G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs11090501|3243|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27670928G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60593;gnomADv4_1_AC_joint_XX=30966;gnomADv4_1_AC_joint_XY=29627;gnomADv4_1_AF_grpmax_joint=0.493151;gnomADv4_1_AF_joint=0.399632;gnomADv4_1_AF_joint_XX=0.399355;gnomADv4_1_AF_joint_XY=0.399922;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151622;gnomADv4_1_AN_joint_XX=77540;gnomADv4_1_AN_joint_XY=74082;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=12931;gnomADv4_1_nhomalt_joint_XX=6623;gnomADv4_1_nhomalt_joint_XY=6308;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27671228 chr22_27671228_T_C T C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.328;CADD_Rawscore=0.056083;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs12160960|1685|-1||||||||||||Ensembl||T|T||||chr22:g.27671228T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs12160960|4499|-1||||||||||||Ensembl||T|T||||chr22:g.27671228T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs12160960|2851|1||||||||||||Ensembl||T|T||||chr22:g.27671228T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs12160960|2804|1||||||||||||Ensembl||T|T||||chr22:g.27671228T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs12160960|1780|-1||||||||||||Ensembl||T|T||||chr22:g.27671228T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs12160960|4532|-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27671228T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs12160960|2943|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27671228T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7H9D|enhancer||||||||||rs12160960|||||||||||||||||||||chr22:g.27671228T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1,ENSR22_B7H9D;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098,.;VEP_SYMBOL=.,.,.,.,.,CPMER,LOC124905098,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23327;gnomADv4_1_AC_joint_XX=11884;gnomADv4_1_AC_joint_XY=11443;gnomADv4_1_AF_grpmax_joint=0.217687;gnomADv4_1_AF_joint=0.153358;gnomADv4_1_AF_joint_XX=0.152853;gnomADv4_1_AF_joint_XY=0.153886;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152108;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1976;gnomADv4_1_nhomalt_joint_XX=1013;gnomADv4_1_nhomalt_joint_XY=963;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27671258 chr22_27671258_C_T C T 56 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.052;CADD_Rawscore=0.170733;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134086|1715|-1||||||||||||Ensembl||C|C||||chr22:g.27671258C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs134086|4469|-1||||||||||||Ensembl||C|C||||chr22:g.27671258C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs134086|2821|1||||||||||||Ensembl||C|C||||chr22:g.27671258C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs134086|2774|1||||||||||||Ensembl||C|C||||chr22:g.27671258C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134086|1810|-1||||||||||||Ensembl||C|C||||chr22:g.27671258C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs134086|4502|-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27671258C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs134086|2913|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27671258C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7H9D|enhancer||||||||||rs134086|||||||||||||||||||||chr22:g.27671258C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1,ENSR22_B7H9D;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098,.;VEP_SYMBOL=.,.,.,.,.,CPMER,LOC124905098,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58558;gnomADv4_1_AC_joint_XX=29685;gnomADv4_1_AC_joint_XY=28873;gnomADv4_1_AF_grpmax_joint=0.561823;gnomADv4_1_AF_joint=0.385524;gnomADv4_1_AF_joint_XX=0.382174;gnomADv4_1_AF_joint_XY=0.38903;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=151892;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=11883;gnomADv4_1_nhomalt_joint_XX=5991;gnomADv4_1_nhomalt_joint_XY=5892;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27671412 chr22_27671412_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.041;CADD_Rawscore=-0.858176;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134087|1869|-1||||||||||||Ensembl||G|G||||chr22:g.27671412G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs134087|4315|-1||||||||||||Ensembl||G|G||||chr22:g.27671412G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs134087|2667|1||||||||||||Ensembl||G|G||||chr22:g.27671412G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs134087|2620|1||||||||||||Ensembl||G|G||||chr22:g.27671412G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134087|1964|-1||||||||||||Ensembl||G|G||||chr22:g.27671412G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs134087|4348|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27671412G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs134087|2759|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27671412G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7H9D|enhancer||||||||||rs134087|||||||||||||||||||||chr22:g.27671412G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1,ENSR22_B7H9D;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098,.;VEP_SYMBOL=.,.,.,.,.,CPMER,LOC124905098,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=110651;gnomADv4_1_AC_joint_XX=56536;gnomADv4_1_AC_joint_XY=54115;gnomADv4_1_AF_grpmax_joint=0.86604;gnomADv4_1_AF_joint=0.728437;gnomADv4_1_AF_joint_XX=0.727844;gnomADv4_1_AF_joint_XY=0.729057;gnomADv4_1_AN_grpmax_joint=5106;gnomADv4_1_AN_joint=151902;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41126;gnomADv4_1_nhomalt_joint_XX=21018;gnomADv4_1_nhomalt_joint_XY=20108;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27671525 chr22_27671525_G_A G A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=5.942;CADD_Rawscore=0.547372;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs78260427|1982|-1||||||||||||Ensembl||G|G||||chr22:g.27671525G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs78260427|4202|-1||||||||||||Ensembl||G|G||||chr22:g.27671525G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs78260427|2554|1||||||||||||Ensembl||G|G||||chr22:g.27671525G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs78260427|2507|1||||||||||||Ensembl||G|G||||chr22:g.27671525G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs78260427|2077|-1||||||||||||Ensembl||G|G||||chr22:g.27671525G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs78260427|4235|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27671525G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs78260427|2646|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27671525G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7H9D|enhancer||||||||||rs78260427|||||||||||||||||||||chr22:g.27671525G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1,ENSR22_B7H9D;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098,.;VEP_SYMBOL=.,.,.,.,.,CPMER,LOC124905098,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20776;gnomADv4_1_AC_joint_XX=10530;gnomADv4_1_AC_joint_XY=10246;gnomADv4_1_AF_grpmax_joint=0.215753;gnomADv4_1_AF_joint=0.136585;gnomADv4_1_AF_joint_XX=0.13541;gnomADv4_1_AF_joint_XY=0.137815;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1766;gnomADv4_1_nhomalt_joint_XX=895;gnomADv4_1_nhomalt_joint_XY=871;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27671685 chr22_27671685_T_C T C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=5.006;CADD_Rawscore=0.456389;CSQ=C|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs73162377|4874|-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27671685T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs73162377|2142|-1||||||||||||Ensembl||T|T||||chr22:g.27671685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs73162377|4042|-1||||||||||||Ensembl||T|T||||chr22:g.27671685T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs73162377|2394|1||||||||||||Ensembl||T|T||||chr22:g.27671685T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs73162377|2347|1||||||||||||Ensembl||T|T||||chr22:g.27671685T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs73162377|2237|-1||||||||||||Ensembl||T|T||||chr22:g.27671685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs73162377|4075|-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27671685T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs73162377|2486|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27671685T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7H9D|enhancer||||||||||rs73162377|||||||||||||||||||||chr22:g.27671685T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1,ENSR22_B7H9D;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098,.;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5414;gnomADv4_1_AC_joint_XX=2628;gnomADv4_1_AC_joint_XY=2786;gnomADv4_1_AF_grpmax_joint=0.0601582;gnomADv4_1_AF_joint=0.03564;gnomADv4_1_AF_joint_XX=0.0338302;gnomADv4_1_AF_joint_XY=0.037534;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=151908;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=142;gnomADv4_1_nhomalt_joint_XX=63;gnomADv4_1_nhomalt_joint_XY=79;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27671920 chr22_27671920_G_A G A 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=12;CADD_PHREDscore=0.425;CADD_Rawscore=-0.233928;CSQ=A|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs117380422|4639|-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27671920G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs117380422|2377|-1||||||||||||Ensembl||G|G||||chr22:g.27671920G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs117380422|3807|-1||||||||||||Ensembl||G|G||||chr22:g.27671920G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs117380422|2159|1||||||||||||Ensembl||G|G||||chr22:g.27671920G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs117380422|2112|1||||||||||||Ensembl||G|G||||chr22:g.27671920G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs117380422|2472|-1||||||||||||Ensembl||G|G||||chr22:g.27671920G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs117380422|3840|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27671920G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs117380422|2251|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27671920G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2093;gnomADv4_1_AC_joint_XX=1117;gnomADv4_1_AC_joint_XY=976;gnomADv4_1_AF_grpmax_joint=0.0360444;gnomADv4_1_AF_joint=0.0191365;gnomADv4_1_AF_joint_XX=0.0194654;gnomADv4_1_AF_joint_XY=0.0187736;gnomADv4_1_AN_grpmax_joint=2164;gnomADv4_1_AN_joint=109372;gnomADv4_1_AN_joint_XX=57384;gnomADv4_1_AN_joint_XY=51988;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=48;gnomADv4_1_nhomalt_joint_XX=22;gnomADv4_1_nhomalt_joint_XY=26;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27672143 chr22_27672143_G_T G T 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=14;CADD_PHREDscore=1.835;CADD_Rawscore=0.141108;CSQ=T|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs186316219|4416|-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27672143G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs186316219|2600|-1||||||||||||Ensembl||G|G||||chr22:g.27672143G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs186316219|3584|-1||||||||||||Ensembl||G|G||||chr22:g.27672143G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs186316219|1936|1||||||||||||Ensembl||G|G||||chr22:g.27672143G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs186316219|1889|1||||||||||||Ensembl||G|G||||chr22:g.27672143G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs186316219|2695|-1||||||||||||Ensembl||G|G||||chr22:g.27672143G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs186316219|3617|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27672143G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs186316219|2028|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27672143G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13314;gnomADv4_1_AC_joint_XX=7147;gnomADv4_1_AC_joint_XY=6167;gnomADv4_1_AF_grpmax_joint=0.147494;gnomADv4_1_AF_joint=0.114732;gnomADv4_1_AF_joint_XX=0.118054;gnomADv4_1_AF_joint_XY=0.111109;gnomADv4_1_AN_grpmax_joint=53826;gnomADv4_1_AN_joint=116044;gnomADv4_1_AN_joint_XX=60540;gnomADv4_1_AN_joint_XY=55504;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=695;gnomADv4_1_nhomalt_joint_XX=376;gnomADv4_1_nhomalt_joint_XY=319;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27672156 chr22_27672156_G_A G A 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=27;CADD_PHREDscore=0.576;CADD_Rawscore=-0.157606;CSQ=A|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs112587262|4403|-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27672156G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs112587262|2613|-1||||||||||||Ensembl||G|G||||chr22:g.27672156G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs112587262|3571|-1||||||||||||Ensembl||G|G||||chr22:g.27672156G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs112587262|1923|1||||||||||||Ensembl||G|G||||chr22:g.27672156G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs112587262|1876|1||||||||||||Ensembl||G|G||||chr22:g.27672156G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs112587262|2708|-1||||||||||||Ensembl||G|G||||chr22:g.27672156G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs112587262|3604|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27672156G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs112587262|2015|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27672156G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39348;gnomADv4_1_AC_joint_XX=20906;gnomADv4_1_AC_joint_XY=18442;gnomADv4_1_AF_grpmax_joint=0.55123;gnomADv4_1_AF_joint=0.423124;gnomADv4_1_AF_joint_XX=0.423507;gnomADv4_1_AF_joint_XY=0.422691;gnomADv4_1_AN_grpmax_joint=2440;gnomADv4_1_AN_joint=92994;gnomADv4_1_AN_joint_XX=49364;gnomADv4_1_AN_joint_XY=43630;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9085;gnomADv4_1_nhomalt_joint_XX=4821;gnomADv4_1_nhomalt_joint_XY=4264;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27672312 chr22_27672312_G_A G A 47 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.019;CADD_Rawscore=-1.06648;CSQ=A|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs134088|4247|-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27672312G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134088|2769|-1||||||||||||Ensembl||G|G||||chr22:g.27672312G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs134088|3415|-1||||||||||||Ensembl||G|G||||chr22:g.27672312G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs134088|1767|1||||||||||||Ensembl||G|G||||chr22:g.27672312G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs134088|1720|1||||||||||||Ensembl||G|G||||chr22:g.27672312G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134088|2864|-1||||||||||||Ensembl||G|G||||chr22:g.27672312G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs134088|3448|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27672312G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs134088|1859|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27672312G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69188;gnomADv4_1_AC_joint_XX=35281;gnomADv4_1_AC_joint_XY=33907;gnomADv4_1_AF_grpmax_joint=0.537931;gnomADv4_1_AF_joint=0.457067;gnomADv4_1_AF_joint_XX=0.455638;gnomADv4_1_AF_joint_XY=0.458562;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=151374;gnomADv4_1_AN_joint_XX=77432;gnomADv4_1_AN_joint_XY=73942;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=16377;gnomADv4_1_nhomalt_joint_XX=8374;gnomADv4_1_nhomalt_joint_XY=8003;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27672324 chr22_27672324_A_G A G 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.578;CADD_Rawscore=-0.15706;CSQ=G|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs134089|4235|-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27672324A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134089|2781|-1||||||||||||Ensembl||A|A||||chr22:g.27672324A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs134089|3403|-1||||||||||||Ensembl||A|A||||chr22:g.27672324A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs134089|1755|1||||||||||||Ensembl||A|A||||chr22:g.27672324A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs134089|1708|1||||||||||||Ensembl||A|A||||chr22:g.27672324A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134089|2876|-1||||||||||||Ensembl||A|A||||chr22:g.27672324A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs134089|3436|-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27672324A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs134089|1847|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27672324A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62640;gnomADv4_1_AC_joint_XX=32059;gnomADv4_1_AC_joint_XY=30581;gnomADv4_1_AF_grpmax_joint=0.520408;gnomADv4_1_AF_joint=0.414324;gnomADv4_1_AF_joint_XX=0.414392;gnomADv4_1_AF_joint_XY=0.414253;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151186;gnomADv4_1_AN_joint_XX=77364;gnomADv4_1_AN_joint_XY=73822;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=13937;gnomADv4_1_nhomalt_joint_XX=7139;gnomADv4_1_nhomalt_joint_XY=6798;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27672362 chr22_27672362_G_A G A 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.485;CADD_Rawscore=-0.200991;CSQ=A|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs186516169|4197|-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27672362G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs186516169|2819|-1||||||||||||Ensembl||G|G||||chr22:g.27672362G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs186516169|3365|-1||||||||||||Ensembl||G|G||||chr22:g.27672362G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs186516169|1717|1||||||||||||Ensembl||G|G||||chr22:g.27672362G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs186516169|1670|1||||||||||||Ensembl||G|G||||chr22:g.27672362G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs186516169|2914|-1||||||||||||Ensembl||G|G||||chr22:g.27672362G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs186516169|3398|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27672362G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs186516169|1809|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27672362G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3713;gnomADv4_1_AC_joint_XX=1744;gnomADv4_1_AC_joint_XY=1969;gnomADv4_1_AF_grpmax_joint=0.0598827;gnomADv4_1_AF_joint=0.0244621;gnomADv4_1_AF_joint_XX=0.0224713;gnomADv4_1_AF_joint_XY=0.026545;gnomADv4_1_AN_grpmax_joint=4776;gnomADv4_1_AN_joint=151786;gnomADv4_1_AN_joint_XX=77610;gnomADv4_1_AN_joint_XY=74176;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=61;gnomADv4_1_nhomalt_joint_XX=20;gnomADv4_1_nhomalt_joint_XY=41;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27672383 chr22_27672383_A_G A G 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.027;CADD_Rawscore=-0.976822;CSQ=G|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs134090|4176|-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27672383A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134090|2840|-1||||||||||||Ensembl||A|A||||chr22:g.27672383A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs134090|3344|-1||||||||||||Ensembl||A|A||||chr22:g.27672383A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs134090|1696|1||||||||||||Ensembl||A|A||||chr22:g.27672383A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs134090|1649|1||||||||||||Ensembl||A|A||||chr22:g.27672383A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134090|2935|-1||||||||||||Ensembl||A|A||||chr22:g.27672383A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs134090|3377|-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27672383A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs134090|1788|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27672383A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57504;gnomADv4_1_AC_joint_XX=29389;gnomADv4_1_AC_joint_XY=28115;gnomADv4_1_AF_grpmax_joint=0.470174;gnomADv4_1_AF_joint=0.380761;gnomADv4_1_AF_joint_XX=0.379997;gnomADv4_1_AF_joint_XY=0.381562;gnomADv4_1_AN_grpmax_joint=67660;gnomADv4_1_AN_joint=151024;gnomADv4_1_AN_joint_XX=77340;gnomADv4_1_AN_joint_XY=73684;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11888;gnomADv4_1_nhomalt_joint_XX=6082;gnomADv4_1_nhomalt_joint_XY=5806;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27672406 chr22_27672406_G_A G A 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.618;CADD_Rawscore=-0.140181;CSQ=A|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs134091|4153|-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27672406G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134091|2863|-1||||||||||||Ensembl||G|G||||chr22:g.27672406G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs134091|3321|-1||||||||||||Ensembl||G|G||||chr22:g.27672406G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs134091|1673|1||||||||||||Ensembl||G|G||||chr22:g.27672406G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs134091|1626|1||||||||||||Ensembl||G|G||||chr22:g.27672406G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134091|2958|-1||||||||||||Ensembl||G|G||||chr22:g.27672406G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs134091|3354|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27672406G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs134091|1765|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27672406G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41986;gnomADv4_1_AC_joint_XX=21606;gnomADv4_1_AC_joint_XY=20380;gnomADv4_1_AF_grpmax_joint=0.390411;gnomADv4_1_AF_joint=0.27816;gnomADv4_1_AF_joint_XX=0.279545;gnomADv4_1_AF_joint_XY=0.276707;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=150942;gnomADv4_1_AN_joint_XX=77290;gnomADv4_1_AN_joint_XY=73652;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6195;gnomADv4_1_nhomalt_joint_XX=3200;gnomADv4_1_nhomalt_joint_XY=2995;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27672447 chr22_27672447_A_T A T 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.192;CADD_Rawscore=-0.437735;CSQ=T|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs134092|4112|-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27672447A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134092|2904|-1||||||||||||Ensembl||A|A||||chr22:g.27672447A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs134092|3280|-1||||||||||||Ensembl||A|A||||chr22:g.27672447A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs134092|1632|1||||||||||||Ensembl||A|A||||chr22:g.27672447A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs134092|1585|1||||||||||||Ensembl||A|A||||chr22:g.27672447A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134092|2999|-1||||||||||||Ensembl||A|A||||chr22:g.27672447A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs134092|3313|-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27672447A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs134092|1724|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27672447A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61350;gnomADv4_1_AC_joint_XX=31411;gnomADv4_1_AC_joint_XY=29939;gnomADv4_1_AF_grpmax_joint=0.496528;gnomADv4_1_AF_joint=0.407701;gnomADv4_1_AF_joint_XX=0.40766;gnomADv4_1_AF_joint_XY=0.407744;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=150478;gnomADv4_1_AN_joint_XX=77052;gnomADv4_1_AN_joint_XY=73426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=13454;gnomADv4_1_nhomalt_joint_XX=6902;gnomADv4_1_nhomalt_joint_XY=6552;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27672448 chr22_27672448_C_A C A 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.652;CADD_Rawscore=0.113543;CSQ=A|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs140018596|4111|-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27672448C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs140018596|2905|-1||||||||||||Ensembl||C|C||||chr22:g.27672448C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs140018596|3279|-1||||||||||||Ensembl||C|C||||chr22:g.27672448C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs140018596|1631|1||||||||||||Ensembl||C|C||||chr22:g.27672448C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs140018596|1584|1||||||||||||Ensembl||C|C||||chr22:g.27672448C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs140018596|3000|-1||||||||||||Ensembl||C|C||||chr22:g.27672448C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs140018596|3312|-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27672448C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs140018596|1723|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27672448C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4161;gnomADv4_1_AC_joint_XX=1983;gnomADv4_1_AC_joint_XY=2178;gnomADv4_1_AF_grpmax_joint=0.0599916;gnomADv4_1_AF_joint=0.02775;gnomADv4_1_AF_joint_XX=0.0258365;gnomADv4_1_AF_joint_XY=0.0297565;gnomADv4_1_AN_grpmax_joint=4734;gnomADv4_1_AN_joint=149946;gnomADv4_1_AN_joint_XX=76752;gnomADv4_1_AN_joint_XY=73194;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=76;gnomADv4_1_nhomalt_joint_XX=31;gnomADv4_1_nhomalt_joint_XY=45;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27672567 chr22_27672567_T_A T A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.991;CADD_Rawscore=0.162769;CSQ=A|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs134093|3992|-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27672567T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134093|3024|-1||||||||||||Ensembl||T|T||||chr22:g.27672567T>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs134093|3160|-1||||||||||||Ensembl||T|T||||chr22:g.27672567T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs134093|1512|1||||||||||||Ensembl||T|T||||chr22:g.27672567T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs134093|1465|1||||||||||||Ensembl||T|T||||chr22:g.27672567T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134093|3119|-1||||||||||||Ensembl||T|T||||chr22:g.27672567T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs134093|3193|-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27672567T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs134093|1604|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27672567T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24470;gnomADv4_1_AC_joint_XX=12524;gnomADv4_1_AC_joint_XY=11946;gnomADv4_1_AF_grpmax_joint=0.208904;gnomADv4_1_AF_joint=0.161822;gnomADv4_1_AF_joint_XX=0.16175;gnomADv4_1_AF_joint_XY=0.161896;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151216;gnomADv4_1_AN_joint_XX=77428;gnomADv4_1_AN_joint_XY=73788;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2206;gnomADv4_1_nhomalt_joint_XX=1140;gnomADv4_1_nhomalt_joint_XY=1066;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27672633 chr22_27672633_A_G A G 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.983;CADD_Rawscore=-0.022221;CSQ=G|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs134094|3926|-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27672633A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134094|3090|-1||||||||||||Ensembl||A|A||||chr22:g.27672633A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs134094|3094|-1||||||||||||Ensembl||A|A||||chr22:g.27672633A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs134094|1446|1||||||||||||Ensembl||A|A||||chr22:g.27672633A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs134094|1399|1||||||||||||Ensembl||A|A||||chr22:g.27672633A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134094|3185|-1||||||||||||Ensembl||A|A||||chr22:g.27672633A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs134094|3127|-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27672633A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs134094|1538|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27672633A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77743;gnomADv4_1_AC_joint_XX=39792;gnomADv4_1_AC_joint_XY=37951;gnomADv4_1_AF_grpmax_joint=0.629475;gnomADv4_1_AF_joint=0.516894;gnomADv4_1_AF_joint_XX=0.516752;gnomADv4_1_AF_joint_XY=0.517044;gnomADv4_1_AN_grpmax_joint=5028;gnomADv4_1_AN_joint=150404;gnomADv4_1_AN_joint_XX=77004;gnomADv4_1_AN_joint_XY=73400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=20290;gnomADv4_1_nhomalt_joint_XX=10414;gnomADv4_1_nhomalt_joint_XY=9876;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27672885 chr22_27672885_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=6.052;CADD_Rawscore=0.558446;CSQ=C|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs134095|3674|-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27672885T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134095|3342|-1||||||||||||Ensembl||T|T||||chr22:g.27672885T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs134095|2842|-1||||||||||||Ensembl||T|T||||chr22:g.27672885T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs134095|1194|1||||||||||||Ensembl||T|T||||chr22:g.27672885T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs134095|1147|1||||||||||||Ensembl||T|T||||chr22:g.27672885T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134095|3437|-1||||||||||||Ensembl||T|T||||chr22:g.27672885T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs134095|2875|-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27672885T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs134095|1286|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27672885T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=144070;gnomADv4_1_AC_joint_XX=73527;gnomADv4_1_AC_joint_XY=70543;gnomADv4_1_AF_grpmax_joint=0.999806;gnomADv4_1_AF_joint=0.946472;gnomADv4_1_AF_joint_XX=0.944931;gnomADv4_1_AF_joint_XY=0.948082;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152218;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=68753;gnomADv4_1_nhomalt_joint_XX=35025;gnomADv4_1_nhomalt_joint_XY=33728;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27672886 chr22_27672886_G_A G A 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.569;CADD_Rawscore=0.099859;CSQ=A|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs73162380|3673|-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27672886G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs73162380|3343|-1||||||||||||Ensembl||G|G||||chr22:g.27672886G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs73162380|2841|-1||||||||||||Ensembl||G|G||||chr22:g.27672886G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs73162380|1193|1||||||||||||Ensembl||G|G||||chr22:g.27672886G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs73162380|1146|1||||||||||||Ensembl||G|G||||chr22:g.27672886G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs73162380|3438|-1||||||||||||Ensembl||G|G||||chr22:g.27672886G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs73162380|2874|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27672886G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs73162380|1285|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27672886G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6681;gnomADv4_1_AC_joint_XX=3317;gnomADv4_1_AC_joint_XY=3364;gnomADv4_1_AF_grpmax_joint=0.122449;gnomADv4_1_AF_joint=0.0439066;gnomADv4_1_AF_joint_XX=0.0426481;gnomADv4_1_AF_joint_XY=0.0452223;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152164;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=199;gnomADv4_1_nhomalt_joint_XX=99;gnomADv4_1_nhomalt_joint_XY=100;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27673662 chr22_27673662_G_A G A 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.277;CADD_Rawscore=-0.342443;CSQ=A|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs73162382|2897|-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27673662G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs73162382|4119|-1||||||||||||Ensembl||G|G||||chr22:g.27673662G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs73162382|2065|-1||||||||||||Ensembl||G|G||||chr22:g.27673662G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs73162382|417|1||||||||||||Ensembl||G|G||||chr22:g.27673662G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs73162382|370|1||||||||||||Ensembl||G|G||||chr22:g.27673662G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs73162382|4214|-1||||||||||||Ensembl||G|G||||chr22:g.27673662G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs73162382|2098|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27673662G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs73162382|509|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27673662G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3339;gnomADv4_1_AC_joint_XX=1562;gnomADv4_1_AC_joint_XY=1777;gnomADv4_1_AF_grpmax_joint=0.059593;gnomADv4_1_AF_joint=0.0219307;gnomADv4_1_AF_joint_XX=0.0200709;gnomADv4_1_AF_joint_XY=0.0238754;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152252;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=50;gnomADv4_1_nhomalt_joint_XX=18;gnomADv4_1_nhomalt_joint_XY=32;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27673805 chr22_27673805_G_A G A 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.717;CADD_Rawscore=0.123648;CSQ=A|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs73162383|2754|-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27673805G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs73162383|4262|-1||||||||||||Ensembl||G|G||||chr22:g.27673805G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs73162383|1922|-1||||||||||||Ensembl||G|G||||chr22:g.27673805G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs73162383|274|1||||||||||||Ensembl||G|G||||chr22:g.27673805G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs73162383|227|1||||||||||||Ensembl||G|G||||chr22:g.27673805G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs73162383|4357|-1||||||||||||Ensembl||G|G||||chr22:g.27673805G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs73162383|1955|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27673805G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs73162383|366|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27673805G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3342;gnomADv4_1_AC_joint_XX=1564;gnomADv4_1_AC_joint_XY=1778;gnomADv4_1_AF_grpmax_joint=0.0595189;gnomADv4_1_AF_joint=0.0219533;gnomADv4_1_AF_joint_XX=0.0200997;gnomADv4_1_AF_joint_XY=0.0238914;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152232;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=52;gnomADv4_1_nhomalt_joint_XX=18;gnomADv4_1_nhomalt_joint_XY=34;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27674138 chr22_27674138_A_G A G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=11.08;CADD_Rawscore=1.06847;CSQ=G|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs134096|2421|-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27674138A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134096|4595|-1||||||||||||Ensembl||A|A||||chr22:g.27674138A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs134096|1589|-1||||||||||||Ensembl||A|A||||chr22:g.27674138A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA|1/2||ENST00000733292.1:n.60A>G||60|||||rs134096||1||||||||||||Ensembl||A|A||||chr22:g.27674138A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA|1/2||ENST00000733293.1:n.107A>G||107|||||rs134096||1||||||||||||Ensembl||A|A||||chr22:g.27674138A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134096|4690|-1||||||||||||Ensembl||A|A||||chr22:g.27674138A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs134096|1622|-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27674138A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs134096|33|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27674138A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72258;gnomADv4_1_AC_joint_XX=36871;gnomADv4_1_AC_joint_XY=35387;gnomADv4_1_AF_grpmax_joint=0.608055;gnomADv4_1_AF_joint=0.476976;gnomADv4_1_AF_joint_XX=0.476148;gnomADv4_1_AF_joint_XY=0.477841;gnomADv4_1_AN_grpmax_joint=5090;gnomADv4_1_AN_joint=151492;gnomADv4_1_AN_joint_XX=77436;gnomADv4_1_AN_joint_XY=74056;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17500;gnomADv4_1_nhomalt_joint_XX=8914;gnomADv4_1_nhomalt_joint_XY=8586;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27674329 chr22_27674329_A_G A G 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.681;CADD_Rawscore=0.336893;CSQ=G|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs134097|2230|-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27674329A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs134097|4786|-1||||||||||||Ensembl||A|A||||chr22:g.27674329A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs134097|1398|-1||||||||||||Ensembl||A|A||||chr22:g.27674329A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA|1/2||ENST00000733292.1:n.251A>G||251|||||rs134097||1||||||||||||Ensembl||A|A||||chr22:g.27674329A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA|1/2||ENST00000733293.1:n.298A>G||298|||||rs134097||1||||||||||||Ensembl||A|A||||chr22:g.27674329A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs134097|4881|-1||||||||||||Ensembl||A|A||||chr22:g.27674329A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs134097|1431|-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27674329A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA|1/2||XR_007068040.1:n.159A>G||159|||||rs134097||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27674329A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64272;gnomADv4_1_AC_joint_XX=32701;gnomADv4_1_AC_joint_XY=31571;gnomADv4_1_AF_grpmax_joint=0.493743;gnomADv4_1_AF_joint=0.423081;gnomADv4_1_AF_joint_XX=0.420971;gnomADv4_1_AF_joint_XY=0.42529;gnomADv4_1_AN_grpmax_joint=67920;gnomADv4_1_AN_joint=151914;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74234;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14190;gnomADv4_1_nhomalt_joint_XX=7194;gnomADv4_1_nhomalt_joint_XY=6996;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27674406 chr22_27674406_T_G T G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.745;CADD_Rawscore=-0.093206;CSQ=G|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs73883609|2153|-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27674406T>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs73883609|4863|-1||||||||||||Ensembl||T|T||||chr22:g.27674406T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs73883609|1321|-1||||||||||||Ensembl||T|T||||chr22:g.27674406T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||1/1|ENST00000733292.1:n.279+49T>G|||||||rs73883609||1||||||||||||Ensembl||T|T||||chr22:g.27674406T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||1/1|ENST00000733293.1:n.326+49T>G|||||||rs73883609||1||||||||||||Ensembl||T|T||||chr22:g.27674406T>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000768623|lncRNA||||||||||rs73883609|4958|-1||||||||||||Ensembl||T|T||||chr22:g.27674406T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs73883609|1354|-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27674406T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||1/1|XR_007068040.1:n.187+49T>G|||||||rs73883609||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27674406T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,ENST00000768623,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,ENSG00000289489,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=144801;gnomADv4_1_AC_joint_XX=73957;gnomADv4_1_AC_joint_XY=70844;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.952513;gnomADv4_1_AF_joint_XX=0.951558;gnomADv4_1_AF_joint_XY=0.953512;gnomADv4_1_AN_grpmax_joint=5136;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=69413;gnomADv4_1_nhomalt_joint_XX=35410;gnomADv4_1_nhomalt_joint_XY=34003;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27674537 chr22_27674537_T_TCCTCCCTCTCTCTCCCGCCCTC T TCCTCCCTCTCTCTCCCGCCCTC 25 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=25;CADDIndel_PHREDscore=0.652;CADDIndel_Rawscore=-0.12692;CSQ=CCTCCCTCTCTCTCCCGCCCTC|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs142848773|2021|-1||HGNC|HGNC:55992|3||||||||Ensembl|||||||chr22:g.27674547_27674548insTCTCCCGCCCTCCCTCCCTCTC|||||||||||||,CCTCCCTCTCTCTCCCGCCCTC|upstream_gene_variant|MODIFIER||ENSG00000289489|Transcript|ENST00000692900|lncRNA||||||||||rs142848773|4994|-1||||||||||||Ensembl|||||||chr22:g.27674547_27674548insTCTCCCGCCCTCCCTCCCTCTC|||||||||||||,CCTCCCTCTCTCTCCCGCCCTC|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs142848773|1189|-1||||||||||||Ensembl|||||||chr22:g.27674547_27674548insTCTCCCGCCCTCCCTCCCTCTC|||||||||||||,CCTCCCTCTCTCTCCCGCCCTC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||1/1|ENST00000733292.1:n.279+190_279+191insTCTCCCGCCCTCCCTCCCTCTC|||||||rs142848773||1||||||||||||Ensembl||||||10|chr22:g.27674547_27674548insTCTCCCGCCCTCCCTCCCTCTC|||||||||||||,CCTCCCTCTCTCTCCCGCCCTC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||1/1|ENST00000733293.1:n.326+190_326+191insTCTCCCGCCCTCCCTCCCTCTC|||||||rs142848773||1||||||||||||Ensembl||||||10|chr22:g.27674547_27674548insTCTCCCGCCCTCCCTCCCTCTC|||||||||||||,CCTCCCTCTCTCTCCCGCCCTC|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs142848773|1222|-1||EntrezGene|HGNC:55992|||||||||RefSeq|||||||chr22:g.27674547_27674548insTCTCCCGCCCTCCCTCCCTCTC|||||||||||||,CCTCCCTCTCTCTCCCGCCCTC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||1/1|XR_007068040.1:n.187+190_187+191insTCTCCCGCCCTCCCTCCCTCTC|||||||rs142848773||1||EntrezGene||||||||||RefSeq||||||10|chr22:g.27674547_27674548insTCTCCCGCCCTCCCTCCCTCTC|||||||||||||;TYPE=INDEL;VEP_Allele=CCTCCCTCTCTCTCCCGCCCTC,CCTCCCTCTCTCTCCCGCCCTC,CCTCCCTCTCTCTCCCGCCCTC,CCTCCCTCTCTCTCCCGCCCTC,CCTCCCTCTCTCTCCCGCCCTC,CCTCCCTCTCTCTCCCGCCCTC,CCTCCCTCTCTCTCCCGCCCTC;VEP_Feature=ENST00000440255,ENST00000692900,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000289489,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70253;gnomADv4_1_AC_joint_XX=36605;gnomADv4_1_AC_joint_XY=33648;gnomADv4_1_AF_grpmax_joint=0.588754;gnomADv4_1_AF_joint=0.511884;gnomADv4_1_AF_joint_XX=0.515592;gnomADv4_1_AF_joint_XY=0.50791;gnomADv4_1_AN_grpmax_joint=35852;gnomADv4_1_AN_joint=137244;gnomADv4_1_AN_joint_XX=70996;gnomADv4_1_AN_joint_XY=66248;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17822;gnomADv4_1_nhomalt_joint_XX=9356;gnomADv4_1_nhomalt_joint_XY=8466;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27674586 chr22_27674586_C_G C G 10 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=10;CADD_PHREDscore=1.11;CADD_Rawscore=0.009341;CSQ=G|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs55745301|1973|-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27674586C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs55745301|1141|-1||||||||||||Ensembl||C|C||||chr22:g.27674586C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||1/1|ENST00000733292.1:n.279+229C>G|||||||rs55745301||1||||||||||||Ensembl||C|C||||chr22:g.27674586C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||1/1|ENST00000733293.1:n.326+229C>G|||||||rs55745301||1||||||||||||Ensembl||C|C||||chr22:g.27674586C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs55745301|1174|-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27674586C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||1/1|XR_007068040.1:n.187+229C>G|||||||rs55745301||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27674586C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=3045;gnomADv4_1_AC_joint_XX=1479;gnomADv4_1_AC_joint_XY=1566;gnomADv4_1_AF_grpmax_joint=0.064459;gnomADv4_1_AF_joint=0.0256154;gnomADv4_1_AF_joint_XX=0.0241383;gnomADv4_1_AF_joint_XY=0.0271866;gnomADv4_1_AN_grpmax_joint=3956;gnomADv4_1_AN_joint=118874;gnomADv4_1_AN_joint_XX=61272;gnomADv4_1_AN_joint_XY=57602;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=43;gnomADv4_1_nhomalt_joint_XX=16;gnomADv4_1_nhomalt_joint_XY=27;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27674612 chr22_27674612_T_TTC T TTC 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADDIndel_PHREDscore=0.829;CADDIndel_Rawscore=-0.065936;CSQ=TC|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs5844785|1946|-1||HGNC|HGNC:55992|3||||||||Ensembl|||||||chr22:g.27674616_27674617dup|||||||||||||,TC|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs5844785|1114|-1||||||||||||Ensembl|||||||chr22:g.27674616_27674617dup|||||||||||||,TC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||1/1|ENST00000733292.1:n.279+259_279+260dup|||||||rs5844785||1||||||||||||Ensembl||||||5|chr22:g.27674616_27674617dup|||||||||||||,TC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||1/1|ENST00000733293.1:n.326+259_326+260dup|||||||rs5844785||1||||||||||||Ensembl||||||5|chr22:g.27674616_27674617dup|||||||||||||,TC|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs5844785|1147|-1||EntrezGene|HGNC:55992|||||||||RefSeq|||||||chr22:g.27674616_27674617dup|||||||||||||,TC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||1/1|XR_007068040.1:n.187+259_187+260dup|||||||rs5844785||1||EntrezGene||||||||||RefSeq||||||5|chr22:g.27674616_27674617dup|||||||||||||;TYPE=INDEL;VEP_Allele=TC,TC,TC,TC,TC,TC;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=75502;gnomADv4_1_AC_joint_XX=39408;gnomADv4_1_AC_joint_XY=36094;gnomADv4_1_AF_grpmax_joint=0.618476;gnomADv4_1_AF_joint=0.533169;gnomADv4_1_AF_joint_XX=0.53723;gnomADv4_1_AF_joint_XY=0.528803;gnomADv4_1_AN_grpmax_joint=37054;gnomADv4_1_AN_joint=141610;gnomADv4_1_AN_joint_XX=73354;gnomADv4_1_AN_joint_XY=68256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20638;gnomADv4_1_nhomalt_joint_XX=10837;gnomADv4_1_nhomalt_joint_XY=9801;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27674769 chr22_27674769_T_G T G 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=3.814;CADD_Rawscore=0.348715;CSQ=G|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs9306447|1790|-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27674769T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs9306447|958|-1||||||||||||Ensembl||T|T||||chr22:g.27674769T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||1/1|ENST00000733292.1:n.279+412T>G|||||||rs9306447||1||||||||||||Ensembl||T|T||||chr22:g.27674769T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||1/1|ENST00000733293.1:n.327-325T>G|||||||rs9306447||1||||||||||||Ensembl||T|T||||chr22:g.27674769T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs9306447|991|-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27674769T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||1/1|XR_007068040.1:n.187+412T>G|||||||rs9306447||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27674769T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=61396;gnomADv4_1_AC_joint_XX=31835;gnomADv4_1_AC_joint_XY=29561;gnomADv4_1_AF_grpmax_joint=0.48119;gnomADv4_1_AF_joint=0.423491;gnomADv4_1_AF_joint_XX=0.426034;gnomADv4_1_AF_joint_XY=0.420785;gnomADv4_1_AN_grpmax_joint=66242;gnomADv4_1_AN_joint=144976;gnomADv4_1_AN_joint_XX=74724;gnomADv4_1_AN_joint_XY=70252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13198;gnomADv4_1_nhomalt_joint_XX=6879;gnomADv4_1_nhomalt_joint_XY=6319;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27674780 chr22_27674780_C_T C T 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=1.745;CADD_Rawscore=0.127866;CSQ=T|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs189701086|1779|-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27674780C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs189701086|947|-1||||||||||||Ensembl||C|C||||chr22:g.27674780C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||1/1|ENST00000733292.1:n.279+423C>T|||||||rs189701086||1||||||||||||Ensembl||C|C||||chr22:g.27674780C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||1/1|ENST00000733293.1:n.327-314C>T|||||||rs189701086||1||||||||||||Ensembl||C|C||||chr22:g.27674780C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs189701086|980|-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27674780C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||1/1|XR_007068040.1:n.187+423C>T|||||||rs189701086||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27674780C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=42;gnomADv4_1_AC_joint_XX=12;gnomADv4_1_AC_joint_XY=30;gnomADv4_1_AF_grpmax_joint=0.00560166;gnomADv4_1_AF_joint=0.000285005;gnomADv4_1_AF_joint_XX=0.000158575;gnomADv4_1_AF_joint_XY=0.000418457;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=147366;gnomADv4_1_AN_joint_XX=75674;gnomADv4_1_AN_joint_XY=71692;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27675292 chr22_27675292_C_T C T 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=5.284;CADD_Rawscore=0.482758;CSQ=T|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs56108929|1267|-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27675292C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs56108929|435|-1||||||||||||Ensembl||C|C||||chr22:g.27675292C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||1/1|ENST00000733292.1:n.279+935C>T|||||||rs56108929||1||||||||||||Ensembl||C|C||||chr22:g.27675292C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA|2/2||ENST00000733293.1:n.525C>T||525|||||rs56108929||1||||||||||||Ensembl||C|C||||chr22:g.27675292C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs56108929|468|-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27675292C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||1/1|XR_007068040.1:n.187+935C>T|||||||rs56108929||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27675292C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=4036;gnomADv4_1_AC_joint_XX=1907;gnomADv4_1_AC_joint_XY=2129;gnomADv4_1_AF_grpmax_joint=0.063147;gnomADv4_1_AF_joint=0.0264934;gnomADv4_1_AF_joint_XX=0.0244983;gnomADv4_1_AF_joint_XY=0.0285779;gnomADv4_1_AN_grpmax_joint=4830;gnomADv4_1_AN_joint=152340;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74498;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=72;gnomADv4_1_nhomalt_joint_XX=23;gnomADv4_1_nhomalt_joint_XY=49;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27675510 chr22_27675510_A_G A G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=4.434;CADD_Rawscore=0.403933;CSQ=G|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs11913352|1049|-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27675510A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs11913352|217|-1||||||||||||Ensembl||A|A||||chr22:g.27675510A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||1/1|ENST00000733292.1:n.279+1153A>G|||||||rs11913352||1||||||||||||Ensembl||A|A||||chr22:g.27675510A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA|2/2||ENST00000733293.1:n.743A>G||743|||||rs11913352||1||||||||||||Ensembl||A|A||||chr22:g.27675510A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs11913352|250|-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27675510A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||1/1|XR_007068040.1:n.187+1153A>G|||||||rs11913352||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27675510A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=22913;gnomADv4_1_AC_joint_XX=11413;gnomADv4_1_AC_joint_XY=11500;gnomADv4_1_AF_grpmax_joint=0.603125;gnomADv4_1_AF_joint=0.150666;gnomADv4_1_AF_joint_XX=0.146799;gnomADv4_1_AF_joint_XY=0.154711;gnomADv4_1_AN_grpmax_joint=5120;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3344;gnomADv4_1_nhomalt_joint_XX=1678;gnomADv4_1_nhomalt_joint_XY=1666;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27675539 chr22_27675539_G_A G A 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.193;CADD_Rawscore=-0.436694;CSQ=A|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs56275083|1020|-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27675539G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs56275083|188|-1||||||||||||Ensembl||G|G||||chr22:g.27675539G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||1/1|ENST00000733292.1:n.279+1182G>A|||||||rs56275083||1||||||||||||Ensembl||G|G||||chr22:g.27675539G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA|2/2||ENST00000733293.1:n.772G>A||772|||||rs56275083||1||||||||||||Ensembl||G|G||||chr22:g.27675539G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs56275083|221|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27675539G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||1/1|XR_007068040.1:n.187+1182G>A|||||||rs56275083||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27675539G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=4033;gnomADv4_1_AC_joint_XX=1912;gnomADv4_1_AC_joint_XY=2121;gnomADv4_1_AF_grpmax_joint=0.063307;gnomADv4_1_AF_joint=0.0264956;gnomADv4_1_AF_joint_XX=0.0245771;gnomADv4_1_AF_joint_XY=0.0285012;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=69;gnomADv4_1_nhomalt_joint_XX=23;gnomADv4_1_nhomalt_joint_XY=46;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27675670 chr22_27675670_G_T G T 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=2.837;CADD_Rawscore=0.258592;CSQ=T|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs134098|889|-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27675670G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs134098|57|-1||||||||||||Ensembl||G|G||||chr22:g.27675670G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||1/1|ENST00000733292.1:n.279+1313G>T|||||||rs134098||1||||||||||||Ensembl||G|G||||chr22:g.27675670G>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA|2/2||ENST00000733293.1:n.903G>T||903|||||rs134098||1||||||||||||Ensembl||G|G||||chr22:g.27675670G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs134098|90|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27675670G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||1/1|XR_007068040.1:n.187+1313G>T|||||||rs134098||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27675670G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=26134;gnomADv4_1_AC_joint_XX=13385;gnomADv4_1_AC_joint_XY=12749;gnomADv4_1_AF_grpmax_joint=0.234694;gnomADv4_1_AF_joint=0.171744;gnomADv4_1_AF_joint_XX=0.172101;gnomADv4_1_AF_joint_XY=0.171371;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152168;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2462;gnomADv4_1_nhomalt_joint_XX=1264;gnomADv4_1_nhomalt_joint_XY=1198;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27675678 chr22_27675678_T_C T C 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.519;CADD_Rawscore=0.09137;CSQ=C|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs134099|881|-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27675678T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs134099|49|-1||||||||||||Ensembl||T|T||||chr22:g.27675678T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||1/1|ENST00000733292.1:n.279+1321T>C|||||||rs134099||1||||||||||||Ensembl||T|T||||chr22:g.27675678T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA|2/2||ENST00000733293.1:n.911T>C||911|||||rs134099||1||||||||||||Ensembl||T|T||||chr22:g.27675678T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs134099|82|-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27675678T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||1/1|XR_007068040.1:n.187+1321T>C|||||||rs134099||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27675678T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=26142;gnomADv4_1_AC_joint_XX=13393;gnomADv4_1_AC_joint_XY=12749;gnomADv4_1_AF_grpmax_joint=0.234694;gnomADv4_1_AF_joint=0.171815;gnomADv4_1_AF_joint_XX=0.172235;gnomADv4_1_AF_joint_XY=0.171376;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2463;gnomADv4_1_nhomalt_joint_XX=1266;gnomADv4_1_nhomalt_joint_XY=1197;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27675709 chr22_27675709_C_T C T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.006;CADD_Rawscore=-1.44732;CSQ=T|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs134100|850|-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27675709C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs134100|18|-1||||||||||||Ensembl||C|C||||chr22:g.27675709C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||1/1|ENST00000733292.1:n.279+1352C>T|||||||rs134100||1||||||||||||Ensembl||C|C||||chr22:g.27675709C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA|2/2||ENST00000733293.1:n.942C>T||942|||||rs134100||1||||||||||||Ensembl||C|C||||chr22:g.27675709C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs134100|51|-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27675709C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||1/1|XR_007068040.1:n.187+1352C>T|||||||rs134100||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27675709C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=23072;gnomADv4_1_AC_joint_XX=11789;gnomADv4_1_AC_joint_XY=11283;gnomADv4_1_AF_grpmax_joint=0.190634;gnomADv4_1_AF_joint=0.151576;gnomADv4_1_AF_joint_XX=0.15153;gnomADv4_1_AF_joint_XY=0.151625;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1942;gnomADv4_1_nhomalt_joint_XX=993;gnomADv4_1_nhomalt_joint_XY=949;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27675849 chr22_27675849_A_T A T 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.093;CADD_Rawscore=-0.631784;CSQ=T|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs55709834|710|-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27675849A>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA|2/2||ENST00000733137.1:n.750T>A||750|||||rs55709834||-1||||||||||||Ensembl||A|A||||chr22:g.27675849A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||1/1|ENST00000733292.1:n.279+1492A>T|||||||rs55709834||1||||||||||||Ensembl||A|A||||chr22:g.27675849A>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA|2/2||ENST00000733293.1:n.1082A>T||1082|||||rs55709834||1||||||||||||Ensembl||A|A||||chr22:g.27675849A>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA|5/5||NR_186699.1:n.1529T>A||1529|||||rs55709834||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27675849A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||1/1|XR_007068040.1:n.187+1492A>T|||||||rs55709834||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27675849A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=4035;gnomADv4_1_AC_joint_XX=1908;gnomADv4_1_AC_joint_XY=2127;gnomADv4_1_AF_grpmax_joint=0.063354;gnomADv4_1_AF_joint=0.0264875;gnomADv4_1_AF_joint_XX=0.0245124;gnomADv4_1_AF_joint_XY=0.0285511;gnomADv4_1_AN_grpmax_joint=4830;gnomADv4_1_AN_joint=152336;gnomADv4_1_AN_joint_XX=77838;gnomADv4_1_AN_joint_XY=74498;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=72;gnomADv4_1_nhomalt_joint_XX=23;gnomADv4_1_nhomalt_joint_XY=49;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27676045 chr22_27676045_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.013;CADD_Rawscore=-1.17339;CSQ=T|downstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs134101|514|-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27676045C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA|2/2||ENST00000733137.1:n.554G>A||554|||||rs134101||-1||||||||||||Ensembl||C|C||||chr22:g.27676045C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||1/1|ENST00000733292.1:n.280-1485C>T|||||||rs134101||1||||||||||||Ensembl||C|C||||chr22:g.27676045C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA|2/2||ENST00000733293.1:n.1278C>T||1278|||||rs134101||1||||||||||||Ensembl||C|C||||chr22:g.27676045C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA|5/5||NR_186699.1:n.1333G>A||1333|||||rs134101||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27676045C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||1/1|XR_007068040.1:n.188-1485C>T|||||||rs134101||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27676045C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=24672;gnomADv4_1_AC_joint_XX=12644;gnomADv4_1_AC_joint_XY=12028;gnomADv4_1_AF_grpmax_joint=0.204082;gnomADv4_1_AF_joint=0.162126;gnomADv4_1_AF_joint_XX=0.162553;gnomADv4_1_AF_joint_XY=0.16168;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152178;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2176;gnomADv4_1_nhomalt_joint_XX=1115;gnomADv4_1_nhomalt_joint_XY=1061;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27676943 chr22_27676943_A_G A G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.019;CADD_Rawscore=-0.0129;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.491-56T>C|||||||rs134103||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27676943A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-736T>C|||||||rs134103||-1||||||||||||Ensembl||A|A||||chr22:g.27676943A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||1/1|ENST00000733292.1:n.280-587A>G|||||||rs134103||1||||||||||||Ensembl||A|A||||chr22:g.27676943A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs134103|763|1||||||||||||Ensembl||A|A||||chr22:g.27676943A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.491-56T>C|||||||rs134103||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27676943A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||1/1|XR_007068040.1:n.188-587A>G|||||||rs134103||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27676943A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=28528;gnomADv4_1_AC_joint_XX=14610;gnomADv4_1_AC_joint_XY=13918;gnomADv4_1_AF_grpmax_joint=0.227891;gnomADv4_1_AF_joint=0.187408;gnomADv4_1_AF_joint_XX=0.187789;gnomADv4_1_AF_joint_XY=0.18701;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152224;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2911;gnomADv4_1_nhomalt_joint_XX=1489;gnomADv4_1_nhomalt_joint_XY=1422;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27677498 chr22_27677498_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.691;CADD_Rawscore=0.119572;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.491-611T>C|||||||rs134106||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27677498A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-1291T>C|||||||rs134106||-1||||||||||||Ensembl||A|A||||chr22:g.27677498A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||1/1|ENST00000733292.1:n.280-32A>G|||||||rs134106||1||||||||||||Ensembl||A|A||||chr22:g.27677498A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs134106|1318|1||||||||||||Ensembl||A|A||||chr22:g.27677498A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.491-611T>C|||||||rs134106||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27677498A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||1/1|XR_007068040.1:n.188-32A>G|||||||rs134106||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27677498A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=97112;gnomADv4_1_AC_joint_XX=49225;gnomADv4_1_AC_joint_XY=47887;gnomADv4_1_AF_grpmax_joint=0.992242;gnomADv4_1_AF_joint=0.639576;gnomADv4_1_AF_joint_XX=0.633657;gnomADv4_1_AF_joint_XY=0.645778;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151838;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74154;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=31591;gnomADv4_1_nhomalt_joint_XX=15870;gnomADv4_1_nhomalt_joint_XY=15721;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27677761 chr22_27677761_G_A G A 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.288;CADD_Rawscore=-0.332271;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.491-874C>T|||||||rs1003834||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27677761G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-1554C>T|||||||rs1003834||-1||||||||||||Ensembl||G|G||||chr22:g.27677761G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA|2/2||ENST00000733292.1:n.511G>A||511|||||rs1003834||1||||||||||||Ensembl||G|G||||chr22:g.27677761G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs1003834|1581|1||||||||||||Ensembl||G|G||||chr22:g.27677761G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.491-874C>T|||||||rs1003834||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27677761G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA|2/2||XR_007068040.1:n.419G>A||419|||||rs1003834||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27677761G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=13922;gnomADv4_1_AC_joint_XX=6632;gnomADv4_1_AC_joint_XY=7290;gnomADv4_1_AF_grpmax_joint=0.57232;gnomADv4_1_AF_joint=0.0915403;gnomADv4_1_AF_joint_XX=0.085321;gnomADv4_1_AF_joint_XY=0.0980419;gnomADv4_1_AN_grpmax_joint=5130;gnomADv4_1_AN_joint=152086;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1689;gnomADv4_1_nhomalt_joint_XX=807;gnomADv4_1_nhomalt_joint_XY=882;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27678489 chr22_27678489_AC_A AC A 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=1.018;CADDIndel_Rawscore=-0.013194;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.491-1603del|||||||rs134108||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27678492del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-2283del|||||||rs134108||-1||||||||||||Ensembl||C|C||||chr22:g.27678492del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs134108|702|1||||||||||||Ensembl||C|C||||chr22:g.27678492del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs134108|2310|1||||||||||||Ensembl||C|C||||chr22:g.27678492del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.491-1603del|||||||rs134108||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27678492del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs134108|704|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27678492del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=26849;gnomADv4_1_AC_joint_XX=13780;gnomADv4_1_AC_joint_XY=13069;gnomADv4_1_AF_grpmax_joint=0.234694;gnomADv4_1_AF_joint=0.176415;gnomADv4_1_AF_joint_XX=0.177139;gnomADv4_1_AF_joint_XY=0.175659;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152192;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2557;gnomADv4_1_nhomalt_joint_XX=1315;gnomADv4_1_nhomalt_joint_XY=1242;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27678554 chr22_27678554_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.575;CADD_Rawscore=0.231767;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.491-1667G>A|||||||rs5752608||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27678554C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-2347G>A|||||||rs5752608||-1||||||||||||Ensembl||C|C||||chr22:g.27678554C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs5752608|766|1||||||||||||Ensembl||C|C||||chr22:g.27678554C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs5752608|2374|1||||||||||||Ensembl||C|C||||chr22:g.27678554C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.491-1667G>A|||||||rs5752608||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27678554C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs5752608|768|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27678554C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=14076;gnomADv4_1_AC_joint_XX=6729;gnomADv4_1_AC_joint_XY=7347;gnomADv4_1_AF_grpmax_joint=0.571401;gnomADv4_1_AF_joint=0.0924763;gnomADv4_1_AF_joint_XX=0.0865043;gnomADv4_1_AF_joint_XY=0.0987182;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152212;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1705;gnomADv4_1_nhomalt_joint_XX=817;gnomADv4_1_nhomalt_joint_XY=888;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27679259 chr22_27679259_A_G A G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=3.294;CADD_Rawscore=0.302004;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.491-2372T>C|||||||rs820||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27679259A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-3052T>C|||||||rs820||-1||||||||||||Ensembl||A|A||||chr22:g.27679259A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs820|1471|1||||||||||||Ensembl||A|A||||chr22:g.27679259A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs820|3079|1||||||||||||Ensembl||A|A||||chr22:g.27679259A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.491-2372T>C|||||||rs820||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27679259A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs820|1473|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27679259A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=31207;gnomADv4_1_AC_joint_XX=15812;gnomADv4_1_AC_joint_XY=15395;gnomADv4_1_AF_grpmax_joint=0.286337;gnomADv4_1_AF_joint=0.205042;gnomADv4_1_AF_joint_XX=0.203307;gnomADv4_1_AF_joint_XY=0.206855;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3389;gnomADv4_1_nhomalt_joint_XX=1730;gnomADv4_1_nhomalt_joint_XY=1659;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27680061 chr22_27680061_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.97;CADD_Rawscore=0.159956;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.491-3174A>G|||||||rs134110||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27680061T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-3854A>G|||||||rs134110||-1||||||||||||Ensembl||T|T||||chr22:g.27680061T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs134110|2273|1||||||||||||Ensembl||T|T||||chr22:g.27680061T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs134110|3881|1||||||||||||Ensembl||T|T||||chr22:g.27680061T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.491-3174A>G|||||||rs134110||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27680061T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs134110|2275|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27680061T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=98108;gnomADv4_1_AC_joint_XX=49733;gnomADv4_1_AC_joint_XY=48375;gnomADv4_1_AF_grpmax_joint=0.992272;gnomADv4_1_AF_joint=0.645082;gnomADv4_1_AF_joint_XX=0.639603;gnomADv4_1_AF_joint_XY=0.650814;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152086;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32206;gnomADv4_1_nhomalt_joint_XX=16215;gnomADv4_1_nhomalt_joint_XY=15991;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27680211 chr22_27680211_G_T G T 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=7.186;CADD_Rawscore=0.678385;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.491-3324C>A|||||||rs5762305||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27680211G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-4004C>A|||||||rs5762305||-1||||||||||||Ensembl||G|G||||chr22:g.27680211G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs5762305|2423|1||||||||||||Ensembl||G|G||||chr22:g.27680211G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733293|lncRNA||||||||||rs5762305|4031|1||||||||||||Ensembl||G|G||||chr22:g.27680211G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.491-3324C>A|||||||rs5762305||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27680211G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs5762305|2425|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27680211G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,ENST00000733293,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=14268;gnomADv4_1_AC_joint_XX=6809;gnomADv4_1_AC_joint_XY=7459;gnomADv4_1_AF_grpmax_joint=0.572422;gnomADv4_1_AF_joint=0.0938153;gnomADv4_1_AF_joint_XX=0.0875958;gnomADv4_1_AF_joint_XY=0.100317;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152086;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1723;gnomADv4_1_nhomalt_joint_XX=822;gnomADv4_1_nhomalt_joint_XY=901;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27682160 chr22_27682160_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.636;CADD_Rawscore=0.332928;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.491-5273T>C|||||||rs134111||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27682160A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-5953T>C|||||||rs134111||-1||||||||||||Ensembl||A|A||||chr22:g.27682160A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs134111|4372|1||||||||||||Ensembl||A|A||||chr22:g.27682160A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.491-5273T>C|||||||rs134111||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27682160A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs134111|4374|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27682160A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=142832;gnomADv4_1_AC_joint_XX=72910;gnomADv4_1_AC_joint_XY=69922;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.938252;gnomADv4_1_AF_joint_XX=0.937026;gnomADv4_1_AF_joint_XY=0.939534;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152232;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67709;gnomADv4_1_nhomalt_joint_XX=34512;gnomADv4_1_nhomalt_joint_XY=33197;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27682169 chr22_27682169_C_T C T 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.729;CADD_Rawscore=-0.098731;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.491-5282G>A|||||||rs73162393||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27682169C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-5962G>A|||||||rs73162393||-1||||||||||||Ensembl||C|C||||chr22:g.27682169C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs73162393|4381|1||||||||||||Ensembl||C|C||||chr22:g.27682169C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.491-5282G>A|||||||rs73162393||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27682169C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs73162393|4383|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27682169C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=3656;gnomADv4_1_AC_joint_XX=1678;gnomADv4_1_AC_joint_XY=1978;gnomADv4_1_AF_grpmax_joint=0.0636929;gnomADv4_1_AF_joint=0.0240128;gnomADv4_1_AF_joint_XX=0.0215581;gnomADv4_1_AF_joint_XY=0.0265803;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152252;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=70;gnomADv4_1_nhomalt_joint_XX=20;gnomADv4_1_nhomalt_joint_XY=50;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27682538 chr22_27682538_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.72;CADD_Rawscore=0.124148;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.491-5651A>G|||||||rs134112||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27682538T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-6331A>G|||||||rs134112||-1||||||||||||Ensembl||T|T||||chr22:g.27682538T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs134112|4750|1||||||||||||Ensembl||T|T||||chr22:g.27682538T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.491-5651A>G|||||||rs134112||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27682538T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs134112|4752|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27682538T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8RZC2|enhancer||||||||||rs134112|||||||||||||||||||||chr22:g.27682538T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,NR_186699.1,XR_007068040.1,ENSR22_8RZC2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,125177369,124905098,.;VEP_SYMBOL=CPMER,.,.,CPMER,LOC124905098,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=72816;gnomADv4_1_AC_joint_XX=37378;gnomADv4_1_AC_joint_XY=35438;gnomADv4_1_AF_grpmax_joint=0.62145;gnomADv4_1_AF_joint=0.478731;gnomADv4_1_AF_joint_XX=0.480758;gnomADv4_1_AF_joint_XY=0.476612;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=19966;gnomADv4_1_nhomalt_joint_XX=10333;gnomADv4_1_nhomalt_joint_XY=9633;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27682746 chr22_27682746_G_A G A 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=3.858;CADD_Rawscore=0.35261;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.491-5859C>T|||||||rs116337724||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27682746G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-6539C>T|||||||rs116337724||-1||||||||||||Ensembl||G|G||||chr22:g.27682746G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295865|Transcript|ENST00000733292|lncRNA||||||||||rs116337724|4958|1||||||||||||Ensembl||G|G||||chr22:g.27682746G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.491-5859C>T|||||||rs116337724||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27682746G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC124905098|124905098|Transcript|XR_007068040.1|lncRNA||||||||||rs116337724|4960|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27682746G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,ENST00000733292,NR_186699.1,XR_007068040.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,ENSG00000295865,125177369,124905098;VEP_SYMBOL=CPMER,.,.,CPMER,LOC124905098;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=3656;gnomADv4_1_AC_joint_XX=1683;gnomADv4_1_AC_joint_XY=1973;gnomADv4_1_AF_grpmax_joint=0.0637988;gnomADv4_1_AF_joint=0.0240194;gnomADv4_1_AF_joint_XX=0.0216313;gnomADv4_1_AF_joint_XY=0.0265167;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152210;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=70;gnomADv4_1_nhomalt_joint_XX=21;gnomADv4_1_nhomalt_joint_XY=49;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27683088 chr22_27683088_A_AT A AT 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=17.87;CADDIndel_Rawscore=2.24336;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.491-6202dup|||||||rs112034735||-1||HGNC|HGNC:55992|3||||||||Ensembl|||||||chr22:g.27683097dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-6882dup|||||||rs112034735||-1||||||||||||Ensembl|||||||chr22:g.27683097dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.491-6202dup|||||||rs112034735||-1||EntrezGene|HGNC:55992|||||||||RefSeq|||||||chr22:g.27683097dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=22064;gnomADv4_1_AC_joint_XX=10994;gnomADv4_1_AC_joint_XY=11070;gnomADv4_1_AF_grpmax_joint=0.59342;gnomADv4_1_AF_joint=0.145693;gnomADv4_1_AF_joint_XX=0.141891;gnomADv4_1_AF_joint_XY=0.149676;gnomADv4_1_AN_grpmax_joint=5106;gnomADv4_1_AN_joint=151442;gnomADv4_1_AN_joint_XX=77482;gnomADv4_1_AN_joint_XY=73960;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2502;gnomADv4_1_nhomalt_joint_XX=1213;gnomADv4_1_nhomalt_joint_XY=1289;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27683549 chr22_27683549_G_GA G GA 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.627;CADDIndel_Rawscore=-0.136401;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.490+6170dup|||||||rs71776173||-1||HGNC|HGNC:55992|3||||||||Ensembl|||||||chr22:g.27683558dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-7343dup|||||||rs71776173||-1||||||||||||Ensembl|||||||chr22:g.27683558dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.490+6170dup|||||||rs71776173||-1||EntrezGene|HGNC:55992|||||||||RefSeq|||||||chr22:g.27683558dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=47211;gnomADv4_1_AC_joint_XX=23663;gnomADv4_1_AC_joint_XY=23548;gnomADv4_1_AF_grpmax_joint=0.713454;gnomADv4_1_AF_joint=0.315143;gnomADv4_1_AF_joint_XX=0.308024;gnomADv4_1_AF_joint_XY=0.322637;gnomADv4_1_AN_grpmax_joint=4980;gnomADv4_1_AN_joint=149808;gnomADv4_1_AN_joint_XX=76822;gnomADv4_1_AN_joint_XY=72986;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8220;gnomADv4_1_nhomalt_joint_XX=4017;gnomADv4_1_nhomalt_joint_XY=4203;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27683679 chr22_27683679_G_A G A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.604;CADD_Rawscore=-0.146059;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.490+6041C>T|||||||rs111659711||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27683679G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-7472C>T|||||||rs111659711||-1||||||||||||Ensembl||G|G||||chr22:g.27683679G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.490+6041C>T|||||||rs111659711||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27683679G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=142531;gnomADv4_1_AC_joint_XX=72797;gnomADv4_1_AC_joint_XY=69734;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.937371;gnomADv4_1_AF_joint_XX=0.936296;gnomADv4_1_AF_joint_XY=0.938496;gnomADv4_1_AN_grpmax_joint=5120;gnomADv4_1_AN_joint=152054;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67527;gnomADv4_1_nhomalt_joint_XX=34444;gnomADv4_1_nhomalt_joint_XY=33083;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27683914 chr22_27683914_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.733;CADD_Rawscore=0.248187;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.490+5806T>C|||||||rs134114||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27683914A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-7707T>C|||||||rs134114||-1||||||||||||Ensembl||A|A||||chr22:g.27683914A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.490+5806T>C|||||||rs134114||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27683914A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=92384;gnomADv4_1_AC_joint_XX=46701;gnomADv4_1_AC_joint_XY=45683;gnomADv4_1_AF_grpmax_joint=0.980598;gnomADv4_1_AF_joint=0.608246;gnomADv4_1_AF_joint_XX=0.601182;gnomADv4_1_AF_joint_XY=0.615641;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151886;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=28776;gnomADv4_1_nhomalt_joint_XX=14382;gnomADv4_1_nhomalt_joint_XY=14394;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27683935 chr22_27683935_A_G A G 49 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.304;CADD_Rawscore=-0.318959;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.490+5785T>C|||||||rs138209460||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27683935A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-7728T>C|||||||rs138209460||-1||||||||||||Ensembl||A|A||||chr22:g.27683935A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.490+5785T>C|||||||rs138209460||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27683935A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=142526;gnomADv4_1_AC_joint_XX=72742;gnomADv4_1_AC_joint_XY=69784;gnomADv4_1_AF_grpmax_joint=0.999807;gnomADv4_1_AF_joint=0.936796;gnomADv4_1_AF_joint_XX=0.935588;gnomADv4_1_AF_joint_XY=0.938058;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67502;gnomADv4_1_nhomalt_joint_XX=34396;gnomADv4_1_nhomalt_joint_XY=33106;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27685134 chr22_27685134_A_C A C 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.875;CADD_Rawscore=-0.052268;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.490+4586T>G|||||||rs134115||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27685134A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-8927T>G|||||||rs134115||-1||||||||||||Ensembl||A|A||||chr22:g.27685134A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.490+4586T>G|||||||rs134115||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27685134A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=30946;gnomADv4_1_AC_joint_XX=15667;gnomADv4_1_AC_joint_XY=15279;gnomADv4_1_AF_grpmax_joint=0.286396;gnomADv4_1_AF_joint=0.203333;gnomADv4_1_AF_joint_XX=0.201448;gnomADv4_1_AF_joint_XY=0.205302;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3353;gnomADv4_1_nhomalt_joint_XX=1707;gnomADv4_1_nhomalt_joint_XY=1646;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27686023 chr22_27686023_GAC_G GAC G 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=1.103;CADDIndel_Rawscore=0.007631;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.490+3695_490+3696del|||||||rs1289913721||-1||HGNC|HGNC:55992|3||||||||Ensembl||AC|AC||||chr22:g.27686027_27686028del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-9818_392-9817del|||||||rs1289913721||-1||||||||||||Ensembl||AC|AC||||chr22:g.27686027_27686028del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.490+3695_490+3696del|||||||rs1289913721||-1||EntrezGene|HGNC:55992|||||||||RefSeq||AC|AC||||chr22:g.27686027_27686028del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=10;gnomADv4_1_AC_joint_XX=4;gnomADv4_1_AC_joint_XY=6;gnomADv4_1_AF_grpmax_joint=0.000385356;gnomADv4_1_AF_joint=6.56392e-05;gnomADv4_1_AF_joint_XX=5.13861e-05;gnomADv4_1_AF_joint_XY=8.05304e-05;gnomADv4_1_AN_grpmax_joint=5190;gnomADv4_1_AN_joint=152348;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74506;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27686096 chr22_27686096_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.72;CADD_Rawscore=0.246846;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.490+3624A>G|||||||rs134116||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27686096T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-9889A>G|||||||rs134116||-1||||||||||||Ensembl||T|T||||chr22:g.27686096T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.490+3624A>G|||||||rs134116||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27686096T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=32649;gnomADv4_1_AC_joint_XX=16554;gnomADv4_1_AC_joint_XY=16095;gnomADv4_1_AF_grpmax_joint=0.29932;gnomADv4_1_AF_joint=0.214567;gnomADv4_1_AF_joint_XX=0.212853;gnomADv4_1_AF_joint_XY=0.21636;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3604;gnomADv4_1_nhomalt_joint_XX=1866;gnomADv4_1_nhomalt_joint_XY=1738;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27687069 chr22_27687069_G_A G A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.576;CADD_Rawscore=-0.157966;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.490+2651C>T|||||||rs134118||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27687069G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-10862C>T|||||||rs134118||-1||||||||||||Ensembl||G|G||||chr22:g.27687069G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.490+2651C>T|||||||rs134118||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27687069G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7HCL|enhancer||||||||||rs134118|||||||||||||||||||||chr22:g.27687069G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1,ENSR22_B7HCL;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369,.;VEP_SYMBOL=CPMER,.,CPMER,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=148295;gnomADv4_1_AC_joint_XX=75714;gnomADv4_1_AC_joint_XY=72581;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.973588;gnomADv4_1_AF_joint_XX=0.972763;gnomADv4_1_AF_joint_XY=0.974451;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152318;gnomADv4_1_AN_joint_XX=77834;gnomADv4_1_AN_joint_XY=74484;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=72295;gnomADv4_1_nhomalt_joint_XX=36874;gnomADv4_1_nhomalt_joint_XY=35421;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27687523 chr22_27687523_A_G A G 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.63;CADD_Rawscore=0.109895;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.490+2197T>C|||||||rs134119||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27687523A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-11316T>C|||||||rs134119||-1||||||||||||Ensembl||A|A||||chr22:g.27687523A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.490+2197T>C|||||||rs134119||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27687523A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=75352;gnomADv4_1_AC_joint_XX=38692;gnomADv4_1_AC_joint_XY=36660;gnomADv4_1_AF_grpmax_joint=0.628013;gnomADv4_1_AF_joint=0.496096;gnomADv4_1_AF_joint_XX=0.498326;gnomADv4_1_AF_joint_XY=0.493764;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=151890;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74246;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=18966;gnomADv4_1_nhomalt_joint_XX=9760;gnomADv4_1_nhomalt_joint_XY=9206;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27688341 chr22_27688341_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=2.133;CADD_Rawscore=0.181078;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.490+1379C>T|||||||rs5752609||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27688341G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-12134C>T|||||||rs5752609||-1||||||||||||Ensembl||G|G||||chr22:g.27688341G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.490+1379C>T|||||||rs5752609||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27688341G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9DZPM|open_chromatin_region||||||||||rs5752609|||||||||||||||||||||chr22:g.27688341G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1,ENSR22_9DZPM;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369,.;VEP_SYMBOL=CPMER,.,CPMER,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=11337;gnomADv4_1_AC_joint_XX=5437;gnomADv4_1_AC_joint_XY=5900;gnomADv4_1_AF_grpmax_joint=0.517208;gnomADv4_1_AF_joint=0.0744797;gnomADv4_1_AF_joint_XX=0.0699005;gnomADv4_1_AF_joint_XY=0.0792649;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152216;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1274;gnomADv4_1_nhomalt_joint_XX=600;gnomADv4_1_nhomalt_joint_XY=674;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27688774 chr22_27688775_G_GT;chr22_27688774_TG_T TG T 46 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=24;CADDIndel_PHREDscore=0.071;CADDIndel_Rawscore=-0.702338;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.490+945del|||||||rs370312484||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27688775del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-12568del|||||||rs370312484||-1||||||||||||Ensembl||G|G||||chr22:g.27688775del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.490+945del|||||||rs370312484||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27688775del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=23429;gnomADv4_1_AC_joint_XX=11755;gnomADv4_1_AC_joint_XY=11674;gnomADv4_1_AF_grpmax_joint=0.599789;gnomADv4_1_AF_joint=0.180941;gnomADv4_1_AF_joint_XX=0.176168;gnomADv4_1_AF_joint_XY=0.186016;gnomADv4_1_AN_grpmax_joint=4740;gnomADv4_1_AN_joint=129484;gnomADv4_1_AN_joint_XX=66726;gnomADv4_1_AN_joint_XY=62758;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3267;gnomADv4_1_nhomalt_joint_XX=1689;gnomADv4_1_nhomalt_joint_XY=1578;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27688775 chr22_27688775_G_GT;chr22_27688774_TG_T G GT 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=46;CADDIndel_PHREDscore=0.337;CADDIndel_Rawscore=-0.292225;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.490+944dup|||||||rs202079816||-1||HGNC|HGNC:55992|3||||||||Ensembl|||||||chr22:g.27688792dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-12569dup|||||||rs202079816||-1||||||||||||Ensembl|||||||chr22:g.27688792dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.490+944dup|||||||rs202079816||-1||EntrezGene|HGNC:55992|||||||||RefSeq|||||||chr22:g.27688792dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=35140;gnomADv4_1_AC_joint_XX=18223;gnomADv4_1_AC_joint_XY=16917;gnomADv4_1_AF_grpmax_joint=0.443755;gnomADv4_1_AF_joint=0.277304;gnomADv4_1_AF_joint_XX=0.277316;gnomADv4_1_AF_joint_XY=0.277292;gnomADv4_1_AN_grpmax_joint=30278;gnomADv4_1_AN_joint=126720;gnomADv4_1_AN_joint_XX=65712;gnomADv4_1_AN_joint_XY=61008;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4858;gnomADv4_1_nhomalt_joint_XX=2518;gnomADv4_1_nhomalt_joint_XY=2340;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27688776 chr22_27688776_T_C T C 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=1.038;CADD_Rawscore=-0.008263;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.490+944A>G|||||||rs1457550484||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27688776T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-12569A>G|||||||rs1457550484||-1||||||||||||Ensembl||T|T||||chr22:g.27688776T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.490+944A>G|||||||rs1457550484||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27688776T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=23454;gnomADv4_1_AC_joint_XX=11765;gnomADv4_1_AC_joint_XY=11689;gnomADv4_1_AF_grpmax_joint=0.656337;gnomADv4_1_AF_joint=0.275469;gnomADv4_1_AF_joint_XX=0.270422;gnomADv4_1_AF_joint_XY=0.280743;gnomADv4_1_AN_grpmax_joint=4324;gnomADv4_1_AN_joint=85142;gnomADv4_1_AN_joint_XX=43506;gnomADv4_1_AN_joint_XY=41636;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3266;gnomADv4_1_nhomalt_joint_XX=1690;gnomADv4_1_nhomalt_joint_XY=1576;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27689303 chr22_27689303_G_A G A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.291;CADD_Rawscore=-0.329417;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.490+417C>T|||||||rs134122||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27689303G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-13096C>T|||||||rs134122||-1||||||||||||Ensembl||G|G||||chr22:g.27689303G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.490+417C>T|||||||rs134122||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27689303G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=31282;gnomADv4_1_AC_joint_XX=15864;gnomADv4_1_AC_joint_XY=15418;gnomADv4_1_AF_grpmax_joint=0.282826;gnomADv4_1_AF_joint=0.205946;gnomADv4_1_AF_joint_XX=0.204307;gnomADv4_1_AF_joint_XY=0.207661;gnomADv4_1_AN_grpmax_joint=4798;gnomADv4_1_AN_joint=151894;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74246;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3395;gnomADv4_1_nhomalt_joint_XX=1737;gnomADv4_1_nhomalt_joint_XY=1658;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27689478 chr22_27689478_G_GAAAAA;chr22_27689478_GA_G;chr22_27689478_G_GAAAAAAA G GAAAAA 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=0.5;AF_XX=1.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=0.136;CADDIndel_Rawscore=-0.529085;CSQ=AAAAA|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.490+237_490+241dup|||||||rs530858204||-1||HGNC|HGNC:55992|3||||||||Ensembl|||||||chr22:g.27689492_27689496dup|||||||||||||,AAAAA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-13276_392-13272dup|||||||rs530858204||-1||||||||||||Ensembl|||||||chr22:g.27689492_27689496dup|||||||||||||,AAAAA|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.490+237_490+241dup|||||||rs530858204||-1||EntrezGene|HGNC:55992|||||||||RefSeq|||||||chr22:g.27689492_27689496dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAAA,AAAAA,AAAAA;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=17365;gnomADv4_1_AC_joint_XX=9460;gnomADv4_1_AC_joint_XY=7905;gnomADv4_1_AF_grpmax_joint=0.17913;gnomADv4_1_AF_joint=0.139207;gnomADv4_1_AF_joint_XX=0.143247;gnomADv4_1_AF_joint_XY=0.134663;gnomADv4_1_AN_grpmax_joint=59052;gnomADv4_1_AN_joint=124742;gnomADv4_1_AN_joint_XX=66040;gnomADv4_1_AN_joint_XY=58702;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1363;gnomADv4_1_nhomalt_joint_XX=766;gnomADv4_1_nhomalt_joint_XY=597;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27689478 chr22_27689478_G_GAAAAA;chr22_27689478_GA_G;chr22_27689478_G_GAAAAAAA GA G 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=29;CADDIndel_PHREDscore=0.069;CADDIndel_Rawscore=-0.712947;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.490+241del|||||||rs530858204||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27689496del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-13272del|||||||rs530858204||-1||||||||||||Ensembl||A|A||||chr22:g.27689496del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.490+241del|||||||rs530858204||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27689496del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=13638;gnomADv4_1_AC_joint_XX=6692;gnomADv4_1_AC_joint_XY=6946;gnomADv4_1_AF_grpmax_joint=0.539922;gnomADv4_1_AF_joint=0.108926;gnomADv4_1_AF_joint_XX=0.100972;gnomADv4_1_AF_joint_XY=0.117873;gnomADv4_1_AN_grpmax_joint=4634;gnomADv4_1_AN_joint=125204;gnomADv4_1_AN_joint_XX=66276;gnomADv4_1_AN_joint_XY=58928;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1416;gnomADv4_1_nhomalt_joint_XX=678;gnomADv4_1_nhomalt_joint_XY=738;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27689478 chr22_27689478_G_GAAAAA;chr22_27689478_GA_G;chr22_27689478_G_GAAAAAAA G GAAAAAAA 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=26;CADDIndel_PHREDscore=0.131;CADDIndel_Rawscore=-0.538524;CSQ=AAAAAAA|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||4/4|ENST00000440255.1:n.490+235_490+241dup|||||||rs530858204||-1||HGNC|HGNC:55992|3||||||||Ensembl|||||||chr22:g.27689490_27689496dup|||||||||||||,AAAAAAA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-13278_392-13272dup|||||||rs530858204||-1||||||||||||Ensembl|||||||chr22:g.27689490_27689496dup|||||||||||||,AAAAAAA|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||4/4|NR_186699.1:n.490+235_490+241dup|||||||rs530858204||-1||EntrezGene|HGNC:55992|||||||||RefSeq|||||||chr22:g.27689490_27689496dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAAAAA,AAAAAAA,AAAAAAA;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=1749;gnomADv4_1_AC_joint_XX=932;gnomADv4_1_AC_joint_XY=817;gnomADv4_1_AF_grpmax_joint=0.0170773;gnomADv4_1_AF_joint=0.0139674;gnomADv4_1_AF_joint_XX=0.0140624;gnomADv4_1_AF_joint_XY=0.0138606;gnomADv4_1_AN_grpmax_joint=59260;gnomADv4_1_AN_joint=125220;gnomADv4_1_AN_joint_XX=66276;gnomADv4_1_AN_joint_XY=58944;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26;gnomADv4_1_nhomalt_joint_XX=12;gnomADv4_1_nhomalt_joint_XY=14;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27689954 chr22_27689954_T_C T C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.679;CADD_Rawscore=-0.116431;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.325-69A>G|||||||rs5762307||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27689954T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-13747A>G|||||||rs5762307||-1||||||||||||Ensembl||T|T||||chr22:g.27689954T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.325-69A>G|||||||rs5762307||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27689954T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=24517;gnomADv4_1_AC_joint_XX=12297;gnomADv4_1_AC_joint_XY=12220;gnomADv4_1_AF_grpmax_joint=0.601432;gnomADv4_1_AF_joint=0.161177;gnomADv4_1_AF_joint_XX=0.158149;gnomADv4_1_AF_joint_XY=0.164345;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152112;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3749;gnomADv4_1_nhomalt_joint_XX=1926;gnomADv4_1_nhomalt_joint_XY=1823;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27690231 chr22_27690231_A_G A G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.023;CADD_Rawscore=-1.01782;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.325-346T>C|||||||rs5762308||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27690231A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-14024T>C|||||||rs5762308||-1||||||||||||Ensembl||A|A||||chr22:g.27690231A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.325-346T>C|||||||rs5762308||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27690231A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=1439;gnomADv4_1_AC_joint_XX=646;gnomADv4_1_AC_joint_XY=793;gnomADv4_1_AF_grpmax_joint=0.0795587;gnomADv4_1_AF_joint=0.00945119;gnomADv4_1_AF_joint_XX=0.00830313;gnomADv4_1_AF_joint_XY=0.0106509;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152256;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=38;gnomADv4_1_nhomalt_joint_XX=17;gnomADv4_1_nhomalt_joint_XY=21;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27690993 chr22_27690993_T_C T C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=4.462;CADD_Rawscore=0.406524;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.325-1108A>G|||||||rs134125||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27690993T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-14786A>G|||||||rs134125||-1||||||||||||Ensembl||T|T||||chr22:g.27690993T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.325-1108A>G|||||||rs134125||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27690993T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=22071;gnomADv4_1_AC_joint_XX=11281;gnomADv4_1_AC_joint_XY=10790;gnomADv4_1_AF_grpmax_joint=0.186332;gnomADv4_1_AF_joint=0.145032;gnomADv4_1_AF_joint_XX=0.145037;gnomADv4_1_AF_joint_XY=0.145027;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1821;gnomADv4_1_nhomalt_joint_XX=931;gnomADv4_1_nhomalt_joint_XY=890;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27691308 chr22_27691308_T_A T A 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.024;CADD_Rawscore=-1.00984;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.325-1423A>T|||||||rs134126||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27691308T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-15101A>T|||||||rs134126||-1||||||||||||Ensembl||T|T||||chr22:g.27691308T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.325-1423A>T|||||||rs134126||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27691308T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=27921;gnomADv4_1_AC_joint_XX=14097;gnomADv4_1_AC_joint_XY=13824;gnomADv4_1_AF_grpmax_joint=0.251245;gnomADv4_1_AF_joint=0.18342;gnomADv4_1_AF_joint_XX=0.181242;gnomADv4_1_AF_joint_XY=0.185697;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152224;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2724;gnomADv4_1_nhomalt_joint_XX=1373;gnomADv4_1_nhomalt_joint_XY=1351;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27693739 chr22_27693739_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=5.702;CADD_Rawscore=0.523423;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.324+3852C>T|||||||rs4822928||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27693739G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-17532C>T|||||||rs4822928||-1||||||||||||Ensembl||G|G||||chr22:g.27693739G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.324+3852C>T|||||||rs4822928||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27693739G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=24445;gnomADv4_1_AC_joint_XX=12263;gnomADv4_1_AC_joint_XY=12182;gnomADv4_1_AF_grpmax_joint=0.600661;gnomADv4_1_AF_joint=0.160734;gnomADv4_1_AF_joint_XX=0.157768;gnomADv4_1_AF_joint_XY=0.163833;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3728;gnomADv4_1_nhomalt_joint_XX=1918;gnomADv4_1_nhomalt_joint_XY=1810;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27694209 chr22_27694209_G_A G A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=4.088;CADD_Rawscore=0.373029;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.324+3382C>T|||||||rs5762311||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27694209G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-18002C>T|||||||rs5762311||-1||||||||||||Ensembl||G|G||||chr22:g.27694209G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.324+3382C>T|||||||rs5762311||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27694209G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=28730;gnomADv4_1_AC_joint_XX=14482;gnomADv4_1_AC_joint_XY=14248;gnomADv4_1_AF_grpmax_joint=0.621277;gnomADv4_1_AF_joint=0.188864;gnomADv4_1_AF_joint_XX=0.18624;gnomADv4_1_AF_joint_XY=0.191608;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4257;gnomADv4_1_nhomalt_joint_XX=2182;gnomADv4_1_nhomalt_joint_XY=2075;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27694376 chr22_27694376_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.384;CADD_Rawscore=-0.259419;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.324+3215C>T|||||||rs134128||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27694376G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-18169C>T|||||||rs134128||-1||||||||||||Ensembl||G|G||||chr22:g.27694376G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.324+3215C>T|||||||rs134128||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27694376G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=108428;gnomADv4_1_AC_joint_XX=55391;gnomADv4_1_AC_joint_XY=53037;gnomADv4_1_AF_grpmax_joint=0.86646;gnomADv4_1_AF_joint=0.713286;gnomADv4_1_AF_joint_XX=0.71292;gnomADv4_1_AF_joint_XY=0.713669;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=39317;gnomADv4_1_nhomalt_joint_XX=20082;gnomADv4_1_nhomalt_joint_XY=19235;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27695522 chr22_27695522_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.021;CADD_Rawscore=0.166636;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.324+2069A>G|||||||rs7292833||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27695522T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-19315A>G|||||||rs7292833||-1||||||||||||Ensembl||T|T||||chr22:g.27695522T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.324+2069A>G|||||||rs7292833||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27695522T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=29478;gnomADv4_1_AC_joint_XX=14999;gnomADv4_1_AC_joint_XY=14479;gnomADv4_1_AF_grpmax_joint=0.505356;gnomADv4_1_AF_joint=0.206683;gnomADv4_1_AF_joint_XX=0.202465;gnomADv4_1_AF_joint_XY=0.211243;gnomADv4_1_AN_grpmax_joint=38648;gnomADv4_1_AN_joint=142624;gnomADv4_1_AN_joint_XX=74082;gnomADv4_1_AN_joint_XY=68542;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5968;gnomADv4_1_nhomalt_joint_XX=3066;gnomADv4_1_nhomalt_joint_XY=2902;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27695816 chr22_27695816_G_A G A 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=14;CADD_PHREDscore=1.612;CADD_Rawscore=0.107004;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.324+1775C>T|||||||rs145161661||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27695816G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-19609C>T|||||||rs145161661||-1||||||||||||Ensembl||G|G||||chr22:g.27695816G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.324+1775C>T|||||||rs145161661||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27695816G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=18086;gnomADv4_1_AC_joint_XX=9835;gnomADv4_1_AC_joint_XY=8251;gnomADv4_1_AF_grpmax_joint=0.375969;gnomADv4_1_AF_joint=0.273153;gnomADv4_1_AF_joint_XX=0.276186;gnomADv4_1_AF_joint_XY=0.269623;gnomADv4_1_AN_grpmax_joint=2064;gnomADv4_1_AN_joint=66212;gnomADv4_1_AN_joint_XX=35610;gnomADv4_1_AN_joint_XY=30602;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2323;gnomADv4_1_nhomalt_joint_XX=1260;gnomADv4_1_nhomalt_joint_XY=1063;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27695820 chr22_27695820_G_A G A 15 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=15;CADD_PHREDscore=1.646;CADD_Rawscore=0.112511;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.324+1771C>T|||||||rs200449736||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27695820G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-19613C>T|||||||rs200449736||-1||||||||||||Ensembl||G|G||||chr22:g.27695820G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.324+1771C>T|||||||rs200449736||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27695820G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=18289;gnomADv4_1_AC_joint_XX=9967;gnomADv4_1_AC_joint_XY=8322;gnomADv4_1_AF_grpmax_joint=0.307731;gnomADv4_1_AF_joint=0.281933;gnomADv4_1_AF_joint_XX=0.288447;gnomADv4_1_AF_joint_XY=0.274509;gnomADv4_1_AN_grpmax_joint=27940;gnomADv4_1_AN_joint=64870;gnomADv4_1_AN_joint_XX=34554;gnomADv4_1_AN_joint_XY=30316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2237;gnomADv4_1_nhomalt_joint_XX=1218;gnomADv4_1_nhomalt_joint_XY=1019;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27695824 chr22_27695824_G_A G A 17 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=17;CADD_PHREDscore=1.554;CADD_Rawscore=0.097367;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.324+1767C>T|||||||rs76596267||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27695824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-19617C>T|||||||rs76596267||-1||||||||||||Ensembl||G|G||||chr22:g.27695824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.324+1767C>T|||||||rs76596267||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27695824G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=17788;gnomADv4_1_AC_joint_XX=9752;gnomADv4_1_AC_joint_XY=8036;gnomADv4_1_AF_grpmax_joint=0.362505;gnomADv4_1_AF_joint=0.243045;gnomADv4_1_AF_joint_XX=0.250565;gnomADv4_1_AF_joint_XY=0.234504;gnomADv4_1_AN_grpmax_joint=30852;gnomADv4_1_AN_joint=73188;gnomADv4_1_AN_joint_XX=38920;gnomADv4_1_AN_joint_XY=34268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2323;gnomADv4_1_nhomalt_joint_XX=1306;gnomADv4_1_nhomalt_joint_XY=1017;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27696305 chr22_27696305_T_C T C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.17;CADD_Rawscore=-0.470384;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.324+1286A>G|||||||rs5762312||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27696305T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-20098A>G|||||||rs5762312||-1||||||||||||Ensembl||T|T||||chr22:g.27696305T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.324+1286A>G|||||||rs5762312||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27696305T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=3901;gnomADv4_1_AC_joint_XX=1698;gnomADv4_1_AC_joint_XY=2203;gnomADv4_1_AF_grpmax_joint=0.302055;gnomADv4_1_AF_joint=0.0256169;gnomADv4_1_AF_joint_XX=0.0218224;gnomADv4_1_AF_joint_XY=0.0295816;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152282;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=342;gnomADv4_1_nhomalt_joint_XX=151;gnomADv4_1_nhomalt_joint_XY=191;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27696553 chr22_27696553_T_C T C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.903;CADD_Rawscore=-0.044195;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.324+1038A>G|||||||rs9625295||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27696553T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-20346A>G|||||||rs9625295||-1||||||||||||Ensembl||T|T||||chr22:g.27696553T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.324+1038A>G|||||||rs9625295||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27696553T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=29893;gnomADv4_1_AC_joint_XX=15265;gnomADv4_1_AC_joint_XY=14628;gnomADv4_1_AF_grpmax_joint=0.238067;gnomADv4_1_AF_joint=0.197085;gnomADv4_1_AF_joint_XX=0.19678;gnomADv4_1_AF_joint_XY=0.197404;gnomADv4_1_AN_grpmax_joint=67880;gnomADv4_1_AN_joint=151676;gnomADv4_1_AN_joint_XX=77574;gnomADv4_1_AN_joint_XY=74102;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3310;gnomADv4_1_nhomalt_joint_XX=1714;gnomADv4_1_nhomalt_joint_XY=1596;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27696583 chr22_27696583_A_G A G 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=4.241;CADD_Rawscore=0.386622;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.324+1008T>C|||||||rs5762313||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27696583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-20376T>C|||||||rs5762313||-1||||||||||||Ensembl||A|A||||chr22:g.27696583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.324+1008T>C|||||||rs5762313||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27696583A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=15113;gnomADv4_1_AC_joint_XX=7668;gnomADv4_1_AC_joint_XY=7445;gnomADv4_1_AF_grpmax_joint=0.332492;gnomADv4_1_AF_joint=0.0994146;gnomADv4_1_AF_joint_XX=0.0986695;gnomADv4_1_AF_joint_XY=0.100194;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1644;gnomADv4_1_nhomalt_joint_XX=850;gnomADv4_1_nhomalt_joint_XY=794;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27696720 chr22_27696720_G_C G C 45 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.647;CADD_Rawscore=-0.128784;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.324+871C>G|||||||rs8135518||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27696720G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-20513C>G|||||||rs8135518||-1||||||||||||Ensembl||G|G||||chr22:g.27696720G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.324+871C>G|||||||rs8135518||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27696720G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=134875;gnomADv4_1_AC_joint_XX=69289;gnomADv4_1_AC_joint_XY=65586;gnomADv4_1_AF_grpmax_joint=0.971231;gnomADv4_1_AF_joint=0.911367;gnomADv4_1_AF_joint_XX=0.911721;gnomADv4_1_AF_joint_XY=0.910993;gnomADv4_1_AN_grpmax_joint=67364;gnomADv4_1_AN_joint=147992;gnomADv4_1_AN_joint_XX=75998;gnomADv4_1_AN_joint_XY=71994;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=61951;gnomADv4_1_nhomalt_joint_XX=31850;gnomADv4_1_nhomalt_joint_XY=30101;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27696732 chr22_27696732_T_TA T TA 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=33;CADDIndel_PHREDscore=1.373;CADDIndel_Rawscore=0.064964;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.324+858dup|||||||rs542556176||-1||HGNC|HGNC:55992|3||||||||Ensembl|||||||chr22:g.27696749dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-20526dup|||||||rs542556176||-1||||||||||||Ensembl|||||||chr22:g.27696749dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.324+858dup|||||||rs542556176||-1||EntrezGene|HGNC:55992|||||||||RefSeq|||||||chr22:g.27696749dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=12361;gnomADv4_1_AC_joint_XX=6351;gnomADv4_1_AC_joint_XY=6010;gnomADv4_1_AF_grpmax_joint=0.336102;gnomADv4_1_AF_joint=0.09879;gnomADv4_1_AF_joint_XX=0.0977047;gnomADv4_1_AF_joint_XY=0.0999634;gnomADv4_1_AN_grpmax_joint=4454;gnomADv4_1_AN_joint=125124;gnomADv4_1_AN_joint_XX=65002;gnomADv4_1_AN_joint_XY=60122;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1194;gnomADv4_1_nhomalt_joint_XX=637;gnomADv4_1_nhomalt_joint_XY=557;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27696862 chr22_27696862_C_T C T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=2.869;CADD_Rawscore=0.26177;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.324+729G>A|||||||rs79509948||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27696862C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-20655G>A|||||||rs79509948||-1||||||||||||Ensembl||C|C||||chr22:g.27696862C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.324+729G>A|||||||rs79509948||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27696862C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=5219;gnomADv4_1_AC_joint_XX=2403;gnomADv4_1_AC_joint_XY=2816;gnomADv4_1_AF_grpmax_joint=0.30199;gnomADv4_1_AF_joint=0.0343242;gnomADv4_1_AF_joint_XX=0.0309155;gnomADv4_1_AF_joint_XY=0.0378892;gnomADv4_1_AN_grpmax_joint=5126;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=370;gnomADv4_1_nhomalt_joint_XX=169;gnomADv4_1_nhomalt_joint_XY=201;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27696927 chr22_27696927_T_G T G 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=3.526;CADD_Rawscore=0.323078;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.324+664A>C|||||||rs73431094||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27696927T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-20720A>C|||||||rs73431094||-1||||||||||||Ensembl||T|T||||chr22:g.27696927T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.324+664A>C|||||||rs73431094||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27696927T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=15087;gnomADv4_1_AC_joint_XX=7657;gnomADv4_1_AC_joint_XY=7430;gnomADv4_1_AF_grpmax_joint=0.332943;gnomADv4_1_AF_joint=0.0993533;gnomADv4_1_AF_joint_XX=0.0986193;gnomADv4_1_AF_joint_XY=0.100121;gnomADv4_1_AN_grpmax_joint=5130;gnomADv4_1_AN_joint=151852;gnomADv4_1_AN_joint_XX=77642;gnomADv4_1_AN_joint_XY=74210;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1639;gnomADv4_1_nhomalt_joint_XX=847;gnomADv4_1_nhomalt_joint_XY=792;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27696990 chr22_27696990_T_C T C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.341;CADD_Rawscore=0.058705;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.324+601A>G|||||||rs5997290||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27696990T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-20783A>G|||||||rs5997290||-1||||||||||||Ensembl||T|T||||chr22:g.27696990T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.324+601A>G|||||||rs5997290||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27696990T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=72671;gnomADv4_1_AC_joint_XX=37251;gnomADv4_1_AC_joint_XY=35420;gnomADv4_1_AF_grpmax_joint=0.633543;gnomADv4_1_AF_joint=0.479196;gnomADv4_1_AF_joint_XX=0.480175;gnomADv4_1_AF_joint_XY=0.47817;gnomADv4_1_AN_grpmax_joint=4770;gnomADv4_1_AN_joint=151652;gnomADv4_1_AN_joint_XX=77578;gnomADv4_1_AN_joint_XY=74074;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=17618;gnomADv4_1_nhomalt_joint_XX=9018;gnomADv4_1_nhomalt_joint_XY=8600;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27697394 chr22_27697394_G_T G T 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=2.666;CADD_Rawscore=0.241304;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.324+197C>A|||||||rs9613514||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27697394G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-21187C>A|||||||rs9613514||-1||||||||||||Ensembl||G|G||||chr22:g.27697394G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.324+197C>A|||||||rs9613514||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27697394G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=46208;gnomADv4_1_AC_joint_XX=23767;gnomADv4_1_AC_joint_XY=22441;gnomADv4_1_AF_grpmax_joint=0.401361;gnomADv4_1_AF_joint=0.303992;gnomADv4_1_AF_joint_XX=0.305803;gnomADv4_1_AF_joint_XY=0.302097;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152004;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8064;gnomADv4_1_nhomalt_joint_XX=4162;gnomADv4_1_nhomalt_joint_XY=3902;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27697465 chr22_27697465_C_G C G 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=3.743;CADD_Rawscore=0.342464;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||3/4|ENST00000440255.1:n.324+126G>C|||||||rs4822929||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27697465C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-21258G>C|||||||rs4822929||-1||||||||||||Ensembl||C|C||||chr22:g.27697465C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||3/4|NR_186699.1:n.324+126G>C|||||||rs4822929||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27697465C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=27265;gnomADv4_1_AC_joint_XX=13886;gnomADv4_1_AC_joint_XY=13379;gnomADv4_1_AF_grpmax_joint=0.21463;gnomADv4_1_AF_joint=0.178888;gnomADv4_1_AF_joint_XX=0.178355;gnomADv4_1_AF_joint_XY=0.179444;gnomADv4_1_AN_grpmax_joint=68136;gnomADv4_1_AN_joint=152414;gnomADv4_1_AN_joint_XX=77856;gnomADv4_1_AN_joint_XY=74558;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2734;gnomADv4_1_nhomalt_joint_XX=1405;gnomADv4_1_nhomalt_joint_XY=1329;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27697714 chr22_27697714_G_A G A 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.119;CADD_Rawscore=-0.563986;CSQ=A|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-13C>T|||||||rs9608641||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27697714G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-21507C>T|||||||rs9608641||-1||||||||||||Ensembl||G|G||||chr22:g.27697714G>A|||||||||||||,A|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-13C>T|||||||rs9608641||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27697714G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=50659;gnomADv4_1_AC_joint_XX=25910;gnomADv4_1_AC_joint_XY=24749;gnomADv4_1_AF_grpmax_joint=0.487526;gnomADv4_1_AF_joint=0.333178;gnomADv4_1_AF_joint_XX=0.333265;gnomADv4_1_AF_joint_XY=0.333087;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=9636;gnomADv4_1_nhomalt_joint_XX=4914;gnomADv4_1_nhomalt_joint_XY=4722;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27697982 chr22_27697982_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=6.937;CADD_Rawscore=0.651316;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-281G>A|||||||rs5762314||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27697982C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-21775G>A|||||||rs5762314||-1||||||||||||Ensembl||C|C||||chr22:g.27697982C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-281G>A|||||||rs5762314||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27697982C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=15271;gnomADv4_1_AC_joint_XX=7753;gnomADv4_1_AC_joint_XY=7518;gnomADv4_1_AF_grpmax_joint=0.331389;gnomADv4_1_AF_joint=0.100322;gnomADv4_1_AF_joint_XX=0.0996632;gnomADv4_1_AF_joint_XY=0.10101;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=152220;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1672;gnomADv4_1_nhomalt_joint_XX=859;gnomADv4_1_nhomalt_joint_XY=813;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27698049 chr22_27698049_C_T C T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=13.49;CADD_Rawscore=1.38729;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-348G>A|||||||rs5762315||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27698049C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-21842G>A|||||||rs5762315||-1||||||||||||Ensembl||C|C||||chr22:g.27698049C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-348G>A|||||||rs5762315||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27698049C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=69859;gnomADv4_1_AC_joint_XX=35562;gnomADv4_1_AC_joint_XY=34297;gnomADv4_1_AF_grpmax_joint=0.557004;gnomADv4_1_AF_joint=0.459466;gnomADv4_1_AF_joint_XX=0.457354;gnomADv4_1_AF_joint_XY=0.461676;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16849;gnomADv4_1_nhomalt_joint_XX=8546;gnomADv4_1_nhomalt_joint_XY=8303;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27698158 chr22_27698158_C_T C T 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=5.373;CADD_Rawscore=0.49131;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-457G>A|||||||rs5762316||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27698158C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-21951G>A|||||||rs5762316||-1||||||||||||Ensembl||C|C||||chr22:g.27698158C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-457G>A|||||||rs5762316||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27698158C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=69821;gnomADv4_1_AC_joint_XX=35529;gnomADv4_1_AC_joint_XY=34292;gnomADv4_1_AF_grpmax_joint=0.556398;gnomADv4_1_AF_joint=0.459488;gnomADv4_1_AF_joint_XX=0.457329;gnomADv4_1_AF_joint_XY=0.461746;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=151954;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16840;gnomADv4_1_nhomalt_joint_XX=8541;gnomADv4_1_nhomalt_joint_XY=8299;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27698397 chr22_27698397_C_T C T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.593;CADD_Rawscore=-0.150615;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-696G>A|||||||rs73883611||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27698397C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-22190G>A|||||||rs73883611||-1||||||||||||Ensembl||C|C||||chr22:g.27698397C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-696G>A|||||||rs73883611||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27698397C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=142906;gnomADv4_1_AC_joint_XX=72905;gnomADv4_1_AC_joint_XY=70001;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.938677;gnomADv4_1_AF_joint_XX=0.937323;gnomADv4_1_AF_joint_XY=0.94009;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152242;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67759;gnomADv4_1_nhomalt_joint_XX=34524;gnomADv4_1_nhomalt_joint_XY=33235;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27698575 chr22_27698575_C_T C T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.206;CADD_Rawscore=0.030998;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-874G>A|||||||rs9625297||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27698575C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-22368G>A|||||||rs9625297||-1||||||||||||Ensembl||C|C||||chr22:g.27698575C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-874G>A|||||||rs9625297||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27698575C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=27142;gnomADv4_1_AC_joint_XX=13837;gnomADv4_1_AC_joint_XY=13305;gnomADv4_1_AF_grpmax_joint=0.214828;gnomADv4_1_AF_joint=0.178488;gnomADv4_1_AF_joint_XX=0.177995;gnomADv4_1_AF_joint_XY=0.179004;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2713;gnomADv4_1_nhomalt_joint_XX=1400;gnomADv4_1_nhomalt_joint_XY=1313;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27698612 chr22_27698612_G_A G A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.275;CADD_Rawscore=-0.344314;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-911C>T|||||||rs9625298||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27698612G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-22405C>T|||||||rs9625298||-1||||||||||||Ensembl||G|G||||chr22:g.27698612G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-911C>T|||||||rs9625298||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27698612G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=27163;gnomADv4_1_AC_joint_XX=13833;gnomADv4_1_AC_joint_XY=13330;gnomADv4_1_AF_grpmax_joint=0.214614;gnomADv4_1_AF_joint=0.178577;gnomADv4_1_AF_joint_XX=0.177912;gnomADv4_1_AF_joint_XY=0.179273;gnomADv4_1_AN_grpmax_joint=67978;gnomADv4_1_AN_joint=152108;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2704;gnomADv4_1_nhomalt_joint_XX=1395;gnomADv4_1_nhomalt_joint_XY=1309;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27698847 chr22_27698847_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.413;CADD_Rawscore=-0.241241;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-1146C>T|||||||rs1885364||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27698847G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-22640C>T|||||||rs1885364||-1||||||||||||Ensembl||G|G||||chr22:g.27698847G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-1146C>T|||||||rs1885364||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27698847G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=69891;gnomADv4_1_AC_joint_XX=35552;gnomADv4_1_AC_joint_XY=34339;gnomADv4_1_AF_grpmax_joint=0.556633;gnomADv4_1_AF_joint=0.459755;gnomADv4_1_AF_joint_XX=0.457508;gnomADv4_1_AF_joint_XY=0.462105;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16863;gnomADv4_1_nhomalt_joint_XX=8543;gnomADv4_1_nhomalt_joint_XY=8320;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27698991 chr22_27698991_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=6.83;CADD_Rawscore=0.63973;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-1290G>A|||||||rs5762317||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27698991C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-22784G>A|||||||rs5762317||-1||||||||||||Ensembl||C|C||||chr22:g.27698991C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-1290G>A|||||||rs5762317||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27698991C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=15265;gnomADv4_1_AC_joint_XX=7755;gnomADv4_1_AC_joint_XY=7510;gnomADv4_1_AF_grpmax_joint=0.332171;gnomADv4_1_AF_joint=0.100327;gnomADv4_1_AF_joint_XX=0.0997197;gnomADv4_1_AF_joint_XY=0.100963;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1675;gnomADv4_1_nhomalt_joint_XX=865;gnomADv4_1_nhomalt_joint_XY=810;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27699242 chr22_27699242_T_A T A 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.061;CADD_Rawscore=-0.745798;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-1541A>T|||||||rs12167680||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27699242T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-23035A>T|||||||rs12167680||-1||||||||||||Ensembl||T|T||||chr22:g.27699242T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-1541A>T|||||||rs12167680||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27699242T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=27124;gnomADv4_1_AC_joint_XX=13818;gnomADv4_1_AC_joint_XY=13306;gnomADv4_1_AF_grpmax_joint=0.213924;gnomADv4_1_AF_joint=0.178255;gnomADv4_1_AF_joint_XX=0.177669;gnomADv4_1_AF_joint_XY=0.178868;gnomADv4_1_AN_grpmax_joint=67996;gnomADv4_1_AN_joint=152164;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2714;gnomADv4_1_nhomalt_joint_XX=1399;gnomADv4_1_nhomalt_joint_XY=1315;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27699490 chr22_27699490_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=3.351;CADD_Rawscore=0.307169;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-1789C>T|||||||rs5752612||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27699490G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-23283C>T|||||||rs5752612||-1||||||||||||Ensembl||G|G||||chr22:g.27699490G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-1789C>T|||||||rs5752612||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27699490G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=69867;gnomADv4_1_AC_joint_XX=35543;gnomADv4_1_AC_joint_XY=34324;gnomADv4_1_AF_grpmax_joint=0.557926;gnomADv4_1_AF_joint=0.459839;gnomADv4_1_AF_joint_XX=0.457462;gnomADv4_1_AF_joint_XY=0.462326;gnomADv4_1_AN_grpmax_joint=5110;gnomADv4_1_AN_joint=151938;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16855;gnomADv4_1_nhomalt_joint_XX=8537;gnomADv4_1_nhomalt_joint_XY=8318;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27699785 chr22_27699785_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=14.15;CADD_Rawscore=1.49336;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-2084C>T|||||||rs5752613||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27699785G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-23578C>T|||||||rs5752613||-1||||||||||||Ensembl||G|G||||chr22:g.27699785G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-2084C>T|||||||rs5752613||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27699785G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=62959;gnomADv4_1_AC_joint_XX=32094;gnomADv4_1_AC_joint_XY=30865;gnomADv4_1_AF_grpmax_joint=0.50078;gnomADv4_1_AF_joint=0.413959;gnomADv4_1_AF_joint_XX=0.41287;gnomADv4_1_AF_joint_XY=0.415098;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=152090;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13994;gnomADv4_1_nhomalt_joint_XX=7115;gnomADv4_1_nhomalt_joint_XY=6879;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27700459 chr22_27700459_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.526;CADD_Rawscore=-0.180504;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-2758C>T|||||||rs5762318||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27700459G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-24252C>T|||||||rs5762318||-1||||||||||||Ensembl||G|G||||chr22:g.27700459G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-2758C>T|||||||rs5762318||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27700459G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=15155;gnomADv4_1_AC_joint_XX=7683;gnomADv4_1_AC_joint_XY=7472;gnomADv4_1_AF_grpmax_joint=0.333656;gnomADv4_1_AF_joint=0.0995978;gnomADv4_1_AF_joint_XX=0.0987786;gnomADv4_1_AF_joint_XY=0.100454;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1651;gnomADv4_1_nhomalt_joint_XX=848;gnomADv4_1_nhomalt_joint_XY=803;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27700742 chr22_27700742_A_G A G 54 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.781;CADD_Rawscore=0.253045;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-3041T>C|||||||rs12169523||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27700742A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-24535T>C|||||||rs12169523||-1||||||||||||Ensembl||A|A||||chr22:g.27700742A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-3041T>C|||||||rs12169523||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27700742A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=27641;gnomADv4_1_AC_joint_XX=14093;gnomADv4_1_AC_joint_XY=13548;gnomADv4_1_AF_grpmax_joint=0.219253;gnomADv4_1_AF_joint=0.18181;gnomADv4_1_AF_joint_XX=0.181237;gnomADv4_1_AF_joint_XY=0.182411;gnomADv4_1_AN_grpmax_joint=67958;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2817;gnomADv4_1_nhomalt_joint_XX=1458;gnomADv4_1_nhomalt_joint_XY=1359;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27700822 chr22_27700822_C_A C A 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=2.037;CADD_Rawscore=0.168743;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-3121G>T|||||||rs77250638||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27700822C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-24615G>T|||||||rs77250638||-1||||||||||||Ensembl||C|C||||chr22:g.27700822C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-3121G>T|||||||rs77250638||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27700822C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=4434;gnomADv4_1_AC_joint_XX=2305;gnomADv4_1_AC_joint_XY=2129;gnomADv4_1_AF_grpmax_joint=0.0986395;gnomADv4_1_AF_joint=0.0291224;gnomADv4_1_AF_joint_XX=0.0296242;gnomADv4_1_AF_joint_XY=0.0285979;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152254;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=99;gnomADv4_1_nhomalt_joint_XX=54;gnomADv4_1_nhomalt_joint_XY=45;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27700965 chr22_27700965_C_A;chr22_27700965_C_T C A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.252;CADD_Rawscore=0.040683;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-3264G>T|||||||rs5762319||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27700965C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-24758G>T|||||||rs5762319||-1||||||||||||Ensembl||C|C||||chr22:g.27700965C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-3264G>T|||||||rs5762319||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27700965C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=123011;gnomADv4_1_AC_joint_XX=62777;gnomADv4_1_AC_joint_XY=60234;gnomADv4_1_AF_grpmax_joint=0.94645;gnomADv4_1_AF_joint=0.808188;gnomADv4_1_AF_joint_XX=0.807089;gnomADv4_1_AF_joint_XY=0.809336;gnomADv4_1_AN_grpmax_joint=68030;gnomADv4_1_AN_joint=152206;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=52258;gnomADv4_1_nhomalt_joint_XX=26659;gnomADv4_1_nhomalt_joint_XY=25599;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27700965 chr22_27700965_C_A;chr22_27700965_C_T C T 53 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.528;CADD_Rawscore=0.092981;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-3264G>A|||||||rs5762319||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27700965C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-24758G>A|||||||rs5762319||-1||||||||||||Ensembl||C|C||||chr22:g.27700965C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-3264G>A|||||||rs5762319||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27700965C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=4430;gnomADv4_1_AC_joint_XX=2301;gnomADv4_1_AC_joint_XY=2129;gnomADv4_1_AF_grpmax_joint=0.0986395;gnomADv4_1_AF_joint=0.0291022;gnomADv4_1_AF_joint_XX=0.0295796;gnomADv4_1_AF_joint_XY=0.0286033;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152222;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=98;gnomADv4_1_nhomalt_joint_XX=54;gnomADv4_1_nhomalt_joint_XY=44;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27701110 chr22_27701110_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.646;CADD_Rawscore=0.333762;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-3409A>G|||||||rs8138177||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27701110T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-24903A>G|||||||rs8138177||-1||||||||||||Ensembl||T|T||||chr22:g.27701110T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-3409A>G|||||||rs8138177||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27701110T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=142615;gnomADv4_1_AC_joint_XX=72760;gnomADv4_1_AC_joint_XY=69855;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.937245;gnomADv4_1_AF_joint_XX=0.9357;gnomADv4_1_AF_joint_XY=0.938861;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152164;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67541;gnomADv4_1_nhomalt_joint_XX=34410;gnomADv4_1_nhomalt_joint_XY=33131;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27701241 chr22_27701241_C_CT C CT 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=41;CADDIndel_PHREDscore=0.783;CADDIndel_Rawscore=-0.08059;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-3541dup|||||||rs530838503||-1||HGNC|HGNC:55992|3||||||||Ensembl|||||||chr22:g.27701261dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-25035dup|||||||rs530838503||-1||||||||||||Ensembl|||||||chr22:g.27701261dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-3541dup|||||||rs530838503||-1||EntrezGene|HGNC:55992|||||||||RefSeq|||||||chr22:g.27701261dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=34075;gnomADv4_1_AC_joint_XX=18186;gnomADv4_1_AC_joint_XY=15889;gnomADv4_1_AF_grpmax_joint=0.476654;gnomADv4_1_AF_joint=0.275701;gnomADv4_1_AF_joint_XX=0.278781;gnomADv4_1_AF_joint_XY=0.272258;gnomADv4_1_AN_grpmax_joint=4112;gnomADv4_1_AN_joint=123594;gnomADv4_1_AN_joint_XX=65234;gnomADv4_1_AN_joint_XY=58360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5231;gnomADv4_1_nhomalt_joint_XX=2768;gnomADv4_1_nhomalt_joint_XY=2463;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27701311 chr22_27701311_G_C G C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.645;CADD_Rawscore=-0.129286;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-3610C>G|||||||rs5762320||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27701311G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-25104C>G|||||||rs5762320||-1||||||||||||Ensembl||G|G||||chr22:g.27701311G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-3610C>G|||||||rs5762320||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27701311G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=125941;gnomADv4_1_AC_joint_XX=64501;gnomADv4_1_AC_joint_XY=61440;gnomADv4_1_AF_grpmax_joint=0.985041;gnomADv4_1_AF_joint=0.841514;gnomADv4_1_AF_joint_XX=0.841215;gnomADv4_1_AF_joint_XY=0.841828;gnomADv4_1_AN_grpmax_joint=67784;gnomADv4_1_AN_joint=149660;gnomADv4_1_AN_joint_XX=76676;gnomADv4_1_AN_joint_XY=72984;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=55692;gnomADv4_1_nhomalt_joint_XX=28554;gnomADv4_1_nhomalt_joint_XY=27138;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27701971 chr22_27701971_C_T C T 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.086;CADD_Rawscore=0.003496;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-4270G>A|||||||rs113434756||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27701971C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-25764G>A|||||||rs113434756||-1||||||||||||Ensembl||C|C||||chr22:g.27701971C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-4270G>A|||||||rs113434756||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27701971C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=4439;gnomADv4_1_AC_joint_XX=2307;gnomADv4_1_AC_joint_XY=2132;gnomADv4_1_AF_grpmax_joint=0.0986395;gnomADv4_1_AF_joint=0.0291353;gnomADv4_1_AF_joint_XX=0.0296286;gnomADv4_1_AF_joint_XY=0.0286198;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152358;gnomADv4_1_AN_joint_XX=77864;gnomADv4_1_AN_joint_XY=74494;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=99;gnomADv4_1_nhomalt_joint_XX=54;gnomADv4_1_nhomalt_joint_XY=45;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27702031 chr22_27702031_G_A G A 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.599;CADD_Rawscore=0.104886;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-4330C>T|||||||rs5752614||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27702031G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-25824C>T|||||||rs5752614||-1||||||||||||Ensembl||G|G||||chr22:g.27702031G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-4330C>T|||||||rs5752614||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27702031G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=117405;gnomADv4_1_AC_joint_XX=60004;gnomADv4_1_AC_joint_XY=57401;gnomADv4_1_AF_grpmax_joint=0.918445;gnomADv4_1_AF_joint=0.771052;gnomADv4_1_AF_joint_XX=0.7712;gnomADv4_1_AF_joint_XY=0.770897;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152266;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=47909;gnomADv4_1_nhomalt_joint_XX=24520;gnomADv4_1_nhomalt_joint_XY=23389;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27702112 chr22_27702112_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.87;CADD_Rawscore=0.146154;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-4411G>A|||||||rs5762321||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27702112C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-25905G>A|||||||rs5762321||-1||||||||||||Ensembl||C|C||||chr22:g.27702112C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-4411G>A|||||||rs5762321||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27702112C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=15210;gnomADv4_1_AC_joint_XX=7701;gnomADv4_1_AC_joint_XY=7509;gnomADv4_1_AF_grpmax_joint=0.334046;gnomADv4_1_AF_joint=0.0999067;gnomADv4_1_AF_joint_XX=0.0989973;gnomADv4_1_AF_joint_XY=0.100857;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=152242;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1670;gnomADv4_1_nhomalt_joint_XX=858;gnomADv4_1_nhomalt_joint_XY=812;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27702146 chr22_27702146_C_A C A 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.841;CADD_Rawscore=-0.062499;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.214-4445G>T|||||||rs9608642||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27702146C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-25939G>T|||||||rs9608642||-1||||||||||||Ensembl||C|C||||chr22:g.27702146C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.214-4445G>T|||||||rs9608642||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27702146C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=45936;gnomADv4_1_AC_joint_XX=23633;gnomADv4_1_AC_joint_XY=22303;gnomADv4_1_AF_grpmax_joint=0.404762;gnomADv4_1_AF_joint=0.302063;gnomADv4_1_AF_joint_XX=0.303977;gnomADv4_1_AF_joint_XY=0.300062;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7942;gnomADv4_1_nhomalt_joint_XX=4102;gnomADv4_1_nhomalt_joint_XY=3840;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27702328 chr22_27702328_C_G C G 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.194;CADD_Rawscore=-0.435541;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+4366G>C|||||||rs5752615||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27702328C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-26121G>C|||||||rs5752615||-1||||||||||||Ensembl||C|C||||chr22:g.27702328C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+4366G>C|||||||rs5752615||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27702328C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=110994;gnomADv4_1_AC_joint_XX=56822;gnomADv4_1_AC_joint_XY=54172;gnomADv4_1_AF_grpmax_joint=0.894074;gnomADv4_1_AF_joint=0.729619;gnomADv4_1_AF_joint_XX=0.730942;gnomADv4_1_AF_joint_XY=0.728236;gnomADv4_1_AN_grpmax_joint=68010;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=43549;gnomADv4_1_nhomalt_joint_XX=22367;gnomADv4_1_nhomalt_joint_XY=21182;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27702438 chr22_27702438_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.68;CADD_Rawscore=-0.116048;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+4256C>T|||||||rs12166243||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27702438G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-26231C>T|||||||rs12166243||-1||||||||||||Ensembl||G|G||||chr22:g.27702438G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+4256C>T|||||||rs12166243||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27702438G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=27710;gnomADv4_1_AC_joint_XX=14105;gnomADv4_1_AC_joint_XY=13605;gnomADv4_1_AF_grpmax_joint=0.218936;gnomADv4_1_AF_joint=0.182164;gnomADv4_1_AF_joint_XX=0.181373;gnomADv4_1_AF_joint_XY=0.182991;gnomADv4_1_AN_grpmax_joint=67988;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2825;gnomADv4_1_nhomalt_joint_XX=1453;gnomADv4_1_nhomalt_joint_XY=1372;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27702568 chr22_27702568_C_T C T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.767;CADD_Rawscore=-0.085798;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+4126G>A|||||||rs6005575||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27702568C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-26361G>A|||||||rs6005575||-1||||||||||||Ensembl||C|C||||chr22:g.27702568C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+4126G>A|||||||rs6005575||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27702568C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=15707;gnomADv4_1_AC_joint_XX=7979;gnomADv4_1_AC_joint_XY=7728;gnomADv4_1_AF_grpmax_joint=0.334761;gnomADv4_1_AF_joint=0.103356;gnomADv4_1_AF_joint_XX=0.102703;gnomADv4_1_AF_joint_XY=0.104039;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=151970;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1784;gnomADv4_1_nhomalt_joint_XX=925;gnomADv4_1_nhomalt_joint_XY=859;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27702680 chr22_27702680_G_A G A 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=4.312;CADD_Rawscore=0.393049;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs6005576|4900|1||||3||||||||Ensembl||G|G||||chr22:g.27702680G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+4014C>T|||||||rs6005576||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27702680G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-26473C>T|||||||rs6005576||-1||||||||||||Ensembl||G|G||||chr22:g.27702680G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+4014C>T|||||||rs6005576||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27702680G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=45747;gnomADv4_1_AC_joint_XX=23538;gnomADv4_1_AC_joint_XY=22209;gnomADv4_1_AF_grpmax_joint=0.407534;gnomADv4_1_AF_joint=0.300979;gnomADv4_1_AF_joint_XX=0.302981;gnomADv4_1_AF_joint_XY=0.298886;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7887;gnomADv4_1_nhomalt_joint_XX=4075;gnomADv4_1_nhomalt_joint_XY=3812;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27702743 chr22_27702743_G_A G A 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=5.06;CADD_Rawscore=0.461435;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs6005577|4837|1||||3||||||||Ensembl||G|G||||chr22:g.27702743G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+3951C>T|||||||rs6005577||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27702743G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-26536C>T|||||||rs6005577||-1||||||||||||Ensembl||G|G||||chr22:g.27702743G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+3951C>T|||||||rs6005577||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27702743G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=45179;gnomADv4_1_AC_joint_XX=23366;gnomADv4_1_AC_joint_XY=21813;gnomADv4_1_AF_grpmax_joint=0.407534;gnomADv4_1_AF_joint=0.297846;gnomADv4_1_AF_joint_XX=0.301287;gnomADv4_1_AF_joint_XY=0.294245;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151686;gnomADv4_1_AN_joint_XX=77554;gnomADv4_1_AN_joint_XY=74132;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7746;gnomADv4_1_nhomalt_joint_XX=4043;gnomADv4_1_nhomalt_joint_XY=3703;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27702834 chr22_27702834_A_C A C 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=5.382;CADD_Rawscore=0.492181;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs61695114|4746|1||||3||||||||Ensembl||A|A||||chr22:g.27702834A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+3860T>G|||||||rs61695114||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27702834A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-26627T>G|||||||rs61695114||-1||||||||||||Ensembl||A|A||||chr22:g.27702834A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+3860T>G|||||||rs61695114||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27702834A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=29325;gnomADv4_1_AC_joint_XX=14846;gnomADv4_1_AC_joint_XY=14479;gnomADv4_1_AF_grpmax_joint=0.225425;gnomADv4_1_AF_joint=0.193823;gnomADv4_1_AF_joint_XX=0.191695;gnomADv4_1_AF_joint_XY=0.196054;gnomADv4_1_AN_grpmax_joint=67854;gnomADv4_1_AN_joint=151298;gnomADv4_1_AN_joint_XX=77446;gnomADv4_1_AN_joint_XY=73852;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3139;gnomADv4_1_nhomalt_joint_XX=1586;gnomADv4_1_nhomalt_joint_XY=1553;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27702862 chr22_27702862_T_C T C 60 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=7.58;CADD_Rawscore=0.721891;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs76528230|4718|1||||3||||||||Ensembl||T|T||||chr22:g.27702862T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+3832A>G|||||||rs76528230||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27702862T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-26655A>G|||||||rs76528230||-1||||||||||||Ensembl||T|T||||chr22:g.27702862T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+3832A>G|||||||rs76528230||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27702862T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=126759;gnomADv4_1_AC_joint_XX=64975;gnomADv4_1_AC_joint_XY=61784;gnomADv4_1_AF_grpmax_joint=0.907919;gnomADv4_1_AF_joint=0.841057;gnomADv4_1_AF_joint_XX=0.841841;gnomADv4_1_AF_joint_XY=0.840233;gnomADv4_1_AN_grpmax_joint=67810;gnomADv4_1_AN_joint=150714;gnomADv4_1_AN_joint_XX=77182;gnomADv4_1_AN_joint_XY=73532;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=53724;gnomADv4_1_nhomalt_joint_XX=27561;gnomADv4_1_nhomalt_joint_XY=26163;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 27702921 chr22_27702921_C_CAAAA C CAAAA 15 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=15;CADDIndel_PHREDscore=1.653;CADDIndel_Rawscore=0.113672;CSQ=AAAA|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs201356100|4658|1||||3||||||||Ensembl|||||||chr22:g.27702935_27702938dup|||||||||||||,AAAA|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+3769_213+3772dup|||||||rs201356100||-1||HGNC|HGNC:55992|3||||||||Ensembl|||||||chr22:g.27702935_27702938dup|||||||||||||,AAAA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-26718_392-26715dup|||||||rs201356100||-1||||||||||||Ensembl|||||||chr22:g.27702935_27702938dup|||||||||||||,AAAA|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+3769_213+3772dup|||||||rs201356100||-1||EntrezGene|HGNC:55992|||||||||RefSeq|||||||chr22:g.27702935_27702938dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAA,AAAA,AAAA,AAAA;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=3701;gnomADv4_1_AC_joint_XX=2030;gnomADv4_1_AC_joint_XY=1671;gnomADv4_1_AF_grpmax_joint=0.103659;gnomADv4_1_AF_joint=0.0449685;gnomADv4_1_AF_joint_XX=0.0463809;gnomADv4_1_AF_joint_XY=0.0433643;gnomADv4_1_AN_grpmax_joint=164;gnomADv4_1_AN_joint=82302;gnomADv4_1_AN_joint_XX=43768;gnomADv4_1_AN_joint_XY=38534;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=79;gnomADv4_1_nhomalt_joint_XX=45;gnomADv4_1_nhomalt_joint_XY=34;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27703363 chr22_27703363_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.345;CADD_Rawscore=0.059574;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs2065036|4217|1||||3||||||||Ensembl||C|C||||chr22:g.27703363C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+3331G>A|||||||rs2065036||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27703363C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-27156G>A|||||||rs2065036||-1||||||||||||Ensembl||C|C||||chr22:g.27703363C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+3331G>A|||||||rs2065036||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27703363C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=85484;gnomADv4_1_AC_joint_XX=43984;gnomADv4_1_AC_joint_XY=41500;gnomADv4_1_AF_grpmax_joint=0.646259;gnomADv4_1_AF_joint=0.562669;gnomADv4_1_AF_joint_XX=0.566191;gnomADv4_1_AF_joint_XY=0.558983;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151926;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=24968;gnomADv4_1_nhomalt_joint_XX=12917;gnomADv4_1_nhomalt_joint_XY=12051;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27703409 chr22_27703409_G_A G A 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.926;CADD_Rawscore=-0.037702;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs73883612|4171|1||||3||||||||Ensembl||G|G||||chr22:g.27703409G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+3285C>T|||||||rs73883612||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27703409G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-27202C>T|||||||rs73883612||-1||||||||||||Ensembl||G|G||||chr22:g.27703409G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+3285C>T|||||||rs73883612||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27703409G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=148017;gnomADv4_1_AC_joint_XX=75596;gnomADv4_1_AC_joint_XY=72421;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.972159;gnomADv4_1_AF_joint_XX=0.971421;gnomADv4_1_AF_joint_XY=0.97293;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152256;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=72074;gnomADv4_1_nhomalt_joint_XX=36776;gnomADv4_1_nhomalt_joint_XY=35298;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27703481 chr22_27703481_G_A G A 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.528;CADD_Rawscore=-0.179321;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs73433110|4099|1||||3||||||||Ensembl||G|G||||chr22:g.27703481G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+3213C>T|||||||rs73433110||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27703481G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-27274C>T|||||||rs73433110||-1||||||||||||Ensembl||G|G||||chr22:g.27703481G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+3213C>T|||||||rs73433110||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27703481G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=17608;gnomADv4_1_AC_joint_XX=9337;gnomADv4_1_AC_joint_XY=8271;gnomADv4_1_AF_grpmax_joint=0.282115;gnomADv4_1_AF_joint=0.115813;gnomADv4_1_AF_joint_XX=0.120139;gnomADv4_1_AF_joint_XY=0.111289;gnomADv4_1_AN_grpmax_joint=41398;gnomADv4_1_AN_joint=152038;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1816;gnomADv4_1_nhomalt_joint_XX=994;gnomADv4_1_nhomalt_joint_XY=822;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27703651 chr22_27703651_G_A G A 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.365;CADD_Rawscore=-0.27248;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs2065037|3929|1||||3||||||||Ensembl||G|G||||chr22:g.27703651G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+3043C>T|||||||rs2065037||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27703651G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-27444C>T|||||||rs2065037||-1||||||||||||Ensembl||G|G||||chr22:g.27703651G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+3043C>T|||||||rs2065037||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27703651G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=40890;gnomADv4_1_AC_joint_XX=20407;gnomADv4_1_AC_joint_XY=20483;gnomADv4_1_AF_grpmax_joint=0.497678;gnomADv4_1_AF_joint=0.268769;gnomADv4_1_AF_joint_XX=0.262422;gnomADv4_1_AF_joint_XY=0.275405;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6119;gnomADv4_1_nhomalt_joint_XX=2988;gnomADv4_1_nhomalt_joint_XY=3131;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27703780 chr22_27703780_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.64;CADD_Rawscore=-0.131478;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs4820770|3800|1||||3||||||||Ensembl||T|T||||chr22:g.27703780T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+2914A>G|||||||rs4820770||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27703780T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-27573A>G|||||||rs4820770||-1||||||||||||Ensembl||T|T||||chr22:g.27703780T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+2914A>G|||||||rs4820770||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27703780T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=49988;gnomADv4_1_AC_joint_XX=24976;gnomADv4_1_AC_joint_XY=25012;gnomADv4_1_AF_grpmax_joint=0.60428;gnomADv4_1_AF_joint=0.328977;gnomADv4_1_AF_joint_XX=0.321458;gnomADv4_1_AF_joint_XY=0.336844;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151950;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8771;gnomADv4_1_nhomalt_joint_XX=4262;gnomADv4_1_nhomalt_joint_XY=4509;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27703910 chr22_27703910_G_A G A 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=2.276;CADD_Rawscore=0.198329;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs141961217|3670|1||||3||||||||Ensembl||G|G||||chr22:g.27703910G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+2784C>T|||||||rs141961217||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27703910G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-27703C>T|||||||rs141961217||-1||||||||||||Ensembl||G|G||||chr22:g.27703910G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+2784C>T|||||||rs141961217||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27703910G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=8;gnomADv4_1_AC_joint_XX=2;gnomADv4_1_AC_joint_XY=6;gnomADv4_1_AF_grpmax_joint=4.41112e-05;gnomADv4_1_AF_joint=5.26274e-05;gnomADv4_1_AF_joint_XX=2.57195e-05;gnomADv4_1_AF_joint_XY=8.08081e-05;gnomADv4_1_AN_grpmax_joint=68010;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27703913 chr22_27703913_C_T C T 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=4.971;CADD_Rawscore=0.453108;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs5752616|3667|1||||3||||||||Ensembl||C|C||||chr22:g.27703913C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+2781G>A|||||||rs5752616||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27703913C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-27706G>A|||||||rs5752616||-1||||||||||||Ensembl||C|C||||chr22:g.27703913C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+2781G>A|||||||rs5752616||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27703913C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=5085;gnomADv4_1_AC_joint_XX=2326;gnomADv4_1_AC_joint_XY=2759;gnomADv4_1_AF_grpmax_joint=0.300155;gnomADv4_1_AF_joint=0.0334038;gnomADv4_1_AF_joint_XX=0.0298964;gnomADv4_1_AF_joint_XY=0.0370704;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152228;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=359;gnomADv4_1_nhomalt_joint_XX=163;gnomADv4_1_nhomalt_joint_XY=196;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27704221 chr22_27704221_G_A G A 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.235;CADD_Rawscore=0.037106;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs5752618|3359|1||||3||||||||Ensembl||G|G||||chr22:g.27704221G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+2473C>T|||||||rs5752618||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27704221G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-28014C>T|||||||rs5752618||-1||||||||||||Ensembl||G|G||||chr22:g.27704221G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+2473C>T|||||||rs5752618||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27704221G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=27441;gnomADv4_1_AC_joint_XX=13553;gnomADv4_1_AC_joint_XY=13888;gnomADv4_1_AF_grpmax_joint=0.44364;gnomADv4_1_AF_joint=0.180671;gnomADv4_1_AF_joint_XX=0.174562;gnomADv4_1_AF_joint_XY=0.187059;gnomADv4_1_AN_grpmax_joint=5110;gnomADv4_1_AN_joint=151884;gnomADv4_1_AN_joint_XX=77640;gnomADv4_1_AN_joint_XY=74244;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2872;gnomADv4_1_nhomalt_joint_XX=1358;gnomADv4_1_nhomalt_joint_XY=1514;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27704263 chr22_27704263_G_A G A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=8.033;CADD_Rawscore=0.772426;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs5752619|3317|1||||3||||||||Ensembl||G|G||||chr22:g.27704263G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+2431C>T|||||||rs5752619||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27704263G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-28056C>T|||||||rs5752619||-1||||||||||||Ensembl||G|G||||chr22:g.27704263G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+2431C>T|||||||rs5752619||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27704263G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=26889;gnomADv4_1_AC_joint_XX=13250;gnomADv4_1_AC_joint_XY=13639;gnomADv4_1_AF_grpmax_joint=0.444162;gnomADv4_1_AF_joint=0.176974;gnomADv4_1_AF_joint_XX=0.170545;gnomADv4_1_AF_joint_XY=0.1837;gnomADv4_1_AN_grpmax_joint=5122;gnomADv4_1_AN_joint=151938;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74246;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2776;gnomADv4_1_nhomalt_joint_XX=1297;gnomADv4_1_nhomalt_joint_XY=1479;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27704383 chr22_27704383_CCTGGGGACCCATCT_C CCTGGGGACCCATCT C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=21.4;CADDIndel_Rawscore=3.08078;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs66743616|3183|1||||3||||||||Ensembl||CTGGGGACCCATCT|CTGGGGACCCATCT||||chr22:g.27704386_27704399del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+2297_213+2310del|||||||rs66743616||-1||HGNC|HGNC:55992|3||||||||Ensembl||CTGGGGACCCATCT|CTGGGGACCCATCT||||chr22:g.27704386_27704399del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-28190_392-28177del|||||||rs66743616||-1||||||||||||Ensembl||CTGGGGACCCATCT|CTGGGGACCCATCT||||chr22:g.27704386_27704399del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+2297_213+2310del|||||||rs66743616||-1||EntrezGene|HGNC:55992|||||||||RefSeq||CTGGGGACCCATCT|CTGGGGACCCATCT||||chr22:g.27704386_27704399del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=29626;gnomADv4_1_AC_joint_XX=14723;gnomADv4_1_AC_joint_XY=14903;gnomADv4_1_AF_grpmax_joint=0.441715;gnomADv4_1_AF_joint=0.194959;gnomADv4_1_AF_joint_XX=0.189471;gnomADv4_1_AF_joint_XY=0.200703;gnomADv4_1_AN_grpmax_joint=5130;gnomADv4_1_AN_joint=151960;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3361;gnomADv4_1_nhomalt_joint_XX=1613;gnomADv4_1_nhomalt_joint_XY=1748;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27704419 chr22_27704419_C_T C T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=12.44;CADD_Rawscore=1.23383;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs73883613|3161|1||||3||||||||Ensembl||C|C||||chr22:g.27704419C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+2275G>A|||||||rs73883613||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27704419C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-28212G>A|||||||rs73883613||-1||||||||||||Ensembl||C|C||||chr22:g.27704419C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+2275G>A|||||||rs73883613||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27704419C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=137551;gnomADv4_1_AC_joint_XX=70219;gnomADv4_1_AC_joint_XY=67332;gnomADv4_1_AF_grpmax_joint=0.973888;gnomADv4_1_AF_joint=0.904191;gnomADv4_1_AF_joint_XX=0.902976;gnomADv4_1_AF_joint_XY=0.905462;gnomADv4_1_AN_grpmax_joint=68016;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=62802;gnomADv4_1_nhomalt_joint_XX=32004;gnomADv4_1_nhomalt_joint_XY=30798;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27704438 chr22_27704438_T_C T C 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=6.84;CADD_Rawscore=0.640774;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs5762322|3142|1||||3||||||||Ensembl||T|T||||chr22:g.27704438T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+2256A>G|||||||rs5762322||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27704438T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-28231A>G|||||||rs5762322||-1||||||||||||Ensembl||T|T||||chr22:g.27704438T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+2256A>G|||||||rs5762322||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27704438T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=29830;gnomADv4_1_AC_joint_XX=14808;gnomADv4_1_AC_joint_XY=15022;gnomADv4_1_AF_grpmax_joint=0.454616;gnomADv4_1_AF_joint=0.1961;gnomADv4_1_AF_joint_XX=0.190437;gnomADv4_1_AF_joint_XY=0.202023;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3444;gnomADv4_1_nhomalt_joint_XX=1652;gnomADv4_1_nhomalt_joint_XY=1792;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27704761 chr22_27704761_T_G T G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.956;CADD_Rawscore=-0.029441;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs6519721|2819|1||||3||||||||Ensembl||T|T||||chr22:g.27704761T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+1933A>C|||||||rs6519721||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27704761T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-28554A>C|||||||rs6519721||-1||||||||||||Ensembl||T|T||||chr22:g.27704761T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+1933A>C|||||||rs6519721||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27704761T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=142799;gnomADv4_1_AC_joint_XX=72970;gnomADv4_1_AC_joint_XY=69829;gnomADv4_1_AF_grpmax_joint=0.998442;gnomADv4_1_AF_joint=0.93774;gnomADv4_1_AF_joint_XX=0.937701;gnomADv4_1_AF_joint_XY=0.93778;gnomADv4_1_AN_grpmax_joint=68038;gnomADv4_1_AN_joint=152280;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=67430;gnomADv4_1_nhomalt_joint_XX=34440;gnomADv4_1_nhomalt_joint_XY=32990;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27704989 chr22_27704989_G_C G C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.92;CADD_Rawscore=-0.039384;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs5762323|2591|1||||3||||||||Ensembl||G|G||||chr22:g.27704989G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+1705C>G|||||||rs5762323||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27704989G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-28782C>G|||||||rs5762323||-1||||||||||||Ensembl||G|G||||chr22:g.27704989G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+1705C>G|||||||rs5762323||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27704989G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=24502;gnomADv4_1_AC_joint_XX=12251;gnomADv4_1_AC_joint_XY=12251;gnomADv4_1_AF_grpmax_joint=0.336445;gnomADv4_1_AF_joint=0.161064;gnomADv4_1_AF_joint_XX=0.157565;gnomADv4_1_AF_joint_XY=0.164722;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2430;gnomADv4_1_nhomalt_joint_XX=1161;gnomADv4_1_nhomalt_joint_XY=1269;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27705267 chr22_27705267_C_T C T 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=6.727;CADD_Rawscore=0.628734;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs7290472|2313|1||||3||||||||Ensembl||C|C||||chr22:g.27705267C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+1427G>A|||||||rs7290472||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27705267C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-29060G>A|||||||rs7290472||-1||||||||||||Ensembl||C|C||||chr22:g.27705267C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+1427G>A|||||||rs7290472||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27705267C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=14679;gnomADv4_1_AC_joint_XX=7801;gnomADv4_1_AC_joint_XY=6878;gnomADv4_1_AF_grpmax_joint=0.216998;gnomADv4_1_AF_joint=0.0964366;gnomADv4_1_AF_joint_XX=0.10028;gnomADv4_1_AF_joint_XY=0.0924189;gnomADv4_1_AN_grpmax_joint=41498;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1164;gnomADv4_1_nhomalt_joint_XX=641;gnomADv4_1_nhomalt_joint_XY=523;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27705291 chr22_27705291_G_A G A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.097;CADD_Rawscore=-0.619389;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs1124292|2289|1||||3||||||||Ensembl||G|G||||chr22:g.27705291G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+1403C>T|||||||rs1124292||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27705291G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-29084C>T|||||||rs1124292||-1||||||||||||Ensembl||G|G||||chr22:g.27705291G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+1403C>T|||||||rs1124292||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27705291G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=43763;gnomADv4_1_AC_joint_XX=21876;gnomADv4_1_AC_joint_XY=21887;gnomADv4_1_AF_grpmax_joint=0.594332;gnomADv4_1_AF_joint=0.287854;gnomADv4_1_AF_joint_XX=0.281508;gnomADv4_1_AF_joint_XY=0.294489;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6860;gnomADv4_1_nhomalt_joint_XX=3388;gnomADv4_1_nhomalt_joint_XY=3472;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27705368 chr22_27705368_G_A G A 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.417;CADD_Rawscore=-0.238886;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs9608643|2212|1||||3||||||||Ensembl||G|G||||chr22:g.27705368G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+1326C>T|||||||rs9608643||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27705368G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-29161C>T|||||||rs9608643||-1||||||||||||Ensembl||G|G||||chr22:g.27705368G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+1326C>T|||||||rs9608643||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27705368G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=37144;gnomADv4_1_AC_joint_XX=19230;gnomADv4_1_AC_joint_XY=17914;gnomADv4_1_AF_grpmax_joint=0.35034;gnomADv4_1_AF_joint=0.244237;gnomADv4_1_AF_joint_XX=0.247363;gnomADv4_1_AF_joint_XY=0.240967;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5619;gnomADv4_1_nhomalt_joint_XX=2954;gnomADv4_1_nhomalt_joint_XY=2665;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27705391 chr22_27705391_C_A C A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.634;CADD_Rawscore=-0.133777;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs1124394|2189|1||||3||||||||Ensembl||C|C||||chr22:g.27705391C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+1303G>T|||||||rs1124394||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27705391C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-29184G>T|||||||rs1124394||-1||||||||||||Ensembl||C|C||||chr22:g.27705391C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+1303G>T|||||||rs1124394||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27705391C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=35879;gnomADv4_1_AC_joint_XX=18270;gnomADv4_1_AC_joint_XY=17609;gnomADv4_1_AF_grpmax_joint=0.457408;gnomADv4_1_AF_joint=0.23595;gnomADv4_1_AF_joint_XX=0.23499;gnomADv4_1_AF_joint_XY=0.236954;gnomADv4_1_AN_grpmax_joint=41416;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6158;gnomADv4_1_nhomalt_joint_XX=3165;gnomADv4_1_nhomalt_joint_XY=2993;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27705616 chr22_27705616_C_T C T 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.154;CADD_Rawscore=-0.495433;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs5762324|1964|1||||3||||||||Ensembl||C|C||||chr22:g.27705616C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+1078G>A|||||||rs5762324||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27705616C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-29409G>A|||||||rs5762324||-1||||||||||||Ensembl||C|C||||chr22:g.27705616C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+1078G>A|||||||rs5762324||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27705616C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=15930;gnomADv4_1_AC_joint_XX=7944;gnomADv4_1_AC_joint_XY=7986;gnomADv4_1_AF_grpmax_joint=0.29593;gnomADv4_1_AF_joint=0.104672;gnomADv4_1_AF_joint_XX=0.102126;gnomADv4_1_AF_joint_XY=0.107333;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152190;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1597;gnomADv4_1_nhomalt_joint_XX=766;gnomADv4_1_nhomalt_joint_XY=831;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27705683 chr22_27705683_A_G A G 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=7.883;CADD_Rawscore=0.755733;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs5752620|1897|1||||3||||||||Ensembl||A|A||||chr22:g.27705683A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+1011T>C|||||||rs5752620||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27705683A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-29476T>C|||||||rs5752620||-1||||||||||||Ensembl||A|A||||chr22:g.27705683A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+1011T>C|||||||rs5752620||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27705683A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=35928;gnomADv4_1_AC_joint_XX=18286;gnomADv4_1_AC_joint_XY=17642;gnomADv4_1_AF_grpmax_joint=0.457347;gnomADv4_1_AF_joint=0.236067;gnomADv4_1_AF_joint_XX=0.235129;gnomADv4_1_AF_joint_XY=0.237047;gnomADv4_1_AN_grpmax_joint=41474;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6171;gnomADv4_1_nhomalt_joint_XX=3170;gnomADv4_1_nhomalt_joint_XY=3001;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27705705 chr22_27705705_G_T G T 54 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.769;CADD_Rawscore=-0.085222;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs1885363|1875|1||||3||||||||Ensembl||G|G||||chr22:g.27705705G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+989C>A|||||||rs1885363||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27705705G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-29498C>A|||||||rs1885363||-1||||||||||||Ensembl||G|G||||chr22:g.27705705G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+989C>A|||||||rs1885363||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27705705G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=51153;gnomADv4_1_AC_joint_XX=26295;gnomADv4_1_AC_joint_XY=24858;gnomADv4_1_AF_grpmax_joint=0.4499;gnomADv4_1_AF_joint=0.336228;gnomADv4_1_AF_joint_XX=0.338052;gnomADv4_1_AF_joint_XY=0.33432;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9940;gnomADv4_1_nhomalt_joint_XX=5162;gnomADv4_1_nhomalt_joint_XY=4778;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27705774 chr22_27705774_A_T A T 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=5.159;CADD_Rawscore=0.47079;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs1977167|1806|1||||3||||||||Ensembl||A|A||||chr22:g.27705774A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+920T>A|||||||rs1977167||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27705774A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-29567T>A|||||||rs1977167||-1||||||||||||Ensembl||A|A||||chr22:g.27705774A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+920T>A|||||||rs1977167||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27705774A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=35754;gnomADv4_1_AC_joint_XX=18221;gnomADv4_1_AC_joint_XY=17533;gnomADv4_1_AF_grpmax_joint=0.455627;gnomADv4_1_AF_joint=0.235227;gnomADv4_1_AF_joint_XX=0.234492;gnomADv4_1_AF_joint_XY=0.235995;gnomADv4_1_AN_grpmax_joint=41354;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6082;gnomADv4_1_nhomalt_joint_XX=3131;gnomADv4_1_nhomalt_joint_XY=2951;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27705783 chr22_27705783_A_G A G 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.114;CADD_Rawscore=-0.57593;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs1977168|1797|1||||3||||||||Ensembl||A|A||||chr22:g.27705783A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+911T>C|||||||rs1977168||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27705783A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-29576T>C|||||||rs1977168||-1||||||||||||Ensembl||A|A||||chr22:g.27705783A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+911T>C|||||||rs1977168||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27705783A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=35748;gnomADv4_1_AC_joint_XX=18213;gnomADv4_1_AC_joint_XY=17535;gnomADv4_1_AF_grpmax_joint=0.45566;gnomADv4_1_AF_joint=0.235193;gnomADv4_1_AF_joint_XX=0.234396;gnomADv4_1_AF_joint_XY=0.236028;gnomADv4_1_AN_grpmax_joint=41362;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6080;gnomADv4_1_nhomalt_joint_XX=3128;gnomADv4_1_nhomalt_joint_XY=2952;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27705898 chr22_27705898_A_G A G 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=2.582;CADD_Rawscore=0.232501;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs1985390|1682|1||||3||||||||Ensembl||A|A||||chr22:g.27705898A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+796T>C|||||||rs1985390||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27705898A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-29691T>C|||||||rs1985390||-1||||||||||||Ensembl||A|A||||chr22:g.27705898A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+796T>C|||||||rs1985390||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27705898A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=29349;gnomADv4_1_AC_joint_XX=14912;gnomADv4_1_AC_joint_XY=14437;gnomADv4_1_AF_grpmax_joint=0.240197;gnomADv4_1_AF_joint=0.192776;gnomADv4_1_AF_joint_XX=0.191666;gnomADv4_1_AF_joint_XY=0.193936;gnomADv4_1_AN_grpmax_joint=67986;gnomADv4_1_AN_joint=152244;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3317;gnomADv4_1_nhomalt_joint_XX=1710;gnomADv4_1_nhomalt_joint_XY=1607;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27706050 chr22_27706050_G_T G T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=3.064;CADD_Rawscore=0.280546;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs1124311|1530|1||||3||||||||Ensembl||G|G||||chr22:g.27706050G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+644C>A|||||||rs1124311||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27706050G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-29843C>A|||||||rs1124311||-1||||||||||||Ensembl||G|G||||chr22:g.27706050G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+644C>A|||||||rs1124311||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27706050G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=26430;gnomADv4_1_AC_joint_XX=13395;gnomADv4_1_AC_joint_XY=13035;gnomADv4_1_AF_grpmax_joint=0.216102;gnomADv4_1_AF_joint=0.173781;gnomADv4_1_AF_joint_XX=0.172248;gnomADv4_1_AF_joint_XY=0.175385;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2714;gnomADv4_1_nhomalt_joint_XX=1385;gnomADv4_1_nhomalt_joint_XY=1329;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27706147 chr22_27706147_T_TA T TA 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=1.043;CADDIndel_Rawscore=-0.006958;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs5844786|1432|1||||3||||||||Ensembl|||||||chr22:g.27706148dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+546dup|||||||rs5844786||-1||HGNC|HGNC:55992|3||||||||Ensembl|||||||chr22:g.27706148dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-29941dup|||||||rs5844786||-1||||||||||||Ensembl|||||||chr22:g.27706148dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+546dup|||||||rs5844786||-1||EntrezGene|HGNC:55992|||||||||RefSeq|||||||chr22:g.27706148dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=69815;gnomADv4_1_AC_joint_XX=35639;gnomADv4_1_AC_joint_XY=34176;gnomADv4_1_AF_grpmax_joint=0.502325;gnomADv4_1_AF_joint=0.459485;gnomADv4_1_AF_joint_XX=0.458899;gnomADv4_1_AF_joint_XY=0.460097;gnomADv4_1_AN_grpmax_joint=67952;gnomADv4_1_AN_joint=151942;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16213;gnomADv4_1_nhomalt_joint_XX=8260;gnomADv4_1_nhomalt_joint_XY=7953;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27706383 chr22_27706383_G_T G T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=5.705;CADD_Rawscore=0.523721;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs4820771|1197|1||||3||||||||Ensembl||G|G||||chr22:g.27706383G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+311C>A|||||||rs4820771||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27706383G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-30176C>A|||||||rs4820771||-1||||||||||||Ensembl||G|G||||chr22:g.27706383G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+311C>A|||||||rs4820771||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27706383G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=26648;gnomADv4_1_AC_joint_XX=13515;gnomADv4_1_AC_joint_XY=13133;gnomADv4_1_AF_grpmax_joint=0.509008;gnomADv4_1_AF_joint=0.381503;gnomADv4_1_AF_joint_XX=0.37819;gnomADv4_1_AF_joint_XY=0.384974;gnomADv4_1_AN_grpmax_joint=28862;gnomADv4_1_AN_joint=69850;gnomADv4_1_AN_joint_XX=35736;gnomADv4_1_AN_joint_XY=34114;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2742;gnomADv4_1_nhomalt_joint_XX=1405;gnomADv4_1_nhomalt_joint_XY=1337;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27706392 chr22_27706392_CT_C CT C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=7.429;CADDIndel_Rawscore=0.705129;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs140112032|1187|1||||3||||||||Ensembl||T|T||||chr22:g.27706395del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+301del|||||||rs140112032||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27706395del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-30186del|||||||rs140112032||-1||||||||||||Ensembl||T|T||||chr22:g.27706395del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+301del|||||||rs140112032||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27706395del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=137533;gnomADv4_1_AC_joint_XX=70235;gnomADv4_1_AC_joint_XY=67298;gnomADv4_1_AF_grpmax_joint=0.973974;gnomADv4_1_AF_joint=0.905287;gnomADv4_1_AF_joint_XX=0.904065;gnomADv4_1_AF_joint_XY=0.906566;gnomADv4_1_AN_grpmax_joint=68010;gnomADv4_1_AN_joint=151922;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74234;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=62841;gnomADv4_1_nhomalt_joint_XX=32035;gnomADv4_1_nhomalt_joint_XY=30806;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27706498 chr22_27706498_G_A G A 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.751;CADD_Rawscore=-0.091005;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs4822931|1082|1||||3||||||||Ensembl||G|G||||chr22:g.27706498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+196C>T|||||||rs4822931||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27706498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-30291C>T|||||||rs4822931||-1||||||||||||Ensembl||G|G||||chr22:g.27706498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+196C>T|||||||rs4822931||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27706498G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=59140;gnomADv4_1_AC_joint_XX=30085;gnomADv4_1_AC_joint_XY=29055;gnomADv4_1_AF_grpmax_joint=0.597784;gnomADv4_1_AF_joint=0.389284;gnomADv4_1_AF_joint_XX=0.387374;gnomADv4_1_AF_joint_XY=0.391282;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12238;gnomADv4_1_nhomalt_joint_XX=6181;gnomADv4_1_nhomalt_joint_XY=6057;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27706596 chr22_27706596_T_C T C 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=1.081;CADD_Rawscore=0.002485;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs4820772|984|1||||3||||||||Ensembl||T|T||||chr22:g.27706596T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+98A>G|||||||rs4820772||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27706596T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-30389A>G|||||||rs4820772||-1||||||||||||Ensembl||T|T||||chr22:g.27706596T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+98A>G|||||||rs4820772||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27706596T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=59591;gnomADv4_1_AC_joint_XX=30331;gnomADv4_1_AC_joint_XY=29260;gnomADv4_1_AF_grpmax_joint=0.595922;gnomADv4_1_AF_joint=0.392087;gnomADv4_1_AF_joint_XX=0.390441;gnomADv4_1_AF_joint_XY=0.393809;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151984;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12466;gnomADv4_1_nhomalt_joint_XX=6297;gnomADv4_1_nhomalt_joint_XY=6169;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27706629 chr22_27706629_G_A G A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.907;CADD_Rawscore=-0.043081;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs4820773|951|1||||3||||||||Ensembl||G|G||||chr22:g.27706629G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||2/4|ENST00000440255.1:n.213+65C>T|||||||rs4820773||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27706629G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-30422C>T|||||||rs4820773||-1||||||||||||Ensembl||G|G||||chr22:g.27706629G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||2/4|NR_186699.1:n.213+65C>T|||||||rs4820773||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27706629G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=26970;gnomADv4_1_AC_joint_XX=13698;gnomADv4_1_AC_joint_XY=13272;gnomADv4_1_AF_grpmax_joint=0.215677;gnomADv4_1_AF_joint=0.177388;gnomADv4_1_AF_joint_XX=0.176212;gnomADv4_1_AF_joint_XY=0.178618;gnomADv4_1_AN_grpmax_joint=67972;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2756;gnomADv4_1_nhomalt_joint_XX=1411;gnomADv4_1_nhomalt_joint_XY=1345;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27706896 chr22_27706896_G_A G A 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.401;CADD_Rawscore=-0.248256;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs4820774|684|1||||3||||||||Ensembl||G|G||||chr22:g.27706896G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.91-80C>T|||||||rs4820774||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27706896G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-30689C>T|||||||rs4820774||-1||||||||||||Ensembl||G|G||||chr22:g.27706896G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.91-80C>T|||||||rs4820774||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27706896G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=59769;gnomADv4_1_AC_joint_XX=30427;gnomADv4_1_AC_joint_XY=29342;gnomADv4_1_AF_grpmax_joint=0.596856;gnomADv4_1_AF_joint=0.39329;gnomADv4_1_AF_joint_XX=0.391606;gnomADv4_1_AF_joint_XY=0.395051;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151972;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12549;gnomADv4_1_nhomalt_joint_XX=6350;gnomADv4_1_nhomalt_joint_XY=6199;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27706972 chr22_27706972_C_T C T 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.008;CADD_Rawscore=-1.32852;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs9613515|608|1||||3||||||||Ensembl||C|C||||chr22:g.27706972C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.91-156G>A|||||||rs9613515||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27706972C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-30765G>A|||||||rs9613515||-1||||||||||||Ensembl||C|C||||chr22:g.27706972C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.91-156G>A|||||||rs9613515||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27706972C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=86090;gnomADv4_1_AC_joint_XX=43774;gnomADv4_1_AC_joint_XY=42316;gnomADv4_1_AF_grpmax_joint=0.776983;gnomADv4_1_AF_joint=0.566516;gnomADv4_1_AF_joint_XX=0.563314;gnomADv4_1_AF_joint_XY=0.569866;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24507;gnomADv4_1_nhomalt_joint_XX=12387;gnomADv4_1_nhomalt_joint_XY=12120;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27707089 chr22_27707089_C_T C T 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.765;CADD_Rawscore=-0.086305;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs1569949|491|1||||3||||||||Ensembl||C|C||||chr22:g.27707089C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.91-273G>A|||||||rs1569949||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27707089C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-30882G>A|||||||rs1569949||-1||||||||||||Ensembl||C|C||||chr22:g.27707089C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.91-273G>A|||||||rs1569949||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27707089C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=28079;gnomADv4_1_AC_joint_XX=14289;gnomADv4_1_AC_joint_XY=13790;gnomADv4_1_AF_grpmax_joint=0.23002;gnomADv4_1_AF_joint=0.184742;gnomADv4_1_AF_joint_XX=0.183848;gnomADv4_1_AF_joint_XY=0.185679;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3027;gnomADv4_1_nhomalt_joint_XX=1567;gnomADv4_1_nhomalt_joint_XY=1460;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27707789 chr22_27707789_A_C A C 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=5.746;CADD_Rawscore=0.527782;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||1/1|ENST00000422833.1:n.74+136A>C|||||||rs59708934||1||||3||||||||Ensembl||A|A||||chr22:g.27707789A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.91-973T>G|||||||rs59708934||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27707789A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-31582T>G|||||||rs59708934||-1||||||||||||Ensembl||A|A||||chr22:g.27707789A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.91-973T>G|||||||rs59708934||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27707789A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=19725;gnomADv4_1_AC_joint_XX=10216;gnomADv4_1_AC_joint_XY=9509;gnomADv4_1_AF_grpmax_joint=0.220099;gnomADv4_1_AF_joint=0.129637;gnomADv4_1_AF_joint_XX=0.131358;gnomADv4_1_AF_joint_XY=0.127837;gnomADv4_1_AN_grpmax_joint=41454;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1585;gnomADv4_1_nhomalt_joint_XX=854;gnomADv4_1_nhomalt_joint_XY=731;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27708053 chr22_27708053_A_G A G 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.354;CADD_Rawscore=-0.279955;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||1/1|ENST00000422833.1:n.74+400A>G|||||||rs6005580||1||||3||||||||Ensembl||A|A||||chr22:g.27708053A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.91-1237T>C|||||||rs6005580||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27708053A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-31846T>C|||||||rs6005580||-1||||||||||||Ensembl||A|A||||chr22:g.27708053A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.91-1237T>C|||||||rs6005580||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27708053A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=42180;gnomADv4_1_AC_joint_XX=21338;gnomADv4_1_AC_joint_XY=20842;gnomADv4_1_AF_grpmax_joint=0.504476;gnomADv4_1_AF_joint=0.277562;gnomADv4_1_AF_joint_XX=0.274521;gnomADv4_1_AF_joint_XY=0.280746;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=151966;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6176;gnomADv4_1_nhomalt_joint_XX=3049;gnomADv4_1_nhomalt_joint_XY=3127;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27708064 chr22_27708064_A_G A G 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.169;CADD_Rawscore=0.022877;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||1/1|ENST00000422833.1:n.74+411A>G|||||||rs6005581||1||||3||||||||Ensembl||A|A||||chr22:g.27708064A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.91-1248T>C|||||||rs6005581||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27708064A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-31857T>C|||||||rs6005581||-1||||||||||||Ensembl||A|A||||chr22:g.27708064A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.91-1248T>C|||||||rs6005581||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27708064A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=42195;gnomADv4_1_AC_joint_XX=21335;gnomADv4_1_AC_joint_XY=20860;gnomADv4_1_AF_grpmax_joint=0.503498;gnomADv4_1_AF_joint=0.277591;gnomADv4_1_AF_joint_XX=0.274553;gnomADv4_1_AF_joint_XY=0.280769;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=152004;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6175;gnomADv4_1_nhomalt_joint_XX=3045;gnomADv4_1_nhomalt_joint_XY=3130;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27708270 chr22_27708270_TA_T TA T 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADDIndel_PHREDscore=0.064;CADDIndel_Rawscore=-0.732206;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||1/1|ENST00000422833.1:n.74+618del|||||||rs138309097||1||||3||||||||Ensembl||A|A||||chr22:g.27708271del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.91-1455del|||||||rs138309097||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27708271del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-32064del|||||||rs138309097||-1||||||||||||Ensembl||A|A||||chr22:g.27708271del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.91-1455del|||||||rs138309097||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27708271del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=18457;gnomADv4_1_AC_joint_XX=9647;gnomADv4_1_AC_joint_XY=8810;gnomADv4_1_AF_grpmax_joint=0.236019;gnomADv4_1_AF_joint=0.145735;gnomADv4_1_AF_joint_XX=0.144659;gnomADv4_1_AF_joint_XY=0.146931;gnomADv4_1_AN_grpmax_joint=35764;gnomADv4_1_AN_joint=126648;gnomADv4_1_AN_joint_XX=66688;gnomADv4_1_AN_joint_XY=59960;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1453;gnomADv4_1_nhomalt_joint_XX=792;gnomADv4_1_nhomalt_joint_XY=661;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27708276 chr22_27708277_AT_A;chr22_27708276_TA_T TA T 35 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=24;CADDIndel_PHREDscore=0.551;CADDIndel_Rawscore=-0.168864;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||1/1|ENST00000422833.1:n.74+624del|||||||rs202082028||1||||3||||||||Ensembl||A|A||||chr22:g.27708277del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.91-1461del|||||||rs202082028||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27708277del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-32070del|||||||rs202082028||-1||||||||||||Ensembl||A|A||||chr22:g.27708277del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.91-1461del|||||||rs202082028||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27708277del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=3935;gnomADv4_1_AC_joint_XX=1786;gnomADv4_1_AC_joint_XY=2149;gnomADv4_1_AF_grpmax_joint=0.289773;gnomADv4_1_AF_joint=0.0412664;gnomADv4_1_AF_joint_XX=0.0353216;gnomADv4_1_AF_joint_XY=0.0479773;gnomADv4_1_AN_grpmax_joint=4048;gnomADv4_1_AN_joint=95356;gnomADv4_1_AN_joint_XX=50564;gnomADv4_1_AN_joint_XY=44792;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=227;gnomADv4_1_nhomalt_joint_XX=94;gnomADv4_1_nhomalt_joint_XY=133;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27708277 chr22_27708277_AT_A;chr22_27708276_TA_T AT A 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=35;CADDIndel_PHREDscore=0.559;CADDIndel_Rawscore=-0.165234;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||1/1|ENST00000422833.1:n.74+639del|||||||rs57878883||1||||3||||||||Ensembl||T|T|||14|chr22:g.27708292del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.91-1462del|||||||rs57878883||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27708292del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-32071del|||||||rs57878883||-1||||||||||||Ensembl||T|T||||chr22:g.27708292del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.91-1462del|||||||rs57878883||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27708292del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=78480;gnomADv4_1_AC_joint_XX=40920;gnomADv4_1_AC_joint_XY=37560;gnomADv4_1_AF_grpmax_joint=0.699175;gnomADv4_1_AF_joint=0.619856;gnomADv4_1_AF_joint_XX=0.623305;gnomADv4_1_AF_joint_XY=0.616142;gnomADv4_1_AN_grpmax_joint=61368;gnomADv4_1_AN_joint=126610;gnomADv4_1_AN_joint_XX=65650;gnomADv4_1_AN_joint_XY=60960;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=22903;gnomADv4_1_nhomalt_joint_XX=12047;gnomADv4_1_nhomalt_joint_XY=10856;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27708292 chr22_27708292_T_TTG T TTG 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.829;CADDIndel_Rawscore=-0.065975;CSQ=TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||1/1|ENST00000422833.1:n.74+639_74+640insTG|||||||rs372451072||1||||3||||||||Ensembl|||||||chr22:g.27708292_27708293insTG|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.91-1477_91-1476insCA|||||||rs372451072||-1||HGNC|HGNC:55992|3||||||||Ensembl|||||||chr22:g.27708292_27708293insTG|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-32086_392-32085insCA|||||||rs372451072||-1||||||||||||Ensembl|||||||chr22:g.27708292_27708293insTG|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.91-1477_91-1476insCA|||||||rs372451072||-1||EntrezGene|HGNC:55992|||||||||RefSeq|||||||chr22:g.27708292_27708293insTG|||||||||||||;TYPE=INDEL;VEP_Allele=TG,TG,TG,TG;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=17620;gnomADv4_1_AC_joint_XX=9220;gnomADv4_1_AC_joint_XY=8400;gnomADv4_1_AF_grpmax_joint=0.221953;gnomADv4_1_AF_joint=0.136538;gnomADv4_1_AF_joint_XX=0.138003;gnomADv4_1_AF_joint_XY=0.134966;gnomADv4_1_AN_grpmax_joint=36296;gnomADv4_1_AN_joint=129048;gnomADv4_1_AN_joint_XX=66810;gnomADv4_1_AN_joint_XY=62238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1260;gnomADv4_1_nhomalt_joint_XX=686;gnomADv4_1_nhomalt_joint_XY=574;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27708736 chr22_27708736_A_T A T 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.524;CADD_Rawscore=0.226295;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||1/1|ENST00000422833.1:n.74+1083A>T|||||||rs5752621||1||||3||||||||Ensembl||A|A||||chr22:g.27708736A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.91-1920T>A|||||||rs5752621||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27708736A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-32529T>A|||||||rs5752621||-1||||||||||||Ensembl||A|A||||chr22:g.27708736A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.91-1920T>A|||||||rs5752621||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27708736A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=5019;gnomADv4_1_AC_joint_XX=2287;gnomADv4_1_AC_joint_XY=2732;gnomADv4_1_AF_grpmax_joint=0.297897;gnomADv4_1_AF_joint=0.033363;gnomADv4_1_AF_joint_XX=0.0296582;gnomADv4_1_AF_joint_XY=0.0372593;gnomADv4_1_AN_grpmax_joint=5136;gnomADv4_1_AN_joint=150436;gnomADv4_1_AN_joint_XX=77112;gnomADv4_1_AN_joint_XY=73324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=362;gnomADv4_1_nhomalt_joint_XX=162;gnomADv4_1_nhomalt_joint_XY=200;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27708756 chr22_27708756_A_T A T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.405;CADD_Rawscore=-0.245762;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||1/1|ENST00000422833.1:n.74+1103A>T|||||||rs9613517||1||||3||||||||Ensembl||A|A||||chr22:g.27708756A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.91-1940T>A|||||||rs9613517||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27708756A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-32549T>A|||||||rs9613517||-1||||||||||||Ensembl||A|A||||chr22:g.27708756A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.91-1940T>A|||||||rs9613517||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27708756A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=55972;gnomADv4_1_AC_joint_XX=28909;gnomADv4_1_AC_joint_XY=27063;gnomADv4_1_AF_grpmax_joint=0.503528;gnomADv4_1_AF_joint=0.379004;gnomADv4_1_AF_joint_XX=0.381275;gnomADv4_1_AF_joint_XY=0.376607;gnomADv4_1_AN_grpmax_joint=66902;gnomADv4_1_AN_joint=147682;gnomADv4_1_AN_joint_XX=75822;gnomADv4_1_AN_joint_XY=71860;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=12056;gnomADv4_1_nhomalt_joint_XX=6317;gnomADv4_1_nhomalt_joint_XY=5739;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27708979 chr22_27708979_G_A G A 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADD_PHREDscore=9.825;CADD_Rawscore=0.955952;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||1/1|ENST00000422833.1:n.75-912G>A|||||||rs6005583||1||||3||||||||Ensembl||G|G||||chr22:g.27708979G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.91-2163C>T|||||||rs6005583||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27708979G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-32772C>T|||||||rs6005583||-1||||||||||||Ensembl||G|G||||chr22:g.27708979G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.91-2163C>T|||||||rs6005583||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27708979G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=51046;gnomADv4_1_AC_joint_XX=26247;gnomADv4_1_AC_joint_XY=24799;gnomADv4_1_AF_grpmax_joint=0.450464;gnomADv4_1_AF_joint=0.33586;gnomADv4_1_AF_joint_XX=0.337791;gnomADv4_1_AF_joint_XY=0.33384;gnomADv4_1_AN_grpmax_joint=67930;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9920;gnomADv4_1_nhomalt_joint_XX=5152;gnomADv4_1_nhomalt_joint_XY=4768;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27709853 chr22_27709853_A_G A G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.285;CADD_Rawscore=0.047494;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||1/1|ENST00000422833.1:n.75-38A>G|||||||rs11090507||1||||3||||||||Ensembl||A|A||||chr22:g.27709853A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.91-3037T>C|||||||rs11090507||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27709853A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-33646T>C|||||||rs11090507||-1||||||||||||Ensembl||A|A||||chr22:g.27709853A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.91-3037T>C|||||||rs11090507||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27709853A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=106085;gnomADv4_1_AC_joint_XX=54612;gnomADv4_1_AC_joint_XY=51473;gnomADv4_1_AF_grpmax_joint=0.843537;gnomADv4_1_AF_joint=0.697671;gnomADv4_1_AF_joint_XX=0.702477;gnomADv4_1_AF_joint_XY=0.692642;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=37417;gnomADv4_1_nhomalt_joint_XX=19369;gnomADv4_1_nhomalt_joint_XY=18048;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27710210 chr22_27710210_A_T A T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.736;CADD_Rawscore=-0.096297;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs9625305|279|1||||3||||||||Ensembl||A|A||||chr22:g.27710210A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.91-3394T>A|||||||rs9625305||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27710210A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.392-34003T>A|||||||rs9625305||-1||||||||||||Ensembl||A|A||||chr22:g.27710210A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.91-3394T>A|||||||rs9625305||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27710210A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=95206;gnomADv4_1_AC_joint_XX=48811;gnomADv4_1_AC_joint_XY=46395;gnomADv4_1_AF_grpmax_joint=0.785714;gnomADv4_1_AF_joint=0.626364;gnomADv4_1_AF_joint_XX=0.628214;gnomADv4_1_AF_joint_XY=0.624428;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=30098;gnomADv4_1_nhomalt_joint_XX=15438;gnomADv4_1_nhomalt_joint_XY=14660;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27710404 chr22_27710404_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.048;CADD_Rawscore=-0.005764;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs5762326|473|1||||3||||||||Ensembl||A|A||||chr22:g.27710404A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.91-3588T>C|||||||rs5762326||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27710404A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+33967T>C|||||||rs5762326||-1||||||||||||Ensembl||A|A||||chr22:g.27710404A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.91-3588T>C|||||||rs5762326||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27710404A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=61220;gnomADv4_1_AC_joint_XX=30930;gnomADv4_1_AC_joint_XY=30290;gnomADv4_1_AF_grpmax_joint=0.666797;gnomADv4_1_AF_joint=0.403613;gnomADv4_1_AF_joint_XX=0.398552;gnomADv4_1_AF_joint_XY=0.408915;gnomADv4_1_AN_grpmax_joint=5120;gnomADv4_1_AN_joint=151680;gnomADv4_1_AN_joint_XX=77606;gnomADv4_1_AN_joint_XY=74074;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12809;gnomADv4_1_nhomalt_joint_XX=6385;gnomADv4_1_nhomalt_joint_XY=6424;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27711078 chr22_27711078_C_G C G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.313;CADD_Rawscore=-0.311257;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs5762327|1147|1||||3||||||||Ensembl||C|C||||chr22:g.27711078C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+3803G>C|||||||rs5762327||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27711078C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+33293G>C|||||||rs5762327||-1||||||||||||Ensembl||C|C||||chr22:g.27711078C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+3803G>C|||||||rs5762327||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27711078C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=91274;gnomADv4_1_AC_joint_XX=47069;gnomADv4_1_AC_joint_XY=44205;gnomADv4_1_AF_grpmax_joint=0.760274;gnomADv4_1_AF_joint=0.600195;gnomADv4_1_AF_joint_XX=0.605467;gnomADv4_1_AF_joint_XY=0.594681;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=27814;gnomADv4_1_nhomalt_joint_XX=14456;gnomADv4_1_nhomalt_joint_XY=13358;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27711286 chr22_27711286_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=6.883;CADD_Rawscore=0.645399;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs9625306|1355|1||||3||||||||Ensembl||C|C||||chr22:g.27711286C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+3595G>A|||||||rs9625306||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27711286C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+33085G>A|||||||rs9625306||-1||||||||||||Ensembl||C|C||||chr22:g.27711286C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+3595G>A|||||||rs9625306||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27711286C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=31326;gnomADv4_1_AC_joint_XX=15895;gnomADv4_1_AC_joint_XY=15431;gnomADv4_1_AF_grpmax_joint=0.25826;gnomADv4_1_AF_joint=0.205997;gnomADv4_1_AF_joint_XX=0.204495;gnomADv4_1_AF_joint_XY=0.207568;gnomADv4_1_AN_grpmax_joint=67978;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3652;gnomADv4_1_nhomalt_joint_XX=1836;gnomADv4_1_nhomalt_joint_XY=1816;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27712073 chr22_27712073_C_G C G 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=4.464;CADD_Rawscore=0.406669;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs7289772|4407|1||||3||||||||Ensembl||C|C||||chr22:g.27712073C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs7289772|2142|1||||3||||||||Ensembl||C|C||||chr22:g.27712073C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+2808G>C|||||||rs7289772||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27712073C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+32298G>C|||||||rs7289772||-1||||||||||||Ensembl||C|C||||chr22:g.27712073C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+2808G>C|||||||rs7289772||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27712073C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=14871;gnomADv4_1_AC_joint_XX=7903;gnomADv4_1_AC_joint_XY=6968;gnomADv4_1_AF_grpmax_joint=0.220537;gnomADv4_1_AF_joint=0.0978587;gnomADv4_1_AF_joint_XX=0.101701;gnomADv4_1_AF_joint_XY=0.0938375;gnomADv4_1_AN_grpmax_joint=41476;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1199;gnomADv4_1_nhomalt_joint_XX=667;gnomADv4_1_nhomalt_joint_XY=532;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27712108 chr22_27712108_AT_A AT A 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.429;CADDIndel_Rawscore=-0.231632;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs112734013|4371|1||||3||||||||Ensembl||T|T||||chr22:g.27712116del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs112734013|2178|1||||3||||||||Ensembl||T|T||||chr22:g.27712116del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+2772del|||||||rs112734013||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27712116del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+32262del|||||||rs112734013||-1||||||||||||Ensembl||T|T||||chr22:g.27712116del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+2772del|||||||rs112734013||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27712116del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=121187;gnomADv4_1_AC_joint_XX=62008;gnomADv4_1_AC_joint_XY=59179;gnomADv4_1_AF_grpmax_joint=0.895857;gnomADv4_1_AF_joint=0.798491;gnomADv4_1_AF_joint_XX=0.798681;gnomADv4_1_AF_joint_XY=0.798292;gnomADv4_1_AN_grpmax_joint=67974;gnomADv4_1_AN_joint=151770;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=74132;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=49759;gnomADv4_1_nhomalt_joint_XX=25430;gnomADv4_1_nhomalt_joint_XY=24329;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27712113 chr22_27712113_T_TTTG T TTTG 26 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=26;CADDIndel_PHREDscore=0.937;CADDIndel_Rawscore=-0.03462;CSQ=TTG|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs1305232788|4366|1||||3||||||||Ensembl|||||||chr22:g.27712115_27712116insGTT|||||||||||||,TTG|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs1305232788|2182|1||||3||||||||Ensembl|||||||chr22:g.27712115_27712116insGTT|||||||||||||,TTG|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+2767_90+2768insCAA|||||||rs1305232788||-1||HGNC|HGNC:55992|3||||||||Ensembl|||||||chr22:g.27712115_27712116insGTT|||||||||||||,TTG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+32257_391+32258insCAA|||||||rs1305232788||-1||||||||||||Ensembl|||||||chr22:g.27712115_27712116insGTT|||||||||||||,TTG|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+2767_90+2768insCAA|||||||rs1305232788||-1||EntrezGene|HGNC:55992|||||||||RefSeq|||||||chr22:g.27712115_27712116insGTT|||||||||||||;TYPE=INDEL;VEP_Allele=TTG,TTG,TTG,TTG,TTG;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=28;gnomADv4_1_AC_joint_XX=10;gnomADv4_1_AC_joint_XY=18;gnomADv4_1_AF_grpmax_joint=0.00157115;gnomADv4_1_AF_joint=0.000204771;gnomADv4_1_AF_joint_XX=0.000141876;gnomADv4_1_AF_joint_XY=0.000271682;gnomADv4_1_AN_grpmax_joint=13366;gnomADv4_1_AN_joint=136738;gnomADv4_1_AN_joint_XX=70484;gnomADv4_1_AN_joint_XY=66254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27712119 chr22_27712119_T_TTG T TTG 25 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=25;CADDIndel_PHREDscore=1.0;CADDIndel_Rawscore=-0.017838;CSQ=TG|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA|||||||||||4360|1||||3||||||||Ensembl|||||||chr22:g.27712121_27712122dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA|||||||||||2188|1||||3||||||||Ensembl|||||||chr22:g.27712121_27712122dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+2760_90+2761dup|||||||||-1||HGNC|HGNC:55992|3||||||||Ensembl|||||||chr22:g.27712121_27712122dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+32250_391+32251dup|||||||||-1||||||||||||Ensembl|||||||chr22:g.27712121_27712122dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+2760_90+2761dup|||||||||-1||EntrezGene|HGNC:55992|||||||||RefSeq|||||||chr22:g.27712121_27712122dup|||||||||||||;TYPE=INDEL;VEP_Allele=TG,TG,TG,TG,TG;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=0;gnomADv4_1_AC_joint_XX=0;gnomADv4_1_AC_joint_XY=0;gnomADv4_1_AF_joint=0.0;gnomADv4_1_AF_joint_XX=0.0;gnomADv4_1_AF_joint_XY=0.0;gnomADv4_1_AN_joint=117834;gnomADv4_1_AN_joint_XX=60422;gnomADv4_1_AN_joint_XY=57412;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27712125 chr22_27712125_G_GTGTT;chr22_27712125_G_GTT G GTGTT 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=1.082;CADDIndel_Rawscore=0.002548;CSQ=TGTT|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs35062009|4354|1||||3||||||||Ensembl|||||||chr22:g.27712146_27712149dup|||||||||||||,TGTT|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs35062009|2194|1||||3||||||||Ensembl|||||||chr22:g.27712146_27712149dup|||||||||||||,TGTT|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+2752_90+2755dup|||||||rs35062009||-1||HGNC|HGNC:55992|3||||||||Ensembl|||||||chr22:g.27712146_27712149dup|||||||||||||,TGTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+32242_391+32245dup|||||||rs35062009||-1||||||||||||Ensembl|||||||chr22:g.27712146_27712149dup|||||||||||||,TGTT|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+2752_90+2755dup|||||||rs35062009||-1||EntrezGene|HGNC:55992|||||||||RefSeq|||||||chr22:g.27712146_27712149dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGTT,TGTT,TGTT,TGTT,TGTT;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=5135;gnomADv4_1_AC_joint_XX=2638;gnomADv4_1_AC_joint_XY=2497;gnomADv4_1_AF_grpmax_joint=0.0753302;gnomADv4_1_AF_joint=0.0339949;gnomADv4_1_AF_joint_XX=0.0341047;gnomADv4_1_AF_joint_XY=0.0338797;gnomADv4_1_AN_grpmax_joint=41192;gnomADv4_1_AN_joint=151052;gnomADv4_1_AN_joint_XX=77350;gnomADv4_1_AN_joint_XY=73702;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=130;gnomADv4_1_nhomalt_joint_XX=59;gnomADv4_1_nhomalt_joint_XY=71;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27712125 chr22_27712125_G_GTGTT;chr22_27712125_G_GTT G GTT 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=26;CADDIndel_PHREDscore=1.12;CADDIndel_Rawscore=0.011539;CSQ=TT|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs1555878721|4354|1||||3||||||||Ensembl|||||||chr22:g.27712126_27712127insTT|||||||||||||,TT|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs1555878721|2194|1||||3||||||||Ensembl|||||||chr22:g.27712126_27712127insTT|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+2755_90+2756insAA|||||||rs1555878721||-1||HGNC|HGNC:55992|3||||||||Ensembl|||||||chr22:g.27712126_27712127insTT|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+32245_391+32246insAA|||||||rs1555878721||-1||||||||||||Ensembl|||||||chr22:g.27712126_27712127insTT|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+2755_90+2756insAA|||||||rs1555878721||-1||EntrezGene|HGNC:55992|||||||||RefSeq|||||||chr22:g.27712126_27712127insTT|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=1321;gnomADv4_1_AC_joint_XX=639;gnomADv4_1_AC_joint_XY=682;gnomADv4_1_AF_grpmax_joint=0.0408163;gnomADv4_1_AF_joint=0.00874464;gnomADv4_1_AF_joint_XX=0.00826094;gnomADv4_1_AF_joint_XY=0.00925222;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151064;gnomADv4_1_AN_joint_XX=77352;gnomADv4_1_AN_joint_XY=73712;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=14;gnomADv4_1_nhomalt_joint_XX=5;gnomADv4_1_nhomalt_joint_XY=9;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27712382 chr22_27712382_C_T C T 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=3.048;CADD_Rawscore=0.27903;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs9625307|4098|1||||3||||||||Ensembl||C|C||||chr22:g.27712382C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs9625307|2451|1||||3||||||||Ensembl||C|C||||chr22:g.27712382C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+2499G>A|||||||rs9625307||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27712382C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+31989G>A|||||||rs9625307||-1||||||||||||Ensembl||C|C||||chr22:g.27712382C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+2499G>A|||||||rs9625307||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27712382C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=92120;gnomADv4_1_AC_joint_XX=47190;gnomADv4_1_AC_joint_XY=44930;gnomADv4_1_AF_grpmax_joint=0.791096;gnomADv4_1_AF_joint=0.606116;gnomADv4_1_AF_joint_XX=0.607195;gnomADv4_1_AF_joint_XY=0.604987;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151984;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=28448;gnomADv4_1_nhomalt_joint_XX=14569;gnomADv4_1_nhomalt_joint_XY=13879;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27712412 chr22_27712412_C_A C A 61 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=61;CADD_PHREDscore=1.07;CADD_Rawscore=-0.000165;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs12167526|4068|1||||3||||||||Ensembl||C|C||||chr22:g.27712412C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs12167526|2481|1||||3||||||||Ensembl||C|C||||chr22:g.27712412C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+2469G>T|||||||rs12167526||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27712412C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+31959G>T|||||||rs12167526||-1||||||||||||Ensembl||C|C||||chr22:g.27712412C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+2469G>T|||||||rs12167526||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27712412C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=142089;gnomADv4_1_AC_joint_XX=72589;gnomADv4_1_AC_joint_XY=69500;gnomADv4_1_AF_grpmax_joint=0.998353;gnomADv4_1_AF_joint=0.933654;gnomADv4_1_AF_joint_XX=0.933236;gnomADv4_1_AF_joint_XY=0.93409;gnomADv4_1_AN_grpmax_joint=68020;gnomADv4_1_AN_joint=152186;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=66873;gnomADv4_1_nhomalt_joint_XX=34138;gnomADv4_1_nhomalt_joint_XY=32735;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27712545 chr22_27712545_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=2.455;CADD_Rawscore=0.218725;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs5762328|3935|1||||3||||||||Ensembl||G|G||||chr22:g.27712545G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs5762328|2614|1||||3||||||||Ensembl||G|G||||chr22:g.27712545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+2336C>T|||||||rs5762328||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27712545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+31826C>T|||||||rs5762328||-1||||||||||||Ensembl||G|G||||chr22:g.27712545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+2336C>T|||||||rs5762328||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27712545G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=4835;gnomADv4_1_AC_joint_XX=2195;gnomADv4_1_AC_joint_XY=2640;gnomADv4_1_AF_grpmax_joint=0.327139;gnomADv4_1_AF_joint=0.0317591;gnomADv4_1_AF_joint_XX=0.0282119;gnomADv4_1_AF_joint_XY=0.0354667;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152240;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=408;gnomADv4_1_nhomalt_joint_XX=182;gnomADv4_1_nhomalt_joint_XY=226;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27712729 chr22_27712729_C_T C T 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=5.494;CADD_Rawscore=0.502968;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs7285142|3751|1||||3||||||||Ensembl||C|C||||chr22:g.27712729C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs7285142|2798|1||||3||||||||Ensembl||C|C||||chr22:g.27712729C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+2152G>A|||||||rs7285142||-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27712729C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+31642G>A|||||||rs7285142||-1||||||||||||Ensembl||C|C||||chr22:g.27712729C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+2152G>A|||||||rs7285142||-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27712729C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=14608;gnomADv4_1_AC_joint_XX=7769;gnomADv4_1_AC_joint_XY=6839;gnomADv4_1_AF_grpmax_joint=0.225052;gnomADv4_1_AF_joint=0.098523;gnomADv4_1_AF_joint_XX=0.101937;gnomADv4_1_AF_joint_XY=0.0949123;gnomADv4_1_AN_grpmax_joint=39702;gnomADv4_1_AN_joint=148270;gnomADv4_1_AN_joint_XX=76214;gnomADv4_1_AN_joint_XY=72056;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1200;gnomADv4_1_nhomalt_joint_XX=657;gnomADv4_1_nhomalt_joint_XY=543;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27712740 chr22_27712742_TTGTGTGTGTGTG_T;chr22_27712740_CTTTGTGTGTG_C;chr22_27712742_TTGTGTGTGTGTGTG_T;chr22_27712742_TTGTG_T CTTTGTGTGTG C 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=23;CADDIndel_PHREDscore=0.71;CADDIndel_Rawscore=-0.105455;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs1287815338|3730|1||||3||||||||Ensembl||TTTGTGTGTG|TTTGTGTGTG||||chr22:g.27712742_27712751del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs1287815338|2810|1||||3||||||||Ensembl||TTTGTGTGTG|TTTGTGTGTG||||chr22:g.27712742_27712751del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+2131_90+2140del|||||||rs1287815338||-1||HGNC|HGNC:55992|3||||||||Ensembl||TTTGTGTGTG|TTTGTGTGTG||||chr22:g.27712742_27712751del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+31621_391+31630del|||||||rs1287815338||-1||||||||||||Ensembl||TTTGTGTGTG|TTTGTGTGTG||||chr22:g.27712742_27712751del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+2131_90+2140del|||||||rs1287815338||-1||EntrezGene|HGNC:55992|||||||||RefSeq||TTTGTGTGTG|TTTGTGTGTG||||chr22:g.27712742_27712751del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=6808;gnomADv4_1_AC_joint_XX=3337;gnomADv4_1_AC_joint_XY=3471;gnomADv4_1_AF_grpmax_joint=0.298203;gnomADv4_1_AF_joint=0.0535119;gnomADv4_1_AF_joint_XX=0.0503957;gnomADv4_1_AF_joint_XY=0.0568942;gnomADv4_1_AN_grpmax_joint=4564;gnomADv4_1_AN_joint=127224;gnomADv4_1_AN_joint_XX=66216;gnomADv4_1_AN_joint_XY=61008;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=374;gnomADv4_1_nhomalt_joint_XX=170;gnomADv4_1_nhomalt_joint_XY=204;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27712742 chr22_27712742_TTGTGTGTGTGTG_T;chr22_27712740_CTTTGTGTGTG_C;chr22_27712742_TTGTGTGTGTGTGTG_T;chr22_27712742_TTGTG_T TTGTGTGTGTGTG T 29 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=29;CADDIndel_PHREDscore=0.734;CADDIndel_Rawscore=-0.09688;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs759393496|3726|1||||3||||||||Ensembl||TGTGTGTGTGTG|TGTGTGTGTGTG||||chr22:g.27712785_27712796del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs759393496|2812|1||||3||||||||Ensembl||TGTGTGTGTGTG|TGTGTGTGTGTG||||chr22:g.27712785_27712796del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+2127_90+2138del|||||||rs759393496||-1||HGNC|HGNC:55992|3||||||||Ensembl||TGTGTGTGTGTG|TGTGTGTGTGTG||||chr22:g.27712785_27712796del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+31617_391+31628del|||||||rs759393496||-1||||||||||||Ensembl||TGTGTGTGTGTG|TGTGTGTGTGTG||||chr22:g.27712785_27712796del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+2127_90+2138del|||||||rs759393496||-1||EntrezGene|HGNC:55992|||||||||RefSeq||TGTGTGTGTGTG|TGTGTGTGTGTG||||chr22:g.27712785_27712796del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=29827;gnomADv4_1_AC_joint_XX=15196;gnomADv4_1_AC_joint_XY=14631;gnomADv4_1_AF_grpmax_joint=0.305759;gnomADv4_1_AF_joint=0.22253;gnomADv4_1_AF_joint_XX=0.218937;gnomADv4_1_AF_joint_XY=0.226388;gnomADv4_1_AN_grpmax_joint=3542;gnomADv4_1_AN_joint=134036;gnomADv4_1_AN_joint_XX=69408;gnomADv4_1_AN_joint_XY=64628;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3194;gnomADv4_1_nhomalt_joint_XX=1595;gnomADv4_1_nhomalt_joint_XY=1599;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27712742 chr22_27712742_TTGTGTGTGTGTG_T;chr22_27712740_CTTTGTGTGTG_C;chr22_27712742_TTGTGTGTGTGTGTG_T;chr22_27712742_TTGTG_T TTGTGTGTGTGTGTG T 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=29;CADDIndel_PHREDscore=0.717;CADDIndel_Rawscore=-0.10278;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs759393496|3724|1||||3||||||||Ensembl||TGTGTGTGTGTGTG|TGTGTGTGTGTGTG||||chr22:g.27712783_27712796del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs759393496|2812|1||||3||||||||Ensembl||TGTGTGTGTGTGTG|TGTGTGTGTGTGTG||||chr22:g.27712783_27712796del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+2125_90+2138del|||||||rs759393496||-1||HGNC|HGNC:55992|3||||||||Ensembl||TGTGTGTGTGTGTG|TGTGTGTGTGTGTG||||chr22:g.27712783_27712796del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+31615_391+31628del|||||||rs759393496||-1||||||||||||Ensembl||TGTGTGTGTGTGTG|TGTGTGTGTGTGTG||||chr22:g.27712783_27712796del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+2125_90+2138del|||||||rs759393496||-1||EntrezGene|HGNC:55992|||||||||RefSeq||TGTGTGTGTGTGTG|TGTGTGTGTGTGTG||||chr22:g.27712783_27712796del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=13906;gnomADv4_1_AC_joint_XX=7380;gnomADv4_1_AC_joint_XY=6526;gnomADv4_1_AF_grpmax_joint=0.165049;gnomADv4_1_AF_joint=0.103744;gnomADv4_1_AF_joint_XX=0.106331;gnomADv4_1_AF_joint_XY=0.100965;gnomADv4_1_AN_grpmax_joint=36462;gnomADv4_1_AN_joint=134042;gnomADv4_1_AN_joint_XX=69406;gnomADv4_1_AN_joint_XY=64636;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=881;gnomADv4_1_nhomalt_joint_XX=469;gnomADv4_1_nhomalt_joint_XY=412;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27712742 chr22_27712742_TTGTGTGTGTGTG_T;chr22_27712740_CTTTGTGTGTG_C;chr22_27712742_TTGTGTGTGTGTGTG_T;chr22_27712742_TTGTG_T TTGTG T 29 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=22;CADDIndel_PHREDscore=0.594;CADDIndel_Rawscore=-0.14997;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs759393496|3734|1||||3||||||||Ensembl||TGTG|TGTG||||chr22:g.27712793_27712796del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs759393496|2812|1||||3||||||||Ensembl||TGTG|TGTG||||chr22:g.27712793_27712796del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+2135_90+2138del|||||||rs759393496||-1||HGNC|HGNC:55992|3||||||||Ensembl||TGTG|TGTG||||chr22:g.27712793_27712796del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+31625_391+31628del|||||||rs759393496||-1||||||||||||Ensembl||TGTG|TGTG||||chr22:g.27712793_27712796del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+2135_90+2138del|||||||rs759393496||-1||EntrezGene|HGNC:55992|||||||||RefSeq||TGTG|TGTG||||chr22:g.27712793_27712796del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=22321;gnomADv4_1_AC_joint_XX=11916;gnomADv4_1_AC_joint_XY=10405;gnomADv4_1_AF_grpmax_joint=0.233333;gnomADv4_1_AF_joint=0.169406;gnomADv4_1_AF_joint_XX=0.174711;gnomADv4_1_AF_joint_XY=0.163714;gnomADv4_1_AN_grpmax_joint=270;gnomADv4_1_AN_joint=131760;gnomADv4_1_AN_joint_XX=68204;gnomADv4_1_AN_joint_XY=63556;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1937;gnomADv4_1_nhomalt_joint_XX=1075;gnomADv4_1_nhomalt_joint_XY=862;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27712770 chr22_27712770_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.826;CADD_Rawscore=0.139827;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs143259382|3710|1||||3||||||||Ensembl||G|G||||chr22:g.27712770G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs143259382|2839|1||||3||||||||Ensembl||G|G||||chr22:g.27712770G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+2111C>T|||||||rs143259382||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27712770G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+31601C>T|||||||rs143259382||-1||||||||||||Ensembl||G|G||||chr22:g.27712770G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+2111C>T|||||||rs143259382||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27712770G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=27290;gnomADv4_1_AC_joint_XX=13849;gnomADv4_1_AC_joint_XY=13441;gnomADv4_1_AF_grpmax_joint=0.226003;gnomADv4_1_AF_joint=0.181693;gnomADv4_1_AF_joint_XX=0.179965;gnomADv4_1_AF_joint_XY=0.18351;gnomADv4_1_AN_grpmax_joint=67424;gnomADv4_1_AN_joint=150198;gnomADv4_1_AN_joint_XX=76954;gnomADv4_1_AN_joint_XY=73244;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2824;gnomADv4_1_nhomalt_joint_XX=1404;gnomADv4_1_nhomalt_joint_XY=1420;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27712966 chr22_27712966_T_A T A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.06;CADD_Rawscore=-0.750459;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs9620724|3514|1||||3||||||||Ensembl||T|T||||chr22:g.27712966T>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs9620724|3035|1||||3||||||||Ensembl||T|T||||chr22:g.27712966T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+1915A>T|||||||rs9620724||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27712966T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+31405A>T|||||||rs9620724||-1||||||||||||Ensembl||T|T||||chr22:g.27712966T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+1915A>T|||||||rs9620724||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27712966T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=141525;gnomADv4_1_AC_joint_XX=72277;gnomADv4_1_AC_joint_XY=69248;gnomADv4_1_AF_grpmax_joint=0.99831;gnomADv4_1_AF_joint=0.929813;gnomADv4_1_AF_joint_XX=0.929273;gnomADv4_1_AF_joint_XY=0.930378;gnomADv4_1_AN_grpmax_joint=68036;gnomADv4_1_AN_joint=152208;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=66426;gnomADv4_1_nhomalt_joint_XX=33893;gnomADv4_1_nhomalt_joint_XY=32533;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27713284 chr22_27713284_A_G A G 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.714;CADD_Rawscore=0.123191;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs8137285|3196|1||||3||||||||Ensembl||A|A||||chr22:g.27713284A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs8137285|3353|1||||3||||||||Ensembl||A|A||||chr22:g.27713284A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+1597T>C|||||||rs8137285||-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27713284A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+31087T>C|||||||rs8137285||-1||||||||||||Ensembl||A|A||||chr22:g.27713284A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+1597T>C|||||||rs8137285||-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27713284A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,125177369;VEP_SYMBOL=.,.,CPMER,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=39130;gnomADv4_1_AC_joint_XX=20294;gnomADv4_1_AC_joint_XY=18836;gnomADv4_1_AF_grpmax_joint=0.357143;gnomADv4_1_AF_joint=0.25716;gnomADv4_1_AF_joint_XX=0.260929;gnomADv4_1_AF_joint_XY=0.25322;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5903;gnomADv4_1_nhomalt_joint_XX=3104;gnomADv4_1_nhomalt_joint_XY=2799;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27713676 chr22_27713676_G_A G A 35 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.013;CADD_Rawscore=-0.014402;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs6005585|2804|1||||3||||||||Ensembl||G|G||||chr22:g.27713676G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs6005585|3745|1||||3||||||||Ensembl||G|G||||chr22:g.27713676G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+1205C>T|||||||rs6005585||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27713676G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+30695C>T|||||||rs6005585||-1||||||||||||Ensembl||G|G||||chr22:g.27713676G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs6005585|4857|1||||||||||||Ensembl||G|G||||chr22:g.27713676G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+1205C>T|||||||rs6005585||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27713676G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,ENST00000733448,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,ENSG00000295876,125177369;VEP_SYMBOL=.,.,CPMER,.,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=50328;gnomADv4_1_AC_joint_XX=25500;gnomADv4_1_AC_joint_XY=24828;gnomADv4_1_AF_grpmax_joint=0.617385;gnomADv4_1_AF_joint=0.331053;gnomADv4_1_AF_joint_XX=0.328067;gnomADv4_1_AF_joint_XY=0.334177;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152024;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8643;gnomADv4_1_nhomalt_joint_XX=4302;gnomADv4_1_nhomalt_joint_XY=4341;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27714323 chr22_27714323_T_C T C 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.664;CADD_Rawscore=-0.122238;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs9613519|2157|1||||3||||||||Ensembl||T|T||||chr22:g.27714323T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs9613519|4392|1||||3||||||||Ensembl||T|T||||chr22:g.27714323T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+558A>G|||||||rs9613519||-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27714323T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+30048A>G|||||||rs9613519||-1||||||||||||Ensembl||T|T||||chr22:g.27714323T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs9613519|4210|1||||||||||||Ensembl||T|T||||chr22:g.27714323T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+558A>G|||||||rs9613519||-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27714323T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,ENST00000733448,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,ENSG00000295876,125177369;VEP_SYMBOL=.,.,CPMER,.,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=41817;gnomADv4_1_AC_joint_XX=21685;gnomADv4_1_AC_joint_XY=20132;gnomADv4_1_AF_grpmax_joint=0.404762;gnomADv4_1_AF_joint=0.274931;gnomADv4_1_AF_joint_XX=0.278957;gnomADv4_1_AF_joint_XY=0.270722;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6469;gnomADv4_1_nhomalt_joint_XX=3395;gnomADv4_1_nhomalt_joint_XY=3074;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27714488 chr22_27714488_G_C G C 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.473;CADD_Rawscore=-0.207151;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs2344405|1992|1||||3||||||||Ensembl||G|G||||chr22:g.27714488G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000231495|Transcript|ENST00000422833|lncRNA||||||||||rs2344405|4557|1||||3||||||||Ensembl||G|G||||chr22:g.27714488G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||1/4|ENST00000440255.1:n.90+393C>G|||||||rs2344405||-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27714488G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+29883C>G|||||||rs2344405||-1||||||||||||Ensembl||G|G||||chr22:g.27714488G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs2344405|4045|1||||||||||||Ensembl||G|G||||chr22:g.27714488G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||1/4|NR_186699.1:n.90+393C>G|||||||rs2344405||-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27714488G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000417957,ENST00000422833,ENST00000440255,ENST00000733137,ENST00000733448,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000231495,ENSG00000227838,ENSG00000295854,ENSG00000295876,125177369;VEP_SYMBOL=.,.,CPMER,.,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=20188;gnomADv4_1_AC_joint_XX=10299;gnomADv4_1_AC_joint_XY=9889;gnomADv4_1_AF_grpmax_joint=0.180008;gnomADv4_1_AF_joint=0.13268;gnomADv4_1_AF_joint_XX=0.132415;gnomADv4_1_AF_joint_XY=0.132956;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1646;gnomADv4_1_nhomalt_joint_XX=852;gnomADv4_1_nhomalt_joint_XY=794;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27714976 chr22_27714976_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.4;CADD_Rawscore=-0.249082;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs9625309|1504|1||||3||||||||Ensembl||G|G||||chr22:g.27714976G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs9625309|6|-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27714976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+29395C>T|||||||rs9625309||-1||||||||||||Ensembl||G|G||||chr22:g.27714976G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs9625309|3557|1||||||||||||Ensembl||G|G||||chr22:g.27714976G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs9625309|4516|-1||||||||||||Ensembl||G|G||||chr22:g.27714976G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs9625309|6|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27714976G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000417957,ENST00000440255,ENST00000733137,ENST00000733448,ENST00000733548,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000227838,ENSG00000295854,ENSG00000295876,ENSG00000295890,125177369;VEP_SYMBOL=.,CPMER,.,.,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=31342;gnomADv4_1_AC_joint_XX=15899;gnomADv4_1_AC_joint_XY=15443;gnomADv4_1_AF_grpmax_joint=0.257942;gnomADv4_1_AF_joint=0.206002;gnomADv4_1_AF_joint_XX=0.204436;gnomADv4_1_AF_joint_XY=0.20764;gnomADv4_1_AN_grpmax_joint=67992;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3656;gnomADv4_1_nhomalt_joint_XX=1838;gnomADv4_1_nhomalt_joint_XY=1818;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27715211 chr22_27715211_A_C A C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=15.61;CADD_Rawscore=1.76157;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs5997294|1269|1||||3||||||||Ensembl||A|A||||chr22:g.27715211A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs5997294|241|-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27715211A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+29160T>G|||||||rs5997294||-1||||||||||||Ensembl||A|A||||chr22:g.27715211A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs5997294|3322|1||||||||||||Ensembl||A|A||||chr22:g.27715211A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs5997294|4281|-1||||||||||||Ensembl||A|A||||chr22:g.27715211A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs5997294|241|-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27715211A>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8S22W|enhancer||||||||||rs5997294|||||||||||||||||||||chr22:g.27715211A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C;VEP_Feature=ENST00000417957,ENST00000440255,ENST00000733137,ENST00000733448,ENST00000733548,NR_186699.1,ENSR22_8S22W;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226169,ENSG00000227838,ENSG00000295854,ENSG00000295876,ENSG00000295890,125177369,.;VEP_SYMBOL=.,CPMER,.,.,.,CPMER,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=138549;gnomADv4_1_AC_joint_XX=70728;gnomADv4_1_AC_joint_XY=67821;gnomADv4_1_AF_grpmax_joint=0.997898;gnomADv4_1_AF_joint=0.910393;gnomADv4_1_AF_joint_XX=0.90917;gnomADv4_1_AF_joint_XY=0.911671;gnomADv4_1_AN_grpmax_joint=68032;gnomADv4_1_AN_joint=152186;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=64139;gnomADv4_1_nhomalt_joint_XX=32692;gnomADv4_1_nhomalt_joint_XY=31447;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27715244 chr22_27715244_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=18.69;CADD_Rawscore=2.42998;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs5997295|1236|1||||3||||||||Ensembl||A|A||||chr22:g.27715244A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs5997295|274|-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27715244A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+29127T>C|||||||rs5997295||-1||||||||||||Ensembl||A|A||||chr22:g.27715244A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs5997295|3289|1||||||||||||Ensembl||A|A||||chr22:g.27715244A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs5997295|4248|-1||||||||||||Ensembl||A|A||||chr22:g.27715244A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs5997295|274|-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27715244A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8S22W|enhancer||||||||||rs5997295|||||||||||||||||||||chr22:g.27715244A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000417957,ENST00000440255,ENST00000733137,ENST00000733448,ENST00000733548,NR_186699.1,ENSR22_8S22W;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226169,ENSG00000227838,ENSG00000295854,ENSG00000295876,ENSG00000295890,125177369,.;VEP_SYMBOL=.,CPMER,.,.,.,CPMER,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=141453;gnomADv4_1_AC_joint_XX=72282;gnomADv4_1_AC_joint_XY=69171;gnomADv4_1_AF_grpmax_joint=0.998324;gnomADv4_1_AF_joint=0.929743;gnomADv4_1_AF_joint_XX=0.929313;gnomADv4_1_AF_joint_XY=0.930193;gnomADv4_1_AN_grpmax_joint=68026;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=66390;gnomADv4_1_nhomalt_joint_XX=33900;gnomADv4_1_nhomalt_joint_XY=32490;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27715589 chr22_27715589_G_A G A 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=35;CADD_PHREDscore=6.466;CADD_Rawscore=0.601145;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs1072461|891|1||||3||||||||Ensembl||G|G||||chr22:g.27715589G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs1072461|619|-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27715589G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+28782C>T|||||||rs1072461||-1||||||||||||Ensembl||G|G||||chr22:g.27715589G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs1072461|2944|1||||||||||||Ensembl||G|G||||chr22:g.27715589G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs1072461|3903|-1||||||||||||Ensembl||G|G||||chr22:g.27715589G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs1072461|619|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27715589G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000417957,ENST00000440255,ENST00000733137,ENST00000733448,ENST00000733548,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000227838,ENSG00000295854,ENSG00000295876,ENSG00000295890,125177369;VEP_SYMBOL=.,CPMER,.,.,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=31301;gnomADv4_1_AC_joint_XX=15900;gnomADv4_1_AC_joint_XY=15401;gnomADv4_1_AF_grpmax_joint=0.257849;gnomADv4_1_AF_joint=0.2058;gnomADv4_1_AF_joint_XX=0.20446;gnomADv4_1_AF_joint_XY=0.207203;gnomADv4_1_AN_grpmax_joint=67970;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3647;gnomADv4_1_nhomalt_joint_XX=1840;gnomADv4_1_nhomalt_joint_XY=1807;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27715817 chr22_27715817_C_T C T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=4.748;CADD_Rawscore=0.432502;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs66786460|663|1||||3||||||||Ensembl||C|C||||chr22:g.27715817C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs66786460|847|-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27715817C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+28554G>A|||||||rs66786460||-1||||||||||||Ensembl||C|C||||chr22:g.27715817C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs66786460|2716|1||||||||||||Ensembl||C|C||||chr22:g.27715817C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs66786460|3675|-1||||||||||||Ensembl||C|C||||chr22:g.27715817C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs66786460|847|-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27715817C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000417957,ENST00000440255,ENST00000733137,ENST00000733448,ENST00000733548,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000227838,ENSG00000295854,ENSG00000295876,ENSG00000295890,125177369;VEP_SYMBOL=.,CPMER,.,.,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=39332;gnomADv4_1_AC_joint_XX=20163;gnomADv4_1_AC_joint_XY=19169;gnomADv4_1_AF_grpmax_joint=0.390298;gnomADv4_1_AF_joint=0.258535;gnomADv4_1_AF_joint_XX=0.259278;gnomADv4_1_AF_joint_XY=0.257759;gnomADv4_1_AN_grpmax_joint=41476;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5629;gnomADv4_1_nhomalt_joint_XX=2897;gnomADv4_1_nhomalt_joint_XY=2732;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27715989 chr22_27715989_T_C T C 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.107;CADD_Rawscore=-0.592587;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs4820775|491|1||||3||||||||Ensembl||T|T||||chr22:g.27715989T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs4820775|1019|-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27715989T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+28382A>G|||||||rs4820775||-1||||||||||||Ensembl||T|T||||chr22:g.27715989T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs4820775|2544|1||||||||||||Ensembl||T|T||||chr22:g.27715989T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs4820775|3503|-1||||||||||||Ensembl||T|T||||chr22:g.27715989T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs4820775|1019|-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27715989T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000417957,ENST00000440255,ENST00000733137,ENST00000733448,ENST00000733548,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000227838,ENSG00000295854,ENSG00000295876,ENSG00000295890,125177369;VEP_SYMBOL=.,CPMER,.,.,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=34450;gnomADv4_1_AC_joint_XX=17543;gnomADv4_1_AC_joint_XY=16907;gnomADv4_1_AF_grpmax_joint=0.258779;gnomADv4_1_AF_joint=0.226365;gnomADv4_1_AF_joint_XX=0.225529;gnomADv4_1_AF_joint_XY=0.227239;gnomADv4_1_AN_grpmax_joint=68000;gnomADv4_1_AN_joint=152188;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4105;gnomADv4_1_nhomalt_joint_XX=2084;gnomADv4_1_nhomalt_joint_XY=2021;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27716082 chr22_27716082_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=4.577;CADD_Rawscore=0.416909;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs10427951|398|1||||3||||||||Ensembl||T|T||||chr22:g.27716082T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs10427951|1112|-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27716082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+28289A>G|||||||rs10427951||-1||||||||||||Ensembl||T|T||||chr22:g.27716082T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs10427951|2451|1||||||||||||Ensembl||T|T||||chr22:g.27716082T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs10427951|3410|-1||||||||||||Ensembl||T|T||||chr22:g.27716082T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs10427951|1112|-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27716082T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000417957,ENST00000440255,ENST00000733137,ENST00000733448,ENST00000733548,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000227838,ENSG00000295854,ENSG00000295876,ENSG00000295890,125177369;VEP_SYMBOL=.,CPMER,.,.,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=33819;gnomADv4_1_AC_joint_XX=17211;gnomADv4_1_AC_joint_XY=16608;gnomADv4_1_AF_grpmax_joint=0.258489;gnomADv4_1_AF_joint=0.222344;gnomADv4_1_AF_joint_XX=0.221415;gnomADv4_1_AF_joint_XY=0.223316;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4001;gnomADv4_1_nhomalt_joint_XX=2029;gnomADv4_1_nhomalt_joint_XY=1972;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27716179 chr22_27716179_T_C T C 62 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=62;CADD_PHREDscore=2.589;CADD_Rawscore=0.233229;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs73883617|301|1||||3||||||||Ensembl||T|T||||chr22:g.27716179T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs73883617|1209|-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27716179T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+28192A>G|||||||rs73883617||-1||||||||||||Ensembl||T|T||||chr22:g.27716179T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs73883617|2354|1||||||||||||Ensembl||T|T||||chr22:g.27716179T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs73883617|3313|-1||||||||||||Ensembl||T|T||||chr22:g.27716179T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs73883617|1209|-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27716179T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000417957,ENST00000440255,ENST00000733137,ENST00000733448,ENST00000733548,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000227838,ENSG00000295854,ENSG00000295876,ENSG00000295890,125177369;VEP_SYMBOL=.,CPMER,.,.,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=138472;gnomADv4_1_AC_joint_XX=70680;gnomADv4_1_AC_joint_XY=67792;gnomADv4_1_AF_grpmax_joint=0.997899;gnomADv4_1_AF_joint=0.909779;gnomADv4_1_AF_joint_XX=0.908623;gnomADv4_1_AF_joint_XY=0.910987;gnomADv4_1_AN_grpmax_joint=68050;gnomADv4_1_AN_joint=152204;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=64078;gnomADv4_1_nhomalt_joint_XX=32657;gnomADv4_1_nhomalt_joint_XY=31421;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27716229 chr22_27716229_C_G C G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=5.919;CADD_Rawscore=0.54502;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs10427846|251|1||||3||||||||Ensembl||C|C||||chr22:g.27716229C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs10427846|1259|-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27716229C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+28142G>C|||||||rs10427846||-1||||||||||||Ensembl||C|C||||chr22:g.27716229C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs10427846|2304|1||||||||||||Ensembl||C|C||||chr22:g.27716229C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs10427846|3263|-1||||||||||||Ensembl||C|C||||chr22:g.27716229C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs10427846|1259|-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27716229C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000417957,ENST00000440255,ENST00000733137,ENST00000733448,ENST00000733548,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000227838,ENSG00000295854,ENSG00000295876,ENSG00000295890,125177369;VEP_SYMBOL=.,CPMER,.,.,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=31373;gnomADv4_1_AC_joint_XX=15939;gnomADv4_1_AC_joint_XY=15434;gnomADv4_1_AF_grpmax_joint=0.258371;gnomADv4_1_AF_joint=0.206222;gnomADv4_1_AF_joint_XX=0.204935;gnomADv4_1_AF_joint_XY=0.207569;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=152132;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3660;gnomADv4_1_nhomalt_joint_XX=1845;gnomADv4_1_nhomalt_joint_XY=1815;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27716628 chr22_27716628_G_C G C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.343;CADD_Rawscore=0.306525;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||1/1|ENST00000417957.1:n.84+65G>C|||||||rs73883618||1||||3||||||||Ensembl||G|G||||chr22:g.27716628G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs73883618|1658|-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27716628G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+27743C>G|||||||rs73883618||-1||||||||||||Ensembl||G|G||||chr22:g.27716628G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs73883618|1905|1||||||||||||Ensembl||G|G||||chr22:g.27716628G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs73883618|2864|-1||||||||||||Ensembl||G|G||||chr22:g.27716628G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs73883618|1658|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27716628G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000417957,ENST00000440255,ENST00000733137,ENST00000733448,ENST00000733548,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000227838,ENSG00000295854,ENSG00000295876,ENSG00000295890,125177369;VEP_SYMBOL=.,CPMER,.,.,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=141666;gnomADv4_1_AC_joint_XX=72352;gnomADv4_1_AC_joint_XY=69314;gnomADv4_1_AF_grpmax_joint=0.998281;gnomADv4_1_AF_joint=0.930092;gnomADv4_1_AF_joint_XX=0.929711;gnomADv4_1_AF_joint_XY=0.930489;gnomADv4_1_AN_grpmax_joint=68046;gnomADv4_1_AN_joint=152314;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74492;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=66505;gnomADv4_1_nhomalt_joint_XX=33943;gnomADv4_1_nhomalt_joint_XY=32562;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27717234 chr22_27717241_G_A;chr22_27717234_CTCACGAGAACTCCCTCACTA_C CTCACGAGAACTCCCTCACTA C 38 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=38;CADDIndel_PHREDscore=3.813;CADDIndel_Rawscore=0.348611;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||1/1|ENST00000417957.1:n.84+722_84+741del|||||||rs200369409||1||||3||||||||Ensembl||TCACGAGAACTCCCTCACTA|TCACGAGAACTCCCTCACTA|||50|chr22:g.27717285_27717304del|||||||||||||,-|upstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs200369409|2265|-1||HGNC|HGNC:55992|3||||||||Ensembl||TCACGAGAACTCCCTCACTA|TCACGAGAACTCCCTCACTA||||chr22:g.27717285_27717304del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+27117_391+27136del|||||||rs200369409||-1||||||||||||Ensembl||TCACGAGAACTCCCTCACTA|TCACGAGAACTCCCTCACTA||||chr22:g.27717285_27717304del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs200369409|1279|1||||||||||||Ensembl||TCACGAGAACTCCCTCACTA|TCACGAGAACTCCCTCACTA||||chr22:g.27717285_27717304del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs200369409|2238|-1||||||||||||Ensembl||TCACGAGAACTCCCTCACTA|TCACGAGAACTCCCTCACTA||||chr22:g.27717285_27717304del|||||||||||||,-|upstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs200369409|2265|-1||EntrezGene|HGNC:55992|||||||||RefSeq||TCACGAGAACTCCCTCACTA|TCACGAGAACTCCCTCACTA||||chr22:g.27717285_27717304del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000417957,ENST00000440255,ENST00000733137,ENST00000733448,ENST00000733548,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000227838,ENSG00000295854,ENSG00000295876,ENSG00000295890,125177369;VEP_SYMBOL=.,CPMER,.,.,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=26746;gnomADv4_1_AC_joint_XX=13898;gnomADv4_1_AC_joint_XY=12848;gnomADv4_1_AF_grpmax_joint=0.323817;gnomADv4_1_AF_joint=0.177615;gnomADv4_1_AF_joint_XX=0.180433;gnomADv4_1_AF_joint_XY=0.174665;gnomADv4_1_AN_grpmax_joint=40668;gnomADv4_1_AN_joint=150584;gnomADv4_1_AN_joint_XX=77026;gnomADv4_1_AN_joint_XY=73558;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3078;gnomADv4_1_nhomalt_joint_XX=1671;gnomADv4_1_nhomalt_joint_XY=1407;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27717241 chr22_27717241_G_A;chr22_27717234_CTCACGAGAACTCCCTCACTA_C G A 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=35;CADD_PHREDscore=6.204;CADD_Rawscore=0.573934;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||1/1|ENST00000417957.1:n.84+678G>A|||||||rs9620726||1||||3||||||||Ensembl||G|G||||chr22:g.27717241G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs9620726|2271|-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27717241G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+27130C>T|||||||rs9620726||-1||||||||||||Ensembl||G|G||||chr22:g.27717241G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs9620726|1292|1||||||||||||Ensembl||G|G||||chr22:g.27717241G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs9620726|2251|-1||||||||||||Ensembl||G|G||||chr22:g.27717241G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs9620726|2271|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27717241G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000417957,ENST00000440255,ENST00000733137,ENST00000733448,ENST00000733548,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000227838,ENSG00000295854,ENSG00000295876,ENSG00000295890,125177369;VEP_SYMBOL=.,CPMER,.,.,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=29938;gnomADv4_1_AC_joint_XX=15191;gnomADv4_1_AC_joint_XY=14747;gnomADv4_1_AF_grpmax_joint=0.29398;gnomADv4_1_AF_joint=0.27135;gnomADv4_1_AF_joint_XX=0.270505;gnomADv4_1_AF_joint_XY=0.272226;gnomADv4_1_AN_grpmax_joint=56412;gnomADv4_1_AN_joint=110330;gnomADv4_1_AN_joint_XX=56158;gnomADv4_1_AN_joint_XY=54172;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3340;gnomADv4_1_nhomalt_joint_XX=1688;gnomADv4_1_nhomalt_joint_XY=1652;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27718633 chr22_27718633_C_T C T 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=4.622;CADD_Rawscore=0.420941;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||1/1|ENST00000417957.1:n.84+2070C>T|||||||rs1076120&rs2149023180&rs2149023183&rs2149023184||1||||3||||||||Ensembl||C|C||||chr22:g.27718633C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs1076120&rs2149023180&rs2149023183&rs2149023184|3663|-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27718633C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+25738G>A|||||||rs1076120&rs2149023180&rs2149023183&rs2149023184||-1||||||||||||Ensembl||C|C||||chr22:g.27718633C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA|1/1||ENST00000733448.1:n.101C>T||101|||||rs1076120&rs2149023180&rs2149023183&rs2149023184||1||||||||||||Ensembl||C|C||||chr22:g.27718633C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs1076120&rs2149023180&rs2149023183&rs2149023184|859|-1||||||||||||Ensembl||C|C||||chr22:g.27718633C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs1076120&rs2149023180&rs2149023183&rs2149023184|3663|-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27718633C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F23G|enhancer||||||||||rs1076120&rs2149023180&rs2149023183&rs2149023184|||||||||||||||||||||chr22:g.27718633C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000417957,ENST00000440255,ENST00000733137,ENST00000733448,ENST00000733548,NR_186699.1,ENSR22_9F23G;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226169,ENSG00000227838,ENSG00000295854,ENSG00000295876,ENSG00000295890,125177369,.;VEP_SYMBOL=.,CPMER,.,.,.,CPMER,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32633;gnomADv4_1_AC_joint_XX=16493;gnomADv4_1_AC_joint_XY=16140;gnomADv4_1_AF_grpmax_joint=0.269328;gnomADv4_1_AF_joint=0.214617;gnomADv4_1_AF_joint_XX=0.212145;gnomADv4_1_AF_joint_XY=0.217204;gnomADv4_1_AN_grpmax_joint=67958;gnomADv4_1_AN_joint=152052;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3989;gnomADv4_1_nhomalt_joint_XX=1993;gnomADv4_1_nhomalt_joint_XY=1996;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27719069 chr22_27719069_G_A G A 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.252;CADD_Rawscore=-0.366763;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||1/1|ENST00000417957.1:n.85-2242G>A|||||||rs5762330||1||||3||||||||Ensembl||G|G||||chr22:g.27719069G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs5762330|4099|-1||HGNC|HGNC:55992|3||||||||Ensembl||G|G||||chr22:g.27719069G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+25302C>T|||||||rs5762330||-1||||||||||||Ensembl||G|G||||chr22:g.27719069G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA|1/1||ENST00000733448.1:n.537G>A||537|||||rs5762330||1||||||||||||Ensembl||G|G||||chr22:g.27719069G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs5762330|423|-1||||||||||||Ensembl||G|G||||chr22:g.27719069G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs5762330|4099|-1||EntrezGene|HGNC:55992|||||||||RefSeq||G|G||||chr22:g.27719069G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000417957,ENST00000440255,ENST00000733137,ENST00000733448,ENST00000733548,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000227838,ENSG00000295854,ENSG00000295876,ENSG00000295890,125177369;VEP_SYMBOL=.,CPMER,.,.,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=4970;gnomADv4_1_AC_joint_XX=2289;gnomADv4_1_AC_joint_XY=2681;gnomADv4_1_AF_grpmax_joint=0.32467;gnomADv4_1_AF_joint=0.032636;gnomADv4_1_AF_joint_XX=0.0294125;gnomADv4_1_AF_joint_XY=0.0360049;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152286;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=407;gnomADv4_1_nhomalt_joint_XX=186;gnomADv4_1_nhomalt_joint_XY=221;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27719096 chr22_27719096_T_G T G 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.016;CADD_Rawscore=-1.1233;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||1/1|ENST00000417957.1:n.85-2215T>G|||||||rs8140468||1||||3||||||||Ensembl||T|T||||chr22:g.27719096T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs8140468|4126|-1||HGNC|HGNC:55992|3||||||||Ensembl||T|T||||chr22:g.27719096T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+25275A>C|||||||rs8140468||-1||||||||||||Ensembl||T|T||||chr22:g.27719096T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA|1/1||ENST00000733448.1:n.564T>G||564|||||rs8140468||1||||||||||||Ensembl||T|T||||chr22:g.27719096T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs8140468|396|-1||||||||||||Ensembl||T|T||||chr22:g.27719096T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs8140468|4126|-1||EntrezGene|HGNC:55992|||||||||RefSeq||T|T||||chr22:g.27719096T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000417957,ENST00000440255,ENST00000733137,ENST00000733448,ENST00000733548,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000227838,ENSG00000295854,ENSG00000295876,ENSG00000295890,125177369;VEP_SYMBOL=.,CPMER,.,.,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=142772;gnomADv4_1_AC_joint_XX=72937;gnomADv4_1_AC_joint_XY=69835;gnomADv4_1_AF_grpmax_joint=0.998516;gnomADv4_1_AF_joint=0.937624;gnomADv4_1_AF_joint_XX=0.937373;gnomADv4_1_AF_joint_XY=0.937886;gnomADv4_1_AN_grpmax_joint=68038;gnomADv4_1_AN_joint=152270;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=67417;gnomADv4_1_nhomalt_joint_XX=34408;gnomADv4_1_nhomalt_joint_XY=33009;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27719358 chr22_27719358_A_T A T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=3.85;CADD_Rawscore=0.351887;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||1/1|ENST00000417957.1:n.85-1953A>T|||||||rs4822932||1||||3||||||||Ensembl||A|A||||chr22:g.27719358A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs4822932|4388|-1||HGNC|HGNC:55992|3||||||||Ensembl||A|A||||chr22:g.27719358A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+25013T>A|||||||rs4822932||-1||||||||||||Ensembl||A|A||||chr22:g.27719358A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs4822932|179|1||||||||||||Ensembl||A|A||||chr22:g.27719358A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs4822932|134|-1||||||||||||Ensembl||A|A||||chr22:g.27719358A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs4822932|4388|-1||EntrezGene|HGNC:55992|||||||||RefSeq||A|A||||chr22:g.27719358A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000417957,ENST00000440255,ENST00000733137,ENST00000733448,ENST00000733548,NR_186699.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000227838,ENSG00000295854,ENSG00000295876,ENSG00000295890,125177369;VEP_SYMBOL=.,CPMER,.,.,.,CPMER;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=83863;gnomADv4_1_AC_joint_XX=43337;gnomADv4_1_AC_joint_XY=40526;gnomADv4_1_AF_grpmax_joint=0.744898;gnomADv4_1_AF_joint=0.551926;gnomADv4_1_AF_joint_XX=0.55792;gnomADv4_1_AF_joint_XY=0.545658;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151946;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=23735;gnomADv4_1_nhomalt_joint_XX=12345;gnomADv4_1_nhomalt_joint_XY=11390;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27719680 chr22_27719680_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=2.261;CADD_Rawscore=0.196547;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||1/1|ENST00000417957.1:n.85-1631C>T|||||||rs544349525||1||||3||||||||Ensembl||C|C||||chr22:g.27719680C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CPMER|ENSG00000227838|Transcript|ENST00000440255|lncRNA||||||||||rs544349525|4710|-1||HGNC|HGNC:55992|3||||||||Ensembl||C|C||||chr22:g.27719680C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+24691G>A|||||||rs544349525||-1||||||||||||Ensembl||C|C||||chr22:g.27719680C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs544349525|501|1||||||||||||Ensembl||C|C||||chr22:g.27719680C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA|1/1||ENST00000733548.1:n.78G>A||78|||||rs544349525||-1||||||||||||Ensembl||C|C||||chr22:g.27719680C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CPMER|125177369|Transcript|NR_186699.1|lncRNA||||||||||rs544349525|4710|-1||EntrezGene|HGNC:55992|||||||||RefSeq||C|C||||chr22:g.27719680C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F23P|enhancer||||||||||rs544349525|||||||||||||||||||||chr22:g.27719680C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000417957,ENST00000440255,ENST00000733137,ENST00000733448,ENST00000733548,NR_186699.1,ENSR22_9F23P;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226169,ENSG00000227838,ENSG00000295854,ENSG00000295876,ENSG00000295890,125177369,.;VEP_SYMBOL=.,CPMER,.,.,.,CPMER,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=183;gnomADv4_1_AC_joint_XX=93;gnomADv4_1_AC_joint_XY=90;gnomADv4_1_AF_grpmax_joint=0.00207211;gnomADv4_1_AF_joint=0.00120186;gnomADv4_1_AF_joint_XX=0.00119494;gnomADv4_1_AF_joint_XY=0.00120909;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152264;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27720037 chr22_27720037_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.89;CADD_Rawscore=0.149018;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||1/1|ENST00000417957.1:n.85-1274A>G|||||||rs57097839||1||||3||||||||Ensembl||A|A||||chr22:g.27720037A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+24334T>C|||||||rs57097839||-1||||||||||||Ensembl||A|A||||chr22:g.27720037A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs57097839|858|1||||||||||||Ensembl||A|A||||chr22:g.27720037A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs57097839|280|-1||||||||||||Ensembl||A|A||||chr22:g.27720037A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000417957,ENST00000733137,ENST00000733448,ENST00000733548;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000295854,ENSG00000295876,ENSG00000295890;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=142457;gnomADv4_1_AC_joint_XX=72767;gnomADv4_1_AC_joint_XY=69690;gnomADv4_1_AF_grpmax_joint=0.998486;gnomADv4_1_AF_joint=0.935924;gnomADv4_1_AF_joint_XX=0.935477;gnomADv4_1_AF_joint_XY=0.936391;gnomADv4_1_AN_grpmax_joint=68032;gnomADv4_1_AN_joint=152210;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=67185;gnomADv4_1_nhomalt_joint_XX=34278;gnomADv4_1_nhomalt_joint_XY=32907;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27720325 chr22_27720325_T_A T A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.022;CADD_Rawscore=-1.02666;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||1/1|ENST00000417957.1:n.85-986T>A|||||||rs111299797||1||||3||||||||Ensembl||T|T||||chr22:g.27720325T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+24046A>T|||||||rs111299797||-1||||||||||||Ensembl||T|T||||chr22:g.27720325T>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs111299797|1146|1||||||||||||Ensembl||T|T||||chr22:g.27720325T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs111299797|568|-1||||||||||||Ensembl||T|T||||chr22:g.27720325T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000417957,ENST00000733137,ENST00000733448,ENST00000733548;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000295854,ENSG00000295876,ENSG00000295890;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=33830;gnomADv4_1_AC_joint_XX=17150;gnomADv4_1_AC_joint_XY=16680;gnomADv4_1_AF_grpmax_joint=0.270288;gnomADv4_1_AF_joint=0.223174;gnomADv4_1_AF_joint_XX=0.221136;gnomADv4_1_AF_joint_XY=0.225308;gnomADv4_1_AN_grpmax_joint=67872;gnomADv4_1_AN_joint=151586;gnomADv4_1_AN_joint_XX=77554;gnomADv4_1_AN_joint_XY=74032;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4165;gnomADv4_1_nhomalt_joint_XX=2080;gnomADv4_1_nhomalt_joint_XY=2085;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27720456 chr22_27720456_T_TA T TA 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=2.747;CADDIndel_Rawscore=0.249572;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||1/1|ENST00000417957.1:n.85-844dup|||||||rs34974312||1||||3||||||||Ensembl||||||11|chr22:g.27720467dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+23914dup|||||||rs34974312||-1||||||||||||Ensembl|||||||chr22:g.27720467dup|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs34974312|1277|1||||||||||||Ensembl|||||||chr22:g.27720467dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs34974312|699|-1||||||||||||Ensembl|||||||chr22:g.27720467dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000417957,ENST00000733137,ENST00000733448,ENST00000733548;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000295854,ENSG00000295876,ENSG00000295890;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=47443;gnomADv4_1_AC_joint_XX=24527;gnomADv4_1_AC_joint_XY=22916;gnomADv4_1_AF_grpmax_joint=0.541667;gnomADv4_1_AF_joint=0.323128;gnomADv4_1_AF_joint_XX=0.324783;gnomADv4_1_AF_joint_XY=0.321375;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=146824;gnomADv4_1_AN_joint_XX=75518;gnomADv4_1_AN_joint_XY=71306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8505;gnomADv4_1_nhomalt_joint_XX=4417;gnomADv4_1_nhomalt_joint_XY=4088;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27720638 chr22_27720638_T_A T A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.282;CADD_Rawscore=-0.338269;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||1/1|ENST00000417957.1:n.85-673T>A|||||||rs5762332||1||||3||||||||Ensembl||T|T||||chr22:g.27720638T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+23733A>T|||||||rs5762332||-1||||||||||||Ensembl||T|T||||chr22:g.27720638T>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs5762332|1459|1||||||||||||Ensembl||T|T||||chr22:g.27720638T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs5762332|881|-1||||||||||||Ensembl||T|T||||chr22:g.27720638T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000417957,ENST00000733137,ENST00000733448,ENST00000733548;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000295854,ENSG00000295876,ENSG00000295890;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=604;gnomADv4_1_AC_joint_XX=266;gnomADv4_1_AC_joint_XY=338;gnomADv4_1_AF_grpmax_joint=0.0898285;gnomADv4_1_AF_joint=0.00399762;gnomADv4_1_AF_joint_XX=0.00343998;gnomADv4_1_AF_joint_XY=0.00458218;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=151090;gnomADv4_1_AN_joint_XX=77326;gnomADv4_1_AN_joint_XY=73764;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11;gnomADv4_1_nhomalt_joint_XX=5;gnomADv4_1_nhomalt_joint_XY=6;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27720687 chr22_27720687_G_A G A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.25;CADD_Rawscore=0.040327;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||1/1|ENST00000417957.1:n.85-624G>A|||||||rs2344406||1||||3||||||||Ensembl||G|G||||chr22:g.27720687G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+23684C>T|||||||rs2344406||-1||||||||||||Ensembl||G|G||||chr22:g.27720687G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs2344406|1508|1||||||||||||Ensembl||G|G||||chr22:g.27720687G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs2344406|930|-1||||||||||||Ensembl||G|G||||chr22:g.27720687G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000417957,ENST00000733137,ENST00000733448,ENST00000733548;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000295854,ENSG00000295876,ENSG00000295890;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=142628;gnomADv4_1_AC_joint_XX=72881;gnomADv4_1_AC_joint_XY=69747;gnomADv4_1_AF_grpmax_joint=0.998545;gnomADv4_1_AF_joint=0.937812;gnomADv4_1_AF_joint_XX=0.937473;gnomADv4_1_AF_joint_XY=0.938166;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152086;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=67360;gnomADv4_1_nhomalt_joint_XX=34385;gnomADv4_1_nhomalt_joint_XY=32975;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27720781 chr22_27720781_C_G C G 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.234;CADD_Rawscore=0.036946;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||1/1|ENST00000417957.1:n.85-530C>G|||||||rs2005114||1||||3||||||||Ensembl||C|C||||chr22:g.27720781C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+23590G>C|||||||rs2005114||-1||||||||||||Ensembl||C|C||||chr22:g.27720781C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs2005114|1602|1||||||||||||Ensembl||C|C||||chr22:g.27720781C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs2005114|1024|-1||||||||||||Ensembl||C|C||||chr22:g.27720781C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000417957,ENST00000733137,ENST00000733448,ENST00000733548;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000295854,ENSG00000295876,ENSG00000295890;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=48752;gnomADv4_1_AC_joint_XX=25056;gnomADv4_1_AC_joint_XY=23696;gnomADv4_1_AF_grpmax_joint=0.547945;gnomADv4_1_AF_joint=0.32088;gnomADv4_1_AF_joint_XX=0.322488;gnomADv4_1_AF_joint_XY=0.319198;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151932;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8977;gnomADv4_1_nhomalt_joint_XX=4623;gnomADv4_1_nhomalt_joint_XY=4354;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27721210 chr22_27721210_AC_A AC A 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=18;CADDIndel_PHREDscore=0.438;CADDIndel_Rawscore=-0.226199;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||1/1|ENST00000417957.1:n.85-93del|||||||rs34618996||1||||3||||||||Ensembl||C|C|||7|chr22:g.27721218del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+23160del|||||||rs34618996||-1||||||||||||Ensembl||C|C||||chr22:g.27721218del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs34618996|2032|1||||||||||||Ensembl||C|C||||chr22:g.27721218del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs34618996|1454|-1||||||||||||Ensembl||C|C||||chr22:g.27721218del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000417957,ENST00000733137,ENST00000733448,ENST00000733548;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000295854,ENSG00000295876,ENSG00000295890;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=71640;gnomADv4_1_AC_joint_XX=37404;gnomADv4_1_AC_joint_XY=34236;gnomADv4_1_AF_grpmax_joint=0.761905;gnomADv4_1_AF_joint=0.585984;gnomADv4_1_AF_joint_XX=0.586895;gnomADv4_1_AF_joint_XY=0.584991;gnomADv4_1_AN_grpmax_joint=252;gnomADv4_1_AN_joint=122256;gnomADv4_1_AN_joint_XX=63732;gnomADv4_1_AN_joint_XY=58524;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=18247;gnomADv4_1_nhomalt_joint_XX=9559;gnomADv4_1_nhomalt_joint_XY=8688;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27721309 chr22_27721309_A_T A T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.603;CADD_Rawscore=0.234719;CSQ=T|splice_acceptor_variant&non_coding_transcript_variant|HIGH||ENSG00000226169|Transcript|ENST00000417957|lncRNA||1/1|ENST00000417957.1:n.85-2A>T|||||||rs2004521||1||||3||||||||Ensembl||A|A||||chr22:g.27721309A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+23062T>A|||||||rs2004521||-1||||||||||||Ensembl||A|A||||chr22:g.27721309A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs2004521|2130|1||||||||||||Ensembl||A|A||||chr22:g.27721309A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs2004521|1552|-1||||||||||||Ensembl||A|A||||chr22:g.27721309A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000417957,ENST00000733137,ENST00000733448,ENST00000733548;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000295854,ENSG00000295876,ENSG00000295890;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=83483;gnomADv4_1_AC_joint_XX=43169;gnomADv4_1_AC_joint_XY=40314;gnomADv4_1_AF_grpmax_joint=0.748276;gnomADv4_1_AF_joint=0.552487;gnomADv4_1_AF_joint_XX=0.557725;gnomADv4_1_AF_joint_XY=0.546987;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=151104;gnomADv4_1_AN_joint_XX=77402;gnomADv4_1_AN_joint_XY=73702;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=23560;gnomADv4_1_nhomalt_joint_XX=12267;gnomADv4_1_nhomalt_joint_XY=11293;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27721795 chr22_27721795_C_T C T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.73;CADD_Rawscore=-0.098413;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs6005592|118|1||||3||||||||Ensembl||C|C||||chr22:g.27721795C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+22576G>A|||||||rs6005592||-1||||||||||||Ensembl||C|C||||chr22:g.27721795C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs6005592|2616|1||||||||||||Ensembl||C|C||||chr22:g.27721795C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs6005592|2038|-1||||||||||||Ensembl||C|C||||chr22:g.27721795C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000417957,ENST00000733137,ENST00000733448,ENST00000733548;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000295854,ENSG00000295876,ENSG00000295890;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=83347;gnomADv4_1_AC_joint_XX=43076;gnomADv4_1_AC_joint_XY=40271;gnomADv4_1_AF_grpmax_joint=0.746622;gnomADv4_1_AF_joint=0.548631;gnomADv4_1_AF_joint_XX=0.554517;gnomADv4_1_AF_joint_XY=0.542473;gnomADv4_1_AN_grpmax_joint=296;gnomADv4_1_AN_joint=151918;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=23445;gnomADv4_1_nhomalt_joint_XX=12189;gnomADv4_1_nhomalt_joint_XY=11256;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27721808 chr22_27721808_G_A G A 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.877;CADD_Rawscore=-0.051539;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs6005593|131|1||||3||||||||Ensembl||G|G||||chr22:g.27721808G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+22563C>T|||||||rs6005593||-1||||||||||||Ensembl||G|G||||chr22:g.27721808G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs6005593|2629|1||||||||||||Ensembl||G|G||||chr22:g.27721808G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs6005593|2051|-1||||||||||||Ensembl||G|G||||chr22:g.27721808G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000417957,ENST00000733137,ENST00000733448,ENST00000733548;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000295854,ENSG00000295876,ENSG00000295890;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=18631;gnomADv4_1_AC_joint_XX=9797;gnomADv4_1_AC_joint_XY=8834;gnomADv4_1_AF_grpmax_joint=0.25279;gnomADv4_1_AF_joint=0.122534;gnomADv4_1_AF_joint_XX=0.126042;gnomADv4_1_AF_joint_XY=0.118864;gnomADv4_1_AN_grpmax_joint=41402;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1650;gnomADv4_1_nhomalt_joint_XX=903;gnomADv4_1_nhomalt_joint_XY=747;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27722112 chr22_27722112_A_T A T 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.118;CADD_Rawscore=0.179138;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs5752623|435|1||||3||||||||Ensembl||A|A||||chr22:g.27722112A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+22259T>A|||||||rs5752623||-1||||||||||||Ensembl||A|A||||chr22:g.27722112A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs5752623|2933|1||||||||||||Ensembl||A|A||||chr22:g.27722112A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs5752623|2355|-1||||||||||||Ensembl||A|A||||chr22:g.27722112A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000417957,ENST00000733137,ENST00000733448,ENST00000733548;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000295854,ENSG00000295876,ENSG00000295890;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=5290;gnomADv4_1_AC_joint_XX=2461;gnomADv4_1_AC_joint_XY=2829;gnomADv4_1_AF_grpmax_joint=0.329585;gnomADv4_1_AF_joint=0.0347323;gnomADv4_1_AF_joint_XX=0.0316194;gnomADv4_1_AF_joint_XY=0.0379854;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152308;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=424;gnomADv4_1_nhomalt_joint_XX=199;gnomADv4_1_nhomalt_joint_XY=225;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27723311 chr22_27723311_C_T C T 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.784;CADD_Rawscore=-0.080269;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs59189945|1634|1||||3||||||||Ensembl||C|C||||chr22:g.27723311C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+21060G>A|||||||rs59189945||-1||||||||||||Ensembl||C|C||||chr22:g.27723311C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs59189945|4132|1||||||||||||Ensembl||C|C||||chr22:g.27723311C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs59189945|3554|-1||||||||||||Ensembl||C|C||||chr22:g.27723311C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000417957,ENST00000733137,ENST00000733448,ENST00000733548;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000295854,ENSG00000295876,ENSG00000295890;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=13761;gnomADv4_1_AC_joint_XX=7309;gnomADv4_1_AC_joint_XY=6452;gnomADv4_1_AF_grpmax_joint=0.196043;gnomADv4_1_AF_joint=0.0904187;gnomADv4_1_AF_joint_XX=0.0939774;gnomADv4_1_AF_joint_XY=0.0866995;gnomADv4_1_AN_grpmax_joint=41496;gnomADv4_1_AN_joint=152192;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=988;gnomADv4_1_nhomalt_joint_XX=535;gnomADv4_1_nhomalt_joint_XY=453;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27724165 chr22_27724165_G_C G C 25 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=25;CADD_PHREDscore=1.11;CADD_Rawscore=0.009371;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs60542726|2488|1||||3||||||||Ensembl||G|G||||chr22:g.27724165G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+20206C>G|||||||rs60542726||-1||||||||||||Ensembl||G|G||||chr22:g.27724165G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295876|Transcript|ENST00000733448|lncRNA||||||||||rs60542726|4986|1||||||||||||Ensembl||G|G||||chr22:g.27724165G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs60542726|4408|-1||||||||||||Ensembl||G|G||||chr22:g.27724165G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000417957,ENST00000733137,ENST00000733448,ENST00000733548;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000295854,ENSG00000295876,ENSG00000295890;VEP_SYMBOL=.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=13745;gnomADv4_1_AC_joint_XX=7308;gnomADv4_1_AC_joint_XY=6437;gnomADv4_1_AF_grpmax_joint=0.195473;gnomADv4_1_AF_joint=0.0902685;gnomADv4_1_AF_joint_XX=0.0939066;gnomADv4_1_AF_joint_XY=0.0864654;gnomADv4_1_AN_grpmax_joint=41530;gnomADv4_1_AN_joint=152268;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=984;gnomADv4_1_nhomalt_joint_XX=534;gnomADv4_1_nhomalt_joint_XY=450;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27724414 chr22_27724414_G_A G A 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=7.555;CADD_Rawscore=0.719094;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs72617281|2737|1||||3||||||||Ensembl||G|G||||chr22:g.27724414G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+19957C>T|||||||rs72617281||-1||||||||||||Ensembl||G|G||||chr22:g.27724414G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs72617281|4657|-1||||||||||||Ensembl||G|G||||chr22:g.27724414G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000417957,ENST00000733137,ENST00000733548;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000295854,ENSG00000295890;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=5240;gnomADv4_1_AC_joint_XX=2442;gnomADv4_1_AC_joint_XY=2798;gnomADv4_1_AF_grpmax_joint=0.321955;gnomADv4_1_AF_joint=0.0344144;gnomADv4_1_AF_joint_XX=0.0313793;gnomADv4_1_AF_joint_XY=0.0375873;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152262;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=410;gnomADv4_1_nhomalt_joint_XX=192;gnomADv4_1_nhomalt_joint_XY=218;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27724503 chr22_27724503_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=6.205;CADD_Rawscore=0.574026;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs72617282|2826|1||||3||||||||Ensembl||G|G||||chr22:g.27724503G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+19868C>T|||||||rs72617282||-1||||||||||||Ensembl||G|G||||chr22:g.27724503G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295890|Transcript|ENST00000733548|lncRNA||||||||||rs72617282|4746|-1||||||||||||Ensembl||G|G||||chr22:g.27724503G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000417957,ENST00000733137,ENST00000733548;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000295854,ENSG00000295890;VEP_SYMBOL=.,.,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=5265;gnomADv4_1_AC_joint_XX=2454;gnomADv4_1_AC_joint_XY=2811;gnomADv4_1_AF_grpmax_joint=0.322162;gnomADv4_1_AF_joint=0.0345804;gnomADv4_1_AF_joint_XX=0.0315335;gnomADv4_1_AF_joint_XY=0.037766;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152254;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=412;gnomADv4_1_nhomalt_joint_XX=193;gnomADv4_1_nhomalt_joint_XY=219;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27725604 chr22_27725604_T_A T A 39 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.899;CADD_Rawscore=-0.045134;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs62235596|3927|1||||3||||||||Ensembl||T|T||||chr22:g.27725604T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+18767A>T|||||||rs62235596||-1||||||||||||Ensembl||T|T||||chr22:g.27725604T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000417957,ENST00000733137;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000295854;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=118881;gnomADv4_1_AC_joint_XX=62198;gnomADv4_1_AC_joint_XY=56683;gnomADv4_1_AF_grpmax_joint=0.998723;gnomADv4_1_AF_joint=0.954469;gnomADv4_1_AF_joint_XX=0.953431;gnomADv4_1_AF_joint_XY=0.955611;gnomADv4_1_AN_grpmax_joint=60284;gnomADv4_1_AN_joint=124552;gnomADv4_1_AN_joint_XX=65236;gnomADv4_1_AN_joint_XY=59316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=56621;gnomADv4_1_nhomalt_joint_XX=29589;gnomADv4_1_nhomalt_joint_XY=27032;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27725617 chr22_27725617_G_C G C 36 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.031;CADD_Rawscore=-0.009821;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000226169|Transcript|ENST00000417957|lncRNA||||||||||rs72617283|3940|1||||3||||||||Ensembl||G|G||||chr22:g.27725617G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+18754C>G|||||||rs72617283||-1||||||||||||Ensembl||G|G||||chr22:g.27725617G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000417957,ENST00000733137;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000226169,ENSG00000295854;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=50730;gnomADv4_1_AC_joint_XX=26334;gnomADv4_1_AC_joint_XY=24396;gnomADv4_1_AF_grpmax_joint=0.703056;gnomADv4_1_AF_joint=0.611382;gnomADv4_1_AF_joint_XX=0.612732;gnomADv4_1_AF_joint_XY=0.60993;gnomADv4_1_AN_grpmax_joint=3600;gnomADv4_1_AN_joint=82976;gnomADv4_1_AN_joint_XX=42978;gnomADv4_1_AN_joint_XY=39998;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10258;gnomADv4_1_nhomalt_joint_XX=5332;gnomADv4_1_nhomalt_joint_XY=4926;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27726713 chr22_27726713_A_G A G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.114;CADD_Rawscore=-0.576855;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+17658T>C|||||||rs72617284||-1||||||||||||Ensembl||A|A||||chr22:g.27726713A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4Q9P|enhancer||||||||||rs72617284|||||||||||||||||||||chr22:g.27726713A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000733137,ENSR22_C4Q9P;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000295854,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=19301;gnomADv4_1_AC_joint_XX=9488;gnomADv4_1_AC_joint_XY=9813;gnomADv4_1_AF_grpmax_joint=0.360163;gnomADv4_1_AF_joint=0.126788;gnomADv4_1_AF_joint_XX=0.121941;gnomADv4_1_AF_joint_XY=0.131856;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152230;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1471;gnomADv4_1_nhomalt_joint_XX=717;gnomADv4_1_nhomalt_joint_XY=754;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27726798 chr22_27726798_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.304;CADD_Rawscore=-0.318874;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+17573A>G|||||||rs4605478||-1||||||||||||Ensembl||T|T||||chr22:g.27726798T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4Q9P|enhancer||||||||||rs4605478|||||||||||||||||||||chr22:g.27726798T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000733137,ENSR22_C4Q9P;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000295854,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=142861;gnomADv4_1_AC_joint_XX=73002;gnomADv4_1_AC_joint_XY=69859;gnomADv4_1_AF_grpmax_joint=0.998045;gnomADv4_1_AF_joint=0.93922;gnomADv4_1_AF_joint_XX=0.938691;gnomADv4_1_AF_joint_XY=0.939773;gnomADv4_1_AN_grpmax_joint=68022;gnomADv4_1_AN_joint=152106;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=67535;gnomADv4_1_nhomalt_joint_XX=34472;gnomADv4_1_nhomalt_joint_XY=33063;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27727651 chr22_27727651_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.971;CADD_Rawscore=0.160023;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+16720G>A|||||||rs5752624||-1||||||||||||Ensembl||C|C||||chr22:g.27727651C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=5216;gnomADv4_1_AC_joint_XX=2440;gnomADv4_1_AC_joint_XY=2776;gnomADv4_1_AF_grpmax_joint=0.317144;gnomADv4_1_AF_joint=0.0342473;gnomADv4_1_AF_joint_XX=0.0313455;gnomADv4_1_AF_joint_XY=0.0372808;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152304;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=404;gnomADv4_1_nhomalt_joint_XX=187;gnomADv4_1_nhomalt_joint_XY=217;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27728536 chr22_27728536_GAGAA_G GAGAA G 21 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=21;CADDIndel_PHREDscore=0.422;CADDIndel_Rawscore=-0.235523;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+15831_391+15834del|||||||rs71891435||-1||||||||||||Ensembl||AGAA|AGAA||||chr22:g.27728602_27728605del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=670;gnomADv4_1_AC_joint_XX=375;gnomADv4_1_AC_joint_XY=295;gnomADv4_1_AF_grpmax_joint=0.0167222;gnomADv4_1_AF_joint=0.0114031;gnomADv4_1_AF_joint_XX=0.0119533;gnomADv4_1_AF_joint_XY=0.0107727;gnomADv4_1_AN_grpmax_joint=13216;gnomADv4_1_AN_joint=58756;gnomADv4_1_AN_joint_XX=31372;gnomADv4_1_AN_joint_XY=27384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22;gnomADv4_1_nhomalt_joint_XX=8;gnomADv4_1_nhomalt_joint_XY=14;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27728598 chr22_27728598_GAAA_G GAAA G 15 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=15;CADDIndel_PHREDscore=0.287;CADDIndel_Rawscore=-0.333109;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+15770_391+15772del|||||||rs772177827||-1||||||||||||Ensembl||AAA|AAA||||chr22:g.27728599_27728601del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=327;gnomADv4_1_AC_joint_XX=183;gnomADv4_1_AC_joint_XY=144;gnomADv4_1_AF_grpmax_joint=0.0243902;gnomADv4_1_AF_joint=0.00644386;gnomADv4_1_AF_joint_XX=0.00675028;gnomADv4_1_AF_joint_XY=0.0060924;gnomADv4_1_AN_grpmax_joint=1558;gnomADv4_1_AN_joint=50746;gnomADv4_1_AN_joint_XX=27110;gnomADv4_1_AN_joint_XY=23636;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17;gnomADv4_1_nhomalt_joint_XX=12;gnomADv4_1_nhomalt_joint_XY=5;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27728603 chr22_27728603_A_G A G 17 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=17;CADD_PHREDscore=0.923;CADD_Rawscore=-0.038611;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+15768T>C|||||||rs201243347||-1||||||||||||Ensembl||A|A||||chr22:g.27728603A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=9321;gnomADv4_1_AC_joint_XX=5004;gnomADv4_1_AC_joint_XY=4317;gnomADv4_1_AF_grpmax_joint=0.292039;gnomADv4_1_AF_joint=0.179575;gnomADv4_1_AF_joint_XX=0.180924;gnomADv4_1_AF_joint_XY=0.178035;gnomADv4_1_AN_grpmax_joint=2236;gnomADv4_1_AN_joint=51906;gnomADv4_1_AN_joint_XX=27658;gnomADv4_1_AN_joint_XY=24248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1275;gnomADv4_1_nhomalt_joint_XX=659;gnomADv4_1_nhomalt_joint_XY=616;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27729752 chr22_27729752_G_A G A 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.065;CADD_Rawscore=0.172352;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+14619C>T|||||||rs84512||-1||||||||||||Ensembl||G|G||||chr22:g.27729752G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=69292;gnomADv4_1_AC_joint_XX=35354;gnomADv4_1_AC_joint_XY=33938;gnomADv4_1_AF_grpmax_joint=0.700426;gnomADv4_1_AF_joint=0.455796;gnomADv4_1_AF_joint_XX=0.454878;gnomADv4_1_AF_joint_XY=0.456758;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152024;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17040;gnomADv4_1_nhomalt_joint_XX=8672;gnomADv4_1_nhomalt_joint_XY=8368;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27730783 chr22_27730783_G_C G C 59 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=2.309;CADD_Rawscore=0.202212;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+13588C>G|||||||rs126253||-1||||||||||||Ensembl||G|G||||chr22:g.27730783G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=69257;gnomADv4_1_AC_joint_XX=35375;gnomADv4_1_AC_joint_XY=33882;gnomADv4_1_AF_grpmax_joint=0.678058;gnomADv4_1_AF_joint=0.455662;gnomADv4_1_AF_joint_XX=0.455089;gnomADv4_1_AF_joint_XY=0.456262;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17010;gnomADv4_1_nhomalt_joint_XX=8681;gnomADv4_1_nhomalt_joint_XY=8329;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27730809 chr22_27730809_C_A C A 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=8.08;CADD_Rawscore=0.777631;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+13562G>T|||||||rs111801860||-1||||||||||||Ensembl||C|C||||chr22:g.27730809C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=3150;gnomADv4_1_AC_joint_XX=1653;gnomADv4_1_AC_joint_XY=1497;gnomADv4_1_AF_grpmax_joint=0.0816327;gnomADv4_1_AF_joint=0.0206859;gnomADv4_1_AF_joint_XX=0.0212386;gnomADv4_1_AF_joint_XY=0.020108;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152278;gnomADv4_1_AN_joint_XX=77830;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=64;gnomADv4_1_nhomalt_joint_XX=36;gnomADv4_1_nhomalt_joint_XY=28;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27731538 chr22_27731538_C_T C T 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.006;CADD_Rawscore=-1.41354;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+12833G>A|||||||rs4822933||-1||||||||||||Ensembl||C|C||||chr22:g.27731538C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=84240;gnomADv4_1_AC_joint_XX=42959;gnomADv4_1_AC_joint_XY=41281;gnomADv4_1_AF_grpmax_joint=0.752979;gnomADv4_1_AF_joint=0.554371;gnomADv4_1_AF_joint_XX=0.55294;gnomADv4_1_AF_joint_XY=0.555868;gnomADv4_1_AN_grpmax_joint=41450;gnomADv4_1_AN_joint=151956;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24818;gnomADv4_1_nhomalt_joint_XX=12644;gnomADv4_1_nhomalt_joint_XY=12174;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27731540 chr22_27731540_C_T C T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.195;CADD_Rawscore=-0.433224;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+12831G>A|||||||rs572771424||-1||||||||||||Ensembl||C|C||||chr22:g.27731540C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=14;gnomADv4_1_AC_joint_XX=7;gnomADv4_1_AC_joint_XY=7;gnomADv4_1_AF_grpmax_joint=0.000261609;gnomADv4_1_AF_joint=9.19601e-05;gnomADv4_1_AF_joint_XX=8.99835e-05;gnomADv4_1_AF_joint_XY=9.40254e-05;gnomADv4_1_AN_grpmax_joint=15290;gnomADv4_1_AN_joint=152240;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27732203 chr22_27732203_T_C T C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.04;CADD_Rawscore=-0.86239;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+12168A>G|||||||rs134130||-1||||||||||||Ensembl||T|T||||chr22:g.27732203T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=87826;gnomADv4_1_AC_joint_XX=44782;gnomADv4_1_AC_joint_XY=43044;gnomADv4_1_AF_grpmax_joint=0.781812;gnomADv4_1_AF_joint=0.577696;gnomADv4_1_AF_joint_XX=0.576152;gnomADv4_1_AF_joint_XY=0.579311;gnomADv4_1_AN_grpmax_joint=41478;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26855;gnomADv4_1_nhomalt_joint_XX=13676;gnomADv4_1_nhomalt_joint_XY=13179;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27732870 chr22_27732870_T_C T C 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.41;CADD_Rawscore=0.071942;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+11501A>G|||||||rs134131||-1||||||||||||Ensembl||T|T||||chr22:g.27732870T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=82347;gnomADv4_1_AC_joint_XX=41954;gnomADv4_1_AC_joint_XY=40393;gnomADv4_1_AF_grpmax_joint=0.763667;gnomADv4_1_AF_joint=0.54376;gnomADv4_1_AF_joint_XX=0.541566;gnomADv4_1_AF_joint_XY=0.546058;gnomADv4_1_AN_grpmax_joint=41340;gnomADv4_1_AN_joint=151440;gnomADv4_1_AN_joint_XX=77468;gnomADv4_1_AN_joint_XY=73972;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24118;gnomADv4_1_nhomalt_joint_XX=12284;gnomADv4_1_nhomalt_joint_XY=11834;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27733040 chr22_27733040_C_A C A 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.006;CADD_Rawscore=0.275008;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+11331G>T|||||||rs134132||-1||||||||||||Ensembl||C|C||||chr22:g.27733040C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=82432;gnomADv4_1_AC_joint_XX=42027;gnomADv4_1_AC_joint_XY=40405;gnomADv4_1_AF_grpmax_joint=0.762976;gnomADv4_1_AF_joint=0.542501;gnomADv4_1_AF_joint_XX=0.541027;gnomADv4_1_AF_joint_XY=0.544043;gnomADv4_1_AN_grpmax_joint=41460;gnomADv4_1_AN_joint=151948;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24106;gnomADv4_1_nhomalt_joint_XX=12304;gnomADv4_1_nhomalt_joint_XY=11802;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27733251 chr22_27733251_C_A C A 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.375;CADD_Rawscore=-0.265158;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+11120G>T|||||||rs134133||-1||||||||||||Ensembl||C|C||||chr22:g.27733251C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=82173;gnomADv4_1_AC_joint_XX=41908;gnomADv4_1_AC_joint_XY=40265;gnomADv4_1_AF_grpmax_joint=0.760268;gnomADv4_1_AF_joint=0.540384;gnomADv4_1_AF_joint_XX=0.539093;gnomADv4_1_AF_joint_XY=0.541735;gnomADv4_1_AN_grpmax_joint=41488;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23864;gnomADv4_1_nhomalt_joint_XX=12188;gnomADv4_1_nhomalt_joint_XY=11676;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27733788 chr22_27733788_T_C T C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.528;CADD_Rawscore=0.092938;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+10583A>G|||||||rs5762334||-1||||||||||||Ensembl||T|T||||chr22:g.27733788T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43685;gnomADv4_1_AC_joint_XX=22369;gnomADv4_1_AC_joint_XY=21316;gnomADv4_1_AF_grpmax_joint=0.492943;gnomADv4_1_AF_joint=0.287322;gnomADv4_1_AF_joint_XX=0.2878;gnomADv4_1_AF_joint_XY=0.286821;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6907;gnomADv4_1_nhomalt_joint_XX=3480;gnomADv4_1_nhomalt_joint_XY=3427;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27733840 chr22_27733840_G_GC G GC 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=2.596;CADDIndel_Rawscore=0.233958;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+10530dup|||||||rs66673039||-1||||||||||||Ensembl|||||||chr22:g.27733842dup|||||||||||||;TYPE=INDEL;VEP_Allele=C;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=32651;gnomADv4_1_AC_joint_XX=16545;gnomADv4_1_AC_joint_XY=16106;gnomADv4_1_AF_grpmax_joint=0.428794;gnomADv4_1_AF_joint=0.21466;gnomADv4_1_AF_joint_XX=0.212797;gnomADv4_1_AF_joint_XY=0.216607;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=152106;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3921;gnomADv4_1_nhomalt_joint_XX=1951;gnomADv4_1_nhomalt_joint_XY=1970;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27734056 chr22_27734056_G_T G T 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=4.716;CADD_Rawscore=0.429573;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+10315C>A|||||||rs11913308||-1||||||||||||Ensembl||G|G||||chr22:g.27734056G>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=30413;gnomADv4_1_AC_joint_XX=15404;gnomADv4_1_AC_joint_XY=15009;gnomADv4_1_AF_grpmax_joint=0.409744;gnomADv4_1_AF_joint=0.199841;gnomADv4_1_AF_joint_XX=0.19801;gnomADv4_1_AF_joint_XY=0.201756;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152186;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3523;gnomADv4_1_nhomalt_joint_XX=1741;gnomADv4_1_nhomalt_joint_XY=1782;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27734084 chr22_27734084_C_T C T 60 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=2.265;CADD_Rawscore=0.197088;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+10287G>A|||||||rs738353||-1||||||||||||Ensembl||C|C||||chr22:g.27734084C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=51587;gnomADv4_1_AC_joint_XX=26332;gnomADv4_1_AC_joint_XY=25255;gnomADv4_1_AF_grpmax_joint=0.54905;gnomADv4_1_AF_joint=0.339134;gnomADv4_1_AF_joint_XX=0.338632;gnomADv4_1_AF_joint_XY=0.339659;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9358;gnomADv4_1_nhomalt_joint_XX=4712;gnomADv4_1_nhomalt_joint_XY=4646;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27734142 chr22_27734142_T_C T C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.708;CADD_Rawscore=-0.105997;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+10229A>G|||||||rs7291248||-1||||||||||||Ensembl||T|T||||chr22:g.27734142T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=44201;gnomADv4_1_AC_joint_XX=22340;gnomADv4_1_AC_joint_XY=21861;gnomADv4_1_AF_grpmax_joint=0.444398;gnomADv4_1_AF_joint=0.290708;gnomADv4_1_AF_joint_XX=0.287457;gnomADv4_1_AF_joint_XY=0.294107;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6719;gnomADv4_1_nhomalt_joint_XX=3341;gnomADv4_1_nhomalt_joint_XY=3378;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27735000 chr22_27735000_T_G T G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.028;CADD_Rawscore=-0.957245;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+9371A>C|||||||rs2015186||-1||||||||||||Ensembl||T|T||||chr22:g.27735000T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=111011;gnomADv4_1_AC_joint_XX=56322;gnomADv4_1_AC_joint_XY=54689;gnomADv4_1_AF_grpmax_joint=0.892392;gnomADv4_1_AF_joint=0.734006;gnomADv4_1_AF_joint_XX=0.728427;gnomADv4_1_AF_joint_XY=0.73984;gnomADv4_1_AN_grpmax_joint=4758;gnomADv4_1_AN_joint=151240;gnomADv4_1_AN_joint_XX=77320;gnomADv4_1_AN_joint_XY=73920;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=40962;gnomADv4_1_nhomalt_joint_XX=20623;gnomADv4_1_nhomalt_joint_XY=20339;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27737442 chr22_27737442_T_C T C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.589;CADD_Rawscore=-0.1521;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+6929A>G|||||||rs79380149||-1||||||||||||Ensembl||T|T||||chr22:g.27737442T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=8496;gnomADv4_1_AC_joint_XX=4202;gnomADv4_1_AC_joint_XY=4294;gnomADv4_1_AF_grpmax_joint=0.0864428;gnomADv4_1_AF_joint=0.0557832;gnomADv4_1_AF_joint_XX=0.0539964;gnomADv4_1_AF_joint_XY=0.05765;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152304;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74484;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=273;gnomADv4_1_nhomalt_joint_XX=127;gnomADv4_1_nhomalt_joint_XY=146;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27737521 chr22_27737521_T_A T A 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.98;CADD_Rawscore=0.161204;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+6850A>T|||||||rs2079094||-1||||||||||||Ensembl||T|T||||chr22:g.27737521T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=48301;gnomADv4_1_AC_joint_XX=24265;gnomADv4_1_AC_joint_XY=24036;gnomADv4_1_AF_grpmax_joint=0.459992;gnomADv4_1_AF_joint=0.317481;gnomADv4_1_AF_joint_XX=0.312034;gnomADv4_1_AF_joint_XY=0.323177;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8425;gnomADv4_1_nhomalt_joint_XX=4152;gnomADv4_1_nhomalt_joint_XY=4273;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27738159 chr22_27738159_G_A G A 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=2.843;CADD_Rawscore=0.259149;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+6212C>T|||||||rs5762336||-1||||||||||||Ensembl||G|G||||chr22:g.27738159G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=45030;gnomADv4_1_AC_joint_XX=22749;gnomADv4_1_AC_joint_XY=22281;gnomADv4_1_AF_grpmax_joint=0.438128;gnomADv4_1_AF_joint=0.295989;gnomADv4_1_AF_joint_XX=0.292562;gnomADv4_1_AF_joint_XY=0.299572;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7323;gnomADv4_1_nhomalt_joint_XX=3668;gnomADv4_1_nhomalt_joint_XY=3655;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27738652 chr22_27738652_T_C T C 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.833;CADD_Rawscore=0.140911;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+5719A>G|||||||rs6005599||-1||||||||||||Ensembl||T|T||||chr22:g.27738652T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=11328;gnomADv4_1_AC_joint_XX=5915;gnomADv4_1_AC_joint_XY=5413;gnomADv4_1_AF_grpmax_joint=0.128762;gnomADv4_1_AF_joint=0.0744822;gnomADv4_1_AF_joint_XX=0.0761026;gnomADv4_1_AF_joint_XY=0.0727886;gnomADv4_1_AN_grpmax_joint=41472;gnomADv4_1_AN_joint=152090;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=523;gnomADv4_1_nhomalt_joint_XX=294;gnomADv4_1_nhomalt_joint_XY=229;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27738720 chr22_27738720_T_G T G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.199;CADD_Rawscore=0.189193;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+5651A>C|||||||rs5752625||-1||||||||||||Ensembl||T|T||||chr22:g.27738720T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=54321;gnomADv4_1_AC_joint_XX=27498;gnomADv4_1_AC_joint_XY=26823;gnomADv4_1_AF_grpmax_joint=0.533948;gnomADv4_1_AF_joint=0.359494;gnomADv4_1_AF_joint_XX=0.355639;gnomADv4_1_AF_joint_XY=0.363534;gnomADv4_1_AN_grpmax_joint=5096;gnomADv4_1_AN_joint=151104;gnomADv4_1_AN_joint_XX=77320;gnomADv4_1_AN_joint_XY=73784;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9922;gnomADv4_1_nhomalt_joint_XX=4955;gnomADv4_1_nhomalt_joint_XY=4967;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27739039 chr22_27739039_C_T C T 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.52;CADD_Rawscore=-0.183247;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+5332G>A|||||||rs5752626||-1||||||||||||Ensembl||C|C||||chr22:g.27739039C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26068;gnomADv4_1_AC_joint_XX=13226;gnomADv4_1_AC_joint_XY=12842;gnomADv4_1_AF_grpmax_joint=0.22927;gnomADv4_1_AF_joint=0.171563;gnomADv4_1_AF_joint_XX=0.170228;gnomADv4_1_AF_joint_XY=0.172961;gnomADv4_1_AN_grpmax_joint=67920;gnomADv4_1_AN_joint=151944;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2760;gnomADv4_1_nhomalt_joint_XX=1429;gnomADv4_1_nhomalt_joint_XY=1331;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27739045 chr22_27739045_A_T A T 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.177;CADD_Rawscore=0.024628;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+5326T>A|||||||rs5752627||-1||||||||||||Ensembl||A|A||||chr22:g.27739045A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=51440;gnomADv4_1_AC_joint_XX=26120;gnomADv4_1_AC_joint_XY=25320;gnomADv4_1_AF_grpmax_joint=0.509317;gnomADv4_1_AF_joint=0.338537;gnomADv4_1_AF_joint_XX=0.336156;gnomADv4_1_AF_joint_XY=0.341028;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151948;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74246;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8936;gnomADv4_1_nhomalt_joint_XX=4504;gnomADv4_1_nhomalt_joint_XY=4432;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27739238 chr22_27739238_G_C G C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.333;CADD_Rawscore=0.05713;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+5133C>G|||||||rs73164466||-1||||||||||||Ensembl||G|G||||chr22:g.27739238G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=6824;gnomADv4_1_AC_joint_XX=3312;gnomADv4_1_AC_joint_XY=3512;gnomADv4_1_AF_grpmax_joint=0.08531;gnomADv4_1_AF_joint=0.0448469;gnomADv4_1_AF_joint_XX=0.0425784;gnomADv4_1_AF_joint_XY=0.0472195;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=221;gnomADv4_1_nhomalt_joint_XX=100;gnomADv4_1_nhomalt_joint_XY=121;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27739309 chr22_27739309_G_A G A 61 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=61;CADD_PHREDscore=0.433;CADD_Rawscore=-0.229333;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+5062C>T|||||||rs5752628||-1||||||||||||Ensembl||G|G||||chr22:g.27739309G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=84867;gnomADv4_1_AC_joint_XX=43012;gnomADv4_1_AC_joint_XY=41855;gnomADv4_1_AF_grpmax_joint=0.685833;gnomADv4_1_AF_joint=0.558468;gnomADv4_1_AF_joint_XX=0.553608;gnomADv4_1_AF_joint_XY=0.563552;gnomADv4_1_AN_grpmax_joint=4800;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=23996;gnomADv4_1_nhomalt_joint_XX=12029;gnomADv4_1_nhomalt_joint_XY=11967;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27740122 chr22_27740122_T_G T G 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.016;CADD_Rawscore=-0.013587;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+4249A>C|||||||rs566926713||-1||||||||||||Ensembl||T|T||||chr22:g.27740122T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=177;gnomADv4_1_AC_joint_XX=93;gnomADv4_1_AC_joint_XY=84;gnomADv4_1_AF_grpmax_joint=0.00209908;gnomADv4_1_AF_joint=0.00116815;gnomADv4_1_AF_joint_XX=0.00120124;gnomADv4_1_AF_joint_XY=0.00113357;gnomADv4_1_AN_grpmax_joint=4764;gnomADv4_1_AN_joint=151522;gnomADv4_1_AN_joint_XX=77420;gnomADv4_1_AN_joint_XY=74102;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27740740 chr22_27740740_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.163;CADD_Rawscore=0.289899;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+3631A>G|||||||rs5752629||-1||||||||||||Ensembl||T|T||||chr22:g.27740740T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=87507;gnomADv4_1_AC_joint_XX=44374;gnomADv4_1_AC_joint_XY=43133;gnomADv4_1_AF_grpmax_joint=0.693026;gnomADv4_1_AF_joint=0.575613;gnomADv4_1_AF_joint_XX=0.570903;gnomADv4_1_AF_joint_XY=0.580541;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152024;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=25555;gnomADv4_1_nhomalt_joint_XX=12834;gnomADv4_1_nhomalt_joint_XY=12721;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27740745 chr22_27740745_G_A G A 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=4.687;CADD_Rawscore=0.426899;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+3626C>T|||||||rs115756092||-1||||||||||||Ensembl||G|G||||chr22:g.27740745G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=8259;gnomADv4_1_AC_joint_XX=4086;gnomADv4_1_AC_joint_XY=4173;gnomADv4_1_AF_grpmax_joint=0.0840928;gnomADv4_1_AF_joint=0.0542598;gnomADv4_1_AF_joint_XX=0.0525193;gnomADv4_1_AF_joint_XY=0.0560797;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152212;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=251;gnomADv4_1_nhomalt_joint_XX=118;gnomADv4_1_nhomalt_joint_XY=133;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27740757 chr22_27740757_T_C T C 49 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.66;CADD_Rawscore=-0.12384;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+3614A>G|||||||rs5752630||-1||||||||||||Ensembl||T|T||||chr22:g.27740757T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=152324;gnomADv4_1_AC_joint_XX=77846;gnomADv4_1_AC_joint_XY=74478;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152324;gnomADv4_1_AN_joint_XX=77846;gnomADv4_1_AN_joint_XY=74478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76162;gnomADv4_1_nhomalt_joint_XX=38923;gnomADv4_1_nhomalt_joint_XY=37239;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27740758 chr22_27740758_T_C T C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.094;CADD_Rawscore=-0.629248;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+3613A>G|||||||rs5752631||-1||||||||||||Ensembl||T|T||||chr22:g.27740758T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=152322;gnomADv4_1_AC_joint_XX=77848;gnomADv4_1_AC_joint_XY=74474;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152322;gnomADv4_1_AN_joint_XX=77848;gnomADv4_1_AN_joint_XY=74474;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76161;gnomADv4_1_nhomalt_joint_XX=38924;gnomADv4_1_nhomalt_joint_XY=37237;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27740783 chr22_27740783_G_A G A 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=2.124;CADD_Rawscore=0.17994;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+3588C>T|||||||rs6005601||-1||||||||||||Ensembl||G|G||||chr22:g.27740783G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=10076;gnomADv4_1_AC_joint_XX=5226;gnomADv4_1_AC_joint_XY=4850;gnomADv4_1_AF_grpmax_joint=0.122449;gnomADv4_1_AF_joint=0.0662154;gnomADv4_1_AF_joint_XX=0.0671964;gnomADv4_1_AF_joint_XY=0.0651899;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=376;gnomADv4_1_nhomalt_joint_XX=204;gnomADv4_1_nhomalt_joint_XY=172;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27740989 chr22_27740989_C_A C A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.336;CADD_Rawscore=-0.293398;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+3382G>T|||||||rs2079095||-1||||||||||||Ensembl||C|C||||chr22:g.27740989C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=55248;gnomADv4_1_AC_joint_XX=28148;gnomADv4_1_AC_joint_XY=27100;gnomADv4_1_AF_grpmax_joint=0.505809;gnomADv4_1_AF_joint=0.363392;gnomADv4_1_AF_joint_XX=0.362265;gnomADv4_1_AF_joint_XY=0.364571;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152034;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10229;gnomADv4_1_nhomalt_joint_XX=5185;gnomADv4_1_nhomalt_joint_XY=5044;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27741230 chr22_27741230_C_T C T 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.954;CADD_Rawscore=-0.029957;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+3141G>A|||||||rs77443565||-1||||||||||||Ensembl||C|C||||chr22:g.27741230C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=8651;gnomADv4_1_AC_joint_XX=4482;gnomADv4_1_AC_joint_XY=4169;gnomADv4_1_AF_grpmax_joint=0.122449;gnomADv4_1_AF_joint=0.0572709;gnomADv4_1_AF_joint_XX=0.0579714;gnomADv4_1_AF_joint_XY=0.0565365;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151054;gnomADv4_1_AN_joint_XX=77314;gnomADv4_1_AN_joint_XY=73740;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=269;gnomADv4_1_nhomalt_joint_XX=149;gnomADv4_1_nhomalt_joint_XY=120;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27741321 chr22_27741321_CAA_C CAA C 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=1.271;CADDIndel_Rawscore=0.044609;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+3048_391+3049del|||||||rs71315056||-1||||||||||||Ensembl||AA|AA||||chr22:g.27741332_27741333del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=39616;gnomADv4_1_AC_joint_XX=20100;gnomADv4_1_AC_joint_XY=19516;gnomADv4_1_AF_grpmax_joint=0.46318;gnomADv4_1_AF_joint=0.308147;gnomADv4_1_AF_joint_XX=0.303635;gnomADv4_1_AF_joint_XY=0.312937;gnomADv4_1_AN_grpmax_joint=4780;gnomADv4_1_AN_joint=128562;gnomADv4_1_AN_joint_XX=66198;gnomADv4_1_AN_joint_XY=62364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5543;gnomADv4_1_nhomalt_joint_XX=2780;gnomADv4_1_nhomalt_joint_XY=2763;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27741331 chr22_27741331_AAAC_A AAAC A 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.559;CADDIndel_Rawscore=-0.165428;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+3037_391+3039del|||||||rs372928580||-1||||||||||||Ensembl||AAC|AAC||||chr22:g.27741337_27741339del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=8713;gnomADv4_1_AC_joint_XX=4517;gnomADv4_1_AC_joint_XY=4196;gnomADv4_1_AF_grpmax_joint=0.118056;gnomADv4_1_AF_joint=0.0600292;gnomADv4_1_AF_joint_XX=0.0609384;gnomADv4_1_AF_joint_XY=0.0590803;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=145146;gnomADv4_1_AN_joint_XX=74124;gnomADv4_1_AN_joint_XY=71022;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=257;gnomADv4_1_nhomalt_joint_XX=139;gnomADv4_1_nhomalt_joint_XY=118;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27741443 chr22_27741443_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.18;CADD_Rawscore=-0.455186;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+2928A>G|||||||rs5762337||-1||||||||||||Ensembl||T|T||||chr22:g.27741443T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=55174;gnomADv4_1_AC_joint_XX=28143;gnomADv4_1_AC_joint_XY=27031;gnomADv4_1_AF_grpmax_joint=0.505789;gnomADv4_1_AF_joint=0.362648;gnomADv4_1_AF_joint_XX=0.361856;gnomADv4_1_AF_joint_XY=0.363476;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10191;gnomADv4_1_nhomalt_joint_XX=5174;gnomADv4_1_nhomalt_joint_XY=5017;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27742018 chr22_27742018_G_A G A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.172;CADD_Rawscore=-0.466235;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+2353C>T|||||||rs3091373||-1||||||||||||Ensembl||G|G||||chr22:g.27742018G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=86490;gnomADv4_1_AC_joint_XX=43794;gnomADv4_1_AC_joint_XY=42696;gnomADv4_1_AF_grpmax_joint=0.694699;gnomADv4_1_AF_joint=0.570063;gnomADv4_1_AF_joint_XX=0.564472;gnomADv4_1_AF_joint_XY=0.575915;gnomADv4_1_AN_grpmax_joint=4792;gnomADv4_1_AN_joint=151720;gnomADv4_1_AN_joint_XX=77584;gnomADv4_1_AN_joint_XY=74136;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=24866;gnomADv4_1_nhomalt_joint_XX=12410;gnomADv4_1_nhomalt_joint_XY=12456;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27742648 chr22_27742648_A_G A G 21 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=21;CADD_PHREDscore=0.859;CADD_Rawscore=-0.056973;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+1723T>C|||||||rs3888465||-1||||||||||||Ensembl||A|A||||chr22:g.27742648A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36852;gnomADv4_1_AC_joint_XX=18694;gnomADv4_1_AC_joint_XY=18158;gnomADv4_1_AF_grpmax_joint=0.325342;gnomADv4_1_AF_joint=0.24262;gnomADv4_1_AF_joint_XX=0.240654;gnomADv4_1_AF_joint_XY=0.244677;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151892;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74212;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5026;gnomADv4_1_nhomalt_joint_XX=2542;gnomADv4_1_nhomalt_joint_XY=2484;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27743025 chr22_27743025_T_C T C 51 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.518;CADD_Rawscore=-0.184474;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+1346A>G|||||||rs113612641||-1||||||||||||Ensembl||T|T||||chr22:g.27743025T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37493;gnomADv4_1_AC_joint_XX=18793;gnomADv4_1_AC_joint_XY=18700;gnomADv4_1_AF_grpmax_joint=0.458875;gnomADv4_1_AF_joint=0.247035;gnomADv4_1_AF_joint_XX=0.242184;gnomADv4_1_AF_joint_XY=0.25211;gnomADv4_1_AN_grpmax_joint=4766;gnomADv4_1_AN_joint=151772;gnomADv4_1_AN_joint_XX=77598;gnomADv4_1_AN_joint_XY=74174;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4921;gnomADv4_1_nhomalt_joint_XX=2387;gnomADv4_1_nhomalt_joint_XY=2534;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27743270 chr22_27743270_C_G C G 41 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.852;CADD_Rawscore=0.143542;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+1101G>C|||||||rs183631824||-1||||||||||||Ensembl||C|C||||chr22:g.27743270C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000733137;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295854;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43265;gnomADv4_1_AC_joint_XX=21641;gnomADv4_1_AC_joint_XY=21624;gnomADv4_1_AF_grpmax_joint=0.479342;gnomADv4_1_AF_joint=0.285555;gnomADv4_1_AF_joint_XX=0.279232;gnomADv4_1_AF_joint_XY=0.292177;gnomADv4_1_AN_grpmax_joint=4744;gnomADv4_1_AN_joint=151512;gnomADv4_1_AN_joint_XX=77502;gnomADv4_1_AN_joint_XY=74010;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6399;gnomADv4_1_nhomalt_joint_XX=3081;gnomADv4_1_nhomalt_joint_XY=3318;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27743767 chr22_27743767_T_G T G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=4.35;CADD_Rawscore=0.396418;CSQ=G|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||||||||||rs139636484|4510|-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27743767T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs139636484|4544|-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27743767T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+604A>C|||||||rs139636484||-1||||||||||||Ensembl||T|T||||chr22:g.27743767T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||||||||||rs139636484|4510|-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27743767T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000302326,ENST00000703102,ENST00000733137,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000295854,4330;VEP_SYMBOL=MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=12503;gnomADv4_1_AC_joint_XX=6232;gnomADv4_1_AC_joint_XY=6271;gnomADv4_1_AF_grpmax_joint=0.332881;gnomADv4_1_AF_joint=0.0821107;gnomADv4_1_AF_joint_XX=0.0800843;gnomADv4_1_AF_joint_XY=0.0842288;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152270;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=807;gnomADv4_1_nhomalt_joint_XX=383;gnomADv4_1_nhomalt_joint_XY=424;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27744224 chr22_27744224_G_A G A 17 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=17;CADD_PHREDscore=6.878;CADD_Rawscore=0.644865;CSQ=A|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||||||||||rs111554627|4053|-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27744224G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs111554627|4087|-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27744224G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||1/1|ENST00000733137.1:n.391+147C>T|||||||rs111554627||-1||||||||||||Ensembl||G|G||||chr22:g.27744224G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||||||||||rs111554627|4053|-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27744224G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000302326,ENST00000703102,ENST00000733137,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000295854,4330;VEP_SYMBOL=MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=36740;gnomADv4_1_AC_joint_XX=18836;gnomADv4_1_AC_joint_XY=17904;gnomADv4_1_AF_grpmax_joint=0.333333;gnomADv4_1_AF_joint=0.241641;gnomADv4_1_AF_joint_XX=0.242345;gnomADv4_1_AF_joint_XY=0.240904;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4570;gnomADv4_1_nhomalt_joint_XX=2383;gnomADv4_1_nhomalt_joint_XY=2187;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27744454 chr22_27744454_T_C T C 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=4.907;CADD_Rawscore=0.447152;CSQ=C|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||||||||||rs11090512|3823|-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27744454T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs11090512|3857|-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27744454T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA|1/2||ENST00000733137.1:n.308A>G||308|||||rs11090512||-1||||||||||||Ensembl||T|T||||chr22:g.27744454T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||||||||||rs11090512|3823|-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27744454T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000302326,ENST00000703102,ENST00000733137,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000295854,4330;VEP_SYMBOL=MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=39956;gnomADv4_1_AC_joint_XX=20521;gnomADv4_1_AC_joint_XY=19435;gnomADv4_1_AF_grpmax_joint=0.35034;gnomADv4_1_AF_joint=0.262886;gnomADv4_1_AF_joint_XX=0.264174;gnomADv4_1_AF_joint_XY=0.261539;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5420;gnomADv4_1_nhomalt_joint_XX=2805;gnomADv4_1_nhomalt_joint_XY=2615;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27744502 chr22_27744502_G_T G T 19 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=19;CADD_PHREDscore=2.87;CADD_Rawscore=0.26181;CSQ=T|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||||||||||rs11090513|3775|-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27744502G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs11090513|3809|-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27744502G>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA|1/2||ENST00000733137.1:n.260C>A||260|||||rs11090513||-1||||||||||||Ensembl||G|G||||chr22:g.27744502G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||||||||||rs11090513|3775|-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27744502G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000302326,ENST00000703102,ENST00000733137,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000295854,4330;VEP_SYMBOL=MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=39373;gnomADv4_1_AC_joint_XX=20170;gnomADv4_1_AC_joint_XY=19203;gnomADv4_1_AF_grpmax_joint=0.336735;gnomADv4_1_AF_joint=0.259125;gnomADv4_1_AF_joint_XX=0.259635;gnomADv4_1_AF_joint_XY=0.258591;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151946;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5322;gnomADv4_1_nhomalt_joint_XX=2755;gnomADv4_1_nhomalt_joint_XY=2567;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27744929 chr22_27744929_C_T C T 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=11;CADD_PHREDscore=4.797;CADD_Rawscore=0.437039;CSQ=T|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||||||||||rs11912549|3348|-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27744929C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs11912549|3382|-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27744929C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs11912549|168|-1||||||||||||Ensembl||C|C||||chr22:g.27744929C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||||||||||rs11912549|3348|-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27744929C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000302326,ENST00000703102,ENST00000733137,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000295854,4330;VEP_SYMBOL=MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=2156;gnomADv4_1_AC_joint_XX=1175;gnomADv4_1_AC_joint_XY=981;gnomADv4_1_AF_grpmax_joint=0.0369783;gnomADv4_1_AF_joint=0.0229772;gnomADv4_1_AF_joint_XX=0.0243604;gnomADv4_1_AF_joint_XY=0.0215141;gnomADv4_1_AN_grpmax_joint=22716;gnomADv4_1_AN_joint=93832;gnomADv4_1_AN_joint_XX=48234;gnomADv4_1_AN_joint_XY=45598;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=56;gnomADv4_1_nhomalt_joint_XX=37;gnomADv4_1_nhomalt_joint_XY=19;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27744978 chr22_27744978_A_G A G 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=19;CADD_PHREDscore=4.387;CADD_Rawscore=0.399698;CSQ=G|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||||||||||rs35900557|3299|-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||A|A||1||chr22:g.27744978A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs35900557|3333|-1||HGNC|HGNC:7180|||||||||Ensembl||A|A||1||chr22:g.27744978A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs35900557|217|-1||||||||||||Ensembl||A|A||||chr22:g.27744978A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||||||||||rs35900557|3299|-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||A|A||||chr22:g.27744978A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000302326,ENST00000703102,ENST00000733137,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000295854,4330;VEP_SYMBOL=MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=10640;gnomADv4_1_AC_joint_XX=5711;gnomADv4_1_AC_joint_XY=4929;gnomADv4_1_AF_grpmax_joint=0.203297;gnomADv4_1_AF_joint=0.113259;gnomADv4_1_AF_joint_XX=0.116851;gnomADv4_1_AF_joint_XY=0.109363;gnomADv4_1_AN_grpmax_joint=182;gnomADv4_1_AN_joint=93944;gnomADv4_1_AN_joint_XX=48874;gnomADv4_1_AN_joint_XY=45070;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1345;gnomADv4_1_nhomalt_joint_XX=738;gnomADv4_1_nhomalt_joint_XY=607;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27745114 chr22_27745114_T_C T C 43 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=5.197;CADD_Rawscore=0.474382;CSQ=C|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||||||||||rs12628364|3163|-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27745114T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||||||||||rs12628364|4950|-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27745114T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs12628364|3197|-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27745114T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs12628364|353|-1||||||||||||Ensembl||T|T||||chr22:g.27745114T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||||||||||rs12628364|3163|-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27745114T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000703102,ENST00000733137,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000295854,4330;VEP_SYMBOL=MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=39030;gnomADv4_1_AC_joint_XX=20219;gnomADv4_1_AC_joint_XY=18811;gnomADv4_1_AF_grpmax_joint=0.341379;gnomADv4_1_AF_joint=0.264012;gnomADv4_1_AF_joint_XX=0.266278;gnomADv4_1_AF_joint_XY=0.26162;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=147834;gnomADv4_1_AN_joint_XX=75932;gnomADv4_1_AN_joint_XY=71902;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5369;gnomADv4_1_nhomalt_joint_XX=2820;gnomADv4_1_nhomalt_joint_XY=2549;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27745123 chr22_27745123_C_CA C CA 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=37;CADDIndel_PHREDscore=1.74;CADDIndel_Rawscore=0.127206;CSQ=A|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||||||||||rs71194733|3153|-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl|||||1||chr22:g.27745137dup|||||||||||||,A|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||||||||||rs71194733|4940|-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl|||||1||chr22:g.27745137dup|||||||||||||,A|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs71194733|3187|-1||HGNC|HGNC:7180|||||||||Ensembl|||||1||chr22:g.27745137dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs71194733|362|-1||||||||||||Ensembl|||||||chr22:g.27745137dup|||||||||||||,A|downstream_gene_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||||||||||rs71194733|3153|-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq|||||||chr22:g.27745137dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000703102,ENST00000733137,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000295854,4330;VEP_SYMBOL=MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=33654;gnomADv4_1_AC_joint_XX=17584;gnomADv4_1_AC_joint_XY=16070;gnomADv4_1_AF_grpmax_joint=0.452885;gnomADv4_1_AF_joint=0.253743;gnomADv4_1_AF_joint_XX=0.255552;gnomADv4_1_AF_joint_XY=0.251794;gnomADv4_1_AN_grpmax_joint=36782;gnomADv4_1_AN_joint=132630;gnomADv4_1_AN_joint_XX=68808;gnomADv4_1_AN_joint_XY=63822;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4953;gnomADv4_1_nhomalt_joint_XX=2625;gnomADv4_1_nhomalt_joint_XY=2328;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27745313 chr22_27745313_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.268;CADD_Rawscore=-0.351045;CSQ=G|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||||||||||rs6005605|2964|-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||A|A||1||chr22:g.27745313A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||||||||||rs6005605|4751|-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||A|A||1||chr22:g.27745313A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs6005605|2998|-1||HGNC|HGNC:7180|||||||||Ensembl||A|A||1||chr22:g.27745313A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs6005605|552|-1||||||||||||Ensembl||A|A||||chr22:g.27745313A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||||||||||rs6005605|2964|-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||A|A||||chr22:g.27745313A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000703102,ENST00000733137,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000295854,4330;VEP_SYMBOL=MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=40165;gnomADv4_1_AC_joint_XX=20582;gnomADv4_1_AC_joint_XY=19583;gnomADv4_1_AF_grpmax_joint=0.356164;gnomADv4_1_AF_joint=0.264456;gnomADv4_1_AF_joint_XX=0.265027;gnomADv4_1_AF_joint_XY=0.263858;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151878;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=74218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5494;gnomADv4_1_nhomalt_joint_XX=2850;gnomADv4_1_nhomalt_joint_XY=2644;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27745980 chr22_27745980_A_G A G 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=12.3;CADD_Rawscore=1.21401;CSQ=G|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||||||||||rs5762338|2297|-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||A|A||1||chr22:g.27745980A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||||||||||rs5762338|4084|-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||A|A||1||chr22:g.27745980A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||||||||||rs5762338|4698|-1||HGNC|HGNC:7180|1||||||||Ensembl||A|A||1||chr22:g.27745980A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs5762338|2331|-1||HGNC|HGNC:7180|||||||||Ensembl||A|A||1||chr22:g.27745980A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs5762338|1219|-1||||||||||||Ensembl||A|A||||chr22:g.27745980A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||||||||||rs5762338|2297|-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||A|A||||chr22:g.27745980A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000733137,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000295854,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=13167;gnomADv4_1_AC_joint_XX=6509;gnomADv4_1_AC_joint_XY=6658;gnomADv4_1_AF_grpmax_joint=0.285714;gnomADv4_1_AF_joint=0.0865089;gnomADv4_1_AF_joint_XX=0.0836632;gnomADv4_1_AF_joint_XY=0.0894844;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152204;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=820;gnomADv4_1_nhomalt_joint_XX=377;gnomADv4_1_nhomalt_joint_XY=443;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27747056 chr22_27747056_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=4.765;CADD_Rawscore=0.434024;CSQ=T|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||||||||||rs45468794|1221|-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27747056C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||||||||||rs45468794|3008|-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27747056C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||||||||||rs45468794|3622|-1||HGNC|HGNC:7180|1||||||||Ensembl||C|C||1||chr22:g.27747056C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs45468794|1255|-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27747056C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs45468794|2295|-1||||||||||||Ensembl||C|C||||chr22:g.27747056C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||||||||||rs45468794|1221|-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27747056C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000733137,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000295854,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=8273;gnomADv4_1_AC_joint_XX=4150;gnomADv4_1_AC_joint_XY=4123;gnomADv4_1_AF_grpmax_joint=0.06621;gnomADv4_1_AF_joint=0.0543325;gnomADv4_1_AF_joint_XX=0.0533241;gnomADv4_1_AF_joint_XY=0.0553869;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152266;gnomADv4_1_AN_joint_XX=77826;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=264;gnomADv4_1_nhomalt_joint_XX=122;gnomADv4_1_nhomalt_joint_XY=142;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27747955 chr22_27747955_G_GT;chr22_27747955_G_GTT G GT 33 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=33;CADDIndel_PHREDscore=0.211;CADDIndel_Rawscore=-0.413153;CSQ=T|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||||||||||rs36097651|321|-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl|||||1||chr22:g.27747976dup|||||||||||||,T|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||||||||||rs36097651|2108|-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl|||||1||chr22:g.27747976dup|||||||||||||,T|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||||||||||rs36097651|2722|-1||HGNC|HGNC:7180|1||||||||Ensembl|||||1||chr22:g.27747976dup|||||||||||||,T|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs36097651|355|-1||HGNC|HGNC:7180|||||||||Ensembl|||||1||chr22:g.27747976dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs36097651|3194|-1||||||||||||Ensembl|||||||chr22:g.27747976dup|||||||||||||,T|downstream_gene_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||||||||||rs36097651|321|-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq|||||||chr22:g.27747976dup|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4QC9|enhancer||||||||||rs36097651|||||||||||||||||||||chr22:g.27747976dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000733137,NM_002430.3,ENSR22_C4QC9;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000295854,4330,.;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10635;gnomADv4_1_AC_joint_XX=5690;gnomADv4_1_AC_joint_XY=4945;gnomADv4_1_AF_grpmax_joint=0.268456;gnomADv4_1_AF_joint=0.0975366;gnomADv4_1_AF_joint_XX=0.097602;gnomADv4_1_AF_joint_XY=0.0974615;gnomADv4_1_AN_grpmax_joint=3576;gnomADv4_1_AN_joint=109036;gnomADv4_1_AN_joint_XX=58298;gnomADv4_1_AN_joint_XY=50738;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=736;gnomADv4_1_nhomalt_joint_XX=381;gnomADv4_1_nhomalt_joint_XY=355;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27747955 chr22_27747955_G_GT;chr22_27747955_G_GTT G GTT 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=24;CADDIndel_PHREDscore=0.203;CADDIndel_Rawscore=-0.423623;CSQ=TT|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||||||||||rs36097651|321|-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl|||||1||chr22:g.27747975_27747976dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||||||||||rs36097651|2108|-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl|||||1||chr22:g.27747975_27747976dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||||||||||rs36097651|2722|-1||HGNC|HGNC:7180|1||||||||Ensembl|||||1||chr22:g.27747975_27747976dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs36097651|355|-1||HGNC|HGNC:7180|||||||||Ensembl|||||1||chr22:g.27747975_27747976dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs36097651|3194|-1||||||||||||Ensembl|||||||chr22:g.27747975_27747976dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||||||||||rs36097651|321|-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq|||||||chr22:g.27747975_27747976dup|||||||||||||,TT|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4QC9|enhancer||||||||||rs36097651|||||||||||||||||||||chr22:g.27747975_27747976dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000733137,NM_002430.3,ENSR22_C4QC9;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000295854,4330,.;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13492;gnomADv4_1_AC_joint_XX=7432;gnomADv4_1_AC_joint_XY=6060;gnomADv4_1_AF_grpmax_joint=0.266667;gnomADv4_1_AF_joint=0.123882;gnomADv4_1_AF_joint_XX=0.127671;gnomADv4_1_AF_joint_XY=0.119531;gnomADv4_1_AN_grpmax_joint=150;gnomADv4_1_AN_joint=108910;gnomADv4_1_AN_joint_XX=58212;gnomADv4_1_AN_joint_XY=50698;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1019;gnomADv4_1_nhomalt_joint_XX=588;gnomADv4_1_nhomalt_joint_XY=431;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27748237 chr22_27748237_G_GA G GA 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.436;CADDIndel_Rawscore=-0.227609;CSQ=A|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||||||||||rs45527237|39|-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl|||||1||chr22:g.27748240dup|||||||||||||,A|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||||||||||rs45527237|1826|-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl|||||1||chr22:g.27748240dup|||||||||||||,A|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||||||||||rs45527237|2440|-1||HGNC|HGNC:7180|1||||||||Ensembl|||||1||chr22:g.27748240dup|||||||||||||,A|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs45527237|73|-1||HGNC|HGNC:7180|||||||||Ensembl|||||1||chr22:g.27748240dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs45527237|3476|-1||||||||||||Ensembl|||||||chr22:g.27748240dup|||||||||||||,A|downstream_gene_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||||||||||rs45527237|39|-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq|||||||chr22:g.27748240dup|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4QC9|enhancer||||||||||rs45527237|||||||||||||||||||||chr22:g.27748240dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000733137,NM_002430.3,ENSR22_C4QC9;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000295854,4330,.;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23413;gnomADv4_1_AC_joint_XX=11987;gnomADv4_1_AC_joint_XY=11426;gnomADv4_1_AF_grpmax_joint=0.343085;gnomADv4_1_AF_joint=0.142017;gnomADv4_1_AF_joint_XX=0.141643;gnomADv4_1_AF_joint_XY=0.142412;gnomADv4_1_AN_grpmax_joint=376;gnomADv4_1_AN_joint=164860;gnomADv4_1_AN_joint_XX=84628;gnomADv4_1_AN_joint_XY=80232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1946;gnomADv4_1_nhomalt_joint_XX=1016;gnomADv4_1_nhomalt_joint_XY=930;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27749226 chr22_27749226_G_A G A 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=11.51;CADD_Rawscore=1.1156;CSQ=A|3_prime_UTR_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding|2/2||ENST00000302326.5:c.*1689C>T||6865|||||rs45619034||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27749226G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||||||||||rs45619034|838|-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27749226G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||||||||||rs45619034|1452|-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27749226G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined|2/2||ENST00000703102.1:n.2177C>T||2177|||||rs45619034||-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27749226G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295854|Transcript|ENST00000733137|lncRNA||||||||||rs45619034|4465|-1||||||||||||Ensembl||G|G||||chr22:g.27749226G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding|2/2||NM_002430.3:c.*1689C>T||6865|||||rs45619034||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27749226G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4QC9|enhancer||||||||||rs45619034|||||||||||||||||||||chr22:g.27749226G>A|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|MN1|0.00|0.00|0.00|0.00|-17|10|2|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000733137,NM_002430.3,ENSR22_C4QC9;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000295854,4330,.;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13544;gnomADv4_1_AC_joint_XX=7163;gnomADv4_1_AC_joint_XY=6381;gnomADv4_1_AF_grpmax_joint=0.114494;gnomADv4_1_AF_joint=0.0588133;gnomADv4_1_AF_joint_XX=0.0597415;gnomADv4_1_AF_joint_XY=0.0578052;gnomADv4_1_AN_grpmax_joint=45234;gnomADv4_1_AN_joint=230288;gnomADv4_1_AN_joint_XX=119900;gnomADv4_1_AN_joint_XY=110388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=504;gnomADv4_1_nhomalt_joint_XX=284;gnomADv4_1_nhomalt_joint_XY=220;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27750780 chr22_27750780_A_AG A AG 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=5.986;CADDIndel_Rawscore=0.551805;CSQ=G|3_prime_UTR_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding|2/2||ENST00000302326.5:c.*134dup||5310-5311|||||rs11379447||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl|||||1||chr22:g.27750781dup|benign||1||||||||||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay|2/3||ENST00000424656.1:c.*134dup||450-451|||||rs11379447||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl|||||1||chr22:g.27750781dup|benign||1||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined|2/2||ENST00000497225.1:n.453dup||453-454|||||rs11379447||-1||HGNC|HGNC:7180|1||||||||Ensembl|||||1||chr22:g.27750781dup|benign||1||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined|2/2||ENST00000703102.1:n.622dup||622-623|||||rs11379447||-1||HGNC|HGNC:7180|||||||||Ensembl|||||1||chr22:g.27750781dup|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding|2/2||NM_002430.3:c.*134dup||5310-5311|||||rs11379447||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq|||||||chr22:g.27750781dup|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.27750781dup;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=MN1:4330;ClinVar_Variation_ID=1265884;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=AG|MN1|0.00|0.00|0.00|0.00|-5|11|-4|19;TYPE=INDEL;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=244035;gnomADv4_1_AC_joint_XX=122226;gnomADv4_1_AC_joint_XY=121809;gnomADv4_1_AF_grpmax_joint=0.489695;gnomADv4_1_AF_joint=0.368155;gnomADv4_1_AF_joint_XX=0.37014;gnomADv4_1_AF_joint_XY=0.366184;gnomADv4_1_AN_grpmax_joint=51334;gnomADv4_1_AN_joint=662860;gnomADv4_1_AN_joint_XX=330216;gnomADv4_1_AN_joint_XY=332644;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31347;gnomADv4_1_nhomalt_joint_XX=15961;gnomADv4_1_nhomalt_joint_XY=15386;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27752825 chr22_27752825_G_A G A 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=6.537;CADD_Rawscore=0.608626;CSQ=A|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-1729C>T|||||||rs2189132||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27752825G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-1729C>T|||||||rs2189132||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27752825G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-1729C>T|||||||rs2189132||-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27752825G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-1729C>T|||||||rs2189132||-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27752825G>A|||||||||||||,A|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-1729C>T|||||||rs2189132||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27752825G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F2FD|enhancer||||||||||rs2189132|||||||||||||||||||||chr22:g.27752825G>A|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|MN1|0.00|0.00|0.00|0.00|-49|6|21|6;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3,ENSR22_9F2FD;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330,.;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=43610;gnomADv4_1_AC_joint_XX=22424;gnomADv4_1_AC_joint_XY=21186;gnomADv4_1_AF_grpmax_joint=0.356164;gnomADv4_1_AF_joint=0.286742;gnomADv4_1_AF_joint_XX=0.288464;gnomADv4_1_AF_joint_XY=0.284942;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6475;gnomADv4_1_nhomalt_joint_XX=3310;gnomADv4_1_nhomalt_joint_XY=3165;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27753172 chr22_27753172_A_C A C 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.797;CADD_Rawscore=-0.076046;CSQ=C|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-2076T>G|||||||rs5762341||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||A|A||1||chr22:g.27753172A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-2076T>G|||||||rs5762341||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||A|A||1||chr22:g.27753172A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-2076T>G|||||||rs5762341||-1||HGNC|HGNC:7180|1||||||||Ensembl||A|A||1||chr22:g.27753172A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-2076T>G|||||||rs5762341||-1||HGNC|HGNC:7180|||||||||Ensembl||A|A||1||chr22:g.27753172A>C|||||||||||||,C|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-2076T>G|||||||rs5762341||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||A|A||||chr22:g.27753172A>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F2FD|enhancer||||||||||rs5762341|||||||||||||||||||||chr22:g.27753172A>C|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|MN1|0.00|0.00|0.00|0.00|44|-6|0|44;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3,ENSR22_9F2FD;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330,.;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=62296;gnomADv4_1_AC_joint_XX=31722;gnomADv4_1_AC_joint_XY=30574;gnomADv4_1_AF_grpmax_joint=0.591825;gnomADv4_1_AF_joint=0.409697;gnomADv4_1_AF_joint_XX=0.408;gnomADv4_1_AF_joint_XY=0.411472;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152054;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12900;gnomADv4_1_nhomalt_joint_XX=6500;gnomADv4_1_nhomalt_joint_XY=6400;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27754121 chr22_27754121_A_G A G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.457;CADD_Rawscore=-0.215781;CSQ=G|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-3025T>C|||||||rs4822935||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||A|A||1||chr22:g.27754121A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-3025T>C|||||||rs4822935||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||A|A||1||chr22:g.27754121A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-3025T>C|||||||rs4822935||-1||HGNC|HGNC:7180|1||||||||Ensembl||A|A||1||chr22:g.27754121A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-3025T>C|||||||rs4822935||-1||HGNC|HGNC:7180|||||||||Ensembl||A|A||1||chr22:g.27754121A>G|||||||||||||,G|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-3025T>C|||||||rs4822935||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||A|A||||chr22:g.27754121A>G|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|-7|-13|4|38;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=114573;gnomADv4_1_AC_joint_XX=58400;gnomADv4_1_AC_joint_XY=56173;gnomADv4_1_AF_grpmax_joint=0.869283;gnomADv4_1_AF_joint=0.753284;gnomADv4_1_AF_joint_XX=0.750971;gnomADv4_1_AF_joint_XY=0.755704;gnomADv4_1_AN_grpmax_joint=41502;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=43690;gnomADv4_1_nhomalt_joint_XX=22229;gnomADv4_1_nhomalt_joint_XY=21461;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27755132 chr22_27755132_C_G C G 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.268;CADD_Rawscore=-0.350858;CSQ=G|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-4036G>C|||||||rs2283845||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27755132C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-4036G>C|||||||rs2283845||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27755132C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-4036G>C|||||||rs2283845||-1||HGNC|HGNC:7180|1||||||||Ensembl||C|C||1||chr22:g.27755132C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-4036G>C|||||||rs2283845||-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27755132C>G|||||||||||||,G|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-4036G>C|||||||rs2283845||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27755132C>G|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|-3|18|-41|-26;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=30074;gnomADv4_1_AC_joint_XX=14943;gnomADv4_1_AC_joint_XY=15131;gnomADv4_1_AF_grpmax_joint=0.343301;gnomADv4_1_AF_joint=0.197684;gnomADv4_1_AF_joint_XX=0.192134;gnomADv4_1_AF_joint_XY=0.203489;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152132;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3288;gnomADv4_1_nhomalt_joint_XX=1599;gnomADv4_1_nhomalt_joint_XY=1689;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27755685 chr22_27755685_A_G A G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.057;CADD_Rawscore=-0.766258;CSQ=G|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-4589T>C|||||||rs4820776||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||A|A||1||chr22:g.27755685A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-4589T>C|||||||rs4820776||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||A|A||1||chr22:g.27755685A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-4589T>C|||||||rs4820776||-1||HGNC|HGNC:7180|1||||||||Ensembl||A|A||1||chr22:g.27755685A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-4589T>C|||||||rs4820776||-1||HGNC|HGNC:7180|||||||||Ensembl||A|A||1||chr22:g.27755685A>G|||||||||||||,G|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-4589T>C|||||||rs4820776||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||A|A||||chr22:g.27755685A>G|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|34|-33|-16|31;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=110994;gnomADv4_1_AC_joint_XX=56567;gnomADv4_1_AC_joint_XY=54427;gnomADv4_1_AF_grpmax_joint=0.86932;gnomADv4_1_AF_joint=0.729868;gnomADv4_1_AF_joint_XX=0.727569;gnomADv4_1_AF_joint_XY=0.732274;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41155;gnomADv4_1_nhomalt_joint_XX=20918;gnomADv4_1_nhomalt_joint_XY=20237;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27755837 chr22_27755837_G_A G A 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.462;CADD_Rawscore=-0.213008;CSQ=A|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-4741C>T|||||||rs2267106||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27755837G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-4741C>T|||||||rs2267106||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27755837G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-4741C>T|||||||rs2267106||-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27755837G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-4741C>T|||||||rs2267106||-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27755837G>A|||||||||||||,A|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-4741C>T|||||||rs2267106||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27755837G>A|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|MN1|0.00|0.00|0.03|0.00|-19|20|20|10;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=32930;gnomADv4_1_AC_joint_XX=17069;gnomADv4_1_AC_joint_XY=15861;gnomADv4_1_AF_grpmax_joint=0.292517;gnomADv4_1_AF_joint=0.2164;gnomADv4_1_AF_joint_XX=0.219435;gnomADv4_1_AF_joint_XY=0.213226;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152172;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3998;gnomADv4_1_nhomalt_joint_XX=2088;gnomADv4_1_nhomalt_joint_XY=1910;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27756043 chr22_27756043_C_T C T 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=2.169;CADD_Rawscore=0.185463;CSQ=T|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-4947G>A|||||||rs568470036||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27756043C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-4947G>A|||||||rs568470036||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27756043C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-4947G>A|||||||rs568470036||-1||HGNC|HGNC:7180|1||||||||Ensembl||C|C||1||chr22:g.27756043C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-4947G>A|||||||rs568470036||-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27756043C>T|||||||||||||,T|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-4947G>A|||||||rs568470036||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27756043C>T|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|MN1|0.00|0.00|0.00|0.00|-2|17|-6|31;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=86;gnomADv4_1_AC_joint_XX=46;gnomADv4_1_AC_joint_XY=40;gnomADv4_1_AF_grpmax_joint=0.000984889;gnomADv4_1_AF_joint=0.00056463;gnomADv4_1_AF_joint_XX=0.000590895;gnomADv4_1_AF_joint_XY=0.000537172;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152312;gnomADv4_1_AN_joint_XX=77848;gnomADv4_1_AN_joint_XY=74464;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27756651 chr22_27756651_A_G A G 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.76;CADD_Rawscore=-0.087985;CSQ=G|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-5555T>C|||||||rs2106150||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||A|A||1||chr22:g.27756651A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-5555T>C|||||||rs2106150||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||A|A||1||chr22:g.27756651A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-5555T>C|||||||rs2106150||-1||HGNC|HGNC:7180|1||||||||Ensembl||A|A||1||chr22:g.27756651A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-5555T>C|||||||rs2106150||-1||HGNC|HGNC:7180|||||||||Ensembl||A|A||1||chr22:g.27756651A>G|||||||||||||,G|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-5555T>C|||||||rs2106150||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||A|A||||chr22:g.27756651A>G|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.01|0.00|50|-42|-13|2;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=33209;gnomADv4_1_AC_joint_XX=17223;gnomADv4_1_AC_joint_XY=15986;gnomADv4_1_AF_grpmax_joint=0.29932;gnomADv4_1_AF_joint=0.218239;gnomADv4_1_AF_joint_XX=0.221449;gnomADv4_1_AF_joint_XY=0.214883;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152168;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4163;gnomADv4_1_nhomalt_joint_XX=2187;gnomADv4_1_nhomalt_joint_XY=1976;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27757868 chr22_27757868_A_C A C 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.13;CADD_Rawscore=-0.540335;CSQ=C|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-6772T>G|||||||rs9613525||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||A|A||1||chr22:g.27757868A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-6772T>G|||||||rs9613525||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||A|A||1||chr22:g.27757868A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-6772T>G|||||||rs9613525||-1||HGNC|HGNC:7180|1||||||||Ensembl||A|A||1||chr22:g.27757868A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-6772T>G|||||||rs9613525||-1||HGNC|HGNC:7180|||||||||Ensembl||A|A||1||chr22:g.27757868A>C|||||||||||||,C|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-6772T>G|||||||rs9613525||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||A|A||||chr22:g.27757868A>C|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|MN1|0.00|0.00|0.00|0.00|31|-31|-33|-30;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=109808;gnomADv4_1_AC_joint_XX=56021;gnomADv4_1_AC_joint_XY=53787;gnomADv4_1_AF_grpmax_joint=0.888605;gnomADv4_1_AF_joint=0.723382;gnomADv4_1_AF_joint_XX=0.721028;gnomADv4_1_AF_joint_XY=0.725851;gnomADv4_1_AN_grpmax_joint=5090;gnomADv4_1_AN_joint=151798;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74102;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=40347;gnomADv4_1_nhomalt_joint_XX=20506;gnomADv4_1_nhomalt_joint_XY=19841;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27758630 chr22_27758630_G_T G T 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.089;CADD_Rawscore=-0.643414;CSQ=T|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-7534C>A|||||||rs2267110||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27758630G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-7534C>A|||||||rs2267110||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27758630G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-7534C>A|||||||rs2267110||-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27758630G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-7534C>A|||||||rs2267110||-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27758630G>T|||||||||||||,T|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-7534C>A|||||||rs2267110||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27758630G>T|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|MN1|0.00|0.00|0.00|0.00|-5|50|-5|-28;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=102971;gnomADv4_1_AC_joint_XX=52363;gnomADv4_1_AC_joint_XY=50608;gnomADv4_1_AF_grpmax_joint=0.85445;gnomADv4_1_AF_joint=0.677378;gnomADv4_1_AF_joint_XX=0.673739;gnomADv4_1_AF_joint_XY=0.681186;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=35275;gnomADv4_1_nhomalt_joint_XX=17832;gnomADv4_1_nhomalt_joint_XY=17443;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27759344 chr22_27759344_CAA_C CAA C 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.857;CADDIndel_Rawscore=-0.057552;CSQ=-|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-8250_3782-8249del|||||||rs10598698||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||AA|AA||1||chr22:g.27759346_27759347del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-8250_135-8249del|||||||rs10598698||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||AA|AA||1||chr22:g.27759346_27759347del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-8250_138-8249del|||||||rs10598698||-1||HGNC|HGNC:7180|1||||||||Ensembl||AA|AA||1||chr22:g.27759346_27759347del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-8250_307-8249del|||||||rs10598698||-1||HGNC|HGNC:7180|||||||||Ensembl||AA|AA||1||chr22:g.27759346_27759347del|||||||||||||,-|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-8250_3782-8249del|||||||rs10598698||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||AA|AA||||chr22:g.27759346_27759347del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|MN1|0.00|0.00|0.00|0.00|7|-32|7|3;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=10133;gnomADv4_1_AC_joint_XX=5013;gnomADv4_1_AC_joint_XY=5120;gnomADv4_1_AF_grpmax_joint=0.130137;gnomADv4_1_AF_joint=0.0665594;gnomADv4_1_AF_joint_XX=0.0644295;gnomADv4_1_AF_joint_XY=0.0687858;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152240;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=493;gnomADv4_1_nhomalt_joint_XX=260;gnomADv4_1_nhomalt_joint_XY=233;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27759975 chr22_27759975_TG_T TG T 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.253;CADDIndel_Rawscore=-0.365515;CSQ=-|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-8880del|||||||rs138592356||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27759978del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-8880del|||||||rs138592356||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27759978del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-8880del|||||||rs138592356||-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27759978del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-8880del|||||||rs138592356||-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27759978del|||||||||||||,-|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-8880del|||||||rs138592356||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27759978del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|MN1|0.00|0.00|0.00|0.00|23|-38|-19|-23;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=10138;gnomADv4_1_AC_joint_XX=5014;gnomADv4_1_AC_joint_XY=5124;gnomADv4_1_AF_grpmax_joint=0.129252;gnomADv4_1_AF_joint=0.066587;gnomADv4_1_AF_joint_XX=0.0644423;gnomADv4_1_AF_joint_XY=0.0688284;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152252;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=497;gnomADv4_1_nhomalt_joint_XX=261;gnomADv4_1_nhomalt_joint_XY=236;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27761218 chr22_27761218_T_C T C 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=3.784;CADD_Rawscore=0.346076;CSQ=C|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-10122A>G|||||||rs885989||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27761218T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-10122A>G|||||||rs885989||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27761218T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-10122A>G|||||||rs885989||-1||HGNC|HGNC:7180|1||||||||Ensembl||T|T||1||chr22:g.27761218T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-10122A>G|||||||rs885989||-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27761218T>C|||||||||||||,C|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-10122A>G|||||||rs885989||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27761218T>C|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|MN1|0.00|0.00|0.00|0.00|8|14|41|-29;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=34010;gnomADv4_1_AC_joint_XX=17670;gnomADv4_1_AC_joint_XY=16340;gnomADv4_1_AF_grpmax_joint=0.311644;gnomADv4_1_AF_joint=0.225557;gnomADv4_1_AF_joint_XX=0.228833;gnomADv4_1_AF_joint_XY=0.22212;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=150782;gnomADv4_1_AN_joint_XX=77218;gnomADv4_1_AN_joint_XY=73564;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4190;gnomADv4_1_nhomalt_joint_XX=2211;gnomADv4_1_nhomalt_joint_XY=1979;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27761313 chr22_27761313_T_C T C 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=2.205;CADD_Rawscore=0.189894;CSQ=C|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-10217A>G|||||||rs77705688||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27761313T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-10217A>G|||||||rs77705688||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27761313T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-10217A>G|||||||rs77705688||-1||HGNC|HGNC:7180|1||||||||Ensembl||T|T||1||chr22:g.27761313T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-10217A>G|||||||rs77705688||-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27761313T>C|||||||||||||,C|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-10217A>G|||||||rs77705688||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27761313T>C|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|MN1|0.00|0.00|0.00|0.00|-1|-2|-35|-14;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=20594;gnomADv4_1_AC_joint_XX=10479;gnomADv4_1_AC_joint_XY=10115;gnomADv4_1_AF_grpmax_joint=0.226027;gnomADv4_1_AF_joint=0.136117;gnomADv4_1_AF_joint_XX=0.135321;gnomADv4_1_AF_joint_XY=0.136952;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151296;gnomADv4_1_AN_joint_XX=77438;gnomADv4_1_AN_joint_XY=73858;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1747;gnomADv4_1_nhomalt_joint_XX=917;gnomADv4_1_nhomalt_joint_XY=830;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27761433 chr22_27761433_A_G A G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADD_PHREDscore=0.032;CADD_Rawscore=-0.927437;CSQ=G|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-10337T>C|||||||rs201170467||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||A|A||1||chr22:g.27761433A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-10337T>C|||||||rs201170467||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||A|A||1||chr22:g.27761433A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-10337T>C|||||||rs201170467||-1||HGNC|HGNC:7180|1||||||||Ensembl||A|A||1||chr22:g.27761433A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-10337T>C|||||||rs201170467||-1||HGNC|HGNC:7180|||||||||Ensembl||A|A||1||chr22:g.27761433A>G|||||||||||||,G|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-10337T>C|||||||rs201170467||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||A|A||||chr22:g.27761433A>G|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|-24|-12|25|4;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=20061;gnomADv4_1_AC_joint_XX=10218;gnomADv4_1_AC_joint_XY=9843;gnomADv4_1_AF_grpmax_joint=0.275862;gnomADv4_1_AF_joint=0.202915;gnomADv4_1_AF_joint_XX=0.201055;gnomADv4_1_AF_joint_XY=0.204883;gnomADv4_1_AN_grpmax_joint=232;gnomADv4_1_AN_joint=98864;gnomADv4_1_AN_joint_XX=50822;gnomADv4_1_AN_joint_XY=48042;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1643;gnomADv4_1_nhomalt_joint_XX=861;gnomADv4_1_nhomalt_joint_XY=782;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27763155 chr22_27763155_C_T C T 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.226;CADD_Rawscore=0.035328;CSQ=T|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-12059G>A|||||||rs140379189||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27763155C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-12059G>A|||||||rs140379189||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27763155C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-12059G>A|||||||rs140379189||-1||HGNC|HGNC:7180|1||||||||Ensembl||C|C||1||chr22:g.27763155C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-12059G>A|||||||rs140379189||-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27763155C>T|||||||||||||,T|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-12059G>A|||||||rs140379189||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27763155C>T|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|MN1|0.00|0.00|0.00|0.00|47|-18|-37|-18;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=198;gnomADv4_1_AC_joint_XX=95;gnomADv4_1_AC_joint_XY=103;gnomADv4_1_AF_grpmax_joint=0.00340136;gnomADv4_1_AF_joint=0.00130036;gnomADv4_1_AF_joint_XX=0.00122086;gnomADv4_1_AF_joint_XY=0.00138344;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152266;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=3;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27763388 chr22_27763388_G_A G A 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.004;CADD_Rawscore=-1.57215;CSQ=A|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-12292C>T|||||||rs77362058||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27763388G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-12292C>T|||||||rs77362058||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27763388G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-12292C>T|||||||rs77362058||-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27763388G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-12292C>T|||||||rs77362058||-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27763388G>A|||||||||||||,A|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-12292C>T|||||||rs77362058||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27763388G>A|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|MN1|0.00|0.00|0.00|0.00|-50|42|-3|-32;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=10249;gnomADv4_1_AC_joint_XX=4994;gnomADv4_1_AC_joint_XY=5255;gnomADv4_1_AF_grpmax_joint=0.168465;gnomADv4_1_AF_joint=0.0673417;gnomADv4_1_AF_joint_XX=0.0641919;gnomADv4_1_AF_joint_XY=0.0706355;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=502;gnomADv4_1_nhomalt_joint_XX=250;gnomADv4_1_nhomalt_joint_XY=252;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27763546 chr22_27763546_T_G T G 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=4.65;CADD_Rawscore=0.423515;CSQ=G|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-12450A>C|||||||rs74562526||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27763546T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-12450A>C|||||||rs74562526||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27763546T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-12450A>C|||||||rs74562526||-1||HGNC|HGNC:7180|1||||||||Ensembl||T|T||1||chr22:g.27763546T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-12450A>C|||||||rs74562526||-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27763546T>G|||||||||||||,G|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-12450A>C|||||||rs74562526||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27763546T>G|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|6|5|2|1;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=12547;gnomADv4_1_AC_joint_XX=6236;gnomADv4_1_AC_joint_XY=6311;gnomADv4_1_AF_grpmax_joint=0.204082;gnomADv4_1_AF_joint=0.0824278;gnomADv4_1_AF_joint_XX=0.0801707;gnomADv4_1_AF_joint_XY=0.0847865;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152218;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=735;gnomADv4_1_nhomalt_joint_XX=376;gnomADv4_1_nhomalt_joint_XY=359;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27763684 chr22_27763684_G_A G A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.675;CADD_Rawscore=-0.118003;CSQ=A|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-12588C>T|||||||rs5762347||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27763684G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-12588C>T|||||||rs5762347||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27763684G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-12588C>T|||||||rs5762347||-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27763684G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-12588C>T|||||||rs5762347||-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27763684G>A|||||||||||||,A|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-12588C>T|||||||rs5762347||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27763684G>A|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|MN1|0.00|0.00|0.00|0.00|-26|-45|2|-11;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=64226;gnomADv4_1_AC_joint_XX=33007;gnomADv4_1_AC_joint_XY=31219;gnomADv4_1_AF_grpmax_joint=0.625291;gnomADv4_1_AF_joint=0.422117;gnomADv4_1_AF_joint_XX=0.42444;gnomADv4_1_AF_joint_XY=0.419689;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14777;gnomADv4_1_nhomalt_joint_XX=7584;gnomADv4_1_nhomalt_joint_XY=7193;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27763702 chr22_27763702_T_C T C 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.008;CADD_Rawscore=-1.34703;CSQ=C|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-12606A>G|||||||rs5762348||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27763702T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-12606A>G|||||||rs5762348||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27763702T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-12606A>G|||||||rs5762348||-1||HGNC|HGNC:7180|1||||||||Ensembl||T|T||1||chr22:g.27763702T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-12606A>G|||||||rs5762348||-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27763702T>C|||||||||||||,C|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-12606A>G|||||||rs5762348||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27763702T>C|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|MN1|0.00|0.00|0.00|0.00|-35|-44|-29|7;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=105093;gnomADv4_1_AC_joint_XX=53529;gnomADv4_1_AC_joint_XY=51564;gnomADv4_1_AF_grpmax_joint=0.86464;gnomADv4_1_AF_joint=0.690475;gnomADv4_1_AF_joint_XX=0.687998;gnomADv4_1_AF_joint_XY=0.693065;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152204;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=37264;gnomADv4_1_nhomalt_joint_XX=18933;gnomADv4_1_nhomalt_joint_XY=18331;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27763760 chr22_27763760_T_C T C 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=3.015;CADD_Rawscore=0.275954;CSQ=C|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-12664A>G|||||||rs5762349||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27763760T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-12664A>G|||||||rs5762349||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27763760T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-12664A>G|||||||rs5762349||-1||HGNC|HGNC:7180|1||||||||Ensembl||T|T||1||chr22:g.27763760T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-12664A>G|||||||rs5762349||-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27763760T>C|||||||||||||,C|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-12664A>G|||||||rs5762349||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27763760T>C|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|MN1|0.00|0.00|0.00|0.00|5|24|24|8;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=64616;gnomADv4_1_AC_joint_XX=33202;gnomADv4_1_AC_joint_XY=31414;gnomADv4_1_AF_grpmax_joint=0.629759;gnomADv4_1_AF_joint=0.42496;gnomADv4_1_AF_joint_XX=0.427233;gnomADv4_1_AF_joint_XY=0.422583;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=152052;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14998;gnomADv4_1_nhomalt_joint_XX=7711;gnomADv4_1_nhomalt_joint_XY=7287;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27763936 chr22_27763936_A_T A T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.945;CADD_Rawscore=0.156556;CSQ=T|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-12840T>A|||||||rs966982148||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||A|A||1||chr22:g.27763936A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-12840T>A|||||||rs966982148||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||A|A||1||chr22:g.27763936A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-12840T>A|||||||rs966982148||-1||HGNC|HGNC:7180|1||||||||Ensembl||A|A||1||chr22:g.27763936A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-12840T>A|||||||rs966982148||-1||HGNC|HGNC:7180|||||||||Ensembl||A|A||1||chr22:g.27763936A>T|||||||||||||,T|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-12840T>A|||||||rs966982148||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||A|A||||chr22:g.27763936A>T|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|MN1|0.00|0.00|0.00|0.00|5|-36|1|-29;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=5;gnomADv4_1_AC_joint_XX=4;gnomADv4_1_AC_joint_XY=1;gnomADv4_1_AF_grpmax_joint=2.4115e-05;gnomADv4_1_AF_joint=3.28511e-05;gnomADv4_1_AF_joint_XX=5.13888e-05;gnomADv4_1_AF_joint_XY=1.34474e-05;gnomADv4_1_AN_grpmax_joint=41468;gnomADv4_1_AN_joint=152202;gnomADv4_1_AN_joint_XX=77838;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27764086 chr22_27764086_T_C T C 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.051;CADD_Rawscore=-0.796963;CSQ=C|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-12990A>G|||||||rs3819658||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27764086T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-12990A>G|||||||rs3819658||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27764086T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-12990A>G|||||||rs3819658||-1||HGNC|HGNC:7180|1||||||||Ensembl||T|T||1||chr22:g.27764086T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-12990A>G|||||||rs3819658||-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27764086T>C|||||||||||||,C|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-12990A>G|||||||rs3819658||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27764086T>C|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|MN1|0.00|0.00|0.00|0.00|8|-27|1|7;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=107176;gnomADv4_1_AC_joint_XX=54597;gnomADv4_1_AC_joint_XY=52579;gnomADv4_1_AF_grpmax_joint=0.86466;gnomADv4_1_AF_joint=0.704716;gnomADv4_1_AF_joint_XX=0.70214;gnomADv4_1_AF_joint_XY=0.707411;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=38564;gnomADv4_1_nhomalt_joint_XX=19588;gnomADv4_1_nhomalt_joint_XY=18976;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27764419 chr22_27764419_C_T C T 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.263;CADD_Rawscore=0.042905;CSQ=T|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-13323G>A|||||||rs3819660||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27764419C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-13323G>A|||||||rs3819660||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27764419C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-13323G>A|||||||rs3819660||-1||HGNC|HGNC:7180|1||||||||Ensembl||C|C||1||chr22:g.27764419C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-13323G>A|||||||rs3819660||-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27764419C>T|||||||||||||,T|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-13323G>A|||||||rs3819660||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27764419C>T|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|MN1|0.00|0.00|0.00|0.00|-38|-23|46|-17;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=67288;gnomADv4_1_AC_joint_XX=34576;gnomADv4_1_AC_joint_XY=32712;gnomADv4_1_AF_grpmax_joint=0.629564;gnomADv4_1_AF_joint=0.44269;gnomADv4_1_AF_joint_XX=0.444994;gnomADv4_1_AF_joint_XY=0.440281;gnomADv4_1_AN_grpmax_joint=41462;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=16085;gnomADv4_1_nhomalt_joint_XX=8248;gnomADv4_1_nhomalt_joint_XY=7837;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27764984 chr22_27764984_T_G T G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.149;CADD_Rawscore=-0.505192;CSQ=G|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-13888A>C|||||||rs4822936||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27764984T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-13888A>C|||||||rs4822936||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27764984T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-13888A>C|||||||rs4822936||-1||HGNC|HGNC:7180|1||||||||Ensembl||T|T||1||chr22:g.27764984T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-13888A>C|||||||rs4822936||-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27764984T>G|||||||||||||,G|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-13888A>C|||||||rs4822936||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27764984T>G|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|-7|30|-27|-44;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=107024;gnomADv4_1_AC_joint_XX=54486;gnomADv4_1_AC_joint_XY=52538;gnomADv4_1_AF_grpmax_joint=0.853941;gnomADv4_1_AF_joint=0.703596;gnomADv4_1_AF_joint_XX=0.700749;gnomADv4_1_AF_joint_XY=0.706574;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=38338;gnomADv4_1_nhomalt_joint_XX=19442;gnomADv4_1_nhomalt_joint_XY=18896;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27764996 chr22_27764996_G_C G C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.59;CADD_Rawscore=-0.151832;CSQ=C|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-13900C>G|||||||rs4822937||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27764996G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-13900C>G|||||||rs4822937||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27764996G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-13900C>G|||||||rs4822937||-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27764996G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-13900C>G|||||||rs4822937||-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27764996G>C|||||||||||||,C|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-13900C>G|||||||rs4822937||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27764996G>C|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|MN1|0.00|0.00|0.00|0.00|-1|18|-39|-8;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=68161;gnomADv4_1_AC_joint_XX=35125;gnomADv4_1_AC_joint_XY=33036;gnomADv4_1_AF_grpmax_joint=0.601605;gnomADv4_1_AF_joint=0.44815;gnomADv4_1_AF_joint_XX=0.451792;gnomADv4_1_AF_joint_XY=0.444343;gnomADv4_1_AN_grpmax_joint=41494;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=16039;gnomADv4_1_nhomalt_joint_XX=8270;gnomADv4_1_nhomalt_joint_XY=7769;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27765422 chr22_27765422_AG_A AG A 47 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.484;CADDIndel_Rawscore=-0.201058;CSQ=-|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-14327del|||||||rs11337650||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27765423del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-14327del|||||||rs11337650||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27765423del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-14327del|||||||rs11337650||-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27765423del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-14327del|||||||rs11337650||-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27765423del|||||||||||||,-|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-14327del|||||||rs11337650||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27765423del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|MN1|0.00|0.00|0.00|0.00|-20|-17|14|34;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=97054;gnomADv4_1_AC_joint_XX=49737;gnomADv4_1_AC_joint_XY=47317;gnomADv4_1_AF_grpmax_joint=0.806646;gnomADv4_1_AF_joint=0.639658;gnomADv4_1_AF_joint_XX=0.64099;gnomADv4_1_AF_joint_XY=0.638263;gnomADv4_1_AN_grpmax_joint=41380;gnomADv4_1_AN_joint=151728;gnomADv4_1_AN_joint_XX=77594;gnomADv4_1_AN_joint_XY=74134;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31838;gnomADv4_1_nhomalt_joint_XX=16348;gnomADv4_1_nhomalt_joint_XY=15490;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27765817 chr22_27765817_G_C G C 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=2.723;CADD_Rawscore=0.247164;CSQ=C|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-14721C>G|||||||rs74993282||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27765817G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-14721C>G|||||||rs74993282||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27765817G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-14721C>G|||||||rs74993282||-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27765817G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-14721C>G|||||||rs74993282||-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27765817G>C|||||||||||||,C|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-14721C>G|||||||rs74993282||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27765817G>C|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|MN1|0.00|0.00|0.00|0.00|8|-3|-5|-9;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=12858;gnomADv4_1_AC_joint_XX=6323;gnomADv4_1_AC_joint_XY=6535;gnomADv4_1_AF_grpmax_joint=0.194687;gnomADv4_1_AF_joint=0.0844499;gnomADv4_1_AF_joint_XX=0.0812516;gnomADv4_1_AF_joint_XY=0.0877935;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152256;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=771;gnomADv4_1_nhomalt_joint_XX=384;gnomADv4_1_nhomalt_joint_XY=387;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27766016 chr22_27766016_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.931;CADD_Rawscore=0.154686;CSQ=A|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-14920C>T|||||||rs960239312||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27766016G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-14920C>T|||||||rs960239312||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27766016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-14920C>T|||||||rs960239312||-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27766016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-14920C>T|||||||rs960239312||-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27766016G>A|||||||||||||,A|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-14920C>T|||||||rs960239312||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27766016G>A|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|MN1|0.00|0.00|0.00|0.00|-12|3|29|4;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=6;gnomADv4_1_AC_joint_XX=4;gnomADv4_1_AC_joint_XY=2;gnomADv4_1_AF_grpmax_joint=2.41429e-05;gnomADv4_1_AF_joint=3.94493e-05;gnomADv4_1_AF_joint_XX=5.14007e-05;gnomADv4_1_AF_joint_XY=2.69273e-05;gnomADv4_1_AN_grpmax_joint=41420;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27767358 chr22_27767358_G_A G A 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.137;CADD_Rawscore=-0.527679;CSQ=A|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-16262C>T|||||||rs7292322||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27767358G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-16262C>T|||||||rs7292322||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27767358G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-16262C>T|||||||rs7292322||-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27767358G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-16262C>T|||||||rs7292322||-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27767358G>A|||||||||||||,A|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-16262C>T|||||||rs7292322||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27767358G>A|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|MN1|0.00|0.00|0.00|0.00|46|4|46|-13;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=25326;gnomADv4_1_AC_joint_XX=12956;gnomADv4_1_AC_joint_XY=12370;gnomADv4_1_AF_grpmax_joint=0.251843;gnomADv4_1_AF_joint=0.166586;gnomADv4_1_AF_joint_XX=0.166701;gnomADv4_1_AF_joint_XY=0.166465;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152030;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2539;gnomADv4_1_nhomalt_joint_XX=1273;gnomADv4_1_nhomalt_joint_XY=1266;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27768815 chr22_27768815_T_G T G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.26;CADD_Rawscore=0.0424;CSQ=G|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-17719A>C|||||||rs1568973921||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27768815T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-17719A>C|||||||rs1568973921||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27768815T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-17719A>C|||||||rs1568973921||-1||HGNC|HGNC:7180|1||||||||Ensembl||T|T||1||chr22:g.27768815T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-17719A>C|||||||rs1568973921||-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27768815T>G|||||||||||||,G|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-17719A>C|||||||rs1568973921||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27768815T>G|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|-11|11|-11|38;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27769113 chr22_27769113_T_G T G 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=3.037;CADD_Rawscore=0.278014;CSQ=G|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-18017A>C|||||||rs17477193||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27769113T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-18017A>C|||||||rs17477193||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27769113T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-18017A>C|||||||rs17477193||-1||HGNC|HGNC:7180|1||||||||Ensembl||T|T||1||chr22:g.27769113T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-18017A>C|||||||rs17477193||-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27769113T>G|||||||||||||,G|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-18017A>C|||||||rs17477193||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27769113T>G|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|-20|49|49|-1;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=10750;gnomADv4_1_AC_joint_XX=5189;gnomADv4_1_AC_joint_XY=5561;gnomADv4_1_AF_grpmax_joint=0.207383;gnomADv4_1_AF_joint=0.0706094;gnomADv4_1_AF_joint_XX=0.0666864;gnomADv4_1_AF_joint_XY=0.0747105;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152246;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=577;gnomADv4_1_nhomalt_joint_XX=277;gnomADv4_1_nhomalt_joint_XY=300;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27769346 chr22_27769346_A_G A G 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.69;CADD_Rawscore=-0.112421;CSQ=G|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-18250T>C|||||||rs2283846||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||A|A||1||chr22:g.27769346A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-18250T>C|||||||rs2283846||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||A|A||1||chr22:g.27769346A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-18250T>C|||||||rs2283846||-1||HGNC|HGNC:7180|1||||||||Ensembl||A|A||1||chr22:g.27769346A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-18250T>C|||||||rs2283846||-1||HGNC|HGNC:7180|||||||||Ensembl||A|A||1||chr22:g.27769346A>G|||||||||||||,G|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-18250T>C|||||||rs2283846||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||A|A||||chr22:g.27769346A>G|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|6|-49|-48|7;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=69155;gnomADv4_1_AC_joint_XX=35402;gnomADv4_1_AC_joint_XY=33753;gnomADv4_1_AF_grpmax_joint=0.641863;gnomADv4_1_AF_joint=0.455969;gnomADv4_1_AF_joint_XX=0.456282;gnomADv4_1_AF_joint_XY=0.455641;gnomADv4_1_AN_grpmax_joint=41244;gnomADv4_1_AN_joint=151666;gnomADv4_1_AN_joint_XX=77588;gnomADv4_1_AN_joint_XY=74078;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17006;gnomADv4_1_nhomalt_joint_XX=8721;gnomADv4_1_nhomalt_joint_XY=8285;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27769762 chr22_27769762_C_G C G 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.139;CADD_Rawscore=-0.523092;CSQ=G|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-18666G>C|||||||rs5762350||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27769762C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-18666G>C|||||||rs5762350||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27769762C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-18666G>C|||||||rs5762350||-1||HGNC|HGNC:7180|1||||||||Ensembl||C|C||1||chr22:g.27769762C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-18666G>C|||||||rs5762350||-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27769762C>G|||||||||||||,G|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-18666G>C|||||||rs5762350||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27769762C>G|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|-35|1|-7|1;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=83574;gnomADv4_1_AC_joint_XX=42815;gnomADv4_1_AC_joint_XY=40759;gnomADv4_1_AF_grpmax_joint=0.759069;gnomADv4_1_AF_joint=0.554145;gnomADv4_1_AF_joint_XX=0.554326;gnomADv4_1_AF_joint_XY=0.553956;gnomADv4_1_AN_grpmax_joint=5072;gnomADv4_1_AN_joint=150816;gnomADv4_1_AN_joint_XX=77238;gnomADv4_1_AN_joint_XY=73578;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24186;gnomADv4_1_nhomalt_joint_XX=12352;gnomADv4_1_nhomalt_joint_XY=11834;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27769863 chr22_27769863_AT_A AT A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.34;CADDIndel_Rawscore=-0.290027;CSQ=-|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-18768del|||||||rs3216408||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27769872del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-18768del|||||||rs3216408||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27769872del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-18768del|||||||rs3216408||-1||HGNC|HGNC:7180|1||||||||Ensembl||T|T||1||chr22:g.27769872del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-18768del|||||||rs3216408||-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27769872del|||||||||||||,-|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-18768del|||||||rs3216408||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27769872del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|MN1|0.00|0.00|0.00|0.00|-44|-22|18|15;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=47705;gnomADv4_1_AC_joint_XX=24168;gnomADv4_1_AC_joint_XY=23537;gnomADv4_1_AF_grpmax_joint=0.445306;gnomADv4_1_AF_joint=0.315622;gnomADv4_1_AF_joint_XX=0.312482;gnomADv4_1_AF_joint_XY=0.318912;gnomADv4_1_AN_grpmax_joint=4772;gnomADv4_1_AN_joint=151146;gnomADv4_1_AN_joint_XX=77342;gnomADv4_1_AN_joint_XY=73804;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=7947;gnomADv4_1_nhomalt_joint_XX=3961;gnomADv4_1_nhomalt_joint_XY=3986;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27770482 chr22_27770482_C_A C A 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=29;CADD_PHREDscore=2.379;CADD_Rawscore=0.210274;CSQ=A|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-19386G>T|||||||rs2880840||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27770482C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-19386G>T|||||||rs2880840||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27770482C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-19386G>T|||||||rs2880840||-1||HGNC|HGNC:7180|1||||||||Ensembl||C|C||1||chr22:g.27770482C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-19386G>T|||||||rs2880840||-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27770482C>A|||||||||||||,A|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-19386G>T|||||||rs2880840||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27770482C>A|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|MN1|0.00|0.00|0.00|0.00|-11|47|2|-12;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=22336;gnomADv4_1_AC_joint_XX=11693;gnomADv4_1_AC_joint_XY=10643;gnomADv4_1_AF_grpmax_joint=0.220496;gnomADv4_1_AF_joint=0.146826;gnomADv4_1_AF_joint_XX=0.150342;gnomADv4_1_AF_joint_XY=0.143147;gnomADv4_1_AN_grpmax_joint=67974;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2107;gnomADv4_1_nhomalt_joint_XX=1124;gnomADv4_1_nhomalt_joint_XY=983;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27770622 chr22_27770622_A_C A C 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=3.274;CADD_Rawscore=0.300145;CSQ=C|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-19526T>G|||||||rs923977893||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||A|A||1||chr22:g.27770622A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-19526T>G|||||||rs923977893||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||A|A||1||chr22:g.27770622A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-19526T>G|||||||rs923977893||-1||HGNC|HGNC:7180|1||||||||Ensembl||A|A||1||chr22:g.27770622A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-19526T>G|||||||rs923977893||-1||HGNC|HGNC:7180|||||||||Ensembl||A|A||1||chr22:g.27770622A>C|||||||||||||,C|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-19526T>G|||||||rs923977893||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||A|A||||chr22:g.27770622A>C|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|MN1|0.00|0.00|0.00|0.00|21|-21|1|2;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=5;gnomADv4_1_AC_joint_XX=1;gnomADv4_1_AC_joint_XY=4;gnomADv4_1_AF_joint=3.29376e-05;gnomADv4_1_AF_joint_XX=1.2879e-05;gnomADv4_1_AF_joint_XY=5.39403e-05;gnomADv4_1_AN_joint=151802;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=74156;gnomADv4_1_FILTER=PASS;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27771219 chr22_27771219_CT_C CT C 16 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=16;CADDIndel_PHREDscore=0.012;CADDIndel_Rawscore=-1.21265;CSQ=-|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-20124del|||||||rs11330963||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27771245del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-20124del|||||||rs11330963||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27771245del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.138-20124del|||||||rs11330963||-1||HGNC|HGNC:7180|1||||||||Ensembl||T|T||1||chr22:g.27771245del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-20124del|||||||rs11330963||-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27771245del|||||||||||||,-|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-20124del|||||||rs11330963||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27771245del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|MN1|0.00|0.00|0.00|0.00|-48|30|43|1;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=21227;gnomADv4_1_AC_joint_XX=11881;gnomADv4_1_AC_joint_XY=9346;gnomADv4_1_AF_grpmax_joint=0.345875;gnomADv4_1_AF_joint=0.246179;gnomADv4_1_AF_joint_XX=0.253272;gnomADv4_1_AF_joint_XY=0.237715;gnomADv4_1_AN_grpmax_joint=2206;gnomADv4_1_AN_joint=86226;gnomADv4_1_AN_joint_XX=46910;gnomADv4_1_AN_joint_XY=39316;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2304;gnomADv4_1_nhomalt_joint_XX=1265;gnomADv4_1_nhomalt_joint_XY=1039;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27772359 chr22_27772359_A_G A G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=12.18;CADD_Rawscore=1.1977;CSQ=G|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-21263T>C|||||||rs5762351||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||A|A||1||chr22:g.27772359A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-21263T>C|||||||rs5762351||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||A|A||1||chr22:g.27772359A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+19388T>C|||||||rs5762351||-1||HGNC|HGNC:7180|1||||||||Ensembl||A|A||1||chr22:g.27772359A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-21263T>C|||||||rs5762351||-1||HGNC|HGNC:7180|||||||||Ensembl||A|A||1||chr22:g.27772359A>G|||||||||||||,G|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-21263T>C|||||||rs5762351||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||A|A||||chr22:g.27772359A>G|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|9|20|20|-26;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=28313;gnomADv4_1_AC_joint_XX=14537;gnomADv4_1_AC_joint_XY=13776;gnomADv4_1_AF_grpmax_joint=0.269146;gnomADv4_1_AF_joint=0.186008;gnomADv4_1_AF_joint_XX=0.186875;gnomADv4_1_AF_joint_XY=0.185102;gnomADv4_1_AN_grpmax_joint=41524;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2877;gnomADv4_1_nhomalt_joint_XX=1473;gnomADv4_1_nhomalt_joint_XY=1404;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27772597 chr22_27772597_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.131;CADD_Rawscore=-0.538492;CSQ=T|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-21501G>A|||||||rs434737||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27772597C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-21501G>A|||||||rs434737||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27772597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+19150G>A|||||||rs434737||-1||HGNC|HGNC:7180|1||||||||Ensembl||C|C||1||chr22:g.27772597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-21501G>A|||||||rs434737||-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27772597C>T|||||||||||||,T|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-21501G>A|||||||rs434737||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27772597C>T|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|MN1|0.00|0.00|0.00|0.00|13|2|-4|-25;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=44193;gnomADv4_1_AC_joint_XX=22993;gnomADv4_1_AC_joint_XY=21200;gnomADv4_1_AF_grpmax_joint=0.37036;gnomADv4_1_AF_joint=0.290816;gnomADv4_1_AF_joint_XX=0.295966;gnomADv4_1_AF_joint_XY=0.28543;gnomADv4_1_AN_grpmax_joint=67942;gnomADv4_1_AN_joint=151962;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6928;gnomADv4_1_nhomalt_joint_XX=3684;gnomADv4_1_nhomalt_joint_XY=3244;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27772852 chr22_27772852_CCATCAT_C CCATCAT C 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.64;CADDIndel_Rawscore=-0.131381;CSQ=-|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-21762_3782-21757del|||||||rs113365837||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||CATCAT|CATCAT||1||chr22:g.27772880_27772885del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-21762_135-21757del|||||||rs113365837||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||CATCAT|CATCAT||1||chr22:g.27772880_27772885del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+18889_137+18894del|||||||rs113365837||-1||HGNC|HGNC:7180|1||||||||Ensembl||CATCAT|CATCAT||1||chr22:g.27772880_27772885del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.307-21762_307-21757del|||||||rs113365837||-1||HGNC|HGNC:7180|||||||||Ensembl||CATCAT|CATCAT||1||chr22:g.27772880_27772885del|||||||||||||,-|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-21762_3782-21757del|||||||rs113365837||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||CATCAT|CATCAT||||chr22:g.27772880_27772885del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=1601;gnomADv4_1_AC_joint_XX=864;gnomADv4_1_AC_joint_XY=737;gnomADv4_1_AF_grpmax_joint=0.0172623;gnomADv4_1_AF_joint=0.0108523;gnomADv4_1_AF_joint_XX=0.0114274;gnomADv4_1_AF_joint_XY=0.0102478;gnomADv4_1_AN_grpmax_joint=14830;gnomADv4_1_AN_joint=147526;gnomADv4_1_AN_joint_XX=75608;gnomADv4_1_AN_joint_XY=71918;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=15;gnomADv4_1_nhomalt_joint_XX=9;gnomADv4_1_nhomalt_joint_XY=6;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27773511 chr22_27773511_C_T C T 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=4.026;CADD_Rawscore=0.367502;CSQ=T|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-22415G>A|||||||rs372418||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27773511C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-22415G>A|||||||rs372418||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27773511C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+18236G>A|||||||rs372418||-1||HGNC|HGNC:7180|1||||||||Ensembl||C|C||1||chr22:g.27773511C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+21612G>A|||||||rs372418||-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27773511C>T|||||||||||||,T|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-22415G>A|||||||rs372418||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27773511C>T|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|MN1|0.00|0.00|0.00|0.00|-2|48|9|-8;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=53327;gnomADv4_1_AC_joint_XX=26844;gnomADv4_1_AC_joint_XY=26483;gnomADv4_1_AF_grpmax_joint=0.491086;gnomADv4_1_AF_joint=0.350485;gnomADv4_1_AF_joint_XX=0.345163;gnomADv4_1_AF_joint_XY=0.35605;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=9558;gnomADv4_1_nhomalt_joint_XX=4746;gnomADv4_1_nhomalt_joint_XY=4812;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27773533 chr22_27773533_C_A C A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.164;CADD_Rawscore=-0.479776;CSQ=A|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3782-22437G>T|||||||rs1297593||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27773533C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.135-22437G>T|||||||rs1297593||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27773533C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+18214G>T|||||||rs1297593||-1||HGNC|HGNC:7180|1||||||||Ensembl||C|C||1||chr22:g.27773533C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+21590G>T|||||||rs1297593||-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27773533C>A|||||||||||||,A|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3782-22437G>T|||||||rs1297593||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27773533C>A|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|MN1|0.00|0.00|0.00|0.00|26|0|-6|38;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=127946;gnomADv4_1_AC_joint_XX=65807;gnomADv4_1_AC_joint_XY=62139;gnomADv4_1_AF_grpmax_joint=0.961409;gnomADv4_1_AF_joint=0.840313;gnomADv4_1_AF_joint_XX=0.845522;gnomADv4_1_AF_joint_XY=0.834865;gnomADv4_1_AN_grpmax_joint=41564;gnomADv4_1_AN_joint=152260;gnomADv4_1_AN_joint_XX=77830;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=54259;gnomADv4_1_nhomalt_joint_XX=28092;gnomADv4_1_nhomalt_joint_XY=26167;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27776589 chr22_27776589_T_G T G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.555;CADD_Rawscore=-0.166974;CSQ=G|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+20174A>C|||||||rs4822939||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27776589T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+20174A>C|||||||rs4822939||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27776589T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+15158A>C|||||||rs4822939||-1||HGNC|HGNC:7180|1||||||||Ensembl||T|T||1||chr22:g.27776589T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+18534A>C|||||||rs4822939||-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27776589T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs4822939|3939|-1||||||||||||Ensembl||T|T||||chr22:g.27776589T>G|||||||||||||,G|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+20174A>C|||||||rs4822939||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27776589T>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7HSL|enhancer||||||||||rs4822939|||||||||||||||||||||chr22:g.27776589T>G|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|-33|-38|-32|32;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3,ENSR22_B7HSL;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330,.;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96873;gnomADv4_1_AC_joint_XX=49353;gnomADv4_1_AC_joint_XY=47520;gnomADv4_1_AF_grpmax_joint=0.880329;gnomADv4_1_AF_joint=0.637792;gnomADv4_1_AF_joint_XX=0.635403;gnomADv4_1_AF_joint_XY=0.640293;gnomADv4_1_AN_grpmax_joint=41472;gnomADv4_1_AN_joint=151888;gnomADv4_1_AN_joint_XX=77672;gnomADv4_1_AN_joint_XY=74216;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=33002;gnomADv4_1_nhomalt_joint_XX=16855;gnomADv4_1_nhomalt_joint_XY=16147;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27777547 chr22_27777547_A_AG A AG 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=39;CADDIndel_PHREDscore=0.648;CADDIndel_Rawscore=-0.128131;CSQ=G|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+19215_3781+19216insC|||||||rs57833568||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl|||||1||chr22:g.27777547_27777548insG|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+19215_134+19216insC|||||||rs57833568||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl|||||1||chr22:g.27777547_27777548insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+14199_137+14200insC|||||||rs57833568||-1||HGNC|HGNC:7180|1||||||||Ensembl|||||1||chr22:g.27777547_27777548insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+17575_306+17576insC|||||||rs57833568||-1||HGNC|HGNC:7180|||||||||Ensembl|||||1||chr22:g.27777547_27777548insG|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs57833568|2980|-1||||||||||||Ensembl|||||||chr22:g.27777547_27777548insG|||||||||||||,G|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+19215_3781+19216insC|||||||rs57833568||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq|||||||chr22:g.27777547_27777548insG|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=AG|MN1|0.00|0.00|0.00|0.00|-23|-16|-10|-16;TYPE=INDEL;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=5;gnomADv4_1_AC_joint_XX=2;gnomADv4_1_AC_joint_XY=3;gnomADv4_1_AF_grpmax_joint=0.000314465;gnomADv4_1_AF_joint=4.28368e-05;gnomADv4_1_AF_joint_XX=3.33034e-05;gnomADv4_1_AF_joint_XY=5.29399e-05;gnomADv4_1_AN_grpmax_joint=3180;gnomADv4_1_AN_joint=116722;gnomADv4_1_AN_joint_XX=60054;gnomADv4_1_AN_joint_XY=56668;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27777557 chr22_27777557_GA_G GA G 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=0.285;CADDIndel_Rawscore=-0.335245;CSQ=-|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+19205del|||||||rs59902802||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||A|A||1||chr22:g.27777567del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+19205del|||||||rs59902802||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||A|A||1||chr22:g.27777567del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+14189del|||||||rs59902802||-1||HGNC|HGNC:7180|1||||||||Ensembl||A|A||1||chr22:g.27777567del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+17565del|||||||rs59902802||-1||HGNC|HGNC:7180|||||||||Ensembl||A|A||1||chr22:g.27777567del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs59902802|2970|-1||||||||||||Ensembl||A|A||||chr22:g.27777567del|||||||||||||,-|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+19205del|||||||rs59902802||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||A|A||||chr22:g.27777567del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|-26|9|42|-32;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=17;gnomADv4_1_AC_joint_XX=5;gnomADv4_1_AC_joint_XY=12;gnomADv4_1_AF_grpmax_joint=0.000714286;gnomADv4_1_AF_joint=0.000153015;gnomADv4_1_AF_joint_XX=8.71232e-05;gnomADv4_1_AF_joint_XY=0.000223422;gnomADv4_1_AN_grpmax_joint=2800;gnomADv4_1_AN_joint=111100;gnomADv4_1_AN_joint_XX=57390;gnomADv4_1_AN_joint_XY=53710;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27777582 chr22_27777582_A_G A G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.109;CADD_Rawscore=-0.587207;CSQ=G|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+19181T>C|||||||rs5752634||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||A|A||1||chr22:g.27777582A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+19181T>C|||||||rs5752634||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||A|A||1||chr22:g.27777582A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+14165T>C|||||||rs5752634||-1||HGNC|HGNC:7180|1||||||||Ensembl||A|A||1||chr22:g.27777582A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+17541T>C|||||||rs5752634||-1||HGNC|HGNC:7180|||||||||Ensembl||A|A||1||chr22:g.27777582A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs5752634|2946|-1||||||||||||Ensembl||A|A||||chr22:g.27777582A>G|||||||||||||,G|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+19181T>C|||||||rs5752634||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||A|A||||chr22:g.27777582A>G|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|-24|5|-45|17;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=37092;gnomADv4_1_AC_joint_XX=18863;gnomADv4_1_AC_joint_XY=18229;gnomADv4_1_AF_grpmax_joint=0.419513;gnomADv4_1_AF_joint=0.246229;gnomADv4_1_AF_joint_XX=0.244593;gnomADv4_1_AF_joint_XY=0.247946;gnomADv4_1_AN_grpmax_joint=5094;gnomADv4_1_AN_joint=150640;gnomADv4_1_AN_joint_XX=77120;gnomADv4_1_AN_joint_XY=73520;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5103;gnomADv4_1_nhomalt_joint_XX=2615;gnomADv4_1_nhomalt_joint_XY=2488;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27777702 chr22_27777702_T_TAC T TAC 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.841;CADDIndel_Rawscore=-0.062243;CSQ=AC|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+19059_3781+19060dup|||||||rs35992247||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl|||||1||chr22:g.27777720_27777721dup|||||||||||||,AC|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+19059_134+19060dup|||||||rs35992247||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl|||||1||chr22:g.27777720_27777721dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+14043_137+14044dup|||||||rs35992247||-1||HGNC|HGNC:7180|1||||||||Ensembl|||||1||chr22:g.27777720_27777721dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+17419_306+17420dup|||||||rs35992247||-1||HGNC|HGNC:7180|||||||||Ensembl|||||1||chr22:g.27777720_27777721dup|||||||||||||,AC|downstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs35992247|2825|-1||||||||||||Ensembl|||||||chr22:g.27777720_27777721dup|||||||||||||,AC|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+19059_3781+19060dup|||||||rs35992247||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq|||||||chr22:g.27777720_27777721dup|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=AC,AC,AC,AC,AC,AC;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=83396;gnomADv4_1_AC_joint_XX=42467;gnomADv4_1_AC_joint_XY=40929;gnomADv4_1_AF_grpmax_joint=0.673062;gnomADv4_1_AF_joint=0.561211;gnomADv4_1_AF_joint_XX=0.556477;gnomADv4_1_AF_joint_XY=0.566209;gnomADv4_1_AN_grpmax_joint=40344;gnomADv4_1_AN_joint=148600;gnomADv4_1_AN_joint_XX=76314;gnomADv4_1_AN_joint_XY=72286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23935;gnomADv4_1_nhomalt_joint_XX=12129;gnomADv4_1_nhomalt_joint_XY=11806;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27777910 chr22_27777910_T_C T C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=3.692;CADD_Rawscore=0.337861;CSQ=C|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+18853A>G|||||||rs427736||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27777910T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+18853A>G|||||||rs427736||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27777910T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+13837A>G|||||||rs427736||-1||HGNC|HGNC:7180|1||||||||Ensembl||T|T||1||chr22:g.27777910T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+17213A>G|||||||rs427736||-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27777910T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs427736|2618|-1||||||||||||Ensembl||T|T||||chr22:g.27777910T>C|||||||||||||,C|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+18853A>G|||||||rs427736||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27777910T>C|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|MN1|0.00|0.00|0.00|0.00|0|-37|5|12;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=94656;gnomADv4_1_AC_joint_XX=48136;gnomADv4_1_AC_joint_XY=46520;gnomADv4_1_AF_grpmax_joint=0.837202;gnomADv4_1_AF_joint=0.624982;gnomADv4_1_AF_joint_XX=0.621366;gnomADv4_1_AF_joint_XY=0.628768;gnomADv4_1_AN_grpmax_joint=41272;gnomADv4_1_AN_joint=151454;gnomADv4_1_AN_joint_XX=77468;gnomADv4_1_AN_joint_XY=73986;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31263;gnomADv4_1_nhomalt_joint_XX=15892;gnomADv4_1_nhomalt_joint_XY=15371;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27778981 chr22_27778981_G_C G C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.305;CADD_Rawscore=-0.317831;CSQ=C|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+17782C>G|||||||rs1297594||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27778981G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+17782C>G|||||||rs1297594||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27778981G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+12766C>G|||||||rs1297594||-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27778981G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+16142C>G|||||||rs1297594||-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27778981G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs1297594|1547|-1||||||||||||Ensembl||G|G||||chr22:g.27778981G>C|||||||||||||,C|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+17782C>G|||||||rs1297594||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27778981G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7HSW|enhancer||||||||||rs1297594|||||||||||||||||||||chr22:g.27778981G>C|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|MN1|0.00|0.00|0.00|0.00|-25|25|-2|25;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3,ENSR22_B7HSW;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330,.;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119162;gnomADv4_1_AC_joint_XX=61057;gnomADv4_1_AC_joint_XY=58105;gnomADv4_1_AF_grpmax_joint=0.836903;gnomADv4_1_AF_joint=0.783497;gnomADv4_1_AF_joint_XX=0.785339;gnomADv4_1_AF_joint_XY=0.781569;gnomADv4_1_AN_grpmax_joint=41466;gnomADv4_1_AN_joint=152090;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=46878;gnomADv4_1_nhomalt_joint_XX=24109;gnomADv4_1_nhomalt_joint_XY=22769;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27779174 chr22_27779174_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.601;CADD_Rawscore=-0.147233;CSQ=T|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+17589G>A|||||||rs2073780||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27779174C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+17589G>A|||||||rs2073780||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27779174C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+12573G>A|||||||rs2073780||-1||HGNC|HGNC:7180|1||||||||Ensembl||C|C||1||chr22:g.27779174C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+15949G>A|||||||rs2073780||-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27779174C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs2073780|1354|-1||||||||||||Ensembl||C|C||||chr22:g.27779174C>T|||||||||||||,T|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+17589G>A|||||||rs2073780||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27779174C>T|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|MN1|0.00|0.00|0.10|0.00|31|-49|-1|46;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=52680;gnomADv4_1_AC_joint_XX=26399;gnomADv4_1_AC_joint_XY=26281;gnomADv4_1_AF_grpmax_joint=0.445648;gnomADv4_1_AF_joint=0.346656;gnomADv4_1_AF_joint_XX=0.339782;gnomADv4_1_AF_joint_XY=0.353848;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=151966;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9423;gnomADv4_1_nhomalt_joint_XX=4619;gnomADv4_1_nhomalt_joint_XY=4804;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27779753 chr22_27779753_G_A G A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.573;CADD_Rawscore=-0.159149;CSQ=A|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+17010C>T|||||||rs402048||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27779753G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+17010C>T|||||||rs402048||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27779753G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+11994C>T|||||||rs402048||-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27779753G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+15370C>T|||||||rs402048||-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27779753G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs402048|775|-1||||||||||||Ensembl||G|G||||chr22:g.27779753G>A|||||||||||||,A|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+17010C>T|||||||rs402048||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27779753G>A|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|MN1|0.00|0.00|0.00|0.00|-17|38|16|38;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=62986;gnomADv4_1_AC_joint_XX=31670;gnomADv4_1_AC_joint_XY=31316;gnomADv4_1_AF_grpmax_joint=0.568376;gnomADv4_1_AF_joint=0.414333;gnomADv4_1_AF_joint_XX=0.407509;gnomADv4_1_AF_joint_XY=0.421469;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13323;gnomADv4_1_nhomalt_joint_XX=6592;gnomADv4_1_nhomalt_joint_XY=6731;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27782213 chr22_27782213_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=6.162;CADD_Rawscore=0.569676;CSQ=T|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+14550G>A|||||||rs2267118||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27782213C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+14550G>A|||||||rs2267118||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27782213C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+9534G>A|||||||rs2267118||-1||HGNC|HGNC:7180|1||||||||Ensembl||C|C||1||chr22:g.27782213C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+12910G>A|||||||rs2267118||-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27782213C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA|1/2||ENST00000778729.1:n.65G>A||65|||||rs2267118||-1||||||||||||Ensembl||C|C||||chr22:g.27782213C>T|||||||||||||,T|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+14550G>A|||||||rs2267118||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27782213C>T|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|MN1|0.00|0.00|0.00|0.00|-2|-11|-2|-44;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=4807;gnomADv4_1_AC_joint_XX=2219;gnomADv4_1_AC_joint_XY=2588;gnomADv4_1_AF_grpmax_joint=0.237607;gnomADv4_1_AF_joint=0.0315698;gnomADv4_1_AF_joint_XX=0.0285145;gnomADv4_1_AF_joint_XY=0.0347635;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152266;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=261;gnomADv4_1_nhomalt_joint_XX=117;gnomADv4_1_nhomalt_joint_XY=144;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27782299 chr22_27782299_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.448;CADD_Rawscore=-0.220633;CSQ=T|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+14464G>A|||||||rs113343126||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27782299C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+14464G>A|||||||rs113343126||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27782299C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+9448G>A|||||||rs113343126||-1||HGNC|HGNC:7180|1||||||||Ensembl||C|C||1||chr22:g.27782299C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+12824G>A|||||||rs113343126||-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27782299C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs113343126|22|-1||||||||||||Ensembl||C|C||||chr22:g.27782299C>T|||||||||||||,T|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+14464G>A|||||||rs113343126||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27782299C>T|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|MN1|0.00|0.00|0.00|0.00|-14|-26|43|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=11;gnomADv4_1_AC_joint_XX=7;gnomADv4_1_AC_joint_XY=4;gnomADv4_1_AF_grpmax_joint=8.81834e-05;gnomADv4_1_AF_joint=7.22809e-05;gnomADv4_1_AF_joint_XX=8.99234e-05;gnomADv4_1_AF_joint_XY=5.38068e-05;gnomADv4_1_AN_grpmax_joint=68040;gnomADv4_1_AN_joint=152184;gnomADv4_1_AN_joint_XX=77844;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27783247 chr22_27783247_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=3.689;CADD_Rawscore=0.337633;CSQ=A|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+13516C>T|||||||rs5762352||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27783247G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+13516C>T|||||||rs5762352||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27783247G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+8500C>T|||||||rs5762352||-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27783247G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+11876C>T|||||||rs5762352||-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27783247G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs5762352|970|-1||||||||||||Ensembl||G|G||||chr22:g.27783247G>A|||||||||||||,A|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+13516C>T|||||||rs5762352||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27783247G>A|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|MN1|0.00|0.00|0.00|0.00|-6|18|2|-24;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=4860;gnomADv4_1_AC_joint_XX=2251;gnomADv4_1_AC_joint_XY=2609;gnomADv4_1_AF_grpmax_joint=0.241771;gnomADv4_1_AF_joint=0.0321454;gnomADv4_1_AF_joint_XX=0.0290707;gnomADv4_1_AF_joint_XY=0.0353734;gnomADv4_1_AN_grpmax_joint=5104;gnomADv4_1_AN_joint=151188;gnomADv4_1_AN_joint_XX=77432;gnomADv4_1_AN_joint_XY=73756;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=267;gnomADv4_1_nhomalt_joint_XX=122;gnomADv4_1_nhomalt_joint_XY=145;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27783835 chr22_27783835_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.159;CADD_Rawscore=0.020609;CSQ=C|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+12928A>G|||||||rs1297595||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27783835T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+12928A>G|||||||rs1297595||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27783835T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+7912A>G|||||||rs1297595||-1||HGNC|HGNC:7180|1||||||||Ensembl||T|T||1||chr22:g.27783835T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+11288A>G|||||||rs1297595||-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27783835T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs1297595|1558|-1||||||||||||Ensembl||T|T||||chr22:g.27783835T>C|||||||||||||,C|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+12928A>G|||||||rs1297595||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27783835T>C|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|MN1|0.00|0.00|0.00|0.00|-40|27|1|-42;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=121293;gnomADv4_1_AC_joint_XX=62092;gnomADv4_1_AC_joint_XY=59201;gnomADv4_1_AF_grpmax_joint=0.907727;gnomADv4_1_AF_joint=0.79712;gnomADv4_1_AF_joint_XX=0.798385;gnomADv4_1_AF_joint_XY=0.795798;gnomADv4_1_AN_grpmax_joint=41540;gnomADv4_1_AN_joint=152164;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=48790;gnomADv4_1_nhomalt_joint_XX=25063;gnomADv4_1_nhomalt_joint_XY=23727;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27784527 chr22_27784527_CTAAAGTT_C CTAAAGTT C 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=20.5;CADDIndel_Rawscore=2.83324;CSQ=-|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+12229_3781+12235del|||||||rs139838361||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||TAAAGTT|TAAAGTT||1||chr22:g.27784532_27784538del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+12229_134+12235del|||||||rs139838361||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||TAAAGTT|TAAAGTT||1||chr22:g.27784532_27784538del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+7213_137+7219del|||||||rs139838361||-1||HGNC|HGNC:7180|1||||||||Ensembl||TAAAGTT|TAAAGTT||1||chr22:g.27784532_27784538del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+10589_306+10595del|||||||rs139838361||-1||HGNC|HGNC:7180|||||||||Ensembl||TAAAGTT|TAAAGTT||1||chr22:g.27784532_27784538del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs139838361|2251|-1||||||||||||Ensembl||TAAAGTT|TAAAGTT||||chr22:g.27784532_27784538del|||||||||||||,-|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+12229_3781+12235del|||||||rs139838361||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||TAAAGTT|TAAAGTT||||chr22:g.27784532_27784538del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=9426;gnomADv4_1_AC_joint_XX=4922;gnomADv4_1_AC_joint_XY=4504;gnomADv4_1_AF_grpmax_joint=0.0901094;gnomADv4_1_AF_joint=0.0619439;gnomADv4_1_AF_joint_XX=0.0632745;gnomADv4_1_AF_joint_XY=0.0605523;gnomADv4_1_AN_grpmax_joint=67984;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=371;gnomADv4_1_nhomalt_joint_XX=218;gnomADv4_1_nhomalt_joint_XY=153;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27785056 chr22_27785056_CCACACA_C;chr22_27785056_C_CCACACACACA;chr22_27785056_C_CCACA;chr22_27785056_CCACA_C CCACA C 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADDIndel_PHREDscore=12.48;CADDIndel_Rawscore=1.23887;CSQ=-|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+11703_3781+11706del|||||||rs57257445||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||CACA|CACA||1||chr22:g.27785094_27785097del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+11703_134+11706del|||||||rs57257445||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||CACA|CACA||1||chr22:g.27785094_27785097del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+6687_137+6690del|||||||rs57257445||-1||HGNC|HGNC:7180|1||||||||Ensembl||CACA|CACA||1||chr22:g.27785094_27785097del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+10063_306+10066del|||||||rs57257445||-1||HGNC|HGNC:7180|||||||||Ensembl||CACA|CACA||1||chr22:g.27785094_27785097del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs57257445|2780|-1||||||||||||Ensembl||CACA|CACA||||chr22:g.27785094_27785097del|||||||||||||,-|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+11703_3781+11706del|||||||rs57257445||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||CACA|CACA||||chr22:g.27785094_27785097del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7HTS|enhancer||||||||||rs57257445|||||||||||||||||||||chr22:g.27785094_27785097del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|MN1|0.00|0.00|0.00|0.00|-11|-28|24|42;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3,ENSR22_B7HTS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330,.;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42616;gnomADv4_1_AC_joint_XX=21962;gnomADv4_1_AC_joint_XY=20654;gnomADv4_1_AF_grpmax_joint=0.353131;gnomADv4_1_AF_joint=0.294525;gnomADv4_1_AF_joint_XX=0.294152;gnomADv4_1_AF_joint_XY=0.294922;gnomADv4_1_AN_grpmax_joint=66474;gnomADv4_1_AN_joint=144694;gnomADv4_1_AN_joint_XX=74662;gnomADv4_1_AN_joint_XY=70032;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6626;gnomADv4_1_nhomalt_joint_XX=3437;gnomADv4_1_nhomalt_joint_XY=3189;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27785056 chr22_27785056_CCACACA_C;chr22_27785056_C_CCACACACACA;chr22_27785056_C_CCACA;chr22_27785056_CCACA_C CCACACA C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=12.26;CADDIndel_Rawscore=1.20915;CSQ=-|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+11701_3781+11706del|||||||rs57257445||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||CACACA|CACACA||1||chr22:g.27785092_27785097del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+11701_134+11706del|||||||rs57257445||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||CACACA|CACACA||1||chr22:g.27785092_27785097del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+6685_137+6690del|||||||rs57257445||-1||HGNC|HGNC:7180|1||||||||Ensembl||CACACA|CACACA||1||chr22:g.27785092_27785097del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+10061_306+10066del|||||||rs57257445||-1||HGNC|HGNC:7180|||||||||Ensembl||CACACA|CACACA||1||chr22:g.27785092_27785097del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs57257445|2780|-1||||||||||||Ensembl||CACACA|CACACA||||chr22:g.27785092_27785097del|||||||||||||,-|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+11701_3781+11706del|||||||rs57257445||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||CACACA|CACACA||||chr22:g.27785092_27785097del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7HTS|enhancer||||||||||rs57257445|||||||||||||||||||||chr22:g.27785092_27785097del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3,ENSR22_B7HTS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330,.;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21979;gnomADv4_1_AC_joint_XX=11159;gnomADv4_1_AC_joint_XY=10820;gnomADv4_1_AF_grpmax_joint=0.176236;gnomADv4_1_AF_joint=0.151852;gnomADv4_1_AF_joint_XX=0.149376;gnomADv4_1_AF_joint_XY=0.154492;gnomADv4_1_AN_grpmax_joint=66496;gnomADv4_1_AN_joint=144740;gnomADv4_1_AN_joint_XX=74704;gnomADv4_1_AN_joint_XY=70036;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1712;gnomADv4_1_nhomalt_joint_XX=850;gnomADv4_1_nhomalt_joint_XY=862;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27785056 chr22_27785056_CCACACA_C;chr22_27785056_C_CCACACACACA;chr22_27785056_C_CCACA;chr22_27785056_CCACA_C C CCACACACACA 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=0.928;CADDIndel_Rawscore=-0.037062;CSQ=CACACACACA|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+11697_3781+11706dup|||||||rs57257445||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl|||||1||chr22:g.27785088_27785097dup|||||||||||||,CACACACACA|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+11697_134+11706dup|||||||rs57257445||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl|||||1||chr22:g.27785088_27785097dup|||||||||||||,CACACACACA|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+6681_137+6690dup|||||||rs57257445||-1||HGNC|HGNC:7180|1||||||||Ensembl|||||1||chr22:g.27785088_27785097dup|||||||||||||,CACACACACA|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+10057_306+10066dup|||||||rs57257445||-1||HGNC|HGNC:7180|||||||||Ensembl|||||1||chr22:g.27785088_27785097dup|||||||||||||,CACACACACA|upstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs57257445|2779|-1||||||||||||Ensembl|||||||chr22:g.27785088_27785097dup|||||||||||||,CACACACACA|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+11697_3781+11706dup|||||||rs57257445||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq|||||||chr22:g.27785088_27785097dup|||||||||||||,CACACACACA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7HTS|enhancer||||||||||rs57257445|||||||||||||||||||||chr22:g.27785088_27785097dup|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=CACACACACA,CACACACACA,CACACACACA,CACACACACA,CACACACACA,CACACACACA,CACACACACA;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3,ENSR22_B7HTS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330,.;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2918;gnomADv4_1_AC_joint_XX=1462;gnomADv4_1_AC_joint_XY=1456;gnomADv4_1_AF_grpmax_joint=0.0924474;gnomADv4_1_AF_joint=0.0201433;gnomADv4_1_AF_joint_XX=0.0195575;gnomADv4_1_AF_joint_XY=0.020768;gnomADv4_1_AN_grpmax_joint=4846;gnomADv4_1_AN_joint=144862;gnomADv4_1_AN_joint_XX=74754;gnomADv4_1_AN_joint_XY=70108;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=79;gnomADv4_1_nhomalt_joint_XX=34;gnomADv4_1_nhomalt_joint_XY=45;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27785056 chr22_27785056_CCACACA_C;chr22_27785056_C_CCACACACACA;chr22_27785056_C_CCACA;chr22_27785056_CCACA_C C CCACA 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.999;CADDIndel_Rawscore=-0.017946;CSQ=CACA|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+11703_3781+11706dup|||||||rs57257445||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl|||||1||chr22:g.27785094_27785097dup|||||||||||||,CACA|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+11703_134+11706dup|||||||rs57257445||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl|||||1||chr22:g.27785094_27785097dup|||||||||||||,CACA|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+6687_137+6690dup|||||||rs57257445||-1||HGNC|HGNC:7180|1||||||||Ensembl|||||1||chr22:g.27785094_27785097dup|||||||||||||,CACA|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+10063_306+10066dup|||||||rs57257445||-1||HGNC|HGNC:7180|||||||||Ensembl|||||1||chr22:g.27785094_27785097dup|||||||||||||,CACA|upstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs57257445|2779|-1||||||||||||Ensembl|||||||chr22:g.27785094_27785097dup|||||||||||||,CACA|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+11703_3781+11706dup|||||||rs57257445||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq|||||||chr22:g.27785094_27785097dup|||||||||||||,CACA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7HTS|enhancer||||||||||rs57257445|||||||||||||||||||||chr22:g.27785094_27785097dup|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=CACA,CACA,CACA,CACA,CACA,CACA,CACA;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3,ENSR22_B7HTS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330,.;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10798;gnomADv4_1_AC_joint_XX=5708;gnomADv4_1_AC_joint_XY=5090;gnomADv4_1_AF_grpmax_joint=0.106369;gnomADv4_1_AF_joint=0.0745832;gnomADv4_1_AF_joint_XX=0.0764062;gnomADv4_1_AF_joint_XY=0.0726396;gnomADv4_1_AN_grpmax_joint=38376;gnomADv4_1_AN_joint=144778;gnomADv4_1_AN_joint_XX=74706;gnomADv4_1_AN_joint_XY=70072;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=429;gnomADv4_1_nhomalt_joint_XX=220;gnomADv4_1_nhomalt_joint_XY=209;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27785411 chr22_27785411_C_T C T 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=3.37;CADD_Rawscore=0.308976;CSQ=T|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+11352G>A|||||||rs2283847||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27785411C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+11352G>A|||||||rs2283847||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27785411C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+6336G>A|||||||rs2283847||-1||HGNC|HGNC:7180|1||||||||Ensembl||C|C||1||chr22:g.27785411C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+9712G>A|||||||rs2283847||-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27785411C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs2283847|3134|-1||||||||||||Ensembl||C|C||||chr22:g.27785411C>T|||1||||||||||,T|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+11352G>A|||||||rs2283847||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27785411C>T|||1||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7HTS|enhancer||||||||||rs2283847|||||||||||||||||||||chr22:g.27785411C>T|||1||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|MN1|0.00|0.00|0.00|0.00|-2|33|3|10;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3,ENSR22_B7HTS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330,.;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73913;gnomADv4_1_AC_joint_XX=37533;gnomADv4_1_AC_joint_XY=36380;gnomADv4_1_AF_grpmax_joint=0.561386;gnomADv4_1_AF_joint=0.485752;gnomADv4_1_AF_joint_XX=0.482615;gnomADv4_1_AF_joint_XY=0.489031;gnomADv4_1_AN_grpmax_joint=67996;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=18800;gnomADv4_1_nhomalt_joint_XX=9503;gnomADv4_1_nhomalt_joint_XY=9297;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27785448 chr22_27785448_A_C A C 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=18.76;CADD_Rawscore=2.4459;CSQ=C|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+11315T>G|||||||rs382819||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||A|A||1||chr22:g.27785448A>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+11315T>G|||||||rs382819||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||A|A||1||chr22:g.27785448A>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+6299T>G|||||||rs382819||-1||HGNC|HGNC:7180|1||||||||Ensembl||A|A||1||chr22:g.27785448A>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+9675T>G|||||||rs382819||-1||HGNC|HGNC:7180|||||||||Ensembl||A|A||1||chr22:g.27785448A>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs382819|3171|-1||||||||||||Ensembl||A|A||||chr22:g.27785448A>C|||1||||||||||,C|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+11315T>G|||||||rs382819||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||A|A||||chr22:g.27785448A>C|||1||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7HTS|enhancer||||||||||rs382819|||||||||||||||||||||chr22:g.27785448A>C|||1||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|MN1|0.00|0.00|0.00|0.00|17|-4|-27|13;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3,ENSR22_B7HTS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330,.;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=115643;gnomADv4_1_AC_joint_XX=59075;gnomADv4_1_AC_joint_XY=56568;gnomADv4_1_AF_grpmax_joint=0.833831;gnomADv4_1_AF_joint=0.7597;gnomADv4_1_AF_joint_XX=0.759319;gnomADv4_1_AF_joint_XY=0.760098;gnomADv4_1_AN_grpmax_joint=41542;gnomADv4_1_AN_joint=152222;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=44213;gnomADv4_1_nhomalt_joint_XX=22589;gnomADv4_1_nhomalt_joint_XY=21624;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27785746 chr22_27785746_GC_G GC G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=12.67;CADDIndel_Rawscore=1.26532;CSQ=-|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+11016del|||||||rs35117962||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27785756del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+11016del|||||||rs35117962||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27785756del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+6000del|||||||rs35117962||-1||HGNC|HGNC:7180|1||||||||Ensembl||C|C||1||chr22:g.27785756del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+9376del|||||||rs35117962||-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27785756del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000301405|Transcript|ENST00000778729|lncRNA||||||||||rs35117962|3470|-1||||||||||||Ensembl||C|C||||chr22:g.27785756del|||||||||||||,-|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+11016del|||||||rs35117962||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27785756del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|-42|-21|31|46;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,ENST00000778729,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000301405,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=22812;gnomADv4_1_AC_joint_XX=11870;gnomADv4_1_AC_joint_XY=10942;gnomADv4_1_AF_grpmax_joint=0.242754;gnomADv4_1_AF_joint=0.168715;gnomADv4_1_AF_joint_XX=0.171156;gnomADv4_1_AF_joint_XY=0.166145;gnomADv4_1_AN_grpmax_joint=276;gnomADv4_1_AN_joint=135210;gnomADv4_1_AN_joint_XX=69352;gnomADv4_1_AN_joint_XY=65858;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1946;gnomADv4_1_nhomalt_joint_XX=1062;gnomADv4_1_nhomalt_joint_XY=884;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27789464 chr22_27789464_T_G T G 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.02;CADD_Rawscore=-1.05558;CSQ=G|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+7299A>C|||||||rs12166473||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27789464T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+7299A>C|||||||rs12166473||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27789464T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||1/1|ENST00000497225.1:n.137+2283A>C|||||||rs12166473||-1||HGNC|HGNC:7180|1||||||||Ensembl||T|T||1||chr22:g.27789464T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+5659A>C|||||||rs12166473||-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27789464T>G|||||||||||||,G|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+7299A>C|||||||rs12166473||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27789464T>G|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|-5|37|19|-41;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=29646;gnomADv4_1_AC_joint_XX=15423;gnomADv4_1_AC_joint_XY=14223;gnomADv4_1_AF_grpmax_joint=0.278912;gnomADv4_1_AF_joint=0.195237;gnomADv4_1_AF_joint_XX=0.198617;gnomADv4_1_AF_joint_XY=0.1917;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151846;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74194;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3325;gnomADv4_1_nhomalt_joint_XX=1818;gnomADv4_1_nhomalt_joint_XY=1507;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27792317 chr22_27792317_CATATAT_C;chr22_27792317_CATATATATAT_C;chr22_27792317_C_CATAT CATATAT C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.309;CADDIndel_Rawscore=-0.314399;CSQ=-|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+4440_3781+4445del|||||||rs36207111||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||ATATAT|ATATAT||1||chr22:g.27792346_27792351del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+4440_134+4445del|||||||rs36207111||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||ATATAT|ATATAT||1||chr22:g.27792346_27792351del|||||||||||||,-|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||||||||||rs36207111|435|-1||HGNC|HGNC:7180|1||||||||Ensembl||ATATAT|ATATAT||1||chr22:g.27792346_27792351del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+2800_306+2805del|||||||rs36207111||-1||HGNC|HGNC:7180|||||||||Ensembl||ATATAT|ATATAT||1||chr22:g.27792346_27792351del|||||||||||||,-|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+4440_3781+4445del|||||||rs36207111||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||ATATAT|ATATAT||||chr22:g.27792346_27792351del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=14230;gnomADv4_1_AC_joint_XX=7286;gnomADv4_1_AC_joint_XY=6944;gnomADv4_1_AF_grpmax_joint=0.218045;gnomADv4_1_AF_joint=0.124888;gnomADv4_1_AF_joint_XX=0.120168;gnomADv4_1_AF_joint_XY=0.130257;gnomADv4_1_AN_grpmax_joint=4522;gnomADv4_1_AN_joint=113942;gnomADv4_1_AN_joint_XX=60632;gnomADv4_1_AN_joint_XY=53310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=926;gnomADv4_1_nhomalt_joint_XX=469;gnomADv4_1_nhomalt_joint_XY=457;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27792317 chr22_27792317_CATATAT_C;chr22_27792317_CATATATATAT_C;chr22_27792317_C_CATAT CATATATATAT C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=0.642;CADDIndel_Rawscore=-0.130827;CSQ=-|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+4436_3781+4445del|||||||rs36207111||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||ATATATATAT|ATATATATAT||1||chr22:g.27792342_27792351del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+4436_134+4445del|||||||rs36207111||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||ATATATATAT|ATATATATAT||1||chr22:g.27792342_27792351del|||||||||||||,-|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||||||||||rs36207111|435|-1||HGNC|HGNC:7180|1||||||||Ensembl||ATATATATAT|ATATATATAT||1||chr22:g.27792342_27792351del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+2796_306+2805del|||||||rs36207111||-1||HGNC|HGNC:7180|||||||||Ensembl||ATATATATAT|ATATATATAT||1||chr22:g.27792342_27792351del|||||||||||||,-|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+4436_3781+4445del|||||||rs36207111||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||ATATATATAT|ATATATATAT||||chr22:g.27792342_27792351del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=10225;gnomADv4_1_AC_joint_XX=5362;gnomADv4_1_AC_joint_XY=4863;gnomADv4_1_AF_grpmax_joint=0.216771;gnomADv4_1_AF_joint=0.0896804;gnomADv4_1_AF_joint_XX=0.0883943;gnomADv4_1_AF_joint_XY=0.0911425;gnomADv4_1_AN_grpmax_joint=34082;gnomADv4_1_AN_joint=114016;gnomADv4_1_AN_joint_XX=60660;gnomADv4_1_AN_joint_XY=53356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=821;gnomADv4_1_nhomalt_joint_XX=407;gnomADv4_1_nhomalt_joint_XY=414;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27792317 chr22_27792317_CATATAT_C;chr22_27792317_CATATATATAT_C;chr22_27792317_C_CATAT C CATAT 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADDIndel_PHREDscore=0.538;CADDIndel_Rawscore=-0.174971;CSQ=ATAT|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+4442_3781+4445dup|||||||rs36207111||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl|||||1||chr22:g.27792348_27792351dup|||||||||||||,ATAT|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+4442_134+4445dup|||||||rs36207111||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl|||||1||chr22:g.27792348_27792351dup|||||||||||||,ATAT|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||||||||||rs36207111|434|-1||HGNC|HGNC:7180|1||||||||Ensembl|||||1||chr22:g.27792348_27792351dup|||||||||||||,ATAT|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+2802_306+2805dup|||||||rs36207111||-1||HGNC|HGNC:7180|||||||||Ensembl|||||1||chr22:g.27792348_27792351dup|||||||||||||,ATAT|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+4442_3781+4445dup|||||||rs36207111||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq|||||||chr22:g.27792348_27792351dup|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=ATAT,ATAT,ATAT,ATAT,ATAT;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=6046;gnomADv4_1_AC_joint_XX=3377;gnomADv4_1_AC_joint_XY=2669;gnomADv4_1_AF_grpmax_joint=0.0752425;gnomADv4_1_AF_joint=0.0532097;gnomADv4_1_AF_joint_XX=0.0558717;gnomADv4_1_AF_joint_XY=0.0501843;gnomADv4_1_AN_grpmax_joint=52364;gnomADv4_1_AN_joint=113626;gnomADv4_1_AN_joint_XX=60442;gnomADv4_1_AN_joint_XY=53184;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=177;gnomADv4_1_nhomalt_joint_XX=97;gnomADv4_1_nhomalt_joint_XY=80;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27794813 chr22_27794813_TG_T TG T 42 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.266;CADDIndel_Rawscore=-0.353145;CSQ=-|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+1949del|||||||rs111772299||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27794814del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+1949del|||||||rs111772299||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27794814del|||||||||||||,-|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||||||||||rs111772299|2931|-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27794814del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+309del|||||||rs111772299||-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27794814del|||||||||||||,-|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+1949del|||||||rs111772299||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27794814del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|MN1|0.00|0.00|0.00|0.00|31|-27|-33|31;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=59981;gnomADv4_1_AC_joint_XX=30585;gnomADv4_1_AC_joint_XY=29396;gnomADv4_1_AF_grpmax_joint=0.662985;gnomADv4_1_AF_joint=0.470875;gnomADv4_1_AF_joint_XX=0.469686;gnomADv4_1_AF_joint_XY=0.472119;gnomADv4_1_AN_grpmax_joint=4798;gnomADv4_1_AN_joint=127382;gnomADv4_1_AN_joint_XX=65118;gnomADv4_1_AN_joint_XY=62264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13722;gnomADv4_1_nhomalt_joint_XX=7064;gnomADv4_1_nhomalt_joint_XY=6658;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27794817 chr22_27794817_G_T;chr22_27794817_GT_G GT G 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=32;CADDIndel_PHREDscore=0.433;CADDIndel_Rawscore=-0.229188;CSQ=-|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+1945del|||||||rs71194737||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27794831del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+1945del|||||||rs71194737||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27794831del|||||||||||||,-|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||||||||||rs71194737|2935|-1||HGNC|HGNC:7180|1||||||||Ensembl||T|T||1||chr22:g.27794831del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+305del|||||||rs71194737||-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27794831del|||||||||||||,-|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+1945del|||||||rs71194737||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27794831del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|27|-19|-37|27;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=27542;gnomADv4_1_AC_joint_XX=14534;gnomADv4_1_AC_joint_XY=13008;gnomADv4_1_AF_grpmax_joint=0.336283;gnomADv4_1_AF_joint=0.214075;gnomADv4_1_AF_joint_XX=0.21956;gnomADv4_1_AF_joint_XY=0.208261;gnomADv4_1_AN_grpmax_joint=226;gnomADv4_1_AN_joint=128656;gnomADv4_1_AN_joint_XX=66196;gnomADv4_1_AN_joint_XY=62460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2825;gnomADv4_1_nhomalt_joint_XX=1572;gnomADv4_1_nhomalt_joint_XY=1253;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27794817 chr22_27794817_G_T;chr22_27794817_GT_G G T 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADD_PHREDscore=1.328;CADD_Rawscore=0.056196;CSQ=T|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+1946C>A|||||||rs35821058||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27794817G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+1946C>A|||||||rs35821058||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27794817G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||||||||||rs35821058|2934|-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27794817G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+306C>A|||||||rs35821058||-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27794817G>T|||||||||||||,T|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+1946C>A|||||||rs35821058||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27794817G>T|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|MN1|0.00|0.00|0.00|0.00|39|-31|3|27;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=61911;gnomADv4_1_AC_joint_XX=31619;gnomADv4_1_AC_joint_XY=30292;gnomADv4_1_AF_grpmax_joint=0.686365;gnomADv4_1_AF_joint=0.480407;gnomADv4_1_AF_joint_XX=0.476865;gnomADv4_1_AF_joint_XY=0.484161;gnomADv4_1_AN_grpmax_joint=39530;gnomADv4_1_AN_joint=128872;gnomADv4_1_AN_joint_XX=66306;gnomADv4_1_AN_joint_XY=62566;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=14962;gnomADv4_1_nhomalt_joint_XX=7707;gnomADv4_1_nhomalt_joint_XY=7255;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27794821 chr22_27794821_T_G T G 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.454;CADD_Rawscore=0.079848;CSQ=G|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+1942A>C|||||||rs2880841||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||T|T||1||chr22:g.27794821T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+1942A>C|||||||rs2880841||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||T|T||1||chr22:g.27794821T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||||||||||rs2880841|2938|-1||HGNC|HGNC:7180|1||||||||Ensembl||T|T||1||chr22:g.27794821T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||1/1|ENST00000703102.1:n.306+302A>C|||||||rs2880841||-1||HGNC|HGNC:7180|||||||||Ensembl||T|T||1||chr22:g.27794821T>G|||||||||||||,G|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+1942A>C|||||||rs2880841||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||T|T||||chr22:g.27794821T>G|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|50|23|23|-41;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=88421;gnomADv4_1_AC_joint_XX=45193;gnomADv4_1_AC_joint_XY=43228;gnomADv4_1_AF_grpmax_joint=0.731951;gnomADv4_1_AF_joint=0.591002;gnomADv4_1_AF_joint_XX=0.58931;gnomADv4_1_AF_joint_XY=0.592782;gnomADv4_1_AN_grpmax_joint=5014;gnomADv4_1_AN_joint=149612;gnomADv4_1_AN_joint_XX=76688;gnomADv4_1_AN_joint_XY=72924;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=26577;gnomADv4_1_nhomalt_joint_XX=13599;gnomADv4_1_nhomalt_joint_XY=12978;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27795722 chr22_27795722_T_TAC T TAC 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=1.226;CADDIndel_Rawscore=0.035195;CSQ=AC|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+1039_3781+1040dup|||||||rs138609901||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl|||||1||chr22:g.27795739_27795740dup|||||||||||||,AC|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+1039_134+1040dup|||||||rs138609901||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl|||||1||chr22:g.27795739_27795740dup|||||||||||||,AC|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||||||||||rs138609901|3839|-1||HGNC|HGNC:7180|1||||||||Ensembl|||||1||chr22:g.27795739_27795740dup|||||||||||||,AC|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs138609901|294|-1||HGNC|HGNC:7180|||||||||Ensembl|||||1||chr22:g.27795739_27795740dup|||||||||||||,AC|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+1039_3781+1040dup|||||||rs138609901||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq|||||||chr22:g.27795739_27795740dup|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=AC,AC,AC,AC,AC;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=36581;gnomADv4_1_AC_joint_XX=18979;gnomADv4_1_AC_joint_XY=17602;gnomADv4_1_AF_grpmax_joint=0.302083;gnomADv4_1_AF_joint=0.243024;gnomADv4_1_AF_joint_XX=0.246327;gnomADv4_1_AF_joint_XY=0.239561;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=150524;gnomADv4_1_AN_joint_XX=77048;gnomADv4_1_AN_joint_XY=73476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4527;gnomADv4_1_nhomalt_joint_XX=2344;gnomADv4_1_nhomalt_joint_XY=2183;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27795724 chr22_27795724_C_T C T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.042;CADD_Rawscore=-0.847615;CSQ=T|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+1039G>A|||||||rs6005624||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27795724C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+1039G>A|||||||rs6005624||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27795724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||||||||||rs6005624|3841|-1||HGNC|HGNC:7180|1||||||||Ensembl||C|C||1||chr22:g.27795724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs6005624|296|-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27795724C>T|||||||||||||,T|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+1039G>A|||||||rs6005624||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27795724C>T|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|MN1|0.00|0.00|0.00|0.00|-12|19|7|-23;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=13865;gnomADv4_1_AC_joint_XX=7268;gnomADv4_1_AC_joint_XY=6597;gnomADv4_1_AF_grpmax_joint=0.188926;gnomADv4_1_AF_joint=0.0967119;gnomADv4_1_AF_joint_XX=0.0992056;gnomADv4_1_AF_joint_XY=0.0941057;gnomADv4_1_AN_grpmax_joint=35056;gnomADv4_1_AN_joint=143364;gnomADv4_1_AN_joint_XX=73262;gnomADv4_1_AN_joint_XY=70102;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=743;gnomADv4_1_nhomalt_joint_XX=403;gnomADv4_1_nhomalt_joint_XY=340;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27795907 chr22_27795907_G_T G T 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=10.35;CADD_Rawscore=1.00171;CSQ=T|intron_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||1/1|ENST00000302326.5:c.3781+856C>A|||||||rs45571543||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||G|G||1||chr22:g.27795907G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||1/2|ENST00000424656.1:c.134+856C>A|||||||rs45571543||-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||G|G||1||chr22:g.27795907G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000497225|protein_coding_CDS_not_defined||||||||||rs45571543|4024|-1||HGNC|HGNC:7180|1||||||||Ensembl||G|G||1||chr22:g.27795907G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs45571543|479|-1||HGNC|HGNC:7180|||||||||Ensembl||G|G||1||chr22:g.27795907G>T|||||||||||||,T|intron_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||1/1|NM_002430.3:c.3781+856C>A|||||||rs45571543||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||G|G||||chr22:g.27795907G>T|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|MN1|0.00|0.00|0.00|0.00|38|-12|-28|46;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000497225,ENST00000703102,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000169184,4330;VEP_SYMBOL=MN1,MN1,MN1,MN1,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=11859;gnomADv4_1_AC_joint_XX=6047;gnomADv4_1_AC_joint_XY=5812;gnomADv4_1_AF_grpmax_joint=0.166667;gnomADv4_1_AF_joint=0.0780588;gnomADv4_1_AF_joint_XX=0.077843;gnomADv4_1_AF_joint_XY=0.0782845;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151924;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=556;gnomADv4_1_nhomalt_joint_XX=287;gnomADv4_1_nhomalt_joint_XY=269;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27798906 chr22_27798906_CTGCTGT_C CTGCTGT C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=4.573;CADDIndel_Rawscore=0.416547;CSQ=-|inframe_deletion|MODERATE|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding|1/2||ENST00000302326.5:c.1632_1637del|ENSP00000304956.4:p.Gln549_Gln550del|2845-2850|1632-1637|544-546|QQQ/Q|caACAGCAg/cag|rs202212250||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||TGCTGT|TGCTGT||1||chr22:g.27798924_27798929del|||||||||||||,-|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||||||||||rs202212250|2011|-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||TGCTGT|TGCTGT||1||chr22:g.27798924_27798929del|||||||||||||,-|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs202212250|3479|-1||HGNC|HGNC:7180|||||||||Ensembl||TGCTGT|TGCTGT||1||chr22:g.27798924_27798929del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000299103|Transcript|ENST00000760484|lncRNA||||||||||rs202212250|2864|-1||||||||||||Ensembl||TGCTGT|TGCTGT||||chr22:g.27798924_27798929del|||||||||||||,-|inframe_deletion|MODERATE|MN1|4330|Transcript|NM_002430.3|protein_coding|1/2||NM_002430.3:c.1632_1637del|NP_002421.3:p.Gln549_Gln550del|2845-2850|1632-1637|544-546|QQQ/Q|caACAGCAg/cag|rs202212250||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||TGCTGT|TGCTGT||||chr22:g.27798924_27798929del|||||||||||||;ClinVar_CLNDN=.;ClinVar_CLNHGVS=.;ClinVar_CLNSIG=.;ClinVar_GENEINFO=.;ClinVar_Variation_ID=3771184;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000703102,ENST00000760484,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000299103,4330;VEP_SYMBOL=MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=49026;gnomADv4_1_AC_joint_XX=24850;gnomADv4_1_AC_joint_XY=24176;gnomADv4_1_AF_grpmax_joint=0.0534442;gnomADv4_1_AF_joint=0.0316943;gnomADv4_1_AF_joint_XX=0.0317462;gnomADv4_1_AF_joint_XY=0.0316412;gnomADv4_1_AN_grpmax_joint=5894;gnomADv4_1_AN_joint=1546840;gnomADv4_1_AN_joint_XX=782772;gnomADv4_1_AN_joint_XY=764068;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=871;gnomADv4_1_nhomalt_joint_XX=459;gnomADv4_1_nhomalt_joint_XY=412;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27799398 chr22_27799398_C_A C A 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;AlphaMissense_class=ambiguous;AlphaMissense_pathogenicity=0.3424;AlphaMissense_protein_variant=Q382H;AlphaMissense_transcript_id=ENST00000302326.5;AlphaMissense_uniprot_id=Q10571;CADD_PHREDscore=23.4;CADD_Rawscore=3.76035;CSQ=A|missense_variant|MODERATE|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding|1/2||ENST00000302326.5:c.1146G>T|ENSP00000304956.4:p.Gln382His|2359|1146|382|Q/H|caG/caT|rs45589338||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27799398C>A|likely_benign||1||||||||||,A|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||||||||||rs45589338|2502|-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27799398C>A|likely_benign||1||||||||||,A|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs45589338|3970|-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27799398C>A|likely_benign||1||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000299103|Transcript|ENST00000760484|lncRNA||||||||||rs45589338|2378|-1||||||||||||Ensembl||C|C||||chr22:g.27799398C>A|likely_benign||1||||||||||,A|missense_variant|MODERATE|MN1|4330|Transcript|NM_002430.3|protein_coding|1/2||NM_002430.3:c.1146G>T|NP_002421.3:p.Gln382His|2359|1146|382|Q/H|caG/caT|rs45589338||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27799398C>A|likely_benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.27799398C>A;ClinVar_CLNSIG=Likely_benign;ClinVar_GENEINFO=MN1:4330;ClinVar_Variation_ID=1189928;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;REVEL_score=0.136;SpliceAI=A|MN1|0.00|0.00|0.00|0.00|-4|-1|-4|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000703102,ENST00000760484,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000299103,4330;VEP_SYMBOL=MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=53085;gnomADv4_1_AC_joint_XX=27443;gnomADv4_1_AC_joint_XY=25642;gnomADv4_1_AF_grpmax_joint=0.0457895;gnomADv4_1_AF_joint=0.0350126;gnomADv4_1_AF_joint_XX=0.0355582;gnomADv4_1_AF_joint_XY=0.034447;gnomADv4_1_AN_grpmax_joint=5700;gnomADv4_1_AN_joint=1516168;gnomADv4_1_AN_joint_XX=771778;gnomADv4_1_AN_joint_XY=744390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1099;gnomADv4_1_nhomalt_joint_XX=573;gnomADv4_1_nhomalt_joint_XY=526;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27800302 chr22_27800302_C_G C G 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;AlphaMissense_class=likely_benign;AlphaMissense_pathogenicity=0.1258;AlphaMissense_protein_variant=G81A;AlphaMissense_transcript_id=ENST00000302326.5;AlphaMissense_uniprot_id=Q10571;CADD_PHREDscore=22.7;CADD_Rawscore=3.48641;CSQ=G|missense_variant|MODERATE|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding|1/2||ENST00000302326.5:c.242G>C|ENSP00000304956.4:p.Gly81Ala|1455|242|81|G/A|gGg/gCg|rs201422000||-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl||C|C||1||chr22:g.27800302C>G|likely_benign||1||||||||||,G|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000424656|nonsense_mediated_decay||||||||||rs201422000|3406|-1|cds_start_NF|HGNC|HGNC:7180|5||ENSP00000397805||H7C105.51|UPI0001611020|||Ensembl||C|C||1||chr22:g.27800302C>G|likely_benign||1||||||||||,G|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000703102|protein_coding_CDS_not_defined||||||||||rs201422000|4874|-1||HGNC|HGNC:7180|||||||||Ensembl||C|C||1||chr22:g.27800302C>G|likely_benign||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000299103|Transcript|ENST00000760484|lncRNA||||||||||rs201422000|1474|-1||||||||||||Ensembl||C|C||||chr22:g.27800302C>G|likely_benign||1||||||||||,G|missense_variant|MODERATE|MN1|4330|Transcript|NM_002430.3|protein_coding|1/2||NM_002430.3:c.242G>C|NP_002421.3:p.Gly81Ala|1455|242|81|G/A|gGg/gCg|rs201422000||-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq||C|C||||chr22:g.27800302C>G|likely_benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.27800302C>G;ClinVar_CLNSIG=Likely_benign;ClinVar_GENEINFO=MN1:4330;ClinVar_Variation_ID=2653034;DecipherG2P_allelic_requirement=monoallelic_autosomal;DecipherG2P_confidence_category=strong;DecipherG2P_disease_name=MN1_C-terminal_truncation_syndrome_;DecipherG2P_gene_disease_pair_entry_date=2019-06-15_18:38:15;DecipherG2P_gene_symbol=MN1;DecipherG2P_hgnc_id=7180;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31839203|31834374;DecipherG2P_variant_consequence=loss_of_function_variant;REVEL_score=0.293;SpliceAI=G|MN1|0.00|0.00|0.00|0.00|-47|0|-38|1;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000302326,ENST00000424656,ENST00000703102,ENST00000760484,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000169184,ENSG00000169184,ENSG00000299103,4330;VEP_SYMBOL=MN1,MN1,MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=2377;gnomADv4_1_AC_joint_XX=1178;gnomADv4_1_AC_joint_XY=1199;gnomADv4_1_AF_grpmax_joint=0.00138327;gnomADv4_1_AF_joint=0.00150718;gnomADv4_1_AF_joint_XX=0.00147643;gnomADv4_1_AF_joint_XY=0.00153866;gnomADv4_1_AN_grpmax_joint=1161736;gnomADv4_1_AN_joint=1577122;gnomADv4_1_AN_joint_XX=797870;gnomADv4_1_AN_joint_XY=779252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8;gnomADv4_1_nhomalt_joint_XX=4;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27806297 chr22_27806297_A_AACAC A AACAC 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=37;CADDIndel_PHREDscore=2.214;CADDIndel_Rawscore=0.190942;CSQ=ACAC|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||||||||||rs59411759|4541|-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl|||||1||chr22:g.27806329_27806332dup|||||||||||||,ACAC|upstream_gene_variant|MODIFIER||ENSG00000299103|Transcript|ENST00000760484|lncRNA||||||||||rs59411759|4239|-1||||||||||||Ensembl|||||||chr22:g.27806329_27806332dup|||||||||||||,ACAC|upstream_gene_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||||||||||rs59411759|4541|-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq|||||||chr22:g.27806329_27806332dup|||||||||||||;TYPE=INDEL;VEP_Allele=ACAC,ACAC,ACAC;VEP_Feature=ENST00000302326,ENST00000760484,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000299103,4330;VEP_SYMBOL=MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=4019;gnomADv4_1_AC_joint_XX=2105;gnomADv4_1_AC_joint_XY=1914;gnomADv4_1_AF_grpmax_joint=0.0755396;gnomADv4_1_AF_joint=0.0283683;gnomADv4_1_AF_joint_XX=0.0288506;gnomADv4_1_AF_joint_XY=0.0278562;gnomADv4_1_AN_grpmax_joint=278;gnomADv4_1_AN_joint=141672;gnomADv4_1_AN_joint_XX=72962;gnomADv4_1_AN_joint_XY=68710;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=72;gnomADv4_1_nhomalt_joint_XX=34;gnomADv4_1_nhomalt_joint_XY=38;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27806331 chr22_27806331_C_CACACACACAG C CACACACACAG 24 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=24;CADDIndel_PHREDscore=0.901;CADDIndel_Rawscore=-0.044804;CSQ=ACACACACAG|upstream_gene_variant|MODIFIER|MN1|ENSG00000169184|Transcript|ENST00000302326|protein_coding||||||||||rs1555884543|4575|-1||HGNC|HGNC:7180|1|CCDS42998.1|ENSP00000304956|Q10571.168||UPI0000207445|||Ensembl|||||1||chr22:g.27806332_27806333insCACACACAGA|||||||||||||,ACACACACAG|upstream_gene_variant|MODIFIER||ENSG00000299103|Transcript|ENST00000760484|lncRNA||||||||||rs1555884543|4273|-1||||||||||||Ensembl|||||||chr22:g.27806332_27806333insCACACACAGA|||||||||||||,ACACACACAG|upstream_gene_variant|MODIFIER|MN1|4330|Transcript|NM_002430.3|protein_coding||||||||||rs1555884543|4575|-1||EntrezGene|HGNC:7180|||NP_002421.3||||||RefSeq|||||||chr22:g.27806332_27806333insCACACACAGA|||||||||||||;TYPE=INDEL;VEP_Allele=ACACACACAG,ACACACACAG,ACACACACAG;VEP_Feature=ENST00000302326,ENST00000760484,NM_002430.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000169184,ENSG00000299103,4330;VEP_SYMBOL=MN1,.,MN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=3635;gnomADv4_1_AC_joint_XX=1814;gnomADv4_1_AC_joint_XY=1821;gnomADv4_1_AF_grpmax_joint=0.0560917;gnomADv4_1_AF_joint=0.0242194;gnomADv4_1_AF_joint_XX=0.023567;gnomADv4_1_AF_joint_XY=0.0249063;gnomADv4_1_AN_grpmax_joint=4974;gnomADv4_1_AN_joint=150086;gnomADv4_1_AN_joint_XX=76972;gnomADv4_1_AN_joint_XY=73114;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=66;gnomADv4_1_nhomalt_joint_XX=40;gnomADv4_1_nhomalt_joint_XY=26;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27807123 chr22_27807123_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.01;CADD_Rawscore=-1.26808;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs112220149|||||||||||||||||||||chr22:g.27807123C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=49;gnomADv4_1_AC_joint_XX=28;gnomADv4_1_AC_joint_XY=21;gnomADv4_1_AF_grpmax_joint=0.00340136;gnomADv4_1_AF_joint=0.000322483;gnomADv4_1_AF_joint_XX=0.0003605;gnomADv4_1_AF_joint_XY=0.000282729;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151946;gnomADv4_1_AN_joint_XX=77670;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27807762 chr22_27807762_G_A G A 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.562;CADD_Rawscore=-0.164078;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5752640|||||||||||||||||||||chr22:g.27807762G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=48100;gnomADv4_1_AC_joint_XX=24633;gnomADv4_1_AC_joint_XY=23467;gnomADv4_1_AF_grpmax_joint=0.428848;gnomADv4_1_AF_joint=0.316239;gnomADv4_1_AF_joint_XX=0.316831;gnomADv4_1_AF_joint_XY=0.31562;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8324;gnomADv4_1_nhomalt_joint_XX=4244;gnomADv4_1_nhomalt_joint_XY=4080;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27808809 chr22_27808809_T_C T C 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=2.656;CADD_Rawscore=0.240249;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs11704546|||||||||||||||||||||chr22:g.27808809T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37739;gnomADv4_1_AC_joint_XX=19661;gnomADv4_1_AC_joint_XY=18078;gnomADv4_1_AF_grpmax_joint=0.357143;gnomADv4_1_AF_joint=0.248692;gnomADv4_1_AF_joint_XX=0.253337;gnomADv4_1_AF_joint_XY=0.243829;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151750;gnomADv4_1_AN_joint_XX=77608;gnomADv4_1_AN_joint_XY=74142;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5099;gnomADv4_1_nhomalt_joint_XX=2710;gnomADv4_1_nhomalt_joint_XY=2389;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27809058 chr22_27809058_C_T C T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=5.692;CADD_Rawscore=0.522398;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs1568989918|||||||||||||||||||||chr22:g.27809058C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27810152 chr22_27810152_G_C G C 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=1.92;CADD_Rawscore=0.153058;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7J2H|enhancer||||||||||rs368266404|||||||||||||||||||||chr22:g.27810152G>C|||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs368266404|||||||||||||||||||||chr22:g.27810152G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENSR22_B7J2H,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27810153 chr22_27810153_T_C T C 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.221;CADD_Rawscore=0.034236;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7J2H|enhancer||||||||||rs372333047|||||||||||||||||||||chr22:g.27810153T>C|||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs372333047|||||||||||||||||||||chr22:g.27810153T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENSR22_B7J2H,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=.;gnomADv4_1_AC_joint_XX=.;gnomADv4_1_AC_joint_XY=.;gnomADv4_1_AF_grpmax_joint=.;gnomADv4_1_AF_joint=.;gnomADv4_1_AF_joint_XX=.;gnomADv4_1_AF_joint_XY=.;gnomADv4_1_AN_grpmax_joint=.;gnomADv4_1_AN_joint=151270;gnomADv4_1_AN_joint_XX=77420;gnomADv4_1_AN_joint_XY=73850;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=.;gnomADv4_1_nhomalt_joint=.;gnomADv4_1_nhomalt_joint_XX=.;gnomADv4_1_nhomalt_joint_XY=.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27810154 chr22_27810154_G_C G C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.673;CADD_Rawscore=-0.118798;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7J2H|enhancer||||||||||rs375763634|||||||||||||||||||||chr22:g.27810154G>C|||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs375763634|||||||||||||||||||||chr22:g.27810154G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENSR22_B7J2H,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27810156 chr22_27810156_GT_G GT G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CSQ=-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7J2H|enhancer||||||||||rs201115873|||||||||||||||||||||chr22:g.27810157del|||||||||||||,-|intergenic_variant|MODIFIER|||||||||||||||rs201115873|||||||||||||||||||||chr22:g.27810157del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENSR22_B7J2H,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=.;gnomADv4_1_AC_joint_XX=.;gnomADv4_1_AC_joint_XY=.;gnomADv4_1_AF_grpmax_joint=.;gnomADv4_1_AF_joint=.;gnomADv4_1_AF_joint_XX=.;gnomADv4_1_AF_joint_XY=.;gnomADv4_1_AN_grpmax_joint=.;gnomADv4_1_AN_joint=151902;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=.;gnomADv4_1_nhomalt_joint=.;gnomADv4_1_nhomalt_joint_XX=.;gnomADv4_1_nhomalt_joint_XY=.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27810159 chr22_27810159_A_G A G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=3.417;CADD_Rawscore=0.313192;CSQ=G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7J2H|enhancer||||||||||rs111517609|||||||||||||||||||||chr22:g.27810159A>G|||||||||||||,G|intergenic_variant|MODIFIER|||||||||||||||rs111517609|||||||||||||||||||||chr22:g.27810159A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENSR22_B7J2H,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27810206 chr22_27810206_A_G A G 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=1.991;CADD_Rawscore=0.16279;CSQ=G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7J2H|enhancer||||||||||rs6005631|||||||||||||||||||||chr22:g.27810206A>G|||||||||||||,G|intergenic_variant|MODIFIER|||||||||||||||rs6005631|||||||||||||||||||||chr22:g.27810206A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENSR22_B7J2H,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=45860;gnomADv4_1_AC_joint_XX=24090;gnomADv4_1_AC_joint_XY=21770;gnomADv4_1_AF_grpmax_joint=0.463412;gnomADv4_1_AF_joint=0.301508;gnomADv4_1_AF_joint_XX=0.309855;gnomADv4_1_AF_joint_XY=0.292781;gnomADv4_1_AN_grpmax_joint=41462;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7986;gnomADv4_1_nhomalt_joint_XX=4185;gnomADv4_1_nhomalt_joint_XY=3801;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27810412 chr22_27810412_C_A C A 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=14.53;CADD_Rawscore=1.55948;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7J2H|enhancer||||||||||rs73164492|||||||||||||||||||||chr22:g.27810412C>A|||||||||||||,A|intergenic_variant|MODIFIER|||||||||||||||rs73164492|||||||||||||||||||||chr22:g.27810412C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENSR22_B7J2H,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=24354;gnomADv4_1_AC_joint_XX=12907;gnomADv4_1_AC_joint_XY=11447;gnomADv4_1_AF_grpmax_joint=0.302721;gnomADv4_1_AF_joint=0.160019;gnomADv4_1_AF_joint_XX=0.165934;gnomADv4_1_AF_joint_XY=0.153837;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2507;gnomADv4_1_nhomalt_joint_XX=1360;gnomADv4_1_nhomalt_joint_XY=1147;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27810924 chr22_27810924_A_C A C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.004;CADD_Rawscore=-1.61587;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7J2H|enhancer||||||||||rs11705555|||||||||||||||||||||chr22:g.27810924A>C|||1||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs11705555|||||||||||||||||||||chr22:g.27810924A>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENSR22_B7J2H,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=35182;gnomADv4_1_AC_joint_XX=18585;gnomADv4_1_AC_joint_XY=16597;gnomADv4_1_AF_grpmax_joint=0.319728;gnomADv4_1_AF_joint=0.231214;gnomADv4_1_AF_joint_XX=0.239005;gnomADv4_1_AF_joint_XY=0.223072;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4415;gnomADv4_1_nhomalt_joint_XX=2335;gnomADv4_1_nhomalt_joint_XY=2080;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27810971 chr22_27810971_C_T C T 55 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=9.524;CADD_Rawscore=0.926863;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7J2H|enhancer||||||||||rs13057169|||||||||||||||||||||chr22:g.27810971C>T|||||||||||||,T|intergenic_variant|MODIFIER|||||||||||||||rs13057169|||||||||||||||||||||chr22:g.27810971C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENSR22_B7J2H,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=24341;gnomADv4_1_AC_joint_XX=12904;gnomADv4_1_AC_joint_XY=11437;gnomADv4_1_AF_grpmax_joint=0.302721;gnomADv4_1_AF_joint=0.159886;gnomADv4_1_AF_joint_XX=0.16587;gnomADv4_1_AF_joint_XY=0.153632;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152240;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2498;gnomADv4_1_nhomalt_joint_XX=1353;gnomADv4_1_nhomalt_joint_XY=1145;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27811020 chr22_27811020_T_TG T TG 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=18.41;CADDIndel_Rawscore=2.36639;CSQ=G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7J2H|enhancer||||||||||rs201873814|||||||||||||||||||||chr22:g.27811021dup|||||||||||||,G|intergenic_variant|MODIFIER|||||||||||||||rs201873814|||||||||||||||||||||chr22:g.27811021dup|||||||||||||;TYPE=INDEL;VEP_Allele=G,G;VEP_Feature=ENSR22_B7J2H,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=2518;gnomADv4_1_AC_joint_XX=1236;gnomADv4_1_AC_joint_XY=1282;gnomADv4_1_AF_grpmax_joint=0.0680272;gnomADv4_1_AF_joint=0.0165414;gnomADv4_1_AF_joint_XX=0.0158857;gnomADv4_1_AF_joint_XY=0.017227;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152224;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=36;gnomADv4_1_nhomalt_joint_XX=21;gnomADv4_1_nhomalt_joint_XY=15;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27811151 chr22_27811151_T_C T C 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.51;CADD_Rawscore=-0.188281;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5997307|||||||||||||||||||||chr22:g.27811151T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=41054;gnomADv4_1_AC_joint_XX=21529;gnomADv4_1_AC_joint_XY=19525;gnomADv4_1_AF_grpmax_joint=0.354334;gnomADv4_1_AF_joint=0.269748;gnomADv4_1_AF_joint_XX=0.276808;gnomADv4_1_AF_joint_XY=0.262369;gnomADv4_1_AN_grpmax_joint=41506;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6039;gnomADv4_1_nhomalt_joint_XX=3160;gnomADv4_1_nhomalt_joint_XY=2879;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27811642 chr22_27811642_G_T G T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=5.824;CADD_Rawscore=0.53553;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs11703195|||||||||||||||||||||chr22:g.27811642G>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=27912;gnomADv4_1_AC_joint_XX=14748;gnomADv4_1_AC_joint_XY=13164;gnomADv4_1_AF_grpmax_joint=0.312925;gnomADv4_1_AF_joint=0.183494;gnomADv4_1_AF_joint_XX=0.18968;gnomADv4_1_AF_joint_XY=0.177026;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2946;gnomADv4_1_nhomalt_joint_XX=1588;gnomADv4_1_nhomalt_joint_XY=1358;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27812248 chr22_27812248_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=9.537;CADD_Rawscore=0.92816;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs111528605|||||||||||||||||||||chr22:g.27812248G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=4165;gnomADv4_1_AC_joint_XX=2085;gnomADv4_1_AC_joint_XY=2080;gnomADv4_1_AF_grpmax_joint=0.116438;gnomADv4_1_AF_joint=0.0273948;gnomADv4_1_AF_joint_XX=0.0268319;gnomADv4_1_AF_joint_XY=0.0279833;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152036;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=91;gnomADv4_1_nhomalt_joint_XX=49;gnomADv4_1_nhomalt_joint_XY=42;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27812540 chr22_27812540_C_G C G 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.85;CADD_Rawscore=-0.059683;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs11704137|||||||||||||||||||||chr22:g.27812540C>G|||1||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38904;gnomADv4_1_AC_joint_XX=20109;gnomADv4_1_AC_joint_XY=18795;gnomADv4_1_AF_grpmax_joint=0.264214;gnomADv4_1_AF_joint=0.16523;gnomADv4_1_AF_joint_XX=0.175624;gnomADv4_1_AF_joint_XY=0.15539;gnomADv4_1_AN_grpmax_joint=598;gnomADv4_1_AN_joint=235454;gnomADv4_1_AN_joint_XX=114500;gnomADv4_1_AN_joint_XY=120954;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3792;gnomADv4_1_nhomalt_joint_XX=2011;gnomADv4_1_nhomalt_joint_XY=1781;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27812741 chr22_27812741_A_G A G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.132;CADD_Rawscore=-0.537872;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs11704274|||||||||||||||||||||chr22:g.27812741A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=81421;gnomADv4_1_AC_joint_XX=38960;gnomADv4_1_AC_joint_XY=42461;gnomADv4_1_AF_grpmax_joint=0.243573;gnomADv4_1_AF_joint=0.181649;gnomADv4_1_AF_joint_XX=0.190329;gnomADv4_1_AF_joint_XY=0.174353;gnomADv4_1_AN_grpmax_joint=3034;gnomADv4_1_AN_joint=448232;gnomADv4_1_AN_joint_XX=204698;gnomADv4_1_AN_joint_XY=243534;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8775;gnomADv4_1_nhomalt_joint_XX=4252;gnomADv4_1_nhomalt_joint_XY=4523;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27813678 chr22_27813678_T_A T A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.29;CADD_Rawscore=0.30164;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs73164496|||||||||||||||||||||chr22:g.27813678T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=27578;gnomADv4_1_AC_joint_XX=14605;gnomADv4_1_AC_joint_XY=12973;gnomADv4_1_AF_grpmax_joint=0.312925;gnomADv4_1_AF_joint=0.181697;gnomADv4_1_AF_joint_XX=0.188189;gnomADv4_1_AF_joint_XY=0.174904;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151780;gnomADv4_1_AN_joint_XX=77608;gnomADv4_1_AN_joint_XY=74172;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2838;gnomADv4_1_nhomalt_joint_XX=1538;gnomADv4_1_nhomalt_joint_XY=1300;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27814266 chr22_27814266_G_A G A 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=2.225;CADD_Rawscore=0.192249;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs112025797|||||||||||||||||||||chr22:g.27814266G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=25184;gnomADv4_1_AC_joint_XX=13367;gnomADv4_1_AC_joint_XY=11817;gnomADv4_1_AF_grpmax_joint=0.302721;gnomADv4_1_AF_joint=0.16561;gnomADv4_1_AF_joint_XX=0.171994;gnomADv4_1_AF_joint_XY=0.158937;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2564;gnomADv4_1_nhomalt_joint_XX=1395;gnomADv4_1_nhomalt_joint_XY=1169;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27814366 chr22_27814366_G_A G A 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.323;CADD_Rawscore=-0.302915;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs6005634|||||||||||||||||||||chr22:g.27814366G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=40875;gnomADv4_1_AC_joint_XX=21455;gnomADv4_1_AC_joint_XY=19420;gnomADv4_1_AF_grpmax_joint=0.372826;gnomADv4_1_AF_joint=0.269311;gnomADv4_1_AF_joint_XX=0.276525;gnomADv4_1_AF_joint_XY=0.261767;gnomADv4_1_AN_grpmax_joint=41290;gnomADv4_1_AN_joint=151776;gnomADv4_1_AN_joint_XX=77588;gnomADv4_1_AN_joint_XY=74188;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6082;gnomADv4_1_nhomalt_joint_XX=3196;gnomADv4_1_nhomalt_joint_XY=2886;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27814835 chr22_27814835_AAC_A;chr22_27814835_A_AACACACAC AAC A 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=1.195;CADDIndel_Rawscore=0.028603;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs71194741|||||||||||||||||||||chr22:g.27814871_27814872del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=77801;gnomADv4_1_AC_joint_XX=39570;gnomADv4_1_AC_joint_XY=38231;gnomADv4_1_AF_grpmax_joint=0.855307;gnomADv4_1_AF_joint=0.541941;gnomADv4_1_AF_joint_XX=0.534167;gnomADv4_1_AF_joint_XY=0.550229;gnomADv4_1_AN_grpmax_joint=4748;gnomADv4_1_AN_joint=143560;gnomADv4_1_AN_joint_XX=74078;gnomADv4_1_AN_joint_XY=69482;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=22260;gnomADv4_1_nhomalt_joint_XX=11177;gnomADv4_1_nhomalt_joint_XY=11083;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27814835 chr22_27814835_AAC_A;chr22_27814835_A_AACACACAC A AACACACAC 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADDIndel_PHREDscore=1.255;CADDIndel_Rawscore=0.041328;CSQ=ACACACAC|intergenic_variant|MODIFIER|||||||||||||||rs71194741|||||||||||||||||||||chr22:g.27814865_27814872dup|||||||||||||;TYPE=INDEL;VEP_Allele=ACACACAC;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=23298;gnomADv4_1_AC_joint_XX=12436;gnomADv4_1_AC_joint_XY=10862;gnomADv4_1_AF_grpmax_joint=0.231034;gnomADv4_1_AF_joint=0.162199;gnomADv4_1_AF_joint_XX=0.167823;gnomADv4_1_AF_joint_XY=0.156207;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=143638;gnomADv4_1_AN_joint_XX=74102;gnomADv4_1_AN_joint_XY=69536;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1952;gnomADv4_1_nhomalt_joint_XX=1058;gnomADv4_1_nhomalt_joint_XY=894;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27817056 chr22_27817056_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.093;CADD_Rawscore=-0.632377;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs13058508|||||||||||||||||||||chr22:g.27817056C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=39476;gnomADv4_1_AC_joint_XX=20721;gnomADv4_1_AC_joint_XY=18755;gnomADv4_1_AF_grpmax_joint=0.347222;gnomADv4_1_AF_joint=0.260012;gnomADv4_1_AF_joint_XX=0.266948;gnomADv4_1_AF_joint_XY=0.252756;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=151824;gnomADv4_1_AN_joint_XX=77622;gnomADv4_1_AN_joint_XY=74202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5511;gnomADv4_1_nhomalt_joint_XX=2909;gnomADv4_1_nhomalt_joint_XY=2602;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27817438 chr22_27817438_C_T C T 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.547;CADD_Rawscore=-0.170492;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs78862050|||||||||||||||||||||chr22:g.27817438C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=4178;gnomADv4_1_AC_joint_XX=2091;gnomADv4_1_AC_joint_XY=2087;gnomADv4_1_AF_grpmax_joint=0.12585;gnomADv4_1_AF_joint=0.0274439;gnomADv4_1_AF_joint_XX=0.0268697;gnomADv4_1_AF_joint_XY=0.0280443;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=92;gnomADv4_1_nhomalt_joint_XX=50;gnomADv4_1_nhomalt_joint_XY=42;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27817878 chr22_27817878_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.214;CADD_Rawscore=-0.409743;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs6005638|||||||||||||||||||||chr22:g.27817878C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=45255;gnomADv4_1_AC_joint_XX=23787;gnomADv4_1_AC_joint_XY=21468;gnomADv4_1_AF_grpmax_joint=0.458396;gnomADv4_1_AF_joint=0.299881;gnomADv4_1_AF_joint_XX=0.308082;gnomADv4_1_AF_joint_XY=0.291289;gnomADv4_1_AN_grpmax_joint=40934;gnomADv4_1_AN_joint=150910;gnomADv4_1_AN_joint_XX=77210;gnomADv4_1_AN_joint_XY=73700;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7809;gnomADv4_1_nhomalt_joint_XX=4095;gnomADv4_1_nhomalt_joint_XY=3714;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27818001 chr22_27818001_A_G A G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.658;CADD_Rawscore=0.114464;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs6005639|||||||||||||||||||||chr22:g.27818001A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=19902;gnomADv4_1_AC_joint_XX=10266;gnomADv4_1_AC_joint_XY=9636;gnomADv4_1_AF_grpmax_joint=0.297317;gnomADv4_1_AF_joint=0.133529;gnomADv4_1_AF_joint_XX=0.134498;gnomADv4_1_AF_joint_XY=0.132512;gnomADv4_1_AN_grpmax_joint=40334;gnomADv4_1_AN_joint=149046;gnomADv4_1_AN_joint_XX=76328;gnomADv4_1_AN_joint_XY=72718;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2114;gnomADv4_1_nhomalt_joint_XX=1087;gnomADv4_1_nhomalt_joint_XY=1027;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27818113 chr22_27818113_A_AT;chr22_27818113_A_AAAAAAAAAAAAT A AT 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=37;CADDIndel_PHREDscore=0.228;CADDIndel_Rawscore=-0.392533;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs60929911|||||||||||||||||||||chr22:g.27818113_27818114insT|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=11892;gnomADv4_1_AC_joint_XX=6425;gnomADv4_1_AC_joint_XY=5467;gnomADv4_1_AF_grpmax_joint=0.119335;gnomADv4_1_AF_joint=0.103495;gnomADv4_1_AF_joint_XX=0.106611;gnomADv4_1_AF_joint_XY=0.100059;gnomADv4_1_AN_grpmax_joint=24226;gnomADv4_1_AN_joint=114904;gnomADv4_1_AN_joint_XX=60266;gnomADv4_1_AN_joint_XY=54638;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=696;gnomADv4_1_nhomalt_joint_XX=376;gnomADv4_1_nhomalt_joint_XY=320;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27818113 chr22_27818113_A_AT;chr22_27818113_A_AAAAAAAAAAAAT A AAAAAAAAAAAAT 37 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=18;CADDIndel_PHREDscore=0.188;CADDIndel_Rawscore=-0.442719;CSQ=AAAAAAAAAAAT|intergenic_variant|MODIFIER||||||||||||||||||||||||||||||||||||chr22:g.27818114_27818115insAAAAAAAAAATA|||||||||||||;TYPE=INDEL;VEP_Allele=AAAAAAAAAAAT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=390;gnomADv4_1_AC_joint_XX=240;gnomADv4_1_AC_joint_XY=150;gnomADv4_1_AF_grpmax_joint=0.00548768;gnomADv4_1_AF_joint=0.00337715;gnomADv4_1_AF_joint_XX=0.00396013;gnomADv4_1_AF_joint_XY=0.00273334;gnomADv4_1_AN_grpmax_joint=59588;gnomADv4_1_AN_joint=115482;gnomADv4_1_AN_joint_XX=60604;gnomADv4_1_AN_joint_XY=54878;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4;gnomADv4_1_nhomalt_joint_XX=2;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27818698 chr22_27818698_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.09;CADD_Rawscore=-0.641127;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs16985573|||||||||||||||||||||chr22:g.27818698C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=19602;gnomADv4_1_AC_joint_XX=10059;gnomADv4_1_AC_joint_XY=9543;gnomADv4_1_AF_grpmax_joint=0.27258;gnomADv4_1_AF_joint=0.128815;gnomADv4_1_AF_joint_XX=0.12933;gnomADv4_1_AF_joint_XY=0.128276;gnomADv4_1_AN_grpmax_joint=41452;gnomADv4_1_AN_joint=152172;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1902;gnomADv4_1_nhomalt_joint_XX=980;gnomADv4_1_nhomalt_joint_XY=922;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27818765 chr22_27818765_G_GTCTTAGCTACAGACC G GTCTTAGCTACAGACC 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=1.229;CADDIndel_Rawscore=0.03585;CSQ=TCTTAGCTACAGACC|intergenic_variant|MODIFIER|||||||||||||||rs146999397|||||||||||||||||||||chr22:g.27818767_27818781dup|||||||||||||;TYPE=INDEL;VEP_Allele=TCTTAGCTACAGACC;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=19064;gnomADv4_1_AC_joint_XX=9776;gnomADv4_1_AC_joint_XY=9288;gnomADv4_1_AF_grpmax_joint=0.261172;gnomADv4_1_AF_joint=0.125365;gnomADv4_1_AF_joint_XX=0.125762;gnomADv4_1_AF_joint_XY=0.12495;gnomADv4_1_AN_grpmax_joint=41398;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1771;gnomADv4_1_nhomalt_joint_XX=918;gnomADv4_1_nhomalt_joint_XY=853;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27819040 chr22_27819040_C_G C G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.043;CADD_Rawscore=0.278557;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs564933361|||||||||||||||||||||chr22:g.27819040C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=775;gnomADv4_1_AC_joint_XX=405;gnomADv4_1_AC_joint_XY=370;gnomADv4_1_AF_grpmax_joint=0.00786418;gnomADv4_1_AF_joint=0.00508737;gnomADv4_1_AF_joint_XX=0.00520325;gnomADv4_1_AF_joint_XY=0.00496631;gnomADv4_1_AN_grpmax_joint=68030;gnomADv4_1_AN_joint=152338;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74502;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6;gnomADv4_1_nhomalt_joint_XX=2;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27819255 chr22_27819255_A_T A T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.595;CADD_Rawscore=-0.149501;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs150648232|||||||||||||||||||||chr22:g.27819255A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=4187;gnomADv4_1_AC_joint_XX=2095;gnomADv4_1_AC_joint_XY=2092;gnomADv4_1_AF_grpmax_joint=0.12585;gnomADv4_1_AF_joint=0.02752;gnomADv4_1_AF_joint_XX=0.0269467;gnomADv4_1_AF_joint_XY=0.028119;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=93;gnomADv4_1_nhomalt_joint_XX=51;gnomADv4_1_nhomalt_joint_XY=42;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27819401 chr22_27819401_C_T C T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.073;CADD_Rawscore=0.173429;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5752642|||||||||||||||||||||chr22:g.27819401C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=50117;gnomADv4_1_AC_joint_XX=24746;gnomADv4_1_AC_joint_XY=25371;gnomADv4_1_AF_grpmax_joint=0.478595;gnomADv4_1_AF_joint=0.329956;gnomADv4_1_AF_joint_XX=0.31867;gnomADv4_1_AF_joint_XY=0.341761;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=151890;gnomADv4_1_AN_joint_XX=77654;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=10093;gnomADv4_1_nhomalt_joint_XX=4838;gnomADv4_1_nhomalt_joint_XY=5255;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27819525 chr22_27819525_T_TTTTG T TTTTG 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=1.26;CADDIndel_Rawscore=0.042357;CSQ=TTTG|intergenic_variant|MODIFIER|||||||||||||||rs111334030|||||||||||||||||||||chr22:g.27819549_27819552dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTG;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=25509;gnomADv4_1_AC_joint_XX=13228;gnomADv4_1_AC_joint_XY=12281;gnomADv4_1_AF_grpmax_joint=0.356154;gnomADv4_1_AF_joint=0.16807;gnomADv4_1_AF_joint_XX=0.170561;gnomADv4_1_AF_joint_XY=0.165468;gnomADv4_1_AN_grpmax_joint=41176;gnomADv4_1_AN_joint=151776;gnomADv4_1_AN_joint_XX=77556;gnomADv4_1_AN_joint_XY=74220;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3199;gnomADv4_1_nhomalt_joint_XX=1654;gnomADv4_1_nhomalt_joint_XY=1545;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 27819612 chr22_27819612_C_A C A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.156;CADD_Rawscore=-0.492658;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs73432770|||||||||||||||||||||chr22:g.27819612C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=19185;gnomADv4_1_AC_joint_XX=9834;gnomADv4_1_AC_joint_XY=9351;gnomADv4_1_AF_grpmax_joint=0.263252;gnomADv4_1_AF_joint=0.126184;gnomADv4_1_AF_joint_XX=0.126538;gnomADv4_1_AF_joint_XY=0.125814;gnomADv4_1_AN_grpmax_joint=41428;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1801;gnomADv4_1_nhomalt_joint_XX=930;gnomADv4_1_nhomalt_joint_XY=871;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27820601 chr22_27820601_CT_C;chr22_27820601_CTTTT_C CT C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADDIndel_PHREDscore=0.119;CADDIndel_Rawscore=-0.564151;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs3028828|4873|-1||||||||||||Ensembl||T|T||||chr22:g.27820621del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs3028828|4876|-1||||||||||||Ensembl||T|T||||chr22:g.27820621del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs3028828|4876|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27820621del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=63203;gnomADv4_1_AC_joint_XX=33089;gnomADv4_1_AC_joint_XY=30114;gnomADv4_1_AF_grpmax_joint=0.855226;gnomADv4_1_AF_joint=0.54522;gnomADv4_1_AF_joint_XX=0.54037;gnomADv4_1_AF_joint_XY=0.550651;gnomADv4_1_AN_grpmax_joint=3502;gnomADv4_1_AN_joint=115922;gnomADv4_1_AN_joint_XX=61234;gnomADv4_1_AN_joint_XY=54688;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16511;gnomADv4_1_nhomalt_joint_XX=8453;gnomADv4_1_nhomalt_joint_XY=8058;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27820601 chr22_27820601_CT_C;chr22_27820601_CTTTT_C CTTTT C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=36;CADDIndel_PHREDscore=0.765;CADDIndel_Rawscore=-0.086457;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs3028828|4870|-1||||||||||||Ensembl||TTTT|TTTT||||chr22:g.27820618_27820621del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs3028828|4873|-1||||||||||||Ensembl||TTTT|TTTT||||chr22:g.27820618_27820621del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs3028828|4873|-1||EntrezGene||||||||||RefSeq||TTTT|TTTT||||chr22:g.27820618_27820621del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=15986;gnomADv4_1_AC_joint_XX=8310;gnomADv4_1_AC_joint_XY=7676;gnomADv4_1_AF_grpmax_joint=0.25293;gnomADv4_1_AF_joint=0.137146;gnomADv4_1_AF_joint_XX=0.134968;gnomADv4_1_AF_joint_XY=0.139584;gnomADv4_1_AN_grpmax_joint=33282;gnomADv4_1_AN_joint=116562;gnomADv4_1_AN_joint_XX=61570;gnomADv4_1_AN_joint_XY=54992;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1177;gnomADv4_1_nhomalt_joint_XX=624;gnomADv4_1_nhomalt_joint_XY=553;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27821331 chr22_27821331_T_C T C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=2.745;CADD_Rawscore=0.24934;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs16985575|4144|-1||||||||||||Ensembl||T|T||||chr22:g.27821331T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs16985575|4147|-1||||||||||||Ensembl||T|T||||chr22:g.27821331T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs16985575|4147|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27821331T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=22751;gnomADv4_1_AC_joint_XX=11756;gnomADv4_1_AC_joint_XY=10995;gnomADv4_1_AF_grpmax_joint=0.286135;gnomADv4_1_AF_joint=0.149512;gnomADv4_1_AF_joint_XX=0.151175;gnomADv4_1_AF_joint_XY=0.147774;gnomADv4_1_AN_grpmax_joint=41470;gnomADv4_1_AN_joint=152168;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2311;gnomADv4_1_nhomalt_joint_XX=1185;gnomADv4_1_nhomalt_joint_XY=1126;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27821471 chr22_27821471_G_C G C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=11.39;CADD_Rawscore=1.1017;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs73164498|4004|-1||||||||||||Ensembl||G|G||||chr22:g.27821471G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs73164498|4007|-1||||||||||||Ensembl||G|G||||chr22:g.27821471G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs73164498|4007|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27821471G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=7124;gnomADv4_1_AC_joint_XX=3684;gnomADv4_1_AC_joint_XY=3440;gnomADv4_1_AF_grpmax_joint=0.105442;gnomADv4_1_AF_joint=0.0467736;gnomADv4_1_AF_joint_XX=0.0473376;gnomADv4_1_AF_joint_XY=0.0461844;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152308;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74484;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=224;gnomADv4_1_nhomalt_joint_XX=116;gnomADv4_1_nhomalt_joint_XY=108;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27821858 chr22_27821858_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.314;CADD_Rawscore=-0.310328;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs6005641|3617|-1||||||||||||Ensembl||C|C||||chr22:g.27821858C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs6005641|3620|-1||||||||||||Ensembl||C|C||||chr22:g.27821858C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs6005641|3620|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27821858C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=47539;gnomADv4_1_AC_joint_XX=24968;gnomADv4_1_AC_joint_XY=22571;gnomADv4_1_AF_grpmax_joint=0.562183;gnomADv4_1_AF_joint=0.31267;gnomADv4_1_AF_joint_XX=0.321256;gnomADv4_1_AF_joint_XY=0.303692;gnomADv4_1_AN_grpmax_joint=41426;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9432;gnomADv4_1_nhomalt_joint_XX=4983;gnomADv4_1_nhomalt_joint_XY=4449;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27822186 chr22_27822186_A_G A G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.313;CADD_Rawscore=-0.311302;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs6005642|3289|-1||||||||||||Ensembl||A|A||||chr22:g.27822186A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs6005642|3292|-1||||||||||||Ensembl||A|A||||chr22:g.27822186A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs6005642|3292|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27822186A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=27952;gnomADv4_1_AC_joint_XX=14533;gnomADv4_1_AC_joint_XY=13419;gnomADv4_1_AF_grpmax_joint=0.407458;gnomADv4_1_AF_joint=0.184339;gnomADv4_1_AF_joint_XX=0.187407;gnomADv4_1_AF_joint_XY=0.181127;gnomADv4_1_AN_grpmax_joint=41300;gnomADv4_1_AN_joint=151634;gnomADv4_1_AN_joint_XX=77548;gnomADv4_1_AN_joint_XY=74086;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4051;gnomADv4_1_nhomalt_joint_XX=2110;gnomADv4_1_nhomalt_joint_XY=1941;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27822320 chr22_27822320_TTTTTTTG_T;chr22_27822327_G_GT TTTTTTTG T 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=0.859;CADDIndel_Rawscore=-0.057006;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs377626672|3148|-1||||||||||||Ensembl||TTTTTTG|TTTTTTG||||chr22:g.27822339_27822345del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs377626672|3151|-1||||||||||||Ensembl||TTTTTTG|TTTTTTG||||chr22:g.27822339_27822345del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs377626672|3151|-1||EntrezGene||||||||||RefSeq||TTTTTTG|TTTTTTG||||chr22:g.27822339_27822345del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=6649;gnomADv4_1_AC_joint_XX=3445;gnomADv4_1_AC_joint_XY=3204;gnomADv4_1_AF_grpmax_joint=0.105469;gnomADv4_1_AF_joint=0.0532679;gnomADv4_1_AF_joint_XX=0.0532194;gnomADv4_1_AF_joint_XY=0.05332;gnomADv4_1_AN_grpmax_joint=256;gnomADv4_1_AN_joint=124822;gnomADv4_1_AN_joint_XX=64732;gnomADv4_1_AN_joint_XY=60090;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=216;gnomADv4_1_nhomalt_joint_XX=111;gnomADv4_1_nhomalt_joint_XY=105;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27822327 chr22_27822320_TTTTTTTG_T;chr22_27822327_G_GT G GT 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=29;CADDIndel_PHREDscore=1.074;CADDIndel_Rawscore=0.000607;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs140728851|3147|-1||||||||||||Ensembl|||||||chr22:g.27822333dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs140728851|3150|-1||||||||||||Ensembl|||||||chr22:g.27822333dup|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs140728851|3150|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27822333dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=52191;gnomADv4_1_AC_joint_XX=25969;gnomADv4_1_AC_joint_XY=26222;gnomADv4_1_AF_grpmax_joint=0.521092;gnomADv4_1_AF_joint=0.371927;gnomADv4_1_AF_joint_XX=0.361715;gnomADv4_1_AF_joint_XY=0.382624;gnomADv4_1_AN_grpmax_joint=14318;gnomADv4_1_AN_joint=140326;gnomADv4_1_AN_joint_XX=71794;gnomADv4_1_AN_joint_XY=68532;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=11119;gnomADv4_1_nhomalt_joint_XX=5397;gnomADv4_1_nhomalt_joint_XY=5722;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27822466 chr22_27822466_T_C T C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.384;CADD_Rawscore=0.066895;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs5762369|3009|-1||||||||||||Ensembl||T|T||||chr22:g.27822466T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs5762369|3012|-1||||||||||||Ensembl||T|T||||chr22:g.27822466T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs5762369|3012|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27822466T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=117037;gnomADv4_1_AC_joint_XX=59583;gnomADv4_1_AC_joint_XY=57454;gnomADv4_1_AF_grpmax_joint=0.907659;gnomADv4_1_AF_joint=0.769403;gnomADv4_1_AF_joint_XX=0.766282;gnomADv4_1_AF_joint_XY=0.772667;gnomADv4_1_AN_grpmax_joint=41520;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=45663;gnomADv4_1_nhomalt_joint_XX=23210;gnomADv4_1_nhomalt_joint_XY=22453;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27823528 chr22_27823528_G_A G A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.174;CADD_Rawscore=0.023908;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs6005643|1947|-1||||||||||||Ensembl||G|G||||chr22:g.27823528G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs6005643|1950|-1||||||||||||Ensembl||G|G||||chr22:g.27823528G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs6005643|1950|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27823528G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=26383;gnomADv4_1_AC_joint_XX=13865;gnomADv4_1_AC_joint_XY=12518;gnomADv4_1_AF_grpmax_joint=0.414861;gnomADv4_1_AF_joint=0.178834;gnomADv4_1_AF_joint_XX=0.183399;gnomADv4_1_AF_joint_XY=0.174035;gnomADv4_1_AN_grpmax_joint=38490;gnomADv4_1_AN_joint=147528;gnomADv4_1_AN_joint_XX=75600;gnomADv4_1_AN_joint_XY=71928;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3923;gnomADv4_1_nhomalt_joint_XX=2063;gnomADv4_1_nhomalt_joint_XY=1860;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27823555 chr22_27823555_T_G T G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.8;CADD_Rawscore=0.136049;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs55760235|1920|-1||||||||||||Ensembl||T|T||||chr22:g.27823555T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs55760235|1923|-1||||||||||||Ensembl||T|T||||chr22:g.27823555T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs55760235|1923|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27823555T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=8595;gnomADv4_1_AC_joint_XX=4540;gnomADv4_1_AC_joint_XY=4055;gnomADv4_1_AF_grpmax_joint=0.169291;gnomADv4_1_AF_joint=0.060694;gnomADv4_1_AF_joint_XX=0.0627957;gnomADv4_1_AF_joint_XY=0.0585019;gnomADv4_1_AN_grpmax_joint=254;gnomADv4_1_AN_joint=141612;gnomADv4_1_AN_joint_XX=72298;gnomADv4_1_AN_joint_XY=69314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=320;gnomADv4_1_nhomalt_joint_XX=174;gnomADv4_1_nhomalt_joint_XY=146;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27823559 chr22_27823559_TG_T TG T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=0.157;CADDIndel_Rawscore=-0.490458;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs374328189|1915|-1||||||||||||Ensembl||G|G||||chr22:g.27823560del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs374328189|1918|-1||||||||||||Ensembl||G|G||||chr22:g.27823560del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs374328189|1918|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27823560del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=18332;gnomADv4_1_AC_joint_XX=10106;gnomADv4_1_AC_joint_XY=8226;gnomADv4_1_AF_grpmax_joint=0.157623;gnomADv4_1_AF_joint=0.135954;gnomADv4_1_AF_joint_XX=0.145594;gnomADv4_1_AF_joint_XY=0.125726;gnomADv4_1_AN_grpmax_joint=34278;gnomADv4_1_AN_joint=134840;gnomADv4_1_AN_joint_XX=69412;gnomADv4_1_AN_joint_XY=65428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1174;gnomADv4_1_nhomalt_joint_XX=647;gnomADv4_1_nhomalt_joint_XY=527;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27823566 chr22_27823566_G_T G T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.331;CADD_Rawscore=-0.29696;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs28556611|1909|-1||||||||||||Ensembl||G|G||||chr22:g.27823566G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs28556611|1912|-1||||||||||||Ensembl||G|G||||chr22:g.27823566G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs28556611|1912|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27823566G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=36899;gnomADv4_1_AC_joint_XX=19844;gnomADv4_1_AC_joint_XY=17055;gnomADv4_1_AF_grpmax_joint=0.513038;gnomADv4_1_AF_joint=0.27166;gnomADv4_1_AF_joint_XX=0.283049;gnomADv4_1_AF_joint_XY=0.25951;gnomADv4_1_AN_grpmax_joint=31754;gnomADv4_1_AN_joint=135828;gnomADv4_1_AN_joint_XX=70108;gnomADv4_1_AN_joint_XY=65720;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6402;gnomADv4_1_nhomalt_joint_XX=3409;gnomADv4_1_nhomalt_joint_XY=2993;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27823966 chr22_27823966_AAT_A AAT A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=1.245;CADDIndel_Rawscore=0.039254;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs376942645|1507|-1||||||||||||Ensembl||AT|AT||||chr22:g.27823968_27823969del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs376942645|1510|-1||||||||||||Ensembl||AT|AT||||chr22:g.27823968_27823969del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs376942645|1510|-1||EntrezGene||||||||||RefSeq||AT|AT||||chr22:g.27823968_27823969del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=28820;gnomADv4_1_AC_joint_XX=15082;gnomADv4_1_AC_joint_XY=13738;gnomADv4_1_AF_grpmax_joint=0.431104;gnomADv4_1_AF_joint=0.19006;gnomADv4_1_AF_joint_XX=0.194461;gnomADv4_1_AF_joint_XY=0.185453;gnomADv4_1_AN_grpmax_joint=41120;gnomADv4_1_AN_joint=151636;gnomADv4_1_AN_joint_XX=77558;gnomADv4_1_AN_joint_XY=74078;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4434;gnomADv4_1_nhomalt_joint_XX=2349;gnomADv4_1_nhomalt_joint_XY=2085;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27824281 chr22_27824281_T_A T A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.553;CADD_Rawscore=-0.168174;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs6005645|1194|-1||||||||||||Ensembl||T|T||||chr22:g.27824281T>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs6005645|1197|-1||||||||||||Ensembl||T|T||||chr22:g.27824281T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs6005645|1197|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27824281T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=48863;gnomADv4_1_AC_joint_XX=25722;gnomADv4_1_AC_joint_XY=23141;gnomADv4_1_AF_grpmax_joint=0.598059;gnomADv4_1_AF_joint=0.321024;gnomADv4_1_AF_joint_XX=0.330668;gnomADv4_1_AF_joint_XY=0.310943;gnomADv4_1_AN_grpmax_joint=41516;gnomADv4_1_AN_joint=152210;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10323;gnomADv4_1_nhomalt_joint_XX=5449;gnomADv4_1_nhomalt_joint_XY=4874;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27824700 chr22_27824700_T_C T C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.809;CADD_Rawscore=0.13743;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs6005646|775|-1||||||||||||Ensembl||T|T||||chr22:g.27824700T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs6005646|778|-1||||||||||||Ensembl||T|T||||chr22:g.27824700T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs6005646|778|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27824700T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=46632;gnomADv4_1_AC_joint_XX=24557;gnomADv4_1_AC_joint_XY=22075;gnomADv4_1_AF_grpmax_joint=0.571177;gnomADv4_1_AF_joint=0.310404;gnomADv4_1_AF_joint_XX=0.320011;gnomADv4_1_AF_joint_XY=0.300373;gnomADv4_1_AN_grpmax_joint=39788;gnomADv4_1_AN_joint=150230;gnomADv4_1_AN_joint_XX=76738;gnomADv4_1_AN_joint_XY=73492;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9098;gnomADv4_1_nhomalt_joint_XX=4813;gnomADv4_1_nhomalt_joint_XY=4285;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27826127 chr22_27826127_G_A G A 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=2.734;CADD_Rawscore=0.248305;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||1/1|ENST00000834899.1:n.288-374C>T|||||||rs978658698||-1||||||||||||Ensembl||G|G||||chr22:g.27826127G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||1/1|ENST00000834900.1:n.141-371C>T|||||||rs978658698||-1||||||||||||Ensembl||G|G||||chr22:g.27826127G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||1/1|XR_001755624.2:n.2814-374C>T|||||||rs978658698||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27826127G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=8;gnomADv4_1_AC_joint_XX=2;gnomADv4_1_AC_joint_XY=6;gnomADv4_1_AF_grpmax_joint=0.000414766;gnomADv4_1_AF_joint=5.25831e-05;gnomADv4_1_AF_joint_XX=2.56984e-05;gnomADv4_1_AF_joint_XY=8.07385e-05;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152140;gnomADv4_1_AN_joint_XX=77826;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27826203 chr22_27826203_G_A G A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=4.389;CADD_Rawscore=0.399874;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||1/1|ENST00000834899.1:n.288-450C>T|||||||rs73164502||-1||||||||||||Ensembl||G|G||||chr22:g.27826203G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||1/1|ENST00000834900.1:n.141-447C>T|||||||rs73164502||-1||||||||||||Ensembl||G|G||||chr22:g.27826203G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||1/1|XR_001755624.2:n.2814-450C>T|||||||rs73164502||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27826203G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=16023;gnomADv4_1_AC_joint_XX=8232;gnomADv4_1_AC_joint_XY=7791;gnomADv4_1_AF_grpmax_joint=0.170068;gnomADv4_1_AF_joint=0.105247;gnomADv4_1_AF_joint_XX=0.105818;gnomADv4_1_AF_joint_XY=0.10465;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152242;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=944;gnomADv4_1_nhomalt_joint_XX=472;gnomADv4_1_nhomalt_joint_XY=472;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27827161 chr22_27827161_C_T C T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.035;CADD_Rawscore=-0.008801;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||1/1|ENST00000834899.1:n.287+480G>A|||||||rs7285525||-1||||||||||||Ensembl||C|C||||chr22:g.27827161C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||1/1|ENST00000834900.1:n.140+480G>A|||||||rs7285525||-1||||||||||||Ensembl||C|C||||chr22:g.27827161C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||1/1|XR_001755624.2:n.2813+480G>A|||||||rs7285525||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27827161C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=31681;gnomADv4_1_AC_joint_XX=16718;gnomADv4_1_AC_joint_XY=14963;gnomADv4_1_AF_grpmax_joint=0.355634;gnomADv4_1_AF_joint=0.228029;gnomADv4_1_AF_joint_XX=0.233472;gnomADv4_1_AF_joint_XY=0.22224;gnomADv4_1_AN_grpmax_joint=284;gnomADv4_1_AN_joint=138934;gnomADv4_1_AN_joint_XX=71606;gnomADv4_1_AN_joint_XY=67328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3747;gnomADv4_1_nhomalt_joint_XX=2025;gnomADv4_1_nhomalt_joint_XY=1722;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27828362 chr22_27828362_C_T C T 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.171;CADD_Rawscore=-0.46767;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs1883472|435|-1||||||||||||Ensembl||C|C||||chr22:g.27828362C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs1883472|582|-1||||||||||||Ensembl||C|C||||chr22:g.27828362C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA|1/2||XR_001755624.2:n.2092G>A||2092|||||rs1883472||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27828362C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=50361;gnomADv4_1_AC_joint_XX=25003;gnomADv4_1_AC_joint_XY=25358;gnomADv4_1_AF_grpmax_joint=0.488016;gnomADv4_1_AF_joint=0.331174;gnomADv4_1_AF_joint_XX=0.321582;gnomADv4_1_AF_joint_XY=0.341209;gnomADv4_1_AN_grpmax_joint=15270;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=10178;gnomADv4_1_nhomalt_joint_XX=4932;gnomADv4_1_nhomalt_joint_XY=5246;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27828495 chr22_27828495_A_G A G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.02;CADD_Rawscore=-1.05485;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs6519730|568|-1||||||||||||Ensembl||A|A||||chr22:g.27828495A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs6519730|715|-1||||||||||||Ensembl||A|A||||chr22:g.27828495A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA|1/2||XR_001755624.2:n.1959T>C||1959|||||rs6519730||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27828495A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=35001;gnomADv4_1_AC_joint_XX=18398;gnomADv4_1_AC_joint_XY=16603;gnomADv4_1_AF_grpmax_joint=0.346939;gnomADv4_1_AF_joint=0.230049;gnomADv4_1_AF_joint_XX=0.236533;gnomADv4_1_AF_joint_XY=0.223267;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4377;gnomADv4_1_nhomalt_joint_XX=2358;gnomADv4_1_nhomalt_joint_XY=2019;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27828806 chr22_27828806_A_G A G 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=2.031;CADD_Rawscore=0.168057;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs6005648|879|-1||||||||||||Ensembl||A|A||||chr22:g.27828806A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs6005648|1026|-1||||||||||||Ensembl||A|A||||chr22:g.27828806A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA|1/2||XR_001755624.2:n.1648T>C||1648|||||rs6005648||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27828806A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=34957;gnomADv4_1_AC_joint_XX=18376;gnomADv4_1_AC_joint_XY=16581;gnomADv4_1_AF_grpmax_joint=0.346939;gnomADv4_1_AF_joint=0.229962;gnomADv4_1_AF_joint_XX=0.236463;gnomADv4_1_AF_joint_XY=0.223163;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4365;gnomADv4_1_nhomalt_joint_XX=2350;gnomADv4_1_nhomalt_joint_XY=2015;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27829194 chr22_27829194_C_CA C CA 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=40;CADDIndel_PHREDscore=1.39;CADDIndel_Rawscore=0.068026;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs34706443|1267|-1||||||||||||Ensembl|||||||chr22:g.27829210dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs34706443|1414|-1||||||||||||Ensembl|||||||chr22:g.27829210dup|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA|1/2||XR_001755624.2:n.1259dup||1259-1260|||||rs34706443||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27829210dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=34211;gnomADv4_1_AC_joint_XX=18290;gnomADv4_1_AC_joint_XY=15921;gnomADv4_1_AF_grpmax_joint=0.438679;gnomADv4_1_AF_joint=0.306446;gnomADv4_1_AF_joint_XX=0.310084;gnomADv4_1_AF_joint_XY=0.30237;gnomADv4_1_AN_grpmax_joint=212;gnomADv4_1_AN_joint=111638;gnomADv4_1_AN_joint_XX=58984;gnomADv4_1_AN_joint_XY=52654;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4435;gnomADv4_1_nhomalt_joint_XX=2413;gnomADv4_1_nhomalt_joint_XY=2022;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27829211 chr22_27829211_C_G C G 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.697;CADD_Rawscore=0.120616;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs12159760|1284|-1||||||||||||Ensembl||C|C||||chr22:g.27829211C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs12159760|1431|-1||||||||||||Ensembl||C|C||||chr22:g.27829211C>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA|1/2||XR_001755624.2:n.1243G>C||1243|||||rs12159760||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27829211C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=34704;gnomADv4_1_AC_joint_XX=18381;gnomADv4_1_AC_joint_XY=16323;gnomADv4_1_AF_grpmax_joint=0.352518;gnomADv4_1_AF_joint=0.239672;gnomADv4_1_AF_joint_XX=0.247023;gnomADv4_1_AF_joint_XY=0.2319;gnomADv4_1_AN_grpmax_joint=278;gnomADv4_1_AN_joint=144798;gnomADv4_1_AN_joint_XX=74410;gnomADv4_1_AN_joint_XY=70388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4500;gnomADv4_1_nhomalt_joint_XX=2431;gnomADv4_1_nhomalt_joint_XY=2069;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27830464 chr22_27830464_A_AT A AT 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=1.002;CADDIndel_Rawscore=-0.017312;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs34847306|2537|-1||||||||||||Ensembl|||||||chr22:g.27830478dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs34847306|2684|-1||||||||||||Ensembl|||||||chr22:g.27830478dup|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs34847306|11|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27830478dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=19244;gnomADv4_1_AC_joint_XX=10147;gnomADv4_1_AC_joint_XY=9097;gnomADv4_1_AF_grpmax_joint=0.288806;gnomADv4_1_AF_joint=0.132194;gnomADv4_1_AF_joint_XX=0.135651;gnomADv4_1_AF_joint_XY=0.12854;gnomADv4_1_AN_grpmax_joint=39272;gnomADv4_1_AN_joint=145574;gnomADv4_1_AN_joint_XX=74802;gnomADv4_1_AN_joint_XY=70772;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2026;gnomADv4_1_nhomalt_joint_XX=1085;gnomADv4_1_nhomalt_joint_XY=941;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27831011 chr22_27831011_A_G A G 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.146;CADD_Rawscore=-0.510528;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs6005650|3084|-1||||||||||||Ensembl||A|A||||chr22:g.27831011A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs6005650|3231|-1||||||||||||Ensembl||A|A||||chr22:g.27831011A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs6005650|558|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27831011A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=51514;gnomADv4_1_AC_joint_XX=27150;gnomADv4_1_AC_joint_XY=24364;gnomADv4_1_AF_grpmax_joint=0.660583;gnomADv4_1_AF_joint=0.338734;gnomADv4_1_AF_joint_XX=0.349187;gnomADv4_1_AF_joint_XY=0.327799;gnomADv4_1_AN_grpmax_joint=41474;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=12008;gnomADv4_1_nhomalt_joint_XX=6354;gnomADv4_1_nhomalt_joint_XY=5654;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27831039 chr22_27831039_T_A T A 61 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=61;CADD_PHREDscore=0.358;CADD_Rawscore=-0.277142;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs5762371|3112|-1||||||||||||Ensembl||T|T||||chr22:g.27831039T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs5762371|3259|-1||||||||||||Ensembl||T|T||||chr22:g.27831039T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs5762371|586|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27831039T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=113228;gnomADv4_1_AC_joint_XX=57647;gnomADv4_1_AC_joint_XY=55581;gnomADv4_1_AF_grpmax_joint=0.871075;gnomADv4_1_AF_joint=0.744157;gnomADv4_1_AF_joint_XX=0.741193;gnomADv4_1_AF_joint_XY=0.747257;gnomADv4_1_AN_grpmax_joint=41528;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=42685;gnomADv4_1_nhomalt_joint_XX=21695;gnomADv4_1_nhomalt_joint_XY=20990;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27832023 chr22_27832023_C_CTG;chr22_27832023_C_G C CTG 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=37;CADDIndel_PHREDscore=0.539;CADDIndel_Rawscore=-0.174353;CSQ=TG|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs1165317284|4096|-1||||||||||||Ensembl|||||||chr22:g.27832050_27832051dup|||||||||||||,TG|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs1165317284|4243|-1||||||||||||Ensembl|||||||chr22:g.27832050_27832051dup|||||||||||||,TG|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs1165317284|1570|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.27832050_27832051dup|||||||||||||;TYPE=INDEL;VEP_Allele=TG,TG,TG;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=1397;gnomADv4_1_AC_joint_XX=709;gnomADv4_1_AC_joint_XY=688;gnomADv4_1_AF_grpmax_joint=0.0243796;gnomADv4_1_AF_joint=0.00945567;gnomADv4_1_AF_joint_XX=0.00936716;gnomADv4_1_AF_joint_XY=0.00954866;gnomADv4_1_AN_grpmax_joint=4594;gnomADv4_1_AN_joint=147742;gnomADv4_1_AN_joint_XX=75690;gnomADv4_1_AN_joint_XY=72052;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=13;gnomADv4_1_nhomalt_joint_XX=5;gnomADv4_1_nhomalt_joint_XY=8;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27832023 chr22_27832023_C_CTG;chr22_27832023_C_G C G 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=34;CADD_PHREDscore=0.067;CADD_Rawscore=-0.720758;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs6005651|4096|-1||||||||||||Ensembl||C|C||||chr22:g.27832023C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs6005651|4243|-1||||||||||||Ensembl||C|C||||chr22:g.27832023C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs6005651|1570|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27832023C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=21115;gnomADv4_1_AC_joint_XX=10918;gnomADv4_1_AC_joint_XY=10197;gnomADv4_1_AF_grpmax_joint=0.253209;gnomADv4_1_AF_joint=0.143168;gnomADv4_1_AF_joint_XX=0.144475;gnomADv4_1_AF_joint_XY=0.141794;gnomADv4_1_AN_grpmax_joint=39738;gnomADv4_1_AN_joint=147484;gnomADv4_1_AN_joint_XX=75570;gnomADv4_1_AN_joint_XY=71914;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1835;gnomADv4_1_nhomalt_joint_XX=948;gnomADv4_1_nhomalt_joint_XY=887;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27832050 chr22_27832050_TGAGA_T TGAGA T 25 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=25;CADDIndel_PHREDscore=0.96;CADDIndel_Rawscore=-0.028249;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs368115230|4124|-1||||||||||||Ensembl||GAGA|GAGA||||chr22:g.27832071_27832074del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs368115230|4271|-1||||||||||||Ensembl||GAGA|GAGA||||chr22:g.27832071_27832074del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs368115230|1598|-1||EntrezGene||||||||||RefSeq||GAGA|GAGA||||chr22:g.27832071_27832074del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=8532;gnomADv4_1_AC_joint_XX=4423;gnomADv4_1_AC_joint_XY=4109;gnomADv4_1_AF_grpmax_joint=0.108392;gnomADv4_1_AF_joint=0.0588365;gnomADv4_1_AF_joint_XX=0.0594122;gnomADv4_1_AF_joint_XY=0.0582292;gnomADv4_1_AN_grpmax_joint=286;gnomADv4_1_AN_joint=145012;gnomADv4_1_AN_joint_XX=74446;gnomADv4_1_AN_joint_XY=70566;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=260;gnomADv4_1_nhomalt_joint_XX=139;gnomADv4_1_nhomalt_joint_XY=121;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27832056 chr22_27832056_A_T A T 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=27;CADD_PHREDscore=0.227;CADD_Rawscore=-0.393928;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs376310959|4129|-1||||||||||||Ensembl||A|A||||chr22:g.27832056A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs376310959|4276|-1||||||||||||Ensembl||A|A||||chr22:g.27832056A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs376310959|1603|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27832056A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=8202;gnomADv4_1_AC_joint_XX=4299;gnomADv4_1_AC_joint_XY=3903;gnomADv4_1_AF_grpmax_joint=0.100746;gnomADv4_1_AF_joint=0.0591527;gnomADv4_1_AF_joint_XX=0.0605101;gnomADv4_1_AF_joint_XY=0.0577264;gnomADv4_1_AN_grpmax_joint=268;gnomADv4_1_AN_joint=138658;gnomADv4_1_AN_joint_XX=71046;gnomADv4_1_AN_joint_XY=67612;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=234;gnomADv4_1_nhomalt_joint_XX=122;gnomADv4_1_nhomalt_joint_XY=112;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27832198 chr22_27832198_A_C A C 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=3.775;CADD_Rawscore=0.345268;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs73166704|4271|-1||||||||||||Ensembl||A|A||||chr22:g.27832198A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs73166704|4418|-1||||||||||||Ensembl||A|A||||chr22:g.27832198A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs73166704|1745|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27832198A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=7130;gnomADv4_1_AC_joint_XX=3691;gnomADv4_1_AC_joint_XY=3439;gnomADv4_1_AF_grpmax_joint=0.105442;gnomADv4_1_AF_joint=0.0468303;gnomADv4_1_AF_joint_XX=0.047447;gnomADv4_1_AF_joint_XY=0.0461859;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152252;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=225;gnomADv4_1_nhomalt_joint_XX=117;gnomADv4_1_nhomalt_joint_XY=108;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27832769 chr22_27832769_GGC_G GGC G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=3.619;CADDIndel_Rawscore=0.33139;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs1301078853|4843|-1||||||||||||Ensembl||GC|GC||||chr22:g.27832770_27832771del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs1301078853|4990|-1||||||||||||Ensembl||GC|GC||||chr22:g.27832770_27832771del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs1301078853|2317|-1||EntrezGene||||||||||RefSeq||GC|GC||||chr22:g.27832770_27832771del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=33532;gnomADv4_1_AC_joint_XX=17625;gnomADv4_1_AC_joint_XY=15907;gnomADv4_1_AF_grpmax_joint=0.343537;gnomADv4_1_AF_joint=0.220527;gnomADv4_1_AF_joint_XX=0.226746;gnomADv4_1_AF_joint_XY=0.214022;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152054;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4006;gnomADv4_1_nhomalt_joint_XX=2167;gnomADv4_1_nhomalt_joint_XY=1839;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27832772 chr22_27832772_AACCCTGCCAGGCGAGC_A AACCCTGCCAGGCGAGC A 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADDIndel_PHREDscore=3.336;CADDIndel_Rawscore=0.305839;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834899|lncRNA||||||||||rs1400220819|4846|-1||||||||||||Ensembl||ACCCTGCCAGGCGAGC|ACCCTGCCAGGCGAGC||||chr22:g.27832773_27832788del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000308539|Transcript|ENST00000834900|lncRNA||||||||||rs1400220819|4993|-1||||||||||||Ensembl||ACCCTGCCAGGCGAGC|ACCCTGCCAGGCGAGC||||chr22:g.27832773_27832788del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs1400220819|2320|-1||EntrezGene||||||||||RefSeq||ACCCTGCCAGGCGAGC|ACCCTGCCAGGCGAGC||||chr22:g.27832773_27832788del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000834899,ENST00000834900,XR_001755624.2;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000308539,ENSG00000308539,107985529;VEP_SYMBOL=.,.,LOC107985529;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=33515;gnomADv4_1_AC_joint_XX=17625;gnomADv4_1_AC_joint_XY=15890;gnomADv4_1_AF_grpmax_joint=0.343537;gnomADv4_1_AF_joint=0.22038;gnomADv4_1_AF_joint_XX=0.226735;gnomADv4_1_AF_joint_XY=0.213736;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3998;gnomADv4_1_nhomalt_joint_XX=2165;gnomADv4_1_nhomalt_joint_XY=1833;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27833107 chr22_27833107_T_C T C 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.266;CADD_Rawscore=-0.352588;CSQ=C|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs13053424|2654|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27833107T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=XR_001755624.2;VEP_Feature_type=Transcript;VEP_Gene=107985529;VEP_SYMBOL=LOC107985529;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43083;gnomADv4_1_AC_joint_XX=22660;gnomADv4_1_AC_joint_XY=20423;gnomADv4_1_AF_grpmax_joint=0.46686;gnomADv4_1_AF_joint=0.283232;gnomADv4_1_AF_joint_XX=0.291507;gnomADv4_1_AF_joint_XY=0.274584;gnomADv4_1_AN_grpmax_joint=41460;gnomADv4_1_AN_joint=152112;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7356;gnomADv4_1_nhomalt_joint_XX=3900;gnomADv4_1_nhomalt_joint_XY=3456;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27833157 chr22_27833157_CT_C CT C 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=1.375;CADDIndel_Rawscore=0.065329;CSQ=-|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs35384088|2705|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.27833159del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=XR_001755624.2;VEP_Feature_type=Transcript;VEP_Gene=107985529;VEP_SYMBOL=LOC107985529;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33452;gnomADv4_1_AC_joint_XX=17585;gnomADv4_1_AC_joint_XY=15867;gnomADv4_1_AF_grpmax_joint=0.339041;gnomADv4_1_AF_joint=0.219966;gnomADv4_1_AF_joint_XX=0.226203;gnomADv4_1_AF_joint_XY=0.213444;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3961;gnomADv4_1_nhomalt_joint_XX=2138;gnomADv4_1_nhomalt_joint_XY=1823;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27833311 chr22_27833311_C_T C T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.068;CADD_Rawscore=0.172798;CSQ=T|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs11705114|2858|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27833311C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=XR_001755624.2;VEP_Feature_type=Transcript;VEP_Gene=107985529;VEP_SYMBOL=LOC107985529;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33579;gnomADv4_1_AC_joint_XX=17639;gnomADv4_1_AC_joint_XY=15940;gnomADv4_1_AF_grpmax_joint=0.343537;gnomADv4_1_AF_joint=0.220897;gnomADv4_1_AF_joint_XX=0.227002;gnomADv4_1_AF_joint_XY=0.214513;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3999;gnomADv4_1_nhomalt_joint_XX=2160;gnomADv4_1_nhomalt_joint_XY=1839;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27833405 chr22_27833405_C_T C T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.23;CADD_Rawscore=0.036122;CSQ=T|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs6005653|2952|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27833405C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=XR_001755624.2;VEP_Feature_type=Transcript;VEP_Gene=107985529;VEP_SYMBOL=LOC107985529;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43045;gnomADv4_1_AC_joint_XX=22637;gnomADv4_1_AC_joint_XY=20408;gnomADv4_1_AF_grpmax_joint=0.465245;gnomADv4_1_AF_joint=0.282949;gnomADv4_1_AF_joint_XX=0.291129;gnomADv4_1_AF_joint_XY=0.274397;gnomADv4_1_AN_grpmax_joint=41462;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7333;gnomADv4_1_nhomalt_joint_XX=3884;gnomADv4_1_nhomalt_joint_XY=3449;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27833633 chr22_27833633_AAC_A AAC A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=2.215;CADDIndel_Rawscore=0.191045;CSQ=-|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs3028829|3181|-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.27833637_27833638del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=XR_001755624.2;VEP_Feature_type=Transcript;VEP_Gene=107985529;VEP_SYMBOL=LOC107985529;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33397;gnomADv4_1_AC_joint_XX=17553;gnomADv4_1_AC_joint_XY=15844;gnomADv4_1_AF_grpmax_joint=0.343537;gnomADv4_1_AF_joint=0.219732;gnomADv4_1_AF_joint_XX=0.225902;gnomADv4_1_AF_joint_XY=0.213278;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3939;gnomADv4_1_nhomalt_joint_XX=2121;gnomADv4_1_nhomalt_joint_XY=1818;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27833842 chr22_27833842_A_G A G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.545;CADD_Rawscore=0.228547;CSQ=G|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs11704453|3389|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27833842A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=XR_001755624.2;VEP_Feature_type=Transcript;VEP_Gene=107985529;VEP_SYMBOL=LOC107985529;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=49512;gnomADv4_1_AC_joint_XX=26068;gnomADv4_1_AC_joint_XY=23444;gnomADv4_1_AF_grpmax_joint=0.613665;gnomADv4_1_AF_joint=0.325668;gnomADv4_1_AF_joint_XX=0.335521;gnomADv4_1_AF_joint_XY=0.31537;gnomADv4_1_AN_grpmax_joint=41420;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10705;gnomADv4_1_nhomalt_joint_XX=5664;gnomADv4_1_nhomalt_joint_XY=5041;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27834411 chr22_27834411_G_T G T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=3.829;CADD_Rawscore=0.350084;CSQ=T|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs951530746|3958|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.27834411G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=XR_001755624.2;VEP_Feature_type=Transcript;VEP_Gene=107985529;VEP_SYMBOL=LOC107985529;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33466;gnomADv4_1_AC_joint_XX=17585;gnomADv4_1_AC_joint_XY=15881;gnomADv4_1_AF_grpmax_joint=0.343537;gnomADv4_1_AF_joint=0.219966;gnomADv4_1_AF_joint_XX=0.226127;gnomADv4_1_AF_joint_XY=0.213523;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3965;gnomADv4_1_nhomalt_joint_XX=2135;gnomADv4_1_nhomalt_joint_XY=1830;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27834735 chr22_27834735_C_A C A 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.515;CADD_Rawscore=-0.185703;CSQ=A|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs73166707|4282|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27834735C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=XR_001755624.2;VEP_Feature_type=Transcript;VEP_Gene=107985529;VEP_SYMBOL=LOC107985529;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=7112;gnomADv4_1_AC_joint_XX=3683;gnomADv4_1_AC_joint_XY=3429;gnomADv4_1_AF_grpmax_joint=0.105442;gnomADv4_1_AF_joint=0.0466728;gnomADv4_1_AF_joint_XX=0.0473029;gnomADv4_1_AF_joint_XY=0.0460145;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152380;gnomADv4_1_AN_joint_XX=77860;gnomADv4_1_AN_joint_XY=74520;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=225;gnomADv4_1_nhomalt_joint_XX=117;gnomADv4_1_nhomalt_joint_XY=108;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27834964 chr22_27834964_C_T C T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.082;CADD_Rawscore=-0.665536;CSQ=T|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs73166710|4511|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.27834964C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=XR_001755624.2;VEP_Feature_type=Transcript;VEP_Gene=107985529;VEP_SYMBOL=LOC107985529;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=7130;gnomADv4_1_AC_joint_XX=3695;gnomADv4_1_AC_joint_XY=3435;gnomADv4_1_AF_grpmax_joint=0.105442;gnomADv4_1_AF_joint=0.0468161;gnomADv4_1_AF_joint_XX=0.047474;gnomADv4_1_AF_joint_XY=0.0461284;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152298;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74466;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=227;gnomADv4_1_nhomalt_joint_XX=119;gnomADv4_1_nhomalt_joint_XY=108;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27835282 chr22_27835282_A_G A G 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.802;CADD_Rawscore=-0.074514;CSQ=G|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs882455|4829|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27835282A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=XR_001755624.2;VEP_Feature_type=Transcript;VEP_Gene=107985529;VEP_SYMBOL=LOC107985529;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=104712;gnomADv4_1_AC_joint_XX=53145;gnomADv4_1_AC_joint_XY=51567;gnomADv4_1_AF_grpmax_joint=0.730323;gnomADv4_1_AF_joint=0.688188;gnomADv4_1_AF_joint_XX=0.683308;gnomADv4_1_AF_joint_XY=0.693291;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=36129;gnomADv4_1_nhomalt_joint_XX=18246;gnomADv4_1_nhomalt_joint_XY=17883;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27835363 chr22_27835363_A_G A G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.507;CADD_Rawscore=-0.189858;CSQ=G|upstream_gene_variant|MODIFIER|LOC107985529|107985529|Transcript|XR_001755624.2|lncRNA||||||||||rs882456|4910|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.27835363A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=XR_001755624.2;VEP_Feature_type=Transcript;VEP_Gene=107985529;VEP_SYMBOL=LOC107985529;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=53427;gnomADv4_1_AC_joint_XX=27676;gnomADv4_1_AC_joint_XY=25751;gnomADv4_1_AF_grpmax_joint=0.561476;gnomADv4_1_AF_joint=0.351138;gnomADv4_1_AF_joint_XX=0.355943;gnomADv4_1_AF_joint_XY=0.346116;gnomADv4_1_AN_grpmax_joint=41496;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10849;gnomADv4_1_nhomalt_joint_XX=5679;gnomADv4_1_nhomalt_joint_XY=5170;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27835515 chr22_27835515_T_C T C 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=1.425;CADD_Rawscore=0.074736;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs6005655|||||||||||||||||||||chr22:g.27835515T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=31556;gnomADv4_1_AC_joint_XX=15954;gnomADv4_1_AC_joint_XY=15602;gnomADv4_1_AF_grpmax_joint=0.348244;gnomADv4_1_AF_joint=0.207747;gnomADv4_1_AF_joint_XX=0.205455;gnomADv4_1_AF_joint_XY=0.210145;gnomADv4_1_AN_grpmax_joint=41402;gnomADv4_1_AN_joint=151896;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74244;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4017;gnomADv4_1_nhomalt_joint_XX=2008;gnomADv4_1_nhomalt_joint_XY=2009;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27836395 chr22_27836395_C_T C T 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=18.01;CADD_Rawscore=2.2762;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F3BH|enhancer||||||||||rs5997314|||||||||||||||||||||chr22:g.27836395C>T|||||||||||||,T|intergenic_variant|MODIFIER|||||||||||||||rs5997314|||||||||||||||||||||chr22:g.27836395C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENSR22_9F3BH,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=61373;gnomADv4_1_AC_joint_XX=31913;gnomADv4_1_AC_joint_XY=29460;gnomADv4_1_AF_grpmax_joint=0.748499;gnomADv4_1_AF_joint=0.404456;gnomADv4_1_AF_joint_XX=0.411261;gnomADv4_1_AF_joint_XY=0.397335;gnomADv4_1_AN_grpmax_joint=41312;gnomADv4_1_AN_joint=151742;gnomADv4_1_AN_joint_XX=77598;gnomADv4_1_AN_joint_XY=74144;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=15993;gnomADv4_1_nhomalt_joint_XX=8386;gnomADv4_1_nhomalt_joint_XY=7607;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27837317 chr22_27837317_T_A T A 17 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=17;CADD_PHREDscore=0.412;CADD_Rawscore=-0.241729;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs12159838|||||||||||||||||||||chr22:g.27837317T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=55925;gnomADv4_1_AC_joint_XX=29315;gnomADv4_1_AC_joint_XY=26610;gnomADv4_1_AF_grpmax_joint=0.776836;gnomADv4_1_AF_joint=0.500896;gnomADv4_1_AF_joint_XX=0.50585;gnomADv4_1_AF_joint_XY=0.495549;gnomADv4_1_AN_grpmax_joint=35754;gnomADv4_1_AN_joint=111650;gnomADv4_1_AN_joint_XX=57952;gnomADv4_1_AN_joint_XY=53698;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=14558;gnomADv4_1_nhomalt_joint_XX=7655;gnomADv4_1_nhomalt_joint_XY=6903;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27837341 chr22_27837341_G_GAGAAAGAA;chr22_27837341_GAGAAAGAA_G G GAGAAAGAA 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=.;AF_XY=0.5;AN=4;AN_XX=0;AN_XY=4;AQ=36;CADDIndel_PHREDscore=0.885;CADDIndel_Rawscore=-0.049264;CSQ=AGAAAGAA|intergenic_variant|MODIFIER|||||||||||||||rs58905252|||||||||||||||||||||chr22:g.27837385_27837392dup|||||||||||||;TYPE=INDEL;VEP_Allele=AGAAAGAA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=4068;gnomADv4_1_AC_joint_XX=2143;gnomADv4_1_AC_joint_XY=1925;gnomADv4_1_AF_grpmax_joint=0.042905;gnomADv4_1_AF_joint=0.0404085;gnomADv4_1_AF_joint_XX=0.0397161;gnomADv4_1_AF_joint_XY=0.0412082;gnomADv4_1_AN_grpmax_joint=9556;gnomADv4_1_AN_joint=100672;gnomADv4_1_AN_joint_XX=53958;gnomADv4_1_AN_joint_XY=46714;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=113;gnomADv4_1_nhomalt_joint_XX=60;gnomADv4_1_nhomalt_joint_XY=53;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27837341 chr22_27837341_G_GAGAAAGAA;chr22_27837341_GAGAAAGAA_G GAGAAAGAA G 36 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=15;CADDIndel_PHREDscore=0.728;CADDIndel_Rawscore=-0.099058;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs58905252|||||||||||||||||||||chr22:g.27837385_27837392del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=7439;gnomADv4_1_AC_joint_XX=3985;gnomADv4_1_AC_joint_XY=3454;gnomADv4_1_AF_grpmax_joint=0.128816;gnomADv4_1_AF_joint=0.0739067;gnomADv4_1_AF_joint_XX=0.0738428;gnomADv4_1_AF_joint_XY=0.0739805;gnomADv4_1_AN_grpmax_joint=3734;gnomADv4_1_AN_joint=100654;gnomADv4_1_AN_joint_XX=53966;gnomADv4_1_AN_joint_XY=46688;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=298;gnomADv4_1_nhomalt_joint_XX=141;gnomADv4_1_nhomalt_joint_XY=157;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27837434 chr22_27837434_G_GAGGA;chr22_27837434_G_GAGGAAGGA G GAGGA 30 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADDIndel_PHREDscore=0.78;CADDIndel_Rawscore=-0.081586;CSQ=AGGA|intergenic_variant|MODIFIER|||||||||||||||rs60229813|||||||||||||||||||||chr22:g.27837472_27837475dup|||||||||||||;TYPE=INDEL;VEP_Allele=AGGA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=51276;gnomADv4_1_AC_joint_XX=26837;gnomADv4_1_AC_joint_XY=24439;gnomADv4_1_AF_grpmax_joint=0.549877;gnomADv4_1_AF_joint=0.398731;gnomADv4_1_AF_joint_XX=0.397209;gnomADv4_1_AF_joint_XY=0.400416;gnomADv4_1_AN_grpmax_joint=12150;gnomADv4_1_AN_joint=128598;gnomADv4_1_AN_joint_XX=67564;gnomADv4_1_AN_joint_XY=61034;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=12290;gnomADv4_1_nhomalt_joint_XX=6436;gnomADv4_1_nhomalt_joint_XY=5854;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 27837434 chr22_27837434_G_GAGGA;chr22_27837434_G_GAGGAAGGA G GAGGAAGGA 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=23;CADDIndel_PHREDscore=0.723;CADDIndel_Rawscore=-0.100791;CSQ=AGGAAGGA|intergenic_variant|MODIFIER|||||||||||||||rs60229813|||||||||||||||||||||chr22:g.27837468_27837475dup|||||||||||||;TYPE=INDEL;VEP_Allele=AGGAAGGA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15946;gnomADv4_1_AC_joint_XX=8399;gnomADv4_1_AC_joint_XY=7547;gnomADv4_1_AF_grpmax_joint=0.161336;gnomADv4_1_AF_joint=0.123776;gnomADv4_1_AF_joint_XX=0.124132;gnomADv4_1_AF_joint_XY=0.123382;gnomADv4_1_AN_grpmax_joint=3502;gnomADv4_1_AN_joint=128830;gnomADv4_1_AN_joint_XX=67662;gnomADv4_1_AN_joint_XY=61168;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1201;gnomADv4_1_nhomalt_joint_XX=627;gnomADv4_1_nhomalt_joint_XY=574;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27837936 chr22_27837936_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=2.068;CADD_Rawscore=0.172745;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs1004235|||||||||||||||||||||chr22:g.27837936G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=63998;gnomADv4_1_AC_joint_XX=32821;gnomADv4_1_AC_joint_XY=31177;gnomADv4_1_AF_grpmax_joint=0.620203;gnomADv4_1_AF_joint=0.421056;gnomADv4_1_AF_joint_XX=0.422428;gnomADv4_1_AF_joint_XY=0.419621;gnomADv4_1_AN_grpmax_joint=41430;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=14671;gnomADv4_1_nhomalt_joint_XX=7553;gnomADv4_1_nhomalt_joint_XY=7118;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27838178 chr22_27838178_A_T A T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=8.569;CADD_Rawscore=0.829744;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs6005656|||||||||||||||||||||chr22:g.27838178A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=69602;gnomADv4_1_AC_joint_XX=35961;gnomADv4_1_AC_joint_XY=33641;gnomADv4_1_AF_grpmax_joint=0.75983;gnomADv4_1_AF_joint=0.458584;gnomADv4_1_AF_joint_XX=0.463224;gnomADv4_1_AF_joint_XY=0.453725;gnomADv4_1_AN_grpmax_joint=41354;gnomADv4_1_AN_joint=151776;gnomADv4_1_AN_joint_XX=77632;gnomADv4_1_AN_joint_XY=74144;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18621;gnomADv4_1_nhomalt_joint_XX=9691;gnomADv4_1_nhomalt_joint_XY=8930;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27838359 chr22_27838359_T_C T C 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.36;CADD_Rawscore=0.062342;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs4820778|||||||||||||||||||||chr22:g.27838359T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=69932;gnomADv4_1_AC_joint_XX=36117;gnomADv4_1_AC_joint_XY=33815;gnomADv4_1_AF_grpmax_joint=0.75997;gnomADv4_1_AF_joint=0.46017;gnomADv4_1_AF_joint_XX=0.46485;gnomADv4_1_AF_joint_XY=0.455274;gnomADv4_1_AN_grpmax_joint=41424;gnomADv4_1_AN_joint=151970;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18725;gnomADv4_1_nhomalt_joint_XX=9742;gnomADv4_1_nhomalt_joint_XY=8983;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27838379 chr22_27838379_T_A T A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.097;CADD_Rawscore=0.176561;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs4820779|||||||||||||||||||||chr22:g.27838379T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70182;gnomADv4_1_AC_joint_XX=36229;gnomADv4_1_AC_joint_XY=33953;gnomADv4_1_AF_grpmax_joint=0.765722;gnomADv4_1_AF_joint=0.461602;gnomADv4_1_AF_joint_XX=0.466112;gnomADv4_1_AF_joint_XY=0.456886;gnomADv4_1_AN_grpmax_joint=41438;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18920;gnomADv4_1_nhomalt_joint_XX=9829;gnomADv4_1_nhomalt_joint_XY=9091;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27838771 chr22_27838771_T_C T C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=4.507;CADD_Rawscore=0.410553;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs113923511|||||||||||||||||||||chr22:g.27838771T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=7073;gnomADv4_1_AC_joint_XX=3668;gnomADv4_1_AC_joint_XY=3405;gnomADv4_1_AF_grpmax_joint=0.0884354;gnomADv4_1_AF_joint=0.0464528;gnomADv4_1_AF_joint_XX=0.0471405;gnomADv4_1_AF_joint_XY=0.0457342;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152262;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=217;gnomADv4_1_nhomalt_joint_XX=116;gnomADv4_1_nhomalt_joint_XY=101;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27838777 chr22_27838777_C_T C T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.267;CADD_Rawscore=0.043754;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs112288538|||||||||||||||||||||chr22:g.27838777C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=7051;gnomADv4_1_AC_joint_XX=3657;gnomADv4_1_AC_joint_XY=3394;gnomADv4_1_AF_grpmax_joint=0.0884354;gnomADv4_1_AF_joint=0.0463339;gnomADv4_1_AF_joint_XX=0.0470051;gnomADv4_1_AF_joint_XY=0.0456318;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152178;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=216;gnomADv4_1_nhomalt_joint_XX=115;gnomADv4_1_nhomalt_joint_XY=101;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27839340 chr22_27839340_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.853;CADD_Rawscore=-0.058606;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs73166726|||||||||||||||||||||chr22:g.27839340C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=4531;gnomADv4_1_AC_joint_XX=2386;gnomADv4_1_AC_joint_XY=2145;gnomADv4_1_AF_grpmax_joint=0.0513699;gnomADv4_1_AF_joint=0.0297587;gnomADv4_1_AF_joint_XX=0.0306621;gnomADv4_1_AF_joint_XY=0.0288144;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152258;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=98;gnomADv4_1_nhomalt_joint_XX=47;gnomADv4_1_nhomalt_joint_XY=51;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27839802 chr22_27839802_A_C A C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.12;CADD_Rawscore=0.011585;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs722343|||||||||||||||||||||chr22:g.27839802A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=40508;gnomADv4_1_AC_joint_XX=20572;gnomADv4_1_AC_joint_XY=19936;gnomADv4_1_AF_grpmax_joint=0.450946;gnomADv4_1_AF_joint=0.266468;gnomADv4_1_AF_joint_XX=0.264667;gnomADv4_1_AF_joint_XY=0.268354;gnomADv4_1_AN_grpmax_joint=41424;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6471;gnomADv4_1_nhomalt_joint_XX=3311;gnomADv4_1_nhomalt_joint_XY=3160;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27839889 chr22_27839889_C_T C T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=3.755;CADD_Rawscore=0.343523;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs1557797|||||||||||||||||||||chr22:g.27839889C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=64255;gnomADv4_1_AC_joint_XX=32221;gnomADv4_1_AC_joint_XY=32034;gnomADv4_1_AF_grpmax_joint=0.651901;gnomADv4_1_AF_joint=0.426609;gnomADv4_1_AF_joint_XX=0.418129;gnomADv4_1_AF_joint_XY=0.435493;gnomADv4_1_AN_grpmax_joint=4786;gnomADv4_1_AN_joint=150618;gnomADv4_1_AN_joint_XX=77060;gnomADv4_1_AN_joint_XY=73558;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=14080;gnomADv4_1_nhomalt_joint_XX=6887;gnomADv4_1_nhomalt_joint_XY=7193;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27839892 chr22_27839892_G_A G A 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.138;CADD_Rawscore=-0.525563;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs722342|||||||||||||||||||||chr22:g.27839892G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=64747;gnomADv4_1_AC_joint_XX=32435;gnomADv4_1_AC_joint_XY=32312;gnomADv4_1_AF_grpmax_joint=0.652772;gnomADv4_1_AF_joint=0.428737;gnomADv4_1_AF_joint_XX=0.419729;gnomADv4_1_AF_joint_XY=0.438176;gnomADv4_1_AN_grpmax_joint=4798;gnomADv4_1_AN_joint=151018;gnomADv4_1_AN_joint_XX=77276;gnomADv4_1_AN_joint_XY=73742;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=14382;gnomADv4_1_nhomalt_joint_XX=7020;gnomADv4_1_nhomalt_joint_XY=7362;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27839894 chr22_27839894_G_GCACACA G GCACACA 34 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=0.714;CADDIndel_Rawscore=-0.103783;CSQ=CACACA|intergenic_variant|MODIFIER|||||||||||||||rs3028850|||||||||||||||||||||chr22:g.27839904_27839909dup|||||||||||||;TYPE=INDEL;VEP_Allele=CACACA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=64211;gnomADv4_1_AC_joint_XX=32204;gnomADv4_1_AC_joint_XY=32007;gnomADv4_1_AF_grpmax_joint=0.628387;gnomADv4_1_AF_joint=0.425594;gnomADv4_1_AF_joint_XX=0.417107;gnomADv4_1_AF_joint_XY=0.434488;gnomADv4_1_AN_grpmax_joint=4798;gnomADv4_1_AN_joint=150874;gnomADv4_1_AN_joint_XX=77208;gnomADv4_1_AN_joint_XY=73666;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=14038;gnomADv4_1_nhomalt_joint_XX=6876;gnomADv4_1_nhomalt_joint_XY=7162;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 27839914 chr22_27839914_C_T C T 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADD_PHREDscore=0.673;CADD_Rawscore=-0.118977;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762375|||||||||||||||||||||chr22:g.27839914C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15498;gnomADv4_1_AC_joint_XX=7864;gnomADv4_1_AC_joint_XY=7634;gnomADv4_1_AF_grpmax_joint=0.243561;gnomADv4_1_AF_joint=0.114184;gnomADv4_1_AF_joint_XX=0.112504;gnomADv4_1_AF_joint_XY=0.115969;gnomADv4_1_AN_grpmax_joint=4426;gnomADv4_1_AN_joint=135728;gnomADv4_1_AN_joint_XX=69900;gnomADv4_1_AN_joint_XY=65828;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1080;gnomADv4_1_nhomalt_joint_XX=518;gnomADv4_1_nhomalt_joint_XY=562;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27840687 chr22_27840687_G_T G T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.058;CADD_Rawscore=-0.757022;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762376|||||||||||||||||||||chr22:g.27840687G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38927;gnomADv4_1_AC_joint_XX=19512;gnomADv4_1_AC_joint_XY=19415;gnomADv4_1_AF_grpmax_joint=0.399084;gnomADv4_1_AF_joint=0.256227;gnomADv4_1_AF_joint_XX=0.251223;gnomADv4_1_AF_joint_XY=0.26146;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=151924;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5184;gnomADv4_1_nhomalt_joint_XX=2550;gnomADv4_1_nhomalt_joint_XY=2634;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27840849 chr22_27840849_G_C G C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.14;CADD_Rawscore=-0.521343;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762378|||||||||||||||||||||chr22:g.27840849G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=28211;gnomADv4_1_AC_joint_XX=14504;gnomADv4_1_AC_joint_XY=13707;gnomADv4_1_AF_grpmax_joint=0.295918;gnomADv4_1_AF_joint=0.185457;gnomADv4_1_AF_joint_XX=0.186508;gnomADv4_1_AF_joint_XY=0.184358;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2711;gnomADv4_1_nhomalt_joint_XX=1382;gnomADv4_1_nhomalt_joint_XY=1329;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27842421 chr22_27842421_C_G C G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.164;CADD_Rawscore=-0.479242;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5752646|||||||||||||||||||||chr22:g.27842421C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=17493;gnomADv4_1_AC_joint_XX=8770;gnomADv4_1_AC_joint_XY=8723;gnomADv4_1_AF_grpmax_joint=0.300428;gnomADv4_1_AF_joint=0.11499;gnomADv4_1_AF_joint_XX=0.112757;gnomADv4_1_AF_joint_XY=0.117327;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1265;gnomADv4_1_nhomalt_joint_XX=611;gnomADv4_1_nhomalt_joint_XY=654;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27844382 chr22_27844382_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.114;CADD_Rawscore=-0.576978;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs2880842|||||||||||||||||||||chr22:g.27844382C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=74861;gnomADv4_1_AC_joint_XX=37650;gnomADv4_1_AC_joint_XY=37211;gnomADv4_1_AF_grpmax_joint=0.643942;gnomADv4_1_AF_joint=0.493103;gnomADv4_1_AF_joint_XX=0.485155;gnomADv4_1_AF_joint_XY=0.501415;gnomADv4_1_AN_grpmax_joint=5134;gnomADv4_1_AN_joint=151816;gnomADv4_1_AN_joint_XX=77604;gnomADv4_1_AN_joint_XY=74212;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18852;gnomADv4_1_nhomalt_joint_XX=9319;gnomADv4_1_nhomalt_joint_XY=9533;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27845038 chr22_27845038_G_C G C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=7.169;CADD_Rawscore=0.676569;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs377472273|||||||||||||||||||||chr22:g.27845038G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=828;gnomADv4_1_AC_joint_XX=436;gnomADv4_1_AC_joint_XY=392;gnomADv4_1_AF_grpmax_joint=0.00846909;gnomADv4_1_AF_joint=0.00543778;gnomADv4_1_AF_joint_XX=0.00560224;gnomADv4_1_AF_joint_XY=0.00526584;gnomADv4_1_AN_grpmax_joint=68012;gnomADv4_1_AN_joint=152268;gnomADv4_1_AN_joint_XX=77826;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27845469 chr22_27845469_T_C T C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=2.161;CADD_Rawscore=0.184465;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F3F5|enhancer||||||||||rs5752647|||||||||||||||||||||chr22:g.27845469T>C|||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs5752647|||||||||||||||||||||chr22:g.27845469T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENSR22_9F3F5,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=41434;gnomADv4_1_AC_joint_XX=20858;gnomADv4_1_AC_joint_XY=20576;gnomADv4_1_AF_grpmax_joint=0.431695;gnomADv4_1_AF_joint=0.272574;gnomADv4_1_AF_joint_XX=0.268436;gnomADv4_1_AF_joint_XY=0.276902;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=152010;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5866;gnomADv4_1_nhomalt_joint_XX=2907;gnomADv4_1_nhomalt_joint_XY=2959;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27845595 chr22_27845595_CAA_C CAA C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.874;CADDIndel_Rawscore=-0.052588;CSQ=-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F3F5|enhancer||||||||||rs149864856|||||||||||||||||||||chr22:g.27845599_27845600del|||||||||||||,-|intergenic_variant|MODIFIER|||||||||||||||rs149864856|||||||||||||||||||||chr22:g.27845599_27845600del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENSR22_9F3F5,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=20144;gnomADv4_1_AC_joint_XX=10006;gnomADv4_1_AC_joint_XY=10138;gnomADv4_1_AF_grpmax_joint=0.25052;gnomADv4_1_AF_joint=0.132439;gnomADv4_1_AF_joint_XX=0.128718;gnomADv4_1_AF_joint_XY=0.136329;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1457;gnomADv4_1_nhomalt_joint_XX=677;gnomADv4_1_nhomalt_joint_XY=780;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27846258 chr22_27846258_A_C A C 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=6.705;CADD_Rawscore=0.6264;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762379|||||||||||||||||||||chr22:g.27846258A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=14673;gnomADv4_1_AC_joint_XX=7460;gnomADv4_1_AC_joint_XY=7213;gnomADv4_1_AF_grpmax_joint=0.197279;gnomADv4_1_AF_joint=0.096401;gnomADv4_1_AF_joint_XX=0.0958844;gnomADv4_1_AF_joint_XY=0.0969411;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152208;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=785;gnomADv4_1_nhomalt_joint_XX=384;gnomADv4_1_nhomalt_joint_XY=401;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27848203 chr22_27848203_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.05;CADD_Rawscore=-0.797859;CSQ=T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||||||||||rs11090516|3467|-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||C|C||||chr22:g.27848203C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||||||||||rs11090516|3466|-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||C|C||||chr22:g.27848203C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||||||||||rs11090516|3466|-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||C|C||||chr22:g.27848203C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||||||||||rs11090516|3466|-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||C|C||||chr22:g.27848203C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||||||||||rs11090516|3466|-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||C|C||||chr22:g.27848203C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||||||||||rs11090516|3466|-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||C|C||||chr22:g.27848203C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||||||||||rs11090516|3466|-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||C|C||||chr22:g.27848203C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000320996,ENST00000335272,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32313;gnomADv4_1_AC_joint_XX=16232;gnomADv4_1_AC_joint_XY=16081;gnomADv4_1_AF_grpmax_joint=0.368672;gnomADv4_1_AF_joint=0.21234;gnomADv4_1_AF_joint_XX=0.208605;gnomADv4_1_AF_joint_XY=0.216247;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152176;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3592;gnomADv4_1_nhomalt_joint_XX=1735;gnomADv4_1_nhomalt_joint_XY=1857;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27849393 chr22_27849393_GTT_G GTT G 11 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=11;CADDIndel_PHREDscore=0.732;CADDIndel_Rawscore=-0.097632;CSQ=-|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||||||||||rs34495070|2275|-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||TT|TT||||chr22:g.27849415_27849416del|||||||||||||,-|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||||||||||rs34495070|2274|-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||TT|TT||||chr22:g.27849415_27849416del|||||||||||||,-|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||||||||||rs34495070|4184|-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||TT|TT||||chr22:g.27849415_27849416del|||||||||||||,-|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||||||||||rs34495070|2274|-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||TT|TT||||chr22:g.27849415_27849416del|||||||||||||,-|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||||||||||rs34495070|2274|-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||TT|TT||||chr22:g.27849415_27849416del|||||||||||||,-|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||||||||||rs34495070|2274|-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||TT|TT||||chr22:g.27849415_27849416del|||||||||||||,-|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||||||||||rs34495070|2274|-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||TT|TT||||chr22:g.27849415_27849416del|||||||||||||,-|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||||||||||rs34495070|2274|-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||TT|TT||||chr22:g.27849415_27849416del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15758;gnomADv4_1_AC_joint_XX=8408;gnomADv4_1_AC_joint_XY=7350;gnomADv4_1_AF_grpmax_joint=0.19818;gnomADv4_1_AF_joint=0.158764;gnomADv4_1_AF_joint_XX=0.156644;gnomADv4_1_AF_joint_XY=0.161262;gnomADv4_1_AN_grpmax_joint=2528;gnomADv4_1_AN_joint=99254;gnomADv4_1_AN_joint_XX=53676;gnomADv4_1_AN_joint_XY=45578;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=488;gnomADv4_1_nhomalt_joint_XX=227;gnomADv4_1_nhomalt_joint_XY=261;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27849505 chr22_27849505_A_C A C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.462;CADD_Rawscore=0.081373;CSQ=C|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||||||||||rs6005660|2165|-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||A|A||||chr22:g.27849505A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||||||||||rs6005660|2164|-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||A|A||||chr22:g.27849505A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||||||||||rs6005660|4074|-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||A|A||||chr22:g.27849505A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||||||||||rs6005660|2164|-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||A|A||||chr22:g.27849505A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||||||||||rs6005660|2164|-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||A|A||||chr22:g.27849505A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||||||||||rs6005660|2164|-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||A|A||||chr22:g.27849505A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||||||||||rs6005660|2164|-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||A|A||||chr22:g.27849505A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||||||||||rs6005660|2164|-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||A|A||||chr22:g.27849505A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14616;gnomADv4_1_AC_joint_XX=7421;gnomADv4_1_AC_joint_XY=7195;gnomADv4_1_AF_grpmax_joint=0.197279;gnomADv4_1_AF_joint=0.098044;gnomADv4_1_AF_joint_XX=0.0971997;gnomADv4_1_AF_joint_XY=0.0989303;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=149076;gnomADv4_1_AN_joint_XX=76348;gnomADv4_1_AN_joint_XY=72728;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=782;gnomADv4_1_nhomalt_joint_XX=383;gnomADv4_1_nhomalt_joint_XY=399;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27850656 chr22_27850656_C_T C T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.527;CADD_Rawscore=-0.179867;CSQ=T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||||||||||rs5762384|1014|-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||C|C||||chr22:g.27850656C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||||||||||rs5762384|1013|-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||C|C||||chr22:g.27850656C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||||||||||rs5762384|4250|-1||HGNC|HGNC:9002|5||||||||Ensembl||C|C||||chr22:g.27850656C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||||||||||rs5762384|2923|-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||C|C||||chr22:g.27850656C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||||||||||rs5762384|1013|-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||C|C||||chr22:g.27850656C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||||||||||rs5762384|1013|-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||C|C||||chr22:g.27850656C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||||||||||rs5762384|1013|-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||C|C||||chr22:g.27850656C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||||||||||rs5762384|1013|-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||C|C||||chr22:g.27850656C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||||||||||rs5762384|1013|-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||C|C||||chr22:g.27850656C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14761;gnomADv4_1_AC_joint_XX=7483;gnomADv4_1_AC_joint_XY=7278;gnomADv4_1_AF_grpmax_joint=0.197279;gnomADv4_1_AF_joint=0.0970136;gnomADv4_1_AF_joint_XX=0.0962048;gnomADv4_1_AF_joint_XY=0.0978594;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=794;gnomADv4_1_nhomalt_joint_XX=386;gnomADv4_1_nhomalt_joint_XY=408;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27850690 chr22_27850690_G_A G A 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.786;CADD_Rawscore=-0.079628;CSQ=A|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||||||||||rs5762385|980|-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||G|G||||chr22:g.27850690G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||||||||||rs5762385|979|-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||G|G||||chr22:g.27850690G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||||||||||rs5762385|4216|-1||HGNC|HGNC:9002|5||||||||Ensembl||G|G||||chr22:g.27850690G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||||||||||rs5762385|2889|-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||G|G||||chr22:g.27850690G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||||||||||rs5762385|979|-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||G|G||||chr22:g.27850690G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||||||||||rs5762385|979|-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||G|G||||chr22:g.27850690G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||||||||||rs5762385|979|-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||G|G||||chr22:g.27850690G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||||||||||rs5762385|979|-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||G|G||||chr22:g.27850690G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||||||||||rs5762385|979|-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||G|G||||chr22:g.27850690G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14732;gnomADv4_1_AC_joint_XX=7465;gnomADv4_1_AC_joint_XY=7267;gnomADv4_1_AF_grpmax_joint=0.197279;gnomADv4_1_AF_joint=0.0967886;gnomADv4_1_AF_joint_XX=0.0959586;gnomADv4_1_AF_joint_XY=0.0976564;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152208;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=790;gnomADv4_1_nhomalt_joint_XX=384;gnomADv4_1_nhomalt_joint_XY=406;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27850873 chr22_27850873_T_C T C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.884;CADD_Rawscore=-0.049572;CSQ=C|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||||||||||rs5752648|797|-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||T|T||||chr22:g.27850873T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||||||||||rs5752648|796|-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||T|T||||chr22:g.27850873T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||||||||||rs5752648|4033|-1||HGNC|HGNC:9002|5||||||||Ensembl||T|T||||chr22:g.27850873T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||||||||||rs5752648|2706|-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||T|T||||chr22:g.27850873T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||||||||||rs5752648|796|-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||T|T||||chr22:g.27850873T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||||||||||rs5752648|796|-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||T|T||||chr22:g.27850873T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||||||||||rs5752648|796|-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||T|T||||chr22:g.27850873T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||||||||||rs5752648|796|-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||T|T||||chr22:g.27850873T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||||||||||rs5752648|796|-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||T|T||||chr22:g.27850873T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14826;gnomADv4_1_AC_joint_XX=7511;gnomADv4_1_AC_joint_XY=7315;gnomADv4_1_AF_grpmax_joint=0.20068;gnomADv4_1_AF_joint=0.097419;gnomADv4_1_AF_joint_XX=0.0965648;gnomADv4_1_AF_joint_XY=0.098312;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152188;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=800;gnomADv4_1_nhomalt_joint_XX=389;gnomADv4_1_nhomalt_joint_XY=411;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27851785 chr22_27851785_C_CA C CA 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=15.92;CADDIndel_Rawscore=1.82491;CSQ=A|3_prime_UTR_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding|11/11||ENST00000320996.14:c.*1827dup||2710-2711|||||rs1482549475||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl|||||||chr22:g.27851788dup|||||||||||||,A|3_prime_UTR_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding|12/12||ENST00000335272.10:c.*1916dup||2797-2798|||||rs1482549475||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl|||||||chr22:g.27851788dup|||||||||||||,A|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||||||||||rs1482549475|3120|-1||HGNC|HGNC:9002|5||||||||Ensembl|||||||chr22:g.27851788dup|||||||||||||,A|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||||||||||rs1482549475|1793|-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl|||||||chr22:g.27851788dup|||||||||||||,A|3_prime_UTR_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding|11/11||NM_001284277.2:c.*1827dup||2711-2712|||||rs1482549475||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq|||||||chr22:g.27851788dup|||||||||||||,A|3_prime_UTR_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding|12/12||NM_001284278.2:c.*1916dup||2867-2868|||||rs1482549475||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq|||||||chr22:g.27851788dup|||||||||||||,A|3_prime_UTR_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding|12/12||NM_012399.5:c.*1916dup||2797-2798|||||rs1482549475||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq|||||||chr22:g.27851788dup|||||||||||||,A|3_prime_UTR_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding|11/11||XM_011530052.3:c.*1827dup||2781-2782|||||rs1482549475||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq|||||||chr22:g.27851788dup|||||||||||||,A|3_prime_UTR_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding|11/11||XM_047441269.1:c.*1827dup||2661-2662|||||rs1482549475||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq|||||||chr22:g.27851788dup|||||||||||||;SpliceAI=CA|PITPNB|0.00|0.00|0.00|0.00|-16|-32|-12|-18;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30;gnomADv4_1_AC_joint_XX=16;gnomADv4_1_AC_joint_XY=14;gnomADv4_1_AF_grpmax_joint=5.87872e-05;gnomADv4_1_AF_joint=0.000197135;gnomADv4_1_AF_joint_XX=0.000205545;gnomADv4_1_AF_joint_XY=0.000188329;gnomADv4_1_AN_grpmax_joint=68042;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27852852 chr22_27852852_C_T C T 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=1.486;CADD_Rawscore=0.085727;CSQ=T|3_prime_UTR_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding|11/11||ENST00000320996.14:c.*761G>A||1644|||||rs1062731||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||C|C||||chr22:g.27852852C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding|12/12||ENST00000335272.10:c.*850G>A||1731|||||rs1062731||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||C|C||||chr22:g.27852852C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||||||||||rs1062731|2054|-1||HGNC|HGNC:9002|5||||||||Ensembl||C|C||||chr22:g.27852852C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||||||||||rs1062731|727|-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||C|C||||chr22:g.27852852C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding|11/11||NM_001284277.2:c.*761G>A||1645|||||rs1062731||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||C|C||||chr22:g.27852852C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding|12/12||NM_001284278.2:c.*850G>A||1801|||||rs1062731||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||C|C||||chr22:g.27852852C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding|12/12||NM_012399.5:c.*850G>A||1731|||||rs1062731||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||C|C||||chr22:g.27852852C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding|11/11||XM_011530052.3:c.*761G>A||1715|||||rs1062731||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||C|C||||chr22:g.27852852C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding|11/11||XM_047441269.1:c.*761G>A||1595|||||rs1062731||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||C|C||||chr22:g.27852852C>T|||||||||||||;SpliceAI=T|PITPNB|0.00|0.00|0.00|0.00|-8|45|43|-13;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32562;gnomADv4_1_AC_joint_XX=16367;gnomADv4_1_AC_joint_XY=16195;gnomADv4_1_AF_grpmax_joint=0.369439;gnomADv4_1_AF_joint=0.213499;gnomADv4_1_AF_joint_XX=0.210016;gnomADv4_1_AF_joint_XY=0.217138;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=152516;gnomADv4_1_AN_joint_XX=77932;gnomADv4_1_AN_joint_XY=74584;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3629;gnomADv4_1_nhomalt_joint_XX=1758;gnomADv4_1_nhomalt_joint_XY=1871;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27853935 chr22_27853935_A_AT A AT 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.691;CADDIndel_Rawscore=-0.112338;CSQ=T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||10/10|ENST00000320996.14:c.769-273dup|||||||rs35748712||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl|||||||chr22:g.27853948dup|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||11/11|ENST00000335272.10:c.*39-273dup|||||||rs35748712||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl|||||||chr22:g.27853948dup|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||||||||||rs35748712|970|-1||HGNC|HGNC:9002|5||||||||Ensembl|||||||chr22:g.27853948dup|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000493007|retained_intron||||||||||rs35748712|4495|-1||HGNC|HGNC:9002|3||||||||Ensembl|||||||chr22:g.27853948dup|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||11/11|ENST00000634017.1:c.*39-273dup|||||||rs35748712||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl|||||||chr22:g.27853948dup|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||10/10|NM_001284277.2:c.769-273dup|||||||rs35748712||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq|||||||chr22:g.27853948dup|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||11/11|NM_001284278.2:c.*39-273dup|||||||rs35748712||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq|||||||chr22:g.27853948dup|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||11/11|NM_012399.5:c.*39-273dup|||||||rs35748712||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq|||||||chr22:g.27853948dup|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||10/10|XM_011530052.3:c.775-273dup|||||||rs35748712||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq|||||||chr22:g.27853948dup|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||10/10|XM_047441269.1:c.769-273dup|||||||rs35748712||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq|||||||chr22:g.27853948dup|||||||||||||;SpliceAI=AT|PITPNB|0.00|0.00|0.00|0.00|48|-36|21|41;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000477861,ENST00000493007,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=75006;gnomADv4_1_AC_joint_XX=38053;gnomADv4_1_AC_joint_XY=36953;gnomADv4_1_AF_grpmax_joint=0.633737;gnomADv4_1_AF_joint=0.503315;gnomADv4_1_AF_joint_XX=0.497867;gnomADv4_1_AF_joint_XY=0.509051;gnomADv4_1_AN_grpmax_joint=5122;gnomADv4_1_AN_joint=149024;gnomADv4_1_AN_joint_XX=76432;gnomADv4_1_AN_joint_XY=72592;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19110;gnomADv4_1_nhomalt_joint_XX=9553;gnomADv4_1_nhomalt_joint_XY=9557;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27854184 chr22_27854184_C_T C T 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.035;CADD_Rawscore=-0.897872;CSQ=T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||10/10|ENST00000320996.14:c.769-521G>A|||||||rs1997739||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||C|C||||chr22:g.27854184C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||11/11|ENST00000335272.10:c.*39-521G>A|||||||rs1997739||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||C|C||||chr22:g.27854184C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||||||||||rs1997739|722|-1||HGNC|HGNC:9002|5||||||||Ensembl||C|C||||chr22:g.27854184C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000493007|retained_intron||||||||||rs1997739|4247|-1||HGNC|HGNC:9002|3||||||||Ensembl||C|C||||chr22:g.27854184C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||11/11|ENST00000634017.1:c.*39-521G>A|||||||rs1997739||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||C|C||||chr22:g.27854184C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||10/10|NM_001284277.2:c.769-521G>A|||||||rs1997739||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||C|C||||chr22:g.27854184C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||11/11|NM_001284278.2:c.*39-521G>A|||||||rs1997739||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||C|C||||chr22:g.27854184C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||11/11|NM_012399.5:c.*39-521G>A|||||||rs1997739||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||C|C||||chr22:g.27854184C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||10/10|XM_011530052.3:c.775-521G>A|||||||rs1997739||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||C|C||||chr22:g.27854184C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||10/10|XM_047441269.1:c.769-521G>A|||||||rs1997739||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||C|C||||chr22:g.27854184C>T|||||||||||||;SpliceAI=T|PITPNB|0.00|0.00|0.00|0.00|24|1|24|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000477861,ENST00000493007,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=130190;gnomADv4_1_AC_joint_XX=66196;gnomADv4_1_AC_joint_XY=63994;gnomADv4_1_AF_grpmax_joint=0.999227;gnomADv4_1_AF_joint=0.856355;gnomADv4_1_AF_joint_XX=0.851724;gnomADv4_1_AF_joint_XY=0.861199;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56355;gnomADv4_1_nhomalt_joint_XX=28534;gnomADv4_1_nhomalt_joint_XY=27821;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27855020 chr22_27855020_G_T G T 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=15.46;CADD_Rawscore=1.73295;CSQ=T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||10/10|ENST00000320996.14:c.769-1357C>A|||||||rs111616372||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||G|G||||chr22:g.27855020G>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||10/11|ENST00000335272.10:c.769-81C>A|||||||rs111616372||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||G|G||||chr22:g.27855020G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||7/7|ENST00000477861.1:n.753-81C>A|||||||rs111616372||-1||HGNC|HGNC:9002|5||||||||Ensembl||G|G||||chr22:g.27855020G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000493007|retained_intron||||||||||rs111616372|3411|-1||HGNC|HGNC:9002|3||||||||Ensembl||G|G||||chr22:g.27855020G>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||10/11|ENST00000634017.1:c.775-81C>A|||||||rs111616372||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||G|G||||chr22:g.27855020G>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||10/10|NM_001284277.2:c.769-1357C>A|||||||rs111616372||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||G|G||||chr22:g.27855020G>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||10/11|NM_001284278.2:c.775-81C>A|||||||rs111616372||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||G|G||||chr22:g.27855020G>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||10/11|NM_012399.5:c.769-81C>A|||||||rs111616372||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||G|G||||chr22:g.27855020G>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||10/10|XM_011530052.3:c.775-1357C>A|||||||rs111616372||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||G|G||||chr22:g.27855020G>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||10/10|XM_047441269.1:c.769-1357C>A|||||||rs111616372||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||G|G||||chr22:g.27855020G>T|||||||||||||;SpliceAI=T|PITPNB|0.01|0.00|0.00|0.00|-41|-4|-41|37;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000477861,ENST00000493007,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4682;gnomADv4_1_AC_joint_XX=2218;gnomADv4_1_AC_joint_XY=2464;gnomADv4_1_AF_grpmax_joint=0.0174491;gnomADv4_1_AF_joint=0.00488575;gnomADv4_1_AF_joint_XX=0.00482088;gnomADv4_1_AF_joint_XY=0.00494565;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=958298;gnomADv4_1_AN_joint_XX=460082;gnomADv4_1_AN_joint_XY=498216;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25;gnomADv4_1_nhomalt_joint_XX=8;gnomADv4_1_nhomalt_joint_XY=17;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27856059 chr22_27856059_C_T C T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.008;CADD_Rawscore=-1.34438;CSQ=T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||10/10|ENST00000320996.14:c.768+2328G>A|||||||rs1297596||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||C|C||||chr22:g.27856059C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||10/11|ENST00000335272.10:c.769-1120G>A|||||||rs1297596||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||C|C||||chr22:g.27856059C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||||||||||rs1297596|4137|-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||C|C||||chr22:g.27856059C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||7/7|ENST00000477861.1:n.753-1120G>A|||||||rs1297596||-1||HGNC|HGNC:9002|5||||||||Ensembl||C|C||||chr22:g.27856059C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000493007|retained_intron||||||||||rs1297596|2372|-1||HGNC|HGNC:9002|3||||||||Ensembl||C|C||||chr22:g.27856059C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||10/11|ENST00000634017.1:c.775-1120G>A|||||||rs1297596||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||C|C||||chr22:g.27856059C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||10/10|NM_001284277.2:c.768+2328G>A|||||||rs1297596||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||C|C||||chr22:g.27856059C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||10/11|NM_001284278.2:c.775-1120G>A|||||||rs1297596||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||C|C||||chr22:g.27856059C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||10/11|NM_012399.5:c.769-1120G>A|||||||rs1297596||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||C|C||||chr22:g.27856059C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||10/10|XM_011530052.3:c.774+2328G>A|||||||rs1297596||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||C|C||||chr22:g.27856059C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||10/10|XM_047441269.1:c.768+2328G>A|||||||rs1297596||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||C|C||||chr22:g.27856059C>T|||||||||||||;SpliceAI=T|PITPNB|0.01|0.00|0.00|0.00|18|10|-13|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000477861,ENST00000493007,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152018;gnomADv4_1_AC_joint_XX=77698;gnomADv4_1_AC_joint_XY=74320;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.99824;gnomADv4_1_AF_joint_XX=0.998176;gnomADv4_1_AF_joint_XY=0.998307;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152286;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75876;gnomADv4_1_nhomalt_joint_XX=38778;gnomADv4_1_nhomalt_joint_XY=37098;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27856256 chr22_27856256_A_G A G 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=3.423;CADD_Rawscore=0.313767;CSQ=G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||10/10|ENST00000320996.14:c.768+2131T>C|||||||rs1024739844||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||A|A||||chr22:g.27856256A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||10/11|ENST00000335272.10:c.769-1317T>C|||||||rs1024739844||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||A|A||||chr22:g.27856256A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||||||||||rs1024739844|3940|-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||A|A||||chr22:g.27856256A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||7/7|ENST00000477861.1:n.753-1317T>C|||||||rs1024739844||-1||HGNC|HGNC:9002|5||||||||Ensembl||A|A||||chr22:g.27856256A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000493007|retained_intron||||||||||rs1024739844|2175|-1||HGNC|HGNC:9002|3||||||||Ensembl||A|A||||chr22:g.27856256A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||10/11|ENST00000634017.1:c.775-1317T>C|||||||rs1024739844||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||A|A||||chr22:g.27856256A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||10/10|NM_001284277.2:c.768+2131T>C|||||||rs1024739844||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||A|A||||chr22:g.27856256A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||10/11|NM_001284278.2:c.775-1317T>C|||||||rs1024739844||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||A|A||||chr22:g.27856256A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||10/11|NM_012399.5:c.769-1317T>C|||||||rs1024739844||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||A|A||||chr22:g.27856256A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||10/10|XM_011530052.3:c.774+2131T>C|||||||rs1024739844||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||A|A||||chr22:g.27856256A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||10/10|XM_047441269.1:c.768+2131T>C|||||||rs1024739844||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||A|A||||chr22:g.27856256A>G|||||||||||||;SpliceAI=G|PITPNB|0.00|0.00|0.00|0.00|-1|-7|48|35;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000477861,ENST00000493007,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=167;gnomADv4_1_AC_joint_XX=71;gnomADv4_1_AC_joint_XY=96;gnomADv4_1_AF_grpmax_joint=0.00248269;gnomADv4_1_AF_joint=0.00109622;gnomADv4_1_AF_joint_XX=0.000912057;gnomADv4_1_AF_joint_XY=0.00128866;gnomADv4_1_AN_grpmax_joint=15306;gnomADv4_1_AN_joint=152342;gnomADv4_1_AN_joint_XX=77846;gnomADv4_1_AN_joint_XY=74496;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27859067 chr22_27859067_A_C A C 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.998;CADD_Rawscore=0.16364;CSQ=C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||9/10|ENST00000320996.14:c.646-558T>G|||||||rs5762388||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||A|A||||chr22:g.27859067A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||9/11|ENST00000335272.10:c.646-558T>G|||||||rs5762388||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||A|A||||chr22:g.27859067A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||||||||||rs5762388|1129|-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||A|A||||chr22:g.27859067A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||6/7|ENST00000477861.1:n.630-558T>G|||||||rs5762388||-1||HGNC|HGNC:9002|5||||||||Ensembl||A|A||||chr22:g.27859067A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000493007|retained_intron||1/1|ENST00000493007.1:n.486-558T>G|||||||rs5762388||-1||HGNC|HGNC:9002|3||||||||Ensembl||A|A||||chr22:g.27859067A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||9/11|ENST00000634017.1:c.652-558T>G|||||||rs5762388||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||A|A||||chr22:g.27859067A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||9/10|NM_001284277.2:c.646-558T>G|||||||rs5762388||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||A|A||||chr22:g.27859067A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||9/11|NM_001284278.2:c.652-558T>G|||||||rs5762388||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||A|A||||chr22:g.27859067A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||9/11|NM_012399.5:c.646-558T>G|||||||rs5762388||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||A|A||||chr22:g.27859067A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||9/10|XM_011530052.3:c.652-558T>G|||||||rs5762388||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||A|A||||chr22:g.27859067A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||9/10|XM_047441269.1:c.646-558T>G|||||||rs5762388||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||A|A||||chr22:g.27859067A>C|||||||||||||;SpliceAI=C|PITPNB|0.00|0.00|0.00|0.00|23|4|-18|9;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000477861,ENST00000493007,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80361;gnomADv4_1_AC_joint_XX=40516;gnomADv4_1_AC_joint_XY=39845;gnomADv4_1_AF_grpmax_joint=0.664913;gnomADv4_1_AF_joint=0.528489;gnomADv4_1_AF_joint_XX=0.5212;gnomADv4_1_AF_joint_XY=0.536113;gnomADv4_1_AN_grpmax_joint=41440;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22200;gnomADv4_1_nhomalt_joint_XX=11008;gnomADv4_1_nhomalt_joint_XY=11192;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27860031 chr22_27860031_A_G A G 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.451;CADD_Rawscore=0.079465;CSQ=G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||9/10|ENST00000320996.14:c.645+100T>C|||||||rs12160891||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||A|A||||chr22:g.27860031A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||9/11|ENST00000335272.10:c.645+100T>C|||||||rs12160891||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||A|A||||chr22:g.27860031A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||||||||||rs12160891|165|-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||A|A||||chr22:g.27860031A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||6/7|ENST00000477861.1:n.629+100T>C|||||||rs12160891||-1||HGNC|HGNC:9002|5||||||||Ensembl||A|A||||chr22:g.27860031A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000493007|retained_intron||1/1|ENST00000493007.1:n.485+100T>C|||||||rs12160891||-1||HGNC|HGNC:9002|3||||||||Ensembl||A|A||||chr22:g.27860031A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||9/11|ENST00000634017.1:c.651+100T>C|||||||rs12160891||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||A|A||||chr22:g.27860031A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||9/10|NM_001284277.2:c.645+100T>C|||||||rs12160891||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||A|A||||chr22:g.27860031A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||9/11|NM_001284278.2:c.651+100T>C|||||||rs12160891||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||A|A||||chr22:g.27860031A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||9/11|NM_012399.5:c.645+100T>C|||||||rs12160891||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||A|A||||chr22:g.27860031A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||9/10|XM_011530052.3:c.651+100T>C|||||||rs12160891||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||A|A||||chr22:g.27860031A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||9/10|XM_047441269.1:c.645+100T>C|||||||rs12160891||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||A|A||||chr22:g.27860031A>G|||||||||||||;SpliceAI=G|PITPNB|0.00|0.00|0.00|0.00|-1|-38|-1|36;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000477861,ENST00000493007,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87467;gnomADv4_1_AC_joint_XX=39787;gnomADv4_1_AC_joint_XY=47680;gnomADv4_1_AF_grpmax_joint=0.24861;gnomADv4_1_AF_joint=0.128067;gnomADv4_1_AF_joint_XX=0.121895;gnomADv4_1_AF_joint_XY=0.133718;gnomADv4_1_AN_grpmax_joint=3958;gnomADv4_1_AN_joint=682976;gnomADv4_1_AN_joint_XX=326404;gnomADv4_1_AN_joint_XY=356572;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6514;gnomADv4_1_nhomalt_joint_XX=2746;gnomADv4_1_nhomalt_joint_XY=3768;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27861380 chr22_27861380_C_A C A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=4.273;CADD_Rawscore=0.389502;CSQ=A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||8/10|ENST00000320996.14:c.535-1139G>T|||||||rs73166732||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||C|C||||chr22:g.27861380C>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||8/11|ENST00000335272.10:c.535-1139G>T|||||||rs73166732||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||C|C||||chr22:g.27861380C>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||8/8|ENST00000415296.5:c.316-1139G>T|||||||rs73166732||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||C|C||||chr22:g.27861380C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||5/7|ENST00000477861.1:n.519-1139G>T|||||||rs73166732||-1||HGNC|HGNC:9002|5||||||||Ensembl||C|C||||chr22:g.27861380C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000493007|retained_intron||||||||||rs73166732|765|-1||HGNC|HGNC:9002|3||||||||Ensembl||C|C||||chr22:g.27861380C>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||8/11|ENST00000634017.1:c.541-1139G>T|||||||rs73166732||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||C|C||||chr22:g.27861380C>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||8/10|NM_001284277.2:c.535-1139G>T|||||||rs73166732||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||C|C||||chr22:g.27861380C>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||8/11|NM_001284278.2:c.541-1139G>T|||||||rs73166732||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||C|C||||chr22:g.27861380C>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||8/11|NM_012399.5:c.535-1139G>T|||||||rs73166732||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||C|C||||chr22:g.27861380C>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||8/10|XM_011530052.3:c.541-1139G>T|||||||rs73166732||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||C|C||||chr22:g.27861380C>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||8/10|XM_047441269.1:c.535-1139G>T|||||||rs73166732||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||C|C||||chr22:g.27861380C>A|||||||||||||;SpliceAI=A|PITPNB|0.00|0.00|0.00|0.00|-18|-1|29|-21;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000477861,ENST00000493007,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15565;gnomADv4_1_AC_joint_XX=7706;gnomADv4_1_AC_joint_XY=7859;gnomADv4_1_AF_grpmax_joint=0.252075;gnomADv4_1_AF_joint=0.102271;gnomADv4_1_AF_joint_XX=0.0990641;gnomADv4_1_AF_joint_XY=0.105623;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=932;gnomADv4_1_nhomalt_joint_XX=418;gnomADv4_1_nhomalt_joint_XY=514;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27862712 chr22_27862712_G_T G T 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.621;CADD_Rawscore=-0.138885;CSQ=T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||8/10|ENST00000320996.14:c.535-2471C>A|||||||rs2267121||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||G|G||||chr22:g.27862712G>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||8/11|ENST00000335272.10:c.535-2471C>A|||||||rs2267121||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||G|G||||chr22:g.27862712G>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||8/8|ENST00000415296.5:c.316-2471C>A|||||||rs2267121||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||G|G||||chr22:g.27862712G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||5/7|ENST00000477861.1:n.519-2471C>A|||||||rs2267121||-1||HGNC|HGNC:9002|5||||||||Ensembl||G|G||||chr22:g.27862712G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000493007|retained_intron||||||||||rs2267121|2097|-1||HGNC|HGNC:9002|3||||||||Ensembl||G|G||||chr22:g.27862712G>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||8/11|ENST00000634017.1:c.541-2471C>A|||||||rs2267121||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||G|G||||chr22:g.27862712G>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||8/10|NM_001284277.2:c.535-2471C>A|||||||rs2267121||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||G|G||||chr22:g.27862712G>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||8/11|NM_001284278.2:c.541-2471C>A|||||||rs2267121||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||G|G||||chr22:g.27862712G>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||8/11|NM_012399.5:c.535-2471C>A|||||||rs2267121||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||G|G||||chr22:g.27862712G>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||8/10|XM_011530052.3:c.541-2471C>A|||||||rs2267121||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||G|G||||chr22:g.27862712G>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||8/10|XM_047441269.1:c.535-2471C>A|||||||rs2267121||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||G|G||||chr22:g.27862712G>T|||||||||||||;SpliceAI=T|PITPNB|0.00|0.00|0.00|0.00|37|18|18|-31;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000477861,ENST00000493007,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82840;gnomADv4_1_AC_joint_XX=41890;gnomADv4_1_AC_joint_XY=40950;gnomADv4_1_AF_grpmax_joint=0.725132;gnomADv4_1_AF_joint=0.544957;gnomADv4_1_AF_joint_XX=0.538986;gnomADv4_1_AF_joint_XY=0.551203;gnomADv4_1_AN_grpmax_joint=41438;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23945;gnomADv4_1_nhomalt_joint_XX=11976;gnomADv4_1_nhomalt_joint_XY=11969;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27865642 chr22_27865642_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.202;CADD_Rawscore=0.189483;CSQ=A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||8/10|ENST00000320996.14:c.535-5401C>T|||||||rs714743||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||G|G||||chr22:g.27865642G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||8/11|ENST00000335272.10:c.535-5401C>T|||||||rs714743||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||G|G||||chr22:g.27865642G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||8/8|ENST00000415296.5:c.316-5401C>T|||||||rs714743||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||G|G||||chr22:g.27865642G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||5/7|ENST00000477861.1:n.519-5401C>T|||||||rs714743||-1||HGNC|HGNC:9002|5||||||||Ensembl||G|G||||chr22:g.27865642G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||8/11|ENST00000634017.1:c.541-5401C>T|||||||rs714743||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||G|G||||chr22:g.27865642G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||8/10|NM_001284277.2:c.535-5401C>T|||||||rs714743||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||G|G||||chr22:g.27865642G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||8/11|NM_001284278.2:c.541-5401C>T|||||||rs714743||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||G|G||||chr22:g.27865642G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||8/11|NM_012399.5:c.535-5401C>T|||||||rs714743||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||G|G||||chr22:g.27865642G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||8/10|XM_011530052.3:c.541-5401C>T|||||||rs714743||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||G|G||||chr22:g.27865642G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||8/10|XM_047441269.1:c.535-5401C>T|||||||rs714743||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||G|G||||chr22:g.27865642G>A|||||||||||||;SpliceAI=A|PITPNB|0.00|0.00|0.00|0.00|-15|36|6|-38;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15617;gnomADv4_1_AC_joint_XX=7737;gnomADv4_1_AC_joint_XY=7880;gnomADv4_1_AF_grpmax_joint=0.250623;gnomADv4_1_AF_joint=0.102679;gnomADv4_1_AF_joint_XX=0.0994985;gnomADv4_1_AF_joint_XY=0.106005;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=938;gnomADv4_1_nhomalt_joint_XX=425;gnomADv4_1_nhomalt_joint_XY=513;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27868093 chr22_27868093_C_T C T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=3.762;CADD_Rawscore=0.344069;CSQ=T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||8/10|ENST00000320996.14:c.534+5645G>A|||||||rs5752651||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||C|C||||chr22:g.27868093C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||8/11|ENST00000335272.10:c.534+5645G>A|||||||rs5752651||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||C|C||||chr22:g.27868093C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||8/8|ENST00000415296.5:c.315+5645G>A|||||||rs5752651||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||C|C||||chr22:g.27868093C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||5/7|ENST00000477861.1:n.518+5645G>A|||||||rs5752651||-1||HGNC|HGNC:9002|5||||||||Ensembl||C|C||||chr22:g.27868093C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||8/11|ENST00000634017.1:c.540+5645G>A|||||||rs5752651||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||C|C||||chr22:g.27868093C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||8/10|NM_001284277.2:c.534+5645G>A|||||||rs5752651||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||C|C||||chr22:g.27868093C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||8/11|NM_001284278.2:c.540+5645G>A|||||||rs5752651||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||C|C||||chr22:g.27868093C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||8/11|NM_012399.5:c.534+5645G>A|||||||rs5752651||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||C|C||||chr22:g.27868093C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||8/10|XM_011530052.3:c.540+5645G>A|||||||rs5752651||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||C|C||||chr22:g.27868093C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||8/10|XM_047441269.1:c.534+5645G>A|||||||rs5752651||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||C|C||||chr22:g.27868093C>T|||||||||||||;SpliceAI=T|PITPNB|0.00|0.00|0.00|0.00|-23|-34|8|33;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16346;gnomADv4_1_AC_joint_XX=8130;gnomADv4_1_AC_joint_XY=8216;gnomADv4_1_AF_grpmax_joint=0.248548;gnomADv4_1_AF_joint=0.107457;gnomADv4_1_AF_joint_XX=0.10452;gnomADv4_1_AF_joint_XY=0.110531;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=979;gnomADv4_1_nhomalt_joint_XX=456;gnomADv4_1_nhomalt_joint_XY=523;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27870184 chr22_27870184_T_C T C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.768;CADD_Rawscore=0.131415;CSQ=C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||8/10|ENST00000320996.14:c.534+3554A>G|||||||rs73166735||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||T|T||||chr22:g.27870184T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||8/11|ENST00000335272.10:c.534+3554A>G|||||||rs73166735||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||T|T||||chr22:g.27870184T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||8/8|ENST00000415296.5:c.315+3554A>G|||||||rs73166735||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||T|T||||chr22:g.27870184T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||||||||||rs73166735|3591|-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||T|T||||chr22:g.27870184T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||5/7|ENST00000477861.1:n.518+3554A>G|||||||rs73166735||-1||HGNC|HGNC:9002|5||||||||Ensembl||T|T||||chr22:g.27870184T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||8/11|ENST00000634017.1:c.540+3554A>G|||||||rs73166735||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||T|T||||chr22:g.27870184T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||8/10|NM_001284277.2:c.534+3554A>G|||||||rs73166735||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||T|T||||chr22:g.27870184T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||8/11|NM_001284278.2:c.540+3554A>G|||||||rs73166735||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||T|T||||chr22:g.27870184T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||8/11|NM_012399.5:c.534+3554A>G|||||||rs73166735||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||T|T||||chr22:g.27870184T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||8/10|XM_011530052.3:c.540+3554A>G|||||||rs73166735||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||T|T||||chr22:g.27870184T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||||||||||rs73166735|3611|-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||T|T||||chr22:g.27870184T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||8/10|XM_047441269.1:c.534+3554A>G|||||||rs73166735||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||T|T||||chr22:g.27870184T>C|||||||||||||;SpliceAI=C|PITPNB|0.00|0.00|0.00|0.00|25|-9|25|-1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5232;gnomADv4_1_AC_joint_XX=2855;gnomADv4_1_AC_joint_XY=2377;gnomADv4_1_AF_grpmax_joint=0.0918367;gnomADv4_1_AF_joint=0.0343587;gnomADv4_1_AF_joint_XX=0.0366872;gnomADv4_1_AF_joint_XY=0.0319249;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152276;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=131;gnomADv4_1_nhomalt_joint_XX=75;gnomADv4_1_nhomalt_joint_XY=56;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27872304 chr22_27872304_G_A G A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=5.59;CADD_Rawscore=0.512392;CSQ=A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||8/10|ENST00000320996.14:c.534+1434C>T|||||||rs5997318||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||G|G||||chr22:g.27872304G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||8/11|ENST00000335272.10:c.534+1434C>T|||||||rs5997318||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||G|G||||chr22:g.27872304G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||8/8|ENST00000415296.5:c.315+1434C>T|||||||rs5997318||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||G|G||||chr22:g.27872304G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||||||||||rs5997318|1471|-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||G|G||||chr22:g.27872304G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||5/7|ENST00000477861.1:n.518+1434C>T|||||||rs5997318||-1||HGNC|HGNC:9002|5||||||||Ensembl||G|G||||chr22:g.27872304G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||8/11|ENST00000634017.1:c.540+1434C>T|||||||rs5997318||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||G|G||||chr22:g.27872304G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||8/10|NM_001284277.2:c.534+1434C>T|||||||rs5997318||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||G|G||||chr22:g.27872304G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||8/11|NM_001284278.2:c.540+1434C>T|||||||rs5997318||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||G|G||||chr22:g.27872304G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||8/11|NM_012399.5:c.534+1434C>T|||||||rs5997318||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||G|G||||chr22:g.27872304G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||8/10|XM_011530052.3:c.540+1434C>T|||||||rs5997318||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||G|G||||chr22:g.27872304G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||||||||||rs5997318|1491|-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||G|G||||chr22:g.27872304G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||8/10|XM_047441269.1:c.534+1434C>T|||||||rs5997318||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||G|G||||chr22:g.27872304G>A|||||||||||||;SpliceAI=A|PITPNB|0.00|0.00|0.00|0.00|-48|1|39|-28;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15963;gnomADv4_1_AC_joint_XX=7926;gnomADv4_1_AC_joint_XY=8037;gnomADv4_1_AF_grpmax_joint=0.249582;gnomADv4_1_AF_joint=0.10519;gnomADv4_1_AF_joint_XX=0.102131;gnomADv4_1_AF_joint_XY=0.108391;gnomADv4_1_AN_grpmax_joint=4784;gnomADv4_1_AN_joint=151754;gnomADv4_1_AN_joint_XX=77606;gnomADv4_1_AN_joint_XY=74148;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=949;gnomADv4_1_nhomalt_joint_XX=439;gnomADv4_1_nhomalt_joint_XY=510;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27872410 chr22_27872410_TAA_T TAA T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.482;CADDIndel_Rawscore=-0.202465;CSQ=-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||8/10|ENST00000320996.14:c.534+1326_534+1327del|||||||rs34588572||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||AA|AA||||chr22:g.27872411_27872412del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||8/11|ENST00000335272.10:c.534+1326_534+1327del|||||||rs34588572||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||AA|AA||||chr22:g.27872411_27872412del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||8/8|ENST00000415296.5:c.315+1326_315+1327del|||||||rs34588572||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||AA|AA||||chr22:g.27872411_27872412del|||||||||||||,-|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||||||||||rs34588572|1363|-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||AA|AA||||chr22:g.27872411_27872412del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||5/7|ENST00000477861.1:n.518+1326_518+1327del|||||||rs34588572||-1||HGNC|HGNC:9002|5||||||||Ensembl||AA|AA||||chr22:g.27872411_27872412del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||8/11|ENST00000634017.1:c.540+1326_540+1327del|||||||rs34588572||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||AA|AA||||chr22:g.27872411_27872412del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||8/10|NM_001284277.2:c.534+1326_534+1327del|||||||rs34588572||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||AA|AA||||chr22:g.27872411_27872412del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||8/11|NM_001284278.2:c.540+1326_540+1327del|||||||rs34588572||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||AA|AA||||chr22:g.27872411_27872412del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||8/11|NM_012399.5:c.534+1326_534+1327del|||||||rs34588572||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||AA|AA||||chr22:g.27872411_27872412del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||8/10|XM_011530052.3:c.540+1326_540+1327del|||||||rs34588572||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||AA|AA||||chr22:g.27872411_27872412del|||||||||||||,-|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||||||||||rs34588572|1383|-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||AA|AA||||chr22:g.27872411_27872412del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||8/10|XM_047441269.1:c.534+1326_534+1327del|||||||rs34588572||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||AA|AA||||chr22:g.27872411_27872412del|||||||||||||;SpliceAI=T|PITPNB|0.00|0.00|0.00|0.00|28|22|6|47;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78945;gnomADv4_1_AC_joint_XX=39866;gnomADv4_1_AC_joint_XY=39079;gnomADv4_1_AF_grpmax_joint=0.652237;gnomADv4_1_AF_joint=0.521475;gnomADv4_1_AF_joint_XX=0.514706;gnomADv4_1_AF_joint_XY=0.528566;gnomADv4_1_AN_grpmax_joint=41212;gnomADv4_1_AN_joint=151388;gnomADv4_1_AN_joint_XX=77454;gnomADv4_1_AN_joint_XY=73934;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=21397;gnomADv4_1_nhomalt_joint_XX=10639;gnomADv4_1_nhomalt_joint_XY=10758;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27872419 chr22_27872419_T_A T A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.103;CADD_Rawscore=-0.602424;CSQ=A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||8/10|ENST00000320996.14:c.534+1319A>T|||||||rs5997319||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||T|T||||chr22:g.27872419T>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||8/11|ENST00000335272.10:c.534+1319A>T|||||||rs5997319||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||T|T||||chr22:g.27872419T>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||8/8|ENST00000415296.5:c.315+1319A>T|||||||rs5997319||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||T|T||||chr22:g.27872419T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||||||||||rs5997319|1356|-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||T|T||||chr22:g.27872419T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||5/7|ENST00000477861.1:n.518+1319A>T|||||||rs5997319||-1||HGNC|HGNC:9002|5||||||||Ensembl||T|T||||chr22:g.27872419T>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||8/11|ENST00000634017.1:c.540+1319A>T|||||||rs5997319||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||T|T||||chr22:g.27872419T>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||8/10|NM_001284277.2:c.534+1319A>T|||||||rs5997319||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||T|T||||chr22:g.27872419T>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||8/11|NM_001284278.2:c.540+1319A>T|||||||rs5997319||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||T|T||||chr22:g.27872419T>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||8/11|NM_012399.5:c.534+1319A>T|||||||rs5997319||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||T|T||||chr22:g.27872419T>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||8/10|XM_011530052.3:c.540+1319A>T|||||||rs5997319||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||T|T||||chr22:g.27872419T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||||||||||rs5997319|1376|-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||T|T||||chr22:g.27872419T>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||8/10|XM_047441269.1:c.534+1319A>T|||||||rs5997319||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||T|T||||chr22:g.27872419T>A|||||||||||||;SpliceAI=A|PITPNB|0.00|0.00|0.00|0.00|-19|9|2|-3;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78973;gnomADv4_1_AC_joint_XX=39877;gnomADv4_1_AC_joint_XY=39096;gnomADv4_1_AF_grpmax_joint=0.652564;gnomADv4_1_AF_joint=0.521618;gnomADv4_1_AF_joint_XX=0.514874;gnomADv4_1_AF_joint_XY=0.528682;gnomADv4_1_AN_grpmax_joint=41222;gnomADv4_1_AN_joint=151400;gnomADv4_1_AN_joint_XX=77450;gnomADv4_1_AN_joint_XY=73950;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=21406;gnomADv4_1_nhomalt_joint_XX=10640;gnomADv4_1_nhomalt_joint_XY=10766;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27872663 chr22_27872663_CT_C CT C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=2.427;CADDIndel_Rawscore=0.215618;CSQ=-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||8/10|ENST00000320996.14:c.534+1074del|||||||rs35608751||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||T|T||||chr22:g.27872665del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||8/11|ENST00000335272.10:c.534+1074del|||||||rs35608751||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||T|T||||chr22:g.27872665del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||8/8|ENST00000415296.5:c.315+1074del|||||||rs35608751||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||T|T||||chr22:g.27872665del|||||||||||||,-|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||||||||||rs35608751|1111|-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||T|T||||chr22:g.27872665del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||5/7|ENST00000477861.1:n.518+1074del|||||||rs35608751||-1||HGNC|HGNC:9002|5||||||||Ensembl||T|T||||chr22:g.27872665del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||8/11|ENST00000634017.1:c.540+1074del|||||||rs35608751||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||T|T||||chr22:g.27872665del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||8/10|NM_001284277.2:c.534+1074del|||||||rs35608751||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||T|T||||chr22:g.27872665del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||8/11|NM_001284278.2:c.540+1074del|||||||rs35608751||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||T|T||||chr22:g.27872665del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||8/11|NM_012399.5:c.534+1074del|||||||rs35608751||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||T|T||||chr22:g.27872665del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||8/10|XM_011530052.3:c.540+1074del|||||||rs35608751||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||T|T||||chr22:g.27872665del|||||||||||||,-|downstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||||||||||rs35608751|1131|-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||T|T||||chr22:g.27872665del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||8/10|XM_047441269.1:c.534+1074del|||||||rs35608751||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||T|T||||chr22:g.27872665del|||||||||||||;SpliceAI=C|PITPNB|0.00|0.00|0.00|0.00|14|49|22|44;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32447;gnomADv4_1_AC_joint_XX=16297;gnomADv4_1_AC_joint_XY=16150;gnomADv4_1_AF_grpmax_joint=0.368399;gnomADv4_1_AF_joint=0.213349;gnomADv4_1_AF_joint_XX=0.209586;gnomADv4_1_AF_joint_XY=0.217286;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3609;gnomADv4_1_nhomalt_joint_XX=1752;gnomADv4_1_nhomalt_joint_XY=1857;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27874376 chr22_27874376_A_G A G 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.723;CADD_Rawscore=0.124629;CSQ=G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||7/10|ENST00000320996.14:c.457-561T>C|||||||rs915756579||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||A|A||||chr22:g.27874376A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||7/11|ENST00000335272.10:c.457-561T>C|||||||rs915756579||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||A|A||||chr22:g.27874376A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||7/8|ENST00000415296.5:c.238-561T>C|||||||rs915756579||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||A|A||||chr22:g.27874376A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||7/7|ENST00000436663.1:c.463-561T>C|||||||rs915756579||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||A|A||||chr22:g.27874376A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||4/7|ENST00000477861.1:n.441-561T>C|||||||rs915756579||-1||HGNC|HGNC:9002|5||||||||Ensembl||A|A||||chr22:g.27874376A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||7/11|ENST00000634017.1:c.463-561T>C|||||||rs915756579||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||A|A||||chr22:g.27874376A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||7/10|NM_001284277.2:c.457-561T>C|||||||rs915756579||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||A|A||||chr22:g.27874376A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||7/11|NM_001284278.2:c.463-561T>C|||||||rs915756579||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||A|A||||chr22:g.27874376A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||7/11|NM_012399.5:c.457-561T>C|||||||rs915756579||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||A|A||||chr22:g.27874376A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||7/10|XM_011530052.3:c.463-561T>C|||||||rs915756579||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||A|A||||chr22:g.27874376A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||8/8|XM_017028707.2:c.*44-561T>C|||||||rs915756579||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||A|A||||chr22:g.27874376A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||7/10|XM_047441269.1:c.457-561T>C|||||||rs915756579||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||A|A||||chr22:g.27874376A>G|||||||||||||;SpliceAI=G|PITPNB|0.02|0.00|0.00|0.00|46|-12|-26|35;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31;gnomADv4_1_AC_joint_XX=16;gnomADv4_1_AC_joint_XY=15;gnomADv4_1_AF_grpmax_joint=7.35035e-05;gnomADv4_1_AF_joint=0.00020387;gnomADv4_1_AF_joint_XX=0.000205671;gnomADv4_1_AF_joint_XY=0.000201982;gnomADv4_1_AN_grpmax_joint=68024;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27874384 chr22_27874384_T_G T G 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.457;CADD_Rawscore=-0.215419;CSQ=G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||7/10|ENST00000320996.14:c.457-569A>C|||||||rs5997320||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||T|T||||chr22:g.27874384T>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||7/11|ENST00000335272.10:c.457-569A>C|||||||rs5997320||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||T|T||||chr22:g.27874384T>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||7/8|ENST00000415296.5:c.238-569A>C|||||||rs5997320||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||T|T||||chr22:g.27874384T>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||7/7|ENST00000436663.1:c.463-569A>C|||||||rs5997320||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||T|T||||chr22:g.27874384T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||4/7|ENST00000477861.1:n.441-569A>C|||||||rs5997320||-1||HGNC|HGNC:9002|5||||||||Ensembl||T|T||||chr22:g.27874384T>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||7/11|ENST00000634017.1:c.463-569A>C|||||||rs5997320||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||T|T||||chr22:g.27874384T>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||7/10|NM_001284277.2:c.457-569A>C|||||||rs5997320||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||T|T||||chr22:g.27874384T>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||7/11|NM_001284278.2:c.463-569A>C|||||||rs5997320||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||T|T||||chr22:g.27874384T>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||7/11|NM_012399.5:c.457-569A>C|||||||rs5997320||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||T|T||||chr22:g.27874384T>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||7/10|XM_011530052.3:c.463-569A>C|||||||rs5997320||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||T|T||||chr22:g.27874384T>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||8/8|XM_017028707.2:c.*44-569A>C|||||||rs5997320||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||T|T||||chr22:g.27874384T>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||7/10|XM_047441269.1:c.457-569A>C|||||||rs5997320||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||T|T||||chr22:g.27874384T>G|||||||||||||;SpliceAI=G|PITPNB|0.00|0.00|0.00|0.00|27|38|27|-34;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31648;gnomADv4_1_AC_joint_XX=15855;gnomADv4_1_AC_joint_XY=15793;gnomADv4_1_AF_grpmax_joint=0.370961;gnomADv4_1_AF_joint=0.208123;gnomADv4_1_AF_joint_XX=0.203933;gnomADv4_1_AF_joint_XY=0.212506;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3461;gnomADv4_1_nhomalt_joint_XX=1666;gnomADv4_1_nhomalt_joint_XY=1795;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27876340 chr22_27876340_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=3.055;CADD_Rawscore=0.279704;CSQ=A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||7/10|ENST00000320996.14:c.457-2525C>T|||||||rs5762393||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||G|G||||chr22:g.27876340G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||7/11|ENST00000335272.10:c.457-2525C>T|||||||rs5762393||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||G|G||||chr22:g.27876340G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||7/8|ENST00000415296.5:c.238-2525C>T|||||||rs5762393||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||G|G||||chr22:g.27876340G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||7/7|ENST00000436663.1:c.463-2525C>T|||||||rs5762393||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||G|G||||chr22:g.27876340G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||4/7|ENST00000477861.1:n.441-2525C>T|||||||rs5762393||-1||HGNC|HGNC:9002|5||||||||Ensembl||G|G||||chr22:g.27876340G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||7/11|ENST00000634017.1:c.463-2525C>T|||||||rs5762393||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||G|G||||chr22:g.27876340G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||7/10|NM_001284277.2:c.457-2525C>T|||||||rs5762393||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||G|G||||chr22:g.27876340G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||7/11|NM_001284278.2:c.463-2525C>T|||||||rs5762393||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||G|G||||chr22:g.27876340G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||7/11|NM_012399.5:c.457-2525C>T|||||||rs5762393||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||G|G||||chr22:g.27876340G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||7/10|XM_011530052.3:c.463-2525C>T|||||||rs5762393||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||G|G||||chr22:g.27876340G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||8/8|XM_017028707.2:c.*44-2525C>T|||||||rs5762393||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||G|G||||chr22:g.27876340G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||7/10|XM_047441269.1:c.457-2525C>T|||||||rs5762393||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||G|G||||chr22:g.27876340G>A|||||||||||||;SpliceAI=A|PITPNB|0.00|0.00|0.00|0.00|-41|37|-41|-16;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88895;gnomADv4_1_AC_joint_XX=45106;gnomADv4_1_AC_joint_XY=43789;gnomADv4_1_AF_grpmax_joint=0.861134;gnomADv4_1_AF_joint=0.584489;gnomADv4_1_AF_joint_XX=0.580112;gnomADv4_1_AF_joint_XY=0.589069;gnomADv4_1_AN_grpmax_joint=41522;gnomADv4_1_AN_joint=152090;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=28619;gnomADv4_1_nhomalt_joint_XX=14457;gnomADv4_1_nhomalt_joint_XY=14162;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27882708 chr22_27882708_T_C T C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=12.56;CADD_Rawscore=1.25076;CSQ=C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||7/10|ENST00000320996.14:c.457-8893A>G|||||||rs112942478||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||T|T||||chr22:g.27882708T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||7/11|ENST00000335272.10:c.457-8893A>G|||||||rs112942478||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||T|T||||chr22:g.27882708T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||7/8|ENST00000415296.5:c.238-8893A>G|||||||rs112942478||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||T|T||||chr22:g.27882708T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||7/7|ENST00000436663.1:c.463-8893A>G|||||||rs112942478||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||T|T||||chr22:g.27882708T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||4/7|ENST00000477861.1:n.441-8893A>G|||||||rs112942478||-1||HGNC|HGNC:9002|5||||||||Ensembl||T|T||||chr22:g.27882708T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||7/11|ENST00000634017.1:c.463-8893A>G|||||||rs112942478||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||T|T||||chr22:g.27882708T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||7/10|NM_001284277.2:c.457-8893A>G|||||||rs112942478||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||T|T||||chr22:g.27882708T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||7/11|NM_001284278.2:c.463-8893A>G|||||||rs112942478||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||T|T||||chr22:g.27882708T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||7/11|NM_012399.5:c.457-8893A>G|||||||rs112942478||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||T|T||||chr22:g.27882708T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||7/10|XM_011530052.3:c.463-8893A>G|||||||rs112942478||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||T|T||||chr22:g.27882708T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||8/8|XM_017028707.2:c.*44-8893A>G|||||||rs112942478||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||T|T||||chr22:g.27882708T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||7/10|XM_047441269.1:c.457-8893A>G|||||||rs112942478||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||T|T||||chr22:g.27882708T>C|||||||||||||;SpliceAI=C|PITPNB|0.01|0.00|0.00|0.00|36|-16|36|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=593;gnomADv4_1_AC_joint_XX=331;gnomADv4_1_AC_joint_XY=262;gnomADv4_1_AF_grpmax_joint=0.0306122;gnomADv4_1_AF_joint=0.00389148;gnomADv4_1_AF_joint_XX=0.00425078;gnomADv4_1_AF_joint_XY=0.00351602;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152384;gnomADv4_1_AN_joint_XX=77868;gnomADv4_1_AN_joint_XY=74516;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27888073 chr22_27888073_A_T A T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=7.469;CADD_Rawscore=0.709597;CSQ=T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||7/10|ENST00000320996.14:c.456+6482T>A|||||||rs2267123||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||A|A||||chr22:g.27888073A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||7/11|ENST00000335272.10:c.456+6482T>A|||||||rs2267123||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||A|A||||chr22:g.27888073A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||7/8|ENST00000415296.5:c.237+6482T>A|||||||rs2267123||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||A|A||||chr22:g.27888073A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||7/7|ENST00000436663.1:c.462+6482T>A|||||||rs2267123||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||A|A||||chr22:g.27888073A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||4/7|ENST00000477861.1:n.440+6482T>A|||||||rs2267123||-1||HGNC|HGNC:9002|5||||||||Ensembl||A|A||||chr22:g.27888073A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||7/11|ENST00000634017.1:c.462+6482T>A|||||||rs2267123||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||A|A||||chr22:g.27888073A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||7/10|NM_001284277.2:c.456+6482T>A|||||||rs2267123||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||A|A||||chr22:g.27888073A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||7/11|NM_001284278.2:c.462+6482T>A|||||||rs2267123||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||A|A||||chr22:g.27888073A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||7/11|NM_012399.5:c.456+6482T>A|||||||rs2267123||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||A|A||||chr22:g.27888073A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||7/10|XM_011530052.3:c.462+6482T>A|||||||rs2267123||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||A|A||||chr22:g.27888073A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||8/8|XM_017028707.2:c.*43+4056T>A|||||||rs2267123||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||A|A||||chr22:g.27888073A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||7/10|XM_047441269.1:c.456+6482T>A|||||||rs2267123||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||A|A||||chr22:g.27888073A>T|||||||||||||;SpliceAI=T|PITPNB|0.00|0.00|0.00|0.00|26|-40|26|2;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26067;gnomADv4_1_AC_joint_XX=13045;gnomADv4_1_AC_joint_XY=13022;gnomADv4_1_AF_grpmax_joint=0.319992;gnomADv4_1_AF_joint=0.171286;gnomADv4_1_AF_joint_XX=0.167712;gnomADv4_1_AF_joint_XY=0.175022;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152184;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2467;gnomADv4_1_nhomalt_joint_XX=1189;gnomADv4_1_nhomalt_joint_XY=1278;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27890357 chr22_27890357_AT_A AT A 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.156;CADDIndel_Rawscore=-0.493246;CSQ=-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||7/10|ENST00000320996.14:c.456+4197del|||||||rs35291498||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||T|T||||chr22:g.27890369del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||7/11|ENST00000335272.10:c.456+4197del|||||||rs35291498||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||T|T||||chr22:g.27890369del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||7/8|ENST00000415296.5:c.237+4197del|||||||rs35291498||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||T|T||||chr22:g.27890369del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||7/7|ENST00000436663.1:c.462+4197del|||||||rs35291498||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||T|T||||chr22:g.27890369del|||||||||||||,-|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000465179|retained_intron||||||||||rs35291498|3803|-1||HGNC|HGNC:9002|2||||||||Ensembl||T|T||||chr22:g.27890369del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||4/7|ENST00000477861.1:n.440+4197del|||||||rs35291498||-1||HGNC|HGNC:9002|5||||||||Ensembl||T|T||||chr22:g.27890369del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||7/11|ENST00000634017.1:c.462+4197del|||||||rs35291498||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||T|T||||chr22:g.27890369del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||7/10|NM_001284277.2:c.456+4197del|||||||rs35291498||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||T|T||||chr22:g.27890369del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||7/11|NM_001284278.2:c.462+4197del|||||||rs35291498||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||T|T||||chr22:g.27890369del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||7/11|NM_012399.5:c.456+4197del|||||||rs35291498||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||T|T||||chr22:g.27890369del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||7/10|XM_011530052.3:c.462+4197del|||||||rs35291498||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||T|T||||chr22:g.27890369del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||8/8|XM_017028707.2:c.*43+1771del|||||||rs35291498||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||T|T||||chr22:g.27890369del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||7/10|XM_047441269.1:c.456+4197del|||||||rs35291498||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||T|T||||chr22:g.27890369del|||||||||||||;SpliceAI=A|PITPNB|0.00|0.00|0.00|0.00|-35|-9|39|15;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000465179,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14950;gnomADv4_1_AC_joint_XX=7579;gnomADv4_1_AC_joint_XY=7371;gnomADv4_1_AF_grpmax_joint=0.206294;gnomADv4_1_AF_joint=0.101093;gnomADv4_1_AF_joint_XX=0.0999288;gnomADv4_1_AF_joint_XY=0.102318;gnomADv4_1_AN_grpmax_joint=286;gnomADv4_1_AN_joint=147884;gnomADv4_1_AN_joint_XX=75844;gnomADv4_1_AN_joint_XY=72040;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=792;gnomADv4_1_nhomalt_joint_XX=387;gnomADv4_1_nhomalt_joint_XY=405;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27891477 chr22_27891477_A_G A G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.473;CADD_Rawscore=-0.207116;CSQ=G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||7/10|ENST00000320996.14:c.456+3078T>C|||||||rs2267124||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||A|A||||chr22:g.27891477A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||7/11|ENST00000335272.10:c.456+3078T>C|||||||rs2267124||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||A|A||||chr22:g.27891477A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||7/8|ENST00000415296.5:c.237+3078T>C|||||||rs2267124||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||A|A||||chr22:g.27891477A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||7/7|ENST00000436663.1:c.462+3078T>C|||||||rs2267124||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||A|A||||chr22:g.27891477A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000465179|retained_intron||||||||||rs2267124|2684|-1||HGNC|HGNC:9002|2||||||||Ensembl||A|A||||chr22:g.27891477A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||4/7|ENST00000477861.1:n.440+3078T>C|||||||rs2267124||-1||HGNC|HGNC:9002|5||||||||Ensembl||A|A||||chr22:g.27891477A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||7/11|ENST00000634017.1:c.462+3078T>C|||||||rs2267124||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||A|A||||chr22:g.27891477A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||7/10|NM_001284277.2:c.456+3078T>C|||||||rs2267124||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||A|A||||chr22:g.27891477A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||7/11|NM_001284278.2:c.462+3078T>C|||||||rs2267124||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||A|A||||chr22:g.27891477A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||7/11|NM_012399.5:c.456+3078T>C|||||||rs2267124||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||A|A||||chr22:g.27891477A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||7/10|XM_011530052.3:c.462+3078T>C|||||||rs2267124||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||A|A||||chr22:g.27891477A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||8/8|XM_017028707.2:c.*43+652T>C|||||||rs2267124||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||A|A||||chr22:g.27891477A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||7/10|XM_047441269.1:c.456+3078T>C|||||||rs2267124||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||A|A||||chr22:g.27891477A>G|||||||||||||;SpliceAI=G|PITPNB|0.00|0.00|0.00|0.00|4|-42|4|0;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000465179,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=79745;gnomADv4_1_AC_joint_XX=40223;gnomADv4_1_AC_joint_XY=39522;gnomADv4_1_AF_grpmax_joint=0.655862;gnomADv4_1_AF_joint=0.524583;gnomADv4_1_AF_joint_XX=0.517537;gnomADv4_1_AF_joint_XY=0.531953;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152016;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21806;gnomADv4_1_nhomalt_joint_XX=10815;gnomADv4_1_nhomalt_joint_XY=10991;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27892173 chr22_27892173_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.503;CADD_Rawscore=0.0886;CSQ=T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||7/10|ENST00000320996.14:c.456+2382G>A|||||||rs2267125||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||C|C||||chr22:g.27892173C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||7/11|ENST00000335272.10:c.456+2382G>A|||||||rs2267125||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||C|C||||chr22:g.27892173C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||7/8|ENST00000415296.5:c.237+2382G>A|||||||rs2267125||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||C|C||||chr22:g.27892173C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||7/7|ENST00000436663.1:c.462+2382G>A|||||||rs2267125||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||C|C||||chr22:g.27892173C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||||||||||rs2267125|4727|-1||HGNC|HGNC:9002|4||||||||Ensembl||C|C||||chr22:g.27892173C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000465179|retained_intron||||||||||rs2267125|1988|-1||HGNC|HGNC:9002|2||||||||Ensembl||C|C||||chr22:g.27892173C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||4/7|ENST00000477861.1:n.440+2382G>A|||||||rs2267125||-1||HGNC|HGNC:9002|5||||||||Ensembl||C|C||||chr22:g.27892173C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||7/11|ENST00000634017.1:c.462+2382G>A|||||||rs2267125||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||C|C||||chr22:g.27892173C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||7/10|NM_001284277.2:c.456+2382G>A|||||||rs2267125||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||C|C||||chr22:g.27892173C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||7/11|NM_001284278.2:c.462+2382G>A|||||||rs2267125||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||C|C||||chr22:g.27892173C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||7/11|NM_012399.5:c.456+2382G>A|||||||rs2267125||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||C|C||||chr22:g.27892173C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||7/10|XM_011530052.3:c.462+2382G>A|||||||rs2267125||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||C|C||||chr22:g.27892173C>T|||||||||||||,T|stop_retained_variant|LOW|PITPNB|23760|Transcript|XM_017028707.2|protein_coding|8/9||XM_017028707.2%3Ac.620G>A|XP_016884196.1%3Ap.Ter207%3D|749|620|207|*|tGa/tAa|rs2267125||-1||EntrezGene|HGNC%3A9002|||XP_016884196.1||||||RefSeq||C|C||||chr22%3Ag.27892173C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||7/10|XM_047441269.1:c.456+2382G>A|||||||rs2267125||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||C|C||||chr22:g.27892173C>T|||||||||||||;SpliceAI=T|PITPNB|0.00|0.00|0.00|0.00|-16|50|-2|-44;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000460566,ENST00000465179,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14928;gnomADv4_1_AC_joint_XX=7562;gnomADv4_1_AC_joint_XY=7366;gnomADv4_1_AF_grpmax_joint=0.20068;gnomADv4_1_AF_joint=0.0980673;gnomADv4_1_AF_joint_XX=0.0972004;gnomADv4_1_AF_joint_XY=0.0989734;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152222;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=805;gnomADv4_1_nhomalt_joint_XX=390;gnomADv4_1_nhomalt_joint_XY=415;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27892499 chr22_27892499_G_A G A 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=6.055;CADD_Rawscore=0.558726;CSQ=A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||7/10|ENST00000320996.14:c.456+2056C>T|||||||rs5762395||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||G|G||||chr22:g.27892499G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||7/11|ENST00000335272.10:c.456+2056C>T|||||||rs5762395||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||G|G||||chr22:g.27892499G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||7/8|ENST00000415296.5:c.237+2056C>T|||||||rs5762395||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||G|G||||chr22:g.27892499G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||7/7|ENST00000436663.1:c.462+2056C>T|||||||rs5762395||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||G|G||||chr22:g.27892499G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||||||||||rs5762395|4401|-1||HGNC|HGNC:9002|4||||||||Ensembl||G|G||||chr22:g.27892499G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000465179|retained_intron||||||||||rs5762395|1662|-1||HGNC|HGNC:9002|2||||||||Ensembl||G|G||||chr22:g.27892499G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||4/7|ENST00000477861.1:n.440+2056C>T|||||||rs5762395||-1||HGNC|HGNC:9002|5||||||||Ensembl||G|G||||chr22:g.27892499G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||7/11|ENST00000634017.1:c.462+2056C>T|||||||rs5762395||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||G|G||||chr22:g.27892499G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||7/10|NM_001284277.2:c.456+2056C>T|||||||rs5762395||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||G|G||||chr22:g.27892499G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||7/11|NM_001284278.2:c.462+2056C>T|||||||rs5762395||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||G|G||||chr22:g.27892499G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||7/11|NM_012399.5:c.456+2056C>T|||||||rs5762395||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||G|G||||chr22:g.27892499G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||7/10|XM_011530052.3:c.462+2056C>T|||||||rs5762395||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||G|G||||chr22:g.27892499G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||7/8|XM_017028707.2:c.463-169C>T|||||||rs5762395||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||G|G||||chr22:g.27892499G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||7/10|XM_047441269.1:c.456+2056C>T|||||||rs5762395||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||G|G||||chr22:g.27892499G>A|||||||||||||;SpliceAI=A|PITPNB|0.00|0.00|0.00|0.00|2|37|2|-14;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000460566,ENST00000465179,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25281;gnomADv4_1_AC_joint_XX=12819;gnomADv4_1_AC_joint_XY=12462;gnomADv4_1_AF_grpmax_joint=0.260274;gnomADv4_1_AF_joint=0.166209;gnomADv4_1_AF_joint_XX=0.164845;gnomADv4_1_AF_joint_XY=0.167635;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152104;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2279;gnomADv4_1_nhomalt_joint_XX=1136;gnomADv4_1_nhomalt_joint_XY=1143;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27892524 chr22_27892524_G_C G C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.801;CADD_Rawscore=-0.074923;CSQ=C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||7/10|ENST00000320996.14:c.456+2031C>G|||||||rs5762396||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||G|G||||chr22:g.27892524G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||7/11|ENST00000335272.10:c.456+2031C>G|||||||rs5762396||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||G|G||||chr22:g.27892524G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||7/8|ENST00000415296.5:c.237+2031C>G|||||||rs5762396||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||G|G||||chr22:g.27892524G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||7/7|ENST00000436663.1:c.462+2031C>G|||||||rs5762396||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||G|G||||chr22:g.27892524G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||||||||||rs5762396|4376|-1||HGNC|HGNC:9002|4||||||||Ensembl||G|G||||chr22:g.27892524G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000465179|retained_intron||||||||||rs5762396|1637|-1||HGNC|HGNC:9002|2||||||||Ensembl||G|G||||chr22:g.27892524G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||4/7|ENST00000477861.1:n.440+2031C>G|||||||rs5762396||-1||HGNC|HGNC:9002|5||||||||Ensembl||G|G||||chr22:g.27892524G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||7/11|ENST00000634017.1:c.462+2031C>G|||||||rs5762396||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||G|G||||chr22:g.27892524G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||7/10|NM_001284277.2:c.456+2031C>G|||||||rs5762396||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||G|G||||chr22:g.27892524G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||7/11|NM_001284278.2:c.462+2031C>G|||||||rs5762396||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||G|G||||chr22:g.27892524G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||7/11|NM_012399.5:c.456+2031C>G|||||||rs5762396||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||G|G||||chr22:g.27892524G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||7/10|XM_011530052.3:c.462+2031C>G|||||||rs5762396||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||G|G||||chr22:g.27892524G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||7/8|XM_017028707.2:c.463-194C>G|||||||rs5762396||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||G|G||||chr22:g.27892524G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||7/10|XM_047441269.1:c.456+2031C>G|||||||rs5762396||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||G|G||||chr22:g.27892524G>C|||||||||||||;SpliceAI=C|PITPNB|0.00|0.00|0.00|0.00|-1|9|1|-9;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000460566,ENST00000465179,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25287;gnomADv4_1_AC_joint_XX=12818;gnomADv4_1_AC_joint_XY=12469;gnomADv4_1_AF_grpmax_joint=0.257488;gnomADv4_1_AF_joint=0.166312;gnomADv4_1_AF_joint_XX=0.16487;gnomADv4_1_AF_joint_XY=0.16782;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2277;gnomADv4_1_nhomalt_joint_XX=1135;gnomADv4_1_nhomalt_joint_XY=1142;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27893131 chr22_27893131_A_T A T 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=0.183;CADD_Rawscore=-0.449625;CSQ=T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||7/10|ENST00000320996.14:c.456+1424T>A|||||||rs113196670||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||A|A||||chr22:g.27893131A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||7/11|ENST00000335272.10:c.456+1424T>A|||||||rs113196670||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||A|A||||chr22:g.27893131A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||7/8|ENST00000415296.5:c.237+1424T>A|||||||rs113196670||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||A|A||||chr22:g.27893131A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||7/7|ENST00000436663.1:c.462+1424T>A|||||||rs113196670||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||A|A||||chr22:g.27893131A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||||||||||rs113196670|3769|-1||HGNC|HGNC:9002|4||||||||Ensembl||A|A||||chr22:g.27893131A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000465179|retained_intron||||||||||rs113196670|1030|-1||HGNC|HGNC:9002|2||||||||Ensembl||A|A||||chr22:g.27893131A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||4/7|ENST00000477861.1:n.440+1424T>A|||||||rs113196670||-1||HGNC|HGNC:9002|5||||||||Ensembl||A|A||||chr22:g.27893131A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||7/11|ENST00000634017.1:c.462+1424T>A|||||||rs113196670||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||A|A||||chr22:g.27893131A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||7/10|NM_001284277.2:c.456+1424T>A|||||||rs113196670||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||A|A||||chr22:g.27893131A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||7/11|NM_001284278.2:c.462+1424T>A|||||||rs113196670||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||A|A||||chr22:g.27893131A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||7/11|NM_012399.5:c.456+1424T>A|||||||rs113196670||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||A|A||||chr22:g.27893131A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||7/10|XM_011530052.3:c.462+1424T>A|||||||rs113196670||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||A|A||||chr22:g.27893131A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||7/8|XM_017028707.2:c.463-801T>A|||||||rs113196670||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||A|A||||chr22:g.27893131A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||7/10|XM_047441269.1:c.456+1424T>A|||||||rs113196670||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||A|A||||chr22:g.27893131A>T|||||||||||||;SpliceAI=T|PITPNB|0.02|0.00|0.02|0.00|18|-34|-37|2;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000460566,ENST00000465179,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=609;gnomADv4_1_AC_joint_XX=341;gnomADv4_1_AC_joint_XY=268;gnomADv4_1_AF_grpmax_joint=0.0306122;gnomADv4_1_AF_joint=0.00399722;gnomADv4_1_AF_joint_XX=0.00438033;gnomADv4_1_AF_joint_XY=0.00359693;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152356;gnomADv4_1_AN_joint_XX=77848;gnomADv4_1_AN_joint_XY=74508;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27897992 chr22_27897992_G_C G C 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.018;CADD_Rawscore=-1.09225;CSQ=C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||3/10|ENST00000320996.14:c.198-100C>G|||||||rs738451||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||G|G||||chr22:g.27897992G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||3/11|ENST00000335272.10:c.198-100C>G|||||||rs738451||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||G|G||||chr22:g.27897992G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||3/8|ENST00000415296.5:c.-22-100C>G|||||||rs738451||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||G|G||||chr22:g.27897992G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||3/7|ENST00000436663.1:c.204-100C>G|||||||rs738451||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||G|G||||chr22:g.27897992G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||3/4|ENST00000460566.5:n.263-100C>G|||||||rs738451||-1||HGNC|HGNC:9002|4||||||||Ensembl||G|G||||chr22:g.27897992G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000465179|retained_intron||||||||||rs738451|1290|-1||HGNC|HGNC:9002|2||||||||Ensembl||G|G||||chr22:g.27897992G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron|1/8||ENST00000477861.1:n.82C>G||82|||||rs738451||-1||HGNC|HGNC:9002|5||||||||Ensembl||G|G||||chr22:g.27897992G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||3/11|ENST00000634017.1:c.204-100C>G|||||||rs738451||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||G|G||||chr22:g.27897992G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||3/10|NM_001284277.2:c.198-100C>G|||||||rs738451||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||G|G||||chr22:g.27897992G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||3/11|NM_001284278.2:c.204-100C>G|||||||rs738451||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||G|G||||chr22:g.27897992G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||3/11|NM_012399.5:c.198-100C>G|||||||rs738451||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||G|G||||chr22:g.27897992G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||3/10|XM_011530052.3:c.204-100C>G|||||||rs738451||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||G|G||||chr22:g.27897992G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||3/8|XM_017028707.2:c.204-100C>G|||||||rs738451||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||G|G||||chr22:g.27897992G>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||3/10|XM_047441269.1:c.198-100C>G|||||||rs738451||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||G|G||||chr22:g.27897992G>C|||||||||||||;SpliceAI=C|PITPNB|0.01|0.00|0.00|0.00|-35|9|1|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000460566,ENST00000465179,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=391327;gnomADv4_1_AC_joint_XX=183839;gnomADv4_1_AC_joint_XY=207488;gnomADv4_1_AF_grpmax_joint=0.770007;gnomADv4_1_AF_joint=0.50416;gnomADv4_1_AF_joint_XX=0.500005;gnomADv4_1_AF_joint_XY=0.507899;gnomADv4_1_AN_grpmax_joint=59428;gnomADv4_1_AN_joint=776196;gnomADv4_1_AN_joint_XX=367674;gnomADv4_1_AN_joint_XY=408522;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=104815;gnomADv4_1_nhomalt_joint_XX=49010;gnomADv4_1_nhomalt_joint_XY=55805;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27900212 chr22_27900212_TA_T TA T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.329;CADDIndel_Rawscore=-0.298625;CSQ=-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||3/10|ENST00000320996.14:c.198-2321del|||||||rs71316826||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||A|A||||chr22:g.27900225del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||3/11|ENST00000335272.10:c.198-2321del|||||||rs71316826||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||A|A||||chr22:g.27900225del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||3/8|ENST00000415296.5:c.-22-2321del|||||||rs71316826||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||A|A||||chr22:g.27900225del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||3/7|ENST00000436663.1:c.204-2321del|||||||rs71316826||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||A|A||||chr22:g.27900225del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||3/4|ENST00000460566.5:n.263-2321del|||||||rs71316826||-1||HGNC|HGNC:9002|4||||||||Ensembl||A|A||||chr22:g.27900225del|||||||||||||,-|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000465179|retained_intron||||||||||rs71316826|3511|-1||HGNC|HGNC:9002|2||||||||Ensembl||A|A||||chr22:g.27900225del|||||||||||||,-|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||||||||||rs71316826|2140|-1||HGNC|HGNC:9002|5||||||||Ensembl||A|A||||chr22:g.27900225del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||3/11|ENST00000634017.1:c.204-2321del|||||||rs71316826||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||A|A||||chr22:g.27900225del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||3/10|NM_001284277.2:c.198-2321del|||||||rs71316826||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||A|A||||chr22:g.27900225del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||3/11|NM_001284278.2:c.204-2321del|||||||rs71316826||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||A|A||||chr22:g.27900225del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||3/11|NM_012399.5:c.198-2321del|||||||rs71316826||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||A|A||||chr22:g.27900225del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||3/10|XM_011530052.3:c.204-2321del|||||||rs71316826||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||A|A||||chr22:g.27900225del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||3/8|XM_017028707.2:c.204-2321del|||||||rs71316826||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||A|A||||chr22:g.27900225del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||3/10|XM_047441269.1:c.198-2321del|||||||rs71316826||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||A|A||||chr22:g.27900225del|||||||||||||;SpliceAI=T|PITPNB|0.00|0.00|0.00|0.00|-16|46|-16|-17;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000460566,ENST00000465179,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27494;gnomADv4_1_AC_joint_XX=14086;gnomADv4_1_AC_joint_XY=13408;gnomADv4_1_AF_grpmax_joint=0.31276;gnomADv4_1_AF_joint=0.240378;gnomADv4_1_AF_joint_XX=0.239305;gnomADv4_1_AF_joint_XY=0.241516;gnomADv4_1_AN_grpmax_joint=3840;gnomADv4_1_AN_joint=114378;gnomADv4_1_AN_joint_XX=58862;gnomADv4_1_AN_joint_XY=55516;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2555;gnomADv4_1_nhomalt_joint_XX=1300;gnomADv4_1_nhomalt_joint_XY=1255;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27900652 chr22_27900652_C_T C T 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=0.392;CADD_Rawscore=-0.254326;CSQ=T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||3/10|ENST00000320996.14:c.198-2760G>A|||||||rs2013115||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||C|C||||chr22:g.27900652C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||3/11|ENST00000335272.10:c.198-2760G>A|||||||rs2013115||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||C|C||||chr22:g.27900652C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||3/8|ENST00000415296.5:c.-22-2760G>A|||||||rs2013115||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||C|C||||chr22:g.27900652C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||3/7|ENST00000436663.1:c.204-2760G>A|||||||rs2013115||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||C|C||||chr22:g.27900652C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||3/4|ENST00000460566.5:n.263-2760G>A|||||||rs2013115||-1||HGNC|HGNC:9002|4||||||||Ensembl||C|C||||chr22:g.27900652C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000465179|retained_intron||||||||||rs2013115|3950|-1||HGNC|HGNC:9002|2||||||||Ensembl||C|C||||chr22:g.27900652C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||||||||||rs2013115|2579|-1||HGNC|HGNC:9002|5||||||||Ensembl||C|C||||chr22:g.27900652C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||3/11|ENST00000634017.1:c.204-2760G>A|||||||rs2013115||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||C|C||||chr22:g.27900652C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||3/10|NM_001284277.2:c.198-2760G>A|||||||rs2013115||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||C|C||||chr22:g.27900652C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||3/11|NM_001284278.2:c.204-2760G>A|||||||rs2013115||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||C|C||||chr22:g.27900652C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||3/11|NM_012399.5:c.198-2760G>A|||||||rs2013115||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||C|C||||chr22:g.27900652C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||3/10|XM_011530052.3:c.204-2760G>A|||||||rs2013115||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||C|C||||chr22:g.27900652C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||3/8|XM_017028707.2:c.204-2760G>A|||||||rs2013115||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||C|C||||chr22:g.27900652C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||3/10|XM_047441269.1:c.198-2760G>A|||||||rs2013115||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||C|C||||chr22:g.27900652C>T|||||||||||||;SpliceAI=T|PITPNB|0.00|0.00|0.00|0.00|-2|-21|3|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000460566,ENST00000465179,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31877;gnomADv4_1_AC_joint_XX=16166;gnomADv4_1_AC_joint_XY=15711;gnomADv4_1_AF_grpmax_joint=0.307101;gnomADv4_1_AF_joint=0.209645;gnomADv4_1_AF_joint_XX=0.207982;gnomADv4_1_AF_joint_XY=0.211385;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152052;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3453;gnomADv4_1_nhomalt_joint_XX=1712;gnomADv4_1_nhomalt_joint_XY=1741;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27902348 chr22_27902348_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.291;CADD_Rawscore=0.048846;CSQ=A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||3/10|ENST00000320996.14:c.198-4456C>T|||||||rs2143180||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||G|G||||chr22:g.27902348G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||3/11|ENST00000335272.10:c.198-4456C>T|||||||rs2143180||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||G|G||||chr22:g.27902348G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||3/8|ENST00000415296.5:c.-22-4456C>T|||||||rs2143180||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||G|G||||chr22:g.27902348G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||3/7|ENST00000436663.1:c.204-4456C>T|||||||rs2143180||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||G|G||||chr22:g.27902348G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||3/4|ENST00000460566.5:n.263-4456C>T|||||||rs2143180||-1||HGNC|HGNC:9002|4||||||||Ensembl||G|G||||chr22:g.27902348G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000477861|retained_intron||||||||||rs2143180|4275|-1||HGNC|HGNC:9002|5||||||||Ensembl||G|G||||chr22:g.27902348G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||3/11|ENST00000634017.1:c.204-4456C>T|||||||rs2143180||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||G|G||||chr22:g.27902348G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||3/10|NM_001284277.2:c.198-4456C>T|||||||rs2143180||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||G|G||||chr22:g.27902348G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||3/11|NM_001284278.2:c.204-4456C>T|||||||rs2143180||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||G|G||||chr22:g.27902348G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||3/11|NM_012399.5:c.198-4456C>T|||||||rs2143180||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||G|G||||chr22:g.27902348G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||3/10|XM_011530052.3:c.204-4456C>T|||||||rs2143180||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||G|G||||chr22:g.27902348G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||3/8|XM_017028707.2:c.204-4456C>T|||||||rs2143180||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||G|G||||chr22:g.27902348G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||3/10|XM_047441269.1:c.198-4456C>T|||||||rs2143180||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||G|G||||chr22:g.27902348G>A|||||||||||||;SpliceAI=A|PITPNB|0.00|0.00|0.00|0.00|-26|23|25|32;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000460566,ENST00000477861,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15764;gnomADv4_1_AC_joint_XX=7824;gnomADv4_1_AC_joint_XY=7940;gnomADv4_1_AF_grpmax_joint=0.252811;gnomADv4_1_AF_joint=0.103687;gnomADv4_1_AF_joint_XX=0.100687;gnomADv4_1_AF_joint_XY=0.106824;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=152034;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=935;gnomADv4_1_nhomalt_joint_XX=422;gnomADv4_1_nhomalt_joint_XY=513;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27903777 chr22_27903777_C_CA C CA 15 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=15;CADDIndel_PHREDscore=0.825;CADDIndel_Rawscore=-0.067175;CSQ=A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||3/10|ENST00000320996.14:c.198-5886dup|||||||rs58453570||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl|||||||chr22:g.27903797dup|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||3/11|ENST00000335272.10:c.198-5886dup|||||||rs58453570||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl|||||||chr22:g.27903797dup|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||3/8|ENST00000415296.5:c.-22-5886dup|||||||rs58453570||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl|||||||chr22:g.27903797dup|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||3/7|ENST00000436663.1:c.204-5886dup|||||||rs58453570||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl|||||||chr22:g.27903797dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||3/4|ENST00000460566.5:n.263-5886dup|||||||rs58453570||-1||HGNC|HGNC:9002|4||||||||Ensembl|||||||chr22:g.27903797dup|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||3/11|ENST00000634017.1:c.204-5886dup|||||||rs58453570||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl|||||||chr22:g.27903797dup|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||3/10|NM_001284277.2:c.198-5886dup|||||||rs58453570||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq|||||||chr22:g.27903797dup|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||3/11|NM_001284278.2:c.204-5886dup|||||||rs58453570||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq|||||||chr22:g.27903797dup|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||3/11|NM_012399.5:c.198-5886dup|||||||rs58453570||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq|||||||chr22:g.27903797dup|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||3/10|XM_011530052.3:c.204-5886dup|||||||rs58453570||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq|||||||chr22:g.27903797dup|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||3/8|XM_017028707.2:c.204-5886dup|||||||rs58453570||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq|||||||chr22:g.27903797dup|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||3/10|XM_047441269.1:c.198-5886dup|||||||rs58453570||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq|||||||chr22:g.27903797dup|||||||||||||;SpliceAI=CA|PITPNB|0.00|0.00|0.00|0.00|-9|20|42|34;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000460566,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11663;gnomADv4_1_AC_joint_XX=6470;gnomADv4_1_AC_joint_XY=5193;gnomADv4_1_AF_grpmax_joint=0.195451;gnomADv4_1_AF_joint=0.138898;gnomADv4_1_AF_joint_XX=0.143983;gnomADv4_1_AF_joint_XY=0.133045;gnomADv4_1_AN_grpmax_joint=2594;gnomADv4_1_AN_joint=83968;gnomADv4_1_AN_joint_XX=44936;gnomADv4_1_AN_joint_XY=39032;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=652;gnomADv4_1_nhomalt_joint_XX=370;gnomADv4_1_nhomalt_joint_XY=282;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27905496 chr22_27905496_G_A G A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.351;CADD_Rawscore=-0.281818;CSQ=A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||3/10|ENST00000320996.14:c.197+5468C>T|||||||rs1983592||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||G|G||||chr22:g.27905496G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||3/11|ENST00000335272.10:c.197+5468C>T|||||||rs1983592||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||G|G||||chr22:g.27905496G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||3/8|ENST00000415296.5:c.-23+5468C>T|||||||rs1983592||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||G|G||||chr22:g.27905496G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||3/7|ENST00000436663.1:c.203+5468C>T|||||||rs1983592||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||G|G||||chr22:g.27905496G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||3/4|ENST00000460566.5:n.262+5468C>T|||||||rs1983592||-1||HGNC|HGNC:9002|4||||||||Ensembl||G|G||||chr22:g.27905496G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000471825|retained_intron||||||||||rs1983592|4952|-1||HGNC|HGNC:9002|2||||||||Ensembl||G|G||||chr22:g.27905496G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||3/11|ENST00000634017.1:c.203+5468C>T|||||||rs1983592||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||G|G||||chr22:g.27905496G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||3/10|NM_001284277.2:c.197+5468C>T|||||||rs1983592||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||G|G||||chr22:g.27905496G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||3/11|NM_001284278.2:c.203+5468C>T|||||||rs1983592||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||G|G||||chr22:g.27905496G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||3/11|NM_012399.5:c.197+5468C>T|||||||rs1983592||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||G|G||||chr22:g.27905496G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||3/10|XM_011530052.3:c.203+5468C>T|||||||rs1983592||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||G|G||||chr22:g.27905496G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||3/8|XM_017028707.2:c.203+5468C>T|||||||rs1983592||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||G|G||||chr22:g.27905496G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||3/10|XM_047441269.1:c.197+5468C>T|||||||rs1983592||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||G|G||||chr22:g.27905496G>A|||||||||||||;SpliceAI=A|PITPNB|0.00|0.00|0.00|0.00|-19|-50|-19|-34;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000460566,ENST00000471825,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=147192;gnomADv4_1_AC_joint_XX=75084;gnomADv4_1_AC_joint_XY=72108;gnomADv4_1_AF_grpmax_joint=0.999615;gnomADv4_1_AF_joint=0.966144;gnomADv4_1_AF_joint_XX=0.964346;gnomADv4_1_AF_joint_XY=0.968023;gnomADv4_1_AN_grpmax_joint=5192;gnomADv4_1_AN_joint=152350;gnomADv4_1_AN_joint_XX=77860;gnomADv4_1_AN_joint_XY=74490;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=71152;gnomADv4_1_nhomalt_joint_XX=36235;gnomADv4_1_nhomalt_joint_XY=34917;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27905755 chr22_27905755_C_T C T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.235;CADD_Rawscore=-0.384464;CSQ=T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||3/10|ENST00000320996.14:c.197+5209G>A|||||||rs738453||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||C|C||||chr22:g.27905755C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||3/11|ENST00000335272.10:c.197+5209G>A|||||||rs738453||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||C|C||||chr22:g.27905755C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||3/8|ENST00000415296.5:c.-23+5209G>A|||||||rs738453||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||C|C||||chr22:g.27905755C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||3/7|ENST00000436663.1:c.203+5209G>A|||||||rs738453||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||C|C||||chr22:g.27905755C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||3/4|ENST00000460566.5:n.262+5209G>A|||||||rs738453||-1||HGNC|HGNC:9002|4||||||||Ensembl||C|C||||chr22:g.27905755C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000471825|retained_intron||||||||||rs738453|4693|-1||HGNC|HGNC:9002|2||||||||Ensembl||C|C||||chr22:g.27905755C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||3/11|ENST00000634017.1:c.203+5209G>A|||||||rs738453||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||C|C||||chr22:g.27905755C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||3/10|NM_001284277.2:c.197+5209G>A|||||||rs738453||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||C|C||||chr22:g.27905755C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||3/11|NM_001284278.2:c.203+5209G>A|||||||rs738453||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||C|C||||chr22:g.27905755C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||3/11|NM_012399.5:c.197+5209G>A|||||||rs738453||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||C|C||||chr22:g.27905755C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||3/10|XM_011530052.3:c.203+5209G>A|||||||rs738453||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||C|C||||chr22:g.27905755C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||3/8|XM_017028707.2:c.203+5209G>A|||||||rs738453||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||C|C||||chr22:g.27905755C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||3/10|XM_047441269.1:c.197+5209G>A|||||||rs738453||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||C|C||||chr22:g.27905755C>T|||||||||||||;SpliceAI=T|PITPNB|0.00|0.00|0.00|0.00|-5|1|27|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000460566,ENST00000471825,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61321;gnomADv4_1_AC_joint_XX=30930;gnomADv4_1_AC_joint_XY=30391;gnomADv4_1_AF_grpmax_joint=0.50825;gnomADv4_1_AF_joint=0.403353;gnomADv4_1_AF_joint_XX=0.397957;gnomADv4_1_AF_joint_XY=0.408998;gnomADv4_1_AN_grpmax_joint=15272;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=12732;gnomADv4_1_nhomalt_joint_XX=6333;gnomADv4_1_nhomalt_joint_XY=6399;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27906259 chr22_27906259_A_C A C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=5.539;CADD_Rawscore=0.507336;CSQ=C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||3/10|ENST00000320996.14:c.197+4705T>G|||||||rs1807580||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||A|A||||chr22:g.27906259A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||3/11|ENST00000335272.10:c.197+4705T>G|||||||rs1807580||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||A|A||||chr22:g.27906259A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||3/8|ENST00000415296.5:c.-23+4705T>G|||||||rs1807580||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||A|A||||chr22:g.27906259A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||3/7|ENST00000436663.1:c.203+4705T>G|||||||rs1807580||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||A|A||||chr22:g.27906259A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||3/4|ENST00000460566.5:n.262+4705T>G|||||||rs1807580||-1||HGNC|HGNC:9002|4||||||||Ensembl||A|A||||chr22:g.27906259A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000471825|retained_intron||||||||||rs1807580|4189|-1||HGNC|HGNC:9002|2||||||||Ensembl||A|A||||chr22:g.27906259A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||3/11|ENST00000634017.1:c.203+4705T>G|||||||rs1807580||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||A|A||||chr22:g.27906259A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||3/10|NM_001284277.2:c.197+4705T>G|||||||rs1807580||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||A|A||||chr22:g.27906259A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||3/11|NM_001284278.2:c.203+4705T>G|||||||rs1807580||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||A|A||||chr22:g.27906259A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||3/11|NM_012399.5:c.197+4705T>G|||||||rs1807580||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||A|A||||chr22:g.27906259A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||3/10|XM_011530052.3:c.203+4705T>G|||||||rs1807580||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||A|A||||chr22:g.27906259A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||3/8|XM_017028707.2:c.203+4705T>G|||||||rs1807580||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||A|A||||chr22:g.27906259A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||3/10|XM_047441269.1:c.197+4705T>G|||||||rs1807580||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||A|A||||chr22:g.27906259A>C|||||||||||||;SpliceAI=C|PITPNB|0.00|0.00|0.00|0.00|-1|-37|1|9;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000460566,ENST00000471825,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152356;gnomADv4_1_AC_joint_XX=77864;gnomADv4_1_AC_joint_XY=74492;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68044;gnomADv4_1_AN_joint=152356;gnomADv4_1_AN_joint_XX=77864;gnomADv4_1_AN_joint_XY=74492;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76178;gnomADv4_1_nhomalt_joint_XX=38932;gnomADv4_1_nhomalt_joint_XY=37246;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27907087 chr22_27907087_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.069;CADD_Rawscore=-0.712033;CSQ=C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||3/10|ENST00000320996.14:c.197+3877A>G|||||||rs74969317||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||T|T||||chr22:g.27907087T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||3/11|ENST00000335272.10:c.197+3877A>G|||||||rs74969317||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||T|T||||chr22:g.27907087T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||3/8|ENST00000415296.5:c.-23+3877A>G|||||||rs74969317||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||T|T||||chr22:g.27907087T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||3/7|ENST00000436663.1:c.203+3877A>G|||||||rs74969317||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||T|T||||chr22:g.27907087T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||3/4|ENST00000460566.5:n.262+3877A>G|||||||rs74969317||-1||HGNC|HGNC:9002|4||||||||Ensembl||T|T||||chr22:g.27907087T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000471825|retained_intron||||||||||rs74969317|3361|-1||HGNC|HGNC:9002|2||||||||Ensembl||T|T||||chr22:g.27907087T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||3/11|ENST00000634017.1:c.203+3877A>G|||||||rs74969317||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||T|T||||chr22:g.27907087T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||3/10|NM_001284277.2:c.197+3877A>G|||||||rs74969317||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||T|T||||chr22:g.27907087T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||3/11|NM_001284278.2:c.203+3877A>G|||||||rs74969317||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||T|T||||chr22:g.27907087T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||3/11|NM_012399.5:c.197+3877A>G|||||||rs74969317||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||T|T||||chr22:g.27907087T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||3/10|XM_011530052.3:c.203+3877A>G|||||||rs74969317||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||T|T||||chr22:g.27907087T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||3/8|XM_017028707.2:c.203+3877A>G|||||||rs74969317||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||T|T||||chr22:g.27907087T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||3/10|XM_047441269.1:c.197+3877A>G|||||||rs74969317||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||T|T||||chr22:g.27907087T>C|||||||||||||;SpliceAI=C|PITPNB|0.00|0.00|0.00|0.00|17|6|1|33;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000460566,ENST00000471825,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5245;gnomADv4_1_AC_joint_XX=2862;gnomADv4_1_AC_joint_XY=2383;gnomADv4_1_AF_grpmax_joint=0.0918367;gnomADv4_1_AF_joint=0.0344354;gnomADv4_1_AF_joint_XX=0.0367677;gnomADv4_1_AF_joint_XY=0.0319977;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152314;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74474;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=131;gnomADv4_1_nhomalt_joint_XX=76;gnomADv4_1_nhomalt_joint_XY=55;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27909950 chr22_27909950_CT_C CT C 34 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=34;CADDIndel_PHREDscore=0.59;CADDIndel_Rawscore=-0.151628;CSQ=-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||3/10|ENST00000320996.14:c.197+1013del|||||||rs544649700||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||T|T||||chr22:g.27909969del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||3/11|ENST00000335272.10:c.197+1013del|||||||rs544649700||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||T|T||||chr22:g.27909969del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||3/8|ENST00000415296.5:c.-23+1013del|||||||rs544649700||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||T|T||||chr22:g.27909969del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||3/7|ENST00000436663.1:c.203+1013del|||||||rs544649700||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||T|T||||chr22:g.27909969del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||3/4|ENST00000460566.5:n.262+1013del|||||||rs544649700||-1||HGNC|HGNC:9002|4||||||||Ensembl||T|T||||chr22:g.27909969del|||||||||||||,-|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000471825|retained_intron||||||||||rs544649700|497|-1||HGNC|HGNC:9002|2||||||||Ensembl||T|T||||chr22:g.27909969del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||3/11|ENST00000634017.1:c.203+1013del|||||||rs544649700||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||T|T||||chr22:g.27909969del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||3/10|NM_001284277.2:c.197+1013del|||||||rs544649700||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||T|T||||chr22:g.27909969del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||3/11|NM_001284278.2:c.203+1013del|||||||rs544649700||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||T|T||||chr22:g.27909969del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||3/11|NM_012399.5:c.197+1013del|||||||rs544649700||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||T|T||||chr22:g.27909969del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||3/10|XM_011530052.3:c.203+1013del|||||||rs544649700||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||T|T||||chr22:g.27909969del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||3/8|XM_017028707.2:c.203+1013del|||||||rs544649700||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||T|T||||chr22:g.27909969del|||||||||||||,-|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||3/10|XM_047441269.1:c.197+1013del|||||||rs544649700||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||T|T||||chr22:g.27909969del|||||||||||||;SpliceAI=C|PITPNB|0.00|0.00|0.00|0.00|-21|46|-21|43;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000460566,ENST00000471825,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12144;gnomADv4_1_AC_joint_XX=6421;gnomADv4_1_AC_joint_XY=5723;gnomADv4_1_AF_grpmax_joint=0.166667;gnomADv4_1_AF_joint=0.0932461;gnomADv4_1_AF_joint_XX=0.0947609;gnomADv4_1_AF_joint_XY=0.0916032;gnomADv4_1_AN_grpmax_joint=234;gnomADv4_1_AN_joint=130236;gnomADv4_1_AN_joint_XX=67760;gnomADv4_1_AN_joint_XY=62476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=372;gnomADv4_1_nhomalt_joint_XX=196;gnomADv4_1_nhomalt_joint_XY=176;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27910315 chr22_27910315_C_T C T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.091;CADD_Rawscore=-0.637127;CSQ=T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||3/10|ENST00000320996.14:c.197+649G>A|||||||rs5762398||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||C|C||||chr22:g.27910315C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||3/11|ENST00000335272.10:c.197+649G>A|||||||rs5762398||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||C|C||||chr22:g.27910315C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||3/8|ENST00000415296.5:c.-23+649G>A|||||||rs5762398||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||C|C||||chr22:g.27910315C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||3/7|ENST00000436663.1:c.203+649G>A|||||||rs5762398||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||C|C||||chr22:g.27910315C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||3/4|ENST00000460566.5:n.262+649G>A|||||||rs5762398||-1||HGNC|HGNC:9002|4||||||||Ensembl||C|C||||chr22:g.27910315C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000471825|retained_intron||||||||||rs5762398|133|-1||HGNC|HGNC:9002|2||||||||Ensembl||C|C||||chr22:g.27910315C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||3/11|ENST00000634017.1:c.203+649G>A|||||||rs5762398||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||C|C||||chr22:g.27910315C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||3/10|NM_001284277.2:c.197+649G>A|||||||rs5762398||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||C|C||||chr22:g.27910315C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||3/11|NM_001284278.2:c.203+649G>A|||||||rs5762398||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||C|C||||chr22:g.27910315C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||3/11|NM_012399.5:c.197+649G>A|||||||rs5762398||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||C|C||||chr22:g.27910315C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||3/10|XM_011530052.3:c.203+649G>A|||||||rs5762398||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||C|C||||chr22:g.27910315C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||3/8|XM_017028707.2:c.203+649G>A|||||||rs5762398||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||C|C||||chr22:g.27910315C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||3/10|XM_047441269.1:c.197+649G>A|||||||rs5762398||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||C|C||||chr22:g.27910315C>T|||||||||||||;SpliceAI=T|PITPNB|0.00|0.00|0.00|0.00|-23|46|-10|-37;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000460566,ENST00000471825,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10101;gnomADv4_1_AC_joint_XX=5200;gnomADv4_1_AC_joint_XY=4901;gnomADv4_1_AF_grpmax_joint=0.163265;gnomADv4_1_AF_joint=0.0663535;gnomADv4_1_AF_joint_XX=0.0668827;gnomADv4_1_AF_joint_XY=0.0658011;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152230;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74482;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=474;gnomADv4_1_nhomalt_joint_XX=249;gnomADv4_1_nhomalt_joint_XY=225;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27913007 chr22_27913007_G_A G A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.15;CADD_Rawscore=-0.502148;CSQ=A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||2/10|ENST00000320996.14:c.51+1310C>T|||||||rs5762400||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||G|G||||chr22:g.27913007G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||2/11|ENST00000335272.10:c.51+1310C>T|||||||rs5762400||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||G|G||||chr22:g.27913007G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||2/8|ENST00000415296.5:c.-169+1310C>T|||||||rs5762400||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||G|G||||chr22:g.27913007G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||2/7|ENST00000436663.1:c.57+1310C>T|||||||rs5762400||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||G|G||||chr22:g.27913007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||2/4|ENST00000460566.5:n.116+1310C>T|||||||rs5762400||-1||HGNC|HGNC:9002|4||||||||Ensembl||G|G||||chr22:g.27913007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000471825|retained_intron||2/2|ENST00000471825.1:n.104+1310C>T|||||||rs5762400||-1||HGNC|HGNC:9002|2||||||||Ensembl||G|G||||chr22:g.27913007G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||2/11|ENST00000634017.1:c.57+1310C>T|||||||rs5762400||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||G|G||||chr22:g.27913007G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||2/10|NM_001284277.2:c.51+1310C>T|||||||rs5762400||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||G|G||||chr22:g.27913007G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||2/11|NM_001284278.2:c.57+1310C>T|||||||rs5762400||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||G|G||||chr22:g.27913007G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||2/11|NM_012399.5:c.51+1310C>T|||||||rs5762400||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||G|G||||chr22:g.27913007G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||2/10|XM_011530052.3:c.57+1310C>T|||||||rs5762400||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||G|G||||chr22:g.27913007G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||2/8|XM_017028707.2:c.57+1310C>T|||||||rs5762400||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||G|G||||chr22:g.27913007G>A|||||||||||||,A|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||2/10|XM_047441269.1:c.51+1310C>T|||||||rs5762400||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||G|G||||chr22:g.27913007G>A|||||||||||||;SpliceAI=A|PITPNB|0.00|0.00|0.00|0.00|-28|-34|2|-3;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000460566,ENST00000471825,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13997;gnomADv4_1_AC_joint_XX=7168;gnomADv4_1_AC_joint_XY=6829;gnomADv4_1_AF_grpmax_joint=0.197761;gnomADv4_1_AF_joint=0.101533;gnomADv4_1_AF_joint_XX=0.101163;gnomADv4_1_AF_joint_XY=0.101925;gnomADv4_1_AN_grpmax_joint=268;gnomADv4_1_AN_joint=137856;gnomADv4_1_AN_joint_XX=70856;gnomADv4_1_AN_joint_XY=67000;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=781;gnomADv4_1_nhomalt_joint_XX=381;gnomADv4_1_nhomalt_joint_XY=400;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27914188 chr22_27914188_T_C T C 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.156;CADD_Rawscore=0.019813;CSQ=C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||2/10|ENST00000320996.14:c.51+129A>G|||||||rs763253787||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||T|T||||chr22:g.27914188T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||2/11|ENST00000335272.10:c.51+129A>G|||||||rs763253787||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||T|T||||chr22:g.27914188T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||2/8|ENST00000415296.5:c.-169+129A>G|||||||rs763253787||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||T|T||||chr22:g.27914188T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||2/7|ENST00000436663.1:c.57+129A>G|||||||rs763253787||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||T|T||||chr22:g.27914188T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||2/4|ENST00000460566.5:n.116+129A>G|||||||rs763253787||-1||HGNC|HGNC:9002|4||||||||Ensembl||T|T||||chr22:g.27914188T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000471825|retained_intron||2/2|ENST00000471825.1:n.104+129A>G|||||||rs763253787||-1||HGNC|HGNC:9002|2||||||||Ensembl||T|T||||chr22:g.27914188T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||2/11|ENST00000634017.1:c.57+129A>G|||||||rs763253787||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||T|T||||chr22:g.27914188T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||2/10|NM_001284277.2:c.51+129A>G|||||||rs763253787||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||T|T||||chr22:g.27914188T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||2/11|NM_001284278.2:c.57+129A>G|||||||rs763253787||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||T|T||||chr22:g.27914188T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||2/11|NM_012399.5:c.51+129A>G|||||||rs763253787||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||T|T||||chr22:g.27914188T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||2/10|XM_011530052.3:c.57+129A>G|||||||rs763253787||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||T|T||||chr22:g.27914188T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||2/8|XM_017028707.2:c.57+129A>G|||||||rs763253787||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||T|T||||chr22:g.27914188T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||2/10|XM_047441269.1:c.51+129A>G|||||||rs763253787||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||T|T||||chr22:g.27914188T>C|||||||||||||;SpliceAI=C|PITPNB|0.00|0.00|0.00|0.00|46|-2|1|18;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000436663,ENST00000460566,ENST00000471825,ENST00000634017,NM_001284277.2,NM_001284278.2,NM_012399.5,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000180957,23760,23760,23760,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=861;gnomADv4_1_AC_joint_XX=410;gnomADv4_1_AC_joint_XY=451;gnomADv4_1_AF_grpmax_joint=0.000321664;gnomADv4_1_AF_joint=0.00129338;gnomADv4_1_AF_joint_XX=0.00131582;gnomADv4_1_AF_joint_XY=0.00127363;gnomADv4_1_AN_grpmax_joint=366842;gnomADv4_1_AN_joint=665698;gnomADv4_1_AN_joint_XX=311592;gnomADv4_1_AN_joint_XY=354106;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13;gnomADv4_1_nhomalt_joint_XX=7;gnomADv4_1_nhomalt_joint_XY=6;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27916211 chr22_27916211_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.012;CADD_Rawscore=0.16556;CSQ=C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||1/10|ENST00000320996.14:c.21-1864A>G|||||||rs149296936||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||1/11|ENST00000335272.10:c.21-1864A>G|||||||rs149296936||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||1/8|ENST00000415296.5:c.-199-1864A>G|||||||rs149296936||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417381|lncRNA||||||||||rs149296936|3226|1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||||||||||rs149296936|3177|1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||||||||||rs149296936|3190|1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||||||||||rs149296936|3181|1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||||||||||rs149296936|3218|1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428818|lncRNA||||||||||rs149296936|3226|1||HGNC|HGNC:29336|5||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428858|retained_intron||||||||||rs149296936|3261|1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||||||||||rs149296936|3165|1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||||||||||rs149296936|3177|1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||||||||||rs149296936|3246|1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||1/7|ENST00000436663.1:c.27-1864A>G|||||||rs149296936||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000436996|retained_intron||||||||||rs149296936|3226|1||HGNC|HGNC:29336|2||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000437713|lncRNA||||||||||rs149296936|3177|1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||||||||||rs149296936|3280|1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||||||||||rs149296936|3212|1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||||||||||rs149296936|3210|1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||||||||||rs149296936|3176|1||HGNC|HGNC:29336|2||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||1/4|ENST00000460566.5:n.86-1864A>G|||||||rs149296936||-1||HGNC|HGNC:9002|4||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000471825|retained_intron||1/2|ENST00000471825.1:n.74-1864A>G|||||||rs149296936||-1||HGNC|HGNC:9002|2||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|MIR3199-1|ENSG00000264073|Transcript|ENST00000582434|miRNA||||||||||rs149296936|4314|-1||HGNC|HGNC:38294|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000277460|Transcript|ENST00000614690|misc_RNA||||||||||rs149296936|3173|1||||||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||1/11|ENST00000634017.1:c.27-1864A>G|||||||rs149296936||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|MIR3199-2|ENSG00000283225|Transcript|ENST00000636243|miRNA||||||||||rs149296936|4315|1||HGNC|HGNC:38205|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||||||||||rs149296936|3259|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||||||||||rs149296936|3222|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||||||||||rs149296936|3212|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662329|lncRNA||||||||||rs149296936|3092|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||||||||||rs149296936|3267|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||||||||||rs149296936|3218|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||||||||||rs149296936|3255|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||||||||||rs149296936|3212|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||||||||||rs149296936|3227|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||||||||||rs149296936|3273|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670585|lncRNA||||||||||rs149296936|3257|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670661|lncRNA||||||||||rs149296936|3218|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||||||||||rs149296936|3225|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000690710|lncRNA||||||||||rs149296936|3197|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||||||||||rs149296936|3215|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||||||||||rs149296936|3259|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||||||||||rs149296936|3257|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||||||||||rs149296936|3287|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||||||||||rs149296936|3226|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||||||||||rs149296936|3255|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||||||||||rs149296936|3222|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||||||||||rs149296936|3222|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||||||||||rs149296936|3255|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||||||||||rs149296936|3288|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||||||||||rs149296936|3255|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||||||||||rs149296936|3238|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||||||||||rs149296936|3199|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||||||||||rs149296936|3289|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723571|lncRNA||||||||||rs149296936|3197|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723572|lncRNA||||||||||rs149296936|3226|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723573|lncRNA||||||||||rs149296936|3225|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723574|lncRNA||||||||||rs149296936|3267|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27916211T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||1/10|NM_001284277.2:c.21-1864A>G|||||||rs149296936||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||T|T||||chr22:g.27916211T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||1/11|NM_001284278.2:c.27-1864A>G|||||||rs149296936||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||T|T||||chr22:g.27916211T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||1/11|NM_012399.5:c.21-1864A>G|||||||rs149296936||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026962.1|lncRNA||||||||||rs149296936|3165|1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK|||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||||||||||rs149296936|3165|1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK|||chr22:g.27916211T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|MIR3199-1|100423034|Transcript|NR_036169.1|miRNA||||||||||rs149296936|4314|-1||EntrezGene|HGNC:38294|||||||||RefSeq||T|T||||chr22:g.27916211T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|MIR3199-2|100422998|Transcript|NR_036170.1|miRNA||||||||||rs149296936|4315|1||EntrezGene|HGNC:38205|||||||||RefSeq||T|T||||chr22:g.27916211T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||1/10|XM_011530052.3:c.27-1864A>G|||||||rs149296936||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||T|T||||chr22:g.27916211T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||1/8|XM_017028707.2:c.27-1864A>G|||||||rs149296936||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||T|T||||chr22:g.27916211T>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||1/10|XM_047441269.1:c.21-1864A>G|||||||rs149296936||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||T|T||||chr22:g.27916211T>C|||||||||||||;SpliceAI=C|PITPNB|0.00|0.00|0.00|0.00|-1|-25|1|-25;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000417381,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000428818,ENST00000428858,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000436663,ENST00000436996,ENST00000437713,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000460566,ENST00000471825,ENST00000582434,ENST00000614690,ENST00000634017,ENST00000636243,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662329,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000670585,ENST00000670661,ENST00000688200,ENST00000690710,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723571,ENST00000723572,ENST00000723573,ENST00000723574,NM_001284277.2,NM_001284278.2,NM_012399.5,NR_026962.1,NR_026963.1,NR_036169.1,NR_036170.1,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000180957,ENSG00000264073,ENSG00000277460,ENSG00000180957,ENSG00000283225,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23760,23760,23760,284900,284900,100423034,100422998,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,PITPNB,MIR3199-1,.,PITPNB,MIR3199-2,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,MIR3199-1,MIR3199-2,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=845;gnomADv4_1_AC_joint_XX=448;gnomADv4_1_AC_joint_XY=397;gnomADv4_1_AF_grpmax_joint=0.00868658;gnomADv4_1_AF_joint=0.00554578;gnomADv4_1_AF_joint_XX=0.00575362;gnomADv4_1_AF_joint_XY=0.00532857;gnomADv4_1_AN_grpmax_joint=68036;gnomADv4_1_AN_joint=152368;gnomADv4_1_AN_joint_XX=77864;gnomADv4_1_AN_joint_XY=74504;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8;gnomADv4_1_nhomalt_joint_XX=4;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27916569 chr22_27916569_A_T A T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.37;CADD_Rawscore=0.064365;CSQ=T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||1/10|ENST00000320996.14:c.21-2222T>A|||||||rs5762403||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||1/11|ENST00000335272.10:c.21-2222T>A|||||||rs5762403||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||1/8|ENST00000415296.5:c.-199-2222T>A|||||||rs5762403||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417381|lncRNA||||||||||rs5762403|2868|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||||||||||rs5762403|2819|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||||||||||rs5762403|2832|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||||||||||rs5762403|2823|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||||||||||rs5762403|2860|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428818|lncRNA||||||||||rs5762403|2868|1||HGNC|HGNC:29336|5||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428858|retained_intron||||||||||rs5762403|2903|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||||||||||rs5762403|2807|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||||||||||rs5762403|2819|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||||||||||rs5762403|2888|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||1/7|ENST00000436663.1:c.27-2222T>A|||||||rs5762403||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000436996|retained_intron||||||||||rs5762403|2868|1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000437713|lncRNA||||||||||rs5762403|2819|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||||||||||rs5762403|2922|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||||||||||rs5762403|2854|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||||||||||rs5762403|2852|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||||||||||rs5762403|2818|1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||1/4|ENST00000460566.5:n.86-2222T>A|||||||rs5762403||-1||HGNC|HGNC:9002|4||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000471825|retained_intron||1/2|ENST00000471825.1:n.74-2222T>A|||||||rs5762403||-1||HGNC|HGNC:9002|2||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|MIR3199-1|ENSG00000264073|Transcript|ENST00000582434|miRNA||||||||||rs5762403|3956|-1||HGNC|HGNC:38294|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000277460|Transcript|ENST00000614690|misc_RNA||||||||||rs5762403|2815|1||||||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||1/11|ENST00000634017.1:c.27-2222T>A|||||||rs5762403||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MIR3199-2|ENSG00000283225|Transcript|ENST00000636243|miRNA||||||||||rs5762403|3957|1||HGNC|HGNC:38205|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||||||||||rs5762403|2901|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||||||||||rs5762403|2864|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||||||||||rs5762403|2854|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662329|lncRNA||||||||||rs5762403|2734|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||||||||||rs5762403|2909|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||||||||||rs5762403|2860|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||||||||||rs5762403|2897|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||||||||||rs5762403|2854|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||||||||||rs5762403|2869|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||||||||||rs5762403|2915|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670585|lncRNA||||||||||rs5762403|2899|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670661|lncRNA||||||||||rs5762403|2860|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||||||||||rs5762403|2867|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000690710|lncRNA||||||||||rs5762403|2839|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||||||||||rs5762403|2857|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||||||||||rs5762403|2901|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||||||||||rs5762403|2899|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||||||||||rs5762403|2929|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||||||||||rs5762403|2868|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||||||||||rs5762403|2897|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||||||||||rs5762403|2864|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||||||||||rs5762403|2864|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||||||||||rs5762403|2897|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||||||||||rs5762403|2930|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||||||||||rs5762403|2897|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||||||||||rs5762403|2880|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||||||||||rs5762403|2841|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||||||||||rs5762403|2931|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723571|lncRNA||||||||||rs5762403|2839|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723572|lncRNA||||||||||rs5762403|2868|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723573|lncRNA||||||||||rs5762403|2867|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723574|lncRNA||||||||||rs5762403|2909|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27916569A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||1/10|NM_001284277.2:c.21-2222T>A|||||||rs5762403||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||A|A||||chr22:g.27916569A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||1/11|NM_001284278.2:c.27-2222T>A|||||||rs5762403||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||A|A||||chr22:g.27916569A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||1/11|NM_012399.5:c.21-2222T>A|||||||rs5762403||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026962.1|lncRNA||||||||||rs5762403|2807|1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||||||||||rs5762403|2807|1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27916569A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|MIR3199-1|100423034|Transcript|NR_036169.1|miRNA||||||||||rs5762403|3956|-1||EntrezGene|HGNC:38294|||||||||RefSeq||A|A||||chr22:g.27916569A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MIR3199-2|100422998|Transcript|NR_036170.1|miRNA||||||||||rs5762403|3957|1||EntrezGene|HGNC:38205|||||||||RefSeq||A|A||||chr22:g.27916569A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||1/10|XM_011530052.3:c.27-2222T>A|||||||rs5762403||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||A|A||||chr22:g.27916569A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||1/8|XM_017028707.2:c.27-2222T>A|||||||rs5762403||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||A|A||||chr22:g.27916569A>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||1/10|XM_047441269.1:c.20+1806T>A|||||||rs5762403||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||A|A||||chr22:g.27916569A>T|||||||||||||;SpliceAI=T|PITPNB|0.00|0.00|0.00|0.00|-17|13|-17|39;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000417381,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000428818,ENST00000428858,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000436663,ENST00000436996,ENST00000437713,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000460566,ENST00000471825,ENST00000582434,ENST00000614690,ENST00000634017,ENST00000636243,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662329,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000670585,ENST00000670661,ENST00000688200,ENST00000690710,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723571,ENST00000723572,ENST00000723573,ENST00000723574,NM_001284277.2,NM_001284278.2,NM_012399.5,NR_026962.1,NR_026963.1,NR_036169.1,NR_036170.1,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000180957,ENSG00000264073,ENSG00000277460,ENSG00000180957,ENSG00000283225,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23760,23760,23760,284900,284900,100423034,100422998,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,PITPNB,MIR3199-1,.,PITPNB,MIR3199-2,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,MIR3199-1,MIR3199-2,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31905;gnomADv4_1_AC_joint_XX=16180;gnomADv4_1_AC_joint_XY=15725;gnomADv4_1_AF_grpmax_joint=0.307069;gnomADv4_1_AF_joint=0.209777;gnomADv4_1_AF_joint_XX=0.208183;gnomADv4_1_AF_joint_XY=0.211443;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=152090;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3449;gnomADv4_1_nhomalt_joint_XX=1711;gnomADv4_1_nhomalt_joint_XY=1738;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27917595 chr22_27917595_A_C A C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=3.748;CADD_Rawscore=0.342834;CSQ=C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||1/10|ENST00000320996.14:c.20+1577T>G|||||||rs720621||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||1/11|ENST00000335272.10:c.20+1577T>G|||||||rs720621||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||1/8|ENST00000415296.5:c.-200+2216T>G|||||||rs720621||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417381|lncRNA||||||||||rs720621|1842|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||||||||||rs720621|1793|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||||||||||rs720621|1806|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||||||||||rs720621|1797|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||||||||||rs720621|1834|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428818|lncRNA||||||||||rs720621|1842|1||HGNC|HGNC:29336|5||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428858|retained_intron||||||||||rs720621|1877|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||||||||||rs720621|1781|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||||||||||rs720621|1793|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||||||||||rs720621|1862|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||1/7|ENST00000436663.1:c.26+1507T>G|||||||rs720621||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000436996|retained_intron||||||||||rs720621|1842|1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000437713|lncRNA||||||||||rs720621|1793|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||||||||||rs720621|1896|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||||||||||rs720621|1828|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||||||||||rs720621|1826|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||||||||||rs720621|1792|1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||1/4|ENST00000460566.5:n.85+1577T>G|||||||rs720621||-1||HGNC|HGNC:9002|4||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000471825|retained_intron||1/2|ENST00000471825.1:n.73+1577T>G|||||||rs720621||-1||HGNC|HGNC:9002|2||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|MIR3199-1|ENSG00000264073|Transcript|ENST00000582434|miRNA||||||||||rs720621|2930|-1||HGNC|HGNC:38294|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000276150|Transcript|ENST00000611117|misc_RNA||||||||||rs720621|4427|1||||||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000277460|Transcript|ENST00000614690|misc_RNA||||||||||rs720621|1789|1||||||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||1/11|ENST00000634017.1:c.26+1507T>G|||||||rs720621||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|MIR3199-2|ENSG00000283225|Transcript|ENST00000636243|miRNA||||||||||rs720621|2931|1||HGNC|HGNC:38205|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||||||||||rs720621|1875|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||||||||||rs720621|1838|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||||||||||rs720621|1828|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662329|lncRNA||||||||||rs720621|1708|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||||||||||rs720621|1883|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||||||||||rs720621|1834|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||||||||||rs720621|1871|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||||||||||rs720621|1828|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||||||||||rs720621|1843|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||||||||||rs720621|1889|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670585|lncRNA||||||||||rs720621|1873|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670661|lncRNA||||||||||rs720621|1834|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||||||||||rs720621|1841|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000690710|lncRNA||||||||||rs720621|1813|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||||||||||rs720621|1831|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||||||||||rs720621|1875|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||||||||||rs720621|1873|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||||||||||rs720621|1903|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||||||||||rs720621|1842|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||||||||||rs720621|1871|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||||||||||rs720621|1838|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||||||||||rs720621|1838|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||||||||||rs720621|1871|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||||||||||rs720621|1904|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||||||||||rs720621|1871|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||||||||||rs720621|1854|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||||||||||rs720621|1815|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||||||||||rs720621|1905|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723571|lncRNA||||||||||rs720621|1813|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723572|lncRNA||||||||||rs720621|1842|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723573|lncRNA||||||||||rs720621|1841|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723574|lncRNA||||||||||rs720621|1883|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27917595A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||1/10|NM_001284277.2:c.20+1577T>G|||||||rs720621||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||A|A||||chr22:g.27917595A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||1/11|NM_001284278.2:c.26+1507T>G|||||||rs720621||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||A|A||||chr22:g.27917595A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||1/11|NM_012399.5:c.20+1577T>G|||||||rs720621||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026962.1|lncRNA||||||||||rs720621|1781|1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||||||||||rs720621|1781|1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27917595A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|MIR3199-1|100423034|Transcript|NR_036169.1|miRNA||||||||||rs720621|2930|-1||EntrezGene|HGNC:38294|||||||||RefSeq||A|A||||chr22:g.27917595A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|MIR3199-2|100422998|Transcript|NR_036170.1|miRNA||||||||||rs720621|2931|1||EntrezGene|HGNC:38205|||||||||RefSeq||A|A||||chr22:g.27917595A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||1/10|XM_011530052.3:c.26+1507T>G|||||||rs720621||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||A|A||||chr22:g.27917595A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||1/8|XM_017028707.2:c.26+1507T>G|||||||rs720621||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||A|A||||chr22:g.27917595A>C|||||||||||||,C|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||1/10|XM_047441269.1:c.20+780T>G|||||||rs720621||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||A|A||||chr22:g.27917595A>C|||||||||||||;SpliceAI=C|PITPNB|0.00|0.00|0.00|0.00|35|-8|41|-3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000417381,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000428818,ENST00000428858,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000436663,ENST00000436996,ENST00000437713,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000460566,ENST00000471825,ENST00000582434,ENST00000611117,ENST00000614690,ENST00000634017,ENST00000636243,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662329,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000670585,ENST00000670661,ENST00000688200,ENST00000690710,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723571,ENST00000723572,ENST00000723573,ENST00000723574,NM_001284277.2,NM_001284278.2,NM_012399.5,NR_026962.1,NR_026963.1,NR_036169.1,NR_036170.1,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000180957,ENSG00000264073,ENSG00000276150,ENSG00000277460,ENSG00000180957,ENSG00000283225,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23760,23760,23760,284900,284900,100423034,100422998,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,PITPNB,MIR3199-1,.,.,PITPNB,MIR3199-2,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,MIR3199-1,MIR3199-2,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80437;gnomADv4_1_AC_joint_XX=40530;gnomADv4_1_AC_joint_XY=39907;gnomADv4_1_AF_grpmax_joint=0.657231;gnomADv4_1_AF_joint=0.529017;gnomADv4_1_AF_joint_XX=0.521635;gnomADv4_1_AF_joint_XY=0.536731;gnomADv4_1_AN_grpmax_joint=41474;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22211;gnomADv4_1_nhomalt_joint_XX=11000;gnomADv4_1_nhomalt_joint_XY=11211;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27918000 chr22_27918000_A_G A G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=4.891;CADD_Rawscore=0.445697;CSQ=G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||1/10|ENST00000320996.14:c.20+1172T>C|||||||rs2345019||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||1/11|ENST00000335272.10:c.20+1172T>C|||||||rs2345019||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||1/8|ENST00000415296.5:c.-200+1811T>C|||||||rs2345019||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417381|lncRNA||||||||||rs2345019|1437|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||||||||||rs2345019|1388|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||||||||||rs2345019|1401|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||||||||||rs2345019|1392|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||||||||||rs2345019|1429|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428818|lncRNA||||||||||rs2345019|1437|1||HGNC|HGNC:29336|5||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428858|retained_intron||||||||||rs2345019|1472|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||||||||||rs2345019|1376|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||||||||||rs2345019|1388|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||||||||||rs2345019|1457|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||1/7|ENST00000436663.1:c.26+1102T>C|||||||rs2345019||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000436996|retained_intron||||||||||rs2345019|1437|1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000437713|lncRNA||||||||||rs2345019|1388|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||||||||||rs2345019|1491|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||||||||||rs2345019|1423|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||||||||||rs2345019|1421|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||||||||||rs2345019|1387|1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||1/4|ENST00000460566.5:n.85+1172T>C|||||||rs2345019||-1||HGNC|HGNC:9002|4||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000471825|retained_intron||1/2|ENST00000471825.1:n.73+1172T>C|||||||rs2345019||-1||HGNC|HGNC:9002|2||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MIR3199-1|ENSG00000264073|Transcript|ENST00000582434|miRNA||||||||||rs2345019|2525|-1||HGNC|HGNC:38294|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000276150|Transcript|ENST00000611117|misc_RNA||||||||||rs2345019|4022|1||||||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000277460|Transcript|ENST00000614690|misc_RNA||||||||||rs2345019|1384|1||||||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||1/11|ENST00000634017.1:c.26+1102T>C|||||||rs2345019||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|MIR3199-2|ENSG00000283225|Transcript|ENST00000636243|miRNA||||||||||rs2345019|2526|1||HGNC|HGNC:38205|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||||||||||rs2345019|1470|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||||||||||rs2345019|1433|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||||||||||rs2345019|1423|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662329|lncRNA||||||||||rs2345019|1303|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||||||||||rs2345019|1478|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||||||||||rs2345019|1429|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||||||||||rs2345019|1466|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||||||||||rs2345019|1423|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||||||||||rs2345019|1438|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||||||||||rs2345019|1484|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670585|lncRNA||||||||||rs2345019|1468|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670661|lncRNA||||||||||rs2345019|1429|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||||||||||rs2345019|1436|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000690710|lncRNA||||||||||rs2345019|1408|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||||||||||rs2345019|1426|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||||||||||rs2345019|1470|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||||||||||rs2345019|1468|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||||||||||rs2345019|1498|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||||||||||rs2345019|1437|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||||||||||rs2345019|1466|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||||||||||rs2345019|1433|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||||||||||rs2345019|1433|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||||||||||rs2345019|1466|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||||||||||rs2345019|1499|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||||||||||rs2345019|1466|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||||||||||rs2345019|1449|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||||||||||rs2345019|1410|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||||||||||rs2345019|1500|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723571|lncRNA||||||||||rs2345019|1408|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723572|lncRNA||||||||||rs2345019|1437|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723573|lncRNA||||||||||rs2345019|1436|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723574|lncRNA||||||||||rs2345019|1478|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27918000A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||1/10|NM_001284277.2:c.20+1172T>C|||||||rs2345019||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||A|A||||chr22:g.27918000A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||1/11|NM_001284278.2:c.26+1102T>C|||||||rs2345019||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||A|A||||chr22:g.27918000A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||1/11|NM_012399.5:c.20+1172T>C|||||||rs2345019||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026962.1|lncRNA||||||||||rs2345019|1376|1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||||||||||rs2345019|1376|1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27918000A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MIR3199-1|100423034|Transcript|NR_036169.1|miRNA||||||||||rs2345019|2525|-1||EntrezGene|HGNC:38294|||||||||RefSeq||A|A||||chr22:g.27918000A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|MIR3199-2|100422998|Transcript|NR_036170.1|miRNA||||||||||rs2345019|2526|1||EntrezGene|HGNC:38205|||||||||RefSeq||A|A||||chr22:g.27918000A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||1/10|XM_011530052.3:c.26+1102T>C|||||||rs2345019||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||A|A||||chr22:g.27918000A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||1/8|XM_017028707.2:c.26+1102T>C|||||||rs2345019||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||A|A||||chr22:g.27918000A>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||1/10|XM_047441269.1:c.20+375T>C|||||||rs2345019||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||A|A||||chr22:g.27918000A>G|||||||||||||;SpliceAI=G|PITPNB|0.00|0.00|0.00|0.00|24|28|24|28;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000417381,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000428818,ENST00000428858,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000436663,ENST00000436996,ENST00000437713,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000460566,ENST00000471825,ENST00000582434,ENST00000611117,ENST00000614690,ENST00000634017,ENST00000636243,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662329,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000670585,ENST00000670661,ENST00000688200,ENST00000690710,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723571,ENST00000723572,ENST00000723573,ENST00000723574,NM_001284277.2,NM_001284278.2,NM_012399.5,NR_026962.1,NR_026963.1,NR_036169.1,NR_036170.1,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000180957,ENSG00000264073,ENSG00000276150,ENSG00000277460,ENSG00000180957,ENSG00000283225,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23760,23760,23760,284900,284900,100423034,100422998,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,PITPNB,MIR3199-1,.,.,PITPNB,MIR3199-2,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,MIR3199-1,MIR3199-2,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15352;gnomADv4_1_AC_joint_XX=7778;gnomADv4_1_AC_joint_XY=7574;gnomADv4_1_AF_grpmax_joint=0.20068;gnomADv4_1_AF_joint=0.100842;gnomADv4_1_AF_joint_XX=0.0999537;gnomADv4_1_AF_joint_XY=0.101771;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=833;gnomADv4_1_nhomalt_joint_XX=410;gnomADv4_1_nhomalt_joint_XY=423;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27918342 chr22_27918342_C_G C G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=6.094;CADD_Rawscore=0.562698;CSQ=G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||1/10|ENST00000320996.14:c.20+830G>C|||||||rs5762404||-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||1/11|ENST00000335272.10:c.20+830G>C|||||||rs5762404||-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||1/8|ENST00000415296.5:c.-200+1469G>C|||||||rs5762404||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417381|lncRNA||||||||||rs5762404|1095|1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||||||||||rs5762404|1046|1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||||||||||rs5762404|1059|1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||||||||||rs5762404|1050|1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||||||||||rs5762404|1087|1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428818|lncRNA||||||||||rs5762404|1095|1||HGNC|HGNC:29336|5||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428858|retained_intron||||||||||rs5762404|1130|1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||||||||||rs5762404|1034|1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||||||||||rs5762404|1046|1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||||||||||rs5762404|1115|1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||1/7|ENST00000436663.1:c.26+760G>C|||||||rs5762404||-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000436996|retained_intron||||||||||rs5762404|1095|1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000437713|lncRNA||||||||||rs5762404|1046|1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||||||||||rs5762404|1149|1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||||||||||rs5762404|1081|1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||||||||||rs5762404|1079|1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||||||||||rs5762404|1045|1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||1/4|ENST00000460566.5:n.85+830G>C|||||||rs5762404||-1||HGNC|HGNC:9002|4||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000471825|retained_intron||1/2|ENST00000471825.1:n.73+830G>C|||||||rs5762404||-1||HGNC|HGNC:9002|2||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MIR3199-1|ENSG00000264073|Transcript|ENST00000582434|miRNA||||||||||rs5762404|2183|-1||HGNC|HGNC:38294|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000276150|Transcript|ENST00000611117|misc_RNA||||||||||rs5762404|3680|1||||||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000277460|Transcript|ENST00000614690|misc_RNA||||||||||rs5762404|1042|1||||||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||1/11|ENST00000634017.1:c.26+760G>C|||||||rs5762404||-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|MIR3199-2|ENSG00000283225|Transcript|ENST00000636243|miRNA||||||||||rs5762404|2184|1||HGNC|HGNC:38205|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||||||||||rs5762404|1128|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||||||||||rs5762404|1091|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||||||||||rs5762404|1081|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662329|lncRNA||||||||||rs5762404|961|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||||||||||rs5762404|1136|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||||||||||rs5762404|1087|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||||||||||rs5762404|1124|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||||||||||rs5762404|1081|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||||||||||rs5762404|1096|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||||||||||rs5762404|1142|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670585|lncRNA||||||||||rs5762404|1126|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670661|lncRNA||||||||||rs5762404|1087|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||||||||||rs5762404|1094|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000690710|lncRNA||||||||||rs5762404|1066|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||||||||||rs5762404|1084|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||||||||||rs5762404|1128|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||||||||||rs5762404|1126|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||||||||||rs5762404|1156|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||||||||||rs5762404|1095|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||||||||||rs5762404|1124|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||||||||||rs5762404|1091|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||||||||||rs5762404|1091|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||||||||||rs5762404|1124|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||||||||||rs5762404|1157|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||||||||||rs5762404|1124|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||||||||||rs5762404|1107|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||||||||||rs5762404|1068|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||||||||||rs5762404|1158|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723571|lncRNA||||||||||rs5762404|1066|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723572|lncRNA||||||||||rs5762404|1095|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723573|lncRNA||||||||||rs5762404|1094|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723574|lncRNA||||||||||rs5762404|1136|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27918342C>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||1/10|NM_001284277.2:c.20+830G>C|||||||rs5762404||-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||C|C||||chr22:g.27918342C>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||1/11|NM_001284278.2:c.26+760G>C|||||||rs5762404||-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||C|C||||chr22:g.27918342C>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||1/11|NM_012399.5:c.20+830G>C|||||||rs5762404||-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026962.1|lncRNA||||||||||rs5762404|1034|1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||||||||||rs5762404|1034|1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27918342C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MIR3199-1|100423034|Transcript|NR_036169.1|miRNA||||||||||rs5762404|2183|-1||EntrezGene|HGNC:38294|||||||||RefSeq||C|C||||chr22:g.27918342C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|MIR3199-2|100422998|Transcript|NR_036170.1|miRNA||||||||||rs5762404|2184|1||EntrezGene|HGNC:38205|||||||||RefSeq||C|C||||chr22:g.27918342C>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||1/10|XM_011530052.3:c.26+760G>C|||||||rs5762404||-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||C|C||||chr22:g.27918342C>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||1/8|XM_017028707.2:c.26+760G>C|||||||rs5762404||-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||C|C||||chr22:g.27918342C>G|||||||||||||,G|intron_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||1/10|XM_047441269.1:c.20+33G>C|||||||rs5762404||-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||C|C||||chr22:g.27918342C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4QRK|enhancer||||||||||rs5762404|||||||||||||||||||||chr22:g.27918342C>G|||||||||||||;SpliceAI=G|PITPNB|0.00|0.00|0.16|0.00|35|-21|-3|33;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000417381,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000428818,ENST00000428858,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000436663,ENST00000436996,ENST00000437713,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000460566,ENST00000471825,ENST00000582434,ENST00000611117,ENST00000614690,ENST00000634017,ENST00000636243,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662329,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000670585,ENST00000670661,ENST00000688200,ENST00000690710,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723571,ENST00000723572,ENST00000723573,ENST00000723574,NM_001284277.2,NM_001284278.2,NM_012399.5,NR_026962.1,NR_026963.1,NR_036169.1,NR_036170.1,XM_011530052.3,XM_017028707.2,XM_047441269.1,ENSR22_C4QRK;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000180957,ENSG00000264073,ENSG00000276150,ENSG00000277460,ENSG00000180957,ENSG00000283225,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23760,23760,23760,284900,284900,100423034,100422998,23760,23760,23760,.;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,PITPNB,MIR3199-1,.,.,PITPNB,MIR3199-2,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,MIR3199-1,MIR3199-2,PITPNB,PITPNB,PITPNB,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10147;gnomADv4_1_AC_joint_XX=5231;gnomADv4_1_AC_joint_XY=4916;gnomADv4_1_AF_grpmax_joint=0.163265;gnomADv4_1_AF_joint=0.066661;gnomADv4_1_AF_joint_XX=0.0672469;gnomADv4_1_AF_joint_XY=0.0660486;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152218;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=475;gnomADv4_1_nhomalt_joint_XX=251;gnomADv4_1_nhomalt_joint_XY=224;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27919280 chr22_27919280_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=14.55;CADD_Rawscore=1.56264;CSQ=T|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||||||||||rs28372773|25|-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||||||||||rs28372773|24|-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|intron_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||1/8|ENST00000415296.5:c.-200+531G>A|||||||rs28372773||-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417381|lncRNA||||||||||rs28372773|157|1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||||||||||rs28372773|108|1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||||||||||rs28372773|121|1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||||||||||rs28372773|112|1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||||||||||rs28372773|149|1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428818|lncRNA||||||||||rs28372773|157|1||HGNC|HGNC:29336|5||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428858|retained_intron||||||||||rs28372773|192|1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||||||||||rs28372773|96|1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||||||||||rs28372773|108|1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||||||||||rs28372773|177|1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||||||||||rs28372773|66|-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000436996|retained_intron||||||||||rs28372773|157|1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000437713|lncRNA||||||||||rs28372773|108|1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||||||||||rs28372773|211|1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||||||||||rs28372773|143|1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||||||||||rs28372773|141|1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||||||||||rs28372773|107|1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||||||||||rs28372773|24|-1||HGNC|HGNC:9002|4||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000471825|retained_intron||||||||||rs28372773|36|-1||HGNC|HGNC:9002|2||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|MIR3199-1|ENSG00000264073|Transcript|ENST00000582434|miRNA||||||||||rs28372773|1245|-1||HGNC|HGNC:38294|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000276150|Transcript|ENST00000611117|misc_RNA||||||||||rs28372773|2742|1||||||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000277460|Transcript|ENST00000614690|misc_RNA||||||||||rs28372773|104|1||||||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||||||||||rs28372773|81|-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MIR3199-2|ENSG00000283225|Transcript|ENST00000636243|miRNA||||||||||rs28372773|1246|1||HGNC|HGNC:38205|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||||||||||rs28372773|190|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||||||||||rs28372773|153|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||||||||||rs28372773|143|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662329|lncRNA||||||||||rs28372773|23|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||||||||||rs28372773|198|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||||||||||rs28372773|149|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||||||||||rs28372773|186|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||||||||||rs28372773|143|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||||||||||rs28372773|158|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||||||||||rs28372773|204|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670585|lncRNA||||||||||rs28372773|188|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670661|lncRNA||||||||||rs28372773|149|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||||||||||rs28372773|156|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000690710|lncRNA||||||||||rs28372773|128|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||||||||||rs28372773|146|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||||||||||rs28372773|190|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||||||||||rs28372773|188|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||||||||||rs28372773|218|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||||||||||rs28372773|157|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||||||||||rs28372773|186|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||||||||||rs28372773|153|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||||||||||rs28372773|153|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||||||||||rs28372773|186|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||||||||||rs28372773|219|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||||||||||rs28372773|186|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||||||||||rs28372773|169|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||||||||||rs28372773|130|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||||||||||rs28372773|220|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723571|lncRNA||||||||||rs28372773|128|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723572|lncRNA||||||||||rs28372773|157|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723573|lncRNA||||||||||rs28372773|156|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723574|lncRNA||||||||||rs28372773|198|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||||||||||rs28372773|24|-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||||||||||rs28372773|24|-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||||||||||rs28372773|24|-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026962.1|lncRNA||||||||||rs28372773|96|1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||||||||||rs28372773|96|1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27919280C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|MIR3199-1|100423034|Transcript|NR_036169.1|miRNA||||||||||rs28372773|1245|-1||EntrezGene|HGNC:38294|||||||||RefSeq||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MIR3199-2|100422998|Transcript|NR_036170.1|miRNA||||||||||rs28372773|1246|1||EntrezGene|HGNC:38205|||||||||RefSeq||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||||||||||rs28372773|24|-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||||||||||rs28372773|24|-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||C|C||||chr22:g.27919280C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||||||||||rs28372773|871|-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||C|C||||chr22:g.27919280C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F47H|promoter||||||||||rs28372773|||||||||||||||||||||chr22:g.27919280C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000417381,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000428818,ENST00000428858,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000436663,ENST00000436996,ENST00000437713,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000460566,ENST00000471825,ENST00000582434,ENST00000611117,ENST00000614690,ENST00000634017,ENST00000636243,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662329,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000670585,ENST00000670661,ENST00000688200,ENST00000690710,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723571,ENST00000723572,ENST00000723573,ENST00000723574,NM_001284277.2,NM_001284278.2,NM_012399.5,NR_026962.1,NR_026963.1,NR_036169.1,NR_036170.1,XM_011530052.3,XM_017028707.2,XM_047441269.1,ENSR22_9F47H;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000180957,ENSG00000264073,ENSG00000276150,ENSG00000277460,ENSG00000180957,ENSG00000283225,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23760,23760,23760,284900,284900,100423034,100422998,23760,23760,23760,.;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,PITPNB,MIR3199-1,.,.,PITPNB,MIR3199-2,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,MIR3199-1,MIR3199-2,PITPNB,PITPNB,PITPNB,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=142091;gnomADv4_1_AC_joint_XX=67916;gnomADv4_1_AC_joint_XY=74175;gnomADv4_1_AF_grpmax_joint=0.235016;gnomADv4_1_AF_joint=0.114155;gnomADv4_1_AF_joint_XX=0.111137;gnomADv4_1_AF_joint_XY=0.117066;gnomADv4_1_AN_grpmax_joint=4872;gnomADv4_1_AN_joint=1244718;gnomADv4_1_AN_joint_XX=611100;gnomADv4_1_AN_joint_XY=633618;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8891;gnomADv4_1_nhomalt_joint_XX=4156;gnomADv4_1_nhomalt_joint_XY=4735;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27920603 chr22_27920603_T_TG T TG 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=4.336;CADDIndel_Rawscore=0.395182;CSQ=G|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||||||||||rs75321888|1348|-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl|||||||chr22:g.27920605dup|||1||||||||||,G|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||||||||||rs75321888|1347|-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl|||||||chr22:g.27920605dup|||1||||||||||,G|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||||||||||rs75321888|469|-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl|||||||chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417381|lncRNA||1/1|ENST00000417381.7:n.530+639dup|||||||rs75321888||1||HGNC|HGNC:29336|4||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||1/3|ENST00000417497.6:n.158+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|3||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|1||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|4||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||1/3|ENST00000425112.3:n.117+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|3||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428818|lncRNA||1/1|ENST00000428818.6:n.109+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|5||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428858|retained_intron||1/2|ENST00000428858.2:n.495+639dup|||||||rs75321888||1||HGNC|HGNC:29336|4||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||1/3|ENST00000430853.5:n.170+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|4||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|3||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||1/6|ENST00000435348.6:n.89+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|4||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||||||||||rs75321888|1389|-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl|||||||chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000436996|retained_intron||1/1|ENST00000436996.1:n.109+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|2||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000437713|lncRNA||1/2|ENST00000437713.8:n.158+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|1||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||1/4|ENST00000452612.5:n.55+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|3||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||1/3|ENST00000453632.6:n.123+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|4||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||1/4|ENST00000454741.5:n.125+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|1||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||1/2|ENST00000454996.9:n.159+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|2||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||||||||||rs75321888|1347|-1||HGNC|HGNC:9002|4||||||||Ensembl|||||||chr22:g.27920605dup|||1||||||||||,G|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000471825|retained_intron||||||||||rs75321888|1359|-1||HGNC|HGNC:9002|2||||||||Ensembl|||||||chr22:g.27920605dup|||1||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|MIR3199-1|ENSG00000264073|Transcript|ENST00000582434|miRNA|1/1||ENST00000582434.1:n.9dup||9-10|||||rs75321888||-1||HGNC|HGNC:38294|||||||||Ensembl|||||||chr22:g.27920605dup|||1||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000276150|Transcript|ENST00000611117|misc_RNA||||||||||rs75321888|1418|1||||||||||||Ensembl|||||||chr22:g.27920605dup|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000277460|Transcript|ENST00000614690|misc_RNA||||||||||rs75321888|1058|1||||||||||||Ensembl|||||||chr22:g.27920605dup|||1||||||||||,G|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||||||||||rs75321888|1404|-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl|||||||chr22:g.27920605dup|||1||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|MIR3199-2|ENSG00000283225|Transcript|ENST00000636243|miRNA|1/1||ENST00000636243.1:n.80dup||78-79|||||rs75321888||1||HGNC|HGNC:38205|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||1/3|ENST00000654553.1:n.76+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||1/5|ENST00000659843.1:n.123+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662329|lncRNA||1/1|ENST00000662329.2:n.243+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||1/4|ENST00000662424.2:n.68+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||1/6|ENST00000665376.1:n.123+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||1/5|ENST00000669227.1:n.62+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670585|lncRNA||1/2|ENST00000670585.2:n.78+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670661|lncRNA||2/2|ENST00000670661.2:n.361+639dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||1/2|ENST00000688200.2:n.110+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000690710|lncRNA||1/2|ENST00000690710.2:n.138+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||1/3|ENST00000702093.2:n.120+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||1/3|ENST00000723558.1:n.76+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||1/2|ENST00000723559.1:n.78+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||1/3|ENST00000723560.1:n.48+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||1/2|ENST00000723561.1:n.109+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||1/2|ENST00000723562.1:n.80+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||1/3|ENST00000723563.1:n.113+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||1/2|ENST00000723564.1:n.113+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||1/4|ENST00000723565.1:n.80+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||1/2|ENST00000723566.1:n.47+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||1/3|ENST00000723567.1:n.80+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||1/3|ENST00000723568.1:n.97+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||1/1|ENST00000723569.1:n.136+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||1/2|ENST00000723570.1:n.46+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723571|lncRNA||1/2|ENST00000723571.1:n.138+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723572|lncRNA||1/2|ENST00000723572.1:n.109+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723573|lncRNA||1/3|ENST00000723573.1:n.110+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723574|lncRNA||1/2|ENST00000723574.1:n.68+1060dup|||||||rs75321888||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27920605dup|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723764|lncRNA||||||||||rs75321888|3686|-1||||||||||||Ensembl|||||||chr22:g.27920605dup|||1||||||||||,G|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||||||||||rs75321888|1347|-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq|||||||chr22:g.27920605dup|||1||||||||||,G|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||||||||||rs75321888|1347|-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq|||||||chr22:g.27920605dup|||1||||||||||,G|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||||||||||rs75321888|1347|-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq|||||||chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026962.1|lncRNA||1/2|NR_026962.1:n.170+1060dup|||||||rs75321888||1||EntrezGene|HGNC:29336|||||||||RefSeq||||OK||2|chr22:g.27920605dup|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||1/4|NR_026963.1:n.170+1060dup|||||||rs75321888||1||EntrezGene|HGNC:29336|||||||||RefSeq||||OK||2|chr22:g.27920605dup|||1||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|MIR3199-1|100423034|Transcript|NR_036169.1|miRNA|1/1||NR_036169.1:n.9dup||9-10|||||rs75321888||-1||EntrezGene|HGNC:38294|||||||||RefSeq|||||||chr22:g.27920605dup|||1||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|MIR3199-2|100422998|Transcript|NR_036170.1|miRNA|1/1||NR_036170.1:n.80dup||78-79|||||rs75321888||1||EntrezGene|HGNC:38205|||||||||RefSeq||||||2|chr22:g.27920605dup|||1||||||||||,G|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||||||||||rs75321888|1347|-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq|||||||chr22:g.27920605dup|||1||||||||||,G|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||||||||||rs75321888|1347|-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq|||||||chr22:g.27920605dup|||1||||||||||,G|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||||||||||rs75321888|2194|-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq|||||||chr22:g.27920605dup|||1||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4QRN|enhancer||||||||||rs75321888|||||||||||||||||||||chr22:g.27920605dup|||1||||||||||;TYPE=INDEL;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000417381,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000428818,ENST00000428858,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000436663,ENST00000436996,ENST00000437713,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000460566,ENST00000471825,ENST00000582434,ENST00000611117,ENST00000614690,ENST00000634017,ENST00000636243,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662329,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000670585,ENST00000670661,ENST00000688200,ENST00000690710,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723571,ENST00000723572,ENST00000723573,ENST00000723574,ENST00000723764,NM_001284277.2,NM_001284278.2,NM_012399.5,NR_026962.1,NR_026963.1,NR_036169.1,NR_036170.1,XM_011530052.3,XM_017028707.2,XM_047441269.1,ENSR22_C4QRN;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000180957,ENSG00000264073,ENSG00000276150,ENSG00000277460,ENSG00000180957,ENSG00000283225,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000294461,23760,23760,23760,284900,284900,100423034,100422998,23760,23760,23760,.;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,PITPNB,MIR3199-1,.,.,PITPNB,MIR3199-2,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.,PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,MIR3199-1,MIR3199-2,PITPNB,PITPNB,PITPNB,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=147846;gnomADv4_1_AC_joint_XX=75594;gnomADv4_1_AC_joint_XY=72252;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999932;gnomADv4_1_AF_joint_XX=0.999947;gnomADv4_1_AF_joint_XY=0.999917;gnomADv4_1_AN_grpmax_joint=1740;gnomADv4_1_AN_joint=147856;gnomADv4_1_AN_joint_XX=75598;gnomADv4_1_AN_joint_XY=72258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=73918;gnomADv4_1_nhomalt_joint_XX=37795;gnomADv4_1_nhomalt_joint_XY=36123;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27923024 chr22_27923024_C_CTT C CTT 21 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=21;CADDIndel_PHREDscore=0.171;CADDIndel_Rawscore=-0.467748;CSQ=TT|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||||||||||rs948074910|3769|-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||||||||||rs948074910|3768|-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||||||||||rs948074910|2890|-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417381|lncRNA||||||||||rs948074910|13|1||HGNC|HGNC:29336|4||||||||Ensembl|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||1/3|ENST00000417497.6:n.158+3497_158+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|3||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+3497_145+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|1||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+3497_154+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|4||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||2/3|ENST00000425112.3:n.278+864_278+865dup|||||||rs948074910||1||HGNC|HGNC:29336|3||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428818|lncRNA||1/1|ENST00000428818.6:n.110-1305_110-1304dup|||||||rs948074910||1||HGNC|HGNC:29336|5||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428858|retained_intron||2/2|ENST00000428858.2:n.656+864_656+865dup|||||||rs948074910||1||HGNC|HGNC:29336|4||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||1/3|ENST00000430853.5:n.170+3497_170+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|4||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+3497_158+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|3||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||1/6|ENST00000435348.6:n.89+3497_89+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|4||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||||||||||rs948074910|3810|-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000436996|retained_intron||||||||||rs948074910|454|1||HGNC|HGNC:29336|2||||||||Ensembl|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000437713|lncRNA||2/2|ENST00000437713.8:n.319+864_319+865dup|||||||rs948074910||1||HGNC|HGNC:29336|1||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||1/4|ENST00000452612.5:n.55+3497_55+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|3||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||1/3|ENST00000453632.6:n.123+3497_123+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|4||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||1/4|ENST00000454741.5:n.125+3497_125+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|1||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||1/2|ENST00000454996.9:n.159+3497_159+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|2||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||||||||||rs948074910|3768|-1||HGNC|HGNC:9002|4||||||||Ensembl|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000471825|retained_intron||||||||||rs948074910|3780|-1||HGNC|HGNC:9002|2||||||||Ensembl|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|MIR3199-1|ENSG00000264073|Transcript|ENST00000582434|miRNA||||||||||rs948074910|2412|-1||HGNC|HGNC:38294|||||||||Ensembl|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|downstream_gene_variant|MODIFIER||ENSG00000276150|Transcript|ENST00000611117|misc_RNA||||||||||rs948074910|846|1||||||||||||Ensembl|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|downstream_gene_variant|MODIFIER||ENSG00000277460|Transcript|ENST00000614690|misc_RNA||||||||||rs948074910|3479|1||||||||||||Ensembl|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||||||||||rs948074910|3825|-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|MIR3199-2|ENSG00000283225|Transcript|ENST00000636243|miRNA||||||||||rs948074910|2413|1||HGNC|HGNC:38205|||||||||Ensembl|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||2/3|ENST00000654553.1:n.237+864_237+865dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+3497_113+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||1/5|ENST00000659843.1:n.123+3497_123+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662329|lncRNA|2/2||ENST00000662329.2:n.1268_1269dup||1250-1251|||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||2/4|ENST00000662424.2:n.229+864_229+865dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+3497_117+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+3497_80+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||1/6|ENST00000665376.1:n.123+3497_123+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+3497_108+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||1/5|ENST00000669227.1:n.62+3497_62+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670585|lncRNA||2/2|ENST00000670585.2:n.288+815_288+816dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670661|lncRNA|3/3||ENST00000670661.2:n.1386_1387dup||1368-1369|||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||1/2|ENST00000688200.2:n.110+3497_110+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000690710|lncRNA||2/2|ENST00000690710.2:n.362+801_362+802dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||1/3|ENST00000702093.2:n.120+3497_120+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||2/3|ENST00000723558.1:n.237+864_237+865dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||1/2|ENST00000723559.1:n.78+3497_78+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||2/3|ENST00000723560.1:n.209+864_209+865dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+801_333+802dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+864_241+865dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||2/3|ENST00000723563.1:n.274+864_274+865dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||1/2|ENST00000723564.1:n.113+3497_113+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||2/4|ENST00000723565.1:n.241+864_241+865dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||1/2|ENST00000723566.1:n.47+3497_47+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||2/3|ENST00000723567.1:n.241+864_241+865dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||2/3|ENST00000723568.1:n.258+864_258+865dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||1/1|ENST00000723569.1:n.136+3497_136+3498dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||2/2|ENST00000723570.1:n.207+864_207+865dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723571|lncRNA||2/2|ENST00000723571.1:n.462+701_462+702dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723572|lncRNA||2/2|ENST00000723572.1:n.595+539_595+540dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723573|lncRNA||3/3|ENST00000723573.1:n.307+701_307+702dup|||||||rs948074910||1||HGNC|HGNC:29336|||||||||Ensembl||||||19|chr22:g.27923042_27923043dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723574|lncRNA||||||||||rs948074910|530|1||HGNC|HGNC:29336|||||||||Ensembl|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|downstream_gene_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723764|lncRNA||||||||||rs948074910|1265|-1||||||||||||Ensembl|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||||||||||rs948074910|3768|-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||||||||||rs948074910|3768|-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||||||||||rs948074910|3768|-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026962.1|lncRNA||2/2|NR_026962.1:n.331+864_331+865dup|||||||rs948074910||1||EntrezGene|HGNC:29336|||||||||RefSeq||||OK||19|chr22:g.27923042_27923043dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||1/4|NR_026963.1:n.170+3497_170+3498dup|||||||rs948074910||1||EntrezGene|HGNC:29336|||||||||RefSeq||||OK||19|chr22:g.27923042_27923043dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|MIR3199-1|100423034|Transcript|NR_036169.1|miRNA||||||||||rs948074910|2412|-1||EntrezGene|HGNC:38294|||||||||RefSeq|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|MIR3199-2|100422998|Transcript|NR_036170.1|miRNA||||||||||rs948074910|2413|1||EntrezGene|HGNC:38205|||||||||RefSeq|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||||||||||rs948074910|3768|-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||||||||||rs948074910|3768|-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq|||||||chr22:g.27923042_27923043dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||||||||||rs948074910|4615|-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq|||||||chr22:g.27923042_27923043dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000417381,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000428818,ENST00000428858,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000436663,ENST00000436996,ENST00000437713,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000460566,ENST00000471825,ENST00000582434,ENST00000611117,ENST00000614690,ENST00000634017,ENST00000636243,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662329,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000670585,ENST00000670661,ENST00000688200,ENST00000690710,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723571,ENST00000723572,ENST00000723573,ENST00000723574,ENST00000723764,NM_001284277.2,NM_001284278.2,NM_012399.5,NR_026962.1,NR_026963.1,NR_036169.1,NR_036170.1,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000180957,ENSG00000264073,ENSG00000276150,ENSG00000277460,ENSG00000180957,ENSG00000283225,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000294461,23760,23760,23760,284900,284900,100423034,100422998,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,PITPNB,MIR3199-1,.,.,PITPNB,MIR3199-2,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.,PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,MIR3199-1,MIR3199-2,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9938;gnomADv4_1_AC_joint_XX=5454;gnomADv4_1_AC_joint_XY=4484;gnomADv4_1_AF_grpmax_joint=0.16831;gnomADv4_1_AF_joint=0.099374;gnomADv4_1_AF_joint_XX=0.102181;gnomADv4_1_AF_joint_XY=0.0961613;gnomADv4_1_AN_grpmax_joint=2840;gnomADv4_1_AN_joint=100006;gnomADv4_1_AN_joint_XX=53376;gnomADv4_1_AN_joint_XY=46630;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=543;gnomADv4_1_nhomalt_joint_XX=290;gnomADv4_1_nhomalt_joint_XY=253;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27923290 chr22_27923290_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.35;CADD_Rawscore=0.060434;CSQ=A|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000320996|protein_coding||||||||||rs5762405|4035|-1||HGNC|HGNC:9002|1|CCDS63433.1|ENSP00000321266|P48739.190||UPI000006EE85|P48739-2||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000335272|protein_coding||||||||||rs5762405|4034|-1||HGNC|HGNC:9002|1|CCDS13842.1|ENSP00000334738|P48739.190||UPI0000043C3A|P48739-1||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||||||||||rs5762405|3156|-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417381|lncRNA||||||||||rs5762405|279|1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||1/3|ENST00000417497.6:n.158+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||2/3|ENST00000425112.3:n.278+1112G>A|||||||rs5762405||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428818|lncRNA||1/1|ENST00000428818.6:n.110-1057G>A|||||||rs5762405||1||HGNC|HGNC:29336|5||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428858|retained_intron||2/2|ENST00000428858.2:n.657-1057G>A|||||||rs5762405||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||1/3|ENST00000430853.5:n.170+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||1/6|ENST00000435348.6:n.89+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000436663|protein_coding||||||||||rs5762405|4076|-1|cds_end_NF|HGNC|HGNC:9002|2||ENSP00000403675||B3KYB7.95|UPI0003F47E0D|||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000436996|retained_intron||||||||||rs5762405|720|1||HGNC|HGNC:29336|2||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000437713|lncRNA||2/2|ENST00000437713.8:n.320-1057G>A|||||||rs5762405||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||1/4|ENST00000452612.5:n.55+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||1/3|ENST00000453632.6:n.123+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||1/4|ENST00000454741.5:n.125+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||1/2|ENST00000454996.9:n.159+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|2||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000460566|retained_intron||||||||||rs5762405|4034|-1||HGNC|HGNC:9002|4||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000471825|retained_intron||||||||||rs5762405|4046|-1||HGNC|HGNC:9002|2||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|MIR3199-1|ENSG00000264073|Transcript|ENST00000582434|miRNA||||||||||rs5762405|2678|-1||HGNC|HGNC:38294|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000276150|Transcript|ENST00000611117|misc_RNA||||||||||rs5762405|1112|1||||||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000277460|Transcript|ENST00000614690|misc_RNA||||||||||rs5762405|3745|1||||||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000634017|protein_coding||||||||||rs5762405|4091|-1||HGNC|HGNC:9002|2|CCDS63432.1|ENSP00000487693|P48739.190||UPI0000EE59E2|P48739-3||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|MIR3199-2|ENSG00000283225|Transcript|ENST00000636243|miRNA||||||||||rs5762405|2679|1||HGNC|HGNC:38205|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||2/3|ENST00000654553.1:n.237+1112G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||1/5|ENST00000659843.1:n.123+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662329|lncRNA|2/2||ENST00000662329.2:n.1516G>A||1516|||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||2/4|ENST00000662424.2:n.229+1112G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||1/6|ENST00000665376.1:n.123+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||1/5|ENST00000669227.1:n.62+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670585|lncRNA||2/2|ENST00000670585.2:n.289-1057G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670661|lncRNA|3/3||ENST00000670661.2:n.1634G>A||1634|||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||1/2|ENST00000688200.2:n.110+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000690710|lncRNA||2/2|ENST00000690710.2:n.362+1049G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||1/3|ENST00000702093.2:n.120+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||2/3|ENST00000723558.1:n.237+1112G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||1/2|ENST00000723559.1:n.78+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||2/3|ENST00000723560.1:n.209+1112G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+1049G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+1112G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||2/3|ENST00000723563.1:n.274+1112G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||1/2|ENST00000723564.1:n.113+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||2/4|ENST00000723565.1:n.241+1112G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||1/2|ENST00000723566.1:n.47+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||2/3|ENST00000723567.1:n.241+1112G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||2/3|ENST00000723568.1:n.258+1112G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||1/1|ENST00000723569.1:n.136+3745G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||2/2|ENST00000723570.1:n.207+1112G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723571|lncRNA||2/2|ENST00000723571.1:n.462+949G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723572|lncRNA||2/2|ENST00000723572.1:n.595+787G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723573|lncRNA||3/3|ENST00000723573.1:n.307+949G>A|||||||rs5762405||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723574|lncRNA||||||||||rs5762405|796|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723764|lncRNA||||||||||rs5762405|1000|-1||||||||||||Ensembl||G|G||||chr22:g.27923290G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284277.2|protein_coding||||||||||rs5762405|4034|-1||EntrezGene|HGNC:9002|||NP_001271206.1||||||RefSeq||G|G||||chr22:g.27923290G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_001284278.2|protein_coding||||||||||rs5762405|4034|-1||EntrezGene|HGNC:9002|||NP_001271207.1||||||RefSeq||G|G||||chr22:g.27923290G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|NM_012399.5|protein_coding||||||||||rs5762405|4034|-1||EntrezGene|HGNC:9002|||NP_036531.1||||||RefSeq||G|G||||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026962.1|lncRNA||2/2|NR_026962.1:n.332-1057G>A|||||||rs5762405||1||EntrezGene|HGNC:29336|||||||||RefSeq||G|G|OK|||chr22:g.27923290G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||1/4|NR_026963.1:n.170+3745G>A|||||||rs5762405||1||EntrezGene|HGNC:29336|||||||||RefSeq||G|G|OK|||chr22:g.27923290G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|MIR3199-1|100423034|Transcript|NR_036169.1|miRNA||||||||||rs5762405|2678|-1||EntrezGene|HGNC:38294|||||||||RefSeq||G|G||||chr22:g.27923290G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|MIR3199-2|100422998|Transcript|NR_036170.1|miRNA||||||||||rs5762405|2679|1||EntrezGene|HGNC:38205|||||||||RefSeq||G|G||||chr22:g.27923290G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_011530052.3|protein_coding||||||||||rs5762405|4034|-1||EntrezGene|HGNC:9002|||XP_011528354.1||||||RefSeq||G|G||||chr22:g.27923290G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_017028707.2|protein_coding||||||||||rs5762405|4034|-1||EntrezGene|HGNC:9002|||XP_016884196.1||||||RefSeq||G|G||||chr22:g.27923290G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|PITPNB|23760|Transcript|XM_047441269.1|protein_coding||||||||||rs5762405|4881|-1||EntrezGene|HGNC:9002|||XP_047297225.1||||||RefSeq||G|G||||chr22:g.27923290G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000320996,ENST00000335272,ENST00000415296,ENST00000417381,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000428818,ENST00000428858,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000436663,ENST00000436996,ENST00000437713,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000460566,ENST00000471825,ENST00000582434,ENST00000611117,ENST00000614690,ENST00000634017,ENST00000636243,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662329,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000670585,ENST00000670661,ENST00000688200,ENST00000690710,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723571,ENST00000723572,ENST00000723573,ENST00000723574,ENST00000723764,NM_001284277.2,NM_001284278.2,NM_012399.5,NR_026962.1,NR_026963.1,NR_036169.1,NR_036170.1,XM_011530052.3,XM_017028707.2,XM_047441269.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000180957,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000180957,ENSG00000180957,ENSG00000264073,ENSG00000276150,ENSG00000277460,ENSG00000180957,ENSG00000283225,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000294461,23760,23760,23760,284900,284900,100423034,100422998,23760,23760,23760;VEP_SYMBOL=PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,PITPNB,PITPNB,MIR3199-1,.,.,PITPNB,MIR3199-2,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.,PITPNB,PITPNB,PITPNB,TTC28-AS1,TTC28-AS1,MIR3199-1,MIR3199-2,PITPNB,PITPNB,PITPNB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40102;gnomADv4_1_AC_joint_XX=20431;gnomADv4_1_AC_joint_XY=19671;gnomADv4_1_AF_grpmax_joint=0.345781;gnomADv4_1_AF_joint=0.266799;gnomADv4_1_AF_joint_XX=0.265565;gnomADv4_1_AF_joint_XY=0.268092;gnomADv4_1_AN_grpmax_joint=4740;gnomADv4_1_AN_joint=150308;gnomADv4_1_AN_joint_XX=76934;gnomADv4_1_AN_joint_XY=73374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5457;gnomADv4_1_nhomalt_joint_XX=2753;gnomADv4_1_nhomalt_joint_XY=2704;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27924294 chr22_27924294_GT_G GT G 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.06;CADDIndel_Rawscore=-0.751239;CSQ=-|upstream_gene_variant|MODIFIER|PITPNB|ENSG00000180957|Transcript|ENST00000415296|protein_coding||||||||||rs66526966|4161|-1|cds_end_NF|HGNC|HGNC:9002|3||ENSP00000406542||B3KYB6.91|UPI0001611021|||Ensembl||T|T||||chr22:g.27924308del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417381|lncRNA||||||||||rs66526966|1284|1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||1/3|ENST00000417497.6:n.158+4763del|||||||rs66526966||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+4763del|||||||rs66526966||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+4763del|||||||rs66526966||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||2/3|ENST00000425112.3:n.278+2130del|||||||rs66526966||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428818|lncRNA||1/1|ENST00000428818.6:n.110-39del|||||||rs66526966||1||HGNC|HGNC:29336|5||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428858|retained_intron||2/2|ENST00000428858.2:n.657-39del|||||||rs66526966||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||1/3|ENST00000430853.5:n.170+4763del|||||||rs66526966||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+4763del|||||||rs66526966||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||1/6|ENST00000435348.6:n.89+4763del|||||||rs66526966||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000436996|retained_intron||||||||||rs66526966|1725|1||HGNC|HGNC:29336|2||||||||Ensembl||T|T||||chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000437713|lncRNA||2/2|ENST00000437713.8:n.320-39del|||||||rs66526966||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||1/4|ENST00000452612.5:n.55+4763del|||||||rs66526966||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||1/3|ENST00000453632.6:n.123+4763del|||||||rs66526966||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||1/4|ENST00000454741.5:n.125+4763del|||||||rs66526966||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||1/2|ENST00000454996.9:n.159+4763del|||||||rs66526966||1||HGNC|HGNC:29336|2||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|upstream_gene_variant|MODIFIER|MIR3199-1|ENSG00000264073|Transcript|ENST00000582434|miRNA||||||||||rs66526966|3683|-1||HGNC|HGNC:38294|||||||||Ensembl||T|T||||chr22:g.27924308del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000276150|Transcript|ENST00000611117|misc_RNA||||||||||rs66526966|2117|1||||||||||||Ensembl||T|T||||chr22:g.27924308del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000277460|Transcript|ENST00000614690|misc_RNA||||||||||rs66526966|4750|1||||||||||||Ensembl||T|T||||chr22:g.27924308del|||||||||||||,-|downstream_gene_variant|MODIFIER|MIR3199-2|ENSG00000283225|Transcript|ENST00000636243|miRNA||||||||||rs66526966|3684|1||HGNC|HGNC:38205|||||||||Ensembl||T|T||||chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||2/3|ENST00000654553.1:n.237+2130del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+4763del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||1/5|ENST00000659843.1:n.123+4763del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662329|lncRNA|2/2||ENST00000662329.2:n.2534del||2521|||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||2/4|ENST00000662424.2:n.229+2130del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+4763del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+4763del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||1/6|ENST00000665376.1:n.123+4763del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+4763del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||1/5|ENST00000669227.1:n.62+4763del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670585|lncRNA||2/2|ENST00000670585.2:n.289-39del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670661|lncRNA|3/3||ENST00000670661.2:n.2652del||2639|||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||1/2|ENST00000688200.2:n.110+4763del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000690710|lncRNA||2/2|ENST00000690710.2:n.363-39del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||1/3|ENST00000702093.2:n.120+4763del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||2/3|ENST00000723558.1:n.237+2130del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||1/2|ENST00000723559.1:n.78+4763del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||2/3|ENST00000723560.1:n.209+2130del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+2067del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+2130del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||2/3|ENST00000723563.1:n.274+2130del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||1/2|ENST00000723564.1:n.113+4763del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||2/4|ENST00000723565.1:n.241+2130del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||1/2|ENST00000723566.1:n.47+4763del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||2/3|ENST00000723567.1:n.241+2130del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||2/3|ENST00000723568.1:n.258+2130del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||1/1|ENST00000723569.1:n.136+4763del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||2/2|ENST00000723570.1:n.207+2130del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723571|lncRNA||2/2|ENST00000723571.1:n.463-39del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723572|lncRNA||2/2|ENST00000723572.1:n.596-289del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723573|lncRNA||3/3|ENST00000723573.1:n.308-39del|||||||rs66526966||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||13|chr22:g.27924308del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723574|lncRNA||||||||||rs66526966|1801|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27924308del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723764|lncRNA|3/3||ENST00000723764.1:n.781del||781|||||rs66526966||-1||||||||||||Ensembl||T|T||||chr22:g.27924308del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723765|lncRNA||||||||||rs66526966|4201|-1||||||||||||Ensembl||T|T||||chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026962.1|lncRNA||2/2|NR_026962.1:n.332-39del|||||||rs66526966||1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK||13|chr22:g.27924308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||1/4|NR_026963.1:n.170+4763del|||||||rs66526966||1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK||13|chr22:g.27924308del|||||||||||||,-|upstream_gene_variant|MODIFIER|MIR3199-1|100423034|Transcript|NR_036169.1|miRNA||||||||||rs66526966|3683|-1||EntrezGene|HGNC:38294|||||||||RefSeq||T|T||||chr22:g.27924308del|||||||||||||,-|downstream_gene_variant|MODIFIER|MIR3199-2|100422998|Transcript|NR_036170.1|miRNA||||||||||rs66526966|3684|1||EntrezGene|HGNC:38205|||||||||RefSeq||T|T||||chr22:g.27924308del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000415296,ENST00000417381,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000428818,ENST00000428858,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000436996,ENST00000437713,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000582434,ENST00000611117,ENST00000614690,ENST00000636243,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662329,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000670585,ENST00000670661,ENST00000688200,ENST00000690710,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723571,ENST00000723572,ENST00000723573,ENST00000723574,ENST00000723764,ENST00000723765,NR_026962.1,NR_026963.1,NR_036169.1,NR_036170.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000180957,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000264073,ENSG00000276150,ENSG00000277460,ENSG00000283225,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000294461,ENSG00000294461,284900,284900,100423034,100422998;VEP_SYMBOL=PITPNB,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,MIR3199-1,.,.,MIR3199-2,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.,.,TTC28-AS1,TTC28-AS1,MIR3199-1,MIR3199-2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=106264;gnomADv4_1_AC_joint_XX=54904;gnomADv4_1_AC_joint_XY=51360;gnomADv4_1_AF_grpmax_joint=0.941692;gnomADv4_1_AF_joint=0.78593;gnomADv4_1_AF_joint_XX=0.786433;gnomADv4_1_AF_joint_XY=0.785393;gnomADv4_1_AN_grpmax_joint=4682;gnomADv4_1_AN_joint=135208;gnomADv4_1_AN_joint_XX=69814;gnomADv4_1_AN_joint_XY=65394;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41321;gnomADv4_1_nhomalt_joint_XX=21372;gnomADv4_1_nhomalt_joint_XY=19949;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27925229 chr22_27925229_T_C T C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.412;CADD_Rawscore=-0.241601;CSQ=C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417381|lncRNA||||||||||rs6005671|2218|1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||1/3|ENST00000417497.6:n.158+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||2/3|ENST00000425112.3:n.278+3051T>C|||||||rs6005671||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428818|lncRNA||||||||||rs6005671|266|1||HGNC|HGNC:29336|5||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428858|retained_intron||||||||||rs6005671|515|1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||1/3|ENST00000430853.5:n.170+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||1/6|ENST00000435348.6:n.89+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000436996|retained_intron||||||||||rs6005671|2659|1||HGNC|HGNC:29336|2||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000437713|lncRNA||||||||||rs6005671|261|1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||1/4|ENST00000452612.5:n.55+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||1/3|ENST00000453632.6:n.123+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||1/4|ENST00000454741.5:n.125+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||1/2|ENST00000454996.9:n.159+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|2||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|MIR3199-1|ENSG00000264073|Transcript|ENST00000582434|miRNA||||||||||rs6005671|4617|-1||HGNC|HGNC:38294|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000276150|Transcript|ENST00000611117|misc_RNA||||||||||rs6005671|3051|1||||||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|MIR3199-2|ENSG00000283225|Transcript|ENST00000636243|miRNA||||||||||rs6005671|4618|1||HGNC|HGNC:38205|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||2/3|ENST00000654553.1:n.237+3051T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||1/5|ENST00000659843.1:n.123+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662329|lncRNA||||||||||rs6005671|313|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||2/4|ENST00000662424.2:n.229+3051T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||1/6|ENST00000665376.1:n.123+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||1/5|ENST00000669227.1:n.62+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670585|lncRNA||||||||||rs6005671|266|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670661|lncRNA||||||||||rs6005671|279|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||1/2|ENST00000688200.2:n.110+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000690710|lncRNA||||||||||rs6005671|266|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||1/3|ENST00000702093.2:n.120+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||2/3|ENST00000723558.1:n.237+3051T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||1/2|ENST00000723559.1:n.78+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||2/3|ENST00000723560.1:n.209+3051T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+2988T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+3051T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||2/3|ENST00000723563.1:n.274+3051T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||1/2|ENST00000723564.1:n.113+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||2/4|ENST00000723565.1:n.241+3051T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||1/2|ENST00000723566.1:n.47+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||2/3|ENST00000723567.1:n.241+3051T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||2/3|ENST00000723568.1:n.258+3051T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||1/1|ENST00000723569.1:n.136+5684T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||2/2|ENST00000723570.1:n.207+3051T>C|||||||rs6005671||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723571|lncRNA||||||||||rs6005671|266|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723572|lncRNA||||||||||rs6005671|283|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723573|lncRNA||||||||||rs6005671|463|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723574|lncRNA||||||||||rs6005671|2735|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723764|lncRNA||2/2|ENST00000723764.1:n.401-554A>G|||||||rs6005671||-1||||||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723765|lncRNA||||||||||rs6005671|3267|-1||||||||||||Ensembl||T|T||||chr22:g.27925229T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026962.1|lncRNA||||||||||rs6005671|266|1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK|||chr22:g.27925229T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||1/4|NR_026963.1:n.170+5684T>C|||||||rs6005671||1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK|||chr22:g.27925229T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|MIR3199-1|100423034|Transcript|NR_036169.1|miRNA||||||||||rs6005671|4617|-1||EntrezGene|HGNC:38294|||||||||RefSeq||T|T||||chr22:g.27925229T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|MIR3199-2|100422998|Transcript|NR_036170.1|miRNA||||||||||rs6005671|4618|1||EntrezGene|HGNC:38205|||||||||RefSeq||T|T||||chr22:g.27925229T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000417381,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000428818,ENST00000428858,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000436996,ENST00000437713,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000582434,ENST00000611117,ENST00000636243,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662329,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000670585,ENST00000670661,ENST00000688200,ENST00000690710,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723571,ENST00000723572,ENST00000723573,ENST00000723574,ENST00000723764,ENST00000723765,NR_026962.1,NR_026963.1,NR_036169.1,NR_036170.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000264073,ENSG00000276150,ENSG00000283225,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000294461,ENSG00000294461,284900,284900,100423034,100422998;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,MIR3199-1,.,MIR3199-2,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.,.,TTC28-AS1,TTC28-AS1,MIR3199-1,MIR3199-2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88475;gnomADv4_1_AC_joint_XX=44740;gnomADv4_1_AC_joint_XY=43735;gnomADv4_1_AF_grpmax_joint=0.700641;gnomADv4_1_AF_joint=0.581766;gnomADv4_1_AF_joint_XX=0.575567;gnomADv4_1_AF_joint_XY=0.588247;gnomADv4_1_AN_grpmax_joint=41502;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26457;gnomADv4_1_nhomalt_joint_XX=13233;gnomADv4_1_nhomalt_joint_XY=13224;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27928936 chr22_27928936_C_T C T 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.484;CADD_Rawscore=-0.201507;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||1/3|ENST00000417497.6:n.159-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+9391C>T|||||||rs62235636||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+9391C>T|||||||rs62235636||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||2/3|ENST00000425112.3:n.279-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428818|lncRNA||||||||||rs62235636|3973|1||HGNC|HGNC:29336|5||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428858|retained_intron||||||||||rs62235636|4222|1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||1/3|ENST00000430853.5:n.171-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+9391C>T|||||||rs62235636||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||1/6|ENST00000435348.6:n.90-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000437713|lncRNA||||||||||rs62235636|3968|1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||1/4|ENST00000452612.5:n.56-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||1/3|ENST00000453632.6:n.124-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||1/4|ENST00000454741.5:n.126-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||1/2|ENST00000454996.9:n.160-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||2/3|ENST00000654553.1:n.238-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+9391C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||1/5|ENST00000659843.1:n.124-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662329|lncRNA||||||||||rs62235636|4020|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||2/4|ENST00000662424.2:n.230-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+9391C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+9391C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||1/6|ENST00000665376.1:n.124-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+9391C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||1/5|ENST00000669227.1:n.63-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670585|lncRNA||||||||||rs62235636|3973|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670661|lncRNA||||||||||rs62235636|3986|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||1/2|ENST00000688200.2:n.111-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000690710|lncRNA||||||||||rs62235636|3973|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||1/3|ENST00000702093.2:n.121-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||2/3|ENST00000723558.1:n.238-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||1/2|ENST00000723559.1:n.79-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||2/3|ENST00000723560.1:n.210-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+6695C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+6758C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||2/3|ENST00000723563.1:n.275-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||1/2|ENST00000723564.1:n.114-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||2/4|ENST00000723565.1:n.242-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||1/2|ENST00000723566.1:n.48-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||2/3|ENST00000723567.1:n.242-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||2/3|ENST00000723568.1:n.259-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||1/1|ENST00000723569.1:n.137-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||2/2|ENST00000723570.1:n.208-6215C>T|||||||rs62235636||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723571|lncRNA||||||||||rs62235636|3973|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723572|lncRNA||||||||||rs62235636|3990|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723573|lncRNA||||||||||rs62235636|4170|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723764|lncRNA||2/2|ENST00000723764.1:n.400+1758G>A|||||||rs62235636||-1||||||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723765|lncRNA||2/2|ENST00000723765.1:n.401-92G>A|||||||rs62235636||-1||||||||||||Ensembl||C|C||||chr22:g.27928936C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026962.1|lncRNA||||||||||rs62235636|3973|1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27928936C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||1/4|NR_026963.1:n.171-6215C>T|||||||rs62235636||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27928936C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000428818,ENST00000428858,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000437713,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662329,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000670585,ENST00000670661,ENST00000688200,ENST00000690710,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723571,ENST00000723572,ENST00000723573,ENST00000723764,ENST00000723765,NR_026962.1,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000294461,ENSG00000294461,284900,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.,.,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9418;gnomADv4_1_AC_joint_XX=4893;gnomADv4_1_AC_joint_XY=4525;gnomADv4_1_AF_grpmax_joint=0.119048;gnomADv4_1_AF_joint=0.0618962;gnomADv4_1_AF_joint_XX=0.0629195;gnomADv4_1_AF_joint_XY=0.0608264;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=323;gnomADv4_1_nhomalt_joint_XX=173;gnomADv4_1_nhomalt_joint_XY=150;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27929505 chr22_27929505_CT_C CT C 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.241;CADDIndel_Rawscore=-0.378755;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||1/3|ENST00000417497.6:n.159-5636del|||||||rs59570676||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+9970del|||||||rs59570676||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+9970del|||||||rs59570676||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||2/3|ENST00000425112.3:n.279-5636del|||||||rs59570676||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428818|lncRNA||||||||||rs59570676|4543|1||HGNC|HGNC:29336|5||||||||Ensembl||T|T||||chr22:g.27929515del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428858|retained_intron||||||||||rs59570676|4792|1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||1/3|ENST00000430853.5:n.171-5636del|||||||rs59570676||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+9970del|||||||rs59570676||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||1/6|ENST00000435348.6:n.90-5636del|||||||rs59570676||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000437713|lncRNA||||||||||rs59570676|4538|1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||1/4|ENST00000452612.5:n.56-5636del|||||||rs59570676||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||1/3|ENST00000453632.6:n.124-5636del|||||||rs59570676||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||1/4|ENST00000454741.5:n.126-5636del|||||||rs59570676||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||1/2|ENST00000454996.9:n.160-5636del|||||||rs59570676||1||HGNC|HGNC:29336|2||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||2/3|ENST00000654553.1:n.238-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+9970del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||1/5|ENST00000659843.1:n.124-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662329|lncRNA||||||||||rs59570676|4590|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||2/4|ENST00000662424.2:n.230-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+9970del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+9970del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||1/6|ENST00000665376.1:n.124-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+9970del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||1/5|ENST00000669227.1:n.63-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670585|lncRNA||||||||||rs59570676|4543|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27929515del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000670661|lncRNA||||||||||rs59570676|4556|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||1/2|ENST00000688200.2:n.111-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000690710|lncRNA||||||||||rs59570676|4543|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||1/3|ENST00000702093.2:n.121-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||2/3|ENST00000723558.1:n.238-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||1/2|ENST00000723559.1:n.79-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||2/3|ENST00000723560.1:n.210-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+7274del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+7337del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||2/3|ENST00000723563.1:n.275-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||1/2|ENST00000723564.1:n.114-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||2/4|ENST00000723565.1:n.242-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||1/2|ENST00000723566.1:n.48-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||2/3|ENST00000723567.1:n.242-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||2/3|ENST00000723568.1:n.259-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||1/1|ENST00000723569.1:n.137-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||2/2|ENST00000723570.1:n.208-5636del|||||||rs59570676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||9|chr22:g.27929515del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723571|lncRNA||||||||||rs59570676|4543|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27929515del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723572|lncRNA||||||||||rs59570676|4560|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27929515del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723573|lncRNA||||||||||rs59570676|4740|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723764|lncRNA||2/2|ENST00000723764.1:n.400+1188del|||||||rs59570676||-1||||||||||||Ensembl||T|T||||chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723765|lncRNA||2/2|ENST00000723765.1:n.401-662del|||||||rs59570676||-1||||||||||||Ensembl||T|T||||chr22:g.27929515del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026962.1|lncRNA||||||||||rs59570676|4543|1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK|||chr22:g.27929515del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||1/4|NR_026963.1:n.171-5636del|||||||rs59570676||1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK||9|chr22:g.27929515del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000428818,ENST00000428858,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000437713,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662329,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000670585,ENST00000670661,ENST00000688200,ENST00000690710,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723571,ENST00000723572,ENST00000723573,ENST00000723764,ENST00000723765,NR_026962.1,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000294461,ENSG00000294461,284900,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.,.,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=76856;gnomADv4_1_AC_joint_XX=38986;gnomADv4_1_AC_joint_XY=37870;gnomADv4_1_AF_grpmax_joint=0.655104;gnomADv4_1_AF_joint=0.509804;gnomADv4_1_AF_joint_XX=0.505498;gnomADv4_1_AF_joint_XY=0.514314;gnomADv4_1_AN_grpmax_joint=41050;gnomADv4_1_AN_joint=150756;gnomADv4_1_AN_joint_XX=77124;gnomADv4_1_AN_joint_XY=73632;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20512;gnomADv4_1_nhomalt_joint_XX=10314;gnomADv4_1_nhomalt_joint_XY=10198;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27930379 chr22_27930379_A_T A T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=4.524;CADD_Rawscore=0.412097;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||1/3|ENST00000417497.6:n.159-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+10834A>T|||||||rs146335484||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+10834A>T|||||||rs146335484||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||2/3|ENST00000425112.3:n.279-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||1/3|ENST00000430853.5:n.171-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+10834A>T|||||||rs146335484||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||1/6|ENST00000435348.6:n.90-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||1/4|ENST00000452612.5:n.56-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||1/3|ENST00000453632.6:n.124-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||1/4|ENST00000454741.5:n.126-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||1/2|ENST00000454996.9:n.160-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||2/3|ENST00000654553.1:n.238-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+10834A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||1/5|ENST00000659843.1:n.124-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||2/4|ENST00000662424.2:n.230-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+10834A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+10834A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||1/6|ENST00000665376.1:n.124-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+10834A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||1/5|ENST00000669227.1:n.63-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||1/2|ENST00000688200.2:n.111-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||1/3|ENST00000702093.2:n.121-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||2/3|ENST00000723558.1:n.238-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||1/2|ENST00000723559.1:n.79-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||2/3|ENST00000723560.1:n.210-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+8138A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+8201A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||2/3|ENST00000723563.1:n.275-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||1/2|ENST00000723564.1:n.114-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||2/4|ENST00000723565.1:n.242-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||1/2|ENST00000723566.1:n.48-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||2/3|ENST00000723567.1:n.242-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||2/3|ENST00000723568.1:n.259-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||1/1|ENST00000723569.1:n.137-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||2/2|ENST00000723570.1:n.208-4772A>T|||||||rs146335484||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723764|lncRNA||2/2|ENST00000723764.1:n.400+315T>A|||||||rs146335484||-1||||||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723765|lncRNA||2/2|ENST00000723765.1:n.400+315T>A|||||||rs146335484||-1||||||||||||Ensembl||A|A||||chr22:g.27930379A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||1/4|NR_026963.1:n.171-4772A>T|||||||rs146335484||1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27930379A>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F4BQ|enhancer||||||||||rs146335484|||||||||||||||||||||chr22:g.27930379A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723764,ENST00000723765,NR_026963.1,ENSR22_9F4BQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000294461,ENSG00000294461,284900,.;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.,.,TTC28-AS1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=840;gnomADv4_1_AC_joint_XX=445;gnomADv4_1_AC_joint_XY=395;gnomADv4_1_AF_grpmax_joint=0.00864477;gnomADv4_1_AF_joint=0.00551884;gnomADv4_1_AF_joint_XX=0.0057223;gnomADv4_1_AF_joint_XY=0.00530629;gnomADv4_1_AN_grpmax_joint=68018;gnomADv4_1_AN_joint=152206;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7;gnomADv4_1_nhomalt_joint_XX=4;gnomADv4_1_nhomalt_joint_XY=3;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27930669 chr22_27930669_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=2.944;CADD_Rawscore=0.269076;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||1/3|ENST00000417497.6:n.159-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+11124G>A|||||||rs5762410||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+11124G>A|||||||rs5762410||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||2/3|ENST00000425112.3:n.279-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||1/3|ENST00000430853.5:n.171-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+11124G>A|||||||rs5762410||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||1/6|ENST00000435348.6:n.90-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||1/4|ENST00000452612.5:n.56-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||1/3|ENST00000453632.6:n.124-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||1/4|ENST00000454741.5:n.126-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||1/2|ENST00000454996.9:n.160-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|2||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||2/3|ENST00000654553.1:n.238-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+11124G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||1/5|ENST00000659843.1:n.124-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||2/4|ENST00000662424.2:n.230-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+11124G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+11124G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||1/6|ENST00000665376.1:n.124-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+11124G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||1/5|ENST00000669227.1:n.63-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||1/2|ENST00000688200.2:n.111-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||1/3|ENST00000702093.2:n.121-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||2/3|ENST00000723558.1:n.238-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||1/2|ENST00000723559.1:n.79-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||2/3|ENST00000723560.1:n.210-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+8428G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+8491G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||2/3|ENST00000723563.1:n.275-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||1/2|ENST00000723564.1:n.114-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||2/4|ENST00000723565.1:n.242-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||1/2|ENST00000723566.1:n.48-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||2/3|ENST00000723567.1:n.242-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||2/3|ENST00000723568.1:n.259-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||1/1|ENST00000723569.1:n.137-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||2/2|ENST00000723570.1:n.208-4482G>A|||||||rs5762410||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723764|lncRNA||2/2|ENST00000723764.1:n.400+25C>T|||||||rs5762410||-1||||||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723765|lncRNA||2/2|ENST00000723765.1:n.400+25C>T|||||||rs5762410||-1||||||||||||Ensembl||G|G||||chr22:g.27930669G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||1/4|NR_026963.1:n.171-4482G>A|||||||rs5762410||1||EntrezGene|HGNC:29336|||||||||RefSeq||G|G|OK|||chr22:g.27930669G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F4BQ|enhancer||||||||||rs5762410|||||||||||||||||||||chr22:g.27930669G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723764,ENST00000723765,NR_026963.1,ENSR22_9F4BQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000294461,ENSG00000294461,284900,.;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.,.,TTC28-AS1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14937;gnomADv4_1_AC_joint_XX=7555;gnomADv4_1_AC_joint_XY=7382;gnomADv4_1_AF_grpmax_joint=0.202055;gnomADv4_1_AF_joint=0.0982077;gnomADv4_1_AF_joint_XX=0.0971979;gnomADv4_1_AF_joint_XY=0.0992631;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=806;gnomADv4_1_nhomalt_joint_XX=389;gnomADv4_1_nhomalt_joint_XY=417;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27931276 chr22_27931276_A_G A G 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=2.342;CADD_Rawscore=0.206057;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||1/3|ENST00000417497.6:n.159-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+11731A>G|||||||rs5762412||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+11731A>G|||||||rs5762412||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||2/3|ENST00000425112.3:n.279-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||1/3|ENST00000430853.5:n.171-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+11731A>G|||||||rs5762412||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||1/6|ENST00000435348.6:n.90-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||1/4|ENST00000452612.5:n.56-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||1/3|ENST00000453632.6:n.124-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||1/4|ENST00000454741.5:n.126-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||1/2|ENST00000454996.9:n.160-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||2/3|ENST00000654553.1:n.238-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+11731A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||1/5|ENST00000659843.1:n.124-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||2/4|ENST00000662424.2:n.230-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+11731A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+11731A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||1/6|ENST00000665376.1:n.124-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+11731A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||1/5|ENST00000669227.1:n.63-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||1/2|ENST00000688200.2:n.111-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||1/3|ENST00000702093.2:n.121-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||2/3|ENST00000723558.1:n.238-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||1/2|ENST00000723559.1:n.79-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||2/3|ENST00000723560.1:n.210-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+9035A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+9098A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||2/3|ENST00000723563.1:n.275-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||1/2|ENST00000723564.1:n.114-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||2/4|ENST00000723565.1:n.242-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||1/2|ENST00000723566.1:n.48-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||2/3|ENST00000723567.1:n.242-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||2/3|ENST00000723568.1:n.259-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||1/1|ENST00000723569.1:n.137-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||2/2|ENST00000723570.1:n.208-3875A>G|||||||rs5762412||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723764|lncRNA||1/2|ENST00000723764.1:n.265-447T>C|||||||rs5762412||-1||||||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723765|lncRNA||1/2|ENST00000723765.1:n.265-447T>C|||||||rs5762412||-1||||||||||||Ensembl||A|A||||chr22:g.27931276A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||1/4|NR_026963.1:n.171-3875A>G|||||||rs5762412||1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27931276A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723764,ENST00000723765,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000294461,ENSG00000294461,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.,.,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15004;gnomADv4_1_AC_joint_XX=7587;gnomADv4_1_AC_joint_XY=7417;gnomADv4_1_AF_grpmax_joint=0.20068;gnomADv4_1_AF_joint=0.098551;gnomADv4_1_AF_joint_XX=0.0975193;gnomADv4_1_AF_joint_XY=0.0996293;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152246;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=815;gnomADv4_1_nhomalt_joint_XX=395;gnomADv4_1_nhomalt_joint_XY=420;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27931960 chr22_27931960_G_GT G GT 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.721;CADDIndel_Rawscore=-0.101426;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||1/3|ENST00000417497.6:n.159-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|3||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+12425dup|||||||rs147319684||1||HGNC|HGNC:29336|1||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+12425dup|||||||rs147319684||1||HGNC|HGNC:29336|4||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||2/3|ENST00000425112.3:n.279-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|3||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||1/3|ENST00000430853.5:n.171-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|4||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+12425dup|||||||rs147319684||1||HGNC|HGNC:29336|3||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||1/6|ENST00000435348.6:n.90-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|4||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||1/4|ENST00000452612.5:n.56-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|3||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||1/3|ENST00000453632.6:n.124-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|4||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||1/4|ENST00000454741.5:n.126-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|1||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||1/2|ENST00000454996.9:n.160-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|2||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||2/3|ENST00000654553.1:n.238-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+12425dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||1/5|ENST00000659843.1:n.124-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||2/4|ENST00000662424.2:n.230-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+12425dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+12425dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||1/6|ENST00000665376.1:n.124-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+12425dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||1/5|ENST00000669227.1:n.63-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||1/2|ENST00000688200.2:n.111-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||1/3|ENST00000702093.2:n.121-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||2/3|ENST00000723558.1:n.238-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||1/2|ENST00000723559.1:n.79-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||2/3|ENST00000723560.1:n.210-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+9729dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+9792dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||2/3|ENST00000723563.1:n.275-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||1/2|ENST00000723564.1:n.114-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||2/4|ENST00000723565.1:n.242-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||1/2|ENST00000723566.1:n.48-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||2/3|ENST00000723567.1:n.242-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||2/3|ENST00000723568.1:n.259-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||1/1|ENST00000723569.1:n.137-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||2/2|ENST00000723570.1:n.208-3181dup|||||||rs147319684||1||HGNC|HGNC:29336|||||||||Ensembl||||||10|chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723764|lncRNA||1/2|ENST00000723764.1:n.265-1132dup|||||||rs147319684||-1||||||||||||Ensembl|||||||chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723765|lncRNA||1/2|ENST00000723765.1:n.265-1132dup|||||||rs147319684||-1||||||||||||Ensembl|||||||chr22:g.27931970dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||1/4|NR_026963.1:n.171-3181dup|||||||rs147319684||1||EntrezGene|HGNC:29336|||||||||RefSeq||||OK||10|chr22:g.27931970dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723764,ENST00000723765,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000294461,ENSG00000294461,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.,.,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14935;gnomADv4_1_AC_joint_XX=7601;gnomADv4_1_AC_joint_XY=7334;gnomADv4_1_AF_grpmax_joint=0.2;gnomADv4_1_AF_joint=0.101643;gnomADv4_1_AF_joint_XX=0.100838;gnomADv4_1_AF_joint_XY=0.10249;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=146936;gnomADv4_1_AN_joint_XX=75378;gnomADv4_1_AN_joint_XY=71558;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=797;gnomADv4_1_nhomalt_joint_XX=395;gnomADv4_1_nhomalt_joint_XY=402;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27932253 chr22_27932253_G_T G T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.646;CADD_Rawscore=-0.129157;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||1/3|ENST00000417497.6:n.159-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+12708G>T|||||||rs1985812||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+12708G>T|||||||rs1985812||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||2/3|ENST00000425112.3:n.279-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||1/3|ENST00000430853.5:n.171-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+12708G>T|||||||rs1985812||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||1/6|ENST00000435348.6:n.90-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||1/4|ENST00000452612.5:n.56-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||1/3|ENST00000453632.6:n.124-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||1/4|ENST00000454741.5:n.126-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||1/2|ENST00000454996.9:n.160-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|2||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||2/3|ENST00000654553.1:n.238-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+12708G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||1/5|ENST00000659843.1:n.124-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||2/4|ENST00000662424.2:n.230-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+12708G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+12708G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||1/6|ENST00000665376.1:n.124-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+12708G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||1/5|ENST00000669227.1:n.63-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||1/2|ENST00000688200.2:n.111-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||1/3|ENST00000702093.2:n.121-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||2/3|ENST00000723558.1:n.238-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||1/2|ENST00000723559.1:n.79-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||2/3|ENST00000723560.1:n.210-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+10012G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+10075G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||2/3|ENST00000723563.1:n.275-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||1/2|ENST00000723564.1:n.114-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||2/4|ENST00000723565.1:n.242-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||1/2|ENST00000723566.1:n.48-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||2/3|ENST00000723567.1:n.242-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||2/3|ENST00000723568.1:n.259-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||1/1|ENST00000723569.1:n.137-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||2/2|ENST00000723570.1:n.208-2898G>T|||||||rs1985812||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723764|lncRNA||1/2|ENST00000723764.1:n.264+864C>A|||||||rs1985812||-1||||||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723765|lncRNA||1/2|ENST00000723765.1:n.264+864C>A|||||||rs1985812||-1||||||||||||Ensembl||G|G||||chr22:g.27932253G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||1/4|NR_026963.1:n.171-2898G>T|||||||rs1985812||1||EntrezGene|HGNC:29336|||||||||RefSeq||G|G|OK|||chr22:g.27932253G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723764,ENST00000723765,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000294461,ENSG00000294461,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.,.,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38942;gnomADv4_1_AC_joint_XX=19815;gnomADv4_1_AC_joint_XY=19127;gnomADv4_1_AF_grpmax_joint=0.342558;gnomADv4_1_AF_joint=0.258414;gnomADv4_1_AF_joint_XX=0.257057;gnomADv4_1_AF_joint_XY=0.259835;gnomADv4_1_AN_grpmax_joint=4770;gnomADv4_1_AN_joint=150696;gnomADv4_1_AN_joint_XX=77084;gnomADv4_1_AN_joint_XY=73612;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5184;gnomADv4_1_nhomalt_joint_XX=2602;gnomADv4_1_nhomalt_joint_XY=2582;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27934209 chr22_27934209_T_C T C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=4.504;CADD_Rawscore=0.410295;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||1/3|ENST00000417497.6:n.159-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+14664T>C|||||||rs6005674||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+14664T>C|||||||rs6005674||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||2/3|ENST00000425112.3:n.279-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||1/3|ENST00000430853.5:n.171-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+14664T>C|||||||rs6005674||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||1/6|ENST00000435348.6:n.90-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||1/4|ENST00000452612.5:n.56-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||1/3|ENST00000453632.6:n.124-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||1/4|ENST00000454741.5:n.126-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||1/2|ENST00000454996.9:n.160-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|2||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||2/3|ENST00000654553.1:n.238-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+14664T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||1/5|ENST00000659843.1:n.124-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||2/4|ENST00000662424.2:n.230-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+14664T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+14664T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||1/6|ENST00000665376.1:n.124-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+14664T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||1/5|ENST00000669227.1:n.63-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||1/2|ENST00000688200.2:n.111-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||1/3|ENST00000702093.2:n.121-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||2/3|ENST00000723558.1:n.238-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||1/2|ENST00000723559.1:n.79-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||2/3|ENST00000723560.1:n.210-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+11968T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+12031T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||2/3|ENST00000723563.1:n.275-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||1/2|ENST00000723564.1:n.114-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||2/4|ENST00000723565.1:n.242-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||1/2|ENST00000723566.1:n.48-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||2/3|ENST00000723567.1:n.242-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||2/3|ENST00000723568.1:n.259-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||1/1|ENST00000723569.1:n.137-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||2/2|ENST00000723570.1:n.208-942T>C|||||||rs6005674||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723764|lncRNA||||||||||rs6005674|829|-1||||||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723765|lncRNA||||||||||rs6005674|829|-1||||||||||||Ensembl||T|T||||chr22:g.27934209T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||1/4|NR_026963.1:n.171-942T>C|||||||rs6005674||1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK|||chr22:g.27934209T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723764,ENST00000723765,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000294461,ENSG00000294461,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.,.,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14973;gnomADv4_1_AC_joint_XX=7583;gnomADv4_1_AC_joint_XY=7390;gnomADv4_1_AF_grpmax_joint=0.20068;gnomADv4_1_AF_joint=0.0983474;gnomADv4_1_AF_joint_XX=0.0974328;gnomADv4_1_AF_joint_XY=0.0993039;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152246;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=813;gnomADv4_1_nhomalt_joint_XX=392;gnomADv4_1_nhomalt_joint_XY=421;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27936166 chr22_27936166_A_G A G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.534;CADD_Rawscore=0.094043;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+16621A>G|||||||rs1028364||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+16621A>G|||||||rs1028364||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+16621A>G|||||||rs1028364||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||2/6|ENST00000435348.6:n.169+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||||||||||rs1028364|3852|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+16621A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||3/4|ENST00000662424.2:n.309+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+16621A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+16621A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+16621A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||2/3|ENST00000702093.2:n.200+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+13925A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+13988A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||2/2|ENST00000723566.1:n.127+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||3/3|ENST00000723567.1:n.321+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||3/3|ENST00000723568.1:n.338+936A>G|||||||rs1028364||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||||||||||rs1028364|374|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||||||||||rs1028364|673|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723764|lncRNA||||||||||rs1028364|2786|-1||||||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723765|lncRNA||||||||||rs1028364|2786|-1||||||||||||Ensembl||A|A||||chr22:g.27936166A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+936A>G|||||||rs1028364||1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27936166A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723764,ENST00000723765,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000294461,ENSG00000294461,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.,.,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59274;gnomADv4_1_AC_joint_XX=29989;gnomADv4_1_AC_joint_XY=29285;gnomADv4_1_AF_grpmax_joint=0.599226;gnomADv4_1_AF_joint=0.389796;gnomADv4_1_AF_joint_XX=0.3858;gnomADv4_1_AF_joint_XY=0.393976;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12165;gnomADv4_1_nhomalt_joint_XX=6058;gnomADv4_1_nhomalt_joint_XY=6107;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27938079 chr22_27938079_C_CA C CA 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=37;CADDIndel_PHREDscore=0.591;CADDIndel_Rawscore=-0.151234;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|3||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+18551dup|||||||rs535303496||1||HGNC|HGNC:29336|1||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+18551dup|||||||rs535303496||1||HGNC|HGNC:29336|4||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|3||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|4||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+18551dup|||||||rs535303496||1||HGNC|HGNC:29336|3||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||2/6|ENST00000435348.6:n.170-1924dup|||||||rs535303496||1||HGNC|HGNC:29336|4||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|3||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|4||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|1||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|2||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||||||||||rs535303496|1938|1||HGNC|HGNC:29336|||||||||Ensembl|||||||chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+18551dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||3/4|ENST00000662424.2:n.310-1924dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+18551dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+18551dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+18551dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||2/3|ENST00000702093.2:n.201-1924dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+15855dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+15918dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||2/2|ENST00000723566.1:n.127+2866dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||3/3|ENST00000723567.1:n.322-1924dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||3/3|ENST00000723568.1:n.339-555dup|||||||rs535303496||1||HGNC|HGNC:29336|||||||||Ensembl||||||17|chr22:g.27938096dup|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||||||||||rs535303496|2287|1||HGNC|HGNC:29336|||||||||Ensembl|||||||chr22:g.27938096dup|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||||||||||rs535303496|2586|1||HGNC|HGNC:29336|||||||||Ensembl|||||||chr22:g.27938096dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723764|lncRNA||||||||||rs535303496|4699|-1||||||||||||Ensembl|||||||chr22:g.27938096dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723765|lncRNA||||||||||rs535303496|4699|-1||||||||||||Ensembl|||||||chr22:g.27938096dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+2866dup|||||||rs535303496||1||EntrezGene|HGNC:29336|||||||||RefSeq||||OK||17|chr22:g.27938096dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723764,ENST00000723765,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000294461,ENSG00000294461,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.,.,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12675;gnomADv4_1_AC_joint_XX=6679;gnomADv4_1_AC_joint_XY=5996;gnomADv4_1_AF_grpmax_joint=0.311594;gnomADv4_1_AF_joint=0.165621;gnomADv4_1_AF_joint_XX=0.163517;gnomADv4_1_AF_joint_XY=0.16803;gnomADv4_1_AN_grpmax_joint=138;gnomADv4_1_AN_joint=76530;gnomADv4_1_AN_joint_XX=40846;gnomADv4_1_AN_joint_XY=35684;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=881;gnomADv4_1_nhomalt_joint_XX=459;gnomADv4_1_nhomalt_joint_XY=422;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27938163 chr22_27938163_A_G A G 55 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.928;CADD_Rawscore=0.154283;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+18618A>G|||||||rs185910283||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+18618A>G|||||||rs185910283||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+18618A>G|||||||rs185910283||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||2/6|ENST00000435348.6:n.170-1857A>G|||||||rs185910283||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||||||||||rs185910283|1855|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+18618A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||3/4|ENST00000662424.2:n.310-1857A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+18618A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+18618A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+18618A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||2/3|ENST00000702093.2:n.201-1857A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+15922A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+15985A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||2/2|ENST00000723566.1:n.127+2933A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||3/3|ENST00000723567.1:n.322-1857A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||3/3|ENST00000723568.1:n.339-488A>G|||||||rs185910283||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||||||||||rs185910283|2371|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||||||||||rs185910283|2670|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723764|lncRNA||||||||||rs185910283|4783|-1||||||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723765|lncRNA||||||||||rs185910283|4783|-1||||||||||||Ensembl||A|A||||chr22:g.27938163A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+2933A>G|||||||rs185910283||1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27938163A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723764,ENST00000723765,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000294461,ENSG00000294461,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.,.,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=598;gnomADv4_1_AC_joint_XX=336;gnomADv4_1_AC_joint_XY=262;gnomADv4_1_AF_grpmax_joint=0.0362903;gnomADv4_1_AF_joint=0.00494566;gnomADv4_1_AF_joint_XX=0.00525033;gnomADv4_1_AF_joint_XY=0.00460311;gnomADv4_1_AN_grpmax_joint=248;gnomADv4_1_AN_joint=120914;gnomADv4_1_AN_joint_XX=63996;gnomADv4_1_AN_joint_XY=56918;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27938179 chr22_27938179_AT_A AT A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=0.837;CADDIndel_Rawscore=-0.063571;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+2960del|||||||rs66623536||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+18645del|||||||rs66623536||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+18645del|||||||rs66623536||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+2960del|||||||rs66623536||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+2960del|||||||rs66623536||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+18645del|||||||rs66623536||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||2/6|ENST00000435348.6:n.170-1830del|||||||rs66623536||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+2960del|||||||rs66623536||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+2960del|||||||rs66623536||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+2960del|||||||rs66623536||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+2960del|||||||rs66623536||1||HGNC|HGNC:29336|2||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+2960del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||||||||||rs66623536|1838|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+18645del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+2960del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||3/4|ENST00000662424.2:n.310-1830del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+18645del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+18645del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+2960del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+18645del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+2960del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+2960del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||2/3|ENST00000702093.2:n.201-1830del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+2960del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+2960del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+2960del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+15949del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+16012del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+2960del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+2960del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+2960del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||2/2|ENST00000723566.1:n.127+2960del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||3/3|ENST00000723567.1:n.322-1830del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||3/3|ENST00000723568.1:n.339-461del|||||||rs66623536||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||10|chr22:g.27938190del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||||||||||rs66623536|2388|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27938190del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||||||||||rs66623536|2687|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27938190del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723764|lncRNA||||||||||rs66623536|4800|-1||||||||||||Ensembl||T|T||||chr22:g.27938190del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000294461|Transcript|ENST00000723765|lncRNA||||||||||rs66623536|4800|-1||||||||||||Ensembl||T|T||||chr22:g.27938190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+2960del|||||||rs66623536||1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK||10|chr22:g.27938190del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,ENST00000723764,ENST00000723765,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000294461,ENSG00000294461,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.,.,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=141438;gnomADv4_1_AC_joint_XX=72574;gnomADv4_1_AC_joint_XY=68864;gnomADv4_1_AF_grpmax_joint=0.996503;gnomADv4_1_AF_joint=0.969112;gnomADv4_1_AF_joint_XX=0.967911;gnomADv4_1_AF_joint_XY=0.97038;gnomADv4_1_AN_grpmax_joint=286;gnomADv4_1_AN_joint=145946;gnomADv4_1_AN_joint_XX=74980;gnomADv4_1_AN_joint_XY=70966;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=68545;gnomADv4_1_nhomalt_joint_XX=35127;gnomADv4_1_nhomalt_joint_XY=33418;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27938643 chr22_27938643_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=3.448;CADD_Rawscore=0.316008;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+19098C>T|||||||rs183003299||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+19098C>T|||||||rs183003299||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+19098C>T|||||||rs183003299||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||2/6|ENST00000435348.6:n.170-1377C>T|||||||rs183003299||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||||||||||rs183003299|1375|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+19098C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||3/4|ENST00000662424.2:n.310-1377C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+19098C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+19098C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+19098C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||2/3|ENST00000702093.2:n.201-1377C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+16402C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+16465C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+3413C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||2/2|ENST00000723566.1:n.128-2640C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||3/3|ENST00000723567.1:n.322-1377C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||3/3|ENST00000723568.1:n.339-8C>T|||||||rs183003299||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||||||||||rs183003299|2851|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||||||||||rs183003299|3150|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27938643C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+3413C>T|||||||rs183003299||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27938643C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=838;gnomADv4_1_AC_joint_XX=442;gnomADv4_1_AC_joint_XY=396;gnomADv4_1_AF_grpmax_joint=0.00859915;gnomADv4_1_AF_joint=0.00550439;gnomADv4_1_AF_joint_XX=0.00568065;gnomADv4_1_AF_joint_XY=0.00532015;gnomADv4_1_AN_grpmax_joint=68030;gnomADv4_1_AN_joint=152242;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8;gnomADv4_1_nhomalt_joint_XX=4;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27939116 chr22_27939116_A_T A T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.827;CADD_Rawscore=0.140075;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+19571A>T|||||||rs112503936||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+19571A>T|||||||rs112503936||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+19571A>T|||||||rs112503936||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||2/6|ENST00000435348.6:n.170-904A>T|||||||rs112503936||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||||||||||rs112503936|902|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+19571A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||3/4|ENST00000662424.2:n.310-904A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+19571A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+19571A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+19571A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||2/3|ENST00000702093.2:n.201-904A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+16875A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+16938A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+3886A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||2/2|ENST00000723566.1:n.128-2167A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||3/3|ENST00000723567.1:n.322-904A>T|||||||rs112503936||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||||||||||rs112503936|335|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||||||||||rs112503936|3324|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||||||||||rs112503936|3623|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27939116A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+3886A>T|||||||rs112503936||1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27939116A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9;gnomADv4_1_AC_joint_XX=7;gnomADv4_1_AC_joint_XY=2;gnomADv4_1_AF_grpmax_joint=7.35143e-05;gnomADv4_1_AF_joint=5.91662e-05;gnomADv4_1_AF_joint_XX=8.99627e-05;gnomADv4_1_AF_joint_XY=2.69165e-05;gnomADv4_1_AN_grpmax_joint=68014;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27940088 chr22_27940088_C_T C T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.068;CADD_Rawscore=-0.000652;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+20543C>T|||||||rs73166755||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+20543C>T|||||||rs73166755||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+20543C>T|||||||rs73166755||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA|3/7||ENST00000435348.6:n.238C>T||238|||||rs73166755||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA|1/2||ENST00000654619.1:n.71C>T||71|||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+20543C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA|4/5||ENST00000662424.2:n.378C>T||378|||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+20543C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+20543C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+20543C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA|3/4||ENST00000702093.2:n.269C>T||269|||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+17847C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+17910C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+4858C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||2/2|ENST00000723566.1:n.128-1195C>T|||||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA|4/4||ENST00000723567.1:n.390C>T||390|||||rs73166755||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||||||||||rs73166755|1307|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||||||||||rs73166755|4296|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||||||||||rs73166755|4595|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940088C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+4858C>T|||||||rs73166755||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27940088C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5226;gnomADv4_1_AC_joint_XX=2844;gnomADv4_1_AC_joint_XY=2382;gnomADv4_1_AF_grpmax_joint=0.0918367;gnomADv4_1_AF_joint=0.0343531;gnomADv4_1_AF_joint_XX=0.0365713;gnomADv4_1_AF_joint_XY=0.0320334;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=131;gnomADv4_1_nhomalt_joint_XX=75;gnomADv4_1_nhomalt_joint_XY=56;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27940235 chr22_27940235_C_A C A 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.893;CADD_Rawscore=0.264147;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+20690C>A|||||||rs957601||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+20690C>A|||||||rs957601||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+20690C>A|||||||rs957601||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+64C>A|||||||rs957601||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+64C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+20690C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+64C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+20690C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+20690C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+20690C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+64C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+17994C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+18057C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+5005C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||2/2|ENST00000723566.1:n.128-1048C>A|||||||rs957601||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||||||||||rs957601|44|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||||||||||rs957601|1454|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723569|lncRNA||||||||||rs957601|4443|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723570|lncRNA||||||||||rs957601|4742|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27940235C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+5005C>A|||||||rs957601||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27940235C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,ENST00000723569,ENST00000723570,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91991;gnomADv4_1_AC_joint_XX=46609;gnomADv4_1_AC_joint_XY=45382;gnomADv4_1_AF_grpmax_joint=0.781915;gnomADv4_1_AF_joint=0.605092;gnomADv4_1_AF_joint_XX=0.599874;gnomADv4_1_AF_joint_XY=0.610548;gnomADv4_1_AN_grpmax_joint=41470;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=29050;gnomADv4_1_nhomalt_joint_XX=14613;gnomADv4_1_nhomalt_joint_XY=14437;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27941251 chr22_27941251_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.502;CADD_Rawscore=0.088488;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+21706G>A|||||||rs34019116||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+21706G>A|||||||rs34019116||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+21706G>A|||||||rs34019116||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+1080G>A|||||||rs34019116||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|2||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+1080G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+21706G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+1080G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+21706G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+21706G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+21706G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+1080G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+19010G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+19073G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+6021G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||2/2|ENST00000723566.1:n.128-32G>A|||||||rs34019116||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||||||||||rs34019116|1060|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||||||||||rs34019116|2470|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27941251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+6021G>A|||||||rs34019116||1||EntrezGene|HGNC:29336|||||||||RefSeq||G|G|OK|||chr22:g.27941251G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5367;gnomADv4_1_AC_joint_XX=2821;gnomADv4_1_AC_joint_XY=2546;gnomADv4_1_AF_grpmax_joint=0.0612245;gnomADv4_1_AF_joint=0.0353134;gnomADv4_1_AF_joint_XX=0.0363119;gnomADv4_1_AF_joint_XY=0.0342693;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151982;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=128;gnomADv4_1_nhomalt_joint_XX=73;gnomADv4_1_nhomalt_joint_XY=55;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27941723 chr22_27941723_C_A C A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.095;CADD_Rawscore=-0.625769;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+22178C>A|||||||rs5762416||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+22178C>A|||||||rs5762416||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+22178C>A|||||||rs5762416||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+1552C>A|||||||rs5762416||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+1552C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+22178C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+1552C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+22178C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+22178C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+22178C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+1552C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+19482C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+19545C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+6493C>A|||||||rs5762416||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||||||||||rs5762416|93|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||||||||||rs5762416|1532|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723568|lncRNA||||||||||rs5762416|2942|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27941723C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+6493C>A|||||||rs5762416||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27941723C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,ENST00000723568,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91795;gnomADv4_1_AC_joint_XX=46526;gnomADv4_1_AC_joint_XY=45269;gnomADv4_1_AF_grpmax_joint=0.781891;gnomADv4_1_AF_joint=0.604232;gnomADv4_1_AF_joint_XX=0.599068;gnomADv4_1_AF_joint_XY=0.609634;gnomADv4_1_AN_grpmax_joint=41438;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=28951;gnomADv4_1_nhomalt_joint_XX=14572;gnomADv4_1_nhomalt_joint_XY=14379;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27944258 chr22_27944258_T_A T A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.046;CADD_Rawscore=-0.823302;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+24713T>A|||||||rs6005676||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+24713T>A|||||||rs6005676||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+24713T>A|||||||rs6005676||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+4087T>A|||||||rs6005676||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|2||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+4087T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+24713T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+4087T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+24713T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+24713T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+24713T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+4087T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+22017T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+22080T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+9028T>A|||||||rs6005676||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||||||||||rs6005676|2628|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||||||||||rs6005676|4067|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27944258T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+9028T>A|||||||rs6005676||1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK|||chr22:g.27944258T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11715;gnomADv4_1_AC_joint_XX=6129;gnomADv4_1_AC_joint_XY=5586;gnomADv4_1_AF_grpmax_joint=0.157653;gnomADv4_1_AF_joint=0.0882579;gnomADv4_1_AF_joint_XX=0.0895817;gnomADv4_1_AF_joint_XY=0.0868497;gnomADv4_1_AN_grpmax_joint=35984;gnomADv4_1_AN_joint=132736;gnomADv4_1_AN_joint_XX=68418;gnomADv4_1_AN_joint_XY=64318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=592;gnomADv4_1_nhomalt_joint_XX=297;gnomADv4_1_nhomalt_joint_XY=295;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27944890 chr22_27944890_C_G C G 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=6.075;CADD_Rawscore=0.560802;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+25345C>G|||||||rs779063591||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+25345C>G|||||||rs779063591||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+25345C>G|||||||rs779063591||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+4719C>G|||||||rs779063591||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+4719C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+25345C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+4719C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+25345C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+25345C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+25345C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+4719C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+22649C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+22712C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+9660C>G|||||||rs779063591||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||||||||||rs779063591|3260|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723567|lncRNA||||||||||rs779063591|4699|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27944890C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+9660C>G|||||||rs779063591||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27944890C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,ENST00000723567,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=130;gnomADv4_1_AC_joint_XX=60;gnomADv4_1_AC_joint_XY=70;gnomADv4_1_AF_grpmax_joint=0.000235239;gnomADv4_1_AF_joint=0.000854386;gnomADv4_1_AF_joint_XX=0.00077099;gnomADv4_1_AF_joint_XY=0.000941696;gnomADv4_1_AN_grpmax_joint=68016;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27945455 chr22_27945455_C_T C T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.094;CADD_Rawscore=0.005486;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+25910C>T|||||||rs5762418||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+25910C>T|||||||rs5762418||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+25910C>T|||||||rs5762418||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+5284C>T|||||||rs5762418||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+5284C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+25910C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+5284C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+25910C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+25910C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+25910C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+5284C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+23214C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+23277C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+10225C>T|||||||rs5762418||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||||||||||rs5762418|3825|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27945455C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+10225C>T|||||||rs5762418||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27945455C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88201;gnomADv4_1_AC_joint_XX=44627;gnomADv4_1_AC_joint_XY=43574;gnomADv4_1_AF_grpmax_joint=0.699705;gnomADv4_1_AF_joint=0.580591;gnomADv4_1_AF_joint_XX=0.574601;gnomADv4_1_AF_joint_XY=0.586855;gnomADv4_1_AN_grpmax_joint=41426;gnomADv4_1_AN_joint=151916;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26310;gnomADv4_1_nhomalt_joint_XX=13177;gnomADv4_1_nhomalt_joint_XY=13133;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27946411 chr22_27946411_CT_C CT C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.345;CADDIndel_Rawscore=-0.286197;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+11198del|||||||rs67850903||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+26883del|||||||rs67850903||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+26883del|||||||rs67850903||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+11198del|||||||rs67850903||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+11198del|||||||rs67850903||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+26883del|||||||rs67850903||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+6257del|||||||rs67850903||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+11198del|||||||rs67850903||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+11198del|||||||rs67850903||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+11198del|||||||rs67850903||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+11198del|||||||rs67850903||1||HGNC|HGNC:29336|2||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+11198del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+6257del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+26883del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+11198del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+6257del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+26883del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+26883del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+11198del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+26883del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+11198del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+11198del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+6257del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+11198del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+11198del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+11198del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+24187del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+24250del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+11198del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+11198del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+11198del|||||||rs67850903||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||16|chr22:g.27946428del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723566|lncRNA||||||||||rs67850903|4782|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27946428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+11198del|||||||rs67850903||1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK||16|chr22:g.27946428del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,ENST00000723566,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45736;gnomADv4_1_AC_joint_XX=23971;gnomADv4_1_AC_joint_XY=21765;gnomADv4_1_AF_grpmax_joint=0.453836;gnomADv4_1_AF_joint=0.386597;gnomADv4_1_AF_joint_XX=0.382471;gnomADv4_1_AF_joint_XY=0.391246;gnomADv4_1_AN_grpmax_joint=10506;gnomADv4_1_AN_joint=118304;gnomADv4_1_AN_joint_XX=62674;gnomADv4_1_AN_joint_XY=55630;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=5238;gnomADv4_1_nhomalt_joint_XX=2546;gnomADv4_1_nhomalt_joint_XY=2692;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27946964 chr22_27946964_CGTGT_C;chr22_27946964_CGT_C CGTGT C 25 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=.;AF_XY=0.5;AN=4;AN_XX=0;AN_XY=4;AQ=25;CADDIndel_PHREDscore=0.663;CADDIndel_Rawscore=-0.122467;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+11785_238+11788del|||||||rs57506112||1||HGNC|HGNC:29336|3||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+27470_145+27473del|||||||rs57506112||1||HGNC|HGNC:29336|1||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+27470_154+27473del|||||||rs57506112||1||HGNC|HGNC:29336|4||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+11785_358+11788del|||||||rs57506112||1||HGNC|HGNC:29336|3||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+11785_250+11788del|||||||rs57506112||1||HGNC|HGNC:29336|4||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+27470_158+27473del|||||||rs57506112||1||HGNC|HGNC:29336|3||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+6844_321+6847del|||||||rs57506112||1||HGNC|HGNC:29336|4||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+11785_135+11788del|||||||rs57506112||1||HGNC|HGNC:29336|3||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+11785_203+11788del|||||||rs57506112||1||HGNC|HGNC:29336|4||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+11785_205+11788del|||||||rs57506112||1||HGNC|HGNC:29336|1||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+11785_239+11788del|||||||rs57506112||1||HGNC|HGNC:29336|2||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+11785_317+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+6844_154+6847del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+27470_113+27473del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+11785_203+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+6844_461+6847del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+27470_117+27473del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+27470_80+27473del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+11785_203+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+27470_108+27473del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+11785_142+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+11785_190+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+6844_352+6847del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+11785_317+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+11785_158+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+11785_289+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+24774_333+24777del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+24837_241+24840del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+11785_354+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+11785_193+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+11785_321+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GTGT|GTGT|||50|chr22:g.27947015_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+11785_250+11788del|||||||rs57506112||1||EntrezGene|HGNC:29336|||||||||RefSeq||GTGT|GTGT|OK||50|chr22:g.27947015_27947018del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22050;gnomADv4_1_AC_joint_XX=11541;gnomADv4_1_AC_joint_XY=10509;gnomADv4_1_AF_grpmax_joint=0.19243;gnomADv4_1_AF_joint=0.173387;gnomADv4_1_AF_joint_XX=0.173122;gnomADv4_1_AF_joint_XY=0.17368;gnomADv4_1_AN_grpmax_joint=12602;gnomADv4_1_AN_joint=127172;gnomADv4_1_AN_joint_XX=66664;gnomADv4_1_AN_joint_XY=60508;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1752;gnomADv4_1_nhomalt_joint_XX=886;gnomADv4_1_nhomalt_joint_XY=866;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27946964 chr22_27946964_CGTGT_C;chr22_27946964_CGT_C CGT C 25 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=14;CADDIndel_PHREDscore=0.678;CADDIndel_Rawscore=-0.116989;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+11787_238+11788del|||||||rs57506112||1||HGNC|HGNC:29336|3||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.145+27472_145+27473del|||||||rs57506112||1||HGNC|HGNC:29336|1||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+27472_154+27473del|||||||rs57506112||1||HGNC|HGNC:29336|4||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+11787_358+11788del|||||||rs57506112||1||HGNC|HGNC:29336|3||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+11787_250+11788del|||||||rs57506112||1||HGNC|HGNC:29336|4||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+27472_158+27473del|||||||rs57506112||1||HGNC|HGNC:29336|3||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+6846_321+6847del|||||||rs57506112||1||HGNC|HGNC:29336|4||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+11787_135+11788del|||||||rs57506112||1||HGNC|HGNC:29336|3||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+11787_203+11788del|||||||rs57506112||1||HGNC|HGNC:29336|4||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+11787_205+11788del|||||||rs57506112||1||HGNC|HGNC:29336|1||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+11787_239+11788del|||||||rs57506112||1||HGNC|HGNC:29336|2||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+11787_317+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+6846_154+6847del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+27472_113+27473del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+11787_203+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+6846_461+6847del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+27472_117+27473del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+27472_80+27473del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+11787_203+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+27472_108+27473del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+11787_142+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+11787_190+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+6846_352+6847del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+11787_317+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+11787_158+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+11787_289+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+24776_333+24777del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+24839_241+24840del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+11787_354+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+11787_193+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+11787_321+11788del|||||||rs57506112||1||HGNC|HGNC:29336|||||||||Ensembl||GT|GT|||52|chr22:g.27947017_27947018del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+11787_250+11788del|||||||rs57506112||1||EntrezGene|HGNC:29336|||||||||RefSeq||GT|GT|OK||52|chr22:g.27947017_27947018del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39163;gnomADv4_1_AC_joint_XX=20929;gnomADv4_1_AC_joint_XY=18234;gnomADv4_1_AF_grpmax_joint=0.386555;gnomADv4_1_AF_joint=0.30872;gnomADv4_1_AF_joint_XX=0.314722;gnomADv4_1_AF_joint_XY=0.302107;gnomADv4_1_AN_grpmax_joint=238;gnomADv4_1_AN_joint=126856;gnomADv4_1_AN_joint_XX=66500;gnomADv4_1_AN_joint_XY=60356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5541;gnomADv4_1_nhomalt_joint_XX=2950;gnomADv4_1_nhomalt_joint_XY=2591;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27952845 chr22_27952845_G_A G A 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=1.774;CADD_Rawscore=0.132294;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-32847G>A|||||||rs5997325||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+33300G>A|||||||rs5997325||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+33300G>A|||||||rs5997325||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+12674G>A|||||||rs5997325||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|2||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+12674G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+33300G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+12674G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+33300G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+33300G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+33300G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+12674G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+30604G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+30667G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+17615G>A|||||||rs5997325||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27952845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+17615G>A|||||||rs5997325||1||EntrezGene|HGNC:29336|||||||||RefSeq||G|G|OK|||chr22:g.27952845G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45851;gnomADv4_1_AC_joint_XX=23083;gnomADv4_1_AC_joint_XY=22768;gnomADv4_1_AF_grpmax_joint=0.437597;gnomADv4_1_AF_joint=0.301572;gnomADv4_1_AF_joint_XX=0.297101;gnomADv4_1_AF_joint_XY=0.306244;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7216;gnomADv4_1_nhomalt_joint_XX=3570;gnomADv4_1_nhomalt_joint_XY=3646;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27953839 chr22_27953839_C_G C G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.79;CADD_Rawscore=-0.078202;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-31853C>G|||||||rs5752667||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+34294C>G|||||||rs5752667||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+34294C>G|||||||rs5752667||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+13668C>G|||||||rs5752667||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.317+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+13668C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+34294C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+13668C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+34294C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+34294C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+34294C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+13668C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.333+31598C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.241+31661C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.321+18609C>G|||||||rs5752667||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27953839C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+18609C>G|||||||rs5752667||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27953839C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88172;gnomADv4_1_AC_joint_XX=44617;gnomADv4_1_AC_joint_XY=43555;gnomADv4_1_AF_grpmax_joint=0.699575;gnomADv4_1_AF_joint=0.58027;gnomADv4_1_AF_joint_XX=0.574354;gnomADv4_1_AF_joint_XY=0.586457;gnomADv4_1_AN_grpmax_joint=41448;gnomADv4_1_AN_joint=151950;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26298;gnomADv4_1_nhomalt_joint_XX=13175;gnomADv4_1_nhomalt_joint_XY=13123;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27956058 chr22_27956058_G_A G A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=6.334;CADD_Rawscore=0.587384;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+20828G>A|||||||rs73166765||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-29634G>A|||||||rs73166765||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+36513G>A|||||||rs73166765||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+20828G>A|||||||rs73166765||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+20828G>A|||||||rs73166765||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.158+36513G>A|||||||rs73166765||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+15887G>A|||||||rs73166765||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+20828G>A|||||||rs73166765||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+20828G>A|||||||rs73166765||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+20828G>A|||||||rs73166765||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+20828G>A|||||||rs73166765||1||HGNC|HGNC:29336|2||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.318-16463G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+15887G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+36513G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+20828G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+15887G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+36513G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+36513G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+20828G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.108+36513G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+20828G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+20828G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+15887G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+20828G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+20828G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+20828G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-29634G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-29634G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.354+20828G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.193+20828G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.322-16463G>A|||||||rs73166765||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956058G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+20828G>A|||||||rs73166765||1||EntrezGene|HGNC:29336|||||||||RefSeq||G|G|OK|||chr22:g.27956058G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5217;gnomADv4_1_AC_joint_XX=2839;gnomADv4_1_AC_joint_XY=2378;gnomADv4_1_AF_grpmax_joint=0.0918367;gnomADv4_1_AF_joint=0.0343355;gnomADv4_1_AF_joint_XX=0.0365323;gnomADv4_1_AF_joint_XY=0.0320356;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151942;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=128;gnomADv4_1_nhomalt_joint_XX=73;gnomADv4_1_nhomalt_joint_XY=55;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27956874 chr22_27956874_CAAAA_C CAAAA C 22 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=22;CADDIndel_PHREDscore=0.599;CADDIndel_Rawscore=-0.148071;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+21664_238+21667del|||||||rs781444634||1||HGNC|HGNC:29336|3||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-28798_146-28795del|||||||rs781444634||1||HGNC|HGNC:29336|1||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+37349_154+37352del|||||||rs781444634||1||HGNC|HGNC:29336|4||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+21664_358+21667del|||||||rs781444634||1||HGNC|HGNC:29336|3||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+21664_250+21667del|||||||rs781444634||1||HGNC|HGNC:29336|4||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-36230_159-36227del|||||||rs781444634||1||HGNC|HGNC:29336|3||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+16723_321+16726del|||||||rs781444634||1||HGNC|HGNC:29336|4||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+21664_135+21667del|||||||rs781444634||1||HGNC|HGNC:29336|3||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+21664_203+21667del|||||||rs781444634||1||HGNC|HGNC:29336|4||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+21664_205+21667del|||||||rs781444634||1||HGNC|HGNC:29336|1||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+21664_239+21667del|||||||rs781444634||1||HGNC|HGNC:29336|2||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.318-15627_318-15624del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+16723_154+16726del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+37349_113+37352del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+21664_203+21667del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+16723_461+16726del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+37349_117+37352del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+37349_80+37352del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+21664_203+21667del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-36230_109-36227del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+21664_142+21667del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+21664_190+21667del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+16723_352+16726del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+21664_317+21667del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+21664_158+21667del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+21664_289+21667del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-28798_334-28795del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-28798_242-28795del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-21541_355-21538del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-21541_194-21538del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.322-15627_322-15624del|||||||rs781444634||1||HGNC|HGNC:29336|||||||||Ensembl||AAAA|AAAA|||19|chr22:g.27956894_27956897del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+21664_250+21667del|||||||rs781444634||1||EntrezGene|HGNC:29336|||||||||RefSeq||AAAA|AAAA|OK||19|chr22:g.27956894_27956897del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7;gnomADv4_1_AC_joint_XX=4;gnomADv4_1_AC_joint_XY=3;gnomADv4_1_AF_grpmax_joint=0.000147377;gnomADv4_1_AF_joint=0.000194099;gnomADv4_1_AF_joint_XX=0.000200803;gnomADv4_1_AF_joint_XY=0.000185828;gnomADv4_1_AN_grpmax_joint=20356;gnomADv4_1_AN_joint=36064;gnomADv4_1_AN_joint_XX=19920;gnomADv4_1_AN_joint_XY=16144;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27956898 chr22_27956898_G_A G A 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=27;CADD_PHREDscore=0.933;CADD_Rawscore=-0.035755;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+21668G>A|||||||rs67433561||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-28794G>A|||||||rs67433561||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.154+37353G>A|||||||rs67433561||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+21668G>A|||||||rs67433561||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+21668G>A|||||||rs67433561||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-36226G>A|||||||rs67433561||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+16727G>A|||||||rs67433561||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+21668G>A|||||||rs67433561||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+21668G>A|||||||rs67433561||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+21668G>A|||||||rs67433561||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+21668G>A|||||||rs67433561||1||HGNC|HGNC:29336|2||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.318-15623G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+16727G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.113+37353G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+21668G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+16727G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+37353G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+37353G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+21668G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-36226G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+21668G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+21668G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+16727G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+21668G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+21668G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+21668G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-28794G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-28794G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-21537G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-21537G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.322-15623G>A|||||||rs67433561||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27956898G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+21668G>A|||||||rs67433561||1||EntrezGene|HGNC:29336|||||||||RefSeq||G|G|OK|||chr22:g.27956898G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36075;gnomADv4_1_AC_joint_XX=19059;gnomADv4_1_AC_joint_XY=17016;gnomADv4_1_AF_grpmax_joint=0.468848;gnomADv4_1_AF_joint=0.322438;gnomADv4_1_AF_joint_XX=0.319492;gnomADv4_1_AF_joint_XY=0.325802;gnomADv4_1_AN_grpmax_joint=3820;gnomADv4_1_AN_joint=111882;gnomADv4_1_AN_joint_XX=59654;gnomADv4_1_AN_joint_XY=52228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5339;gnomADv4_1_nhomalt_joint_XX=2791;gnomADv4_1_nhomalt_joint_XY=2548;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27957003 chr22_27957003_A_ATT A ATT 19 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=19;CADDIndel_PHREDscore=0.595;CADDIndel_Rawscore=-0.149828;CSQ=TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+21793_238+21794dup|||||||rs376961592||1||HGNC|HGNC:29336|3||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-28669_146-28668dup|||||||rs376961592||1||HGNC|HGNC:29336|1||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-37450_155-37449dup|||||||rs376961592||1||HGNC|HGNC:29336|4||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+21793_358+21794dup|||||||rs376961592||1||HGNC|HGNC:29336|3||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+21793_250+21794dup|||||||rs376961592||1||HGNC|HGNC:29336|4||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-36101_159-36100dup|||||||rs376961592||1||HGNC|HGNC:29336|3||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+16852_321+16853dup|||||||rs376961592||1||HGNC|HGNC:29336|4||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+21793_135+21794dup|||||||rs376961592||1||HGNC|HGNC:29336|3||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+21793_203+21794dup|||||||rs376961592||1||HGNC|HGNC:29336|4||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+21793_205+21794dup|||||||rs376961592||1||HGNC|HGNC:29336|1||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+21793_239+21794dup|||||||rs376961592||1||HGNC|HGNC:29336|2||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.318-15498_318-15497dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+16852_154+16853dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-37450_114-37449dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+21793_203+21794dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+16852_461+16853dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+37478_117+37479dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+37478_80+37479dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+21793_203+21794dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-36101_109-36100dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+21793_142+21794dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+21793_190+21794dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+16852_352+16853dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+21793_317+21794dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+21793_158+21794dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+21793_289+21794dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-28669_334-28668dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-28669_242-28668dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-21412_355-21411dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-21412_194-21411dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.322-15498_322-15497dup|||||||rs376961592||1||HGNC|HGNC:29336|||||||||Ensembl||||||21|chr22:g.27957023_27957024dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+21793_250+21794dup|||||||rs376961592||1||EntrezGene|HGNC:29336|||||||||RefSeq||||OK||21|chr22:g.27957023_27957024dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34147;gnomADv4_1_AC_joint_XX=18657;gnomADv4_1_AC_joint_XY=15490;gnomADv4_1_AF_grpmax_joint=0.441783;gnomADv4_1_AF_joint=0.325104;gnomADv4_1_AF_joint_XX=0.328422;gnomADv4_1_AF_joint_XY=0.321196;gnomADv4_1_AN_grpmax_joint=3590;gnomADv4_1_AN_joint=105034;gnomADv4_1_AN_joint_XX=56808;gnomADv4_1_AN_joint_XY=48226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6863;gnomADv4_1_nhomalt_joint_XX=3701;gnomADv4_1_nhomalt_joint_XY=3162;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27958431 chr22_27958431_T_C T C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.534;CADD_Rawscore=-0.176658;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+23201T>C|||||||rs73425788||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-27261T>C|||||||rs73425788||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-36042T>C|||||||rs73425788||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+23201T>C|||||||rs73425788||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+23201T>C|||||||rs73425788||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-34693T>C|||||||rs73425788||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+18260T>C|||||||rs73425788||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+23201T>C|||||||rs73425788||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+23201T>C|||||||rs73425788||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+23201T>C|||||||rs73425788||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+23201T>C|||||||rs73425788||1||HGNC|HGNC:29336|2||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.318-14090T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+18260T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-36042T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+23201T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+18260T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.117+38886T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.80+38886T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+23201T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-34693T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+23201T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+23201T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+18260T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+23201T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+23201T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+23201T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-27261T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-27261T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-20004T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-20004T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.322-14090T>C|||||||rs73425788||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27958431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+23201T>C|||||||rs73425788||1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK|||chr22:g.27958431T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=86478;gnomADv4_1_AC_joint_XX=43911;gnomADv4_1_AC_joint_XY=42567;gnomADv4_1_AF_grpmax_joint=0.7005;gnomADv4_1_AF_joint=0.581162;gnomADv4_1_AF_joint_XX=0.574781;gnomADv4_1_AF_joint_XY=0.587893;gnomADv4_1_AN_grpmax_joint=40374;gnomADv4_1_AN_joint=148802;gnomADv4_1_AN_joint_XX=76396;gnomADv4_1_AN_joint_XY=72406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25786;gnomADv4_1_nhomalt_joint_XX=12947;gnomADv4_1_nhomalt_joint_XY=12839;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27958771 chr22_27958771_A_AT A AT 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.471;CADDIndel_Rawscore=-0.207874;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+23547dup|||||||rs563441638||1||HGNC|HGNC:29336|3||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-26915dup|||||||rs563441638||1||HGNC|HGNC:29336|1||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-35696dup|||||||rs563441638||1||HGNC|HGNC:29336|4||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.358+23547dup|||||||rs563441638||1||HGNC|HGNC:29336|3||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+23547dup|||||||rs563441638||1||HGNC|HGNC:29336|4||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-34347dup|||||||rs563441638||1||HGNC|HGNC:29336|3||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+18606dup|||||||rs563441638||1||HGNC|HGNC:29336|4||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+23547dup|||||||rs563441638||1||HGNC|HGNC:29336|3||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+23547dup|||||||rs563441638||1||HGNC|HGNC:29336|4||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+23547dup|||||||rs563441638||1||HGNC|HGNC:29336|1||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.239+23547dup|||||||rs563441638||1||HGNC|HGNC:29336|2||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.318-13744dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+18606dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-35696dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+23547dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+18606dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-38634dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-38634dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+23547dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-34347dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+23547dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+23547dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+18606dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+23547dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+23547dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+23547dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-26915dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-26915dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-19658dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-19658dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.322-13744dup|||||||rs563441638||1||HGNC|HGNC:29336|||||||||Ensembl||||||6|chr22:g.27958777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+23547dup|||||||rs563441638||1||EntrezGene|HGNC:29336|||||||||RefSeq||||OK||6|chr22:g.27958777dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1029;gnomADv4_1_AC_joint_XX=555;gnomADv4_1_AC_joint_XY=474;gnomADv4_1_AF_grpmax_joint=0.0612245;gnomADv4_1_AF_joint=0.00678339;gnomADv4_1_AF_joint_XX=0.00715151;gnomADv4_1_AF_joint_XY=0.0063978;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151694;gnomADv4_1_AN_joint_XX=77606;gnomADv4_1_AN_joint_XY=74088;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=10;gnomADv4_1_nhomalt_joint_XX=8;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27960586 chr22_27960586_A_G A G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.55;CADD_Rawscore=0.096805;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+25356A>G|||||||rs112344488||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-25106A>G|||||||rs112344488||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-33887A>G|||||||rs112344488||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-25106A>G|||||||rs112344488||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.250+25356A>G|||||||rs112344488||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-32538A>G|||||||rs112344488||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+20415A>G|||||||rs112344488||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+25356A>G|||||||rs112344488||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+25356A>G|||||||rs112344488||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+25356A>G|||||||rs112344488||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-25106A>G|||||||rs112344488||1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.318-11935A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.154+20415A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-33887A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+25356A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.461+20415A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-36825A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-36825A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+25356A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-32538A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+25356A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.190+25356A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.352+20415A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+25356A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.158+25356A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.289+25356A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-25106A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-25106A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-17849A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-17849A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.322-11935A>G|||||||rs112344488||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27960586A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+25356A>G|||||||rs112344488||1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27960586A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=605;gnomADv4_1_AC_joint_XX=338;gnomADv4_1_AC_joint_XY=267;gnomADv4_1_AF_grpmax_joint=0.0308219;gnomADv4_1_AF_joint=0.00397112;gnomADv4_1_AF_joint_XX=0.00434191;gnomADv4_1_AF_joint_XY=0.0035837;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152350;gnomADv4_1_AN_joint_XX=77846;gnomADv4_1_AN_joint_XY=74504;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27962958 chr22_27962958_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.521;CADD_Rawscore=-0.182691;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+27728A>G|||||||rs5762423||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-22734A>G|||||||rs5762423||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-31515A>G|||||||rs5762423||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-22734A>G|||||||rs5762423||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-26924A>G|||||||rs5762423||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-30166A>G|||||||rs5762423||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+22787A>G|||||||rs5762423||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+27728A>G|||||||rs5762423||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+27728A>G|||||||rs5762423||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+27728A>G|||||||rs5762423||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-22734A>G|||||||rs5762423||1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.318-9563A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-22734A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-31515A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+27728A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-22734A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-34453A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-34453A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+27728A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-30166A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+27728A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-26924A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-22734A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+27728A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-26847A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-26924A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-22734A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-22734A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-15477A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-15477A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.322-9563A>G|||||||rs5762423||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27962958A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+27728A>G|||||||rs5762423||1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27962958A>G|||1||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7JSJ|enhancer||||||||||rs5762423|||||||||||||||||||||chr22:g.27962958A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1,ENSR22_B7JSJ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900,.;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=147086;gnomADv4_1_AC_joint_XX=75050;gnomADv4_1_AC_joint_XY=72036;gnomADv4_1_AF_grpmax_joint=0.998835;gnomADv4_1_AF_joint=0.966019;gnomADv4_1_AF_joint_XX=0.964455;gnomADv4_1_AF_joint_XY=0.967654;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152260;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=71088;gnomADv4_1_nhomalt_joint_XX=36220;gnomADv4_1_nhomalt_joint_XY=34868;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27963847 chr22_27963847_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.954;CADD_Rawscore=-0.02996;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+28617G>A|||||||rs9613551||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-21845G>A|||||||rs9613551||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-30626G>A|||||||rs9613551||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-21845G>A|||||||rs9613551||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-26035G>A|||||||rs9613551||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-29277G>A|||||||rs9613551||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+23676G>A|||||||rs9613551||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+28617G>A|||||||rs9613551||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+28617G>A|||||||rs9613551||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+28617G>A|||||||rs9613551||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-21845G>A|||||||rs9613551||1||HGNC|HGNC:29336|2||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.318-8674G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-21845G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-30626G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+28617G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-21845G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-33564G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-33564G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+28617G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-29277G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+28617G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-26035G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-21845G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+28617G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-25958G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-26035G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-21845G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-21845G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-14588G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-14588G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.322-8674G>A|||||||rs9613551||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27963847G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+28617G>A|||||||rs9613551||1||EntrezGene|HGNC:29336|||||||||RefSeq||G|G|OK|||chr22:g.27963847G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5001;gnomADv4_1_AC_joint_XX=2517;gnomADv4_1_AC_joint_XY=2484;gnomADv4_1_AF_grpmax_joint=0.0475784;gnomADv4_1_AF_joint=0.032846;gnomADv4_1_AF_joint_XX=0.0323455;gnomADv4_1_AF_joint_XY=0.0333692;gnomADv4_1_AN_grpmax_joint=68014;gnomADv4_1_AN_joint=152256;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=152;gnomADv4_1_nhomalt_joint_XX=72;gnomADv4_1_nhomalt_joint_XY=80;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27964144 chr22_27964144_G_T G T 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.669;CADD_Rawscore=-0.120402;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+28914G>T|||||||rs34017491||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-21548G>T|||||||rs34017491||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-30329G>T|||||||rs34017491||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-21548G>T|||||||rs34017491||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-25738G>T|||||||rs34017491||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-28980G>T|||||||rs34017491||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+23973G>T|||||||rs34017491||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+28914G>T|||||||rs34017491||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+28914G>T|||||||rs34017491||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.205+28914G>T|||||||rs34017491||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-21548G>T|||||||rs34017491||1||HGNC|HGNC:29336|2||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.318-8377G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-21548G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-30329G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+28914G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-21548G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-33267G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-33267G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.203+28914G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-28980G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.142+28914G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-25738G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-21548G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+28914G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-25661G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-25738G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-21548G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-21548G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-14291G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-14291G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.322-8377G>T|||||||rs34017491||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27964144G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.250+28914G>T|||||||rs34017491||1||EntrezGene|HGNC:29336|||||||||RefSeq||G|G|OK|||chr22:g.27964144G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9412;gnomADv4_1_AC_joint_XX=4895;gnomADv4_1_AC_joint_XY=4517;gnomADv4_1_AF_grpmax_joint=0.119048;gnomADv4_1_AF_joint=0.0618437;gnomADv4_1_AF_joint_XX=0.0629242;gnomADv4_1_AF_joint_XY=0.060714;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152190;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=320;gnomADv4_1_nhomalt_joint_XX=175;gnomADv4_1_nhomalt_joint_XY=145;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27965030 chr22_27965030_AT_A AT A 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=19;CADDIndel_PHREDscore=0.216;CADDIndel_Rawscore=-0.406801;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.238+29821del|||||||rs61408739||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-20641del|||||||rs61408739||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-29422del|||||||rs61408739||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-20641del|||||||rs61408739||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-24831del|||||||rs61408739||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-28073del|||||||rs61408739||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+24880del|||||||rs61408739||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.135+29821del|||||||rs61408739||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.203+29821del|||||||rs61408739||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-29422del|||||||rs61408739||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-20641del|||||||rs61408739||1||HGNC|HGNC:29336|2||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.318-7470del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-20641del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-29422del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.203+29821del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-20641del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-32360del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-32360del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-29422del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-28073del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-28073del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-24831del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-20641del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.317+29821del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-24754del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-24831del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-20641del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-20641del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-13384del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-13384del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.322-7470del|||||||rs61408739||1||HGNC|HGNC:29336|||||||||Ensembl||T|T|||20|chr22:g.27965051del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-29422del|||||||rs61408739||1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK||20|chr22:g.27965051del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8013;gnomADv4_1_AC_joint_XX=4484;gnomADv4_1_AC_joint_XY=3529;gnomADv4_1_AF_grpmax_joint=0.0769482;gnomADv4_1_AF_joint=0.0677598;gnomADv4_1_AF_joint_XX=0.0720576;gnomADv4_1_AF_joint_XY=0.0629864;gnomADv4_1_AN_grpmax_joint=58286;gnomADv4_1_AN_joint=118256;gnomADv4_1_AN_joint_XX=62228;gnomADv4_1_AN_joint_XY=56028;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=127;gnomADv4_1_nhomalt_joint_XX=75;gnomADv4_1_nhomalt_joint_XY=52;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27968466 chr22_27968466_A_G A G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.259;CADD_Rawscore=-0.359734;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-28945A>G|||||||rs5752670||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-17226A>G|||||||rs5752670||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-26007A>G|||||||rs5752670||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-17226A>G|||||||rs5752670||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-21416A>G|||||||rs5752670||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-24658A>G|||||||rs5752670||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.321+28295A>G|||||||rs5752670||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-28945A>G|||||||rs5752670||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-28945A>G|||||||rs5752670||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-26007A>G|||||||rs5752670||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-17226A>G|||||||rs5752670||1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.318-4055A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-17226A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-26007A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-28945A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-17226A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-28945A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-28945A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-26007A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-24658A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-24658A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-21416A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-17226A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-28945A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-21339A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-21416A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-17226A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-17226A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-9969A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-9969A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.322-4055A>G|||||||rs5752670||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27968466A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-26007A>G|||||||rs5752670||1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27968466A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15333;gnomADv4_1_AC_joint_XX=7761;gnomADv4_1_AC_joint_XY=7572;gnomADv4_1_AF_grpmax_joint=0.204082;gnomADv4_1_AF_joint=0.100686;gnomADv4_1_AF_joint_XX=0.0997225;gnomADv4_1_AF_joint_XY=0.101692;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152286;gnomADv4_1_AN_joint_XX=77826;gnomADv4_1_AN_joint_XY=74460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=839;gnomADv4_1_nhomalt_joint_XX=406;gnomADv4_1_nhomalt_joint_XY=433;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27969850 chr22_27969850_T_C T C 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=4.221;CADD_Rawscore=0.384851;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-27561T>C|||||||rs1243946827||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-15842T>C|||||||rs1243946827||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-24623T>C|||||||rs1243946827||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-15842T>C|||||||rs1243946827||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-20032T>C|||||||rs1243946827||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-23274T>C|||||||rs1243946827||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-27561T>C|||||||rs1243946827||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-27561T>C|||||||rs1243946827||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-27561T>C|||||||rs1243946827||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-24623T>C|||||||rs1243946827||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-15842T>C|||||||rs1243946827||1||HGNC|HGNC:29336|2||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.318-2671T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-15842T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-24623T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-27561T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-15842T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-27561T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-27561T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-24623T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-23274T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-23274T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-20032T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-15842T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-27561T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-19955T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-20032T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-15842T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-15842T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-8585T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-8585T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.322-2671T>C|||||||rs1243946827||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27969850T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-24623T>C|||||||rs1243946827||1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK|||chr22:g.27969850T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5;gnomADv4_1_AC_joint_XX=2;gnomADv4_1_AC_joint_XY=3;gnomADv4_1_AF_joint=3.2842e-05;gnomADv4_1_AF_joint_XX=2.56865e-05;gnomADv4_1_AF_joint_XY=4.03323e-05;gnomADv4_1_AN_joint=152244;gnomADv4_1_AN_joint_XX=77862;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27970979 chr22_27970979_A_G A G 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.045;CADD_Rawscore=0.27879;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-26432A>G|||||||rs5752671||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-14713A>G|||||||rs5752671||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-23494A>G|||||||rs5752671||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-14713A>G|||||||rs5752671||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-18903A>G|||||||rs5752671||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-22145A>G|||||||rs5752671||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-26432A>G|||||||rs5752671||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-26432A>G|||||||rs5752671||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-26432A>G|||||||rs5752671||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-23494A>G|||||||rs5752671||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-14713A>G|||||||rs5752671||1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.318-1542A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-14713A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-23494A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-26432A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-14713A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-26432A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-26432A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-23494A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-22145A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-22145A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-18903A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-14713A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-26432A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-18826A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-18903A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-14713A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-14713A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-7456A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-7456A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.322-1542A>G|||||||rs5752671||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27970979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-23494A>G|||||||rs5752671||1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27970979A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9919;gnomADv4_1_AC_joint_XX=5029;gnomADv4_1_AC_joint_XY=4890;gnomADv4_1_AF_grpmax_joint=0.164355;gnomADv4_1_AF_joint=0.0651392;gnomADv4_1_AF_joint_XX=0.0646202;gnomADv4_1_AF_joint_XY=0.0656817;gnomADv4_1_AN_grpmax_joint=5190;gnomADv4_1_AN_joint=152274;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=398;gnomADv4_1_nhomalt_joint_XX=199;gnomADv4_1_nhomalt_joint_XY=199;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27971703 chr22_27971703_T_TTA T TTA 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=1.179;CADDIndel_Rawscore=0.024907;CSQ=TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-25696_239-25695dup|||||||rs10652836||1||HGNC|HGNC:29336|3||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-13977_146-13976dup|||||||rs10652836||1||HGNC|HGNC:29336|1||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-22758_155-22757dup|||||||rs10652836||1||HGNC|HGNC:29336|4||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-13977_359-13976dup|||||||rs10652836||1||HGNC|HGNC:29336|3||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-18167_251-18166dup|||||||rs10652836||1||HGNC|HGNC:29336|4||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-21409_159-21408dup|||||||rs10652836||1||HGNC|HGNC:29336|3||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-25696_322-25695dup|||||||rs10652836||1||HGNC|HGNC:29336|4||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-25696_136-25695dup|||||||rs10652836||1||HGNC|HGNC:29336|3||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-25696_204-25695dup|||||||rs10652836||1||HGNC|HGNC:29336|4||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-22758_206-22757dup|||||||rs10652836||1||HGNC|HGNC:29336|1||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-13977_240-13976dup|||||||rs10652836||1||HGNC|HGNC:29336|2||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.318-806_318-805dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-13977_155-13976dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-22758_114-22757dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-25696_204-25695dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-13977_462-13976dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-25696_118-25695dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-25696_81-25695dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-22758_204-22757dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-21409_109-21408dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-21409_143-21408dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-18167_191-18166dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-13977_353-13976dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-25696_318-25695dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-18090_159-18089dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-18167_290-18166dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-13977_334-13976dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-13977_242-13976dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-6720_355-6719dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-6720_194-6719dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.322-806_322-805dup|||||||rs10652836||1||HGNC|HGNC:29336|||||||||Ensembl||||||13|chr22:g.27971715_27971716dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-22758_251-22757dup|||||||rs10652836||1||EntrezGene|HGNC:29336|||||||||RefSeq||||OK||13|chr22:g.27971715_27971716dup|||||||||||||;TYPE=INDEL;VEP_Allele=TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=63332;gnomADv4_1_AC_joint_XX=32349;gnomADv4_1_AC_joint_XY=30983;gnomADv4_1_AF_grpmax_joint=0.624516;gnomADv4_1_AF_joint=0.50955;gnomADv4_1_AF_joint_XX=0.505232;gnomADv4_1_AF_joint_XY=0.514138;gnomADv4_1_AN_grpmax_joint=4650;gnomADv4_1_AN_joint=124290;gnomADv4_1_AN_joint_XX=64028;gnomADv4_1_AN_joint_XY=60262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14154;gnomADv4_1_nhomalt_joint_XX=7197;gnomADv4_1_nhomalt_joint_XY=6957;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27971718 chr22_27971718_TTA_T TTA T 46 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.482;CADDIndel_Rawscore=-0.202149;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-25680_239-25679del|||||||rs4036492||1||HGNC|HGNC:29336|3||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-13961_146-13960del|||||||rs4036492||1||HGNC|HGNC:29336|1||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-22742_155-22741del|||||||rs4036492||1||HGNC|HGNC:29336|4||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-13961_359-13960del|||||||rs4036492||1||HGNC|HGNC:29336|3||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-18151_251-18150del|||||||rs4036492||1||HGNC|HGNC:29336|4||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-21393_159-21392del|||||||rs4036492||1||HGNC|HGNC:29336|3||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-25680_322-25679del|||||||rs4036492||1||HGNC|HGNC:29336|4||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-25680_136-25679del|||||||rs4036492||1||HGNC|HGNC:29336|3||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-25680_204-25679del|||||||rs4036492||1||HGNC|HGNC:29336|4||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-22742_206-22741del|||||||rs4036492||1||HGNC|HGNC:29336|1||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-13961_240-13960del|||||||rs4036492||1||HGNC|HGNC:29336|2||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.318-790_318-789del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-13961_155-13960del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-22742_114-22741del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-25680_204-25679del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-13961_462-13960del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-25680_118-25679del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-25680_81-25679del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-22742_204-22741del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-21393_109-21392del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-21393_143-21392del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-18151_191-18150del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-13961_353-13960del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-25680_318-25679del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-18074_159-18073del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-18151_290-18150del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-13961_334-13960del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-13961_242-13960del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-6704_355-6703del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-6704_194-6703del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.322-790_322-789del|||||||rs4036492||1||HGNC|HGNC:29336|||||||||Ensembl||TA|TA|||12|chr22:g.27971731_27971732del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-22742_251-22741del|||||||rs4036492||1||EntrezGene|HGNC:29336|||||||||RefSeq||TA|TA|OK||12|chr22:g.27971731_27971732del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=142340;gnomADv4_1_AC_joint_XX=72833;gnomADv4_1_AC_joint_XY=69507;gnomADv4_1_AF_grpmax_joint=0.998628;gnomADv4_1_AF_joint=0.969341;gnomADv4_1_AF_joint_XX=0.967007;gnomADv4_1_AF_joint_XY=0.9718;gnomADv4_1_AN_grpmax_joint=5102;gnomADv4_1_AN_joint=146842;gnomADv4_1_AN_joint_XX=75318;gnomADv4_1_AN_joint_XY=71524;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=68923;gnomADv4_1_nhomalt_joint_XX=35175;gnomADv4_1_nhomalt_joint_XY=33748;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27972485 chr22_27972485_T_C T C 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.028;CADD_Rawscore=-0.959877;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-24926T>C|||||||rs2038158||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-13207T>C|||||||rs2038158||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-21988T>C|||||||rs2038158||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-13207T>C|||||||rs2038158||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-17397T>C|||||||rs2038158||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-20639T>C|||||||rs2038158||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-24926T>C|||||||rs2038158||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-24926T>C|||||||rs2038158||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-24926T>C|||||||rs2038158||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-21988T>C|||||||rs2038158||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-13207T>C|||||||rs2038158||1||HGNC|HGNC:29336|2||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||3/3|ENST00000654553.1:n.318-36T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-13207T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-21988T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-24926T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-13207T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-24926T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-24926T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-21988T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-20639T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-20639T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-17397T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-13207T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-24926T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-17320T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-17397T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-13207T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-13207T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-5950T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-5950T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||3/4|ENST00000723565.1:n.322-36T>C|||||||rs2038158||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27972485T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-21988T>C|||||||rs2038158||1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK|||chr22:g.27972485T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NR_026963.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,284900;VEP_SYMBOL=TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87896;gnomADv4_1_AC_joint_XX=44507;gnomADv4_1_AC_joint_XY=43389;gnomADv4_1_AF_grpmax_joint=0.692464;gnomADv4_1_AF_joint=0.578987;gnomADv4_1_AF_joint_XX=0.573219;gnomADv4_1_AF_joint_XY=0.585025;gnomADv4_1_AN_grpmax_joint=41374;gnomADv4_1_AN_joint=151810;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74166;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26159;gnomADv4_1_nhomalt_joint_XX=13112;gnomADv4_1_nhomalt_joint_XY=13047;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27974584 chr22_27974584_C_G C G 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.083;CADD_Rawscore=0.002992;CSQ=G|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||||||||||rs5752672|3430|-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-22827C>G|||||||rs5752672||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-11108C>G|||||||rs5752672||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-19889C>G|||||||rs5752672||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-11108C>G|||||||rs5752672||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-15298C>G|||||||rs5752672||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-18540C>G|||||||rs5752672||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-22827C>G|||||||rs5752672||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-22827C>G|||||||rs5752672||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-22827C>G|||||||rs5752672||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-19889C>G|||||||rs5752672||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-11108C>G|||||||rs5752672||1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||||||||||rs5752672|3430|-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||||||||||rs5752672|1495|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-11108C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-19889C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-22827C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-11108C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-22827C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-22827C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-19889C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-18540C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-18540C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-15298C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-11108C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-22827C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-15221C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-15298C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-11108C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-11108C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-3851C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-3851C>G|||||||rs5752672||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||||||||||rs5752672|653|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27974584C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||||||||||rs5752672|3430|-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.27974584C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||||||||||rs5752672|3430|-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.27974584C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||||||||||rs5752672|3430|-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.27974584C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||||||||||rs5752672|3430|-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.27974584C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-19889C>G|||||||rs5752672||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27974584C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||||||||||rs5752672|3430|-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.27974584C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||||||||||rs5752672|3430|-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.27974584C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||||||||||rs5752672|3430|-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.27974584C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||||||||||rs5752672|3430|-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.27974584C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000612946,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9357;gnomADv4_1_AC_joint_XX=4733;gnomADv4_1_AC_joint_XY=4624;gnomADv4_1_AF_grpmax_joint=0.164476;gnomADv4_1_AF_joint=0.0614904;gnomADv4_1_AF_joint_XX=0.0608496;gnomADv4_1_AF_joint_XY=0.0621606;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=368;gnomADv4_1_nhomalt_joint_XX=182;gnomADv4_1_nhomalt_joint_XY=186;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27975497 chr22_27975497_T_C T C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.201;CADD_Rawscore=-0.425467;CSQ=C|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||||||||||rs5762425|2517|-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-21914T>C|||||||rs5762425||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-10195T>C|||||||rs5762425||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-18976T>C|||||||rs5762425||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-10195T>C|||||||rs5762425||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-14385T>C|||||||rs5762425||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-17627T>C|||||||rs5762425||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-21914T>C|||||||rs5762425||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-21914T>C|||||||rs5762425||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-21914T>C|||||||rs5762425||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-18976T>C|||||||rs5762425||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-10195T>C|||||||rs5762425||1||HGNC|HGNC:29336|2||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||||||||||rs5762425|2517|-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||||||||||rs5762425|2408|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-10195T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-18976T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-21914T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-10195T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-21914T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-21914T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-18976T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-17627T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-17627T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-14385T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-10195T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-21914T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-14308T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-14385T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-10195T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-10195T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-2938T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-2938T>C|||||||rs5762425||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||||||||||rs5762425|1566|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27975497T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||||||||||rs5762425|2517|-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.27975497T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||||||||||rs5762425|2517|-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.27975497T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||||||||||rs5762425|2517|-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.27975497T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||||||||||rs5762425|2517|-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.27975497T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-18976T>C|||||||rs5762425||1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK|||chr22:g.27975497T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||||||||||rs5762425|2517|-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.27975497T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||||||||||rs5762425|2517|-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.27975497T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||||||||||rs5762425|2517|-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.27975497T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||||||||||rs5762425|2517|-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.27975497T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000612946,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15475;gnomADv4_1_AC_joint_XX=7828;gnomADv4_1_AC_joint_XY=7647;gnomADv4_1_AF_grpmax_joint=0.204082;gnomADv4_1_AF_joint=0.101627;gnomADv4_1_AF_joint_XX=0.100591;gnomADv4_1_AF_joint_XY=0.10271;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152272;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=852;gnomADv4_1_nhomalt_joint_XX=412;gnomADv4_1_nhomalt_joint_XY=440;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27975553 chr22_27975553_C_T C T 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.562;CADD_Rawscore=-0.16389;CSQ=T|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||||||||||rs5762426|2461|-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-21858C>T|||||||rs5762426||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-10139C>T|||||||rs5762426||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-18920C>T|||||||rs5762426||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-10139C>T|||||||rs5762426||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-14329C>T|||||||rs5762426||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-17571C>T|||||||rs5762426||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-21858C>T|||||||rs5762426||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-21858C>T|||||||rs5762426||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-21858C>T|||||||rs5762426||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-18920C>T|||||||rs5762426||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-10139C>T|||||||rs5762426||1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||||||||||rs5762426|2461|-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||||||||||rs5762426|2464|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-10139C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-18920C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-21858C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-10139C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-21858C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-21858C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-18920C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-17571C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-17571C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-14329C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-10139C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-21858C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-14252C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-14329C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-10139C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-10139C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-2882C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-2882C>T|||||||rs5762426||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||||||||||rs5762426|1622|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975553C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||||||||||rs5762426|2461|-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.27975553C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||||||||||rs5762426|2461|-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.27975553C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||||||||||rs5762426|2461|-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.27975553C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||||||||||rs5762426|2461|-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.27975553C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-18920C>T|||||||rs5762426||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27975553C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||||||||||rs5762426|2461|-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.27975553C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||||||||||rs5762426|2461|-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.27975553C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||||||||||rs5762426|2461|-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.27975553C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||||||||||rs5762426|2461|-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.27975553C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000612946,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44171;gnomADv4_1_AC_joint_XX=22250;gnomADv4_1_AC_joint_XY=21921;gnomADv4_1_AF_grpmax_joint=0.454387;gnomADv4_1_AF_joint=0.290572;gnomADv4_1_AF_joint_XX=0.286299;gnomADv4_1_AF_joint_XY=0.295042;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6685;gnomADv4_1_nhomalt_joint_XX=3304;gnomADv4_1_nhomalt_joint_XY=3381;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27975668 chr22_27975668_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.326;CADD_Rawscore=0.055764;CSQ=T|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||||||||||rs5762428|2346|-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-21743C>T|||||||rs5762428||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-10024C>T|||||||rs5762428||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-18805C>T|||||||rs5762428||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-10024C>T|||||||rs5762428||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-14214C>T|||||||rs5762428||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-17456C>T|||||||rs5762428||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-21743C>T|||||||rs5762428||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-21743C>T|||||||rs5762428||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-21743C>T|||||||rs5762428||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-18805C>T|||||||rs5762428||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-10024C>T|||||||rs5762428||1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||||||||||rs5762428|2346|-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||||||||||rs5762428|2579|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-10024C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-18805C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-21743C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-10024C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-21743C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-21743C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-18805C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-17456C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-17456C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-14214C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-10024C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-21743C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-14137C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-14214C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-10024C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-10024C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-2767C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-2767C>T|||||||rs5762428||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||||||||||rs5762428|1737|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27975668C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||||||||||rs5762428|2346|-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.27975668C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||||||||||rs5762428|2346|-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.27975668C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||||||||||rs5762428|2346|-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.27975668C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||||||||||rs5762428|2346|-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.27975668C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-18805C>T|||||||rs5762428||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27975668C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||||||||||rs5762428|2346|-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.27975668C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||||||||||rs5762428|2346|-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.27975668C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||||||||||rs5762428|2346|-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.27975668C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||||||||||rs5762428|2346|-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.27975668C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000612946,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15301;gnomADv4_1_AC_joint_XX=7750;gnomADv4_1_AC_joint_XY=7551;gnomADv4_1_AF_grpmax_joint=0.205479;gnomADv4_1_AF_joint=0.100561;gnomADv4_1_AF_joint_XX=0.0996374;gnomADv4_1_AF_joint_XY=0.101527;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=832;gnomADv4_1_nhomalt_joint_XX=407;gnomADv4_1_nhomalt_joint_XY=425;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27976715 chr22_27976715_C_T C T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=7.497;CADD_Rawscore=0.712646;CSQ=T|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||||||||||rs5752673|1299|-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-20696C>T|||||||rs5752673||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-8977C>T|||||||rs5752673||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-17758C>T|||||||rs5752673||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-8977C>T|||||||rs5752673||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-13167C>T|||||||rs5752673||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-16409C>T|||||||rs5752673||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-20696C>T|||||||rs5752673||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-20696C>T|||||||rs5752673||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-20696C>T|||||||rs5752673||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-17758C>T|||||||rs5752673||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-8977C>T|||||||rs5752673||1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||||||||||rs5752673|1299|-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||||||||||rs5752673|3626|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-8977C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-17758C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-20696C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-8977C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-20696C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-20696C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-17758C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-16409C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-16409C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-13167C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-8977C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-20696C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-13090C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-13167C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-8977C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-8977C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-1720C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-1720C>T|||||||rs5752673||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||||||||||rs5752673|2784|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976715C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||||||||||rs5752673|1299|-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.27976715C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||||||||||rs5752673|1299|-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.27976715C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||||||||||rs5752673|1299|-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.27976715C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||||||||||rs5752673|1299|-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.27976715C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-17758C>T|||||||rs5752673||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27976715C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||||||||||rs5752673|1299|-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.27976715C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||||||||||rs5752673|1299|-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.27976715C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||||||||||rs5752673|1299|-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.27976715C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||||||||||rs5752673|1299|-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.27976715C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000612946,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44460;gnomADv4_1_AC_joint_XX=22409;gnomADv4_1_AC_joint_XY=22051;gnomADv4_1_AF_grpmax_joint=0.441154;gnomADv4_1_AF_joint=0.292542;gnomADv4_1_AF_joint_XX=0.28833;gnomADv4_1_AF_joint_XY=0.296951;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151978;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6758;gnomADv4_1_nhomalt_joint_XX=3351;gnomADv4_1_nhomalt_joint_XY=3407;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27976846 chr22_27976846_C_T C T 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.799;CADD_Rawscore=0.254809;CSQ=T|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||||||||||rs138631|1168|-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-20565C>T|||||||rs138631||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-8846C>T|||||||rs138631||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-17627C>T|||||||rs138631||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-8846C>T|||||||rs138631||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-13036C>T|||||||rs138631||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-16278C>T|||||||rs138631||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-20565C>T|||||||rs138631||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-20565C>T|||||||rs138631||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-20565C>T|||||||rs138631||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-17627C>T|||||||rs138631||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-8846C>T|||||||rs138631||1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||||||||||rs138631|1168|-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||||||||||rs138631|3757|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-8846C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-17627C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-20565C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-8846C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-20565C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-20565C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-17627C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-16278C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-16278C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-13036C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-8846C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-20565C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-12959C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-13036C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-8846C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-8846C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-1589C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-1589C>T|||||||rs138631||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||||||||||rs138631|2915|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27976846C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||||||||||rs138631|1168|-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.27976846C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||||||||||rs138631|1168|-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.27976846C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||||||||||rs138631|1168|-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.27976846C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||||||||||rs138631|1168|-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.27976846C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-17627C>T|||||||rs138631||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27976846C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||||||||||rs138631|1168|-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.27976846C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||||||||||rs138631|1168|-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.27976846C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||||||||||rs138631|1168|-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.27976846C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||||||||||rs138631|1168|-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.27976846C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000612946,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90702;gnomADv4_1_AC_joint_XX=46128;gnomADv4_1_AC_joint_XY=44574;gnomADv4_1_AF_grpmax_joint=0.775027;gnomADv4_1_AF_joint=0.601959;gnomADv4_1_AF_joint_XX=0.597451;gnomADv4_1_AF_joint_XY=0.606697;gnomADv4_1_AN_grpmax_joint=40996;gnomADv4_1_AN_joint=150678;gnomADv4_1_AN_joint_XX=77208;gnomADv4_1_AN_joint_XY=73470;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=28493;gnomADv4_1_nhomalt_joint_XX=14398;gnomADv4_1_nhomalt_joint_XY=14095;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27977580 chr22_27977580_TG_T TG T 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.282;CADDIndel_Rawscore=-0.338146;CSQ=-|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||||||||||rs67503614|433|-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-19830del|||||||rs67503614||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-8111del|||||||rs67503614||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-16892del|||||||rs67503614||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-8111del|||||||rs67503614||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-12301del|||||||rs67503614||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-15543del|||||||rs67503614||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-19830del|||||||rs67503614||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-19830del|||||||rs67503614||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-19830del|||||||rs67503614||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-16892del|||||||rs67503614||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-8111del|||||||rs67503614||1||HGNC|HGNC:29336|2||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||||||||||rs67503614|433|-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654553|lncRNA||||||||||rs67503614|4492|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-8111del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-16892del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-19830del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-8111del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-19830del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-19830del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-16892del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-15543del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-15543del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-12301del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-8111del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-19830del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-12224del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-12301del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-8111del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-8111del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-854del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-854del|||||||rs67503614||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||||||||||rs67503614|3650|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27977581del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||||||||||rs67503614|433|-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.27977581del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||||||||||rs67503614|433|-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.27977581del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||||||||||rs67503614|433|-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.27977581del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||||||||||rs67503614|433|-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.27977581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-16892del|||||||rs67503614||1||EntrezGene|HGNC:29336|||||||||RefSeq||G|G|OK|||chr22:g.27977581del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||||||||||rs67503614|433|-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.27977581del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||||||||||rs67503614|433|-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.27977581del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||||||||||rs67503614|433|-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.27977581del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||||||||||rs67503614|433|-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.27977581del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000612946,ENST00000654553,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65319;gnomADv4_1_AC_joint_XX=33022;gnomADv4_1_AC_joint_XY=32297;gnomADv4_1_AF_grpmax_joint=0.624952;gnomADv4_1_AF_joint=0.429719;gnomADv4_1_AF_joint_XX=0.425026;gnomADv4_1_AF_joint_XY=0.434625;gnomADv4_1_AN_grpmax_joint=5186;gnomADv4_1_AN_joint=152004;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15052;gnomADv4_1_nhomalt_joint_XX=7524;gnomADv4_1_nhomalt_joint_XY=7528;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27978228 chr22_27978228_T_C T C 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=10.74;CADD_Rawscore=1.03645;CSQ=C|3_prime_UTR_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding|23/23||ENST00000397906.7:c.*3993A>G||11556|||||rs2142561||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-19183T>C|||||||rs2142561||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-7464T>C|||||||rs2142561||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-16245T>C|||||||rs2142561||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-7464T>C|||||||rs2142561||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-11654T>C|||||||rs2142561||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-14896T>C|||||||rs2142561||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-19183T>C|||||||rs2142561||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-19183T>C|||||||rs2142561||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-19183T>C|||||||rs2142561||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-16245T>C|||||||rs2142561||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-7464T>C|||||||rs2142561||1||HGNC|HGNC:29336|2||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding|21/21||ENST00000612946.4:c.*3993A>G||11060|||||rs2142561||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-7464T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-16245T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-19183T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-7464T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-19183T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-19183T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-16245T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-14896T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-14896T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-11654T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-7464T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-19183T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-11577T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-11654T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-7464T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-7464T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-207T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-207T>C|||||||rs2142561||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||||||||||rs2142561|4297|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27978228T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding|23/23||NM_001145418.2:c.*3993A>G||11556|||||rs2142561||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.27978228T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding|22/22||NM_001393403.1:c.*3993A>G||11532|||||rs2142561||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.27978228T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding|22/22||NM_001393404.1:c.*3993A>G||11832|||||rs2142561||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.27978228T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding|21/21||NM_001393405.1:c.*3993A>G||11808|||||rs2142561||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.27978228T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-16245T>C|||||||rs2142561||1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK|||chr22:g.27978228T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding|23/23||XM_011530018.4:c.*3993A>G||11759|||||rs2142561||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.27978228T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding|23/23||XM_017028673.3:c.*3993A>G||11556|||||rs2142561||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.27978228T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding|22/22||XM_047441214.1:c.*3993A>G||11735|||||rs2142561||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.27978228T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding|23/23||XM_047441215.1:c.*3993A>G||11641|||||rs2142561||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.27978228T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-27|-2|-27|-1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000612946,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10941;gnomADv4_1_AC_joint_XX=5388;gnomADv4_1_AC_joint_XY=5553;gnomADv4_1_AF_grpmax_joint=0.184618;gnomADv4_1_AF_joint=0.0719017;gnomADv4_1_AF_joint_XX=0.0692723;gnomADv4_1_AF_joint_XY=0.0746511;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152166;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=498;gnomADv4_1_nhomalt_joint_XX=230;gnomADv4_1_nhomalt_joint_XY=268;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27978231 chr22_27978231_G_A G A 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=14.46;CADD_Rawscore=1.54695;CSQ=A|3_prime_UTR_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding|23/23||ENST00000397906.7:c.*3990C>T||11553|||||rs7625||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-19180G>A|||||||rs7625||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-7461G>A|||||||rs7625||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-16242G>A|||||||rs7625||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-7461G>A|||||||rs7625||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-11651G>A|||||||rs7625||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-14893G>A|||||||rs7625||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-19180G>A|||||||rs7625||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-19180G>A|||||||rs7625||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-19180G>A|||||||rs7625||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-16242G>A|||||||rs7625||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-7461G>A|||||||rs7625||1||HGNC|HGNC:29336|2||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding|21/21||ENST00000612946.4:c.*3990C>T||11057|||||rs7625||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-7461G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-16242G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-19180G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-7461G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-19180G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-19180G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-16242G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-14893G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-14893G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-11651G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-7461G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-19180G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-11574G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-11651G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-7461G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-7461G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||3/3|ENST00000723563.1:n.355-204G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||2/2|ENST00000723564.1:n.194-204G>A|||||||rs7625||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723565|lncRNA||||||||||rs7625|4300|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27978231G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding|23/23||NM_001145418.2:c.*3990C>T||11553|||||rs7625||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.27978231G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding|22/22||NM_001393403.1:c.*3990C>T||11529|||||rs7625||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.27978231G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding|22/22||NM_001393404.1:c.*3990C>T||11829|||||rs7625||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.27978231G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding|21/21||NM_001393405.1:c.*3990C>T||11805|||||rs7625||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.27978231G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-16242G>A|||||||rs7625||1||EntrezGene|HGNC:29336|||||||||RefSeq||G|G|OK|||chr22:g.27978231G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding|23/23||XM_011530018.4:c.*3990C>T||11756|||||rs7625||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.27978231G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding|23/23||XM_017028673.3:c.*3990C>T||11553|||||rs7625||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.27978231G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding|22/22||XM_047441214.1:c.*3990C>T||11732|||||rs7625||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.27978231G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding|23/23||XM_047441215.1:c.*3990C>T||11638|||||rs7625||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.27978231G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-30|7|-30|-46;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000612946,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,ENST00000723565,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71883;gnomADv4_1_AC_joint_XX=36396;gnomADv4_1_AC_joint_XY=35487;gnomADv4_1_AF_grpmax_joint=0.627132;gnomADv4_1_AF_joint=0.472597;gnomADv4_1_AF_joint_XX=0.46814;gnomADv4_1_AF_joint_XY=0.477258;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17843;gnomADv4_1_nhomalt_joint_XX=8948;gnomADv4_1_nhomalt_joint_XY=8895;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27979687 chr22_27979687_A_G A G 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.153;CADD_Rawscore=-0.498011;CSQ=G|3_prime_UTR_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding|23/23||ENST00000397906.7:c.*2534T>C||10097|||||rs2294820||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-17724A>G|||||||rs2294820||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-6005A>G|||||||rs2294820||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-14786A>G|||||||rs2294820||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-6005A>G|||||||rs2294820||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-10195A>G|||||||rs2294820||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||||||||||rs2294820|3912|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-13437A>G|||||||rs2294820||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-17724A>G|||||||rs2294820||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-17724A>G|||||||rs2294820||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-17724A>G|||||||rs2294820||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-14786A>G|||||||rs2294820||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-6005A>G|||||||rs2294820||1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000480563|retained_intron||||||||||rs2294820|4065|-1||HGNC|HGNC:29179|3||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding|21/21||ENST00000612946.4:c.*2534T>C||9601|||||rs2294820||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-6005A>G|||||||rs2294820||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-14786A>G|||||||rs2294820||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-17724A>G|||||||rs2294820||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-6005A>G|||||||rs2294820||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-17724A>G|||||||rs2294820||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-17724A>G|||||||rs2294820||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-14786A>G|||||||rs2294820||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-13437A>G|||||||rs2294820||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-13437A>G|||||||rs2294820||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-10195A>G|||||||rs2294820||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-6005A>G|||||||rs2294820||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-17724A>G|||||||rs2294820||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-10118A>G|||||||rs2294820||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-10195A>G|||||||rs2294820||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-6005A>G|||||||rs2294820||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-6005A>G|||||||rs2294820||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||||||||||rs2294820|921|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||||||||||rs2294820|921|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27979687A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding|23/23||NM_001145418.2:c.*2534T>C||10097|||||rs2294820||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.27979687A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding|22/22||NM_001393403.1:c.*2534T>C||10073|||||rs2294820||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.27979687A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding|22/22||NM_001393404.1:c.*2534T>C||10373|||||rs2294820||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.27979687A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding|21/21||NM_001393405.1:c.*2534T>C||10349|||||rs2294820||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.27979687A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-14786A>G|||||||rs2294820||1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27979687A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding|23/23||XM_011530018.4:c.*2534T>C||10300|||||rs2294820||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.27979687A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding|23/23||XM_017028673.3:c.*2534T>C||10097|||||rs2294820||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.27979687A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding|22/22||XM_047441214.1:c.*2534T>C||10276|||||rs2294820||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.27979687A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding|23/23||XM_047441215.1:c.*2534T>C||10182|||||rs2294820||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.27979687A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-31|-36|-37|25;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000431039,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000480563,ENST00000612946,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10450;gnomADv4_1_AC_joint_XX=5307;gnomADv4_1_AC_joint_XY=5143;gnomADv4_1_AF_grpmax_joint=0.168342;gnomADv4_1_AF_joint=0.0686452;gnomADv4_1_AF_joint_XX=0.0682362;gnomADv4_1_AF_joint_XY=0.0690725;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152232;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74458;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=436;gnomADv4_1_nhomalt_joint_XX=219;gnomADv4_1_nhomalt_joint_XY=217;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27980719 chr22_27980719_ATACT_A ATACT A 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.477;CADDIndel_Rawscore=-0.205089;CSQ=-|3_prime_UTR_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding|23/23||ENST00000397906.7:c.*1498_*1501del||9061-9064|||||rs35827168||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||TACT|TACT||||chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-16685_239-16682del|||||||rs35827168||1||HGNC|HGNC:29336|3||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-4966_146-4963del|||||||rs35827168||1||HGNC|HGNC:29336|1||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-13747_155-13744del|||||||rs35827168||1||HGNC|HGNC:29336|4||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-4966_359-4963del|||||||rs35827168||1||HGNC|HGNC:29336|3||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-9156_251-9153del|||||||rs35827168||1||HGNC|HGNC:29336|4||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||||||||||rs35827168|2876|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||TACT|TACT||||chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-12398_159-12395del|||||||rs35827168||1||HGNC|HGNC:29336|3||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-16685_322-16682del|||||||rs35827168||1||HGNC|HGNC:29336|4||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-16685_136-16682del|||||||rs35827168||1||HGNC|HGNC:29336|3||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-16685_204-16682del|||||||rs35827168||1||HGNC|HGNC:29336|4||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-13747_206-13744del|||||||rs35827168||1||HGNC|HGNC:29336|1||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-4966_240-4963del|||||||rs35827168||1||HGNC|HGNC:29336|2||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000480563|retained_intron||||||||||rs35827168|3029|-1||HGNC|HGNC:29179|3||||||||Ensembl||TACT|TACT||||chr22:g.27980726_27980729del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding|21/21||ENST00000612946.4:c.*1498_*1501del||8565-8568|||||rs35827168||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||TACT|TACT||||chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-4966_155-4963del|||||||rs35827168||1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-13747_114-13744del|||||||rs35827168||1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-16685_204-16682del|||||||rs35827168||1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-4966_462-4963del|||||||rs35827168||1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-16685_118-16682del|||||||rs35827168||1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-16685_81-16682del|||||||rs35827168||1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-13747_204-13744del|||||||rs35827168||1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-12398_109-12395del|||||||rs35827168||1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-12398_143-12395del|||||||rs35827168||1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-9156_191-9153del|||||||rs35827168||1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-4966_353-4963del|||||||rs35827168||1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-16685_318-16682del|||||||rs35827168||1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-9079_159-9076del|||||||rs35827168||1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-9156_290-9153del|||||||rs35827168||1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-4966_334-4963del|||||||rs35827168||1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-4966_242-4963del|||||||rs35827168||1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT|||6|chr22:g.27980726_27980729del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||||||||||rs35827168|1954|1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT||||chr22:g.27980726_27980729del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||||||||||rs35827168|1954|1||HGNC|HGNC:29336|||||||||Ensembl||TACT|TACT||||chr22:g.27980726_27980729del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding|23/23||NM_001145418.2:c.*1498_*1501del||9061-9064|||||rs35827168||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||TACT|TACT||||chr22:g.27980726_27980729del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding|22/22||NM_001393403.1:c.*1498_*1501del||9037-9040|||||rs35827168||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||TACT|TACT||||chr22:g.27980726_27980729del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding|22/22||NM_001393404.1:c.*1498_*1501del||9337-9340|||||rs35827168||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||TACT|TACT||||chr22:g.27980726_27980729del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding|21/21||NM_001393405.1:c.*1498_*1501del||9313-9316|||||rs35827168||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||TACT|TACT||||chr22:g.27980726_27980729del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-13747_251-13744del|||||||rs35827168||1||EntrezGene|HGNC:29336|||||||||RefSeq||TACT|TACT|OK||6|chr22:g.27980726_27980729del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding|23/23||XM_011530018.4:c.*1498_*1501del||9264-9267|||||rs35827168||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||TACT|TACT||||chr22:g.27980726_27980729del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding|23/23||XM_017028673.3:c.*1498_*1501del||9061-9064|||||rs35827168||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||TACT|TACT||||chr22:g.27980726_27980729del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding|22/22||XM_047441214.1:c.*1498_*1501del||9240-9243|||||rs35827168||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||TACT|TACT||||chr22:g.27980726_27980729del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding|23/23||XM_047441215.1:c.*1498_*1501del||9146-9149|||||rs35827168||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||TACT|TACT||||chr22:g.27980726_27980729del|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|11|-46|-7|8;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000431039,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000480563,ENST00000612946,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=89270;gnomADv4_1_AC_joint_XX=45418;gnomADv4_1_AC_joint_XY=43852;gnomADv4_1_AF_grpmax_joint=0.778773;gnomADv4_1_AF_joint=0.58848;gnomADv4_1_AF_joint_XX=0.58548;gnomADv4_1_AF_joint_XY=0.591619;gnomADv4_1_AN_grpmax_joint=41324;gnomADv4_1_AN_joint=151696;gnomADv4_1_AN_joint_XX=77574;gnomADv4_1_AN_joint_XY=74122;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=27492;gnomADv4_1_nhomalt_joint_XX=13925;gnomADv4_1_nhomalt_joint_XY=13567;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27981415 chr22_27981415_C_CAA C CAA 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADDIndel_PHREDscore=16.43;CADDIndel_Rawscore=1.93167;CSQ=AA|3_prime_UTR_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding|23/23||ENST00000397906.7:c.*804_*805dup||8368-8369|||||rs77588248||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-15995_239-15994dup|||||||rs77588248||1||HGNC|HGNC:29336|3||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-4276_146-4275dup|||||||rs77588248||1||HGNC|HGNC:29336|1||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-13057_155-13056dup|||||||rs77588248||1||HGNC|HGNC:29336|4||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-4276_359-4275dup|||||||rs77588248||1||HGNC|HGNC:29336|3||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-8466_251-8465dup|||||||rs77588248||1||HGNC|HGNC:29336|4||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||||||||||rs77588248|2183|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl|||||||chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-11708_159-11707dup|||||||rs77588248||1||HGNC|HGNC:29336|3||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-15995_322-15994dup|||||||rs77588248||1||HGNC|HGNC:29336|4||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-15995_136-15994dup|||||||rs77588248||1||HGNC|HGNC:29336|3||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-15995_204-15994dup|||||||rs77588248||1||HGNC|HGNC:29336|4||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-13057_206-13056dup|||||||rs77588248||1||HGNC|HGNC:29336|1||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-4276_240-4275dup|||||||rs77588248||1||HGNC|HGNC:29336|2||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000480563|retained_intron||||||||||rs77588248|2336|-1||HGNC|HGNC:29179|3||||||||Ensembl|||||||chr22:g.27981416_27981417dup|||||||||||||,AA|3_prime_UTR_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding|21/21||ENST00000612946.4:c.*804_*805dup||7872-7873|||||rs77588248||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-4276_155-4275dup|||||||rs77588248||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-13057_114-13056dup|||||||rs77588248||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-15995_204-15994dup|||||||rs77588248||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-4276_462-4275dup|||||||rs77588248||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-15995_118-15994dup|||||||rs77588248||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-15995_81-15994dup|||||||rs77588248||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-13057_204-13056dup|||||||rs77588248||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-11708_109-11707dup|||||||rs77588248||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-11708_143-11707dup|||||||rs77588248||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-8466_191-8465dup|||||||rs77588248||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-4276_353-4275dup|||||||rs77588248||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-15995_318-15994dup|||||||rs77588248||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-8389_159-8388dup|||||||rs77588248||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-8466_290-8465dup|||||||rs77588248||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-4276_334-4275dup|||||||rs77588248||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-4276_242-4275dup|||||||rs77588248||1||HGNC|HGNC:29336|||||||||Ensembl||||||2|chr22:g.27981416_27981417dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||||||||||rs77588248|2649|1||HGNC|HGNC:29336|||||||||Ensembl|||||||chr22:g.27981416_27981417dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||||||||||rs77588248|2649|1||HGNC|HGNC:29336|||||||||Ensembl|||||||chr22:g.27981416_27981417dup|||||||||||||,AA|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding|23/23||NM_001145418.2:c.*804_*805dup||8368-8369|||||rs77588248||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.27981416_27981417dup|||||||||||||,AA|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding|22/22||NM_001393403.1:c.*804_*805dup||8344-8345|||||rs77588248||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.27981416_27981417dup|||||||||||||,AA|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding|22/22||NM_001393404.1:c.*804_*805dup||8644-8645|||||rs77588248||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.27981416_27981417dup|||||||||||||,AA|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding|21/21||NM_001393405.1:c.*804_*805dup||8620-8621|||||rs77588248||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.27981416_27981417dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-13057_251-13056dup|||||||rs77588248||1||EntrezGene|HGNC:29336|||||||||RefSeq||||OK||2|chr22:g.27981416_27981417dup|||||||||||||,AA|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding|23/23||XM_011530018.4:c.*804_*805dup||8571-8572|||||rs77588248||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.27981416_27981417dup|||||||||||||,AA|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding|23/23||XM_017028673.3:c.*804_*805dup||8368-8369|||||rs77588248||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.27981416_27981417dup|||||||||||||,AA|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding|22/22||XM_047441214.1:c.*804_*805dup||8547-8548|||||rs77588248||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.27981416_27981417dup|||||||||||||,AA|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding|23/23||XM_047441215.1:c.*804_*805dup||8453-8454|||||rs77588248||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.27981416_27981417dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000431039,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000480563,ENST00000612946,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9975;gnomADv4_1_AC_joint_XX=5053;gnomADv4_1_AC_joint_XY=4922;gnomADv4_1_AF_grpmax_joint=0.164202;gnomADv4_1_AF_joint=0.0660168;gnomADv4_1_AF_joint_XX=0.065345;gnomADv4_1_AF_joint_XY=0.0667209;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151098;gnomADv4_1_AN_joint_XX=77328;gnomADv4_1_AN_joint_XY=73770;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=393;gnomADv4_1_nhomalt_joint_XX=204;gnomADv4_1_nhomalt_joint_XY=189;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27981416 chr22_27981416_A_G A G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=13.15;CADD_Rawscore=1.33625;CSQ=G|3_prime_UTR_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding|23/23||ENST00000397906.7:c.*805T>C||8368|||||rs185996434||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-15995A>G|||||||rs185996434||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-4276A>G|||||||rs185996434||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-13057A>G|||||||rs185996434||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-4276A>G|||||||rs185996434||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-8466A>G|||||||rs185996434||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||||||||||rs185996434|2183|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-11708A>G|||||||rs185996434||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-15995A>G|||||||rs185996434||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-15995A>G|||||||rs185996434||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-15995A>G|||||||rs185996434||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-13057A>G|||||||rs185996434||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-4276A>G|||||||rs185996434||1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000480563|retained_intron||||||||||rs185996434|2336|-1||HGNC|HGNC:29179|3||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding|21/21||ENST00000612946.4:c.*805T>C||7872|||||rs185996434||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-4276A>G|||||||rs185996434||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-13057A>G|||||||rs185996434||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-15995A>G|||||||rs185996434||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-4276A>G|||||||rs185996434||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-15995A>G|||||||rs185996434||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-15995A>G|||||||rs185996434||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-13057A>G|||||||rs185996434||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-11708A>G|||||||rs185996434||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-11708A>G|||||||rs185996434||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-8466A>G|||||||rs185996434||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-4276A>G|||||||rs185996434||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-15995A>G|||||||rs185996434||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-8389A>G|||||||rs185996434||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-8466A>G|||||||rs185996434||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-4276A>G|||||||rs185996434||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-4276A>G|||||||rs185996434||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||||||||||rs185996434|2650|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||||||||||rs185996434|2650|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27981416A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding|23/23||NM_001145418.2:c.*805T>C||8368|||||rs185996434||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.27981416A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding|22/22||NM_001393403.1:c.*805T>C||8344|||||rs185996434||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.27981416A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding|22/22||NM_001393404.1:c.*805T>C||8644|||||rs185996434||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.27981416A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding|21/21||NM_001393405.1:c.*805T>C||8620|||||rs185996434||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.27981416A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-13057A>G|||||||rs185996434||1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27981416A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding|23/23||XM_011530018.4:c.*805T>C||8571|||||rs185996434||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.27981416A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding|23/23||XM_017028673.3:c.*805T>C||8368|||||rs185996434||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.27981416A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding|22/22||XM_047441214.1:c.*805T>C||8547|||||rs185996434||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.27981416A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding|23/23||XM_047441215.1:c.*805T>C||8453|||||rs185996434||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.27981416A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-18|19|-16|19;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000431039,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000480563,ENST00000612946,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1076;gnomADv4_1_AC_joint_XX=577;gnomADv4_1_AC_joint_XY=499;gnomADv4_1_AF_grpmax_joint=0.0136364;gnomADv4_1_AF_joint=0.00809302;gnomADv4_1_AF_joint_XX=0.00847831;gnomADv4_1_AF_joint_XY=0.00768899;gnomADv4_1_AN_grpmax_joint=220;gnomADv4_1_AN_joint=132954;gnomADv4_1_AN_joint_XX=68056;gnomADv4_1_AN_joint_XY=64898;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9;gnomADv4_1_nhomalt_joint_XX=5;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27981888 chr22_27981888_C_G C G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=11.62;CADD_Rawscore=1.12749;CSQ=G|3_prime_UTR_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding|23/23||ENST00000397906.7:c.*333G>C||7896|||||rs1036848967||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-15523C>G|||||||rs1036848967||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-3804C>G|||||||rs1036848967||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-12585C>G|||||||rs1036848967||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-3804C>G|||||||rs1036848967||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-7994C>G|||||||rs1036848967||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||||||||||rs1036848967|1711|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-11236C>G|||||||rs1036848967||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-15523C>G|||||||rs1036848967||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-15523C>G|||||||rs1036848967||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-15523C>G|||||||rs1036848967||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-12585C>G|||||||rs1036848967||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-3804C>G|||||||rs1036848967||1||HGNC|HGNC:29336|2||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000480563|retained_intron||||||||||rs1036848967|1864|-1||HGNC|HGNC:29179|3||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding|21/21||ENST00000612946.4:c.*333G>C||7400|||||rs1036848967||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-3804C>G|||||||rs1036848967||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-12585C>G|||||||rs1036848967||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-15523C>G|||||||rs1036848967||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-3804C>G|||||||rs1036848967||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-15523C>G|||||||rs1036848967||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-15523C>G|||||||rs1036848967||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-12585C>G|||||||rs1036848967||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-11236C>G|||||||rs1036848967||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-11236C>G|||||||rs1036848967||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-7994C>G|||||||rs1036848967||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-3804C>G|||||||rs1036848967||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-15523C>G|||||||rs1036848967||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-7917C>G|||||||rs1036848967||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-7994C>G|||||||rs1036848967||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-3804C>G|||||||rs1036848967||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-3804C>G|||||||rs1036848967||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||||||||||rs1036848967|3122|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||||||||||rs1036848967|3122|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27981888C>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding|23/23||NM_001145418.2:c.*333G>C||7896|||||rs1036848967||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.27981888C>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding|22/22||NM_001393403.1:c.*333G>C||7872|||||rs1036848967||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.27981888C>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding|22/22||NM_001393404.1:c.*333G>C||8172|||||rs1036848967||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.27981888C>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding|21/21||NM_001393405.1:c.*333G>C||8148|||||rs1036848967||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.27981888C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-12585C>G|||||||rs1036848967||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27981888C>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding|23/23||XM_011530018.4:c.*333G>C||8099|||||rs1036848967||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.27981888C>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding|23/23||XM_017028673.3:c.*333G>C||7896|||||rs1036848967||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.27981888C>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding|22/22||XM_047441214.1:c.*333G>C||8075|||||rs1036848967||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.27981888C>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding|23/23||XM_047441215.1:c.*333G>C||7981|||||rs1036848967||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.27981888C>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|23|-7|-44|1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000431039,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000480563,ENST00000612946,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78;gnomADv4_1_AC_joint_XX=41;gnomADv4_1_AC_joint_XY=37;gnomADv4_1_AF_grpmax_joint=0.000115212;gnomADv4_1_AF_joint=0.00030065;gnomADv4_1_AF_joint_XX=0.000312934;gnomADv4_1_AF_joint_XY=0.000288117;gnomADv4_1_AN_grpmax_joint=138874;gnomADv4_1_AN_joint=259438;gnomADv4_1_AN_joint_XX=131018;gnomADv4_1_AN_joint_XY=128420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27982396 chr22_27982396_G_C G C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;AlphaMissense_class=likely_benign;AlphaMissense_pathogenicity=0.0704;AlphaMissense_protein_variant=A2424G;AlphaMissense_transcript_id=ENST00000397906.6;AlphaMissense_uniprot_id=Q96AY4;CADD_PHREDscore=0.079;CADD_Rawscore=-0.673882;CSQ=C|missense_variant|MODERATE|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding|23/23||ENST00000397906.7:c.7271C>G|ENSP00000381003.2:p.Ala2424Gly|7388|7271|2424|A/G|gCt/gGt|rs41278845||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-15015G>C|||||||rs41278845||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-3296G>C|||||||rs41278845||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-12077G>C|||||||rs41278845||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-3296G>C|||||||rs41278845||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-7486G>C|||||||rs41278845||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||||||||||rs41278845|1203|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-10728G>C|||||||rs41278845||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-15015G>C|||||||rs41278845||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-15015G>C|||||||rs41278845||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-15015G>C|||||||rs41278845||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-12077G>C|||||||rs41278845||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-3296G>C|||||||rs41278845||1||HGNC|HGNC:29336|2||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000480563|retained_intron||||||||||rs41278845|1356|-1||HGNC|HGNC:29179|3||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|missense_variant|MODERATE|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding|21/21||ENST00000612946.4:c.6890C>G|ENSP00000479834.1:p.Ala2297Gly|6892|6890|2297|A/G|gCt/gGt|rs41278845||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-3296G>C|||||||rs41278845||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-12077G>C|||||||rs41278845||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-15015G>C|||||||rs41278845||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-3296G>C|||||||rs41278845||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-15015G>C|||||||rs41278845||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-15015G>C|||||||rs41278845||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-12077G>C|||||||rs41278845||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-10728G>C|||||||rs41278845||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-10728G>C|||||||rs41278845||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-7486G>C|||||||rs41278845||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-3296G>C|||||||rs41278845||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-15015G>C|||||||rs41278845||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-7409G>C|||||||rs41278845||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-7486G>C|||||||rs41278845||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-3296G>C|||||||rs41278845||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-3296G>C|||||||rs41278845||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||||||||||rs41278845|3630|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||||||||||rs41278845|3630|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|missense_variant|MODERATE|TTC28|23331|Transcript|NM_001145418.2|protein_coding|23/23||NM_001145418.2:c.7271C>G|NP_001138890.1:p.Ala2424Gly|7388|7271|2424|A/G|gCt/gGt|rs41278845||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|missense_variant|MODERATE|TTC28|23331|Transcript|NM_001393403.1|protein_coding|22/22||NM_001393403.1:c.7247C>G|NP_001380332.1:p.Ala2416Gly|7364|7247|2416|A/G|gCt/gGt|rs41278845||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|missense_variant|MODERATE|TTC28|23331|Transcript|NM_001393404.1|protein_coding|22/22||NM_001393404.1:c.6917C>G|NP_001380333.1:p.Ala2306Gly|7664|6917|2306|A/G|gCt/gGt|rs41278845||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|missense_variant|MODERATE|TTC28|23331|Transcript|NM_001393405.1|protein_coding|21/21||NM_001393405.1:c.6893C>G|NP_001380334.1:p.Ala2298Gly|7640|6893|2298|A/G|gCt/gGt|rs41278845||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-12077G>C|||||||rs41278845||1||EntrezGene|HGNC:29336|||||||||RefSeq||G|G|OK|||chr22:g.27982396G>C|benign||1||||||||||,C|missense_variant|MODERATE|TTC28|23331|Transcript|XM_011530018.4|protein_coding|23/23||XM_011530018.4:c.7193C>G|XP_011528320.1:p.Ala2398Gly|7591|7193|2398|A/G|gCt/gGt|rs41278845||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|missense_variant|MODERATE|TTC28|23331|Transcript|XM_017028673.3|protein_coding|23/23||XM_017028673.3:c.7181C>G|XP_016884162.1:p.Ala2394Gly|7388|7181|2394|A/G|gCt/gGt|rs41278845||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|missense_variant|MODERATE|TTC28|23331|Transcript|XM_047441214.1|protein_coding|22/22||XM_047441214.1:c.7169C>G|XP_047297170.1:p.Ala2390Gly|7567|7169|2390|A/G|gCt/gGt|rs41278845||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.27982396G>C|benign||1||||||||||,C|missense_variant|MODERATE|TTC28|23331|Transcript|XM_047441215.1|protein_coding|23/23||XM_047441215.1:c.6965C>G|XP_047297171.1:p.Ala2322Gly|7473|6965|2322|A/G|gCt/gGt|rs41278845||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.27982396G>C|benign||1||||||||||;ClinVar_CLNDN=TTC28-related_disorder;ClinVar_CLNHGVS=NC_000022.11:g.27982396G>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=TTC28:23331|TTC28-AS1:284900;ClinVar_Variation_ID=3056496;REVEL_score=0.133;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|1|10|1|10;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000431039,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000480563,ENST00000612946,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66369;gnomADv4_1_AC_joint_XX=34478;gnomADv4_1_AC_joint_XY=31891;gnomADv4_1_AF_grpmax_joint=0.0777704;gnomADv4_1_AF_joint=0.0427798;gnomADv4_1_AF_joint_XX=0.0438147;gnomADv4_1_AF_joint_XY=0.0417145;gnomADv4_1_AN_grpmax_joint=5992;gnomADv4_1_AN_joint=1551410;gnomADv4_1_AN_joint_XX=786904;gnomADv4_1_AN_joint_XY=764506;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1695;gnomADv4_1_nhomalt_joint_XX=879;gnomADv4_1_nhomalt_joint_XY=816;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27982484 chr22_27982484_A_G A G 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.573;CADD_Rawscore=0.100572;CSQ=G|synonymous_variant|LOW|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding|23/23||ENST00000397906.7%3Ac.7183T>C|ENSP00000381003.2%3Ap.Leu2395%3D|7300|7183|2395|L|Ttg/Ctg|rs5762430||-1||HGNC|HGNC%3A29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22%3Ag.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-14927A>G|||||||rs5762430||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-3208A>G|||||||rs5762430||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-11989A>G|||||||rs5762430||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-3208A>G|||||||rs5762430||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-7398A>G|||||||rs5762430||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||||||||||rs5762430|1115|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-10640A>G|||||||rs5762430||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-14927A>G|||||||rs5762430||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-14927A>G|||||||rs5762430||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-14927A>G|||||||rs5762430||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-11989A>G|||||||rs5762430||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-3208A>G|||||||rs5762430||1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000480563|retained_intron||||||||||rs5762430|1268|-1||HGNC|HGNC:29179|3||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|synonymous_variant|LOW|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding|21/21||ENST00000612946.4%3Ac.6802T>C|ENSP00000479834.1%3Ap.Leu2268%3D|6804|6802|2268|L|Ttg/Ctg|rs5762430||-1||HGNC|HGNC%3A29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22%3Ag.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-3208A>G|||||||rs5762430||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-11989A>G|||||||rs5762430||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-14927A>G|||||||rs5762430||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-3208A>G|||||||rs5762430||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-14927A>G|||||||rs5762430||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-14927A>G|||||||rs5762430||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-11989A>G|||||||rs5762430||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-10640A>G|||||||rs5762430||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-10640A>G|||||||rs5762430||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-7398A>G|||||||rs5762430||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-3208A>G|||||||rs5762430||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-14927A>G|||||||rs5762430||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-7321A>G|||||||rs5762430||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-7398A>G|||||||rs5762430||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-3208A>G|||||||rs5762430||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-3208A>G|||||||rs5762430||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723563|lncRNA||||||||||rs5762430|3718|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723564|lncRNA||||||||||rs5762430|3718|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27982484A>G|||1||||||||||,G|synonymous_variant|LOW|TTC28|23331|Transcript|NM_001145418.2|protein_coding|23/23||NM_001145418.2%3Ac.7183T>C|NP_001138890.1%3Ap.Leu2395%3D|7300|7183|2395|L|Ttg/Ctg|rs5762430||-1||EntrezGene|HGNC%3A29179|||NP_001138890.1||||||RefSeq||A|A||||chr22%3Ag.27982484A>G|||1||||||||||,G|synonymous_variant|LOW|TTC28|23331|Transcript|NM_001393403.1|protein_coding|22/22||NM_001393403.1%3Ac.7159T>C|NP_001380332.1%3Ap.Leu2387%3D|7276|7159|2387|L|Ttg/Ctg|rs5762430||-1||EntrezGene|HGNC%3A29179|||NP_001380332.1||||||RefSeq||A|A||||chr22%3Ag.27982484A>G|||1||||||||||,G|synonymous_variant|LOW|TTC28|23331|Transcript|NM_001393404.1|protein_coding|22/22||NM_001393404.1%3Ac.6829T>C|NP_001380333.1%3Ap.Leu2277%3D|7576|6829|2277|L|Ttg/Ctg|rs5762430||-1||EntrezGene|HGNC%3A29179|||NP_001380333.1||||||RefSeq||A|A||||chr22%3Ag.27982484A>G|||1||||||||||,G|synonymous_variant|LOW|TTC28|23331|Transcript|NM_001393405.1|protein_coding|21/21||NM_001393405.1%3Ac.6805T>C|NP_001380334.1%3Ap.Leu2269%3D|7552|6805|2269|L|Ttg/Ctg|rs5762430||-1||EntrezGene|HGNC%3A29179|||NP_001380334.1||||||RefSeq||A|A||||chr22%3Ag.27982484A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-11989A>G|||||||rs5762430||1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27982484A>G|||1||||||||||,G|synonymous_variant|LOW|TTC28|23331|Transcript|XM_011530018.4|protein_coding|23/23||XM_011530018.4%3Ac.7105T>C|XP_011528320.1%3Ap.Leu2369%3D|7503|7105|2369|L|Ttg/Ctg|rs5762430||-1||EntrezGene|HGNC%3A29179|||XP_011528320.1||||||RefSeq||A|A||||chr22%3Ag.27982484A>G|||1||||||||||,G|synonymous_variant|LOW|TTC28|23331|Transcript|XM_017028673.3|protein_coding|23/23||XM_017028673.3%3Ac.7093T>C|XP_016884162.1%3Ap.Leu2365%3D|7300|7093|2365|L|Ttg/Ctg|rs5762430||-1||EntrezGene|HGNC%3A29179|||XP_016884162.1||||||RefSeq||A|A||||chr22%3Ag.27982484A>G|||1||||||||||,G|synonymous_variant|LOW|TTC28|23331|Transcript|XM_047441214.1|protein_coding|22/22||XM_047441214.1%3Ac.7081T>C|XP_047297170.1%3Ap.Leu2361%3D|7479|7081|2361|L|Ttg/Ctg|rs5762430||-1||EntrezGene|HGNC%3A29179|||XP_047297170.1||||||RefSeq||A|A||||chr22%3Ag.27982484A>G|||1||||||||||,G|synonymous_variant|LOW|TTC28|23331|Transcript|XM_047441215.1|protein_coding|23/23||XM_047441215.1%3Ac.6877T>C|XP_047297171.1%3Ap.Leu2293%3D|7385|6877|2293|L|Ttg/Ctg|rs5762430||-1||EntrezGene|HGNC%3A29179|||XP_047297171.1||||||RefSeq||A|A||||chr22%3Ag.27982484A>G|||1||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|16|4|-21|17;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000431039,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000480563,ENST00000612946,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,ENST00000723563,ENST00000723564,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=289725;gnomADv4_1_AC_joint_XX=143683;gnomADv4_1_AC_joint_XY=146042;gnomADv4_1_AF_grpmax_joint=0.35793;gnomADv4_1_AF_joint=0.186777;gnomADv4_1_AF_joint_XX=0.182615;gnomADv4_1_AF_joint_XY=0.191062;gnomADv4_1_AN_grpmax_joint=5990;gnomADv4_1_AN_joint=1551178;gnomADv4_1_AN_joint_XX=786808;gnomADv4_1_AN_joint_XY=764370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=30160;gnomADv4_1_nhomalt_joint_XX=14334;gnomADv4_1_nhomalt_joint_XY=15826;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27984600 chr22_27984600_G_A G A 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.045;CADD_Rawscore=-0.832163;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||22/22|ENST00000397906.7:c.5815+649C>T|||||||rs138638||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-12811G>A|||||||rs138638||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-1092G>A|||||||rs138638||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-9873G>A|||||||rs138638||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-1092G>A|||||||rs138638||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-5282G>A|||||||rs138638||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||5/5|ENST00000431039.1:c.652+649C>T|||||||rs138638||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-8524G>A|||||||rs138638||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-12811G>A|||||||rs138638||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-12811G>A|||||||rs138638||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-12811G>A|||||||rs138638||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-9873G>A|||||||rs138638||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-1092G>A|||||||rs138638||1||HGNC|HGNC:29336|2||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000480563|retained_intron||2/2|ENST00000480563.1:n.307+649C>T|||||||rs138638||-1||HGNC|HGNC:29179|3||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||20/20|ENST00000612946.4:c.5434+649C>T|||||||rs138638||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-1092G>A|||||||rs138638||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-9873G>A|||||||rs138638||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-12811G>A|||||||rs138638||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-1092G>A|||||||rs138638||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-12811G>A|||||||rs138638||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-12811G>A|||||||rs138638||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-9873G>A|||||||rs138638||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-8524G>A|||||||rs138638||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-8524G>A|||||||rs138638||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-5282G>A|||||||rs138638||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-1092G>A|||||||rs138638||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-12811G>A|||||||rs138638||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-5205G>A|||||||rs138638||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-5282G>A|||||||rs138638||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-1092G>A|||||||rs138638||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-1092G>A|||||||rs138638||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||22/22|NM_001145418.2:c.5815+649C>T|||||||rs138638||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||21/21|NM_001393403.1:c.5791+649C>T|||||||rs138638||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||21/21|NM_001393404.1:c.5461+649C>T|||||||rs138638||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||20/20|NM_001393405.1:c.5437+649C>T|||||||rs138638||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-9873G>A|||||||rs138638||1||EntrezGene|HGNC:29336|||||||||RefSeq||G|G|OK|||chr22:g.27984600G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||22/22|XM_011530018.4:c.5737+649C>T|||||||rs138638||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||22/22|XM_017028673.3:c.5725+649C>T|||||||rs138638||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||21/21|XM_047441214.1:c.5713+649C>T|||||||rs138638||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.27984600G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||22/22|XM_047441215.1:c.5509+649C>T|||||||rs138638||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.27984600G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|0|4|0|4;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000431039,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000480563,ENST00000612946,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90177;gnomADv4_1_AC_joint_XX=45855;gnomADv4_1_AC_joint_XY=44322;gnomADv4_1_AF_grpmax_joint=0.782686;gnomADv4_1_AF_joint=0.593582;gnomADv4_1_AF_joint_XX=0.590276;gnomADv4_1_AF_joint_XY=0.597042;gnomADv4_1_AN_grpmax_joint=41424;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=28019;gnomADv4_1_nhomalt_joint_XX=14181;gnomADv4_1_nhomalt_joint_XY=13838;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27984782 chr22_27984782_T_C T C 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=3.909;CADD_Rawscore=0.357181;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||22/22|ENST00000397906.7:c.5815+467A>G|||||||rs118839||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-12629T>C|||||||rs118839||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||1/1|ENST00000419253.1:n.146-910T>C|||||||rs118839||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-9691T>C|||||||rs118839||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||3/3|ENST00000425112.3:n.359-910T>C|||||||rs118839||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-5100T>C|||||||rs118839||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||5/5|ENST00000431039.1:c.652+467A>G|||||||rs118839||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-8342T>C|||||||rs118839||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-12629T>C|||||||rs118839||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-12629T>C|||||||rs118839||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-12629T>C|||||||rs118839||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-9691T>C|||||||rs118839||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||2/2|ENST00000454996.9:n.240-910T>C|||||||rs118839||1||HGNC|HGNC:29336|2||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000480563|retained_intron||2/2|ENST00000480563.1:n.307+467A>G|||||||rs118839||-1||HGNC|HGNC:29179|3||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||20/20|ENST00000612946.4:c.5434+467A>G|||||||rs118839||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||1/1|ENST00000654619.1:n.155-910T>C|||||||rs118839||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-9691T>C|||||||rs118839||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-12629T>C|||||||rs118839||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||4/4|ENST00000662424.2:n.462-910T>C|||||||rs118839||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-12629T>C|||||||rs118839||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-12629T>C|||||||rs118839||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-9691T>C|||||||rs118839||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-8342T>C|||||||rs118839||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-8342T>C|||||||rs118839||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-5100T>C|||||||rs118839||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||3/3|ENST00000702093.2:n.353-910T>C|||||||rs118839||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-12629T>C|||||||rs118839||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-5023T>C|||||||rs118839||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-5100T>C|||||||rs118839||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||2/2|ENST00000723561.1:n.334-910T>C|||||||rs118839||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||2/2|ENST00000723562.1:n.242-910T>C|||||||rs118839||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||22/22|NM_001145418.2:c.5815+467A>G|||||||rs118839||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||21/21|NM_001393403.1:c.5791+467A>G|||||||rs118839||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||21/21|NM_001393404.1:c.5461+467A>G|||||||rs118839||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||20/20|NM_001393405.1:c.5437+467A>G|||||||rs118839||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-9691T>C|||||||rs118839||1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK|||chr22:g.27984782T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||22/22|XM_011530018.4:c.5737+467A>G|||||||rs118839||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||22/22|XM_017028673.3:c.5725+467A>G|||||||rs118839||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||21/21|XM_047441214.1:c.5713+467A>G|||||||rs118839||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.27984782T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||22/22|XM_047441215.1:c.5509+467A>G|||||||rs118839||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.27984782T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-5|13|31|-34;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000430853,ENST00000431039,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000480563,ENST00000612946,ENST00000654619,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82296;gnomADv4_1_AC_joint_XX=41499;gnomADv4_1_AC_joint_XY=40797;gnomADv4_1_AF_grpmax_joint=0.664663;gnomADv4_1_AF_joint=0.541001;gnomADv4_1_AF_joint_XX=0.533694;gnomADv4_1_AF_joint_XY=0.548642;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=22580;gnomADv4_1_nhomalt_joint_XX=11212;gnomADv4_1_nhomalt_joint_XY=11368;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27987561 chr22_27987561_G_C G C 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=5.835;CADD_Rawscore=0.536606;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||21/22|ENST00000397906.7:c.5708-2205C>G|||||||rs2092054||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-9850G>C|||||||rs2092054||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||||||||||rs2092054|1169|1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-6912G>C|||||||rs2092054||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||||||||||rs2092054|1169|1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA||||||||||rs2092054|4908|1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||2/3|ENST00000430853.5:n.251-2321G>C|||||||rs2092054||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||4/5|ENST00000431039.1:c.545-2205C>G|||||||rs2092054||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-5563G>C|||||||rs2092054||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-9850G>C|||||||rs2092054||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-9850G>C|||||||rs2092054||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-9850G>C|||||||rs2092054||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-6912G>C|||||||rs2092054||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||||||||||rs2092054|1169|1||HGNC|HGNC:29336|2||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000480563|retained_intron||1/2|ENST00000480563.1:n.200-2205C>G|||||||rs2092054||-1||HGNC|HGNC:29179|3||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||19/20|ENST00000612946.4:c.5327-2205C>G|||||||rs2092054||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||||||||||rs2092054|1385|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655196|lncRNA||||||||||rs2092054|3909|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-6912G>C|||||||rs2092054||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-9850G>C|||||||rs2092054||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||||||||||rs2092054|1169|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-9850G>C|||||||rs2092054||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-9850G>C|||||||rs2092054||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-6912G>C|||||||rs2092054||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-5563G>C|||||||rs2092054||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-5563G>C|||||||rs2092054||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||2/2|ENST00000688200.2:n.191-2321G>C|||||||rs2092054||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||||||||||rs2092054|1169|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-9850G>C|||||||rs2092054||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||2/2|ENST00000723559.1:n.159-2244G>C|||||||rs2092054||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||3/3|ENST00000723560.1:n.290-2321G>C|||||||rs2092054||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||||||||||rs2092054|1171|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||||||||||rs2092054|1169|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||21/22|NM_001145418.2:c.5708-2205C>G|||||||rs2092054||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||20/21|NM_001393403.1:c.5684-2205C>G|||||||rs2092054||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||20/21|NM_001393404.1:c.5354-2205C>G|||||||rs2092054||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||19/20|NM_001393405.1:c.5330-2205C>G|||||||rs2092054||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-6912G>C|||||||rs2092054||1||EntrezGene|HGNC:29336|||||||||RefSeq||G|G|OK|||chr22:g.27987561G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||21/22|XM_011530018.4:c.5630-2205C>G|||||||rs2092054||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||21/22|XM_017028673.3:c.5618-2205C>G|||||||rs2092054||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||20/21|XM_047441214.1:c.5606-2205C>G|||||||rs2092054||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.27987561G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||21/22|XM_047441215.1:c.5402-2205C>G|||||||rs2092054||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.27987561G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F4XB|enhancer||||||||||rs2092054|||||||||||||||||||||chr22:g.27987561G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-1|3|-1|-47;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000428584,ENST00000430853,ENST00000431039,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000480563,ENST00000612946,ENST00000654619,ENST00000655196,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,ENSR22_9F4XB;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70001;gnomADv4_1_AC_joint_XX=35337;gnomADv4_1_AC_joint_XY=34664;gnomADv4_1_AF_grpmax_joint=0.623883;gnomADv4_1_AF_joint=0.460327;gnomADv4_1_AF_joint_XX=0.454636;gnomADv4_1_AF_joint_XY=0.466277;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16763;gnomADv4_1_nhomalt_joint_XX=8339;gnomADv4_1_nhomalt_joint_XY=8424;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27990632 chr22_27990632_A_G A G 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.289;CADD_Rawscore=0.048301;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||20/22|ENST00000397906.7:c.5577+157T>C|||||||rs470100||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-6779A>G|||||||rs470100||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||||||||||rs470100|4240|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-3841A>G|||||||rs470100||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||||||||||rs470100|4240|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA||||||||||rs470100|1837|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||3/3|ENST00000430853.5:n.395+606A>G|||||||rs470100||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||3/5|ENST00000431039.1:c.415-625T>C|||||||rs470100||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000433317|lncRNA||||||||||rs470100|2481|1||HGNC|HGNC:29336|5||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-2492A>G|||||||rs470100||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-6779A>G|||||||rs470100||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-6779A>G|||||||rs470100||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-6779A>G|||||||rs470100||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-3841A>G|||||||rs470100||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||||||||||rs470100|4240|1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000469670|retained_intron||||||||||rs470100|1980|-1||HGNC|HGNC:29179|3||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000480563|retained_intron||||||||||rs470100|556|-1||HGNC|HGNC:29179|3||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000540665|lncRNA||||||||||rs470100|2296|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||18/20|ENST00000612946.4:c.5196+157T>C|||||||rs470100||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000274342|Transcript|ENST00000615579|misc_RNA||||||||||rs470100|3842|1||||||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654619|lncRNA||||||||||rs470100|4456|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655196|lncRNA||||||||||rs470100|838|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-3841A>G|||||||rs470100||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-6779A>G|||||||rs470100||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||||||||||rs470100|4240|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-6779A>G|||||||rs470100||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-6779A>G|||||||rs470100||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-3841A>G|||||||rs470100||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-2492A>G|||||||rs470100||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665529|lncRNA||||||||||rs470100|3928|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-2492A>G|||||||rs470100||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA|3/3||ENST00000688200.2:n.941A>G||941|||||rs470100||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||||||||||rs470100|4240|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-6779A>G|||||||rs470100||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||||||||||rs470100|470|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||||||||||rs470100|465|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||||||||||rs470100|4242|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||||||||||rs470100|4240|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||20/22|NM_001145418.2:c.5577+157T>C|||||||rs470100||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||19/21|NM_001393403.1:c.5554-625T>C|||||||rs470100||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||19/21|NM_001393404.1:c.5223+157T>C|||||||rs470100||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||18/20|NM_001393405.1:c.5200-625T>C|||||||rs470100||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-3841A>G|||||||rs470100||1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27990632A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||20/22|XM_011530018.4:c.5499+157T>C|||||||rs470100||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||20/22|XM_017028673.3:c.5487+157T>C|||||||rs470100||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||19/21|XM_047441214.1:c.5476-625T>C|||||||rs470100||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.27990632A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||20/22|XM_047441215.1:c.5271+157T>C|||||||rs470100||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.27990632A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|41|-12|-4|20;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000428584,ENST00000430853,ENST00000431039,ENST00000433317,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000469670,ENST00000480563,ENST00000540665,ENST00000612946,ENST00000615579,ENST00000654619,ENST00000655196,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000665529,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000100154,ENSG00000235954,ENSG00000100154,ENSG00000274342,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28-AS1,TTC28,.,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90705;gnomADv4_1_AC_joint_XX=46112;gnomADv4_1_AC_joint_XY=44593;gnomADv4_1_AF_grpmax_joint=0.693098;gnomADv4_1_AF_joint=0.597018;gnomADv4_1_AF_joint_XX=0.593447;gnomADv4_1_AF_joint_XY=0.600757;gnomADv4_1_AN_grpmax_joint=41440;gnomADv4_1_AN_joint=151930;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=27631;gnomADv4_1_nhomalt_joint_XX=13958;gnomADv4_1_nhomalt_joint_XY=13673;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27991284 chr22_27991284_CA_C CA C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.68;CADDIndel_Rawscore=-0.116363;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||19/22|ENST00000397906.7:c.5554-473del|||||||rs1350408024||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-6126del|||||||rs1350408024||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000419253|lncRNA||||||||||rs1350408024|4893|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-3188del|||||||rs1350408024||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000425112|lncRNA||||||||||rs1350408024|4893|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA||||||||||rs1350408024|1184|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||3/3|ENST00000430853.5:n.395+1259del|||||||rs1350408024||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||3/5|ENST00000431039.1:c.415-1278del|||||||rs1350408024||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000433317|lncRNA||||||||||rs1350408024|1828|1||HGNC|HGNC:29336|5||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-1839del|||||||rs1350408024||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-6126del|||||||rs1350408024||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-6126del|||||||rs1350408024||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-6126del|||||||rs1350408024||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-3188del|||||||rs1350408024||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454996|lncRNA||||||||||rs1350408024|4893|1||HGNC|HGNC:29336|2||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000469670|retained_intron||||||||||rs1350408024|1327|-1||HGNC|HGNC:29179|3||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000480563|retained_intron||||||||||rs1350408024|1209|-1||HGNC|HGNC:29179|3||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000540665|lncRNA||||||||||rs1350408024|1643|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||17/20|ENST00000612946.4:c.5173-473del|||||||rs1350408024||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000274342|Transcript|ENST00000615579|misc_RNA||||||||||rs1350408024|3189|1||||||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655196|lncRNA||||||||||rs1350408024|185|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-3188del|||||||rs1350408024||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-6126del|||||||rs1350408024||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662424|lncRNA||||||||||rs1350408024|4893|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-6126del|||||||rs1350408024||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-6126del|||||||rs1350408024||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-3188del|||||||rs1350408024||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-1839del|||||||rs1350408024||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665529|lncRNA||||||||||rs1350408024|3275|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-1839del|||||||rs1350408024||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||||||||||rs1350408024|438|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000702093|lncRNA||||||||||rs1350408024|4893|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-6126del|||||||rs1350408024||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||||||||||rs1350408024|1123|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||||||||||rs1350408024|1118|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723561|lncRNA||||||||||rs1350408024|4895|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723562|lncRNA||||||||||rs1350408024|4893|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||19/22|NM_001145418.2:c.5554-473del|||||||rs1350408024||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||19/21|NM_001393403.1:c.5554-1278del|||||||rs1350408024||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||18/21|NM_001393404.1:c.5200-473del|||||||rs1350408024||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||18/20|NM_001393405.1:c.5200-1278del|||||||rs1350408024||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-3188del|||||||rs1350408024||1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.27991285del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||19/22|XM_011530018.4:c.5476-473del|||||||rs1350408024||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||19/22|XM_017028673.3:c.5464-473del|||||||rs1350408024||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||19/21|XM_047441214.1:c.5476-1278del|||||||rs1350408024||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.27991285del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||19/22|XM_047441215.1:c.5248-473del|||||||rs1350408024||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.27991285del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F4Z9|enhancer||||||||||rs1350408024|||||||||||||||||||||chr22:g.27991285del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-49|5|-19|-15;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000419253,ENST00000424161,ENST00000425112,ENST00000428584,ENST00000430853,ENST00000431039,ENST00000433317,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000454996,ENST00000469670,ENST00000480563,ENST00000540665,ENST00000612946,ENST00000615579,ENST00000655196,ENST00000655332,ENST00000659843,ENST00000662424,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000665529,ENST00000669227,ENST00000688200,ENST00000702093,ENST00000723558,ENST00000723559,ENST00000723560,ENST00000723561,ENST00000723562,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,ENSR22_9F4Z9;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000100154,ENSG00000235954,ENSG00000100154,ENSG00000274342,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28-AS1,TTC28,.,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4;gnomADv4_1_AC_joint_XX=4;gnomADv4_1_AC_joint_XY=0;gnomADv4_1_AF_grpmax_joint=2.41266e-05;gnomADv4_1_AF_joint=2.62736e-05;gnomADv4_1_AF_joint_XX=5.13756e-05;gnomADv4_1_AF_joint_XY=0.0;gnomADv4_1_AN_grpmax_joint=41448;gnomADv4_1_AN_joint=152244;gnomADv4_1_AN_joint_XX=77858;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27992335 chr22_27992335_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=3.542;CADD_Rawscore=0.324492;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||19/22|ENST00000397906.7:c.5553+252G>A|||||||rs113565025||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-5076C>T|||||||rs113565025||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-2138C>T|||||||rs113565025||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA||||||||||rs113565025|134|1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||3/3|ENST00000430853.5:n.396-789C>T|||||||rs113565025||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||3/5|ENST00000431039.1:c.414+252G>A|||||||rs113565025||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000433317|lncRNA||||||||||rs113565025|778|1||HGNC|HGNC:29336|5||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-789C>T|||||||rs113565025||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-5076C>T|||||||rs113565025||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-5076C>T|||||||rs113565025||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-5076C>T|||||||rs113565025||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-2138C>T|||||||rs113565025||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000469670|retained_intron||||||||||rs113565025|277|-1||HGNC|HGNC:29179|3||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000480563|retained_intron||||||||||rs113565025|2259|-1||HGNC|HGNC:29179|3||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000540665|lncRNA||||||||||rs113565025|593|1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||17/20|ENST00000612946.4:c.5172+252G>A|||||||rs113565025||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000274342|Transcript|ENST00000615579|misc_RNA||||||||||rs113565025|2139|1||||||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655196|lncRNA|1/4||ENST00000655196.1:n.866C>T||866|||||rs113565025||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-2138C>T|||||||rs113565025||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-5076C>T|||||||rs113565025||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-5076C>T|||||||rs113565025||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-5076C>T|||||||rs113565025||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-2138C>T|||||||rs113565025||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-789C>T|||||||rs113565025||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665529|lncRNA||||||||||rs113565025|2225|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-789C>T|||||||rs113565025||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||||||||||rs113565025|1488|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-5076C>T|||||||rs113565025||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||||||||||rs113565025|2173|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||||||||||rs113565025|2168|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||19/22|NM_001145418.2:c.5553+252G>A|||||||rs113565025||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||19/21|NM_001393403.1:c.5553+252G>A|||||||rs113565025||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||18/21|NM_001393404.1:c.5199+252G>A|||||||rs113565025||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||18/20|NM_001393405.1:c.5199+252G>A|||||||rs113565025||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-2138C>T|||||||rs113565025||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27992335C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||19/22|XM_011530018.4:c.5475+252G>A|||||||rs113565025||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||19/22|XM_017028673.3:c.5463+252G>A|||||||rs113565025||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||19/21|XM_047441214.1:c.5475+252G>A|||||||rs113565025||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.27992335C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||19/22|XM_047441215.1:c.5247+252G>A|||||||rs113565025||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.27992335C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|46|-7|4;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000424161,ENST00000428584,ENST00000430853,ENST00000431039,ENST00000433317,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000469670,ENST00000480563,ENST00000540665,ENST00000612946,ENST00000615579,ENST00000655196,ENST00000655332,ENST00000659843,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000665529,ENST00000669227,ENST00000688200,ENST00000723558,ENST00000723559,ENST00000723560,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000100154,ENSG00000235954,ENSG00000100154,ENSG00000274342,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28-AS1,TTC28,.,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3740;gnomADv4_1_AC_joint_XX=1827;gnomADv4_1_AC_joint_XY=1913;gnomADv4_1_AF_grpmax_joint=0.0443299;gnomADv4_1_AF_joint=0.00693165;gnomADv4_1_AF_joint_XX=0.00700011;gnomADv4_1_AF_joint_XY=0.00686751;gnomADv4_1_AN_grpmax_joint=1940;gnomADv4_1_AN_joint=539554;gnomADv4_1_AN_joint_XX=260996;gnomADv4_1_AN_joint_XY=278558;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=30;gnomADv4_1_nhomalt_joint_XX=14;gnomADv4_1_nhomalt_joint_XY=16;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27992391 chr22_27992391_G_A G A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.273;CADD_Rawscore=0.0451;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||19/22|ENST00000397906.7:c.5553+196C>T|||||||rs138644||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-5020G>A|||||||rs138644||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-2082G>A|||||||rs138644||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA||||||||||rs138644|78|1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||3/3|ENST00000430853.5:n.396-733G>A|||||||rs138644||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||3/5|ENST00000431039.1:c.414+196C>T|||||||rs138644||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000433317|lncRNA||||||||||rs138644|722|1||HGNC|HGNC:29336|5||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||1/5|ENST00000434221.6:n.159-733G>A|||||||rs138644||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-5020G>A|||||||rs138644||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-5020G>A|||||||rs138644||1||HGNC|HGNC:29336|3||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-5020G>A|||||||rs138644||1||HGNC|HGNC:29336|4||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-2082G>A|||||||rs138644||1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000469670|retained_intron||||||||||rs138644|221|-1||HGNC|HGNC:29179|3||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000480563|retained_intron||||||||||rs138644|2315|-1||HGNC|HGNC:29179|3||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000540665|lncRNA||||||||||rs138644|537|1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||17/20|ENST00000612946.4:c.5172+196C>T|||||||rs138644||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000274342|Transcript|ENST00000615579|misc_RNA||||||||||rs138644|2083|1||||||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655196|lncRNA|1/4||ENST00000655196.1:n.922G>A||922|||||rs138644||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-2082G>A|||||||rs138644||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-5020G>A|||||||rs138644||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-5020G>A|||||||rs138644||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-5020G>A|||||||rs138644||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-2082G>A|||||||rs138644||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||1/5|ENST00000665505.1:n.109-733G>A|||||||rs138644||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665529|lncRNA||||||||||rs138644|2169|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||2/5|ENST00000669227.1:n.143-733G>A|||||||rs138644||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||||||||||rs138644|1544|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-5020G>A|||||||rs138644||1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||||||||||rs138644|2229|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||||||||||rs138644|2224|1||HGNC|HGNC:29336|||||||||Ensembl||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||19/22|NM_001145418.2:c.5553+196C>T|||||||rs138644||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||19/21|NM_001393403.1:c.5553+196C>T|||||||rs138644||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||18/21|NM_001393404.1:c.5199+196C>T|||||||rs138644||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||18/20|NM_001393405.1:c.5199+196C>T|||||||rs138644||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-2082G>A|||||||rs138644||1||EntrezGene|HGNC:29336|||||||||RefSeq||G|G|OK|||chr22:g.27992391G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||19/22|XM_011530018.4:c.5475+196C>T|||||||rs138644||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||19/22|XM_017028673.3:c.5463+196C>T|||||||rs138644||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||19/21|XM_047441214.1:c.5475+196C>T|||||||rs138644||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.27992391G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||19/22|XM_047441215.1:c.5247+196C>T|||||||rs138644||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.27992391G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-10|26|-10|-9;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000424161,ENST00000428584,ENST00000430853,ENST00000431039,ENST00000433317,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000469670,ENST00000480563,ENST00000540665,ENST00000612946,ENST00000615579,ENST00000655196,ENST00000655332,ENST00000659843,ENST00000662682,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000665529,ENST00000669227,ENST00000688200,ENST00000723558,ENST00000723559,ENST00000723560,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000100154,ENSG00000235954,ENSG00000100154,ENSG00000274342,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28-AS1,TTC28,.,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=193673;gnomADv4_1_AC_joint_XX=93086;gnomADv4_1_AC_joint_XY=100587;gnomADv4_1_AF_grpmax_joint=0.385001;gnomADv4_1_AF_joint=0.317566;gnomADv4_1_AF_joint_XX=0.315129;gnomADv4_1_AF_joint_XY=0.319856;gnomADv4_1_AN_grpmax_joint=53922;gnomADv4_1_AN_joint=609866;gnomADv4_1_AN_joint_XX=295390;gnomADv4_1_AN_joint_XY=314476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31564;gnomADv4_1_nhomalt_joint_XX=15024;gnomADv4_1_nhomalt_joint_XY=16540;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27993270 chr22_27993270_C_T C T 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.929;CADD_Rawscore=-0.036914;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||18/22|ENST00000397906.7:c.5476+17G>A|||||||rs5752679||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-4141C>T|||||||rs5752679||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||1/3|ENST00000424161.6:n.155-1203C>T|||||||rs5752679||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA|1/5||ENST00000428584.5:n.802C>T||802|||||rs5752679||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA|4/4||ENST00000430853.5:n.542C>T||542|||||rs5752679||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||2/5|ENST00000431039.1:c.337+17G>A|||||||rs5752679||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000433317|lncRNA|1/5||ENST00000433317.1:n.158C>T||158|||||rs5752679||1||HGNC|HGNC:29336|5||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA|2/6||ENST00000434221.6:n.305C>T||305|||||rs5752679||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-4141C>T|||||||rs5752679||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-4141C>T|||||||rs5752679||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-4141C>T|||||||rs5752679||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||2/4|ENST00000454741.5:n.206-1203C>T|||||||rs5752679||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000469670|retained_intron||2/2|ENST00000469670.1:n.522+17G>A|||||||rs5752679||-1||HGNC|HGNC:29179|3||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000480563|retained_intron||||||||||rs5752679|3194|-1||HGNC|HGNC:29179|3||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000540665|lncRNA|1/3||ENST00000540665.5:n.343C>T||343|||||rs5752679||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||16/20|ENST00000612946.4:c.5095+17G>A|||||||rs5752679||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000274342|Transcript|ENST00000615579|misc_RNA||||||||||rs5752679|1204|1||||||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655196|lncRNA|1/4||ENST00000655196.1:n.1801C>T||1801|||||rs5752679||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||1/5|ENST00000655332.1:n.114-1203C>T|||||||rs5752679||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-4141C>T|||||||rs5752679||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-4141C>T|||||||rs5752679||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000663167|lncRNA||||||||||rs5752679|4141|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-4141C>T|||||||rs5752679||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||2/6|ENST00000665376.1:n.204-1203C>T|||||||rs5752679||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA|2/6||ENST00000665505.1:n.255C>T||255|||||rs5752679||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665529|lncRNA||||||||||rs5752679|1290|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA|3/6||ENST00000669227.1:n.289C>T||289|||||rs5752679||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||||||||||rs5752679|2423|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-4141C>T|||||||rs5752679||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||||||||||rs5752679|3108|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||||||||||rs5752679|3103|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||18/22|NM_001145418.2:c.5476+17G>A|||||||rs5752679||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||18/21|NM_001393403.1:c.5476+17G>A|||||||rs5752679||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||17/21|NM_001393404.1:c.5122+17G>A|||||||rs5752679||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||17/20|NM_001393405.1:c.5122+17G>A|||||||rs5752679||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||2/4|NR_026963.1:n.251-1203C>T|||||||rs5752679||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27993270C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||18/22|XM_011530018.4:c.5398+17G>A|||||||rs5752679||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||18/22|XM_017028673.3:c.5386+17G>A|||||||rs5752679||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||18/21|XM_047441214.1:c.5398+17G>A|||||||rs5752679||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.27993270C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||18/22|XM_047441215.1:c.5170+17G>A|||||||rs5752679||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.27993270C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.01|0.00|-28|-1|10|17;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000424161,ENST00000428584,ENST00000430853,ENST00000431039,ENST00000433317,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000469670,ENST00000480563,ENST00000540665,ENST00000612946,ENST00000615579,ENST00000655196,ENST00000655332,ENST00000659843,ENST00000662682,ENST00000663167,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000665529,ENST00000669227,ENST00000688200,ENST00000723558,ENST00000723559,ENST00000723560,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000100154,ENSG00000235954,ENSG00000100154,ENSG00000274342,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28-AS1,TTC28,.,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=75442;gnomADv4_1_AC_joint_XX=37260;gnomADv4_1_AC_joint_XY=38182;gnomADv4_1_AF_grpmax_joint=0.143569;gnomADv4_1_AF_joint=0.0499916;gnomADv4_1_AF_joint_XX=0.0484081;gnomADv4_1_AF_joint_XY=0.05164;gnomADv4_1_AN_grpmax_joint=40566;gnomADv4_1_AN_joint=1509094;gnomADv4_1_AN_joint_XX=769706;gnomADv4_1_AN_joint_XY=739388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2546;gnomADv4_1_nhomalt_joint_XX=1205;gnomADv4_1_nhomalt_joint_XY=1341;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27994901 chr22_27994901_CCAGA_C CCAGA C 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=1.032;CADDIndel_Rawscore=-0.009751;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||17/22|ENST00000397906.7:c.5244+1230_5244+1233del|||||||rs3840091||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-2506_239-2503del|||||||rs3840091||1||HGNC|HGNC:29336|3||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||2/3|ENST00000424161.6:n.335+252_335+255del|||||||rs3840091||1||HGNC|HGNC:29336|4||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA||2/4|ENST00000428584.5:n.1248+252_1248+255del|||||||rs3840091||1||HGNC|HGNC:29336|1||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||||||||||rs3840091|1610|1||HGNC|HGNC:29336|4||||||||Ensembl||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||1/5|ENST00000431039.1:c.105+1230_105+1233del|||||||rs3840091||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000433317|lncRNA||2/4|ENST00000433317.1:n.604+252_604+255del|||||||rs3840091||1||HGNC|HGNC:29336|5||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||3/5|ENST00000434221.6:n.751+252_751+255del|||||||rs3840091||1||HGNC|HGNC:29336|3||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-2506_322-2503del|||||||rs3840091||1||HGNC|HGNC:29336|4||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-2506_136-2503del|||||||rs3840091||1||HGNC|HGNC:29336|3||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-2506_204-2503del|||||||rs3840091||1||HGNC|HGNC:29336|4||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||3/4|ENST00000454741.5:n.386+252_386+255del|||||||rs3840091||1||HGNC|HGNC:29336|1||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000469670|retained_intron||1/2|ENST00000469670.1:n.290+1230_290+1233del|||||||rs3840091||-1||HGNC|HGNC:29179|3||||||||Ensembl||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000480563|retained_intron||||||||||rs3840091|4826|-1||HGNC|HGNC:29179|3||||||||Ensembl||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000540665|lncRNA||2/2|ENST00000540665.5:n.789+252_789+255del|||||||rs3840091||1||HGNC|HGNC:29336|1||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||15/20|ENST00000612946.4:c.4863+1230_4863+1233del|||||||rs3840091||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000274342|Transcript|ENST00000615579|misc_RNA||||||||||rs3840091|248|1||||||||||||Ensembl||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654312|lncRNA||||||||||rs3840091|4490|1||HGNC|HGNC:29336|||||||||Ensembl||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655196|lncRNA||2/3|ENST00000655196.1:n.2247+252_2247+255del|||||||rs3840091||1||HGNC|HGNC:29336|||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||2/5|ENST00000655332.1:n.294+252_294+255del|||||||rs3840091||1||HGNC|HGNC:29336|||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-2506_204-2503del|||||||rs3840091||1||HGNC|HGNC:29336|||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-2506_118-2503del|||||||rs3840091||1||HGNC|HGNC:29336|||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000663167|lncRNA||||||||||rs3840091|2506|1||HGNC|HGNC:29336|||||||||Ensembl||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-2506_81-2503del|||||||rs3840091||1||HGNC|HGNC:29336|||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||3/6|ENST00000665376.1:n.384+252_384+255del|||||||rs3840091||1||HGNC|HGNC:29336|||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||3/5|ENST00000665505.1:n.701+252_701+255del|||||||rs3840091||1||HGNC|HGNC:29336|||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665529|lncRNA||1/3|ENST00000665529.1:n.94+252_94+255del|||||||rs3840091||1||HGNC|HGNC:29336|||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||4/5|ENST00000669227.1:n.735+252_735+255del|||||||rs3840091||1||HGNC|HGNC:29336|||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||||||||||rs3840091|4055|1||HGNC|HGNC:29336|||||||||Ensembl||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-2506_318-2503del|||||||rs3840091||1||HGNC|HGNC:29336|||||||||Ensembl||CAGA|CAGA|||3|chr22:g.27994905_27994908del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723559|lncRNA||||||||||rs3840091|4740|1||HGNC|HGNC:29336|||||||||Ensembl||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723560|lncRNA||||||||||rs3840091|4735|1||HGNC|HGNC:29336|||||||||Ensembl||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||17/22|NM_001145418.2:c.5244+1230_5244+1233del|||||||rs3840091||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||17/21|NM_001393403.1:c.5244+1230_5244+1233del|||||||rs3840091||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||16/21|NM_001393404.1:c.4890+1230_4890+1233del|||||||rs3840091||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||16/20|NM_001393405.1:c.4890+1230_4890+1233del|||||||rs3840091||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||3/4|NR_026963.1:n.431+252_431+255del|||||||rs3840091||1||EntrezGene|HGNC:29336|||||||||RefSeq||CAGA|CAGA|OK||3|chr22:g.27994905_27994908del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||17/22|XM_011530018.4:c.5166+1230_5166+1233del|||||||rs3840091||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||17/22|XM_017028673.3:c.5154+1230_5154+1233del|||||||rs3840091||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||17/21|XM_047441214.1:c.5166+1230_5166+1233del|||||||rs3840091||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||17/22|XM_047441215.1:c.4938+1230_4938+1233del|||||||rs3840091||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||CAGA|CAGA||||chr22:g.27994905_27994908del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|38|49|49|-17;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000424161,ENST00000428584,ENST00000430853,ENST00000431039,ENST00000433317,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000469670,ENST00000480563,ENST00000540665,ENST00000612946,ENST00000615579,ENST00000654312,ENST00000655196,ENST00000655332,ENST00000659843,ENST00000662682,ENST00000663167,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000665529,ENST00000669227,ENST00000688200,ENST00000723558,ENST00000723559,ENST00000723560,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000100154,ENSG00000235954,ENSG00000100154,ENSG00000274342,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28-AS1,TTC28,.,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6847;gnomADv4_1_AC_joint_XX=3397;gnomADv4_1_AC_joint_XY=3450;gnomADv4_1_AF_grpmax_joint=0.123685;gnomADv4_1_AF_joint=0.0450117;gnomADv4_1_AF_joint_XX=0.04367;gnomADv4_1_AF_joint_XY=0.0464159;gnomADv4_1_AN_grpmax_joint=5134;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=208;gnomADv4_1_nhomalt_joint_XX=104;gnomADv4_1_nhomalt_joint_XY=104;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27995501 chr22_27995501_T_C T C 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.782;CADD_Rawscore=0.133476;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||17/22|ENST00000397906.7:c.5244+634A>G|||||||rs193260939||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-1910T>C|||||||rs193260939||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||2/3|ENST00000424161.6:n.335+848T>C|||||||rs193260939||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA||2/4|ENST00000428584.5:n.1248+848T>C|||||||rs193260939||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||||||||||rs193260939|2209|1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||1/5|ENST00000431039.1:c.105+634A>G|||||||rs193260939||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000433317|lncRNA||2/4|ENST00000433317.1:n.604+848T>C|||||||rs193260939||1||HGNC|HGNC:29336|5||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||3/5|ENST00000434221.6:n.751+848T>C|||||||rs193260939||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-1910T>C|||||||rs193260939||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-1910T>C|||||||rs193260939||1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-1910T>C|||||||rs193260939||1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||3/4|ENST00000454741.5:n.386+848T>C|||||||rs193260939||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000469670|retained_intron||1/2|ENST00000469670.1:n.290+634A>G|||||||rs193260939||-1||HGNC|HGNC:29179|3||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000540665|lncRNA||2/2|ENST00000540665.5:n.789+848T>C|||||||rs193260939||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||15/20|ENST00000612946.4:c.4863+634A>G|||||||rs193260939||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000274342|Transcript|ENST00000615579|misc_RNA||||||||||rs193260939|847|1||||||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654312|lncRNA||||||||||rs193260939|3894|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655196|lncRNA||2/3|ENST00000655196.1:n.2247+848T>C|||||||rs193260939||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||2/5|ENST00000655332.1:n.294+848T>C|||||||rs193260939||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-1910T>C|||||||rs193260939||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-1910T>C|||||||rs193260939||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000663167|lncRNA||||||||||rs193260939|1910|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-1910T>C|||||||rs193260939||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||3/6|ENST00000665376.1:n.384+848T>C|||||||rs193260939||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||3/5|ENST00000665505.1:n.701+848T>C|||||||rs193260939||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665529|lncRNA||1/3|ENST00000665529.1:n.94+848T>C|||||||rs193260939||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||4/5|ENST00000669227.1:n.735+848T>C|||||||rs193260939||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||||||||||rs193260939|4654|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-1910T>C|||||||rs193260939||1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||17/22|NM_001145418.2:c.5244+634A>G|||||||rs193260939||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||17/21|NM_001393403.1:c.5244+634A>G|||||||rs193260939||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||16/21|NM_001393404.1:c.4890+634A>G|||||||rs193260939||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||16/20|NM_001393405.1:c.4890+634A>G|||||||rs193260939||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||3/4|NR_026963.1:n.431+848T>C|||||||rs193260939||1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK|||chr22:g.27995501T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||17/22|XM_011530018.4:c.5166+634A>G|||||||rs193260939||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||17/22|XM_017028673.3:c.5154+634A>G|||||||rs193260939||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||17/21|XM_047441214.1:c.5166+634A>G|||||||rs193260939||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.27995501T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||17/22|XM_047441215.1:c.4938+634A>G|||||||rs193260939||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.27995501T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|37|-21|5|38;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000424161,ENST00000428584,ENST00000430853,ENST00000431039,ENST00000433317,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000469670,ENST00000540665,ENST00000612946,ENST00000615579,ENST00000654312,ENST00000655196,ENST00000655332,ENST00000659843,ENST00000662682,ENST00000663167,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000665529,ENST00000669227,ENST00000688200,ENST00000723558,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000100154,ENSG00000274342,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28,.,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=888;gnomADv4_1_AC_joint_XX=472;gnomADv4_1_AC_joint_XY=416;gnomADv4_1_AF_grpmax_joint=0.0136054;gnomADv4_1_AF_joint=0.00583144;gnomADv4_1_AF_joint_XX=0.00606575;gnomADv4_1_AF_joint_XY=0.00558659;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152278;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74464;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=15;gnomADv4_1_nhomalt_joint_XX=5;gnomADv4_1_nhomalt_joint_XY=10;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27995798 chr22_27995798_C_G C G 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=4.997;CADD_Rawscore=0.45554;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||17/22|ENST00000397906.7:c.5244+337G>C|||||||rs738475||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-1613C>G|||||||rs738475||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||2/3|ENST00000424161.6:n.335+1145C>G|||||||rs738475||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA||2/4|ENST00000428584.5:n.1248+1145C>G|||||||rs738475||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||||||||||rs738475|2506|1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||1/5|ENST00000431039.1:c.105+337G>C|||||||rs738475||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000433317|lncRNA||2/4|ENST00000433317.1:n.604+1145C>G|||||||rs738475||1||HGNC|HGNC:29336|5||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||3/5|ENST00000434221.6:n.751+1145C>G|||||||rs738475||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-1613C>G|||||||rs738475||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-1613C>G|||||||rs738475||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-1613C>G|||||||rs738475||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||3/4|ENST00000454741.5:n.386+1145C>G|||||||rs738475||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000469670|retained_intron||1/2|ENST00000469670.1:n.290+337G>C|||||||rs738475||-1||HGNC|HGNC:29179|3||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000540665|lncRNA||2/2|ENST00000540665.5:n.789+1145C>G|||||||rs738475||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||15/20|ENST00000612946.4:c.4863+337G>C|||||||rs738475||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000274342|Transcript|ENST00000615579|misc_RNA||||||||||rs738475|1144|1||||||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654312|lncRNA||||||||||rs738475|3597|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655196|lncRNA||2/3|ENST00000655196.1:n.2247+1145C>G|||||||rs738475||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||2/5|ENST00000655332.1:n.294+1145C>G|||||||rs738475||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-1613C>G|||||||rs738475||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-1613C>G|||||||rs738475||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000663167|lncRNA||||||||||rs738475|1613|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-1613C>G|||||||rs738475||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||3/6|ENST00000665376.1:n.384+1145C>G|||||||rs738475||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||3/5|ENST00000665505.1:n.701+1145C>G|||||||rs738475||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665529|lncRNA||1/3|ENST00000665529.1:n.94+1145C>G|||||||rs738475||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||4/5|ENST00000669227.1:n.735+1145C>G|||||||rs738475||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000688200|lncRNA||||||||||rs738475|4951|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-1613C>G|||||||rs738475||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||17/22|NM_001145418.2:c.5244+337G>C|||||||rs738475||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||17/21|NM_001393403.1:c.5244+337G>C|||||||rs738475||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||16/21|NM_001393404.1:c.4890+337G>C|||||||rs738475||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||16/20|NM_001393405.1:c.4890+337G>C|||||||rs738475||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||3/4|NR_026963.1:n.431+1145C>G|||||||rs738475||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27995798C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||17/22|XM_011530018.4:c.5166+337G>C|||||||rs738475||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||17/22|XM_017028673.3:c.5154+337G>C|||||||rs738475||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||17/21|XM_047441214.1:c.5166+337G>C|||||||rs738475||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.27995798C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||17/22|XM_047441215.1:c.4938+337G>C|||||||rs738475||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.27995798C>G|||||||||||||;SpliceAI=G|TTC28|0.06|0.00|0.00|0.00|38|-39|38|39;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000424161,ENST00000428584,ENST00000430853,ENST00000431039,ENST00000433317,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000469670,ENST00000540665,ENST00000612946,ENST00000615579,ENST00000654312,ENST00000655196,ENST00000655332,ENST00000659843,ENST00000662682,ENST00000663167,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000665529,ENST00000669227,ENST00000688200,ENST00000723558,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000100154,ENSG00000274342,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28,.,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48191;gnomADv4_1_AC_joint_XX=24346;gnomADv4_1_AC_joint_XY=23845;gnomADv4_1_AF_grpmax_joint=0.499223;gnomADv4_1_AF_joint=0.316817;gnomADv4_1_AF_joint_XX=0.313035;gnomADv4_1_AF_joint_XY=0.320773;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7931;gnomADv4_1_nhomalt_joint_XX=3957;gnomADv4_1_nhomalt_joint_XY=3974;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27997100 chr22_27997100_C_T C T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.76;CADD_Rawscore=-0.088124;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||16/22|ENST00000397906.7:c.5120-841G>A|||||||rs138649||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-311C>T|||||||rs138649||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||2/3|ENST00000424161.6:n.336-311C>T|||||||rs138649||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA||2/4|ENST00000428584.5:n.1249-311C>T|||||||rs138649||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||||||||||rs138649|3808|1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||||||||||rs138649|861|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000433317|lncRNA||2/4|ENST00000433317.1:n.605-311C>T|||||||rs138649||1||HGNC|HGNC:29336|5||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||3/5|ENST00000434221.6:n.752-311C>T|||||||rs138649||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-311C>T|||||||rs138649||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-311C>T|||||||rs138649||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-311C>T|||||||rs138649||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||3/4|ENST00000454741.5:n.387-311C>T|||||||rs138649||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000469670|retained_intron||||||||||rs138649|676|-1||HGNC|HGNC:29179|3||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000540665|lncRNA||2/2|ENST00000540665.5:n.790-311C>T|||||||rs138649||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||14/20|ENST00000612946.4:c.4739-841G>A|||||||rs138649||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000274342|Transcript|ENST00000615579|misc_RNA||||||||||rs138649|2446|1||||||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654312|lncRNA||||||||||rs138649|2295|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655196|lncRNA||2/3|ENST00000655196.1:n.2248-311C>T|||||||rs138649||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||2/5|ENST00000655332.1:n.295-311C>T|||||||rs138649||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-311C>T|||||||rs138649||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-311C>T|||||||rs138649||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000663167|lncRNA||||||||||rs138649|311|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-311C>T|||||||rs138649||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||3/6|ENST00000665376.1:n.385-311C>T|||||||rs138649||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||3/5|ENST00000665505.1:n.702-311C>T|||||||rs138649||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665529|lncRNA||1/3|ENST00000665529.1:n.95-311C>T|||||||rs138649||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||4/5|ENST00000669227.1:n.736-311C>T|||||||rs138649||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-311C>T|||||||rs138649||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||16/22|NM_001145418.2:c.5120-841G>A|||||||rs138649||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||16/21|NM_001393403.1:c.5120-841G>A|||||||rs138649||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||15/21|NM_001393404.1:c.4766-841G>A|||||||rs138649||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||15/20|NM_001393405.1:c.4766-841G>A|||||||rs138649||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||3/4|NR_026963.1:n.432-311C>T|||||||rs138649||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27997100C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||16/22|XM_011530018.4:c.5042-841G>A|||||||rs138649||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||16/22|XM_017028673.3:c.5030-841G>A|||||||rs138649||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||16/21|XM_047441214.1:c.5042-841G>A|||||||rs138649||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.27997100C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||16/22|XM_047441215.1:c.4814-841G>A|||||||rs138649||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.27997100C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.01|0.00|45|4|45|-18;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000424161,ENST00000428584,ENST00000430853,ENST00000431039,ENST00000433317,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000469670,ENST00000540665,ENST00000612946,ENST00000615579,ENST00000654312,ENST00000655196,ENST00000655332,ENST00000659843,ENST00000662682,ENST00000663167,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000665529,ENST00000669227,ENST00000723558,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000100154,ENSG00000274342,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28,.,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151018;gnomADv4_1_AC_joint_XX=77203;gnomADv4_1_AC_joint_XY=73815;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.991283;gnomADv4_1_AF_joint_XX=0.99146;gnomADv4_1_AF_joint_XY=0.991098;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152346;gnomADv4_1_AN_joint_XX=77868;gnomADv4_1_AN_joint_XY=74478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=74856;gnomADv4_1_nhomalt_joint_XX=38274;gnomADv4_1_nhomalt_joint_XY=36582;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 27997168 chr22_27997168_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.785;CADD_Rawscore=-0.079775;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||16/22|ENST00000397906.7:c.5120-909G>A|||||||rs188458246||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||2/3|ENST00000417497.6:n.239-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||2/3|ENST00000424161.6:n.336-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA||2/4|ENST00000428584.5:n.1249-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||||||||||rs188458246|3876|1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||||||||||rs188458246|929|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000433317|lncRNA||2/4|ENST00000433317.1:n.605-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|5||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||3/5|ENST00000434221.6:n.752-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||3/6|ENST00000435348.6:n.322-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||2/4|ENST00000452612.5:n.136-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||2/3|ENST00000453632.6:n.204-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||3/4|ENST00000454741.5:n.387-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000469670|retained_intron||||||||||rs188458246|744|-1||HGNC|HGNC:29179|3||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000540665|lncRNA||2/2|ENST00000540665.5:n.790-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||14/20|ENST00000612946.4:c.4739-909G>A|||||||rs188458246||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000274342|Transcript|ENST00000615579|misc_RNA||||||||||rs188458246|2514|1||||||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654312|lncRNA||||||||||rs188458246|2227|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655196|lncRNA||2/3|ENST00000655196.1:n.2248-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||2/5|ENST00000655332.1:n.295-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||2/5|ENST00000659843.1:n.204-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||1/2|ENST00000662682.1:n.118-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000663167|lncRNA||||||||||rs188458246|243|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||1/2|ENST00000664946.1:n.81-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||3/6|ENST00000665376.1:n.385-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||3/5|ENST00000665505.1:n.702-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665529|lncRNA||1/3|ENST00000665529.1:n.95-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||4/5|ENST00000669227.1:n.736-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||3/3|ENST00000723558.1:n.318-243C>T|||||||rs188458246||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||16/22|NM_001145418.2:c.5120-909G>A|||||||rs188458246||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||16/21|NM_001393403.1:c.5120-909G>A|||||||rs188458246||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||15/21|NM_001393404.1:c.4766-909G>A|||||||rs188458246||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||15/20|NM_001393405.1:c.4766-909G>A|||||||rs188458246||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||3/4|NR_026963.1:n.432-243C>T|||||||rs188458246||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27997168C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||16/22|XM_011530018.4:c.5042-909G>A|||||||rs188458246||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||16/22|XM_017028673.3:c.5030-909G>A|||||||rs188458246||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||16/21|XM_047441214.1:c.5042-909G>A|||||||rs188458246||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.27997168C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||16/22|XM_047441215.1:c.4814-909G>A|||||||rs188458246||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.27997168C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-6|47|35|-23;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000424161,ENST00000428584,ENST00000430853,ENST00000431039,ENST00000433317,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000469670,ENST00000540665,ENST00000612946,ENST00000615579,ENST00000654312,ENST00000655196,ENST00000655332,ENST00000659843,ENST00000662682,ENST00000663167,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000665529,ENST00000669227,ENST00000723558,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000100154,ENSG00000274342,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28,.,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=245;gnomADv4_1_AC_joint_XX=115;gnomADv4_1_AC_joint_XY=130;gnomADv4_1_AF_grpmax_joint=0.00214636;gnomADv4_1_AF_joint=0.00160854;gnomADv4_1_AF_joint_XX=0.00147739;gnomADv4_1_AF_joint_XY=0.00174562;gnomADv4_1_AN_grpmax_joint=68022;gnomADv4_1_AN_joint=152312;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 27997552 chr22_27997552_C_T C T 35 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.233;CADD_Rawscore=0.03679;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||16/22|ENST00000397906.7:c.5119+988G>A|||||||rs138650||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA|3/4||ENST00000417497.6:n.380C>T||380|||||rs138650||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA|3/4||ENST00000424161.6:n.477C>T||477|||||rs138650||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA|3/5||ENST00000428584.5:n.1390C>T||1390|||||rs138650||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000430853|lncRNA||||||||||rs138650|4260|1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||||||||||rs138650|1313|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000433317|lncRNA|3/5||ENST00000433317.1:n.746C>T||746|||||rs138650||1||HGNC|HGNC:29336|5||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA|4/6||ENST00000434221.6:n.893C>T||893|||||rs138650||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA|4/7||ENST00000435348.6:n.463C>T||463|||||rs138650||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA|3/5||ENST00000452612.5:n.277C>T||277|||||rs138650||1||HGNC|HGNC:29336|3||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA|3/4||ENST00000453632.6:n.345C>T||345|||||rs138650||1||HGNC|HGNC:29336|4||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA|4/5||ENST00000454741.5:n.528C>T||528|||||rs138650||1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000469670|retained_intron||||||||||rs138650|1128|-1||HGNC|HGNC:29179|3||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000540665|lncRNA||||||||||rs138650|129|1||HGNC|HGNC:29336|1||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||14/20|ENST00000612946.4:c.4738+988G>A|||||||rs138650||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000274342|Transcript|ENST00000615579|misc_RNA||||||||||rs138650|2898|1||||||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000276675|Transcript|ENST00000619378|misc_RNA||||||||||rs138650|4932|1||||||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654312|lncRNA||||||||||rs138650|1843|1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655196|lncRNA|3/4||ENST00000655196.1:n.2389C>T||2389|||||rs138650||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA|3/6||ENST00000655332.1:n.436C>T||436|||||rs138650||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA|3/6||ENST00000659843.1:n.345C>T||345|||||rs138650||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA|2/3||ENST00000662682.1:n.259C>T||259|||||rs138650||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000663167|lncRNA|1/4||ENST00000663167.1:n.142C>T||142|||||rs138650||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA|2/3||ENST00000664946.1:n.222C>T||222|||||rs138650||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA|4/7||ENST00000665376.1:n.526C>T||526|||||rs138650||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA|4/6||ENST00000665505.1:n.843C>T||843|||||rs138650||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665529|lncRNA|2/4||ENST00000665529.1:n.236C>T||236|||||rs138650||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA|5/6||ENST00000669227.1:n.877C>T||877|||||rs138650||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA|4/4||ENST00000723558.1:n.459C>T||459|||||rs138650||1||HGNC|HGNC:29336|||||||||Ensembl||C|C||||chr22:g.27997552C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||16/22|NM_001145418.2:c.5119+988G>A|||||||rs138650||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.27997552C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||16/21|NM_001393403.1:c.5119+988G>A|||||||rs138650||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.27997552C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||15/21|NM_001393404.1:c.4765+988G>A|||||||rs138650||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.27997552C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||15/20|NM_001393405.1:c.4765+988G>A|||||||rs138650||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.27997552C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA|4/5||NR_026963.1:n.573C>T||573|||||rs138650||1||EntrezGene|HGNC:29336|||||||||RefSeq||C|C|OK|||chr22:g.27997552C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||16/22|XM_011530018.4:c.5041+988G>A|||||||rs138650||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.27997552C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||16/22|XM_017028673.3:c.5029+988G>A|||||||rs138650||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.27997552C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||16/21|XM_047441214.1:c.5041+988G>A|||||||rs138650||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.27997552C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||16/22|XM_047441215.1:c.4813+988G>A|||||||rs138650||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.27997552C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-50|-1|-10|-49;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000424161,ENST00000428584,ENST00000430853,ENST00000431039,ENST00000433317,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000469670,ENST00000540665,ENST00000612946,ENST00000615579,ENST00000619378,ENST00000654312,ENST00000655196,ENST00000655332,ENST00000659843,ENST00000662682,ENST00000663167,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000665529,ENST00000669227,ENST00000723558,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000100154,ENSG00000274342,ENSG00000276675,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28,.,.,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90426;gnomADv4_1_AC_joint_XX=45874;gnomADv4_1_AC_joint_XY=44552;gnomADv4_1_AF_grpmax_joint=0.77667;gnomADv4_1_AF_joint=0.594337;gnomADv4_1_AF_joint_XX=0.589913;gnomADv4_1_AF_joint_XY=0.598962;gnomADv4_1_AN_grpmax_joint=41526;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=28134;gnomADv4_1_nhomalt_joint_XX=14167;gnomADv4_1_nhomalt_joint_XY=13967;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28000879 chr22_28000879_A_C A C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.345;CADD_Rawscore=-0.286409;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||15/22|ENST00000397906.7:c.4398+495T>G|||||||rs138652||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA|4/4||ENST00000417497.6:n.2017A>C||2017|||||rs138652||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA|4/4||ENST00000424161.6:n.3213A>C||3213|||||rs138652||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA|4/5||ENST00000428584.5:n.3027A>C||3027|||||rs138652||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000431039|protein_coding||||||||||rs138652|4640|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:29179|3||ENSP00000410244||B0QYP5.84|UPI000161102D|||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000433317|lncRNA||||||||||rs138652|156|1||HGNC|HGNC:29336|5||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA|5/6||ENST00000434221.6:n.3629A>C||3629|||||rs138652||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||5/6|ENST00000435348.6:n.2758-17A>C|||||||rs138652||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||||||||||rs138652|1403|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA|4/4||ENST00000453632.6:n.3081A>C||3081|||||rs138652||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA|5/5||ENST00000454741.5:n.3264A>C||3264|||||rs138652||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000469670|retained_intron||||||||||rs138652|4455|-1||HGNC|HGNC:29179|3||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000540665|lncRNA||||||||||rs138652|3456|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||13/20|ENST00000612946.4:c.4017+495T>G|||||||rs138652||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000276675|Transcript|ENST00000619378|misc_RNA||||||||||rs138652|1605|1||||||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654312|lncRNA|1/2||ENST00000654312.1:n.1485A>C||1485|||||rs138652||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655196|lncRNA|4/4||ENST00000655196.1:n.5125A>C||5125|||||rs138652||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA|6/6||ENST00000655332.1:n.2475A>C||2475|||||rs138652||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA|6/6||ENST00000659843.1:n.2384A>C||2384|||||rs138652||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA|3/3||ENST00000662682.1:n.2995A>C||2995|||||rs138652||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000663167|lncRNA|4/4||ENST00000663167.1:n.2095A>C||2095|||||rs138652||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA|3/3||ENST00000664946.1:n.1859A>C||1859|||||rs138652||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA|7/7||ENST00000665376.1:n.2565A>C||2565|||||rs138652||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA|6/6||ENST00000665505.1:n.3128A>C||3128|||||rs138652||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665529|lncRNA|4/4||ENST00000665529.1:n.2108A>C||2108|||||rs138652||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA|6/6||ENST00000669227.1:n.3613A>C||3613|||||rs138652||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||||||||||rs138652|3274|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28000879A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||15/22|NM_001145418.2:c.4398+495T>G|||||||rs138652||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28000879A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||15/21|NM_001393403.1:c.4398+495T>G|||||||rs138652||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28000879A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||14/21|NM_001393404.1:c.4044+495T>G|||||||rs138652||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28000879A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||14/20|NM_001393405.1:c.4044+495T>G|||||||rs138652||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28000879A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA|5/5||NR_026963.1:n.3309A>C||3309|||||rs138652||1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.28000879A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||15/22|XM_011530018.4:c.4320+495T>G|||||||rs138652||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28000879A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||15/22|XM_017028673.3:c.4308+495T>G|||||||rs138652||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28000879A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||15/21|XM_047441214.1:c.4320+495T>G|||||||rs138652||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28000879A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||15/22|XM_047441215.1:c.4092+495T>G|||||||rs138652||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28000879A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|1|2|27|2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000424161,ENST00000428584,ENST00000431039,ENST00000433317,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000469670,ENST00000540665,ENST00000612946,ENST00000619378,ENST00000654312,ENST00000655196,ENST00000655332,ENST00000659843,ENST00000662682,ENST00000663167,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000665529,ENST00000669227,ENST00000723558,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000235954,ENSG00000100154,ENSG00000276675,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28-AS1,TTC28,.,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29943;gnomADv4_1_AC_joint_XX=15156;gnomADv4_1_AC_joint_XY=14787;gnomADv4_1_AF_grpmax_joint=0.355799;gnomADv4_1_AF_joint=0.19139;gnomADv4_1_AF_joint_XX=0.189597;gnomADv4_1_AF_joint_XY=0.193264;gnomADv4_1_AN_grpmax_joint=5104;gnomADv4_1_AN_joint=156450;gnomADv4_1_AN_joint_XX=79938;gnomADv4_1_AN_joint_XY=76512;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3149;gnomADv4_1_nhomalt_joint_XX=1580;gnomADv4_1_nhomalt_joint_XY=1569;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28002540 chr22_28002540_A_G A G 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=7.24;CADD_Rawscore=0.684327;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||14/22|ENST00000397906.7:c.4219-987T>C|||||||rs138657||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA|4/4||ENST00000417497.6:n.3678A>G||3678|||||rs138657||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA|4/4||ENST00000424161.6:n.4874A>G||4874|||||rs138657||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA||4/4|ENST00000428584.5:n.3806+882A>G|||||||rs138657||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000433317|lncRNA||||||||||rs138657|1817|1||HGNC|HGNC:29336|5||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA|6/6||ENST00000434221.6:n.4732A>G||4732|||||rs138657||1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA|7/7||ENST00000435348.6:n.3844A>G||3844|||||rs138657||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000452612|lncRNA||||||||||rs138657|3064|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA|4/4||ENST00000453632.6:n.4742A>G||4742|||||rs138657||1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA|5/5||ENST00000454741.5:n.4925A>G||4925|||||rs138657||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||12/20|ENST00000612946.4:c.3838-987T>C|||||||rs138657||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000276675|Transcript|ENST00000619378|misc_RNA|1/1||ENST00000619378.1:n.57A>G||57|||||rs138657||1||||||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654312|lncRNA|2/2||ENST00000654312.1:n.2588A>G||2588|||||rs138657||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655196|lncRNA|4/4||ENST00000655196.1:n.6786A>G||6786|||||rs138657||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA|6/6||ENST00000655332.1:n.4136A>G||4136|||||rs138657||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA|6/6||ENST00000659843.1:n.4045A>G||4045|||||rs138657||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA|3/3||ENST00000662682.1:n.4656A>G||4656|||||rs138657||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000663167|lncRNA|4/4||ENST00000663167.1:n.3756A>G||3756|||||rs138657||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA|3/3||ENST00000664946.1:n.3520A>G||3520|||||rs138657||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA|7/7||ENST00000665376.1:n.4226A>G||4226|||||rs138657||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA|6/6||ENST00000665505.1:n.4789A>G||4789|||||rs138657||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665529|lncRNA|4/4||ENST00000665529.1:n.3769A>G||3769|||||rs138657||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA|6/6||ENST00000669227.1:n.5274A>G||5274|||||rs138657||1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000723558|lncRNA||||||||||rs138657|4935|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28002540A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||14/22|NM_001145418.2:c.4219-987T>C|||||||rs138657||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28002540A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||14/21|NM_001393403.1:c.4219-987T>C|||||||rs138657||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28002540A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||13/21|NM_001393404.1:c.3865-987T>C|||||||rs138657||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28002540A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||13/20|NM_001393405.1:c.3865-987T>C|||||||rs138657||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28002540A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA|5/5||NR_026963.1:n.4970A>G||4970|||||rs138657||1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.28002540A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||14/22|XM_011530018.4:c.4141-987T>C|||||||rs138657||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28002540A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||14/22|XM_017028673.3:c.4129-987T>C|||||||rs138657||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28002540A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||14/21|XM_047441214.1:c.4141-987T>C|||||||rs138657||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28002540A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||14/22|XM_047441215.1:c.3913-987T>C|||||||rs138657||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28002540A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8S877|enhancer||||||||||rs138657|||||||||||||||||||||chr22:g.28002540A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|48|-14|30|-14;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000424161,ENST00000428584,ENST00000433317,ENST00000434221,ENST00000435348,ENST00000452612,ENST00000453632,ENST00000454741,ENST00000612946,ENST00000619378,ENST00000654312,ENST00000655196,ENST00000655332,ENST00000659843,ENST00000662682,ENST00000663167,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000665529,ENST00000669227,ENST00000723558,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,ENSR22_8S877;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000276675,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,.,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80808;gnomADv4_1_AC_joint_XX=41055;gnomADv4_1_AC_joint_XY=39753;gnomADv4_1_AF_grpmax_joint=0.618594;gnomADv4_1_AF_joint=0.531555;gnomADv4_1_AF_joint_XX=0.528242;gnomADv4_1_AF_joint_XY=0.535019;gnomADv4_1_AN_grpmax_joint=41486;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=21766;gnomADv4_1_nhomalt_joint_XX=10994;gnomADv4_1_nhomalt_joint_XY=10772;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28005439 chr22_28005439_A_G A G 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.376;CADD_Rawscore=0.209911;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||14/22|ENST00000397906.7:c.4219-3886T>C|||||||rs5762446||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||||||||||rs5762446|2844|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||||||||||rs5762446|2851|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA||4/4|ENST00000428584.5:n.3807-1090A>G|||||||rs5762446||1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000433317|lncRNA||||||||||rs5762446|4716|1||HGNC|HGNC:29336|5||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||||||||||rs5762446|2827|1||HGNC|HGNC:29336|3||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||||||||||rs5762446|2799|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||||||||||rs5762446|2851|1||HGNC|HGNC:29336|4||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||||||||||rs5762446|2760|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||12/20|ENST00000612946.4:c.3838-3886T>C|||||||rs5762446||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000276675|Transcript|ENST00000619378|misc_RNA||||||||||rs5762446|2844|1||||||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654312|lncRNA||||||||||rs5762446|2827|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655196|lncRNA||||||||||rs5762446|2851|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||||||||||rs5762446|2851|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||||||||||rs5762446|2798|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||||||||||rs5762446|2851|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000663167|lncRNA||||||||||rs5762446|2851|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||||||||||rs5762446|2773|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||||||||||rs5762446|2799|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||||||||||rs5762446|2803|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665529|lncRNA||||||||||rs5762446|2837|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||||||||||rs5762446|2851|1||HGNC|HGNC:29336|||||||||Ensembl||A|A||||chr22:g.28005439A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||14/22|NM_001145418.2:c.4219-3886T>C|||||||rs5762446||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28005439A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||14/21|NM_001393403.1:c.4219-3886T>C|||||||rs5762446||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28005439A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||13/21|NM_001393404.1:c.3865-3886T>C|||||||rs5762446||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28005439A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||13/20|NM_001393405.1:c.3865-3886T>C|||||||rs5762446||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28005439A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||||||||||rs5762446|2760|1||EntrezGene|HGNC:29336|||||||||RefSeq||A|A|OK|||chr22:g.28005439A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||14/22|XM_011530018.4:c.4141-3886T>C|||||||rs5762446||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28005439A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||14/22|XM_017028673.3:c.4129-3886T>C|||||||rs5762446||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28005439A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||14/21|XM_047441214.1:c.4141-3886T>C|||||||rs5762446||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28005439A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||14/22|XM_047441215.1:c.3913-3886T>C|||||||rs5762446||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28005439A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-34|-24|-8|4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000424161,ENST00000428584,ENST00000433317,ENST00000434221,ENST00000435348,ENST00000453632,ENST00000454741,ENST00000612946,ENST00000619378,ENST00000654312,ENST00000655196,ENST00000655332,ENST00000659843,ENST00000662682,ENST00000663167,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000665529,ENST00000669227,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000276675,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,.,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8776;gnomADv4_1_AC_joint_XX=4324;gnomADv4_1_AC_joint_XY=4452;gnomADv4_1_AF_grpmax_joint=0.146645;gnomADv4_1_AF_joint=0.0576367;gnomADv4_1_AF_joint_XX=0.0555627;gnomADv4_1_AF_joint_XY=0.0598049;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152264;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=339;gnomADv4_1_nhomalt_joint_XX=157;gnomADv4_1_nhomalt_joint_XY=182;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28006636 chr22_28006636_T_C T C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.865;CADD_Rawscore=-0.055139;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||14/22|ENST00000397906.7:c.4219-5083A>G|||||||rs6005693||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000417497|lncRNA||||||||||rs6005693|4041|1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000424161|lncRNA||||||||||rs6005693|4048|1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA|5/5||ENST00000428584.5:n.3914T>C||3914|||||rs6005693||1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000434221|lncRNA||||||||||rs6005693|4024|1||HGNC|HGNC:29336|3||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000435348|lncRNA||||||||||rs6005693|3996|1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000453632|lncRNA||||||||||rs6005693|4048|1||HGNC|HGNC:29336|4||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000454741|lncRNA||||||||||rs6005693|3957|1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||12/20|ENST00000612946.4:c.3838-5083A>G|||||||rs6005693||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000276675|Transcript|ENST00000619378|misc_RNA||||||||||rs6005693|4041|1||||||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000654312|lncRNA||||||||||rs6005693|4024|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655196|lncRNA||||||||||rs6005693|4048|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000655332|lncRNA||||||||||rs6005693|4048|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000659843|lncRNA||||||||||rs6005693|3995|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000662682|lncRNA||||||||||rs6005693|4048|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000663167|lncRNA||||||||||rs6005693|4048|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000664946|lncRNA||||||||||rs6005693|3970|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665376|lncRNA||||||||||rs6005693|3996|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665505|lncRNA||||||||||rs6005693|4000|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000665529|lncRNA||||||||||rs6005693|4034|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000669227|lncRNA||||||||||rs6005693|4048|1||HGNC|HGNC:29336|||||||||Ensembl||T|T||||chr22:g.28006636T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||14/22|NM_001145418.2:c.4219-5083A>G|||||||rs6005693||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28006636T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||14/21|NM_001393403.1:c.4219-5083A>G|||||||rs6005693||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28006636T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||13/21|NM_001393404.1:c.3865-5083A>G|||||||rs6005693||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28006636T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||13/20|NM_001393405.1:c.3865-5083A>G|||||||rs6005693||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28006636T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|284900|Transcript|NR_026963.1|lncRNA||||||||||rs6005693|3957|1||EntrezGene|HGNC:29336|||||||||RefSeq||T|T|OK|||chr22:g.28006636T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||14/22|XM_011530018.4:c.4141-5083A>G|||||||rs6005693||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28006636T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||14/22|XM_017028673.3:c.4129-5083A>G|||||||rs6005693||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28006636T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||14/21|XM_047441214.1:c.4141-5083A>G|||||||rs6005693||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28006636T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||14/22|XM_047441215.1:c.3913-5083A>G|||||||rs6005693||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28006636T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|14|-24|40|-24;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000417497,ENST00000424161,ENST00000428584,ENST00000434221,ENST00000435348,ENST00000453632,ENST00000454741,ENST00000612946,ENST00000619378,ENST00000654312,ENST00000655196,ENST00000655332,ENST00000659843,ENST00000662682,ENST00000663167,ENST00000664946,ENST00000665376,ENST00000665505,ENST00000665529,ENST00000669227,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,NR_026963.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000100154,ENSG00000276675,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,ENSG00000235954,23331,23331,23331,23331,284900,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,.,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37776;gnomADv4_1_AC_joint_XX=19139;gnomADv4_1_AC_joint_XY=18637;gnomADv4_1_AF_grpmax_joint=0.43249;gnomADv4_1_AF_joint=0.24819;gnomADv4_1_AF_joint_XX=0.245971;gnomADv4_1_AF_joint_XY=0.250511;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=152206;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5203;gnomADv4_1_nhomalt_joint_XX=2584;gnomADv4_1_nhomalt_joint_XY=2619;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28011456 chr22_28011456_T_C T C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.771;CADD_Rawscore=-0.084537;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||14/22|ENST00000397906.7:c.4218+2792A>G|||||||rs138666||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28011456T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA||||||||||rs138666|2875|1||HGNC|HGNC:29336|1||||||||Ensembl||T|T||||chr22:g.28011456T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||12/20|ENST00000612946.4:c.3837+2792A>G|||||||rs138666||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28011456T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||14/22|NM_001145418.2:c.4218+2792A>G|||||||rs138666||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28011456T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||14/21|NM_001393403.1:c.4218+2792A>G|||||||rs138666||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28011456T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||13/21|NM_001393404.1:c.3864+2792A>G|||||||rs138666||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28011456T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||13/20|NM_001393405.1:c.3864+2792A>G|||||||rs138666||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28011456T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||14/22|XM_011530018.4:c.4140+2792A>G|||||||rs138666||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28011456T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||14/22|XM_017028673.3:c.4128+2792A>G|||||||rs138666||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28011456T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||14/21|XM_047441214.1:c.4140+2792A>G|||||||rs138666||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28011456T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||14/22|XM_047441215.1:c.3912+2792A>G|||||||rs138666||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28011456T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-34|-28|-23|15;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000428584,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50611;gnomADv4_1_AC_joint_XX=25770;gnomADv4_1_AC_joint_XY=24841;gnomADv4_1_AF_grpmax_joint=0.439441;gnomADv4_1_AF_joint=0.333274;gnomADv4_1_AF_joint_XX=0.331848;gnomADv4_1_AF_joint_XY=0.334766;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151860;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8712;gnomADv4_1_nhomalt_joint_XX=4406;gnomADv4_1_nhomalt_joint_XY=4306;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28012456 chr22_28012456_A_C A C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.301;CADD_Rawscore=0.05074;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||14/22|ENST00000397906.7:c.4218+1792T>G|||||||rs5762448||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28012456A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA||||||||||rs5762448|3875|1||HGNC|HGNC:29336|1||||||||Ensembl||A|A||||chr22:g.28012456A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||12/20|ENST00000612946.4:c.3837+1792T>G|||||||rs5762448||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28012456A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||14/22|NM_001145418.2:c.4218+1792T>G|||||||rs5762448||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28012456A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||14/21|NM_001393403.1:c.4218+1792T>G|||||||rs5762448||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28012456A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||13/21|NM_001393404.1:c.3864+1792T>G|||||||rs5762448||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28012456A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||13/20|NM_001393405.1:c.3864+1792T>G|||||||rs5762448||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28012456A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||14/22|XM_011530018.4:c.4140+1792T>G|||||||rs5762448||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28012456A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||14/22|XM_017028673.3:c.4128+1792T>G|||||||rs5762448||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28012456A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||14/21|XM_047441214.1:c.4140+1792T>G|||||||rs5762448||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28012456A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||14/22|XM_047441215.1:c.3912+1792T>G|||||||rs5762448||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28012456A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|48|-12|-31|14;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000428584,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32491;gnomADv4_1_AC_joint_XX=16869;gnomADv4_1_AC_joint_XY=15622;gnomADv4_1_AF_grpmax_joint=0.35335;gnomADv4_1_AF_joint=0.21361;gnomADv4_1_AF_joint_XX=0.216987;gnomADv4_1_AF_joint_XY=0.21008;gnomADv4_1_AN_grpmax_joint=41466;gnomADv4_1_AN_joint=152104;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4004;gnomADv4_1_nhomalt_joint_XX=2095;gnomADv4_1_nhomalt_joint_XY=1909;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28013174 chr22_28013174_G_A G A 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.256;CADD_Rawscore=-0.362278;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||14/22|ENST00000397906.7:c.4218+1074C>T|||||||rs5762449||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28013174G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28-AS1|ENSG00000235954|Transcript|ENST00000428584|lncRNA||||||||||rs5762449|4593|1||HGNC|HGNC:29336|1||||||||Ensembl||G|G||||chr22:g.28013174G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||12/20|ENST00000612946.4:c.3837+1074C>T|||||||rs5762449||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28013174G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||14/22|NM_001145418.2:c.4218+1074C>T|||||||rs5762449||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28013174G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||14/21|NM_001393403.1:c.4218+1074C>T|||||||rs5762449||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28013174G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||13/21|NM_001393404.1:c.3864+1074C>T|||||||rs5762449||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28013174G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||13/20|NM_001393405.1:c.3864+1074C>T|||||||rs5762449||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28013174G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||14/22|XM_011530018.4:c.4140+1074C>T|||||||rs5762449||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28013174G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||14/22|XM_017028673.3:c.4128+1074C>T|||||||rs5762449||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28013174G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||14/21|XM_047441214.1:c.4140+1074C>T|||||||rs5762449||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28013174G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||14/22|XM_047441215.1:c.3912+1074C>T|||||||rs5762449||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28013174G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-5|8|2|-11;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000428584,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000235954,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28-AS1,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6538;gnomADv4_1_AC_joint_XX=3145;gnomADv4_1_AC_joint_XY=3393;gnomADv4_1_AF_grpmax_joint=0.137438;gnomADv4_1_AF_joint=0.0429296;gnomADv4_1_AF_joint_XX=0.0404034;gnomADv4_1_AF_joint_XY=0.0455705;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152296;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=211;gnomADv4_1_nhomalt_joint_XX=93;gnomADv4_1_nhomalt_joint_XY=118;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28013784 chr22_28013784_T_G T G 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.39;CADD_Rawscore=-0.255383;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||14/22|ENST00000397906.7:c.4218+464A>C|||||||rs138675||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28013784T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||12/20|ENST00000612946.4:c.3837+464A>C|||||||rs138675||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28013784T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||14/22|NM_001145418.2:c.4218+464A>C|||||||rs138675||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28013784T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||14/21|NM_001393403.1:c.4218+464A>C|||||||rs138675||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28013784T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||13/21|NM_001393404.1:c.3864+464A>C|||||||rs138675||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28013784T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||13/20|NM_001393405.1:c.3864+464A>C|||||||rs138675||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28013784T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||14/22|XM_011530018.4:c.4140+464A>C|||||||rs138675||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28013784T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||14/22|XM_017028673.3:c.4128+464A>C|||||||rs138675||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28013784T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||14/21|XM_047441214.1:c.4140+464A>C|||||||rs138675||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28013784T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||14/22|XM_047441215.1:c.3912+464A>C|||||||rs138675||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28013784T>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|3|23|3|-1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91091;gnomADv4_1_AC_joint_XX=46191;gnomADv4_1_AC_joint_XY=44900;gnomADv4_1_AF_grpmax_joint=0.72426;gnomADv4_1_AF_joint=0.601031;gnomADv4_1_AF_joint_XX=0.596074;gnomADv4_1_AF_joint_XY=0.606216;gnomADv4_1_AN_grpmax_joint=4798;gnomADv4_1_AN_joint=151558;gnomADv4_1_AN_joint_XX=77492;gnomADv4_1_AN_joint_XY=74066;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=27882;gnomADv4_1_nhomalt_joint_XX=14001;gnomADv4_1_nhomalt_joint_XY=13881;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28015419 chr22_28015419_T_TAA T TAA 16 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=16;CADDIndel_PHREDscore=0.202;CADDIndel_Rawscore=-0.424736;CSQ=AA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||13/22|ENST00000397906.7:c.4074-1029_4074-1028dup|||||||rs138678||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28015441_28015442dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||11/20|ENST00000612946.4:c.3693-1029_3693-1028dup|||||||rs138678||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28015441_28015442dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||13/22|NM_001145418.2:c.4074-1029_4074-1028dup|||||||rs138678||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28015441_28015442dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||13/21|NM_001393403.1:c.4074-1029_4074-1028dup|||||||rs138678||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28015441_28015442dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||12/21|NM_001393404.1:c.3720-1029_3720-1028dup|||||||rs138678||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28015441_28015442dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||12/20|NM_001393405.1:c.3720-1029_3720-1028dup|||||||rs138678||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28015441_28015442dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||13/22|XM_011530018.4:c.3996-1029_3996-1028dup|||||||rs138678||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28015441_28015442dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||||||||||rs138678|4893|-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28015441_28015442dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||||||||||rs138678|4893|-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28015441_28015442dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||13/22|XM_017028673.3:c.3984-1029_3984-1028dup|||||||rs138678||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28015441_28015442dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||13/21|XM_047441214.1:c.3996-1029_3996-1028dup|||||||rs138678||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28015441_28015442dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||13/22|XM_047441215.1:c.3768-1029_3768-1028dup|||||||rs138678||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28015441_28015442dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1142;gnomADv4_1_AC_joint_XX=621;gnomADv4_1_AC_joint_XY=521;gnomADv4_1_AF_grpmax_joint=0.0333405;gnomADv4_1_AF_joint=0.0104178;gnomADv4_1_AF_joint_XX=0.0106877;gnomADv4_1_AF_joint_XY=0.0101134;gnomADv4_1_AN_grpmax_joint=27924;gnomADv4_1_AN_joint=109620;gnomADv4_1_AN_joint_XX=58104;gnomADv4_1_AN_joint_XY=51516;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=15;gnomADv4_1_nhomalt_joint_XX=10;gnomADv4_1_nhomalt_joint_XY=5;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28015597 chr22_28015597_A_AT A AT 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.674;CADDIndel_Rawscore=-0.118371;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||13/22|ENST00000397906.7:c.4074-1206dup|||||||rs5844802||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28015606dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||11/20|ENST00000612946.4:c.3693-1206dup|||||||rs5844802||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28015606dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||13/22|NM_001145418.2:c.4074-1206dup|||||||rs5844802||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28015606dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||13/21|NM_001393403.1:c.4074-1206dup|||||||rs5844802||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28015606dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||12/21|NM_001393404.1:c.3720-1206dup|||||||rs5844802||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28015606dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||12/20|NM_001393405.1:c.3720-1206dup|||||||rs5844802||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28015606dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||13/22|XM_011530018.4:c.3996-1206dup|||||||rs5844802||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28015606dup|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||||||||||rs5844802|4715|-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28015606dup|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||||||||||rs5844802|4715|-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28015606dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||13/22|XM_017028673.3:c.3984-1206dup|||||||rs5844802||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28015606dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||13/21|XM_047441214.1:c.3996-1206dup|||||||rs5844802||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28015606dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||13/22|XM_047441215.1:c.3768-1206dup|||||||rs5844802||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28015606dup|||||||||||||;SpliceAI=AT|TTC28|0.00|0.00|0.00|0.00|-12|-16|26|28;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57404;gnomADv4_1_AC_joint_XX=29287;gnomADv4_1_AC_joint_XY=28117;gnomADv4_1_AF_grpmax_joint=0.50358;gnomADv4_1_AF_joint=0.383046;gnomADv4_1_AF_joint_XX=0.381391;gnomADv4_1_AF_joint_XY=0.384785;gnomADv4_1_AN_grpmax_joint=5028;gnomADv4_1_AN_joint=149862;gnomADv4_1_AN_joint_XX=76790;gnomADv4_1_AN_joint_XY=73072;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11521;gnomADv4_1_nhomalt_joint_XX=5867;gnomADv4_1_nhomalt_joint_XY=5654;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28015930 chr22_28015930_A_G A G 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=2.341;CADD_Rawscore=0.205905;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||13/22|ENST00000397906.7:c.4074-1538T>C|||||||rs470105||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28015930A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||11/20|ENST00000612946.4:c.3693-1538T>C|||||||rs470105||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28015930A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||13/22|NM_001145418.2:c.4074-1538T>C|||||||rs470105||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28015930A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||13/21|NM_001393403.1:c.4074-1538T>C|||||||rs470105||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28015930A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||12/21|NM_001393404.1:c.3720-1538T>C|||||||rs470105||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28015930A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||12/20|NM_001393405.1:c.3720-1538T>C|||||||rs470105||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28015930A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||13/22|XM_011530018.4:c.3996-1538T>C|||||||rs470105||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28015930A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||||||||||rs470105|4383|-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28015930A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||||||||||rs470105|4383|-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28015930A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||13/22|XM_017028673.3:c.3984-1538T>C|||||||rs470105||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28015930A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||13/21|XM_047441214.1:c.3996-1538T>C|||||||rs470105||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28015930A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||13/22|XM_047441215.1:c.3768-1538T>C|||||||rs470105||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28015930A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|29|7|-28|7;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=92680;gnomADv4_1_AC_joint_XX=47097;gnomADv4_1_AC_joint_XY=45583;gnomADv4_1_AF_grpmax_joint=0.739007;gnomADv4_1_AF_joint=0.613287;gnomADv4_1_AF_joint_XX=0.608583;gnomADv4_1_AF_joint_XY=0.618225;gnomADv4_1_AN_grpmax_joint=41070;gnomADv4_1_AN_joint=151120;gnomADv4_1_AN_joint_XX=77388;gnomADv4_1_AN_joint_XY=73732;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=29203;gnomADv4_1_nhomalt_joint_XX=14719;gnomADv4_1_nhomalt_joint_XY=14484;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28016380 chr22_28016380_G_A G A 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.166;CADD_Rawscore=-0.476151;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||13/22|ENST00000397906.7:c.4074-1988C>T|||||||rs5752687||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28016380G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||11/20|ENST00000612946.4:c.3693-1988C>T|||||||rs5752687||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28016380G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||13/22|NM_001145418.2:c.4074-1988C>T|||||||rs5752687||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28016380G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||13/21|NM_001393403.1:c.4074-1988C>T|||||||rs5752687||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28016380G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||12/21|NM_001393404.1:c.3720-1988C>T|||||||rs5752687||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28016380G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||12/20|NM_001393405.1:c.3720-1988C>T|||||||rs5752687||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28016380G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||13/22|XM_011530018.4:c.3996-1988C>T|||||||rs5752687||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28016380G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||||||||||rs5752687|3933|-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28016380G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||||||||||rs5752687|3933|-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28016380G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||13/22|XM_017028673.3:c.3984-1988C>T|||||||rs5752687||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28016380G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||13/21|XM_047441214.1:c.3996-1988C>T|||||||rs5752687||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28016380G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||13/22|XM_047441215.1:c.3768-1988C>T|||||||rs5752687||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28016380G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-46|15|36|-39;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6759;gnomADv4_1_AC_joint_XX=3262;gnomADv4_1_AC_joint_XY=3497;gnomADv4_1_AF_grpmax_joint=0.136288;gnomADv4_1_AF_joint=0.0443824;gnomADv4_1_AF_joint_XX=0.0419129;gnomADv4_1_AF_joint_XY=0.0469636;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152290;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=239;gnomADv4_1_nhomalt_joint_XX=104;gnomADv4_1_nhomalt_joint_XY=135;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28016920 chr22_28016920_T_G T G 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=1.056;CADD_Rawscore=-0.003704;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||13/22|ENST00000397906.7:c.4074-2528A>C|||||||rs742547||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28016920T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||11/20|ENST00000612946.4:c.3693-2528A>C|||||||rs742547||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28016920T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||13/22|NM_001145418.2:c.4074-2528A>C|||||||rs742547||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28016920T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||13/21|NM_001393403.1:c.4074-2528A>C|||||||rs742547||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28016920T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||12/21|NM_001393404.1:c.3720-2528A>C|||||||rs742547||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28016920T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||12/20|NM_001393405.1:c.3720-2528A>C|||||||rs742547||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28016920T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||13/22|XM_011530018.4:c.3996-2528A>C|||||||rs742547||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28016920T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||||||||||rs742547|3393|-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28016920T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||||||||||rs742547|3393|-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28016920T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||13/22|XM_017028673.3:c.3984-2528A>C|||||||rs742547||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28016920T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||13/21|XM_047441214.1:c.3996-2528A>C|||||||rs742547||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28016920T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||13/22|XM_047441215.1:c.3768-2528A>C|||||||rs742547||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28016920T>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-11|21|9|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38062;gnomADv4_1_AC_joint_XX=19280;gnomADv4_1_AC_joint_XY=18782;gnomADv4_1_AF_grpmax_joint=0.430927;gnomADv4_1_AF_joint=0.25026;gnomADv4_1_AF_joint_XX=0.247962;gnomADv4_1_AF_joint_XY=0.252664;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152090;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5189;gnomADv4_1_nhomalt_joint_XX=2592;gnomADv4_1_nhomalt_joint_XY=2597;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28018244 chr22_28018244_A_AGT A AGT 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=27;CADDIndel_PHREDscore=0.766;CADDIndel_Rawscore=-0.086026;CSQ=GT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||13/22|ENST00000397906.7:c.4074-3854_4074-3853dup|||||||rs138612299||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28018277_28018278dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||11/20|ENST00000612946.4:c.3693-3854_3693-3853dup|||||||rs138612299||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28018277_28018278dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||13/22|NM_001145418.2:c.4074-3854_4074-3853dup|||||||rs138612299||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28018277_28018278dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||13/21|NM_001393403.1:c.4074-3854_4074-3853dup|||||||rs138612299||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28018277_28018278dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||12/21|NM_001393404.1:c.3720-3854_3720-3853dup|||||||rs138612299||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28018277_28018278dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||12/20|NM_001393405.1:c.3720-3854_3720-3853dup|||||||rs138612299||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28018277_28018278dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||13/22|XM_011530018.4:c.3996-3854_3996-3853dup|||||||rs138612299||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28018277_28018278dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||||||||||rs138612299|2068|-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28018277_28018278dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||||||||||rs138612299|2068|-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28018277_28018278dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||13/22|XM_017028673.3:c.3984-3854_3984-3853dup|||||||rs138612299||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28018277_28018278dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||13/21|XM_047441214.1:c.3996-3854_3996-3853dup|||||||rs138612299||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28018277_28018278dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||13/22|XM_047441215.1:c.3768-3854_3768-3853dup|||||||rs138612299||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28018277_28018278dup|||||||||||||;TYPE=INDEL;VEP_Allele=GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21271;gnomADv4_1_AC_joint_XX=11574;gnomADv4_1_AC_joint_XY=9697;gnomADv4_1_AF_grpmax_joint=0.283505;gnomADv4_1_AF_joint=0.185426;gnomADv4_1_AF_joint_XX=0.188061;gnomADv4_1_AF_joint_XY=0.182377;gnomADv4_1_AN_grpmax_joint=194;gnomADv4_1_AN_joint=114714;gnomADv4_1_AN_joint_XX=61544;gnomADv4_1_AN_joint_XY=53170;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2013;gnomADv4_1_nhomalt_joint_XX=1137;gnomADv4_1_nhomalt_joint_XY=876;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28018306 chr22_28018306_C_CG;chr22_28018306_CG_C C CG 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=15;CADDIndel_PHREDscore=0.205;CADDIndel_Rawscore=-0.420307;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||13/22|ENST00000397906.7:c.4074-3915dup|||||||rs138682||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28018317dup|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||11/20|ENST00000612946.4:c.3693-3915dup|||||||rs138682||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28018317dup|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||13/22|NM_001145418.2:c.4074-3915dup|||||||rs138682||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28018317dup|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||13/21|NM_001393403.1:c.4074-3915dup|||||||rs138682||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28018317dup|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||12/21|NM_001393404.1:c.3720-3915dup|||||||rs138682||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28018317dup|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||12/20|NM_001393405.1:c.3720-3915dup|||||||rs138682||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28018317dup|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||13/22|XM_011530018.4:c.3996-3915dup|||||||rs138682||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28018317dup|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||||||||||rs138682|2006|-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28018317dup|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||||||||||rs138682|2006|-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28018317dup|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||13/22|XM_017028673.3:c.3984-3915dup|||||||rs138682||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28018317dup|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||13/21|XM_047441214.1:c.3996-3915dup|||||||rs138682||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28018317dup|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||13/22|XM_047441215.1:c.3768-3915dup|||||||rs138682||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28018317dup|||||||||||||;SpliceAI=CG|TTC28|0.00|0.00|0.00|0.00|36|25|20|25;TYPE=INDEL;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5392;gnomADv4_1_AC_joint_XX=3028;gnomADv4_1_AC_joint_XY=2364;gnomADv4_1_AF_grpmax_joint=0.139053;gnomADv4_1_AF_joint=0.109857;gnomADv4_1_AF_joint_XX=0.115502;gnomADv4_1_AF_joint_XY=0.103385;gnomADv4_1_AN_grpmax_joint=21366;gnomADv4_1_AN_joint=49082;gnomADv4_1_AN_joint_XX=26216;gnomADv4_1_AN_joint_XY=22866;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=484;gnomADv4_1_nhomalt_joint_XX=296;gnomADv4_1_nhomalt_joint_XY=188;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28018306 chr22_28018306_C_CG;chr22_28018306_CG_C CG C 19 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=19;CADDIndel_PHREDscore=0.074;CADDIndel_Rawscore=-0.691436;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||13/22|ENST00000397906.7:c.4074-3915del|||||||rs138682||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28018317del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||11/20|ENST00000612946.4:c.3693-3915del|||||||rs138682||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28018317del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||13/22|NM_001145418.2:c.4074-3915del|||||||rs138682||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28018317del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||13/21|NM_001393403.1:c.4074-3915del|||||||rs138682||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28018317del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||12/21|NM_001393404.1:c.3720-3915del|||||||rs138682||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28018317del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||12/20|NM_001393405.1:c.3720-3915del|||||||rs138682||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28018317del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||13/22|XM_011530018.4:c.3996-3915del|||||||rs138682||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28018317del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||||||||||rs138682|2006|-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28018317del|||||||||||||,-|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||||||||||rs138682|2006|-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28018317del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||13/22|XM_017028673.3:c.3984-3915del|||||||rs138682||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28018317del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||13/21|XM_047441214.1:c.3996-3915del|||||||rs138682||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28018317del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||13/22|XM_047441215.1:c.3768-3915del|||||||rs138682||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28018317del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|36|25|36|20;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21649;gnomADv4_1_AC_joint_XX=11366;gnomADv4_1_AC_joint_XY=10283;gnomADv4_1_AF_grpmax_joint=0.581668;gnomADv4_1_AF_joint=0.440056;gnomADv4_1_AF_joint_XX=0.43243;gnomADv4_1_AF_joint_XY=0.448804;gnomADv4_1_AN_grpmax_joint=16616;gnomADv4_1_AN_joint=49196;gnomADv4_1_AN_joint_XX=26284;gnomADv4_1_AN_joint_XY=22912;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3910;gnomADv4_1_nhomalt_joint_XX=2023;gnomADv4_1_nhomalt_joint_XY=1887;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28020559 chr22_28020559_C_G C G 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=4.35;CADD_Rawscore=0.396393;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||13/22|ENST00000397906.7:c.4074-6167G>C|||||||rs3747141||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28020559C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||11/20|ENST00000612946.4:c.3693-6167G>C|||||||rs3747141||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28020559C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||13/22|NM_001145418.2:c.4074-6167G>C|||||||rs3747141||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28020559C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||13/21|NM_001393403.1:c.4074-6167G>C|||||||rs3747141||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28020559C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||12/21|NM_001393404.1:c.3720-6167G>C|||||||rs3747141||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28020559C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||12/20|NM_001393405.1:c.3720-6167G>C|||||||rs3747141||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28020559C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||13/22|XM_011530018.4:c.3996-6167G>C|||||||rs3747141||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28020559C>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding|15/15||XM_011530019.3:c.*33G>C||4389|||||rs3747141||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28020559C>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding|15/15||XM_011530021.4:c.*156G>C||4446|||||rs3747141||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28020559C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||13/22|XM_017028673.3:c.3984-6167G>C|||||||rs3747141||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28020559C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||13/21|XM_047441214.1:c.3996-6167G>C|||||||rs3747141||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28020559C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||13/22|XM_047441215.1:c.3768-6167G>C|||||||rs3747141||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28020559C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4R3W|enhancer||||||||||rs3747141|||||||||||||||||||||chr22:g.28020559C>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|38|-1|12|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,ENSR22_C4R3W;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78328;gnomADv4_1_AC_joint_XX=39848;gnomADv4_1_AC_joint_XY=38480;gnomADv4_1_AF_grpmax_joint=0.641341;gnomADv4_1_AF_joint=0.515587;gnomADv4_1_AF_joint_XX=0.513016;gnomADv4_1_AF_joint_XY=0.518277;gnomADv4_1_AN_grpmax_joint=41460;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74246;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20974;gnomADv4_1_nhomalt_joint_XX=10578;gnomADv4_1_nhomalt_joint_XY=10396;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28020778 chr22_28020778_A_AAC A AAC 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADDIndel_PHREDscore=0.307;CADDIndel_Rawscore=-0.315968;CSQ=AC|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||13/22|ENST00000397906.7:c.4074-6388_4074-6387dup|||||||rs34174077||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28020801_28020802dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||11/20|ENST00000612946.4:c.3693-6388_3693-6387dup|||||||rs34174077||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28020801_28020802dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||13/22|NM_001145418.2:c.4074-6388_4074-6387dup|||||||rs34174077||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28020801_28020802dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||13/21|NM_001393403.1:c.4074-6388_4074-6387dup|||||||rs34174077||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28020801_28020802dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||12/21|NM_001393404.1:c.3720-6388_3720-6387dup|||||||rs34174077||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28020801_28020802dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||12/20|NM_001393405.1:c.3720-6388_3720-6387dup|||||||rs34174077||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28020801_28020802dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||13/22|XM_011530018.4:c.3996-6388_3996-6387dup|||||||rs34174077||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28020801_28020802dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||14/14|XM_011530019.3:c.4170-119_4170-118dup|||||||rs34174077||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28020801_28020802dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||14/14|XM_011530021.4:c.4170-62_4170-61dup|||||||rs34174077||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28020801_28020802dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||13/22|XM_017028673.3:c.3984-6388_3984-6387dup|||||||rs34174077||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28020801_28020802dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||13/21|XM_047441214.1:c.3996-6388_3996-6387dup|||||||rs34174077||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28020801_28020802dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||13/22|XM_047441215.1:c.3768-6388_3768-6387dup|||||||rs34174077||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28020801_28020802dup|||||||||||||,AC|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4R3W|enhancer||||||||||rs34174077|||||||||||||||||||||chr22:g.28020801_28020802dup|||||||||||||;TYPE=INDEL;VEP_Allele=AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,ENSR22_C4R3W;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28000;gnomADv4_1_AC_joint_XX=14282;gnomADv4_1_AC_joint_XY=13718;gnomADv4_1_AF_grpmax_joint=0.33344;gnomADv4_1_AF_joint=0.188046;gnomADv4_1_AF_joint_XX=0.187143;gnomADv4_1_AF_joint_XY=0.188995;gnomADv4_1_AN_grpmax_joint=40634;gnomADv4_1_AN_joint=148900;gnomADv4_1_AN_joint_XX=76316;gnomADv4_1_AN_joint_XY=72584;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3329;gnomADv4_1_nhomalt_joint_XX=1667;gnomADv4_1_nhomalt_joint_XY=1662;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28025162 chr22_28025162_G_GTT G GTT 34 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=6.429;CADDIndel_Rawscore=0.597246;CSQ=TT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||13/22|ENST00000397906.7:c.4073+5062_4073+5063dup|||||||rs76121213||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28025164_28025165dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||||||||||rs76121213|3652|-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl|||||||chr22:g.28025164_28025165dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||11/20|ENST00000612946.4:c.3692+5062_3692+5063dup|||||||rs76121213||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28025164_28025165dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||13/22|NM_001145418.2:c.4073+5062_4073+5063dup|||||||rs76121213||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28025164_28025165dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||13/21|NM_001393403.1:c.4073+5062_4073+5063dup|||||||rs76121213||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28025164_28025165dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||12/21|NM_001393404.1:c.3719+5062_3719+5063dup|||||||rs76121213||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28025164_28025165dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||12/20|NM_001393405.1:c.3719+5062_3719+5063dup|||||||rs76121213||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28025164_28025165dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||13/22|XM_011530018.4:c.3995+5062_3995+5063dup|||||||rs76121213||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28025164_28025165dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||13/14|XM_011530019.3:c.4074-4075_4074-4074dup|||||||rs76121213||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28025164_28025165dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||||||||||rs76121213|3661|-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28025164_28025165dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||13/14|XM_011530021.4:c.4074-4075_4074-4074dup|||||||rs76121213||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28025164_28025165dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||13/22|XM_017028673.3:c.3983+5062_3983+5063dup|||||||rs76121213||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28025164_28025165dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||13/21|XM_047441214.1:c.3995+5062_3995+5063dup|||||||rs76121213||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28025164_28025165dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||13/22|XM_047441215.1:c.3767+5062_3767+5063dup|||||||rs76121213||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28025164_28025165dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21979;gnomADv4_1_AC_joint_XX=10982;gnomADv4_1_AC_joint_XY=10997;gnomADv4_1_AF_grpmax_joint=0.388169;gnomADv4_1_AF_joint=0.144496;gnomADv4_1_AF_joint_XX=0.141248;gnomADv4_1_AF_joint_XY=0.147893;gnomADv4_1_AN_grpmax_joint=4784;gnomADv4_1_AN_joint=152108;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1980;gnomADv4_1_nhomalt_joint_XX=963;gnomADv4_1_nhomalt_joint_XY=1017;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28025312 chr22_28025312_A_C A C 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.686;CADD_Rawscore=0.118893;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||13/22|ENST00000397906.7:c.4073+4914T>G|||||||rs1548235||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28025312A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||||||||||rs1548235|3503|-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||A|A||||chr22:g.28025312A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||11/20|ENST00000612946.4:c.3692+4914T>G|||||||rs1548235||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28025312A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||13/22|NM_001145418.2:c.4073+4914T>G|||||||rs1548235||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28025312A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||13/21|NM_001393403.1:c.4073+4914T>G|||||||rs1548235||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28025312A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||12/21|NM_001393404.1:c.3719+4914T>G|||||||rs1548235||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28025312A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||12/20|NM_001393405.1:c.3719+4914T>G|||||||rs1548235||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28025312A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||13/22|XM_011530018.4:c.3995+4914T>G|||||||rs1548235||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28025312A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||13/14|XM_011530019.3:c.4074-4223T>G|||||||rs1548235||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28025312A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||||||||||rs1548235|3512|-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28025312A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||13/14|XM_011530021.4:c.4074-4223T>G|||||||rs1548235||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28025312A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||13/22|XM_017028673.3:c.3983+4914T>G|||||||rs1548235||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28025312A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||13/21|XM_047441214.1:c.3995+4914T>G|||||||rs1548235||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28025312A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||13/22|XM_047441215.1:c.3767+4914T>G|||||||rs1548235||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28025312A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-32|19|-30|2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=93480;gnomADv4_1_AC_joint_XX=47458;gnomADv4_1_AC_joint_XY=46022;gnomADv4_1_AF_grpmax_joint=0.746021;gnomADv4_1_AF_joint=0.615186;gnomADv4_1_AF_joint_XX=0.610691;gnomADv4_1_AF_joint_XY=0.619892;gnomADv4_1_AN_grpmax_joint=41468;gnomADv4_1_AN_joint=151954;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=29573;gnomADv4_1_nhomalt_joint_XX=14907;gnomADv4_1_nhomalt_joint_XY=14666;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28027390 chr22_28027390_C_A C A 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.212;CADD_Rawscore=0.032254;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||13/22|ENST00000397906.7:c.4073+2836G>T|||||||rs4140571||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28027390C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||||||||||rs4140571|1425|-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||C|C||||chr22:g.28027390C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||11/20|ENST00000612946.4:c.3692+2836G>T|||||||rs4140571||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28027390C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||13/22|NM_001145418.2:c.4073+2836G>T|||||||rs4140571||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28027390C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||13/21|NM_001393403.1:c.4073+2836G>T|||||||rs4140571||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28027390C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||12/21|NM_001393404.1:c.3719+2836G>T|||||||rs4140571||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28027390C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||12/20|NM_001393405.1:c.3719+2836G>T|||||||rs4140571||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28027390C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||13/22|XM_011530018.4:c.3995+2836G>T|||||||rs4140571||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28027390C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||13/14|XM_011530019.3:c.4073+2836G>T|||||||rs4140571||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28027390C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||||||||||rs4140571|1434|-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28027390C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||13/14|XM_011530021.4:c.4073+2836G>T|||||||rs4140571||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28027390C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||13/22|XM_017028673.3:c.3983+2836G>T|||||||rs4140571||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28027390C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||13/21|XM_047441214.1:c.3995+2836G>T|||||||rs4140571||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28027390C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||13/22|XM_047441215.1:c.3767+2836G>T|||||||rs4140571||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28027390C>A|||||||||||||;SpliceAI=A|TTC28|0.02|0.00|0.00|0.00|-34|37|6|-34;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90329;gnomADv4_1_AC_joint_XX=45887;gnomADv4_1_AC_joint_XY=44442;gnomADv4_1_AF_grpmax_joint=0.781215;gnomADv4_1_AF_joint=0.593699;gnomADv4_1_AF_joint_XX=0.590004;gnomADv4_1_AF_joint_XY=0.597564;gnomADv4_1_AN_grpmax_joint=41534;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=28104;gnomADv4_1_nhomalt_joint_XX=14200;gnomADv4_1_nhomalt_joint_XY=13904;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28030034 chr22_28030034_G_C G C 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.944;CADD_Rawscore=0.156442;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||13/22|ENST00000397906.7:c.4073+192C>G|||||||rs2073028||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28030034G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||2/2|ENST00000442232.1:c.197+192C>G|||||||rs2073028||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||G|G||||chr22:g.28030034G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||11/20|ENST00000612946.4:c.3692+192C>G|||||||rs2073028||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28030034G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||13/22|NM_001145418.2:c.4073+192C>G|||||||rs2073028||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28030034G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||13/21|NM_001393403.1:c.4073+192C>G|||||||rs2073028||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28030034G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||12/21|NM_001393404.1:c.3719+192C>G|||||||rs2073028||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28030034G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||12/20|NM_001393405.1:c.3719+192C>G|||||||rs2073028||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28030034G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||13/22|XM_011530018.4:c.3995+192C>G|||||||rs2073028||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28030034G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||13/14|XM_011530019.3:c.4073+192C>G|||||||rs2073028||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28030034G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||13/13|XM_011530020.2:c.4073+192C>G|||||||rs2073028||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28030034G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||13/14|XM_011530021.4:c.4073+192C>G|||||||rs2073028||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28030034G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||13/22|XM_017028673.3:c.3983+192C>G|||||||rs2073028||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28030034G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||13/21|XM_047441214.1:c.3995+192C>G|||||||rs2073028||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28030034G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||13/22|XM_047441215.1:c.3767+192C>G|||||||rs2073028||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28030034G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|45|2|-27|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31506;gnomADv4_1_AC_joint_XX=16335;gnomADv4_1_AC_joint_XY=15171;gnomADv4_1_AF_grpmax_joint=0.351368;gnomADv4_1_AF_joint=0.206931;gnomADv4_1_AF_joint_XX=0.209924;gnomADv4_1_AF_joint_XY=0.203802;gnomADv4_1_AN_grpmax_joint=41532;gnomADv4_1_AN_joint=152254;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3839;gnomADv4_1_nhomalt_joint_XX=1990;gnomADv4_1_nhomalt_joint_XY=1849;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28030140 chr22_28030140_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.016;CADD_Rawscore=-1.1158;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||13/22|ENST00000397906.7:c.4073+86A>G|||||||rs2073029||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28030140T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||2/2|ENST00000442232.1:c.197+86A>G|||||||rs2073029||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||T|T||||chr22:g.28030140T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||11/20|ENST00000612946.4:c.3692+86A>G|||||||rs2073029||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28030140T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||13/22|NM_001145418.2:c.4073+86A>G|||||||rs2073029||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28030140T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||13/21|NM_001393403.1:c.4073+86A>G|||||||rs2073029||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28030140T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||12/21|NM_001393404.1:c.3719+86A>G|||||||rs2073029||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28030140T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||12/20|NM_001393405.1:c.3719+86A>G|||||||rs2073029||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28030140T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||13/22|XM_011530018.4:c.3995+86A>G|||||||rs2073029||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28030140T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||13/14|XM_011530019.3:c.4073+86A>G|||||||rs2073029||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28030140T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||13/13|XM_011530020.2:c.4073+86A>G|||||||rs2073029||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28030140T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||13/14|XM_011530021.4:c.4073+86A>G|||||||rs2073029||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28030140T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||13/22|XM_017028673.3:c.3983+86A>G|||||||rs2073029||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28030140T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||13/21|XM_047441214.1:c.3995+86A>G|||||||rs2073029||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28030140T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||13/22|XM_047441215.1:c.3767+86A>G|||||||rs2073029||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28030140T>C|||||||||||||;SpliceAI=C|TTC28|0.01|0.00|0.00|0.00|-10|-2|-4|-38;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=247729;gnomADv4_1_AC_joint_XX=126359;gnomADv4_1_AC_joint_XY=121370;gnomADv4_1_AF_grpmax_joint=0.363499;gnomADv4_1_AF_joint=0.165654;gnomADv4_1_AF_joint_XX=0.165377;gnomADv4_1_AF_joint_XY=0.165944;gnomADv4_1_AN_grpmax_joint=40432;gnomADv4_1_AN_joint=1495460;gnomADv4_1_AN_joint_XX=764068;gnomADv4_1_AN_joint_XY=731392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=22787;gnomADv4_1_nhomalt_joint_XX=11679;gnomADv4_1_nhomalt_joint_XY=11108;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28031348 chr22_28031348_A_C A C 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=3.444;CADD_Rawscore=0.315659;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3933-982T>G|||||||rs5762456||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28031348A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.57-982T>G|||||||rs5762456||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||A|A||||chr22:g.28031348A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3552-982T>G|||||||rs5762456||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28031348A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3933-982T>G|||||||rs5762456||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28031348A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3933-982T>G|||||||rs5762456||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28031348A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3579-982T>G|||||||rs5762456||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28031348A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3579-982T>G|||||||rs5762456||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28031348A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3855-982T>G|||||||rs5762456||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28031348A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3933-982T>G|||||||rs5762456||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28031348A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3933-982T>G|||||||rs5762456||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28031348A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3933-982T>G|||||||rs5762456||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28031348A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3843-982T>G|||||||rs5762456||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28031348A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3855-982T>G|||||||rs5762456||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28031348A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3627-982T>G|||||||rs5762456||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28031348A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|24|-41|-45|2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12138;gnomADv4_1_AC_joint_XX=6058;gnomADv4_1_AC_joint_XY=6080;gnomADv4_1_AF_grpmax_joint=0.23622;gnomADv4_1_AF_joint=0.0797105;gnomADv4_1_AF_joint_XX=0.0778503;gnomADv4_1_AF_joint_XY=0.0816546;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152276;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=662;gnomADv4_1_nhomalt_joint_XX=314;gnomADv4_1_nhomalt_joint_XY=348;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28032169 chr22_28032169_TATATATATATATATATATAAAATATATATATATAAA_T;chr22_28032173_TATATATATATATATAAA_T TATATATATATATATATATAAAATATATATATATAAA T 25 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=25;CADDIndel_PHREDscore=0.378;CADDIndel_Rawscore=-0.263355;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3933-1839_3933-1804del|||||||rs1242199445||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||ATATATATATATATATATAAAATATATATATATAAA|ATATATATATATATATATAAAATATATATATATAAA||||chr22:g.28032183_28032218del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.57-1839_57-1804del|||||||rs1242199445||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||ATATATATATATATATATAAAATATATATATATAAA|ATATATATATATATATATAAAATATATATATATAAA||||chr22:g.28032183_28032218del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3552-1839_3552-1804del|||||||rs1242199445||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||ATATATATATATATATATAAAATATATATATATAAA|ATATATATATATATATATAAAATATATATATATAAA||||chr22:g.28032183_28032218del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3933-1839_3933-1804del|||||||rs1242199445||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||ATATATATATATATATATAAAATATATATATATAAA|ATATATATATATATATATAAAATATATATATATAAA||||chr22:g.28032183_28032218del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3933-1839_3933-1804del|||||||rs1242199445||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||ATATATATATATATATATAAAATATATATATATAAA|ATATATATATATATATATAAAATATATATATATAAA||||chr22:g.28032183_28032218del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3579-1839_3579-1804del|||||||rs1242199445||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||ATATATATATATATATATAAAATATATATATATAAA|ATATATATATATATATATAAAATATATATATATAAA||||chr22:g.28032183_28032218del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3579-1839_3579-1804del|||||||rs1242199445||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||ATATATATATATATATATAAAATATATATATATAAA|ATATATATATATATATATAAAATATATATATATAAA||||chr22:g.28032183_28032218del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3855-1839_3855-1804del|||||||rs1242199445||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||ATATATATATATATATATAAAATATATATATATAAA|ATATATATATATATATATAAAATATATATATATAAA||||chr22:g.28032183_28032218del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3933-1839_3933-1804del|||||||rs1242199445||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||ATATATATATATATATATAAAATATATATATATAAA|ATATATATATATATATATAAAATATATATATATAAA||||chr22:g.28032183_28032218del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3933-1839_3933-1804del|||||||rs1242199445||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||ATATATATATATATATATAAAATATATATATATAAA|ATATATATATATATATATAAAATATATATATATAAA||||chr22:g.28032183_28032218del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3933-1839_3933-1804del|||||||rs1242199445||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||ATATATATATATATATATAAAATATATATATATAAA|ATATATATATATATATATAAAATATATATATATAAA||||chr22:g.28032183_28032218del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3843-1839_3843-1804del|||||||rs1242199445||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||ATATATATATATATATATAAAATATATATATATAAA|ATATATATATATATATATAAAATATATATATATAAA||||chr22:g.28032183_28032218del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3855-1839_3855-1804del|||||||rs1242199445||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||ATATATATATATATATATAAAATATATATATATAAA|ATATATATATATATATATAAAATATATATATATAAA||||chr22:g.28032183_28032218del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3627-1839_3627-1804del|||||||rs1242199445||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||ATATATATATATATATATAAAATATATATATATAAA|ATATATATATATATATATAAAATATATATATATAAA||||chr22:g.28032183_28032218del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3984;gnomADv4_1_AC_joint_XX=2267;gnomADv4_1_AC_joint_XY=1717;gnomADv4_1_AF_grpmax_joint=0.0882353;gnomADv4_1_AF_joint=0.0412004;gnomADv4_1_AF_joint_XX=0.0447158;gnomADv4_1_AF_joint_XY=0.0373261;gnomADv4_1_AN_grpmax_joint=204;gnomADv4_1_AN_joint=96698;gnomADv4_1_AN_joint_XX=50698;gnomADv4_1_AN_joint_XY=46000;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=125;gnomADv4_1_nhomalt_joint_XX=68;gnomADv4_1_nhomalt_joint_XY=57;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28032173 chr22_28032169_TATATATATATATATATATAAAATATATATATATAAA_T;chr22_28032173_TATATATATATATATAAA_T TATATATATATATATAAA T 25 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=17;CADDIndel_PHREDscore=0.406;CADDIndel_Rawscore=-0.245445;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3933-1824_3933-1808del|||||||rs556991611||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||ATATATATATATATAAA|ATATATATATATATAAA||||chr22:g.28032187_28032203del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.57-1824_57-1808del|||||||rs556991611||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||ATATATATATATATAAA|ATATATATATATATAAA||||chr22:g.28032187_28032203del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3552-1824_3552-1808del|||||||rs556991611||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||ATATATATATATATAAA|ATATATATATATATAAA||||chr22:g.28032187_28032203del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3933-1824_3933-1808del|||||||rs556991611||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||ATATATATATATATAAA|ATATATATATATATAAA||||chr22:g.28032187_28032203del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3933-1824_3933-1808del|||||||rs556991611||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||ATATATATATATATAAA|ATATATATATATATAAA||||chr22:g.28032187_28032203del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3579-1824_3579-1808del|||||||rs556991611||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||ATATATATATATATAAA|ATATATATATATATAAA||||chr22:g.28032187_28032203del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3579-1824_3579-1808del|||||||rs556991611||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||ATATATATATATATAAA|ATATATATATATATAAA||||chr22:g.28032187_28032203del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3855-1824_3855-1808del|||||||rs556991611||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||ATATATATATATATAAA|ATATATATATATATAAA||||chr22:g.28032187_28032203del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3933-1824_3933-1808del|||||||rs556991611||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||ATATATATATATATAAA|ATATATATATATATAAA||||chr22:g.28032187_28032203del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3933-1824_3933-1808del|||||||rs556991611||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||ATATATATATATATAAA|ATATATATATATATAAA||||chr22:g.28032187_28032203del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3933-1824_3933-1808del|||||||rs556991611||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||ATATATATATATATAAA|ATATATATATATATAAA||||chr22:g.28032187_28032203del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3843-1824_3843-1808del|||||||rs556991611||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||ATATATATATATATAAA|ATATATATATATATAAA||||chr22:g.28032187_28032203del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3855-1824_3855-1808del|||||||rs556991611||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||ATATATATATATATAAA|ATATATATATATATAAA||||chr22:g.28032187_28032203del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3627-1824_3627-1808del|||||||rs556991611||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||ATATATATATATATAAA|ATATATATATATATAAA||||chr22:g.28032187_28032203del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1935;gnomADv4_1_AC_joint_XX=1038;gnomADv4_1_AC_joint_XY=897;gnomADv4_1_AF_grpmax_joint=0.0635355;gnomADv4_1_AF_joint=0.0187029;gnomADv4_1_AF_joint_XX=0.0193296;gnomADv4_1_AF_joint_XY=0.0180265;gnomADv4_1_AN_grpmax_joint=25230;gnomADv4_1_AN_joint=103460;gnomADv4_1_AN_joint_XX=53700;gnomADv4_1_AN_joint_XY=49760;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=51;gnomADv4_1_nhomalt_joint_XX=36;gnomADv4_1_nhomalt_joint_XY=15;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28032267 chr22_28032267_AGTGT_A AGTGT A 16 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=16;CADDIndel_PHREDscore=0.268;CADDIndel_Rawscore=-0.350596;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3933-1905_3933-1902del|||||||rs370005298||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||GTGT|GTGT||||chr22:g.28032292_28032295del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.57-1905_57-1902del|||||||rs370005298||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||GTGT|GTGT||||chr22:g.28032292_28032295del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3552-1905_3552-1902del|||||||rs370005298||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||GTGT|GTGT||||chr22:g.28032292_28032295del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3933-1905_3933-1902del|||||||rs370005298||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||GTGT|GTGT||||chr22:g.28032292_28032295del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3933-1905_3933-1902del|||||||rs370005298||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||GTGT|GTGT||||chr22:g.28032292_28032295del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3579-1905_3579-1902del|||||||rs370005298||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||GTGT|GTGT||||chr22:g.28032292_28032295del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3579-1905_3579-1902del|||||||rs370005298||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||GTGT|GTGT||||chr22:g.28032292_28032295del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3855-1905_3855-1902del|||||||rs370005298||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||GTGT|GTGT||||chr22:g.28032292_28032295del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3933-1905_3933-1902del|||||||rs370005298||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||GTGT|GTGT||||chr22:g.28032292_28032295del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3933-1905_3933-1902del|||||||rs370005298||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||GTGT|GTGT||||chr22:g.28032292_28032295del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3933-1905_3933-1902del|||||||rs370005298||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||GTGT|GTGT||||chr22:g.28032292_28032295del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3843-1905_3843-1902del|||||||rs370005298||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||GTGT|GTGT||||chr22:g.28032292_28032295del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3855-1905_3855-1902del|||||||rs370005298||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||GTGT|GTGT||||chr22:g.28032292_28032295del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3627-1905_3627-1902del|||||||rs370005298||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||GTGT|GTGT||||chr22:g.28032292_28032295del|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|8|2|-23|-19;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5058;gnomADv4_1_AC_joint_XX=2822;gnomADv4_1_AC_joint_XY=2236;gnomADv4_1_AF_grpmax_joint=0.111111;gnomADv4_1_AF_joint=0.0647747;gnomADv4_1_AF_joint_XX=0.0678986;gnomADv4_1_AF_joint_XY=0.06122;gnomADv4_1_AN_grpmax_joint=180;gnomADv4_1_AN_joint=78086;gnomADv4_1_AN_joint_XX=41562;gnomADv4_1_AN_joint_XY=36524;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=309;gnomADv4_1_nhomalt_joint_XX=173;gnomADv4_1_nhomalt_joint_XY=136;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28035723 chr22_28035723_A_C A C 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.909;CADD_Rawscore=0.151626;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3933-5357T>G|||||||rs530505959||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28035723A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.57-5357T>G|||||||rs530505959||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||A|A||||chr22:g.28035723A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3552-5357T>G|||||||rs530505959||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28035723A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3933-5357T>G|||||||rs530505959||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28035723A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3933-5357T>G|||||||rs530505959||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28035723A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3579-5357T>G|||||||rs530505959||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28035723A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3579-5357T>G|||||||rs530505959||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28035723A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3855-5357T>G|||||||rs530505959||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28035723A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3933-5357T>G|||||||rs530505959||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28035723A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3933-5357T>G|||||||rs530505959||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28035723A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3933-5357T>G|||||||rs530505959||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28035723A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3843-5357T>G|||||||rs530505959||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28035723A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3855-5357T>G|||||||rs530505959||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28035723A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3627-5357T>G|||||||rs530505959||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28035723A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-33|1|48|24;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=167;gnomADv4_1_AC_joint_XX=73;gnomADv4_1_AC_joint_XY=94;gnomADv4_1_AF_grpmax_joint=0.00248269;gnomADv4_1_AF_joint=0.0010962;gnomADv4_1_AF_joint_XX=0.000937869;gnomADv4_1_AF_joint_XY=0.00126161;gnomADv4_1_AN_grpmax_joint=15306;gnomADv4_1_AN_joint=152344;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74508;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28038129 chr22_28038129_A_G A G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.981;CADD_Rawscore=0.161401;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3933-7763T>C|||||||rs150427886||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28038129A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.57-7763T>C|||||||rs150427886||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||A|A||||chr22:g.28038129A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3552-7763T>C|||||||rs150427886||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28038129A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3933-7763T>C|||||||rs150427886||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28038129A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3933-7763T>C|||||||rs150427886||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28038129A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3579-7763T>C|||||||rs150427886||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28038129A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3579-7763T>C|||||||rs150427886||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28038129A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3855-7763T>C|||||||rs150427886||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28038129A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3933-7763T>C|||||||rs150427886||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28038129A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3933-7763T>C|||||||rs150427886||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28038129A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3933-7763T>C|||||||rs150427886||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28038129A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3843-7763T>C|||||||rs150427886||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28038129A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3855-7763T>C|||||||rs150427886||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28038129A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3627-7763T>C|||||||rs150427886||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28038129A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|38|1|-39|6;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13084;gnomADv4_1_AC_joint_XX=6594;gnomADv4_1_AC_joint_XY=6490;gnomADv4_1_AF_grpmax_joint=0.236416;gnomADv4_1_AF_joint=0.0859162;gnomADv4_1_AF_joint_XX=0.0847166;gnomADv4_1_AF_joint_XY=0.0871703;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152288;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=747;gnomADv4_1_nhomalt_joint_XX=370;gnomADv4_1_nhomalt_joint_XY=377;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28039765 chr22_28039765_CA_C CA C 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.41;CADDIndel_Rawscore=-0.242785;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3933-9400del|||||||rs74206930||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28039771del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.57-9400del|||||||rs74206930||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||A|A||||chr22:g.28039771del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3552-9400del|||||||rs74206930||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28039771del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3933-9400del|||||||rs74206930||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28039771del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3933-9400del|||||||rs74206930||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28039771del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3579-9400del|||||||rs74206930||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28039771del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3579-9400del|||||||rs74206930||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28039771del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3855-9400del|||||||rs74206930||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28039771del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3933-9400del|||||||rs74206930||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28039771del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3933-9400del|||||||rs74206930||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28039771del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3933-9400del|||||||rs74206930||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28039771del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3843-9400del|||||||rs74206930||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28039771del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3855-9400del|||||||rs74206930||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28039771del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3627-9400del|||||||rs74206930||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28039771del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-36|-19|36|-17;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7653;gnomADv4_1_AC_joint_XX=3569;gnomADv4_1_AC_joint_XY=4084;gnomADv4_1_AF_grpmax_joint=0.197385;gnomADv4_1_AF_joint=0.0503387;gnomADv4_1_AF_joint_XX=0.0459319;gnomADv4_1_AF_joint_XY=0.0549456;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152030;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=339;gnomADv4_1_nhomalt_joint_XX=137;gnomADv4_1_nhomalt_joint_XY=202;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28042498 chr22_28042498_A_G A G 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.181;CADD_Rawscore=-0.452871;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3933-12132T>C|||||||rs6005704||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28042498A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.57-12132T>C|||||||rs6005704||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||A|A||||chr22:g.28042498A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3552-12132T>C|||||||rs6005704||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28042498A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3933-12132T>C|||||||rs6005704||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28042498A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3933-12132T>C|||||||rs6005704||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28042498A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3579-12132T>C|||||||rs6005704||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28042498A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3579-12132T>C|||||||rs6005704||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28042498A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3855-12132T>C|||||||rs6005704||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28042498A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3933-12132T>C|||||||rs6005704||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28042498A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3933-12132T>C|||||||rs6005704||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28042498A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3933-12132T>C|||||||rs6005704||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28042498A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3843-12132T>C|||||||rs6005704||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28042498A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3855-12132T>C|||||||rs6005704||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28042498A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3627-12132T>C|||||||rs6005704||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28042498A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|4|-30|4|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20694;gnomADv4_1_AC_joint_XX=10618;gnomADv4_1_AC_joint_XY=10076;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.136166;gnomADv4_1_AF_joint_XX=0.13664;gnomADv4_1_AF_joint_XY=0.135671;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151976;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1506;gnomADv4_1_nhomalt_joint_XX=773;gnomADv4_1_nhomalt_joint_XY=733;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28043238 chr22_28043238_A_G A G 35 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.311;CADD_Rawscore=0.052784;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3933-12872T>C|||||||rs12171034||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28043238A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.57-12872T>C|||||||rs12171034||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||A|A||||chr22:g.28043238A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3552-12872T>C|||||||rs12171034||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28043238A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3933-12872T>C|||||||rs12171034||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28043238A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3933-12872T>C|||||||rs12171034||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28043238A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3579-12872T>C|||||||rs12171034||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28043238A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3579-12872T>C|||||||rs12171034||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28043238A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3855-12872T>C|||||||rs12171034||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28043238A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3933-12872T>C|||||||rs12171034||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28043238A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3933-12872T>C|||||||rs12171034||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28043238A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3933-12872T>C|||||||rs12171034||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28043238A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3843-12872T>C|||||||rs12171034||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28043238A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3855-12872T>C|||||||rs12171034||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28043238A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3627-12872T>C|||||||rs12171034||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28043238A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-23|1|45|1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=63391;gnomADv4_1_AC_joint_XX=33817;gnomADv4_1_AC_joint_XY=29574;gnomADv4_1_AF_grpmax_joint=0.726811;gnomADv4_1_AF_joint=0.612;gnomADv4_1_AF_joint_XX=0.605844;gnomADv4_1_AF_joint_XY=0.619195;gnomADv4_1_AN_grpmax_joint=2954;gnomADv4_1_AN_joint=103580;gnomADv4_1_AN_joint_XX=55818;gnomADv4_1_AN_joint_XY=47762;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=18668;gnomADv4_1_nhomalt_joint_XX=9873;gnomADv4_1_nhomalt_joint_XY=8795;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28048756 chr22_28048756_G_A G A 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.049;CADD_Rawscore=-0.005482;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3933-18390C>T|||||||rs5762461||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28048756G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.57-18390C>T|||||||rs5762461||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||G|G||||chr22:g.28048756G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3552-18390C>T|||||||rs5762461||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28048756G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3933-18390C>T|||||||rs5762461||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28048756G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3933-18390C>T|||||||rs5762461||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28048756G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3579-18390C>T|||||||rs5762461||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28048756G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3579-18390C>T|||||||rs5762461||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28048756G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3855-18390C>T|||||||rs5762461||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28048756G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3933-18390C>T|||||||rs5762461||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28048756G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3933-18390C>T|||||||rs5762461||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28048756G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3933-18390C>T|||||||rs5762461||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28048756G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3843-18390C>T|||||||rs5762461||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28048756G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3855-18390C>T|||||||rs5762461||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28048756G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3627-18390C>T|||||||rs5762461||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28048756G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|31|30|31|-22;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61151;gnomADv4_1_AC_joint_XX=31166;gnomADv4_1_AC_joint_XY=29985;gnomADv4_1_AF_grpmax_joint=0.568685;gnomADv4_1_AF_joint=0.403243;gnomADv4_1_AF_joint_XX=0.401779;gnomADv4_1_AF_joint_XY=0.404776;gnomADv4_1_AN_grpmax_joint=4790;gnomADv4_1_AN_joint=151648;gnomADv4_1_AN_joint_XX=77570;gnomADv4_1_AN_joint_XY=74078;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=13140;gnomADv4_1_nhomalt_joint_XX=6597;gnomADv4_1_nhomalt_joint_XY=6543;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28051454 chr22_28051454_G_A G A 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.286;CADD_Rawscore=0.301262;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3933-21088C>T|||||||rs56695231||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28051454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.57-21088C>T|||||||rs56695231||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||G|G||||chr22:g.28051454G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RN7SL757P|ENSG00000239249|Transcript|ENST00000466709|misc_RNA||||||||||rs56695231|4699|-1||HGNC|HGNC:46773|||||||||Ensembl||G|G||||chr22:g.28051454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3552-21088C>T|||||||rs56695231||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28051454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3933-21088C>T|||||||rs56695231||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28051454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3933-21088C>T|||||||rs56695231||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28051454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3579-21088C>T|||||||rs56695231||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28051454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3579-21088C>T|||||||rs56695231||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28051454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3855-21088C>T|||||||rs56695231||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28051454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3933-21088C>T|||||||rs56695231||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28051454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3933-21088C>T|||||||rs56695231||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28051454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3933-21088C>T|||||||rs56695231||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28051454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3843-21088C>T|||||||rs56695231||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28051454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3855-21088C>T|||||||rs56695231||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28051454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3627-21088C>T|||||||rs56695231||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28051454G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-4|48|-4|-29;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000466709,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000239249,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,RN7SL757P,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6281;gnomADv4_1_AC_joint_XX=3027;gnomADv4_1_AC_joint_XY=3254;gnomADv4_1_AF_grpmax_joint=0.135328;gnomADv4_1_AF_joint=0.0412637;gnomADv4_1_AF_joint_XX=0.0389085;gnomADv4_1_AF_joint_XY=0.043726;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152216;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=220;gnomADv4_1_nhomalt_joint_XX=92;gnomADv4_1_nhomalt_joint_XY=128;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28056610 chr22_28056610_A_ATTTG A ATTTG 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=4.365;CADDIndel_Rawscore=0.397768;CSQ=TTTG|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3933-26245_3933-26244insCAAA|||||||rs10672010||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28056613_28056614insGTTT|||||||||||||,TTTG|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.57-26245_57-26244insCAAA|||||||rs10672010||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl|||||||chr22:g.28056613_28056614insGTTT|||||||||||||,TTTG|upstream_gene_variant|MODIFIER|RN7SL757P|ENSG00000239249|Transcript|ENST00000466709|misc_RNA||||||||||rs10672010|157|-1||HGNC|HGNC:46773|||||||||Ensembl|||||||chr22:g.28056613_28056614insGTTT|||||||||||||,TTTG|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3552-26245_3552-26244insCAAA|||||||rs10672010||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28056613_28056614insGTTT|||||||||||||,TTTG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3933-26245_3933-26244insCAAA|||||||rs10672010||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28056613_28056614insGTTT|||||||||||||,TTTG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3933-26245_3933-26244insCAAA|||||||rs10672010||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28056613_28056614insGTTT|||||||||||||,TTTG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3579-26245_3579-26244insCAAA|||||||rs10672010||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28056613_28056614insGTTT|||||||||||||,TTTG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3579-26245_3579-26244insCAAA|||||||rs10672010||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28056613_28056614insGTTT|||||||||||||,TTTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3855-26245_3855-26244insCAAA|||||||rs10672010||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28056613_28056614insGTTT|||||||||||||,TTTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3933-26245_3933-26244insCAAA|||||||rs10672010||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28056613_28056614insGTTT|||||||||||||,TTTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3933-26245_3933-26244insCAAA|||||||rs10672010||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28056613_28056614insGTTT|||||||||||||,TTTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3933-26245_3933-26244insCAAA|||||||rs10672010||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28056613_28056614insGTTT|||||||||||||,TTTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3843-26245_3843-26244insCAAA|||||||rs10672010||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28056613_28056614insGTTT|||||||||||||,TTTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3855-26245_3855-26244insCAAA|||||||rs10672010||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28056613_28056614insGTTT|||||||||||||,TTTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3627-26245_3627-26244insCAAA|||||||rs10672010||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28056613_28056614insGTTT|||||||||||||;TYPE=INDEL;VEP_Allele=TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000466709,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000239249,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,RN7SL757P,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=136911;gnomADv4_1_AC_joint_XX=69677;gnomADv4_1_AC_joint_XY=67234;gnomADv4_1_AF_grpmax_joint=0.999422;gnomADv4_1_AF_joint=0.900766;gnomADv4_1_AF_joint_XX=0.89679;gnomADv4_1_AF_joint_XY=0.904923;gnomADv4_1_AN_grpmax_joint=5190;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61952;gnomADv4_1_nhomalt_joint_XX=31408;gnomADv4_1_nhomalt_joint_XY=30544;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28058418 chr22_28058418_C_A C A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=7.6;CADD_Rawscore=0.724125;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3933-28052G>T|||||||rs73166788||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28058418C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.57-28052G>T|||||||rs73166788||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||C|C||||chr22:g.28058418C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RN7SL757P|ENSG00000239249|Transcript|ENST00000466709|misc_RNA||||||||||rs73166788|1965|-1||HGNC|HGNC:46773|||||||||Ensembl||C|C||||chr22:g.28058418C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3552-28052G>T|||||||rs73166788||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28058418C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3933-28052G>T|||||||rs73166788||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28058418C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3933-28052G>T|||||||rs73166788||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28058418C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3579-28052G>T|||||||rs73166788||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28058418C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3579-28052G>T|||||||rs73166788||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28058418C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3855-28052G>T|||||||rs73166788||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28058418C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3933-28052G>T|||||||rs73166788||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28058418C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3933-28052G>T|||||||rs73166788||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28058418C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3933-28052G>T|||||||rs73166788||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28058418C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3843-28052G>T|||||||rs73166788||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28058418C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3855-28052G>T|||||||rs73166788||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28058418C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3627-28052G>T|||||||rs73166788||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28058418C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-49|-4|2|-21;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000466709,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000239249,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,RN7SL757P,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5015;gnomADv4_1_AC_joint_XX=2722;gnomADv4_1_AC_joint_XY=2293;gnomADv4_1_AF_grpmax_joint=0.0646259;gnomADv4_1_AF_joint=0.0330091;gnomADv4_1_AF_joint_XX=0.0350295;gnomADv4_1_AF_joint_XY=0.0308938;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151928;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=116;gnomADv4_1_nhomalt_joint_XX=67;gnomADv4_1_nhomalt_joint_XY=49;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28058667 chr22_28058667_T_G T G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=4.634;CADD_Rawscore=0.422116;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3933-28301A>C|||||||rs4312589||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28058667T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.57-28301A>C|||||||rs4312589||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||T|T||||chr22:g.28058667T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RN7SL757P|ENSG00000239249|Transcript|ENST00000466709|misc_RNA||||||||||rs4312589|2214|-1||HGNC|HGNC:46773|||||||||Ensembl||T|T||||chr22:g.28058667T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3552-28301A>C|||||||rs4312589||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28058667T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3933-28301A>C|||||||rs4312589||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28058667T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3933-28301A>C|||||||rs4312589||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28058667T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3579-28301A>C|||||||rs4312589||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28058667T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3579-28301A>C|||||||rs4312589||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28058667T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3855-28301A>C|||||||rs4312589||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28058667T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3933-28301A>C|||||||rs4312589||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28058667T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3933-28301A>C|||||||rs4312589||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28058667T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3933-28301A>C|||||||rs4312589||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28058667T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3843-28301A>C|||||||rs4312589||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28058667T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3855-28301A>C|||||||rs4312589||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28058667T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3627-28301A>C|||||||rs4312589||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28058667T>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-9|32|-39|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000466709,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000239249,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,RN7SL757P,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61038;gnomADv4_1_AC_joint_XX=31043;gnomADv4_1_AC_joint_XY=29995;gnomADv4_1_AF_grpmax_joint=0.508915;gnomADv4_1_AF_joint=0.402158;gnomADv4_1_AF_joint_XX=0.400049;gnomADv4_1_AF_joint_XY=0.404365;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151776;gnomADv4_1_AN_joint_XX=77598;gnomADv4_1_AN_joint_XY=74178;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12780;gnomADv4_1_nhomalt_joint_XX=6471;gnomADv4_1_nhomalt_joint_XY=6309;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28061539 chr22_28061539_G_A G A 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.946;CADD_Rawscore=0.156613;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3933-31173C>T|||||||rs5752690||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28061539G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.57-31173C>T|||||||rs5752690||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||G|G||||chr22:g.28061539G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3552-31173C>T|||||||rs5752690||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28061539G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3933-31173C>T|||||||rs5752690||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28061539G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3933-31173C>T|||||||rs5752690||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28061539G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3579-31173C>T|||||||rs5752690||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28061539G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3579-31173C>T|||||||rs5752690||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28061539G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3855-31173C>T|||||||rs5752690||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28061539G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3933-31173C>T|||||||rs5752690||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28061539G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3933-31173C>T|||||||rs5752690||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28061539G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3933-31173C>T|||||||rs5752690||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28061539G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3843-31173C>T|||||||rs5752690||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28061539G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3855-31173C>T|||||||rs5752690||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28061539G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3627-31173C>T|||||||rs5752690||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28061539G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-50|7|7|4;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6304;gnomADv4_1_AC_joint_XX=3031;gnomADv4_1_AC_joint_XY=3273;gnomADv4_1_AF_grpmax_joint=0.137852;gnomADv4_1_AF_joint=0.0414246;gnomADv4_1_AF_joint_XX=0.0389699;gnomADv4_1_AF_joint_XY=0.0439908;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=223;gnomADv4_1_nhomalt_joint_XX=93;gnomADv4_1_nhomalt_joint_XY=130;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28061594 chr22_28061594_A_G A G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=5.347;CADD_Rawscore=0.48881;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3933-31228T>C|||||||rs112884957||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28061594A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.57-31228T>C|||||||rs112884957||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||A|A||||chr22:g.28061594A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3552-31228T>C|||||||rs112884957||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28061594A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3933-31228T>C|||||||rs112884957||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28061594A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3933-31228T>C|||||||rs112884957||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28061594A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3579-31228T>C|||||||rs112884957||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28061594A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3579-31228T>C|||||||rs112884957||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28061594A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3855-31228T>C|||||||rs112884957||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28061594A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3933-31228T>C|||||||rs112884957||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28061594A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3933-31228T>C|||||||rs112884957||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28061594A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3933-31228T>C|||||||rs112884957||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28061594A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3843-31228T>C|||||||rs112884957||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28061594A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3855-31228T>C|||||||rs112884957||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28061594A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3627-31228T>C|||||||rs112884957||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28061594A>G|||1||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-48|5|-48|5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12628;gnomADv4_1_AC_joint_XX=6416;gnomADv4_1_AC_joint_XY=6212;gnomADv4_1_AF_grpmax_joint=0.237453;gnomADv4_1_AF_joint=0.0829382;gnomADv4_1_AF_joint_XX=0.0824467;gnomADv4_1_AF_joint_XY=0.083452;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152258;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=714;gnomADv4_1_nhomalt_joint_XX=356;gnomADv4_1_nhomalt_joint_XY=358;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28062413 chr22_28062413_CT_C;chr22_28062413_CTTT_C CT C 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=22;CADDIndel_PHREDscore=0.076;CADDIndel_Rawscore=-0.685704;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+31666del|||||||rs57398979||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+31666del|||||||rs57398979||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||T|T||||chr22:g.28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+31666del|||||||rs57398979||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28062432del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-33|-23|-4|14;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24036;gnomADv4_1_AC_joint_XX=12941;gnomADv4_1_AC_joint_XY=11095;gnomADv4_1_AF_grpmax_joint=0.34375;gnomADv4_1_AF_joint=0.235347;gnomADv4_1_AF_joint_XX=0.236971;gnomADv4_1_AF_joint_XY=0.233481;gnomADv4_1_AN_grpmax_joint=3392;gnomADv4_1_AN_joint=102130;gnomADv4_1_AN_joint_XX=54610;gnomADv4_1_AN_joint_XY=47520;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2160;gnomADv4_1_nhomalt_joint_XX=1143;gnomADv4_1_nhomalt_joint_XY=1017;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28062413 chr22_28062413_CT_C;chr22_28062413_CTTT_C CTTT C 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=23;CADDIndel_PHREDscore=0.248;CADDIndel_Rawscore=-0.370673;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+31664_3932+31666del|||||||rs57398979||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||TTT|TTT||||chr22:g.28062430_28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+31664_56+31666del|||||||rs57398979||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||TTT|TTT||||chr22:g.28062430_28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+31664_3551+31666del|||||||rs57398979||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||TTT|TTT||||chr22:g.28062430_28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+31664_3932+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||TTT|TTT||||chr22:g.28062430_28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+31664_3932+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||TTT|TTT||||chr22:g.28062430_28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+31664_3578+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||TTT|TTT||||chr22:g.28062430_28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+31664_3578+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||TTT|TTT||||chr22:g.28062430_28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+31664_3854+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||TTT|TTT||||chr22:g.28062430_28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+31664_3932+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||TTT|TTT||||chr22:g.28062430_28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+31664_3932+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||TTT|TTT||||chr22:g.28062430_28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+31664_3932+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||TTT|TTT||||chr22:g.28062430_28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+31664_3842+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||TTT|TTT||||chr22:g.28062430_28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+31664_3854+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||TTT|TTT||||chr22:g.28062430_28062432del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+31664_3626+31666del|||||||rs57398979||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||TTT|TTT||||chr22:g.28062430_28062432del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-4|-23|-43|14;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3395;gnomADv4_1_AC_joint_XX=1771;gnomADv4_1_AC_joint_XY=1624;gnomADv4_1_AF_grpmax_joint=0.0919654;gnomADv4_1_AF_joint=0.0331867;gnomADv4_1_AF_joint_XX=0.0323636;gnomADv4_1_AF_joint_XY=0.0341334;gnomADv4_1_AN_grpmax_joint=27282;gnomADv4_1_AN_joint=102300;gnomADv4_1_AN_joint_XX=54722;gnomADv4_1_AN_joint_XY=47578;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=101;gnomADv4_1_nhomalt_joint_XX=50;gnomADv4_1_nhomalt_joint_XY=51;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28066275 chr22_28066275_C_CGTGT;chr22_28066275_C_CGT C CGTGT 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=1.153;CADDIndel_Rawscore=0.019138;CSQ=GTGT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+27801_3932+27804dup|||||||rs796325170||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28066301_28066304dup|||||||||||||,GTGT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+27801_56+27804dup|||||||rs796325170||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl|||||||chr22:g.28066301_28066304dup|||||||||||||,GTGT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+27801_3551+27804dup|||||||rs796325170||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28066301_28066304dup|||||||||||||,GTGT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+27801_3932+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28066301_28066304dup|||||||||||||,GTGT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+27801_3932+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28066301_28066304dup|||||||||||||,GTGT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+27801_3578+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28066301_28066304dup|||||||||||||,GTGT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+27801_3578+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28066301_28066304dup|||||||||||||,GTGT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+27801_3854+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28066301_28066304dup|||||||||||||,GTGT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+27801_3932+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28066301_28066304dup|||||||||||||,GTGT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+27801_3932+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28066301_28066304dup|||||||||||||,GTGT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+27801_3932+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28066301_28066304dup|||||||||||||,GTGT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+27801_3842+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28066301_28066304dup|||||||||||||,GTGT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+27801_3854+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28066301_28066304dup|||||||||||||,GTGT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+27801_3626+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28066301_28066304dup|||||||||||||;TYPE=INDEL;VEP_Allele=GTGT,GTGT,GTGT,GTGT,GTGT,GTGT,GTGT,GTGT,GTGT,GTGT,GTGT,GTGT,GTGT,GTGT;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2014;gnomADv4_1_AC_joint_XX=1063;gnomADv4_1_AC_joint_XY=951;gnomADv4_1_AF_grpmax_joint=0.0379208;gnomADv4_1_AF_joint=0.0148466;gnomADv4_1_AF_joint_XX=0.0152445;gnomADv4_1_AF_joint_XY=0.0144257;gnomADv4_1_AN_grpmax_joint=39266;gnomADv4_1_AN_joint=135654;gnomADv4_1_AN_joint_XX=69730;gnomADv4_1_AN_joint_XY=65924;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=29;gnomADv4_1_nhomalt_joint_XX=14;gnomADv4_1_nhomalt_joint_XY=15;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28066275 chr22_28066275_C_CGTGT;chr22_28066275_C_CGT C CGT 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=1.182;CADDIndel_Rawscore=0.025733;CSQ=GT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+27803_3932+27804dup|||||||rs796325170||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28066303_28066304dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+27803_56+27804dup|||||||rs796325170||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl|||||||chr22:g.28066303_28066304dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+27803_3551+27804dup|||||||rs796325170||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28066303_28066304dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+27803_3932+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28066303_28066304dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+27803_3932+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28066303_28066304dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+27803_3578+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28066303_28066304dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+27803_3578+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28066303_28066304dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+27803_3854+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28066303_28066304dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+27803_3932+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28066303_28066304dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+27803_3932+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28066303_28066304dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+27803_3932+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28066303_28066304dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+27803_3842+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28066303_28066304dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+27803_3854+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28066303_28066304dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+27803_3626+27804dup|||||||rs796325170||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28066303_28066304dup|||||||||||||;TYPE=INDEL;VEP_Allele=GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13458;gnomADv4_1_AC_joint_XX=6730;gnomADv4_1_AC_joint_XY=6728;gnomADv4_1_AF_grpmax_joint=0.185989;gnomADv4_1_AF_joint=0.0992654;gnomADv4_1_AF_joint_XX=0.0965456;gnomADv4_1_AF_joint_XY=0.102144;gnomADv4_1_AN_grpmax_joint=4054;gnomADv4_1_AN_joint=135576;gnomADv4_1_AN_joint_XX=69708;gnomADv4_1_AN_joint_XY=65868;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=662;gnomADv4_1_nhomalt_joint_XX=314;gnomADv4_1_nhomalt_joint_XY=348;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28066768 chr22_28066768_A_G A G 35 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.112;CADD_Rawscore=-0.581387;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+27312T>C|||||||rs138683||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28066768A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+27312T>C|||||||rs138683||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||A|A||||chr22:g.28066768A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+27312T>C|||||||rs138683||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28066768A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+27312T>C|||||||rs138683||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28066768A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+27312T>C|||||||rs138683||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28066768A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+27312T>C|||||||rs138683||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28066768A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+27312T>C|||||||rs138683||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28066768A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+27312T>C|||||||rs138683||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28066768A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+27312T>C|||||||rs138683||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28066768A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+27312T>C|||||||rs138683||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28066768A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+27312T>C|||||||rs138683||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28066768A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+27312T>C|||||||rs138683||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28066768A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+27312T>C|||||||rs138683||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28066768A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+27312T>C|||||||rs138683||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28066768A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-29|-7|-29|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90580;gnomADv4_1_AC_joint_XX=46048;gnomADv4_1_AC_joint_XY=44532;gnomADv4_1_AF_grpmax_joint=0.715474;gnomADv4_1_AF_joint=0.596329;gnomADv4_1_AF_joint_XX=0.592837;gnomADv4_1_AF_joint_XY=0.599984;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=151896;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=27617;gnomADv4_1_nhomalt_joint_XX=13936;gnomADv4_1_nhomalt_joint_XY=13681;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28069616 chr22_28069616_A_G A G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=3.128;CADD_Rawscore=0.286627;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+24464T>C|||||||rs138684||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28069616A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+24464T>C|||||||rs138684||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||A|A||||chr22:g.28069616A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+24464T>C|||||||rs138684||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28069616A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+24464T>C|||||||rs138684||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28069616A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+24464T>C|||||||rs138684||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28069616A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+24464T>C|||||||rs138684||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28069616A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+24464T>C|||||||rs138684||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28069616A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+24464T>C|||||||rs138684||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28069616A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+24464T>C|||||||rs138684||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28069616A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+24464T>C|||||||rs138684||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28069616A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+24464T>C|||||||rs138684||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28069616A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+24464T>C|||||||rs138684||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28069616A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+24464T>C|||||||rs138684||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28069616A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+24464T>C|||||||rs138684||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28069616A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|45|-12|-20|46;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80280;gnomADv4_1_AC_joint_XX=40849;gnomADv4_1_AC_joint_XY=39431;gnomADv4_1_AF_grpmax_joint=0.603378;gnomADv4_1_AF_joint=0.528262;gnomADv4_1_AF_joint_XX=0.525741;gnomADv4_1_AF_joint_XY=0.5309;gnomADv4_1_AN_grpmax_joint=41440;gnomADv4_1_AN_joint=151970;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=21533;gnomADv4_1_nhomalt_joint_XX=10926;gnomADv4_1_nhomalt_joint_XY=10607;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28069925 chr22_28069925_AAC_A;chr22_28069925_AACACAC_A AAC A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.751;CADDIndel_Rawscore=-0.091285;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+24153_3932+24154del|||||||rs60436240||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||AC|AC||||chr22:g.28069967_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+24153_56+24154del|||||||rs60436240||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||AC|AC||||chr22:g.28069967_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+24153_3551+24154del|||||||rs60436240||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||AC|AC||||chr22:g.28069967_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+24153_3932+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||AC|AC||||chr22:g.28069967_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+24153_3932+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||AC|AC||||chr22:g.28069967_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+24153_3578+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||AC|AC||||chr22:g.28069967_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+24153_3578+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||AC|AC||||chr22:g.28069967_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+24153_3854+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||AC|AC||||chr22:g.28069967_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+24153_3932+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||AC|AC||||chr22:g.28069967_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+24153_3932+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||AC|AC||||chr22:g.28069967_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+24153_3932+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||AC|AC||||chr22:g.28069967_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+24153_3842+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||AC|AC||||chr22:g.28069967_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+24153_3854+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||AC|AC||||chr22:g.28069967_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+24153_3626+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||AC|AC||||chr22:g.28069967_28069968del|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|35|34|-21|37;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26270;gnomADv4_1_AC_joint_XX=13709;gnomADv4_1_AC_joint_XY=12561;gnomADv4_1_AF_grpmax_joint=0.227997;gnomADv4_1_AF_joint=0.185339;gnomADv4_1_AF_joint_XX=0.187759;gnomADv4_1_AF_joint_XY=0.182769;gnomADv4_1_AN_grpmax_joint=14180;gnomADv4_1_AN_joint=141740;gnomADv4_1_AN_joint_XX=73014;gnomADv4_1_AN_joint_XY=68726;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=2271;gnomADv4_1_nhomalt_joint_XX=1189;gnomADv4_1_nhomalt_joint_XY=1082;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28069925 chr22_28069925_AAC_A;chr22_28069925_AACACAC_A AACACAC A 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.979;CADDIndel_Rawscore=-0.023423;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+24149_3932+24154del|||||||rs60436240||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||ACACAC|ACACAC||||chr22:g.28069963_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+24149_56+24154del|||||||rs60436240||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||ACACAC|ACACAC||||chr22:g.28069963_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+24149_3551+24154del|||||||rs60436240||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||ACACAC|ACACAC||||chr22:g.28069963_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+24149_3932+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28069963_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+24149_3932+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28069963_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+24149_3578+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28069963_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+24149_3578+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28069963_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+24149_3854+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28069963_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+24149_3932+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28069963_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+24149_3932+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28069963_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+24149_3932+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28069963_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+24149_3842+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28069963_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+24149_3854+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28069963_28069968del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+24149_3626+24154del|||||||rs60436240||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28069963_28069968del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16684;gnomADv4_1_AC_joint_XX=8284;gnomADv4_1_AC_joint_XY=8400;gnomADv4_1_AF_grpmax_joint=0.214844;gnomADv4_1_AF_joint=0.117452;gnomADv4_1_AF_joint_XX=0.11325;gnomADv4_1_AF_joint_XY=0.121912;gnomADv4_1_AN_grpmax_joint=4352;gnomADv4_1_AN_joint=142050;gnomADv4_1_AN_joint_XX=73148;gnomADv4_1_AN_joint_XY=68902;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=959;gnomADv4_1_nhomalt_joint_XX=477;gnomADv4_1_nhomalt_joint_XY=482;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28071733 chr22_28071733_T_TA T TA 21 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=21;CADDIndel_PHREDscore=0.751;CADDIndel_Rawscore=-0.091224;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+22346dup|||||||rs368033113||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28071746dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+22346dup|||||||rs368033113||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl|||||||chr22:g.28071746dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+22346dup|||||||rs368033113||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28071746dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+22346dup|||||||rs368033113||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28071746dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+22346dup|||||||rs368033113||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28071746dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+22346dup|||||||rs368033113||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28071746dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+22346dup|||||||rs368033113||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28071746dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+22346dup|||||||rs368033113||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28071746dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+22346dup|||||||rs368033113||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28071746dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+22346dup|||||||rs368033113||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28071746dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+22346dup|||||||rs368033113||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28071746dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+22346dup|||||||rs368033113||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28071746dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+22346dup|||||||rs368033113||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28071746dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+22346dup|||||||rs368033113||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28071746dup|||||||||||||;SpliceAI=TA|TTC28|0.00|0.00|0.00|0.00|-13|-19|27|-40;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1387;gnomADv4_1_AC_joint_XX=752;gnomADv4_1_AC_joint_XY=635;gnomADv4_1_AF_grpmax_joint=0.0306122;gnomADv4_1_AF_joint=0.0267936;gnomADv4_1_AF_joint_XX=0.0276267;gnomADv4_1_AF_joint_XY=0.0258698;gnomADv4_1_AN_grpmax_joint=98;gnomADv4_1_AN_joint=51766;gnomADv4_1_AN_joint_XX=27220;gnomADv4_1_AN_joint_XY=24546;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19;gnomADv4_1_nhomalt_joint_XX=9;gnomADv4_1_nhomalt_joint_XY=10;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28072515 chr22_28072515_G_A G A 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=2.874;CADD_Rawscore=0.262228;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+21565C>T|||||||rs993511737||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28072515G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+21565C>T|||||||rs993511737||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||G|G||||chr22:g.28072515G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+21565C>T|||||||rs993511737||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28072515G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+21565C>T|||||||rs993511737||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28072515G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+21565C>T|||||||rs993511737||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28072515G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+21565C>T|||||||rs993511737||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28072515G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+21565C>T|||||||rs993511737||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28072515G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+21565C>T|||||||rs993511737||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28072515G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+21565C>T|||||||rs993511737||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28072515G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+21565C>T|||||||rs993511737||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28072515G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+21565C>T|||||||rs993511737||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28072515G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+21565C>T|||||||rs993511737||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28072515G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+21565C>T|||||||rs993511737||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28072515G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+21565C>T|||||||rs993511737||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28072515G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-49|13|1|-3;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44;gnomADv4_1_AC_joint_XX=8;gnomADv4_1_AC_joint_XY=36;gnomADv4_1_AF_grpmax_joint=0.002028;gnomADv4_1_AF_joint=0.000289124;gnomADv4_1_AF_joint_XX=0.000102764;gnomADv4_1_AF_joint_XY=0.000484288;gnomADv4_1_AN_grpmax_joint=15286;gnomADv4_1_AN_joint=152184;gnomADv4_1_AN_joint_XX=77848;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28073642 chr22_28073642_A_G A G 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.846;CADD_Rawscore=0.351582;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+20438T>C|||||||rs138685||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28073642A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+20438T>C|||||||rs138685||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||A|A||||chr22:g.28073642A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+20438T>C|||||||rs138685||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28073642A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+20438T>C|||||||rs138685||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28073642A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+20438T>C|||||||rs138685||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28073642A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+20438T>C|||||||rs138685||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28073642A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+20438T>C|||||||rs138685||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28073642A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+20438T>C|||||||rs138685||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28073642A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+20438T>C|||||||rs138685||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28073642A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+20438T>C|||||||rs138685||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28073642A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+20438T>C|||||||rs138685||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28073642A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+20438T>C|||||||rs138685||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28073642A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+20438T>C|||||||rs138685||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28073642A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+20438T>C|||||||rs138685||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28073642A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|13|-16|-34|6;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=93841;gnomADv4_1_AC_joint_XX=47751;gnomADv4_1_AC_joint_XY=46090;gnomADv4_1_AF_grpmax_joint=0.789911;gnomADv4_1_AF_joint=0.616856;gnomADv4_1_AF_joint_XX=0.614177;gnomADv4_1_AF_joint_XY=0.619656;gnomADv4_1_AN_grpmax_joint=41492;gnomADv4_1_AN_joint=152128;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=30070;gnomADv4_1_nhomalt_joint_XX=15221;gnomADv4_1_nhomalt_joint_XY=14849;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28077305 chr22_28077305_T_C T C 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.649;CADD_Rawscore=0.112993;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+16775A>G|||||||rs1392860469||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28077305T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+16775A>G|||||||rs1392860469||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||T|T||||chr22:g.28077305T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+16775A>G|||||||rs1392860469||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28077305T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+16775A>G|||||||rs1392860469||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28077305T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+16775A>G|||||||rs1392860469||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28077305T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+16775A>G|||||||rs1392860469||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28077305T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+16775A>G|||||||rs1392860469||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28077305T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+16775A>G|||||||rs1392860469||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28077305T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+16775A>G|||||||rs1392860469||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28077305T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+16775A>G|||||||rs1392860469||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28077305T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+16775A>G|||||||rs1392860469||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28077305T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+16775A>G|||||||rs1392860469||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28077305T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+16775A>G|||||||rs1392860469||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28077305T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+16775A>G|||||||rs1392860469||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28077305T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-22|3|-22|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5;gnomADv4_1_AC_joint_XX=2;gnomADv4_1_AC_joint_XY=3;gnomADv4_1_AF_joint=3.28524e-05;gnomADv4_1_AF_joint_XX=2.56891e-05;gnomADv4_1_AF_joint_XY=4.0354e-05;gnomADv4_1_AN_joint=152196;gnomADv4_1_AN_joint_XX=77854;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28081152 chr22_28081152_TAC_T TAC T 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.476;CADDIndel_Rawscore=-0.205363;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+12926_3932+12927del|||||||rs59531236||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||AC|AC||||chr22:g.28081176_28081177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+12926_56+12927del|||||||rs59531236||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||AC|AC||||chr22:g.28081176_28081177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+12926_3551+12927del|||||||rs59531236||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||AC|AC||||chr22:g.28081176_28081177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+12926_3932+12927del|||||||rs59531236||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||AC|AC||||chr22:g.28081176_28081177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+12926_3932+12927del|||||||rs59531236||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||AC|AC||||chr22:g.28081176_28081177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+12926_3578+12927del|||||||rs59531236||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||AC|AC||||chr22:g.28081176_28081177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+12926_3578+12927del|||||||rs59531236||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||AC|AC||||chr22:g.28081176_28081177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+12926_3854+12927del|||||||rs59531236||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||AC|AC||||chr22:g.28081176_28081177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+12926_3932+12927del|||||||rs59531236||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||AC|AC||||chr22:g.28081176_28081177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+12926_3932+12927del|||||||rs59531236||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||AC|AC||||chr22:g.28081176_28081177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+12926_3932+12927del|||||||rs59531236||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||AC|AC||||chr22:g.28081176_28081177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+12926_3842+12927del|||||||rs59531236||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||AC|AC||||chr22:g.28081176_28081177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+12926_3854+12927del|||||||rs59531236||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||AC|AC||||chr22:g.28081176_28081177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+12926_3626+12927del|||||||rs59531236||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||AC|AC||||chr22:g.28081176_28081177del|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-50|32|5|3;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=127822;gnomADv4_1_AC_joint_XX=65402;gnomADv4_1_AC_joint_XY=62420;gnomADv4_1_AF_grpmax_joint=0.978065;gnomADv4_1_AF_joint=0.857716;gnomADv4_1_AF_joint_XX=0.856182;gnomADv4_1_AF_joint_XY=0.85933;gnomADv4_1_AN_grpmax_joint=5106;gnomADv4_1_AN_joint=149026;gnomADv4_1_AN_joint_XX=76388;gnomADv4_1_AN_joint_XY=72638;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=54824;gnomADv4_1_nhomalt_joint_XX=27991;gnomADv4_1_nhomalt_joint_XY=26833;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28081488 chr22_28081488_C_A C A 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.861;CADD_Rawscore=0.26097;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+12592G>T|||||||rs559482337||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28081488C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+12592G>T|||||||rs559482337||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||C|C||||chr22:g.28081488C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+12592G>T|||||||rs559482337||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28081488C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+12592G>T|||||||rs559482337||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28081488C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+12592G>T|||||||rs559482337||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28081488C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+12592G>T|||||||rs559482337||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28081488C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+12592G>T|||||||rs559482337||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28081488C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+12592G>T|||||||rs559482337||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28081488C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+12592G>T|||||||rs559482337||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28081488C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+12592G>T|||||||rs559482337||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28081488C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+12592G>T|||||||rs559482337||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28081488C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+12592G>T|||||||rs559482337||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28081488C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+12592G>T|||||||rs559482337||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28081488C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+12592G>T|||||||rs559482337||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28081488C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-17|-9|38|1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=168;gnomADv4_1_AC_joint_XX=78;gnomADv4_1_AC_joint_XY=90;gnomADv4_1_AF_grpmax_joint=0.00340136;gnomADv4_1_AF_joint=0.00111763;gnomADv4_1_AF_joint_XX=0.00101217;gnomADv4_1_AF_joint_XY=0.00122857;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=150318;gnomADv4_1_AN_joint_XX=77062;gnomADv4_1_AN_joint_XY=73256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28082997 chr22_28082997_G_A G A 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.545;CADD_Rawscore=-0.171705;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+11083C>T|||||||rs130408||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28082997G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+11083C>T|||||||rs130408||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||G|G||||chr22:g.28082997G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+11083C>T|||||||rs130408||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28082997G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+11083C>T|||||||rs130408||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28082997G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+11083C>T|||||||rs130408||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28082997G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+11083C>T|||||||rs130408||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28082997G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+11083C>T|||||||rs130408||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28082997G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+11083C>T|||||||rs130408||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28082997G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+11083C>T|||||||rs130408||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28082997G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+11083C>T|||||||rs130408||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28082997G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+11083C>T|||||||rs130408||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28082997G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+11083C>T|||||||rs130408||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28082997G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+11083C>T|||||||rs130408||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28082997G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+11083C>T|||||||rs130408||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28082997G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-30|19|42|19;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50391;gnomADv4_1_AC_joint_XX=25570;gnomADv4_1_AC_joint_XY=24821;gnomADv4_1_AF_grpmax_joint=0.53706;gnomADv4_1_AF_joint=0.332706;gnomADv4_1_AF_joint_XX=0.329884;gnomADv4_1_AF_joint_XY=0.335664;gnomADv4_1_AN_grpmax_joint=41284;gnomADv4_1_AN_joint=151458;gnomADv4_1_AN_joint_XX=77512;gnomADv4_1_AN_joint_XY=73946;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9654;gnomADv4_1_nhomalt_joint_XX=4857;gnomADv4_1_nhomalt_joint_XY=4797;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28083968 chr22_28083968_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.697;CADD_Rawscore=-0.110073;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+10112C>T|||||||rs150578762||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28083968G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+10112C>T|||||||rs150578762||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||G|G||||chr22:g.28083968G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+10112C>T|||||||rs150578762||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28083968G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+10112C>T|||||||rs150578762||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28083968G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+10112C>T|||||||rs150578762||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28083968G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+10112C>T|||||||rs150578762||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28083968G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+10112C>T|||||||rs150578762||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28083968G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+10112C>T|||||||rs150578762||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28083968G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+10112C>T|||||||rs150578762||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28083968G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+10112C>T|||||||rs150578762||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28083968G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+10112C>T|||||||rs150578762||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28083968G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+10112C>T|||||||rs150578762||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28083968G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+10112C>T|||||||rs150578762||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28083968G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+10112C>T|||||||rs150578762||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28083968G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-12|-31|-31|4;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4889;gnomADv4_1_AC_joint_XX=2451;gnomADv4_1_AC_joint_XY=2438;gnomADv4_1_AF_grpmax_joint=0.0467119;gnomADv4_1_AF_joint=0.0320851;gnomADv4_1_AF_joint_XX=0.0314788;gnomADv4_1_AF_joint_XY=0.0327187;gnomADv4_1_AN_grpmax_joint=68034;gnomADv4_1_AN_joint=152376;gnomADv4_1_AN_joint_XX=77862;gnomADv4_1_AN_joint_XY=74514;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=148;gnomADv4_1_nhomalt_joint_XX=69;gnomADv4_1_nhomalt_joint_XY=79;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28084131 chr22_28084131_A_C A C 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=5.739;CADD_Rawscore=0.527056;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+9949T>G|||||||rs5752692||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28084131A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+9949T>G|||||||rs5752692||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||A|A||||chr22:g.28084131A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+9949T>G|||||||rs5752692||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28084131A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+9949T>G|||||||rs5752692||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28084131A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+9949T>G|||||||rs5752692||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28084131A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+9949T>G|||||||rs5752692||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28084131A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+9949T>G|||||||rs5752692||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28084131A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+9949T>G|||||||rs5752692||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28084131A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+9949T>G|||||||rs5752692||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28084131A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+9949T>G|||||||rs5752692||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28084131A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+9949T>G|||||||rs5752692||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28084131A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+9949T>G|||||||rs5752692||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28084131A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+9949T>G|||||||rs5752692||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28084131A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+9949T>G|||||||rs5752692||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28084131A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|1|-5|1|-33;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20738;gnomADv4_1_AC_joint_XX=10294;gnomADv4_1_AC_joint_XY=10444;gnomADv4_1_AF_grpmax_joint=0.382988;gnomADv4_1_AF_joint=0.136241;gnomADv4_1_AF_joint_XX=0.132303;gnomADv4_1_AF_joint_XY=0.140357;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152216;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1851;gnomADv4_1_nhomalt_joint_XX=891;gnomADv4_1_nhomalt_joint_XY=960;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28084411 chr22_28084411_G_A G A 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=2.791;CADD_Rawscore=0.25397;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+9669C>T|||||||rs191476975||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28084411G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+9669C>T|||||||rs191476975||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||G|G||||chr22:g.28084411G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+9669C>T|||||||rs191476975||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28084411G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+9669C>T|||||||rs191476975||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28084411G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+9669C>T|||||||rs191476975||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28084411G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+9669C>T|||||||rs191476975||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28084411G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+9669C>T|||||||rs191476975||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28084411G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+9669C>T|||||||rs191476975||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28084411G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+9669C>T|||||||rs191476975||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28084411G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+9669C>T|||||||rs191476975||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28084411G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+9669C>T|||||||rs191476975||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28084411G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+9669C>T|||||||rs191476975||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28084411G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+9669C>T|||||||rs191476975||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28084411G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+9669C>T|||||||rs191476975||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28084411G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|43|36|-22|-48;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6581;gnomADv4_1_AC_joint_XX=3163;gnomADv4_1_AC_joint_XY=3418;gnomADv4_1_AF_grpmax_joint=0.141909;gnomADv4_1_AF_joint=0.0432306;gnomADv4_1_AF_joint_XX=0.0406587;gnomADv4_1_AF_joint_XY=0.0459186;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152230;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=234;gnomADv4_1_nhomalt_joint_XX=97;gnomADv4_1_nhomalt_joint_XY=137;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28084887 chr22_28084887_G_A G A 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=4.48;CADD_Rawscore=0.408143;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+9193C>T|||||||rs112661343||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28084887G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+9193C>T|||||||rs112661343||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||G|G||||chr22:g.28084887G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+9193C>T|||||||rs112661343||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28084887G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+9193C>T|||||||rs112661343||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28084887G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+9193C>T|||||||rs112661343||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28084887G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+9193C>T|||||||rs112661343||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28084887G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+9193C>T|||||||rs112661343||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28084887G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+9193C>T|||||||rs112661343||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28084887G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+9193C>T|||||||rs112661343||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28084887G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+9193C>T|||||||rs112661343||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28084887G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+9193C>T|||||||rs112661343||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28084887G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+9193C>T|||||||rs112661343||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28084887G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+9193C>T|||||||rs112661343||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28084887G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+9193C>T|||||||rs112661343||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28084887G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|46|5|22|5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10098;gnomADv4_1_AC_joint_XX=5013;gnomADv4_1_AC_joint_XY=5085;gnomADv4_1_AF_grpmax_joint=0.154757;gnomADv4_1_AF_joint=0.0663897;gnomADv4_1_AF_joint_XX=0.0644892;gnomADv4_1_AF_joint_XY=0.0683762;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=471;gnomADv4_1_nhomalt_joint_XX=213;gnomADv4_1_nhomalt_joint_XY=258;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28085083 chr22_28085083_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=5.522;CADD_Rawscore=0.505689;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+8997G>A|||||||rs150217208||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28085083C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+8997G>A|||||||rs150217208||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||C|C||||chr22:g.28085083C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+8997G>A|||||||rs150217208||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28085083C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+8997G>A|||||||rs150217208||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28085083C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+8997G>A|||||||rs150217208||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28085083C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+8997G>A|||||||rs150217208||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28085083C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+8997G>A|||||||rs150217208||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28085083C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+8997G>A|||||||rs150217208||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28085083C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+8997G>A|||||||rs150217208||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28085083C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+8997G>A|||||||rs150217208||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28085083C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+8997G>A|||||||rs150217208||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28085083C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+8997G>A|||||||rs150217208||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28085083C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+8997G>A|||||||rs150217208||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28085083C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+8997G>A|||||||rs150217208||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28085083C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-40|-1|-39|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11835;gnomADv4_1_AC_joint_XX=5930;gnomADv4_1_AC_joint_XY=5905;gnomADv4_1_AF_grpmax_joint=0.217618;gnomADv4_1_AF_joint=0.0777759;gnomADv4_1_AF_joint_XX=0.0762309;gnomADv4_1_AF_joint_XY=0.0793918;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=152168;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=636;gnomADv4_1_nhomalt_joint_XX=312;gnomADv4_1_nhomalt_joint_XY=324;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28085142 chr22_28085142_A_C A C 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=4.33;CADD_Rawscore=0.394612;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+8938T>G|||||||rs59105820||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28085142A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+8938T>G|||||||rs59105820||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||A|A||||chr22:g.28085142A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+8938T>G|||||||rs59105820||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28085142A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+8938T>G|||||||rs59105820||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28085142A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+8938T>G|||||||rs59105820||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28085142A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+8938T>G|||||||rs59105820||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28085142A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+8938T>G|||||||rs59105820||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28085142A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+8938T>G|||||||rs59105820||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28085142A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+8938T>G|||||||rs59105820||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28085142A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+8938T>G|||||||rs59105820||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28085142A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+8938T>G|||||||rs59105820||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28085142A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+8938T>G|||||||rs59105820||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28085142A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+8938T>G|||||||rs59105820||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28085142A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+8938T>G|||||||rs59105820||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28085142A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|48|-25|-46|33;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21130;gnomADv4_1_AC_joint_XX=10534;gnomADv4_1_AC_joint_XY=10596;gnomADv4_1_AF_grpmax_joint=0.382698;gnomADv4_1_AF_joint=0.138988;gnomADv4_1_AF_joint_XX=0.135548;gnomADv4_1_AF_joint_XY=0.142584;gnomADv4_1_AN_grpmax_joint=4774;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1898;gnomADv4_1_nhomalt_joint_XX=910;gnomADv4_1_nhomalt_joint_XY=988;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28085881 chr22_28085881_A_G A G 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=3.784;CADD_Rawscore=0.346097;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+8199T>C|||||||rs5762471||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28085881A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+8199T>C|||||||rs5762471||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||A|A||||chr22:g.28085881A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+8199T>C|||||||rs5762471||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28085881A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+8199T>C|||||||rs5762471||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28085881A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+8199T>C|||||||rs5762471||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28085881A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+8199T>C|||||||rs5762471||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28085881A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+8199T>C|||||||rs5762471||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28085881A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+8199T>C|||||||rs5762471||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28085881A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+8199T>C|||||||rs5762471||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28085881A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+8199T>C|||||||rs5762471||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28085881A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+8199T>C|||||||rs5762471||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28085881A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+8199T>C|||||||rs5762471||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28085881A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+8199T>C|||||||rs5762471||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28085881A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+8199T>C|||||||rs5762471||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28085881A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|0|-13|0|44;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21763;gnomADv4_1_AC_joint_XX=10841;gnomADv4_1_AC_joint_XY=10922;gnomADv4_1_AF_grpmax_joint=0.382917;gnomADv4_1_AF_joint=0.143074;gnomADv4_1_AF_joint_XX=0.139402;gnomADv4_1_AF_joint_XY=0.146916;gnomADv4_1_AN_grpmax_joint=4800;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1954;gnomADv4_1_nhomalt_joint_XX=939;gnomADv4_1_nhomalt_joint_XY=1015;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28087830 chr22_28087830_C_T C T 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=2.157;CADD_Rawscore=0.18398;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+6250G>A|||||||rs866865113||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28087830C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+6250G>A|||||||rs866865113||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||C|C||||chr22:g.28087830C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+6250G>A|||||||rs866865113||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28087830C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+6250G>A|||||||rs866865113||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28087830C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+6250G>A|||||||rs866865113||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28087830C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+6250G>A|||||||rs866865113||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28087830C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+6250G>A|||||||rs866865113||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28087830C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+6250G>A|||||||rs866865113||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28087830C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+6250G>A|||||||rs866865113||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28087830C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+6250G>A|||||||rs866865113||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28087830C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+6250G>A|||||||rs866865113||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28087830C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+6250G>A|||||||rs866865113||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28087830C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+6250G>A|||||||rs866865113||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28087830C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+6250G>A|||||||rs866865113||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28087830C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-10|23|17|31;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151;gnomADv4_1_AC_joint_XX=69;gnomADv4_1_AC_joint_XY=82;gnomADv4_1_AF_grpmax_joint=0.00242052;gnomADv4_1_AF_joint=0.000991946;gnomADv4_1_AF_joint_XX=0.000886867;gnomADv4_1_AF_joint_XY=0.0011018;gnomADv4_1_AN_grpmax_joint=15286;gnomADv4_1_AN_joint=152226;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28088796 chr22_28088796_G_T G T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.653;CADD_Rawscore=-0.126345;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+5284C>A|||||||rs130410||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28088796G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+5284C>A|||||||rs130410||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||G|G||||chr22:g.28088796G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+5284C>A|||||||rs130410||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28088796G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+5284C>A|||||||rs130410||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28088796G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+5284C>A|||||||rs130410||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28088796G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+5284C>A|||||||rs130410||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28088796G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+5284C>A|||||||rs130410||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28088796G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+5284C>A|||||||rs130410||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28088796G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+5284C>A|||||||rs130410||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28088796G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+5284C>A|||||||rs130410||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28088796G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+5284C>A|||||||rs130410||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28088796G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+5284C>A|||||||rs130410||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28088796G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+5284C>A|||||||rs130410||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28088796G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+5284C>A|||||||rs130410||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28088796G>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-40|3|37|-35;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=140026;gnomADv4_1_AC_joint_XX=71505;gnomADv4_1_AC_joint_XY=68521;gnomADv4_1_AF_grpmax_joint=0.980287;gnomADv4_1_AF_joint=0.919832;gnomADv4_1_AF_joint_XX=0.919087;gnomADv4_1_AF_joint_XY=0.92061;gnomADv4_1_AN_grpmax_joint=41546;gnomADv4_1_AN_joint=152230;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=64525;gnomADv4_1_nhomalt_joint_XX=32927;gnomADv4_1_nhomalt_joint_XY=31598;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28092117 chr22_28092117_G_T G T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=7.428;CADD_Rawscore=0.705056;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+1963C>A|||||||rs130413||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28092117G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+1963C>A|||||||rs130413||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||G|G||||chr22:g.28092117G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+1963C>A|||||||rs130413||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28092117G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+1963C>A|||||||rs130413||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28092117G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+1963C>A|||||||rs130413||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28092117G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+1963C>A|||||||rs130413||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28092117G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+1963C>A|||||||rs130413||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28092117G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+1963C>A|||||||rs130413||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28092117G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+1963C>A|||||||rs130413||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28092117G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+1963C>A|||||||rs130413||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28092117G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+1963C>A|||||||rs130413||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28092117G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+1963C>A|||||||rs130413||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28092117G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+1963C>A|||||||rs130413||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28092117G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+1963C>A|||||||rs130413||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28092117G>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-14|14|39|42;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118059;gnomADv4_1_AC_joint_XX=60080;gnomADv4_1_AC_joint_XY=57979;gnomADv4_1_AF_grpmax_joint=0.858431;gnomADv4_1_AF_joint=0.776183;gnomADv4_1_AF_joint_XX=0.772892;gnomADv4_1_AF_joint_XY=0.779623;gnomADv4_1_AN_grpmax_joint=15300;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=46420;gnomADv4_1_nhomalt_joint_XX=23500;gnomADv4_1_nhomalt_joint_XY=22920;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28092307 chr22_28092307_C_T C T 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=27;CADD_PHREDscore=0.639;CADD_Rawscore=-0.131793;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||12/22|ENST00000397906.7:c.3932+1773G>A|||||||rs5762474||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28092307C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||1/2|ENST00000442232.1:c.56+1773G>A|||||||rs5762474||-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||C|C||||chr22:g.28092307C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||10/20|ENST00000612946.4:c.3551+1773G>A|||||||rs5762474||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28092307C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||12/22|NM_001145418.2:c.3932+1773G>A|||||||rs5762474||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28092307C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||12/21|NM_001393403.1:c.3932+1773G>A|||||||rs5762474||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28092307C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||11/21|NM_001393404.1:c.3578+1773G>A|||||||rs5762474||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28092307C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||11/20|NM_001393405.1:c.3578+1773G>A|||||||rs5762474||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28092307C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||12/22|XM_011530018.4:c.3854+1773G>A|||||||rs5762474||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28092307C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||12/14|XM_011530019.3:c.3932+1773G>A|||||||rs5762474||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28092307C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||12/13|XM_011530020.2:c.3932+1773G>A|||||||rs5762474||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28092307C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||12/14|XM_011530021.4:c.3932+1773G>A|||||||rs5762474||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28092307C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||12/22|XM_017028673.3:c.3842+1773G>A|||||||rs5762474||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28092307C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||12/21|XM_047441214.1:c.3854+1773G>A|||||||rs5762474||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28092307C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||12/22|XM_047441215.1:c.3626+1773G>A|||||||rs5762474||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28092307C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-7|41|3|-26;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6093;gnomADv4_1_AC_joint_XX=2939;gnomADv4_1_AC_joint_XY=3154;gnomADv4_1_AF_grpmax_joint=0.131711;gnomADv4_1_AF_joint=0.0400323;gnomADv4_1_AF_joint_XX=0.0377831;gnomADv4_1_AF_joint_XY=0.0423834;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152202;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=205;gnomADv4_1_nhomalt_joint_XX=86;gnomADv4_1_nhomalt_joint_XY=119;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28096163 chr22_28096163_C_G C G 25 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=25;CADD_PHREDscore=0.526;CADD_Rawscore=-0.180446;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||11/22|ENST00000397906.7:c.3766+27G>C|||||||rs2294969||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28096163C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000442232|protein_coding||||||||||rs2294969|2028|-1|cds_start_NF|HGNC|HGNC:29179|2||ENSP00000388788||B0QYP4.83|UPI000161102C|||Ensembl||C|C||||chr22:g.28096163C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||9/20|ENST00000612946.4:c.3385+27G>C|||||||rs2294969||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28096163C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||11/22|NM_001145418.2:c.3766+27G>C|||||||rs2294969||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28096163C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||11/21|NM_001393403.1:c.3766+27G>C|||||||rs2294969||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28096163C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||10/21|NM_001393404.1:c.3412+27G>C|||||||rs2294969||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28096163C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||10/20|NM_001393405.1:c.3412+27G>C|||||||rs2294969||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28096163C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||11/22|XM_011530018.4:c.3688+27G>C|||||||rs2294969||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28096163C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||11/14|XM_011530019.3:c.3766+27G>C|||||||rs2294969||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28096163C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||11/13|XM_011530020.2:c.3766+27G>C|||||||rs2294969||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28096163C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||11/14|XM_011530021.4:c.3766+27G>C|||||||rs2294969||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28096163C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||11/22|XM_017028673.3:c.3676+27G>C|||||||rs2294969||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28096163C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||11/21|XM_047441214.1:c.3688+27G>C|||||||rs2294969||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28096163C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||11/22|XM_047441215.1:c.3460+27G>C|||||||rs2294969||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28096163C>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.02|27|-50|-49|27;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000442232,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=83892;gnomADv4_1_AC_joint_XX=40912;gnomADv4_1_AC_joint_XY=42980;gnomADv4_1_AF_grpmax_joint=0.14502;gnomADv4_1_AF_joint=0.055332;gnomADv4_1_AF_joint_XX=0.0528526;gnomADv4_1_AF_joint_XY=0.0579183;gnomADv4_1_AN_grpmax_joint=77196;gnomADv4_1_AN_joint=1516158;gnomADv4_1_AN_joint_XX=774078;gnomADv4_1_AN_joint_XY=742080;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3080;gnomADv4_1_nhomalt_joint_XX=1346;gnomADv4_1_nhomalt_joint_XY=1734;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28101782 chr22_28101782_TAA_T TAA T 10 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=10;CADDIndel_PHREDscore=0.272;CADDIndel_Rawscore=-0.347304;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||8/22|ENST00000397906.7:c.3308-504_3308-503del|||||||rs11459818||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||AA|AA||||chr22:g.28101811_28101812del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||6/20|ENST00000612946.4:c.2927-504_2927-503del|||||||rs11459818||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||AA|AA||||chr22:g.28101811_28101812del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||8/22|NM_001145418.2:c.3308-504_3308-503del|||||||rs11459818||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||AA|AA||||chr22:g.28101811_28101812del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||8/21|NM_001393403.1:c.3308-504_3308-503del|||||||rs11459818||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||AA|AA||||chr22:g.28101811_28101812del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||7/21|NM_001393404.1:c.2954-504_2954-503del|||||||rs11459818||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||AA|AA||||chr22:g.28101811_28101812del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||7/20|NM_001393405.1:c.2954-504_2954-503del|||||||rs11459818||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||AA|AA||||chr22:g.28101811_28101812del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||8/22|XM_011530018.4:c.3230-504_3230-503del|||||||rs11459818||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||AA|AA||||chr22:g.28101811_28101812del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||8/14|XM_011530019.3:c.3308-504_3308-503del|||||||rs11459818||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||AA|AA||||chr22:g.28101811_28101812del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||8/13|XM_011530020.2:c.3308-504_3308-503del|||||||rs11459818||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||AA|AA||||chr22:g.28101811_28101812del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||8/14|XM_011530021.4:c.3308-504_3308-503del|||||||rs11459818||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||AA|AA||||chr22:g.28101811_28101812del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||8/22|XM_017028673.3:c.3218-504_3218-503del|||||||rs11459818||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||AA|AA||||chr22:g.28101811_28101812del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||8/21|XM_047441214.1:c.3230-504_3230-503del|||||||rs11459818||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||AA|AA||||chr22:g.28101811_28101812del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||8/22|XM_047441215.1:c.3002-504_3002-503del|||||||rs11459818||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||AA|AA||||chr22:g.28101811_28101812del|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-5|-22|46|41;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21120;gnomADv4_1_AC_joint_XX=11958;gnomADv4_1_AC_joint_XY=9162;gnomADv4_1_AF_grpmax_joint=0.446134;gnomADv4_1_AF_joint=0.411632;gnomADv4_1_AF_joint_XX=0.421027;gnomADv4_1_AF_joint_XY=0.399983;gnomADv4_1_AN_grpmax_joint=10192;gnomADv4_1_AN_joint=51308;gnomADv4_1_AN_joint_XX=28402;gnomADv4_1_AN_joint_XY=22906;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2720;gnomADv4_1_nhomalt_joint_XX=1516;gnomADv4_1_nhomalt_joint_XY=1204;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28104293 chr22_28104293_T_C T C 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.04;CADD_Rawscore=-0.863961;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||8/22|ENST00000397906.7:c.3307+986A>G|||||||rs5762478||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28104293T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||6/20|ENST00000612946.4:c.2926+986A>G|||||||rs5762478||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28104293T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||8/22|NM_001145418.2:c.3307+986A>G|||||||rs5762478||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28104293T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||8/21|NM_001393403.1:c.3307+986A>G|||||||rs5762478||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28104293T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||7/21|NM_001393404.1:c.2953+986A>G|||||||rs5762478||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28104293T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||7/20|NM_001393405.1:c.2953+986A>G|||||||rs5762478||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28104293T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||8/22|XM_011530018.4:c.3229+986A>G|||||||rs5762478||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28104293T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||8/14|XM_011530019.3:c.3307+986A>G|||||||rs5762478||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28104293T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||8/13|XM_011530020.2:c.3307+986A>G|||||||rs5762478||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28104293T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||8/14|XM_011530021.4:c.3307+986A>G|||||||rs5762478||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28104293T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||8/22|XM_017028673.3:c.3217+986A>G|||||||rs5762478||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28104293T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||8/21|XM_047441214.1:c.3229+986A>G|||||||rs5762478||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28104293T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||8/22|XM_047441215.1:c.3001+986A>G|||||||rs5762478||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28104293T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|46|-19|-8|-4;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9197;gnomADv4_1_AC_joint_XX=4574;gnomADv4_1_AC_joint_XY=4623;gnomADv4_1_AF_grpmax_joint=0.154579;gnomADv4_1_AF_joint=0.0604112;gnomADv4_1_AF_joint_XX=0.0587978;gnomADv4_1_AF_joint_XY=0.062097;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152240;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=352;gnomADv4_1_nhomalt_joint_XX=167;gnomADv4_1_nhomalt_joint_XY=185;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28108768 chr22_28108768_C_T C T 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=9.063;CADD_Rawscore=0.880166;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1442-365G>A|||||||rs11912165||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28108768C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1061-365G>A|||||||rs11912165||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28108768C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1442-365G>A|||||||rs11912165||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28108768C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1442-365G>A|||||||rs11912165||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28108768C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1088-365G>A|||||||rs11912165||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28108768C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1088-365G>A|||||||rs11912165||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28108768C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1364-365G>A|||||||rs11912165||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28108768C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1442-365G>A|||||||rs11912165||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28108768C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1442-365G>A|||||||rs11912165||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28108768C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1442-365G>A|||||||rs11912165||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28108768C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1352-365G>A|||||||rs11912165||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28108768C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1364-365G>A|||||||rs11912165||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28108768C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1136-365G>A|||||||rs11912165||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28108768C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|23|49|24;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5681;gnomADv4_1_AC_joint_XX=2738;gnomADv4_1_AC_joint_XY=2943;gnomADv4_1_AF_grpmax_joint=0.133114;gnomADv4_1_AF_joint=0.037319;gnomADv4_1_AF_joint_XX=0.0351892;gnomADv4_1_AF_joint_XY=0.0395458;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152228;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=185;gnomADv4_1_nhomalt_joint_XX=76;gnomADv4_1_nhomalt_joint_XY=109;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28114249 chr22_28114249_T_C T C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.695;CADD_Rawscore=0.120179;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1442-5846A>G|||||||rs5762481||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28114249T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1061-5846A>G|||||||rs5762481||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28114249T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1442-5846A>G|||||||rs5762481||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28114249T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1442-5846A>G|||||||rs5762481||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28114249T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1088-5846A>G|||||||rs5762481||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28114249T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1088-5846A>G|||||||rs5762481||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28114249T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1364-5846A>G|||||||rs5762481||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28114249T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1442-5846A>G|||||||rs5762481||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28114249T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1442-5846A>G|||||||rs5762481||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28114249T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1442-5846A>G|||||||rs5762481||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28114249T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1352-5846A>G|||||||rs5762481||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28114249T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1364-5846A>G|||||||rs5762481||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28114249T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1136-5846A>G|||||||rs5762481||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28114249T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|46|-5|46|-48;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24948;gnomADv4_1_AC_joint_XX=12658;gnomADv4_1_AC_joint_XY=12290;gnomADv4_1_AF_grpmax_joint=0.349228;gnomADv4_1_AF_joint=0.163871;gnomADv4_1_AF_joint_XX=0.162678;gnomADv4_1_AF_joint_XY=0.165117;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152242;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2486;gnomADv4_1_nhomalt_joint_XX=1215;gnomADv4_1_nhomalt_joint_XY=1271;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28114579 chr22_28114579_AT_A AT A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.442;CADDIndel_Rawscore=-0.224222;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1442-6177del|||||||rs68190158||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28114597del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1061-6177del|||||||rs68190158||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28114597del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1442-6177del|||||||rs68190158||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28114597del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1442-6177del|||||||rs68190158||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28114597del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1088-6177del|||||||rs68190158||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28114597del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1088-6177del|||||||rs68190158||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28114597del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1364-6177del|||||||rs68190158||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28114597del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1442-6177del|||||||rs68190158||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28114597del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1442-6177del|||||||rs68190158||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28114597del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1442-6177del|||||||rs68190158||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28114597del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1352-6177del|||||||rs68190158||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28114597del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1364-6177del|||||||rs68190158||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28114597del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1136-6177del|||||||rs68190158||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28114597del|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|46|42|-2|42;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16646;gnomADv4_1_AC_joint_XX=8532;gnomADv4_1_AC_joint_XY=8114;gnomADv4_1_AF_grpmax_joint=0.140482;gnomADv4_1_AF_joint=0.119944;gnomADv4_1_AF_joint_XX=0.118777;gnomADv4_1_AF_joint_XY=0.121195;gnomADv4_1_AN_grpmax_joint=63880;gnomADv4_1_AN_joint=138782;gnomADv4_1_AN_joint_XX=71832;gnomADv4_1_AN_joint_XY=66950;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=848;gnomADv4_1_nhomalt_joint_XX=439;gnomADv4_1_nhomalt_joint_XY=409;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28115155 chr22_28115155_CTTTT_C CTTTT C 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.79;CADDIndel_Rawscore=-0.078256;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1442-6756_1442-6753del|||||||rs565113285||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||TTTT|TTTT||||chr22:g.28115159_28115162del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1061-6756_1061-6753del|||||||rs565113285||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||TTTT|TTTT||||chr22:g.28115159_28115162del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1442-6756_1442-6753del|||||||rs565113285||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||TTTT|TTTT||||chr22:g.28115159_28115162del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1442-6756_1442-6753del|||||||rs565113285||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||TTTT|TTTT||||chr22:g.28115159_28115162del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1088-6756_1088-6753del|||||||rs565113285||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||TTTT|TTTT||||chr22:g.28115159_28115162del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1088-6756_1088-6753del|||||||rs565113285||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||TTTT|TTTT||||chr22:g.28115159_28115162del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1364-6756_1364-6753del|||||||rs565113285||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||TTTT|TTTT||||chr22:g.28115159_28115162del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1442-6756_1442-6753del|||||||rs565113285||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||TTTT|TTTT||||chr22:g.28115159_28115162del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1442-6756_1442-6753del|||||||rs565113285||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||TTTT|TTTT||||chr22:g.28115159_28115162del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1442-6756_1442-6753del|||||||rs565113285||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||TTTT|TTTT||||chr22:g.28115159_28115162del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1352-6756_1352-6753del|||||||rs565113285||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||TTTT|TTTT||||chr22:g.28115159_28115162del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1364-6756_1364-6753del|||||||rs565113285||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||TTTT|TTTT||||chr22:g.28115159_28115162del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1136-6756_1136-6753del|||||||rs565113285||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||TTTT|TTTT||||chr22:g.28115159_28115162del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|32|-43|34|32;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2109;gnomADv4_1_AC_joint_XX=1168;gnomADv4_1_AC_joint_XY=941;gnomADv4_1_AF_grpmax_joint=0.0510204;gnomADv4_1_AF_joint=0.0138677;gnomADv4_1_AF_joint_XX=0.015026;gnomADv4_1_AF_joint_XY=0.0126567;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=36;gnomADv4_1_nhomalt_joint_XX=25;gnomADv4_1_nhomalt_joint_XY=11;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28115420 chr22_28115420_C_A C A 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=1.095;CADD_Rawscore=0.005666;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1442-7017G>T|||||||rs75130608||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28115420C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1061-7017G>T|||||||rs75130608||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28115420C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1442-7017G>T|||||||rs75130608||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28115420C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1442-7017G>T|||||||rs75130608||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28115420C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1088-7017G>T|||||||rs75130608||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28115420C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1088-7017G>T|||||||rs75130608||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28115420C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1364-7017G>T|||||||rs75130608||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28115420C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1442-7017G>T|||||||rs75130608||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28115420C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1442-7017G>T|||||||rs75130608||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28115420C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1442-7017G>T|||||||rs75130608||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28115420C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1352-7017G>T|||||||rs75130608||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28115420C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1364-7017G>T|||||||rs75130608||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28115420C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1136-7017G>T|||||||rs75130608||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28115420C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-17|32|-4|5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=887;gnomADv4_1_AC_joint_XX=473;gnomADv4_1_AC_joint_XY=414;gnomADv4_1_AF_grpmax_joint=0.0136054;gnomADv4_1_AF_joint=0.00582319;gnomADv4_1_AF_joint_XX=0.00607719;gnomADv4_1_AF_joint_XY=0.00555779;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152322;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74490;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=14;gnomADv4_1_nhomalt_joint_XX=5;gnomADv4_1_nhomalt_joint_XY=9;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28117617 chr22_28117617_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=7.006;CADD_Rawscore=0.658791;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1442-9214T>C|||||||rs2038286||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28117617A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1061-9214T>C|||||||rs2038286||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28117617A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1442-9214T>C|||||||rs2038286||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28117617A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1442-9214T>C|||||||rs2038286||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28117617A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1088-9214T>C|||||||rs2038286||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28117617A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1088-9214T>C|||||||rs2038286||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28117617A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1364-9214T>C|||||||rs2038286||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28117617A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1442-9214T>C|||||||rs2038286||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28117617A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1442-9214T>C|||||||rs2038286||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28117617A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1442-9214T>C|||||||rs2038286||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28117617A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1352-9214T>C|||||||rs2038286||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28117617A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1364-9214T>C|||||||rs2038286||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28117617A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1136-9214T>C|||||||rs2038286||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28117617A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|30|-30|47|-41;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149284;gnomADv4_1_AC_joint_XX=76292;gnomADv4_1_AC_joint_XY=72992;gnomADv4_1_AF_grpmax_joint=0.996716;gnomADv4_1_AF_joint=0.980107;gnomADv4_1_AF_joint_XX=0.979987;gnomADv4_1_AF_joint_XY=0.980232;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152314;gnomADv4_1_AN_joint_XX=77850;gnomADv4_1_AN_joint_XY=74464;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73156;gnomADv4_1_nhomalt_joint_XX=37380;gnomADv4_1_nhomalt_joint_XY=35776;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28117998 chr22_28117998_C_A C A 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.517;CADD_Rawscore=-0.184907;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1442-9595G>T|||||||rs2038287||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28117998C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1061-9595G>T|||||||rs2038287||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28117998C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1442-9595G>T|||||||rs2038287||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28117998C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1442-9595G>T|||||||rs2038287||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28117998C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1088-9595G>T|||||||rs2038287||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28117998C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1088-9595G>T|||||||rs2038287||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28117998C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1364-9595G>T|||||||rs2038287||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28117998C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1442-9595G>T|||||||rs2038287||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28117998C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1442-9595G>T|||||||rs2038287||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28117998C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1442-9595G>T|||||||rs2038287||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28117998C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1352-9595G>T|||||||rs2038287||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28117998C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1364-9595G>T|||||||rs2038287||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28117998C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1136-9595G>T|||||||rs2038287||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28117998C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|2|1|-8|1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=128391;gnomADv4_1_AC_joint_XX=65617;gnomADv4_1_AC_joint_XY=62774;gnomADv4_1_AF_grpmax_joint=0.992486;gnomADv4_1_AF_joint=0.843701;gnomADv4_1_AF_joint_XX=0.843233;gnomADv4_1_AF_joint_XY=0.84419;gnomADv4_1_AN_grpmax_joint=5190;gnomADv4_1_AN_joint=152176;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=54248;gnomADv4_1_nhomalt_joint_XX=27724;gnomADv4_1_nhomalt_joint_XY=26524;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28118185 chr22_28118185_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.736;CADD_Rawscore=-0.096129;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1442-9782T>C|||||||rs2881204||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28118185A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1061-9782T>C|||||||rs2881204||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28118185A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1442-9782T>C|||||||rs2881204||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28118185A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1442-9782T>C|||||||rs2881204||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28118185A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1088-9782T>C|||||||rs2881204||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28118185A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1088-9782T>C|||||||rs2881204||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28118185A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1364-9782T>C|||||||rs2881204||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28118185A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1442-9782T>C|||||||rs2881204||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28118185A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1442-9782T>C|||||||rs2881204||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28118185A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1442-9782T>C|||||||rs2881204||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28118185A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1352-9782T>C|||||||rs2881204||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28118185A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1364-9782T>C|||||||rs2881204||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28118185A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1136-9782T>C|||||||rs2881204||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28118185A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-47|46|-5|-46;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149223;gnomADv4_1_AC_joint_XX=76259;gnomADv4_1_AC_joint_XY=72964;gnomADv4_1_AF_grpmax_joint=0.996707;gnomADv4_1_AF_joint=0.980067;gnomADv4_1_AF_joint_XX=0.979966;gnomADv4_1_AF_joint_XY=0.980172;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152258;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73124;gnomADv4_1_nhomalt_joint_XX=37363;gnomADv4_1_nhomalt_joint_XY=35761;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28120640 chr22_28120640_T_A T A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.814;CADD_Rawscore=0.348726;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1442-12237A>T|||||||rs5752697||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28120640T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1061-12237A>T|||||||rs5752697||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28120640T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1442-12237A>T|||||||rs5752697||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28120640T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1442-12237A>T|||||||rs5752697||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28120640T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1088-12237A>T|||||||rs5752697||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28120640T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1088-12237A>T|||||||rs5752697||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28120640T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1364-12237A>T|||||||rs5752697||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28120640T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1442-12237A>T|||||||rs5752697||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28120640T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1442-12237A>T|||||||rs5752697||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28120640T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1442-12237A>T|||||||rs5752697||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28120640T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1352-12237A>T|||||||rs5752697||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28120640T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1364-12237A>T|||||||rs5752697||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28120640T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1136-12237A>T|||||||rs5752697||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28120640T>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-22|34|47|-50;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149333;gnomADv4_1_AC_joint_XX=76327;gnomADv4_1_AC_joint_XY=73006;gnomADv4_1_AF_grpmax_joint=0.992537;gnomADv4_1_AF_joint=0.980223;gnomADv4_1_AF_joint_XX=0.980361;gnomADv4_1_AF_joint_XY=0.980078;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152346;gnomADv4_1_AN_joint_XX=77856;gnomADv4_1_AN_joint_XY=74490;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=73192;gnomADv4_1_nhomalt_joint_XX=37410;gnomADv4_1_nhomalt_joint_XY=35782;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28123436 chr22_28123436_T_C T C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.601;CADD_Rawscore=-0.147192;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1442-15033A>G|||||||rs1969681||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28123436T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1061-15033A>G|||||||rs1969681||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28123436T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1442-15033A>G|||||||rs1969681||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28123436T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1442-15033A>G|||||||rs1969681||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28123436T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1088-15033A>G|||||||rs1969681||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28123436T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1088-15033A>G|||||||rs1969681||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28123436T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1364-15033A>G|||||||rs1969681||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28123436T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1442-15033A>G|||||||rs1969681||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28123436T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1442-15033A>G|||||||rs1969681||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28123436T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1442-15033A>G|||||||rs1969681||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28123436T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1352-15033A>G|||||||rs1969681||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28123436T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1364-15033A>G|||||||rs1969681||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28123436T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1136-15033A>G|||||||rs1969681||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28123436T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-44|-18|-36|20;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24948;gnomADv4_1_AC_joint_XX=12646;gnomADv4_1_AC_joint_XY=12302;gnomADv4_1_AF_grpmax_joint=0.351954;gnomADv4_1_AF_joint=0.164227;gnomADv4_1_AF_joint_XX=0.162867;gnomADv4_1_AF_joint_XY=0.165648;gnomADv4_1_AN_grpmax_joint=5066;gnomADv4_1_AN_joint=151912;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2563;gnomADv4_1_nhomalt_joint_XX=1252;gnomADv4_1_nhomalt_joint_XY=1311;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28124168 chr22_28124168_T_TTTG T TTTG 43 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.383;CADDIndel_Rawscore=-0.259997;CSQ=TTG|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1442-15768_1442-15766dup|||||||rs71316831||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28124198_28124200dup|||||||||||||,TTG|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1061-15768_1061-15766dup|||||||rs71316831||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28124198_28124200dup|||||||||||||,TTG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1442-15768_1442-15766dup|||||||rs71316831||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28124198_28124200dup|||||||||||||,TTG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1442-15768_1442-15766dup|||||||rs71316831||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28124198_28124200dup|||||||||||||,TTG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1088-15768_1088-15766dup|||||||rs71316831||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28124198_28124200dup|||||||||||||,TTG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1088-15768_1088-15766dup|||||||rs71316831||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28124198_28124200dup|||||||||||||,TTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1364-15768_1364-15766dup|||||||rs71316831||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28124198_28124200dup|||||||||||||,TTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1442-15768_1442-15766dup|||||||rs71316831||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28124198_28124200dup|||||||||||||,TTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1442-15768_1442-15766dup|||||||rs71316831||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28124198_28124200dup|||||||||||||,TTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1442-15768_1442-15766dup|||||||rs71316831||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28124198_28124200dup|||||||||||||,TTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1352-15768_1352-15766dup|||||||rs71316831||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28124198_28124200dup|||||||||||||,TTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1364-15768_1364-15766dup|||||||rs71316831||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28124198_28124200dup|||||||||||||,TTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1136-15768_1136-15766dup|||||||rs71316831||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28124198_28124200dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTG,TTG,TTG,TTG,TTG,TTG,TTG,TTG,TTG,TTG,TTG,TTG,TTG;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=106282;gnomADv4_1_AC_joint_XX=54677;gnomADv4_1_AC_joint_XY=51605;gnomADv4_1_AF_grpmax_joint=0.840136;gnomADv4_1_AF_joint=0.718054;gnomADv4_1_AF_joint_XX=0.719889;gnomADv4_1_AF_joint_XY=0.716119;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=148014;gnomADv4_1_AN_joint_XX=75952;gnomADv4_1_AN_joint_XY=72062;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=38722;gnomADv4_1_nhomalt_joint_XX=19969;gnomADv4_1_nhomalt_joint_XY=18753;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28127894 chr22_28127894_A_AT A AT 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=0.777;CADDIndel_Rawscore=-0.082412;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1442-19492dup|||||||rs35611269||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28127911dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1061-19492dup|||||||rs35611269||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28127911dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1442-19492dup|||||||rs35611269||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28127911dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1442-19492dup|||||||rs35611269||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28127911dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1088-19492dup|||||||rs35611269||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28127911dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1088-19492dup|||||||rs35611269||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28127911dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1364-19492dup|||||||rs35611269||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28127911dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1442-19492dup|||||||rs35611269||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28127911dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1442-19492dup|||||||rs35611269||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28127911dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1442-19492dup|||||||rs35611269||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28127911dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1352-19492dup|||||||rs35611269||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28127911dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1364-19492dup|||||||rs35611269||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28127911dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1136-19492dup|||||||rs35611269||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28127911dup|||||||||||||;SpliceAI=AT|TTC28|0.00|0.00|0.00|0.00|-30|-4|18|-7;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68312;gnomADv4_1_AC_joint_XX=35172;gnomADv4_1_AC_joint_XY=33140;gnomADv4_1_AF_grpmax_joint=0.606142;gnomADv4_1_AF_joint=0.496396;gnomADv4_1_AF_joint_XX=0.491298;gnomADv4_1_AF_joint_XY=0.501923;gnomADv4_1_AN_grpmax_joint=37120;gnomADv4_1_AN_joint=137616;gnomADv4_1_AN_joint_XX=71590;gnomADv4_1_AN_joint_XY=66026;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17076;gnomADv4_1_nhomalt_joint_XX=8703;gnomADv4_1_nhomalt_joint_XY=8373;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28135195 chr22_28135195_C_A C A 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=19;CADD_PHREDscore=1.096;CADD_Rawscore=0.00604;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1442-26792G>T|||||||rs1943171973||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28135195C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1061-26792G>T|||||||rs1943171973||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28135195C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1442-26792G>T|||||||rs1943171973||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28135195C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1442-26792G>T|||||||rs1943171973||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28135195C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1088-26792G>T|||||||rs1943171973||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28135195C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1088-26792G>T|||||||rs1943171973||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28135195C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1364-26792G>T|||||||rs1943171973||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28135195C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1442-26792G>T|||||||rs1943171973||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28135195C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1442-26792G>T|||||||rs1943171973||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28135195C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1442-26792G>T|||||||rs1943171973||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28135195C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1352-26792G>T|||||||rs1943171973||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28135195C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1364-26792G>T|||||||rs1943171973||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28135195C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1136-26792G>T|||||||rs1943171973||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28135195C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-8|43|11|-39;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28138017 chr22_28138017_G_T G T 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.019;CADD_Rawscore=-1.06713;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+25075C>A|||||||rs77919927||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28138017G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+25075C>A|||||||rs77919927||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28138017G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+25075C>A|||||||rs77919927||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28138017G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+25075C>A|||||||rs77919927||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28138017G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+25075C>A|||||||rs77919927||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28138017G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+25075C>A|||||||rs77919927||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28138017G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+25075C>A|||||||rs77919927||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28138017G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+25075C>A|||||||rs77919927||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28138017G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+25075C>A|||||||rs77919927||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28138017G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+25075C>A|||||||rs77919927||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28138017G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+25075C>A|||||||rs77919927||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28138017G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+25075C>A|||||||rs77919927||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28138017G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+25075C>A|||||||rs77919927||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28138017G>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|-30|1|-30;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10840;gnomADv4_1_AC_joint_XX=5451;gnomADv4_1_AC_joint_XY=5389;gnomADv4_1_AF_grpmax_joint=0.213643;gnomADv4_1_AF_joint=0.0719253;gnomADv4_1_AF_joint_XX=0.0706802;gnomADv4_1_AF_joint_XY=0.0732301;gnomADv4_1_AN_grpmax_joint=5116;gnomADv4_1_AN_joint=150712;gnomADv4_1_AN_joint_XX=77122;gnomADv4_1_AN_joint_XY=73590;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=565;gnomADv4_1_nhomalt_joint_XX=277;gnomADv4_1_nhomalt_joint_XY=288;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28139018 chr22_28139018_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.182;CADD_Rawscore=-0.451117;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+24074C>T|||||||rs528087562||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28139018G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+24074C>T|||||||rs528087562||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28139018G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+24074C>T|||||||rs528087562||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28139018G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+24074C>T|||||||rs528087562||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28139018G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+24074C>T|||||||rs528087562||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28139018G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+24074C>T|||||||rs528087562||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28139018G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+24074C>T|||||||rs528087562||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28139018G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+24074C>T|||||||rs528087562||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28139018G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+24074C>T|||||||rs528087562||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28139018G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+24074C>T|||||||rs528087562||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28139018G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+24074C>T|||||||rs528087562||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28139018G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+24074C>T|||||||rs528087562||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28139018G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+24074C>T|||||||rs528087562||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28139018G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-26|26|-3|-17;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13;gnomADv4_1_AC_joint_XX=9;gnomADv4_1_AC_joint_XY=4;gnomADv4_1_AF_grpmax_joint=0.000117754;gnomADv4_1_AF_joint=8.56853e-05;gnomADv4_1_AF_joint_XX=0.000115893;gnomADv4_1_AF_joint_XY=5.40103e-05;gnomADv4_1_AN_grpmax_joint=67938;gnomADv4_1_AN_joint=151718;gnomADv4_1_AN_joint_XX=77658;gnomADv4_1_AN_joint_XY=74060;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28140934 chr22_28140934_AGAG_A AGAG A 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=7.9;CADDIndel_Rawscore=0.75769;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+22155_1441+22157del|||||||rs57274885||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||GAG|GAG||||chr22:g.28140958_28140960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+22155_1060+22157del|||||||rs57274885||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||GAG|GAG||||chr22:g.28140958_28140960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+22155_1441+22157del|||||||rs57274885||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||GAG|GAG||||chr22:g.28140958_28140960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+22155_1441+22157del|||||||rs57274885||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||GAG|GAG||||chr22:g.28140958_28140960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+22155_1087+22157del|||||||rs57274885||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||GAG|GAG||||chr22:g.28140958_28140960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+22155_1087+22157del|||||||rs57274885||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||GAG|GAG||||chr22:g.28140958_28140960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+22155_1363+22157del|||||||rs57274885||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||GAG|GAG||||chr22:g.28140958_28140960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+22155_1441+22157del|||||||rs57274885||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||GAG|GAG||||chr22:g.28140958_28140960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+22155_1441+22157del|||||||rs57274885||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||GAG|GAG||||chr22:g.28140958_28140960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+22155_1441+22157del|||||||rs57274885||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||GAG|GAG||||chr22:g.28140958_28140960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+22155_1351+22157del|||||||rs57274885||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||GAG|GAG||||chr22:g.28140958_28140960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+22155_1363+22157del|||||||rs57274885||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||GAG|GAG||||chr22:g.28140958_28140960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+22155_1135+22157del|||||||rs57274885||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||GAG|GAG||||chr22:g.28140958_28140960del|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-27|-17|-49|-16;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73404;gnomADv4_1_AC_joint_XX=37979;gnomADv4_1_AC_joint_XY=35425;gnomADv4_1_AF_grpmax_joint=0.540254;gnomADv4_1_AF_joint=0.486577;gnomADv4_1_AF_joint_XX=0.491574;gnomADv4_1_AF_joint_XY=0.481331;gnomADv4_1_AN_grpmax_joint=67670;gnomADv4_1_AN_joint=150858;gnomADv4_1_AN_joint_XX=77260;gnomADv4_1_AN_joint_XY=73598;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=18139;gnomADv4_1_nhomalt_joint_XX=9486;gnomADv4_1_nhomalt_joint_XY=8653;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28141127 chr22_28141127_C_T C T 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.659;CADD_Rawscore=0.114565;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+21965G>A|||||||rs5762492||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28141127C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+21965G>A|||||||rs5762492||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28141127C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+21965G>A|||||||rs5762492||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28141127C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+21965G>A|||||||rs5762492||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28141127C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+21965G>A|||||||rs5762492||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28141127C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+21965G>A|||||||rs5762492||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28141127C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+21965G>A|||||||rs5762492||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28141127C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+21965G>A|||||||rs5762492||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28141127C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+21965G>A|||||||rs5762492||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28141127C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+21965G>A|||||||rs5762492||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28141127C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+21965G>A|||||||rs5762492||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28141127C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+21965G>A|||||||rs5762492||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28141127C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+21965G>A|||||||rs5762492||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28141127C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|42|-7|42|-7;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5918;gnomADv4_1_AC_joint_XX=2864;gnomADv4_1_AC_joint_XY=3054;gnomADv4_1_AF_grpmax_joint=0.13229;gnomADv4_1_AF_joint=0.0388621;gnomADv4_1_AF_joint_XX=0.0367972;gnomADv4_1_AF_joint_XY=0.0410208;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152282;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=192;gnomADv4_1_nhomalt_joint_XX=79;gnomADv4_1_nhomalt_joint_XY=113;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28142004 chr22_28142004_C_T C T 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.337;CADD_Rawscore=-0.29257;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+21088G>A|||||||rs135640||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28142004C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+21088G>A|||||||rs135640||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28142004C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+21088G>A|||||||rs135640||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28142004C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+21088G>A|||||||rs135640||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28142004C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+21088G>A|||||||rs135640||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28142004C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+21088G>A|||||||rs135640||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28142004C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+21088G>A|||||||rs135640||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28142004C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+21088G>A|||||||rs135640||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28142004C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+21088G>A|||||||rs135640||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28142004C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+21088G>A|||||||rs135640||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28142004C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+21088G>A|||||||rs135640||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28142004C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+21088G>A|||||||rs135640||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28142004C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+21088G>A|||||||rs135640||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28142004C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4RDR|enhancer||||||||||rs135640|||||||||||||||||||||chr22:g.28142004C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-7|-1|16|-1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,ENSR22_C4RDR;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=117799;gnomADv4_1_AC_joint_XX=60515;gnomADv4_1_AC_joint_XY=57284;gnomADv4_1_AF_grpmax_joint=0.908292;gnomADv4_1_AF_joint=0.774189;gnomADv4_1_AF_joint_XX=0.778048;gnomADv4_1_AF_joint_XY=0.770153;gnomADv4_1_AN_grpmax_joint=41556;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=46317;gnomADv4_1_nhomalt_joint_XX=23853;gnomADv4_1_nhomalt_joint_XY=22464;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28144504 chr22_28144504_A_G A G 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=16.56;CADD_Rawscore=1.95892;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+18588T>C|||||||rs9608667||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28144504A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+18588T>C|||||||rs9608667||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28144504A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+18588T>C|||||||rs9608667||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28144504A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+18588T>C|||||||rs9608667||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28144504A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+18588T>C|||||||rs9608667||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28144504A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+18588T>C|||||||rs9608667||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28144504A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+18588T>C|||||||rs9608667||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28144504A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+18588T>C|||||||rs9608667||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28144504A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+18588T>C|||||||rs9608667||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28144504A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+18588T>C|||||||rs9608667||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28144504A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+18588T>C|||||||rs9608667||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28144504A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+18588T>C|||||||rs9608667||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28144504A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+18588T>C|||||||rs9608667||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28144504A>G|||1||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|39|-6|-49|-6;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49849;gnomADv4_1_AC_joint_XX=25433;gnomADv4_1_AC_joint_XY=24416;gnomADv4_1_AF_grpmax_joint=0.517206;gnomADv4_1_AF_joint=0.327433;gnomADv4_1_AF_joint_XX=0.326886;gnomADv4_1_AF_joint_XY=0.328005;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152242;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=9502;gnomADv4_1_nhomalt_joint_XX=4907;gnomADv4_1_nhomalt_joint_XY=4595;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28145087 chr22_28145087_T_G T G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=5.814;CADD_Rawscore=0.534531;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+18005A>C|||||||rs135646||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28145087T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+18005A>C|||||||rs135646||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28145087T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+18005A>C|||||||rs135646||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28145087T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+18005A>C|||||||rs135646||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28145087T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+18005A>C|||||||rs135646||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28145087T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+18005A>C|||||||rs135646||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28145087T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+18005A>C|||||||rs135646||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28145087T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+18005A>C|||||||rs135646||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28145087T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+18005A>C|||||||rs135646||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28145087T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+18005A>C|||||||rs135646||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28145087T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+18005A>C|||||||rs135646||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28145087T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+18005A>C|||||||rs135646||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28145087T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+18005A>C|||||||rs135646||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28145087T>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|24|-33|24|25;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=142925;gnomADv4_1_AC_joint_XX=73107;gnomADv4_1_AC_joint_XY=69818;gnomADv4_1_AF_grpmax_joint=0.966111;gnomADv4_1_AF_joint=0.938962;gnomADv4_1_AF_joint_XX=0.939582;gnomADv4_1_AF_joint_XY=0.938313;gnomADv4_1_AN_grpmax_joint=41548;gnomADv4_1_AN_joint=152216;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=67184;gnomADv4_1_nhomalt_joint_XX=34379;gnomADv4_1_nhomalt_joint_XY=32805;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28145362 chr22_28145362_G_A G A 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.845;CADD_Rawscore=-0.0612;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+17730C>T|||||||rs2064360||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28145362G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+17730C>T|||||||rs2064360||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28145362G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+17730C>T|||||||rs2064360||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28145362G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+17730C>T|||||||rs2064360||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28145362G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+17730C>T|||||||rs2064360||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28145362G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+17730C>T|||||||rs2064360||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28145362G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+17730C>T|||||||rs2064360||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28145362G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+17730C>T|||||||rs2064360||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28145362G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+17730C>T|||||||rs2064360||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28145362G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+17730C>T|||||||rs2064360||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28145362G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+17730C>T|||||||rs2064360||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28145362G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+17730C>T|||||||rs2064360||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28145362G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+17730C>T|||||||rs2064360||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28145362G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|37|21|49|-16;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7107;gnomADv4_1_AC_joint_XX=3497;gnomADv4_1_AC_joint_XY=3610;gnomADv4_1_AF_grpmax_joint=0.136962;gnomADv4_1_AF_joint=0.0466945;gnomADv4_1_AF_joint_XX=0.044944;gnomADv4_1_AF_joint_XY=0.0485254;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152202;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=230;gnomADv4_1_nhomalt_joint_XX=100;gnomADv4_1_nhomalt_joint_XY=130;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28149276 chr22_28149276_A_C A C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.534;CADD_Rawscore=0.094077;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+13816T>G|||||||rs9613570||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28149276A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+13816T>G|||||||rs9613570||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28149276A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+13816T>G|||||||rs9613570||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28149276A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+13816T>G|||||||rs9613570||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28149276A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+13816T>G|||||||rs9613570||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28149276A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+13816T>G|||||||rs9613570||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28149276A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+13816T>G|||||||rs9613570||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28149276A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+13816T>G|||||||rs9613570||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28149276A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+13816T>G|||||||rs9613570||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28149276A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+13816T>G|||||||rs9613570||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28149276A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+13816T>G|||||||rs9613570||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28149276A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+13816T>G|||||||rs9613570||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28149276A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+13816T>G|||||||rs9613570||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28149276A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|37|5|5|-28;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41536;gnomADv4_1_AC_joint_XX=21296;gnomADv4_1_AC_joint_XY=20240;gnomADv4_1_AF_grpmax_joint=0.408163;gnomADv4_1_AF_joint=0.272987;gnomADv4_1_AF_joint_XX=0.273854;gnomADv4_1_AF_joint_XY=0.27208;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6922;gnomADv4_1_nhomalt_joint_XX=3620;gnomADv4_1_nhomalt_joint_XY=3302;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28149341 chr22_28149341_T_C T C 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=3.105;CADD_Rawscore=0.284445;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+13751A>G|||||||rs9608668||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28149341T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+13751A>G|||||||rs9608668||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28149341T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+13751A>G|||||||rs9608668||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28149341T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+13751A>G|||||||rs9608668||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28149341T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+13751A>G|||||||rs9608668||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28149341T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+13751A>G|||||||rs9608668||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28149341T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+13751A>G|||||||rs9608668||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28149341T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+13751A>G|||||||rs9608668||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28149341T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+13751A>G|||||||rs9608668||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28149341T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+13751A>G|||||||rs9608668||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28149341T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+13751A>G|||||||rs9608668||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28149341T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+13751A>G|||||||rs9608668||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28149341T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+13751A>G|||||||rs9608668||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28149341T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-28|-2|-11|11;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31047;gnomADv4_1_AC_joint_XX=15903;gnomADv4_1_AC_joint_XY=15144;gnomADv4_1_AF_grpmax_joint=0.270944;gnomADv4_1_AF_joint=0.20412;gnomADv4_1_AF_joint_XX=0.20454;gnomADv4_1_AF_joint_XY=0.20368;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3878;gnomADv4_1_nhomalt_joint_XX=2000;gnomADv4_1_nhomalt_joint_XY=1878;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28149637 chr22_28149637_C_T C T 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.387;CADD_Rawscore=-0.257427;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+13455G>A|||||||rs5762495||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28149637C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+13455G>A|||||||rs5762495||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28149637C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+13455G>A|||||||rs5762495||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28149637C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+13455G>A|||||||rs5762495||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28149637C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+13455G>A|||||||rs5762495||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28149637C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+13455G>A|||||||rs5762495||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28149637C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+13455G>A|||||||rs5762495||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28149637C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+13455G>A|||||||rs5762495||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28149637C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+13455G>A|||||||rs5762495||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28149637C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+13455G>A|||||||rs5762495||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28149637C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+13455G>A|||||||rs5762495||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28149637C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+13455G>A|||||||rs5762495||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28149637C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+13455G>A|||||||rs5762495||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28149637C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-3|29|41|-5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5696;gnomADv4_1_AC_joint_XX=2753;gnomADv4_1_AC_joint_XY=2943;gnomADv4_1_AF_grpmax_joint=0.133746;gnomADv4_1_AF_joint=0.0374151;gnomADv4_1_AF_joint_XX=0.0353729;gnomADv4_1_AF_joint_XY=0.0395511;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=187;gnomADv4_1_nhomalt_joint_XX=76;gnomADv4_1_nhomalt_joint_XY=111;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28150358 chr22_28150358_T_G T G 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=6.413;CADD_Rawscore=0.595623;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+12734A>C|||||||rs5762497||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28150358T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+12734A>C|||||||rs5762497||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28150358T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+12734A>C|||||||rs5762497||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28150358T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+12734A>C|||||||rs5762497||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28150358T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+12734A>C|||||||rs5762497||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28150358T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+12734A>C|||||||rs5762497||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28150358T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+12734A>C|||||||rs5762497||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28150358T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+12734A>C|||||||rs5762497||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28150358T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+12734A>C|||||||rs5762497||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28150358T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+12734A>C|||||||rs5762497||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28150358T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+12734A>C|||||||rs5762497||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28150358T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+12734A>C|||||||rs5762497||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28150358T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+12734A>C|||||||rs5762497||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28150358T>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-6|-20|47|-20;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17974;gnomADv4_1_AC_joint_XX=9116;gnomADv4_1_AC_joint_XY=8858;gnomADv4_1_AF_grpmax_joint=0.244898;gnomADv4_1_AF_joint=0.118088;gnomADv4_1_AF_joint_XX=0.117199;gnomADv4_1_AF_joint_XY=0.119018;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152208;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1163;gnomADv4_1_nhomalt_joint_XX=560;gnomADv4_1_nhomalt_joint_XY=603;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28151422 chr22_28151422_C_T C T 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=12.26;CADD_Rawscore=1.20914;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+11670G>A|||||||rs5762498||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28151422C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+11670G>A|||||||rs5762498||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28151422C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+11670G>A|||||||rs5762498||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28151422C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+11670G>A|||||||rs5762498||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28151422C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+11670G>A|||||||rs5762498||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28151422C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+11670G>A|||||||rs5762498||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28151422C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+11670G>A|||||||rs5762498||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28151422C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+11670G>A|||||||rs5762498||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28151422C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+11670G>A|||||||rs5762498||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28151422C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+11670G>A|||||||rs5762498||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28151422C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+11670G>A|||||||rs5762498||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28151422C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+11670G>A|||||||rs5762498||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28151422C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+11670G>A|||||||rs5762498||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28151422C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-3|45|26|22;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5674;gnomADv4_1_AC_joint_XX=2734;gnomADv4_1_AC_joint_XY=2940;gnomADv4_1_AF_grpmax_joint=0.131518;gnomADv4_1_AF_joint=0.0372584;gnomADv4_1_AF_joint_XX=0.0351315;gnomADv4_1_AF_joint_XY=0.0394811;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152288;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74466;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=193;gnomADv4_1_nhomalt_joint_XX=79;gnomADv4_1_nhomalt_joint_XY=114;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28153395 chr22_28153395_TA_T TA T 24 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=24;CADDIndel_PHREDscore=0.045;CADDIndel_Rawscore=-0.829878;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+9696del|||||||rs55726442||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28153418del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+9696del|||||||rs55726442||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28153418del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+9696del|||||||rs55726442||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28153418del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+9696del|||||||rs55726442||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28153418del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+9696del|||||||rs55726442||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28153418del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+9696del|||||||rs55726442||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28153418del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+9696del|||||||rs55726442||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28153418del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+9696del|||||||rs55726442||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28153418del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+9696del|||||||rs55726442||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28153418del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+9696del|||||||rs55726442||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28153418del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+9696del|||||||rs55726442||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28153418del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+9696del|||||||rs55726442||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28153418del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+9696del|||||||rs55726442||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28153418del|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-11|-28|25|34;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21861;gnomADv4_1_AC_joint_XX=12067;gnomADv4_1_AC_joint_XY=9794;gnomADv4_1_AF_grpmax_joint=0.292274;gnomADv4_1_AF_joint=0.225009;gnomADv4_1_AF_joint_XX=0.231045;gnomADv4_1_AF_joint_XY=0.217993;gnomADv4_1_AN_grpmax_joint=50090;gnomADv4_1_AN_joint=97156;gnomADv4_1_AN_joint_XX=52228;gnomADv4_1_AN_joint_XY=44928;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2108;gnomADv4_1_nhomalt_joint_XX=1171;gnomADv4_1_nhomalt_joint_XY=937;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28154321 chr22_28154321_AT_A AT A 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=.;AF_XY=0.5;AN=4;AN_XX=0;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.336;CADDIndel_Rawscore=-0.29303;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+8770del|||||||rs10537660||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28154334del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+8770del|||||||rs10537660||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28154334del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+8770del|||||||rs10537660||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28154334del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+8770del|||||||rs10537660||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28154334del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+8770del|||||||rs10537660||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28154334del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+8770del|||||||rs10537660||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28154334del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+8770del|||||||rs10537660||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28154334del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+8770del|||||||rs10537660||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28154334del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+8770del|||||||rs10537660||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28154334del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+8770del|||||||rs10537660||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28154334del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+8770del|||||||rs10537660||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28154334del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+8770del|||||||rs10537660||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28154334del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+8770del|||||||rs10537660||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28154334del|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|28|-19|-18|-31;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43583;gnomADv4_1_AC_joint_XX=22860;gnomADv4_1_AC_joint_XY=20723;gnomADv4_1_AF_grpmax_joint=0.381491;gnomADv4_1_AF_joint=0.317758;gnomADv4_1_AF_joint_XX=0.321465;gnomADv4_1_AF_joint_XY=0.313766;gnomADv4_1_AN_grpmax_joint=63784;gnomADv4_1_AN_joint=137158;gnomADv4_1_AN_joint_XX=71112;gnomADv4_1_AN_joint_XY=66046;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6847;gnomADv4_1_nhomalt_joint_XX=3604;gnomADv4_1_nhomalt_joint_XY=3243;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28155804 chr22_28155804_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.773;CADD_Rawscore=-0.08383;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+7288C>T|||||||rs73166800||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28155804G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+7288C>T|||||||rs73166800||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28155804G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+7288C>T|||||||rs73166800||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28155804G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+7288C>T|||||||rs73166800||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28155804G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+7288C>T|||||||rs73166800||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28155804G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+7288C>T|||||||rs73166800||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28155804G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+7288C>T|||||||rs73166800||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28155804G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+7288C>T|||||||rs73166800||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28155804G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+7288C>T|||||||rs73166800||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28155804G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+7288C>T|||||||rs73166800||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28155804G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+7288C>T|||||||rs73166800||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28155804G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+7288C>T|||||||rs73166800||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28155804G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+7288C>T|||||||rs73166800||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28155804G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|27|10|11|-33;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5156;gnomADv4_1_AC_joint_XX=2806;gnomADv4_1_AC_joint_XY=2350;gnomADv4_1_AF_grpmax_joint=0.0646259;gnomADv4_1_AF_joint=0.0338662;gnomADv4_1_AF_joint_XX=0.0360631;gnomADv4_1_AF_joint_XY=0.0315699;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152246;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=122;gnomADv4_1_nhomalt_joint_XX=70;gnomADv4_1_nhomalt_joint_XY=52;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28157192 chr22_28157192_G_A G A 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=8.76;CADD_Rawscore=0.849404;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+5900C>T|||||||rs4822952||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28157192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+5900C>T|||||||rs4822952||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28157192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+5900C>T|||||||rs4822952||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28157192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+5900C>T|||||||rs4822952||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28157192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+5900C>T|||||||rs4822952||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28157192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+5900C>T|||||||rs4822952||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28157192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+5900C>T|||||||rs4822952||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28157192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+5900C>T|||||||rs4822952||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28157192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+5900C>T|||||||rs4822952||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28157192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+5900C>T|||||||rs4822952||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28157192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+5900C>T|||||||rs4822952||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28157192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+5900C>T|||||||rs4822952||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28157192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+5900C>T|||||||rs4822952||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28157192G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|42|41|42|-11;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26894;gnomADv4_1_AC_joint_XX=13784;gnomADv4_1_AC_joint_XY=13110;gnomADv4_1_AF_grpmax_joint=0.228523;gnomADv4_1_AF_joint=0.176899;gnomADv4_1_AF_joint_XX=0.177368;gnomADv4_1_AF_joint_XY=0.176409;gnomADv4_1_AN_grpmax_joint=67932;gnomADv4_1_AN_joint=152030;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2811;gnomADv4_1_nhomalt_joint_XX=1471;gnomADv4_1_nhomalt_joint_XY=1340;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28157890 chr22_28157890_A_G A G 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=4.739;CADD_Rawscore=0.431702;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+5202T>C|||||||rs573176673||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28157890A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+5202T>C|||||||rs573176673||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28157890A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+5202T>C|||||||rs573176673||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28157890A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+5202T>C|||||||rs573176673||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28157890A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+5202T>C|||||||rs573176673||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28157890A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+5202T>C|||||||rs573176673||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28157890A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+5202T>C|||||||rs573176673||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28157890A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+5202T>C|||||||rs573176673||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28157890A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+5202T>C|||||||rs573176673||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28157890A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+5202T>C|||||||rs573176673||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28157890A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+5202T>C|||||||rs573176673||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28157890A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+5202T>C|||||||rs573176673||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28157890A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+5202T>C|||||||rs573176673||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28157890A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|21|-42|-11|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=171;gnomADv4_1_AC_joint_XX=80;gnomADv4_1_AC_joint_XY=91;gnomADv4_1_AF_grpmax_joint=0.00340136;gnomADv4_1_AF_joint=0.00112255;gnomADv4_1_AF_joint_XX=0.00102767;gnomADv4_1_AF_joint_XY=0.00122171;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152332;gnomADv4_1_AN_joint_XX=77846;gnomADv4_1_AN_joint_XY=74486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28158385 chr22_28158385_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.508;CADD_Rawscore=0.224511;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+4707A>G|||||||rs4820782||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28158385T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+4707A>G|||||||rs4820782||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28158385T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+4707A>G|||||||rs4820782||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28158385T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+4707A>G|||||||rs4820782||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28158385T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+4707A>G|||||||rs4820782||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28158385T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+4707A>G|||||||rs4820782||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28158385T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+4707A>G|||||||rs4820782||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28158385T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+4707A>G|||||||rs4820782||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28158385T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+4707A>G|||||||rs4820782||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28158385T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+4707A>G|||||||rs4820782||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28158385T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+4707A>G|||||||rs4820782||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28158385T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+4707A>G|||||||rs4820782||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28158385T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+4707A>G|||||||rs4820782||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28158385T>C|||1||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|0|43|0|31;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=109275;gnomADv4_1_AC_joint_XX=55920;gnomADv4_1_AC_joint_XY=53355;gnomADv4_1_AF_grpmax_joint=0.796894;gnomADv4_1_AF_joint=0.718858;gnomADv4_1_AF_joint_XX=0.719636;gnomADv4_1_AF_joint_XY=0.718044;gnomADv4_1_AN_grpmax_joint=41466;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=39542;gnomADv4_1_nhomalt_joint_XX=20242;gnomADv4_1_nhomalt_joint_XY=19300;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28159658 chr22_28159658_C_CA C CA 26 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=26;CADDIndel_PHREDscore=0.695;CADDIndel_Rawscore=-0.11088;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+3433dup|||||||rs135652||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28159677dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+3433dup|||||||rs135652||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28159677dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+3433dup|||||||rs135652||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28159677dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+3433dup|||||||rs135652||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28159677dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+3433dup|||||||rs135652||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28159677dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+3433dup|||||||rs135652||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28159677dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+3433dup|||||||rs135652||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28159677dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+3433dup|||||||rs135652||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28159677dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+3433dup|||||||rs135652||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28159677dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+3433dup|||||||rs135652||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28159677dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+3433dup|||||||rs135652||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28159677dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+3433dup|||||||rs135652||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28159677dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+3433dup|||||||rs135652||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28159677dup|||||||||||||;SpliceAI=CA|TTC28|0.00|0.00|0.00|0.00|-7|29|2|29;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11686;gnomADv4_1_AC_joint_XX=6196;gnomADv4_1_AC_joint_XY=5490;gnomADv4_1_AF_grpmax_joint=0.247007;gnomADv4_1_AF_joint=0.167517;gnomADv4_1_AF_joint_XX=0.168278;gnomADv4_1_AF_joint_XY=0.166667;gnomADv4_1_AN_grpmax_joint=2506;gnomADv4_1_AN_joint=69760;gnomADv4_1_AN_joint_XX=36820;gnomADv4_1_AN_joint_XY=32940;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=579;gnomADv4_1_nhomalt_joint_XX=306;gnomADv4_1_nhomalt_joint_XY=273;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28161753 chr22_28161753_C_CAGGAA;chr22_28161753_C_CAGGACAGGAA C CAGGAA 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.239;CADDIndel_Rawscore=-0.380968;CSQ=AGGAA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+1334_1441+1338dup|||||||rs60865010||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28161763_28161767dup|||||||||||||,AGGAA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+1334_1060+1338dup|||||||rs60865010||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28161763_28161767dup|||||||||||||,AGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+1334_1441+1338dup|||||||rs60865010||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28161763_28161767dup|||||||||||||,AGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+1334_1441+1338dup|||||||rs60865010||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28161763_28161767dup|||||||||||||,AGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+1334_1087+1338dup|||||||rs60865010||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28161763_28161767dup|||||||||||||,AGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+1334_1087+1338dup|||||||rs60865010||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28161763_28161767dup|||||||||||||,AGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+1334_1363+1338dup|||||||rs60865010||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28161763_28161767dup|||||||||||||,AGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+1334_1441+1338dup|||||||rs60865010||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28161763_28161767dup|||||||||||||,AGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+1334_1441+1338dup|||||||rs60865010||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28161763_28161767dup|||||||||||||,AGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+1334_1441+1338dup|||||||rs60865010||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28161763_28161767dup|||||||||||||,AGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+1334_1351+1338dup|||||||rs60865010||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28161763_28161767dup|||||||||||||,AGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+1334_1363+1338dup|||||||rs60865010||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28161763_28161767dup|||||||||||||,AGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+1334_1135+1338dup|||||||rs60865010||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28161763_28161767dup|||||||||||||;TYPE=INDEL;VEP_Allele=AGGAA,AGGAA,AGGAA,AGGAA,AGGAA,AGGAA,AGGAA,AGGAA,AGGAA,AGGAA,AGGAA,AGGAA,AGGAA;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8832;gnomADv4_1_AC_joint_XX=4288;gnomADv4_1_AC_joint_XY=4544;gnomADv4_1_AF_grpmax_joint=0.174425;gnomADv4_1_AF_joint=0.071557;gnomADv4_1_AF_joint_XX=0.0663141;gnomADv4_1_AF_joint_XY=0.0773263;gnomADv4_1_AN_grpmax_joint=3566;gnomADv4_1_AN_joint=123426;gnomADv4_1_AN_joint_XX=64662;gnomADv4_1_AN_joint_XY=58764;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=423;gnomADv4_1_nhomalt_joint_XX=181;gnomADv4_1_nhomalt_joint_XY=242;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28161753 chr22_28161753_C_CAGGAA;chr22_28161753_C_CAGGACAGGAA C CAGGACAGGAA 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADDIndel_PHREDscore=0.215;CADDIndel_Rawscore=-0.407927;CSQ=AGGACAGGAA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+1338_1441+1339insTTCCTGTCCT|||||||rs566680858||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28161757_28161758insCAGGAAAGGA|||||||||||||,AGGACAGGAA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+1338_1060+1339insTTCCTGTCCT|||||||rs566680858||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28161757_28161758insCAGGAAAGGA|||||||||||||,AGGACAGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+1338_1441+1339insTTCCTGTCCT|||||||rs566680858||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28161757_28161758insCAGGAAAGGA|||||||||||||,AGGACAGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+1338_1441+1339insTTCCTGTCCT|||||||rs566680858||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28161757_28161758insCAGGAAAGGA|||||||||||||,AGGACAGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+1338_1087+1339insTTCCTGTCCT|||||||rs566680858||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28161757_28161758insCAGGAAAGGA|||||||||||||,AGGACAGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+1338_1087+1339insTTCCTGTCCT|||||||rs566680858||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28161757_28161758insCAGGAAAGGA|||||||||||||,AGGACAGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+1338_1363+1339insTTCCTGTCCT|||||||rs566680858||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28161757_28161758insCAGGAAAGGA|||||||||||||,AGGACAGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+1338_1441+1339insTTCCTGTCCT|||||||rs566680858||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28161757_28161758insCAGGAAAGGA|||||||||||||,AGGACAGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+1338_1441+1339insTTCCTGTCCT|||||||rs566680858||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28161757_28161758insCAGGAAAGGA|||||||||||||,AGGACAGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+1338_1441+1339insTTCCTGTCCT|||||||rs566680858||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28161757_28161758insCAGGAAAGGA|||||||||||||,AGGACAGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+1338_1351+1339insTTCCTGTCCT|||||||rs566680858||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28161757_28161758insCAGGAAAGGA|||||||||||||,AGGACAGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+1338_1363+1339insTTCCTGTCCT|||||||rs566680858||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28161757_28161758insCAGGAAAGGA|||||||||||||,AGGACAGGAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+1338_1135+1339insTTCCTGTCCT|||||||rs566680858||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28161757_28161758insCAGGAAAGGA|||||||||||||;TYPE=INDEL;VEP_Allele=AGGACAGGAA,AGGACAGGAA,AGGACAGGAA,AGGACAGGAA,AGGACAGGAA,AGGACAGGAA,AGGACAGGAA,AGGACAGGAA,AGGACAGGAA,AGGACAGGAA,AGGACAGGAA,AGGACAGGAA,AGGACAGGAA;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7407;gnomADv4_1_AC_joint_XX=3828;gnomADv4_1_AC_joint_XY=3579;gnomADv4_1_AF_grpmax_joint=0.145455;gnomADv4_1_AF_joint=0.0600545;gnomADv4_1_AF_joint_XX=0.0592423;gnomADv4_1_AF_joint_XY=0.0609482;gnomADv4_1_AN_grpmax_joint=220;gnomADv4_1_AN_joint=123338;gnomADv4_1_AN_joint_XX=64616;gnomADv4_1_AN_joint_XY=58722;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=225;gnomADv4_1_nhomalt_joint_XX=111;gnomADv4_1_nhomalt_joint_XY=114;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28161901 chr22_28161901_A_AGGAG A AGGAG 35 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=35;CADDIndel_PHREDscore=0.658;CADDIndel_Rawscore=-0.124636;CSQ=GGAG|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+1187_1441+1190dup|||||||rs59668076||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28161917_28161920dup|||1||||||||||,GGAG|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+1187_1060+1190dup|||||||rs59668076||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28161917_28161920dup|||1||||||||||,GGAG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+1187_1441+1190dup|||||||rs59668076||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28161917_28161920dup|||1||||||||||,GGAG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+1187_1441+1190dup|||||||rs59668076||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28161917_28161920dup|||1||||||||||,GGAG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+1187_1087+1190dup|||||||rs59668076||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28161917_28161920dup|||1||||||||||,GGAG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+1187_1087+1190dup|||||||rs59668076||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28161917_28161920dup|||1||||||||||,GGAG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+1187_1363+1190dup|||||||rs59668076||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28161917_28161920dup|||1||||||||||,GGAG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+1187_1441+1190dup|||||||rs59668076||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28161917_28161920dup|||1||||||||||,GGAG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+1187_1441+1190dup|||||||rs59668076||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28161917_28161920dup|||1||||||||||,GGAG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+1187_1441+1190dup|||||||rs59668076||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28161917_28161920dup|||1||||||||||,GGAG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+1187_1351+1190dup|||||||rs59668076||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28161917_28161920dup|||1||||||||||,GGAG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+1187_1363+1190dup|||||||rs59668076||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28161917_28161920dup|||1||||||||||,GGAG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+1187_1135+1190dup|||||||rs59668076||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28161917_28161920dup|||1||||||||||;TYPE=INDEL;VEP_Allele=GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=86503;gnomADv4_1_AC_joint_XX=45810;gnomADv4_1_AC_joint_XY=40693;gnomADv4_1_AF_grpmax_joint=0.776316;gnomADv4_1_AF_joint=0.751298;gnomADv4_1_AF_joint_XX=0.752316;gnomADv4_1_AF_joint_XY=0.750157;gnomADv4_1_AN_grpmax_joint=228;gnomADv4_1_AN_joint=115138;gnomADv4_1_AN_joint_XX=60892;gnomADv4_1_AN_joint_XY=54246;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31238;gnomADv4_1_nhomalt_joint_XX=16590;gnomADv4_1_nhomalt_joint_XY=14648;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28162691 chr22_28162691_A_G A G 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.102;CADD_Rawscore=0.007448;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+401T>C|||||||rs135654||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28162691A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+401T>C|||||||rs135654||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28162691A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+401T>C|||||||rs135654||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28162691A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+401T>C|||||||rs135654||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28162691A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+401T>C|||||||rs135654||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28162691A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+401T>C|||||||rs135654||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28162691A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+401T>C|||||||rs135654||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28162691A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+401T>C|||||||rs135654||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28162691A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+401T>C|||||||rs135654||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28162691A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+401T>C|||||||rs135654||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28162691A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+401T>C|||||||rs135654||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28162691A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+401T>C|||||||rs135654||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28162691A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+401T>C|||||||rs135654||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28162691A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-35|3|-13|-3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=142119;gnomADv4_1_AC_joint_XX=72666;gnomADv4_1_AC_joint_XY=69453;gnomADv4_1_AF_grpmax_joint=0.965025;gnomADv4_1_AF_joint=0.933054;gnomADv4_1_AF_joint_XX=0.933386;gnomADv4_1_AF_joint_XY=0.932706;gnomADv4_1_AN_grpmax_joint=4832;gnomADv4_1_AN_joint=152316;gnomADv4_1_AN_joint_XX=77852;gnomADv4_1_AN_joint_XY=74464;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=66404;gnomADv4_1_nhomalt_joint_XX=33949;gnomADv4_1_nhomalt_joint_XY=32455;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28162778 chr22_28162778_T_C T C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=6.659;CADD_Rawscore=0.621521;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||6/22|ENST00000397906.7:c.1441+314A>G|||||||rs55916256||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28162778T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||4/20|ENST00000612946.4:c.1060+314A>G|||||||rs55916256||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28162778T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||6/22|NM_001145418.2:c.1441+314A>G|||||||rs55916256||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28162778T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||6/21|NM_001393403.1:c.1441+314A>G|||||||rs55916256||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28162778T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||5/21|NM_001393404.1:c.1087+314A>G|||||||rs55916256||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28162778T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||5/20|NM_001393405.1:c.1087+314A>G|||||||rs55916256||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28162778T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||6/22|XM_011530018.4:c.1363+314A>G|||||||rs55916256||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28162778T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||6/14|XM_011530019.3:c.1441+314A>G|||||||rs55916256||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28162778T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||6/13|XM_011530020.2:c.1441+314A>G|||||||rs55916256||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28162778T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||6/14|XM_011530021.4:c.1441+314A>G|||||||rs55916256||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28162778T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||6/22|XM_017028673.3:c.1351+314A>G|||||||rs55916256||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28162778T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||6/21|XM_047441214.1:c.1363+314A>G|||||||rs55916256||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28162778T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||6/22|XM_047441215.1:c.1135+314A>G|||||||rs55916256||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28162778T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|4|-2|9|37;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40183;gnomADv4_1_AC_joint_XX=20585;gnomADv4_1_AC_joint_XY=19598;gnomADv4_1_AF_grpmax_joint=0.38626;gnomADv4_1_AF_joint=0.264209;gnomADv4_1_AF_joint_XX=0.264711;gnomADv4_1_AF_joint_XY=0.263683;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6514;gnomADv4_1_nhomalt_joint_XX=3390;gnomADv4_1_nhomalt_joint_XY=3124;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28163132 chr22_28163132_G_C G C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=7.542;CADD_Rawscore=0.717631;CSQ=C|synonymous_variant|LOW|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding|6/23||ENST00000397906.7%3Ac.1401C>G|ENSP00000381003.2%3Ap.Leu467%3D|1518|1401|467|L|ctC/ctG|rs17486417||-1||HGNC|HGNC%3A29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22%3Ag.28163132G>C|||||||||||||,C|synonymous_variant|LOW|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding|4/21||ENST00000612946.4%3Ac.1020C>G|ENSP00000479834.1%3Ap.Leu340%3D|1022|1020|340|L|ctC/ctG|rs17486417||-1||HGNC|HGNC%3A29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22%3Ag.28163132G>C|||||||||||||,C|synonymous_variant|LOW|TTC28|23331|Transcript|NM_001145418.2|protein_coding|6/23||NM_001145418.2%3Ac.1401C>G|NP_001138890.1%3Ap.Leu467%3D|1518|1401|467|L|ctC/ctG|rs17486417||-1||EntrezGene|HGNC%3A29179|||NP_001138890.1||||||RefSeq||G|G||||chr22%3Ag.28163132G>C|||||||||||||,C|synonymous_variant|LOW|TTC28|23331|Transcript|NM_001393403.1|protein_coding|6/22||NM_001393403.1%3Ac.1401C>G|NP_001380332.1%3Ap.Leu467%3D|1518|1401|467|L|ctC/ctG|rs17486417||-1||EntrezGene|HGNC%3A29179|||NP_001380332.1||||||RefSeq||G|G||||chr22%3Ag.28163132G>C|||||||||||||,C|synonymous_variant|LOW|TTC28|23331|Transcript|NM_001393404.1|protein_coding|5/22||NM_001393404.1%3Ac.1047C>G|NP_001380333.1%3Ap.Leu349%3D|1794|1047|349|L|ctC/ctG|rs17486417||-1||EntrezGene|HGNC%3A29179|||NP_001380333.1||||||RefSeq||G|G||||chr22%3Ag.28163132G>C|||||||||||||,C|synonymous_variant|LOW|TTC28|23331|Transcript|NM_001393405.1|protein_coding|5/21||NM_001393405.1%3Ac.1047C>G|NP_001380334.1%3Ap.Leu349%3D|1794|1047|349|L|ctC/ctG|rs17486417||-1||EntrezGene|HGNC%3A29179|||NP_001380334.1||||||RefSeq||G|G||||chr22%3Ag.28163132G>C|||||||||||||,C|synonymous_variant|LOW|TTC28|23331|Transcript|XM_011530018.4|protein_coding|6/23||XM_011530018.4%3Ac.1323C>G|XP_011528320.1%3Ap.Leu441%3D|1721|1323|441|L|ctC/ctG|rs17486417||-1||EntrezGene|HGNC%3A29179|||XP_011528320.1||||||RefSeq||G|G||||chr22%3Ag.28163132G>C|||||||||||||,C|synonymous_variant|LOW|TTC28|23331|Transcript|XM_011530019.3|protein_coding|6/15||XM_011530019.3%3Ac.1401C>G|XP_011528321.1%3Ap.Leu467%3D|1518|1401|467|L|ctC/ctG|rs17486417||-1||EntrezGene|HGNC%3A29179|||XP_011528321.1||||||RefSeq||G|G||||chr22%3Ag.28163132G>C|||||||||||||,C|synonymous_variant|LOW|TTC28|23331|Transcript|XM_011530020.2|protein_coding|6/14||XM_011530020.2%3Ac.1401C>G|XP_011528322.1%3Ap.Leu467%3D|1518|1401|467|L|ctC/ctG|rs17486417||-1||EntrezGene|HGNC%3A29179|||XP_011528322.1||||||RefSeq||G|G||||chr22%3Ag.28163132G>C|||||||||||||,C|synonymous_variant|LOW|TTC28|23331|Transcript|XM_011530021.4|protein_coding|6/15||XM_011530021.4%3Ac.1401C>G|XP_011528323.1%3Ap.Leu467%3D|1518|1401|467|L|ctC/ctG|rs17486417||-1||EntrezGene|HGNC%3A29179|||XP_011528323.1||||||RefSeq||G|G||||chr22%3Ag.28163132G>C|||||||||||||,C|synonymous_variant|LOW|TTC28|23331|Transcript|XM_017028673.3|protein_coding|6/23||XM_017028673.3%3Ac.1311C>G|XP_016884162.1%3Ap.Leu437%3D|1518|1311|437|L|ctC/ctG|rs17486417||-1||EntrezGene|HGNC%3A29179|||XP_016884162.1||||||RefSeq||G|G||||chr22%3Ag.28163132G>C|||||||||||||,C|synonymous_variant|LOW|TTC28|23331|Transcript|XM_047441214.1|protein_coding|6/22||XM_047441214.1%3Ac.1323C>G|XP_047297170.1%3Ap.Leu441%3D|1721|1323|441|L|ctC/ctG|rs17486417||-1||EntrezGene|HGNC%3A29179|||XP_047297170.1||||||RefSeq||G|G||||chr22%3Ag.28163132G>C|||||||||||||,C|synonymous_variant|LOW|TTC28|23331|Transcript|XM_047441215.1|protein_coding|6/23||XM_047441215.1%3Ac.1095C>G|XP_047297171.1%3Ap.Leu365%3D|1603|1095|365|L|ctC/ctG|rs17486417||-1||EntrezGene|HGNC%3A29179|||XP_047297171.1||||||RefSeq||G|G||||chr22%3Ag.28163132G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|23|-4|-42|-40;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=205584;gnomADv4_1_AC_joint_XX=102492;gnomADv4_1_AC_joint_XY=103092;gnomADv4_1_AF_grpmax_joint=0.231964;gnomADv4_1_AF_joint=0.132509;gnomADv4_1_AF_joint_XX=0.130238;gnomADv4_1_AF_joint_XY=0.134848;gnomADv4_1_AN_grpmax_joint=5988;gnomADv4_1_AN_joint=1551468;gnomADv4_1_AN_joint_XX=786960;gnomADv4_1_AN_joint_XY=764508;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=14393;gnomADv4_1_nhomalt_joint_XX=7005;gnomADv4_1_nhomalt_joint_XY=7388;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28164006 chr22_28164006_C_A C A 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.779;CADD_Rawscore=-0.081937;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-407G>T|||||||rs62237575||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28164006C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-407G>T|||||||rs62237575||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28164006C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-407G>T|||||||rs62237575||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28164006C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-407G>T|||||||rs62237575||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28164006C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-407G>T|||||||rs62237575||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28164006C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-407G>T|||||||rs62237575||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28164006C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-407G>T|||||||rs62237575||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28164006C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-407G>T|||||||rs62237575||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28164006C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-407G>T|||||||rs62237575||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28164006C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-407G>T|||||||rs62237575||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28164006C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-407G>T|||||||rs62237575||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28164006C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-407G>T|||||||rs62237575||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28164006C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-407G>T|||||||rs62237575||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28164006C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-38|0|-20|0;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4562;gnomADv4_1_AC_joint_XX=2343;gnomADv4_1_AC_joint_XY=2219;gnomADv4_1_AF_grpmax_joint=0.0843304;gnomADv4_1_AF_joint=0.0299493;gnomADv4_1_AF_joint_XX=0.0300994;gnomADv4_1_AF_joint_XY=0.0297924;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152324;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74482;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=101;gnomADv4_1_nhomalt_joint_XX=55;gnomADv4_1_nhomalt_joint_XY=46;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28165480 chr22_28165480_A_T A T 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.866;CADD_Rawscore=-0.054731;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-1881T>A|||||||rs135656||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28165480A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-1881T>A|||||||rs135656||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28165480A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-1881T>A|||||||rs135656||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28165480A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-1881T>A|||||||rs135656||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28165480A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-1881T>A|||||||rs135656||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28165480A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-1881T>A|||||||rs135656||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28165480A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-1881T>A|||||||rs135656||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28165480A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-1881T>A|||||||rs135656||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28165480A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-1881T>A|||||||rs135656||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28165480A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-1881T>A|||||||rs135656||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28165480A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-1881T>A|||||||rs135656||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28165480A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-1881T>A|||||||rs135656||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28165480A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-1881T>A|||||||rs135656||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28165480A>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|11|-9|-33|16;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=136126;gnomADv4_1_AC_joint_XX=69900;gnomADv4_1_AC_joint_XY=66226;gnomADv4_1_AF_grpmax_joint=0.946299;gnomADv4_1_AF_joint=0.909532;gnomADv4_1_AF_joint_XX=0.911367;gnomADv4_1_AF_joint_XY=0.907603;gnomADv4_1_AN_grpmax_joint=41042;gnomADv4_1_AN_joint=149666;gnomADv4_1_AN_joint_XX=76698;gnomADv4_1_AN_joint_XY=72968;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=62076;gnomADv4_1_nhomalt_joint_XX=31902;gnomADv4_1_nhomalt_joint_XY=30174;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28165481 chr22_28165481_G_C G C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.159;CADD_Rawscore=-0.487636;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-1882C>G|||||||rs135657||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28165481G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-1882C>G|||||||rs135657||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28165481G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-1882C>G|||||||rs135657||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28165481G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-1882C>G|||||||rs135657||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28165481G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-1882C>G|||||||rs135657||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28165481G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-1882C>G|||||||rs135657||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28165481G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-1882C>G|||||||rs135657||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28165481G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-1882C>G|||||||rs135657||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28165481G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-1882C>G|||||||rs135657||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28165481G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-1882C>G|||||||rs135657||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28165481G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-1882C>G|||||||rs135657||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28165481G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-1882C>G|||||||rs135657||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28165481G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-1882C>G|||||||rs135657||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28165481G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|10|17|-34|15;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=136144;gnomADv4_1_AC_joint_XX=69909;gnomADv4_1_AC_joint_XY=66235;gnomADv4_1_AF_grpmax_joint=0.94622;gnomADv4_1_AF_joint=0.908681;gnomADv4_1_AF_joint_XX=0.910605;gnomADv4_1_AF_joint_XY=0.906658;gnomADv4_1_AN_grpmax_joint=41056;gnomADv4_1_AN_joint=149826;gnomADv4_1_AN_joint_XX=76772;gnomADv4_1_AN_joint_XY=73054;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=62090;gnomADv4_1_nhomalt_joint_XX=31911;gnomADv4_1_nhomalt_joint_XY=30179;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28165483 chr22_28165483_A_G A G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.326;CADD_Rawscore=-0.30101;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-1884T>C|||||||rs135658||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28165483A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-1884T>C|||||||rs135658||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28165483A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-1884T>C|||||||rs135658||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28165483A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-1884T>C|||||||rs135658||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28165483A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-1884T>C|||||||rs135658||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28165483A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-1884T>C|||||||rs135658||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28165483A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-1884T>C|||||||rs135658||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28165483A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-1884T>C|||||||rs135658||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28165483A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-1884T>C|||||||rs135658||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28165483A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-1884T>C|||||||rs135658||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28165483A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-1884T>C|||||||rs135658||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28165483A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-1884T>C|||||||rs135658||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28165483A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-1884T>C|||||||rs135658||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28165483A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|8|-12|-36|13;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=127136;gnomADv4_1_AC_joint_XX=65370;gnomADv4_1_AC_joint_XY=61766;gnomADv4_1_AF_grpmax_joint=0.930737;gnomADv4_1_AF_joint=0.851764;gnomADv4_1_AF_joint_XX=0.853974;gnomADv4_1_AF_joint_XY=0.849438;gnomADv4_1_AN_grpmax_joint=41032;gnomADv4_1_AN_joint=149262;gnomADv4_1_AN_joint_XX=76548;gnomADv4_1_AN_joint_XY=72714;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=54391;gnomADv4_1_nhomalt_joint_XX=28008;gnomADv4_1_nhomalt_joint_XY=26383;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28167154 chr22_28167154_A_C A C 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.204;CADD_Rawscore=0.189743;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-3555T>G|||||||rs5762504||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28167154A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-3555T>G|||||||rs5762504||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28167154A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-3555T>G|||||||rs5762504||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28167154A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-3555T>G|||||||rs5762504||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28167154A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-3555T>G|||||||rs5762504||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28167154A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-3555T>G|||||||rs5762504||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28167154A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-3555T>G|||||||rs5762504||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28167154A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-3555T>G|||||||rs5762504||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28167154A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-3555T>G|||||||rs5762504||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28167154A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-3555T>G|||||||rs5762504||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28167154A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-3555T>G|||||||rs5762504||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28167154A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-3555T>G|||||||rs5762504||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28167154A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-3555T>G|||||||rs5762504||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28167154A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|10|-18|0|35;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9063;gnomADv4_1_AC_joint_XX=4546;gnomADv4_1_AC_joint_XY=4517;gnomADv4_1_AF_grpmax_joint=0.142719;gnomADv4_1_AF_joint=0.0594958;gnomADv4_1_AF_joint_XX=0.0584094;gnomADv4_1_AF_joint_XY=0.0606309;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152330;gnomADv4_1_AN_joint_XX=77830;gnomADv4_1_AN_joint_XY=74500;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=343;gnomADv4_1_nhomalt_joint_XX=164;gnomADv4_1_nhomalt_joint_XY=179;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28168290 chr22_28168290_C_A C A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.24;CADD_Rawscore=-0.379969;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-4691G>T|||||||rs531133077||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28168290C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-4691G>T|||||||rs531133077||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28168290C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-4691G>T|||||||rs531133077||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28168290C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-4691G>T|||||||rs531133077||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28168290C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-4691G>T|||||||rs531133077||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28168290C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-4691G>T|||||||rs531133077||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28168290C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-4691G>T|||||||rs531133077||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28168290C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-4691G>T|||||||rs531133077||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28168290C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-4691G>T|||||||rs531133077||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28168290C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-4691G>T|||||||rs531133077||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28168290C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-4691G>T|||||||rs531133077||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28168290C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-4691G>T|||||||rs531133077||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28168290C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-4691G>T|||||||rs531133077||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28168290C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-49|7|-2|-47;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11834;gnomADv4_1_AC_joint_XX=6089;gnomADv4_1_AC_joint_XY=5745;gnomADv4_1_AF_grpmax_joint=0.170686;gnomADv4_1_AF_joint=0.0777765;gnomADv4_1_AF_joint_XX=0.078295;gnomADv4_1_AF_joint_XY=0.0772344;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=572;gnomADv4_1_nhomalt_joint_XX=292;gnomADv4_1_nhomalt_joint_XY=280;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28168291 chr22_28168291_A_T A T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.068;CADD_Rawscore=-0.716857;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-4692T>A|||||||rs552308765||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28168291A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-4692T>A|||||||rs552308765||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28168291A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-4692T>A|||||||rs552308765||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28168291A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-4692T>A|||||||rs552308765||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28168291A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-4692T>A|||||||rs552308765||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28168291A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-4692T>A|||||||rs552308765||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28168291A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-4692T>A|||||||rs552308765||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28168291A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-4692T>A|||||||rs552308765||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28168291A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-4692T>A|||||||rs552308765||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28168291A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-4692T>A|||||||rs552308765||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28168291A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-4692T>A|||||||rs552308765||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28168291A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-4692T>A|||||||rs552308765||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28168291A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-4692T>A|||||||rs552308765||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28168291A>T|||1||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|6|4|31;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11835;gnomADv4_1_AC_joint_XX=6088;gnomADv4_1_AC_joint_XY=5747;gnomADv4_1_AF_grpmax_joint=0.170473;gnomADv4_1_AF_joint=0.0777789;gnomADv4_1_AF_joint_XX=0.0783002;gnomADv4_1_AF_joint_XY=0.0772342;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=572;gnomADv4_1_nhomalt_joint_XX=292;gnomADv4_1_nhomalt_joint_XY=280;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28169185 chr22_28169185_G_C G C 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=2.697;CADD_Rawscore=0.244481;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-5586C>G|||||||rs564476921||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28169185G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-5586C>G|||||||rs564476921||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28169185G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-5586C>G|||||||rs564476921||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28169185G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-5586C>G|||||||rs564476921||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28169185G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-5586C>G|||||||rs564476921||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28169185G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-5586C>G|||||||rs564476921||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28169185G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-5586C>G|||||||rs564476921||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28169185G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-5586C>G|||||||rs564476921||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28169185G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-5586C>G|||||||rs564476921||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28169185G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-5586C>G|||||||rs564476921||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28169185G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-5586C>G|||||||rs564476921||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28169185G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-5586C>G|||||||rs564476921||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28169185G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-5586C>G|||||||rs564476921||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28169185G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|42|-6|-48|-6;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=598;gnomADv4_1_AC_joint_XX=336;gnomADv4_1_AC_joint_XY=262;gnomADv4_1_AF_grpmax_joint=0.0306122;gnomADv4_1_AF_joint=0.00392605;gnomADv4_1_AF_joint_XX=0.0043171;gnomADv4_1_AF_joint_XY=0.00351744;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152316;gnomADv4_1_AN_joint_XX=77830;gnomADv4_1_AN_joint_XY=74486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28170489 chr22_28170489_C_CA C CA 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=41;CADDIndel_PHREDscore=0.7;CADDIndel_Rawscore=-0.108786;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-6891dup|||||||rs71791002||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28170503dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-6891dup|||||||rs71791002||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28170503dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-6891dup|||||||rs71791002||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28170503dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-6891dup|||||||rs71791002||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28170503dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-6891dup|||||||rs71791002||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28170503dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-6891dup|||||||rs71791002||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28170503dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-6891dup|||||||rs71791002||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28170503dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-6891dup|||||||rs71791002||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28170503dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-6891dup|||||||rs71791002||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28170503dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-6891dup|||||||rs71791002||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28170503dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-6891dup|||||||rs71791002||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28170503dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-6891dup|||||||rs71791002||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28170503dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-6891dup|||||||rs71791002||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28170503dup|||||||||||||;SpliceAI=CA|TTC28|0.00|0.00|0.00|0.00|-4|-7|33|42;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26943;gnomADv4_1_AC_joint_XX=14205;gnomADv4_1_AC_joint_XY=12738;gnomADv4_1_AF_grpmax_joint=0.42402;gnomADv4_1_AF_joint=0.270073;gnomADv4_1_AF_joint_XX=0.270396;gnomADv4_1_AF_joint_XY=0.269713;gnomADv4_1_AN_grpmax_joint=29442;gnomADv4_1_AN_joint=99762;gnomADv4_1_AN_joint_XX=52534;gnomADv4_1_AN_joint_XY=47228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3170;gnomADv4_1_nhomalt_joint_XX=1652;gnomADv4_1_nhomalt_joint_XY=1518;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28171204 chr22_28171204_G_A G A 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.015;CADD_Rawscore=-1.14347;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-7605C>T|||||||rs5762506||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28171204G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-7605C>T|||||||rs5762506||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28171204G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-7605C>T|||||||rs5762506||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28171204G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-7605C>T|||||||rs5762506||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28171204G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-7605C>T|||||||rs5762506||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28171204G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-7605C>T|||||||rs5762506||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28171204G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-7605C>T|||||||rs5762506||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28171204G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-7605C>T|||||||rs5762506||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28171204G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-7605C>T|||||||rs5762506||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28171204G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-7605C>T|||||||rs5762506||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28171204G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-7605C>T|||||||rs5762506||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28171204G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-7605C>T|||||||rs5762506||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28171204G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-7605C>T|||||||rs5762506||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28171204G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|11|42|2|-24;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5642;gnomADv4_1_AC_joint_XX=2721;gnomADv4_1_AC_joint_XY=2921;gnomADv4_1_AF_grpmax_joint=0.132211;gnomADv4_1_AF_joint=0.0370745;gnomADv4_1_AF_joint_XX=0.0349869;gnomADv4_1_AF_joint_XY=0.0392565;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=186;gnomADv4_1_nhomalt_joint_XX=76;gnomADv4_1_nhomalt_joint_XY=110;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28171622 chr22_28171622_CA_C CA C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=4.4;CADDIndel_Rawscore=0.400917;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-8024del|||||||rs5844804||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28171639del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-8024del|||||||rs5844804||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28171639del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-8024del|||||||rs5844804||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28171639del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-8024del|||||||rs5844804||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28171639del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-8024del|||||||rs5844804||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28171639del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-8024del|||||||rs5844804||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28171639del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-8024del|||||||rs5844804||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28171639del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-8024del|||||||rs5844804||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28171639del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-8024del|||||||rs5844804||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28171639del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-8024del|||||||rs5844804||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28171639del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-8024del|||||||rs5844804||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28171639del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-8024del|||||||rs5844804||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28171639del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-8024del|||||||rs5844804||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28171639del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-20|-25|2|-3;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45705;gnomADv4_1_AC_joint_XX=23696;gnomADv4_1_AC_joint_XY=22009;gnomADv4_1_AF_grpmax_joint=0.480707;gnomADv4_1_AF_joint=0.437301;gnomADv4_1_AF_joint_XX=0.435877;gnomADv4_1_AF_joint_XY=0.438846;gnomADv4_1_AN_grpmax_joint=3732;gnomADv4_1_AN_joint=104516;gnomADv4_1_AN_joint_XX=54364;gnomADv4_1_AN_joint_XY=50152;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6113;gnomADv4_1_nhomalt_joint_XX=3221;gnomADv4_1_nhomalt_joint_XY=2892;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28173661 chr22_28173661_T_A T A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=9.518;CADD_Rawscore=0.926195;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-10062A>T|||||||rs950502034||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28173661T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-10062A>T|||||||rs950502034||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28173661T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-10062A>T|||||||rs950502034||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28173661T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-10062A>T|||||||rs950502034||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28173661T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-10062A>T|||||||rs950502034||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28173661T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-10062A>T|||||||rs950502034||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28173661T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-10062A>T|||||||rs950502034||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28173661T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-10062A>T|||||||rs950502034||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28173661T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-10062A>T|||||||rs950502034||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28173661T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-10062A>T|||||||rs950502034||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28173661T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-10062A>T|||||||rs950502034||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28173661T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-10062A>T|||||||rs950502034||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28173661T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-10062A>T|||||||rs950502034||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28173661T>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-9|-34|-48|-34;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28;gnomADv4_1_AC_joint_XX=15;gnomADv4_1_AC_joint_XY=13;gnomADv4_1_AF_grpmax_joint=4.40956e-05;gnomADv4_1_AF_joint=0.000183932;gnomADv4_1_AF_joint_XX=0.000192634;gnomADv4_1_AF_joint_XY=0.00017482;gnomADv4_1_AN_grpmax_joint=68034;gnomADv4_1_AN_joint=152230;gnomADv4_1_AN_joint_XX=77868;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28174448 chr22_28174448_A_G A G 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=5.377;CADD_Rawscore=0.491649;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-10849T>C|||||||rs5762508||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28174448A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-10849T>C|||||||rs5762508||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28174448A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-10849T>C|||||||rs5762508||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28174448A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-10849T>C|||||||rs5762508||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28174448A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-10849T>C|||||||rs5762508||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28174448A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-10849T>C|||||||rs5762508||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28174448A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-10849T>C|||||||rs5762508||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28174448A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-10849T>C|||||||rs5762508||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28174448A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-10849T>C|||||||rs5762508||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28174448A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-10849T>C|||||||rs5762508||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28174448A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-10849T>C|||||||rs5762508||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28174448A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-10849T>C|||||||rs5762508||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28174448A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-10849T>C|||||||rs5762508||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28174448A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|50|-12|-16|50;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9092;gnomADv4_1_AC_joint_XX=4548;gnomADv4_1_AC_joint_XY=4544;gnomADv4_1_AF_grpmax_joint=0.141947;gnomADv4_1_AF_joint=0.0596846;gnomADv4_1_AF_joint_XX=0.058417;gnomADv4_1_AF_joint_XY=0.0610097;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152334;gnomADv4_1_AN_joint_XX=77854;gnomADv4_1_AN_joint_XY=74480;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=348;gnomADv4_1_nhomalt_joint_XX=163;gnomADv4_1_nhomalt_joint_XY=185;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28175040 chr22_28175040_G_T G T 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.672;CADD_Rawscore=-0.119226;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-11441C>A|||||||rs715527||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28175040G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-11441C>A|||||||rs715527||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28175040G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-11441C>A|||||||rs715527||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28175040G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-11441C>A|||||||rs715527||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28175040G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-11441C>A|||||||rs715527||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28175040G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-11441C>A|||||||rs715527||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28175040G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-11441C>A|||||||rs715527||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28175040G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-11441C>A|||||||rs715527||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28175040G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-11441C>A|||||||rs715527||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28175040G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-11441C>A|||||||rs715527||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28175040G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-11441C>A|||||||rs715527||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28175040G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-11441C>A|||||||rs715527||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28175040G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-11441C>A|||||||rs715527||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28175040G>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-20|1|3|-14;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=95758;gnomADv4_1_AC_joint_XX=49115;gnomADv4_1_AC_joint_XY=46643;gnomADv4_1_AF_grpmax_joint=0.804915;gnomADv4_1_AF_joint=0.636401;gnomADv4_1_AF_joint_XX=0.637692;gnomADv4_1_AF_joint_XY=0.635048;gnomADv4_1_AN_grpmax_joint=41136;gnomADv4_1_AN_joint=150468;gnomADv4_1_AN_joint_XX=77020;gnomADv4_1_AN_joint_XY=73448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31462;gnomADv4_1_nhomalt_joint_XX=16223;gnomADv4_1_nhomalt_joint_XY=15239;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28178301 chr22_28178301_C_CAA;chr22_28178301_C_CA C CA 45 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=34;CADDIndel_PHREDscore=0.443;CADDIndel_Rawscore=-0.223301;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-14703dup|||||||rs71194755||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28178317dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-14703dup|||||||rs71194755||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28178317dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28178317dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28178317dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28178317dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28178317dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28178317dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28178317dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28178317dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28178317dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28178317dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28178317dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28178317dup|||||||||||||;SpliceAI=CA|TTC28|0.00|0.00|0.00|0.00|-11|-14|0|41;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=85054;gnomADv4_1_AC_joint_XX=44466;gnomADv4_1_AC_joint_XY=40588;gnomADv4_1_AF_grpmax_joint=0.659278;gnomADv4_1_AF_joint=0.619954;gnomADv4_1_AF_joint_XX=0.62086;gnomADv4_1_AF_joint_XY=0.618965;gnomADv4_1_AN_grpmax_joint=64554;gnomADv4_1_AN_joint=137194;gnomADv4_1_AN_joint_XX=71620;gnomADv4_1_AN_joint_XY=65574;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26501;gnomADv4_1_nhomalt_joint_XX=13868;gnomADv4_1_nhomalt_joint_XY=12633;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28178301 chr22_28178301_C_CAA;chr22_28178301_C_CA C CAA 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=45;CADDIndel_PHREDscore=0.415;CADDIndel_Rawscore=-0.240015;CSQ=AA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-14704_934-14703dup|||||||rs71194755||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28178316_28178317dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-14704_553-14703dup|||||||rs71194755||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28178316_28178317dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-14704_934-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28178316_28178317dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-14704_934-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28178316_28178317dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-14704_580-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28178316_28178317dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-14704_580-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28178316_28178317dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-14704_856-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28178316_28178317dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-14704_934-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28178316_28178317dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-14704_934-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28178316_28178317dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-14704_934-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28178316_28178317dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-14704_844-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28178316_28178317dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-14704_856-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28178316_28178317dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-14704_628-14703dup|||||||rs71194755||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28178316_28178317dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37741;gnomADv4_1_AC_joint_XX=19731;gnomADv4_1_AC_joint_XY=18010;gnomADv4_1_AF_grpmax_joint=0.356563;gnomADv4_1_AF_joint=0.275241;gnomADv4_1_AF_joint_XX=0.27565;gnomADv4_1_AF_joint_XY=0.274794;gnomADv4_1_AN_grpmax_joint=4190;gnomADv4_1_AN_joint=137120;gnomADv4_1_AN_joint_XX=71580;gnomADv4_1_AN_joint_XY=65540;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5279;gnomADv4_1_nhomalt_joint_XX=2741;gnomADv4_1_nhomalt_joint_XY=2538;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28178444 chr22_28178444_G_A G A 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.534;CADD_Rawscore=-0.17681;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-14845C>T|||||||rs77109182||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28178444G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-14845C>T|||||||rs77109182||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28178444G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-14845C>T|||||||rs77109182||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28178444G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-14845C>T|||||||rs77109182||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28178444G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-14845C>T|||||||rs77109182||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28178444G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-14845C>T|||||||rs77109182||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28178444G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-14845C>T|||||||rs77109182||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28178444G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-14845C>T|||||||rs77109182||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28178444G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-14845C>T|||||||rs77109182||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28178444G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-14845C>T|||||||rs77109182||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28178444G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-14845C>T|||||||rs77109182||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28178444G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-14845C>T|||||||rs77109182||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28178444G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-14845C>T|||||||rs77109182||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28178444G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-5|-9|-5|35;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10040;gnomADv4_1_AC_joint_XX=4990;gnomADv4_1_AC_joint_XY=5050;gnomADv4_1_AF_grpmax_joint=0.219332;gnomADv4_1_AF_joint=0.0659918;gnomADv4_1_AF_joint_XX=0.0641619;gnomADv4_1_AF_joint_XY=0.0679056;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152140;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=488;gnomADv4_1_nhomalt_joint_XX=228;gnomADv4_1_nhomalt_joint_XY=260;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28179555 chr22_28179555_A_G A G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.886;CADD_Rawscore=0.26346;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-15956T>C|||||||rs5762511||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28179555A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-15956T>C|||||||rs5762511||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28179555A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-15956T>C|||||||rs5762511||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28179555A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-15956T>C|||||||rs5762511||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28179555A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-15956T>C|||||||rs5762511||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28179555A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-15956T>C|||||||rs5762511||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28179555A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-15956T>C|||||||rs5762511||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28179555A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-15956T>C|||||||rs5762511||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28179555A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-15956T>C|||||||rs5762511||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28179555A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-15956T>C|||||||rs5762511||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28179555A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-15956T>C|||||||rs5762511||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28179555A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-15956T>C|||||||rs5762511||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28179555A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-15956T>C|||||||rs5762511||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28179555A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|19|-23|11|37;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=131571;gnomADv4_1_AC_joint_XX=67542;gnomADv4_1_AC_joint_XY=64029;gnomADv4_1_AF_grpmax_joint=0.941402;gnomADv4_1_AF_joint=0.864529;gnomADv4_1_AF_joint_XX=0.868328;gnomADv4_1_AF_joint_XY=0.860559;gnomADv4_1_AN_grpmax_joint=41554;gnomADv4_1_AN_joint=152188;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=57137;gnomADv4_1_nhomalt_joint_XX=29434;gnomADv4_1_nhomalt_joint_XY=27703;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28186824 chr22_28186824_G_A G A 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=15.66;CADD_Rawscore=1.77243;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-23225C>T|||||||rs28720063||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28186824G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-23225C>T|||||||rs28720063||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28186824G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-23225C>T|||||||rs28720063||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28186824G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-23225C>T|||||||rs28720063||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28186824G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-23225C>T|||||||rs28720063||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28186824G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-23225C>T|||||||rs28720063||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28186824G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-23225C>T|||||||rs28720063||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28186824G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-23225C>T|||||||rs28720063||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28186824G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-23225C>T|||||||rs28720063||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28186824G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-23225C>T|||||||rs28720063||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28186824G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-23225C>T|||||||rs28720063||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28186824G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-23225C>T|||||||rs28720063||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28186824G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-23225C>T|||||||rs28720063||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28186824G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-46|-21|-44|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6035;gnomADv4_1_AC_joint_XX=2923;gnomADv4_1_AC_joint_XY=3112;gnomADv4_1_AF_grpmax_joint=0.132108;gnomADv4_1_AF_joint=0.0396398;gnomADv4_1_AF_joint_XX=0.0375717;gnomADv4_1_AF_joint_XY=0.041801;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152246;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=201;gnomADv4_1_nhomalt_joint_XX=84;gnomADv4_1_nhomalt_joint_XY=117;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28187714 chr22_28187714_C_G C G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=14.42;CADD_Rawscore=1.54032;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-24115G>C|||||||rs2064359||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28187714C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-24115G>C|||||||rs2064359||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28187714C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-24115G>C|||||||rs2064359||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28187714C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-24115G>C|||||||rs2064359||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28187714C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-24115G>C|||||||rs2064359||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28187714C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-24115G>C|||||||rs2064359||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28187714C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-24115G>C|||||||rs2064359||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28187714C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-24115G>C|||||||rs2064359||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28187714C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-24115G>C|||||||rs2064359||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28187714C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-24115G>C|||||||rs2064359||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28187714C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-24115G>C|||||||rs2064359||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28187714C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-24115G>C|||||||rs2064359||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28187714C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-24115G>C|||||||rs2064359||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28187714C>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-13|15|-11|-34;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152208;gnomADv4_1_AC_joint_XX=77788;gnomADv4_1_AC_joint_XY=74420;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999068;gnomADv4_1_AF_joint_XX=0.999101;gnomADv4_1_AF_joint_XY=0.999033;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152350;gnomADv4_1_AN_joint_XX=77858;gnomADv4_1_AN_joint_XY=74492;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=76036;gnomADv4_1_nhomalt_joint_XX=38859;gnomADv4_1_nhomalt_joint_XY=37177;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28187750 chr22_28187750_C_T C T 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=17.35;CADD_Rawscore=2.1298;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-24151G>A|||||||rs7284814||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28187750C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-24151G>A|||||||rs7284814||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28187750C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-24151G>A|||||||rs7284814||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28187750C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-24151G>A|||||||rs7284814||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28187750C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-24151G>A|||||||rs7284814||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28187750C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-24151G>A|||||||rs7284814||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28187750C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-24151G>A|||||||rs7284814||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28187750C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-24151G>A|||||||rs7284814||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28187750C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-24151G>A|||||||rs7284814||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28187750C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-24151G>A|||||||rs7284814||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28187750C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-24151G>A|||||||rs7284814||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28187750C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-24151G>A|||||||rs7284814||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28187750C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-24151G>A|||||||rs7284814||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28187750C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-21|23|41|-47;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36029;gnomADv4_1_AC_joint_XX=18638;gnomADv4_1_AC_joint_XY=17391;gnomADv4_1_AF_grpmax_joint=0.257835;gnomADv4_1_AF_joint=0.236902;gnomADv4_1_AF_joint_XX=0.239754;gnomADv4_1_AF_joint_XY=0.23392;gnomADv4_1_AN_grpmax_joint=41480;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4456;gnomADv4_1_nhomalt_joint_XX=2353;gnomADv4_1_nhomalt_joint_XY=2103;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28188929 chr22_28188929_G_T G T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=9.245;CADD_Rawscore=0.898676;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-25330C>A|||||||rs4822954||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28188929G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-25330C>A|||||||rs4822954||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28188929G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-25330C>A|||||||rs4822954||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28188929G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-25330C>A|||||||rs4822954||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28188929G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-25330C>A|||||||rs4822954||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28188929G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-25330C>A|||||||rs4822954||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28188929G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-25330C>A|||||||rs4822954||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28188929G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-25330C>A|||||||rs4822954||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28188929G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-25330C>A|||||||rs4822954||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28188929G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-25330C>A|||||||rs4822954||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28188929G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-25330C>A|||||||rs4822954||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28188929G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-25330C>A|||||||rs4822954||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28188929G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-25330C>A|||||||rs4822954||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28188929G>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-33|31|13|-9;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46761;gnomADv4_1_AC_joint_XX=23944;gnomADv4_1_AC_joint_XY=22817;gnomADv4_1_AF_grpmax_joint=0.441108;gnomADv4_1_AF_joint=0.307812;gnomADv4_1_AF_joint_XX=0.308271;gnomADv4_1_AF_joint_XY=0.307333;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151914;gnomADv4_1_AN_joint_XX=77672;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7423;gnomADv4_1_nhomalt_joint_XX=3871;gnomADv4_1_nhomalt_joint_XY=3552;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28190686 chr22_28190686_G_A G A 21 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=21;CADD_PHREDscore=6.465;CADD_Rawscore=0.601028;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-27087C>T|||||||rs8140229||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28190686G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-27087C>T|||||||rs8140229||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28190686G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-27087C>T|||||||rs8140229||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28190686G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-27087C>T|||||||rs8140229||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28190686G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-27087C>T|||||||rs8140229||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28190686G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-27087C>T|||||||rs8140229||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28190686G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-27087C>T|||||||rs8140229||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28190686G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-27087C>T|||||||rs8140229||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28190686G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-27087C>T|||||||rs8140229||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28190686G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-27087C>T|||||||rs8140229||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28190686G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-27087C>T|||||||rs8140229||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28190686G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-27087C>T|||||||rs8140229||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28190686G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-27087C>T|||||||rs8140229||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28190686G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-22|13|15|-16;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36288;gnomADv4_1_AC_joint_XX=18768;gnomADv4_1_AC_joint_XY=17520;gnomADv4_1_AF_grpmax_joint=0.260702;gnomADv4_1_AF_joint=0.238746;gnomADv4_1_AF_joint_XX=0.241563;gnomADv4_1_AF_joint_XY=0.235801;gnomADv4_1_AN_grpmax_joint=41442;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4531;gnomADv4_1_nhomalt_joint_XX=2396;gnomADv4_1_nhomalt_joint_XY=2135;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28192665 chr22_28192665_T_C T C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.175;CADD_Rawscore=0.024216;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-29066A>G|||||||rs28865637||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28192665T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-29066A>G|||||||rs28865637||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28192665T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-29066A>G|||||||rs28865637||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28192665T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-29066A>G|||||||rs28865637||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28192665T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-29066A>G|||||||rs28865637||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28192665T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-29066A>G|||||||rs28865637||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28192665T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-29066A>G|||||||rs28865637||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28192665T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-29066A>G|||||||rs28865637||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28192665T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-29066A>G|||||||rs28865637||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28192665T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-29066A>G|||||||rs28865637||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28192665T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-29066A>G|||||||rs28865637||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28192665T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-29066A>G|||||||rs28865637||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28192665T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-29066A>G|||||||rs28865637||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28192665T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-1|-14|1|-18;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41808;gnomADv4_1_AC_joint_XX=21469;gnomADv4_1_AC_joint_XY=20339;gnomADv4_1_AF_grpmax_joint=0.416667;gnomADv4_1_AF_joint=0.275201;gnomADv4_1_AF_joint_XX=0.276285;gnomADv4_1_AF_joint_XY=0.274066;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=151918;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74212;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7026;gnomADv4_1_nhomalt_joint_XX=3677;gnomADv4_1_nhomalt_joint_XY=3349;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28193702 chr22_28193702_A_G A G 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=2.014;CADD_Rawscore=0.165817;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-30103T>C|||||||rs150729865||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28193702A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-30103T>C|||||||rs150729865||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28193702A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-30103T>C|||||||rs150729865||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28193702A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-30103T>C|||||||rs150729865||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28193702A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-30103T>C|||||||rs150729865||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28193702A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-30103T>C|||||||rs150729865||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28193702A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-30103T>C|||||||rs150729865||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28193702A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-30103T>C|||||||rs150729865||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28193702A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-30103T>C|||||||rs150729865||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28193702A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-30103T>C|||||||rs150729865||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28193702A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-30103T>C|||||||rs150729865||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28193702A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-30103T>C|||||||rs150729865||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28193702A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-30103T>C|||||||rs150729865||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28193702A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|39|34|-2|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3422;gnomADv4_1_AC_joint_XX=1806;gnomADv4_1_AC_joint_XY=1616;gnomADv4_1_AF_grpmax_joint=0.0952381;gnomADv4_1_AF_joint=0.0224691;gnomADv4_1_AF_joint_XX=0.0232104;gnomADv4_1_AF_joint_XY=0.0216948;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152298;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74488;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=78;gnomADv4_1_nhomalt_joint_XX=42;gnomADv4_1_nhomalt_joint_XY=36;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28194287 chr22_28194287_G_A G A 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=1.753;CADD_Rawscore=0.129035;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-30688C>T|||||||rs8138645||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28194287G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-30688C>T|||||||rs8138645||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28194287G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-30688C>T|||||||rs8138645||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28194287G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-30688C>T|||||||rs8138645||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28194287G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-30688C>T|||||||rs8138645||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28194287G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-30688C>T|||||||rs8138645||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28194287G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-30688C>T|||||||rs8138645||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28194287G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-30688C>T|||||||rs8138645||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28194287G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-30688C>T|||||||rs8138645||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28194287G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-30688C>T|||||||rs8138645||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28194287G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-30688C>T|||||||rs8138645||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28194287G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-30688C>T|||||||rs8138645||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28194287G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-30688C>T|||||||rs8138645||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28194287G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-24|19|32|-31;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44695;gnomADv4_1_AC_joint_XX=22884;gnomADv4_1_AC_joint_XY=21811;gnomADv4_1_AF_grpmax_joint=0.358571;gnomADv4_1_AF_joint=0.316519;gnomADv4_1_AF_joint_XX=0.31648;gnomADv4_1_AF_joint_XY=0.31656;gnomADv4_1_AN_grpmax_joint=63240;gnomADv4_1_AN_joint=141208;gnomADv4_1_AN_joint_XX=72308;gnomADv4_1_AN_joint_XY=68900;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6845;gnomADv4_1_nhomalt_joint_XX=3532;gnomADv4_1_nhomalt_joint_XY=3313;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28197116 chr22_28197116_T_C T C 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=5.201;CADD_Rawscore=0.474836;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-33517A>G|||||||rs143687692||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28197116T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-33517A>G|||||||rs143687692||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28197116T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-33517A>G|||||||rs143687692||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28197116T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-33517A>G|||||||rs143687692||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28197116T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-33517A>G|||||||rs143687692||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28197116T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-33517A>G|||||||rs143687692||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28197116T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-33517A>G|||||||rs143687692||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28197116T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-33517A>G|||||||rs143687692||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28197116T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-33517A>G|||||||rs143687692||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28197116T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-33517A>G|||||||rs143687692||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28197116T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-33517A>G|||||||rs143687692||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28197116T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-33517A>G|||||||rs143687692||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28197116T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-33517A>G|||||||rs143687692||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28197116T>C|||1||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-1|-3|-44|10;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9063;gnomADv4_1_AC_joint_XX=4537;gnomADv4_1_AC_joint_XY=4526;gnomADv4_1_AF_grpmax_joint=0.138554;gnomADv4_1_AF_joint=0.0596226;gnomADv4_1_AF_joint_XX=0.0583973;gnomADv4_1_AF_joint_XY=0.0609037;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=356;gnomADv4_1_nhomalt_joint_XX=168;gnomADv4_1_nhomalt_joint_XY=188;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28199383 chr22_28199383_TTATATATATATA_T;chr22_28199383_TTATATATATATATA_T;chr22_28199383_TTATATATATA_T TTATATATATATA T 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=1.062;CADDIndel_Rawscore=-0.002104;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-35796_934-35785del|||||||rs34398046||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||TATATATATATA|TATATATATATA||||chr22:g.28199411_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-35796_553-35785del|||||||rs34398046||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||TATATATATATA|TATATATATATA||||chr22:g.28199411_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-35796_934-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||TATATATATATA|TATATATATATA||||chr22:g.28199411_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-35796_934-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||TATATATATATA|TATATATATATA||||chr22:g.28199411_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-35796_580-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||TATATATATATA|TATATATATATA||||chr22:g.28199411_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-35796_580-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||TATATATATATA|TATATATATATA||||chr22:g.28199411_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-35796_856-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||TATATATATATA|TATATATATATA||||chr22:g.28199411_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-35796_934-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||TATATATATATA|TATATATATATA||||chr22:g.28199411_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-35796_934-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||TATATATATATA|TATATATATATA||||chr22:g.28199411_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-35796_934-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||TATATATATATA|TATATATATATA||||chr22:g.28199411_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-35796_844-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||TATATATATATA|TATATATATATA||||chr22:g.28199411_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-35796_856-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||TATATATATATA|TATATATATATA||||chr22:g.28199411_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-35796_628-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||TATATATATATA|TATATATATATA||||chr22:g.28199411_28199422del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36552;gnomADv4_1_AC_joint_XX=19429;gnomADv4_1_AC_joint_XY=17123;gnomADv4_1_AF_grpmax_joint=0.350877;gnomADv4_1_AF_joint=0.308701;gnomADv4_1_AF_joint_XX=0.309497;gnomADv4_1_AF_joint_XY=0.307802;gnomADv4_1_AN_grpmax_joint=228;gnomADv4_1_AN_joint=118406;gnomADv4_1_AN_joint_XX=62776;gnomADv4_1_AN_joint_XY=55630;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5688;gnomADv4_1_nhomalt_joint_XX=3014;gnomADv4_1_nhomalt_joint_XY=2674;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28199383 chr22_28199383_TTATATATATATA_T;chr22_28199383_TTATATATATATATA_T;chr22_28199383_TTATATATATA_T TTATATATATATATA T 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=1.026;CADDIndel_Rawscore=-0.011043;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-35798_934-35785del|||||||rs34398046||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||TATATATATATATA|TATATATATATATA||||chr22:g.28199409_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-35798_553-35785del|||||||rs34398046||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||TATATATATATATA|TATATATATATATA||||chr22:g.28199409_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-35798_934-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||TATATATATATATA|TATATATATATATA||||chr22:g.28199409_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-35798_934-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||TATATATATATATA|TATATATATATATA||||chr22:g.28199409_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-35798_580-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||TATATATATATATA|TATATATATATATA||||chr22:g.28199409_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-35798_580-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||TATATATATATATA|TATATATATATATA||||chr22:g.28199409_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-35798_856-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||TATATATATATATA|TATATATATATATA||||chr22:g.28199409_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-35798_934-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||TATATATATATATA|TATATATATATATA||||chr22:g.28199409_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-35798_934-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||TATATATATATATA|TATATATATATATA||||chr22:g.28199409_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-35798_934-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||TATATATATATATA|TATATATATATATA||||chr22:g.28199409_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-35798_844-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||TATATATATATATA|TATATATATATATA||||chr22:g.28199409_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-35798_856-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||TATATATATATATA|TATATATATATATA||||chr22:g.28199409_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-35798_628-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||TATATATATATATA|TATATATATATATA||||chr22:g.28199409_28199422del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8921;gnomADv4_1_AC_joint_XX=4532;gnomADv4_1_AC_joint_XY=4389;gnomADv4_1_AF_grpmax_joint=0.167995;gnomADv4_1_AF_joint=0.075303;gnomADv4_1_AF_joint_XX=0.072161;gnomADv4_1_AF_joint_XY=0.0788481;gnomADv4_1_AN_grpmax_joint=3512;gnomADv4_1_AN_joint=118468;gnomADv4_1_AN_joint_XX=62804;gnomADv4_1_AN_joint_XY=55664;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=432;gnomADv4_1_nhomalt_joint_XX=202;gnomADv4_1_nhomalt_joint_XY=230;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28199383 chr22_28199383_TTATATATATATA_T;chr22_28199383_TTATATATATATATA_T;chr22_28199383_TTATATATATA_T TTATATATATA T 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADDIndel_PHREDscore=1.1;CADDIndel_Rawscore=0.007021;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-35794_934-35785del|||||||rs34398046||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||TATATATATA|TATATATATA||||chr22:g.28199413_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-35794_553-35785del|||||||rs34398046||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||TATATATATA|TATATATATA||||chr22:g.28199413_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-35794_934-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||TATATATATA|TATATATATA||||chr22:g.28199413_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-35794_934-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||TATATATATA|TATATATATA||||chr22:g.28199413_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-35794_580-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||TATATATATA|TATATATATA||||chr22:g.28199413_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-35794_580-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||TATATATATA|TATATATATA||||chr22:g.28199413_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-35794_856-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||TATATATATA|TATATATATA||||chr22:g.28199413_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-35794_934-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||TATATATATA|TATATATATA||||chr22:g.28199413_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-35794_934-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||TATATATATA|TATATATATA||||chr22:g.28199413_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-35794_934-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||TATATATATA|TATATATATA||||chr22:g.28199413_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-35794_844-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||TATATATATA|TATATATATA||||chr22:g.28199413_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-35794_856-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||TATATATATA|TATATATATA||||chr22:g.28199413_28199422del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-35794_628-35785del|||||||rs34398046||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||TATATATATA|TATATATATA||||chr22:g.28199413_28199422del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32018;gnomADv4_1_AC_joint_XX=16830;gnomADv4_1_AC_joint_XY=15188;gnomADv4_1_AF_grpmax_joint=0.318463;gnomADv4_1_AF_joint=0.270747;gnomADv4_1_AF_joint_XX=0.268455;gnomADv4_1_AF_joint_XY=0.273333;gnomADv4_1_AN_grpmax_joint=11320;gnomADv4_1_AN_joint=118258;gnomADv4_1_AN_joint_XX=62692;gnomADv4_1_AN_joint_XY=55566;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4300;gnomADv4_1_nhomalt_joint_XX=2234;gnomADv4_1_nhomalt_joint_XY=2066;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28199530 chr22_28199530_C_CATAT;chr22_28199530_C_CAT;chr22_28199530_C_CATATAT C CATAT 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.359;CADDIndel_Rawscore=-0.276355;CSQ=ATAT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-35935_934-35932dup|||||||rs10689151||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28199546_28199549dup|||||||||||||,ATAT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-35935_553-35932dup|||||||rs10689151||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28199546_28199549dup|||||||||||||,ATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-35935_934-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28199546_28199549dup|||||||||||||,ATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-35935_934-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28199546_28199549dup|||||||||||||,ATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-35935_580-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28199546_28199549dup|||||||||||||,ATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-35935_580-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28199546_28199549dup|||||||||||||,ATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-35935_856-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28199546_28199549dup|||||||||||||,ATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-35935_934-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28199546_28199549dup|||||||||||||,ATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-35935_934-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28199546_28199549dup|||||||||||||,ATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-35935_934-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28199546_28199549dup|||||||||||||,ATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-35935_844-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28199546_28199549dup|||||||||||||,ATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-35935_856-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28199546_28199549dup|||||||||||||,ATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-35935_628-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28199546_28199549dup|||||||||||||;TYPE=INDEL;VEP_Allele=ATAT,ATAT,ATAT,ATAT,ATAT,ATAT,ATAT,ATAT,ATAT,ATAT,ATAT,ATAT,ATAT;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23335;gnomADv4_1_AC_joint_XX=12054;gnomADv4_1_AC_joint_XY=11281;gnomADv4_1_AF_grpmax_joint=0.291298;gnomADv4_1_AF_joint=0.16817;gnomADv4_1_AF_joint_XX=0.167752;gnomADv4_1_AF_joint_XY=0.16862;gnomADv4_1_AN_grpmax_joint=4298;gnomADv4_1_AN_joint=138758;gnomADv4_1_AN_joint_XX=71856;gnomADv4_1_AN_joint_XY=66902;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2388;gnomADv4_1_nhomalt_joint_XX=1229;gnomADv4_1_nhomalt_joint_XY=1159;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28199530 chr22_28199530_C_CATAT;chr22_28199530_C_CAT;chr22_28199530_C_CATATAT C CAT 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.371;CADDIndel_Rawscore=-0.267804;CSQ=AT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-35933_934-35932dup|||||||rs10689151||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28199548_28199549dup|||||||||||||,AT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-35933_553-35932dup|||||||rs10689151||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28199548_28199549dup|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-35933_934-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28199548_28199549dup|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-35933_934-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28199548_28199549dup|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-35933_580-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28199548_28199549dup|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-35933_580-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28199548_28199549dup|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-35933_856-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28199548_28199549dup|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-35933_934-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28199548_28199549dup|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-35933_934-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28199548_28199549dup|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-35933_934-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28199548_28199549dup|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-35933_844-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28199548_28199549dup|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-35933_856-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28199548_28199549dup|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-35933_628-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28199548_28199549dup|||||||||||||;TYPE=INDEL;VEP_Allele=AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58537;gnomADv4_1_AC_joint_XX=30349;gnomADv4_1_AC_joint_XY=28188;gnomADv4_1_AF_grpmax_joint=0.491078;gnomADv4_1_AF_joint=0.421748;gnomADv4_1_AF_joint_XX=0.422206;gnomADv4_1_AF_joint_XY=0.421257;gnomADv4_1_AN_grpmax_joint=36652;gnomADv4_1_AN_joint=138796;gnomADv4_1_AN_joint_XX=71882;gnomADv4_1_AN_joint_XY=66914;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=12740;gnomADv4_1_nhomalt_joint_XX=6637;gnomADv4_1_nhomalt_joint_XY=6103;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28199530 chr22_28199530_C_CATAT;chr22_28199530_C_CAT;chr22_28199530_C_CATATAT C CATATAT 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=0.346;CADDIndel_Rawscore=-0.285946;CSQ=ATATAT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-35937_934-35932dup|||||||rs10689151||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28199544_28199549dup|||||||||||||,ATATAT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-35937_553-35932dup|||||||rs10689151||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28199544_28199549dup|||||||||||||,ATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-35937_934-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28199544_28199549dup|||||||||||||,ATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-35937_934-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28199544_28199549dup|||||||||||||,ATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-35937_580-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28199544_28199549dup|||||||||||||,ATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-35937_580-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28199544_28199549dup|||||||||||||,ATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-35937_856-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28199544_28199549dup|||||||||||||,ATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-35937_934-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28199544_28199549dup|||||||||||||,ATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-35937_934-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28199544_28199549dup|||||||||||||,ATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-35937_934-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28199544_28199549dup|||||||||||||,ATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-35937_844-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28199544_28199549dup|||||||||||||,ATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-35937_856-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28199544_28199549dup|||||||||||||,ATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-35937_628-35932dup|||||||rs10689151||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28199544_28199549dup|||||||||||||;TYPE=INDEL;VEP_Allele=ATATAT,ATATAT,ATATAT,ATATAT,ATATAT,ATATAT,ATATAT,ATATAT,ATATAT,ATATAT,ATATAT,ATATAT,ATATAT;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20927;gnomADv4_1_AC_joint_XX=11042;gnomADv4_1_AC_joint_XY=9885;gnomADv4_1_AF_grpmax_joint=0.246324;gnomADv4_1_AF_joint=0.15076;gnomADv4_1_AF_joint_XX=0.153604;gnomADv4_1_AF_joint_XY=0.147705;gnomADv4_1_AN_grpmax_joint=272;gnomADv4_1_AN_joint=138810;gnomADv4_1_AN_joint_XX=71886;gnomADv4_1_AN_joint_XY=66924;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1978;gnomADv4_1_nhomalt_joint_XX=1061;gnomADv4_1_nhomalt_joint_XY=917;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28201751 chr22_28201751_C_CA C CA 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=0.5;AF_XX=1.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=41;CADDIndel_PHREDscore=0.206;CADDIndel_Rawscore=-0.419287;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-38153dup|||||||rs34790960||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28201769dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-38153dup|||||||rs34790960||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28201769dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-38153dup|||||||rs34790960||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28201769dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-38153dup|||||||rs34790960||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28201769dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-38153dup|||||||rs34790960||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28201769dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-38153dup|||||||rs34790960||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28201769dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-38153dup|||||||rs34790960||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28201769dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-38153dup|||||||rs34790960||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28201769dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-38153dup|||||||rs34790960||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28201769dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-38153dup|||||||rs34790960||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28201769dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-38153dup|||||||rs34790960||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28201769dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-38153dup|||||||rs34790960||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28201769dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-38153dup|||||||rs34790960||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28201769dup|||||||||||||;SpliceAI=CA|TTC28|0.00|0.00|0.00|0.00|-15|-37|-1|11;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31313;gnomADv4_1_AC_joint_XX=16833;gnomADv4_1_AC_joint_XY=14480;gnomADv4_1_AF_grpmax_joint=0.44624;gnomADv4_1_AF_joint=0.386934;gnomADv4_1_AF_joint_XX=0.393773;gnomADv4_1_AF_joint_XY=0.379276;gnomADv4_1_AN_grpmax_joint=2846;gnomADv4_1_AN_joint=80926;gnomADv4_1_AN_joint_XX=42748;gnomADv4_1_AN_joint_XY=38178;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4209;gnomADv4_1_nhomalt_joint_XX=2269;gnomADv4_1_nhomalt_joint_XY=1940;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28207222 chr22_28207222_TG_T TG T 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=19;CADDIndel_PHREDscore=0.201;CADDIndel_Rawscore=-0.425776;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-43624del|||||||rs35343620||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28207224del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-43624del|||||||rs35343620||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28207224del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-43624del|||||||rs35343620||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28207224del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-43624del|||||||rs35343620||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28207224del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-43624del|||||||rs35343620||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28207224del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-43624del|||||||rs35343620||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28207224del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-43624del|||||||rs35343620||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28207224del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-43624del|||||||rs35343620||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28207224del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-43624del|||||||rs35343620||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28207224del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-43624del|||||||rs35343620||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28207224del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-43624del|||||||rs35343620||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28207224del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-43624del|||||||rs35343620||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28207224del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-43624del|||||||rs35343620||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28207224del|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-26|-10|35|21;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16109;gnomADv4_1_AC_joint_XX=8154;gnomADv4_1_AC_joint_XY=7955;gnomADv4_1_AF_grpmax_joint=0.274699;gnomADv4_1_AF_joint=0.147391;gnomADv4_1_AF_joint_XX=0.142488;gnomADv4_1_AF_joint_XY=0.152781;gnomADv4_1_AN_grpmax_joint=3320;gnomADv4_1_AN_joint=109294;gnomADv4_1_AN_joint_XX=57226;gnomADv4_1_AN_joint_XY=52068;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1165;gnomADv4_1_nhomalt_joint_XX=570;gnomADv4_1_nhomalt_joint_XY=595;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28207224 chr22_28207224_G_A;chr22_28207224_G_GA G GA 50 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=31;CADDIndel_PHREDscore=0.57;CADDIndel_Rawscore=-0.160362;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-43626dup|||||||rs71194756||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28207238dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-43626dup|||||||rs71194756||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28207238dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-43626dup|||||||rs71194756||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28207238dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-43626dup|||||||rs71194756||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28207238dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-43626dup|||||||rs71194756||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28207238dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-43626dup|||||||rs71194756||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28207238dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-43626dup|||||||rs71194756||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28207238dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-43626dup|||||||rs71194756||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28207238dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-43626dup|||||||rs71194756||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28207238dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-43626dup|||||||rs71194756||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28207238dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-43626dup|||||||rs71194756||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28207238dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-43626dup|||||||rs71194756||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28207238dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-43626dup|||||||rs71194756||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28207238dup|||||||||||||;SpliceAI=GA|TTC28|0.00|0.00|0.00|0.00|-28|-12|19|32;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4924;gnomADv4_1_AC_joint_XX=2648;gnomADv4_1_AC_joint_XY=2276;gnomADv4_1_AF_grpmax_joint=0.0894309;gnomADv4_1_AF_joint=0.0392263;gnomADv4_1_AF_joint_XX=0.0404819;gnomADv4_1_AF_joint_XY=0.0378601;gnomADv4_1_AN_grpmax_joint=246;gnomADv4_1_AN_joint=125528;gnomADv4_1_AN_joint_XX=65412;gnomADv4_1_AN_joint_XY=60116;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=115;gnomADv4_1_nhomalt_joint_XX=65;gnomADv4_1_nhomalt_joint_XY=50;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28207224 chr22_28207224_G_A;chr22_28207224_G_GA G A 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.75;AF_XX=.;AF_XY=0.75;AN=4;AN_XX=0;AN_XY=4;AQ=50;CADD_PHREDscore=0.402;CADD_Rawscore=-0.247564;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-43625C>T|||||||rs5762520||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28207224G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-43625C>T|||||||rs5762520||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28207224G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-43625C>T|||||||rs5762520||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28207224G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-43625C>T|||||||rs5762520||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28207224G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-43625C>T|||||||rs5762520||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28207224G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-43625C>T|||||||rs5762520||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28207224G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-43625C>T|||||||rs5762520||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28207224G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-43625C>T|||||||rs5762520||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28207224G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-43625C>T|||||||rs5762520||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28207224G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-43625C>T|||||||rs5762520||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28207224G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-43625C>T|||||||rs5762520||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28207224G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-43625C>T|||||||rs5762520||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28207224G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-43625C>T|||||||rs5762520||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28207224G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|4|-12|33|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70743;gnomADv4_1_AC_joint_XX=36986;gnomADv4_1_AC_joint_XY=33757;gnomADv4_1_AF_grpmax_joint=0.649742;gnomADv4_1_AF_joint=0.564418;gnomADv4_1_AF_joint_XX=0.566141;gnomADv4_1_AF_joint_XY=0.562542;gnomADv4_1_AN_grpmax_joint=3880;gnomADv4_1_AN_joint=125338;gnomADv4_1_AN_joint_XX=65330;gnomADv4_1_AN_joint_XY=60008;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=18002;gnomADv4_1_nhomalt_joint_XX=9469;gnomADv4_1_nhomalt_joint_XY=8533;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28207242 chr22_28207242_C_CA C CA 43 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=1.536;CADDIndel_Rawscore=0.094333;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-43644dup|||||||rs146874032||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28207251dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-43644dup|||||||rs146874032||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28207251dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-43644dup|||||||rs146874032||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28207251dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-43644dup|||||||rs146874032||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28207251dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-43644dup|||||||rs146874032||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28207251dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-43644dup|||||||rs146874032||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28207251dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-43644dup|||||||rs146874032||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28207251dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-43644dup|||||||rs146874032||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28207251dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-43644dup|||||||rs146874032||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28207251dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-43644dup|||||||rs146874032||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28207251dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-43644dup|||||||rs146874032||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28207251dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-43644dup|||||||rs146874032||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28207251dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-43644dup|||||||rs146874032||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28207251dup|||||||||||||;SpliceAI=CA|TTC28|0.00|0.00|0.00|0.00|29|-30|0|1;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38384;gnomADv4_1_AC_joint_XX=20136;gnomADv4_1_AC_joint_XY=18248;gnomADv4_1_AF_grpmax_joint=0.372263;gnomADv4_1_AF_joint=0.272204;gnomADv4_1_AF_joint_XX=0.275957;gnomADv4_1_AF_joint_XY=0.268179;gnomADv4_1_AN_grpmax_joint=274;gnomADv4_1_AN_joint=141012;gnomADv4_1_AN_joint_XX=72968;gnomADv4_1_AN_joint_XY=68044;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6148;gnomADv4_1_nhomalt_joint_XX=3290;gnomADv4_1_nhomalt_joint_XY=2858;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28208595 chr22_28208595_C_T C T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.525;CADD_Rawscore=0.322945;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-44996G>A|||||||rs9613574||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28208595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-44996G>A|||||||rs9613574||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28208595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-44996G>A|||||||rs9613574||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28208595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-44996G>A|||||||rs9613574||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28208595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-44996G>A|||||||rs9613574||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28208595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-44996G>A|||||||rs9613574||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28208595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-44996G>A|||||||rs9613574||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28208595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-44996G>A|||||||rs9613574||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28208595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-44996G>A|||||||rs9613574||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28208595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-44996G>A|||||||rs9613574||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28208595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-44996G>A|||||||rs9613574||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28208595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-44996G>A|||||||rs9613574||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28208595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-44996G>A|||||||rs9613574||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28208595C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-21|-40|41|0;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33572;gnomADv4_1_AC_joint_XX=17088;gnomADv4_1_AC_joint_XY=16484;gnomADv4_1_AF_grpmax_joint=0.323982;gnomADv4_1_AF_joint=0.220764;gnomADv4_1_AF_joint_XX=0.219821;gnomADv4_1_AF_joint_XY=0.22175;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4680;gnomADv4_1_nhomalt_joint_XX=2347;gnomADv4_1_nhomalt_joint_XY=2333;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28212219 chr22_28212219_A_G A G 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=1.022;CADD_Rawscore=-0.012215;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-48620T>C|||||||rs5752707||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28212219A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-48620T>C|||||||rs5752707||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28212219A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-48620T>C|||||||rs5752707||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28212219A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-48620T>C|||||||rs5752707||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28212219A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-48620T>C|||||||rs5752707||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28212219A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-48620T>C|||||||rs5752707||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28212219A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-48620T>C|||||||rs5752707||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28212219A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-48620T>C|||||||rs5752707||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28212219A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-48620T>C|||||||rs5752707||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28212219A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-48620T>C|||||||rs5752707||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28212219A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-48620T>C|||||||rs5752707||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28212219A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-48620T>C|||||||rs5752707||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28212219A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-48620T>C|||||||rs5752707||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28212219A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|28|-25|-24|34;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17906;gnomADv4_1_AC_joint_XX=9078;gnomADv4_1_AC_joint_XY=8828;gnomADv4_1_AF_grpmax_joint=0.226027;gnomADv4_1_AF_joint=0.118255;gnomADv4_1_AF_joint_XX=0.117196;gnomADv4_1_AF_joint_XY=0.119365;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151418;gnomADv4_1_AN_joint_XX=77460;gnomADv4_1_AN_joint_XY=73958;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1161;gnomADv4_1_nhomalt_joint_XX=572;gnomADv4_1_nhomalt_joint_XY=589;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28214041 chr22_28214041_G_A G A 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.224;CADD_Rawscore=-0.397094;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-50442C>T|||||||rs134168||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28214041G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-50442C>T|||||||rs134168||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28214041G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-50442C>T|||||||rs134168||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28214041G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-50442C>T|||||||rs134168||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28214041G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-50442C>T|||||||rs134168||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28214041G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-50442C>T|||||||rs134168||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28214041G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-50442C>T|||||||rs134168||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28214041G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-50442C>T|||||||rs134168||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28214041G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-50442C>T|||||||rs134168||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28214041G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-50442C>T|||||||rs134168||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28214041G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-50442C>T|||||||rs134168||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28214041G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-50442C>T|||||||rs134168||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28214041G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-50442C>T|||||||rs134168||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28214041G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|23|-35|2|-2;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=114998;gnomADv4_1_AC_joint_XX=58629;gnomADv4_1_AC_joint_XY=56369;gnomADv4_1_AF_grpmax_joint=0.84817;gnomADv4_1_AF_joint=0.757363;gnomADv4_1_AF_joint_XX=0.755217;gnomADv4_1_AF_joint_XY=0.759608;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=151840;gnomADv4_1_AN_joint_XX=77632;gnomADv4_1_AN_joint_XY=74208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=43743;gnomADv4_1_nhomalt_joint_XX=22264;gnomADv4_1_nhomalt_joint_XY=21479;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28216383 chr22_28216383_G_C G C 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.254;CADD_Rawscore=0.041175;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-52784C>G|||||||rs78646982||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28216383G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-52784C>G|||||||rs78646982||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28216383G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-52784C>G|||||||rs78646982||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28216383G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-52784C>G|||||||rs78646982||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28216383G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-52784C>G|||||||rs78646982||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28216383G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-52784C>G|||||||rs78646982||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28216383G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-52784C>G|||||||rs78646982||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28216383G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-52784C>G|||||||rs78646982||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28216383G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-52784C>G|||||||rs78646982||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28216383G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-52784C>G|||||||rs78646982||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28216383G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-52784C>G|||||||rs78646982||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28216383G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-52784C>G|||||||rs78646982||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28216383G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-52784C>G|||||||rs78646982||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28216383G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|39|3|4|-3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2299;gnomADv4_1_AC_joint_XX=1243;gnomADv4_1_AC_joint_XY=1056;gnomADv4_1_AF_grpmax_joint=0.0816327;gnomADv4_1_AF_joint=0.015099;gnomADv4_1_AF_joint_XX=0.0159748;gnomADv4_1_AF_joint_XY=0.0141836;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152262;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=46;gnomADv4_1_nhomalt_joint_XX=25;gnomADv4_1_nhomalt_joint_XY=21;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28216411 chr22_28216411_A_T A T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=6.612;CADD_Rawscore=0.616501;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-52812T>A|||||||rs134169||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28216411A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-52812T>A|||||||rs134169||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28216411A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-52812T>A|||||||rs134169||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28216411A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-52812T>A|||||||rs134169||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28216411A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-52812T>A|||||||rs134169||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28216411A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-52812T>A|||||||rs134169||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28216411A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-52812T>A|||||||rs134169||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28216411A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-52812T>A|||||||rs134169||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28216411A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-52812T>A|||||||rs134169||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28216411A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-52812T>A|||||||rs134169||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28216411A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-52812T>A|||||||rs134169||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28216411A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-52812T>A|||||||rs134169||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28216411A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-52812T>A|||||||rs134169||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28216411A>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|11|-25|12|8;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21237;gnomADv4_1_AC_joint_XX=10825;gnomADv4_1_AC_joint_XY=10412;gnomADv4_1_AF_grpmax_joint=0.270963;gnomADv4_1_AF_joint=0.139552;gnomADv4_1_AF_joint_XX=0.139175;gnomADv4_1_AF_joint_XY=0.139946;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1889;gnomADv4_1_nhomalt_joint_XX=947;gnomADv4_1_nhomalt_joint_XY=942;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28216657 chr22_28216657_T_C T C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.028;CADD_Rawscore=-0.010758;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-53058A>G|||||||rs134170||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28216657T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-53058A>G|||||||rs134170||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28216657T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-53058A>G|||||||rs134170||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28216657T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-53058A>G|||||||rs134170||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28216657T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-53058A>G|||||||rs134170||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28216657T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-53058A>G|||||||rs134170||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28216657T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-53058A>G|||||||rs134170||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28216657T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-53058A>G|||||||rs134170||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28216657T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-53058A>G|||||||rs134170||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28216657T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-53058A>G|||||||rs134170||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28216657T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-53058A>G|||||||rs134170||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28216657T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-53058A>G|||||||rs134170||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28216657T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-53058A>G|||||||rs134170||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28216657T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|29|3|-26|15;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22058;gnomADv4_1_AC_joint_XX=11178;gnomADv4_1_AC_joint_XY=10880;gnomADv4_1_AF_grpmax_joint=0.274749;gnomADv4_1_AF_joint=0.144989;gnomADv4_1_AF_joint_XX=0.143724;gnomADv4_1_AF_joint_XY=0.146311;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1976;gnomADv4_1_nhomalt_joint_XX=978;gnomADv4_1_nhomalt_joint_XY=998;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28219465 chr22_28219465_A_G A G 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.251;CADD_Rawscore=-0.367565;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-55866T>C|||||||rs134172||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28219465A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-55866T>C|||||||rs134172||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28219465A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-55866T>C|||||||rs134172||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28219465A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-55866T>C|||||||rs134172||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28219465A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-55866T>C|||||||rs134172||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28219465A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-55866T>C|||||||rs134172||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28219465A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-55866T>C|||||||rs134172||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28219465A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-55866T>C|||||||rs134172||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28219465A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-55866T>C|||||||rs134172||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28219465A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-55866T>C|||||||rs134172||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28219465A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-55866T>C|||||||rs134172||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28219465A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-55866T>C|||||||rs134172||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28219465A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-55866T>C|||||||rs134172||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28219465A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|33|15|-33|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=114867;gnomADv4_1_AC_joint_XX=58647;gnomADv4_1_AC_joint_XY=56220;gnomADv4_1_AF_grpmax_joint=0.851533;gnomADv4_1_AF_joint=0.759;gnomADv4_1_AF_joint_XX=0.757048;gnomADv4_1_AF_joint_XY=0.761046;gnomADv4_1_AN_grpmax_joint=4762;gnomADv4_1_AN_joint=151340;gnomADv4_1_AN_joint_XX=77468;gnomADv4_1_AN_joint_XY=73872;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=43779;gnomADv4_1_nhomalt_joint_XX=22323;gnomADv4_1_nhomalt_joint_XY=21456;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28220368 chr22_28220368_G_C G C 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=6.945;CADD_Rawscore=0.652164;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-56769C>G|||||||rs9613580||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28220368G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-56769C>G|||||||rs9613580||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28220368G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-56769C>G|||||||rs9613580||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28220368G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-56769C>G|||||||rs9613580||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28220368G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-56769C>G|||||||rs9613580||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28220368G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-56769C>G|||||||rs9613580||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28220368G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-56769C>G|||||||rs9613580||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28220368G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-56769C>G|||||||rs9613580||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28220368G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-56769C>G|||||||rs9613580||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28220368G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-56769C>G|||||||rs9613580||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28220368G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-56769C>G|||||||rs9613580||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28220368G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-56769C>G|||||||rs9613580||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28220368G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-56769C>G|||||||rs9613580||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28220368G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.01|0.00|1|-28|1|-28;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29039;gnomADv4_1_AC_joint_XX=14893;gnomADv4_1_AC_joint_XY=14146;gnomADv4_1_AF_grpmax_joint=0.258633;gnomADv4_1_AF_joint=0.190833;gnomADv4_1_AF_joint_XX=0.191481;gnomADv4_1_AF_joint_XY=0.190155;gnomADv4_1_AN_grpmax_joint=67996;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3456;gnomADv4_1_nhomalt_joint_XX=1774;gnomADv4_1_nhomalt_joint_XY=1682;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28222466 chr22_28222466_A_G A G 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.974;CADD_Rawscore=-0.024624;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-58867T>C|||||||rs134173||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28222466A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-58867T>C|||||||rs134173||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28222466A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-58867T>C|||||||rs134173||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28222466A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-58867T>C|||||||rs134173||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28222466A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-58867T>C|||||||rs134173||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28222466A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-58867T>C|||||||rs134173||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28222466A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-58867T>C|||||||rs134173||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28222466A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-58867T>C|||||||rs134173||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28222466A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-58867T>C|||||||rs134173||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28222466A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-58867T>C|||||||rs134173||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28222466A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-58867T>C|||||||rs134173||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28222466A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-58867T>C|||||||rs134173||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28222466A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-58867T>C|||||||rs134173||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28222466A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-22|-9|-22|-4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=79222;gnomADv4_1_AC_joint_XX=40412;gnomADv4_1_AC_joint_XY=38810;gnomADv4_1_AF_grpmax_joint=0.602368;gnomADv4_1_AF_joint=0.520909;gnomADv4_1_AF_joint_XX=0.519742;gnomADv4_1_AF_joint_XY=0.522131;gnomADv4_1_AN_grpmax_joint=15288;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=20957;gnomADv4_1_nhomalt_joint_XX=10686;gnomADv4_1_nhomalt_joint_XY=10271;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28223230 chr22_28223230_A_C A C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=4.901;CADD_Rawscore=0.446614;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-59631T>G|||||||rs134174||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28223230A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-59631T>G|||||||rs134174||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28223230A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-59631T>G|||||||rs134174||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28223230A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-59631T>G|||||||rs134174||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28223230A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-59631T>G|||||||rs134174||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28223230A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-59631T>G|||||||rs134174||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28223230A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-59631T>G|||||||rs134174||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28223230A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-59631T>G|||||||rs134174||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28223230A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-59631T>G|||||||rs134174||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28223230A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-59631T>G|||||||rs134174||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28223230A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-59631T>G|||||||rs134174||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28223230A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-59631T>G|||||||rs134174||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28223230A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-59631T>G|||||||rs134174||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28223230A>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F7GF|enhancer||||||||||rs134174|||||||||||||||||||||chr22:g.28223230A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|34|-6|7|19;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,ENSR22_9F7GF;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35162;gnomADv4_1_AC_joint_XX=17677;gnomADv4_1_AC_joint_XY=17485;gnomADv4_1_AF_grpmax_joint=0.398664;gnomADv4_1_AF_joint=0.231186;gnomADv4_1_AF_joint_XX=0.227339;gnomADv4_1_AF_joint_XY=0.235209;gnomADv4_1_AN_grpmax_joint=15266;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4816;gnomADv4_1_nhomalt_joint_XX=2344;gnomADv4_1_nhomalt_joint_XY=2472;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28223895 chr22_28223895_C_A C A 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.241;CADD_Rawscore=0.038324;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-60296G>T|||||||rs134175||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28223895C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-60296G>T|||||||rs134175||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28223895C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-60296G>T|||||||rs134175||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28223895C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-60296G>T|||||||rs134175||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28223895C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-60296G>T|||||||rs134175||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28223895C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-60296G>T|||||||rs134175||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28223895C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-60296G>T|||||||rs134175||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28223895C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-60296G>T|||||||rs134175||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28223895C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-60296G>T|||||||rs134175||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28223895C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-60296G>T|||||||rs134175||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28223895C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-60296G>T|||||||rs134175||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28223895C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-60296G>T|||||||rs134175||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28223895C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-60296G>T|||||||rs134175||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28223895C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-14|-48|-14|-48;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=147764;gnomADv4_1_AC_joint_XX=75345;gnomADv4_1_AC_joint_XY=72419;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.969936;gnomADv4_1_AF_joint_XX=0.967823;gnomADv4_1_AF_joint_XY=0.972145;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152344;gnomADv4_1_AN_joint_XX=77850;gnomADv4_1_AN_joint_XY=74494;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=71691;gnomADv4_1_nhomalt_joint_XX=36479;gnomADv4_1_nhomalt_joint_XY=35212;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28224181 chr22_28224181_G_T G T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=4.87;CADD_Rawscore=0.443744;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-60582C>A|||||||rs965295476||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28224181G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-60582C>A|||||||rs965295476||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28224181G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-60582C>A|||||||rs965295476||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28224181G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-60582C>A|||||||rs965295476||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28224181G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-60582C>A|||||||rs965295476||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28224181G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-60582C>A|||||||rs965295476||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28224181G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-60582C>A|||||||rs965295476||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28224181G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-60582C>A|||||||rs965295476||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28224181G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-60582C>A|||||||rs965295476||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28224181G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-60582C>A|||||||rs965295476||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28224181G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-60582C>A|||||||rs965295476||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28224181G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-60582C>A|||||||rs965295476||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28224181G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-60582C>A|||||||rs965295476||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28224181G>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|43|2|-9|-38;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30;gnomADv4_1_AC_joint_XX=15;gnomADv4_1_AC_joint_XY=15;gnomADv4_1_AF_grpmax_joint=7.34905e-05;gnomADv4_1_AF_joint=0.000197169;gnomADv4_1_AF_joint_XX=0.000192757;gnomADv4_1_AF_joint_XY=0.000201786;gnomADv4_1_AN_grpmax_joint=68036;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28224919 chr22_28224919_A_G A G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.717;CADD_Rawscore=-0.102812;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-61320T>C|||||||rs5752710||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28224919A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-61320T>C|||||||rs5752710||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28224919A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-61320T>C|||||||rs5752710||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28224919A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-61320T>C|||||||rs5752710||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28224919A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-61320T>C|||||||rs5752710||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28224919A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-61320T>C|||||||rs5752710||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28224919A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-61320T>C|||||||rs5752710||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28224919A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-61320T>C|||||||rs5752710||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28224919A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-61320T>C|||||||rs5752710||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28224919A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-61320T>C|||||||rs5752710||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28224919A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-61320T>C|||||||rs5752710||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28224919A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-61320T>C|||||||rs5752710||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28224919A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-61320T>C|||||||rs5752710||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28224919A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|25|-10|5|48;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35871;gnomADv4_1_AC_joint_XX=18155;gnomADv4_1_AC_joint_XY=17716;gnomADv4_1_AF_grpmax_joint=0.350852;gnomADv4_1_AF_joint=0.235804;gnomADv4_1_AF_joint_XX=0.233391;gnomADv4_1_AF_joint_XY=0.23833;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4930;gnomADv4_1_nhomalt_joint_XX=2479;gnomADv4_1_nhomalt_joint_XY=2451;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28225368 chr22_28225368_AAAG_A;chr22_28225368_AAAGAAG_A AAAG A 41 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.458;CADDIndel_Rawscore=-0.214985;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-61772_934-61770del|||||||rs148306183||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||AAG|AAG||||chr22:g.28225401_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-61772_553-61770del|||||||rs148306183||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||AAG|AAG||||chr22:g.28225401_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-61772_934-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||AAG|AAG||||chr22:g.28225401_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-61772_934-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||AAG|AAG||||chr22:g.28225401_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-61772_580-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||AAG|AAG||||chr22:g.28225401_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-61772_580-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||AAG|AAG||||chr22:g.28225401_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-61772_856-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||AAG|AAG||||chr22:g.28225401_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-61772_934-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||AAG|AAG||||chr22:g.28225401_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-61772_934-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||AAG|AAG||||chr22:g.28225401_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-61772_934-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||AAG|AAG||||chr22:g.28225401_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-61772_844-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||AAG|AAG||||chr22:g.28225401_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-61772_856-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||AAG|AAG||||chr22:g.28225401_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-61772_628-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||AAG|AAG||||chr22:g.28225401_28225403del|||||||||||||;SpliceAI=A|TTC28|0.02|0.00|0.00|0.00|-19|-41|43|-41;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73470;gnomADv4_1_AC_joint_XX=37897;gnomADv4_1_AC_joint_XY=35573;gnomADv4_1_AF_grpmax_joint=0.700698;gnomADv4_1_AF_joint=0.514316;gnomADv4_1_AF_joint_XX=0.513287;gnomADv4_1_AF_joint_XY=0.515416;gnomADv4_1_AN_grpmax_joint=4868;gnomADv4_1_AN_joint=142850;gnomADv4_1_AN_joint_XX=73832;gnomADv4_1_AN_joint_XY=69018;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19065;gnomADv4_1_nhomalt_joint_XX=9839;gnomADv4_1_nhomalt_joint_XY=9226;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28225368 chr22_28225368_AAAG_A;chr22_28225368_AAAGAAG_A AAAGAAG A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=0.394;CADDIndel_Rawscore=-0.253222;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-61775_934-61770del|||||||rs148306183||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||AAGAAG|AAGAAG||||chr22:g.28225398_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-61775_553-61770del|||||||rs148306183||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||AAGAAG|AAGAAG||||chr22:g.28225398_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-61775_934-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||AAGAAG|AAGAAG||||chr22:g.28225398_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-61775_934-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||AAGAAG|AAGAAG||||chr22:g.28225398_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-61775_580-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||AAGAAG|AAGAAG||||chr22:g.28225398_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-61775_580-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||AAGAAG|AAGAAG||||chr22:g.28225398_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-61775_856-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||AAGAAG|AAGAAG||||chr22:g.28225398_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-61775_934-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||AAGAAG|AAGAAG||||chr22:g.28225398_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-61775_934-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||AAGAAG|AAGAAG||||chr22:g.28225398_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-61775_934-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||AAGAAG|AAGAAG||||chr22:g.28225398_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-61775_844-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||AAGAAG|AAGAAG||||chr22:g.28225398_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-61775_856-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||AAGAAG|AAGAAG||||chr22:g.28225398_28225403del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-61775_628-61770del|||||||rs148306183||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||AAGAAG|AAGAAG||||chr22:g.28225398_28225403del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21147;gnomADv4_1_AC_joint_XX=11011;gnomADv4_1_AC_joint_XY=10136;gnomADv4_1_AF_grpmax_joint=0.170171;gnomADv4_1_AF_joint=0.147871;gnomADv4_1_AF_joint_XX=0.148978;gnomADv4_1_AF_joint_XY=0.146686;gnomADv4_1_AN_grpmax_joint=37098;gnomADv4_1_AN_joint=143010;gnomADv4_1_AN_joint_XX=73910;gnomADv4_1_AN_joint_XY=69100;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1627;gnomADv4_1_nhomalt_joint_XX=848;gnomADv4_1_nhomalt_joint_XY=779;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28227376 chr22_28227376_C_A C A 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.527;CADD_Rawscore=-0.18009;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-63777G>T|||||||rs5762528||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28227376C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-63777G>T|||||||rs5762528||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28227376C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-63777G>T|||||||rs5762528||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28227376C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-63777G>T|||||||rs5762528||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28227376C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-63777G>T|||||||rs5762528||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28227376C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-63777G>T|||||||rs5762528||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28227376C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-63777G>T|||||||rs5762528||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28227376C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-63777G>T|||||||rs5762528||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28227376C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-63777G>T|||||||rs5762528||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28227376C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-63777G>T|||||||rs5762528||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28227376C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-63777G>T|||||||rs5762528||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28227376C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-63777G>T|||||||rs5762528||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28227376C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-63777G>T|||||||rs5762528||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28227376C>A|||1||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-3|35|37|-18;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78739;gnomADv4_1_AC_joint_XX=40326;gnomADv4_1_AC_joint_XY=38413;gnomADv4_1_AF_grpmax_joint=0.609269;gnomADv4_1_AF_joint=0.517945;gnomADv4_1_AF_joint_XX=0.518823;gnomADv4_1_AF_joint_XY=0.517026;gnomADv4_1_AN_grpmax_joint=41430;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20885;gnomADv4_1_nhomalt_joint_XX=10582;gnomADv4_1_nhomalt_joint_XY=10303;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28228331 chr22_28228331_T_C T C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=3.049;CADD_Rawscore=0.279156;CSQ=C|downstream_gene_variant|MODIFIER|SNORD42|ENSG00000201209|Transcript|ENST00000364339|snoRNA||||||||||rs134176|4425|-1||RFAM||||||||||Ensembl||T|T||||chr22:g.28228331T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-64732A>G|||||||rs134176||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28228331T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-64732A>G|||||||rs134176||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28228331T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-64732A>G|||||||rs134176||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28228331T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-64732A>G|||||||rs134176||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28228331T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-64732A>G|||||||rs134176||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28228331T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-64732A>G|||||||rs134176||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28228331T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-64732A>G|||||||rs134176||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28228331T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-64732A>G|||||||rs134176||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28228331T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-64732A>G|||||||rs134176||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28228331T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-64732A>G|||||||rs134176||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28228331T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-64732A>G|||||||rs134176||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28228331T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-64732A>G|||||||rs134176||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28228331T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-64732A>G|||||||rs134176||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28228331T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC124905171|124905171|Transcript|XR_007068170.1|snoRNA||||||||||rs134176|4425|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28228331T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|11|-2|11|5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000364339,ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068170.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000201209,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,124905171;VEP_SYMBOL=SNORD42,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC124905171;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80219;gnomADv4_1_AC_joint_XX=40824;gnomADv4_1_AC_joint_XY=39395;gnomADv4_1_AF_grpmax_joint=0.607115;gnomADv4_1_AF_joint=0.52775;gnomADv4_1_AF_joint_XX=0.525297;gnomADv4_1_AF_joint_XY=0.530315;gnomADv4_1_AN_grpmax_joint=15264;gnomADv4_1_AN_joint=152002;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=21411;gnomADv4_1_nhomalt_joint_XX=10873;gnomADv4_1_nhomalt_joint_XY=10538;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28229017 chr22_28229017_A_G A G 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=1.866;CADD_Rawscore=0.145559;CSQ=G|downstream_gene_variant|MODIFIER|SNORD42|ENSG00000201209|Transcript|ENST00000364339|snoRNA||||||||||rs134177|3739|-1||RFAM||||||||||Ensembl||A|A||||chr22:g.28229017A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-65418T>C|||||||rs134177||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28229017A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-65418T>C|||||||rs134177||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28229017A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-65418T>C|||||||rs134177||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28229017A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-65418T>C|||||||rs134177||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28229017A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-65418T>C|||||||rs134177||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28229017A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-65418T>C|||||||rs134177||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28229017A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-65418T>C|||||||rs134177||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28229017A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-65418T>C|||||||rs134177||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28229017A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-65418T>C|||||||rs134177||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28229017A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-65418T>C|||||||rs134177||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28229017A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-65418T>C|||||||rs134177||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28229017A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-65418T>C|||||||rs134177||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28229017A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-65418T>C|||||||rs134177||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28229017A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC124905171|124905171|Transcript|XR_007068170.1|snoRNA||||||||||rs134177|3739|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28229017A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-27|-30|-16|-21;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000364339,ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068170.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000201209,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,124905171;VEP_SYMBOL=SNORD42,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC124905171;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=105543;gnomADv4_1_AC_joint_XX=53963;gnomADv4_1_AC_joint_XY=51580;gnomADv4_1_AF_grpmax_joint=0.713509;gnomADv4_1_AF_joint=0.696552;gnomADv4_1_AF_joint_XX=0.696315;gnomADv4_1_AF_joint_XY=0.696801;gnomADv4_1_AN_grpmax_joint=4782;gnomADv4_1_AN_joint=151522;gnomADv4_1_AN_joint_XX=77498;gnomADv4_1_AN_joint_XY=74024;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=36950;gnomADv4_1_nhomalt_joint_XX=18927;gnomADv4_1_nhomalt_joint_XY=18023;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28229303 chr22_28229303_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=14.46;CADD_Rawscore=1.54791;CSQ=A|downstream_gene_variant|MODIFIER|SNORD42|ENSG00000201209|Transcript|ENST00000364339|snoRNA||||||||||rs134178|3453|-1||RFAM||||||||||Ensembl||G|G||||chr22:g.28229303G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.934-65704C>T|||||||rs134178||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28229303G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.553-65704C>T|||||||rs134178||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28229303G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.934-65704C>T|||||||rs134178||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28229303G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.934-65704C>T|||||||rs134178||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28229303G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.580-65704C>T|||||||rs134178||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28229303G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.580-65704C>T|||||||rs134178||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28229303G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.856-65704C>T|||||||rs134178||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28229303G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.934-65704C>T|||||||rs134178||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28229303G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.934-65704C>T|||||||rs134178||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28229303G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.934-65704C>T|||||||rs134178||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28229303G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.844-65704C>T|||||||rs134178||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28229303G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.856-65704C>T|||||||rs134178||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28229303G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.628-65704C>T|||||||rs134178||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28229303G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC124905171|124905171|Transcript|XR_007068170.1|snoRNA||||||||||rs134178|3453|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28229303G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|38|0|17|-23;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000364339,ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068170.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000201209,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,124905171;VEP_SYMBOL=SNORD42,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC124905171;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=76075;gnomADv4_1_AC_joint_XX=38791;gnomADv4_1_AC_joint_XY=37284;gnomADv4_1_AF_grpmax_joint=0.582759;gnomADv4_1_AF_joint=0.500671;gnomADv4_1_AF_joint_XX=0.499254;gnomADv4_1_AF_joint_XY=0.502155;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=151946;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19327;gnomADv4_1_nhomalt_joint_XX=9825;gnomADv4_1_nhomalt_joint_XY=9502;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28232221 chr22_28232221_T_C T C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.08;CADD_Rawscore=-0.670044;CSQ=C|downstream_gene_variant|MODIFIER|SNORD42|ENSG00000201209|Transcript|ENST00000364339|snoRNA||||||||||rs5762532|535|-1||RFAM||||||||||Ensembl||T|T||||chr22:g.28232221T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+63977A>G|||||||rs5762532||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28232221T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+63977A>G|||||||rs5762532||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28232221T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+63977A>G|||||||rs5762532||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28232221T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+63977A>G|||||||rs5762532||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28232221T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+63977A>G|||||||rs5762532||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28232221T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+63977A>G|||||||rs5762532||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28232221T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+63977A>G|||||||rs5762532||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28232221T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+63977A>G|||||||rs5762532||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28232221T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+63977A>G|||||||rs5762532||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28232221T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+63977A>G|||||||rs5762532||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28232221T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+63977A>G|||||||rs5762532||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28232221T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+63977A>G|||||||rs5762532||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28232221T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+63977A>G|||||||rs5762532||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28232221T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|LOC124905171|124905171|Transcript|XR_007068170.1|snoRNA||||||||||rs5762532|535|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28232221T>C|||1||||||||||;SpliceAI=C|TTC28|0.01|0.00|0.00|0.00|27|-16|27|28;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000364339,ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068170.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000201209,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,124905171;VEP_SYMBOL=SNORD42,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC124905171;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50857;gnomADv4_1_AC_joint_XX=25802;gnomADv4_1_AC_joint_XY=25055;gnomADv4_1_AF_grpmax_joint=0.53343;gnomADv4_1_AF_joint=0.334308;gnomADv4_1_AF_joint_XX=0.331833;gnomADv4_1_AF_joint_XY=0.336897;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=9878;gnomADv4_1_nhomalt_joint_XX=5022;gnomADv4_1_nhomalt_joint_XY=4856;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28233427 chr22_28233427_T_C T C 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.019;CADD_Rawscore=-1.0772;CSQ=C|upstream_gene_variant|MODIFIER|SNORD42|ENSG00000201209|Transcript|ENST00000364339|snoRNA||||||||||rs134179|604|-1||RFAM||||||||||Ensembl||T|T||||chr22:g.28233427T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+62771A>G|||||||rs134179||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28233427T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+62771A>G|||||||rs134179||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28233427T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+62771A>G|||||||rs134179||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28233427T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+62771A>G|||||||rs134179||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28233427T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+62771A>G|||||||rs134179||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28233427T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+62771A>G|||||||rs134179||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28233427T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+62771A>G|||||||rs134179||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28233427T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+62771A>G|||||||rs134179||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28233427T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+62771A>G|||||||rs134179||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28233427T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+62771A>G|||||||rs134179||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28233427T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+62771A>G|||||||rs134179||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28233427T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+62771A>G|||||||rs134179||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28233427T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+62771A>G|||||||rs134179||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28233427T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC124905171|124905171|Transcript|XR_007068170.1|snoRNA||||||||||rs134179|604|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28233427T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-30|-36|-29|16;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000364339,ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068170.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000201209,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,124905171;VEP_SYMBOL=SNORD42,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC124905171;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=115932;gnomADv4_1_AC_joint_XX=59011;gnomADv4_1_AC_joint_XY=56921;gnomADv4_1_AF_grpmax_joint=0.851183;gnomADv4_1_AF_joint=0.762219;gnomADv4_1_AF_joint_XX=0.759296;gnomADv4_1_AF_joint_XY=0.765273;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=44363;gnomADv4_1_nhomalt_joint_XX=22521;gnomADv4_1_nhomalt_joint_XY=21842;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28234799 chr22_28234799_T_G T G 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.256;CADD_Rawscore=0.04161;CSQ=G|upstream_gene_variant|MODIFIER|SNORD42|ENSG00000201209|Transcript|ENST00000364339|snoRNA||||||||||rs134180|1976|-1||RFAM||||||||||Ensembl||T|T||||chr22:g.28234799T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+61399A>C|||||||rs134180||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28234799T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+61399A>C|||||||rs134180||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28234799T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+61399A>C|||||||rs134180||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28234799T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+61399A>C|||||||rs134180||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28234799T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+61399A>C|||||||rs134180||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28234799T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+61399A>C|||||||rs134180||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28234799T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+61399A>C|||||||rs134180||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28234799T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+61399A>C|||||||rs134180||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28234799T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+61399A>C|||||||rs134180||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28234799T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+61399A>C|||||||rs134180||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28234799T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+61399A>C|||||||rs134180||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28234799T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+61399A>C|||||||rs134180||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28234799T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+61399A>C|||||||rs134180||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28234799T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC124905171|124905171|Transcript|XR_007068170.1|snoRNA||||||||||rs134180|1976|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28234799T>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|35|-12|-27|34;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000364339,ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068170.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000201209,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,124905171;VEP_SYMBOL=SNORD42,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC124905171;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=116249;gnomADv4_1_AC_joint_XX=59193;gnomADv4_1_AC_joint_XY=57056;gnomADv4_1_AF_grpmax_joint=0.85249;gnomADv4_1_AF_joint=0.764323;gnomADv4_1_AF_joint_XX=0.761325;gnomADv4_1_AF_joint_XY=0.767459;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=44594;gnomADv4_1_nhomalt_joint_XX=22644;gnomADv4_1_nhomalt_joint_XY=21950;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28235220 chr22_28235220_G_GT G GT 51 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.096;CADDIndel_Rawscore=-0.622442;CSQ=T|upstream_gene_variant|MODIFIER|SNORD42|ENSG00000201209|Transcript|ENST00000364339|snoRNA||||||||||rs134181|2397|-1||RFAM||||||||||Ensembl|||||||chr22:g.28235226dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+60977dup|||||||rs134181||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28235226dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+60977dup|||||||rs134181||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28235226dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+60977dup|||||||rs134181||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28235226dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+60977dup|||||||rs134181||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28235226dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+60977dup|||||||rs134181||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28235226dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+60977dup|||||||rs134181||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28235226dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+60977dup|||||||rs134181||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28235226dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+60977dup|||||||rs134181||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28235226dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+60977dup|||||||rs134181||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28235226dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+60977dup|||||||rs134181||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28235226dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+60977dup|||||||rs134181||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28235226dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+60977dup|||||||rs134181||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28235226dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+60977dup|||||||rs134181||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28235226dup|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC124905171|124905171|Transcript|XR_007068170.1|snoRNA||||||||||rs134181|2397|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.28235226dup|||||||||||||;SpliceAI=GT|TTC28|0.00|0.00|0.00|0.00|14|9|34|9;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000364339,ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068170.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000201209,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,124905171;VEP_SYMBOL=SNORD42,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC124905171;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=117980;gnomADv4_1_AC_joint_XX=60101;gnomADv4_1_AC_joint_XY=57879;gnomADv4_1_AF_grpmax_joint=0.852684;gnomADv4_1_AF_joint=0.775786;gnomADv4_1_AF_joint_XX=0.772944;gnomADv4_1_AF_joint_XY=0.77876;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=45958;gnomADv4_1_nhomalt_joint_XX=23351;gnomADv4_1_nhomalt_joint_XY=22607;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28235912 chr22_28235912_T_A T A 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.78;CADD_Rawscore=-0.081447;CSQ=A|upstream_gene_variant|MODIFIER|SNORD42|ENSG00000201209|Transcript|ENST00000364339|snoRNA||||||||||rs134183|3089|-1||RFAM||||||||||Ensembl||T|T||||chr22:g.28235912T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+60286A>T|||||||rs134183||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28235912T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+60286A>T|||||||rs134183||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28235912T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+60286A>T|||||||rs134183||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28235912T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+60286A>T|||||||rs134183||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28235912T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+60286A>T|||||||rs134183||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28235912T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+60286A>T|||||||rs134183||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28235912T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+60286A>T|||||||rs134183||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28235912T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+60286A>T|||||||rs134183||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28235912T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+60286A>T|||||||rs134183||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28235912T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+60286A>T|||||||rs134183||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28235912T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+60286A>T|||||||rs134183||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28235912T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+60286A>T|||||||rs134183||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28235912T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+60286A>T|||||||rs134183||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28235912T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905171|124905171|Transcript|XR_007068170.1|snoRNA||||||||||rs134183|3089|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28235912T>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-32|9|9|8;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000364339,ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068170.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000201209,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,124905171;VEP_SYMBOL=SNORD42,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC124905171;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=104661;gnomADv4_1_AC_joint_XX=53568;gnomADv4_1_AC_joint_XY=51093;gnomADv4_1_AF_grpmax_joint=0.708227;gnomADv4_1_AF_joint=0.68798;gnomADv4_1_AF_joint_XX=0.688977;gnomADv4_1_AF_joint_XY=0.686937;gnomADv4_1_AN_grpmax_joint=67974;gnomADv4_1_AN_joint=152128;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=36326;gnomADv4_1_nhomalt_joint_XX=18643;gnomADv4_1_nhomalt_joint_XY=17683;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28237583 chr22_28237583_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=4.688;CADD_Rawscore=0.426992;CSQ=C|upstream_gene_variant|MODIFIER|SNORD42|ENSG00000201209|Transcript|ENST00000364339|snoRNA||||||||||rs5762534|4760|-1||RFAM||||||||||Ensembl||T|T||||chr22:g.28237583T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+58615A>G|||||||rs5762534||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28237583T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+58615A>G|||||||rs5762534||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28237583T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+58615A>G|||||||rs5762534||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28237583T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+58615A>G|||||||rs5762534||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28237583T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+58615A>G|||||||rs5762534||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28237583T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+58615A>G|||||||rs5762534||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28237583T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+58615A>G|||||||rs5762534||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28237583T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+58615A>G|||||||rs5762534||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28237583T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+58615A>G|||||||rs5762534||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28237583T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+58615A>G|||||||rs5762534||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28237583T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+58615A>G|||||||rs5762534||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28237583T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+58615A>G|||||||rs5762534||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28237583T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+58615A>G|||||||rs5762534||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28237583T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|LOC124905171|124905171|Transcript|XR_007068170.1|snoRNA||||||||||rs5762534|4760|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28237583T>C|||1||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|48|-35|37|10;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000364339,ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068170.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000201209,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,124905171;VEP_SYMBOL=SNORD42,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC124905171;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20235;gnomADv4_1_AC_joint_XX=10101;gnomADv4_1_AC_joint_XY=10134;gnomADv4_1_AF_grpmax_joint=0.239004;gnomADv4_1_AF_joint=0.132912;gnomADv4_1_AF_joint_XX=0.129846;gnomADv4_1_AF_joint_XY=0.136115;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152244;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1483;gnomADv4_1_nhomalt_joint_XX=692;gnomADv4_1_nhomalt_joint_XY=791;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28238988 chr22_28238988_T_C T C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.782;CADD_Rawscore=-0.080749;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+57210A>G|||||||rs134184||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28238988T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+57210A>G|||||||rs134184||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28238988T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+57210A>G|||||||rs134184||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28238988T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+57210A>G|||||||rs134184||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28238988T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+57210A>G|||||||rs134184||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28238988T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+57210A>G|||||||rs134184||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28238988T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+57210A>G|||||||rs134184||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28238988T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+57210A>G|||||||rs134184||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28238988T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+57210A>G|||||||rs134184||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28238988T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+57210A>G|||||||rs134184||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28238988T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+57210A>G|||||||rs134184||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28238988T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+57210A>G|||||||rs134184||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28238988T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+57210A>G|||||||rs134184||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28238988T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|15|-2|-4|4;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23698;gnomADv4_1_AC_joint_XX=11924;gnomADv4_1_AC_joint_XY=11774;gnomADv4_1_AF_grpmax_joint=0.284113;gnomADv4_1_AF_joint=0.155742;gnomADv4_1_AF_joint_XX=0.153296;gnomADv4_1_AF_joint_XY=0.158299;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2245;gnomADv4_1_nhomalt_joint_XX=1099;gnomADv4_1_nhomalt_joint_XY=1146;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28239685 chr22_28239685_T_C T C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.526;CADD_Rawscore=0.092648;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+56513A>G|||||||rs134185||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28239685T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+56513A>G|||||||rs134185||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28239685T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+56513A>G|||||||rs134185||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28239685T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+56513A>G|||||||rs134185||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28239685T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+56513A>G|||||||rs134185||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28239685T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+56513A>G|||||||rs134185||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28239685T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+56513A>G|||||||rs134185||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28239685T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+56513A>G|||||||rs134185||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28239685T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+56513A>G|||||||rs134185||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28239685T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+56513A>G|||||||rs134185||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28239685T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+56513A>G|||||||rs134185||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28239685T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+56513A>G|||||||rs134185||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28239685T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+56513A>G|||||||rs134185||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28239685T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-28|20|28|-42;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25297;gnomADv4_1_AC_joint_XX=12798;gnomADv4_1_AC_joint_XY=12499;gnomADv4_1_AF_grpmax_joint=0.285714;gnomADv4_1_AF_joint=0.166443;gnomADv4_1_AF_joint_XX=0.164736;gnomADv4_1_AF_joint_XY=0.168228;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2476;gnomADv4_1_nhomalt_joint_XX=1222;gnomADv4_1_nhomalt_joint_XY=1254;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28242523 chr22_28242523_C_G C G 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=1.147;CADD_Rawscore=0.017909;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+53675G>C|||||||rs134186||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28242523C>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+53675G>C|||||||rs134186||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28242523C>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+53675G>C|||||||rs134186||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28242523C>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+53675G>C|||||||rs134186||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28242523C>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+53675G>C|||||||rs134186||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28242523C>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+53675G>C|||||||rs134186||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28242523C>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+53675G>C|||||||rs134186||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28242523C>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+53675G>C|||||||rs134186||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28242523C>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+53675G>C|||||||rs134186||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28242523C>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+53675G>C|||||||rs134186||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28242523C>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+53675G>C|||||||rs134186||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28242523C>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+53675G>C|||||||rs134186||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28242523C>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+53675G>C|||||||rs134186||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28242523C>G|||1||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|1|-1|-40|-8;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48874;gnomADv4_1_AC_joint_XX=24823;gnomADv4_1_AC_joint_XY=24051;gnomADv4_1_AF_grpmax_joint=0.47595;gnomADv4_1_AF_joint=0.321408;gnomADv4_1_AF_joint_XX=0.319365;gnomADv4_1_AF_joint_XY=0.323544;gnomADv4_1_AN_grpmax_joint=15260;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=9269;gnomADv4_1_nhomalt_joint_XX=4717;gnomADv4_1_nhomalt_joint_XY=4552;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28245146 chr22_28245146_A_C A C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=15.27;CADD_Rawscore=1.69567;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+51052T>G|||||||rs134187||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28245146A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+51052T>G|||||||rs134187||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28245146A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+51052T>G|||||||rs134187||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28245146A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+51052T>G|||||||rs134187||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28245146A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+51052T>G|||||||rs134187||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28245146A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+51052T>G|||||||rs134187||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28245146A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+51052T>G|||||||rs134187||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28245146A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+51052T>G|||||||rs134187||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28245146A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+51052T>G|||||||rs134187||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28245146A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+51052T>G|||||||rs134187||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28245146A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+51052T>G|||||||rs134187||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28245146A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+51052T>G|||||||rs134187||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28245146A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+51052T>G|||||||rs134187||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28245146A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|33|-41|0|24;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35085;gnomADv4_1_AC_joint_XX=17610;gnomADv4_1_AC_joint_XY=17475;gnomADv4_1_AF_grpmax_joint=0.399594;gnomADv4_1_AF_joint=0.230628;gnomADv4_1_AF_joint_XX=0.226396;gnomADv4_1_AF_joint_XY=0.235056;gnomADv4_1_AN_grpmax_joint=15268;gnomADv4_1_AN_joint=152128;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4879;gnomADv4_1_nhomalt_joint_XX=2334;gnomADv4_1_nhomalt_joint_XY=2545;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28247468 chr22_28247468_G_A G A 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.643;CADD_Rawscore=0.11198;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+48730C>T|||||||rs715517||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28247468G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+48730C>T|||||||rs715517||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28247468G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+48730C>T|||||||rs715517||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28247468G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+48730C>T|||||||rs715517||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28247468G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+48730C>T|||||||rs715517||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28247468G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+48730C>T|||||||rs715517||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28247468G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+48730C>T|||||||rs715517||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28247468G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+48730C>T|||||||rs715517||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28247468G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+48730C>T|||||||rs715517||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28247468G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+48730C>T|||||||rs715517||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28247468G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+48730C>T|||||||rs715517||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28247468G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+48730C>T|||||||rs715517||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28247468G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+48730C>T|||||||rs715517||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28247468G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F7PF|enhancer||||||||||rs715517|||||||||||||||||||||chr22:g.28247468G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|38|44|-5|45;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,ENSR22_9F7PF;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118062;gnomADv4_1_AC_joint_XX=60268;gnomADv4_1_AC_joint_XY=57794;gnomADv4_1_AF_grpmax_joint=0.847493;gnomADv4_1_AF_joint=0.775907;gnomADv4_1_AF_joint_XX=0.774753;gnomADv4_1_AF_joint_XY=0.777114;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=45998;gnomADv4_1_nhomalt_joint_XX=23468;gnomADv4_1_nhomalt_joint_XY=22530;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28247896 chr22_28247896_G_C G C 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=3.968;CADD_Rawscore=0.362402;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+48302C>G|||||||rs738995||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28247896G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+48302C>G|||||||rs738995||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28247896G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+48302C>G|||||||rs738995||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28247896G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+48302C>G|||||||rs738995||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28247896G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+48302C>G|||||||rs738995||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28247896G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+48302C>G|||||||rs738995||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28247896G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+48302C>G|||||||rs738995||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28247896G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+48302C>G|||||||rs738995||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28247896G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+48302C>G|||||||rs738995||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28247896G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+48302C>G|||||||rs738995||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28247896G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+48302C>G|||||||rs738995||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28247896G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+48302C>G|||||||rs738995||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28247896G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+48302C>G|||||||rs738995||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28247896G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7LCR|enhancer||||||||||rs738995|||||||||||||||||||||chr22:g.28247896G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|7|-19|1|-14;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,ENSR22_B7LCR;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39892;gnomADv4_1_AC_joint_XX=20422;gnomADv4_1_AC_joint_XY=19470;gnomADv4_1_AF_grpmax_joint=0.391611;gnomADv4_1_AF_joint=0.262375;gnomADv4_1_AF_joint_XX=0.262716;gnomADv4_1_AF_joint_XY=0.262018;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6550;gnomADv4_1_nhomalt_joint_XX=3377;gnomADv4_1_nhomalt_joint_XY=3173;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28248893 chr22_28248893_A_C A C 50 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.655;CADD_Rawscore=-0.125519;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+47305T>G|||||||rs134188||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28248893A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+47305T>G|||||||rs134188||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28248893A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+47305T>G|||||||rs134188||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28248893A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+47305T>G|||||||rs134188||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28248893A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+47305T>G|||||||rs134188||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28248893A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+47305T>G|||||||rs134188||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28248893A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+47305T>G|||||||rs134188||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28248893A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+47305T>G|||||||rs134188||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28248893A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+47305T>G|||||||rs134188||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28248893A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+47305T>G|||||||rs134188||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28248893A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+47305T>G|||||||rs134188||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28248893A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+47305T>G|||||||rs134188||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28248893A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+47305T>G|||||||rs134188||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28248893A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|42|-39|12|7;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119860;gnomADv4_1_AC_joint_XX=61132;gnomADv4_1_AC_joint_XY=58728;gnomADv4_1_AF_grpmax_joint=0.852623;gnomADv4_1_AF_joint=0.788822;gnomADv4_1_AF_joint_XX=0.786567;gnomADv4_1_AF_joint_XY=0.791184;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=151948;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=47507;gnomADv4_1_nhomalt_joint_XX=24183;gnomADv4_1_nhomalt_joint_XY=23324;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28251383 chr22_28251383_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=3.936;CADD_Rawscore=0.359539;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+44815A>G|||||||rs2223369||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28251383T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+44815A>G|||||||rs2223369||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28251383T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+44815A>G|||||||rs2223369||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28251383T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+44815A>G|||||||rs2223369||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28251383T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+44815A>G|||||||rs2223369||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28251383T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+44815A>G|||||||rs2223369||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28251383T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+44815A>G|||||||rs2223369||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28251383T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+44815A>G|||||||rs2223369||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28251383T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+44815A>G|||||||rs2223369||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28251383T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+44815A>G|||||||rs2223369||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28251383T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+44815A>G|||||||rs2223369||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28251383T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+44815A>G|||||||rs2223369||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28251383T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+44815A>G|||||||rs2223369||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28251383T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|1|38|1|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25121;gnomADv4_1_AC_joint_XX=13207;gnomADv4_1_AC_joint_XY=11914;gnomADv4_1_AF_grpmax_joint=0.249544;gnomADv4_1_AF_joint=0.16507;gnomADv4_1_AF_joint_XX=0.169769;gnomADv4_1_AF_joint_XY=0.160156;gnomADv4_1_AN_grpmax_joint=67988;gnomADv4_1_AN_joint=152184;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2843;gnomADv4_1_nhomalt_joint_XX=1499;gnomADv4_1_nhomalt_joint_XY=1344;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28252657 chr22_28252657_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.313;CADD_Rawscore=0.053145;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+43541C>T|||||||rs9613581||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28252657G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+43541C>T|||||||rs9613581||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28252657G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+43541C>T|||||||rs9613581||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28252657G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+43541C>T|||||||rs9613581||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28252657G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+43541C>T|||||||rs9613581||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28252657G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+43541C>T|||||||rs9613581||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28252657G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+43541C>T|||||||rs9613581||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28252657G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+43541C>T|||||||rs9613581||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28252657G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+43541C>T|||||||rs9613581||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28252657G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+43541C>T|||||||rs9613581||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28252657G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+43541C>T|||||||rs9613581||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28252657G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+43541C>T|||||||rs9613581||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28252657G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+43541C>T|||||||rs9613581||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28252657G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-34|40|-2|-39;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27819;gnomADv4_1_AC_joint_XX=14330;gnomADv4_1_AC_joint_XY=13489;gnomADv4_1_AF_grpmax_joint=0.258094;gnomADv4_1_AF_joint=0.183029;gnomADv4_1_AF_joint_XX=0.184385;gnomADv4_1_AF_joint_XY=0.181611;gnomADv4_1_AN_grpmax_joint=67948;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3258;gnomADv4_1_nhomalt_joint_XX=1679;gnomADv4_1_nhomalt_joint_XY=1579;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28254492 chr22_28254492_C_CA C CA 50 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=1.473;CADDIndel_Rawscore=0.083396;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+41705dup|||||||rs5844806||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28254504dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+41705dup|||||||rs5844806||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28254504dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+41705dup|||||||rs5844806||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28254504dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+41705dup|||||||rs5844806||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28254504dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+41705dup|||||||rs5844806||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28254504dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+41705dup|||||||rs5844806||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28254504dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+41705dup|||||||rs5844806||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28254504dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+41705dup|||||||rs5844806||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28254504dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+41705dup|||||||rs5844806||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28254504dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+41705dup|||||||rs5844806||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28254504dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+41705dup|||||||rs5844806||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28254504dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+41705dup|||||||rs5844806||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28254504dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+41705dup|||||||rs5844806||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28254504dup|||||||||||||;SpliceAI=CA|TTC28|0.00|0.00|0.00|0.00|-11|30|-4|-9;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53530;gnomADv4_1_AC_joint_XX=27429;gnomADv4_1_AC_joint_XY=26101;gnomADv4_1_AF_grpmax_joint=0.569853;gnomADv4_1_AF_joint=0.395692;gnomADv4_1_AF_joint_XX=0.393338;gnomADv4_1_AF_joint_XY=0.398197;gnomADv4_1_AN_grpmax_joint=272;gnomADv4_1_AN_joint=135282;gnomADv4_1_AN_joint_XX=69734;gnomADv4_1_AN_joint_XY=65548;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=10680;gnomADv4_1_nhomalt_joint_XX=5506;gnomADv4_1_nhomalt_joint_XY=5174;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28256687 chr22_28256687_T_C T C 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=8.643;CADD_Rawscore=0.837455;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+39511A>G|||||||rs60891699||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28256687T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+39511A>G|||||||rs60891699||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28256687T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+39511A>G|||||||rs60891699||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28256687T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+39511A>G|||||||rs60891699||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28256687T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+39511A>G|||||||rs60891699||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28256687T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+39511A>G|||||||rs60891699||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28256687T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+39511A>G|||||||rs60891699||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28256687T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+39511A>G|||||||rs60891699||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28256687T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+39511A>G|||||||rs60891699||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28256687T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+39511A>G|||||||rs60891699||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28256687T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+39511A>G|||||||rs60891699||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28256687T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+39511A>G|||||||rs60891699||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28256687T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+39511A>G|||||||rs60891699||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28256687T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|21|-4|-27|46;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11226;gnomADv4_1_AC_joint_XX=5574;gnomADv4_1_AC_joint_XY=5652;gnomADv4_1_AF_grpmax_joint=0.156389;gnomADv4_1_AF_joint=0.0737883;gnomADv4_1_AF_joint_XX=0.0716747;gnomADv4_1_AF_joint_XY=0.0759984;gnomADv4_1_AN_grpmax_joint=15276;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=629;gnomADv4_1_nhomalt_joint_XX=294;gnomADv4_1_nhomalt_joint_XY=335;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28257328 chr22_28257328_T_G T G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.442;CADD_Rawscore=-0.22427;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+38870A>C|||||||rs134193||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28257328T>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+38870A>C|||||||rs134193||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28257328T>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+38870A>C|||||||rs134193||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28257328T>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+38870A>C|||||||rs134193||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28257328T>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+38870A>C|||||||rs134193||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28257328T>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+38870A>C|||||||rs134193||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28257328T>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+38870A>C|||||||rs134193||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28257328T>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+38870A>C|||||||rs134193||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28257328T>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+38870A>C|||||||rs134193||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28257328T>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+38870A>C|||||||rs134193||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28257328T>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+38870A>C|||||||rs134193||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28257328T>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+38870A>C|||||||rs134193||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28257328T>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+38870A>C|||||||rs134193||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28257328T>G|||1||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|20|-2|-35|-2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66646;gnomADv4_1_AC_joint_XX=33979;gnomADv4_1_AC_joint_XY=32667;gnomADv4_1_AF_grpmax_joint=0.542136;gnomADv4_1_AF_joint=0.438587;gnomADv4_1_AF_joint_XX=0.437513;gnomADv4_1_AF_joint_XY=0.439711;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151956;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14827;gnomADv4_1_nhomalt_joint_XX=7531;gnomADv4_1_nhomalt_joint_XY=7296;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28257739 chr22_28257739_CATATATATATATATATATATAT_C;chr22_28257739_CATATATATATATATATAT_C CATATATATATATATATATATAT C 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.785;CADDIndel_Rawscore=-0.079784;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+38437_933+38458del|||||||rs66590909||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||ATATATATATATATATATATAT|ATATATATATATATATATATAT||||chr22:g.28257760_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+38437_552+38458del|||||||rs66590909||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||ATATATATATATATATATATAT|ATATATATATATATATATATAT||||chr22:g.28257760_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+38437_933+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||ATATATATATATATATATATAT|ATATATATATATATATATATAT||||chr22:g.28257760_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+38437_933+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||ATATATATATATATATATATAT|ATATATATATATATATATATAT||||chr22:g.28257760_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+38437_579+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||ATATATATATATATATATATAT|ATATATATATATATATATATAT||||chr22:g.28257760_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+38437_579+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||ATATATATATATATATATATAT|ATATATATATATATATATATAT||||chr22:g.28257760_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+38437_855+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||ATATATATATATATATATATAT|ATATATATATATATATATATAT||||chr22:g.28257760_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+38437_933+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||ATATATATATATATATATATAT|ATATATATATATATATATATAT||||chr22:g.28257760_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+38437_933+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||ATATATATATATATATATATAT|ATATATATATATATATATATAT||||chr22:g.28257760_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+38437_933+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||ATATATATATATATATATATAT|ATATATATATATATATATATAT||||chr22:g.28257760_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+38437_843+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||ATATATATATATATATATATAT|ATATATATATATATATATATAT||||chr22:g.28257760_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+38437_855+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||ATATATATATATATATATATAT|ATATATATATATATATATATAT||||chr22:g.28257760_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+38437_627+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||ATATATATATATATATATATAT|ATATATATATATATATATATAT||||chr22:g.28257760_28257781del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34302;gnomADv4_1_AC_joint_XX=17799;gnomADv4_1_AC_joint_XY=16503;gnomADv4_1_AF_grpmax_joint=0.453118;gnomADv4_1_AF_joint=0.35433;gnomADv4_1_AF_joint_XX=0.346136;gnomADv4_1_AF_joint_XY=0.363614;gnomADv4_1_AN_grpmax_joint=8724;gnomADv4_1_AN_joint=96808;gnomADv4_1_AN_joint_XX=51422;gnomADv4_1_AN_joint_XY=45386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=6390;gnomADv4_1_nhomalt_joint_XX=3178;gnomADv4_1_nhomalt_joint_XY=3212;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28257739 chr22_28257739_CATATATATATATATATATATAT_C;chr22_28257739_CATATATATATATATATAT_C CATATATATATATATATAT C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.828;CADDIndel_Rawscore=-0.066345;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+38441_933+38458del|||||||rs66590909||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||ATATATATATATATATAT|ATATATATATATATATAT||||chr22:g.28257764_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+38441_552+38458del|||||||rs66590909||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||ATATATATATATATATAT|ATATATATATATATATAT||||chr22:g.28257764_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+38441_933+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||ATATATATATATATATAT|ATATATATATATATATAT||||chr22:g.28257764_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+38441_933+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||ATATATATATATATATAT|ATATATATATATATATAT||||chr22:g.28257764_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+38441_579+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||ATATATATATATATATAT|ATATATATATATATATAT||||chr22:g.28257764_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+38441_579+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||ATATATATATATATATAT|ATATATATATATATATAT||||chr22:g.28257764_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+38441_855+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||ATATATATATATATATAT|ATATATATATATATATAT||||chr22:g.28257764_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+38441_933+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||ATATATATATATATATAT|ATATATATATATATATAT||||chr22:g.28257764_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+38441_933+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||ATATATATATATATATAT|ATATATATATATATATAT||||chr22:g.28257764_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+38441_933+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||ATATATATATATATATAT|ATATATATATATATATAT||||chr22:g.28257764_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+38441_843+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||ATATATATATATATATAT|ATATATATATATATATAT||||chr22:g.28257764_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+38441_855+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||ATATATATATATATATAT|ATATATATATATATATAT||||chr22:g.28257764_28257781del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+38441_627+38458del|||||||rs66590909||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||ATATATATATATATATAT|ATATATATATATATATAT||||chr22:g.28257764_28257781del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10647;gnomADv4_1_AC_joint_XX=5555;gnomADv4_1_AC_joint_XY=5092;gnomADv4_1_AF_grpmax_joint=0.239319;gnomADv4_1_AF_joint=0.110245;gnomADv4_1_AF_joint_XX=0.108247;gnomADv4_1_AF_joint_XY=0.11251;gnomADv4_1_AN_grpmax_joint=3230;gnomADv4_1_AN_joint=96576;gnomADv4_1_AN_joint_XX=51318;gnomADv4_1_AN_joint_XY=45258;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=852;gnomADv4_1_nhomalt_joint_XX=412;gnomADv4_1_nhomalt_joint_XY=440;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28258902 chr22_28258902_A_AGT A AGT 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=3.112;CADDIndel_Rawscore=0.285076;CSQ=GT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+37294_933+37295dup|||||||rs34572491||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28258931_28258932dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+37294_552+37295dup|||||||rs34572491||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28258931_28258932dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+37294_933+37295dup|||||||rs34572491||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28258931_28258932dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+37294_933+37295dup|||||||rs34572491||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28258931_28258932dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+37294_579+37295dup|||||||rs34572491||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28258931_28258932dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+37294_579+37295dup|||||||rs34572491||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28258931_28258932dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+37294_855+37295dup|||||||rs34572491||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28258931_28258932dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+37294_933+37295dup|||||||rs34572491||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28258931_28258932dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+37294_933+37295dup|||||||rs34572491||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28258931_28258932dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+37294_933+37295dup|||||||rs34572491||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28258931_28258932dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+37294_843+37295dup|||||||rs34572491||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28258931_28258932dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+37294_855+37295dup|||||||rs34572491||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28258931_28258932dup|||||||||||||,GT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+37294_627+37295dup|||||||rs34572491||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28258931_28258932dup|||||||||||||;TYPE=INDEL;VEP_Allele=GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34734;gnomADv4_1_AC_joint_XX=17662;gnomADv4_1_AC_joint_XY=17072;gnomADv4_1_AF_grpmax_joint=0.367845;gnomADv4_1_AF_joint=0.235185;gnomADv4_1_AF_joint_XX=0.233045;gnomADv4_1_AF_joint_XY=0.237441;gnomADv4_1_AN_grpmax_joint=14710;gnomADv4_1_AN_joint=147688;gnomADv4_1_AN_joint_XX=75788;gnomADv4_1_AN_joint_XY=71900;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4217;gnomADv4_1_nhomalt_joint_XX=2093;gnomADv4_1_nhomalt_joint_XY=2124;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28261025 chr22_28261025_T_C T C 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=0;AC_XY=4;AF=1.0;AF_XX=.;AF_XY=1.0;AN=4;AN_XX=0;AN_XY=4;AQ=58;CADD_PHREDscore=0.842;CADD_Rawscore=-0.062034;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+35173A>G|||||||rs134196||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28261025T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+35173A>G|||||||rs134196||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28261025T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+35173A>G|||||||rs134196||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28261025T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+35173A>G|||||||rs134196||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28261025T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+35173A>G|||||||rs134196||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28261025T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+35173A>G|||||||rs134196||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28261025T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+35173A>G|||||||rs134196||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28261025T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+35173A>G|||||||rs134196||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28261025T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+35173A>G|||||||rs134196||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28261025T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+35173A>G|||||||rs134196||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28261025T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+35173A>G|||||||rs134196||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28261025T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+35173A>G|||||||rs134196||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28261025T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+35173A>G|||||||rs134196||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28261025T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|28|-4|-26|-4;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=108001;gnomADv4_1_AC_joint_XX=55119;gnomADv4_1_AC_joint_XY=52882;gnomADv4_1_AF_grpmax_joint=0.805983;gnomADv4_1_AF_joint=0.710477;gnomADv4_1_AF_joint_XX=0.709163;gnomADv4_1_AF_joint_XY=0.711851;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=38589;gnomADv4_1_nhomalt_joint_XX=19649;gnomADv4_1_nhomalt_joint_XY=18940;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28265896 chr22_28265896_A_T A T 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.324;CADD_Rawscore=-0.30226;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+30302T>A|||||||rs5762540||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28265896A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+30302T>A|||||||rs5762540||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28265896A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+30302T>A|||||||rs5762540||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28265896A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+30302T>A|||||||rs5762540||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28265896A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+30302T>A|||||||rs5762540||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28265896A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+30302T>A|||||||rs5762540||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28265896A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+30302T>A|||||||rs5762540||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28265896A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+30302T>A|||||||rs5762540||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28265896A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+30302T>A|||||||rs5762540||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28265896A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+30302T>A|||||||rs5762540||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28265896A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+30302T>A|||||||rs5762540||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28265896A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+30302T>A|||||||rs5762540||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28265896A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+30302T>A|||||||rs5762540||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28265896A>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-42|-9|-16|10;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10114;gnomADv4_1_AC_joint_XX=5043;gnomADv4_1_AC_joint_XY=5071;gnomADv4_1_AF_grpmax_joint=0.163265;gnomADv4_1_AF_joint=0.0664485;gnomADv4_1_AF_joint_XX=0.0648301;gnomADv4_1_AF_joint_XY=0.0681403;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152208;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=462;gnomADv4_1_nhomalt_joint_XX=213;gnomADv4_1_nhomalt_joint_XY=249;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28267417 chr22_28267417_A_G A G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=13.98;CADD_Rawscore=1.46537;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+28781T>C|||||||rs9306454||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28267417A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+28781T>C|||||||rs9306454||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28267417A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+28781T>C|||||||rs9306454||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28267417A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+28781T>C|||||||rs9306454||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28267417A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+28781T>C|||||||rs9306454||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28267417A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+28781T>C|||||||rs9306454||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28267417A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+28781T>C|||||||rs9306454||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28267417A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+28781T>C|||||||rs9306454||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28267417A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+28781T>C|||||||rs9306454||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28267417A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+28781T>C|||||||rs9306454||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28267417A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+28781T>C|||||||rs9306454||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28267417A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+28781T>C|||||||rs9306454||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28267417A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+28781T>C|||||||rs9306454||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28267417A>G|||1||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|26|4|-12|-42;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41259;gnomADv4_1_AC_joint_XX=21161;gnomADv4_1_AC_joint_XY=20098;gnomADv4_1_AF_grpmax_joint=0.411565;gnomADv4_1_AF_joint=0.271298;gnomADv4_1_AF_joint_XX=0.272167;gnomADv4_1_AF_joint_XY=0.270389;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6984;gnomADv4_1_nhomalt_joint_XX=3621;gnomADv4_1_nhomalt_joint_XY=3363;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28270410 chr22_28270410_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=7.086;CADD_Rawscore=0.66743;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+25788A>G|||||||rs9613588||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28270410T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+25788A>G|||||||rs9613588||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28270410T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+25788A>G|||||||rs9613588||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28270410T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+25788A>G|||||||rs9613588||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28270410T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+25788A>G|||||||rs9613588||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28270410T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+25788A>G|||||||rs9613588||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28270410T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+25788A>G|||||||rs9613588||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28270410T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+25788A>G|||||||rs9613588||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28270410T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+25788A>G|||||||rs9613588||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28270410T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+25788A>G|||||||rs9613588||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28270410T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+25788A>G|||||||rs9613588||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28270410T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+25788A>G|||||||rs9613588||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28270410T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+25788A>G|||||||rs9613588||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28270410T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|8|43|-34|43;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28067;gnomADv4_1_AC_joint_XX=14436;gnomADv4_1_AC_joint_XY=13631;gnomADv4_1_AF_grpmax_joint=0.260717;gnomADv4_1_AF_joint=0.184479;gnomADv4_1_AF_joint_XX=0.185581;gnomADv4_1_AF_joint_XY=0.183326;gnomADv4_1_AN_grpmax_joint=67974;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3319;gnomADv4_1_nhomalt_joint_XX=1703;gnomADv4_1_nhomalt_joint_XY=1616;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28270973 chr22_28270973_T_C T C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.33;CADD_Rawscore=-0.298079;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+25225A>G|||||||rs5762541||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28270973T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+25225A>G|||||||rs5762541||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28270973T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+25225A>G|||||||rs5762541||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28270973T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+25225A>G|||||||rs5762541||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28270973T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+25225A>G|||||||rs5762541||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28270973T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+25225A>G|||||||rs5762541||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28270973T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+25225A>G|||||||rs5762541||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28270973T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+25225A>G|||||||rs5762541||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28270973T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+25225A>G|||||||rs5762541||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28270973T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+25225A>G|||||||rs5762541||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28270973T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+25225A>G|||||||rs5762541||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28270973T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+25225A>G|||||||rs5762541||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28270973T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+25225A>G|||||||rs5762541||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28270973T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|7|-2|5|30;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43066;gnomADv4_1_AC_joint_XX=21943;gnomADv4_1_AC_joint_XY=21123;gnomADv4_1_AF_grpmax_joint=0.37415;gnomADv4_1_AF_joint=0.283083;gnomADv4_1_AF_joint_XX=0.282102;gnomADv4_1_AF_joint_XY=0.28411;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152132;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6864;gnomADv4_1_nhomalt_joint_XX=3495;gnomADv4_1_nhomalt_joint_XY=3369;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28273167 chr22_28273167_T_C T C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.481;CADD_Rawscore=-0.202776;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+23031A>G|||||||rs2223370||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28273167T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+23031A>G|||||||rs2223370||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28273167T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+23031A>G|||||||rs2223370||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28273167T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+23031A>G|||||||rs2223370||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28273167T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+23031A>G|||||||rs2223370||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28273167T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+23031A>G|||||||rs2223370||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28273167T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+23031A>G|||||||rs2223370||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28273167T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+23031A>G|||||||rs2223370||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28273167T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+23031A>G|||||||rs2223370||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28273167T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+23031A>G|||||||rs2223370||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28273167T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+23031A>G|||||||rs2223370||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28273167T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+23031A>G|||||||rs2223370||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28273167T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+23031A>G|||||||rs2223370||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28273167T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|0|-32|1|44;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=123641;gnomADv4_1_AC_joint_XX=63230;gnomADv4_1_AC_joint_XY=60411;gnomADv4_1_AF_grpmax_joint=0.922899;gnomADv4_1_AF_joint=0.812957;gnomADv4_1_AF_joint_XX=0.81308;gnomADv4_1_AF_joint_XY=0.812828;gnomADv4_1_AN_grpmax_joint=41530;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=50763;gnomADv4_1_nhomalt_joint_XX=25994;gnomADv4_1_nhomalt_joint_XY=24769;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28274976 chr22_28274976_T_TA;chr22_28274976_T_TAAA T TA 15 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=15;CADDIndel_PHREDscore=0.541;CADDIndel_Rawscore=-0.173449;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+21221dup|||||||rs34582010||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28275000dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+21221dup|||||||rs34582010||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28275000dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28275000dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28275000dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28275000dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28275000dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28275000dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28275000dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28275000dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28275000dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28275000dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28275000dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28275000dup|||||||||||||;SpliceAI=TA|TTC28|0.00|0.00|0.00|0.00|-3|-7|-3|-7;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5640;gnomADv4_1_AC_joint_XX=3106;gnomADv4_1_AC_joint_XY=2534;gnomADv4_1_AF_grpmax_joint=0.0972222;gnomADv4_1_AF_joint=0.072557;gnomADv4_1_AF_joint_XX=0.0723402;gnomADv4_1_AF_joint_XY=0.0728245;gnomADv4_1_AN_grpmax_joint=72;gnomADv4_1_AN_joint=77732;gnomADv4_1_AN_joint_XX=42936;gnomADv4_1_AN_joint_XY=34796;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=357;gnomADv4_1_nhomalt_joint_XX=189;gnomADv4_1_nhomalt_joint_XY=168;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28274976 chr22_28274976_T_TA;chr22_28274976_T_TAAA T TAAA 15 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=10;CADDIndel_PHREDscore=0.504;CADDIndel_Rawscore=-0.1913;CSQ=AAA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+21219_933+21221dup|||||||rs34582010||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28274998_28275000dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+21219_552+21221dup|||||||rs34582010||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28274998_28275000dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+21219_933+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28274998_28275000dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+21219_933+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28274998_28275000dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+21219_579+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28274998_28275000dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+21219_579+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28274998_28275000dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+21219_855+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28274998_28275000dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+21219_933+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28274998_28275000dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+21219_933+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28274998_28275000dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+21219_933+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28274998_28275000dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+21219_843+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28274998_28275000dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+21219_855+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28274998_28275000dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+21219_627+21221dup|||||||rs34582010||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28274998_28275000dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5321;gnomADv4_1_AC_joint_XX=2935;gnomADv4_1_AC_joint_XY=2386;gnomADv4_1_AF_grpmax_joint=0.110568;gnomADv4_1_AF_joint=0.0684567;gnomADv4_1_AF_joint_XX=0.0683321;gnomADv4_1_AF_joint_XY=0.0686105;gnomADv4_1_AN_grpmax_joint=5526;gnomADv4_1_AN_joint=77728;gnomADv4_1_AN_joint_XX=42952;gnomADv4_1_AN_joint_XY=34776;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=403;gnomADv4_1_nhomalt_joint_XX=222;gnomADv4_1_nhomalt_joint_XY=181;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28276186 chr22_28276186_T_G T G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.835;CADD_Rawscore=0.258421;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+20012A>C|||||||rs5762545||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28276186T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+20012A>C|||||||rs5762545||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28276186T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+20012A>C|||||||rs5762545||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28276186T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+20012A>C|||||||rs5762545||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28276186T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+20012A>C|||||||rs5762545||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28276186T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+20012A>C|||||||rs5762545||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28276186T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+20012A>C|||||||rs5762545||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28276186T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+20012A>C|||||||rs5762545||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28276186T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+20012A>C|||||||rs5762545||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28276186T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+20012A>C|||||||rs5762545||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28276186T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+20012A>C|||||||rs5762545||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28276186T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+20012A>C|||||||rs5762545||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28276186T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+20012A>C|||||||rs5762545||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28276186T>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-12|-4|-12|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47465;gnomADv4_1_AC_joint_XX=24038;gnomADv4_1_AC_joint_XY=23427;gnomADv4_1_AF_grpmax_joint=0.417422;gnomADv4_1_AF_joint=0.313338;gnomADv4_1_AF_joint_XX=0.310184;gnomADv4_1_AF_joint_XY=0.316641;gnomADv4_1_AN_grpmax_joint=15222;gnomADv4_1_AN_joint=151482;gnomADv4_1_AN_joint_XX=77496;gnomADv4_1_AN_joint_XY=73986;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=7797;gnomADv4_1_nhomalt_joint_XX=3871;gnomADv4_1_nhomalt_joint_XY=3926;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28276418 chr22_28276418_G_A G A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.188;CADD_Rawscore=-0.442581;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+19780C>T|||||||rs2056962||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28276418G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+19780C>T|||||||rs2056962||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28276418G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+19780C>T|||||||rs2056962||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28276418G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+19780C>T|||||||rs2056962||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28276418G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+19780C>T|||||||rs2056962||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28276418G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+19780C>T|||||||rs2056962||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28276418G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+19780C>T|||||||rs2056962||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28276418G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+19780C>T|||||||rs2056962||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28276418G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+19780C>T|||||||rs2056962||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28276418G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+19780C>T|||||||rs2056962||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28276418G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+19780C>T|||||||rs2056962||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28276418G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+19780C>T|||||||rs2056962||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28276418G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+19780C>T|||||||rs2056962||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28276418G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|12|35|2|4;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27799;gnomADv4_1_AC_joint_XX=14314;gnomADv4_1_AC_joint_XY=13485;gnomADv4_1_AF_grpmax_joint=0.257995;gnomADv4_1_AF_joint=0.182799;gnomADv4_1_AF_joint_XX=0.184089;gnomADv4_1_AF_joint_XY=0.18145;gnomADv4_1_AN_grpmax_joint=67978;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3264;gnomADv4_1_nhomalt_joint_XX=1683;gnomADv4_1_nhomalt_joint_XY=1581;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28281398 chr22_28281398_TA_T TA T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=0.324;CADDIndel_Rawscore=-0.302496;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+14799del|||||||rs35752085||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28281400del|||||||||||||,-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+14799del|||||||rs35752085||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28281400del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+14799del|||||||rs35752085||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28281400del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+14799del|||||||rs35752085||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28281400del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+14799del|||||||rs35752085||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28281400del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+14799del|||||||rs35752085||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28281400del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+14799del|||||||rs35752085||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28281400del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+14799del|||||||rs35752085||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28281400del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+14799del|||||||rs35752085||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28281400del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+14799del|||||||rs35752085||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28281400del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+14799del|||||||rs35752085||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28281400del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+14799del|||||||rs35752085||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28281400del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+14799del|||||||rs35752085||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28281400del|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-29|22|-29|4;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81550;gnomADv4_1_AC_joint_XX=41781;gnomADv4_1_AC_joint_XY=39769;gnomADv4_1_AF_grpmax_joint=0.622688;gnomADv4_1_AF_joint=0.537227;gnomADv4_1_AF_joint_XX=0.538373;gnomADv4_1_AF_joint_XY=0.536028;gnomADv4_1_AN_grpmax_joint=41422;gnomADv4_1_AN_joint=151798;gnomADv4_1_AN_joint_XX=77606;gnomADv4_1_AN_joint_XY=74192;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22320;gnomADv4_1_nhomalt_joint_XX=11338;gnomADv4_1_nhomalt_joint_XY=10982;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28283325 chr22_28283325_T_TAC T TAC 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.824;CADDIndel_Rawscore=-0.067642;CSQ=AC|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+12871_933+12872dup|||||||rs35766225||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28283348_28283349dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+12871_552+12872dup|||||||rs35766225||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28283348_28283349dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+12871_933+12872dup|||||||rs35766225||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28283348_28283349dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+12871_933+12872dup|||||||rs35766225||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28283348_28283349dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+12871_579+12872dup|||||||rs35766225||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28283348_28283349dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+12871_579+12872dup|||||||rs35766225||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28283348_28283349dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+12871_855+12872dup|||||||rs35766225||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28283348_28283349dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+12871_933+12872dup|||||||rs35766225||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28283348_28283349dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+12871_933+12872dup|||||||rs35766225||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28283348_28283349dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+12871_933+12872dup|||||||rs35766225||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28283348_28283349dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+12871_843+12872dup|||||||rs35766225||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28283348_28283349dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+12871_855+12872dup|||||||rs35766225||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28283348_28283349dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+12871_627+12872dup|||||||rs35766225||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28283348_28283349dup|||||||||||||,AC|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F84S|enhancer||||||||||rs35766225|||||||||||||||||||||chr22:g.28283348_28283349dup|||||||||||||;TYPE=INDEL;VEP_Allele=AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,ENSR22_9F84S;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=67263;gnomADv4_1_AC_joint_XX=34731;gnomADv4_1_AC_joint_XY=32532;gnomADv4_1_AF_grpmax_joint=0.655172;gnomADv4_1_AF_joint=0.449962;gnomADv4_1_AF_joint_XX=0.453194;gnomADv4_1_AF_joint_XY=0.446561;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=149486;gnomADv4_1_AN_joint_XX=76636;gnomADv4_1_AN_joint_XY=72850;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=16139;gnomADv4_1_nhomalt_joint_XX=8393;gnomADv4_1_nhomalt_joint_XY=7746;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28283341 chr22_28283341_C_CAT C CAT 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.298;CADDIndel_Rawscore=-0.323331;CSQ=AT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+12856_933+12857insAT|||||||rs1194353344||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28283342_28283343insTA|||||||||||||,AT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+12856_552+12857insAT|||||||rs1194353344||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28283342_28283343insTA|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+12856_933+12857insAT|||||||rs1194353344||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28283342_28283343insTA|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+12856_933+12857insAT|||||||rs1194353344||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28283342_28283343insTA|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+12856_579+12857insAT|||||||rs1194353344||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28283342_28283343insTA|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+12856_579+12857insAT|||||||rs1194353344||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28283342_28283343insTA|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+12856_855+12857insAT|||||||rs1194353344||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28283342_28283343insTA|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+12856_933+12857insAT|||||||rs1194353344||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28283342_28283343insTA|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+12856_933+12857insAT|||||||rs1194353344||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28283342_28283343insTA|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+12856_933+12857insAT|||||||rs1194353344||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28283342_28283343insTA|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+12856_843+12857insAT|||||||rs1194353344||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28283342_28283343insTA|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+12856_855+12857insAT|||||||rs1194353344||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28283342_28283343insTA|||||||||||||,AT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+12856_627+12857insAT|||||||rs1194353344||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28283342_28283343insTA|||||||||||||,AT|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F84S|enhancer||||||||||rs1194353344|||||||||||||||||||||chr22:g.28283342_28283343insTA|||||||||||||;TYPE=INDEL;VEP_Allele=AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,ENSR22_9F84S;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4;gnomADv4_1_AC_joint_XX=4;gnomADv4_1_AC_joint_XY=0;gnomADv4_1_AF_grpmax_joint=2.41639e-05;gnomADv4_1_AF_joint=2.63276e-05;gnomADv4_1_AF_joint_XX=5.14642e-05;gnomADv4_1_AF_joint_XY=0.0;gnomADv4_1_AN_grpmax_joint=41384;gnomADv4_1_AN_joint=151932;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28283343 chr22_28283343_C_A C A 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.498;CADD_Rawscore=-0.193907;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+12855G>T|||||||rs918137251||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28283343C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+12855G>T|||||||rs918137251||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28283343C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+12855G>T|||||||rs918137251||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28283343C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+12855G>T|||||||rs918137251||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28283343C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+12855G>T|||||||rs918137251||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28283343C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+12855G>T|||||||rs918137251||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28283343C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+12855G>T|||||||rs918137251||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28283343C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+12855G>T|||||||rs918137251||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28283343C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+12855G>T|||||||rs918137251||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28283343C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+12855G>T|||||||rs918137251||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28283343C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+12855G>T|||||||rs918137251||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28283343C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+12855G>T|||||||rs918137251||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28283343C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+12855G>T|||||||rs918137251||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28283343C>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F84S|enhancer||||||||||rs918137251|||||||||||||||||||||chr22:g.28283343C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|13|6|-40|5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,ENSR22_9F84S;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4;gnomADv4_1_AC_joint_XX=4;gnomADv4_1_AC_joint_XY=0;gnomADv4_1_AF_grpmax_joint=2.41674e-05;gnomADv4_1_AF_joint=2.63265e-05;gnomADv4_1_AF_joint_XX=5.14734e-05;gnomADv4_1_AF_joint_XY=0.0;gnomADv4_1_AN_grpmax_joint=41378;gnomADv4_1_AN_joint=151938;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28286628 chr22_28286628_T_C T C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.475;CADD_Rawscore=0.318486;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+9570A>G|||||||rs6005754||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28286628T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+9570A>G|||||||rs6005754||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28286628T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+9570A>G|||||||rs6005754||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28286628T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+9570A>G|||||||rs6005754||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28286628T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+9570A>G|||||||rs6005754||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28286628T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+9570A>G|||||||rs6005754||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28286628T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+9570A>G|||||||rs6005754||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28286628T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+9570A>G|||||||rs6005754||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28286628T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+9570A>G|||||||rs6005754||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28286628T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+9570A>G|||||||rs6005754||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28286628T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+9570A>G|||||||rs6005754||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28286628T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+9570A>G|||||||rs6005754||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28286628T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+9570A>G|||||||rs6005754||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28286628T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|46|-42|1|7;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82660;gnomADv4_1_AC_joint_XX=42310;gnomADv4_1_AC_joint_XY=40350;gnomADv4_1_AF_grpmax_joint=0.689268;gnomADv4_1_AF_joint=0.54388;gnomADv4_1_AF_joint_XX=0.544474;gnomADv4_1_AF_joint_XY=0.543259;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=151982;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=23157;gnomADv4_1_nhomalt_joint_XX=11887;gnomADv4_1_nhomalt_joint_XY=11270;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28288812 chr22_28288812_C_CA C CA 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.755;CADDIndel_Rawscore=-0.089685;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+7385dup|||||||rs397953776||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28288827dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+7385dup|||||||rs397953776||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28288827dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+7385dup|||||||rs397953776||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28288827dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+7385dup|||||||rs397953776||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28288827dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+7385dup|||||||rs397953776||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28288827dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+7385dup|||||||rs397953776||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28288827dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+7385dup|||||||rs397953776||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28288827dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+7385dup|||||||rs397953776||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28288827dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+7385dup|||||||rs397953776||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28288827dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+7385dup|||||||rs397953776||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28288827dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+7385dup|||||||rs397953776||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28288827dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+7385dup|||||||rs397953776||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28288827dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+7385dup|||||||rs397953776||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28288827dup|||||||||||||;SpliceAI=CA|TTC28|0.00|0.00|0.00|0.00|16|-3|-27|-7;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48573;gnomADv4_1_AC_joint_XX=25312;gnomADv4_1_AC_joint_XY=23261;gnomADv4_1_AF_grpmax_joint=0.584746;gnomADv4_1_AF_joint=0.43166;gnomADv4_1_AF_joint_XX=0.431048;gnomADv4_1_AF_joint_XY=0.432328;gnomADv4_1_AN_grpmax_joint=236;gnomADv4_1_AN_joint=112526;gnomADv4_1_AN_joint_XX=58722;gnomADv4_1_AN_joint_XY=53804;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9495;gnomADv4_1_nhomalt_joint_XX=5005;gnomADv4_1_nhomalt_joint_XY=4490;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28292815 chr22_28292815_C_T C T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=8.612;CADD_Rawscore=0.834274;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+3383G>A|||||||rs1382711074||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28292815C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||||||||||rs1382711074|3399|-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28292815C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+3383G>A|||||||rs1382711074||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28292815C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+3383G>A|||||||rs1382711074||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28292815C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+3383G>A|||||||rs1382711074||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28292815C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+3383G>A|||||||rs1382711074||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28292815C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+3383G>A|||||||rs1382711074||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28292815C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+3383G>A|||||||rs1382711074||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28292815C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+3383G>A|||||||rs1382711074||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28292815C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+3383G>A|||||||rs1382711074||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28292815C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+3383G>A|||||||rs1382711074||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28292815C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+3383G>A|||||||rs1382711074||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28292815C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+3383G>A|||||||rs1382711074||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28292815C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+3383G>A|||||||rs1382711074||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28292815C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-40|0|-40|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5;gnomADv4_1_AC_joint_XX=2;gnomADv4_1_AC_joint_XY=3;gnomADv4_1_AF_joint=3.28679e-05;gnomADv4_1_AF_joint_XX=2.5705e-05;gnomADv4_1_AF_joint_XY=4.03671e-05;gnomADv4_1_AN_joint=152124;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28295693 chr22_28295693_A_G A G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=3.962;CADD_Rawscore=0.361833;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||5/22|ENST00000397906.7:c.933+505T>C|||||||rs5752718||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28295693A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||||||||||rs5752718|521|-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28295693A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||3/20|ENST00000612946.4:c.552+505T>C|||||||rs5752718||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28295693A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||5/22|NM_001145418.2:c.933+505T>C|||||||rs5752718||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28295693A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||5/21|NM_001393403.1:c.933+505T>C|||||||rs5752718||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28295693A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||4/21|NM_001393404.1:c.579+505T>C|||||||rs5752718||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28295693A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||4/20|NM_001393405.1:c.579+505T>C|||||||rs5752718||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28295693A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||5/22|XM_011530018.4:c.855+505T>C|||||||rs5752718||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28295693A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||5/14|XM_011530019.3:c.933+505T>C|||||||rs5752718||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28295693A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||5/13|XM_011530020.2:c.933+505T>C|||||||rs5752718||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28295693A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||5/14|XM_011530021.4:c.933+505T>C|||||||rs5752718||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28295693A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||5/22|XM_017028673.3:c.843+505T>C|||||||rs5752718||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28295693A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||5/21|XM_047441214.1:c.855+505T>C|||||||rs5752718||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28295693A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||5/22|XM_047441215.1:c.627+505T>C|||||||rs5752718||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28295693A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-23|49|41|49;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000490475,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39857;gnomADv4_1_AC_joint_XX=20403;gnomADv4_1_AC_joint_XY=19454;gnomADv4_1_AF_grpmax_joint=0.300589;gnomADv4_1_AF_joint=0.262138;gnomADv4_1_AF_joint_XX=0.262567;gnomADv4_1_AF_joint_XY=0.26169;gnomADv4_1_AN_grpmax_joint=41422;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5311;gnomADv4_1_nhomalt_joint_XX=2694;gnomADv4_1_nhomalt_joint_XY=2617;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28297508 chr22_28297508_T_C T C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.273;CADD_Rawscore=-0.346189;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||4/22|ENST00000397906.7:c.802+72A>G|||||||rs5762549||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28297508T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||3/3|ENST00000490475.1:n.609+72A>G|||||||rs5762549||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28297508T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||2/20|ENST00000612946.4:c.421+72A>G|||||||rs5762549||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28297508T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||4/22|NM_001145418.2:c.802+72A>G|||||||rs5762549||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28297508T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||4/21|NM_001393403.1:c.802+72A>G|||||||rs5762549||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28297508T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||3/21|NM_001393404.1:c.448+72A>G|||||||rs5762549||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28297508T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||3/20|NM_001393405.1:c.448+72A>G|||||||rs5762549||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28297508T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||4/22|XM_011530018.4:c.724+72A>G|||||||rs5762549||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28297508T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||4/14|XM_011530019.3:c.802+72A>G|||||||rs5762549||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28297508T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||4/13|XM_011530020.2:c.802+72A>G|||||||rs5762549||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28297508T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||4/14|XM_011530021.4:c.802+72A>G|||||||rs5762549||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28297508T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||4/22|XM_017028673.3:c.712+72A>G|||||||rs5762549||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28297508T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||4/21|XM_047441214.1:c.724+72A>G|||||||rs5762549||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28297508T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||4/22|XM_047441215.1:c.496+72A>G|||||||rs5762549||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28297508T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|1|46|1|-16;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=257354;gnomADv4_1_AC_joint_XX=129936;gnomADv4_1_AC_joint_XY=127418;gnomADv4_1_AF_grpmax_joint=0.364355;gnomADv4_1_AF_joint=0.17404;gnomADv4_1_AF_joint_XX=0.172212;gnomADv4_1_AF_joint_XY=0.175944;gnomADv4_1_AN_grpmax_joint=40252;gnomADv4_1_AN_joint=1478710;gnomADv4_1_AN_joint_XX=754514;gnomADv4_1_AN_joint_XY=724196;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24987;gnomADv4_1_nhomalt_joint_XX=12454;gnomADv4_1_nhomalt_joint_XY=12533;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28298222 chr22_28298222_C_T C T 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.443;CADD_Rawscore=-0.22357;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||3/22|ENST00000397906.7:c.530-370G>A|||||||rs1072967||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28298222C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||2/3|ENST00000490475.1:n.337-370G>A|||||||rs1072967||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28298222C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||1/20|ENST00000612946.4:c.149-370G>A|||||||rs1072967||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||C|C||||chr22:g.28298222C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||3/22|NM_001145418.2:c.530-370G>A|||||||rs1072967||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28298222C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||3/21|NM_001393403.1:c.530-370G>A|||||||rs1072967||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28298222C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||2/21|NM_001393404.1:c.176-370G>A|||||||rs1072967||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28298222C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||2/20|NM_001393405.1:c.176-370G>A|||||||rs1072967||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28298222C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||3/22|XM_011530018.4:c.452-370G>A|||||||rs1072967||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28298222C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||3/14|XM_011530019.3:c.530-370G>A|||||||rs1072967||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28298222C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||3/13|XM_011530020.2:c.530-370G>A|||||||rs1072967||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28298222C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||3/14|XM_011530021.4:c.530-370G>A|||||||rs1072967||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28298222C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||3/22|XM_017028673.3:c.440-370G>A|||||||rs1072967||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28298222C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||3/21|XM_047441214.1:c.452-370G>A|||||||rs1072967||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28298222C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||3/22|XM_047441215.1:c.224-370G>A|||||||rs1072967||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28298222C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|29|5|-27|5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8759;gnomADv4_1_AC_joint_XX=4299;gnomADv4_1_AC_joint_XY=4460;gnomADv4_1_AF_grpmax_joint=0.139925;gnomADv4_1_AF_joint=0.0575213;gnomADv4_1_AF_joint_XX=0.0552542;gnomADv4_1_AF_joint_XY=0.0598899;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152274;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74470;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=369;gnomADv4_1_nhomalt_joint_XX=166;gnomADv4_1_nhomalt_joint_XY=203;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28302039 chr22_28302039_A_AAAT A AAAT 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=1.922;CADDIndel_Rawscore=0.153407;CSQ=AAT|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000199797|Transcript|ENST00000362927|misc_RNA||||||||||rs10656307|1714|1||RFAM||||||||||Ensembl|||||||chr22:g.28302065_28302067dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||3/22|ENST00000397906.7:c.530-4190_530-4188dup|||||||rs10656307||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28302065_28302067dup|||||||||||||,AAT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||2/3|ENST00000490475.1:n.337-4190_337-4188dup|||||||rs10656307||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28302065_28302067dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||1/20|ENST00000612946.4:c.149-4190_149-4188dup|||||||rs10656307||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28302065_28302067dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||3/22|NM_001145418.2:c.530-4190_530-4188dup|||||||rs10656307||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28302065_28302067dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||3/21|NM_001393403.1:c.530-4190_530-4188dup|||||||rs10656307||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28302065_28302067dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||2/21|NM_001393404.1:c.176-4190_176-4188dup|||||||rs10656307||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28302065_28302067dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||2/20|NM_001393405.1:c.176-4190_176-4188dup|||||||rs10656307||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28302065_28302067dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||3/22|XM_011530018.4:c.452-4190_452-4188dup|||||||rs10656307||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28302065_28302067dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||3/14|XM_011530019.3:c.530-4190_530-4188dup|||||||rs10656307||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28302065_28302067dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||3/13|XM_011530020.2:c.530-4190_530-4188dup|||||||rs10656307||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28302065_28302067dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||3/14|XM_011530021.4:c.530-4190_530-4188dup|||||||rs10656307||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28302065_28302067dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||3/22|XM_017028673.3:c.440-4190_440-4188dup|||||||rs10656307||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28302065_28302067dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||3/21|XM_047441214.1:c.452-4190_452-4188dup|||||||rs10656307||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28302065_28302067dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||3/22|XM_047441215.1:c.224-4190_224-4188dup|||||||rs10656307||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28302065_28302067dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAT,AAT,AAT,AAT,AAT,AAT,AAT,AAT,AAT,AAT,AAT,AAT,AAT,AAT,AAT;VEP_Feature=ENST00000362927,ENST00000397906,ENST00000490475,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000199797,ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=Y_RNA,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70317;gnomADv4_1_AC_joint_XX=36099;gnomADv4_1_AC_joint_XY=34218;gnomADv4_1_AF_grpmax_joint=0.579746;gnomADv4_1_AF_joint=0.483531;gnomADv4_1_AF_joint_XX=0.482439;gnomADv4_1_AF_joint_XY=0.484688;gnomADv4_1_AN_grpmax_joint=4414;gnomADv4_1_AN_joint=145424;gnomADv4_1_AN_joint_XX=74826;gnomADv4_1_AN_joint_XY=70598;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=17780;gnomADv4_1_nhomalt_joint_XX=9141;gnomADv4_1_nhomalt_joint_XY=8639;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28303136 chr22_28303136_G_A G A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=11.09;CADD_Rawscore=1.06985;CSQ=A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000199797|Transcript|ENST00000362927|misc_RNA||||||||||rs5762552|618|1||RFAM||||||||||Ensembl||G|G||||chr22:g.28303136G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||3/22|ENST00000397906.7:c.529+3360C>T|||||||rs5762552||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28303136G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||2/3|ENST00000490475.1:n.336+3360C>T|||||||rs5762552||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28303136G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||1/20|ENST00000612946.4:c.148+3360C>T|||||||rs5762552||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||G|G||||chr22:g.28303136G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||3/22|NM_001145418.2:c.529+3360C>T|||||||rs5762552||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28303136G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||3/21|NM_001393403.1:c.529+3360C>T|||||||rs5762552||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28303136G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||2/21|NM_001393404.1:c.175+3360C>T|||||||rs5762552||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28303136G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||2/20|NM_001393405.1:c.175+3360C>T|||||||rs5762552||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28303136G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||3/22|XM_011530018.4:c.451+3360C>T|||||||rs5762552||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28303136G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||3/14|XM_011530019.3:c.529+3360C>T|||||||rs5762552||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28303136G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||3/13|XM_011530020.2:c.529+3360C>T|||||||rs5762552||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28303136G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||3/14|XM_011530021.4:c.529+3360C>T|||||||rs5762552||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28303136G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||3/22|XM_017028673.3:c.439+3360C>T|||||||rs5762552||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28303136G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||3/21|XM_047441214.1:c.451+3360C>T|||||||rs5762552||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28303136G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||3/22|XM_047441215.1:c.223+3360C>T|||||||rs5762552||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28303136G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-5|19|2|-14;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000362927,ENST00000397906,ENST00000490475,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000199797,ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=Y_RNA,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29822;gnomADv4_1_AC_joint_XX=15015;gnomADv4_1_AC_joint_XY=14807;gnomADv4_1_AF_grpmax_joint=0.339078;gnomADv4_1_AF_joint=0.196071;gnomADv4_1_AF_joint_XX=0.193134;gnomADv4_1_AF_joint_XY=0.199142;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3460;gnomADv4_1_nhomalt_joint_XX=1664;gnomADv4_1_nhomalt_joint_XY=1796;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28303856 chr22_28303856_C_CA C CA 24 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=24;CADDIndel_PHREDscore=0.463;CADDIndel_Rawscore=-0.212291;CSQ=A|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000199797|Transcript|ENST00000362927|misc_RNA||||||||||rs202209435|6|1||RFAM||||||||||Ensembl|||||||chr22:g.28303873dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||3/22|ENST00000397906.7:c.529+2639dup|||||||rs202209435||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28303873dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||2/3|ENST00000490475.1:n.336+2639dup|||||||rs202209435||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28303873dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||1/20|ENST00000612946.4:c.148+2639dup|||||||rs202209435||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28303873dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||3/22|NM_001145418.2:c.529+2639dup|||||||rs202209435||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28303873dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||3/21|NM_001393403.1:c.529+2639dup|||||||rs202209435||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28303873dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||2/21|NM_001393404.1:c.175+2639dup|||||||rs202209435||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28303873dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||2/20|NM_001393405.1:c.175+2639dup|||||||rs202209435||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28303873dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||3/22|XM_011530018.4:c.451+2639dup|||||||rs202209435||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28303873dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||3/14|XM_011530019.3:c.529+2639dup|||||||rs202209435||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28303873dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||3/13|XM_011530020.2:c.529+2639dup|||||||rs202209435||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28303873dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||3/14|XM_011530021.4:c.529+2639dup|||||||rs202209435||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28303873dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||3/22|XM_017028673.3:c.439+2639dup|||||||rs202209435||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28303873dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||3/21|XM_047441214.1:c.451+2639dup|||||||rs202209435||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28303873dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||3/22|XM_047441215.1:c.223+2639dup|||||||rs202209435||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28303873dup|||||||||||||;SpliceAI=CA|TTC28|0.00|0.00|0.00|0.00|-26|-11|21|34;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000362927,ENST00000397906,ENST00000490475,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000199797,ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=Y_RNA,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37825;gnomADv4_1_AC_joint_XX=19527;gnomADv4_1_AC_joint_XY=18298;gnomADv4_1_AF_grpmax_joint=0.529167;gnomADv4_1_AF_joint=0.380886;gnomADv4_1_AF_joint_XX=0.376955;gnomADv4_1_AF_joint_XY=0.385172;gnomADv4_1_AN_grpmax_joint=10800;gnomADv4_1_AN_joint=99308;gnomADv4_1_AN_joint_XX=51802;gnomADv4_1_AN_joint_XY=47506;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=5781;gnomADv4_1_nhomalt_joint_XX=2966;gnomADv4_1_nhomalt_joint_XY=2815;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28304974 chr22_28304974_A_T A T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=5.75;CADD_Rawscore=0.528169;CSQ=T|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000199797|Transcript|ENST00000362927|misc_RNA||||||||||rs139101284|1124|1||RFAM||||||||||Ensembl||A|A||||chr22:g.28304974A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||3/22|ENST00000397906.7:c.529+1522T>A|||||||rs139101284||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28304974A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||2/3|ENST00000490475.1:n.336+1522T>A|||||||rs139101284||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28304974A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||1/20|ENST00000612946.4:c.148+1522T>A|||||||rs139101284||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28304974A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||3/22|NM_001145418.2:c.529+1522T>A|||||||rs139101284||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28304974A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||3/21|NM_001393403.1:c.529+1522T>A|||||||rs139101284||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28304974A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||2/21|NM_001393404.1:c.175+1522T>A|||||||rs139101284||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28304974A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||2/20|NM_001393405.1:c.175+1522T>A|||||||rs139101284||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28304974A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||3/22|XM_011530018.4:c.451+1522T>A|||||||rs139101284||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28304974A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||3/14|XM_011530019.3:c.529+1522T>A|||||||rs139101284||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28304974A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||3/13|XM_011530020.2:c.529+1522T>A|||||||rs139101284||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28304974A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||3/14|XM_011530021.4:c.529+1522T>A|||||||rs139101284||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28304974A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||3/22|XM_017028673.3:c.439+1522T>A|||||||rs139101284||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28304974A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||3/21|XM_047441214.1:c.451+1522T>A|||||||rs139101284||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28304974A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||3/22|XM_047441215.1:c.223+1522T>A|||||||rs139101284||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28304974A>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|48|-28|48|26;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000362927,ENST00000397906,ENST00000490475,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000199797,ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=Y_RNA,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23074;gnomADv4_1_AC_joint_XX=11809;gnomADv4_1_AC_joint_XY=11265;gnomADv4_1_AF_grpmax_joint=0.241944;gnomADv4_1_AF_joint=0.173685;gnomADv4_1_AF_joint_XX=0.173544;gnomADv4_1_AF_joint_XY=0.173832;gnomADv4_1_AN_grpmax_joint=60324;gnomADv4_1_AN_joint=132850;gnomADv4_1_AN_joint_XX=68046;gnomADv4_1_AN_joint_XY=64804;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2308;gnomADv4_1_nhomalt_joint_XX=1182;gnomADv4_1_nhomalt_joint_XY=1126;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28304975 chr22_28304975_T_A T A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=5.691;CADD_Rawscore=0.522269;CSQ=A|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000199797|Transcript|ENST00000362927|misc_RNA||||||||||rs146423843|1125|1||RFAM||||||||||Ensembl||T|T||||chr22:g.28304975T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||3/22|ENST00000397906.7:c.529+1521A>T|||||||rs146423843||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28304975T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||2/3|ENST00000490475.1:n.336+1521A>T|||||||rs146423843||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28304975T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||1/20|ENST00000612946.4:c.148+1521A>T|||||||rs146423843||-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||T|T||||chr22:g.28304975T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||3/22|NM_001145418.2:c.529+1521A>T|||||||rs146423843||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28304975T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||3/21|NM_001393403.1:c.529+1521A>T|||||||rs146423843||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28304975T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||2/21|NM_001393404.1:c.175+1521A>T|||||||rs146423843||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28304975T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||2/20|NM_001393405.1:c.175+1521A>T|||||||rs146423843||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28304975T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||3/22|XM_011530018.4:c.451+1521A>T|||||||rs146423843||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28304975T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||3/14|XM_011530019.3:c.529+1521A>T|||||||rs146423843||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28304975T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||3/13|XM_011530020.2:c.529+1521A>T|||||||rs146423843||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28304975T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||3/14|XM_011530021.4:c.529+1521A>T|||||||rs146423843||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28304975T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||3/22|XM_017028673.3:c.439+1521A>T|||||||rs146423843||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28304975T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||3/21|XM_047441214.1:c.451+1521A>T|||||||rs146423843||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28304975T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||3/22|XM_047441215.1:c.223+1521A>T|||||||rs146423843||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28304975T>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-32|47|29|47;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000362927,ENST00000397906,ENST00000490475,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000199797,ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=Y_RNA,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23056;gnomADv4_1_AC_joint_XX=11801;gnomADv4_1_AC_joint_XY=11255;gnomADv4_1_AF_grpmax_joint=0.241001;gnomADv4_1_AF_joint=0.172945;gnomADv4_1_AF_joint_XX=0.172878;gnomADv4_1_AF_joint_XY=0.173015;gnomADv4_1_AN_grpmax_joint=60510;gnomADv4_1_AN_joint=133314;gnomADv4_1_AN_joint_XX=68262;gnomADv4_1_AN_joint_XY=65052;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2307;gnomADv4_1_nhomalt_joint_XX=1182;gnomADv4_1_nhomalt_joint_XY=1125;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28308373 chr22_28308373_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.354;CADD_Rawscore=-0.28027;CSQ=G|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000199797|Transcript|ENST00000362927|misc_RNA||||||||||rs5762553|4523|1||RFAM||||||||||Ensembl||A|A||||chr22:g.28308373A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-1730T>C|||||||rs5762553||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28308373A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-1730T>C|||||||rs5762553||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28308373A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||||||||||rs5762553|1728|-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28308373A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-1730T>C|||||||rs5762553||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28308373A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-1730T>C|||||||rs5762553||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28308373A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-1730T>C|||||||rs5762553||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28308373A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-1730T>C|||||||rs5762553||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28308373A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-1730T>C|||||||rs5762553||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28308373A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-1730T>C|||||||rs5762553||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28308373A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-1730T>C|||||||rs5762553||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28308373A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-1730T>C|||||||rs5762553||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28308373A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-1730T>C|||||||rs5762553||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28308373A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-1730T>C|||||||rs5762553||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28308373A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-1730T>C|||||||rs5762553||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28308373A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-20|32|-2|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000362927,ENST00000397906,ENST00000490475,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000199797,ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=Y_RNA,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=76553;gnomADv4_1_AC_joint_XX=38958;gnomADv4_1_AC_joint_XY=37595;gnomADv4_1_AF_grpmax_joint=0.571288;gnomADv4_1_AF_joint=0.503632;gnomADv4_1_AF_joint_XX=0.501325;gnomADv4_1_AF_joint_XY=0.506044;gnomADv4_1_AN_grpmax_joint=15262;gnomADv4_1_AN_joint=152002;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=19545;gnomADv4_1_nhomalt_joint_XX=9900;gnomADv4_1_nhomalt_joint_XY=9645;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28310169 chr22_28310169_CACACAA_C CACACAA C 21 MONOALLELIC AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=21;CADDIndel_PHREDscore=0.816;CADDIndel_Rawscore=-0.070204;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-3532_382-3527del|||||||rs199616953||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||ACACAA|ACACAA||||chr22:g.28310171_28310176del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-3532_189-3527del|||||||rs199616953||-1||HGNC|HGNC:29179|5||||||||Ensembl||ACACAA|ACACAA||||chr22:g.28310171_28310176del|||||||||||||,-|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||||||||||rs199616953|3525|-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||ACACAA|ACACAA||||chr22:g.28310171_28310176del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-3532_382-3527del|||||||rs199616953||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||ACACAA|ACACAA||||chr22:g.28310171_28310176del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-3532_382-3527del|||||||rs199616953||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||ACACAA|ACACAA||||chr22:g.28310171_28310176del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-3532_28-3527del|||||||rs199616953||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||ACACAA|ACACAA||||chr22:g.28310171_28310176del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-3532_28-3527del|||||||rs199616953||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||ACACAA|ACACAA||||chr22:g.28310171_28310176del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-3532_304-3527del|||||||rs199616953||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||ACACAA|ACACAA||||chr22:g.28310171_28310176del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-3532_382-3527del|||||||rs199616953||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||ACACAA|ACACAA||||chr22:g.28310171_28310176del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-3532_382-3527del|||||||rs199616953||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||ACACAA|ACACAA||||chr22:g.28310171_28310176del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-3532_382-3527del|||||||rs199616953||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||ACACAA|ACACAA||||chr22:g.28310171_28310176del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-3532_292-3527del|||||||rs199616953||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||ACACAA|ACACAA||||chr22:g.28310171_28310176del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-3532_304-3527del|||||||rs199616953||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||ACACAA|ACACAA||||chr22:g.28310171_28310176del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-3532_76-3527del|||||||rs199616953||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||ACACAA|ACACAA||||chr22:g.28310171_28310176del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17501;gnomADv4_1_AC_joint_XX=9069;gnomADv4_1_AC_joint_XY=8432;gnomADv4_1_AF_grpmax_joint=0.246364;gnomADv4_1_AF_joint=0.122186;gnomADv4_1_AF_joint_XX=0.122846;gnomADv4_1_AF_joint_XY=0.121485;gnomADv4_1_AN_grpmax_joint=4538;gnomADv4_1_AN_joint=143232;gnomADv4_1_AN_joint_XX=73824;gnomADv4_1_AN_joint_XY=69408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1129;gnomADv4_1_nhomalt_joint_XX=573;gnomADv4_1_nhomalt_joint_XY=556;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28310174 chr22_28310174_A_AC A AC 22 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=22;CADDIndel_PHREDscore=0.751;CADDIndel_Rawscore=-0.091292;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-3532_382-3531insG|||||||rs56832222||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28310174_28310175insC|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-3532_189-3531insG|||||||rs56832222||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28310174_28310175insC|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||||||||||rs56832222|3529|-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28310174_28310175insC|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-3532_382-3531insG|||||||rs56832222||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28310174_28310175insC|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-3532_382-3531insG|||||||rs56832222||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28310174_28310175insC|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-3532_28-3531insG|||||||rs56832222||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28310174_28310175insC|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-3532_28-3531insG|||||||rs56832222||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28310174_28310175insC|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-3532_304-3531insG|||||||rs56832222||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28310174_28310175insC|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-3532_382-3531insG|||||||rs56832222||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28310174_28310175insC|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-3532_382-3531insG|||||||rs56832222||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28310174_28310175insC|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-3532_382-3531insG|||||||rs56832222||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28310174_28310175insC|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-3532_292-3531insG|||||||rs56832222||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28310174_28310175insC|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-3532_304-3531insG|||||||rs56832222||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28310174_28310175insC|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-3532_76-3531insG|||||||rs56832222||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28310174_28310175insC|||||||||||||;SpliceAI=AC|TTC28|0.00|0.00|0.00|0.00|29|20|35|-30;TYPE=INDEL;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35638;gnomADv4_1_AC_joint_XX=18546;gnomADv4_1_AC_joint_XY=17092;gnomADv4_1_AF_grpmax_joint=0.451513;gnomADv4_1_AF_joint=0.427335;gnomADv4_1_AF_joint_XX=0.427702;gnomADv4_1_AF_joint_XY=0.426937;gnomADv4_1_AN_grpmax_joint=19098;gnomADv4_1_AN_joint=83396;gnomADv4_1_AN_joint_XX=43362;gnomADv4_1_AN_joint_XY=40034;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4819;gnomADv4_1_nhomalt_joint_XX=2488;gnomADv4_1_nhomalt_joint_XY=2331;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28310175 chr22_28310175_A_ACAC;chr22_28310175_A_C A C 26 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=21;CADD_PHREDscore=0.145;CADD_Rawscore=-0.512568;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-3532T>G|||||||rs1297605||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28310175A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-3532T>G|||||||rs1297605||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28310175A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||||||||||rs1297605|3530|-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl||A|A||||chr22:g.28310175A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-3532T>G|||||||rs1297605||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28310175A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-3532T>G|||||||rs1297605||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28310175A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-3532T>G|||||||rs1297605||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28310175A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-3532T>G|||||||rs1297605||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28310175A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-3532T>G|||||||rs1297605||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28310175A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-3532T>G|||||||rs1297605||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28310175A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-3532T>G|||||||rs1297605||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28310175A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-3532T>G|||||||rs1297605||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28310175A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-3532T>G|||||||rs1297605||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28310175A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-3532T>G|||||||rs1297605||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28310175A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-3532T>G|||||||rs1297605||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28310175A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|34|19|34|19;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54496;gnomADv4_1_AC_joint_XX=28135;gnomADv4_1_AC_joint_XY=26361;gnomADv4_1_AF_grpmax_joint=0.523638;gnomADv4_1_AF_joint=0.441657;gnomADv4_1_AF_joint_XX=0.440256;gnomADv4_1_AF_joint_XY=0.443161;gnomADv4_1_AN_grpmax_joint=2496;gnomADv4_1_AN_joint=123390;gnomADv4_1_AN_joint_XX=63906;gnomADv4_1_AN_joint_XY=59484;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10555;gnomADv4_1_nhomalt_joint_XX=5446;gnomADv4_1_nhomalt_joint_XY=5109;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28310175 chr22_28310175_A_ACAC;chr22_28310175_A_C A ACAC 26 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=26;CADDIndel_PHREDscore=0.588;CADDIndel_Rawscore=-0.152746;CSQ=CAC|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-3533_382-3532insGTG|||||||rs66509137||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28310175_28310176insCAC|||||||||||||,CAC|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-3533_189-3532insGTG|||||||rs66509137||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28310175_28310176insCAC|||||||||||||,CAC|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000612946|protein_coding||||||||||rs66509137|3530|-1||HGNC|HGNC:29179|5||ENSP00000479834||A0A087WW06.66|UPI00015DF7CA|||Ensembl|||||||chr22:g.28310175_28310176insCAC|||||||||||||,CAC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-3533_382-3532insGTG|||||||rs66509137||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28310175_28310176insCAC|||||||||||||,CAC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-3533_382-3532insGTG|||||||rs66509137||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28310175_28310176insCAC|||||||||||||,CAC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-3533_28-3532insGTG|||||||rs66509137||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28310175_28310176insCAC|||||||||||||,CAC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-3533_28-3532insGTG|||||||rs66509137||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28310175_28310176insCAC|||||||||||||,CAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-3533_304-3532insGTG|||||||rs66509137||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28310175_28310176insCAC|||||||||||||,CAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-3533_382-3532insGTG|||||||rs66509137||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28310175_28310176insCAC|||||||||||||,CAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-3533_382-3532insGTG|||||||rs66509137||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28310175_28310176insCAC|||||||||||||,CAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-3533_382-3532insGTG|||||||rs66509137||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28310175_28310176insCAC|||||||||||||,CAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-3533_292-3532insGTG|||||||rs66509137||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28310175_28310176insCAC|||||||||||||,CAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-3533_304-3532insGTG|||||||rs66509137||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28310175_28310176insCAC|||||||||||||,CAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-3533_76-3532insGTG|||||||rs66509137||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28310175_28310176insCAC|||||||||||||;TYPE=INDEL;VEP_Allele=CAC,CAC,CAC,CAC,CAC,CAC,CAC,CAC,CAC,CAC,CAC,CAC,CAC,CAC;VEP_Feature=ENST00000397906,ENST00000490475,ENST00000612946,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7990;gnomADv4_1_AC_joint_XX=4289;gnomADv4_1_AC_joint_XY=3701;gnomADv4_1_AF_grpmax_joint=0.0802234;gnomADv4_1_AF_joint=0.0646513;gnomADv4_1_AF_joint_XX=0.0670261;gnomADv4_1_AF_joint_XY=0.0621015;gnomADv4_1_AN_grpmax_joint=30440;gnomADv4_1_AN_joint=123586;gnomADv4_1_AN_joint_XX=63990;gnomADv4_1_AN_joint_XY=59596;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=274;gnomADv4_1_nhomalt_joint_XX=144;gnomADv4_1_nhomalt_joint_XY=130;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28312034 chr22_28312034_C_CA C CA 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=1.621;CADDIndel_Rawscore=0.10845;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-5392dup|||||||rs200319220||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28312048dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-5392dup|||||||rs200319220||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28312048dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-5392dup|||||||rs200319220||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28312048dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-5392dup|||||||rs200319220||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28312048dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-5392dup|||||||rs200319220||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28312048dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-5392dup|||||||rs200319220||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28312048dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-5392dup|||||||rs200319220||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28312048dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-5392dup|||||||rs200319220||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28312048dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-5392dup|||||||rs200319220||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28312048dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-5392dup|||||||rs200319220||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28312048dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-5392dup|||||||rs200319220||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28312048dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-5392dup|||||||rs200319220||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28312048dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-5392dup|||||||rs200319220||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28312048dup|||||||||||||;SpliceAI=CA|TTC28|0.00|0.00|0.00|0.00|3|-20|-6|-15;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14489;gnomADv4_1_AC_joint_XX=7451;gnomADv4_1_AC_joint_XY=7038;gnomADv4_1_AF_grpmax_joint=0.25;gnomADv4_1_AF_joint=0.1612;gnomADv4_1_AF_joint_XX=0.158613;gnomADv4_1_AF_joint_XY=0.164033;gnomADv4_1_AN_grpmax_joint=188;gnomADv4_1_AN_joint=89882;gnomADv4_1_AN_joint_XX=46976;gnomADv4_1_AN_joint_XY=42906;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=815;gnomADv4_1_nhomalt_joint_XX=404;gnomADv4_1_nhomalt_joint_XY=411;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28312979 chr22_28312979_A_G A G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.848;CADD_Rawscore=0.143051;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-6336T>C|||||||rs111553513||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28312979A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-6336T>C|||||||rs111553513||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28312979A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-6336T>C|||||||rs111553513||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28312979A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-6336T>C|||||||rs111553513||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28312979A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-6336T>C|||||||rs111553513||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28312979A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-6336T>C|||||||rs111553513||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28312979A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-6336T>C|||||||rs111553513||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28312979A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-6336T>C|||||||rs111553513||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28312979A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-6336T>C|||||||rs111553513||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28312979A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-6336T>C|||||||rs111553513||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28312979A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-6336T>C|||||||rs111553513||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28312979A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-6336T>C|||||||rs111553513||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28312979A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-6336T>C|||||||rs111553513||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28312979A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-27|-19|44|0;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16092;gnomADv4_1_AC_joint_XX=8179;gnomADv4_1_AC_joint_XY=7913;gnomADv4_1_AF_grpmax_joint=0.245326;gnomADv4_1_AF_joint=0.105711;gnomADv4_1_AF_joint_XX=0.105118;gnomADv4_1_AF_joint_XY=0.106332;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152226;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1054;gnomADv4_1_nhomalt_joint_XX=509;gnomADv4_1_nhomalt_joint_XY=545;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28313578 chr22_28313578_A_C A C 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=2.038;CADD_Rawscore=0.168914;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-6935T>G|||||||rs5997354||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28313578A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-6935T>G|||||||rs5997354||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28313578A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-6935T>G|||||||rs5997354||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28313578A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-6935T>G|||||||rs5997354||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28313578A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-6935T>G|||||||rs5997354||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28313578A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-6935T>G|||||||rs5997354||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28313578A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-6935T>G|||||||rs5997354||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28313578A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-6935T>G|||||||rs5997354||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28313578A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-6935T>G|||||||rs5997354||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28313578A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-6935T>G|||||||rs5997354||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28313578A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-6935T>G|||||||rs5997354||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28313578A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-6935T>G|||||||rs5997354||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28313578A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-6935T>G|||||||rs5997354||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28313578A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-31|-44|34|-31;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13539;gnomADv4_1_AC_joint_XX=6795;gnomADv4_1_AC_joint_XY=6744;gnomADv4_1_AF_grpmax_joint=0.166667;gnomADv4_1_AF_joint=0.0889109;gnomADv4_1_AF_joint_XX=0.0873348;gnomADv4_1_AF_joint_XY=0.0905575;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152276;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=724;gnomADv4_1_nhomalt_joint_XX=338;gnomADv4_1_nhomalt_joint_XY=386;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28318073 chr22_28318073_ATT_A;chr22_28318073_A_AT ATT A 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADDIndel_PHREDscore=0.243;CADDIndel_Rawscore=-0.376555;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-11432_382-11431del|||||||rs35011623||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||TT|TT||||chr22:g.28318090_28318091del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-11432_189-11431del|||||||rs35011623||-1||HGNC|HGNC:29179|5||||||||Ensembl||TT|TT||||chr22:g.28318090_28318091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-11432_382-11431del|||||||rs35011623||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||TT|TT||||chr22:g.28318090_28318091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-11432_382-11431del|||||||rs35011623||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||TT|TT||||chr22:g.28318090_28318091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-11432_28-11431del|||||||rs35011623||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||TT|TT||||chr22:g.28318090_28318091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-11432_28-11431del|||||||rs35011623||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||TT|TT||||chr22:g.28318090_28318091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-11432_304-11431del|||||||rs35011623||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||TT|TT||||chr22:g.28318090_28318091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-11432_382-11431del|||||||rs35011623||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||TT|TT||||chr22:g.28318090_28318091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-11432_382-11431del|||||||rs35011623||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||TT|TT||||chr22:g.28318090_28318091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-11432_382-11431del|||||||rs35011623||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||TT|TT||||chr22:g.28318090_28318091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-11432_292-11431del|||||||rs35011623||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||TT|TT||||chr22:g.28318090_28318091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-11432_304-11431del|||||||rs35011623||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||TT|TT||||chr22:g.28318090_28318091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-11432_76-11431del|||||||rs35011623||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||TT|TT||||chr22:g.28318090_28318091del|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-8|36|-11|36;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11287;gnomADv4_1_AC_joint_XX=5796;gnomADv4_1_AC_joint_XY=5491;gnomADv4_1_AF_grpmax_joint=0.189426;gnomADv4_1_AF_joint=0.0808027;gnomADv4_1_AF_joint_XX=0.0800486;gnomADv4_1_AF_joint_XY=0.0816141;gnomADv4_1_AN_grpmax_joint=4218;gnomADv4_1_AN_joint=139686;gnomADv4_1_AN_joint_XX=72406;gnomADv4_1_AN_joint_XY=67280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=558;gnomADv4_1_nhomalt_joint_XX=276;gnomADv4_1_nhomalt_joint_XY=282;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28318073 chr22_28318073_ATT_A;chr22_28318073_A_AT A AT 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADDIndel_PHREDscore=0.323;CADDIndel_Rawscore=-0.303312;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-11431dup|||||||rs35011623||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28318091dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-11431dup|||||||rs35011623||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28318091dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-11431dup|||||||rs35011623||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28318091dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-11431dup|||||||rs35011623||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28318091dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-11431dup|||||||rs35011623||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28318091dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-11431dup|||||||rs35011623||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28318091dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-11431dup|||||||rs35011623||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28318091dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-11431dup|||||||rs35011623||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28318091dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-11431dup|||||||rs35011623||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28318091dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-11431dup|||||||rs35011623||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28318091dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-11431dup|||||||rs35011623||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28318091dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-11431dup|||||||rs35011623||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28318091dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-11431dup|||||||rs35011623||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28318091dup|||||||||||||;SpliceAI=AT|TTC28|0.00|0.00|0.00|0.00|36|-8|32|36;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23617;gnomADv4_1_AC_joint_XX=12029;gnomADv4_1_AC_joint_XY=11588;gnomADv4_1_AF_grpmax_joint=0.296715;gnomADv4_1_AF_joint=0.168927;gnomADv4_1_AF_joint_XX=0.165995;gnomADv4_1_AF_joint_XY=0.172082;gnomADv4_1_AN_grpmax_joint=4688;gnomADv4_1_AN_joint=139806;gnomADv4_1_AN_joint_XX=72466;gnomADv4_1_AN_joint_XY=67340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2436;gnomADv4_1_nhomalt_joint_XX=1220;gnomADv4_1_nhomalt_joint_XY=1216;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28318812 chr22_28318812_CT_C CT C 24 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=24;CADDIndel_PHREDscore=0.513;CADDIndel_Rawscore=-0.186739;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-12170del|||||||rs71316836||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28318837del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-12170del|||||||rs71316836||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28318837del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-12170del|||||||rs71316836||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28318837del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-12170del|||||||rs71316836||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28318837del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-12170del|||||||rs71316836||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28318837del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-12170del|||||||rs71316836||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28318837del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-12170del|||||||rs71316836||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28318837del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-12170del|||||||rs71316836||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28318837del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-12170del|||||||rs71316836||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28318837del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-12170del|||||||rs71316836||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28318837del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-12170del|||||||rs71316836||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28318837del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-12170del|||||||rs71316836||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28318837del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-12170del|||||||rs71316836||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28318837del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|3|7|48|22;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28566;gnomADv4_1_AC_joint_XX=15981;gnomADv4_1_AC_joint_XY=12585;gnomADv4_1_AF_grpmax_joint=0.528143;gnomADv4_1_AF_joint=0.46399;gnomADv4_1_AF_joint_XX=0.463836;gnomADv4_1_AF_joint_XY=0.464186;gnomADv4_1_AN_grpmax_joint=3802;gnomADv4_1_AN_joint=61566;gnomADv4_1_AN_joint_XX=34454;gnomADv4_1_AN_joint_XY=27112;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1311;gnomADv4_1_nhomalt_joint_XX=617;gnomADv4_1_nhomalt_joint_XY=694;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28321328 chr22_28321328_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=16.22;CADD_Rawscore=1.88693;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-14685G>A|||||||rs17502181||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28321328C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-14685G>A|||||||rs17502181||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28321328C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-14685G>A|||||||rs17502181||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28321328C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-14685G>A|||||||rs17502181||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28321328C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-14685G>A|||||||rs17502181||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28321328C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-14685G>A|||||||rs17502181||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28321328C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-14685G>A|||||||rs17502181||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28321328C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-14685G>A|||||||rs17502181||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28321328C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-14685G>A|||||||rs17502181||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28321328C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-14685G>A|||||||rs17502181||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28321328C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-14685G>A|||||||rs17502181||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28321328C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-14685G>A|||||||rs17502181||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28321328C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-14685G>A|||||||rs17502181||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28321328C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-31|5|41|-45;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27832;gnomADv4_1_AC_joint_XX=14316;gnomADv4_1_AC_joint_XY=13516;gnomADv4_1_AF_grpmax_joint=0.25826;gnomADv4_1_AF_joint=0.182966;gnomADv4_1_AF_joint_XX=0.184067;gnomADv4_1_AF_joint_XY=0.181813;gnomADv4_1_AN_grpmax_joint=67982;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3277;gnomADv4_1_nhomalt_joint_XX=1684;gnomADv4_1_nhomalt_joint_XY=1593;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28321749 chr22_28321749_C_A C A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=7.125;CADD_Rawscore=0.671672;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-15106G>T|||||||rs111935081||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28321749C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-15106G>T|||||||rs111935081||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28321749C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-15106G>T|||||||rs111935081||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28321749C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-15106G>T|||||||rs111935081||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28321749C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-15106G>T|||||||rs111935081||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28321749C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-15106G>T|||||||rs111935081||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28321749C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-15106G>T|||||||rs111935081||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28321749C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-15106G>T|||||||rs111935081||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28321749C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-15106G>T|||||||rs111935081||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28321749C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-15106G>T|||||||rs111935081||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28321749C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-15106G>T|||||||rs111935081||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28321749C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-15106G>T|||||||rs111935081||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28321749C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-15106G>T|||||||rs111935081||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28321749C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-20|-15|-15|-19;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=590;gnomADv4_1_AC_joint_XX=331;gnomADv4_1_AC_joint_XY=259;gnomADv4_1_AF_grpmax_joint=0.0306122;gnomADv4_1_AF_joint=0.00387566;gnomADv4_1_AF_joint_XX=0.00425472;gnomADv4_1_AF_joint_XY=0.0034795;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152232;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28322119 chr22_28322119_C_T C T 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.129;CADD_Rawscore=-0.543893;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-15476G>A|||||||rs5752720||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28322119C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-15476G>A|||||||rs5752720||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28322119C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-15476G>A|||||||rs5752720||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28322119C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-15476G>A|||||||rs5752720||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28322119C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-15476G>A|||||||rs5752720||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28322119C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-15476G>A|||||||rs5752720||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28322119C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-15476G>A|||||||rs5752720||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28322119C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-15476G>A|||||||rs5752720||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28322119C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-15476G>A|||||||rs5752720||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28322119C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-15476G>A|||||||rs5752720||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28322119C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-15476G>A|||||||rs5752720||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28322119C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-15476G>A|||||||rs5752720||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28322119C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-15476G>A|||||||rs5752720||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28322119C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|4|10|0;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31685;gnomADv4_1_AC_joint_XX=15828;gnomADv4_1_AC_joint_XY=15857;gnomADv4_1_AF_grpmax_joint=0.476956;gnomADv4_1_AF_joint=0.208402;gnomADv4_1_AF_joint_XX=0.203644;gnomADv4_1_AF_joint_XY=0.213378;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152038;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4121;gnomADv4_1_nhomalt_joint_XX=1963;gnomADv4_1_nhomalt_joint_XY=2158;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28323668 chr22_28323668_G_A G A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.216;CADD_Rawscore=0.191211;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-17025C>T|||||||rs1297607||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28323668G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-17025C>T|||||||rs1297607||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28323668G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-17025C>T|||||||rs1297607||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28323668G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-17025C>T|||||||rs1297607||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28323668G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-17025C>T|||||||rs1297607||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28323668G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-17025C>T|||||||rs1297607||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28323668G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-17025C>T|||||||rs1297607||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28323668G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-17025C>T|||||||rs1297607||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28323668G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-17025C>T|||||||rs1297607||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28323668G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-17025C>T|||||||rs1297607||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28323668G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-17025C>T|||||||rs1297607||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28323668G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-17025C>T|||||||rs1297607||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28323668G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-17025C>T|||||||rs1297607||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28323668G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-9|-18|-8|-22;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=133246;gnomADv4_1_AC_joint_XX=68157;gnomADv4_1_AC_joint_XY=65089;gnomADv4_1_AF_grpmax_joint=0.989543;gnomADv4_1_AF_joint=0.87549;gnomADv4_1_AF_joint_XX=0.876212;gnomADv4_1_AF_joint_XY=0.874735;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152196;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=58470;gnomADv4_1_nhomalt_joint_XX=29951;gnomADv4_1_nhomalt_joint_XY=28519;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28324428 chr22_28324428_CA_C CA C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.506;CADDIndel_Rawscore=-0.190278;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-17786del|||||||rs134480||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28324440del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-17786del|||||||rs134480||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28324440del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-17786del|||||||rs134480||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28324440del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-17786del|||||||rs134480||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28324440del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-17786del|||||||rs134480||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28324440del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-17786del|||||||rs134480||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28324440del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-17786del|||||||rs134480||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28324440del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-17786del|||||||rs134480||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28324440del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-17786del|||||||rs134480||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28324440del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-17786del|||||||rs134480||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28324440del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-17786del|||||||rs134480||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28324440del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-17786del|||||||rs134480||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28324440del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-17786del|||||||rs134480||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28324440del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-14|-13|-18|-49;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=140391;gnomADv4_1_AC_joint_XX=72123;gnomADv4_1_AC_joint_XY=68268;gnomADv4_1_AF_grpmax_joint=0.98865;gnomADv4_1_AF_joint=0.957947;gnomADv4_1_AF_joint_XX=0.95786;gnomADv4_1_AF_joint_XY=0.95804;gnomADv4_1_AN_grpmax_joint=5022;gnomADv4_1_AN_joint=146554;gnomADv4_1_AN_joint_XX=75296;gnomADv4_1_AN_joint_XY=71258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67198;gnomADv4_1_nhomalt_joint_XX=34514;gnomADv4_1_nhomalt_joint_XY=32684;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28325064 chr22_28325064_C_T C T 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.63;CADD_Rawscore=-0.135252;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-18421G>A|||||||rs134481||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28325064C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-18421G>A|||||||rs134481||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28325064C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-18421G>A|||||||rs134481||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28325064C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-18421G>A|||||||rs134481||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28325064C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-18421G>A|||||||rs134481||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28325064C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-18421G>A|||||||rs134481||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28325064C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-18421G>A|||||||rs134481||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28325064C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-18421G>A|||||||rs134481||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28325064C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-18421G>A|||||||rs134481||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28325064C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-18421G>A|||||||rs134481||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28325064C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-18421G>A|||||||rs134481||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28325064C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-18421G>A|||||||rs134481||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28325064C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-18421G>A|||||||rs134481||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28325064C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|44|-29|-9;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129882;gnomADv4_1_AC_joint_XX=66476;gnomADv4_1_AC_joint_XY=63406;gnomADv4_1_AF_grpmax_joint=0.990614;gnomADv4_1_AF_joint=0.861069;gnomADv4_1_AF_joint_XX=0.861423;gnomADv4_1_AF_joint_XY=0.860699;gnomADv4_1_AN_grpmax_joint=5114;gnomADv4_1_AN_joint=150838;gnomADv4_1_AN_joint_XX=77170;gnomADv4_1_AN_joint_XY=73668;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56199;gnomADv4_1_nhomalt_joint_XX=28794;gnomADv4_1_nhomalt_joint_XY=27405;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28325069 chr22_28325069_A_AC A AC 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.87;CADDIndel_Rawscore=-0.053686;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-18427dup|||||||rs60131262||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28325070dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-18427dup|||||||rs60131262||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28325070dup|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-18427dup|||||||rs60131262||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28325070dup|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-18427dup|||||||rs60131262||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28325070dup|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-18427dup|||||||rs60131262||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28325070dup|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-18427dup|||||||rs60131262||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28325070dup|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-18427dup|||||||rs60131262||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28325070dup|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-18427dup|||||||rs60131262||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28325070dup|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-18427dup|||||||rs60131262||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28325070dup|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-18427dup|||||||rs60131262||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28325070dup|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-18427dup|||||||rs60131262||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28325070dup|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-18427dup|||||||rs60131262||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28325070dup|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-18427dup|||||||rs60131262||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28325070dup|||||||||||||;SpliceAI=AC|TTC28|0.00|0.00|0.00|0.00|2|39|1|-14;TYPE=INDEL;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129709;gnomADv4_1_AC_joint_XX=66420;gnomADv4_1_AC_joint_XY=63289;gnomADv4_1_AF_grpmax_joint=0.990388;gnomADv4_1_AF_joint=0.860961;gnomADv4_1_AF_joint_XX=0.861278;gnomADv4_1_AF_joint_XY=0.86063;gnomADv4_1_AN_grpmax_joint=5098;gnomADv4_1_AN_joint=150656;gnomADv4_1_AN_joint_XX=77118;gnomADv4_1_AN_joint_XY=73538;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56122;gnomADv4_1_nhomalt_joint_XX=28766;gnomADv4_1_nhomalt_joint_XY=27356;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28325071 chr22_28325071_T_A T A 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=2.88;CADD_Rawscore=0.262886;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-18428A>T|||||||rs134482||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28325071T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-18428A>T|||||||rs134482||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28325071T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-18428A>T|||||||rs134482||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28325071T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-18428A>T|||||||rs134482||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28325071T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-18428A>T|||||||rs134482||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28325071T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-18428A>T|||||||rs134482||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28325071T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-18428A>T|||||||rs134482||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28325071T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-18428A>T|||||||rs134482||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28325071T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-18428A>T|||||||rs134482||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28325071T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-18428A>T|||||||rs134482||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28325071T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-18428A>T|||||||rs134482||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28325071T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-18428A>T|||||||rs134482||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28325071T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-18428A>T|||||||rs134482||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28325071T>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-8|37|-10|-16;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129619;gnomADv4_1_AC_joint_XX=66387;gnomADv4_1_AC_joint_XY=63232;gnomADv4_1_AF_grpmax_joint=0.990396;gnomADv4_1_AF_joint=0.860913;gnomADv4_1_AF_joint_XX=0.861229;gnomADv4_1_AF_joint_XY=0.86058;gnomADv4_1_AN_grpmax_joint=5102;gnomADv4_1_AN_joint=150560;gnomADv4_1_AN_joint_XX=77084;gnomADv4_1_AN_joint_XY=73476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56081;gnomADv4_1_nhomalt_joint_XX=28750;gnomADv4_1_nhomalt_joint_XY=27331;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28325077 chr22_28325077_T_A T A 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.508;CADD_Rawscore=-0.189358;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-18434A>T|||||||rs134483||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28325077T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-18434A>T|||||||rs134483||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28325077T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-18434A>T|||||||rs134483||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28325077T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-18434A>T|||||||rs134483||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28325077T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-18434A>T|||||||rs134483||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28325077T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-18434A>T|||||||rs134483||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28325077T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-18434A>T|||||||rs134483||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28325077T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-18434A>T|||||||rs134483||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28325077T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-18434A>T|||||||rs134483||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28325077T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-18434A>T|||||||rs134483||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28325077T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-18434A>T|||||||rs134483||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28325077T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-18434A>T|||||||rs134483||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28325077T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-18434A>T|||||||rs134483||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28325077T>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-6|31|-6|-22;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129567;gnomADv4_1_AC_joint_XX=66365;gnomADv4_1_AC_joint_XY=63202;gnomADv4_1_AF_grpmax_joint=0.990415;gnomADv4_1_AF_joint=0.86091;gnomADv4_1_AF_joint_XX=0.861234;gnomADv4_1_AF_joint_XY=0.86057;gnomADv4_1_AN_grpmax_joint=5112;gnomADv4_1_AN_joint=150500;gnomADv4_1_AN_joint_XX=77058;gnomADv4_1_AN_joint_XY=73442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56057;gnomADv4_1_nhomalt_joint_XX=28740;gnomADv4_1_nhomalt_joint_XY=27317;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28325095 chr22_28325095_C_T C T 47 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=3.709;CADD_Rawscore=0.339385;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-18452G>A|||||||rs134484||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28325095C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-18452G>A|||||||rs134484||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28325095C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-18452G>A|||||||rs134484||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28325095C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-18452G>A|||||||rs134484||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28325095C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-18452G>A|||||||rs134484||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28325095C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-18452G>A|||||||rs134484||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28325095C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-18452G>A|||||||rs134484||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28325095C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-18452G>A|||||||rs134484||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28325095C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-18452G>A|||||||rs134484||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28325095C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-18452G>A|||||||rs134484||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28325095C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-18452G>A|||||||rs134484||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28325095C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-18452G>A|||||||rs134484||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28325095C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-18452G>A|||||||rs134484||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28325095C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|13|46|-40;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129709;gnomADv4_1_AC_joint_XX=66501;gnomADv4_1_AC_joint_XY=63208;gnomADv4_1_AF_grpmax_joint=0.990599;gnomADv4_1_AF_joint=0.860904;gnomADv4_1_AF_joint_XX=0.861189;gnomADv4_1_AF_joint_XY=0.860605;gnomADv4_1_AN_grpmax_joint=5106;gnomADv4_1_AN_joint=150666;gnomADv4_1_AN_joint_XX=77220;gnomADv4_1_AN_joint_XY=73446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56124;gnomADv4_1_nhomalt_joint_XX=28806;gnomADv4_1_nhomalt_joint_XY=27318;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28326547 chr22_28326547_T_C T C 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.393;CADD_Rawscore=0.068664;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-19904A>G|||||||rs1303845||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28326547T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-19904A>G|||||||rs1303845||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28326547T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-19904A>G|||||||rs1303845||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28326547T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-19904A>G|||||||rs1303845||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28326547T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-19904A>G|||||||rs1303845||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28326547T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-19904A>G|||||||rs1303845||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28326547T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-19904A>G|||||||rs1303845||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28326547T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-19904A>G|||||||rs1303845||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28326547T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-19904A>G|||||||rs1303845||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28326547T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-19904A>G|||||||rs1303845||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28326547T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-19904A>G|||||||rs1303845||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28326547T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-19904A>G|||||||rs1303845||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28326547T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-19904A>G|||||||rs1303845||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28326547T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|11|24|-23|-4;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29163;gnomADv4_1_AC_joint_XX=14913;gnomADv4_1_AC_joint_XY=14250;gnomADv4_1_AF_grpmax_joint=0.248314;gnomADv4_1_AF_joint=0.191705;gnomADv4_1_AF_joint_XX=0.191817;gnomADv4_1_AF_joint_XY=0.191589;gnomADv4_1_AN_grpmax_joint=67910;gnomADv4_1_AN_joint=152124;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3321;gnomADv4_1_nhomalt_joint_XX=1735;gnomADv4_1_nhomalt_joint_XY=1586;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28326975 chr22_28326975_AACAC_A;chr22_28326975_AACACACAC_A;chr22_28326975_A_AAC AACAC A 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.626;CADDIndel_Rawscore=-0.137149;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-20336_382-20333del|||||||rs57349023||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||ACAC|ACAC||||chr22:g.28327013_28327016del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-20336_189-20333del|||||||rs57349023||-1||HGNC|HGNC:29179|5||||||||Ensembl||ACAC|ACAC||||chr22:g.28327013_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-20336_382-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||ACAC|ACAC||||chr22:g.28327013_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-20336_382-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||ACAC|ACAC||||chr22:g.28327013_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-20336_28-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||ACAC|ACAC||||chr22:g.28327013_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-20336_28-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||ACAC|ACAC||||chr22:g.28327013_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-20336_304-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||ACAC|ACAC||||chr22:g.28327013_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-20336_382-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||ACAC|ACAC||||chr22:g.28327013_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-20336_382-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||ACAC|ACAC||||chr22:g.28327013_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-20336_382-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||ACAC|ACAC||||chr22:g.28327013_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-20336_292-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||ACAC|ACAC||||chr22:g.28327013_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-20336_304-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||ACAC|ACAC||||chr22:g.28327013_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-20336_76-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||ACAC|ACAC||||chr22:g.28327013_28327016del|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|48|-37|-9|-35;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24913;gnomADv4_1_AC_joint_XX=12752;gnomADv4_1_AC_joint_XY=12161;gnomADv4_1_AF_grpmax_joint=0.328762;gnomADv4_1_AF_joint=0.17461;gnomADv4_1_AF_joint_XX=0.173733;gnomADv4_1_AF_joint_XY=0.175539;gnomADv4_1_AN_grpmax_joint=4958;gnomADv4_1_AN_joint=142678;gnomADv4_1_AN_joint_XX=73400;gnomADv4_1_AN_joint_XY=69278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2169;gnomADv4_1_nhomalt_joint_XX=1070;gnomADv4_1_nhomalt_joint_XY=1099;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28326975 chr22_28326975_AACAC_A;chr22_28326975_AACACACAC_A;chr22_28326975_A_AAC AACACACAC A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=1.073;CADDIndel_Rawscore=0.000435;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-20340_382-20333del|||||||rs57349023||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||ACACACAC|ACACACAC||||chr22:g.28327009_28327016del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-20340_189-20333del|||||||rs57349023||-1||HGNC|HGNC:29179|5||||||||Ensembl||ACACACAC|ACACACAC||||chr22:g.28327009_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-20340_382-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.28327009_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-20340_382-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.28327009_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-20340_28-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.28327009_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-20340_28-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.28327009_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-20340_304-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.28327009_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-20340_382-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.28327009_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-20340_382-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.28327009_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-20340_382-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.28327009_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-20340_292-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.28327009_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-20340_304-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.28327009_28327016del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-20340_76-20333del|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.28327009_28327016del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22810;gnomADv4_1_AC_joint_XX=11783;gnomADv4_1_AC_joint_XY=11027;gnomADv4_1_AF_grpmax_joint=0.213686;gnomADv4_1_AF_joint=0.159671;gnomADv4_1_AF_joint_XX=0.16037;gnomADv4_1_AF_joint_XY=0.158932;gnomADv4_1_AN_grpmax_joint=65746;gnomADv4_1_AN_joint=142856;gnomADv4_1_AN_joint_XX=73474;gnomADv4_1_AN_joint_XY=69382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2098;gnomADv4_1_nhomalt_joint_XX=1084;gnomADv4_1_nhomalt_joint_XY=1014;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28326975 chr22_28326975_AACAC_A;chr22_28326975_AACACACAC_A;chr22_28326975_A_AAC A AAC 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.476;CADDIndel_Rawscore=-0.205521;CSQ=AC|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-20334_382-20333dup|||||||rs57349023||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28327015_28327016dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-20334_189-20333dup|||||||rs57349023||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28327015_28327016dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-20334_382-20333dup|||||||rs57349023||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28327015_28327016dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-20334_382-20333dup|||||||rs57349023||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28327015_28327016dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-20334_28-20333dup|||||||rs57349023||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28327015_28327016dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-20334_28-20333dup|||||||rs57349023||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28327015_28327016dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-20334_304-20333dup|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28327015_28327016dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-20334_382-20333dup|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28327015_28327016dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-20334_382-20333dup|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28327015_28327016dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-20334_382-20333dup|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28327015_28327016dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-20334_292-20333dup|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28327015_28327016dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-20334_304-20333dup|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28327015_28327016dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-20334_76-20333dup|||||||rs57349023||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28327015_28327016dup|||||||||||||;TYPE=INDEL;VEP_Allele=AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9873;gnomADv4_1_AC_joint_XX=5251;gnomADv4_1_AC_joint_XY=4622;gnomADv4_1_AF_grpmax_joint=0.169408;gnomADv4_1_AF_joint=0.069128;gnomADv4_1_AF_joint_XX=0.0714908;gnomADv4_1_AF_joint_XY=0.0666263;gnomADv4_1_AN_grpmax_joint=37324;gnomADv4_1_AN_joint=142822;gnomADv4_1_AN_joint_XX=73450;gnomADv4_1_AN_joint_XY=69372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=509;gnomADv4_1_nhomalt_joint_XX=271;gnomADv4_1_nhomalt_joint_XY=238;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28327913 chr22_28327913_C_T C T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=4.514;CADD_Rawscore=0.411194;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-21270G>A|||||||rs143420798||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28327913C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-21270G>A|||||||rs143420798||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28327913C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-21270G>A|||||||rs143420798||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28327913C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-21270G>A|||||||rs143420798||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28327913C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-21270G>A|||||||rs143420798||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28327913C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-21270G>A|||||||rs143420798||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28327913C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-21270G>A|||||||rs143420798||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28327913C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-21270G>A|||||||rs143420798||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28327913C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-21270G>A|||||||rs143420798||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28327913C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-21270G>A|||||||rs143420798||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28327913C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-21270G>A|||||||rs143420798||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28327913C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-21270G>A|||||||rs143420798||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28327913C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-21270G>A|||||||rs143420798||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28327913C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-5|17|-1|-38;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1070;gnomADv4_1_AC_joint_XX=572;gnomADv4_1_AC_joint_XY=498;gnomADv4_1_AF_grpmax_joint=0.0107021;gnomADv4_1_AF_joint=0.00702552;gnomADv4_1_AF_joint_XX=0.00734897;gnomADv4_1_AF_joint_XY=0.00668744;gnomADv4_1_AN_grpmax_joint=68024;gnomADv4_1_AN_joint=152302;gnomADv4_1_AN_joint_XX=77834;gnomADv4_1_AN_joint_XY=74468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9;gnomADv4_1_nhomalt_joint_XX=5;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28328443 chr22_28328443_T_TA T TA 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=1.153;CADDIndel_Rawscore=0.019164;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-21801dup|||||||rs978447948||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28328450dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-21801dup|||||||rs978447948||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28328450dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-21801dup|||||||rs978447948||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28328450dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-21801dup|||||||rs978447948||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28328450dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-21801dup|||||||rs978447948||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28328450dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-21801dup|||||||rs978447948||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28328450dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-21801dup|||||||rs978447948||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28328450dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-21801dup|||||||rs978447948||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28328450dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-21801dup|||||||rs978447948||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28328450dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-21801dup|||||||rs978447948||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28328450dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-21801dup|||||||rs978447948||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28328450dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-21801dup|||||||rs978447948||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28328450dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-21801dup|||||||rs978447948||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28328450dup|||||||||||||;SpliceAI=TA|TTC28|0.00|0.00|0.00|0.00|-10|-4|-4|49;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34;gnomADv4_1_AC_joint_XX=19;gnomADv4_1_AC_joint_XY=15;gnomADv4_1_AF_grpmax_joint=0.00342466;gnomADv4_1_AF_joint=0.000224482;gnomADv4_1_AF_joint_XX=0.000245288;gnomADv4_1_AF_joint_XY=0.000202703;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151460;gnomADv4_1_AN_joint_XX=77460;gnomADv4_1_AN_joint_XY=74000;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28328740 chr22_28328740_C_A C A 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.642;CADD_Rawscore=-0.130717;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-22097G>T|||||||rs134485||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28328740C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-22097G>T|||||||rs134485||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28328740C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-22097G>T|||||||rs134485||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28328740C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-22097G>T|||||||rs134485||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28328740C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-22097G>T|||||||rs134485||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28328740C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-22097G>T|||||||rs134485||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28328740C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-22097G>T|||||||rs134485||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28328740C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-22097G>T|||||||rs134485||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28328740C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-22097G>T|||||||rs134485||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28328740C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-22097G>T|||||||rs134485||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28328740C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-22097G>T|||||||rs134485||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28328740C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-22097G>T|||||||rs134485||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28328740C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-22097G>T|||||||rs134485||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28328740C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-14|6|-14|6;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=144997;gnomADv4_1_AC_joint_XX=74315;gnomADv4_1_AC_joint_XY=70682;gnomADv4_1_AF_grpmax_joint=0.994894;gnomADv4_1_AF_joint=0.97782;gnomADv4_1_AF_joint_XX=0.977597;gnomADv4_1_AF_joint_XY=0.978054;gnomADv4_1_AN_grpmax_joint=5092;gnomADv4_1_AN_joint=148286;gnomADv4_1_AN_joint_XX=76018;gnomADv4_1_AN_joint_XY=72268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70884;gnomADv4_1_nhomalt_joint_XX=36319;gnomADv4_1_nhomalt_joint_XY=34565;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28328756 chr22_28328756_AAATAAT_A;chr22_28328756_AAATAATAAT_A AAATAAT A 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.636;CADDIndel_Rawscore=-0.132833;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-22119_382-22114del|||||||rs199948599||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||AATAAT|AATAAT||||chr22:g.28328800_28328805del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-22119_189-22114del|||||||rs199948599||-1||HGNC|HGNC:29179|5||||||||Ensembl||AATAAT|AATAAT||||chr22:g.28328800_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-22119_382-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||AATAAT|AATAAT||||chr22:g.28328800_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-22119_382-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||AATAAT|AATAAT||||chr22:g.28328800_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-22119_28-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||AATAAT|AATAAT||||chr22:g.28328800_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-22119_28-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||AATAAT|AATAAT||||chr22:g.28328800_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-22119_304-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||AATAAT|AATAAT||||chr22:g.28328800_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-22119_382-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||AATAAT|AATAAT||||chr22:g.28328800_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-22119_382-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||AATAAT|AATAAT||||chr22:g.28328800_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-22119_382-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||AATAAT|AATAAT||||chr22:g.28328800_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-22119_292-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||AATAAT|AATAAT||||chr22:g.28328800_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-22119_304-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||AATAAT|AATAAT||||chr22:g.28328800_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-22119_76-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||AATAAT|AATAAT||||chr22:g.28328800_28328805del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56872;gnomADv4_1_AC_joint_XX=29810;gnomADv4_1_AC_joint_XY=27062;gnomADv4_1_AF_grpmax_joint=0.540666;gnomADv4_1_AF_joint=0.424595;gnomADv4_1_AF_joint_XX=0.428022;gnomADv4_1_AF_joint_XY=0.420884;gnomADv4_1_AN_grpmax_joint=62804;gnomADv4_1_AN_joint=133944;gnomADv4_1_AN_joint_XX=69646;gnomADv4_1_AN_joint_XY=64298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13208;gnomADv4_1_nhomalt_joint_XX=6999;gnomADv4_1_nhomalt_joint_XY=6209;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28328756 chr22_28328756_AAATAAT_A;chr22_28328756_AAATAATAAT_A AAATAATAAT A 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.596;CADDIndel_Rawscore=-0.149396;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-22122_382-22114del|||||||rs199948599||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||AATAATAAT|AATAATAAT||||chr22:g.28328797_28328805del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-22122_189-22114del|||||||rs199948599||-1||HGNC|HGNC:29179|5||||||||Ensembl||AATAATAAT|AATAATAAT||||chr22:g.28328797_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-22122_382-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||AATAATAAT|AATAATAAT||||chr22:g.28328797_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-22122_382-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||AATAATAAT|AATAATAAT||||chr22:g.28328797_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-22122_28-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||AATAATAAT|AATAATAAT||||chr22:g.28328797_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-22122_28-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||AATAATAAT|AATAATAAT||||chr22:g.28328797_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-22122_304-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||AATAATAAT|AATAATAAT||||chr22:g.28328797_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-22122_382-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||AATAATAAT|AATAATAAT||||chr22:g.28328797_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-22122_382-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||AATAATAAT|AATAATAAT||||chr22:g.28328797_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-22122_382-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||AATAATAAT|AATAATAAT||||chr22:g.28328797_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-22122_292-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||AATAATAAT|AATAATAAT||||chr22:g.28328797_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-22122_304-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||AATAATAAT|AATAATAAT||||chr22:g.28328797_28328805del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-22122_76-22114del|||||||rs199948599||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||AATAATAAT|AATAATAAT||||chr22:g.28328797_28328805del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21628;gnomADv4_1_AC_joint_XX=11246;gnomADv4_1_AC_joint_XY=10382;gnomADv4_1_AF_grpmax_joint=0.283142;gnomADv4_1_AF_joint=0.16123;gnomADv4_1_AF_joint_XX=0.161344;gnomADv4_1_AF_joint_XY=0.161106;gnomADv4_1_AN_grpmax_joint=36208;gnomADv4_1_AN_joint=134144;gnomADv4_1_AN_joint_XX=69702;gnomADv4_1_AN_joint_XY=64442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2220;gnomADv4_1_nhomalt_joint_XX=1152;gnomADv4_1_nhomalt_joint_XY=1068;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28329676 chr22_28329676_C_T C T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=10.02;CADD_Rawscore=0.972563;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-23033G>A|||||||rs79111||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28329676C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-23033G>A|||||||rs79111||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28329676C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-23033G>A|||||||rs79111||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28329676C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-23033G>A|||||||rs79111||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28329676C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-23033G>A|||||||rs79111||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28329676C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-23033G>A|||||||rs79111||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28329676C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-23033G>A|||||||rs79111||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28329676C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-23033G>A|||||||rs79111||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28329676C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-23033G>A|||||||rs79111||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28329676C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-23033G>A|||||||rs79111||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28329676C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-23033G>A|||||||rs79111||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28329676C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-23033G>A|||||||rs79111||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28329676C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-23033G>A|||||||rs79111||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28329676C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9F8LB|enhancer||||||||||rs79111|||||||||||||||||||||chr22:g.28329676C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-3|-1|42|47;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,ENSR22_9F8LB;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=148987;gnomADv4_1_AC_joint_XX=76126;gnomADv4_1_AC_joint_XY=72861;gnomADv4_1_AF_grpmax_joint=0.994211;gnomADv4_1_AF_joint=0.978414;gnomADv4_1_AF_joint_XX=0.978182;gnomADv4_1_AF_joint_XY=0.978657;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152274;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72882;gnomADv4_1_nhomalt_joint_XX=37228;gnomADv4_1_nhomalt_joint_XY=35654;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28332356 chr22_28332356_G_A G A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.065;CADD_Rawscore=0.280678;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-25713C>T|||||||rs134488||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28332356G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-25713C>T|||||||rs134488||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28332356G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-25713C>T|||||||rs134488||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28332356G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-25713C>T|||||||rs134488||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28332356G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-25713C>T|||||||rs134488||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28332356G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-25713C>T|||||||rs134488||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28332356G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-25713C>T|||||||rs134488||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28332356G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-25713C>T|||||||rs134488||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28332356G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-25713C>T|||||||rs134488||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28332356G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-25713C>T|||||||rs134488||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28332356G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-25713C>T|||||||rs134488||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28332356G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-25713C>T|||||||rs134488||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28332356G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-25713C>T|||||||rs134488||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28332356G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-50|-45|43|-11;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=133362;gnomADv4_1_AC_joint_XX=68226;gnomADv4_1_AC_joint_XY=65136;gnomADv4_1_AF_grpmax_joint=0.990526;gnomADv4_1_AF_joint=0.87767;gnomADv4_1_AF_joint_XX=0.878318;gnomADv4_1_AF_joint_XY=0.876993;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=151950;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=58669;gnomADv4_1_nhomalt_joint_XX=30041;gnomADv4_1_nhomalt_joint_XY=28628;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28333779 chr22_28333779_A_T A T 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=2.39;CADD_Rawscore=0.211501;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-27136T>A|||||||rs134489||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28333779A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-27136T>A|||||||rs134489||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28333779A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-27136T>A|||||||rs134489||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28333779A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-27136T>A|||||||rs134489||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28333779A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-27136T>A|||||||rs134489||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28333779A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-27136T>A|||||||rs134489||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28333779A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-27136T>A|||||||rs134489||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28333779A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-27136T>A|||||||rs134489||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28333779A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-27136T>A|||||||rs134489||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28333779A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-27136T>A|||||||rs134489||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28333779A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-27136T>A|||||||rs134489||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28333779A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-27136T>A|||||||rs134489||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28333779A>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-27136T>A|||||||rs134489||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28333779A>T|||1||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|40|41|-30;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37876;gnomADv4_1_AC_joint_XX=19566;gnomADv4_1_AC_joint_XY=18310;gnomADv4_1_AF_grpmax_joint=0.286421;gnomADv4_1_AF_joint=0.249191;gnomADv4_1_AF_joint_XX=0.251795;gnomADv4_1_AF_joint_XY=0.246467;gnomADv4_1_AN_grpmax_joint=41460;gnomADv4_1_AN_joint=151996;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4926;gnomADv4_1_nhomalt_joint_XX=2587;gnomADv4_1_nhomalt_joint_XY=2339;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28334187 chr22_28334187_C_T C T 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.09;CADD_Rawscore=0.004595;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-27544G>A|||||||rs134490||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28334187C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-27544G>A|||||||rs134490||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28334187C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-27544G>A|||||||rs134490||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28334187C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-27544G>A|||||||rs134490||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28334187C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-27544G>A|||||||rs134490||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28334187C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-27544G>A|||||||rs134490||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28334187C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-27544G>A|||||||rs134490||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28334187C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-27544G>A|||||||rs134490||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28334187C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-27544G>A|||||||rs134490||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28334187C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-27544G>A|||||||rs134490||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28334187C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-27544G>A|||||||rs134490||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28334187C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-27544G>A|||||||rs134490||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28334187C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-27544G>A|||||||rs134490||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28334187C>T|||1||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-24|-1|-19|0;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129376;gnomADv4_1_AC_joint_XX=66263;gnomADv4_1_AC_joint_XY=63113;gnomADv4_1_AF_grpmax_joint=0.990023;gnomADv4_1_AF_joint=0.860007;gnomADv4_1_AF_joint_XX=0.860201;gnomADv4_1_AF_joint_XY=0.859803;gnomADv4_1_AN_grpmax_joint=5112;gnomADv4_1_AN_joint=150436;gnomADv4_1_AN_joint_XX=77032;gnomADv4_1_AN_joint_XY=73404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=55858;gnomADv4_1_nhomalt_joint_XX=28632;gnomADv4_1_nhomalt_joint_XY=27226;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28334198 chr22_28334198_T_A T A 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=7.273;CADD_Rawscore=0.68788;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-27555A>T|||||||rs549208835||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28334198T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-27555A>T|||||||rs549208835||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28334198T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-27555A>T|||||||rs549208835||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28334198T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-27555A>T|||||||rs549208835||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28334198T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-27555A>T|||||||rs549208835||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28334198T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-27555A>T|||||||rs549208835||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28334198T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-27555A>T|||||||rs549208835||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28334198T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-27555A>T|||||||rs549208835||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28334198T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-27555A>T|||||||rs549208835||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28334198T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-27555A>T|||||||rs549208835||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28334198T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-27555A>T|||||||rs549208835||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28334198T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-27555A>T|||||||rs549208835||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28334198T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-27555A>T|||||||rs549208835||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28334198T>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-35|-2|-12|-2;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=589;gnomADv4_1_AC_joint_XX=332;gnomADv4_1_AC_joint_XY=257;gnomADv4_1_AF_grpmax_joint=0.0306122;gnomADv4_1_AF_joint=0.00387087;gnomADv4_1_AF_joint_XX=0.00426867;gnomADv4_1_AF_joint_XY=0.00345495;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28334457 chr22_28334457_C_T C T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=3.93;CADD_Rawscore=0.359008;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-27814G>A|||||||rs80307054||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28334457C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-27814G>A|||||||rs80307054||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28334457C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-27814G>A|||||||rs80307054||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28334457C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-27814G>A|||||||rs80307054||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28334457C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-27814G>A|||||||rs80307054||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28334457C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-27814G>A|||||||rs80307054||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28334457C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-27814G>A|||||||rs80307054||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28334457C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-27814G>A|||||||rs80307054||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28334457C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-27814G>A|||||||rs80307054||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28334457C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-27814G>A|||||||rs80307054||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28334457C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-27814G>A|||||||rs80307054||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28334457C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-27814G>A|||||||rs80307054||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28334457C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-27814G>A|||||||rs80307054||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28334457C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-9|-46|9|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14274;gnomADv4_1_AC_joint_XX=7162;gnomADv4_1_AC_joint_XY=7112;gnomADv4_1_AF_grpmax_joint=0.235782;gnomADv4_1_AF_joint=0.0937734;gnomADv4_1_AF_joint_XX=0.0920589;gnomADv4_1_AF_joint_XY=0.0955657;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152218;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=854;gnomADv4_1_nhomalt_joint_XX=402;gnomADv4_1_nhomalt_joint_XY=452;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28334876 chr22_28334876_A_G A G 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=6.758;CADD_Rawscore=0.632037;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-28233T>C|||||||rs9613592||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28334876A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-28233T>C|||||||rs9613592||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28334876A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-28233T>C|||||||rs9613592||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28334876A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-28233T>C|||||||rs9613592||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28334876A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-28233T>C|||||||rs9613592||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28334876A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-28233T>C|||||||rs9613592||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28334876A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-28233T>C|||||||rs9613592||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28334876A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-28233T>C|||||||rs9613592||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28334876A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-28233T>C|||||||rs9613592||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28334876A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-28233T>C|||||||rs9613592||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28334876A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-28233T>C|||||||rs9613592||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28334876A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-28233T>C|||||||rs9613592||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28334876A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-28233T>C|||||||rs9613592||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28334876A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-29|-48|27|-6;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35678;gnomADv4_1_AC_joint_XX=17906;gnomADv4_1_AC_joint_XY=17772;gnomADv4_1_AF_grpmax_joint=0.432253;gnomADv4_1_AF_joint=0.234609;gnomADv4_1_AF_joint_XX=0.230326;gnomADv4_1_AF_joint_XY=0.239089;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5081;gnomADv4_1_nhomalt_joint_XX=2473;gnomADv4_1_nhomalt_joint_XY=2608;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28334888 chr22_28334888_G_C G C 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=7.622;CADD_Rawscore=0.726553;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-28245C>G|||||||rs134491||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28334888G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-28245C>G|||||||rs134491||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28334888G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-28245C>G|||||||rs134491||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28334888G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-28245C>G|||||||rs134491||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28334888G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-28245C>G|||||||rs134491||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28334888G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-28245C>G|||||||rs134491||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28334888G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-28245C>G|||||||rs134491||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28334888G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-28245C>G|||||||rs134491||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28334888G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-28245C>G|||||||rs134491||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28334888G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-28245C>G|||||||rs134491||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28334888G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-28245C>G|||||||rs134491||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28334888G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-28245C>G|||||||rs134491||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28334888G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-28245C>G|||||||rs134491||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28334888G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|9|-41|5|-18;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40663;gnomADv4_1_AC_joint_XX=20812;gnomADv4_1_AC_joint_XY=19851;gnomADv4_1_AF_grpmax_joint=0.389061;gnomADv4_1_AF_joint=0.267463;gnomADv4_1_AF_joint_XX=0.267768;gnomADv4_1_AF_joint_XY=0.267145;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5692;gnomADv4_1_nhomalt_joint_XX=2931;gnomADv4_1_nhomalt_joint_XY=2761;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28336010 chr22_28336010_G_C G C 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.555;CADD_Rawscore=-0.166855;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-29367C>G|||||||rs134492||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28336010G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-29367C>G|||||||rs134492||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28336010G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-29367C>G|||||||rs134492||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28336010G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-29367C>G|||||||rs134492||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28336010G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-29367C>G|||||||rs134492||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28336010G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-29367C>G|||||||rs134492||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28336010G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-29367C>G|||||||rs134492||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28336010G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-29367C>G|||||||rs134492||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28336010G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-29367C>G|||||||rs134492||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28336010G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-29367C>G|||||||rs134492||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28336010G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-29367C>G|||||||rs134492||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28336010G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-29367C>G|||||||rs134492||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28336010G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-29367C>G|||||||rs134492||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28336010G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|13|10|11|2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=131100;gnomADv4_1_AC_joint_XX=66991;gnomADv4_1_AC_joint_XY=64109;gnomADv4_1_AF_grpmax_joint=0.990551;gnomADv4_1_AF_joint=0.861808;gnomADv4_1_AF_joint_XX=0.861864;gnomADv4_1_AF_joint_XY=0.86175;gnomADv4_1_AN_grpmax_joint=5186;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56757;gnomADv4_1_nhomalt_joint_XX=29015;gnomADv4_1_nhomalt_joint_XY=27742;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28336570 chr22_28336570_G_C G C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.275;CADD_Rawscore=-0.34456;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-29927C>G|||||||rs134493||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28336570G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-29927C>G|||||||rs134493||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28336570G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-29927C>G|||||||rs134493||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28336570G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-29927C>G|||||||rs134493||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28336570G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-29927C>G|||||||rs134493||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28336570G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-29927C>G|||||||rs134493||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28336570G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-29927C>G|||||||rs134493||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28336570G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-29927C>G|||||||rs134493||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28336570G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-29927C>G|||||||rs134493||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28336570G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-29927C>G|||||||rs134493||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28336570G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-29927C>G|||||||rs134493||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28336570G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-29927C>G|||||||rs134493||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28336570G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-29927C>G|||||||rs134493||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28336570G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|2|-9|46|-9;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=148823;gnomADv4_1_AC_joint_XX=76044;gnomADv4_1_AC_joint_XY=72779;gnomADv4_1_AF_grpmax_joint=0.993622;gnomADv4_1_AF_joint=0.978172;gnomADv4_1_AF_joint_XX=0.977907;gnomADv4_1_AF_joint_XY=0.978449;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72786;gnomADv4_1_nhomalt_joint_XX=37178;gnomADv4_1_nhomalt_joint_XY=35608;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28336935 chr22_28336935_C_G C G 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.478;CADD_Rawscore=-0.204503;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-30292G>C|||||||rs134494||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28336935C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-30292G>C|||||||rs134494||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28336935C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-30292G>C|||||||rs134494||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28336935C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-30292G>C|||||||rs134494||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28336935C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-30292G>C|||||||rs134494||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28336935C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-30292G>C|||||||rs134494||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28336935C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-30292G>C|||||||rs134494||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28336935C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-30292G>C|||||||rs134494||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28336935C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-30292G>C|||||||rs134494||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28336935C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-30292G>C|||||||rs134494||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28336935C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-30292G>C|||||||rs134494||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28336935C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-30292G>C|||||||rs134494||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28336935C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-30292G>C|||||||rs134494||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28336935C>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-21|-1|6|-1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34268;gnomADv4_1_AC_joint_XX=17638;gnomADv4_1_AC_joint_XY=16630;gnomADv4_1_AF_grpmax_joint=0.244601;gnomADv4_1_AF_joint=0.225694;gnomADv4_1_AF_joint_XX=0.22713;gnomADv4_1_AF_joint_XY=0.22419;gnomADv4_1_AN_grpmax_joint=67882;gnomADv4_1_AN_joint=151834;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74178;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4050;gnomADv4_1_nhomalt_joint_XX=2105;gnomADv4_1_nhomalt_joint_XY=1945;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28336989 chr22_28336989_T_G T G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.118;CADD_Rawscore=0.011101;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-30346A>C|||||||rs941637353||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28336989T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-30346A>C|||||||rs941637353||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28336989T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-30346A>C|||||||rs941637353||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28336989T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-30346A>C|||||||rs941637353||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28336989T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-30346A>C|||||||rs941637353||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28336989T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-30346A>C|||||||rs941637353||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28336989T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-30346A>C|||||||rs941637353||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28336989T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-30346A>C|||||||rs941637353||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28336989T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-30346A>C|||||||rs941637353||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28336989T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-30346A>C|||||||rs941637353||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28336989T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-30346A>C|||||||rs941637353||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28336989T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-30346A>C|||||||rs941637353||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28336989T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-30346A>C|||||||rs941637353||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28336989T>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-9|5|-9|14;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=137;gnomADv4_1_AC_joint_XX=65;gnomADv4_1_AC_joint_XY=72;gnomADv4_1_AF_grpmax_joint=0.000367528;gnomADv4_1_AF_joint=0.000900167;gnomADv4_1_AF_joint_XX=0.000835175;gnomADv4_1_AF_joint_XY=0.000968184;gnomADv4_1_AN_grpmax_joint=68022;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28337143 chr22_28337143_C_A C A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.368;CADD_Rawscore=-0.270116;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-30500G>T|||||||rs134495||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28337143C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-30500G>T|||||||rs134495||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28337143C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-30500G>T|||||||rs134495||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28337143C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-30500G>T|||||||rs134495||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28337143C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-30500G>T|||||||rs134495||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28337143C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-30500G>T|||||||rs134495||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28337143C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-30500G>T|||||||rs134495||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28337143C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-30500G>T|||||||rs134495||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28337143C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-30500G>T|||||||rs134495||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28337143C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-30500G>T|||||||rs134495||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28337143C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-30500G>T|||||||rs134495||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28337143C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-30500G>T|||||||rs134495||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28337143C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-30500G>T|||||||rs134495||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28337143C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-5|32|-44|48;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=133369;gnomADv4_1_AC_joint_XX=68234;gnomADv4_1_AC_joint_XY=65135;gnomADv4_1_AF_grpmax_joint=0.990351;gnomADv4_1_AF_joint=0.876655;gnomADv4_1_AF_joint_XX=0.877337;gnomADv4_1_AF_joint_XY=0.875941;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=58593;gnomADv4_1_nhomalt_joint_XX=30017;gnomADv4_1_nhomalt_joint_XY=28576;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28337748 chr22_28337748_T_C T C 49 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.135;CADD_Rawscore=-0.531122;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-31105A>G|||||||rs134496||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28337748T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-31105A>G|||||||rs134496||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28337748T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-31105A>G|||||||rs134496||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28337748T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-31105A>G|||||||rs134496||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28337748T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-31105A>G|||||||rs134496||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28337748T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-31105A>G|||||||rs134496||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28337748T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-31105A>G|||||||rs134496||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28337748T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-31105A>G|||||||rs134496||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28337748T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-31105A>G|||||||rs134496||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28337748T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-31105A>G|||||||rs134496||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28337748T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-31105A>G|||||||rs134496||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28337748T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-31105A>G|||||||rs134496||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28337748T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-31105A>G|||||||rs134496||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28337748T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|7|-13|-24|-6;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=148883;gnomADv4_1_AC_joint_XX=76095;gnomADv4_1_AC_joint_XY=72788;gnomADv4_1_AF_grpmax_joint=0.994193;gnomADv4_1_AF_joint=0.981146;gnomADv4_1_AF_joint_XX=0.980909;gnomADv4_1_AF_joint_XY=0.981394;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151744;gnomADv4_1_AN_joint_XX=77576;gnomADv4_1_AN_joint_XY=74168;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73028;gnomADv4_1_nhomalt_joint_XX=37314;gnomADv4_1_nhomalt_joint_XY=35714;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28339139 chr22_28339139_C_T C T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.934;CADD_Rawscore=0.268065;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-32496G>A|||||||rs134497||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28339139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-32496G>A|||||||rs134497||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28339139C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-32496G>A|||||||rs134497||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28339139C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-32496G>A|||||||rs134497||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28339139C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-32496G>A|||||||rs134497||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28339139C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-32496G>A|||||||rs134497||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28339139C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-32496G>A|||||||rs134497||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28339139C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-32496G>A|||||||rs134497||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28339139C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-32496G>A|||||||rs134497||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28339139C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-32496G>A|||||||rs134497||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28339139C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-32496G>A|||||||rs134497||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28339139C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-32496G>A|||||||rs134497||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28339139C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-32496G>A|||||||rs134497||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28339139C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|8|16|8|17;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=146424;gnomADv4_1_AC_joint_XX=74742;gnomADv4_1_AC_joint_XY=71682;gnomADv4_1_AF_grpmax_joint=0.994393;gnomADv4_1_AF_joint=0.96133;gnomADv4_1_AF_joint_XX=0.960348;gnomADv4_1_AF_joint_XY=0.962355;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152314;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70453;gnomADv4_1_nhomalt_joint_XX=35922;gnomADv4_1_nhomalt_joint_XY=34531;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28339719 chr22_28339719_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.288;CADD_Rawscore=-0.332591;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-33076A>G|||||||rs134498||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28339719T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-33076A>G|||||||rs134498||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28339719T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-33076A>G|||||||rs134498||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28339719T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-33076A>G|||||||rs134498||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28339719T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-33076A>G|||||||rs134498||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28339719T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-33076A>G|||||||rs134498||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28339719T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-33076A>G|||||||rs134498||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28339719T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-33076A>G|||||||rs134498||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28339719T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-33076A>G|||||||rs134498||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28339719T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-33076A>G|||||||rs134498||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28339719T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-33076A>G|||||||rs134498||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28339719T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-33076A>G|||||||rs134498||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28339719T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-33076A>G|||||||rs134498||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28339719T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|5|-10|5|47;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149394;gnomADv4_1_AC_joint_XX=76352;gnomADv4_1_AC_joint_XY=73042;gnomADv4_1_AF_grpmax_joint=0.993971;gnomADv4_1_AF_joint=0.981022;gnomADv4_1_AF_joint_XX=0.980884;gnomADv4_1_AF_joint_XY=0.981167;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=152284;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73282;gnomADv4_1_nhomalt_joint_XX=37444;gnomADv4_1_nhomalt_joint_XY=35838;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28340463 chr22_28340463_T_TA T TA 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=5.285;CADDIndel_Rawscore=0.482771;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-33821dup|||||||rs554273080||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28340477dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-33821dup|||||||rs554273080||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28340477dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-33821dup|||||||rs554273080||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28340477dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-33821dup|||||||rs554273080||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28340477dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-33821dup|||||||rs554273080||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28340477dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-33821dup|||||||rs554273080||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28340477dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-33821dup|||||||rs554273080||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28340477dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-33821dup|||||||rs554273080||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28340477dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-33821dup|||||||rs554273080||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28340477dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-33821dup|||||||rs554273080||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28340477dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-33821dup|||||||rs554273080||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28340477dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-33821dup|||||||rs554273080||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28340477dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-33821dup|||||||rs554273080||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28340477dup|||||||||||||;SpliceAI=TA|TTC28|0.00|0.00|0.00|0.00|-22|-3|-11|32;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2958;gnomADv4_1_AC_joint_XX=1560;gnomADv4_1_AC_joint_XY=1398;gnomADv4_1_AF_grpmax_joint=0.0694695;gnomADv4_1_AF_joint=0.0215378;gnomADv4_1_AF_joint_XX=0.0219873;gnomADv4_1_AF_joint_XY=0.0210574;gnomADv4_1_AN_grpmax_joint=37628;gnomADv4_1_AN_joint=137340;gnomADv4_1_AN_joint_XX=70950;gnomADv4_1_AN_joint_XY=66390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=81;gnomADv4_1_nhomalt_joint_XX=49;gnomADv4_1_nhomalt_joint_XY=32;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28342580 chr22_28342580_T_TA T TA 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=4.843;CADDIndel_Rawscore=0.441208;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-35938dup|||||||rs134499||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28342585dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-35938dup|||||||rs134499||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28342585dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-35938dup|||||||rs134499||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28342585dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-35938dup|||||||rs134499||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28342585dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-35938dup|||||||rs134499||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28342585dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-35938dup|||||||rs134499||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28342585dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-35938dup|||||||rs134499||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28342585dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-35938dup|||||||rs134499||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28342585dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-35938dup|||||||rs134499||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28342585dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-35938dup|||||||rs134499||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28342585dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-35938dup|||||||rs134499||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28342585dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-35938dup|||||||rs134499||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28342585dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-35938dup|||||||rs134499||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28342585dup|||||||||||||;SpliceAI=TA|TTC28|0.00|0.00|0.00|0.00|5|49|-14|23;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32741;gnomADv4_1_AC_joint_XX=16856;gnomADv4_1_AC_joint_XY=15885;gnomADv4_1_AF_grpmax_joint=0.245865;gnomADv4_1_AF_joint=0.215345;gnomADv4_1_AF_joint_XX=0.21682;gnomADv4_1_AF_joint_XY=0.213801;gnomADv4_1_AN_grpmax_joint=67956;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3766;gnomADv4_1_nhomalt_joint_XX=1977;gnomADv4_1_nhomalt_joint_XY=1789;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28343529 chr22_28343529_C_CA C CA 49 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.918;CADDIndel_Rawscore=-0.039914;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-36887dup|||||||rs35941888||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28343543dup|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-36887dup|||||||rs35941888||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28343543dup|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-36887dup|||||||rs35941888||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28343543dup|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-36887dup|||||||rs35941888||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28343543dup|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-36887dup|||||||rs35941888||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28343543dup|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-36887dup|||||||rs35941888||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28343543dup|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-36887dup|||||||rs35941888||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28343543dup|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-36887dup|||||||rs35941888||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28343543dup|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-36887dup|||||||rs35941888||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28343543dup|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-36887dup|||||||rs35941888||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28343543dup|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-36887dup|||||||rs35941888||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28343543dup|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-36887dup|||||||rs35941888||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28343543dup|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-36887dup|||||||rs35941888||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28343543dup|||1||||||||||;SpliceAI=CA|TTC28|0.00|0.00|0.00|0.00|15|-7|26|49;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77255;gnomADv4_1_AC_joint_XX=39683;gnomADv4_1_AC_joint_XY=37572;gnomADv4_1_AF_grpmax_joint=0.716785;gnomADv4_1_AF_joint=0.574199;gnomADv4_1_AF_joint_XX=0.570076;gnomADv4_1_AF_joint_XY=0.578618;gnomADv4_1_AN_grpmax_joint=4230;gnomADv4_1_AN_joint=134544;gnomADv4_1_AN_joint_XX=69610;gnomADv4_1_AN_joint_XY=64934;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=21290;gnomADv4_1_nhomalt_joint_XX=10910;gnomADv4_1_nhomalt_joint_XY=10380;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28344595 chr22_28344595_C_T C T 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=3.943;CADD_Rawscore=0.360141;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-37952G>A|||||||rs134500||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28344595C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-37952G>A|||||||rs134500||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28344595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-37952G>A|||||||rs134500||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28344595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-37952G>A|||||||rs134500||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28344595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-37952G>A|||||||rs134500||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28344595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-37952G>A|||||||rs134500||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28344595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-37952G>A|||||||rs134500||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28344595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-37952G>A|||||||rs134500||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28344595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-37952G>A|||||||rs134500||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28344595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-37952G>A|||||||rs134500||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28344595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-37952G>A|||||||rs134500||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28344595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-37952G>A|||||||rs134500||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28344595C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-37952G>A|||||||rs134500||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28344595C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|50|15|-8;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36765;gnomADv4_1_AC_joint_XX=18980;gnomADv4_1_AC_joint_XY=17785;gnomADv4_1_AF_grpmax_joint=0.262409;gnomADv4_1_AF_joint=0.241885;gnomADv4_1_AF_joint_XX=0.244267;gnomADv4_1_AF_joint_XY=0.239393;gnomADv4_1_AN_grpmax_joint=41462;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4630;gnomADv4_1_nhomalt_joint_XX=2438;gnomADv4_1_nhomalt_joint_XY=2192;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28345757 chr22_28345757_A_G A G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=15.3;CADD_Rawscore=1.70064;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-39114T>C|||||||rs9608677||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28345757A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-39114T>C|||||||rs9608677||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28345757A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-39114T>C|||||||rs9608677||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28345757A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-39114T>C|||||||rs9608677||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28345757A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-39114T>C|||||||rs9608677||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28345757A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-39114T>C|||||||rs9608677||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28345757A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-39114T>C|||||||rs9608677||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28345757A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-39114T>C|||||||rs9608677||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28345757A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-39114T>C|||||||rs9608677||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28345757A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-39114T>C|||||||rs9608677||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28345757A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-39114T>C|||||||rs9608677||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28345757A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-39114T>C|||||||rs9608677||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28345757A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-39114T>C|||||||rs9608677||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28345757A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|40|-44|-35|20;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28041;gnomADv4_1_AC_joint_XX=14430;gnomADv4_1_AC_joint_XY=13611;gnomADv4_1_AF_grpmax_joint=0.260602;gnomADv4_1_AF_joint=0.184245;gnomADv4_1_AF_joint_XX=0.18548;gnomADv4_1_AF_joint_XY=0.182953;gnomADv4_1_AN_grpmax_joint=68004;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3305;gnomADv4_1_nhomalt_joint_XX=1698;gnomADv4_1_nhomalt_joint_XY=1607;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28346358 chr22_28346358_C_T C T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.404;CADD_Rawscore=-0.246555;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-39715G>A|||||||rs134501||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28346358C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-39715G>A|||||||rs134501||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28346358C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-39715G>A|||||||rs134501||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28346358C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-39715G>A|||||||rs134501||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28346358C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-39715G>A|||||||rs134501||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28346358C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-39715G>A|||||||rs134501||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28346358C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-39715G>A|||||||rs134501||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28346358C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-39715G>A|||||||rs134501||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28346358C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-39715G>A|||||||rs134501||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28346358C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-39715G>A|||||||rs134501||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28346358C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-39715G>A|||||||rs134501||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28346358C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-39715G>A|||||||rs134501||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28346358C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-39715G>A|||||||rs134501||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28346358C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|7|-1|28|0;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149187;gnomADv4_1_AC_joint_XX=76235;gnomADv4_1_AC_joint_XY=72952;gnomADv4_1_AF_grpmax_joint=0.994397;gnomADv4_1_AF_joint=0.97938;gnomADv4_1_AF_joint_XX=0.979255;gnomADv4_1_AF_joint_XY=0.979511;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152328;gnomADv4_1_AN_joint_XX=77850;gnomADv4_1_AN_joint_XY=74478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73055;gnomADv4_1_nhomalt_joint_XX=37324;gnomADv4_1_nhomalt_joint_XY=35731;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28347271 chr22_28347271_G_GA G GA 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.346;CADDIndel_Rawscore=-0.286023;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-40629dup|||||||rs201082591||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28347285dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-40629dup|||||||rs201082591||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28347285dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-40629dup|||||||rs201082591||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28347285dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-40629dup|||||||rs201082591||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28347285dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-40629dup|||||||rs201082591||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28347285dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-40629dup|||||||rs201082591||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28347285dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-40629dup|||||||rs201082591||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28347285dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-40629dup|||||||rs201082591||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28347285dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-40629dup|||||||rs201082591||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28347285dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-40629dup|||||||rs201082591||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28347285dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-40629dup|||||||rs201082591||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28347285dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-40629dup|||||||rs201082591||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28347285dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-40629dup|||||||rs201082591||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28347285dup|||||||||||||;SpliceAI=GA|TTC28|0.00|0.00|0.00|0.00|-15|-11|-48|5;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27982;gnomADv4_1_AC_joint_XX=14307;gnomADv4_1_AC_joint_XY=13675;gnomADv4_1_AF_grpmax_joint=0.421671;gnomADv4_1_AF_joint=0.242059;gnomADv4_1_AF_joint_XX=0.237824;gnomADv4_1_AF_joint_XY=0.246654;gnomADv4_1_AN_grpmax_joint=12256;gnomADv4_1_AN_joint=115600;gnomADv4_1_AN_joint_XX=60158;gnomADv4_1_AN_joint_XY=55442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=3254;gnomADv4_1_nhomalt_joint_XX=1589;gnomADv4_1_nhomalt_joint_XY=1665;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28347609 chr22_28347609_T_C T C 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.237;CADD_Rawscore=-0.382648;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-40966A>G|||||||rs134502||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28347609T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-40966A>G|||||||rs134502||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28347609T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-40966A>G|||||||rs134502||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28347609T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-40966A>G|||||||rs134502||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28347609T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-40966A>G|||||||rs134502||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28347609T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-40966A>G|||||||rs134502||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28347609T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-40966A>G|||||||rs134502||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28347609T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-40966A>G|||||||rs134502||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28347609T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-40966A>G|||||||rs134502||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28347609T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-40966A>G|||||||rs134502||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28347609T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-40966A>G|||||||rs134502||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28347609T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-40966A>G|||||||rs134502||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28347609T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-40966A>G|||||||rs134502||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28347609T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-21|-18|-21|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149433;gnomADv4_1_AC_joint_XX=76357;gnomADv4_1_AC_joint_XY=73076;gnomADv4_1_AF_grpmax_joint=0.994395;gnomADv4_1_AF_joint=0.981046;gnomADv4_1_AF_joint_XX=0.980898;gnomADv4_1_AF_joint_XY=0.981202;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152320;gnomADv4_1_AN_joint_XX=77844;gnomADv4_1_AN_joint_XY=74476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73303;gnomADv4_1_nhomalt_joint_XX=37447;gnomADv4_1_nhomalt_joint_XY=35856;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28348598 chr22_28348598_G_A G A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.339;CADD_Rawscore=0.205696;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-41955C>T|||||||rs134503||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28348598G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-41955C>T|||||||rs134503||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28348598G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-41955C>T|||||||rs134503||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28348598G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-41955C>T|||||||rs134503||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28348598G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-41955C>T|||||||rs134503||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28348598G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-41955C>T|||||||rs134503||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28348598G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-41955C>T|||||||rs134503||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28348598G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-41955C>T|||||||rs134503||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28348598G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-41955C>T|||||||rs134503||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28348598G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-41955C>T|||||||rs134503||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28348598G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-41955C>T|||||||rs134503||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28348598G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-41955C>T|||||||rs134503||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28348598G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-41955C>T|||||||rs134503||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28348598G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-11|47|8|-20;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=146497;gnomADv4_1_AC_joint_XX=74786;gnomADv4_1_AC_joint_XY=71711;gnomADv4_1_AF_grpmax_joint=0.994404;gnomADv4_1_AF_joint=0.96191;gnomADv4_1_AF_joint_XX=0.960889;gnomADv4_1_AF_joint_XY=0.962977;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152298;gnomADv4_1_AN_joint_XX=77830;gnomADv4_1_AN_joint_XY=74468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70523;gnomADv4_1_nhomalt_joint_XX=35960;gnomADv4_1_nhomalt_joint_XY=34563;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28349446 chr22_28349446_C_A C A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=4.464;CADD_Rawscore=0.406658;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-42803G>T|||||||rs134504||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28349446C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-42803G>T|||||||rs134504||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28349446C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-42803G>T|||||||rs134504||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28349446C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-42803G>T|||||||rs134504||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28349446C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-42803G>T|||||||rs134504||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28349446C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-42803G>T|||||||rs134504||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28349446C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-42803G>T|||||||rs134504||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28349446C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-42803G>T|||||||rs134504||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28349446C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-42803G>T|||||||rs134504||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28349446C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-42803G>T|||||||rs134504||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28349446C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-42803G>T|||||||rs134504||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28349446C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-42803G>T|||||||rs134504||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28349446C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-42803G>T|||||||rs134504||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28349446C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|2|46|2|-2;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149099;gnomADv4_1_AC_joint_XX=76172;gnomADv4_1_AC_joint_XY=72927;gnomADv4_1_AF_grpmax_joint=0.994404;gnomADv4_1_AF_joint=0.978712;gnomADv4_1_AF_joint_XX=0.978471;gnomADv4_1_AF_joint_XY=0.978965;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152342;gnomADv4_1_AN_joint_XX=77848;gnomADv4_1_AN_joint_XY=74494;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72959;gnomADv4_1_nhomalt_joint_XX=37262;gnomADv4_1_nhomalt_joint_XY=35697;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28352312 chr22_28352312_CATAT_C;chr22_28352312_CAT_C CATAT C 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=1.031;CADDIndel_Rawscore=-0.009861;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-45673_382-45670del|||||||rs35793503||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||ATAT|ATAT||||chr22:g.28352333_28352336del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-45673_189-45670del|||||||rs35793503||-1||HGNC|HGNC:29179|5||||||||Ensembl||ATAT|ATAT||||chr22:g.28352333_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-45673_382-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||ATAT|ATAT||||chr22:g.28352333_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-45673_382-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||ATAT|ATAT||||chr22:g.28352333_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-45673_28-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||ATAT|ATAT||||chr22:g.28352333_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-45673_28-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||ATAT|ATAT||||chr22:g.28352333_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-45673_304-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||ATAT|ATAT||||chr22:g.28352333_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-45673_382-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||ATAT|ATAT||||chr22:g.28352333_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-45673_382-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||ATAT|ATAT||||chr22:g.28352333_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-45673_382-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||ATAT|ATAT||||chr22:g.28352333_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-45673_292-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||ATAT|ATAT||||chr22:g.28352333_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-45673_304-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||ATAT|ATAT||||chr22:g.28352333_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-45673_76-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||ATAT|ATAT||||chr22:g.28352333_28352336del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-21|1|5|1;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42336;gnomADv4_1_AC_joint_XX=21894;gnomADv4_1_AC_joint_XY=20442;gnomADv4_1_AF_grpmax_joint=0.402955;gnomADv4_1_AF_joint=0.296874;gnomADv4_1_AF_joint_XX=0.298194;gnomADv4_1_AF_joint_XY=0.295473;gnomADv4_1_AN_grpmax_joint=4534;gnomADv4_1_AN_joint=142606;gnomADv4_1_AN_joint_XX=73422;gnomADv4_1_AN_joint_XY=69184;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6447;gnomADv4_1_nhomalt_joint_XX=3352;gnomADv4_1_nhomalt_joint_XY=3095;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28352312 chr22_28352312_CATAT_C;chr22_28352312_CAT_C CAT C 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=1.051;CADDIndel_Rawscore=-0.004806;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-45671_382-45670del|||||||rs35793503||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||AT|AT||||chr22:g.28352335_28352336del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-45671_189-45670del|||||||rs35793503||-1||HGNC|HGNC:29179|5||||||||Ensembl||AT|AT||||chr22:g.28352335_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-45671_382-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||AT|AT||||chr22:g.28352335_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-45671_382-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||AT|AT||||chr22:g.28352335_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-45671_28-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||AT|AT||||chr22:g.28352335_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-45671_28-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||AT|AT||||chr22:g.28352335_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-45671_304-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||AT|AT||||chr22:g.28352335_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-45671_382-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||AT|AT||||chr22:g.28352335_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-45671_382-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||AT|AT||||chr22:g.28352335_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-45671_382-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||AT|AT||||chr22:g.28352335_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-45671_292-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||AT|AT||||chr22:g.28352335_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-45671_304-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||AT|AT||||chr22:g.28352335_28352336del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-45671_76-45670del|||||||rs35793503||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||AT|AT||||chr22:g.28352335_28352336del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|3|-46|3|1;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53056;gnomADv4_1_AC_joint_XX=27114;gnomADv4_1_AC_joint_XY=25942;gnomADv4_1_AF_grpmax_joint=0.45986;gnomADv4_1_AF_joint=0.372469;gnomADv4_1_AF_joint_XX=0.369814;gnomADv4_1_AF_joint_XY=0.375286;gnomADv4_1_AN_grpmax_joint=14300;gnomADv4_1_AN_joint=142444;gnomADv4_1_AN_joint_XX=73318;gnomADv4_1_AN_joint_XY=69126;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=9824;gnomADv4_1_nhomalt_joint_XX=4983;gnomADv4_1_nhomalt_joint_XY=4841;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28353578 chr22_28353578_TACAAAAGA_T TACAAAAGA T 24 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=24;CADDIndel_PHREDscore=2.289;CADDIndel_Rawscore=0.199886;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-46943_382-46936del|||||||rs777907104||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||ACAAAAGA|ACAAAAGA||||chr22:g.28353579_28353586del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-46943_189-46936del|||||||rs777907104||-1||HGNC|HGNC:29179|5||||||||Ensembl||ACAAAAGA|ACAAAAGA||||chr22:g.28353579_28353586del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-46943_382-46936del|||||||rs777907104||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||ACAAAAGA|ACAAAAGA||||chr22:g.28353579_28353586del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-46943_382-46936del|||||||rs777907104||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||ACAAAAGA|ACAAAAGA||||chr22:g.28353579_28353586del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-46943_28-46936del|||||||rs777907104||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||ACAAAAGA|ACAAAAGA||||chr22:g.28353579_28353586del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-46943_28-46936del|||||||rs777907104||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||ACAAAAGA|ACAAAAGA||||chr22:g.28353579_28353586del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-46943_304-46936del|||||||rs777907104||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||ACAAAAGA|ACAAAAGA||||chr22:g.28353579_28353586del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-46943_382-46936del|||||||rs777907104||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||ACAAAAGA|ACAAAAGA||||chr22:g.28353579_28353586del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-46943_382-46936del|||||||rs777907104||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||ACAAAAGA|ACAAAAGA||||chr22:g.28353579_28353586del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-46943_382-46936del|||||||rs777907104||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||ACAAAAGA|ACAAAAGA||||chr22:g.28353579_28353586del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-46943_292-46936del|||||||rs777907104||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||ACAAAAGA|ACAAAAGA||||chr22:g.28353579_28353586del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-46943_304-46936del|||||||rs777907104||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||ACAAAAGA|ACAAAAGA||||chr22:g.28353579_28353586del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-46943_76-46936del|||||||rs777907104||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||ACAAAAGA|ACAAAAGA||||chr22:g.28353579_28353586del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=170;gnomADv4_1_AC_joint_XX=80;gnomADv4_1_AC_joint_XY=90;gnomADv4_1_AF_grpmax_joint=0.00340136;gnomADv4_1_AF_joint=0.00111686;gnomADv4_1_AF_joint_XX=0.00102865;gnomADv4_1_AF_joint_XY=0.00120903;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152212;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28353587 chr22_28353587_C_T C T 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=27;CADD_PHREDscore=1.163;CADD_Rawscore=0.021457;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-46944G>A|||||||rs956504848||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28353587C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-46944G>A|||||||rs956504848||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28353587C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-46944G>A|||||||rs956504848||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28353587C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-46944G>A|||||||rs956504848||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28353587C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-46944G>A|||||||rs956504848||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28353587C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-46944G>A|||||||rs956504848||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28353587C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-46944G>A|||||||rs956504848||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28353587C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-46944G>A|||||||rs956504848||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28353587C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-46944G>A|||||||rs956504848||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28353587C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-46944G>A|||||||rs956504848||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28353587C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-46944G>A|||||||rs956504848||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28353587C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-46944G>A|||||||rs956504848||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28353587C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-46944G>A|||||||rs956504848||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28353587C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-28|22|-6|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=170;gnomADv4_1_AC_joint_XX=80;gnomADv4_1_AC_joint_XY=90;gnomADv4_1_AF_grpmax_joint=0.00340136;gnomADv4_1_AF_joint=0.00111714;gnomADv4_1_AF_joint_XX=0.00102828;gnomADv4_1_AF_joint_XY=0.0012101;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152174;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28354733 chr22_28354733_A_G A G 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=6.837;CADD_Rawscore=0.640538;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-48090T>C|||||||rs16986346||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28354733A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-48090T>C|||||||rs16986346||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28354733A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-48090T>C|||||||rs16986346||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28354733A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-48090T>C|||||||rs16986346||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28354733A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-48090T>C|||||||rs16986346||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28354733A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-48090T>C|||||||rs16986346||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28354733A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-48090T>C|||||||rs16986346||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28354733A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-48090T>C|||||||rs16986346||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28354733A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-48090T>C|||||||rs16986346||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28354733A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-48090T>C|||||||rs16986346||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28354733A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-48090T>C|||||||rs16986346||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28354733A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-48090T>C|||||||rs16986346||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28354733A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-48090T>C|||||||rs16986346||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28354733A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-14|5|-40|13;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9851;gnomADv4_1_AC_joint_XX=4820;gnomADv4_1_AC_joint_XY=5031;gnomADv4_1_AF_grpmax_joint=0.141017;gnomADv4_1_AF_joint=0.0646892;gnomADv4_1_AF_joint_XX=0.0619267;gnomADv4_1_AF_joint_XY=0.0675774;gnomADv4_1_AN_grpmax_joint=15296;gnomADv4_1_AN_joint=152282;gnomADv4_1_AN_joint_XX=77834;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=499;gnomADv4_1_nhomalt_joint_XX=220;gnomADv4_1_nhomalt_joint_XY=279;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28354826 chr22_28354826_CT_C CT C 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.876;CADDIndel_Rawscore=-0.051836;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-48184del|||||||rs59409055||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28354835del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-48184del|||||||rs59409055||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28354835del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-48184del|||||||rs59409055||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28354835del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-48184del|||||||rs59409055||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28354835del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-48184del|||||||rs59409055||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28354835del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-48184del|||||||rs59409055||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28354835del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-48184del|||||||rs59409055||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28354835del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-48184del|||||||rs59409055||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28354835del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-48184del|||||||rs59409055||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28354835del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-48184del|||||||rs59409055||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28354835del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-48184del|||||||rs59409055||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28354835del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-48184del|||||||rs59409055||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28354835del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-48184del|||||||rs59409055||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28354835del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-1|45|17|-1;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12299;gnomADv4_1_AC_joint_XX=6095;gnomADv4_1_AC_joint_XY=6204;gnomADv4_1_AF_grpmax_joint=0.145471;gnomADv4_1_AF_joint=0.0813297;gnomADv4_1_AF_joint_XX=0.0787346;gnomADv4_1_AF_joint_XY=0.0840514;gnomADv4_1_AN_grpmax_joint=15192;gnomADv4_1_AN_joint=151224;gnomADv4_1_AN_joint_XX=77412;gnomADv4_1_AN_joint_XY=73812;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=603;gnomADv4_1_nhomalt_joint_XX=276;gnomADv4_1_nhomalt_joint_XY=327;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28355055 chr22_28355055_G_T G T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.232;CADD_Rawscore=0.296285;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-48412C>A|||||||rs134505||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28355055G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-48412C>A|||||||rs134505||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28355055G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-48412C>A|||||||rs134505||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28355055G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-48412C>A|||||||rs134505||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28355055G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-48412C>A|||||||rs134505||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28355055G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-48412C>A|||||||rs134505||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28355055G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-48412C>A|||||||rs134505||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28355055G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-48412C>A|||||||rs134505||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28355055G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-48412C>A|||||||rs134505||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28355055G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-48412C>A|||||||rs134505||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28355055G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-48412C>A|||||||rs134505||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28355055G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-48412C>A|||||||rs134505||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28355055G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-48412C>A|||||||rs134505||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28355055G>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|-22|1|-38;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=147329;gnomADv4_1_AC_joint_XX=75387;gnomADv4_1_AC_joint_XY=71942;gnomADv4_1_AF_grpmax_joint=0.994829;gnomADv4_1_AF_joint=0.978683;gnomADv4_1_AF_joint_XX=0.978391;gnomADv4_1_AF_joint_XY=0.978989;gnomADv4_1_AN_grpmax_joint=5028;gnomADv4_1_AN_joint=150538;gnomADv4_1_AN_joint_XX=77052;gnomADv4_1_AN_joint_XY=73486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72090;gnomADv4_1_nhomalt_joint_XX=36874;gnomADv4_1_nhomalt_joint_XY=35216;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28356517 chr22_28356517_G_A G A 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=2.397;CADD_Rawscore=0.212309;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-49874C>T|||||||rs134506||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28356517G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-49874C>T|||||||rs134506||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28356517G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-49874C>T|||||||rs134506||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28356517G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-49874C>T|||||||rs134506||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28356517G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-49874C>T|||||||rs134506||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28356517G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-49874C>T|||||||rs134506||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28356517G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-49874C>T|||||||rs134506||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28356517G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-49874C>T|||||||rs134506||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28356517G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-49874C>T|||||||rs134506||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28356517G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-49874C>T|||||||rs134506||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28356517G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-49874C>T|||||||rs134506||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28356517G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-49874C>T|||||||rs134506||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28356517G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-49874C>T|||||||rs134506||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28356517G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|43|16|39|43;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=133206;gnomADv4_1_AC_joint_XX=68114;gnomADv4_1_AC_joint_XY=65092;gnomADv4_1_AF_grpmax_joint=0.990751;gnomADv4_1_AF_joint=0.874836;gnomADv4_1_AF_joint_XX=0.875321;gnomADv4_1_AF_joint_XY=0.874328;gnomADv4_1_AN_grpmax_joint=5190;gnomADv4_1_AN_joint=152264;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=58442;gnomADv4_1_nhomalt_joint_XX=29910;gnomADv4_1_nhomalt_joint_XY=28532;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28357315 chr22_28357315_A_AT A AT 22 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=.;AF_XY=0.5;AN=4;AN_XX=0;AN_XY=4;AQ=22;CADDIndel_PHREDscore=0.429;CADDIndel_Rawscore=-0.231699;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-50673dup|||||||rs11415868||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28357336dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-50673dup|||||||rs11415868||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28357336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-50673dup|||||||rs11415868||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28357336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-50673dup|||||||rs11415868||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28357336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-50673dup|||||||rs11415868||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28357336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-50673dup|||||||rs11415868||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28357336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-50673dup|||||||rs11415868||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28357336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-50673dup|||||||rs11415868||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28357336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-50673dup|||||||rs11415868||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28357336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-50673dup|||||||rs11415868||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28357336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-50673dup|||||||rs11415868||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28357336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-50673dup|||||||rs11415868||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28357336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-50673dup|||||||rs11415868||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28357336dup|||||||||||||;SpliceAI=AT|TTC28|0.00|0.00|0.00|0.00|-44|33|1|2;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65116;gnomADv4_1_AC_joint_XX=35159;gnomADv4_1_AC_joint_XY=29957;gnomADv4_1_AF_grpmax_joint=0.665493;gnomADv4_1_AF_joint=0.574063;gnomADv4_1_AF_joint_XX=0.57502;gnomADv4_1_AF_joint_XY=0.572945;gnomADv4_1_AN_grpmax_joint=3976;gnomADv4_1_AN_joint=113430;gnomADv4_1_AN_joint_XX=61144;gnomADv4_1_AN_joint_XY=52286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19733;gnomADv4_1_nhomalt_joint_XX=10572;gnomADv4_1_nhomalt_joint_XY=9161;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28357845 chr22_28357845_G_A G A 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.784;CADD_Rawscore=0.13373;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-51202C>T|||||||rs134507||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28357845G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-51202C>T|||||||rs134507||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28357845G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-51202C>T|||||||rs134507||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28357845G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-51202C>T|||||||rs134507||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28357845G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-51202C>T|||||||rs134507||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28357845G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-51202C>T|||||||rs134507||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28357845G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-51202C>T|||||||rs134507||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28357845G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-51202C>T|||||||rs134507||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28357845G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-51202C>T|||||||rs134507||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28357845G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-51202C>T|||||||rs134507||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28357845G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-51202C>T|||||||rs134507||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28357845G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-51202C>T|||||||rs134507||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28357845G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-51202C>T|||||||rs134507||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28357845G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|15|10|15|-34;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43402;gnomADv4_1_AC_joint_XX=22439;gnomADv4_1_AC_joint_XY=20963;gnomADv4_1_AF_grpmax_joint=0.391022;gnomADv4_1_AF_joint=0.285848;gnomADv4_1_AF_joint_XX=0.289066;gnomADv4_1_AF_joint_XY=0.282482;gnomADv4_1_AN_grpmax_joint=41366;gnomADv4_1_AN_joint=151836;gnomADv4_1_AN_joint_XX=77626;gnomADv4_1_AN_joint_XY=74210;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6711;gnomADv4_1_nhomalt_joint_XX=3544;gnomADv4_1_nhomalt_joint_XY=3167;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28358227 chr22_28358227_C_T C T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.836;CADD_Rawscore=0.350693;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-51584G>A|||||||rs79104||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28358227C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-51584G>A|||||||rs79104||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28358227C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-51584G>A|||||||rs79104||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28358227C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-51584G>A|||||||rs79104||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28358227C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-51584G>A|||||||rs79104||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28358227C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-51584G>A|||||||rs79104||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28358227C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-51584G>A|||||||rs79104||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28358227C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-51584G>A|||||||rs79104||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28358227C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-51584G>A|||||||rs79104||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28358227C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-51584G>A|||||||rs79104||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28358227C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-51584G>A|||||||rs79104||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28358227C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-51584G>A|||||||rs79104||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28358227C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-51584G>A|||||||rs79104||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28358227C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|16|5|-11|5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149208;gnomADv4_1_AC_joint_XX=76235;gnomADv4_1_AC_joint_XY=72973;gnomADv4_1_AF_grpmax_joint=0.994406;gnomADv4_1_AF_joint=0.979659;gnomADv4_1_AF_joint_XX=0.979431;gnomADv4_1_AF_joint_XY=0.979898;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152306;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74470;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73087;gnomADv4_1_nhomalt_joint_XX=37331;gnomADv4_1_nhomalt_joint_XY=35756;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28358795 chr22_28358795_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=4.88;CADD_Rawscore=0.444688;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-52152A>G|||||||rs134508||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28358795T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-52152A>G|||||||rs134508||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28358795T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-52152A>G|||||||rs134508||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28358795T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-52152A>G|||||||rs134508||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28358795T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-52152A>G|||||||rs134508||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28358795T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-52152A>G|||||||rs134508||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28358795T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-52152A>G|||||||rs134508||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28358795T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-52152A>G|||||||rs134508||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28358795T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-52152A>G|||||||rs134508||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28358795T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-52152A>G|||||||rs134508||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28358795T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-52152A>G|||||||rs134508||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28358795T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-52152A>G|||||||rs134508||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28358795T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-52152A>G|||||||rs134508||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28358795T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|1|-22|47|34;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149193;gnomADv4_1_AC_joint_XX=76244;gnomADv4_1_AC_joint_XY=72949;gnomADv4_1_AF_grpmax_joint=0.994404;gnomADv4_1_AF_joint=0.979638;gnomADv4_1_AF_joint_XX=0.979371;gnomADv4_1_AF_joint_XY=0.979918;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152294;gnomADv4_1_AN_joint_XX=77850;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73078;gnomADv4_1_nhomalt_joint_XX=37333;gnomADv4_1_nhomalt_joint_XY=35745;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28359557 chr22_28359557_C_G C G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.467;CADD_Rawscore=-0.210239;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-52914G>C|||||||rs134509||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28359557C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-52914G>C|||||||rs134509||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28359557C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-52914G>C|||||||rs134509||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28359557C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-52914G>C|||||||rs134509||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28359557C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-52914G>C|||||||rs134509||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28359557C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-52914G>C|||||||rs134509||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28359557C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-52914G>C|||||||rs134509||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28359557C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-52914G>C|||||||rs134509||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28359557C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-52914G>C|||||||rs134509||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28359557C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-52914G>C|||||||rs134509||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28359557C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-52914G>C|||||||rs134509||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28359557C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-52914G>C|||||||rs134509||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28359557C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-52914G>C|||||||rs134509||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28359557C>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|47|-33|-5|48;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149090;gnomADv4_1_AC_joint_XX=76176;gnomADv4_1_AC_joint_XY=72914;gnomADv4_1_AF_grpmax_joint=0.994402;gnomADv4_1_AF_joint=0.978949;gnomADv4_1_AF_joint_XX=0.978623;gnomADv4_1_AF_joint_XY=0.97929;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152296;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72973;gnomADv4_1_nhomalt_joint_XX=37270;gnomADv4_1_nhomalt_joint_XY=35703;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28360051 chr22_28360051_G_A G A 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=7.844;CADD_Rawscore=0.751435;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-53408C>T|||||||rs134510||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28360051G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-53408C>T|||||||rs134510||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28360051G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-53408C>T|||||||rs134510||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28360051G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-53408C>T|||||||rs134510||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28360051G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-53408C>T|||||||rs134510||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28360051G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-53408C>T|||||||rs134510||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28360051G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-53408C>T|||||||rs134510||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28360051G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-53408C>T|||||||rs134510||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28360051G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-53408C>T|||||||rs134510||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28360051G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-53408C>T|||||||rs134510||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28360051G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-53408C>T|||||||rs134510||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28360051G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-53408C>T|||||||rs134510||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28360051G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-53408C>T|||||||rs134510||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28360051G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.01|0.00|42|23|42|-17;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=146544;gnomADv4_1_AC_joint_XX=74827;gnomADv4_1_AC_joint_XY=71717;gnomADv4_1_AF_grpmax_joint=0.994404;gnomADv4_1_AF_joint=0.962826;gnomADv4_1_AF_joint_XX=0.961886;gnomADv4_1_AF_joint_XY=0.963809;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152202;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70610;gnomADv4_1_nhomalt_joint_XX=36017;gnomADv4_1_nhomalt_joint_XY=34593;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28360593 chr22_28360593_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=14.38;CADD_Rawscore=1.53297;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-53950T>C|||||||rs738199||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28360593A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-53950T>C|||||||rs738199||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28360593A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-53950T>C|||||||rs738199||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28360593A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-53950T>C|||||||rs738199||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28360593A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-53950T>C|||||||rs738199||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28360593A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-53950T>C|||||||rs738199||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28360593A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-53950T>C|||||||rs738199||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28360593A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-53950T>C|||||||rs738199||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28360593A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-53950T>C|||||||rs738199||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28360593A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-53950T>C|||||||rs738199||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28360593A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-53950T>C|||||||rs738199||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28360593A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-53950T>C|||||||rs738199||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28360593A>G|||1||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-53950T>C|||||||rs738199||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28360593A>G|||1||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|38|-5|38|-5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54293;gnomADv4_1_AC_joint_XX=27790;gnomADv4_1_AC_joint_XY=26503;gnomADv4_1_AF_grpmax_joint=0.462585;gnomADv4_1_AF_joint=0.357092;gnomADv4_1_AF_joint_XX=0.357492;gnomADv4_1_AF_joint_XY=0.356674;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=10124;gnomADv4_1_nhomalt_joint_XX=5172;gnomADv4_1_nhomalt_joint_XY=4952;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28360722 chr22_28360722_C_T C T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.39;CADD_Rawscore=-0.255677;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-54079G>A|||||||rs79107||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28360722C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-54079G>A|||||||rs79107||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28360722C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-54079G>A|||||||rs79107||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28360722C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-54079G>A|||||||rs79107||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28360722C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-54079G>A|||||||rs79107||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28360722C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-54079G>A|||||||rs79107||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28360722C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-54079G>A|||||||rs79107||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28360722C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-54079G>A|||||||rs79107||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28360722C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-54079G>A|||||||rs79107||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28360722C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-54079G>A|||||||rs79107||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28360722C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-54079G>A|||||||rs79107||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28360722C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-54079G>A|||||||rs79107||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28360722C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-54079G>A|||||||rs79107||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28360722C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-47|30|11|-9;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149131;gnomADv4_1_AC_joint_XX=76190;gnomADv4_1_AC_joint_XY=72941;gnomADv4_1_AF_grpmax_joint=0.994404;gnomADv4_1_AF_joint=0.979012;gnomADv4_1_AF_joint_XX=0.978702;gnomADv4_1_AF_joint_XY=0.979337;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152328;gnomADv4_1_AN_joint_XX=77848;gnomADv4_1_AN_joint_XY=74480;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72998;gnomADv4_1_nhomalt_joint_XX=37280;gnomADv4_1_nhomalt_joint_XY=35718;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28361538 chr22_28361538_A_C A C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.802;CADD_Rawscore=-0.07443;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-54895T>G|||||||rs5762568||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28361538A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-54895T>G|||||||rs5762568||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28361538A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-54895T>G|||||||rs5762568||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28361538A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-54895T>G|||||||rs5762568||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28361538A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-54895T>G|||||||rs5762568||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28361538A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-54895T>G|||||||rs5762568||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28361538A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-54895T>G|||||||rs5762568||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28361538A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-54895T>G|||||||rs5762568||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28361538A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-54895T>G|||||||rs5762568||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28361538A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-54895T>G|||||||rs5762568||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28361538A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-54895T>G|||||||rs5762568||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28361538A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-54895T>G|||||||rs5762568||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28361538A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-54895T>G|||||||rs5762568||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28361538A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|15|-18|1|43;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12976;gnomADv4_1_AC_joint_XX=6510;gnomADv4_1_AC_joint_XY=6466;gnomADv4_1_AF_grpmax_joint=0.163265;gnomADv4_1_AF_joint=0.0852428;gnomADv4_1_AF_joint_XX=0.0836739;gnomADv4_1_AF_joint_XY=0.0868829;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152224;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=682;gnomADv4_1_nhomalt_joint_XX=319;gnomADv4_1_nhomalt_joint_XY=363;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28361962 chr22_28361962_C_T C T 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=4.81;CADD_Rawscore=0.43822;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-55319G>A|||||||rs5752726||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28361962C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-55319G>A|||||||rs5752726||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28361962C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-55319G>A|||||||rs5752726||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28361962C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-55319G>A|||||||rs5752726||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28361962C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-55319G>A|||||||rs5752726||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28361962C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-55319G>A|||||||rs5752726||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28361962C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-55319G>A|||||||rs5752726||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28361962C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-55319G>A|||||||rs5752726||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28361962C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-55319G>A|||||||rs5752726||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28361962C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-55319G>A|||||||rs5752726||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28361962C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-55319G>A|||||||rs5752726||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28361962C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-55319G>A|||||||rs5752726||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28361962C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-55319G>A|||||||rs5752726||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28361962C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-4|-1|-31|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21073;gnomADv4_1_AC_joint_XX=10491;gnomADv4_1_AC_joint_XY=10582;gnomADv4_1_AF_grpmax_joint=0.368136;gnomADv4_1_AF_joint=0.138443;gnomADv4_1_AF_joint_XX=0.134849;gnomADv4_1_AF_joint_XY=0.142201;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1817;gnomADv4_1_nhomalt_joint_XX=825;gnomADv4_1_nhomalt_joint_XY=992;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28362438 chr22_28362438_G_T G T 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.681;CADD_Rawscore=0.242789;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-55795C>A|||||||rs134511||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28362438G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-55795C>A|||||||rs134511||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28362438G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-55795C>A|||||||rs134511||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28362438G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-55795C>A|||||||rs134511||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28362438G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-55795C>A|||||||rs134511||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28362438G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-55795C>A|||||||rs134511||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28362438G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-55795C>A|||||||rs134511||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28362438G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-55795C>A|||||||rs134511||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28362438G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-55795C>A|||||||rs134511||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28362438G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-55795C>A|||||||rs134511||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28362438G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-55795C>A|||||||rs134511||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28362438G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-55795C>A|||||||rs134511||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28362438G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-55795C>A|||||||rs134511||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28362438G>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-25|32|5|-30;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=127809;gnomADv4_1_AC_joint_XX=65235;gnomADv4_1_AC_joint_XY=62574;gnomADv4_1_AF_grpmax_joint=0.990537;gnomADv4_1_AF_joint=0.840561;gnomADv4_1_AF_joint_XX=0.839251;gnomADv4_1_AF_joint_XY=0.841931;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152052;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=53918;gnomADv4_1_nhomalt_joint_XX=27485;gnomADv4_1_nhomalt_joint_XY=26433;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28362920 chr22_28362920_C_T C T 61 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=61;CADD_PHREDscore=0.413;CADD_Rawscore=-0.240852;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-56277G>A|||||||rs134512||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28362920C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-56277G>A|||||||rs134512||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28362920C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-56277G>A|||||||rs134512||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28362920C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-56277G>A|||||||rs134512||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28362920C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-56277G>A|||||||rs134512||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28362920C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-56277G>A|||||||rs134512||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28362920C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-56277G>A|||||||rs134512||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28362920C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-56277G>A|||||||rs134512||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28362920C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-56277G>A|||||||rs134512||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28362920C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-56277G>A|||||||rs134512||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28362920C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-56277G>A|||||||rs134512||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28362920C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-56277G>A|||||||rs134512||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28362920C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-56277G>A|||||||rs134512||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28362920C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-37|0|3|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149087;gnomADv4_1_AC_joint_XX=76162;gnomADv4_1_AC_joint_XY=72925;gnomADv4_1_AF_grpmax_joint=0.994393;gnomADv4_1_AF_joint=0.979251;gnomADv4_1_AF_joint_XX=0.979072;gnomADv4_1_AF_joint_XY=0.979438;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152246;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72996;gnomADv4_1_nhomalt_joint_XX=37281;gnomADv4_1_nhomalt_joint_XY=35715;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28362992 chr22_28362992_A_C A C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.866;CADD_Rawscore=0.145553;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-56349T>G|||||||rs5752728||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28362992A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-56349T>G|||||||rs5752728||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28362992A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-56349T>G|||||||rs5752728||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28362992A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-56349T>G|||||||rs5752728||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28362992A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-56349T>G|||||||rs5752728||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28362992A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-56349T>G|||||||rs5752728||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28362992A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-56349T>G|||||||rs5752728||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28362992A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-56349T>G|||||||rs5752728||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28362992A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-56349T>G|||||||rs5752728||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28362992A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-56349T>G|||||||rs5752728||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28362992A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-56349T>G|||||||rs5752728||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28362992A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-56349T>G|||||||rs5752728||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28362992A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-56349T>G|||||||rs5752728||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28362992A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|5|11|5|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35301;gnomADv4_1_AC_joint_XX=17885;gnomADv4_1_AC_joint_XY=17416;gnomADv4_1_AF_grpmax_joint=0.388449;gnomADv4_1_AF_joint=0.232421;gnomADv4_1_AF_joint_XX=0.230334;gnomADv4_1_AF_joint_XY=0.234603;gnomADv4_1_AN_grpmax_joint=4796;gnomADv4_1_AN_joint=151884;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5191;gnomADv4_1_nhomalt_joint_XX=2589;gnomADv4_1_nhomalt_joint_XY=2602;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28365875 chr22_28365875_A_T A T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.604;CADD_Rawscore=0.513745;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-59232T>A|||||||rs134513||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28365875A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-59232T>A|||||||rs134513||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28365875A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-59232T>A|||||||rs134513||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28365875A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-59232T>A|||||||rs134513||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28365875A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-59232T>A|||||||rs134513||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28365875A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-59232T>A|||||||rs134513||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28365875A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-59232T>A|||||||rs134513||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28365875A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-59232T>A|||||||rs134513||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28365875A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-59232T>A|||||||rs134513||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28365875A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-59232T>A|||||||rs134513||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28365875A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-59232T>A|||||||rs134513||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28365875A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-59232T>A|||||||rs134513||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28365875A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-59232T>A|||||||rs134513||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28365875A>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|8|-11|-16|-48;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149053;gnomADv4_1_AC_joint_XX=76143;gnomADv4_1_AC_joint_XY=72910;gnomADv4_1_AF_grpmax_joint=0.994397;gnomADv4_1_AF_joint=0.97877;gnomADv4_1_AF_joint_XX=0.97845;gnomADv4_1_AF_joint_XY=0.979105;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152286;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74466;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72943;gnomADv4_1_nhomalt_joint_XX=37247;gnomADv4_1_nhomalt_joint_XY=35696;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28366046 chr22_28366046_C_T C T 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.168;CADD_Rawscore=0.022483;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-59403G>A|||||||rs134514||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28366046C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-59403G>A|||||||rs134514||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28366046C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-59403G>A|||||||rs134514||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28366046C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-59403G>A|||||||rs134514||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28366046C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-59403G>A|||||||rs134514||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28366046C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-59403G>A|||||||rs134514||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28366046C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-59403G>A|||||||rs134514||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28366046C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-59403G>A|||||||rs134514||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28366046C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-59403G>A|||||||rs134514||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28366046C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-59403G>A|||||||rs134514||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28366046C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-59403G>A|||||||rs134514||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28366046C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-59403G>A|||||||rs134514||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28366046C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-59403G>A|||||||rs134514||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28366046C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|-21|8|49;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=132378;gnomADv4_1_AC_joint_XX=67683;gnomADv4_1_AC_joint_XY=64695;gnomADv4_1_AF_grpmax_joint=0.990362;gnomADv4_1_AF_joint=0.869775;gnomADv4_1_AF_joint_XX=0.869984;gnomADv4_1_AF_joint_XY=0.869556;gnomADv4_1_AN_grpmax_joint=5188;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=57667;gnomADv4_1_nhomalt_joint_XX=29513;gnomADv4_1_nhomalt_joint_XY=28154;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 28366157 chr22_28366157_T_A T A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=6.862;CADD_Rawscore=0.643138;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-59514A>T|||||||rs5752729||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28366157T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-59514A>T|||||||rs5752729||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28366157T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-59514A>T|||||||rs5752729||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28366157T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-59514A>T|||||||rs5752729||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28366157T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-59514A>T|||||||rs5752729||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28366157T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-59514A>T|||||||rs5752729||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28366157T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-59514A>T|||||||rs5752729||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28366157T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-59514A>T|||||||rs5752729||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28366157T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-59514A>T|||||||rs5752729||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28366157T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-59514A>T|||||||rs5752729||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28366157T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-59514A>T|||||||rs5752729||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28366157T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-59514A>T|||||||rs5752729||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28366157T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-59514A>T|||||||rs5752729||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28366157T>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-12|34|-12|-41;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39967;gnomADv4_1_AC_joint_XX=20418;gnomADv4_1_AC_joint_XY=19549;gnomADv4_1_AF_grpmax_joint=0.392783;gnomADv4_1_AF_joint=0.262751;gnomADv4_1_AF_joint_XX=0.26257;gnomADv4_1_AF_joint_XY=0.262939;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6575;gnomADv4_1_nhomalt_joint_XX=3366;gnomADv4_1_nhomalt_joint_XY=3209;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28366759 chr22_28366759_C_T C T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.176;CADD_Rawscore=0.0244;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-60116G>A|||||||rs5762572||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28366759C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-60116G>A|||||||rs5762572||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28366759C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-60116G>A|||||||rs5762572||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28366759C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-60116G>A|||||||rs5762572||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28366759C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-60116G>A|||||||rs5762572||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28366759C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-60116G>A|||||||rs5762572||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28366759C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-60116G>A|||||||rs5762572||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28366759C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-60116G>A|||||||rs5762572||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28366759C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-60116G>A|||||||rs5762572||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28366759C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-60116G>A|||||||rs5762572||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28366759C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-60116G>A|||||||rs5762572||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28366759C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-60116G>A|||||||rs5762572||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28366759C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-60116G>A|||||||rs5762572||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28366759C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-35|29|16|29;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39766;gnomADv4_1_AC_joint_XX=20343;gnomADv4_1_AC_joint_XY=19423;gnomADv4_1_AF_grpmax_joint=0.389074;gnomADv4_1_AF_joint=0.262343;gnomADv4_1_AF_joint_XX=0.262396;gnomADv4_1_AF_joint_XY=0.262289;gnomADv4_1_AN_grpmax_joint=4796;gnomADv4_1_AN_joint=151580;gnomADv4_1_AN_joint_XX=77528;gnomADv4_1_AN_joint_XY=74052;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6542;gnomADv4_1_nhomalt_joint_XX=3356;gnomADv4_1_nhomalt_joint_XY=3186;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28366903 chr22_28366903_C_T C T 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.763;CADD_Rawscore=-0.087025;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-60260G>A|||||||rs134515||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28366903C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-60260G>A|||||||rs134515||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28366903C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-60260G>A|||||||rs134515||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28366903C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-60260G>A|||||||rs134515||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28366903C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-60260G>A|||||||rs134515||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28366903C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-60260G>A|||||||rs134515||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28366903C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-60260G>A|||||||rs134515||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28366903C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-60260G>A|||||||rs134515||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28366903C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-60260G>A|||||||rs134515||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28366903C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-60260G>A|||||||rs134515||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28366903C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-60260G>A|||||||rs134515||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28366903C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-60260G>A|||||||rs134515||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28366903C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-60260G>A|||||||rs134515||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28366903C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|25|-28|7|46;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=148861;gnomADv4_1_AC_joint_XX=76078;gnomADv4_1_AC_joint_XY=72783;gnomADv4_1_AF_grpmax_joint=0.994399;gnomADv4_1_AF_joint=0.978357;gnomADv4_1_AF_joint_XX=0.978118;gnomADv4_1_AF_joint_XY=0.978608;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72818;gnomADv4_1_nhomalt_joint_XX=37202;gnomADv4_1_nhomalt_joint_XY=35616;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28367492 chr22_28367492_C_T C T 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.39;CADD_Rawscore=-0.255683;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-60849G>A|||||||rs5762573||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28367492C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-60849G>A|||||||rs5762573||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28367492C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-60849G>A|||||||rs5762573||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28367492C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-60849G>A|||||||rs5762573||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28367492C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-60849G>A|||||||rs5762573||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28367492C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-60849G>A|||||||rs5762573||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28367492C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-60849G>A|||||||rs5762573||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28367492C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-60849G>A|||||||rs5762573||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28367492C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-60849G>A|||||||rs5762573||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28367492C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-60849G>A|||||||rs5762573||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28367492C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-60849G>A|||||||rs5762573||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28367492C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-60849G>A|||||||rs5762573||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28367492C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-60849G>A|||||||rs5762573||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28367492C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|49|-24|14|0;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=148800;gnomADv4_1_AC_joint_XX=76020;gnomADv4_1_AC_joint_XY=72780;gnomADv4_1_AF_grpmax_joint=0.994406;gnomADv4_1_AF_joint=0.978754;gnomADv4_1_AF_joint_XX=0.978429;gnomADv4_1_AF_joint_XY=0.979094;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152030;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72818;gnomADv4_1_nhomalt_joint_XX=37186;gnomADv4_1_nhomalt_joint_XY=35632;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28369547 chr22_28369547_G_A G A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.099;CADD_Rawscore=0.283886;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-62904C>T|||||||rs134516||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28369547G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-62904C>T|||||||rs134516||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28369547G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-62904C>T|||||||rs134516||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28369547G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-62904C>T|||||||rs134516||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28369547G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-62904C>T|||||||rs134516||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28369547G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-62904C>T|||||||rs134516||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28369547G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-62904C>T|||||||rs134516||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28369547G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-62904C>T|||||||rs134516||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28369547G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-62904C>T|||||||rs134516||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28369547G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-62904C>T|||||||rs134516||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28369547G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-62904C>T|||||||rs134516||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28369547G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-62904C>T|||||||rs134516||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28369547G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-62904C>T|||||||rs134516||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28369547G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-21|44|2|4;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=146621;gnomADv4_1_AC_joint_XX=74862;gnomADv4_1_AC_joint_XY=71759;gnomADv4_1_AF_grpmax_joint=0.994417;gnomADv4_1_AF_joint=0.962585;gnomADv4_1_AF_joint_XX=0.961643;gnomADv4_1_AF_joint_XY=0.96357;gnomADv4_1_AN_grpmax_joint=5194;gnomADv4_1_AN_joint=152320;gnomADv4_1_AN_joint_XX=77848;gnomADv4_1_AN_joint_XY=74472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70628;gnomADv4_1_nhomalt_joint_XX=36025;gnomADv4_1_nhomalt_joint_XY=34603;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28371298 chr22_28371298_G_A G A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.233;CADD_Rawscore=-0.387345;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-64655C>T|||||||rs5762574||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28371298G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-64655C>T|||||||rs5762574||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28371298G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-64655C>T|||||||rs5762574||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28371298G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-64655C>T|||||||rs5762574||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28371298G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-64655C>T|||||||rs5762574||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28371298G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-64655C>T|||||||rs5762574||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28371298G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-64655C>T|||||||rs5762574||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28371298G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-64655C>T|||||||rs5762574||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28371298G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-64655C>T|||||||rs5762574||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28371298G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-64655C>T|||||||rs5762574||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28371298G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-64655C>T|||||||rs5762574||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28371298G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-64655C>T|||||||rs5762574||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28371298G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-64655C>T|||||||rs5762574||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28371298G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-17|44|50|49;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=147476;gnomADv4_1_AC_joint_XX=75499;gnomADv4_1_AC_joint_XY=71977;gnomADv4_1_AF_grpmax_joint=0.994626;gnomADv4_1_AF_joint=0.978736;gnomADv4_1_AF_joint_XX=0.978423;gnomADv4_1_AF_joint_XY=0.979066;gnomADv4_1_AN_grpmax_joint=5024;gnomADv4_1_AN_joint=150680;gnomADv4_1_AN_joint_XX=77164;gnomADv4_1_AN_joint_XY=73516;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72167;gnomADv4_1_nhomalt_joint_XX=36930;gnomADv4_1_nhomalt_joint_XY=35237;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 28371509 chr22_28371509_C_CAAAAA;chr22_28371509_C_CAAAAAAAAA C CAAAAA 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADDIndel_PHREDscore=0.757;CADDIndel_Rawscore=-0.089004;CSQ=AAAAA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-64871_382-64867dup|||||||rs1229801209||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28371525_28371529dup|||||||||||||,AAAAA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-64871_189-64867dup|||||||rs1229801209||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28371525_28371529dup|||||||||||||,AAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-64871_382-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28371525_28371529dup|||||||||||||,AAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-64871_382-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28371525_28371529dup|||||||||||||,AAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-64871_28-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28371525_28371529dup|||||||||||||,AAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-64871_28-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28371525_28371529dup|||||||||||||,AAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-64871_304-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28371525_28371529dup|||||||||||||,AAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-64871_382-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28371525_28371529dup|||||||||||||,AAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-64871_382-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28371525_28371529dup|||||||||||||,AAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-64871_382-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28371525_28371529dup|||||||||||||,AAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-64871_292-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28371525_28371529dup|||||||||||||,AAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-64871_304-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28371525_28371529dup|||||||||||||,AAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-64871_76-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28371525_28371529dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAAA,AAAAA,AAAAA,AAAAA,AAAAA,AAAAA,AAAAA,AAAAA,AAAAA,AAAAA,AAAAA,AAAAA,AAAAA;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=412;gnomADv4_1_AC_joint_XX=240;gnomADv4_1_AC_joint_XY=172;gnomADv4_1_AF_grpmax_joint=0.100409;gnomADv4_1_AF_joint=0.0676741;gnomADv4_1_AF_joint_XX=0.0679117;gnomADv4_1_AF_joint_XY=0.0673453;gnomADv4_1_AN_grpmax_joint=3426;gnomADv4_1_AN_joint=6088;gnomADv4_1_AN_joint_XX=3534;gnomADv4_1_AN_joint_XY=2554;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=88;gnomADv4_1_nhomalt_joint_XX=52;gnomADv4_1_nhomalt_joint_XY=36;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28371509 chr22_28371509_C_CAAAAA;chr22_28371509_C_CAAAAAAAAA C CAAAAAAAAA 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADDIndel_PHREDscore=0.708;CADDIndel_Rawscore=-0.106192;CSQ=AAAAAAAAA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-64875_382-64867dup|||||||rs1229801209||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28371521_28371529dup|||||||||||||,AAAAAAAAA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-64875_189-64867dup|||||||rs1229801209||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28371521_28371529dup|||||||||||||,AAAAAAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-64875_382-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28371521_28371529dup|||||||||||||,AAAAAAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-64875_382-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28371521_28371529dup|||||||||||||,AAAAAAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-64875_28-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28371521_28371529dup|||||||||||||,AAAAAAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-64875_28-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28371521_28371529dup|||||||||||||,AAAAAAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-64875_304-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28371521_28371529dup|||||||||||||,AAAAAAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-64875_382-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28371521_28371529dup|||||||||||||,AAAAAAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-64875_382-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28371521_28371529dup|||||||||||||,AAAAAAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-64875_382-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28371521_28371529dup|||||||||||||,AAAAAAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-64875_292-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28371521_28371529dup|||||||||||||,AAAAAAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-64875_304-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28371521_28371529dup|||||||||||||,AAAAAAAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-64875_76-64867dup|||||||rs1229801209||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28371521_28371529dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAAAAAAA,AAAAAAAAA,AAAAAAAAA,AAAAAAAAA,AAAAAAAAA,AAAAAAAAA,AAAAAAAAA,AAAAAAAAA,AAAAAAAAA,AAAAAAAAA,AAAAAAAAA,AAAAAAAAA,AAAAAAAAA;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2018;gnomADv4_1_AC_joint_XX=1200;gnomADv4_1_AC_joint_XY=818;gnomADv4_1_AF_grpmax_joint=0.430702;gnomADv4_1_AF_joint=0.331908;gnomADv4_1_AF_joint_XX=0.340522;gnomADv4_1_AF_joint_XY=0.320031;gnomADv4_1_AN_grpmax_joint=3420;gnomADv4_1_AN_joint=6080;gnomADv4_1_AN_joint_XX=3524;gnomADv4_1_AN_joint_XY=2556;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=737;gnomADv4_1_nhomalt_joint_XX=442;gnomADv4_1_nhomalt_joint_XY=295;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28371581 chr22_28371581_CAAAAAAAA_C;chr22_28371581_CAAAAAAA_C CAAAAAAAA C 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=19;CADDIndel_PHREDscore=1.058;CADDIndel_Rawscore=-0.003098;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-64946_382-64939del|||||||rs147727536||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||AAAAAAAA|AAAAAAAA||||chr22:g.28371591_28371598del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-64946_189-64939del|||||||rs147727536||-1||HGNC|HGNC:29179|5||||||||Ensembl||AAAAAAAA|AAAAAAAA||||chr22:g.28371591_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-64946_382-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||AAAAAAAA|AAAAAAAA||||chr22:g.28371591_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-64946_382-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||AAAAAAAA|AAAAAAAA||||chr22:g.28371591_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-64946_28-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||AAAAAAAA|AAAAAAAA||||chr22:g.28371591_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-64946_28-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||AAAAAAAA|AAAAAAAA||||chr22:g.28371591_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-64946_304-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||AAAAAAAA|AAAAAAAA||||chr22:g.28371591_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-64946_382-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||AAAAAAAA|AAAAAAAA||||chr22:g.28371591_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-64946_382-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||AAAAAAAA|AAAAAAAA||||chr22:g.28371591_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-64946_382-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||AAAAAAAA|AAAAAAAA||||chr22:g.28371591_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-64946_292-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||AAAAAAAA|AAAAAAAA||||chr22:g.28371591_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-64946_304-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||AAAAAAAA|AAAAAAAA||||chr22:g.28371591_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-64946_76-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||AAAAAAAA|AAAAAAAA||||chr22:g.28371591_28371598del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10210;gnomADv4_1_AC_joint_XX=6229;gnomADv4_1_AC_joint_XY=3981;gnomADv4_1_AF_grpmax_joint=0.6875;gnomADv4_1_AF_joint=0.316256;gnomADv4_1_AF_joint_XX=0.319994;gnomADv4_1_AF_joint_XY=0.310579;gnomADv4_1_AN_grpmax_joint=16;gnomADv4_1_AN_joint=32284;gnomADv4_1_AN_joint_XX=19466;gnomADv4_1_AN_joint_XY=12818;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2259;gnomADv4_1_nhomalt_joint_XX=1396;gnomADv4_1_nhomalt_joint_XY=863;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28371581 chr22_28371581_CAAAAAAAA_C;chr22_28371581_CAAAAAAA_C CAAAAAAA C 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=11;CADDIndel_PHREDscore=1.042;CADDIndel_Rawscore=-0.007145;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-64945_382-64939del|||||||rs147727536||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||AAAAAAA|AAAAAAA||||chr22:g.28371592_28371598del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-64945_189-64939del|||||||rs147727536||-1||HGNC|HGNC:29179|5||||||||Ensembl||AAAAAAA|AAAAAAA||||chr22:g.28371592_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-64945_382-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||AAAAAAA|AAAAAAA||||chr22:g.28371592_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-64945_382-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||AAAAAAA|AAAAAAA||||chr22:g.28371592_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-64945_28-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||AAAAAAA|AAAAAAA||||chr22:g.28371592_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-64945_28-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||AAAAAAA|AAAAAAA||||chr22:g.28371592_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-64945_304-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||AAAAAAA|AAAAAAA||||chr22:g.28371592_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-64945_382-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||AAAAAAA|AAAAAAA||||chr22:g.28371592_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-64945_382-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||AAAAAAA|AAAAAAA||||chr22:g.28371592_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-64945_382-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||AAAAAAA|AAAAAAA||||chr22:g.28371592_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-64945_292-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||AAAAAAA|AAAAAAA||||chr22:g.28371592_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-64945_304-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||AAAAAAA|AAAAAAA||||chr22:g.28371592_28371598del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-64945_76-64939del|||||||rs147727536||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||AAAAAAA|AAAAAAA||||chr22:g.28371592_28371598del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16542;gnomADv4_1_AC_joint_XX=9998;gnomADv4_1_AC_joint_XY=6544;gnomADv4_1_AF_grpmax_joint=0.532385;gnomADv4_1_AF_joint=0.508484;gnomADv4_1_AF_joint_XX=0.509426;gnomADv4_1_AF_joint_XY=0.507051;gnomADv4_1_AN_grpmax_joint=1266;gnomADv4_1_AN_joint=32532;gnomADv4_1_AN_joint_XX=19626;gnomADv4_1_AN_joint_XY=12906;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=5070;gnomADv4_1_nhomalt_joint_XX=3076;gnomADv4_1_nhomalt_joint_XY=1994;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28371598 chr22_28371598_A_ATTTTTTTTTTTTT A ATTTTTTTTTTTTT 17 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=17;CADDIndel_PHREDscore=1.68;CADDIndel_Rawscore=0.117868;CSQ=TTTTTTTTTTTTT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-64968_382-64956dup|||||||rs1409625873||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28371600_28371612dup|||||||||||||,TTTTTTTTTTTTT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-64968_189-64956dup|||||||rs1409625873||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28371600_28371612dup|||||||||||||,TTTTTTTTTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-64968_382-64956dup|||||||rs1409625873||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28371600_28371612dup|||||||||||||,TTTTTTTTTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-64968_382-64956dup|||||||rs1409625873||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28371600_28371612dup|||||||||||||,TTTTTTTTTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-64968_28-64956dup|||||||rs1409625873||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28371600_28371612dup|||||||||||||,TTTTTTTTTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-64968_28-64956dup|||||||rs1409625873||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28371600_28371612dup|||||||||||||,TTTTTTTTTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-64968_304-64956dup|||||||rs1409625873||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28371600_28371612dup|||||||||||||,TTTTTTTTTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-64968_382-64956dup|||||||rs1409625873||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28371600_28371612dup|||||||||||||,TTTTTTTTTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-64968_382-64956dup|||||||rs1409625873||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28371600_28371612dup|||||||||||||,TTTTTTTTTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-64968_382-64956dup|||||||rs1409625873||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28371600_28371612dup|||||||||||||,TTTTTTTTTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-64968_292-64956dup|||||||rs1409625873||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28371600_28371612dup|||||||||||||,TTTTTTTTTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-64968_304-64956dup|||||||rs1409625873||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28371600_28371612dup|||||||||||||,TTTTTTTTTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-64968_76-64956dup|||||||rs1409625873||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28371600_28371612dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTT;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8344;gnomADv4_1_AC_joint_XX=5010;gnomADv4_1_AC_joint_XY=3334;gnomADv4_1_AF_grpmax_joint=0.386943;gnomADv4_1_AF_joint=0.303154;gnomADv4_1_AF_joint_XX=0.303232;gnomADv4_1_AF_joint_XY=0.303036;gnomADv4_1_AN_grpmax_joint=628;gnomADv4_1_AN_joint=27524;gnomADv4_1_AN_joint_XX=16522;gnomADv4_1_AN_joint_XY=11002;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3348;gnomADv4_1_nhomalt_joint_XX=2016;gnomADv4_1_nhomalt_joint_XY=1332;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28371649 chr22_28371649_C_T C T 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=2.044;CADD_Rawscore=0.1697;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-65006G>A|||||||rs9306455||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28371649C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-65006G>A|||||||rs9306455||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28371649C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-65006G>A|||||||rs9306455||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28371649C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-65006G>A|||||||rs9306455||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28371649C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-65006G>A|||||||rs9306455||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28371649C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-65006G>A|||||||rs9306455||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28371649C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-65006G>A|||||||rs9306455||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28371649C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-65006G>A|||||||rs9306455||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28371649C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-65006G>A|||||||rs9306455||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28371649C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-65006G>A|||||||rs9306455||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28371649C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-65006G>A|||||||rs9306455||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28371649C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-65006G>A|||||||rs9306455||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28371649C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-65006G>A|||||||rs9306455||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28371649C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-21|-42|-21|0;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24250;gnomADv4_1_AC_joint_XX=13458;gnomADv4_1_AC_joint_XY=10792;gnomADv4_1_AF_grpmax_joint=0.439394;gnomADv4_1_AF_joint=0.239847;gnomADv4_1_AF_joint_XX=0.247526;gnomADv4_1_AF_joint_XY=0.230914;gnomADv4_1_AN_grpmax_joint=198;gnomADv4_1_AN_joint=101106;gnomADv4_1_AN_joint_XX=54370;gnomADv4_1_AN_joint_XY=46736;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3842;gnomADv4_1_nhomalt_joint_XX=2167;gnomADv4_1_nhomalt_joint_XY=1675;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28371706 chr22_28371706_C_T C T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.279;CADD_Rawscore=0.046323;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-65063G>A|||||||rs545295726||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28371706C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-65063G>A|||||||rs545295726||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28371706C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-65063G>A|||||||rs545295726||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28371706C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-65063G>A|||||||rs545295726||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28371706C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-65063G>A|||||||rs545295726||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28371706C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-65063G>A|||||||rs545295726||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28371706C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-65063G>A|||||||rs545295726||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28371706C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-65063G>A|||||||rs545295726||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28371706C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-65063G>A|||||||rs545295726||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28371706C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-65063G>A|||||||rs545295726||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28371706C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-65063G>A|||||||rs545295726||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28371706C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-65063G>A|||||||rs545295726||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28371706C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-65063G>A|||||||rs545295726||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28371706C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|6|30|-10|30;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=553;gnomADv4_1_AC_joint_XX=301;gnomADv4_1_AC_joint_XY=252;gnomADv4_1_AF_grpmax_joint=0.0176056;gnomADv4_1_AF_joint=0.00396126;gnomADv4_1_AF_joint_XX=0.00416632;gnomADv4_1_AF_joint_XY=0.00374131;gnomADv4_1_AN_grpmax_joint=284;gnomADv4_1_AN_joint=139602;gnomADv4_1_AN_joint_XX=72246;gnomADv4_1_AN_joint_XY=67356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5;gnomADv4_1_nhomalt_joint_XX=2;gnomADv4_1_nhomalt_joint_XY=3;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28371880 chr22_28371880_C_T C T 44 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.814;CADD_Rawscore=-0.070836;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-65237G>A|||||||rs134517||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28371880C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-65237G>A|||||||rs134517||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28371880C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-65237G>A|||||||rs134517||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28371880C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-65237G>A|||||||rs134517||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28371880C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-65237G>A|||||||rs134517||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28371880C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-65237G>A|||||||rs134517||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28371880C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-65237G>A|||||||rs134517||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28371880C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-65237G>A|||||||rs134517||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28371880C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-65237G>A|||||||rs134517||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28371880C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-65237G>A|||||||rs134517||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28371880C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-65237G>A|||||||rs134517||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28371880C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-65237G>A|||||||rs134517||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28371880C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-65237G>A|||||||rs134517||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28371880C>T|||||||||||||;SpliceAI=T|TTC28|0.02|0.00|0.00|0.00|-2|-13|-2|-13;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=145362;gnomADv4_1_AC_joint_XX=74654;gnomADv4_1_AC_joint_XY=70708;gnomADv4_1_AF_grpmax_joint=0.99463;gnomADv4_1_AF_joint=0.978315;gnomADv4_1_AF_joint_XX=0.978094;gnomADv4_1_AF_joint_XY=0.978549;gnomADv4_1_AN_grpmax_joint=5028;gnomADv4_1_AN_joint=148584;gnomADv4_1_AN_joint_XX=76326;gnomADv4_1_AN_joint_XY=72258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=71101;gnomADv4_1_nhomalt_joint_XX=36505;gnomADv4_1_nhomalt_joint_XY=34596;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28371881 chr22_28371881_CA_C CA C 47 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.475;CADDIndel_Rawscore=-0.206066;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-65239del|||||||rs55908260||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28371895del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-65239del|||||||rs55908260||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28371895del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-65239del|||||||rs55908260||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28371895del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-65239del|||||||rs55908260||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28371895del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-65239del|||||||rs55908260||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28371895del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-65239del|||||||rs55908260||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28371895del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-65239del|||||||rs55908260||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28371895del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-65239del|||||||rs55908260||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28371895del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-65239del|||||||rs55908260||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28371895del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-65239del|||||||rs55908260||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28371895del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-65239del|||||||rs55908260||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28371895del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-65239del|||||||rs55908260||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28371895del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-65239del|||||||rs55908260||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28371895del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-2|-14|-23|-25;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=135226;gnomADv4_1_AC_joint_XX=69363;gnomADv4_1_AC_joint_XY=65863;gnomADv4_1_AF_grpmax_joint=0.988787;gnomADv4_1_AF_joint=0.916948;gnomADv4_1_AF_joint_XX=0.914621;gnomADv4_1_AF_joint_XY=0.919412;gnomADv4_1_AN_grpmax_joint=4994;gnomADv4_1_AN_joint=147474;gnomADv4_1_AN_joint_XX=75838;gnomADv4_1_AN_joint_XY=71636;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=62078;gnomADv4_1_nhomalt_joint_XX=31740;gnomADv4_1_nhomalt_joint_XY=30338;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28371895 chr22_28371895_A_T A T 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.043;CADD_Rawscore=-0.839713;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-65252T>A|||||||rs134518||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28371895A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-65252T>A|||||||rs134518||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28371895A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-65252T>A|||||||rs134518||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28371895A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-65252T>A|||||||rs134518||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28371895A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-65252T>A|||||||rs134518||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28371895A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-65252T>A|||||||rs134518||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28371895A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-65252T>A|||||||rs134518||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28371895A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-65252T>A|||||||rs134518||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28371895A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-65252T>A|||||||rs134518||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28371895A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-65252T>A|||||||rs134518||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28371895A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-65252T>A|||||||rs134518||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28371895A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-65252T>A|||||||rs134518||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28371895A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-65252T>A|||||||rs134518||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28371895A>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|-28|24|40;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=145607;gnomADv4_1_AC_joint_XX=74609;gnomADv4_1_AC_joint_XY=70998;gnomADv4_1_AF_grpmax_joint=0.989231;gnomADv4_1_AF_joint=0.971983;gnomADv4_1_AF_joint_XX=0.971623;gnomADv4_1_AF_joint_XY=0.972362;gnomADv4_1_AN_grpmax_joint=4736;gnomADv4_1_AN_joint=149804;gnomADv4_1_AN_joint_XX=76788;gnomADv4_1_AN_joint_XY=73016;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=70767;gnomADv4_1_nhomalt_joint_XX=36245;gnomADv4_1_nhomalt_joint_XY=34522;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28372531 chr22_28372531_CT_C;chr22_28372531_CTT_C CT C 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=1.447;CADDIndel_Rawscore=0.078677;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-65889del|||||||rs11309698||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28372547del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-65889del|||||||rs11309698||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28372547del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-20|-1|-23|20;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42516;gnomADv4_1_AC_joint_XX=22065;gnomADv4_1_AC_joint_XY=20451;gnomADv4_1_AF_grpmax_joint=0.40493;gnomADv4_1_AF_joint=0.292234;gnomADv4_1_AF_joint_XX=0.293957;gnomADv4_1_AF_joint_XY=0.290398;gnomADv4_1_AN_grpmax_joint=284;gnomADv4_1_AN_joint=145486;gnomADv4_1_AN_joint_XX=75062;gnomADv4_1_AN_joint_XY=70424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6772;gnomADv4_1_nhomalt_joint_XX=3554;gnomADv4_1_nhomalt_joint_XY=3218;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28372531 chr22_28372531_CT_C;chr22_28372531_CTT_C CTT C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=1.423;CADDIndel_Rawscore=0.074354;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-65890_382-65889del|||||||rs11309698||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||TT|TT||||chr22:g.28372546_28372547del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-65890_189-65889del|||||||rs11309698||-1||HGNC|HGNC:29179|5||||||||Ensembl||TT|TT||||chr22:g.28372546_28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-65890_382-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||TT|TT||||chr22:g.28372546_28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-65890_382-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||TT|TT||||chr22:g.28372546_28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-65890_28-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||TT|TT||||chr22:g.28372546_28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-65890_28-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||TT|TT||||chr22:g.28372546_28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-65890_304-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||TT|TT||||chr22:g.28372546_28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-65890_382-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||TT|TT||||chr22:g.28372546_28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-65890_382-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||TT|TT||||chr22:g.28372546_28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-65890_382-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||TT|TT||||chr22:g.28372546_28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-65890_292-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||TT|TT||||chr22:g.28372546_28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-65890_304-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||TT|TT||||chr22:g.28372546_28372547del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-65890_76-65889del|||||||rs11309698||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||TT|TT||||chr22:g.28372546_28372547del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-20|-1|19|-23;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98648;gnomADv4_1_AC_joint_XX=50800;gnomADv4_1_AC_joint_XY=47848;gnomADv4_1_AF_grpmax_joint=0.813397;gnomADv4_1_AF_joint=0.6771;gnomADv4_1_AF_joint_XX=0.675837;gnomADv4_1_AF_joint_XY=0.678445;gnomADv4_1_AN_grpmax_joint=39576;gnomADv4_1_AN_joint=145692;gnomADv4_1_AN_joint_XX=75166;gnomADv4_1_AN_joint_XY=70526;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=33787;gnomADv4_1_nhomalt_joint_XX=17404;gnomADv4_1_nhomalt_joint_XY=16383;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28373184 chr22_28373184_C_T C T 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.191;CADD_Rawscore=-0.438919;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-66541G>A|||||||rs35313550||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28373184C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-66541G>A|||||||rs35313550||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28373184C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-66541G>A|||||||rs35313550||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28373184C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-66541G>A|||||||rs35313550||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28373184C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-66541G>A|||||||rs35313550||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28373184C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-66541G>A|||||||rs35313550||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28373184C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-66541G>A|||||||rs35313550||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28373184C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-66541G>A|||||||rs35313550||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28373184C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-66541G>A|||||||rs35313550||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28373184C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-66541G>A|||||||rs35313550||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28373184C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-66541G>A|||||||rs35313550||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28373184C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-66541G>A|||||||rs35313550||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28373184C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-66541G>A|||||||rs35313550||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28373184C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-45|-1|-6|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2620;gnomADv4_1_AC_joint_XX=1365;gnomADv4_1_AC_joint_XY=1255;gnomADv4_1_AF_grpmax_joint=0.0544218;gnomADv4_1_AF_joint=0.0172885;gnomADv4_1_AF_joint_XX=0.0176015;gnomADv4_1_AF_joint_XY=0.0169604;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151546;gnomADv4_1_AN_joint_XX=77550;gnomADv4_1_AN_joint_XY=73996;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=36;gnomADv4_1_nhomalt_joint_XX=19;gnomADv4_1_nhomalt_joint_XY=17;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28373819 chr22_28373819_A_AT A AT 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=5.439;CADDIndel_Rawscore=0.497687;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-67177_382-67176insA|||||||rs134519||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28373819_28373820insT|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-67177_189-67176insA|||||||rs134519||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28373819_28373820insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-67177_382-67176insA|||||||rs134519||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28373819_28373820insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-67177_382-67176insA|||||||rs134519||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28373819_28373820insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-67177_28-67176insA|||||||rs134519||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28373819_28373820insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-67177_28-67176insA|||||||rs134519||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28373819_28373820insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-67177_304-67176insA|||||||rs134519||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28373819_28373820insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-67177_382-67176insA|||||||rs134519||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28373819_28373820insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-67177_382-67176insA|||||||rs134519||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28373819_28373820insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-67177_382-67176insA|||||||rs134519||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28373819_28373820insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-67177_292-67176insA|||||||rs134519||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28373819_28373820insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-67177_304-67176insA|||||||rs134519||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28373819_28373820insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-67177_76-67176insA|||||||rs134519||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28373819_28373820insT|||||||||||||;SpliceAI=AT|TTC28|0.00|0.00|0.00|0.00|-24|-26|-14|-26;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149079;gnomADv4_1_AC_joint_XX=76155;gnomADv4_1_AC_joint_XY=72924;gnomADv4_1_AF_grpmax_joint=0.994605;gnomADv4_1_AF_joint=0.979237;gnomADv4_1_AF_joint_XX=0.978906;gnomADv4_1_AF_joint_XY=0.979582;gnomADv4_1_AN_grpmax_joint=5190;gnomADv4_1_AN_joint=152240;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72988;gnomADv4_1_nhomalt_joint_XX=37270;gnomADv4_1_nhomalt_joint_XY=35718;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28373821 chr22_28373821_G_A G A 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.642;CADD_Rawscore=0.111939;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-67178C>T|||||||rs134520||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28373821G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-67178C>T|||||||rs134520||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28373821G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-67178C>T|||||||rs134520||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28373821G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-67178C>T|||||||rs134520||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28373821G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-67178C>T|||||||rs134520||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28373821G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-67178C>T|||||||rs134520||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28373821G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-67178C>T|||||||rs134520||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28373821G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-67178C>T|||||||rs134520||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28373821G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-67178C>T|||||||rs134520||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28373821G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-67178C>T|||||||rs134520||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28373821G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-67178C>T|||||||rs134520||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28373821G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-67178C>T|||||||rs134520||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28373821G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-67178C>T|||||||rs134520||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28373821G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-28|29|2|-28;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149082;gnomADv4_1_AC_joint_XX=76155;gnomADv4_1_AC_joint_XY=72927;gnomADv4_1_AF_grpmax_joint=0.994605;gnomADv4_1_AF_joint=0.979231;gnomADv4_1_AF_joint_XX=0.978906;gnomADv4_1_AF_joint_XY=0.97957;gnomADv4_1_AN_grpmax_joint=5190;gnomADv4_1_AN_joint=152244;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72990;gnomADv4_1_nhomalt_joint_XX=37270;gnomADv4_1_nhomalt_joint_XY=35720;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28374067 chr22_28374067_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=21.1;CADD_Rawscore=3.01546;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-67424A>G|||||||rs134521||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28374067T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-67424A>G|||||||rs134521||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28374067T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-67424A>G|||||||rs134521||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28374067T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-67424A>G|||||||rs134521||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28374067T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-67424A>G|||||||rs134521||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28374067T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-67424A>G|||||||rs134521||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28374067T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-67424A>G|||||||rs134521||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28374067T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-67424A>G|||||||rs134521||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28374067T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-67424A>G|||||||rs134521||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28374067T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-67424A>G|||||||rs134521||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28374067T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-67424A>G|||||||rs134521||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28374067T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-67424A>G|||||||rs134521||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28374067T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-67424A>G|||||||rs134521||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28374067T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8SJ66|enhancer||||||||||rs134521|||||||||||||||||||||chr22:g.28374067T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-1|-10|-44|-8;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,ENSR22_8SJ66;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=148990;gnomADv4_1_AC_joint_XX=76121;gnomADv4_1_AC_joint_XY=72869;gnomADv4_1_AF_grpmax_joint=0.99459;gnomADv4_1_AF_joint=0.978202;gnomADv4_1_AF_joint_XX=0.977715;gnomADv4_1_AF_joint_XY=0.978712;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152310;gnomADv4_1_AN_joint_XX=77856;gnomADv4_1_AN_joint_XY=74454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72866;gnomADv4_1_nhomalt_joint_XX=37207;gnomADv4_1_nhomalt_joint_XY=35659;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28374594 chr22_28374594_G_C G C 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=4.812;CADD_Rawscore=0.438401;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-67951C>G|||||||rs134522||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28374594G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.189-67951C>G|||||||rs134522||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28374594G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-67951C>G|||||||rs134522||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28374594G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-67951C>G|||||||rs134522||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28374594G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.28-67951C>G|||||||rs134522||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28374594G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.28-67951C>G|||||||rs134522||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28374594G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-67951C>G|||||||rs134522||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28374594G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-67951C>G|||||||rs134522||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28374594G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-67951C>G|||||||rs134522||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28374594G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-67951C>G|||||||rs134522||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28374594G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-67951C>G|||||||rs134522||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28374594G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-67951C>G|||||||rs134522||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28374594G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-67951C>G|||||||rs134522||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28374594G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|3|23|1|-24;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66038;gnomADv4_1_AC_joint_XX=33538;gnomADv4_1_AC_joint_XY=32500;gnomADv4_1_AF_grpmax_joint=0.596631;gnomADv4_1_AF_joint=0.434541;gnomADv4_1_AF_joint_XX=0.43169;gnomADv4_1_AF_joint_XY=0.437522;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=151972;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14792;gnomADv4_1_nhomalt_joint_XX=7416;gnomADv4_1_nhomalt_joint_XY=7376;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28375905 chr22_28375905_T_C T C 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=4.682;CADD_Rawscore=0.426454;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-69262A>G|||||||rs134523||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28375905T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+66981A>G|||||||rs134523||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28375905T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-69262A>G|||||||rs134523||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28375905T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-69262A>G|||||||rs134523||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28375905T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+66981A>G|||||||rs134523||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28375905T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+66981A>G|||||||rs134523||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28375905T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-69262A>G|||||||rs134523||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28375905T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-69262A>G|||||||rs134523||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28375905T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-69262A>G|||||||rs134523||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28375905T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-69262A>G|||||||rs134523||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28375905T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-69262A>G|||||||rs134523||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28375905T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-69262A>G|||||||rs134523||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28375905T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-69262A>G|||||||rs134523||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28375905T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-43|-8|11|13;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151435;gnomADv4_1_AC_joint_XX=77373;gnomADv4_1_AC_joint_XY=74062;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.99402;gnomADv4_1_AF_joint_XX=0.994001;gnomADv4_1_AF_joint_XY=0.994041;gnomADv4_1_AN_grpmax_joint=5186;gnomADv4_1_AN_joint=152346;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74506;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=75268;gnomADv4_1_nhomalt_joint_XX=38456;gnomADv4_1_nhomalt_joint_XY=36812;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28376829 chr22_28376829_C_T C T 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.221;CADD_Rawscore=-0.400393;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-70186G>A|||||||rs1534884||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28376829C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+66057G>A|||||||rs1534884||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28376829C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-70186G>A|||||||rs1534884||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28376829C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-70186G>A|||||||rs1534884||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28376829C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+66057G>A|||||||rs1534884||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28376829C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+66057G>A|||||||rs1534884||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28376829C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-70186G>A|||||||rs1534884||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28376829C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-70186G>A|||||||rs1534884||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28376829C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-70186G>A|||||||rs1534884||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28376829C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-70186G>A|||||||rs1534884||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28376829C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-70186G>A|||||||rs1534884||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28376829C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-70186G>A|||||||rs1534884||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28376829C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-70186G>A|||||||rs1534884||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28376829C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-4|-50|-4|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21148;gnomADv4_1_AC_joint_XX=10552;gnomADv4_1_AC_joint_XY=10596;gnomADv4_1_AF_grpmax_joint=0.367596;gnomADv4_1_AF_joint=0.139024;gnomADv4_1_AF_joint_XX=0.135724;gnomADv4_1_AF_joint_XY=0.142473;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1830;gnomADv4_1_nhomalt_joint_XX=834;gnomADv4_1_nhomalt_joint_XY=996;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28377100 chr22_28377100_TA_T TA T 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=0.089;CADDIndel_Rawscore=-0.642773;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-70458del|||||||rs11295470||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28377107del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+65785del|||||||rs11295470||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28377107del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-70458del|||||||rs11295470||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28377107del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-70458del|||||||rs11295470||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28377107del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+65785del|||||||rs11295470||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28377107del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+65785del|||||||rs11295470||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28377107del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-70458del|||||||rs11295470||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28377107del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-70458del|||||||rs11295470||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28377107del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-70458del|||||||rs11295470||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28377107del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-70458del|||||||rs11295470||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28377107del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-70458del|||||||rs11295470||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28377107del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-70458del|||||||rs11295470||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28377107del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-70458del|||||||rs11295470||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28377107del|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|42|-7|-12|13;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=128913;gnomADv4_1_AC_joint_XX=65980;gnomADv4_1_AC_joint_XY=62933;gnomADv4_1_AF_grpmax_joint=0.991204;gnomADv4_1_AF_joint=0.859134;gnomADv4_1_AF_joint_XX=0.858712;gnomADv4_1_AF_joint_XY=0.859576;gnomADv4_1_AN_grpmax_joint=5116;gnomADv4_1_AN_joint=150050;gnomADv4_1_AN_joint_XX=76836;gnomADv4_1_AN_joint_XY=73214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=55579;gnomADv4_1_nhomalt_joint_XX=28454;gnomADv4_1_nhomalt_joint_XY=27125;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28377338 chr22_28377338_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.308;CADD_Rawscore=0.30331;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-70695G>A|||||||rs10427676||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28377338C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+65548G>A|||||||rs10427676||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28377338C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-70695G>A|||||||rs10427676||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28377338C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-70695G>A|||||||rs10427676||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28377338C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+65548G>A|||||||rs10427676||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28377338C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+65548G>A|||||||rs10427676||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28377338C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-70695G>A|||||||rs10427676||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28377338C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-70695G>A|||||||rs10427676||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28377338C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-70695G>A|||||||rs10427676||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28377338C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-70695G>A|||||||rs10427676||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28377338C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-70695G>A|||||||rs10427676||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28377338C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-70695G>A|||||||rs10427676||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28377338C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-70695G>A|||||||rs10427676||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28377338C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|1|-1|-8|16;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39449;gnomADv4_1_AC_joint_XX=20196;gnomADv4_1_AC_joint_XY=19253;gnomADv4_1_AF_grpmax_joint=0.387906;gnomADv4_1_AF_joint=0.263704;gnomADv4_1_AF_joint_XX=0.263174;gnomADv4_1_AF_joint_XY=0.264261;gnomADv4_1_AN_grpmax_joint=4746;gnomADv4_1_AN_joint=149596;gnomADv4_1_AN_joint_XX=76740;gnomADv4_1_AN_joint_XY=72856;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6486;gnomADv4_1_nhomalt_joint_XX=3326;gnomADv4_1_nhomalt_joint_XY=3160;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28377816 chr22_28377816_G_A G A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=6.306;CADD_Rawscore=0.584436;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-71173C>T|||||||rs134524||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28377816G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+65070C>T|||||||rs134524||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28377816G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-71173C>T|||||||rs134524||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28377816G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-71173C>T|||||||rs134524||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28377816G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+65070C>T|||||||rs134524||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28377816G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+65070C>T|||||||rs134524||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28377816G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-71173C>T|||||||rs134524||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28377816G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-71173C>T|||||||rs134524||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28377816G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-71173C>T|||||||rs134524||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28377816G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-71173C>T|||||||rs134524||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28377816G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-71173C>T|||||||rs134524||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28377816G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-71173C>T|||||||rs134524||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28377816G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-71173C>T|||||||rs134524||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28377816G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|31|-7|2|-11;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=130616;gnomADv4_1_AC_joint_XX=66764;gnomADv4_1_AC_joint_XY=63852;gnomADv4_1_AF_grpmax_joint=0.990374;gnomADv4_1_AF_joint=0.858604;gnomADv4_1_AF_joint_XX=0.858436;gnomADv4_1_AF_joint_XY=0.85878;gnomADv4_1_AN_grpmax_joint=5194;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56340;gnomADv4_1_nhomalt_joint_XX=28806;gnomADv4_1_nhomalt_joint_XY=27534;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28378345 chr22_28378345_C_CA C CA 13 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=13;CADDIndel_PHREDscore=1.999;CADDIndel_Rawscore=0.163745;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-71703dup|||||||rs134525||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28378363dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+64540dup|||||||rs134525||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28378363dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-71703dup|||||||rs134525||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28378363dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-71703dup|||||||rs134525||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28378363dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+64540dup|||||||rs134525||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28378363dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+64540dup|||||||rs134525||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28378363dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-71703dup|||||||rs134525||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28378363dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-71703dup|||||||rs134525||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28378363dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-71703dup|||||||rs134525||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28378363dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-71703dup|||||||rs134525||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28378363dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-71703dup|||||||rs134525||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28378363dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-71703dup|||||||rs134525||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28378363dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-71703dup|||||||rs134525||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28378363dup|||||||||||||;SpliceAI=CA|TTC28|0.00|0.00|0.00|0.00|2|-7|-27|1;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24134;gnomADv4_1_AC_joint_XX=12813;gnomADv4_1_AC_joint_XY=11321;gnomADv4_1_AF_grpmax_joint=0.374885;gnomADv4_1_AF_joint=0.319969;gnomADv4_1_AF_joint_XX=0.318605;gnomADv4_1_AF_joint_XY=0.321528;gnomADv4_1_AN_grpmax_joint=2182;gnomADv4_1_AN_joint=75426;gnomADv4_1_AN_joint_XX=40216;gnomADv4_1_AN_joint_XY=35210;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2593;gnomADv4_1_nhomalt_joint_XX=1363;gnomADv4_1_nhomalt_joint_XY=1230;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28378722 chr22_28378722_T_C T C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=4.176;CADD_Rawscore=0.380909;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-72079A>G|||||||rs134526||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28378722T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+64164A>G|||||||rs134526||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28378722T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-72079A>G|||||||rs134526||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28378722T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-72079A>G|||||||rs134526||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28378722T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+64164A>G|||||||rs134526||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28378722T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+64164A>G|||||||rs134526||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28378722T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-72079A>G|||||||rs134526||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28378722T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-72079A>G|||||||rs134526||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28378722T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-72079A>G|||||||rs134526||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28378722T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-72079A>G|||||||rs134526||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28378722T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-72079A>G|||||||rs134526||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28378722T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-72079A>G|||||||rs134526||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28378722T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-72079A>G|||||||rs134526||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28378722T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|12|17|-13|17;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37777;gnomADv4_1_AC_joint_XX=19532;gnomADv4_1_AC_joint_XY=18245;gnomADv4_1_AF_grpmax_joint=0.282397;gnomADv4_1_AF_joint=0.249868;gnomADv4_1_AF_joint_XX=0.252567;gnomADv4_1_AF_joint_XY=0.247041;gnomADv4_1_AN_grpmax_joint=41208;gnomADv4_1_AN_joint=151188;gnomADv4_1_AN_joint_XX=77334;gnomADv4_1_AN_joint_XY=73854;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4876;gnomADv4_1_nhomalt_joint_XX=2547;gnomADv4_1_nhomalt_joint_XY=2329;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28380003 chr22_28380003_A_G A G 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=2.569;CADD_Rawscore=0.231156;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-73360T>C|||||||rs134527||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28380003A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+62883T>C|||||||rs134527||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28380003A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-73360T>C|||||||rs134527||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28380003A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-73360T>C|||||||rs134527||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28380003A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+62883T>C|||||||rs134527||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28380003A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+62883T>C|||||||rs134527||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28380003A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-73360T>C|||||||rs134527||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28380003A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-73360T>C|||||||rs134527||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28380003A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-73360T>C|||||||rs134527||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28380003A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-73360T>C|||||||rs134527||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28380003A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-73360T>C|||||||rs134527||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28380003A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-73360T>C|||||||rs134527||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28380003A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-73360T>C|||||||rs134527||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28380003A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-25|-6|6|34;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81406;gnomADv4_1_AC_joint_XX=41453;gnomADv4_1_AC_joint_XY=39953;gnomADv4_1_AF_grpmax_joint=0.658098;gnomADv4_1_AF_joint=0.539914;gnomADv4_1_AF_joint_XX=0.537026;gnomADv4_1_AF_joint_XY=0.542943;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=150776;gnomADv4_1_AN_joint_XX=77190;gnomADv4_1_AN_joint_XY=73586;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=22579;gnomADv4_1_nhomalt_joint_XX=11431;gnomADv4_1_nhomalt_joint_XY=11148;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28384070 chr22_28384070_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.221;CADD_Rawscore=-0.401347;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-77427T>C|||||||rs134528||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28384070A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+58816T>C|||||||rs134528||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28384070A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-77427T>C|||||||rs134528||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28384070A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-77427T>C|||||||rs134528||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28384070A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+58816T>C|||||||rs134528||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28384070A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+58816T>C|||||||rs134528||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28384070A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-77427T>C|||||||rs134528||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28384070A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-77427T>C|||||||rs134528||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28384070A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-77427T>C|||||||rs134528||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28384070A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-77427T>C|||||||rs134528||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28384070A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-77427T>C|||||||rs134528||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28384070A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-77427T>C|||||||rs134528||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28384070A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-77427T>C|||||||rs134528||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28384070A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-45|-18|-45|23;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149117;gnomADv4_1_AC_joint_XX=76181;gnomADv4_1_AC_joint_XY=72936;gnomADv4_1_AF_grpmax_joint=0.994788;gnomADv4_1_AF_joint=0.979152;gnomADv4_1_AF_joint_XX=0.978788;gnomADv4_1_AF_joint_XY=0.979533;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152292;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73002;gnomADv4_1_nhomalt_joint_XX=37278;gnomADv4_1_nhomalt_joint_XY=35724;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28385139 chr22_28385139_CA_C CA C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=0.678;CADDIndel_Rawscore=-0.116935;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-78497del|||||||rs695792||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28385156del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+57746del|||||||rs695792||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28385156del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-78497del|||||||rs695792||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28385156del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-78497del|||||||rs695792||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28385156del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+57746del|||||||rs695792||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28385156del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+57746del|||||||rs695792||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28385156del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-78497del|||||||rs695792||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28385156del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-78497del|||||||rs695792||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28385156del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-78497del|||||||rs695792||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28385156del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-78497del|||||||rs695792||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28385156del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-78497del|||||||rs695792||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28385156del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-78497del|||||||rs695792||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28385156del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-78497del|||||||rs695792||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28385156del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-26|-7|22|-5;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=661;gnomADv4_1_AC_joint_XX=314;gnomADv4_1_AC_joint_XY=347;gnomADv4_1_AF_grpmax_joint=0.0205479;gnomADv4_1_AF_joint=0.00664616;gnomADv4_1_AF_joint_XX=0.00603753;gnomADv4_1_AF_joint_XY=0.00731327;gnomADv4_1_AN_grpmax_joint=146;gnomADv4_1_AN_joint=99456;gnomADv4_1_AN_joint_XX=52008;gnomADv4_1_AN_joint_XY=47448;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28385770 chr22_28385770_T_C T C 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=5.158;CADD_Rawscore=0.470749;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-79127A>G|||||||rs134529||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28385770T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+57116A>G|||||||rs134529||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28385770T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-79127A>G|||||||rs134529||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28385770T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-79127A>G|||||||rs134529||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28385770T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+57116A>G|||||||rs134529||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28385770T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+57116A>G|||||||rs134529||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28385770T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-79127A>G|||||||rs134529||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28385770T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-79127A>G|||||||rs134529||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28385770T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-79127A>G|||||||rs134529||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28385770T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-79127A>G|||||||rs134529||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28385770T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-79127A>G|||||||rs134529||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28385770T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-79127A>G|||||||rs134529||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28385770T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-79127A>G|||||||rs134529||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28385770T>C|||1||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-35|-2|-15|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64932;gnomADv4_1_AC_joint_XX=33316;gnomADv4_1_AC_joint_XY=31616;gnomADv4_1_AF_grpmax_joint=0.599498;gnomADv4_1_AF_joint=0.427465;gnomADv4_1_AF_joint_XX=0.429064;gnomADv4_1_AF_joint_XY=0.425793;gnomADv4_1_AN_grpmax_joint=41398;gnomADv4_1_AN_joint=151900;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=14863;gnomADv4_1_nhomalt_joint_XX=7649;gnomADv4_1_nhomalt_joint_XY=7214;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28386199 chr22_28386199_C_T C T 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=14;CADD_PHREDscore=5.681;CADD_Rawscore=0.521327;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-79556G>A|||||||rs134530||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28386199C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+56687G>A|||||||rs134530||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28386199C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-79556G>A|||||||rs134530||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28386199C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-79556G>A|||||||rs134530||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28386199C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+56687G>A|||||||rs134530||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28386199C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+56687G>A|||||||rs134530||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28386199C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-79556G>A|||||||rs134530||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28386199C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-79556G>A|||||||rs134530||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28386199C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-79556G>A|||||||rs134530||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28386199C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-79556G>A|||||||rs134530||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28386199C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-79556G>A|||||||rs134530||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28386199C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-79556G>A|||||||rs134530||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28386199C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-79556G>A|||||||rs134530||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28386199C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|48|-50|-1|48;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43654;gnomADv4_1_AC_joint_XX=22577;gnomADv4_1_AC_joint_XY=21077;gnomADv4_1_AF_grpmax_joint=0.390228;gnomADv4_1_AF_joint=0.31265;gnomADv4_1_AF_joint_XX=0.311132;gnomADv4_1_AF_joint_XY=0.314291;gnomADv4_1_AN_grpmax_joint=13692;gnomADv4_1_AN_joint=139626;gnomADv4_1_AN_joint_XX=72564;gnomADv4_1_AN_joint_XY=67062;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=6823;gnomADv4_1_nhomalt_joint_XX=3524;gnomADv4_1_nhomalt_joint_XY=3299;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28387057 chr22_28387057_T_A T A 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.079;CADD_Rawscore=0.1742;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-80414A>T|||||||rs5762586||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28387057T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+55829A>T|||||||rs5762586||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28387057T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-80414A>T|||||||rs5762586||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28387057T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-80414A>T|||||||rs5762586||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28387057T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+55829A>T|||||||rs5762586||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28387057T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+55829A>T|||||||rs5762586||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28387057T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-80414A>T|||||||rs5762586||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28387057T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-80414A>T|||||||rs5762586||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28387057T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-80414A>T|||||||rs5762586||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28387057T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-80414A>T|||||||rs5762586||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28387057T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-80414A>T|||||||rs5762586||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28387057T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-80414A>T|||||||rs5762586||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28387057T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-80414A>T|||||||rs5762586||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28387057T>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-10|14|15|-40;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69750;gnomADv4_1_AC_joint_XX=35377;gnomADv4_1_AC_joint_XY=34373;gnomADv4_1_AF_grpmax_joint=0.655223;gnomADv4_1_AF_joint=0.460999;gnomADv4_1_AF_joint_XX=0.456654;gnomADv4_1_AF_joint_XY=0.465557;gnomADv4_1_AN_grpmax_joint=4748;gnomADv4_1_AN_joint=151302;gnomADv4_1_AN_joint_XX=77470;gnomADv4_1_AN_joint_XY=73832;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=18513;gnomADv4_1_nhomalt_joint_XX=9351;gnomADv4_1_nhomalt_joint_XY=9162;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28387755 chr22_28387755_G_C G C 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=1.332;CADD_Rawscore=0.056909;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-81112C>G|||||||rs12163268||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28387755G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+55131C>G|||||||rs12163268||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28387755G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-81112C>G|||||||rs12163268||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28387755G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-81112C>G|||||||rs12163268||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28387755G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+55131C>G|||||||rs12163268||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28387755G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+55131C>G|||||||rs12163268||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28387755G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-81112C>G|||||||rs12163268||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28387755G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-81112C>G|||||||rs12163268||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28387755G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-81112C>G|||||||rs12163268||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28387755G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-81112C>G|||||||rs12163268||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28387755G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-81112C>G|||||||rs12163268||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28387755G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-81112C>G|||||||rs12163268||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28387755G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-81112C>G|||||||rs12163268||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28387755G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|50|-22|1|-9;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29650;gnomADv4_1_AC_joint_XX=14794;gnomADv4_1_AC_joint_XY=14856;gnomADv4_1_AF_grpmax_joint=0.379613;gnomADv4_1_AF_joint=0.194922;gnomADv4_1_AF_joint_XX=0.190272;gnomADv4_1_AF_joint_XY=0.199785;gnomADv4_1_AN_grpmax_joint=15284;gnomADv4_1_AN_joint=152112;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=3507;gnomADv4_1_nhomalt_joint_XX=1653;gnomADv4_1_nhomalt_joint_XY=1854;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28387957 chr22_28387957_C_A C A 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.216;CADD_Rawscore=0.03312;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-81314G>T|||||||rs139620382||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28387957C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+54929G>T|||||||rs139620382||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28387957C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-81314G>T|||||||rs139620382||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28387957C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-81314G>T|||||||rs139620382||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28387957C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+54929G>T|||||||rs139620382||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28387957C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+54929G>T|||||||rs139620382||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28387957C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-81314G>T|||||||rs139620382||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28387957C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-81314G>T|||||||rs139620382||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28387957C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-81314G>T|||||||rs139620382||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28387957C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-81314G>T|||||||rs139620382||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28387957C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-81314G>T|||||||rs139620382||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28387957C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-81314G>T|||||||rs139620382||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28387957C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-81314G>T|||||||rs139620382||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28387957C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-13|46|28|-39;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39689;gnomADv4_1_AC_joint_XX=20282;gnomADv4_1_AC_joint_XY=19407;gnomADv4_1_AF_grpmax_joint=0.386052;gnomADv4_1_AF_joint=0.26094;gnomADv4_1_AF_joint_XX=0.260875;gnomADv4_1_AF_joint_XY=0.261008;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6496;gnomADv4_1_nhomalt_joint_XX=3328;gnomADv4_1_nhomalt_joint_XY=3168;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28388087 chr22_28388087_G_T G T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.231;CADD_Rawscore=-0.389337;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-81444C>A|||||||rs149041077||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28388087G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+54799C>A|||||||rs149041077||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28388087G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-81444C>A|||||||rs149041077||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28388087G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-81444C>A|||||||rs149041077||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28388087G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+54799C>A|||||||rs149041077||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28388087G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+54799C>A|||||||rs149041077||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28388087G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-81444C>A|||||||rs149041077||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28388087G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-81444C>A|||||||rs149041077||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28388087G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-81444C>A|||||||rs149041077||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28388087G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-81444C>A|||||||rs149041077||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28388087G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-81444C>A|||||||rs149041077||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28388087G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-81444C>A|||||||rs149041077||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28388087G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-81444C>A|||||||rs149041077||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28388087G>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|29|-2|5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=133658;gnomADv4_1_AC_joint_XX=68343;gnomADv4_1_AC_joint_XY=65315;gnomADv4_1_AF_grpmax_joint=0.990934;gnomADv4_1_AF_joint=0.878185;gnomADv4_1_AF_joint_XX=0.878738;gnomADv4_1_AF_joint_XY=0.877607;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=58840;gnomADv4_1_nhomalt_joint_XX=30118;gnomADv4_1_nhomalt_joint_XY=28722;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28388325 chr22_28388325_C_T C T 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=27;CADD_PHREDscore=3.576;CADD_Rawscore=0.327519;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-81682G>A|||||||rs142730181||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28388325C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+54561G>A|||||||rs142730181||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28388325C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-81682G>A|||||||rs142730181||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28388325C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-81682G>A|||||||rs142730181||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28388325C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+54561G>A|||||||rs142730181||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28388325C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+54561G>A|||||||rs142730181||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28388325C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-81682G>A|||||||rs142730181||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28388325C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-81682G>A|||||||rs142730181||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28388325C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-81682G>A|||||||rs142730181||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28388325C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-81682G>A|||||||rs142730181||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28388325C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-81682G>A|||||||rs142730181||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28388325C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-81682G>A|||||||rs142730181||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28388325C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-81682G>A|||||||rs142730181||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28388325C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-11|48|-22|48;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10325;gnomADv4_1_AC_joint_XX=5070;gnomADv4_1_AC_joint_XY=5255;gnomADv4_1_AF_grpmax_joint=0.140435;gnomADv4_1_AF_joint=0.0678571;gnomADv4_1_AF_joint_XX=0.0651872;gnomADv4_1_AF_joint_XY=0.0706488;gnomADv4_1_AN_grpmax_joint=15274;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=513;gnomADv4_1_nhomalt_joint_XX=229;gnomADv4_1_nhomalt_joint_XY=284;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28389497 chr22_28389497_C_T C T 49 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.457;CADD_Rawscore=-0.215394;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-82854G>A|||||||rs134532||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28389497C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+53389G>A|||||||rs134532||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28389497C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-82854G>A|||||||rs134532||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28389497C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-82854G>A|||||||rs134532||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28389497C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+53389G>A|||||||rs134532||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28389497C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+53389G>A|||||||rs134532||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28389497C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-82854G>A|||||||rs134532||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28389497C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-82854G>A|||||||rs134532||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28389497C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-82854G>A|||||||rs134532||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28389497C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-82854G>A|||||||rs134532||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28389497C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-82854G>A|||||||rs134532||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28389497C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-82854G>A|||||||rs134532||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28389497C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-82854G>A|||||||rs134532||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28389497C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-4|-1|-26|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=122932;gnomADv4_1_AC_joint_XX=63653;gnomADv4_1_AC_joint_XY=59279;gnomADv4_1_AF_grpmax_joint=0.989992;gnomADv4_1_AF_joint=0.872985;gnomADv4_1_AF_joint_XX=0.874402;gnomADv4_1_AF_joint_XY=0.871468;gnomADv4_1_AN_grpmax_joint=4796;gnomADv4_1_AN_joint=140818;gnomADv4_1_AN_joint_XX=72796;gnomADv4_1_AN_joint_XY=68022;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=53825;gnomADv4_1_nhomalt_joint_XX=27925;gnomADv4_1_nhomalt_joint_XY=25900;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28389711 chr22_28389711_C_T C T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=4.668;CADD_Rawscore=0.425211;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-83068G>A|||||||rs134533||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28389711C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+53175G>A|||||||rs134533||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28389711C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-83068G>A|||||||rs134533||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28389711C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-83068G>A|||||||rs134533||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28389711C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+53175G>A|||||||rs134533||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28389711C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+53175G>A|||||||rs134533||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28389711C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-83068G>A|||||||rs134533||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28389711C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-83068G>A|||||||rs134533||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28389711C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-83068G>A|||||||rs134533||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28389711C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-83068G>A|||||||rs134533||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28389711C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-83068G>A|||||||rs134533||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28389711C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-83068G>A|||||||rs134533||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28389711C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-83068G>A|||||||rs134533||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28389711C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-43|49|-2|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=126137;gnomADv4_1_AC_joint_XX=64894;gnomADv4_1_AC_joint_XY=61243;gnomADv4_1_AF_grpmax_joint=0.989976;gnomADv4_1_AF_joint=0.85963;gnomADv4_1_AF_joint_XX=0.859888;gnomADv4_1_AF_joint_XY=0.859358;gnomADv4_1_AN_grpmax_joint=4988;gnomADv4_1_AN_joint=146734;gnomADv4_1_AN_joint_XX=75468;gnomADv4_1_AN_joint_XY=71266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=54450;gnomADv4_1_nhomalt_joint_XX=28039;gnomADv4_1_nhomalt_joint_XY=26411;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28390052 chr22_28390052_T_C T C 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=3.117;CADD_Rawscore=0.285538;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-83409A>G|||||||rs79713675||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28390052T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+52834A>G|||||||rs79713675||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28390052T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-83409A>G|||||||rs79713675||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28390052T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-83409A>G|||||||rs79713675||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28390052T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+52834A>G|||||||rs79713675||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28390052T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+52834A>G|||||||rs79713675||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28390052T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-83409A>G|||||||rs79713675||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28390052T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-83409A>G|||||||rs79713675||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28390052T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-83409A>G|||||||rs79713675||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28390052T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-83409A>G|||||||rs79713675||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28390052T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-83409A>G|||||||rs79713675||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28390052T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-83409A>G|||||||rs79713675||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28390052T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-83409A>G|||||||rs79713675||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28390052T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-9|-2|50|-48;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82563;gnomADv4_1_AC_joint_XX=42238;gnomADv4_1_AC_joint_XY=40325;gnomADv4_1_AF_grpmax_joint=0.685485;gnomADv4_1_AF_joint=0.554047;gnomADv4_1_AF_joint_XX=0.552304;gnomADv4_1_AF_joint_XY=0.555885;gnomADv4_1_AN_grpmax_joint=40688;gnomADv4_1_AN_joint=149018;gnomADv4_1_AN_joint_XX=76476;gnomADv4_1_AN_joint_XY=72542;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23735;gnomADv4_1_nhomalt_joint_XX=12096;gnomADv4_1_nhomalt_joint_XY=11639;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28390283 chr22_28390283_C_T C T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.299;CADD_Rawscore=-0.323305;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-83640G>A|||||||rs134535||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28390283C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+52603G>A|||||||rs134535||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28390283C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-83640G>A|||||||rs134535||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28390283C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-83640G>A|||||||rs134535||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28390283C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+52603G>A|||||||rs134535||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28390283C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+52603G>A|||||||rs134535||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28390283C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-83640G>A|||||||rs134535||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28390283C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-83640G>A|||||||rs134535||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28390283C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-83640G>A|||||||rs134535||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28390283C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-83640G>A|||||||rs134535||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28390283C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-83640G>A|||||||rs134535||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28390283C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-83640G>A|||||||rs134535||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28390283C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-83640G>A|||||||rs134535||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28390283C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|28|15|29|-47;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149396;gnomADv4_1_AC_joint_XX=76355;gnomADv4_1_AC_joint_XY=73041;gnomADv4_1_AF_grpmax_joint=0.994942;gnomADv4_1_AF_joint=0.981861;gnomADv4_1_AF_joint_XX=0.981679;gnomADv4_1_AF_joint_XY=0.982051;gnomADv4_1_AN_grpmax_joint=41518;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=73348;gnomADv4_1_nhomalt_joint_XX=37477;gnomADv4_1_nhomalt_joint_XY=35871;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28391812 chr22_28391812_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.216;CADD_Rawscore=0.294813;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-85169A>G|||||||rs134536||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28391812T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+51074A>G|||||||rs134536||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28391812T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-85169A>G|||||||rs134536||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28391812T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-85169A>G|||||||rs134536||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28391812T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+51074A>G|||||||rs134536||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28391812T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+51074A>G|||||||rs134536||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28391812T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-85169A>G|||||||rs134536||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28391812T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-85169A>G|||||||rs134536||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28391812T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-85169A>G|||||||rs134536||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28391812T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-85169A>G|||||||rs134536||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28391812T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-85169A>G|||||||rs134536||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28391812T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-85169A>G|||||||rs134536||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28391812T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-85169A>G|||||||rs134536||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28391812T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-1|-12|-36|29;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=148904;gnomADv4_1_AC_joint_XX=76087;gnomADv4_1_AC_joint_XY=72817;gnomADv4_1_AF_grpmax_joint=0.994763;gnomADv4_1_AF_joint=0.981013;gnomADv4_1_AF_joint_XX=0.980882;gnomADv4_1_AF_joint_XY=0.98115;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151786;gnomADv4_1_AN_joint_XX=77570;gnomADv4_1_AN_joint_XY=74216;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73040;gnomADv4_1_nhomalt_joint_XX=37313;gnomADv4_1_nhomalt_joint_XY=35727;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28391871 chr22_28391871_T_C T C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=3.875;CADD_Rawscore=0.354119;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-85228A>G|||||||rs553399856||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28391871T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+51015A>G|||||||rs553399856||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28391871T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-85228A>G|||||||rs553399856||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28391871T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-85228A>G|||||||rs553399856||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28391871T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+51015A>G|||||||rs553399856||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28391871T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+51015A>G|||||||rs553399856||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28391871T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-85228A>G|||||||rs553399856||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28391871T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-85228A>G|||||||rs553399856||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28391871T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-85228A>G|||||||rs553399856||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28391871T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-85228A>G|||||||rs553399856||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28391871T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-85228A>G|||||||rs553399856||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28391871T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-85228A>G|||||||rs553399856||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28391871T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-85228A>G|||||||rs553399856||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28391871T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|25|17|-33|-22;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5125;gnomADv4_1_AC_joint_XX=2754;gnomADv4_1_AC_joint_XY=2371;gnomADv4_1_AF_grpmax_joint=0.0680272;gnomADv4_1_AF_joint=0.0336432;gnomADv4_1_AF_joint_XX=0.0353821;gnomADv4_1_AF_joint_XY=0.0318264;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152334;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74498;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=118;gnomADv4_1_nhomalt_joint_XX=71;gnomADv4_1_nhomalt_joint_XY=47;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28391873 chr22_28391873_C_T C T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=2.675;CADD_Rawscore=0.242223;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-85230G>A|||||||rs134537||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28391873C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+51013G>A|||||||rs134537||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28391873C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-85230G>A|||||||rs134537||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28391873C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-85230G>A|||||||rs134537||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28391873C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+51013G>A|||||||rs134537||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28391873C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+51013G>A|||||||rs134537||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28391873C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-85230G>A|||||||rs134537||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28391873C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-85230G>A|||||||rs134537||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28391873C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-85230G>A|||||||rs134537||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28391873C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-85230G>A|||||||rs134537||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28391873C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-85230G>A|||||||rs134537||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28391873C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-85230G>A|||||||rs134537||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28391873C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-85230G>A|||||||rs134537||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28391873C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|23|-1|23;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=148126;gnomADv4_1_AC_joint_XX=75729;gnomADv4_1_AC_joint_XY=72397;gnomADv4_1_AF_grpmax_joint=0.993784;gnomADv4_1_AF_joint=0.979838;gnomADv4_1_AF_joint_XX=0.979753;gnomADv4_1_AF_joint_XY=0.979927;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=151174;gnomADv4_1_AN_joint_XX=77294;gnomADv4_1_AN_joint_XY=73880;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72570;gnomADv4_1_nhomalt_joint_XX=37094;gnomADv4_1_nhomalt_joint_XY=35476;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28391959 chr22_28391959_C_T C T 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=3.671;CADD_Rawscore=0.336021;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-85316G>A|||||||rs134538||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28391959C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+50927G>A|||||||rs134538||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28391959C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-85316G>A|||||||rs134538||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28391959C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-85316G>A|||||||rs134538||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28391959C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+50927G>A|||||||rs134538||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28391959C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+50927G>A|||||||rs134538||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28391959C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-85316G>A|||||||rs134538||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28391959C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-85316G>A|||||||rs134538||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28391959C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-85316G>A|||||||rs134538||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28391959C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-85316G>A|||||||rs134538||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28391959C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-85316G>A|||||||rs134538||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28391959C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-85316G>A|||||||rs134538||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28391959C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-85316G>A|||||||rs134538||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28391959C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|28|-42|-1|22;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52723;gnomADv4_1_AC_joint_XX=27126;gnomADv4_1_AC_joint_XY=25597;gnomADv4_1_AF_grpmax_joint=0.520797;gnomADv4_1_AF_joint=0.347681;gnomADv4_1_AF_joint_XX=0.349814;gnomADv4_1_AF_joint_XY=0.345448;gnomADv4_1_AN_grpmax_joint=41208;gnomADv4_1_AN_joint=151642;gnomADv4_1_AN_joint_XX=77544;gnomADv4_1_AN_joint_XY=74098;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10084;gnomADv4_1_nhomalt_joint_XX=5289;gnomADv4_1_nhomalt_joint_XY=4795;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28392870 chr22_28392870_C_CTTT;chr22_28392870_C_CTT C CTTT 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=19;CADDIndel_PHREDscore=0.978;CADDIndel_Rawscore=-0.02363;CSQ=TTT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-86230_382-86228dup|||||||rs1245558034||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28392891_28392893dup|||||||||||||,TTT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+50013_188+50015dup|||||||rs1245558034||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28392891_28392893dup|||||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-86230_382-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28392891_28392893dup|||||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-86230_382-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28392891_28392893dup|||||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+50013_27+50015dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28392891_28392893dup|||||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+50013_27+50015dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28392891_28392893dup|||||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-86230_304-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28392891_28392893dup|||||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-86230_382-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28392891_28392893dup|||||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-86230_382-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28392891_28392893dup|||||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-86230_382-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28392891_28392893dup|||||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-86230_292-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28392891_28392893dup|||||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-86230_304-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28392891_28392893dup|||||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-86230_76-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28392891_28392893dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27332;gnomADv4_1_AC_joint_XX=15664;gnomADv4_1_AC_joint_XY=11668;gnomADv4_1_AF_grpmax_joint=0.36698;gnomADv4_1_AF_joint=0.338787;gnomADv4_1_AF_joint_XX=0.345479;gnomADv4_1_AF_joint_XY=0.330201;gnomADv4_1_AN_grpmax_joint=46384;gnomADv4_1_AN_joint=80676;gnomADv4_1_AN_joint_XX=45340;gnomADv4_1_AN_joint_XY=35336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6033;gnomADv4_1_nhomalt_joint_XX=3458;gnomADv4_1_nhomalt_joint_XY=2575;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28392870 chr22_28392870_C_CTTT;chr22_28392870_C_CTT C CTT 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=16;CADDIndel_PHREDscore=0.988;CADDIndel_Rawscore=-0.020972;CSQ=TT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-86229_382-86228dup|||||||rs1245558034||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28392892_28392893dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+50014_188+50015dup|||||||rs1245558034||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28392892_28392893dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-86229_382-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28392892_28392893dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-86229_382-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28392892_28392893dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+50014_27+50015dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28392892_28392893dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+50014_27+50015dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28392892_28392893dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-86229_304-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28392892_28392893dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-86229_382-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28392892_28392893dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-86229_382-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28392892_28392893dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-86229_382-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28392892_28392893dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-86229_292-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28392892_28392893dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-86229_304-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28392892_28392893dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-86229_76-86228dup|||||||rs1245558034||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28392892_28392893dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45298;gnomADv4_1_AC_joint_XX=25178;gnomADv4_1_AC_joint_XY=20120;gnomADv4_1_AF_grpmax_joint=0.722222;gnomADv4_1_AF_joint=0.561467;gnomADv4_1_AF_joint_XX=0.555266;gnomADv4_1_AF_joint_XY=0.569423;gnomADv4_1_AN_grpmax_joint=1962;gnomADv4_1_AN_joint=80678;gnomADv4_1_AN_joint_XX=45344;gnomADv4_1_AN_joint_XY=35334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=14378;gnomADv4_1_nhomalt_joint_XX=7881;gnomADv4_1_nhomalt_joint_XY=6497;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28393128 chr22_28393128_C_T C T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.091;CADD_Rawscore=0.17568;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-86485G>A|||||||rs149100362||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28393128C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+49758G>A|||||||rs149100362||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28393128C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-86485G>A|||||||rs149100362||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28393128C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-86485G>A|||||||rs149100362||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28393128C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+49758G>A|||||||rs149100362||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28393128C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+49758G>A|||||||rs149100362||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28393128C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-86485G>A|||||||rs149100362||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28393128C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-86485G>A|||||||rs149100362||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28393128C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-86485G>A|||||||rs149100362||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28393128C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-86485G>A|||||||rs149100362||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28393128C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-86485G>A|||||||rs149100362||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28393128C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-86485G>A|||||||rs149100362||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28393128C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-86485G>A|||||||rs149100362||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28393128C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|20|4|-46;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=970;gnomADv4_1_AC_joint_XX=525;gnomADv4_1_AC_joint_XY=445;gnomADv4_1_AF_grpmax_joint=0.047619;gnomADv4_1_AF_joint=0.00637562;gnomADv4_1_AF_joint_XX=0.00675224;gnomADv4_1_AF_joint_XY=0.00598199;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=10;gnomADv4_1_nhomalt_joint_XX=8;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28393399 chr22_28393399_G_A G A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=8.196;CADD_Rawscore=0.790314;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-86756C>T|||||||rs2179063||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28393399G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+49487C>T|||||||rs2179063||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28393399G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-86756C>T|||||||rs2179063||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28393399G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-86756C>T|||||||rs2179063||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28393399G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+49487C>T|||||||rs2179063||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28393399G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+49487C>T|||||||rs2179063||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28393399G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-86756C>T|||||||rs2179063||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28393399G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-86756C>T|||||||rs2179063||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28393399G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-86756C>T|||||||rs2179063||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28393399G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-86756C>T|||||||rs2179063||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28393399G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-86756C>T|||||||rs2179063||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28393399G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-86756C>T|||||||rs2179063||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28393399G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-86756C>T|||||||rs2179063||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28393399G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-28|32|14|33;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151382;gnomADv4_1_AC_joint_XX=77361;gnomADv4_1_AC_joint_XY=74021;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.993972;gnomADv4_1_AF_joint_XX=0.993949;gnomADv4_1_AF_joint_XY=0.993997;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152300;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=75238;gnomADv4_1_nhomalt_joint_XX=38448;gnomADv4_1_nhomalt_joint_XY=36790;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28393841 chr22_28393841_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=10.14;CADD_Rawscore=0.983256;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-87198T>C|||||||rs134539||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28393841A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+49045T>C|||||||rs134539||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28393841A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-87198T>C|||||||rs134539||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28393841A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-87198T>C|||||||rs134539||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28393841A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+49045T>C|||||||rs134539||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28393841A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+49045T>C|||||||rs134539||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28393841A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-87198T>C|||||||rs134539||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28393841A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-87198T>C|||||||rs134539||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28393841A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-87198T>C|||||||rs134539||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28393841A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-87198T>C|||||||rs134539||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28393841A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-87198T>C|||||||rs134539||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28393841A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-87198T>C|||||||rs134539||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28393841A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-87198T>C|||||||rs134539||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28393841A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|46|-37|-40|27;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151441;gnomADv4_1_AC_joint_XX=77386;gnomADv4_1_AC_joint_XY=74055;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.993994;gnomADv4_1_AF_joint_XX=0.993989;gnomADv4_1_AF_joint_XY=0.994;gnomADv4_1_AN_grpmax_joint=5186;gnomADv4_1_AN_joint=152356;gnomADv4_1_AN_joint_XX=77854;gnomADv4_1_AN_joint_XY=74502;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=75269;gnomADv4_1_nhomalt_joint_XX=38462;gnomADv4_1_nhomalt_joint_XY=36807;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28395634 chr22_28395635_CA_C;chr22_28395634_AC_A AC A 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=28;CADDIndel_PHREDscore=0.176;CADDIndel_Rawscore=-0.461081;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-88992del|||||||rs66900694||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28395635del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+47251del|||||||rs66900694||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28395635del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-88992del|||||||rs66900694||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28395635del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-88992del|||||||rs66900694||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28395635del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+47251del|||||||rs66900694||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28395635del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+47251del|||||||rs66900694||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28395635del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-88992del|||||||rs66900694||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28395635del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-88992del|||||||rs66900694||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28395635del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-88992del|||||||rs66900694||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28395635del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-88992del|||||||rs66900694||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28395635del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-88992del|||||||rs66900694||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28395635del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-88992del|||||||rs66900694||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28395635del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-88992del|||||||rs66900694||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28395635del|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-23|-47|8|26;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61470;gnomADv4_1_AC_joint_XX=32114;gnomADv4_1_AC_joint_XY=29356;gnomADv4_1_AF_grpmax_joint=0.688482;gnomADv4_1_AF_joint=0.592139;gnomADv4_1_AF_joint_XX=0.592881;gnomADv4_1_AF_joint_XY=0.59133;gnomADv4_1_AN_grpmax_joint=35372;gnomADv4_1_AN_joint=103810;gnomADv4_1_AN_joint_XX=54166;gnomADv4_1_AN_joint_XY=49644;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=14785;gnomADv4_1_nhomalt_joint_XX=7779;gnomADv4_1_nhomalt_joint_XY=7006;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28395635 chr22_28395635_CA_C;chr22_28395634_AC_A CA C 49 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.217;CADDIndel_Rawscore=-0.40598;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-88993del|||||||rs66868492||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28395648del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+47250del|||||||rs66868492||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28395648del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-88993del|||||||rs66868492||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28395648del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-88993del|||||||rs66868492||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28395648del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+47250del|||||||rs66868492||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28395648del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+47250del|||||||rs66868492||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28395648del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-88993del|||||||rs66868492||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28395648del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-88993del|||||||rs66868492||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28395648del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-88993del|||||||rs66868492||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28395648del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-88993del|||||||rs66868492||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28395648del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-88993del|||||||rs66868492||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28395648del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-88993del|||||||rs66868492||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28395648del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-88993del|||||||rs66868492||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28395648del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-24|-48|2|25;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66803;gnomADv4_1_AC_joint_XX=34210;gnomADv4_1_AC_joint_XY=32593;gnomADv4_1_AF_grpmax_joint=0.744027;gnomADv4_1_AF_joint=0.668164;gnomADv4_1_AF_joint_XX=0.665746;gnomADv4_1_AF_joint_XY=0.670721;gnomADv4_1_AN_grpmax_joint=4102;gnomADv4_1_AN_joint=99980;gnomADv4_1_AN_joint_XX=51386;gnomADv4_1_AN_joint_XY=48594;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=18079;gnomADv4_1_nhomalt_joint_XX=9179;gnomADv4_1_nhomalt_joint_XY=8900;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28395640 chr22_28395640_A_C A C 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.627;CADD_Rawscore=-0.136642;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-88997T>G|||||||rs200531429||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28395640A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+47246T>G|||||||rs200531429||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28395640A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-88997T>G|||||||rs200531429||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28395640A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-88997T>G|||||||rs200531429||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28395640A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+47246T>G|||||||rs200531429||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28395640A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+47246T>G|||||||rs200531429||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28395640A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-88997T>G|||||||rs200531429||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28395640A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-88997T>G|||||||rs200531429||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28395640A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-88997T>G|||||||rs200531429||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28395640A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-88997T>G|||||||rs200531429||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28395640A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-88997T>G|||||||rs200531429||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28395640A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-88997T>G|||||||rs200531429||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28395640A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-88997T>G|||||||rs200531429||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28395640A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|12|-29|20|-4;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28150;gnomADv4_1_AC_joint_XX=14051;gnomADv4_1_AC_joint_XY=14099;gnomADv4_1_AF_grpmax_joint=0.379427;gnomADv4_1_AF_joint=0.186577;gnomADv4_1_AF_joint_XX=0.181824;gnomADv4_1_AF_joint_XY=0.191568;gnomADv4_1_AN_grpmax_joint=15020;gnomADv4_1_AN_joint=150876;gnomADv4_1_AN_joint_XX=77278;gnomADv4_1_AN_joint_XY=73598;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=3433;gnomADv4_1_nhomalt_joint_XX=1608;gnomADv4_1_nhomalt_joint_XY=1825;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28399092 chr22_28399092_T_C T C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=10.49;CADD_Rawscore=1.01352;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-92449A>G|||||||rs2346395||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28399092T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+43794A>G|||||||rs2346395||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28399092T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-92449A>G|||||||rs2346395||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28399092T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-92449A>G|||||||rs2346395||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28399092T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+43794A>G|||||||rs2346395||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28399092T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+43794A>G|||||||rs2346395||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28399092T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-92449A>G|||||||rs2346395||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28399092T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-92449A>G|||||||rs2346395||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28399092T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-92449A>G|||||||rs2346395||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28399092T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-92449A>G|||||||rs2346395||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28399092T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-92449A>G|||||||rs2346395||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28399092T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-92449A>G|||||||rs2346395||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28399092T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-92449A>G|||||||rs2346395||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28399092T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-7|-2|1|21;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27424;gnomADv4_1_AC_joint_XX=14238;gnomADv4_1_AC_joint_XY=13186;gnomADv4_1_AF_grpmax_joint=0.260673;gnomADv4_1_AF_joint=0.18111;gnomADv4_1_AF_joint_XX=0.183858;gnomADv4_1_AF_joint_XY=0.178233;gnomADv4_1_AN_grpmax_joint=67832;gnomADv4_1_AN_joint=151422;gnomADv4_1_AN_joint_XX=77440;gnomADv4_1_AN_joint_XY=73982;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3197;gnomADv4_1_nhomalt_joint_XX=1665;gnomADv4_1_nhomalt_joint_XY=1532;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28399275 chr22_28399275_G_A G A 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=11.14;CADD_Rawscore=1.07495;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-92632C>T|||||||rs134541||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28399275G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+43611C>T|||||||rs134541||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28399275G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-92632C>T|||||||rs134541||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28399275G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-92632C>T|||||||rs134541||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28399275G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+43611C>T|||||||rs134541||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28399275G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+43611C>T|||||||rs134541||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28399275G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-92632C>T|||||||rs134541||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28399275G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-92632C>T|||||||rs134541||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28399275G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-92632C>T|||||||rs134541||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28399275G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-92632C>T|||||||rs134541||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28399275G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-92632C>T|||||||rs134541||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28399275G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-92632C>T|||||||rs134541||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28399275G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-92632C>T|||||||rs134541||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28399275G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-5|2|2|-32;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32785;gnomADv4_1_AC_joint_XX=17038;gnomADv4_1_AC_joint_XY=15747;gnomADv4_1_AF_grpmax_joint=0.247675;gnomADv4_1_AF_joint=0.219189;gnomADv4_1_AF_joint_XX=0.221624;gnomADv4_1_AF_joint_XY=0.216614;gnomADv4_1_AN_grpmax_joint=67754;gnomADv4_1_AN_joint=149574;gnomADv4_1_AN_joint_XX=76878;gnomADv4_1_AN_joint_XY=72696;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3783;gnomADv4_1_nhomalt_joint_XX=2015;gnomADv4_1_nhomalt_joint_XY=1768;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28399316 chr22_28399316_T_C T C 49 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=4.783;CADD_Rawscore=0.435745;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-92673A>G|||||||rs134542||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28399316T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+43570A>G|||||||rs134542||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28399316T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-92673A>G|||||||rs134542||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28399316T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-92673A>G|||||||rs134542||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28399316T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+43570A>G|||||||rs134542||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28399316T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+43570A>G|||||||rs134542||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28399316T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-92673A>G|||||||rs134542||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28399316T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-92673A>G|||||||rs134542||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28399316T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-92673A>G|||||||rs134542||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28399316T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-92673A>G|||||||rs134542||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28399316T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-92673A>G|||||||rs134542||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28399316T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-92673A>G|||||||rs134542||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28399316T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-92673A>G|||||||rs134542||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28399316T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|46|-2|0|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=130989;gnomADv4_1_AC_joint_XX=67895;gnomADv4_1_AC_joint_XY=63094;gnomADv4_1_AF_grpmax_joint=0.98401;gnomADv4_1_AF_joint=0.925743;gnomADv4_1_AF_joint_XX=0.922938;gnomADv4_1_AF_joint_XY=0.928782;gnomADv4_1_AN_grpmax_joint=4878;gnomADv4_1_AN_joint=141496;gnomADv4_1_AN_joint_XX=73564;gnomADv4_1_AN_joint_XY=67932;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=60640;gnomADv4_1_nhomalt_joint_XX=31319;gnomADv4_1_nhomalt_joint_XY=29321;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28399317 chr22_28399317_G_GT G GT 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=29;CADDIndel_PHREDscore=1.087;CADDIndel_Rawscore=0.003862;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-92675dup|||||||rs695621||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28399336dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+43568dup|||||||rs695621||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28399336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-92675dup|||||||rs695621||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28399336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-92675dup|||||||rs695621||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28399336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+43568dup|||||||rs695621||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28399336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+43568dup|||||||rs695621||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28399336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-92675dup|||||||rs695621||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28399336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-92675dup|||||||rs695621||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28399336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-92675dup|||||||rs695621||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28399336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-92675dup|||||||rs695621||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28399336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-92675dup|||||||rs695621||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28399336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-92675dup|||||||rs695621||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28399336dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-92675dup|||||||rs695621||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28399336dup|||||||||||||;SpliceAI=GT|TTC28|0.00|0.00|0.00|0.00|-40|45|10|41;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27682;gnomADv4_1_AC_joint_XX=15053;gnomADv4_1_AC_joint_XY=12629;gnomADv4_1_AF_grpmax_joint=0.327425;gnomADv4_1_AF_joint=0.227125;gnomADv4_1_AF_joint_XX=0.232551;gnomADv4_1_AF_joint_XY=0.22098;gnomADv4_1_AN_grpmax_joint=4062;gnomADv4_1_AN_joint=121880;gnomADv4_1_AN_joint_XX=64730;gnomADv4_1_AN_joint_XY=57150;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4584;gnomADv4_1_nhomalt_joint_XX=2435;gnomADv4_1_nhomalt_joint_XY=2149;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28401330 chr22_28401330_C_T C T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=4.469;CADD_Rawscore=0.407123;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-94687G>A|||||||rs134543||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28401330C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+41556G>A|||||||rs134543||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28401330C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-94687G>A|||||||rs134543||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28401330C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-94687G>A|||||||rs134543||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28401330C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+41556G>A|||||||rs134543||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28401330C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+41556G>A|||||||rs134543||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28401330C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-94687G>A|||||||rs134543||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28401330C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-94687G>A|||||||rs134543||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28401330C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-94687G>A|||||||rs134543||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28401330C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-94687G>A|||||||rs134543||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28401330C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-94687G>A|||||||rs134543||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28401330C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-94687G>A|||||||rs134543||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28401330C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-94687G>A|||||||rs134543||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28401330C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-33|1|-35|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32476;gnomADv4_1_AC_joint_XX=16698;gnomADv4_1_AC_joint_XY=15778;gnomADv4_1_AF_grpmax_joint=0.244819;gnomADv4_1_AF_joint=0.213714;gnomADv4_1_AF_joint_XX=0.214986;gnomADv4_1_AF_joint_XY=0.212384;gnomADv4_1_AN_grpmax_joint=67936;gnomADv4_1_AN_joint=151960;gnomADv4_1_AN_joint_XX=77670;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3713;gnomADv4_1_nhomalt_joint_XX=1944;gnomADv4_1_nhomalt_joint_XY=1769;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28402691 chr22_28402691_C_G C G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.333;CADD_Rawscore=0.057159;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-96048G>C|||||||rs134544||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28402691C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+40195G>C|||||||rs134544||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28402691C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-96048G>C|||||||rs134544||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28402691C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-96048G>C|||||||rs134544||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28402691C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+40195G>C|||||||rs134544||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28402691C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+40195G>C|||||||rs134544||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28402691C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-96048G>C|||||||rs134544||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28402691C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-96048G>C|||||||rs134544||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28402691C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-96048G>C|||||||rs134544||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28402691C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-96048G>C|||||||rs134544||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28402691C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-96048G>C|||||||rs134544||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28402691C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-96048G>C|||||||rs134544||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28402691C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-96048G>C|||||||rs134544||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28402691C>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|42|1|-46|1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=83908;gnomADv4_1_AC_joint_XX=42699;gnomADv4_1_AC_joint_XY=41209;gnomADv4_1_AF_grpmax_joint=0.74102;gnomADv4_1_AF_joint=0.551772;gnomADv4_1_AF_joint_XX=0.549113;gnomADv4_1_AF_joint_XY=0.554555;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23848;gnomADv4_1_nhomalt_joint_XX=12092;gnomADv4_1_nhomalt_joint_XY=11756;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28403092 chr22_28403092_T_C T C 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=5.572;CADD_Rawscore=0.510564;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-96449A>G|||||||rs134545||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28403092T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+39794A>G|||||||rs134545||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28403092T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-96449A>G|||||||rs134545||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28403092T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-96449A>G|||||||rs134545||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28403092T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+39794A>G|||||||rs134545||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28403092T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+39794A>G|||||||rs134545||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28403092T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-96449A>G|||||||rs134545||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28403092T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-96449A>G|||||||rs134545||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28403092T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-96449A>G|||||||rs134545||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28403092T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-96449A>G|||||||rs134545||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28403092T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-96449A>G|||||||rs134545||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28403092T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-96449A>G|||||||rs134545||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28403092T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-96449A>G|||||||rs134545||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28403092T>C|||1||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|12|-37|-49|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62324;gnomADv4_1_AC_joint_XX=31993;gnomADv4_1_AC_joint_XY=30331;gnomADv4_1_AF_grpmax_joint=0.560082;gnomADv4_1_AF_joint=0.41001;gnomADv4_1_AF_joint_XX=0.411878;gnomADv4_1_AF_joint_XY=0.408059;gnomADv4_1_AN_grpmax_joint=41460;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=13549;gnomADv4_1_nhomalt_joint_XX=6972;gnomADv4_1_nhomalt_joint_XY=6577;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28403448 chr22_28403448_G_A G A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.378;CADD_Rawscore=-0.26345;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-96805C>T|||||||rs7288416||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28403448G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+39438C>T|||||||rs7288416||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28403448G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-96805C>T|||||||rs7288416||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28403448G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-96805C>T|||||||rs7288416||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28403448G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+39438C>T|||||||rs7288416||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28403448G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+39438C>T|||||||rs7288416||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28403448G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-96805C>T|||||||rs7288416||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28403448G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-96805C>T|||||||rs7288416||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28403448G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-96805C>T|||||||rs7288416||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28403448G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-96805C>T|||||||rs7288416||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28403448G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-96805C>T|||||||rs7288416||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28403448G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-96805C>T|||||||rs7288416||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28403448G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-96805C>T|||||||rs7288416||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28403448G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-48|28|2|4;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40755;gnomADv4_1_AC_joint_XX=20886;gnomADv4_1_AC_joint_XY=19869;gnomADv4_1_AF_grpmax_joint=0.389929;gnomADv4_1_AF_joint=0.267977;gnomADv4_1_AF_joint_XX=0.268644;gnomADv4_1_AF_joint_XY=0.267279;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6829;gnomADv4_1_nhomalt_joint_XX=3527;gnomADv4_1_nhomalt_joint_XY=3302;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28404354 chr22_28404354_A_G A G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=3.004;CADD_Rawscore=0.274858;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-97711T>C|||||||rs5762604||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28404354A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+38532T>C|||||||rs5762604||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28404354A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-97711T>C|||||||rs5762604||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28404354A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-97711T>C|||||||rs5762604||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28404354A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+38532T>C|||||||rs5762604||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28404354A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+38532T>C|||||||rs5762604||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28404354A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-97711T>C|||||||rs5762604||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28404354A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-97711T>C|||||||rs5762604||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28404354A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-97711T>C|||||||rs5762604||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28404354A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-97711T>C|||||||rs5762604||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28404354A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-97711T>C|||||||rs5762604||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28404354A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-97711T>C|||||||rs5762604||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28404354A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-97711T>C|||||||rs5762604||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28404354A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|37|-48|-35|-36;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41178;gnomADv4_1_AC_joint_XX=21129;gnomADv4_1_AC_joint_XY=20049;gnomADv4_1_AF_grpmax_joint=0.40411;gnomADv4_1_AF_joint=0.270897;gnomADv4_1_AF_joint_XX=0.271833;gnomADv4_1_AF_joint_XY=0.269918;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6978;gnomADv4_1_nhomalt_joint_XX=3612;gnomADv4_1_nhomalt_joint_XY=3366;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28404989 chr22_28404989_GT_G GT G 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=1.212;CADDIndel_Rawscore=0.03213;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-98347del|||||||rs134546||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28404991del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+37896del|||||||rs134546||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28404991del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-98347del|||||||rs134546||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28404991del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-98347del|||||||rs134546||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28404991del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+37896del|||||||rs134546||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28404991del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+37896del|||||||rs134546||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28404991del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-98347del|||||||rs134546||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28404991del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-98347del|||||||rs134546||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28404991del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-98347del|||||||rs134546||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28404991del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-98347del|||||||rs134546||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28404991del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-98347del|||||||rs134546||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28404991del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-98347del|||||||rs134546||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28404991del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-98347del|||||||rs134546||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28404991del|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-48|-17|-12|-15;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32076;gnomADv4_1_AC_joint_XX=16509;gnomADv4_1_AC_joint_XY=15567;gnomADv4_1_AF_grpmax_joint=0.242361;gnomADv4_1_AF_joint=0.211057;gnomADv4_1_AF_joint_XX=0.2124;gnomADv4_1_AF_joint_XY=0.209651;gnomADv4_1_AN_grpmax_joint=67944;gnomADv4_1_AN_joint=151978;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3624;gnomADv4_1_nhomalt_joint_XX=1903;gnomADv4_1_nhomalt_joint_XY=1721;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28405021 chr22_28405021_G_A G A 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=8.27;CADD_Rawscore=0.798341;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-98378C>T|||||||rs134547||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28405021G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+37865C>T|||||||rs134547||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28405021G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-98378C>T|||||||rs134547||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28405021G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-98378C>T|||||||rs134547||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28405021G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+37865C>T|||||||rs134547||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28405021G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+37865C>T|||||||rs134547||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28405021G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-98378C>T|||||||rs134547||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28405021G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-98378C>T|||||||rs134547||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28405021G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-98378C>T|||||||rs134547||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28405021G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-98378C>T|||||||rs134547||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28405021G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-98378C>T|||||||rs134547||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28405021G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-98378C>T|||||||rs134547||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28405021G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-98378C>T|||||||rs134547||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28405021G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|30|-49|30|32;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=131010;gnomADv4_1_AC_joint_XX=66927;gnomADv4_1_AC_joint_XY=64083;gnomADv4_1_AF_grpmax_joint=0.992852;gnomADv4_1_AF_joint=0.861036;gnomADv4_1_AF_joint_XX=0.860576;gnomADv4_1_AF_joint_XY=0.861516;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56660;gnomADv4_1_nhomalt_joint_XX=28952;gnomADv4_1_nhomalt_joint_XY=27708;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28406490 chr22_28406490_G_A G A 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=9.941;CADD_Rawscore=0.966525;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-99847C>T|||||||rs134548||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28406490G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+36396C>T|||||||rs134548||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28406490G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-99847C>T|||||||rs134548||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28406490G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-99847C>T|||||||rs134548||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28406490G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+36396C>T|||||||rs134548||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28406490G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+36396C>T|||||||rs134548||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28406490G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-99847C>T|||||||rs134548||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28406490G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-99847C>T|||||||rs134548||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28406490G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-99847C>T|||||||rs134548||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28406490G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-99847C>T|||||||rs134548||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28406490G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-99847C>T|||||||rs134548||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28406490G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-99847C>T|||||||rs134548||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28406490G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-99847C>T|||||||rs134548||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28406490G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-10|34|-16|-13;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37653;gnomADv4_1_AC_joint_XX=19454;gnomADv4_1_AC_joint_XY=18199;gnomADv4_1_AF_grpmax_joint=0.283423;gnomADv4_1_AF_joint=0.247629;gnomADv4_1_AF_joint_XX=0.250315;gnomADv4_1_AF_joint_XY=0.244821;gnomADv4_1_AN_grpmax_joint=41454;gnomADv4_1_AN_joint=152054;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4865;gnomADv4_1_nhomalt_joint_XX=2561;gnomADv4_1_nhomalt_joint_XY=2304;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28407403 chr22_28407403_T_C T C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=4.998;CADD_Rawscore=0.455665;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-100760A>G|||||||rs17503350||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28407403T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+35483A>G|||||||rs17503350||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28407403T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-100760A>G|||||||rs17503350||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28407403T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-100760A>G|||||||rs17503350||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28407403T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+35483A>G|||||||rs17503350||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28407403T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+35483A>G|||||||rs17503350||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28407403T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-100760A>G|||||||rs17503350||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28407403T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-100760A>G|||||||rs17503350||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28407403T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-100760A>G|||||||rs17503350||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28407403T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-100760A>G|||||||rs17503350||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28407403T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-100760A>G|||||||rs17503350||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28407403T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-100760A>G|||||||rs17503350||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28407403T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-100760A>G|||||||rs17503350||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28407403T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-12|-2|47|2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26981;gnomADv4_1_AC_joint_XX=13970;gnomADv4_1_AC_joint_XY=13011;gnomADv4_1_AF_grpmax_joint=0.234889;gnomADv4_1_AF_joint=0.17743;gnomADv4_1_AF_joint_XX=0.179706;gnomADv4_1_AF_joint_XY=0.175048;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2845;gnomADv4_1_nhomalt_joint_XX=1526;gnomADv4_1_nhomalt_joint_XY=1319;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28409928 chr22_28409928_GT_G GT G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=0.618;CADDIndel_Rawscore=-0.140027;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-103286del|||||||rs134549||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28409939del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+32957del|||||||rs134549||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28409939del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-103286del|||||||rs134549||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28409939del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-103286del|||||||rs134549||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28409939del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+32957del|||||||rs134549||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28409939del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+32957del|||||||rs134549||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28409939del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-103286del|||||||rs134549||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28409939del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-103286del|||||||rs134549||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28409939del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-103286del|||||||rs134549||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28409939del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-103286del|||||||rs134549||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28409939del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-103286del|||||||rs134549||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28409939del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-103286del|||||||rs134549||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28409939del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-103286del|||||||rs134549||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28409939del|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-3|-18|-39|35;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=142994;gnomADv4_1_AC_joint_XX=73499;gnomADv4_1_AC_joint_XY=69495;gnomADv4_1_AF_grpmax_joint=0.982786;gnomADv4_1_AF_joint=0.973437;gnomADv4_1_AF_joint_XX=0.974013;gnomADv4_1_AF_joint_XY=0.972829;gnomADv4_1_AN_grpmax_joint=39910;gnomADv4_1_AN_joint=146896;gnomADv4_1_AN_joint_XX=75460;gnomADv4_1_AN_joint_XY=71436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=69593;gnomADv4_1_nhomalt_joint_XX=35786;gnomADv4_1_nhomalt_joint_XY=33807;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28411010 chr22_28411010_G_GAAAATGAAA G GAAAATGAAA 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=1.049;CADDIndel_Rawscore=-0.005421;CSQ=AAAATGAAA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-104376_382-104368dup|||||||rs134550||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28411015_28411023dup|||||||||||||,AAAATGAAA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+31867_188+31875dup|||||||rs134550||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28411015_28411023dup|||||||||||||,AAAATGAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-104376_382-104368dup|||||||rs134550||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28411015_28411023dup|||||||||||||,AAAATGAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-104376_382-104368dup|||||||rs134550||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28411015_28411023dup|||||||||||||,AAAATGAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+31867_27+31875dup|||||||rs134550||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28411015_28411023dup|||||||||||||,AAAATGAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+31867_27+31875dup|||||||rs134550||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28411015_28411023dup|||||||||||||,AAAATGAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-104376_304-104368dup|||||||rs134550||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28411015_28411023dup|||||||||||||,AAAATGAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-104376_382-104368dup|||||||rs134550||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28411015_28411023dup|||||||||||||,AAAATGAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-104376_382-104368dup|||||||rs134550||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28411015_28411023dup|||||||||||||,AAAATGAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-104376_382-104368dup|||||||rs134550||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28411015_28411023dup|||||||||||||,AAAATGAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-104376_292-104368dup|||||||rs134550||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28411015_28411023dup|||||||||||||,AAAATGAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-104376_304-104368dup|||||||rs134550||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28411015_28411023dup|||||||||||||,AAAATGAAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-104376_76-104368dup|||||||rs134550||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28411015_28411023dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAATGAAA,AAAATGAAA,AAAATGAAA,AAAATGAAA,AAAATGAAA,AAAATGAAA,AAAATGAAA,AAAATGAAA,AAAATGAAA,AAAATGAAA,AAAATGAAA,AAAATGAAA,AAAATGAAA;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=148649;gnomADv4_1_AC_joint_XX=75988;gnomADv4_1_AC_joint_XY=72661;gnomADv4_1_AF_grpmax_joint=0.99438;gnomADv4_1_AF_joint=0.979346;gnomADv4_1_AF_joint_XX=0.979;gnomADv4_1_AF_joint_XY=0.979708;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151784;gnomADv4_1_AN_joint_XX=77618;gnomADv4_1_AN_joint_XY=74166;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72785;gnomADv4_1_nhomalt_joint_XX=37190;gnomADv4_1_nhomalt_joint_XY=35595;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28411637 chr22_28411637_C_T C T 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.298;CADD_Rawscore=-0.323976;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-104994G>A|||||||rs134551||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28411637C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+31249G>A|||||||rs134551||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28411637C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-104994G>A|||||||rs134551||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28411637C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-104994G>A|||||||rs134551||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28411637C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+31249G>A|||||||rs134551||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28411637C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+31249G>A|||||||rs134551||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28411637C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-104994G>A|||||||rs134551||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28411637C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-104994G>A|||||||rs134551||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28411637C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-104994G>A|||||||rs134551||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28411637C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-104994G>A|||||||rs134551||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28411637C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-104994G>A|||||||rs134551||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28411637C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-104994G>A|||||||rs134551||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28411637C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-104994G>A|||||||rs134551||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28411637C>T|||1||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-29|41|7|-14;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46694;gnomADv4_1_AC_joint_XX=24002;gnomADv4_1_AC_joint_XY=22692;gnomADv4_1_AF_grpmax_joint=0.367094;gnomADv4_1_AF_joint=0.307125;gnomADv4_1_AF_joint_XX=0.308747;gnomADv4_1_AF_joint_XY=0.305427;gnomADv4_1_AN_grpmax_joint=15274;gnomADv4_1_AN_joint=152036;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=7353;gnomADv4_1_nhomalt_joint_XX=3775;gnomADv4_1_nhomalt_joint_XY=3578;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28413294 chr22_28413294_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.796;CADD_Rawscore=-0.076311;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-106651A>G|||||||rs134552||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28413294T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+29592A>G|||||||rs134552||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28413294T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-106651A>G|||||||rs134552||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28413294T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-106651A>G|||||||rs134552||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28413294T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+29592A>G|||||||rs134552||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28413294T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+29592A>G|||||||rs134552||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28413294T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-106651A>G|||||||rs134552||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28413294T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-106651A>G|||||||rs134552||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28413294T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-106651A>G|||||||rs134552||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28413294T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-106651A>G|||||||rs134552||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28413294T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-106651A>G|||||||rs134552||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28413294T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-106651A>G|||||||rs134552||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28413294T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-106651A>G|||||||rs134552||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28413294T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-30|-25|5|-14;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149334;gnomADv4_1_AC_joint_XX=76332;gnomADv4_1_AC_joint_XY=73002;gnomADv4_1_AF_grpmax_joint=0.994384;gnomADv4_1_AF_joint=0.981828;gnomADv4_1_AF_joint_XX=0.981686;gnomADv4_1_AF_joint_XY=0.981975;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73312;gnomADv4_1_nhomalt_joint_XX=37465;gnomADv4_1_nhomalt_joint_XY=35847;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28413749 chr22_28413749_T_TA T TA 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=2.097;CADDIndel_Rawscore=0.17653;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-107107dup|||||||rs5844809||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28413757dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+29136dup|||||||rs5844809||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28413757dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-107107dup|||||||rs5844809||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28413757dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-107107dup|||||||rs5844809||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28413757dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+29136dup|||||||rs5844809||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28413757dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+29136dup|||||||rs5844809||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28413757dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-107107dup|||||||rs5844809||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28413757dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-107107dup|||||||rs5844809||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28413757dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-107107dup|||||||rs5844809||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28413757dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-107107dup|||||||rs5844809||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28413757dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-107107dup|||||||rs5844809||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28413757dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-107107dup|||||||rs5844809||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28413757dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-107107dup|||||||rs5844809||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28413757dup|||||||||||||;SpliceAI=TA|TTC28|0.00|0.00|0.00|0.00|39|25|22|18;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82226;gnomADv4_1_AC_joint_XX=41643;gnomADv4_1_AC_joint_XY=40583;gnomADv4_1_AF_grpmax_joint=0.702421;gnomADv4_1_AF_joint=0.542359;gnomADv4_1_AF_joint_XX=0.537066;gnomADv4_1_AF_joint_XY=0.547901;gnomADv4_1_AN_grpmax_joint=4792;gnomADv4_1_AN_joint=151608;gnomADv4_1_AN_joint_XX=77538;gnomADv4_1_AN_joint_XY=74070;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=23411;gnomADv4_1_nhomalt_joint_XX=11755;gnomADv4_1_nhomalt_joint_XY=11656;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28414510 chr22_28414510_A_AAGCATTCTG A AAGCATTCTG 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=8.968;CADDIndel_Rawscore=0.870564;CSQ=AGCATTCTG|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-107876_382-107868dup|||||||rs147309380||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28414512_28414520dup|||||||||||||,AGCATTCTG|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+28367_188+28375dup|||||||rs147309380||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28414512_28414520dup|||||||||||||,AGCATTCTG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-107876_382-107868dup|||||||rs147309380||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28414512_28414520dup|||||||||||||,AGCATTCTG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-107876_382-107868dup|||||||rs147309380||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28414512_28414520dup|||||||||||||,AGCATTCTG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+28367_27+28375dup|||||||rs147309380||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28414512_28414520dup|||||||||||||,AGCATTCTG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+28367_27+28375dup|||||||rs147309380||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28414512_28414520dup|||||||||||||,AGCATTCTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-107876_304-107868dup|||||||rs147309380||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28414512_28414520dup|||||||||||||,AGCATTCTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-107876_382-107868dup|||||||rs147309380||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28414512_28414520dup|||||||||||||,AGCATTCTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-107876_382-107868dup|||||||rs147309380||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28414512_28414520dup|||||||||||||,AGCATTCTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-107876_382-107868dup|||||||rs147309380||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28414512_28414520dup|||||||||||||,AGCATTCTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-107876_292-107868dup|||||||rs147309380||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28414512_28414520dup|||||||||||||,AGCATTCTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-107876_304-107868dup|||||||rs147309380||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28414512_28414520dup|||||||||||||,AGCATTCTG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-107876_76-107868dup|||||||rs147309380||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28414512_28414520dup|||||||||||||;TYPE=INDEL;VEP_Allele=AGCATTCTG,AGCATTCTG,AGCATTCTG,AGCATTCTG,AGCATTCTG,AGCATTCTG,AGCATTCTG,AGCATTCTG,AGCATTCTG,AGCATTCTG,AGCATTCTG,AGCATTCTG,AGCATTCTG;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22069;gnomADv4_1_AC_joint_XX=11086;gnomADv4_1_AC_joint_XY=10983;gnomADv4_1_AF_grpmax_joint=0.298833;gnomADv4_1_AF_joint=0.145111;gnomADv4_1_AF_joint_XX=0.142626;gnomADv4_1_AF_joint_XY=0.147708;gnomADv4_1_AN_grpmax_joint=15256;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1934;gnomADv4_1_nhomalt_joint_XX=939;gnomADv4_1_nhomalt_joint_XY=995;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28415341 chr22_28415341_C_T C T 59 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.636;CADD_Rawscore=0.110914;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-108698G>A|||||||rs695591||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28415341C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+27545G>A|||||||rs695591||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28415341C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-108698G>A|||||||rs695591||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28415341C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-108698G>A|||||||rs695591||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28415341C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+27545G>A|||||||rs695591||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28415341C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+27545G>A|||||||rs695591||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28415341C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-108698G>A|||||||rs695591||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28415341C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-108698G>A|||||||rs695591||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28415341C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-108698G>A|||||||rs695591||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28415341C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-108698G>A|||||||rs695591||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28415341C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-108698G>A|||||||rs695591||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28415341C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-108698G>A|||||||rs695591||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28415341C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-108698G>A|||||||rs695591||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28415341C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-30|-1|-2|30;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=113548;gnomADv4_1_AC_joint_XX=57789;gnomADv4_1_AC_joint_XY=55759;gnomADv4_1_AF_grpmax_joint=0.848837;gnomADv4_1_AF_joint=0.747764;gnomADv4_1_AF_joint_XX=0.744512;gnomADv4_1_AF_joint_XY=0.751165;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=151850;gnomADv4_1_AN_joint_XX=77620;gnomADv4_1_AN_joint_XY=74230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=42620;gnomADv4_1_nhomalt_joint_XX=21609;gnomADv4_1_nhomalt_joint_XY=21011;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28416657 chr22_28416657_TC_T TC T 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=13.75;CADDIndel_Rawscore=1.42808;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-110015del|||||||rs35752961||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28416658del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+26228del|||||||rs35752961||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28416658del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-110015del|||||||rs35752961||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28416658del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-110015del|||||||rs35752961||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28416658del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+26228del|||||||rs35752961||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28416658del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+26228del|||||||rs35752961||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28416658del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-110015del|||||||rs35752961||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28416658del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-110015del|||||||rs35752961||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28416658del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-110015del|||||||rs35752961||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28416658del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-110015del|||||||rs35752961||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28416658del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-110015del|||||||rs35752961||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28416658del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-110015del|||||||rs35752961||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28416658del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-110015del|||||||rs35752961||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28416658del|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|37|40|-43|31;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39688;gnomADv4_1_AC_joint_XX=20300;gnomADv4_1_AC_joint_XY=19388;gnomADv4_1_AF_grpmax_joint=0.383866;gnomADv4_1_AF_joint=0.260985;gnomADv4_1_AF_joint_XX=0.261093;gnomADv4_1_AF_joint_XY=0.260872;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6470;gnomADv4_1_nhomalt_joint_XX=3325;gnomADv4_1_nhomalt_joint_XY=3145;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28417477 chr22_28417477_C_A C A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.28;CADD_Rawscore=-0.339354;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-110834G>T|||||||rs9613609||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28417477C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+25409G>T|||||||rs9613609||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28417477C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-110834G>T|||||||rs9613609||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28417477C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-110834G>T|||||||rs9613609||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28417477C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+25409G>T|||||||rs9613609||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28417477C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+25409G>T|||||||rs9613609||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28417477C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-110834G>T|||||||rs9613609||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28417477C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-110834G>T|||||||rs9613609||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28417477C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-110834G>T|||||||rs9613609||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28417477C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-110834G>T|||||||rs9613609||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28417477C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-110834G>T|||||||rs9613609||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28417477C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-110834G>T|||||||rs9613609||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28417477C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-110834G>T|||||||rs9613609||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28417477C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-5|1|33|1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68258;gnomADv4_1_AC_joint_XX=35109;gnomADv4_1_AC_joint_XY=33149;gnomADv4_1_AF_grpmax_joint=0.526628;gnomADv4_1_AF_joint=0.451126;gnomADv4_1_AF_joint_XX=0.453534;gnomADv4_1_AF_joint_XY=0.448602;gnomADv4_1_AN_grpmax_joint=67824;gnomADv4_1_AN_joint=151306;gnomADv4_1_AN_joint_XX=77412;gnomADv4_1_AN_joint_XY=73894;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16066;gnomADv4_1_nhomalt_joint_XX=8316;gnomADv4_1_nhomalt_joint_XY=7750;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28418902 chr22_28418902_A_G A G 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.993;CADD_Rawscore=0.273851;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-112259T>C|||||||rs695625||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28418902A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+23984T>C|||||||rs695625||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28418902A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-112259T>C|||||||rs695625||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28418902A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-112259T>C|||||||rs695625||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28418902A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+23984T>C|||||||rs695625||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28418902A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+23984T>C|||||||rs695625||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28418902A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-112259T>C|||||||rs695625||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28418902A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-112259T>C|||||||rs695625||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28418902A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-112259T>C|||||||rs695625||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28418902A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-112259T>C|||||||rs695625||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28418902A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-112259T>C|||||||rs695625||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28418902A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-112259T>C|||||||rs695625||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28418902A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-112259T>C|||||||rs695625||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28418902A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|30|2|-19|27;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=114769;gnomADv4_1_AC_joint_XX=58450;gnomADv4_1_AC_joint_XY=56319;gnomADv4_1_AF_grpmax_joint=0.853027;gnomADv4_1_AF_joint=0.75487;gnomADv4_1_AF_joint_XX=0.752078;gnomADv4_1_AF_joint_XY=0.757791;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152038;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=43507;gnomADv4_1_nhomalt_joint_XX=22100;gnomADv4_1_nhomalt_joint_XY=21407;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28420565 chr22_28420565_CA_C CA C 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADDIndel_PHREDscore=0.22;CADDIndel_Rawscore=-0.402064;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-113923del|||||||rs4035770||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28420583del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+22320del|||||||rs4035770||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28420583del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-113923del|||||||rs4035770||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28420583del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-113923del|||||||rs4035770||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28420583del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+22320del|||||||rs4035770||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28420583del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+22320del|||||||rs4035770||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28420583del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-113923del|||||||rs4035770||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28420583del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-113923del|||||||rs4035770||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28420583del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-113923del|||||||rs4035770||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28420583del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-113923del|||||||rs4035770||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28420583del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-113923del|||||||rs4035770||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28420583del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-113923del|||||||rs4035770||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28420583del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-113923del|||||||rs4035770||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28420583del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|12|-11|11|10;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25529;gnomADv4_1_AC_joint_XX=13153;gnomADv4_1_AC_joint_XY=12376;gnomADv4_1_AF_grpmax_joint=0.379463;gnomADv4_1_AF_joint=0.260692;gnomADv4_1_AF_joint_XX=0.256915;gnomADv4_1_AF_joint_XY=0.264829;gnomADv4_1_AN_grpmax_joint=10196;gnomADv4_1_AN_joint=97928;gnomADv4_1_AN_joint_XX=51196;gnomADv4_1_AN_joint_XY=46732;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=2572;gnomADv4_1_nhomalt_joint_XX=1298;gnomADv4_1_nhomalt_joint_XY=1274;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28420732 chr22_28420732_A_T A T 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.974;CADD_Rawscore=-0.024747;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-114089T>A|||||||rs1807603||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28420732A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+22154T>A|||||||rs1807603||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28420732A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-114089T>A|||||||rs1807603||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28420732A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-114089T>A|||||||rs1807603||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28420732A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+22154T>A|||||||rs1807603||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28420732A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+22154T>A|||||||rs1807603||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28420732A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-114089T>A|||||||rs1807603||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28420732A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-114089T>A|||||||rs1807603||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28420732A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-114089T>A|||||||rs1807603||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28420732A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-114089T>A|||||||rs1807603||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28420732A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-114089T>A|||||||rs1807603||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28420732A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-114089T>A|||||||rs1807603||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28420732A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-114089T>A|||||||rs1807603||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28420732A>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|-17|-44|-50;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96854;gnomADv4_1_AC_joint_XX=49355;gnomADv4_1_AC_joint_XY=47499;gnomADv4_1_AF_grpmax_joint=0.782854;gnomADv4_1_AF_joint=0.638887;gnomADv4_1_AF_joint_XX=0.636313;gnomADv4_1_AF_joint_XY=0.641584;gnomADv4_1_AN_grpmax_joint=4794;gnomADv4_1_AN_joint=151598;gnomADv4_1_AN_joint_XX=77564;gnomADv4_1_AN_joint_XY=74034;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=32114;gnomADv4_1_nhomalt_joint_XX=16369;gnomADv4_1_nhomalt_joint_XY=15745;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28422441 chr22_28422441_AT_A AT A 26 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=26;CADDIndel_PHREDscore=0.642;CADDIndel_Rawscore=-0.130599;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-115799del|||||||rs766933774||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28422456del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+20444del|||||||rs766933774||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28422456del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-115799del|||||||rs766933774||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28422456del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-115799del|||||||rs766933774||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28422456del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+20444del|||||||rs766933774||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28422456del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+20444del|||||||rs766933774||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28422456del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-115799del|||||||rs766933774||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28422456del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-115799del|||||||rs766933774||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28422456del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-115799del|||||||rs766933774||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28422456del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-115799del|||||||rs766933774||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28422456del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-115799del|||||||rs766933774||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28422456del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-115799del|||||||rs766933774||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28422456del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-115799del|||||||rs766933774||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28422456del|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|31|-21|-8|-50;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=477;gnomADv4_1_AC_joint_XX=244;gnomADv4_1_AC_joint_XY=233;gnomADv4_1_AF_grpmax_joint=0.0104895;gnomADv4_1_AF_joint=0.00330049;gnomADv4_1_AF_joint_XX=0.00328673;gnomADv4_1_AF_joint_XY=0.00331503;gnomADv4_1_AN_grpmax_joint=286;gnomADv4_1_AN_joint=144524;gnomADv4_1_AN_joint_XX=74238;gnomADv4_1_AN_joint_XY=70286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28422875 chr22_28422875_T_C T C 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=5.323;CADD_Rawscore=0.486417;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-116232A>G|||||||rs73168176||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28422875T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+20011A>G|||||||rs73168176||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28422875T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-116232A>G|||||||rs73168176||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28422875T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-116232A>G|||||||rs73168176||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28422875T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+20011A>G|||||||rs73168176||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28422875T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+20011A>G|||||||rs73168176||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28422875T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-116232A>G|||||||rs73168176||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28422875T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-116232A>G|||||||rs73168176||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28422875T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-116232A>G|||||||rs73168176||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28422875T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-116232A>G|||||||rs73168176||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28422875T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-116232A>G|||||||rs73168176||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28422875T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-116232A>G|||||||rs73168176||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28422875T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-116232A>G|||||||rs73168176||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28422875T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-41|-2|31|12;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41311;gnomADv4_1_AC_joint_XX=21178;gnomADv4_1_AC_joint_XY=20133;gnomADv4_1_AF_grpmax_joint=0.397925;gnomADv4_1_AF_joint=0.271544;gnomADv4_1_AF_joint_XX=0.272337;gnomADv4_1_AF_joint_XY=0.270714;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=7020;gnomADv4_1_nhomalt_joint_XX=3630;gnomADv4_1_nhomalt_joint_XY=3390;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28424339 chr22_28424339_G_A G A 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=4.026;CADD_Rawscore=0.36758;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-117696C>T|||||||rs5752743||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28424339G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+18547C>T|||||||rs5752743||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28424339G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-117696C>T|||||||rs5752743||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28424339G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-117696C>T|||||||rs5752743||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28424339G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+18547C>T|||||||rs5752743||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28424339G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+18547C>T|||||||rs5752743||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28424339G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-117696C>T|||||||rs5752743||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28424339G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-117696C>T|||||||rs5752743||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28424339G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-117696C>T|||||||rs5752743||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28424339G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-117696C>T|||||||rs5752743||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28424339G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-117696C>T|||||||rs5752743||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28424339G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-117696C>T|||||||rs5752743||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28424339G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-117696C>T|||||||rs5752743||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28424339G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-33|-20|12|34;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78384;gnomADv4_1_AC_joint_XX=39593;gnomADv4_1_AC_joint_XY=38791;gnomADv4_1_AF_grpmax_joint=0.683673;gnomADv4_1_AF_joint=0.516126;gnomADv4_1_AF_joint_XX=0.509825;gnomADv4_1_AF_joint_XY=0.522719;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151870;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=74210;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=21894;gnomADv4_1_nhomalt_joint_XX=10945;gnomADv4_1_nhomalt_joint_XY=10949;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28424477 chr22_28424477_T_C T C 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=8.79;CADD_Rawscore=0.852488;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-117834A>G|||||||rs117823468||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28424477T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+18409A>G|||||||rs117823468||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28424477T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-117834A>G|||||||rs117823468||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28424477T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-117834A>G|||||||rs117823468||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28424477T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+18409A>G|||||||rs117823468||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28424477T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+18409A>G|||||||rs117823468||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28424477T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-117834A>G|||||||rs117823468||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28424477T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-117834A>G|||||||rs117823468||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28424477T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-117834A>G|||||||rs117823468||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28424477T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-117834A>G|||||||rs117823468||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28424477T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-117834A>G|||||||rs117823468||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28424477T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-117834A>G|||||||rs117823468||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28424477T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-117834A>G|||||||rs117823468||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28424477T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|1|11|1|11;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=924;gnomADv4_1_AC_joint_XX=488;gnomADv4_1_AC_joint_XY=436;gnomADv4_1_AF_grpmax_joint=0.0136054;gnomADv4_1_AF_joint=0.0060661;gnomADv4_1_AF_joint_XX=0.00627088;gnomADv4_1_AF_joint_XY=0.00585219;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152322;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74502;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=16;gnomADv4_1_nhomalt_joint_XX=6;gnomADv4_1_nhomalt_joint_XY=10;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28424699 chr22_28424699_T_C T C 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=11.75;CADD_Rawscore=1.14358;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-118056A>G|||||||rs762110129||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28424699T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+18187A>G|||||||rs762110129||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28424699T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-118056A>G|||||||rs762110129||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28424699T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-118056A>G|||||||rs762110129||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28424699T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+18187A>G|||||||rs762110129||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28424699T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+18187A>G|||||||rs762110129||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28424699T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-118056A>G|||||||rs762110129||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28424699T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-118056A>G|||||||rs762110129||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28424699T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-118056A>G|||||||rs762110129||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28424699T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-118056A>G|||||||rs762110129||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28424699T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-118056A>G|||||||rs762110129||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28424699T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-118056A>G|||||||rs762110129||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28424699T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-118056A>G|||||||rs762110129||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28424699T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7MBF|enhancer||||||||||rs762110129|||||||||||||||||||||chr22:g.28424699T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|9|-6|6|-12;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,ENSR22_B7MBF;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129;gnomADv4_1_AC_joint_XX=61;gnomADv4_1_AC_joint_XY=68;gnomADv4_1_AF_grpmax_joint=0.000249882;gnomADv4_1_AF_joint=0.000847413;gnomADv4_1_AF_joint_XX=0.000783417;gnomADv4_1_AF_joint_XY=0.000914421;gnomADv4_1_AN_grpmax_joint=68032;gnomADv4_1_AN_joint=152228;gnomADv4_1_AN_joint_XX=77864;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28426211 chr22_28426211_CA_C CA C 26 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=26;CADDIndel_PHREDscore=0.33;CADDIndel_Rawscore=-0.297714;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-119569del|||||||rs34448246||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28426231del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+16674del|||||||rs34448246||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28426231del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-119569del|||||||rs34448246||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28426231del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-119569del|||||||rs34448246||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28426231del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+16674del|||||||rs34448246||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28426231del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+16674del|||||||rs34448246||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28426231del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-119569del|||||||rs34448246||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28426231del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-119569del|||||||rs34448246||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28426231del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-119569del|||||||rs34448246||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28426231del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-119569del|||||||rs34448246||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28426231del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-119569del|||||||rs34448246||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28426231del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-119569del|||||||rs34448246||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28426231del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-119569del|||||||rs34448246||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28426231del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-39|-27|-39|-27;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36631;gnomADv4_1_AC_joint_XX=19503;gnomADv4_1_AC_joint_XY=17128;gnomADv4_1_AF_grpmax_joint=0.507006;gnomADv4_1_AF_joint=0.428112;gnomADv4_1_AF_joint_XX=0.428468;gnomADv4_1_AF_joint_XY=0.427708;gnomADv4_1_AN_grpmax_joint=2712;gnomADv4_1_AN_joint=85564;gnomADv4_1_AN_joint_XX=45518;gnomADv4_1_AN_joint_XY=40046;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4930;gnomADv4_1_nhomalt_joint_XX=2556;gnomADv4_1_nhomalt_joint_XY=2374;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28427517 chr22_28427517_AG_A AG A 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.842;CADDIndel_Rawscore=-0.062161;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-120875del|||||||rs60024566||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28427519del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+15368del|||||||rs60024566||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28427519del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-120875del|||||||rs60024566||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28427519del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-120875del|||||||rs60024566||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28427519del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+15368del|||||||rs60024566||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28427519del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+15368del|||||||rs60024566||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28427519del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-120875del|||||||rs60024566||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28427519del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-120875del|||||||rs60024566||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28427519del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-120875del|||||||rs60024566||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28427519del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-120875del|||||||rs60024566||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28427519del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-120875del|||||||rs60024566||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28427519del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-120875del|||||||rs60024566||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28427519del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-120875del|||||||rs60024566||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28427519del|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-34|-31|10|-20;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9977;gnomADv4_1_AC_joint_XX=4897;gnomADv4_1_AC_joint_XY=5080;gnomADv4_1_AF_grpmax_joint=0.13978;gnomADv4_1_AF_joint=0.065589;gnomADv4_1_AF_joint_XX=0.0629823;gnomADv4_1_AF_joint_XY=0.0683145;gnomADv4_1_AN_grpmax_joint=15274;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=482;gnomADv4_1_nhomalt_joint_XX=215;gnomADv4_1_nhomalt_joint_XY=267;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28428607 chr22_28428607_A_ATTATTTTATT A ATTATTTTATT 42 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=1.556;CADDIndel_Rawscore=0.09772;CSQ=TTATTTTATT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-121974_382-121965dup|||||||rs202173981||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28428645_28428654dup|||||||||||||,TTATTTTATT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+14269_188+14278dup|||||||rs202173981||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28428645_28428654dup|||||||||||||,TTATTTTATT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-121974_382-121965dup|||||||rs202173981||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28428645_28428654dup|||||||||||||,TTATTTTATT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-121974_382-121965dup|||||||rs202173981||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28428645_28428654dup|||||||||||||,TTATTTTATT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+14269_27+14278dup|||||||rs202173981||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28428645_28428654dup|||||||||||||,TTATTTTATT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+14269_27+14278dup|||||||rs202173981||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28428645_28428654dup|||||||||||||,TTATTTTATT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-121974_304-121965dup|||||||rs202173981||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28428645_28428654dup|||||||||||||,TTATTTTATT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-121974_382-121965dup|||||||rs202173981||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28428645_28428654dup|||||||||||||,TTATTTTATT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-121974_382-121965dup|||||||rs202173981||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28428645_28428654dup|||||||||||||,TTATTTTATT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-121974_382-121965dup|||||||rs202173981||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28428645_28428654dup|||||||||||||,TTATTTTATT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-121974_292-121965dup|||||||rs202173981||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28428645_28428654dup|||||||||||||,TTATTTTATT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-121974_304-121965dup|||||||rs202173981||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28428645_28428654dup|||||||||||||,TTATTTTATT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-121974_76-121965dup|||||||rs202173981||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28428645_28428654dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTATTTTATT,TTATTTTATT,TTATTTTATT,TTATTTTATT,TTATTTTATT,TTATTTTATT,TTATTTTATT,TTATTTTATT,TTATTTTATT,TTATTTTATT,TTATTTTATT,TTATTTTATT,TTATTTTATT;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30030;gnomADv4_1_AC_joint_XX=15873;gnomADv4_1_AC_joint_XY=14157;gnomADv4_1_AF_grpmax_joint=0.308511;gnomADv4_1_AF_joint=0.211342;gnomADv4_1_AF_joint_XX=0.216224;gnomADv4_1_AF_joint_XY=0.206124;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=142092;gnomADv4_1_AN_joint_XX=73410;gnomADv4_1_AN_joint_XY=68682;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4110;gnomADv4_1_nhomalt_joint_XX=2203;gnomADv4_1_nhomalt_joint_XY=1907;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28430036 chr22_28430036_A_AT A AT 27 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=27;CADDIndel_PHREDscore=3.663;CADDIndel_Rawscore=0.335323;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-123394dup|||||||rs919396993||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28430060dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+12849dup|||||||rs919396993||-1||HGNC|HGNC:29179|5||||||||Ensembl|||||||chr22:g.28430060dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-123394dup|||||||rs919396993||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28430060dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-123394dup|||||||rs919396993||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28430060dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+12849dup|||||||rs919396993||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq|||||||chr22:g.28430060dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+12849dup|||||||rs919396993||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq|||||||chr22:g.28430060dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-123394dup|||||||rs919396993||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28430060dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-123394dup|||||||rs919396993||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28430060dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-123394dup|||||||rs919396993||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28430060dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-123394dup|||||||rs919396993||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28430060dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-123394dup|||||||rs919396993||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28430060dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-123394dup|||||||rs919396993||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28430060dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-123394dup|||||||rs919396993||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28430060dup|||||||||||||;SpliceAI=AT|TTC28|0.00|0.00|0.00|0.00|32|-11|32|36;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40502;gnomADv4_1_AC_joint_XX=22126;gnomADv4_1_AC_joint_XY=18376;gnomADv4_1_AF_grpmax_joint=0.545455;gnomADv4_1_AF_joint=0.368361;gnomADv4_1_AF_joint_XX=0.374547;gnomADv4_1_AF_joint_XY=0.361178;gnomADv4_1_AN_grpmax_joint=176;gnomADv4_1_AN_joint=109952;gnomADv4_1_AN_joint_XX=59074;gnomADv4_1_AN_joint_XY=50878;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8549;gnomADv4_1_nhomalt_joint_XX=4702;gnomADv4_1_nhomalt_joint_XY=3847;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28430887 chr22_28430887_GA_G GA G 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.185;CADDIndel_Rawscore=-0.447044;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-124245del|||||||rs695539||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28430903del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+11998del|||||||rs695539||-1||HGNC|HGNC:29179|5||||||||Ensembl||A|A||||chr22:g.28430903del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-124245del|||||||rs695539||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28430903del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-124245del|||||||rs695539||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28430903del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+11998del|||||||rs695539||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||A|A||||chr22:g.28430903del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+11998del|||||||rs695539||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||A|A||||chr22:g.28430903del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-124245del|||||||rs695539||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28430903del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-124245del|||||||rs695539||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28430903del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-124245del|||||||rs695539||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28430903del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-124245del|||||||rs695539||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28430903del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-124245del|||||||rs695539||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28430903del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-124245del|||||||rs695539||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28430903del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-124245del|||||||rs695539||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28430903del|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-16|-12|-10|33;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72531;gnomADv4_1_AC_joint_XX=37592;gnomADv4_1_AC_joint_XY=34939;gnomADv4_1_AF_grpmax_joint=0.595498;gnomADv4_1_AF_joint=0.538919;gnomADv4_1_AF_joint_XX=0.539479;gnomADv4_1_AF_joint_XY=0.538318;gnomADv4_1_AN_grpmax_joint=4220;gnomADv4_1_AN_joint=134586;gnomADv4_1_AN_joint_XX=69682;gnomADv4_1_AN_joint_XY=64904;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=18177;gnomADv4_1_nhomalt_joint_XX=9429;gnomADv4_1_nhomalt_joint_XY=8748;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28434703 chr22_28434703_T_C T C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.285;CADD_Rawscore=-0.335401;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-128060A>G|||||||rs116931051||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28434703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+8183A>G|||||||rs116931051||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28434703T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-128060A>G|||||||rs116931051||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28434703T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-128060A>G|||||||rs116931051||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28434703T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+8183A>G|||||||rs116931051||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28434703T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+8183A>G|||||||rs116931051||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28434703T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-128060A>G|||||||rs116931051||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28434703T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-128060A>G|||||||rs116931051||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28434703T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-128060A>G|||||||rs116931051||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28434703T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-128060A>G|||||||rs116931051||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28434703T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-128060A>G|||||||rs116931051||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28434703T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-128060A>G|||||||rs116931051||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28434703T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-128060A>G|||||||rs116931051||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28434703T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|9|26|1|-44;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1107;gnomADv4_1_AC_joint_XX=595;gnomADv4_1_AC_joint_XY=512;gnomADv4_1_AF_grpmax_joint=0.0112186;gnomADv4_1_AF_joint=0.00727266;gnomADv4_1_AF_joint_XX=0.00764939;gnomADv4_1_AF_joint_XY=0.00687895;gnomADv4_1_AN_grpmax_joint=68012;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9;gnomADv4_1_nhomalt_joint_XX=5;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28437514 chr22_28437514_C_A C A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=4.64;CADD_Rawscore=0.422641;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-130871G>T|||||||rs695388||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28437514C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+5372G>T|||||||rs695388||-1||HGNC|HGNC:29179|5||||||||Ensembl||C|C||||chr22:g.28437514C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-130871G>T|||||||rs695388||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28437514C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-130871G>T|||||||rs695388||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28437514C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+5372G>T|||||||rs695388||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||C|C||||chr22:g.28437514C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+5372G>T|||||||rs695388||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||C|C||||chr22:g.28437514C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-130871G>T|||||||rs695388||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28437514C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-130871G>T|||||||rs695388||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28437514C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-130871G>T|||||||rs695388||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28437514C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-130871G>T|||||||rs695388||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28437514C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-130871G>T|||||||rs695388||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28437514C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-130871G>T|||||||rs695388||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28437514C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-130871G>T|||||||rs695388||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28437514C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-17|-1|-20|-41;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71097;gnomADv4_1_AC_joint_XX=36532;gnomADv4_1_AC_joint_XY=34565;gnomADv4_1_AF_grpmax_joint=0.536115;gnomADv4_1_AF_joint=0.46762;gnomADv4_1_AF_joint_XX=0.469901;gnomADv4_1_AF_joint_XY=0.465234;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=17146;gnomADv4_1_nhomalt_joint_XX=8846;gnomADv4_1_nhomalt_joint_XY=8300;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28438543 chr22_28438543_T_C T C 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=17.15;CADD_Rawscore=2.08505;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-131900A>G|||||||rs17412920||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28438543T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+4343A>G|||||||rs17412920||-1||HGNC|HGNC:29179|5||||||||Ensembl||T|T||||chr22:g.28438543T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-131900A>G|||||||rs17412920||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28438543T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-131900A>G|||||||rs17412920||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28438543T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+4343A>G|||||||rs17412920||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||T|T||||chr22:g.28438543T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+4343A>G|||||||rs17412920||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||T|T||||chr22:g.28438543T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-131900A>G|||||||rs17412920||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28438543T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-131900A>G|||||||rs17412920||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28438543T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-131900A>G|||||||rs17412920||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28438543T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-131900A>G|||||||rs17412920||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28438543T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-131900A>G|||||||rs17412920||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28438543T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-131900A>G|||||||rs17412920||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28438543T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-131900A>G|||||||rs17412920||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28438543T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|0|10|1|11;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39950;gnomADv4_1_AC_joint_XX=20441;gnomADv4_1_AC_joint_XY=19509;gnomADv4_1_AF_grpmax_joint=0.387759;gnomADv4_1_AF_joint=0.262646;gnomADv4_1_AF_joint_XX=0.262819;gnomADv4_1_AF_joint_XY=0.262465;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152106;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6580;gnomADv4_1_nhomalt_joint_XX=3377;gnomADv4_1_nhomalt_joint_XY=3203;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28438781 chr22_28438781_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.005;CADD_Rawscore=-0.016499;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-132138C>T|||||||rs695629||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28438781G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+4105C>T|||||||rs695629||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28438781G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-132138C>T|||||||rs695629||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28438781G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-132138C>T|||||||rs695629||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28438781G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+4105C>T|||||||rs695629||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28438781G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+4105C>T|||||||rs695629||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28438781G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-132138C>T|||||||rs695629||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28438781G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-132138C>T|||||||rs695629||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28438781G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-132138C>T|||||||rs695629||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28438781G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-132138C>T|||||||rs695629||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28438781G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-132138C>T|||||||rs695629||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28438781G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-132138C>T|||||||rs695629||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28438781G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-132138C>T|||||||rs695629||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28438781G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-34|11|-34|-41;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72459;gnomADv4_1_AC_joint_XX=37257;gnomADv4_1_AC_joint_XY=35202;gnomADv4_1_AF_grpmax_joint=0.534218;gnomADv4_1_AF_joint=0.476503;gnomADv4_1_AF_joint_XX=0.479276;gnomADv4_1_AF_joint_XY=0.473603;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=17689;gnomADv4_1_nhomalt_joint_XX=9143;gnomADv4_1_nhomalt_joint_XY=8546;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28439470 chr22_28439470_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.812;CADD_Rawscore=0.348592;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-132827C>T|||||||rs5762622||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28439470G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+3416C>T|||||||rs5762622||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28439470G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-132827C>T|||||||rs5762622||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28439470G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-132827C>T|||||||rs5762622||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28439470G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+3416C>T|||||||rs5762622||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28439470G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+3416C>T|||||||rs5762622||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28439470G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-132827C>T|||||||rs5762622||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28439470G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-132827C>T|||||||rs5762622||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28439470G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-132827C>T|||||||rs5762622||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28439470G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-132827C>T|||||||rs5762622||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28439470G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-132827C>T|||||||rs5762622||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28439470G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-132827C>T|||||||rs5762622||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28439470G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-132827C>T|||||||rs5762622||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28439470G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-18|-3|39|-3;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39821;gnomADv4_1_AC_joint_XX=20357;gnomADv4_1_AC_joint_XY=19464;gnomADv4_1_AF_grpmax_joint=0.385495;gnomADv4_1_AF_joint=0.261849;gnomADv4_1_AF_joint_XX=0.26186;gnomADv4_1_AF_joint_XY=0.261838;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6532;gnomADv4_1_nhomalt_joint_XX=3348;gnomADv4_1_nhomalt_joint_XY=3184;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28442733 chr22_28442733_G_A G A 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=5.995;CADD_Rawscore=0.552639;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-136090C>T|||||||rs11703980||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28442733G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000490475|protein_coding_CDS_not_defined||1/3|ENST00000490475.1:n.188+153C>T|||||||rs11703980||-1||HGNC|HGNC:29179|5||||||||Ensembl||G|G||||chr22:g.28442733G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-136090C>T|||||||rs11703980||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28442733G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-136090C>T|||||||rs11703980||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28442733G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393404.1|protein_coding||1/21|NM_001393404.1:c.27+153C>T|||||||rs11703980||-1||EntrezGene|HGNC:29179|||NP_001380333.1||||||RefSeq||G|G||||chr22:g.28442733G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393405.1|protein_coding||1/20|NM_001393405.1:c.27+153C>T|||||||rs11703980||-1||EntrezGene|HGNC:29179|||NP_001380334.1||||||RefSeq||G|G||||chr22:g.28442733G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-136090C>T|||||||rs11703980||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28442733G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-136090C>T|||||||rs11703980||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28442733G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-136090C>T|||||||rs11703980||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28442733G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-136090C>T|||||||rs11703980||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28442733G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-136090C>T|||||||rs11703980||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28442733G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-136090C>T|||||||rs11703980||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28442733G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-136090C>T|||||||rs11703980||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28442733G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_D3F4Q|enhancer||||||||||rs11703980|||||||||||||||||||||chr22:g.28442733G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-5|-47|-23|-47;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000490475,NM_001145418.2,NM_001393403.1,NM_001393404.1,NM_001393405.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,ENSR22_D3F4Q;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27789;gnomADv4_1_AC_joint_XX=14316;gnomADv4_1_AC_joint_XY=13473;gnomADv4_1_AF_grpmax_joint=0.258664;gnomADv4_1_AF_joint=0.182587;gnomADv4_1_AF_joint_XX=0.184039;gnomADv4_1_AF_joint_XY=0.181069;gnomADv4_1_AN_grpmax_joint=67980;gnomADv4_1_AN_joint=152196;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3248;gnomADv4_1_nhomalt_joint_XX=1677;gnomADv4_1_nhomalt_joint_XY=1571;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28449291 chr22_28449291_A_G A G 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.681;CADD_Rawscore=0.118036;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-142648T>C|||||||rs5762629||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28449291A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-142648T>C|||||||rs5762629||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28449291A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-142648T>C|||||||rs5762629||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28449291A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-142648T>C|||||||rs5762629||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28449291A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-142648T>C|||||||rs5762629||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28449291A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-142648T>C|||||||rs5762629||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28449291A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-142648T>C|||||||rs5762629||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28449291A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-142648T>C|||||||rs5762629||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28449291A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-142648T>C|||||||rs5762629||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28449291A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-142648T>C|||||||rs5762629||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28449291A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|36|-9|36|9;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=99206;gnomADv4_1_AC_joint_XX=50553;gnomADv4_1_AC_joint_XY=48653;gnomADv4_1_AF_grpmax_joint=0.789561;gnomADv4_1_AF_joint=0.652422;gnomADv4_1_AF_joint_XX=0.65035;gnomADv4_1_AF_joint_XY=0.654589;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=33383;gnomADv4_1_nhomalt_joint_XX=17025;gnomADv4_1_nhomalt_joint_XY=16358;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28449893 chr22_28449893_G_C G C 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=11.58;CADD_Rawscore=1.12354;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-143250C>G|||||||rs5752745||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28449893G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-143250C>G|||||||rs5752745||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28449893G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-143250C>G|||||||rs5752745||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28449893G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-143250C>G|||||||rs5752745||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28449893G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-143250C>G|||||||rs5752745||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28449893G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-143250C>G|||||||rs5752745||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28449893G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-143250C>G|||||||rs5752745||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28449893G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-143250C>G|||||||rs5752745||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28449893G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-143250C>G|||||||rs5752745||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28449893G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-143250C>G|||||||rs5752745||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28449893G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|5|-14|5|-14;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60185;gnomADv4_1_AC_joint_XX=30472;gnomADv4_1_AC_joint_XY=29713;gnomADv4_1_AF_grpmax_joint=0.623885;gnomADv4_1_AF_joint=0.396209;gnomADv4_1_AF_joint_XX=0.392377;gnomADv4_1_AF_joint_XY=0.400218;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=151902;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14075;gnomADv4_1_nhomalt_joint_XX=7084;gnomADv4_1_nhomalt_joint_XY=6991;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28450592 chr22_28450592_A_T A T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=5.988;CADD_Rawscore=0.551929;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-143949T>A|||||||rs5752746||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28450592A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-143949T>A|||||||rs5752746||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28450592A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-143949T>A|||||||rs5752746||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28450592A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-143949T>A|||||||rs5752746||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28450592A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-143949T>A|||||||rs5752746||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28450592A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-143949T>A|||||||rs5752746||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28450592A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-143949T>A|||||||rs5752746||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28450592A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-143949T>A|||||||rs5752746||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28450592A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-143949T>A|||||||rs5752746||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28450592A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-143949T>A|||||||rs5752746||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28450592A>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-45|-6|-1|48;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68334;gnomADv4_1_AC_joint_XX=35149;gnomADv4_1_AC_joint_XY=33185;gnomADv4_1_AF_grpmax_joint=0.523056;gnomADv4_1_AF_joint=0.449572;gnomADv4_1_AF_joint_XX=0.452205;gnomADv4_1_AF_joint_XY=0.446816;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16065;gnomADv4_1_nhomalt_joint_XX=8310;gnomADv4_1_nhomalt_joint_XY=7755;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28451018 chr22_28451018_T_C T C 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=3.273;CADD_Rawscore=0.300029;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-144375A>G|||||||rs5762632||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28451018T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-144375A>G|||||||rs5762632||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28451018T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-144375A>G|||||||rs5762632||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28451018T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-144375A>G|||||||rs5762632||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28451018T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-144375A>G|||||||rs5762632||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28451018T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-144375A>G|||||||rs5762632||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28451018T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-144375A>G|||||||rs5762632||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28451018T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-144375A>G|||||||rs5762632||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28451018T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-144375A>G|||||||rs5762632||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28451018T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-144375A>G|||||||rs5762632||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28451018T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-43|21|-37|21;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11399;gnomADv4_1_AC_joint_XX=5688;gnomADv4_1_AC_joint_XY=5711;gnomADv4_1_AF_grpmax_joint=0.153363;gnomADv4_1_AF_joint=0.0748841;gnomADv4_1_AF_joint_XX=0.0730936;gnomADv4_1_AF_joint_XY=0.0767566;gnomADv4_1_AN_grpmax_joint=15284;gnomADv4_1_AN_joint=152222;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=633;gnomADv4_1_nhomalt_joint_XX=296;gnomADv4_1_nhomalt_joint_XY=337;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28451908 chr22_28451908_T_C T C 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.228;CADD_Rawscore=0.295955;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-145265A>G|||||||rs9613617||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28451908T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-145265A>G|||||||rs9613617||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28451908T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-145265A>G|||||||rs9613617||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28451908T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-145265A>G|||||||rs9613617||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28451908T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-145265A>G|||||||rs9613617||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28451908T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-145265A>G|||||||rs9613617||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28451908T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-145265A>G|||||||rs9613617||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28451908T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-145265A>G|||||||rs9613617||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28451908T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-145265A>G|||||||rs9613617||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28451908T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-145265A>G|||||||rs9613617||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28451908T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-7|-6|-21|-6;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43075;gnomADv4_1_AC_joint_XX=22053;gnomADv4_1_AC_joint_XY=21022;gnomADv4_1_AF_grpmax_joint=0.400706;gnomADv4_1_AF_joint=0.283269;gnomADv4_1_AF_joint_XX=0.283582;gnomADv4_1_AF_joint_XY=0.282942;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=7517;gnomADv4_1_nhomalt_joint_XX=3877;gnomADv4_1_nhomalt_joint_XY=3640;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28452290 chr22_28452290_C_T C T 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.76;CADD_Rawscore=-0.088295;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-145647G>A|||||||rs695459||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28452290C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-145647G>A|||||||rs695459||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28452290C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-145647G>A|||||||rs695459||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28452290C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-145647G>A|||||||rs695459||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28452290C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-145647G>A|||||||rs695459||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28452290C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-145647G>A|||||||rs695459||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28452290C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-145647G>A|||||||rs695459||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28452290C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-145647G>A|||||||rs695459||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28452290C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-145647G>A|||||||rs695459||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28452290C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-145647G>A|||||||rs695459||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28452290C>T|||1||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|-25|-2|-25;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56632;gnomADv4_1_AC_joint_XX=28960;gnomADv4_1_AC_joint_XY=27672;gnomADv4_1_AF_grpmax_joint=0.462661;gnomADv4_1_AF_joint=0.382101;gnomADv4_1_AF_joint_XX=0.380772;gnomADv4_1_AF_joint_XY=0.383502;gnomADv4_1_AN_grpmax_joint=4660;gnomADv4_1_AN_joint=148212;gnomADv4_1_AN_joint_XX=76056;gnomADv4_1_AN_joint_XY=72156;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=10821;gnomADv4_1_nhomalt_joint_XX=5495;gnomADv4_1_nhomalt_joint_XY=5326;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28453761 chr22_28453761_G_A G A 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.26;CADD_Rawscore=0.042318;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-147118C>T|||||||rs695797||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28453761G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-147118C>T|||||||rs695797||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28453761G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-147118C>T|||||||rs695797||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28453761G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-147118C>T|||||||rs695797||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28453761G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-147118C>T|||||||rs695797||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28453761G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-147118C>T|||||||rs695797||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28453761G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-147118C>T|||||||rs695797||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28453761G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-147118C>T|||||||rs695797||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28453761G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-147118C>T|||||||rs695797||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28453761G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-147118C>T|||||||rs695797||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28453761G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-6|32|-1|-48;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=117607;gnomADv4_1_AC_joint_XX=59958;gnomADv4_1_AC_joint_XY=57649;gnomADv4_1_AF_grpmax_joint=0.851637;gnomADv4_1_AF_joint=0.772927;gnomADv4_1_AF_joint_XX=0.770867;gnomADv4_1_AF_joint_XY=0.775081;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=45657;gnomADv4_1_nhomalt_joint_XX=23228;gnomADv4_1_nhomalt_joint_XY=22429;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28456160 chr22_28456160_G_GA G GA 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=32;CADDIndel_PHREDscore=0.355;CADDIndel_Rawscore=-0.27935;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-149518dup|||||||rs777082418||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28456176dup|||||||||||||,A|upstream_gene_variant|MODIFIER|MIR5739|ENSG00000276162|Transcript|ENST00000619803|miRNA||||||||||rs777082418|3708|1||HGNC|HGNC:49977|||||||||Ensembl|||||||chr22:g.28456176dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-149518dup|||||||rs777082418||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28456176dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-149518dup|||||||rs777082418||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28456176dup|||||||||||||,A|upstream_gene_variant|MODIFIER|MIR5739|102466081|Transcript|NR_106713.1|miRNA||||||||||rs777082418|3708|1||EntrezGene|HGNC:49977|||||||||RefSeq|||||||chr22:g.28456176dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-149518dup|||||||rs777082418||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28456176dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-149518dup|||||||rs777082418||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28456176dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-149518dup|||||||rs777082418||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28456176dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-149518dup|||||||rs777082418||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28456176dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-149518dup|||||||rs777082418||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28456176dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-149518dup|||||||rs777082418||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28456176dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-149518dup|||||||rs777082418||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28456176dup|||||||||||||;SpliceAI=GA|TTC28|0.00|0.00|0.00|0.00|0|-9|0|-9;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000619803,NM_001145418.2,NM_001393403.1,NR_106713.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000276162,23331,23331,102466081,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,MIR5739,TTC28,TTC28,MIR5739,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13576;gnomADv4_1_AC_joint_XX=7006;gnomADv4_1_AC_joint_XY=6570;gnomADv4_1_AF_grpmax_joint=0.247525;gnomADv4_1_AF_joint=0.127825;gnomADv4_1_AF_joint_XX=0.125362;gnomADv4_1_AF_joint_XY=0.130559;gnomADv4_1_AN_grpmax_joint=202;gnomADv4_1_AN_joint=106208;gnomADv4_1_AN_joint_XX=55886;gnomADv4_1_AN_joint_XY=50322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=761;gnomADv4_1_nhomalt_joint_XX=378;gnomADv4_1_nhomalt_joint_XY=383;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28456867 chr22_28456867_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.687;CADD_Rawscore=-0.11351;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-150224G>A|||||||rs111631834||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28456867C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MIR5739|ENSG00000276162|Transcript|ENST00000619803|miRNA||||||||||rs111631834|3002|1||HGNC|HGNC:49977|||||||||Ensembl||C|C||||chr22:g.28456867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-150224G>A|||||||rs111631834||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28456867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-150224G>A|||||||rs111631834||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28456867C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MIR5739|102466081|Transcript|NR_106713.1|miRNA||||||||||rs111631834|3002|1||EntrezGene|HGNC:49977|||||||||RefSeq||C|C||||chr22:g.28456867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-150224G>A|||||||rs111631834||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28456867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-150224G>A|||||||rs111631834||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28456867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-150224G>A|||||||rs111631834||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28456867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-150224G>A|||||||rs111631834||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28456867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-150224G>A|||||||rs111631834||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28456867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-150224G>A|||||||rs111631834||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28456867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-150224G>A|||||||rs111631834||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28456867C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|45|-6|-44|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000619803,NM_001145418.2,NM_001393403.1,NR_106713.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000276162,23331,23331,102466081,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,MIR5739,TTC28,TTC28,MIR5739,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11;gnomADv4_1_AC_joint_XX=8;gnomADv4_1_AC_joint_XY=3;gnomADv4_1_AF_grpmax_joint=0.00010289;gnomADv4_1_AF_joint=7.22648e-05;gnomADv4_1_AF_joint_XX=0.000102759;gnomADv4_1_AF_joint_XY=4.0341e-05;gnomADv4_1_AN_grpmax_joint=68034;gnomADv4_1_AN_joint=152218;gnomADv4_1_AN_joint_XX=77852;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28459035 chr22_28459035_A_G A G 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.837;CADD_Rawscore=-0.063506;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-152392T>C|||||||rs695439||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28459035A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|MIR5739|ENSG00000276162|Transcript|ENST00000619803|miRNA||||||||||rs695439|834|1||HGNC|HGNC:49977|||||||||Ensembl||A|A||||chr22:g.28459035A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-152392T>C|||||||rs695439||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28459035A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-152392T>C|||||||rs695439||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28459035A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|MIR5739|102466081|Transcript|NR_106713.1|miRNA||||||||||rs695439|834|1||EntrezGene|HGNC:49977|||||||||RefSeq||A|A||||chr22:g.28459035A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-152392T>C|||||||rs695439||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28459035A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-152392T>C|||||||rs695439||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28459035A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-152392T>C|||||||rs695439||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28459035A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-152392T>C|||||||rs695439||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28459035A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-152392T>C|||||||rs695439||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28459035A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-152392T>C|||||||rs695439||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28459035A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-152392T>C|||||||rs695439||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28459035A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|38|-21|16|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000619803,NM_001145418.2,NM_001393403.1,NR_106713.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000276162,23331,23331,102466081,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,MIR5739,TTC28,TTC28,MIR5739,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=113953;gnomADv4_1_AC_joint_XX=58050;gnomADv4_1_AC_joint_XY=55903;gnomADv4_1_AF_grpmax_joint=0.842138;gnomADv4_1_AF_joint=0.750007;gnomADv4_1_AF_joint_XX=0.747258;gnomADv4_1_AF_joint_XY=0.752882;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=151936;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=42922;gnomADv4_1_nhomalt_joint_XX=21808;gnomADv4_1_nhomalt_joint_XY=21114;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28460583 chr22_28460583_T_C T C 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=2.458;CADD_Rawscore=0.219053;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-153940A>G|||||||rs5762634||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28460583T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|MIR5739|ENSG00000276162|Transcript|ENST00000619803|miRNA||||||||||rs5762634|635|1||HGNC|HGNC:49977|||||||||Ensembl||T|T||||chr22:g.28460583T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-153940A>G|||||||rs5762634||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28460583T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-153940A>G|||||||rs5762634||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28460583T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|MIR5739|102466081|Transcript|NR_106713.1|miRNA||||||||||rs5762634|635|1||EntrezGene|HGNC:49977|||||||||RefSeq||T|T||||chr22:g.28460583T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-153940A>G|||||||rs5762634||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28460583T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-153940A>G|||||||rs5762634||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28460583T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-153940A>G|||||||rs5762634||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28460583T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-153940A>G|||||||rs5762634||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28460583T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-153940A>G|||||||rs5762634||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28460583T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-153940A>G|||||||rs5762634||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28460583T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-153940A>G|||||||rs5762634||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28460583T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|23|-49|1|-3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000619803,NM_001145418.2,NM_001393403.1,NR_106713.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000276162,23331,23331,102466081,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,MIR5739,TTC28,TTC28,MIR5739,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13544;gnomADv4_1_AC_joint_XX=6811;gnomADv4_1_AC_joint_XY=6733;gnomADv4_1_AF_grpmax_joint=0.166667;gnomADv4_1_AF_joint=0.0893639;gnomADv4_1_AF_joint_XX=0.0878657;gnomADv4_1_AF_joint_XY=0.0909324;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151560;gnomADv4_1_AN_joint_XX=77516;gnomADv4_1_AN_joint_XY=74044;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=724;gnomADv4_1_nhomalt_joint_XX=342;gnomADv4_1_nhomalt_joint_XY=382;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28460607 chr22_28460607_GTAGATAGATAGA_G;chr22_28460607_GTAGATAGATAGATAGATAGA_G GTAGATAGATAGA G 43 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.668;CADDIndel_Rawscore=-0.12075;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-153976_382-153965del|||||||rs4035771||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||TAGATAGATAGA|TAGATAGATAGA||||chr22:g.28460656_28460667del|||||||||||||,-|downstream_gene_variant|MODIFIER|MIR5739|ENSG00000276162|Transcript|ENST00000619803|miRNA||||||||||rs4035771|660|1||HGNC|HGNC:49977|||||||||Ensembl||TAGATAGATAGA|TAGATAGATAGA||||chr22:g.28460656_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-153976_382-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||TAGATAGATAGA|TAGATAGATAGA||||chr22:g.28460656_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-153976_382-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||TAGATAGATAGA|TAGATAGATAGA||||chr22:g.28460656_28460667del|||||||||||||,-|downstream_gene_variant|MODIFIER|MIR5739|102466081|Transcript|NR_106713.1|miRNA||||||||||rs4035771|660|1||EntrezGene|HGNC:49977|||||||||RefSeq||TAGATAGATAGA|TAGATAGATAGA||||chr22:g.28460656_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-153976_304-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||TAGATAGATAGA|TAGATAGATAGA||||chr22:g.28460656_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-153976_382-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||TAGATAGATAGA|TAGATAGATAGA||||chr22:g.28460656_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-153976_382-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||TAGATAGATAGA|TAGATAGATAGA||||chr22:g.28460656_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-153976_382-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||TAGATAGATAGA|TAGATAGATAGA||||chr22:g.28460656_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-153976_292-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||TAGATAGATAGA|TAGATAGATAGA||||chr22:g.28460656_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-153976_304-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||TAGATAGATAGA|TAGATAGATAGA||||chr22:g.28460656_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-153976_76-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||TAGATAGATAGA|TAGATAGATAGA||||chr22:g.28460656_28460667del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000619803,NM_001145418.2,NM_001393403.1,NR_106713.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000276162,23331,23331,102466081,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,MIR5739,TTC28,TTC28,MIR5739,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45258;gnomADv4_1_AC_joint_XX=23458;gnomADv4_1_AC_joint_XY=21800;gnomADv4_1_AF_grpmax_joint=0.369977;gnomADv4_1_AF_joint=0.313456;gnomADv4_1_AF_joint_XX=0.314628;gnomADv4_1_AF_joint_XY=0.312205;gnomADv4_1_AN_grpmax_joint=14136;gnomADv4_1_AN_joint=144384;gnomADv4_1_AN_joint_XX=74558;gnomADv4_1_AN_joint_XY=69826;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=7377;gnomADv4_1_nhomalt_joint_XX=3836;gnomADv4_1_nhomalt_joint_XY=3541;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 28460607 chr22_28460607_GTAGATAGATAGA_G;chr22_28460607_GTAGATAGATAGATAGATAGA_G GTAGATAGATAGATAGATAGA G 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=0.721;CADDIndel_Rawscore=-0.101629;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-153984_382-153965del|||||||rs4035771||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||TAGATAGATAGATAGATAGA|TAGATAGATAGATAGATAGA||||chr22:g.28460648_28460667del|||||||||||||,-|downstream_gene_variant|MODIFIER|MIR5739|ENSG00000276162|Transcript|ENST00000619803|miRNA||||||||||rs4035771|660|1||HGNC|HGNC:49977|||||||||Ensembl||TAGATAGATAGATAGATAGA|TAGATAGATAGATAGATAGA||||chr22:g.28460648_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-153984_382-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||TAGATAGATAGATAGATAGA|TAGATAGATAGATAGATAGA||||chr22:g.28460648_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-153984_382-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||TAGATAGATAGATAGATAGA|TAGATAGATAGATAGATAGA||||chr22:g.28460648_28460667del|||||||||||||,-|downstream_gene_variant|MODIFIER|MIR5739|102466081|Transcript|NR_106713.1|miRNA||||||||||rs4035771|660|1||EntrezGene|HGNC:49977|||||||||RefSeq||TAGATAGATAGATAGATAGA|TAGATAGATAGATAGATAGA||||chr22:g.28460648_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-153984_304-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||TAGATAGATAGATAGATAGA|TAGATAGATAGATAGATAGA||||chr22:g.28460648_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-153984_382-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||TAGATAGATAGATAGATAGA|TAGATAGATAGATAGATAGA||||chr22:g.28460648_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-153984_382-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||TAGATAGATAGATAGATAGA|TAGATAGATAGATAGATAGA||||chr22:g.28460648_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-153984_382-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||TAGATAGATAGATAGATAGA|TAGATAGATAGATAGATAGA||||chr22:g.28460648_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-153984_292-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||TAGATAGATAGATAGATAGA|TAGATAGATAGATAGATAGA||||chr22:g.28460648_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-153984_304-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||TAGATAGATAGATAGATAGA|TAGATAGATAGATAGATAGA||||chr22:g.28460648_28460667del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-153984_76-153965del|||||||rs4035771||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||TAGATAGATAGATAGATAGA|TAGATAGATAGATAGATAGA||||chr22:g.28460648_28460667del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000619803,NM_001145418.2,NM_001393403.1,NR_106713.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000276162,23331,23331,102466081,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,MIR5739,TTC28,TTC28,MIR5739,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9103;gnomADv4_1_AC_joint_XX=4761;gnomADv4_1_AC_joint_XY=4342;gnomADv4_1_AF_grpmax_joint=0.112773;gnomADv4_1_AF_joint=0.062919;gnomADv4_1_AF_joint_XX=0.0637384;gnomADv4_1_AF_joint_XY=0.0620445;gnomADv4_1_AN_grpmax_joint=38786;gnomADv4_1_AN_joint=144678;gnomADv4_1_AN_joint_XX=74696;gnomADv4_1_AN_joint_XY=69982;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=443;gnomADv4_1_nhomalt_joint_XX=210;gnomADv4_1_nhomalt_joint_XY=233;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28460772 chr22_28460772_T_C T C 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.14;CADD_Rawscore=0.016315;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-154129A>G|||||||rs695272||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28460772T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|MIR5739|ENSG00000276162|Transcript|ENST00000619803|miRNA||||||||||rs695272|824|1||HGNC|HGNC:49977|||||||||Ensembl||T|T||||chr22:g.28460772T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-154129A>G|||||||rs695272||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28460772T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-154129A>G|||||||rs695272||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28460772T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|MIR5739|102466081|Transcript|NR_106713.1|miRNA||||||||||rs695272|824|1||EntrezGene|HGNC:49977|||||||||RefSeq||T|T||||chr22:g.28460772T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-154129A>G|||||||rs695272||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28460772T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-154129A>G|||||||rs695272||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28460772T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-154129A>G|||||||rs695272||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28460772T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-154129A>G|||||||rs695272||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28460772T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-154129A>G|||||||rs695272||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28460772T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-154129A>G|||||||rs695272||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28460772T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-154129A>G|||||||rs695272||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28460772T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-43|42|0|-9;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000619803,NM_001145418.2,NM_001393403.1,NR_106713.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000276162,23331,23331,102466081,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,MIR5739,TTC28,TTC28,MIR5739,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=104784;gnomADv4_1_AC_joint_XX=53409;gnomADv4_1_AC_joint_XY=51375;gnomADv4_1_AF_grpmax_joint=0.806271;gnomADv4_1_AF_joint=0.689949;gnomADv4_1_AF_joint_XX=0.687923;gnomADv4_1_AF_joint_XY=0.692068;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=151872;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=74234;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=36319;gnomADv4_1_nhomalt_joint_XX=18432;gnomADv4_1_nhomalt_joint_XY=17887;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28466820 chr22_28466820_T_TAC;chr22_28466820_T_TACACAC T TAC 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=34;CADDIndel_PHREDscore=0.874;CADDIndel_Rawscore=-0.052495;CSQ=AC|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-160179_382-160178dup|||||||rs58512456||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28466855_28466856dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-160179_382-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28466855_28466856dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-160179_382-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28466855_28466856dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-160179_304-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28466855_28466856dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-160179_382-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28466855_28466856dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-160179_382-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28466855_28466856dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-160179_382-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28466855_28466856dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-160179_292-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28466855_28466856dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-160179_304-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28466855_28466856dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-160179_76-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28466855_28466856dup|||||||||||||;TYPE=INDEL;VEP_Allele=AC,AC,AC,AC,AC,AC,AC,AC,AC,AC;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19597;gnomADv4_1_AC_joint_XX=10061;gnomADv4_1_AC_joint_XY=9536;gnomADv4_1_AF_grpmax_joint=0.243415;gnomADv4_1_AF_joint=0.136365;gnomADv4_1_AF_joint_XX=0.135706;gnomADv4_1_AF_joint_XY=0.137067;gnomADv4_1_AN_grpmax_joint=4404;gnomADv4_1_AN_joint=143710;gnomADv4_1_AN_joint_XX=74138;gnomADv4_1_AN_joint_XY=69572;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1328;gnomADv4_1_nhomalt_joint_XX=662;gnomADv4_1_nhomalt_joint_XY=666;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28466820 chr22_28466820_T_TAC;chr22_28466820_T_TACACAC T TACACAC 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=38;CADDIndel_PHREDscore=0.826;CADDIndel_Rawscore=-0.066846;CSQ=ACACAC|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-160183_382-160178dup|||||||rs58512456||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28466851_28466856dup|||||||||||||,ACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-160183_382-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28466851_28466856dup|||||||||||||,ACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-160183_382-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28466851_28466856dup|||||||||||||,ACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-160183_304-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28466851_28466856dup|||||||||||||,ACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-160183_382-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28466851_28466856dup|||||||||||||,ACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-160183_382-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28466851_28466856dup|||||||||||||,ACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-160183_382-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28466851_28466856dup|||||||||||||,ACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-160183_292-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28466851_28466856dup|||||||||||||,ACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-160183_304-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28466851_28466856dup|||||||||||||,ACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-160183_76-160178dup|||||||rs58512456||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28466851_28466856dup|||||||||||||;TYPE=INDEL;VEP_Allele=ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41913;gnomADv4_1_AC_joint_XX=21629;gnomADv4_1_AC_joint_XY=20284;gnomADv4_1_AF_grpmax_joint=0.410217;gnomADv4_1_AF_joint=0.291833;gnomADv4_1_AF_joint_XX=0.291811;gnomADv4_1_AF_joint_XY=0.291856;gnomADv4_1_AN_grpmax_joint=14290;gnomADv4_1_AN_joint=143620;gnomADv4_1_AN_joint_XX=74120;gnomADv4_1_AN_joint_XY=69500;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=6155;gnomADv4_1_nhomalt_joint_XX=3171;gnomADv4_1_nhomalt_joint_XY=2984;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28467726 chr22_28467726_T_C T C 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.473;CADD_Rawscore=0.220795;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.382-161083A>G|||||||rs17504822||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28467726T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.382-161083A>G|||||||rs17504822||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28467726T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.382-161083A>G|||||||rs17504822||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28467726T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.304-161083A>G|||||||rs17504822||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28467726T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.382-161083A>G|||||||rs17504822||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28467726T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.382-161083A>G|||||||rs17504822||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28467726T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.382-161083A>G|||||||rs17504822||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28467726T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.292-161083A>G|||||||rs17504822||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28467726T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.304-161083A>G|||||||rs17504822||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28467726T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.76-161083A>G|||||||rs17504822||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28467726T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|29|30|1|30;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41316;gnomADv4_1_AC_joint_XX=21177;gnomADv4_1_AC_joint_XY=20139;gnomADv4_1_AF_grpmax_joint=0.408163;gnomADv4_1_AF_joint=0.271616;gnomADv4_1_AF_joint_XX=0.272345;gnomADv4_1_AF_joint_XY=0.270853;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152112;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7010;gnomADv4_1_nhomalt_joint_XX=3619;gnomADv4_1_nhomalt_joint_XY=3391;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28468690 chr22_28468690_A_AT;chr22_28468690_A_ATT A AT 21 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=21;CADDIndel_PHREDscore=0.806;CADDIndel_Rawscore=-0.073278;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+160861dup|||||||rs35984422||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28468710dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28468710dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28468710dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28468710dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28468710dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28468710dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28468710dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28468710dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28468710dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28468710dup|||||||||||||;SpliceAI=AT|TTC28|0.00|0.00|0.00|0.00|-4|20|25|38;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25025;gnomADv4_1_AC_joint_XX=13108;gnomADv4_1_AC_joint_XY=11917;gnomADv4_1_AF_grpmax_joint=0.376043;gnomADv4_1_AF_joint=0.204724;gnomADv4_1_AF_joint_XX=0.201414;gnomADv4_1_AF_joint_XY=0.208492;gnomADv4_1_AN_grpmax_joint=11028;gnomADv4_1_AN_joint=122238;gnomADv4_1_AN_joint_XX=65080;gnomADv4_1_AN_joint_XY=57158;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=3111;gnomADv4_1_nhomalt_joint_XX=1583;gnomADv4_1_nhomalt_joint_XY=1528;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28468690 chr22_28468690_A_AT;chr22_28468690_A_ATT A ATT 21 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=20;CADDIndel_PHREDscore=0.754;CADDIndel_Rawscore=-0.090061;CSQ=TT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+160860_381+160861dup|||||||rs35984422||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28468709_28468710dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+160860_381+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28468709_28468710dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+160860_381+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28468709_28468710dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+160860_303+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28468709_28468710dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+160860_381+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28468709_28468710dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+160860_381+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28468709_28468710dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+160860_381+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28468709_28468710dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+160860_291+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28468709_28468710dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+160860_303+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28468709_28468710dup|||||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+160860_75+160861dup|||||||rs35984422||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28468709_28468710dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31152;gnomADv4_1_AC_joint_XX=16897;gnomADv4_1_AC_joint_XY=14255;gnomADv4_1_AF_grpmax_joint=0.386416;gnomADv4_1_AF_joint=0.255127;gnomADv4_1_AF_joint_XX=0.25997;gnomADv4_1_AF_joint_XY=0.249615;gnomADv4_1_AN_grpmax_joint=3460;gnomADv4_1_AN_joint=122104;gnomADv4_1_AN_joint_XX=64996;gnomADv4_1_AN_joint_XY=57108;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4713;gnomADv4_1_nhomalt_joint_XX=2576;gnomADv4_1_nhomalt_joint_XY=2137;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28472550 chr22_28472550_GTA_G GTA G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=35;CADDIndel_PHREDscore=0.817;CADDIndel_Rawscore=-0.069824;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+157000_381+157001del|||||||rs60610923||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||TA|TA||||chr22:g.28472552_28472553del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+157000_381+157001del|||||||rs60610923||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||TA|TA||||chr22:g.28472552_28472553del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+157000_381+157001del|||||||rs60610923||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||TA|TA||||chr22:g.28472552_28472553del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+157000_303+157001del|||||||rs60610923||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||TA|TA||||chr22:g.28472552_28472553del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+157000_381+157001del|||||||rs60610923||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||TA|TA||||chr22:g.28472552_28472553del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+157000_381+157001del|||||||rs60610923||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||TA|TA||||chr22:g.28472552_28472553del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+157000_381+157001del|||||||rs60610923||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||TA|TA||||chr22:g.28472552_28472553del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+157000_291+157001del|||||||rs60610923||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||TA|TA||||chr22:g.28472552_28472553del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+157000_303+157001del|||||||rs60610923||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||TA|TA||||chr22:g.28472552_28472553del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+157000_75+157001del|||||||rs60610923||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||TA|TA||||chr22:g.28472552_28472553del|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-31|3|-40|28;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20434;gnomADv4_1_AC_joint_XX=10892;gnomADv4_1_AC_joint_XY=9542;gnomADv4_1_AF_grpmax_joint=0.27951;gnomADv4_1_AF_joint=0.203778;gnomADv4_1_AF_joint_XX=0.209019;gnomADv4_1_AF_joint_XY=0.198107;gnomADv4_1_AN_grpmax_joint=47798;gnomADv4_1_AN_joint=100276;gnomADv4_1_AN_joint_XX=52110;gnomADv4_1_AN_joint_XY=48166;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1751;gnomADv4_1_nhomalt_joint_XX=953;gnomADv4_1_nhomalt_joint_XY=798;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28473444 chr22_28473444_C_T C T 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.105;CADD_Rawscore=0.00808;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+156108G>A|||||||rs695796||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28473444C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+156108G>A|||||||rs695796||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28473444C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+156108G>A|||||||rs695796||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28473444C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+156108G>A|||||||rs695796||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28473444C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+156108G>A|||||||rs695796||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28473444C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+156108G>A|||||||rs695796||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28473444C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+156108G>A|||||||rs695796||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28473444C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+156108G>A|||||||rs695796||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28473444C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+156108G>A|||||||rs695796||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28473444C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+156108G>A|||||||rs695796||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28473444C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-25|25|-24|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=101099;gnomADv4_1_AC_joint_XX=51443;gnomADv4_1_AC_joint_XY=49656;gnomADv4_1_AF_grpmax_joint=0.803483;gnomADv4_1_AF_joint=0.664941;gnomADv4_1_AF_joint_XX=0.662055;gnomADv4_1_AF_joint_XY=0.667958;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=33923;gnomADv4_1_nhomalt_joint_XX=17139;gnomADv4_1_nhomalt_joint_XY=16784;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28475082 chr22_28475082_A_G A G 51 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.442;CADD_Rawscore=-0.224191;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+154470T>C|||||||rs695659||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28475082A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+154470T>C|||||||rs695659||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28475082A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+154470T>C|||||||rs695659||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28475082A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+154470T>C|||||||rs695659||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28475082A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+154470T>C|||||||rs695659||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28475082A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+154470T>C|||||||rs695659||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28475082A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+154470T>C|||||||rs695659||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28475082A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+154470T>C|||||||rs695659||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28475082A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+154470T>C|||||||rs695659||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28475082A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+154470T>C|||||||rs695659||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28475082A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|40|44|-41|4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111335;gnomADv4_1_AC_joint_XX=57064;gnomADv4_1_AC_joint_XY=54271;gnomADv4_1_AF_grpmax_joint=0.851563;gnomADv4_1_AF_joint=0.755377;gnomADv4_1_AF_joint_XX=0.752764;gnomADv4_1_AF_joint_XY=0.758144;gnomADv4_1_AN_grpmax_joint=4608;gnomADv4_1_AN_joint=147390;gnomADv4_1_AN_joint_XX=75806;gnomADv4_1_AN_joint_XY=71584;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=42164;gnomADv4_1_nhomalt_joint_XX=21559;gnomADv4_1_nhomalt_joint_XY=20605;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28475149 chr22_28475149_CA_C CA C 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=11;CADDIndel_PHREDscore=0.413;CADDIndel_Rawscore=-0.241007;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+154402del|||||||rs386395148||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28475172del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+154402del|||||||rs386395148||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28475172del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+154402del|||||||rs386395148||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28475172del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+154402del|||||||rs386395148||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28475172del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+154402del|||||||rs386395148||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28475172del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+154402del|||||||rs386395148||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28475172del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+154402del|||||||rs386395148||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28475172del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+154402del|||||||rs386395148||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28475172del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+154402del|||||||rs386395148||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28475172del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+154402del|||||||rs386395148||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28475172del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-9|-3|4|-3;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24615;gnomADv4_1_AC_joint_XX=13502;gnomADv4_1_AC_joint_XY=11113;gnomADv4_1_AF_grpmax_joint=0.458974;gnomADv4_1_AF_joint=0.376077;gnomADv4_1_AF_joint_XX=0.37652;gnomADv4_1_AF_joint_XY=0.375541;gnomADv4_1_AN_grpmax_joint=1560;gnomADv4_1_AN_joint=65452;gnomADv4_1_AN_joint_XX=35860;gnomADv4_1_AN_joint_XY=29592;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=867;gnomADv4_1_nhomalt_joint_XX=360;gnomADv4_1_nhomalt_joint_XY=507;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28475321 chr22_28475321_A_G A G 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=8.892;CADD_Rawscore=0.862908;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+154231T>C|||||||rs11090535||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28475321A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+154231T>C|||||||rs11090535||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28475321A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+154231T>C|||||||rs11090535||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28475321A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+154231T>C|||||||rs11090535||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28475321A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+154231T>C|||||||rs11090535||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28475321A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+154231T>C|||||||rs11090535||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28475321A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+154231T>C|||||||rs11090535||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28475321A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+154231T>C|||||||rs11090535||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28475321A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+154231T>C|||||||rs11090535||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28475321A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+154231T>C|||||||rs11090535||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28475321A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|30|-46|-20|18;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28872;gnomADv4_1_AC_joint_XX=14370;gnomADv4_1_AC_joint_XY=14502;gnomADv4_1_AF_grpmax_joint=0.38389;gnomADv4_1_AF_joint=0.189895;gnomADv4_1_AF_joint_XX=0.184914;gnomADv4_1_AF_joint_XY=0.195103;gnomADv4_1_AN_grpmax_joint=15270;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=3500;gnomADv4_1_nhomalt_joint_XX=1659;gnomADv4_1_nhomalt_joint_XY=1841;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28475582 chr22_28475582_G_A G A 60 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.316;CADD_Rawscore=-0.308875;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+153970C>T|||||||rs9613630||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28475582G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+153970C>T|||||||rs9613630||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28475582G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+153970C>T|||||||rs9613630||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28475582G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+153970C>T|||||||rs9613630||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28475582G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+153970C>T|||||||rs9613630||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28475582G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+153970C>T|||||||rs9613630||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28475582G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+153970C>T|||||||rs9613630||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28475582G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+153970C>T|||||||rs9613630||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28475582G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+153970C>T|||||||rs9613630||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28475582G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+153970C>T|||||||rs9613630||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28475582G>A|||1||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|2|-4|2|-21;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39955;gnomADv4_1_AC_joint_XX=20421;gnomADv4_1_AC_joint_XY=19534;gnomADv4_1_AF_grpmax_joint=0.38543;gnomADv4_1_AF_joint=0.26271;gnomADv4_1_AF_joint_XX=0.262677;gnomADv4_1_AF_joint_XY=0.262744;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6575;gnomADv4_1_nhomalt_joint_XX=3365;gnomADv4_1_nhomalt_joint_XY=3210;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28478101 chr22_28478101_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=6.548;CADD_Rawscore=0.609711;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+151451T>C|||||||rs5762654||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28478101A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+151451T>C|||||||rs5762654||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28478101A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+151451T>C|||||||rs5762654||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28478101A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+151451T>C|||||||rs5762654||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28478101A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+151451T>C|||||||rs5762654||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28478101A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+151451T>C|||||||rs5762654||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28478101A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+151451T>C|||||||rs5762654||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28478101A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+151451T>C|||||||rs5762654||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28478101A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+151451T>C|||||||rs5762654||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28478101A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+151451T>C|||||||rs5762654||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28478101A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|43|-21|43|-21;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41208;gnomADv4_1_AC_joint_XX=21127;gnomADv4_1_AC_joint_XY=20081;gnomADv4_1_AF_grpmax_joint=0.40411;gnomADv4_1_AF_joint=0.270849;gnomADv4_1_AF_joint_XX=0.271611;gnomADv4_1_AF_joint_XY=0.270051;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6980;gnomADv4_1_nhomalt_joint_XX=3606;gnomADv4_1_nhomalt_joint_XY=3374;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28480182 chr22_28480182_C_G C G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=15.05;CADD_Rawscore=1.65384;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+149370G>C|||||||rs6005790||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28480182C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+149370G>C|||||||rs6005790||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28480182C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+149370G>C|||||||rs6005790||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28480182C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+149370G>C|||||||rs6005790||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28480182C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+149370G>C|||||||rs6005790||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28480182C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+149370G>C|||||||rs6005790||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28480182C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+149370G>C|||||||rs6005790||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28480182C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+149370G>C|||||||rs6005790||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28480182C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+149370G>C|||||||rs6005790||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28480182C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+149370G>C|||||||rs6005790||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28480182C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FB7R|enhancer||||||||||rs6005790|||||||||||||||||||||chr22:g.28480182C>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-25|-7|-43|5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,ENSR22_9FB7R;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84190;gnomADv4_1_AC_joint_XX=43179;gnomADv4_1_AC_joint_XY=41011;gnomADv4_1_AF_grpmax_joint=0.603783;gnomADv4_1_AF_joint=0.553918;gnomADv4_1_AF_joint_XX=0.555757;gnomADv4_1_AF_joint_XY=0.551995;gnomADv4_1_AN_grpmax_joint=41452;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23809;gnomADv4_1_nhomalt_joint_XX=12186;gnomADv4_1_nhomalt_joint_XY=11623;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28481347 chr22_28481347_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.666;CADD_Rawscore=0.115754;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+148205G>A|||||||rs5762656||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28481347C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+148205G>A|||||||rs5762656||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28481347C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+148205G>A|||||||rs5762656||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28481347C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+148205G>A|||||||rs5762656||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28481347C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+148205G>A|||||||rs5762656||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28481347C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+148205G>A|||||||rs5762656||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28481347C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+148205G>A|||||||rs5762656||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28481347C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+148205G>A|||||||rs5762656||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28481347C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+148205G>A|||||||rs5762656||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28481347C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+148205G>A|||||||rs5762656||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28481347C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|6|-9|-1|-38;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39794;gnomADv4_1_AC_joint_XX=20349;gnomADv4_1_AC_joint_XY=19445;gnomADv4_1_AF_grpmax_joint=0.373289;gnomADv4_1_AF_joint=0.261792;gnomADv4_1_AF_joint_XX=0.261858;gnomADv4_1_AF_joint_XY=0.261723;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6515;gnomADv4_1_nhomalt_joint_XX=3343;gnomADv4_1_nhomalt_joint_XY=3172;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28481727 chr22_28481727_G_T G T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=11.6;CADD_Rawscore=1.12511;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+147825C>A|||||||rs737622||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28481727G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+147825C>A|||||||rs737622||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28481727G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+147825C>A|||||||rs737622||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28481727G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+147825C>A|||||||rs737622||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28481727G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+147825C>A|||||||rs737622||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28481727G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+147825C>A|||||||rs737622||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28481727G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+147825C>A|||||||rs737622||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28481727G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+147825C>A|||||||rs737622||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28481727G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+147825C>A|||||||rs737622||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28481727G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+147825C>A|||||||rs737622||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28481727G>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|26|-5|-11|7;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77912;gnomADv4_1_AC_joint_XX=39897;gnomADv4_1_AC_joint_XY=38015;gnomADv4_1_AF_grpmax_joint=0.573211;gnomADv4_1_AF_joint=0.512835;gnomADv4_1_AF_joint_XX=0.51366;gnomADv4_1_AF_joint_XY=0.511973;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=151924;gnomADv4_1_AN_joint_XX=77672;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=20401;gnomADv4_1_nhomalt_joint_XX=10404;gnomADv4_1_nhomalt_joint_XY=9997;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28482207 chr22_28482207_CTT_C CTT C 19 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=19;CADDIndel_PHREDscore=2.448;CADDIndel_Rawscore=0.218023;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+147343_381+147344del|||||||rs36011379||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||TT|TT||||chr22:g.28482232_28482233del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+147343_381+147344del|||||||rs36011379||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||TT|TT||||chr22:g.28482232_28482233del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+147343_381+147344del|||||||rs36011379||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||TT|TT||||chr22:g.28482232_28482233del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+147343_303+147344del|||||||rs36011379||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||TT|TT||||chr22:g.28482232_28482233del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+147343_381+147344del|||||||rs36011379||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||TT|TT||||chr22:g.28482232_28482233del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+147343_381+147344del|||||||rs36011379||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||TT|TT||||chr22:g.28482232_28482233del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+147343_381+147344del|||||||rs36011379||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||TT|TT||||chr22:g.28482232_28482233del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+147343_291+147344del|||||||rs36011379||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||TT|TT||||chr22:g.28482232_28482233del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+147343_303+147344del|||||||rs36011379||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||TT|TT||||chr22:g.28482232_28482233del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+147343_75+147344del|||||||rs36011379||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||TT|TT||||chr22:g.28482232_28482233del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-25|3|22|16;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19682;gnomADv4_1_AC_joint_XX=11139;gnomADv4_1_AC_joint_XY=8543;gnomADv4_1_AF_grpmax_joint=0.337578;gnomADv4_1_AF_joint=0.306001;gnomADv4_1_AF_joint_XX=0.308508;gnomADv4_1_AF_joint_XY=0.302793;gnomADv4_1_AN_grpmax_joint=37070;gnomADv4_1_AN_joint=64320;gnomADv4_1_AN_joint_XX=36106;gnomADv4_1_AN_joint_XY=28214;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=299;gnomADv4_1_nhomalt_joint_XX=131;gnomADv4_1_nhomalt_joint_XY=168;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28484833 chr22_28484833_T_C T C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=8.572;CADD_Rawscore=0.830124;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+144719A>G|||||||rs695475||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28484833T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+144719A>G|||||||rs695475||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28484833T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+144719A>G|||||||rs695475||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28484833T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+144719A>G|||||||rs695475||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28484833T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+144719A>G|||||||rs695475||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28484833T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+144719A>G|||||||rs695475||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28484833T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+144719A>G|||||||rs695475||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28484833T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+144719A>G|||||||rs695475||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28484833T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+144719A>G|||||||rs695475||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28484833T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+144719A>G|||||||rs695475||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28484833T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-1|-22|-42|28;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152351;gnomADv4_1_AC_joint_XX=77844;gnomADv4_1_AC_joint_XY=74507;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999928;gnomADv4_1_AF_joint_XX=0.999923;gnomADv4_1_AF_joint_XY=0.999933;gnomADv4_1_AN_grpmax_joint=68038;gnomADv4_1_AN_joint=152362;gnomADv4_1_AN_joint_XX=77850;gnomADv4_1_AN_joint_XY=74512;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76170;gnomADv4_1_nhomalt_joint_XX=38919;gnomADv4_1_nhomalt_joint_XY=37251;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28486854 chr22_28486854_A_T A T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=4.394;CADD_Rawscore=0.400391;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+142698T>A|||||||rs695700||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28486854A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+142698T>A|||||||rs695700||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28486854A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+142698T>A|||||||rs695700||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28486854A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+142698T>A|||||||rs695700||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28486854A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+142698T>A|||||||rs695700||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28486854A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+142698T>A|||||||rs695700||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28486854A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+142698T>A|||||||rs695700||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28486854A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+142698T>A|||||||rs695700||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28486854A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+142698T>A|||||||rs695700||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28486854A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+142698T>A|||||||rs695700||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28486854A>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-21|-42|-43|7;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81985;gnomADv4_1_AC_joint_XX=42052;gnomADv4_1_AC_joint_XY=39933;gnomADv4_1_AF_grpmax_joint=0.582158;gnomADv4_1_AF_joint=0.53895;gnomADv4_1_AF_joint_XX=0.540764;gnomADv4_1_AF_joint_XY=0.537051;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=22522;gnomADv4_1_nhomalt_joint_XX=11520;gnomADv4_1_nhomalt_joint_XY=11002;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28486985 chr22_28486985_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.878;CADD_Rawscore=-0.05145;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+142567C>T|||||||rs695318||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28486985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+142567C>T|||||||rs695318||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28486985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+142567C>T|||||||rs695318||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28486985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+142567C>T|||||||rs695318||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28486985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+142567C>T|||||||rs695318||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28486985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+142567C>T|||||||rs695318||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28486985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+142567C>T|||||||rs695318||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28486985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+142567C>T|||||||rs695318||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28486985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+142567C>T|||||||rs695318||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28486985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+142567C>T|||||||rs695318||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28486985G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|7|-29|7|-29;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81911;gnomADv4_1_AC_joint_XX=42015;gnomADv4_1_AC_joint_XY=39896;gnomADv4_1_AF_grpmax_joint=0.582504;gnomADv4_1_AF_joint=0.538874;gnomADv4_1_AF_joint_XX=0.540594;gnomADv4_1_AF_joint_XY=0.537074;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152004;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=22485;gnomADv4_1_nhomalt_joint_XX=11496;gnomADv4_1_nhomalt_joint_XY=10989;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28489303 chr22_28489303_TA_T TA T 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.052;CADDIndel_Rawscore=-0.787858;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+140248del|||||||rs11336895||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28489315del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+140248del|||||||rs11336895||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28489315del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+140248del|||||||rs11336895||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28489315del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+140248del|||||||rs11336895||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28489315del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+140248del|||||||rs11336895||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28489315del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+140248del|||||||rs11336895||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28489315del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+140248del|||||||rs11336895||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28489315del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+140248del|||||||rs11336895||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28489315del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+140248del|||||||rs11336895||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28489315del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+140248del|||||||rs11336895||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28489315del|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-27|-21|-21|20;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=115959;gnomADv4_1_AC_joint_XX=59491;gnomADv4_1_AC_joint_XY=56468;gnomADv4_1_AF_grpmax_joint=0.849292;gnomADv4_1_AF_joint=0.78283;gnomADv4_1_AF_joint_XX=0.781522;gnomADv4_1_AF_joint_XY=0.784212;gnomADv4_1_AN_grpmax_joint=4658;gnomADv4_1_AN_joint=148128;gnomADv4_1_AN_joint_XX=76122;gnomADv4_1_AN_joint_XY=72006;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=45412;gnomADv4_1_nhomalt_joint_XX=23299;gnomADv4_1_nhomalt_joint_XY=22113;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28490128 chr22_28490128_A_G A G 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.996;CADD_Rawscore=0.163444;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+139424T>C|||||||rs695762||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28490128A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+139424T>C|||||||rs695762||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28490128A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+139424T>C|||||||rs695762||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28490128A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+139424T>C|||||||rs695762||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28490128A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+139424T>C|||||||rs695762||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28490128A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+139424T>C|||||||rs695762||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28490128A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+139424T>C|||||||rs695762||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28490128A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+139424T>C|||||||rs695762||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28490128A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+139424T>C|||||||rs695762||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28490128A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+139424T>C|||||||rs695762||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28490128A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-42|-30|-46|28;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=114801;gnomADv4_1_AC_joint_XX=58483;gnomADv4_1_AC_joint_XY=56318;gnomADv4_1_AF_grpmax_joint=0.85102;gnomADv4_1_AF_joint=0.75523;gnomADv4_1_AF_joint_XX=0.752696;gnomADv4_1_AF_joint_XY=0.757879;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=43528;gnomADv4_1_nhomalt_joint_XX=22124;gnomADv4_1_nhomalt_joint_XY=21404;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28490817 chr22_28490817_C_T C T 59 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=6.006;CADD_Rawscore=0.553774;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+138735G>A|||||||rs2346397||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28490817C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+138735G>A|||||||rs2346397||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28490817C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+138735G>A|||||||rs2346397||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28490817C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+138735G>A|||||||rs2346397||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28490817C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+138735G>A|||||||rs2346397||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28490817C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+138735G>A|||||||rs2346397||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28490817C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+138735G>A|||||||rs2346397||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28490817C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+138735G>A|||||||rs2346397||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28490817C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+138735G>A|||||||rs2346397||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28490817C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+138735G>A|||||||rs2346397||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28490817C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|4|-1|-6|6;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=102346;gnomADv4_1_AC_joint_XX=52128;gnomADv4_1_AC_joint_XY=50218;gnomADv4_1_AF_grpmax_joint=0.802993;gnomADv4_1_AF_joint=0.673497;gnomADv4_1_AF_joint_XX=0.671009;gnomADv4_1_AF_joint_XY=0.6761;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=151962;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=34696;gnomADv4_1_nhomalt_joint_XX=17563;gnomADv4_1_nhomalt_joint_XY=17133;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28493747 chr22_28493747_C_A C A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.679;CADD_Rawscore=-0.116584;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+135805G>T|||||||rs695567||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28493747C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+135805G>T|||||||rs695567||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28493747C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+135805G>T|||||||rs695567||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28493747C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+135805G>T|||||||rs695567||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28493747C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+135805G>T|||||||rs695567||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28493747C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+135805G>T|||||||rs695567||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28493747C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+135805G>T|||||||rs695567||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28493747C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+135805G>T|||||||rs695567||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28493747C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+135805G>T|||||||rs695567||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28493747C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+135805G>T|||||||rs695567||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28493747C>A|||1||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-31|33|8|-19;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=83068;gnomADv4_1_AC_joint_XX=42586;gnomADv4_1_AC_joint_XY=40482;gnomADv4_1_AF_grpmax_joint=0.583921;gnomADv4_1_AF_joint=0.546932;gnomADv4_1_AF_joint_XX=0.548421;gnomADv4_1_AF_joint_XY=0.545374;gnomADv4_1_AN_grpmax_joint=41420;gnomADv4_1_AN_joint=151880;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23171;gnomADv4_1_nhomalt_joint_XX=11840;gnomADv4_1_nhomalt_joint_XY=11331;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28495635 chr22_28495635_G_C G C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.803;CADD_Rawscore=0.136572;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+133917C>G|||||||rs5762659||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28495635G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+133917C>G|||||||rs5762659||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28495635G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+133917C>G|||||||rs5762659||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28495635G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+133917C>G|||||||rs5762659||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28495635G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+133917C>G|||||||rs5762659||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28495635G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+133917C>G|||||||rs5762659||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28495635G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+133917C>G|||||||rs5762659||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28495635G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+133917C>G|||||||rs5762659||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28495635G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+133917C>G|||||||rs5762659||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28495635G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+133917C>G|||||||rs5762659||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28495635G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-35|-5|-23|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39910;gnomADv4_1_AC_joint_XX=20413;gnomADv4_1_AC_joint_XY=19497;gnomADv4_1_AF_grpmax_joint=0.38428;gnomADv4_1_AF_joint=0.262448;gnomADv4_1_AF_joint_XX=0.262594;gnomADv4_1_AF_joint_XY=0.262296;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6559;gnomADv4_1_nhomalt_joint_XX=3367;gnomADv4_1_nhomalt_joint_XY=3192;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28496985 chr22_28496985_G_A G A 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.366;CADD_Rawscore=0.063528;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+132567C>T|||||||rs9613635||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28496985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+132567C>T|||||||rs9613635||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28496985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+132567C>T|||||||rs9613635||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28496985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+132567C>T|||||||rs9613635||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28496985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+132567C>T|||||||rs9613635||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28496985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+132567C>T|||||||rs9613635||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28496985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+132567C>T|||||||rs9613635||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28496985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+132567C>T|||||||rs9613635||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28496985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+132567C>T|||||||rs9613635||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28496985G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+132567C>T|||||||rs9613635||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28496985G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-5|-22|34|-14;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4920;gnomADv4_1_AC_joint_XX=2498;gnomADv4_1_AC_joint_XY=2422;gnomADv4_1_AF_grpmax_joint=0.0477178;gnomADv4_1_AF_joint=0.0323812;gnomADv4_1_AF_joint_XX=0.0321534;gnomADv4_1_AF_joint_XY=0.0326195;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=151940;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=145;gnomADv4_1_nhomalt_joint_XX=73;gnomADv4_1_nhomalt_joint_XY=72;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28497220 chr22_28497220_G_T G T 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.67;CADD_Rawscore=0.116353;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+132332C>A|||||||rs5762660||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28497220G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+132332C>A|||||||rs5762660||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28497220G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+132332C>A|||||||rs5762660||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28497220G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+132332C>A|||||||rs5762660||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28497220G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+132332C>A|||||||rs5762660||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28497220G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+132332C>A|||||||rs5762660||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28497220G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+132332C>A|||||||rs5762660||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28497220G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+132332C>A|||||||rs5762660||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28497220G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+132332C>A|||||||rs5762660||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28497220G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+132332C>A|||||||rs5762660||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28497220G>T|||1||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|19|-3|-45|47;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91050;gnomADv4_1_AC_joint_XX=46339;gnomADv4_1_AC_joint_XY=44711;gnomADv4_1_AF_grpmax_joint=0.727254;gnomADv4_1_AF_joint=0.599265;gnomADv4_1_AF_joint_XX=0.596522;gnomADv4_1_AF_joint_XY=0.602136;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=151936;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=27792;gnomADv4_1_nhomalt_joint_XX=14089;gnomADv4_1_nhomalt_joint_XY=13703;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28497870 chr22_28497870_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.359;CADD_Rawscore=-0.276577;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+131682T>C|||||||rs695546||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28497870A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+131682T>C|||||||rs695546||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28497870A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+131682T>C|||||||rs695546||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28497870A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+131682T>C|||||||rs695546||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28497870A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+131682T>C|||||||rs695546||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28497870A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+131682T>C|||||||rs695546||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28497870A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+131682T>C|||||||rs695546||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28497870A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+131682T>C|||||||rs695546||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28497870A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+131682T>C|||||||rs695546||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28497870A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+131682T>C|||||||rs695546||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28497870A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|20|-15|-20|33;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149784;gnomADv4_1_AC_joint_XX=76497;gnomADv4_1_AC_joint_XY=73287;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.984023;gnomADv4_1_AF_joint_XX=0.983302;gnomADv4_1_AF_joint_XY=0.984776;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152216;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73746;gnomADv4_1_nhomalt_joint_XX=37637;gnomADv4_1_nhomalt_joint_XY=36109;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28499682 chr22_28499682_T_C T C 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=7.545;CADD_Rawscore=0.717978;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+129870A>G|||||||rs9613637||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28499682T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+129870A>G|||||||rs9613637||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28499682T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+129870A>G|||||||rs9613637||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28499682T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+129870A>G|||||||rs9613637||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28499682T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+129870A>G|||||||rs9613637||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28499682T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+129870A>G|||||||rs9613637||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28499682T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+129870A>G|||||||rs9613637||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28499682T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+129870A>G|||||||rs9613637||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28499682T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+129870A>G|||||||rs9613637||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28499682T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+129870A>G|||||||rs9613637||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28499682T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-1|-23|-31|27;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5049;gnomADv4_1_AC_joint_XX=2539;gnomADv4_1_AC_joint_XY=2510;gnomADv4_1_AF_grpmax_joint=0.0484046;gnomADv4_1_AF_joint=0.0331534;gnomADv4_1_AF_joint_XX=0.0326182;gnomADv4_1_AF_joint_XY=0.033713;gnomADv4_1_AN_grpmax_joint=68010;gnomADv4_1_AN_joint=152292;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=159;gnomADv4_1_nhomalt_joint_XX=78;gnomADv4_1_nhomalt_joint_XY=81;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28499800 chr22_28499800_A_C A C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.472;CADD_Rawscore=0.083245;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+129752T>G|||||||rs1997958||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28499800A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+129752T>G|||||||rs1997958||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28499800A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+129752T>G|||||||rs1997958||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28499800A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+129752T>G|||||||rs1997958||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28499800A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+129752T>G|||||||rs1997958||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28499800A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+129752T>G|||||||rs1997958||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28499800A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+129752T>G|||||||rs1997958||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28499800A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+129752T>G|||||||rs1997958||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28499800A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+129752T>G|||||||rs1997958||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28499800A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+129752T>G|||||||rs1997958||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28499800A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-34|-5|35|45;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25232;gnomADv4_1_AC_joint_XX=13263;gnomADv4_1_AC_joint_XY=11969;gnomADv4_1_AF_grpmax_joint=0.251097;gnomADv4_1_AF_joint=0.165865;gnomADv4_1_AF_joint_XX=0.170554;gnomADv4_1_AF_joint_XY=0.16096;gnomADv4_1_AN_grpmax_joint=67942;gnomADv4_1_AN_joint=152124;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2883;gnomADv4_1_nhomalt_joint_XX=1517;gnomADv4_1_nhomalt_joint_XY=1366;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28502359 chr22_28502359_G_C G C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.128;CADD_Rawscore=0.180365;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+127193C>G|||||||rs7286920||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28502359G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+127193C>G|||||||rs7286920||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28502359G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+127193C>G|||||||rs7286920||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28502359G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+127193C>G|||||||rs7286920||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28502359G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+127193C>G|||||||rs7286920||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28502359G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+127193C>G|||||||rs7286920||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28502359G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+127193C>G|||||||rs7286920||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28502359G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+127193C>G|||||||rs7286920||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28502359G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+127193C>G|||||||rs7286920||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28502359G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+127193C>G|||||||rs7286920||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28502359G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-14|-25|37|22;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41120;gnomADv4_1_AC_joint_XX=21094;gnomADv4_1_AC_joint_XY=20026;gnomADv4_1_AF_grpmax_joint=0.400685;gnomADv4_1_AF_joint=0.270548;gnomADv4_1_AF_joint_XX=0.27141;gnomADv4_1_AF_joint_XY=0.269645;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151988;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6945;gnomADv4_1_nhomalt_joint_XX=3596;gnomADv4_1_nhomalt_joint_XY=3349;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28502476 chr22_28502476_T_TA T TA 49 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=1.61;CADDIndel_Rawscore=0.106778;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+127075dup|||||||rs695536||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28502489dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+127075dup|||||||rs695536||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28502489dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+127075dup|||||||rs695536||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28502489dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+127075dup|||||||rs695536||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28502489dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+127075dup|||||||rs695536||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28502489dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+127075dup|||||||rs695536||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28502489dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+127075dup|||||||rs695536||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28502489dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+127075dup|||||||rs695536||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28502489dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+127075dup|||||||rs695536||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28502489dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+127075dup|||||||rs695536||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28502489dup|||||||||||||;SpliceAI=TA|TTC28|0.00|0.00|0.00|0.00|-2|-7|35|28;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=110610;gnomADv4_1_AC_joint_XX=56899;gnomADv4_1_AC_joint_XY=53711;gnomADv4_1_AF_grpmax_joint=0.847566;gnomADv4_1_AF_joint=0.761987;gnomADv4_1_AF_joint_XX=0.760357;gnomADv4_1_AF_joint_XY=0.763721;gnomADv4_1_AN_grpmax_joint=4520;gnomADv4_1_AN_joint=145160;gnomADv4_1_AN_joint_XX=74832;gnomADv4_1_AN_joint_XY=70328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=42030;gnomADv4_1_nhomalt_joint_XX=21618;gnomADv4_1_nhomalt_joint_XY=20412;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28503760 chr22_28503760_G_T G T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=15.92;CADD_Rawscore=1.82456;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+125792C>A|||||||rs695267||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28503760G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+125792C>A|||||||rs695267||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28503760G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+125792C>A|||||||rs695267||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28503760G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+125792C>A|||||||rs695267||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28503760G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+125792C>A|||||||rs695267||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28503760G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+125792C>A|||||||rs695267||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28503760G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+125792C>A|||||||rs695267||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28503760G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+125792C>A|||||||rs695267||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28503760G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+125792C>A|||||||rs695267||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28503760G>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+125792C>A|||||||rs695267||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28503760G>T|||1||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-4|41|-3|-37;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=63387;gnomADv4_1_AC_joint_XX=32612;gnomADv4_1_AC_joint_XY=30775;gnomADv4_1_AF_grpmax_joint=0.48005;gnomADv4_1_AF_joint=0.417113;gnomADv4_1_AF_joint_XX=0.419663;gnomADv4_1_AF_joint_XY=0.414445;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=151966;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=13531;gnomADv4_1_nhomalt_joint_XX=6972;gnomADv4_1_nhomalt_joint_XY=6559;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28504013 chr22_28504013_T_C T C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.188;CADD_Rawscore=-0.442981;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+125539A>G|||||||rs5762664||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28504013T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+125539A>G|||||||rs5762664||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28504013T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+125539A>G|||||||rs5762664||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28504013T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+125539A>G|||||||rs5762664||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28504013T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+125539A>G|||||||rs5762664||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28504013T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+125539A>G|||||||rs5762664||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28504013T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+125539A>G|||||||rs5762664||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28504013T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+125539A>G|||||||rs5762664||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28504013T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+125539A>G|||||||rs5762664||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28504013T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+125539A>G|||||||rs5762664||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28504013T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|3|8|-17|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13159;gnomADv4_1_AC_joint_XX=6682;gnomADv4_1_AC_joint_XY=6477;gnomADv4_1_AF_grpmax_joint=0.197279;gnomADv4_1_AF_joint=0.086403;gnomADv4_1_AF_joint_XX=0.0858604;gnomADv4_1_AF_joint_XY=0.0869699;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152298;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74474;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=733;gnomADv4_1_nhomalt_joint_XX=359;gnomADv4_1_nhomalt_joint_XY=374;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28504985 chr22_28504985_G_T G T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.1;CADD_Rawscore=0.176897;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+124567C>A|||||||rs9306458||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28504985G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+124567C>A|||||||rs9306458||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28504985G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+124567C>A|||||||rs9306458||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28504985G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+124567C>A|||||||rs9306458||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28504985G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+124567C>A|||||||rs9306458||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28504985G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+124567C>A|||||||rs9306458||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28504985G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+124567C>A|||||||rs9306458||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28504985G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+124567C>A|||||||rs9306458||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28504985G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+124567C>A|||||||rs9306458||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28504985G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+124567C>A|||||||rs9306458||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28504985G>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|9|-1|9;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39855;gnomADv4_1_AC_joint_XX=20392;gnomADv4_1_AC_joint_XY=19463;gnomADv4_1_AF_grpmax_joint=0.38764;gnomADv4_1_AF_joint=0.262487;gnomADv4_1_AF_joint_XX=0.262533;gnomADv4_1_AF_joint_XY=0.262439;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=151836;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74162;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6564;gnomADv4_1_nhomalt_joint_XX=3377;gnomADv4_1_nhomalt_joint_XY=3187;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28505256 chr22_28505256_C_CA C CA 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=42;CADDIndel_PHREDscore=3.738;CADDIndel_Rawscore=0.342013;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+124295dup|||||||rs35503278||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28505278dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+124295dup|||||||rs35503278||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28505278dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+124295dup|||||||rs35503278||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28505278dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+124295dup|||||||rs35503278||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28505278dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+124295dup|||||||rs35503278||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28505278dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+124295dup|||||||rs35503278||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28505278dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+124295dup|||||||rs35503278||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28505278dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+124295dup|||||||rs35503278||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28505278dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+124295dup|||||||rs35503278||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28505278dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+124295dup|||||||rs35503278||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28505278dup|||||||||||||;SpliceAI=CA|TTC28|0.00|0.00|0.00|0.00|-27|-3|2|50;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35913;gnomADv4_1_AC_joint_XX=19452;gnomADv4_1_AC_joint_XY=16461;gnomADv4_1_AF_grpmax_joint=0.565293;gnomADv4_1_AF_joint=0.481304;gnomADv4_1_AF_joint_XX=0.483231;gnomADv4_1_AF_joint_XY=0.479047;gnomADv4_1_AN_grpmax_joint=19512;gnomADv4_1_AN_joint=74616;gnomADv4_1_AN_joint_XX=40254;gnomADv4_1_AN_joint_XY=34362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7644;gnomADv4_1_nhomalt_joint_XX=4072;gnomADv4_1_nhomalt_joint_XY=3572;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28506051 chr22_28506051_G_GT G GT 50 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.526;CADDIndel_Rawscore=-0.180298;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+123500_381+123501insA|||||||rs56908373||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28506051_28506052insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+123500_381+123501insA|||||||rs56908373||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28506051_28506052insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+123500_381+123501insA|||||||rs56908373||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28506051_28506052insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+123500_303+123501insA|||||||rs56908373||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28506051_28506052insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+123500_381+123501insA|||||||rs56908373||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28506051_28506052insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+123500_381+123501insA|||||||rs56908373||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28506051_28506052insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+123500_381+123501insA|||||||rs56908373||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28506051_28506052insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+123500_291+123501insA|||||||rs56908373||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28506051_28506052insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+123500_303+123501insA|||||||rs56908373||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28506051_28506052insT|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+123500_75+123501insA|||||||rs56908373||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28506051_28506052insT|||||||||||||;SpliceAI=GT|TTC28|0.00|0.00|0.00|0.00|39|-37|36|26;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=106998;gnomADv4_1_AC_joint_XX=54644;gnomADv4_1_AC_joint_XY=52354;gnomADv4_1_AF_grpmax_joint=0.805843;gnomADv4_1_AF_joint=0.704064;gnomADv4_1_AF_joint_XX=0.703106;gnomADv4_1_AF_joint_XY=0.705066;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=151972;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=37812;gnomADv4_1_nhomalt_joint_XX=19270;gnomADv4_1_nhomalt_joint_XY=18542;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28507372 chr22_28507372_A_G A G 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.577;CADD_Rawscore=0.101335;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+122180T>C|||||||rs5762665||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28507372A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+122180T>C|||||||rs5762665||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28507372A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+122180T>C|||||||rs5762665||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28507372A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+122180T>C|||||||rs5762665||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28507372A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+122180T>C|||||||rs5762665||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28507372A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+122180T>C|||||||rs5762665||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28507372A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+122180T>C|||||||rs5762665||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28507372A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+122180T>C|||||||rs5762665||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28507372A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+122180T>C|||||||rs5762665||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28507372A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+122180T>C|||||||rs5762665||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28507372A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-49|33|-45|15;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90239;gnomADv4_1_AC_joint_XX=46080;gnomADv4_1_AC_joint_XY=44159;gnomADv4_1_AF_grpmax_joint=0.738283;gnomADv4_1_AF_joint=0.593623;gnomADv4_1_AF_joint_XX=0.592867;gnomADv4_1_AF_joint_XY=0.594414;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=27355;gnomADv4_1_nhomalt_joint_XX=13973;gnomADv4_1_nhomalt_joint_XY=13382;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28508565 chr22_28508565_G_A G A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.763;CADD_Rawscore=-0.087006;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+120987C>T|||||||rs9613639||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28508565G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+120987C>T|||||||rs9613639||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28508565G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+120987C>T|||||||rs9613639||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28508565G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+120987C>T|||||||rs9613639||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28508565G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+120987C>T|||||||rs9613639||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28508565G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+120987C>T|||||||rs9613639||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28508565G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+120987C>T|||||||rs9613639||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28508565G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+120987C>T|||||||rs9613639||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28508565G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+120987C>T|||||||rs9613639||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28508565G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+120987C>T|||||||rs9613639||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28508565G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-15|30|32|-31;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40977;gnomADv4_1_AC_joint_XX=21012;gnomADv4_1_AC_joint_XY=19965;gnomADv4_1_AF_grpmax_joint=0.389491;gnomADv4_1_AF_joint=0.269724;gnomADv4_1_AF_joint_XX=0.270425;gnomADv4_1_AF_joint_XY=0.26899;gnomADv4_1_AN_grpmax_joint=4796;gnomADv4_1_AN_joint=151922;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6906;gnomADv4_1_nhomalt_joint_XX=3568;gnomADv4_1_nhomalt_joint_XY=3338;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28510454 chr22_28510454_G_A G A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=4.892;CADD_Rawscore=0.445784;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+119098C>T|||||||rs9613640||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28510454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+119098C>T|||||||rs9613640||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28510454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+119098C>T|||||||rs9613640||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28510454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+119098C>T|||||||rs9613640||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28510454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+119098C>T|||||||rs9613640||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28510454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+119098C>T|||||||rs9613640||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28510454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+119098C>T|||||||rs9613640||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28510454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+119098C>T|||||||rs9613640||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28510454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+119098C>T|||||||rs9613640||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28510454G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+119098C>T|||||||rs9613640||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28510454G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||||||||||rs9613640|3144|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28510454G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068042.1|lncRNA||||||||||rs9613640|3144|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28510454G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||||||||||rs9613640|3144|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28510454G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068044.1|lncRNA||||||||||rs9613640|3144|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28510454G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-26|-5|-5|-33;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068042.1,XR_007068043.1,XR_007068044.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25060;gnomADv4_1_AC_joint_XX=13155;gnomADv4_1_AC_joint_XY=11905;gnomADv4_1_AF_grpmax_joint=0.248933;gnomADv4_1_AF_joint=0.164886;gnomADv4_1_AF_joint_XX=0.16927;gnomADv4_1_AF_joint_XY=0.160298;gnomADv4_1_AN_grpmax_joint=67918;gnomADv4_1_AN_joint=151984;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2824;gnomADv4_1_nhomalt_joint_XX=1486;gnomADv4_1_nhomalt_joint_XY=1338;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28512094 chr22_28512094_C_CAA C CAA 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.843;CADDIndel_Rawscore=-0.061758;CSQ=AA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+117456_381+117457dup|||||||rs58981075||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28512103_28512104dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+117456_381+117457dup|||||||rs58981075||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28512103_28512104dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+117456_381+117457dup|||||||rs58981075||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28512103_28512104dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+117456_303+117457dup|||||||rs58981075||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28512103_28512104dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+117456_381+117457dup|||||||rs58981075||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28512103_28512104dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+117456_381+117457dup|||||||rs58981075||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28512103_28512104dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+117456_381+117457dup|||||||rs58981075||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28512103_28512104dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+117456_291+117457dup|||||||rs58981075||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28512103_28512104dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+117456_303+117457dup|||||||rs58981075||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28512103_28512104dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+117456_75+117457dup|||||||rs58981075||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28512103_28512104dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||||||||||rs58981075|1503|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.28512103_28512104dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068042.1|lncRNA||||||||||rs58981075|1503|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.28512103_28512104dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||||||||||rs58981075|1503|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.28512103_28512104dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068044.1|lncRNA||||||||||rs58981075|1503|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.28512103_28512104dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068042.1,XR_007068043.1,XR_007068044.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6;gnomADv4_1_AC_joint_XX=4;gnomADv4_1_AC_joint_XY=2;gnomADv4_1_AF_grpmax_joint=7.0502e-05;gnomADv4_1_AF_joint=4.20976e-05;gnomADv4_1_AF_joint_XX=5.45524e-05;gnomADv4_1_AF_joint_XY=2.89009e-05;gnomADv4_1_AN_grpmax_joint=14184;gnomADv4_1_AN_joint=142526;gnomADv4_1_AN_joint_XX=73324;gnomADv4_1_AN_joint_XY=69202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28512979 chr22_28512979_A_AT A AT 43 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=2.758;CADDIndel_Rawscore=0.250721;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+116572dup|||||||rs695729||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28512999dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+116572dup|||||||rs695729||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28512999dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+116572dup|||||||rs695729||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28512999dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+116572dup|||||||rs695729||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28512999dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+116572dup|||||||rs695729||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28512999dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+116572dup|||||||rs695729||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28512999dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+116572dup|||||||rs695729||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28512999dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+116572dup|||||||rs695729||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28512999dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+116572dup|||||||rs695729||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28512999dup|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+116572dup|||||||rs695729||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28512999dup|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||||||||||rs695729|618|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.28512999dup|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068042.1|lncRNA||||||||||rs695729|618|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.28512999dup|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||||||||||rs695729|618|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.28512999dup|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068044.1|lncRNA||||||||||rs695729|618|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.28512999dup|||||||||||||;SpliceAI=AT|TTC28|0.00|0.00|0.00|0.00|-22|-44|39|-4;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068042.1,XR_007068043.1,XR_007068044.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62480;gnomADv4_1_AC_joint_XX=33212;gnomADv4_1_AC_joint_XY=29268;gnomADv4_1_AF_grpmax_joint=0.675214;gnomADv4_1_AF_joint=0.497539;gnomADv4_1_AF_joint_XX=0.497827;gnomADv4_1_AF_joint_XY=0.497214;gnomADv4_1_AN_grpmax_joint=234;gnomADv4_1_AN_joint=125578;gnomADv4_1_AN_joint_XX=66714;gnomADv4_1_AN_joint_XY=58864;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=16814;gnomADv4_1_nhomalt_joint_XX=8947;gnomADv4_1_nhomalt_joint_XY=7867;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28513516 chr22_28513516_A_T A T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=4.368;CADD_Rawscore=0.398067;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+116036T>A|||||||rs5762666||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28513516A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+116036T>A|||||||rs5762666||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28513516A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+116036T>A|||||||rs5762666||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28513516A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+116036T>A|||||||rs5762666||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28513516A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+116036T>A|||||||rs5762666||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28513516A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+116036T>A|||||||rs5762666||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28513516A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+116036T>A|||||||rs5762666||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28513516A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+116036T>A|||||||rs5762666||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28513516A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+116036T>A|||||||rs5762666||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28513516A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+116036T>A|||||||rs5762666||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28513516A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||||||||||rs5762666|82|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28513516A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068042.1|lncRNA||||||||||rs5762666|82|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28513516A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||||||||||rs5762666|82|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28513516A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068044.1|lncRNA||||||||||rs5762666|82|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28513516A>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|47|-14|-41|-14;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068042.1,XR_007068043.1,XR_007068044.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40245;gnomADv4_1_AC_joint_XX=20570;gnomADv4_1_AC_joint_XY=19675;gnomADv4_1_AF_grpmax_joint=0.391449;gnomADv4_1_AF_joint=0.264429;gnomADv4_1_AF_joint_XX=0.264389;gnomADv4_1_AF_joint_XY=0.26447;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152196;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6674;gnomADv4_1_nhomalt_joint_XX=3422;gnomADv4_1_nhomalt_joint_XY=3252;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28516867 chr22_28516867_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.099;CADD_Rawscore=0.006792;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+112685G>A|||||||rs695709||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28516867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+112685G>A|||||||rs695709||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28516867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+112685G>A|||||||rs695709||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28516867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+112685G>A|||||||rs695709||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28516867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+112685G>A|||||||rs695709||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28516867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+112685G>A|||||||rs695709||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28516867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+112685G>A|||||||rs695709||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28516867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+112685G>A|||||||rs695709||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28516867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+112685G>A|||||||rs695709||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28516867C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+112685G>A|||||||rs695709||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28516867C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||2/2|XR_007068041.1:n.19329+289G>A|||||||rs695709||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28516867C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068042.1|lncRNA||2/2|XR_007068042.1:n.1520+289G>A|||||||rs695709||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28516867C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||2/2|XR_007068043.1:n.2202+289G>A|||||||rs695709||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28516867C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068044.1|lncRNA||2/2|XR_007068044.1:n.2279+289G>A|||||||rs695709||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28516867C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-25|1|49|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068042.1,XR_007068043.1,XR_007068044.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69664;gnomADv4_1_AC_joint_XX=35776;gnomADv4_1_AC_joint_XY=33888;gnomADv4_1_AF_grpmax_joint=0.534261;gnomADv4_1_AF_joint=0.458352;gnomADv4_1_AF_joint_XX=0.460414;gnomADv4_1_AF_joint_XY=0.456195;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=151988;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=16584;gnomADv4_1_nhomalt_joint_XX=8549;gnomADv4_1_nhomalt_joint_XY=8035;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28520936 chr22_28520936_C_T C T 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.144;CADD_Rawscore=0.182395;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+108616G>A|||||||rs6005795||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28520936C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+108616G>A|||||||rs6005795||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28520936C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+108616G>A|||||||rs6005795||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28520936C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+108616G>A|||||||rs6005795||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28520936C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+108616G>A|||||||rs6005795||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28520936C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+108616G>A|||||||rs6005795||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28520936C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+108616G>A|||||||rs6005795||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28520936C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+108616G>A|||||||rs6005795||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28520936C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+108616G>A|||||||rs6005795||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28520936C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+108616G>A|||||||rs6005795||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28520936C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-1616G>A|||||||rs6005795||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28520936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068042.1|lncRNA||||||||||rs6005795|296|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28520936C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||1/2|XR_007068043.1:n.38-1616G>A|||||||rs6005795||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28520936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068044.1|lncRNA||||||||||rs6005795|296|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28520936C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-9|-42|-8|40;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068042.1,XR_007068043.1,XR_007068044.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49423;gnomADv4_1_AC_joint_XX=25442;gnomADv4_1_AC_joint_XY=23981;gnomADv4_1_AF_grpmax_joint=0.455312;gnomADv4_1_AF_joint=0.325314;gnomADv4_1_AF_joint_XX=0.327565;gnomADv4_1_AF_joint_XY=0.322959;gnomADv4_1_AN_grpmax_joint=41398;gnomADv4_1_AN_joint=151924;gnomADv4_1_AN_joint_XX=77670;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8614;gnomADv4_1_nhomalt_joint_XX=4515;gnomADv4_1_nhomalt_joint_XY=4099;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28521384 chr22_28521384_G_C G C 19 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=19;CADD_PHREDscore=11.06;CADD_Rawscore=1.06714;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+108168C>G|||||||rs2048905271||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28521384G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+108168C>G|||||||rs2048905271||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28521384G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+108168C>G|||||||rs2048905271||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28521384G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+108168C>G|||||||rs2048905271||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28521384G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+108168C>G|||||||rs2048905271||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28521384G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+108168C>G|||||||rs2048905271||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28521384G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+108168C>G|||||||rs2048905271||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28521384G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+108168C>G|||||||rs2048905271||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28521384G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+108168C>G|||||||rs2048905271||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28521384G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+108168C>G|||||||rs2048905271||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28521384G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-2064C>G|||||||rs2048905271||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28521384G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068042.1|lncRNA||||||||||rs2048905271|744|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28521384G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||1/2|XR_007068043.1:n.38-2064C>G|||||||rs2048905271||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28521384G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068044.1|lncRNA||||||||||rs2048905271|744|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28521384G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-1|27|45|27;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068042.1,XR_007068043.1,XR_007068044.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28522857 chr22_28522857_C_T C T 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.318;CADD_Rawscore=0.054219;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+106695G>A|||||||rs5762667||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28522857C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+106695G>A|||||||rs5762667||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28522857C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+106695G>A|||||||rs5762667||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28522857C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+106695G>A|||||||rs5762667||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28522857C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+106695G>A|||||||rs5762667||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28522857C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+106695G>A|||||||rs5762667||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28522857C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+106695G>A|||||||rs5762667||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28522857C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+106695G>A|||||||rs5762667||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28522857C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+106695G>A|||||||rs5762667||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28522857C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+106695G>A|||||||rs5762667||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28522857C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-3537G>A|||||||rs5762667||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28522857C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068042.1|lncRNA||||||||||rs5762667|2217|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28522857C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||1/2|XR_007068043.1:n.38-3537G>A|||||||rs5762667||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28522857C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068044.1|lncRNA||||||||||rs5762667|2217|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28522857C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-23|5|25|5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068042.1,XR_007068043.1,XR_007068044.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=150539;gnomADv4_1_AC_joint_XX=76977;gnomADv4_1_AC_joint_XY=73562;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.989633;gnomADv4_1_AF_joint_XX=0.98988;gnomADv4_1_AF_joint_XY=0.989375;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=74515;gnomADv4_1_nhomalt_joint_XX=38114;gnomADv4_1_nhomalt_joint_XY=36401;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28524319 chr22_28524319_G_C G C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.167;CADD_Rawscore=-0.475016;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+105233C>G|||||||rs5762668||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28524319G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+105233C>G|||||||rs5762668||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28524319G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+105233C>G|||||||rs5762668||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28524319G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+105233C>G|||||||rs5762668||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28524319G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+105233C>G|||||||rs5762668||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28524319G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+105233C>G|||||||rs5762668||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28524319G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+105233C>G|||||||rs5762668||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28524319G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+105233C>G|||||||rs5762668||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28524319G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+105233C>G|||||||rs5762668||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28524319G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+105233C>G|||||||rs5762668||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28524319G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-4999C>G|||||||rs5762668||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28524319G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068042.1|lncRNA||||||||||rs5762668|3679|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28524319G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||1/2|XR_007068043.1:n.37+4272C>G|||||||rs5762668||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28524319G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068044.1|lncRNA||||||||||rs5762668|3679|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28524319G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-33|-37|-26|4;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068042.1,XR_007068043.1,XR_007068044.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84159;gnomADv4_1_AC_joint_XX=42904;gnomADv4_1_AC_joint_XY=41255;gnomADv4_1_AF_grpmax_joint=0.678894;gnomADv4_1_AF_joint=0.55571;gnomADv4_1_AF_joint_XX=0.5536;gnomADv4_1_AF_joint_XY=0.557922;gnomADv4_1_AN_grpmax_joint=41248;gnomADv4_1_AN_joint=151444;gnomADv4_1_AN_joint_XX=77500;gnomADv4_1_AN_joint_XY=73944;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24241;gnomADv4_1_nhomalt_joint_XX=12317;gnomADv4_1_nhomalt_joint_XY=11924;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28524663 chr22_28524663_A_G A G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=9.253;CADD_Rawscore=0.899434;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+104889T>C|||||||rs5762670||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28524663A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+104889T>C|||||||rs5762670||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28524663A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+104889T>C|||||||rs5762670||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28524663A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+104889T>C|||||||rs5762670||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28524663A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+104889T>C|||||||rs5762670||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28524663A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+104889T>C|||||||rs5762670||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28524663A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+104889T>C|||||||rs5762670||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28524663A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+104889T>C|||||||rs5762670||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28524663A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+104889T>C|||||||rs5762670||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28524663A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+104889T>C|||||||rs5762670||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28524663A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-5343T>C|||||||rs5762670||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28524663A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068042.1|lncRNA||||||||||rs5762670|4023|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28524663A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||1/2|XR_007068043.1:n.37+3928T>C|||||||rs5762670||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28524663A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068044.1|lncRNA||||||||||rs5762670|4023|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28524663A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-3|-12|-34|-50;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068042.1,XR_007068043.1,XR_007068044.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70975;gnomADv4_1_AC_joint_XX=36183;gnomADv4_1_AC_joint_XY=34792;gnomADv4_1_AF_grpmax_joint=0.619822;gnomADv4_1_AF_joint=0.467193;gnomADv4_1_AF_joint_XX=0.46594;gnomADv4_1_AF_joint_XY=0.468503;gnomADv4_1_AN_grpmax_joint=15256;gnomADv4_1_AN_joint=151918;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=17040;gnomADv4_1_nhomalt_joint_XX=8610;gnomADv4_1_nhomalt_joint_XY=8430;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28525192 chr22_28525192_G_A G A 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.057;CADD_Rawscore=-0.763975;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+104360C>T|||||||rs981046785||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28525192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+104360C>T|||||||rs981046785||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28525192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+104360C>T|||||||rs981046785||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28525192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+104360C>T|||||||rs981046785||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28525192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+104360C>T|||||||rs981046785||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28525192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+104360C>T|||||||rs981046785||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28525192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+104360C>T|||||||rs981046785||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28525192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+104360C>T|||||||rs981046785||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28525192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+104360C>T|||||||rs981046785||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28525192G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+104360C>T|||||||rs981046785||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28525192G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-5872C>T|||||||rs981046785||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28525192G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068042.1|lncRNA||||||||||rs981046785|4552|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28525192G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||1/2|XR_007068043.1:n.37+3399C>T|||||||rs981046785||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28525192G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068044.1|lncRNA||||||||||rs981046785|4552|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28525192G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-26|3|43|-9;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068042.1,XR_007068043.1,XR_007068044.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42;gnomADv4_1_AC_joint_XX=9;gnomADv4_1_AC_joint_XY=33;gnomADv4_1_AF_grpmax_joint=0.00196515;gnomADv4_1_AF_joint=0.000276199;gnomADv4_1_AF_joint_XX=0.000115675;gnomADv4_1_AF_joint_XY=0.000444385;gnomADv4_1_AN_grpmax_joint=15266;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28525277 chr22_28525277_C_G C G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.388;CADD_Rawscore=-0.257064;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+104275G>C|||||||rs2881496||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28525277C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+104275G>C|||||||rs2881496||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28525277C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+104275G>C|||||||rs2881496||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28525277C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+104275G>C|||||||rs2881496||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28525277C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+104275G>C|||||||rs2881496||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28525277C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+104275G>C|||||||rs2881496||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28525277C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+104275G>C|||||||rs2881496||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28525277C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+104275G>C|||||||rs2881496||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28525277C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+104275G>C|||||||rs2881496||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28525277C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+104275G>C|||||||rs2881496||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28525277C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-5957G>C|||||||rs2881496||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28525277C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068042.1|lncRNA||||||||||rs2881496|4637|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28525277C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||1/2|XR_007068043.1:n.37+3314G>C|||||||rs2881496||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28525277C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068044.1|lncRNA||||||||||rs2881496|4637|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28525277C>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|6|38|44|-10;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068042.1,XR_007068043.1,XR_007068044.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129707;gnomADv4_1_AC_joint_XX=66319;gnomADv4_1_AC_joint_XY=63388;gnomADv4_1_AF_grpmax_joint=0.935374;gnomADv4_1_AF_joint=0.852819;gnomADv4_1_AF_joint_XX=0.852999;gnomADv4_1_AF_joint_XY=0.852631;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=55545;gnomADv4_1_nhomalt_joint_XX=28421;gnomADv4_1_nhomalt_joint_XY=27124;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28527329 chr22_28527329_G_A G A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.753;CADD_Rawscore=0.34329;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+102223C>T|||||||rs2144922||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28527329G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+102223C>T|||||||rs2144922||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28527329G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+102223C>T|||||||rs2144922||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28527329G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+102223C>T|||||||rs2144922||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28527329G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+102223C>T|||||||rs2144922||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28527329G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+102223C>T|||||||rs2144922||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28527329G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+102223C>T|||||||rs2144922||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28527329G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+102223C>T|||||||rs2144922||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28527329G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+102223C>T|||||||rs2144922||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28527329G>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+102223C>T|||||||rs2144922||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28527329G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-8009C>T|||||||rs2144922||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28527329G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||1/2|XR_007068043.1:n.37+1262C>T|||||||rs2144922||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28527329G>A|||1||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|2|-1|18|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068043.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129711;gnomADv4_1_AC_joint_XX=66324;gnomADv4_1_AC_joint_XY=63387;gnomADv4_1_AF_grpmax_joint=0.935374;gnomADv4_1_AF_joint=0.852924;gnomADv4_1_AF_joint_XX=0.853261;gnomADv4_1_AF_joint_XY=0.852572;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=55550;gnomADv4_1_nhomalt_joint_XX=28428;gnomADv4_1_nhomalt_joint_XY=27122;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28527945 chr22_28527945_C_T C T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.775;CADD_Rawscore=-0.08325;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+101607G>A|||||||rs2013784||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28527945C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+101607G>A|||||||rs2013784||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28527945C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+101607G>A|||||||rs2013784||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28527945C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+101607G>A|||||||rs2013784||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28527945C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+101607G>A|||||||rs2013784||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28527945C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+101607G>A|||||||rs2013784||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28527945C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+101607G>A|||||||rs2013784||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28527945C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+101607G>A|||||||rs2013784||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28527945C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+101607G>A|||||||rs2013784||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28527945C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+101607G>A|||||||rs2013784||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28527945C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-8625G>A|||||||rs2013784||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28527945C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||1/2|XR_007068043.1:n.37+646G>A|||||||rs2013784||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28527945C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|15|45|9|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068043.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129809;gnomADv4_1_AC_joint_XX=66362;gnomADv4_1_AC_joint_XY=63447;gnomADv4_1_AF_grpmax_joint=0.935374;gnomADv4_1_AF_joint=0.852828;gnomADv4_1_AF_joint_XX=0.853179;gnomADv4_1_AF_joint_XY=0.852461;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152210;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=55587;gnomADv4_1_nhomalt_joint_XX=28443;gnomADv4_1_nhomalt_joint_XY=27144;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28528737 chr22_28528737_T_TA T TA 28 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=28;CADDIndel_PHREDscore=0.179;CADDIndel_Rawscore=-0.455451;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+100814dup|||||||rs5844812||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28528756dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+100814dup|||||||rs5844812||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28528756dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+100814dup|||||||rs5844812||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28528756dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+100814dup|||||||rs5844812||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28528756dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+100814dup|||||||rs5844812||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28528756dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+100814dup|||||||rs5844812||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28528756dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+100814dup|||||||rs5844812||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28528756dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+100814dup|||||||rs5844812||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28528756dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+100814dup|||||||rs5844812||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28528756dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+100814dup|||||||rs5844812||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28528756dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-9418dup|||||||rs5844812||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.28528756dup|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||||||||||rs5844812|110|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.28528756dup|||||||||||||;SpliceAI=TA|TTC28|0.01|0.00|0.00|0.00|-9|-5|-9|1;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068043.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42137;gnomADv4_1_AC_joint_XX=23086;gnomADv4_1_AC_joint_XY=19051;gnomADv4_1_AF_grpmax_joint=0.545428;gnomADv4_1_AF_joint=0.468668;gnomADv4_1_AF_joint_XX=0.474279;gnomADv4_1_AF_joint_XY=0.462044;gnomADv4_1_AN_grpmax_joint=3368;gnomADv4_1_AN_joint=89908;gnomADv4_1_AN_joint_XX=48676;gnomADv4_1_AN_joint_XY=41232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8409;gnomADv4_1_nhomalt_joint_XX=4698;gnomADv4_1_nhomalt_joint_XY=3711;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28529251 chr22_28529251_C_CAGG C CAGG 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=1.58;CADDIndel_Rawscore=0.101759;CSQ=AGG|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+100300_381+100301insCCT|||||||rs58993277||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28529253_28529254insGAG|||||||||||||,AGG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+100300_381+100301insCCT|||||||rs58993277||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28529253_28529254insGAG|||||||||||||,AGG|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+100300_381+100301insCCT|||||||rs58993277||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28529253_28529254insGAG|||||||||||||,AGG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+100300_303+100301insCCT|||||||rs58993277||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28529253_28529254insGAG|||||||||||||,AGG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+100300_381+100301insCCT|||||||rs58993277||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28529253_28529254insGAG|||||||||||||,AGG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+100300_381+100301insCCT|||||||rs58993277||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28529253_28529254insGAG|||||||||||||,AGG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+100300_381+100301insCCT|||||||rs58993277||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28529253_28529254insGAG|||||||||||||,AGG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+100300_291+100301insCCT|||||||rs58993277||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28529253_28529254insGAG|||||||||||||,AGG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+100300_303+100301insCCT|||||||rs58993277||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28529253_28529254insGAG|||||||||||||,AGG|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+100300_75+100301insCCT|||||||rs58993277||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28529253_28529254insGAG|||||||||||||,AGG|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-9932_17165-9931insCCT|||||||rs58993277||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.28529253_28529254insGAG|||||||||||||,AGG|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||||||||||rs58993277|624|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.28529253_28529254insGAG|||||||||||||;TYPE=INDEL;VEP_Allele=AGG,AGG,AGG,AGG,AGG,AGG,AGG,AGG,AGG,AGG,AGG,AGG;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068043.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152192;gnomADv4_1_AC_joint_XX=77782;gnomADv4_1_AC_joint_XY=74410;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.99912;gnomADv4_1_AF_joint_XX=0.999229;gnomADv4_1_AF_joint_XY=0.999006;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152326;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74484;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=76030;gnomADv4_1_nhomalt_joint_XX=38861;gnomADv4_1_nhomalt_joint_XY=37169;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28529418 chr22_28529418_C_A C A 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.491;CADD_Rawscore=0.2227;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+100134G>T|||||||rs34320674||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28529418C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+100134G>T|||||||rs34320674||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28529418C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+100134G>T|||||||rs34320674||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28529418C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+100134G>T|||||||rs34320674||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28529418C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+100134G>T|||||||rs34320674||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28529418C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+100134G>T|||||||rs34320674||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28529418C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+100134G>T|||||||rs34320674||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28529418C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+100134G>T|||||||rs34320674||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28529418C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+100134G>T|||||||rs34320674||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28529418C>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+100134G>T|||||||rs34320674||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28529418C>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-10098G>T|||||||rs34320674||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28529418C>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||||||||||rs34320674|791|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28529418C>A|||1||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-37|-1|39|-47;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068043.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4977;gnomADv4_1_AC_joint_XX=2642;gnomADv4_1_AC_joint_XY=2335;gnomADv4_1_AF_grpmax_joint=0.0646259;gnomADv4_1_AF_joint=0.0326811;gnomADv4_1_AF_joint_XX=0.0339545;gnomADv4_1_AF_joint_XY=0.0313507;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152290;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74480;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=106;gnomADv4_1_nhomalt_joint_XX=59;gnomADv4_1_nhomalt_joint_XY=47;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28529554 chr22_28529554_T_A T A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.161;CADD_Rawscore=-0.484095;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+99998A>T|||||||rs5752754||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28529554T>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+99998A>T|||||||rs5752754||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28529554T>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+99998A>T|||||||rs5752754||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28529554T>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+99998A>T|||||||rs5752754||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28529554T>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+99998A>T|||||||rs5752754||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28529554T>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+99998A>T|||||||rs5752754||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28529554T>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+99998A>T|||||||rs5752754||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28529554T>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+99998A>T|||||||rs5752754||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28529554T>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+99998A>T|||||||rs5752754||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28529554T>A|||1||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+99998A>T|||||||rs5752754||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28529554T>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-10234A>T|||||||rs5752754||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28529554T>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||||||||||rs5752754|927|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28529554T>A|||1||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-11|31|48|31;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068043.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=132335;gnomADv4_1_AC_joint_XX=67706;gnomADv4_1_AC_joint_XY=64629;gnomADv4_1_AF_grpmax_joint=0.942177;gnomADv4_1_AF_joint=0.869504;gnomADv4_1_AF_joint_XX=0.870481;gnomADv4_1_AF_joint_XY=0.868483;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152196;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=57644;gnomADv4_1_nhomalt_joint_XX=29538;gnomADv4_1_nhomalt_joint_XY=28106;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28529972 chr22_28529972_T_G T G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.657;CADD_Rawscore=-0.124663;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+99580A>C|||||||rs2103943||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28529972T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+99580A>C|||||||rs2103943||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28529972T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+99580A>C|||||||rs2103943||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28529972T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+99580A>C|||||||rs2103943||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28529972T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+99580A>C|||||||rs2103943||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28529972T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+99580A>C|||||||rs2103943||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28529972T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+99580A>C|||||||rs2103943||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28529972T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+99580A>C|||||||rs2103943||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28529972T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+99580A>C|||||||rs2103943||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28529972T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+99580A>C|||||||rs2103943||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28529972T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-10652A>C|||||||rs2103943||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28529972T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||||||||||rs2103943|1345|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28529972T>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|23|30|6|23;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068043.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152340;gnomADv4_1_AC_joint_XX=77859;gnomADv4_1_AC_joint_XY=74481;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999987;gnomADv4_1_AF_joint_XX=0.999987;gnomADv4_1_AF_joint_XY=0.999987;gnomADv4_1_AN_grpmax_joint=68040;gnomADv4_1_AN_joint=152342;gnomADv4_1_AN_joint_XX=77860;gnomADv4_1_AN_joint_XY=74482;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76169;gnomADv4_1_nhomalt_joint_XX=38929;gnomADv4_1_nhomalt_joint_XY=37240;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28531117 chr22_28531117_C_T C T 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.305;CADD_Rawscore=-0.31809;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+98435G>A|||||||rs34378746||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28531117C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+98435G>A|||||||rs34378746||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28531117C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+98435G>A|||||||rs34378746||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28531117C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+98435G>A|||||||rs34378746||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28531117C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+98435G>A|||||||rs34378746||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28531117C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+98435G>A|||||||rs34378746||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28531117C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+98435G>A|||||||rs34378746||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28531117C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+98435G>A|||||||rs34378746||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28531117C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+98435G>A|||||||rs34378746||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28531117C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+98435G>A|||||||rs34378746||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28531117C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-11797G>A|||||||rs34378746||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28531117C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||||||||||rs34378746|2490|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28531117C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-9|-1|-3|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068043.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26508;gnomADv4_1_AC_joint_XX=13718;gnomADv4_1_AC_joint_XY=12790;gnomADv4_1_AF_grpmax_joint=0.230182;gnomADv4_1_AF_joint=0.174473;gnomADv4_1_AF_joint_XX=0.176637;gnomADv4_1_AF_joint_XY=0.17221;gnomADv4_1_AN_grpmax_joint=67894;gnomADv4_1_AN_joint=151932;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2717;gnomADv4_1_nhomalt_joint_XX=1466;gnomADv4_1_nhomalt_joint_XY=1251;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28531123 chr22_28531123_G_A G A 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.713;CADD_Rawscore=-0.104419;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+98429C>T|||||||rs11704100||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28531123G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+98429C>T|||||||rs11704100||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28531123G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+98429C>T|||||||rs11704100||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28531123G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+98429C>T|||||||rs11704100||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28531123G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+98429C>T|||||||rs11704100||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28531123G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+98429C>T|||||||rs11704100||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28531123G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+98429C>T|||||||rs11704100||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28531123G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+98429C>T|||||||rs11704100||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28531123G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+98429C>T|||||||rs11704100||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28531123G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+98429C>T|||||||rs11704100||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28531123G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-11803C>T|||||||rs11704100||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28531123G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||||||||||rs11704100|2496|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28531123G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|48|47|48|-13;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068043.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26511;gnomADv4_1_AC_joint_XX=13716;gnomADv4_1_AC_joint_XY=12795;gnomADv4_1_AF_grpmax_joint=0.230143;gnomADv4_1_AF_joint=0.174414;gnomADv4_1_AF_joint_XX=0.176543;gnomADv4_1_AF_joint_XY=0.172189;gnomADv4_1_AN_grpmax_joint=67910;gnomADv4_1_AN_joint=152000;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2721;gnomADv4_1_nhomalt_joint_XX=1466;gnomADv4_1_nhomalt_joint_XY=1255;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28531159 chr22_28531159_G_A G A 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.787;CADD_Rawscore=-0.079415;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+98393C>T|||||||rs34387654||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28531159G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+98393C>T|||||||rs34387654||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28531159G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+98393C>T|||||||rs34387654||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28531159G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+98393C>T|||||||rs34387654||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28531159G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+98393C>T|||||||rs34387654||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28531159G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+98393C>T|||||||rs34387654||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28531159G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+98393C>T|||||||rs34387654||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28531159G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+98393C>T|||||||rs34387654||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28531159G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+98393C>T|||||||rs34387654||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28531159G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+98393C>T|||||||rs34387654||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28531159G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-11839C>T|||||||rs34387654||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28531159G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||||||||||rs34387654|2532|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28531159G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-13|11|12|-49;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068043.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26597;gnomADv4_1_AC_joint_XX=13761;gnomADv4_1_AC_joint_XY=12836;gnomADv4_1_AF_grpmax_joint=0.230777;gnomADv4_1_AF_joint=0.174909;gnomADv4_1_AF_joint_XX=0.176995;gnomADv4_1_AF_joint_XY=0.172727;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2765;gnomADv4_1_nhomalt_joint_XX=1489;gnomADv4_1_nhomalt_joint_XY=1276;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28531890 chr22_28531890_T_C T C 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADD_PHREDscore=4.85;CADD_Rawscore=0.441876;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+97662A>G|||||||rs140247226||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28531890T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+97662A>G|||||||rs140247226||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28531890T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+97662A>G|||||||rs140247226||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28531890T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+97662A>G|||||||rs140247226||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28531890T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+97662A>G|||||||rs140247226||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28531890T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+97662A>G|||||||rs140247226||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28531890T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+97662A>G|||||||rs140247226||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28531890T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+97662A>G|||||||rs140247226||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28531890T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+97662A>G|||||||rs140247226||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28531890T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+97662A>G|||||||rs140247226||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28531890T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-12570A>G|||||||rs140247226||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28531890T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||||||||||rs140247226|3263|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28531890T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|0|43|-22|-7;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068043.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3583;gnomADv4_1_AC_joint_XX=1861;gnomADv4_1_AC_joint_XY=1722;gnomADv4_1_AF_grpmax_joint=0.0544218;gnomADv4_1_AF_joint=0.0235306;gnomADv4_1_AF_joint_XX=0.0239129;gnomADv4_1_AF_joint_XY=0.0231309;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152270;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=61;gnomADv4_1_nhomalt_joint_XX=32;gnomADv4_1_nhomalt_joint_XY=29;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28532438 chr22_28532438_C_G C G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.811;CADD_Rawscore=0.25601;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+97114G>C|||||||rs5762674||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28532438C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+97114G>C|||||||rs5762674||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28532438C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+97114G>C|||||||rs5762674||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28532438C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+97114G>C|||||||rs5762674||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28532438C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+97114G>C|||||||rs5762674||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28532438C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+97114G>C|||||||rs5762674||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28532438C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+97114G>C|||||||rs5762674||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28532438C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+97114G>C|||||||rs5762674||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28532438C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+97114G>C|||||||rs5762674||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28532438C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+97114G>C|||||||rs5762674||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28532438C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-13118G>C|||||||rs5762674||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28532438C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||||||||||rs5762674|3811|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28532438C>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-3|28|33|-14;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068043.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40586;gnomADv4_1_AC_joint_XX=20848;gnomADv4_1_AC_joint_XY=19738;gnomADv4_1_AF_grpmax_joint=0.404762;gnomADv4_1_AF_joint=0.267686;gnomADv4_1_AF_joint_XX=0.268791;gnomADv4_1_AF_joint_XY=0.266528;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151618;gnomADv4_1_AN_joint_XX=77562;gnomADv4_1_AN_joint_XY=74056;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6673;gnomADv4_1_nhomalt_joint_XX=3468;gnomADv4_1_nhomalt_joint_XY=3205;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28532552 chr22_28532552_T_C T C 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=3.297;CADD_Rawscore=0.30229;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+97000A>G|||||||rs1175985952||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28532552T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+97000A>G|||||||rs1175985952||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28532552T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+97000A>G|||||||rs1175985952||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28532552T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+97000A>G|||||||rs1175985952||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28532552T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+97000A>G|||||||rs1175985952||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28532552T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+97000A>G|||||||rs1175985952||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28532552T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+97000A>G|||||||rs1175985952||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28532552T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+97000A>G|||||||rs1175985952||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28532552T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+97000A>G|||||||rs1175985952||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28532552T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+97000A>G|||||||rs1175985952||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28532552T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-13232A>G|||||||rs1175985952||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28532552T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||||||||||rs1175985952|3925|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28532552T>C|||||||||||||;SpliceAI=C|TTC28|0.01|0.00|0.00|0.00|33|-43|1|-3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068043.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5;gnomADv4_1_AC_joint_XX=2;gnomADv4_1_AC_joint_XY=3;gnomADv4_1_AF_joint=3.28502e-05;gnomADv4_1_AF_joint_XX=2.56951e-05;gnomADv4_1_AF_joint_XY=4.03388e-05;gnomADv4_1_AN_joint=152206;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28532680 chr22_28532680_C_A C A 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=1.684;CADD_Rawscore=0.118535;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+96872G>T|||||||rs151240837||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28532680C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+96872G>T|||||||rs151240837||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28532680C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+96872G>T|||||||rs151240837||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28532680C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+96872G>T|||||||rs151240837||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28532680C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+96872G>T|||||||rs151240837||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28532680C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+96872G>T|||||||rs151240837||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28532680C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+96872G>T|||||||rs151240837||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28532680C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+96872G>T|||||||rs151240837||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28532680C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+96872G>T|||||||rs151240837||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28532680C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+96872G>T|||||||rs151240837||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28532680C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-13360G>T|||||||rs151240837||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28532680C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||||||||||rs151240837|4053|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28532680C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-27|49|2|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068043.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11787;gnomADv4_1_AC_joint_XX=5851;gnomADv4_1_AC_joint_XY=5936;gnomADv4_1_AF_grpmax_joint=0.144203;gnomADv4_1_AF_joint=0.0774238;gnomADv4_1_AF_joint_XX=0.075196;gnomADv4_1_AF_joint_XY=0.0797528;gnomADv4_1_AN_grpmax_joint=15284;gnomADv4_1_AN_joint=152240;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=578;gnomADv4_1_nhomalt_joint_XX=263;gnomADv4_1_nhomalt_joint_XY=315;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28532870 chr22_28532870_A_C A C 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.84;CADD_Rawscore=0.258915;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+96682T>G|||||||rs149936356||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28532870A>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+96682T>G|||||||rs149936356||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28532870A>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+96682T>G|||||||rs149936356||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28532870A>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+96682T>G|||||||rs149936356||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28532870A>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+96682T>G|||||||rs149936356||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28532870A>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+96682T>G|||||||rs149936356||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28532870A>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+96682T>G|||||||rs149936356||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28532870A>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+96682T>G|||||||rs149936356||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28532870A>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+96682T>G|||||||rs149936356||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28532870A>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+96682T>G|||||||rs149936356||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28532870A>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17165-13550T>G|||||||rs149936356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28532870A>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068043.1|lncRNA||||||||||rs149936356|4243|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28532870A>C|||1||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|3|-11|5|9;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1,XR_007068043.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2649;gnomADv4_1_AC_joint_XX=1386;gnomADv4_1_AC_joint_XY=1263;gnomADv4_1_AF_grpmax_joint=0.0544218;gnomADv4_1_AF_joint=0.0173912;gnomADv4_1_AF_joint_XX=0.0178076;gnomADv4_1_AF_joint_XY=0.0169562;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152318;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=37;gnomADv4_1_nhomalt_joint_XX=20;gnomADv4_1_nhomalt_joint_XY=17;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28535952 chr22_28535952_T_C T C 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=3.666;CADD_Rawscore=0.335522;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+93600A>G|||||||rs145567538||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28535952T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+93600A>G|||||||rs145567538||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28535952T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+93600A>G|||||||rs145567538||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28535952T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+93600A>G|||||||rs145567538||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28535952T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+93600A>G|||||||rs145567538||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28535952T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+93600A>G|||||||rs145567538||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28535952T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+93600A>G|||||||rs145567538||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28535952T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+93600A>G|||||||rs145567538||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28535952T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+93600A>G|||||||rs145567538||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28535952T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+93600A>G|||||||rs145567538||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28535952T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17164+11722A>G|||||||rs145567538||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28535952T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-49|-3|-26|-3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7626;gnomADv4_1_AC_joint_XX=3968;gnomADv4_1_AC_joint_XY=3658;gnomADv4_1_AF_grpmax_joint=0.146259;gnomADv4_1_AF_joint=0.0501295;gnomADv4_1_AF_joint_XX=0.051038;gnomADv4_1_AF_joint_XY=0.0491799;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=298;gnomADv4_1_nhomalt_joint_XX=146;gnomADv4_1_nhomalt_joint_XY=152;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28536198 chr22_28536198_CA_C CA C 20 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=20;CADDIndel_PHREDscore=1.15;CADDIndel_Rawscore=0.018559;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+93353del|||||||rs59506221||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28536220del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+93353del|||||||rs59506221||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28536220del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+93353del|||||||rs59506221||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28536220del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+93353del|||||||rs59506221||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28536220del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+93353del|||||||rs59506221||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28536220del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+93353del|||||||rs59506221||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28536220del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+93353del|||||||rs59506221||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28536220del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+93353del|||||||rs59506221||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28536220del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+93353del|||||||rs59506221||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28536220del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+93353del|||||||rs59506221||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28536220del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17164+11475del|||||||rs59506221||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28536220del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-3|8|-3|3;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17660;gnomADv4_1_AC_joint_XX=9858;gnomADv4_1_AC_joint_XY=7802;gnomADv4_1_AF_grpmax_joint=0.317834;gnomADv4_1_AF_joint=0.275455;gnomADv4_1_AF_joint_XX=0.278995;gnomADv4_1_AF_joint_XY=0.27111;gnomADv4_1_AN_grpmax_joint=34238;gnomADv4_1_AN_joint=64112;gnomADv4_1_AN_joint_XX=35334;gnomADv4_1_AN_joint_XY=28778;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=447;gnomADv4_1_nhomalt_joint_XX=205;gnomADv4_1_nhomalt_joint_XY=242;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28536214 chr22_28536214_A_T A T 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=23;CADD_PHREDscore=4.218;CADD_Rawscore=0.384624;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+93338T>A|||||||rs1989473||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28536214A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+93338T>A|||||||rs1989473||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28536214A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+93338T>A|||||||rs1989473||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28536214A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+93338T>A|||||||rs1989473||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28536214A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+93338T>A|||||||rs1989473||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28536214A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+93338T>A|||||||rs1989473||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28536214A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+93338T>A|||||||rs1989473||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28536214A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+93338T>A|||||||rs1989473||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28536214A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+93338T>A|||||||rs1989473||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28536214A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+93338T>A|||||||rs1989473||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28536214A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17164+11460T>A|||||||rs1989473||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28536214A>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|-19|8|-43;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31701;gnomADv4_1_AC_joint_XX=16730;gnomADv4_1_AC_joint_XY=14971;gnomADv4_1_AF_grpmax_joint=0.231964;gnomADv4_1_AF_joint=0.219673;gnomADv4_1_AF_joint_XX=0.224564;gnomADv4_1_AF_joint_XY=0.214454;gnomADv4_1_AN_grpmax_joint=66338;gnomADv4_1_AN_joint=144310;gnomADv4_1_AN_joint_XX=74500;gnomADv4_1_AN_joint_XY=69810;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3768;gnomADv4_1_nhomalt_joint_XX=2004;gnomADv4_1_nhomalt_joint_XY=1764;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28536219 chr22_28536219_AAC_A AAC A 22 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=22;CADDIndel_PHREDscore=1.133;CADDIndel_Rawscore=0.01469;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+93331_381+93332del|||||||rs1326446411||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||AC|AC||||chr22:g.28536221_28536222del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+93331_381+93332del|||||||rs1326446411||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||AC|AC||||chr22:g.28536221_28536222del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+93331_381+93332del|||||||rs1326446411||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||AC|AC||||chr22:g.28536221_28536222del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+93331_303+93332del|||||||rs1326446411||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||AC|AC||||chr22:g.28536221_28536222del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+93331_381+93332del|||||||rs1326446411||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||AC|AC||||chr22:g.28536221_28536222del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+93331_381+93332del|||||||rs1326446411||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||AC|AC||||chr22:g.28536221_28536222del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+93331_381+93332del|||||||rs1326446411||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||AC|AC||||chr22:g.28536221_28536222del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+93331_291+93332del|||||||rs1326446411||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||AC|AC||||chr22:g.28536221_28536222del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+93331_303+93332del|||||||rs1326446411||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||AC|AC||||chr22:g.28536221_28536222del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+93331_75+93332del|||||||rs1326446411||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||AC|AC||||chr22:g.28536221_28536222del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17164+11453_17164+11454del|||||||rs1326446411||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.28536221_28536222del|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-24|-13|-24|36;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33463;gnomADv4_1_AC_joint_XX=17614;gnomADv4_1_AC_joint_XY=15849;gnomADv4_1_AF_grpmax_joint=0.260674;gnomADv4_1_AF_joint=0.232343;gnomADv4_1_AF_joint_XX=0.237194;gnomADv4_1_AF_joint_XY=0.22718;gnomADv4_1_AN_grpmax_joint=38972;gnomADv4_1_AN_joint=144024;gnomADv4_1_AN_joint_XX=74260;gnomADv4_1_AN_joint_XY=69764;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4147;gnomADv4_1_nhomalt_joint_XX=2213;gnomADv4_1_nhomalt_joint_XY=1934;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28537118 chr22_28537118_C_T C T 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.353;CADD_Rawscore=0.207286;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+92434G>A|||||||rs4583569||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28537118C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+92434G>A|||||||rs4583569||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28537118C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+92434G>A|||||||rs4583569||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28537118C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+92434G>A|||||||rs4583569||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28537118C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+92434G>A|||||||rs4583569||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28537118C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+92434G>A|||||||rs4583569||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28537118C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+92434G>A|||||||rs4583569||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28537118C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+92434G>A|||||||rs4583569||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28537118C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+92434G>A|||||||rs4583569||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28537118C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+92434G>A|||||||rs4583569||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28537118C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17164+10556G>A|||||||rs4583569||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28537118C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|6|-16|6|36;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=128120;gnomADv4_1_AC_joint_XX=65616;gnomADv4_1_AC_joint_XY=62504;gnomADv4_1_AF_grpmax_joint=0.935374;gnomADv4_1_AF_joint=0.85261;gnomADv4_1_AF_joint_XX=0.852931;gnomADv4_1_AF_joint_XY=0.852273;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=150268;gnomADv4_1_AN_joint_XX=76930;gnomADv4_1_AN_joint_XY=73338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=54849;gnomADv4_1_nhomalt_joint_XX=28119;gnomADv4_1_nhomalt_joint_XY=26730;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28538325 chr22_28538325_T_C T C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.106;CADD_Rawscore=0.008401;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+91227A>G|||||||rs6005807||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28538325T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+91227A>G|||||||rs6005807||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28538325T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+91227A>G|||||||rs6005807||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28538325T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+91227A>G|||||||rs6005807||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28538325T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+91227A>G|||||||rs6005807||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28538325T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+91227A>G|||||||rs6005807||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28538325T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+91227A>G|||||||rs6005807||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28538325T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+91227A>G|||||||rs6005807||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28538325T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+91227A>G|||||||rs6005807||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28538325T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+91227A>G|||||||rs6005807||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28538325T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17164+9349A>G|||||||rs6005807||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28538325T>C|||1||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-50|-47|-50|9;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=135424;gnomADv4_1_AC_joint_XX=69325;gnomADv4_1_AC_joint_XY=66099;gnomADv4_1_AF_grpmax_joint=0.962329;gnomADv4_1_AF_joint=0.890514;gnomADv4_1_AF_joint_XX=0.8918;gnomADv4_1_AF_joint_XY=0.889168;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=60404;gnomADv4_1_nhomalt_joint_XX=30980;gnomADv4_1_nhomalt_joint_XY=29424;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28538556 chr22_28538556_CT_C CT C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=43;CADDIndel_PHREDscore=0.621;CADDIndel_Rawscore=-0.139057;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+90995del|||||||rs753754141||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28538577del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+90995del|||||||rs753754141||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28538577del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+90995del|||||||rs753754141||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28538577del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+90995del|||||||rs753754141||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28538577del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+90995del|||||||rs753754141||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28538577del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+90995del|||||||rs753754141||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28538577del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+90995del|||||||rs753754141||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28538577del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+90995del|||||||rs753754141||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28538577del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+90995del|||||||rs753754141||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28538577del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+90995del|||||||rs753754141||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28538577del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17164+9117del|||||||rs753754141||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28538577del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|13|-6|-1|-6;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31211;gnomADv4_1_AC_joint_XX=16862;gnomADv4_1_AC_joint_XY=14349;gnomADv4_1_AF_grpmax_joint=0.338903;gnomADv4_1_AF_joint=0.285742;gnomADv4_1_AF_joint_XX=0.290184;gnomADv4_1_AF_joint_XY=0.280692;gnomADv4_1_AN_grpmax_joint=53440;gnomADv4_1_AN_joint=109228;gnomADv4_1_AN_joint_XX=58108;gnomADv4_1_AN_joint_XY=51120;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1948;gnomADv4_1_nhomalt_joint_XX=987;gnomADv4_1_nhomalt_joint_XY=961;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28539744 chr22_28539744_CAAG_C CAAG C 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=5.395;CADDIndel_Rawscore=0.493349;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+89805_381+89807del|||||||rs140219901||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||AAG|AAG||||chr22:g.28539751_28539753del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+89805_381+89807del|||||||rs140219901||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||AAG|AAG||||chr22:g.28539751_28539753del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+89805_381+89807del|||||||rs140219901||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||AAG|AAG||||chr22:g.28539751_28539753del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+89805_303+89807del|||||||rs140219901||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||AAG|AAG||||chr22:g.28539751_28539753del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+89805_381+89807del|||||||rs140219901||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||AAG|AAG||||chr22:g.28539751_28539753del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+89805_381+89807del|||||||rs140219901||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||AAG|AAG||||chr22:g.28539751_28539753del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+89805_381+89807del|||||||rs140219901||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||AAG|AAG||||chr22:g.28539751_28539753del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+89805_291+89807del|||||||rs140219901||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||AAG|AAG||||chr22:g.28539751_28539753del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+89805_303+89807del|||||||rs140219901||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||AAG|AAG||||chr22:g.28539751_28539753del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+89805_75+89807del|||||||rs140219901||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||AAG|AAG||||chr22:g.28539751_28539753del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17164+7927_17164+7929del|||||||rs140219901||-1||EntrezGene||||||||||RefSeq||AAG|AAG||||chr22:g.28539751_28539753del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|48|-26|36|29;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11911;gnomADv4_1_AC_joint_XX=5917;gnomADv4_1_AC_joint_XY=5994;gnomADv4_1_AF_grpmax_joint=0.144507;gnomADv4_1_AF_joint=0.0784155;gnomADv4_1_AF_joint_XX=0.0761519;gnomADv4_1_AF_joint_XY=0.080786;gnomADv4_1_AN_grpmax_joint=15238;gnomADv4_1_AN_joint=151896;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74196;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=584;gnomADv4_1_nhomalt_joint_XX=268;gnomADv4_1_nhomalt_joint_XY=316;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28539937 chr22_28539937_CT_C CT C 27 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=27;CADDIndel_PHREDscore=0.369;CADDIndel_Rawscore=-0.269808;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+89614del|||||||rs34198666||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28539960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+89614del|||||||rs34198666||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28539960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+89614del|||||||rs34198666||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28539960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+89614del|||||||rs34198666||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28539960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+89614del|||||||rs34198666||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28539960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+89614del|||||||rs34198666||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28539960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+89614del|||||||rs34198666||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28539960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+89614del|||||||rs34198666||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28539960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+89614del|||||||rs34198666||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28539960del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+89614del|||||||rs34198666||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28539960del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17164+7736del|||||||rs34198666||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28539960del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-1|41|-21|41;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21433;gnomADv4_1_AC_joint_XX=12007;gnomADv4_1_AC_joint_XY=9426;gnomADv4_1_AF_grpmax_joint=0.303936;gnomADv4_1_AF_joint=0.253591;gnomADv4_1_AF_joint_XX=0.261545;gnomADv4_1_AF_joint_XY=0.244134;gnomADv4_1_AN_grpmax_joint=43450;gnomADv4_1_AN_joint=84518;gnomADv4_1_AN_joint_XX=45908;gnomADv4_1_AN_joint_XY=38610;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1667;gnomADv4_1_nhomalt_joint_XX=924;gnomADv4_1_nhomalt_joint_XY=743;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28546239 chr22_28546239_C_T C T 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.77;CADD_Rawscore=-0.084744;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+83313G>A|||||||rs6005809||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28546239C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+83313G>A|||||||rs6005809||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28546239C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+83313G>A|||||||rs6005809||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28546239C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+83313G>A|||||||rs6005809||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28546239C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+83313G>A|||||||rs6005809||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28546239C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+83313G>A|||||||rs6005809||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28546239C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+83313G>A|||||||rs6005809||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28546239C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+83313G>A|||||||rs6005809||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28546239C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+83313G>A|||||||rs6005809||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28546239C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+83313G>A|||||||rs6005809||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28546239C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17164+1435G>A|||||||rs6005809||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28546239C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|39|37|-27|36;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129746;gnomADv4_1_AC_joint_XX=66342;gnomADv4_1_AC_joint_XY=63404;gnomADv4_1_AF_grpmax_joint=0.935374;gnomADv4_1_AF_joint=0.852795;gnomADv4_1_AF_joint_XX=0.853054;gnomADv4_1_AF_joint_XY=0.852525;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=55553;gnomADv4_1_nhomalt_joint_XX=28430;gnomADv4_1_nhomalt_joint_XY=27123;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28546296 chr22_28546296_A_G A G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=2.38;CADD_Rawscore=0.210427;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+83256T>C|||||||rs7289516||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28546296A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+83256T>C|||||||rs7289516||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28546296A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+83256T>C|||||||rs7289516||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28546296A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+83256T>C|||||||rs7289516||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28546296A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+83256T>C|||||||rs7289516||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28546296A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+83256T>C|||||||rs7289516||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28546296A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+83256T>C|||||||rs7289516||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28546296A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+83256T>C|||||||rs7289516||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28546296A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+83256T>C|||||||rs7289516||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28546296A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+83256T>C|||||||rs7289516||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28546296A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17164+1378T>C|||||||rs7289516||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28546296A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-18|-20|25|-4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82368;gnomADv4_1_AC_joint_XX=41908;gnomADv4_1_AC_joint_XY=40460;gnomADv4_1_AF_grpmax_joint=0.661685;gnomADv4_1_AF_joint=0.542187;gnomADv4_1_AF_joint_XX=0.539481;gnomADv4_1_AF_joint_XY=0.545019;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151918;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=22933;gnomADv4_1_nhomalt_joint_XX=11610;gnomADv4_1_nhomalt_joint_XY=11323;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28546694 chr22_28546694_T_C T C 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=6.768;CADD_Rawscore=0.633095;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+82858A>G|||||||rs72617287||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28546694T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+82858A>G|||||||rs72617287||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28546694T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+82858A>G|||||||rs72617287||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28546694T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+82858A>G|||||||rs72617287||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28546694T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+82858A>G|||||||rs72617287||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28546694T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+82858A>G|||||||rs72617287||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28546694T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+82858A>G|||||||rs72617287||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28546694T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+82858A>G|||||||rs72617287||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28546694T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+82858A>G|||||||rs72617287||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28546694T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+82858A>G|||||||rs72617287||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28546694T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||1/2|XR_007068041.1:n.17164+980A>G|||||||rs72617287||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28546694T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|1|37|-43|20;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30296;gnomADv4_1_AC_joint_XX=15124;gnomADv4_1_AC_joint_XY=15172;gnomADv4_1_AF_grpmax_joint=0.388242;gnomADv4_1_AF_joint=0.199287;gnomADv4_1_AF_joint_XX=0.194651;gnomADv4_1_AF_joint_XY=0.204133;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3664;gnomADv4_1_nhomalt_joint_XX=1742;gnomADv4_1_nhomalt_joint_XY=1922;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28548260 chr22_28548260_A_G A G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=7.346;CADD_Rawscore=0.695981;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+81292T>C|||||||rs774607319||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28548260A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+81292T>C|||||||rs774607319||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28548260A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+81292T>C|||||||rs774607319||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28548260A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+81292T>C|||||||rs774607319||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28548260A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+81292T>C|||||||rs774607319||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28548260A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+81292T>C|||||||rs774607319||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28548260A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+81292T>C|||||||rs774607319||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28548260A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+81292T>C|||||||rs774607319||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28548260A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+81292T>C|||||||rs774607319||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28548260A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+81292T>C|||||||rs774607319||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28548260A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA|1/3||XR_007068041.1:n.16578T>C||16578|||||rs774607319||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28548260A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|11|-48|-16|32;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129;gnomADv4_1_AC_joint_XX=61;gnomADv4_1_AC_joint_XY=68;gnomADv4_1_AF_grpmax_joint=0.000235114;gnomADv4_1_AF_joint=0.000847402;gnomADv4_1_AF_joint_XX=0.000783417;gnomADv4_1_AF_joint_XY=0.000914396;gnomADv4_1_AN_grpmax_joint=68052;gnomADv4_1_AN_joint=152230;gnomADv4_1_AN_joint_XX=77864;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28549527 chr22_28549527_T_A T A 61 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=61;CADD_PHREDscore=6.193;CADD_Rawscore=0.57283;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+80025A>T|||||||rs5762680||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28549527T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+80025A>T|||||||rs5762680||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28549527T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+80025A>T|||||||rs5762680||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28549527T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+80025A>T|||||||rs5762680||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28549527T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+80025A>T|||||||rs5762680||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28549527T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+80025A>T|||||||rs5762680||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28549527T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+80025A>T|||||||rs5762680||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28549527T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+80025A>T|||||||rs5762680||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28549527T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+80025A>T|||||||rs5762680||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28549527T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+80025A>T|||||||rs5762680||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28549527T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA|1/3||XR_007068041.1:n.15311A>T||15311|||||rs5762680||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28549527T>A|||||||||||||;SpliceAI=A|TTC28|0.03|0.00|0.00|0.00|-9|-2|-9|-2;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98349;gnomADv4_1_AC_joint_XX=50130;gnomADv4_1_AC_joint_XY=48219;gnomADv4_1_AF_grpmax_joint=0.781471;gnomADv4_1_AF_joint=0.647067;gnomADv4_1_AF_joint_XX=0.645024;gnomADv4_1_AF_joint_XY=0.649204;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=32802;gnomADv4_1_nhomalt_joint_XX=16745;gnomADv4_1_nhomalt_joint_XY=16057;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28549563 chr22_28549563_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.21;CADD_Rawscore=0.031873;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+79989G>A|||||||rs182827068||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28549563C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+79989G>A|||||||rs182827068||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28549563C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+79989G>A|||||||rs182827068||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28549563C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+79989G>A|||||||rs182827068||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28549563C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+79989G>A|||||||rs182827068||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28549563C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+79989G>A|||||||rs182827068||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28549563C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+79989G>A|||||||rs182827068||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28549563C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+79989G>A|||||||rs182827068||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28549563C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+79989G>A|||||||rs182827068||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28549563C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+79989G>A|||||||rs182827068||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28549563C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA|1/3||XR_007068041.1:n.15275G>A||15275|||||rs182827068||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28549563C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-38|44|-38|-23;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=246;gnomADv4_1_AC_joint_XX=113;gnomADv4_1_AC_joint_XY=133;gnomADv4_1_AF_grpmax_joint=0.00216075;gnomADv4_1_AF_joint=0.0016153;gnomADv4_1_AF_joint_XX=0.00145203;gnomADv4_1_AF_joint_XY=0.00178591;gnomADv4_1_AN_grpmax_joint=68032;gnomADv4_1_AN_joint=152294;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28550200 chr22_28550200_G_C G C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.79;CADD_Rawscore=-0.07819;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+79352C>G|||||||rs5762681||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28550200G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+79352C>G|||||||rs5762681||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28550200G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+79352C>G|||||||rs5762681||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28550200G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+79352C>G|||||||rs5762681||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28550200G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+79352C>G|||||||rs5762681||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28550200G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+79352C>G|||||||rs5762681||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28550200G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+79352C>G|||||||rs5762681||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28550200G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+79352C>G|||||||rs5762681||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28550200G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+79352C>G|||||||rs5762681||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28550200G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+79352C>G|||||||rs5762681||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28550200G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA|1/3||XR_007068041.1:n.14638C>G||14638|||||rs5762681||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28550200G>C|||||||||||||;SpliceAI=C|TTC28|0.02|0.00|0.00|0.00|-49|-15|-48|37;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=150737;gnomADv4_1_AC_joint_XX=77048;gnomADv4_1_AC_joint_XY=73689;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.989711;gnomADv4_1_AF_joint_XX=0.989927;gnomADv4_1_AF_joint_XY=0.989486;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152304;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=74619;gnomADv4_1_nhomalt_joint_XX=38151;gnomADv4_1_nhomalt_joint_XY=36468;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28551643 chr22_28551643_T_C T C 59 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=5.787;CADD_Rawscore=0.53179;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+77909A>G|||||||rs5762683||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28551643T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+77909A>G|||||||rs5762683||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28551643T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+77909A>G|||||||rs5762683||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28551643T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+77909A>G|||||||rs5762683||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28551643T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+77909A>G|||||||rs5762683||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28551643T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+77909A>G|||||||rs5762683||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28551643T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+77909A>G|||||||rs5762683||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28551643T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+77909A>G|||||||rs5762683||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28551643T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+77909A>G|||||||rs5762683||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28551643T>C|||1||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+77909A>G|||||||rs5762683||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28551643T>C|||1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA|1/3||XR_007068041.1:n.13195A>G||13195|||||rs5762683||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28551643T>C|||1||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-6|-13|-43|-13;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61889;gnomADv4_1_AC_joint_XX=31383;gnomADv4_1_AC_joint_XY=30506;gnomADv4_1_AF_grpmax_joint=0.628046;gnomADv4_1_AF_joint=0.40694;gnomADv4_1_AF_joint_XX=0.403785;gnomADv4_1_AF_joint_XY=0.410236;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14455;gnomADv4_1_nhomalt_joint_XX=7290;gnomADv4_1_nhomalt_joint_XY=7165;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28551981 chr22_28551981_C_A C A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.518;CADD_Rawscore=-0.184526;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+77571G>T|||||||rs5752756||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28551981C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+77571G>T|||||||rs5752756||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28551981C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+77571G>T|||||||rs5752756||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28551981C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+77571G>T|||||||rs5752756||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28551981C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+77571G>T|||||||rs5752756||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28551981C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+77571G>T|||||||rs5752756||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28551981C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+77571G>T|||||||rs5752756||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28551981C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+77571G>T|||||||rs5752756||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28551981C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+77571G>T|||||||rs5752756||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28551981C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+77571G>T|||||||rs5752756||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28551981C>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA|1/3||XR_007068041.1:n.12857G>T||12857|||||rs5752756||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28551981C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-3|26|-3|-12;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=150633;gnomADv4_1_AC_joint_XX=77005;gnomADv4_1_AC_joint_XY=73628;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.989249;gnomADv4_1_AF_joint_XX=0.989527;gnomADv4_1_AF_joint_XY=0.988959;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152270;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=74533;gnomADv4_1_nhomalt_joint_XX=38114;gnomADv4_1_nhomalt_joint_XY=36419;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28552758 chr22_28552758_T_C T C 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=33;CADD_PHREDscore=3.069;CADD_Rawscore=0.281094;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+76794A>G|||||||rs376505566||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28552758T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+76794A>G|||||||rs376505566||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28552758T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+76794A>G|||||||rs376505566||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28552758T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+76794A>G|||||||rs376505566||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28552758T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+76794A>G|||||||rs376505566||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28552758T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+76794A>G|||||||rs376505566||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28552758T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+76794A>G|||||||rs376505566||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28552758T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+76794A>G|||||||rs376505566||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28552758T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+76794A>G|||||||rs376505566||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28552758T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+76794A>G|||||||rs376505566||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28552758T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA|1/3||XR_007068041.1:n.12080A>G||12080|||||rs376505566||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28552758T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-48|-47|35|-47;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26011;gnomADv4_1_AC_joint_XX=13807;gnomADv4_1_AC_joint_XY=12204;gnomADv4_1_AF_grpmax_joint=0.301065;gnomADv4_1_AF_joint=0.199734;gnomADv4_1_AF_joint_XX=0.205126;gnomADv4_1_AF_joint_XY=0.193967;gnomADv4_1_AN_grpmax_joint=56732;gnomADv4_1_AN_joint=130228;gnomADv4_1_AN_joint_XX=67310;gnomADv4_1_AN_joint_XY=62918;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3716;gnomADv4_1_nhomalt_joint_XX=2040;gnomADv4_1_nhomalt_joint_XY=1676;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28552763 chr22_28552763_G_C G C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=39;CADD_PHREDscore=1.693;CADD_Rawscore=0.119924;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+76789C>G|||||||rs145915813||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28552763G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+76789C>G|||||||rs145915813||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28552763G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+76789C>G|||||||rs145915813||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28552763G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+76789C>G|||||||rs145915813||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28552763G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+76789C>G|||||||rs145915813||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28552763G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+76789C>G|||||||rs145915813||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28552763G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+76789C>G|||||||rs145915813||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28552763G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+76789C>G|||||||rs145915813||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28552763G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+76789C>G|||||||rs145915813||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28552763G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+76789C>G|||||||rs145915813||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28552763G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA|1/3||XR_007068041.1:n.12075C>G||12075|||||rs145915813||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28552763G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|30|-2|30|-45;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25588;gnomADv4_1_AC_joint_XX=13645;gnomADv4_1_AC_joint_XY=11943;gnomADv4_1_AF_grpmax_joint=0.301398;gnomADv4_1_AF_joint=0.201531;gnomADv4_1_AF_joint_XX=0.207484;gnomADv4_1_AF_joint_XY=0.195134;gnomADv4_1_AN_grpmax_joint=55790;gnomADv4_1_AN_joint=126968;gnomADv4_1_AN_joint_XX=65764;gnomADv4_1_AN_joint_XY=61204;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3620;gnomADv4_1_nhomalt_joint_XX=2008;gnomADv4_1_nhomalt_joint_XY=1612;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28553477 chr22_28553477_A_G A G 47 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=5.339;CADD_Rawscore=0.488013;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+76075T>C|||||||rs6005811||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28553477A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+76075T>C|||||||rs6005811||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28553477A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+76075T>C|||||||rs6005811||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28553477A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+76075T>C|||||||rs6005811||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28553477A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+76075T>C|||||||rs6005811||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28553477A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+76075T>C|||||||rs6005811||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28553477A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+76075T>C|||||||rs6005811||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28553477A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+76075T>C|||||||rs6005811||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28553477A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+76075T>C|||||||rs6005811||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28553477A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+76075T>C|||||||rs6005811||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28553477A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA|1/3||XR_007068041.1:n.11361T>C||11361|||||rs6005811||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28553477A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|44|-15|-14|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=146008;gnomADv4_1_AC_joint_XX=74434;gnomADv4_1_AC_joint_XY=71574;gnomADv4_1_AF_grpmax_joint=0.992227;gnomADv4_1_AF_joint=0.987061;gnomADv4_1_AF_joint_XX=0.98656;gnomADv4_1_AF_joint_XY=0.987582;gnomADv4_1_AN_grpmax_joint=14924;gnomADv4_1_AN_joint=147922;gnomADv4_1_AN_joint_XX=75448;gnomADv4_1_AN_joint_XY=72474;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=72072;gnomADv4_1_nhomalt_joint_XX=36724;gnomADv4_1_nhomalt_joint_XY=35348;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28553483 chr22_28553483_G_A G A 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=6.677;CADD_Rawscore=0.623398;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+76069C>T|||||||rs6005812||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28553483G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+76069C>T|||||||rs6005812||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28553483G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+76069C>T|||||||rs6005812||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28553483G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+76069C>T|||||||rs6005812||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28553483G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+76069C>T|||||||rs6005812||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28553483G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+76069C>T|||||||rs6005812||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28553483G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+76069C>T|||||||rs6005812||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28553483G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+76069C>T|||||||rs6005812||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28553483G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+76069C>T|||||||rs6005812||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28553483G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+76069C>T|||||||rs6005812||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28553483G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA|1/3||XR_007068041.1:n.11355C>T||11355|||||rs6005812||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28553483G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|1|38|2|-20;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48026;gnomADv4_1_AC_joint_XX=24655;gnomADv4_1_AC_joint_XY=23371;gnomADv4_1_AF_grpmax_joint=0.453398;gnomADv4_1_AF_joint=0.322508;gnomADv4_1_AF_joint_XX=0.323837;gnomADv4_1_AF_joint_XY=0.321118;gnomADv4_1_AN_grpmax_joint=40234;gnomADv4_1_AN_joint=148914;gnomADv4_1_AN_joint_XX=76134;gnomADv4_1_AN_joint_XY=72780;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8312;gnomADv4_1_nhomalt_joint_XX=4333;gnomADv4_1_nhomalt_joint_XY=3979;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28553739 chr22_28553739_G_A G A 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=4.713;CADD_Rawscore=0.429284;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+75813C>T|||||||rs12484389||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28553739G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+75813C>T|||||||rs12484389||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28553739G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+75813C>T|||||||rs12484389||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28553739G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+75813C>T|||||||rs12484389||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28553739G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+75813C>T|||||||rs12484389||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28553739G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+75813C>T|||||||rs12484389||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28553739G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+75813C>T|||||||rs12484389||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28553739G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+75813C>T|||||||rs12484389||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28553739G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+75813C>T|||||||rs12484389||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28553739G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+75813C>T|||||||rs12484389||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28553739G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA|1/3||XR_007068041.1:n.11099C>T||11099|||||rs12484389||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28553739G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-3|-12|-6|-10;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11933;gnomADv4_1_AC_joint_XX=5926;gnomADv4_1_AC_joint_XY=6007;gnomADv4_1_AF_grpmax_joint=0.145883;gnomADv4_1_AF_joint=0.0788688;gnomADv4_1_AF_joint_XX=0.076591;gnomADv4_1_AF_joint_XY=0.0812525;gnomADv4_1_AN_grpmax_joint=15252;gnomADv4_1_AN_joint=151302;gnomADv4_1_AN_joint_XX=77372;gnomADv4_1_AN_joint_XY=73930;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=595;gnomADv4_1_nhomalt_joint_XX=275;gnomADv4_1_nhomalt_joint_XY=320;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28556913 chr22_28556913_T_C T C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=7.985;CADD_Rawscore=0.767136;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+72639A>G|||||||rs2180459||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28556913T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+72639A>G|||||||rs2180459||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28556913T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+72639A>G|||||||rs2180459||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28556913T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+72639A>G|||||||rs2180459||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28556913T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+72639A>G|||||||rs2180459||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28556913T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+72639A>G|||||||rs2180459||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28556913T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+72639A>G|||||||rs2180459||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28556913T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+72639A>G|||||||rs2180459||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28556913T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+72639A>G|||||||rs2180459||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28556913T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+72639A>G|||||||rs2180459||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28556913T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA|1/3||XR_007068041.1:n.7925A>G||7925|||||rs2180459||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28556913T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-1|-16|-7|-15;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=150770;gnomADv4_1_AC_joint_XX=77064;gnomADv4_1_AC_joint_XY=73706;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.989668;gnomADv4_1_AF_joint_XX=0.989878;gnomADv4_1_AF_joint_XY=0.989449;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152344;gnomADv4_1_AN_joint_XX=77852;gnomADv4_1_AN_joint_XY=74492;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=74633;gnomADv4_1_nhomalt_joint_XX=38157;gnomADv4_1_nhomalt_joint_XY=36476;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28558400 chr22_28558400_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.295;CADD_Rawscore=-0.326697;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+71152C>T|||||||rs5762686||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28558400G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+71152C>T|||||||rs5762686||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28558400G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+71152C>T|||||||rs5762686||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28558400G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+71152C>T|||||||rs5762686||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28558400G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+71152C>T|||||||rs5762686||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28558400G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+71152C>T|||||||rs5762686||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28558400G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+71152C>T|||||||rs5762686||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28558400G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+71152C>T|||||||rs5762686||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28558400G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+71152C>T|||||||rs5762686||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28558400G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+71152C>T|||||||rs5762686||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28558400G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA|1/3||XR_007068041.1:n.6438C>T||6438|||||rs5762686||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28558400G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|2|27|2|-48;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34912;gnomADv4_1_AC_joint_XX=17872;gnomADv4_1_AC_joint_XY=17040;gnomADv4_1_AF_grpmax_joint=0.378059;gnomADv4_1_AF_joint=0.229434;gnomADv4_1_AF_joint_XX=0.22977;gnomADv4_1_AF_joint_XY=0.229082;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152166;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5019;gnomADv4_1_nhomalt_joint_XX=2571;gnomADv4_1_nhomalt_joint_XY=2448;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28561072 chr22_28561072_CT_C CT C 39 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=39;CADDIndel_PHREDscore=0.485;CADDIndel_Rawscore=-0.200836;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+68479del|||||||rs11296581||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28561091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+68479del|||||||rs11296581||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28561091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+68479del|||||||rs11296581||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28561091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+68479del|||||||rs11296581||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28561091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+68479del|||||||rs11296581||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28561091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+68479del|||||||rs11296581||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28561091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+68479del|||||||rs11296581||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28561091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+68479del|||||||rs11296581||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28561091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+68479del|||||||rs11296581||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28561091del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+68479del|||||||rs11296581||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28561091del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA|1/3||XR_007068041.1:n.3765del||3765|||||rs11296581||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28561091del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-1|47|43|12;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46646;gnomADv4_1_AC_joint_XX=24993;gnomADv4_1_AC_joint_XY=21653;gnomADv4_1_AF_grpmax_joint=0.837071;gnomADv4_1_AF_joint=0.793245;gnomADv4_1_AF_joint_XX=0.78897;gnomADv4_1_AF_joint_XY=0.798238;gnomADv4_1_AN_grpmax_joint=1516;gnomADv4_1_AN_joint=58804;gnomADv4_1_AN_joint_XX=31678;gnomADv4_1_AN_joint_XY=27126;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=17689;gnomADv4_1_nhomalt_joint_XX=9351;gnomADv4_1_nhomalt_joint_XY=8338;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28566099 chr22_28566099_AC_A AC A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=0.428;CADDIndel_Rawscore=-0.231966;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+63452del|||||||rs66746766||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28566103del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+63452del|||||||rs66746766||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28566103del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+63452del|||||||rs66746766||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28566103del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+63452del|||||||rs66746766||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28566103del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+63452del|||||||rs66746766||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28566103del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+63452del|||||||rs66746766||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28566103del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+63452del|||||||rs66746766||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28566103del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+63452del|||||||rs66746766||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28566103del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+63452del|||||||rs66746766||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28566103del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+63452del|||||||rs66746766||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28566103del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||||||||||rs66746766|1263|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28566103del|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-34|2|3|2;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39821;gnomADv4_1_AC_joint_XX=20357;gnomADv4_1_AC_joint_XY=19464;gnomADv4_1_AF_grpmax_joint=0.383929;gnomADv4_1_AF_joint=0.261994;gnomADv4_1_AF_joint_XX=0.261874;gnomADv4_1_AF_joint_XY=0.26212;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6532;gnomADv4_1_nhomalt_joint_XX=3346;gnomADv4_1_nhomalt_joint_XY=3186;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28567463 chr22_28567463_C_T C T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.583;CADD_Rawscore=-0.154687;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+62089G>A|||||||rs11705481||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28567463C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+62089G>A|||||||rs11705481||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28567463C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+62089G>A|||||||rs11705481||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28567463C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+62089G>A|||||||rs11705481||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28567463C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+62089G>A|||||||rs11705481||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28567463C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+62089G>A|||||||rs11705481||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28567463C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+62089G>A|||||||rs11705481||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28567463C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+62089G>A|||||||rs11705481||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28567463C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+62089G>A|||||||rs11705481||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28567463C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+62089G>A|||||||rs11705481||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28567463C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||||||||||rs11705481|2626|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28567463C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|4|-5|-4|-36;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17012;gnomADv4_1_AC_joint_XX=9747;gnomADv4_1_AC_joint_XY=7265;gnomADv4_1_AF_grpmax_joint=0.270724;gnomADv4_1_AF_joint=0.181539;gnomADv4_1_AF_joint_XX=0.192408;gnomADv4_1_AF_joint_XY=0.168749;gnomADv4_1_AN_grpmax_joint=48928;gnomADv4_1_AN_joint=93710;gnomADv4_1_AN_joint_XX=50658;gnomADv4_1_AN_joint_XY=43052;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1939;gnomADv4_1_nhomalt_joint_XX=1127;gnomADv4_1_nhomalt_joint_XY=812;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28567479 chr22_28567479_C_CATATATATATAT;chr22_28567479_C_CATATATATAT;chr22_28567479_C_CATATATATATATATATATAT C CATATATATATAT 37 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.382;CADDIndel_Rawscore=-0.26086;CSQ=ATATATATATAT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+62061_381+62072dup|||||||rs398040471||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28567498_28567509dup|||||||||||||,ATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+62061_381+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28567498_28567509dup|||||||||||||,ATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+62061_381+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28567498_28567509dup|||||||||||||,ATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+62061_303+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28567498_28567509dup|||||||||||||,ATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+62061_381+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28567498_28567509dup|||||||||||||,ATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+62061_381+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28567498_28567509dup|||||||||||||,ATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+62061_381+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28567498_28567509dup|||||||||||||,ATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+62061_291+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28567498_28567509dup|||||||||||||,ATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+62061_303+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28567498_28567509dup|||||||||||||,ATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+62061_75+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28567498_28567509dup|||||||||||||,ATATATATATAT|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||||||||||rs398040471|2642|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.28567498_28567509dup|||||||||||||;TYPE=INDEL;VEP_Allele=ATATATATATAT,ATATATATATAT,ATATATATATAT,ATATATATATAT,ATATATATATAT,ATATATATATAT,ATATATATATAT,ATATATATATAT,ATATATATATAT,ATATATATATAT,ATATATATATAT;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5632;gnomADv4_1_AC_joint_XX=3235;gnomADv4_1_AC_joint_XY=2397;gnomADv4_1_AF_grpmax_joint=0.164729;gnomADv4_1_AF_joint=0.110761;gnomADv4_1_AF_joint_XX=0.113812;gnomADv4_1_AF_joint_XY=0.106894;gnomADv4_1_AN_grpmax_joint=1032;gnomADv4_1_AN_joint=50848;gnomADv4_1_AN_joint_XX=28424;gnomADv4_1_AN_joint_XY=22424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=781;gnomADv4_1_nhomalt_joint_XX=459;gnomADv4_1_nhomalt_joint_XY=322;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28567479 chr22_28567479_C_CATATATATATAT;chr22_28567479_C_CATATATATAT;chr22_28567479_C_CATATATATATATATATATAT C CATATATATAT 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=29;CADDIndel_PHREDscore=0.395;CADDIndel_Rawscore=-0.252136;CSQ=ATATATATAT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+62063_381+62072dup|||||||rs398040471||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28567500_28567509dup|||||||||||||,ATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+62063_381+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28567500_28567509dup|||||||||||||,ATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+62063_381+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28567500_28567509dup|||||||||||||,ATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+62063_303+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28567500_28567509dup|||||||||||||,ATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+62063_381+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28567500_28567509dup|||||||||||||,ATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+62063_381+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28567500_28567509dup|||||||||||||,ATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+62063_381+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28567500_28567509dup|||||||||||||,ATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+62063_291+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28567500_28567509dup|||||||||||||,ATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+62063_303+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28567500_28567509dup|||||||||||||,ATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+62063_75+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28567500_28567509dup|||||||||||||,ATATATATAT|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||||||||||rs398040471|2642|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.28567500_28567509dup|||||||||||||;TYPE=INDEL;VEP_Allele=ATATATATAT,ATATATATAT,ATATATATAT,ATATATATAT,ATATATATAT,ATATATATAT,ATATATATAT,ATATATATAT,ATATATATAT,ATATATATAT,ATATATATAT;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3265;gnomADv4_1_AC_joint_XX=1825;gnomADv4_1_AC_joint_XY=1440;gnomADv4_1_AF_grpmax_joint=0.137597;gnomADv4_1_AF_joint=0.0640623;gnomADv4_1_AF_joint_XX=0.0640891;gnomADv4_1_AF_joint_XY=0.0640285;gnomADv4_1_AN_grpmax_joint=1032;gnomADv4_1_AN_joint=50966;gnomADv4_1_AN_joint_XX=28476;gnomADv4_1_AN_joint_XY=22490;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=330;gnomADv4_1_nhomalt_joint_XX=175;gnomADv4_1_nhomalt_joint_XY=155;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28567479 chr22_28567479_C_CATATATATATAT;chr22_28567479_C_CATATATATAT;chr22_28567479_C_CATATATATATATATATATAT C CATATATATATATATATATAT 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=28;CADDIndel_PHREDscore=0.329;CADDIndel_Rawscore=-0.298648;CSQ=ATATATATATATATATATAT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+62053_381+62072dup|||||||rs398040471||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28567490_28567509dup|||||||||||||,ATATATATATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+62053_381+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28567490_28567509dup|||||||||||||,ATATATATATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+62053_381+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28567490_28567509dup|||||||||||||,ATATATATATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+62053_303+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28567490_28567509dup|||||||||||||,ATATATATATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+62053_381+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28567490_28567509dup|||||||||||||,ATATATATATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+62053_381+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28567490_28567509dup|||||||||||||,ATATATATATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+62053_381+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28567490_28567509dup|||||||||||||,ATATATATATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+62053_291+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28567490_28567509dup|||||||||||||,ATATATATATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+62053_303+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28567490_28567509dup|||||||||||||,ATATATATATATATATATAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+62053_75+62072dup|||||||rs398040471||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28567490_28567509dup|||||||||||||,ATATATATATATATATATAT|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||||||||||rs398040471|2642|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.28567490_28567509dup|||||||||||||;TYPE=INDEL;VEP_Allele=ATATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATAT;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=873;gnomADv4_1_AC_joint_XX=529;gnomADv4_1_AC_joint_XY=344;gnomADv4_1_AF_grpmax_joint=0.0290135;gnomADv4_1_AF_joint=0.0171069;gnomADv4_1_AF_joint_XX=0.0185367;gnomADv4_1_AF_joint_XY=0.015293;gnomADv4_1_AN_grpmax_joint=1034;gnomADv4_1_AN_joint=51032;gnomADv4_1_AN_joint_XX=28538;gnomADv4_1_AN_joint_XY=22494;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=83;gnomADv4_1_nhomalt_joint_XX=53;gnomADv4_1_nhomalt_joint_XY=30;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28568186 chr22_28568186_A_G A G 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.478;CADD_Rawscore=0.221326;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+61366T>C|||||||rs2180460||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28568186A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+61366T>C|||||||rs2180460||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28568186A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+61366T>C|||||||rs2180460||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28568186A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+61366T>C|||||||rs2180460||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28568186A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+61366T>C|||||||rs2180460||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28568186A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+61366T>C|||||||rs2180460||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28568186A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+61366T>C|||||||rs2180460||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28568186A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+61366T>C|||||||rs2180460||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28568186A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+61366T>C|||||||rs2180460||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28568186A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+61366T>C|||||||rs2180460||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28568186A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||||||||||rs2180460|3349|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28568186A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-19|25|-19|15;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70212;gnomADv4_1_AC_joint_XX=35558;gnomADv4_1_AC_joint_XY=34654;gnomADv4_1_AF_grpmax_joint=0.655094;gnomADv4_1_AF_joint=0.461623;gnomADv4_1_AF_joint_XX=0.457244;gnomADv4_1_AF_joint_XY=0.466206;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=18719;gnomADv4_1_nhomalt_joint_XX=9442;gnomADv4_1_nhomalt_joint_XY=9277;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28568918 chr22_28568918_A_G A G 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.453;CADD_Rawscore=0.079701;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+60634T>C|||||||rs5762694||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28568918A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+60634T>C|||||||rs5762694||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28568918A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+60634T>C|||||||rs5762694||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28568918A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+60634T>C|||||||rs5762694||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28568918A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+60634T>C|||||||rs5762694||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28568918A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+60634T>C|||||||rs5762694||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28568918A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+60634T>C|||||||rs5762694||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28568918A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+60634T>C|||||||rs5762694||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28568918A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+60634T>C|||||||rs5762694||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28568918A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+60634T>C|||||||rs5762694||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28568918A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||||||||||rs5762694|4081|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28568918A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|10|-18|-33|39;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=99556;gnomADv4_1_AC_joint_XX=50774;gnomADv4_1_AC_joint_XY=48782;gnomADv4_1_AF_grpmax_joint=0.782121;gnomADv4_1_AF_joint=0.655465;gnomADv4_1_AF_joint_XX=0.653681;gnomADv4_1_AF_joint_XY=0.657333;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=151886;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74212;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=33466;gnomADv4_1_nhomalt_joint_XX=17084;gnomADv4_1_nhomalt_joint_XY=16382;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28569151 chr22_28569151_C_CAAAT;chr22_28569151_CAAATAAAT_C C CAAAT 45 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.787;CADDIndel_Rawscore=-0.079354;CSQ=AAAT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+60397_381+60400dup|||||||rs33998799||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28569195_28569198dup|||||||||||||,AAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+60397_381+60400dup|||||||rs33998799||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28569195_28569198dup|||||||||||||,AAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+60397_381+60400dup|||||||rs33998799||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28569195_28569198dup|||||||||||||,AAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+60397_303+60400dup|||||||rs33998799||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28569195_28569198dup|||||||||||||,AAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+60397_381+60400dup|||||||rs33998799||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28569195_28569198dup|||||||||||||,AAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+60397_381+60400dup|||||||rs33998799||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28569195_28569198dup|||||||||||||,AAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+60397_381+60400dup|||||||rs33998799||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28569195_28569198dup|||||||||||||,AAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+60397_291+60400dup|||||||rs33998799||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28569195_28569198dup|||||||||||||,AAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+60397_303+60400dup|||||||rs33998799||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28569195_28569198dup|||||||||||||,AAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+60397_75+60400dup|||||||rs33998799||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28569195_28569198dup|||||||||||||,AAAT|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||||||||||rs33998799|4314|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.28569195_28569198dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45171;gnomADv4_1_AC_joint_XX=23552;gnomADv4_1_AC_joint_XY=21619;gnomADv4_1_AF_grpmax_joint=0.460432;gnomADv4_1_AF_joint=0.332849;gnomADv4_1_AF_joint_XX=0.333475;gnomADv4_1_AF_joint_XY=0.332171;gnomADv4_1_AN_grpmax_joint=278;gnomADv4_1_AN_joint=135710;gnomADv4_1_AN_joint_XX=70626;gnomADv4_1_AN_joint_XY=65084;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8115;gnomADv4_1_nhomalt_joint_XX=4235;gnomADv4_1_nhomalt_joint_XY=3880;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28569151 chr22_28569151_C_CAAAT;chr22_28569151_CAAATAAAT_C CAAATAAAT C 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.667;CADDIndel_Rawscore=-0.121129;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+60393_381+60400del|||||||rs33998799||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||AAATAAAT|AAATAAAT||||chr22:g.28569191_28569198del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+60393_381+60400del|||||||rs33998799||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||AAATAAAT|AAATAAAT||||chr22:g.28569191_28569198del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+60393_381+60400del|||||||rs33998799||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||AAATAAAT|AAATAAAT||||chr22:g.28569191_28569198del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+60393_303+60400del|||||||rs33998799||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||AAATAAAT|AAATAAAT||||chr22:g.28569191_28569198del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+60393_381+60400del|||||||rs33998799||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||AAATAAAT|AAATAAAT||||chr22:g.28569191_28569198del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+60393_381+60400del|||||||rs33998799||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||AAATAAAT|AAATAAAT||||chr22:g.28569191_28569198del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+60393_381+60400del|||||||rs33998799||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||AAATAAAT|AAATAAAT||||chr22:g.28569191_28569198del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+60393_291+60400del|||||||rs33998799||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||AAATAAAT|AAATAAAT||||chr22:g.28569191_28569198del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+60393_303+60400del|||||||rs33998799||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||AAATAAAT|AAATAAAT||||chr22:g.28569191_28569198del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+60393_75+60400del|||||||rs33998799||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||AAATAAAT|AAATAAAT||||chr22:g.28569191_28569198del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929594|101929594|Transcript|XR_007068041.1|lncRNA||||||||||rs33998799|4315|-1||EntrezGene||||||||||RefSeq||AAATAAAT|AAATAAAT||||chr22:g.28569191_28569198del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1,XR_007068041.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331,101929594;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,LOC101929594;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41620;gnomADv4_1_AC_joint_XX=21600;gnomADv4_1_AC_joint_XY=20020;gnomADv4_1_AF_grpmax_joint=0.316632;gnomADv4_1_AF_joint=0.306403;gnomADv4_1_AF_joint_XX=0.305698;gnomADv4_1_AF_joint_XY=0.307168;gnomADv4_1_AN_grpmax_joint=36424;gnomADv4_1_AN_joint=135834;gnomADv4_1_AN_joint_XX=70658;gnomADv4_1_AN_joint_XY=65176;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6495;gnomADv4_1_nhomalt_joint_XX=3392;gnomADv4_1_nhomalt_joint_XY=3103;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28569867 chr22_28569867_C_A C A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=3.193;CADD_Rawscore=0.292695;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+59685G>T|||||||rs2346866||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28569867C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+59685G>T|||||||rs2346866||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28569867C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+59685G>T|||||||rs2346866||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28569867C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+59685G>T|||||||rs2346866||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28569867C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+59685G>T|||||||rs2346866||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28569867C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+59685G>T|||||||rs2346866||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28569867C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+59685G>T|||||||rs2346866||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28569867C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+59685G>T|||||||rs2346866||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28569867C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+59685G>T|||||||rs2346866||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28569867C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+59685G>T|||||||rs2346866||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28569867C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|2|39|41|5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=150633;gnomADv4_1_AC_joint_XX=76971;gnomADv4_1_AC_joint_XY=73662;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.989249;gnomADv4_1_AF_joint_XX=0.98937;gnomADv4_1_AF_joint_XY=0.989123;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152270;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=74533;gnomADv4_1_nhomalt_joint_XX=38091;gnomADv4_1_nhomalt_joint_XY=36442;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28570058 chr22_28570058_C_T C T 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.385;CADD_Rawscore=-0.25855;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+59494G>A|||||||rs5762696||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28570058C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+59494G>A|||||||rs5762696||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28570058C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+59494G>A|||||||rs5762696||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28570058C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+59494G>A|||||||rs5762696||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28570058C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+59494G>A|||||||rs5762696||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28570058C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+59494G>A|||||||rs5762696||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28570058C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+59494G>A|||||||rs5762696||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28570058C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+59494G>A|||||||rs5762696||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28570058C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+59494G>A|||||||rs5762696||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28570058C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+59494G>A|||||||rs5762696||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28570058C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-30|10|-3|-43;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=150727;gnomADv4_1_AC_joint_XX=77050;gnomADv4_1_AC_joint_XY=73677;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.989412;gnomADv4_1_AF_joint_XX=0.989648;gnomADv4_1_AF_joint_XY=0.989165;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152340;gnomADv4_1_AN_joint_XX=77856;gnomADv4_1_AN_joint_XY=74484;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=74592;gnomADv4_1_nhomalt_joint_XX=38141;gnomADv4_1_nhomalt_joint_XY=36451;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28570060 chr22_28570060_T_C T C 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.368;CADD_Rawscore=0.063898;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+59492A>G|||||||rs34593692||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28570060T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+59492A>G|||||||rs34593692||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28570060T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+59492A>G|||||||rs34593692||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28570060T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+59492A>G|||||||rs34593692||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28570060T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+59492A>G|||||||rs34593692||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28570060T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+59492A>G|||||||rs34593692||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28570060T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+59492A>G|||||||rs34593692||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28570060T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+59492A>G|||||||rs34593692||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28570060T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+59492A>G|||||||rs34593692||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28570060T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+59492A>G|||||||rs34593692||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28570060T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-1|8|-1|8;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33807;gnomADv4_1_AC_joint_XX=17412;gnomADv4_1_AC_joint_XY=16395;gnomADv4_1_AF_grpmax_joint=0.247072;gnomADv4_1_AF_joint=0.222207;gnomADv4_1_AF_joint_XX=0.223856;gnomADv4_1_AF_joint_XY=0.220481;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3973;gnomADv4_1_nhomalt_joint_XX=2089;gnomADv4_1_nhomalt_joint_XY=1884;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28571963 chr22_28571963_A_C A C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.077;CADD_Rawscore=-0.683178;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+57589T>G|||||||rs5752758||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28571963A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+57589T>G|||||||rs5752758||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28571963A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+57589T>G|||||||rs5752758||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28571963A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+57589T>G|||||||rs5752758||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28571963A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+57589T>G|||||||rs5752758||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28571963A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+57589T>G|||||||rs5752758||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28571963A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+57589T>G|||||||rs5752758||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28571963A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+57589T>G|||||||rs5752758||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28571963A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+57589T>G|||||||rs5752758||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28571963A>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+57589T>G|||||||rs5752758||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28571963A>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-42|-11|-42|2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=145673;gnomADv4_1_AC_joint_XX=74723;gnomADv4_1_AC_joint_XY=70950;gnomADv4_1_AF_grpmax_joint=0.988465;gnomADv4_1_AF_joint=0.982843;gnomADv4_1_AF_joint_XX=0.983068;gnomADv4_1_AF_joint_XY=0.982605;gnomADv4_1_AN_grpmax_joint=66926;gnomADv4_1_AN_joint=148216;gnomADv4_1_AN_joint_XX=76010;gnomADv4_1_AN_joint_XY=72206;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=71613;gnomADv4_1_nhomalt_joint_XX=36745;gnomADv4_1_nhomalt_joint_XY=34868;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28573365 chr22_28573365_A_G A G 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.796;CADD_Rawscore=0.135466;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+56187T>C|||||||rs2346867||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28573365A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+56187T>C|||||||rs2346867||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28573365A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+56187T>C|||||||rs2346867||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28573365A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+56187T>C|||||||rs2346867||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28573365A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+56187T>C|||||||rs2346867||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28573365A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+56187T>C|||||||rs2346867||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28573365A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+56187T>C|||||||rs2346867||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28573365A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+56187T>C|||||||rs2346867||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28573365A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+56187T>C|||||||rs2346867||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28573365A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+56187T>C|||||||rs2346867||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28573365A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|10|-13|-21|6;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32917;gnomADv4_1_AC_joint_XX=16940;gnomADv4_1_AC_joint_XY=15977;gnomADv4_1_AF_grpmax_joint=0.245915;gnomADv4_1_AF_joint=0.218419;gnomADv4_1_AF_joint_XX=0.219606;gnomADv4_1_AF_joint_XY=0.217173;gnomADv4_1_AN_grpmax_joint=67686;gnomADv4_1_AN_joint=150706;gnomADv4_1_AN_joint_XX=77138;gnomADv4_1_AN_joint_XY=73568;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3796;gnomADv4_1_nhomalt_joint_XX=1983;gnomADv4_1_nhomalt_joint_XY=1813;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28576196 chr22_28576196_T_C T C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=4.988;CADD_Rawscore=0.454752;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+53356A>G|||||||rs9608692||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28576196T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+53356A>G|||||||rs9608692||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28576196T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+53356A>G|||||||rs9608692||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28576196T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+53356A>G|||||||rs9608692||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28576196T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+53356A>G|||||||rs9608692||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28576196T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+53356A>G|||||||rs9608692||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28576196T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+53356A>G|||||||rs9608692||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28576196T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+53356A>G|||||||rs9608692||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28576196T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+53356A>G|||||||rs9608692||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28576196T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+53356A>G|||||||rs9608692||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28576196T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|41|-36|0|-6;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41220;gnomADv4_1_AC_joint_XX=21156;gnomADv4_1_AC_joint_XY=20064;gnomADv4_1_AF_grpmax_joint=0.408163;gnomADv4_1_AF_joint=0.271474;gnomADv4_1_AF_joint_XX=0.272502;gnomADv4_1_AF_joint_XY=0.270397;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151838;gnomADv4_1_AN_joint_XX=77636;gnomADv4_1_AN_joint_XY=74202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6994;gnomADv4_1_nhomalt_joint_XX=3626;gnomADv4_1_nhomalt_joint_XY=3368;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28579581 chr22_28579581_G_GTA G GTA 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.258;CADDIndel_Rawscore=-0.361215;CSQ=TA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+49969_381+49970dup|||||||rs138886444||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28579594_28579595dup|||||||||||||,TA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+49969_381+49970dup|||||||rs138886444||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28579594_28579595dup|||||||||||||,TA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+49969_381+49970dup|||||||rs138886444||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28579594_28579595dup|||||||||||||,TA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+49969_303+49970dup|||||||rs138886444||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28579594_28579595dup|||||||||||||,TA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+49969_381+49970dup|||||||rs138886444||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28579594_28579595dup|||||||||||||,TA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+49969_381+49970dup|||||||rs138886444||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28579594_28579595dup|||||||||||||,TA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+49969_381+49970dup|||||||rs138886444||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28579594_28579595dup|||||||||||||,TA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+49969_291+49970dup|||||||rs138886444||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28579594_28579595dup|||||||||||||,TA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+49969_303+49970dup|||||||rs138886444||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28579594_28579595dup|||||||||||||,TA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+49969_75+49970dup|||||||rs138886444||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28579594_28579595dup|||||||||||||;TYPE=INDEL;VEP_Allele=TA,TA,TA,TA,TA,TA,TA,TA,TA,TA;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21315;gnomADv4_1_AC_joint_XX=10754;gnomADv4_1_AC_joint_XY=10561;gnomADv4_1_AF_grpmax_joint=0.206522;gnomADv4_1_AF_joint=0.144303;gnomADv4_1_AF_joint_XX=0.141847;gnomADv4_1_AF_joint_XY=0.146893;gnomADv4_1_AN_grpmax_joint=276;gnomADv4_1_AN_joint=147710;gnomADv4_1_AN_joint_XX=75814;gnomADv4_1_AN_joint_XY=71896;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1624;gnomADv4_1_nhomalt_joint_XX=800;gnomADv4_1_nhomalt_joint_XY=824;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28580169 chr22_28580169_G_C G C 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.582;CADD_Rawscore=-0.155078;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+49383C>G|||||||rs60410397||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28580169G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+49383C>G|||||||rs60410397||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28580169G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+49383C>G|||||||rs60410397||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28580169G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+49383C>G|||||||rs60410397||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28580169G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+49383C>G|||||||rs60410397||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28580169G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+49383C>G|||||||rs60410397||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28580169G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+49383C>G|||||||rs60410397||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28580169G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+49383C>G|||||||rs60410397||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28580169G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+49383C>G|||||||rs60410397||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28580169G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+49383C>G|||||||rs60410397||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28580169G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-1|-3|-39|-34;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20686;gnomADv4_1_AC_joint_XX=10262;gnomADv4_1_AC_joint_XY=10424;gnomADv4_1_AF_grpmax_joint=0.386953;gnomADv4_1_AF_joint=0.136038;gnomADv4_1_AF_joint_XX=0.132001;gnomADv4_1_AF_joint_XY=0.140262;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152060;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1790;gnomADv4_1_nhomalt_joint_XX=813;gnomADv4_1_nhomalt_joint_XY=977;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28584021 chr22_28584021_T_G T G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.608;CADD_Rawscore=-0.144152;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+45531A>C|||||||rs4820789||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28584021T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+45531A>C|||||||rs4820789||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28584021T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+45531A>C|||||||rs4820789||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28584021T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+45531A>C|||||||rs4820789||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28584021T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+45531A>C|||||||rs4820789||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28584021T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+45531A>C|||||||rs4820789||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28584021T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+45531A>C|||||||rs4820789||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28584021T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+45531A>C|||||||rs4820789||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28584021T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+45531A>C|||||||rs4820789||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28584021T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+45531A>C|||||||rs4820789||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28584021T>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-42|3|-17|18;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68466;gnomADv4_1_AC_joint_XX=35345;gnomADv4_1_AC_joint_XY=33121;gnomADv4_1_AF_grpmax_joint=0.688441;gnomADv4_1_AF_joint=0.576886;gnomADv4_1_AF_joint_XX=0.573131;gnomADv4_1_AF_joint_XY=0.580948;gnomADv4_1_AN_grpmax_joint=11818;gnomADv4_1_AN_joint=118682;gnomADv4_1_AN_joint_XX=61670;gnomADv4_1_AN_joint_XY=57012;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=17237;gnomADv4_1_nhomalt_joint_XX=8735;gnomADv4_1_nhomalt_joint_XY=8502;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28584026 chr22_28584026_T_G T G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.603;CADD_Rawscore=-0.146237;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+45526A>C|||||||rs5762700||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28584026T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+45526A>C|||||||rs5762700||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28584026T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+45526A>C|||||||rs5762700||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28584026T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+45526A>C|||||||rs5762700||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28584026T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+45526A>C|||||||rs5762700||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28584026T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+45526A>C|||||||rs5762700||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28584026T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+45526A>C|||||||rs5762700||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28584026T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+45526A>C|||||||rs5762700||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28584026T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+45526A>C|||||||rs5762700||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28584026T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+45526A>C|||||||rs5762700||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28584026T>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-41|-2|6|13;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21540;gnomADv4_1_AC_joint_XX=10907;gnomADv4_1_AC_joint_XY=10633;gnomADv4_1_AF_grpmax_joint=0.229452;gnomADv4_1_AF_joint=0.146642;gnomADv4_1_AF_joint_XX=0.14494;gnomADv4_1_AF_joint_XY=0.148431;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=146888;gnomADv4_1_AN_joint_XX=75252;gnomADv4_1_AN_joint_XY=71636;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1617;gnomADv4_1_nhomalt_joint_XX=818;gnomADv4_1_nhomalt_joint_XY=799;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28584585 chr22_28584585_G_T G T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.637;CADD_Rawscore=-0.13249;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+44967C>A|||||||rs113792350||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28584585G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+44967C>A|||||||rs113792350||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28584585G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+44967C>A|||||||rs113792350||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28584585G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+44967C>A|||||||rs113792350||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28584585G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+44967C>A|||||||rs113792350||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28584585G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+44967C>A|||||||rs113792350||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28584585G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+44967C>A|||||||rs113792350||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28584585G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+44967C>A|||||||rs113792350||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28584585G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+44967C>A|||||||rs113792350||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28584585G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+44967C>A|||||||rs113792350||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28584585G>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-10|11|48|-33;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5;gnomADv4_1_AC_joint_XX=4;gnomADv4_1_AC_joint_XY=1;gnomADv4_1_AF_grpmax_joint=2.41231e-05;gnomADv4_1_AF_joint=3.28519e-05;gnomADv4_1_AF_joint_XX=5.13901e-05;gnomADv4_1_AF_joint_XY=1.34477e-05;gnomADv4_1_AN_grpmax_joint=41454;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28584972 chr22_28584972_T_TA T TA 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADDIndel_PHREDscore=12.29;CADDIndel_Rawscore=1.21282;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+44579dup|||||||rs5844815||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28584973dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+44579dup|||||||rs5844815||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28584973dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+44579dup|||||||rs5844815||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28584973dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+44579dup|||||||rs5844815||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28584973dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+44579dup|||||||rs5844815||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28584973dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+44579dup|||||||rs5844815||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28584973dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+44579dup|||||||rs5844815||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28584973dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+44579dup|||||||rs5844815||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28584973dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+44579dup|||||||rs5844815||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28584973dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+44579dup|||||||rs5844815||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28584973dup|||||||||||||;SpliceAI=TA|TTC28|0.00|0.00|0.00|0.00|-21|28|-25|-21;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41272;gnomADv4_1_AC_joint_XX=21191;gnomADv4_1_AC_joint_XY=20081;gnomADv4_1_AF_grpmax_joint=0.408163;gnomADv4_1_AF_joint=0.271498;gnomADv4_1_AF_joint_XX=0.272602;gnomADv4_1_AF_joint_XY=0.270342;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152016;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6997;gnomADv4_1_nhomalt_joint_XX=3626;gnomADv4_1_nhomalt_joint_XY=3371;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28586046 chr22_28586046_T_C T C 49 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.302;CADD_Rawscore=-0.320615;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+43506A>G|||||||rs5762701||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28586046T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+43506A>G|||||||rs5762701||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28586046T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+43506A>G|||||||rs5762701||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28586046T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+43506A>G|||||||rs5762701||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28586046T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+43506A>G|||||||rs5762701||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28586046T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+43506A>G|||||||rs5762701||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28586046T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+43506A>G|||||||rs5762701||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28586046T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+43506A>G|||||||rs5762701||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28586046T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+43506A>G|||||||rs5762701||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28586046T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+43506A>G|||||||rs5762701||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28586046T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-12|-2|-25|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=150287;gnomADv4_1_AC_joint_XX=76842;gnomADv4_1_AC_joint_XY=73445;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.989772;gnomADv4_1_AF_joint_XX=0.990028;gnomADv4_1_AF_joint_XY=0.989505;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151840;gnomADv4_1_AN_joint_XX=77616;gnomADv4_1_AN_joint_XY=74224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=74401;gnomADv4_1_nhomalt_joint_XX=38053;gnomADv4_1_nhomalt_joint_XY=36348;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28586047 chr22_28586047_G_A G A 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.322;CADD_Rawscore=-0.304265;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+43505C>T|||||||rs5752761||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28586047G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+43505C>T|||||||rs5752761||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28586047G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+43505C>T|||||||rs5752761||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28586047G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+43505C>T|||||||rs5752761||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28586047G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+43505C>T|||||||rs5752761||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28586047G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+43505C>T|||||||rs5752761||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28586047G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+43505C>T|||||||rs5752761||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28586047G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+43505C>T|||||||rs5752761||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28586047G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+43505C>T|||||||rs5752761||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28586047G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+43505C>T|||||||rs5752761||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28586047G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-3|42|-3|-26;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=150186;gnomADv4_1_AC_joint_XX=76789;gnomADv4_1_AC_joint_XY=73397;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.989094;gnomADv4_1_AF_joint_XX=0.989319;gnomADv4_1_AF_joint_XY=0.988858;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151842;gnomADv4_1_AN_joint_XX=77618;gnomADv4_1_AN_joint_XY=74224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=74300;gnomADv4_1_nhomalt_joint_XX=37999;gnomADv4_1_nhomalt_joint_XY=36301;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28586955 chr22_28586955_C_A C A 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=0.392;CADD_Rawscore=-0.254477;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+42597G>T|||||||rs5762702||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28586955C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+42597G>T|||||||rs5762702||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28586955C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+42597G>T|||||||rs5762702||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28586955C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+42597G>T|||||||rs5762702||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28586955C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+42597G>T|||||||rs5762702||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28586955C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+42597G>T|||||||rs5762702||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28586955C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+42597G>T|||||||rs5762702||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28586955C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+42597G>T|||||||rs5762702||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28586955C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+42597G>T|||||||rs5762702||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28586955C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+42597G>T|||||||rs5762702||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28586955C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-22|5|-14|5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29002;gnomADv4_1_AC_joint_XX=14419;gnomADv4_1_AC_joint_XY=14583;gnomADv4_1_AF_grpmax_joint=0.374182;gnomADv4_1_AF_joint=0.19065;gnomADv4_1_AF_joint_XX=0.185406;gnomADv4_1_AF_joint_XY=0.196135;gnomADv4_1_AN_grpmax_joint=15276;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=3356;gnomADv4_1_nhomalt_joint_XX=1585;gnomADv4_1_nhomalt_joint_XY=1771;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28587607 chr22_28587607_T_A T A 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=6.088;CADD_Rawscore=0.562116;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+41945A>T|||||||rs1986052||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28587607T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+41945A>T|||||||rs1986052||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28587607T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+41945A>T|||||||rs1986052||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28587607T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+41945A>T|||||||rs1986052||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28587607T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+41945A>T|||||||rs1986052||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28587607T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+41945A>T|||||||rs1986052||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28587607T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+41945A>T|||||||rs1986052||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28587607T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+41945A>T|||||||rs1986052||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28587607T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+41945A>T|||||||rs1986052||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28587607T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+41945A>T|||||||rs1986052||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28587607T>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|11|-2|-11|39;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50412;gnomADv4_1_AC_joint_XX=25952;gnomADv4_1_AC_joint_XY=24460;gnomADv4_1_AF_grpmax_joint=0.486159;gnomADv4_1_AF_joint=0.333016;gnomADv4_1_AF_joint_XX=0.335159;gnomADv4_1_AF_joint_XY=0.330773;gnomADv4_1_AN_grpmax_joint=41254;gnomADv4_1_AN_joint=151380;gnomADv4_1_AN_joint_XX=77432;gnomADv4_1_AN_joint_XY=73948;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9169;gnomADv4_1_nhomalt_joint_XX=4812;gnomADv4_1_nhomalt_joint_XY=4357;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28588141 chr22_28588141_C_CA C CA 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.596;CADDIndel_Rawscore=-0.149348;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+41410dup|||||||rs59061860||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28588152dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+41410dup|||||||rs59061860||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28588152dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+41410dup|||||||rs59061860||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28588152dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+41410dup|||||||rs59061860||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28588152dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+41410dup|||||||rs59061860||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28588152dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+41410dup|||||||rs59061860||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28588152dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+41410dup|||||||rs59061860||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28588152dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+41410dup|||||||rs59061860||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28588152dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+41410dup|||||||rs59061860||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28588152dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+41410dup|||||||rs59061860||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28588152dup|||||||||||||;SpliceAI=CA|TTC28|0.00|0.00|0.00|0.00|-3|43|2|3;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61002;gnomADv4_1_AC_joint_XX=31228;gnomADv4_1_AC_joint_XY=29774;gnomADv4_1_AF_grpmax_joint=0.629991;gnomADv4_1_AF_joint=0.440225;gnomADv4_1_AF_joint_XX=0.437563;gnomADv4_1_AF_joint_XY=0.443052;gnomADv4_1_AN_grpmax_joint=4508;gnomADv4_1_AN_joint=138570;gnomADv4_1_AN_joint_XX=71368;gnomADv4_1_AN_joint_XY=67202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=14489;gnomADv4_1_nhomalt_joint_XX=7443;gnomADv4_1_nhomalt_joint_XY=7046;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28588459 chr22_28588459_G_T G T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.673;CADD_Rawscore=0.241995;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+41093C>A|||||||rs1125250||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28588459G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+41093C>A|||||||rs1125250||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28588459G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+41093C>A|||||||rs1125250||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28588459G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+41093C>A|||||||rs1125250||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28588459G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+41093C>A|||||||rs1125250||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28588459G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+41093C>A|||||||rs1125250||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28588459G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+41093C>A|||||||rs1125250||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28588459G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+41093C>A|||||||rs1125250||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28588459G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+41093C>A|||||||rs1125250||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28588459G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+41093C>A|||||||rs1125250||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28588459G>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|38|19|-22;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37118;gnomADv4_1_AC_joint_XX=19159;gnomADv4_1_AC_joint_XY=17959;gnomADv4_1_AF_grpmax_joint=0.268588;gnomADv4_1_AF_joint=0.244188;gnomADv4_1_AF_joint_XX=0.246602;gnomADv4_1_AF_joint_XY=0.241664;gnomADv4_1_AN_grpmax_joint=41424;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4710;gnomADv4_1_nhomalt_joint_XX=2474;gnomADv4_1_nhomalt_joint_XY=2236;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28589338 chr22_28589338_T_C T C 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=4.495;CADD_Rawscore=0.409438;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+40214A>G|||||||rs738724||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28589338T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+40214A>G|||||||rs738724||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28589338T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+40214A>G|||||||rs738724||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28589338T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+40214A>G|||||||rs738724||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28589338T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+40214A>G|||||||rs738724||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28589338T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+40214A>G|||||||rs738724||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28589338T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+40214A>G|||||||rs738724||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28589338T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+40214A>G|||||||rs738724||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28589338T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+40214A>G|||||||rs738724||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28589338T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+40214A>G|||||||rs738724||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28589338T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|26|-2|-22|-13;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13127;gnomADv4_1_AC_joint_XX=6601;gnomADv4_1_AC_joint_XY=6526;gnomADv4_1_AF_grpmax_joint=0.170068;gnomADv4_1_AF_joint=0.0862302;gnomADv4_1_AF_joint_XX=0.0848392;gnomADv4_1_AF_joint_XY=0.0876844;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152232;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=701;gnomADv4_1_nhomalt_joint_XX=333;gnomADv4_1_nhomalt_joint_XY=368;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28590034 chr22_28590034_CAAAAAAAAAAAAAA_C CAAAAAAAAAAAAAA C 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.75;AF_XX=.;AF_XY=0.75;AN=4;AN_XX=0;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.41;CADDIndel_Rawscore=-0.242847;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+39504_381+39517del|||||||rs71194779||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||AAAAAAAAAAAAAA|AAAAAAAAAAAAAA||||chr22:g.28590049_28590062del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+39504_381+39517del|||||||rs71194779||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||AAAAAAAAAAAAAA|AAAAAAAAAAAAAA||||chr22:g.28590049_28590062del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+39504_381+39517del|||||||rs71194779||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||AAAAAAAAAAAAAA|AAAAAAAAAAAAAA||||chr22:g.28590049_28590062del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+39504_303+39517del|||||||rs71194779||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||AAAAAAAAAAAAAA|AAAAAAAAAAAAAA||||chr22:g.28590049_28590062del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+39504_381+39517del|||||||rs71194779||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||AAAAAAAAAAAAAA|AAAAAAAAAAAAAA||||chr22:g.28590049_28590062del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+39504_381+39517del|||||||rs71194779||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||AAAAAAAAAAAAAA|AAAAAAAAAAAAAA||||chr22:g.28590049_28590062del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+39504_381+39517del|||||||rs71194779||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||AAAAAAAAAAAAAA|AAAAAAAAAAAAAA||||chr22:g.28590049_28590062del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+39504_291+39517del|||||||rs71194779||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||AAAAAAAAAAAAAA|AAAAAAAAAAAAAA||||chr22:g.28590049_28590062del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+39504_303+39517del|||||||rs71194779||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||AAAAAAAAAAAAAA|AAAAAAAAAAAAAA||||chr22:g.28590049_28590062del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+39504_75+39517del|||||||rs71194779||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||AAAAAAAAAAAAAA|AAAAAAAAAAAAAA||||chr22:g.28590049_28590062del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35620;gnomADv4_1_AC_joint_XX=19021;gnomADv4_1_AC_joint_XY=16599;gnomADv4_1_AF_grpmax_joint=0.6356;gnomADv4_1_AF_joint=0.512562;gnomADv4_1_AF_joint_XX=0.504884;gnomADv4_1_AF_joint_XY=0.521653;gnomADv4_1_AN_grpmax_joint=2500;gnomADv4_1_AN_joint=69494;gnomADv4_1_AN_joint_XX=37674;gnomADv4_1_AN_joint_XY=31820;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=7022;gnomADv4_1_nhomalt_joint_XX=3650;gnomADv4_1_nhomalt_joint_XY=3372;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28591030 chr22_28591030_CACACACACACATAT_C;chr22_28591030_CACACACACACATATAT_C;chr22_28591034_CACACACATATATATAT_C CACACACACACATAT C 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=23;CADDIndel_PHREDscore=0.281;CADDIndel_Rawscore=-0.339232;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+38508_381+38521del|||||||rs1178250478||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||ACACACACACATAT|ACACACACACATAT||||chr22:g.28591032_28591045del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+38508_381+38521del|||||||rs1178250478||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||ACACACACACATAT|ACACACACACATAT||||chr22:g.28591032_28591045del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+38508_381+38521del|||||||rs1178250478||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||ACACACACACATAT|ACACACACACATAT||||chr22:g.28591032_28591045del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+38508_303+38521del|||||||rs1178250478||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||ACACACACACATAT|ACACACACACATAT||||chr22:g.28591032_28591045del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+38508_381+38521del|||||||rs1178250478||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||ACACACACACATAT|ACACACACACATAT||||chr22:g.28591032_28591045del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+38508_381+38521del|||||||rs1178250478||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||ACACACACACATAT|ACACACACACATAT||||chr22:g.28591032_28591045del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+38508_381+38521del|||||||rs1178250478||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||ACACACACACATAT|ACACACACACATAT||||chr22:g.28591032_28591045del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+38508_291+38521del|||||||rs1178250478||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||ACACACACACATAT|ACACACACACATAT||||chr22:g.28591032_28591045del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+38508_303+38521del|||||||rs1178250478||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||ACACACACACATAT|ACACACACACATAT||||chr22:g.28591032_28591045del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+38508_75+38521del|||||||rs1178250478||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||ACACACACACATAT|ACACACACACATAT||||chr22:g.28591032_28591045del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=858;gnomADv4_1_AC_joint_XX=483;gnomADv4_1_AC_joint_XY=375;gnomADv4_1_AF_grpmax_joint=0.0189961;gnomADv4_1_AF_joint=0.0126254;gnomADv4_1_AF_joint_XX=0.0129013;gnomADv4_1_AF_joint_XY=0.012287;gnomADv4_1_AN_grpmax_joint=34586;gnomADv4_1_AN_joint=67958;gnomADv4_1_AN_joint_XX=37438;gnomADv4_1_AN_joint_XY=30520;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28591030 chr22_28591030_CACACACACACATAT_C;chr22_28591030_CACACACACACATATAT_C;chr22_28591034_CACACACATATATATAT_C CACACACACACATATAT C 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=23;CADDIndel_PHREDscore=0.274;CADDIndel_Rawscore=-0.345706;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+38506_381+38521del|||||||rs1480425860||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||ACACACACACATATAT|ACACACACACATATAT||||chr22:g.28591032_28591047del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+38506_381+38521del|||||||rs1480425860||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||ACACACACACATATAT|ACACACACACATATAT||||chr22:g.28591032_28591047del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+38506_381+38521del|||||||rs1480425860||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||ACACACACACATATAT|ACACACACACATATAT||||chr22:g.28591032_28591047del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+38506_303+38521del|||||||rs1480425860||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||ACACACACACATATAT|ACACACACACATATAT||||chr22:g.28591032_28591047del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+38506_381+38521del|||||||rs1480425860||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||ACACACACACATATAT|ACACACACACATATAT||||chr22:g.28591032_28591047del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+38506_381+38521del|||||||rs1480425860||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||ACACACACACATATAT|ACACACACACATATAT||||chr22:g.28591032_28591047del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+38506_381+38521del|||||||rs1480425860||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||ACACACACACATATAT|ACACACACACATATAT||||chr22:g.28591032_28591047del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+38506_291+38521del|||||||rs1480425860||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||ACACACACACATATAT|ACACACACACATATAT||||chr22:g.28591032_28591047del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+38506_303+38521del|||||||rs1480425860||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||ACACACACACATATAT|ACACACACACATATAT||||chr22:g.28591032_28591047del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+38506_75+38521del|||||||rs1480425860||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||ACACACACACATATAT|ACACACACACATATAT||||chr22:g.28591032_28591047del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=497;gnomADv4_1_AC_joint_XX=287;gnomADv4_1_AC_joint_XY=210;gnomADv4_1_AF_grpmax_joint=0.00982573;gnomADv4_1_AF_joint=0.00727118;gnomADv4_1_AF_joint_XX=0.00762487;gnomADv4_1_AF_joint_XY=0.00683772;gnomADv4_1_AN_grpmax_joint=5394;gnomADv4_1_AN_joint=68352;gnomADv4_1_AN_joint_XX=37640;gnomADv4_1_AN_joint_XY=30712;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28591034 chr22_28591030_CACACACACACATAT_C;chr22_28591030_CACACACACACATATAT_C;chr22_28591034_CACACACATATATATAT_C CACACACATATATATAT C 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=22;CADDIndel_PHREDscore=0.274;CADDIndel_Rawscore=-0.345058;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+38502_381+38517del|||||||rs1179160189||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||ACACACATATATATAT|ACACACATATATATAT||||chr22:g.28591036_28591051del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+38502_381+38517del|||||||rs1179160189||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||ACACACATATATATAT|ACACACATATATATAT||||chr22:g.28591036_28591051del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+38502_381+38517del|||||||rs1179160189||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||ACACACATATATATAT|ACACACATATATATAT||||chr22:g.28591036_28591051del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+38502_303+38517del|||||||rs1179160189||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||ACACACATATATATAT|ACACACATATATATAT||||chr22:g.28591036_28591051del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+38502_381+38517del|||||||rs1179160189||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||ACACACATATATATAT|ACACACATATATATAT||||chr22:g.28591036_28591051del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+38502_381+38517del|||||||rs1179160189||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||ACACACATATATATAT|ACACACATATATATAT||||chr22:g.28591036_28591051del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+38502_381+38517del|||||||rs1179160189||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||ACACACATATATATAT|ACACACATATATATAT||||chr22:g.28591036_28591051del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+38502_291+38517del|||||||rs1179160189||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||ACACACATATATATAT|ACACACATATATATAT||||chr22:g.28591036_28591051del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+38502_303+38517del|||||||rs1179160189||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||ACACACATATATATAT|ACACACATATATATAT||||chr22:g.28591036_28591051del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+38502_75+38517del|||||||rs1179160189||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||ACACACATATATATAT|ACACACATATATATAT||||chr22:g.28591036_28591051del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1519;gnomADv4_1_AC_joint_XX=812;gnomADv4_1_AC_joint_XY=707;gnomADv4_1_AF_grpmax_joint=0.0880886;gnomADv4_1_AF_joint=0.0318195;gnomADv4_1_AF_joint_XX=0.0309404;gnomADv4_1_AF_joint_XY=0.0328929;gnomADv4_1_AN_grpmax_joint=3610;gnomADv4_1_AN_joint=47738;gnomADv4_1_AN_joint_XX=26244;gnomADv4_1_AN_joint_XY=21494;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=16;gnomADv4_1_nhomalt_joint_XX=9;gnomADv4_1_nhomalt_joint_XY=7;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28591168 chr22_28591168_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.611;CADD_Rawscore=-0.143208;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+38384C>T|||||||rs187441727||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28591168G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+38384C>T|||||||rs187441727||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28591168G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+38384C>T|||||||rs187441727||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28591168G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+38384C>T|||||||rs187441727||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28591168G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+38384C>T|||||||rs187441727||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28591168G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+38384C>T|||||||rs187441727||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28591168G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+38384C>T|||||||rs187441727||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28591168G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+38384C>T|||||||rs187441727||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28591168G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+38384C>T|||||||rs187441727||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28591168G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+38384C>T|||||||rs187441727||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28591168G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-14|50|-18|-19;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=853;gnomADv4_1_AC_joint_XX=466;gnomADv4_1_AC_joint_XY=387;gnomADv4_1_AF_grpmax_joint=0.0496454;gnomADv4_1_AF_joint=0.00575737;gnomADv4_1_AF_joint_XX=0.00612868;gnomADv4_1_AF_joint_XY=0.00536591;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=148158;gnomADv4_1_AN_joint_XX=76036;gnomADv4_1_AN_joint_XY=72122;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11;gnomADv4_1_nhomalt_joint_XX=8;gnomADv4_1_nhomalt_joint_XY=3;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28591270 chr22_28591270_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.095;CADD_Rawscore=0.0057;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+38282T>C|||||||rs5762706||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28591270A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+38282T>C|||||||rs5762706||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28591270A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+38282T>C|||||||rs5762706||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28591270A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+38282T>C|||||||rs5762706||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28591270A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+38282T>C|||||||rs5762706||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28591270A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+38282T>C|||||||rs5762706||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28591270A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+38282T>C|||||||rs5762706||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28591270A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+38282T>C|||||||rs5762706||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28591270A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+38282T>C|||||||rs5762706||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28591270A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+38282T>C|||||||rs5762706||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28591270A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|0|-9|-47|-3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=148689;gnomADv4_1_AC_joint_XX=76230;gnomADv4_1_AC_joint_XY=72459;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.989242;gnomADv4_1_AF_joint_XX=0.989435;gnomADv4_1_AF_joint_XY=0.989039;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=150306;gnomADv4_1_AN_joint_XX=77044;gnomADv4_1_AN_joint_XY=73262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=73570;gnomADv4_1_nhomalt_joint_XX=37727;gnomADv4_1_nhomalt_joint_XY=35843;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28592307 chr22_28592307_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.325;CADD_Rawscore=0.055557;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+37245A>G|||||||rs738749||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28592307T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+37245A>G|||||||rs738749||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28592307T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+37245A>G|||||||rs738749||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28592307T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+37245A>G|||||||rs738749||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28592307T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+37245A>G|||||||rs738749||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28592307T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+37245A>G|||||||rs738749||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28592307T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+37245A>G|||||||rs738749||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28592307T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+37245A>G|||||||rs738749||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28592307T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+37245A>G|||||||rs738749||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28592307T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+37245A>G|||||||rs738749||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28592307T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|17|3|-15|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152015;gnomADv4_1_AC_joint_XX=77712;gnomADv4_1_AC_joint_XY=74303;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.998798;gnomADv4_1_AF_joint_XX=0.998792;gnomADv4_1_AF_joint_XY=0.998804;gnomADv4_1_AN_grpmax_joint=68038;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=75916;gnomADv4_1_nhomalt_joint_XX=38809;gnomADv4_1_nhomalt_joint_XY=37107;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28593469 chr22_28593469_CTAGG_C CTAGG C 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=1.403;CADDIndel_Rawscore=0.070565;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+36079_381+36082del|||||||rs10542907||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||TAGG|TAGG||||chr22:g.28593512_28593515del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+36079_381+36082del|||||||rs10542907||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||TAGG|TAGG||||chr22:g.28593512_28593515del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+36079_381+36082del|||||||rs10542907||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||TAGG|TAGG||||chr22:g.28593512_28593515del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+36079_303+36082del|||||||rs10542907||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||TAGG|TAGG||||chr22:g.28593512_28593515del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+36079_381+36082del|||||||rs10542907||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||TAGG|TAGG||||chr22:g.28593512_28593515del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+36079_381+36082del|||||||rs10542907||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||TAGG|TAGG||||chr22:g.28593512_28593515del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+36079_381+36082del|||||||rs10542907||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||TAGG|TAGG||||chr22:g.28593512_28593515del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+36079_291+36082del|||||||rs10542907||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||TAGG|TAGG||||chr22:g.28593512_28593515del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+36079_303+36082del|||||||rs10542907||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||TAGG|TAGG||||chr22:g.28593512_28593515del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+36079_75+36082del|||||||rs10542907||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||TAGG|TAGG||||chr22:g.28593512_28593515del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|27|-1|48|-43;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57627;gnomADv4_1_AC_joint_XX=29477;gnomADv4_1_AC_joint_XY=28150;gnomADv4_1_AF_grpmax_joint=0.499129;gnomADv4_1_AF_joint=0.389046;gnomADv4_1_AF_joint_XX=0.387774;gnomADv4_1_AF_joint_XY=0.390387;gnomADv4_1_AN_grpmax_joint=4590;gnomADv4_1_AN_joint=148124;gnomADv4_1_AN_joint_XX=76016;gnomADv4_1_AN_joint_XY=72108;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=11439;gnomADv4_1_nhomalt_joint_XX=5812;gnomADv4_1_nhomalt_joint_XY=5627;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28597195 chr22_28597195_T_C T C 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.106;CADD_Rawscore=-0.594818;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+32357A>G|||||||rs738748||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28597195T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+32357A>G|||||||rs738748||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28597195T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+32357A>G|||||||rs738748||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28597195T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+32357A>G|||||||rs738748||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28597195T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+32357A>G|||||||rs738748||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28597195T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+32357A>G|||||||rs738748||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28597195T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+32357A>G|||||||rs738748||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28597195T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+32357A>G|||||||rs738748||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28597195T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+32357A>G|||||||rs738748||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28597195T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+32357A>G|||||||rs738748||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28597195T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-37|-14|1|16;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30156;gnomADv4_1_AC_joint_XX=15062;gnomADv4_1_AC_joint_XY=15094;gnomADv4_1_AF_grpmax_joint=0.384348;gnomADv4_1_AF_joint=0.198181;gnomADv4_1_AF_joint_XX=0.193689;gnomADv4_1_AF_joint_XY=0.202876;gnomADv4_1_AN_grpmax_joint=15270;gnomADv4_1_AN_joint=152164;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=3591;gnomADv4_1_nhomalt_joint_XX=1720;gnomADv4_1_nhomalt_joint_XY=1871;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28598410 chr22_28598410_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.72;CADD_Rawscore=-0.101792;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+31142C>T|||||||rs113403999||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28598410G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+31142C>T|||||||rs113403999||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28598410G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+31142C>T|||||||rs113403999||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28598410G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+31142C>T|||||||rs113403999||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28598410G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+31142C>T|||||||rs113403999||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28598410G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+31142C>T|||||||rs113403999||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28598410G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+31142C>T|||||||rs113403999||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28598410G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+31142C>T|||||||rs113403999||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28598410G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+31142C>T|||||||rs113403999||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28598410G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+31142C>T|||||||rs113403999||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28598410G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-15|-26|22|-26;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24915;gnomADv4_1_AC_joint_XX=13099;gnomADv4_1_AC_joint_XY=11816;gnomADv4_1_AF_grpmax_joint=0.249178;gnomADv4_1_AF_joint=0.1661;gnomADv4_1_AF_joint_XX=0.170329;gnomADv4_1_AF_joint_XY=0.16165;gnomADv4_1_AN_grpmax_joint=67554;gnomADv4_1_AN_joint=150000;gnomADv4_1_AN_joint_XX=76904;gnomADv4_1_AN_joint_XY=73096;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2780;gnomADv4_1_nhomalt_joint_XX=1468;gnomADv4_1_nhomalt_joint_XY=1312;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28601777 chr22_28601777_G_GACACACAC;chr22_28601777_G_GAC G GACACACAC 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=42;CADDIndel_PHREDscore=0.645;CADDIndel_Rawscore=-0.129588;CSQ=ACACACAC|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+27767_381+27774dup|||||||rs34208241||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28601809_28601816dup|||||||||||||,ACACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+27767_381+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28601809_28601816dup|||||||||||||,ACACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+27767_381+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28601809_28601816dup|||||||||||||,ACACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+27767_303+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28601809_28601816dup|||||||||||||,ACACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+27767_381+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28601809_28601816dup|||||||||||||,ACACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+27767_381+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28601809_28601816dup|||||||||||||,ACACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+27767_381+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28601809_28601816dup|||||||||||||,ACACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+27767_291+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28601809_28601816dup|||||||||||||,ACACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+27767_303+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28601809_28601816dup|||||||||||||,ACACACAC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+27767_75+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28601809_28601816dup|||||||||||||;TYPE=INDEL;VEP_Allele=ACACACAC,ACACACAC,ACACACAC,ACACACAC,ACACACAC,ACACACAC,ACACACAC,ACACACAC,ACACACAC,ACACACAC;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29135;gnomADv4_1_AC_joint_XX=15381;gnomADv4_1_AC_joint_XY=13754;gnomADv4_1_AF_grpmax_joint=0.276709;gnomADv4_1_AF_joint=0.206219;gnomADv4_1_AF_joint_XX=0.209871;gnomADv4_1_AF_joint_XY=0.202283;gnomADv4_1_AN_grpmax_joint=64960;gnomADv4_1_AN_joint=141282;gnomADv4_1_AN_joint_XX=73288;gnomADv4_1_AN_joint_XY=67994;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3446;gnomADv4_1_nhomalt_joint_XX=1851;gnomADv4_1_nhomalt_joint_XY=1595;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28601777 chr22_28601777_G_GACACACAC;chr22_28601777_G_GAC G GAC 42 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=35;CADDIndel_PHREDscore=0.691;CADDIndel_Rawscore=-0.112013;CSQ=AC|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+27773_381+27774dup|||||||rs34208241||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28601815_28601816dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+27773_381+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28601815_28601816dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+27773_381+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28601815_28601816dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+27773_303+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28601815_28601816dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+27773_381+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28601815_28601816dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+27773_381+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28601815_28601816dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+27773_381+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28601815_28601816dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+27773_291+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28601815_28601816dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+27773_303+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28601815_28601816dup|||||||||||||,AC|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+27773_75+27774dup|||||||rs34208241||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28601815_28601816dup|||||||||||||;TYPE=INDEL;VEP_Allele=AC,AC,AC,AC,AC,AC,AC,AC,AC,AC;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35494;gnomADv4_1_AC_joint_XX=18289;gnomADv4_1_AC_joint_XY=17205;gnomADv4_1_AF_grpmax_joint=0.43098;gnomADv4_1_AF_joint=0.251182;gnomADv4_1_AF_joint_XX=0.249434;gnomADv4_1_AF_joint_XY=0.253067;gnomADv4_1_AN_grpmax_joint=13938;gnomADv4_1_AN_joint=141308;gnomADv4_1_AN_joint_XX=73322;gnomADv4_1_AN_joint_XY=67986;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4619;gnomADv4_1_nhomalt_joint_XX=2362;gnomADv4_1_nhomalt_joint_XY=2257;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28603381 chr22_28603381_T_C T C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.455;CADD_Rawscore=0.218797;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+26171A>G|||||||rs9613654||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28603381T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+26171A>G|||||||rs9613654||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28603381T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+26171A>G|||||||rs9613654||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28603381T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+26171A>G|||||||rs9613654||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28603381T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+26171A>G|||||||rs9613654||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28603381T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+26171A>G|||||||rs9613654||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28603381T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+26171A>G|||||||rs9613654||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28603381T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+26171A>G|||||||rs9613654||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28603381T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+26171A>G|||||||rs9613654||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28603381T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+26171A>G|||||||rs9613654||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28603381T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|40|-3|-21|-5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27959;gnomADv4_1_AC_joint_XX=14381;gnomADv4_1_AC_joint_XY=13578;gnomADv4_1_AF_grpmax_joint=0.259622;gnomADv4_1_AF_joint=0.184045;gnomADv4_1_AF_joint_XX=0.185212;gnomADv4_1_AF_joint_XY=0.182824;gnomADv4_1_AN_grpmax_joint=67914;gnomADv4_1_AN_joint=151914;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3309;gnomADv4_1_nhomalt_joint_XX=1701;gnomADv4_1_nhomalt_joint_XY=1608;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28603414 chr22_28603414_G_A G A 60 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.26;CADD_Rawscore=-0.359256;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+26138C>T|||||||rs5752763||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28603414G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+26138C>T|||||||rs5752763||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28603414G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+26138C>T|||||||rs5752763||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28603414G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+26138C>T|||||||rs5752763||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28603414G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+26138C>T|||||||rs5752763||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28603414G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+26138C>T|||||||rs5752763||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28603414G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+26138C>T|||||||rs5752763||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28603414G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+26138C>T|||||||rs5752763||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28603414G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+26138C>T|||||||rs5752763||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28603414G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+26138C>T|||||||rs5752763||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28603414G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|7|-27|7|50;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69704;gnomADv4_1_AC_joint_XX=35335;gnomADv4_1_AC_joint_XY=34369;gnomADv4_1_AF_grpmax_joint=0.65251;gnomADv4_1_AF_joint=0.460804;gnomADv4_1_AF_joint_XX=0.456136;gnomADv4_1_AF_joint_XY=0.465705;gnomADv4_1_AN_grpmax_joint=4780;gnomADv4_1_AN_joint=151266;gnomADv4_1_AN_joint_XX=77466;gnomADv4_1_AN_joint_XY=73800;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=18478;gnomADv4_1_nhomalt_joint_XX=9338;gnomADv4_1_nhomalt_joint_XY=9140;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28604297 chr22_28604297_TTA_T;chr22_28604297_T_TTATA TTA T 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.084;CADDIndel_Rawscore=-0.657116;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+25253_381+25254del|||||||rs35077140||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||TA|TA||||chr22:g.28604321_28604322del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+25253_381+25254del|||||||rs35077140||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||TA|TA||||chr22:g.28604321_28604322del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+25253_381+25254del|||||||rs35077140||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||TA|TA||||chr22:g.28604321_28604322del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+25253_303+25254del|||||||rs35077140||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||TA|TA||||chr22:g.28604321_28604322del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+25253_381+25254del|||||||rs35077140||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||TA|TA||||chr22:g.28604321_28604322del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+25253_381+25254del|||||||rs35077140||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||TA|TA||||chr22:g.28604321_28604322del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+25253_381+25254del|||||||rs35077140||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||TA|TA||||chr22:g.28604321_28604322del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+25253_291+25254del|||||||rs35077140||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||TA|TA||||chr22:g.28604321_28604322del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+25253_303+25254del|||||||rs35077140||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||TA|TA||||chr22:g.28604321_28604322del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+25253_75+25254del|||||||rs35077140||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||TA|TA||||chr22:g.28604321_28604322del|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-47|-23|34|-23;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35898;gnomADv4_1_AC_joint_XX=19252;gnomADv4_1_AC_joint_XY=16646;gnomADv4_1_AF_grpmax_joint=0.402439;gnomADv4_1_AF_joint=0.314173;gnomADv4_1_AF_joint_XX=0.318562;gnomADv4_1_AF_joint_XY=0.309244;gnomADv4_1_AN_grpmax_joint=246;gnomADv4_1_AN_joint=114262;gnomADv4_1_AN_joint_XX=60434;gnomADv4_1_AN_joint_XY=53828;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5997;gnomADv4_1_nhomalt_joint_XX=3269;gnomADv4_1_nhomalt_joint_XY=2728;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28604297 chr22_28604297_TTA_T;chr22_28604297_T_TTATA T TTATA 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.065;CADDIndel_Rawscore=-0.728987;CSQ=TATA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+25251_381+25254dup|||||||rs35077140||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28604319_28604322dup|||||||||||||,TATA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+25251_381+25254dup|||||||rs35077140||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28604319_28604322dup|||||||||||||,TATA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+25251_381+25254dup|||||||rs35077140||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28604319_28604322dup|||||||||||||,TATA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+25251_303+25254dup|||||||rs35077140||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28604319_28604322dup|||||||||||||,TATA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+25251_381+25254dup|||||||rs35077140||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28604319_28604322dup|||||||||||||,TATA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+25251_381+25254dup|||||||rs35077140||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28604319_28604322dup|||||||||||||,TATA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+25251_381+25254dup|||||||rs35077140||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28604319_28604322dup|||||||||||||,TATA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+25251_291+25254dup|||||||rs35077140||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28604319_28604322dup|||||||||||||,TATA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+25251_303+25254dup|||||||rs35077140||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28604319_28604322dup|||||||||||||,TATA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+25251_75+25254dup|||||||rs35077140||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28604319_28604322dup|||||||||||||;TYPE=INDEL;VEP_Allele=TATA,TATA,TATA,TATA,TATA,TATA,TATA,TATA,TATA,TATA;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8832;gnomADv4_1_AC_joint_XX=4659;gnomADv4_1_AC_joint_XY=4173;gnomADv4_1_AF_grpmax_joint=0.102459;gnomADv4_1_AF_joint=0.0774587;gnomADv4_1_AF_joint_XX=0.0773278;gnomADv4_1_AF_joint_XY=0.0776054;gnomADv4_1_AN_grpmax_joint=244;gnomADv4_1_AN_joint=114022;gnomADv4_1_AN_joint_XX=60250;gnomADv4_1_AN_joint_XY=53772;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=445;gnomADv4_1_nhomalt_joint_XX=220;gnomADv4_1_nhomalt_joint_XY=225;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28605801 chr22_28605801_T_C T C 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=10.67;CADD_Rawscore=1.0298;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+23751A>G|||||||rs5762713||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28605801T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+23751A>G|||||||rs5762713||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28605801T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+23751A>G|||||||rs5762713||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28605801T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+23751A>G|||||||rs5762713||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28605801T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+23751A>G|||||||rs5762713||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28605801T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+23751A>G|||||||rs5762713||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28605801T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+23751A>G|||||||rs5762713||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28605801T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+23751A>G|||||||rs5762713||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28605801T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+23751A>G|||||||rs5762713||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28605801T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+23751A>G|||||||rs5762713||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28605801T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|1|-1|1|-1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11979;gnomADv4_1_AC_joint_XX=5947;gnomADv4_1_AC_joint_XY=6032;gnomADv4_1_AF_grpmax_joint=0.145822;gnomADv4_1_AF_joint=0.0786788;gnomADv4_1_AF_joint_XX=0.0764376;gnomADv4_1_AF_joint_XY=0.0810208;gnomADv4_1_AN_grpmax_joint=15272;gnomADv4_1_AN_joint=152252;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=585;gnomADv4_1_nhomalt_joint_XX=263;gnomADv4_1_nhomalt_joint_XY=322;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28606095 chr22_28606095_G_T G T 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.682;CADD_Rawscore=-0.115367;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+23457C>A|||||||rs1018512||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28606095G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+23457C>A|||||||rs1018512||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28606095G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+23457C>A|||||||rs1018512||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28606095G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+23457C>A|||||||rs1018512||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28606095G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+23457C>A|||||||rs1018512||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28606095G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+23457C>A|||||||rs1018512||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28606095G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+23457C>A|||||||rs1018512||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28606095G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+23457C>A|||||||rs1018512||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28606095G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+23457C>A|||||||rs1018512||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28606095G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+23457C>A|||||||rs1018512||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28606095G>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|17|-30|17|-11;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=108848;gnomADv4_1_AC_joint_XX=55827;gnomADv4_1_AC_joint_XY=53021;gnomADv4_1_AF_grpmax_joint=0.843604;gnomADv4_1_AF_joint=0.741138;gnomADv4_1_AF_joint_XX=0.738746;gnomADv4_1_AF_joint_XY=0.743674;gnomADv4_1_AN_grpmax_joint=4706;gnomADv4_1_AN_joint=146866;gnomADv4_1_AN_joint_XX=75570;gnomADv4_1_AN_joint_XY=71296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=40222;gnomADv4_1_nhomalt_joint_XX=20577;gnomADv4_1_nhomalt_joint_XY=19645;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28607133 chr22_28607133_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=2.789;CADD_Rawscore=0.253763;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+22419G>A|||||||rs111354212||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28607133C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+22419G>A|||||||rs111354212||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28607133C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+22419G>A|||||||rs111354212||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28607133C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+22419G>A|||||||rs111354212||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28607133C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+22419G>A|||||||rs111354212||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28607133C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+22419G>A|||||||rs111354212||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28607133C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+22419G>A|||||||rs111354212||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28607133C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+22419G>A|||||||rs111354212||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28607133C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+22419G>A|||||||rs111354212||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28607133C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+22419G>A|||||||rs111354212||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28607133C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|7|-1|7|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4;gnomADv4_1_AC_joint_XX=4;gnomADv4_1_AC_joint_XY=0;gnomADv4_1_AF_grpmax_joint=2.41289e-05;gnomADv4_1_AF_joint=2.6293e-05;gnomADv4_1_AF_joint_XX=5.13967e-05;gnomADv4_1_AF_joint_XY=0.0;gnomADv4_1_AN_grpmax_joint=41444;gnomADv4_1_AN_joint=152132;gnomADv4_1_AN_joint_XX=77826;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28611495 chr22_28611495_C_CTTTTTT C CTTTTTT 46 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.562;CADDIndel_Rawscore=-0.164042;CSQ=TTTTTT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+18051_381+18056dup|||||||rs373893099||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28611498_28611503dup|||||||||||||,TTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+18051_381+18056dup|||||||rs373893099||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28611498_28611503dup|||||||||||||,TTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+18051_381+18056dup|||||||rs373893099||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28611498_28611503dup|||||||||||||,TTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+18051_303+18056dup|||||||rs373893099||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28611498_28611503dup|||||||||||||,TTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+18051_381+18056dup|||||||rs373893099||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28611498_28611503dup|||||||||||||,TTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+18051_381+18056dup|||||||rs373893099||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28611498_28611503dup|||||||||||||,TTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+18051_381+18056dup|||||||rs373893099||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28611498_28611503dup|||||||||||||,TTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+18051_291+18056dup|||||||rs373893099||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28611498_28611503dup|||||||||||||,TTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+18051_303+18056dup|||||||rs373893099||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28611498_28611503dup|||||||||||||,TTTTTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+18051_75+18056dup|||||||rs373893099||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28611498_28611503dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTTTT,TTTTTT,TTTTTT,TTTTTT,TTTTTT,TTTTTT,TTTTTT,TTTTTT,TTTTTT,TTTTTT;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61429;gnomADv4_1_AC_joint_XX=32160;gnomADv4_1_AC_joint_XY=29269;gnomADv4_1_AF_grpmax_joint=0.636916;gnomADv4_1_AF_joint=0.488307;gnomADv4_1_AF_joint_XX=0.490573;gnomADv4_1_AF_joint_XY=0.485841;gnomADv4_1_AN_grpmax_joint=4112;gnomADv4_1_AN_joint=125800;gnomADv4_1_AN_joint_XX=65556;gnomADv4_1_AN_joint_XY=60244;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=14796;gnomADv4_1_nhomalt_joint_XX=7758;gnomADv4_1_nhomalt_joint_XY=7038;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28611583 chr22_28611583_G_A G A 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=43;CADD_PHREDscore=1.642;CADD_Rawscore=0.111812;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+17969C>T|||||||rs10460754||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28611583G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+17969C>T|||||||rs10460754||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28611583G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+17969C>T|||||||rs10460754||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28611583G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+17969C>T|||||||rs10460754||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28611583G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+17969C>T|||||||rs10460754||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28611583G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+17969C>T|||||||rs10460754||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28611583G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+17969C>T|||||||rs10460754||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28611583G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+17969C>T|||||||rs10460754||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28611583G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+17969C>T|||||||rs10460754||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28611583G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+17969C>T|||||||rs10460754||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28611583G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|24|-30|2|-2;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35216;gnomADv4_1_AC_joint_XX=18951;gnomADv4_1_AC_joint_XY=16265;gnomADv4_1_AF_grpmax_joint=0.380165;gnomADv4_1_AF_joint=0.254661;gnomADv4_1_AF_joint_XX=0.261537;gnomADv4_1_AF_joint_XY=0.247091;gnomADv4_1_AN_grpmax_joint=242;gnomADv4_1_AN_joint=138286;gnomADv4_1_AN_joint_XX=72460;gnomADv4_1_AN_joint_XY=65826;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5796;gnomADv4_1_nhomalt_joint_XX=3207;gnomADv4_1_nhomalt_joint_XY=2589;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28611657 chr22_28611657_G_C G C 40 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.687;CADD_Rawscore=0.11894;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+17895C>G|||||||rs5762716||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28611657G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+17895C>G|||||||rs5762716||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28611657G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+17895C>G|||||||rs5762716||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28611657G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+17895C>G|||||||rs5762716||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28611657G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+17895C>G|||||||rs5762716||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28611657G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+17895C>G|||||||rs5762716||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28611657G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+17895C>G|||||||rs5762716||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28611657G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+17895C>G|||||||rs5762716||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28611657G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+17895C>G|||||||rs5762716||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28611657G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+17895C>G|||||||rs5762716||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28611657G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|11|-8|16|11;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43958;gnomADv4_1_AC_joint_XX=23989;gnomADv4_1_AC_joint_XY=19969;gnomADv4_1_AF_grpmax_joint=0.601377;gnomADv4_1_AF_joint=0.4774;gnomADv4_1_AF_joint_XX=0.490392;gnomADv4_1_AF_joint_XY=0.462674;gnomADv4_1_AN_grpmax_joint=2614;gnomADv4_1_AN_joint=92078;gnomADv4_1_AN_joint_XX=48918;gnomADv4_1_AN_joint_XY=43160;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11287;gnomADv4_1_nhomalt_joint_XX=6362;gnomADv4_1_nhomalt_joint_XY=4925;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28611665 chr22_28611665_T_G T G 33 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=0;AC_XY=4;AF=1.0;AF_XX=.;AF_XY=1.0;AN=4;AN_XX=0;AN_XY=4;AQ=33;CADD_PHREDscore=3.106;CADD_Rawscore=0.284515;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+17887A>C|||||||rs5762717||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28611665T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+17887A>C|||||||rs5762717||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28611665T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+17887A>C|||||||rs5762717||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28611665T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+17887A>C|||||||rs5762717||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28611665T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+17887A>C|||||||rs5762717||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28611665T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+17887A>C|||||||rs5762717||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28611665T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+17887A>C|||||||rs5762717||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28611665T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+17887A>C|||||||rs5762717||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28611665T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+17887A>C|||||||rs5762717||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28611665T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+17887A>C|||||||rs5762717||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28611665T>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-15|3|8|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43701;gnomADv4_1_AC_joint_XX=23816;gnomADv4_1_AC_joint_XY=19885;gnomADv4_1_AF_grpmax_joint=0.62;gnomADv4_1_AF_joint=0.468322;gnomADv4_1_AF_joint_XX=0.481054;gnomADv4_1_AF_joint_XY=0.453933;gnomADv4_1_AN_grpmax_joint=200;gnomADv4_1_AN_joint=93314;gnomADv4_1_AN_joint_XX=49508;gnomADv4_1_AN_joint_XY=43806;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11173;gnomADv4_1_nhomalt_joint_XX=6293;gnomADv4_1_nhomalt_joint_XY=4880;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28612429 chr22_28612429_T_C T C 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=3.308;CADD_Rawscore=0.303306;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+17123A>G|||||||rs2224337||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28612429T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+17123A>G|||||||rs2224337||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28612429T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+17123A>G|||||||rs2224337||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28612429T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+17123A>G|||||||rs2224337||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28612429T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+17123A>G|||||||rs2224337||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28612429T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+17123A>G|||||||rs2224337||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28612429T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+17123A>G|||||||rs2224337||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28612429T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+17123A>G|||||||rs2224337||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28612429T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+17123A>G|||||||rs2224337||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28612429T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+17123A>G|||||||rs2224337||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28612429T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|5|-27|5|-38;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28992;gnomADv4_1_AC_joint_XX=14442;gnomADv4_1_AC_joint_XY=14550;gnomADv4_1_AF_grpmax_joint=0.376508;gnomADv4_1_AF_joint=0.190782;gnomADv4_1_AF_joint_XX=0.18583;gnomADv4_1_AF_joint_XY=0.195965;gnomADv4_1_AN_grpmax_joint=15256;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=3335;gnomADv4_1_nhomalt_joint_XX=1571;gnomADv4_1_nhomalt_joint_XY=1764;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28614163 chr22_28614163_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.287;CADD_Rawscore=-0.33349;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+15389C>T|||||||rs142584526||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28614163G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+15389C>T|||||||rs142584526||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28614163G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+15389C>T|||||||rs142584526||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28614163G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+15389C>T|||||||rs142584526||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28614163G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+15389C>T|||||||rs142584526||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28614163G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+15389C>T|||||||rs142584526||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28614163G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+15389C>T|||||||rs142584526||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28614163G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+15389C>T|||||||rs142584526||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28614163G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+15389C>T|||||||rs142584526||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28614163G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+15389C>T|||||||rs142584526||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28614163G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-27|34|30|-18;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1090;gnomADv4_1_AC_joint_XX=584;gnomADv4_1_AC_joint_XY=506;gnomADv4_1_AF_grpmax_joint=0.0110258;gnomADv4_1_AF_joint=0.0071621;gnomADv4_1_AF_joint_XX=0.00750701;gnomADv4_1_AF_joint_XY=0.00680144;gnomADv4_1_AN_grpmax_joint=68022;gnomADv4_1_AN_joint=152190;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8;gnomADv4_1_nhomalt_joint_XX=4;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28620349 chr22_28620349_C_CA C CA 51 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.682;CADDIndel_Rawscore=-0.115446;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||2/22|ENST00000397906.7:c.381+9202dup|||||||rs34680067||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28620362dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||2/22|NM_001145418.2:c.381+9202dup|||||||rs34680067||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28620362dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||2/21|NM_001393403.1:c.381+9202dup|||||||rs34680067||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28620362dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||2/22|XM_011530018.4:c.303+9202dup|||||||rs34680067||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28620362dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||2/14|XM_011530019.3:c.381+9202dup|||||||rs34680067||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28620362dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||2/13|XM_011530020.2:c.381+9202dup|||||||rs34680067||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28620362dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||2/14|XM_011530021.4:c.381+9202dup|||||||rs34680067||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28620362dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||2/22|XM_017028673.3:c.291+9202dup|||||||rs34680067||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28620362dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||2/21|XM_047441214.1:c.303+9202dup|||||||rs34680067||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28620362dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||2/22|XM_047441215.1:c.75+9202dup|||||||rs34680067||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28620362dup|||||||||||||;SpliceAI=CA|TTC28|0.00|0.00|0.00|0.00|-27|-7|2|-7;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90261;gnomADv4_1_AC_joint_XX=46527;gnomADv4_1_AC_joint_XY=43734;gnomADv4_1_AF_grpmax_joint=0.781222;gnomADv4_1_AF_joint=0.633864;gnomADv4_1_AF_joint_XX=0.632212;gnomADv4_1_AF_joint_XY=0.635632;gnomADv4_1_AN_grpmax_joint=4516;gnomADv4_1_AN_joint=142398;gnomADv4_1_AN_joint_XX=73594;gnomADv4_1_AN_joint_XY=68804;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28405;gnomADv4_1_nhomalt_joint_XX=14643;gnomADv4_1_nhomalt_joint_XY=13762;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28632253 chr22_28632253_CTT_C CTT C 20 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=20;CADDIndel_PHREDscore=5.72;CADDIndel_Rawscore=0.525195;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-2425_103-2424del|||||||rs765447917||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||TT|TT||||chr22:g.28632283_28632284del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-2425_192-2424del|||||||rs765447917||-1||HGNC|HGNC:29179|2||||||||Ensembl||TT|TT||||chr22:g.28632283_28632284del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-2425_103-2424del|||||||rs765447917||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||TT|TT||||chr22:g.28632283_28632284del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-2425_103-2424del|||||||rs765447917||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||TT|TT||||chr22:g.28632283_28632284del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.25-2425_25-2424del|||||||rs765447917||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||TT|TT||||chr22:g.28632283_28632284del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-2425_103-2424del|||||||rs765447917||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||TT|TT||||chr22:g.28632283_28632284del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-2425_103-2424del|||||||rs765447917||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||TT|TT||||chr22:g.28632283_28632284del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-2425_103-2424del|||||||rs765447917||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||TT|TT||||chr22:g.28632283_28632284del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.13-2425_13-2424del|||||||rs765447917||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||TT|TT||||chr22:g.28632283_28632284del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.25-2425_25-2424del|||||||rs765447917||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||TT|TT||||chr22:g.28632283_28632284del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||1/22|XM_047441215.1:c.-205+1651_-205+1652del|||||||rs765447917||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||TT|TT||||chr22:g.28632283_28632284del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|5|-39|3|1;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6364;gnomADv4_1_AC_joint_XX=3797;gnomADv4_1_AC_joint_XY=2567;gnomADv4_1_AF_grpmax_joint=0.186374;gnomADv4_1_AF_joint=0.134024;gnomADv4_1_AF_joint_XX=0.142573;gnomADv4_1_AF_joint_XY=0.123106;gnomADv4_1_AN_grpmax_joint=26522;gnomADv4_1_AN_joint=47484;gnomADv4_1_AN_joint_XX=26632;gnomADv4_1_AN_joint_XY=20852;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=12;gnomADv4_1_nhomalt_joint_XX=4;gnomADv4_1_nhomalt_joint_XY=8;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28633258 chr22_28633258_C_T C T 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.44;CADD_Rawscore=-0.225311;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-3428G>A|||||||rs1249331555||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28633258C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-3428G>A|||||||rs1249331555||-1||HGNC|HGNC:29179|2||||||||Ensembl||C|C||||chr22:g.28633258C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-3428G>A|||||||rs1249331555||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28633258C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-3428G>A|||||||rs1249331555||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28633258C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.25-3428G>A|||||||rs1249331555||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28633258C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-3428G>A|||||||rs1249331555||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28633258C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-3428G>A|||||||rs1249331555||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28633258C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-3428G>A|||||||rs1249331555||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28633258C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.13-3428G>A|||||||rs1249331555||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28633258C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.25-3428G>A|||||||rs1249331555||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28633258C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||1/22|XM_047441215.1:c.-205+648G>A|||||||rs1249331555||-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28633258C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-6|15|-6|15;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5;gnomADv4_1_AC_joint_XX=2;gnomADv4_1_AC_joint_XY=3;gnomADv4_1_AF_joint=3.7528e-05;gnomADv4_1_AF_joint_XX=2.88342e-05;gnomADv4_1_AF_joint_XY=4.69689e-05;gnomADv4_1_AN_joint=133234;gnomADv4_1_AN_joint_XX=69362;gnomADv4_1_AN_joint_XY=63872;gnomADv4_1_FILTER=PASS;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28634442 chr22_28634442_G_A G A 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADD_PHREDscore=0.441;CADD_Rawscore=-0.224803;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-4612C>T|||||||rs12628675||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28634442G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-4612C>T|||||||rs12628675||-1||HGNC|HGNC:29179|2||||||||Ensembl||G|G||||chr22:g.28634442G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-4612C>T|||||||rs12628675||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28634442G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-4612C>T|||||||rs12628675||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28634442G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.25-4612C>T|||||||rs12628675||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28634442G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-4612C>T|||||||rs12628675||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28634442G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-4612C>T|||||||rs12628675||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28634442G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-4612C>T|||||||rs12628675||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28634442G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.13-4612C>T|||||||rs12628675||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28634442G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.25-4612C>T|||||||rs12628675||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28634442G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||||||||||rs12628675|233|-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||G|G||||chr22:g.28634442G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-10|44|-10|-9;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11572;gnomADv4_1_AC_joint_XX=5802;gnomADv4_1_AC_joint_XY=5770;gnomADv4_1_AF_grpmax_joint=0.143962;gnomADv4_1_AF_joint=0.0768087;gnomADv4_1_AF_joint_XX=0.0751905;gnomADv4_1_AF_joint_XY=0.0785077;gnomADv4_1_AN_grpmax_joint=15122;gnomADv4_1_AN_joint=150660;gnomADv4_1_AN_joint_XX=77164;gnomADv4_1_AN_joint_XY=73496;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=552;gnomADv4_1_nhomalt_joint_XX=254;gnomADv4_1_nhomalt_joint_XY=298;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28635632 chr22_28635632_A_T A T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.173;CADD_Rawscore=0.023723;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-5802T>A|||||||rs2224338||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28635632A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-5802T>A|||||||rs2224338||-1||HGNC|HGNC:29179|2||||||||Ensembl||A|A||||chr22:g.28635632A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-5802T>A|||||||rs2224338||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28635632A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-5802T>A|||||||rs2224338||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28635632A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.25-5802T>A|||||||rs2224338||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28635632A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-5802T>A|||||||rs2224338||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28635632A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-5802T>A|||||||rs2224338||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28635632A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-5802T>A|||||||rs2224338||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28635632A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.13-5802T>A|||||||rs2224338||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28635632A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.25-5802T>A|||||||rs2224338||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28635632A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||||||||||rs2224338|1423|-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||A|A||||chr22:g.28635632A>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-6|-15|3|-6;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151496;gnomADv4_1_AC_joint_XX=77411;gnomADv4_1_AC_joint_XY=74085;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.995257;gnomADv4_1_AF_joint_XX=0.994847;gnomADv4_1_AF_joint_XY=0.995686;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152218;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75393;gnomADv4_1_nhomalt_joint_XX=38509;gnomADv4_1_nhomalt_joint_XY=36884;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28636127 chr22_28636127_A_ATT;chr22_28636127_A_ATTT A ATT 20 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=20;CADDIndel_PHREDscore=1.049;CADDIndel_Rawscore=-0.00531;CSQ=TT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-6299_103-6298dup|||||||rs71316851||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28636153_28636154dup|||1||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-6299_192-6298dup|||||||rs71316851||-1||HGNC|HGNC:29179|2||||||||Ensembl|||||||chr22:g.28636153_28636154dup|||1||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-6299_103-6298dup|||||||rs71316851||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28636153_28636154dup|||1||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-6299_103-6298dup|||||||rs71316851||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28636153_28636154dup|||1||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.25-6299_25-6298dup|||||||rs71316851||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28636153_28636154dup|||1||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-6299_103-6298dup|||||||rs71316851||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28636153_28636154dup|||1||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-6299_103-6298dup|||||||rs71316851||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28636153_28636154dup|||1||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-6299_103-6298dup|||||||rs71316851||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28636153_28636154dup|||1||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.13-6299_13-6298dup|||||||rs71316851||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28636153_28636154dup|||1||||||||||,TT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.25-6299_25-6298dup|||||||rs71316851||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28636153_28636154dup|||1||||||||||,TT|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||||||||||rs71316851|1918|-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28636153_28636154dup|||1||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16097;gnomADv4_1_AC_joint_XX=9212;gnomADv4_1_AC_joint_XY=6885;gnomADv4_1_AF_grpmax_joint=0.295798;gnomADv4_1_AF_joint=0.246342;gnomADv4_1_AF_joint_XX=0.247541;gnomADv4_1_AF_joint_XY=0.244756;gnomADv4_1_AN_grpmax_joint=3570;gnomADv4_1_AN_joint=65344;gnomADv4_1_AN_joint_XX=37214;gnomADv4_1_AN_joint_XY=28130;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=5805;gnomADv4_1_nhomalt_joint_XX=3303;gnomADv4_1_nhomalt_joint_XY=2502;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28636127 chr22_28636127_A_ATT;chr22_28636127_A_ATTT A ATTT 20 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=15;CADDIndel_PHREDscore=1.031;CADDIndel_Rawscore=-0.009949;CSQ=TTT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-6300_103-6298dup|||||||rs71316851||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28636152_28636154dup|||1||||||||||,TTT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-6300_192-6298dup|||||||rs71316851||-1||HGNC|HGNC:29179|2||||||||Ensembl|||||||chr22:g.28636152_28636154dup|||1||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-6300_103-6298dup|||||||rs71316851||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28636152_28636154dup|||1||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-6300_103-6298dup|||||||rs71316851||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28636152_28636154dup|||1||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.25-6300_25-6298dup|||||||rs71316851||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28636152_28636154dup|||1||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-6300_103-6298dup|||||||rs71316851||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28636152_28636154dup|||1||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-6300_103-6298dup|||||||rs71316851||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28636152_28636154dup|||1||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-6300_103-6298dup|||||||rs71316851||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28636152_28636154dup|||1||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.13-6300_13-6298dup|||||||rs71316851||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28636152_28636154dup|||1||||||||||,TTT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.25-6300_25-6298dup|||||||rs71316851||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28636152_28636154dup|||1||||||||||,TTT|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||||||||||rs71316851|1918|-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq|||||||chr22:g.28636152_28636154dup|||1||||||||||;TYPE=INDEL;VEP_Allele=TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25184;gnomADv4_1_AC_joint_XX=14667;gnomADv4_1_AC_joint_XY=10517;gnomADv4_1_AF_grpmax_joint=0.480676;gnomADv4_1_AF_joint=0.383949;gnomADv4_1_AF_joint_XX=0.392649;gnomADv4_1_AF_joint_XY=0.372441;gnomADv4_1_AN_grpmax_joint=1242;gnomADv4_1_AN_joint=65592;gnomADv4_1_AN_joint_XX=37354;gnomADv4_1_AN_joint_XY=28238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=10043;gnomADv4_1_nhomalt_joint_XX=5822;gnomADv4_1_nhomalt_joint_XY=4221;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28637004 chr22_28637004_GT_G GT G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=45;CADDIndel_PHREDscore=0.235;CADDIndel_Rawscore=-0.384624;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-7175del|||||||rs35849354||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28637026del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-7175del|||||||rs35849354||-1||HGNC|HGNC:29179|2||||||||Ensembl||T|T||||chr22:g.28637026del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-7175del|||||||rs35849354||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28637026del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-7175del|||||||rs35849354||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28637026del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.25-7175del|||||||rs35849354||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28637026del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-7175del|||||||rs35849354||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28637026del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-7175del|||||||rs35849354||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28637026del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-7175del|||||||rs35849354||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28637026del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.13-7175del|||||||rs35849354||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28637026del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.25-7175del|||||||rs35849354||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28637026del|||||||||||||,-|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||||||||||rs35849354|2796|-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28637026del|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|2|50|32|38;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35128;gnomADv4_1_AC_joint_XX=18930;gnomADv4_1_AC_joint_XY=16198;gnomADv4_1_AF_grpmax_joint=0.517857;gnomADv4_1_AF_joint=0.361973;gnomADv4_1_AF_joint_XX=0.364965;gnomADv4_1_AF_joint_XY=0.358537;gnomADv4_1_AN_grpmax_joint=168;gnomADv4_1_AN_joint=97046;gnomADv4_1_AN_joint_XX=51868;gnomADv4_1_AN_joint_XY=45178;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3154;gnomADv4_1_nhomalt_joint_XX=1621;gnomADv4_1_nhomalt_joint_XY=1533;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28637009 chr22_28637009_T_G T G 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=19;CADD_PHREDscore=0.972;CADD_Rawscore=-0.025238;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-7179A>C|||||||rs983254029||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28637009T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-7179A>C|||||||rs983254029||-1||HGNC|HGNC:29179|2||||||||Ensembl||T|T||||chr22:g.28637009T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-7179A>C|||||||rs983254029||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28637009T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-7179A>C|||||||rs983254029||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28637009T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.25-7179A>C|||||||rs983254029||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28637009T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-7179A>C|||||||rs983254029||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28637009T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-7179A>C|||||||rs983254029||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28637009T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-7179A>C|||||||rs983254029||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28637009T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.13-7179A>C|||||||rs983254029||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28637009T>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.25-7179A>C|||||||rs983254029||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28637009T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||||||||||rs983254029|2800|-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||T|T||||chr22:g.28637009T>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|45|-11|-41|33;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7;gnomADv4_1_AC_joint_XX=2;gnomADv4_1_AC_joint_XY=5;gnomADv4_1_AF_grpmax_joint=2.63061e-05;gnomADv4_1_AF_joint=4.86375e-05;gnomADv4_1_AF_joint_XX=2.70665e-05;gnomADv4_1_AF_joint_XY=7.1398e-05;gnomADv4_1_AN_grpmax_joint=38014;gnomADv4_1_AN_joint=143922;gnomADv4_1_AN_joint_XX=73892;gnomADv4_1_AN_joint_XY=70030;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28637473 chr22_28637473_C_T C T 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=12.56;CADD_Rawscore=1.24965;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-7643G>A|||||||rs1241472641||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28637473C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-7643G>A|||||||rs1241472641||-1||HGNC|HGNC:29179|2||||||||Ensembl||C|C||||chr22:g.28637473C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-7643G>A|||||||rs1241472641||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28637473C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-7643G>A|||||||rs1241472641||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28637473C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.25-7643G>A|||||||rs1241472641||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28637473C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-7643G>A|||||||rs1241472641||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28637473C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-7643G>A|||||||rs1241472641||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28637473C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-7643G>A|||||||rs1241472641||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28637473C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.13-7643G>A|||||||rs1241472641||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28637473C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.25-7643G>A|||||||rs1241472641||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28637473C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||||||||||rs1241472641|3264|-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28637473C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|41|-1|41|42;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5;gnomADv4_1_AC_joint_XX=2;gnomADv4_1_AC_joint_XY=3;gnomADv4_1_AF_joint=3.28757e-05;gnomADv4_1_AF_joint_XX=2.57083e-05;gnomADv4_1_AF_joint_XY=4.03812e-05;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28638976 chr22_28638976_C_T C T 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.985;CADD_Rawscore=-0.021837;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-9146G>A|||||||rs5752764||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28638976C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-9146G>A|||||||rs5752764||-1||HGNC|HGNC:29179|2||||||||Ensembl||C|C||||chr22:g.28638976C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|RN7SL162P|ENSG00000266503|Transcript|ENST00000579233|misc_RNA||||||||||rs5752764|4003|-1||HGNC|HGNC:46178|||||||||Ensembl||C|C||||chr22:g.28638976C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-9146G>A|||||||rs5752764||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28638976C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-9146G>A|||||||rs5752764||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28638976C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.25-9146G>A|||||||rs5752764||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28638976C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-9146G>A|||||||rs5752764||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28638976C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-9146G>A|||||||rs5752764||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28638976C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-9146G>A|||||||rs5752764||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28638976C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.12+7183G>A|||||||rs5752764||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28638976C>T|||1||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.25-9146G>A|||||||rs5752764||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28638976C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441215.1|protein_coding||||||||||rs5752764|4767|-1||EntrezGene|HGNC:29179|||XP_047297171.1||||||RefSeq||C|C||||chr22:g.28638976C>T|||1||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-12|23|50|-11;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000468807,ENST00000579233,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1,XM_047441215.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000266503,23331,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,RN7SL162P,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=89654;gnomADv4_1_AC_joint_XX=45744;gnomADv4_1_AC_joint_XY=43910;gnomADv4_1_AF_grpmax_joint=0.736526;gnomADv4_1_AF_joint=0.589682;gnomADv4_1_AF_joint_XX=0.588605;gnomADv4_1_AF_joint_XY=0.590808;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152038;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=27040;gnomADv4_1_nhomalt_joint_XX=13787;gnomADv4_1_nhomalt_joint_XY=13253;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28640477 chr22_28640477_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.69;CADD_Rawscore=0.243764;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-10647T>C|||||||rs9613658||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28640477A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-10647T>C|||||||rs9613658||-1||HGNC|HGNC:29179|2||||||||Ensembl||A|A||||chr22:g.28640477A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RN7SL162P|ENSG00000266503|Transcript|ENST00000579233|misc_RNA||||||||||rs9613658|2502|-1||HGNC|HGNC:46178|||||||||Ensembl||A|A||||chr22:g.28640477A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-10647T>C|||||||rs9613658||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28640477A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-10647T>C|||||||rs9613658||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28640477A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.25-10647T>C|||||||rs9613658||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28640477A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-10647T>C|||||||rs9613658||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28640477A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-10647T>C|||||||rs9613658||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28640477A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-10647T>C|||||||rs9613658||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28640477A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.12+5682T>C|||||||rs9613658||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28640477A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.25-10647T>C|||||||rs9613658||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28640477A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|-1|-24|-1|11;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000468807,ENST00000579233,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000266503,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,RN7SL162P,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41029;gnomADv4_1_AC_joint_XX=21032;gnomADv4_1_AC_joint_XY=19997;gnomADv4_1_AF_grpmax_joint=0.407534;gnomADv4_1_AF_joint=0.270586;gnomADv4_1_AF_joint_XX=0.271157;gnomADv4_1_AF_joint_XY=0.269989;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151630;gnomADv4_1_AN_joint_XX=77564;gnomADv4_1_AN_joint_XY=74066;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6956;gnomADv4_1_nhomalt_joint_XX=3590;gnomADv4_1_nhomalt_joint_XY=3366;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28640567 chr22_28640567_A_AAATAATAAT;chr22_28640567_A_AAATAAT;chr22_28640567_A_AAAT A AAATAATAAT 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.619;CADDIndel_Rawscore=-0.139926;CSQ=AATAATAAT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-10746_103-10738dup|||||||rs139282856||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28640585_28640593dup|||||||||||||,AATAATAAT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-10746_192-10738dup|||||||rs139282856||-1||HGNC|HGNC:29179|2||||||||Ensembl|||||||chr22:g.28640585_28640593dup|||||||||||||,AATAATAAT|downstream_gene_variant|MODIFIER|RN7SL162P|ENSG00000266503|Transcript|ENST00000579233|misc_RNA||||||||||rs139282856|2411|-1||HGNC|HGNC:46178|||||||||Ensembl|||||||chr22:g.28640585_28640593dup|||||||||||||,AATAATAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-10746_103-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28640585_28640593dup|||||||||||||,AATAATAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-10746_103-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28640585_28640593dup|||||||||||||,AATAATAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.25-10746_25-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28640585_28640593dup|||||||||||||,AATAATAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-10746_103-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28640585_28640593dup|||||||||||||,AATAATAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-10746_103-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28640585_28640593dup|||||||||||||,AATAATAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-10746_103-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28640585_28640593dup|||||||||||||,AATAATAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.12+5583_12+5591dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28640585_28640593dup|||||||||||||,AATAATAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.25-10746_25-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28640585_28640593dup|||||||||||||;TYPE=INDEL;VEP_Allele=AATAATAAT,AATAATAAT,AATAATAAT,AATAATAAT,AATAATAAT,AATAATAAT,AATAATAAT,AATAATAAT,AATAATAAT,AATAATAAT,AATAATAAT;VEP_Feature=ENST00000397906,ENST00000468807,ENST00000579233,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000266503,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,RN7SL162P,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21559;gnomADv4_1_AC_joint_XX=10955;gnomADv4_1_AC_joint_XY=10604;gnomADv4_1_AF_grpmax_joint=0.342622;gnomADv4_1_AF_joint=0.146467;gnomADv4_1_AF_joint_XX=0.144685;gnomADv4_1_AF_joint_XY=0.148353;gnomADv4_1_AN_grpmax_joint=4988;gnomADv4_1_AN_joint=147194;gnomADv4_1_AN_joint_XX=75716;gnomADv4_1_AN_joint_XY=71478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1946;gnomADv4_1_nhomalt_joint_XX=965;gnomADv4_1_nhomalt_joint_XY=981;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28640567 chr22_28640567_A_AAATAATAAT;chr22_28640567_A_AAATAAT;chr22_28640567_A_AAAT A AAATAAT 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.651;CADDIndel_Rawscore=-0.127019;CSQ=AATAAT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-10743_103-10738dup|||||||rs139282856||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28640588_28640593dup|||||||||||||,AATAAT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-10743_192-10738dup|||||||rs139282856||-1||HGNC|HGNC:29179|2||||||||Ensembl|||||||chr22:g.28640588_28640593dup|||||||||||||,AATAAT|downstream_gene_variant|MODIFIER|RN7SL162P|ENSG00000266503|Transcript|ENST00000579233|misc_RNA||||||||||rs139282856|2411|-1||HGNC|HGNC:46178|||||||||Ensembl|||||||chr22:g.28640588_28640593dup|||||||||||||,AATAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-10743_103-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28640588_28640593dup|||||||||||||,AATAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-10743_103-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28640588_28640593dup|||||||||||||,AATAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.25-10743_25-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28640588_28640593dup|||||||||||||,AATAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-10743_103-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28640588_28640593dup|||||||||||||,AATAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-10743_103-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28640588_28640593dup|||||||||||||,AATAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-10743_103-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28640588_28640593dup|||||||||||||,AATAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.12+5586_12+5591dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28640588_28640593dup|||||||||||||,AATAAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.25-10743_25-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28640588_28640593dup|||||||||||||;TYPE=INDEL;VEP_Allele=AATAAT,AATAAT,AATAAT,AATAAT,AATAAT,AATAAT,AATAAT,AATAAT,AATAAT,AATAAT,AATAAT;VEP_Feature=ENST00000397906,ENST00000468807,ENST00000579233,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000266503,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,RN7SL162P,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44437;gnomADv4_1_AC_joint_XX=22974;gnomADv4_1_AC_joint_XY=21463;gnomADv4_1_AF_grpmax_joint=0.402868;gnomADv4_1_AF_joint=0.301964;gnomADv4_1_AF_joint_XX=0.303391;gnomADv4_1_AF_joint_XY=0.300451;gnomADv4_1_AN_grpmax_joint=4602;gnomADv4_1_AN_joint=147160;gnomADv4_1_AN_joint_XX=75724;gnomADv4_1_AN_joint_XY=71436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=7584;gnomADv4_1_nhomalt_joint_XX=3924;gnomADv4_1_nhomalt_joint_XY=3660;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28640567 chr22_28640567_A_AAATAATAAT;chr22_28640567_A_AAATAAT;chr22_28640567_A_AAAT A AAAT 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.692;CADDIndel_Rawscore=-0.111835;CSQ=AAT|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-10740_103-10738dup|||||||rs139282856||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28640591_28640593dup|||||||||||||,AAT|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-10740_192-10738dup|||||||rs139282856||-1||HGNC|HGNC:29179|2||||||||Ensembl|||||||chr22:g.28640591_28640593dup|||||||||||||,AAT|downstream_gene_variant|MODIFIER|RN7SL162P|ENSG00000266503|Transcript|ENST00000579233|misc_RNA||||||||||rs139282856|2411|-1||HGNC|HGNC:46178|||||||||Ensembl|||||||chr22:g.28640591_28640593dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-10740_103-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28640591_28640593dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-10740_103-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28640591_28640593dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.25-10740_25-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28640591_28640593dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-10740_103-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28640591_28640593dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-10740_103-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28640591_28640593dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-10740_103-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28640591_28640593dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.12+5589_12+5591dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28640591_28640593dup|||||||||||||,AAT|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.25-10740_25-10738dup|||||||rs139282856||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28640591_28640593dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAT,AAT,AAT,AAT,AAT,AAT,AAT,AAT,AAT,AAT,AAT;VEP_Feature=ENST00000397906,ENST00000468807,ENST00000579233,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000266503,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,RN7SL162P,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34996;gnomADv4_1_AC_joint_XX=17912;gnomADv4_1_AC_joint_XY=17084;gnomADv4_1_AF_grpmax_joint=0.339197;gnomADv4_1_AF_joint=0.237741;gnomADv4_1_AF_joint_XX=0.236506;gnomADv4_1_AF_joint_XY=0.239051;gnomADv4_1_AN_grpmax_joint=14552;gnomADv4_1_AN_joint=147202;gnomADv4_1_AN_joint_XX=75736;gnomADv4_1_AN_joint_XY=71466;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4928;gnomADv4_1_nhomalt_joint_XX=2503;gnomADv4_1_nhomalt_joint_XY=2425;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28642616 chr22_28642616_G_A G A 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=12.23;CADD_Rawscore=1.20474;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-12786C>T|||||||rs5762729||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28642616G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-12786C>T|||||||rs5762729||-1||HGNC|HGNC:29179|2||||||||Ensembl||G|G||||chr22:g.28642616G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RN7SL162P|ENSG00000266503|Transcript|ENST00000579233|misc_RNA||||||||||rs5762729|363|-1||HGNC|HGNC:46178|||||||||Ensembl||G|G||||chr22:g.28642616G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-12786C>T|||||||rs5762729||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28642616G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-12786C>T|||||||rs5762729||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28642616G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.25-12786C>T|||||||rs5762729||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28642616G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-12786C>T|||||||rs5762729||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28642616G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-12786C>T|||||||rs5762729||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28642616G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-12786C>T|||||||rs5762729||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28642616G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.12+3543C>T|||||||rs5762729||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28642616G>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.25-12786C>T|||||||rs5762729||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28642616G>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-17|38|-17|38;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000468807,ENST00000579233,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000266503,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,RN7SL162P,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152111;gnomADv4_1_AC_joint_XX=77749;gnomADv4_1_AC_joint_XY=74362;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.998785;gnomADv4_1_AF_joint_XX=0.998754;gnomADv4_1_AF_joint_XY=0.998818;gnomADv4_1_AN_grpmax_joint=68032;gnomADv4_1_AN_joint=152296;gnomADv4_1_AN_joint_XX=77846;gnomADv4_1_AN_joint_XY=74450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=75963;gnomADv4_1_nhomalt_joint_XX=38826;gnomADv4_1_nhomalt_joint_XY=37137;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28643627 chr22_28643627_G_T G T 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.403;CADD_Rawscore=-0.247321;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-13797C>A|||||||rs5762730||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28643627G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-13797C>A|||||||rs5762730||-1||HGNC|HGNC:29179|2||||||||Ensembl||G|G||||chr22:g.28643627G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RN7SL162P|ENSG00000266503|Transcript|ENST00000579233|misc_RNA||||||||||rs5762730|357|-1||HGNC|HGNC:46178|||||||||Ensembl||G|G||||chr22:g.28643627G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-13797C>A|||||||rs5762730||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28643627G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-13797C>A|||||||rs5762730||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28643627G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.24+12743C>A|||||||rs5762730||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||G|G||||chr22:g.28643627G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-13797C>A|||||||rs5762730||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28643627G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-13797C>A|||||||rs5762730||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28643627G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-13797C>A|||||||rs5762730||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28643627G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.12+2532C>A|||||||rs5762730||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||G|G||||chr22:g.28643627G>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.24+12743C>A|||||||rs5762730||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||G|G||||chr22:g.28643627G>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|31|-16|-39|-17;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000468807,ENST00000579233,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000266503,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,RN7SL162P,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=89968;gnomADv4_1_AC_joint_XX=45909;gnomADv4_1_AC_joint_XY=44059;gnomADv4_1_AF_grpmax_joint=0.736088;gnomADv4_1_AF_joint=0.591638;gnomADv4_1_AF_joint_XX=0.590743;gnomADv4_1_AF_joint_XY=0.592573;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=27213;gnomADv4_1_nhomalt_joint_XX=13881;gnomADv4_1_nhomalt_joint_XY=13332;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28643828 chr22_28643828_C_T C T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.413;CADD_Rawscore=-0.241133;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-13998G>A|||||||rs4822978||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28643828C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-13998G>A|||||||rs4822978||-1||HGNC|HGNC:29179|2||||||||Ensembl||C|C||||chr22:g.28643828C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RN7SL162P|ENSG00000266503|Transcript|ENST00000579233|misc_RNA||||||||||rs4822978|558|-1||HGNC|HGNC:46178|||||||||Ensembl||C|C||||chr22:g.28643828C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-13998G>A|||||||rs4822978||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28643828C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-13998G>A|||||||rs4822978||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28643828C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.24+12542G>A|||||||rs4822978||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28643828C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-13998G>A|||||||rs4822978||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28643828C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-13998G>A|||||||rs4822978||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28643828C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-13998G>A|||||||rs4822978||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28643828C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.12+2331G>A|||||||rs4822978||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28643828C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.24+12542G>A|||||||rs4822978||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28643828C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-41|13|3|-13;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000468807,ENST00000579233,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000266503,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,RN7SL162P,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152360;gnomADv4_1_AC_joint_XX=77848;gnomADv4_1_AC_joint_XY=74512;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68042;gnomADv4_1_AN_joint=152360;gnomADv4_1_AN_joint_XX=77848;gnomADv4_1_AN_joint_XY=74512;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76180;gnomADv4_1_nhomalt_joint_XX=38924;gnomADv4_1_nhomalt_joint_XY=37256;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28643839 chr22_28643839_C_T C T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.414;CADD_Rawscore=-0.240368;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-14009G>A|||||||rs4822979||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28643839C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-14009G>A|||||||rs4822979||-1||HGNC|HGNC:29179|2||||||||Ensembl||C|C||||chr22:g.28643839C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RN7SL162P|ENSG00000266503|Transcript|ENST00000579233|misc_RNA||||||||||rs4822979|569|-1||HGNC|HGNC:46178|||||||||Ensembl||C|C||||chr22:g.28643839C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-14009G>A|||||||rs4822979||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28643839C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-14009G>A|||||||rs4822979||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28643839C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.24+12531G>A|||||||rs4822979||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28643839C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-14009G>A|||||||rs4822979||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28643839C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-14009G>A|||||||rs4822979||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28643839C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-14009G>A|||||||rs4822979||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28643839C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.12+2320G>A|||||||rs4822979||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28643839C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.24+12531G>A|||||||rs4822979||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28643839C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-42|-4|-8|27;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000468807,ENST00000579233,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000266503,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,RN7SL162P,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152334;gnomADv4_1_AC_joint_XX=77838;gnomADv4_1_AC_joint_XY=74496;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68040;gnomADv4_1_AN_joint=152334;gnomADv4_1_AN_joint_XX=77838;gnomADv4_1_AN_joint_XY=74496;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76167;gnomADv4_1_nhomalt_joint_XX=38919;gnomADv4_1_nhomalt_joint_XY=37248;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28644398 chr22_28644398_C_CAAA C CAAA 20 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=20;CADDIndel_PHREDscore=1.597;CADDIndel_Rawscore=0.10456;CSQ=AAA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-14571_103-14569dup|||||||rs550663869||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28644413_28644415dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-14571_192-14569dup|||||||rs550663869||-1||HGNC|HGNC:29179|2||||||||Ensembl|||||||chr22:g.28644413_28644415dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|RN7SL162P|ENSG00000266503|Transcript|ENST00000579233|misc_RNA||||||||||rs550663869|1128|-1||HGNC|HGNC:46178|||||||||Ensembl|||||||chr22:g.28644413_28644415dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-14571_103-14569dup|||||||rs550663869||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28644413_28644415dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-14571_103-14569dup|||||||rs550663869||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28644413_28644415dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.24+11969_24+11971dup|||||||rs550663869||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28644413_28644415dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-14571_103-14569dup|||||||rs550663869||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28644413_28644415dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-14571_103-14569dup|||||||rs550663869||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28644413_28644415dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-14571_103-14569dup|||||||rs550663869||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28644413_28644415dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||1/22|XM_017028673.3:c.12+1758_12+1760dup|||||||rs550663869||-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28644413_28644415dup|||||||||||||,AAA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.24+11969_24+11971dup|||||||rs550663869||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28644413_28644415dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA;VEP_Feature=ENST00000397906,ENST00000468807,ENST00000579233,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000266503,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,RN7SL162P,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36721;gnomADv4_1_AC_joint_XX=19647;gnomADv4_1_AC_joint_XY=17074;gnomADv4_1_AF_grpmax_joint=0.477319;gnomADv4_1_AF_joint=0.322646;gnomADv4_1_AF_joint_XX=0.326254;gnomADv4_1_AF_joint_XY=0.318592;gnomADv4_1_AN_grpmax_joint=29628;gnomADv4_1_AN_joint=113812;gnomADv4_1_AN_joint_XX=60220;gnomADv4_1_AN_joint_XY=53592;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6153;gnomADv4_1_nhomalt_joint_XX=3344;gnomADv4_1_nhomalt_joint_XY=2809;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28648221 chr22_28648221_C_CA C CA 17 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=17;CADDIndel_PHREDscore=0.611;CADDIndel_Rawscore=-0.143088;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-18392dup|||||||rs34510876||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28648242dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-18392dup|||||||rs34510876||-1||HGNC|HGNC:29179|2||||||||Ensembl|||||||chr22:g.28648242dup|||||||||||||,A|upstream_gene_variant|MODIFIER|RN7SL162P|ENSG00000266503|Transcript|ENST00000579233|misc_RNA||||||||||rs34510876|4951|-1||HGNC|HGNC:46178|||||||||Ensembl|||||||chr22:g.28648242dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-18392dup|||||||rs34510876||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28648242dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-18392dup|||||||rs34510876||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28648242dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.24+8148dup|||||||rs34510876||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq|||||||chr22:g.28648242dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-18392dup|||||||rs34510876||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28648242dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-18392dup|||||||rs34510876||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28648242dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-18392dup|||||||rs34510876||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28648242dup|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||||||||||rs34510876|1844|-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq|||||||chr22:g.28648242dup|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.24+8148dup|||||||rs34510876||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq|||||||chr22:g.28648242dup|||||||||||||;SpliceAI=CA|TTC28|0.00|0.00|0.00|0.00|19|-5|-49|-30;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000468807,ENST00000579233,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,ENSG00000266503,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,RN7SL162P,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15982;gnomADv4_1_AC_joint_XX=8729;gnomADv4_1_AC_joint_XY=7253;gnomADv4_1_AF_grpmax_joint=0.3454;gnomADv4_1_AF_joint=0.257558;gnomADv4_1_AF_joint_XX=0.264403;gnomADv4_1_AF_joint_XY=0.249776;gnomADv4_1_AN_grpmax_joint=16934;gnomADv4_1_AN_joint=62052;gnomADv4_1_AN_joint_XX=33014;gnomADv4_1_AN_joint_XY=29038;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1916;gnomADv4_1_nhomalt_joint_XX=1057;gnomADv4_1_nhomalt_joint_XY=859;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28648372 chr22_28648372_A_G A G 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.237;CADD_Rawscore=0.037487;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-18542T>C|||||||rs2145161||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28648372A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-18542T>C|||||||rs2145161||-1||HGNC|HGNC:29179|2||||||||Ensembl||A|A||||chr22:g.28648372A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-18542T>C|||||||rs2145161||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28648372A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-18542T>C|||||||rs2145161||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28648372A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.24+7998T>C|||||||rs2145161||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28648372A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-18542T>C|||||||rs2145161||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28648372A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-18542T>C|||||||rs2145161||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28648372A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-18542T>C|||||||rs2145161||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28648372A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||||||||||rs2145161|1995|-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28648372A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.24+7998T>C|||||||rs2145161||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28648372A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|15|-48|-9|12;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90130;gnomADv4_1_AC_joint_XX=46004;gnomADv4_1_AC_joint_XY=44126;gnomADv4_1_AF_grpmax_joint=0.73779;gnomADv4_1_AF_joint=0.592399;gnomADv4_1_AF_joint_XX=0.591539;gnomADv4_1_AF_joint_XY=0.593299;gnomADv4_1_AN_grpmax_joint=4832;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=27325;gnomADv4_1_nhomalt_joint_XX=13941;gnomADv4_1_nhomalt_joint_XY=13384;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28648657 chr22_28648657_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.233;CADD_Rawscore=-0.38761;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-18827G>A|||||||rs183376176||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28648657C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-18827G>A|||||||rs183376176||-1||HGNC|HGNC:29179|2||||||||Ensembl||C|C||||chr22:g.28648657C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-18827G>A|||||||rs183376176||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28648657C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-18827G>A|||||||rs183376176||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28648657C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.24+7713G>A|||||||rs183376176||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28648657C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-18827G>A|||||||rs183376176||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28648657C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-18827G>A|||||||rs183376176||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28648657C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-18827G>A|||||||rs183376176||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28648657C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||||||||||rs183376176|2280|-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||C|C||||chr22:g.28648657C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.24+7713G>A|||||||rs183376176||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28648657C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|34|24|34|-20;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=852;gnomADv4_1_AC_joint_XX=447;gnomADv4_1_AC_joint_XY=405;gnomADv4_1_AF_grpmax_joint=0.0088199;gnomADv4_1_AF_joint=0.00559371;gnomADv4_1_AF_joint_XX=0.0057427;gnomADv4_1_AF_joint_XY=0.00543799;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152314;gnomADv4_1_AN_joint_XX=77838;gnomADv4_1_AN_joint_XY=74476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=3;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28649245 chr22_28649245_T_C T C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=5.039;CADD_Rawscore=0.459517;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-19415A>G|||||||rs5762733||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28649245T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-19415A>G|||||||rs5762733||-1||HGNC|HGNC:29179|2||||||||Ensembl||T|T||||chr22:g.28649245T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-19415A>G|||||||rs5762733||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28649245T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-19415A>G|||||||rs5762733||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28649245T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.24+7125A>G|||||||rs5762733||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28649245T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-19415A>G|||||||rs5762733||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28649245T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-19415A>G|||||||rs5762733||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28649245T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-19415A>G|||||||rs5762733||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28649245T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||||||||||rs5762733|2868|-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||T|T||||chr22:g.28649245T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.24+7125A>G|||||||rs5762733||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28649245T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-17|-2|21|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10083;gnomADv4_1_AC_joint_XX=4953;gnomADv4_1_AC_joint_XY=5130;gnomADv4_1_AF_grpmax_joint=0.144546;gnomADv4_1_AF_joint=0.0662518;gnomADv4_1_AF_joint_XX=0.063678;gnomADv4_1_AF_joint_XY=0.0689423;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152192;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=510;gnomADv4_1_nhomalt_joint_XX=224;gnomADv4_1_nhomalt_joint_XY=286;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28650252 chr22_28650252_A_T A T 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=6.943;CADD_Rawscore=0.651935;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-20422T>A|||||||rs5762734||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28650252A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-20422T>A|||||||rs5762734||-1||HGNC|HGNC:29179|2||||||||Ensembl||A|A||||chr22:g.28650252A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-20422T>A|||||||rs5762734||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28650252A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-20422T>A|||||||rs5762734||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28650252A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.24+6118T>A|||||||rs5762734||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||A|A||||chr22:g.28650252A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-20422T>A|||||||rs5762734||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28650252A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-20422T>A|||||||rs5762734||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28650252A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-20422T>A|||||||rs5762734||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28650252A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_017028673.3|protein_coding||||||||||rs5762734|3875|-1||EntrezGene|HGNC:29179|||XP_016884162.1||||||RefSeq||A|A||||chr22:g.28650252A>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.24+6118T>A|||||||rs5762734||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||A|A||||chr22:g.28650252A>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|41|-23|12|-23;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_017028673.3,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12006;gnomADv4_1_AC_joint_XX=5956;gnomADv4_1_AC_joint_XY=6050;gnomADv4_1_AF_grpmax_joint=0.159528;gnomADv4_1_AF_joint=0.0788768;gnomADv4_1_AF_joint_XX=0.0765553;gnomADv4_1_AF_joint_XY=0.0813041;gnomADv4_1_AN_grpmax_joint=15270;gnomADv4_1_AN_joint=152212;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=597;gnomADv4_1_nhomalt_joint_XX=267;gnomADv4_1_nhomalt_joint_XY=330;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28652086 chr22_28652086_C_G C G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.976;CADD_Rawscore=-0.02408;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.103-22256G>C|||||||rs5752766||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28652086C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.192-22256G>C|||||||rs5752766||-1||HGNC|HGNC:29179|2||||||||Ensembl||C|C||||chr22:g.28652086C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.103-22256G>C|||||||rs5752766||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28652086C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.103-22256G>C|||||||rs5752766||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28652086C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.24+4284G>C|||||||rs5752766||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28652086C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.103-22256G>C|||||||rs5752766||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28652086C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.103-22256G>C|||||||rs5752766||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28652086C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.103-22256G>C|||||||rs5752766||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28652086C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.24+4284G>C|||||||rs5752766||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28652086C>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|47|7|-47|30;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40840;gnomADv4_1_AC_joint_XX=20920;gnomADv4_1_AC_joint_XY=19920;gnomADv4_1_AF_grpmax_joint=0.404762;gnomADv4_1_AF_joint=0.268504;gnomADv4_1_AF_joint_XX=0.269109;gnomADv4_1_AF_joint_XY=0.267872;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6855;gnomADv4_1_nhomalt_joint_XX=3543;gnomADv4_1_nhomalt_joint_XY=3312;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28655275 chr22_28655275_C_T C T 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=3.637;CADD_Rawscore=0.333002;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+24347G>A|||||||rs5762735||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28655275C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+24347G>A|||||||rs5762735||-1||HGNC|HGNC:29179|2||||||||Ensembl||C|C||||chr22:g.28655275C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+24347G>A|||||||rs5762735||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28655275C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+24347G>A|||||||rs5762735||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28655275C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.24+1095G>A|||||||rs5762735||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28655275C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+24347G>A|||||||rs5762735||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28655275C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+24347G>A|||||||rs5762735||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28655275C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+24347G>A|||||||rs5762735||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28655275C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.24+1095G>A|||||||rs5762735||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28655275C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-37|34|3|5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152029;gnomADv4_1_AC_joint_XX=77681;gnomADv4_1_AC_joint_XY=74348;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.997945;gnomADv4_1_AF_joint_XX=0.997957;gnomADv4_1_AF_joint_XY=0.997933;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152342;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74502;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75858;gnomADv4_1_nhomalt_joint_XX=38761;gnomADv4_1_nhomalt_joint_XY=37097;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28655396 chr22_28655396_C_T C T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.076;CADD_Rawscore=0.17383;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+24226G>A|||||||rs373958053||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28655396C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+24226G>A|||||||rs373958053||-1||HGNC|HGNC:29179|2||||||||Ensembl||C|C||||chr22:g.28655396C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+24226G>A|||||||rs373958053||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28655396C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+24226G>A|||||||rs373958053||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28655396C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||1/22|XM_011530018.4:c.24+974G>A|||||||rs373958053||-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28655396C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+24226G>A|||||||rs373958053||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28655396C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+24226G>A|||||||rs373958053||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28655396C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+24226G>A|||||||rs373958053||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28655396C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||1/21|XM_047441214.1:c.24+974G>A|||||||rs373958053||-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28655396C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-7|-14|38|-41;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=475;gnomADv4_1_AC_joint_XX=242;gnomADv4_1_AC_joint_XY=233;gnomADv4_1_AF_grpmax_joint=0.00444065;gnomADv4_1_AF_joint=0.00311999;gnomADv4_1_AF_joint_XX=0.00311062;gnomADv4_1_AF_joint_XY=0.00312979;gnomADv4_1_AN_grpmax_joint=68008;gnomADv4_1_AN_joint=152244;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28657015 chr22_28657015_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=4.556;CADD_Rawscore=0.414993;CSQ=T|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+22607G>A|||||||rs5762736||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28657015C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+22607G>A|||||||rs5762736||-1||HGNC|HGNC:29179|2||||||||Ensembl||C|C||||chr22:g.28657015C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+22607G>A|||||||rs5762736||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28657015C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+22607G>A|||||||rs5762736||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28657015C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||||||||||rs5762736|224|-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||C|C||||chr22:g.28657015C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+22607G>A|||||||rs5762736||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28657015C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+22607G>A|||||||rs5762736||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28657015C>T|||||||||||||,T|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+22607G>A|||||||rs5762736||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28657015C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||||||||||rs5762736|224|-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||C|C||||chr22:g.28657015C>T|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-2|-6|3|-28;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40750;gnomADv4_1_AC_joint_XX=20890;gnomADv4_1_AC_joint_XY=19860;gnomADv4_1_AF_grpmax_joint=0.397959;gnomADv4_1_AF_joint=0.267972;gnomADv4_1_AF_joint_XX=0.268689;gnomADv4_1_AF_joint_XY=0.267223;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6825;gnomADv4_1_nhomalt_joint_XX=3526;gnomADv4_1_nhomalt_joint_XY=3299;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28657300 chr22_28657300_T_C T C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=6.157;CADD_Rawscore=0.5692;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+22322A>G|||||||rs73170615||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28657300T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+22322A>G|||||||rs73170615||-1||HGNC|HGNC:29179|2||||||||Ensembl||T|T||||chr22:g.28657300T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+22322A>G|||||||rs73170615||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28657300T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+22322A>G|||||||rs73170615||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28657300T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||||||||||rs73170615|509|-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28657300T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+22322A>G|||||||rs73170615||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28657300T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+22322A>G|||||||rs73170615||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28657300T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+22322A>G|||||||rs73170615||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28657300T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||||||||||rs73170615|509|-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28657300T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|4|-11|-31|24;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5042;gnomADv4_1_AC_joint_XX=2740;gnomADv4_1_AC_joint_XY=2302;gnomADv4_1_AF_grpmax_joint=0.0680272;gnomADv4_1_AF_joint=0.0331035;gnomADv4_1_AF_joint_XX=0.035204;gnomADv4_1_AF_joint_XY=0.0309085;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152310;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=125;gnomADv4_1_nhomalt_joint_XX=75;gnomADv4_1_nhomalt_joint_XY=50;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28658585 chr22_28658585_T_C T C 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=11.84;CADD_Rawscore=1.15439;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+21037A>G|||||||rs5762737||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28658585T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+21037A>G|||||||rs5762737||-1||HGNC|HGNC:29179|2||||||||Ensembl||T|T||||chr22:g.28658585T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+21037A>G|||||||rs5762737||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28658585T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+21037A>G|||||||rs5762737||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28658585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||||||||||rs5762737|1794|-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28658585T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+21037A>G|||||||rs5762737||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28658585T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+21037A>G|||||||rs5762737||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28658585T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+21037A>G|||||||rs5762737||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28658585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||||||||||rs5762737|1794|-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28658585T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-12|43|-10|11;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61664;gnomADv4_1_AC_joint_XX=31269;gnomADv4_1_AC_joint_XY=30395;gnomADv4_1_AF_grpmax_joint=0.62775;gnomADv4_1_AF_joint=0.40537;gnomADv4_1_AF_joint_XX=0.402112;gnomADv4_1_AF_joint_XY=0.408777;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14346;gnomADv4_1_nhomalt_joint_XX=7234;gnomADv4_1_nhomalt_joint_XY=7112;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28659128 chr22_28659128_T_A T A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.841;CADD_Rawscore=0.141992;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+20494A>T|||||||rs1000878200||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28659128T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+20494A>T|||||||rs1000878200||-1||HGNC|HGNC:29179|2||||||||Ensembl||T|T||||chr22:g.28659128T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+20494A>T|||||||rs1000878200||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28659128T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+20494A>T|||||||rs1000878200||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28659128T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||||||||||rs1000878200|2337|-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28659128T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+20494A>T|||||||rs1000878200||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28659128T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+20494A>T|||||||rs1000878200||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28659128T>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+20494A>T|||||||rs1000878200||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28659128T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||||||||||rs1000878200|2337|-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28659128T>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|21|-4|-28|44;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31;gnomADv4_1_AC_joint_XX=16;gnomADv4_1_AC_joint_XY=15;gnomADv4_1_AF_grpmax_joint=7.34991e-05;gnomADv4_1_AF_joint=0.00020369;gnomADv4_1_AF_joint_XX=0.000205539;gnomADv4_1_AF_joint_XY=0.000201754;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152192;gnomADv4_1_AN_joint_XX=77844;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28659802 chr22_28659802_AT_A AT A 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.591;CADDIndel_Rawscore=-0.151417;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+19819del|||||||rs74654093||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28659813del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+19819del|||||||rs74654093||-1||HGNC|HGNC:29179|2||||||||Ensembl||T|T||||chr22:g.28659813del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+19819del|||||||rs74654093||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28659813del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+19819del|||||||rs74654093||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28659813del|||||||||||||,-|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530018.4|protein_coding||||||||||rs74654093|3012|-1||EntrezGene|HGNC:29179|||XP_011528320.1||||||RefSeq||T|T||||chr22:g.28659813del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+19819del|||||||rs74654093||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28659813del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+19819del|||||||rs74654093||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28659813del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+19819del|||||||rs74654093||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28659813del|||||||||||||,-|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_047441214.1|protein_coding||||||||||rs74654093|3012|-1||EntrezGene|HGNC:29179|||XP_047297170.1||||||RefSeq||T|T||||chr22:g.28659813del|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-36|-10|0|2;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530018.4,XM_011530019.3,XM_011530020.2,XM_011530021.4,XM_047441214.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19756;gnomADv4_1_AC_joint_XX=9857;gnomADv4_1_AC_joint_XY=9899;gnomADv4_1_AF_grpmax_joint=0.352495;gnomADv4_1_AF_joint=0.134857;gnomADv4_1_AF_joint_XX=0.130962;gnomADv4_1_AF_joint_XY=0.138972;gnomADv4_1_AN_grpmax_joint=5010;gnomADv4_1_AN_joint=146496;gnomADv4_1_AN_joint_XX=75266;gnomADv4_1_AN_joint_XY=71230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1598;gnomADv4_1_nhomalt_joint_XX=721;gnomADv4_1_nhomalt_joint_XY=877;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28669161 chr22_28669161_A_G A G 45 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=4.052;CADD_Rawscore=0.369886;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+10461T>C|||||||rs9613661||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28669161A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+10461T>C|||||||rs9613661||-1||HGNC|HGNC:29179|2||||||||Ensembl||A|A||||chr22:g.28669161A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+10461T>C|||||||rs9613661||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28669161A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+10461T>C|||||||rs9613661||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28669161A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+10461T>C|||||||rs9613661||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28669161A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+10461T>C|||||||rs9613661||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28669161A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+10461T>C|||||||rs9613661||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28669161A>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|38|49|33|-50;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530019.3,XM_011530020.2,XM_011530021.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=76104;gnomADv4_1_AC_joint_XX=40687;gnomADv4_1_AC_joint_XY=35417;gnomADv4_1_AF_grpmax_joint=0.778298;gnomADv4_1_AF_joint=0.707562;gnomADv4_1_AF_joint_XX=0.712432;gnomADv4_1_AF_joint_XY=0.70205;gnomADv4_1_AN_grpmax_joint=2774;gnomADv4_1_AN_joint=107558;gnomADv4_1_AN_joint_XX=57110;gnomADv4_1_AN_joint_XY=50448;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=26637;gnomADv4_1_nhomalt_joint_XX=14402;gnomADv4_1_nhomalt_joint_XY=12235;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28670098 chr22_28670098_TG_T TG T 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.136;CADDIndel_Rawscore=-0.52932;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+9523del|||||||rs34145718||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28670108del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+9523del|||||||rs34145718||-1||HGNC|HGNC:29179|2||||||||Ensembl||G|G||||chr22:g.28670108del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+9523del|||||||rs34145718||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28670108del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+9523del|||||||rs34145718||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28670108del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+9523del|||||||rs34145718||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28670108del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+9523del|||||||rs34145718||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28670108del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+9523del|||||||rs34145718||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28670108del|||||||||||||;SpliceAI=T|TTC28|0.00|0.00|0.00|0.00|-14|-22|-14|30;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530019.3,XM_011530020.2,XM_011530021.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27600;gnomADv4_1_AC_joint_XX=14053;gnomADv4_1_AC_joint_XY=13547;gnomADv4_1_AF_grpmax_joint=0.375494;gnomADv4_1_AF_joint=0.202343;gnomADv4_1_AF_joint_XX=0.198944;gnomADv4_1_AF_joint_XY=0.205994;gnomADv4_1_AN_grpmax_joint=4554;gnomADv4_1_AN_joint=136402;gnomADv4_1_AN_joint_XX=70638;gnomADv4_1_AN_joint_XY=65764;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2813;gnomADv4_1_nhomalt_joint_XX=1364;gnomADv4_1_nhomalt_joint_XY=1449;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28673435 chr22_28673435_C_G C G 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=0.37;CADD_Rawscore=-0.269046;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+6187G>C|||||||rs57071456||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28673435C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+6187G>C|||||||rs57071456||-1||HGNC|HGNC:29179|2||||||||Ensembl||C|C||||chr22:g.28673435C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+6187G>C|||||||rs57071456||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28673435C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+6187G>C|||||||rs57071456||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28673435C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+6187G>C|||||||rs57071456||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28673435C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+6187G>C|||||||rs57071456||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28673435C>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+6187G>C|||||||rs57071456||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28673435C>G|||||||||||||;SpliceAI=G|TTC28|0.00|0.00|0.00|0.00|25|0|6|17;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530019.3,XM_011530020.2,XM_011530021.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41313;gnomADv4_1_AC_joint_XX=20814;gnomADv4_1_AC_joint_XY=20499;gnomADv4_1_AF_grpmax_joint=0.381691;gnomADv4_1_AF_joint=0.2717;gnomADv4_1_AF_joint_XX=0.267718;gnomADv4_1_AF_joint_XY=0.275865;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152054;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5840;gnomADv4_1_nhomalt_joint_XX=2871;gnomADv4_1_nhomalt_joint_XY=2969;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28674817 chr22_28674817_CA_C CA C 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=0;AC_XY=4;AF=1.0;AF_XX=.;AF_XY=1.0;AN=4;AN_XX=0;AN_XY=4;AQ=46;CADDIndel_PHREDscore=1.565;CADDIndel_Rawscore=0.099306;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+4804del|||||||rs34351638||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28674836del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+4804del|||||||rs34351638||-1||HGNC|HGNC:29179|2||||||||Ensembl||A|A||||chr22:g.28674836del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+4804del|||||||rs34351638||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28674836del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+4804del|||||||rs34351638||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28674836del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+4804del|||||||rs34351638||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28674836del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+4804del|||||||rs34351638||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28674836del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+4804del|||||||rs34351638||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28674836del|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-10|-8|-39|-8;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530019.3,XM_011530020.2,XM_011530021.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55374;gnomADv4_1_AC_joint_XX=29264;gnomADv4_1_AC_joint_XY=26110;gnomADv4_1_AF_grpmax_joint=0.697635;gnomADv4_1_AF_joint=0.572791;gnomADv4_1_AF_joint_XX=0.571831;gnomADv4_1_AF_joint_XY=0.573871;gnomADv4_1_AN_grpmax_joint=2960;gnomADv4_1_AN_joint=96674;gnomADv4_1_AN_joint_XX=51176;gnomADv4_1_AN_joint_XY=45498;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=12041;gnomADv4_1_nhomalt_joint_XX=6261;gnomADv4_1_nhomalt_joint_XY=5780;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28675735 chr22_28675735_T_TCA T TCA 41 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.667;CADDIndel_Rawscore=-0.121057;CSQ=CA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+3885_102+3886dup|||||||rs71316854||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28675774_28675775dup|||||||||||||,CA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+3885_191+3886dup|||||||rs71316854||-1||HGNC|HGNC:29179|2||||||||Ensembl|||||||chr22:g.28675774_28675775dup|||||||||||||,CA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+3885_102+3886dup|||||||rs71316854||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28675774_28675775dup|||||||||||||,CA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+3885_102+3886dup|||||||rs71316854||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28675774_28675775dup|||||||||||||,CA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+3885_102+3886dup|||||||rs71316854||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28675774_28675775dup|||||||||||||,CA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+3885_102+3886dup|||||||rs71316854||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28675774_28675775dup|||||||||||||,CA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+3885_102+3886dup|||||||rs71316854||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28675774_28675775dup|||||||||||||;TYPE=INDEL;VEP_Allele=CA,CA,CA,CA,CA,CA,CA;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530019.3,XM_011530020.2,XM_011530021.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45845;gnomADv4_1_AC_joint_XX=24128;gnomADv4_1_AC_joint_XY=21717;gnomADv4_1_AF_grpmax_joint=0.387863;gnomADv4_1_AF_joint=0.340263;gnomADv4_1_AF_joint_XX=0.344587;gnomADv4_1_AF_joint_XY=0.335584;gnomADv4_1_AN_grpmax_joint=63146;gnomADv4_1_AN_joint=134734;gnomADv4_1_AN_joint_XX=70020;gnomADv4_1_AN_joint_XY=64714;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7866;gnomADv4_1_nhomalt_joint_XX=4213;gnomADv4_1_nhomalt_joint_XY=3653;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28676876 chr22_28676876_C_A C A 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.594;CADD_Rawscore=-0.150222;CSQ=A|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+2746G>T|||||||rs72617288||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28676876C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+2746G>T|||||||rs72617288||-1||HGNC|HGNC:29179|2||||||||Ensembl||C|C||||chr22:g.28676876C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+2746G>T|||||||rs72617288||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28676876C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+2746G>T|||||||rs72617288||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28676876C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+2746G>T|||||||rs72617288||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28676876C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+2746G>T|||||||rs72617288||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28676876C>A|||||||||||||,A|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+2746G>T|||||||rs72617288||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28676876C>A|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-21|-46|18|3;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530019.3,XM_011530020.2,XM_011530021.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20463;gnomADv4_1_AC_joint_XX=10159;gnomADv4_1_AC_joint_XY=10304;gnomADv4_1_AF_grpmax_joint=0.360659;gnomADv4_1_AF_joint=0.134673;gnomADv4_1_AF_joint_XX=0.130753;gnomADv4_1_AF_joint_XY=0.138774;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151946;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1701;gnomADv4_1_nhomalt_joint_XX=770;gnomADv4_1_nhomalt_joint_XY=931;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28676929 chr22_28676929_T_C T C 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.548;CADD_Rawscore=-0.170428;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+2693A>G|||||||rs5762741||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28676929T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+2693A>G|||||||rs5762741||-1||HGNC|HGNC:29179|2||||||||Ensembl||T|T||||chr22:g.28676929T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+2693A>G|||||||rs5762741||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28676929T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+2693A>G|||||||rs5762741||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28676929T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+2693A>G|||||||rs5762741||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28676929T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+2693A>G|||||||rs5762741||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28676929T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+2693A>G|||||||rs5762741||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28676929T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|32|-2|-35|29;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530019.3,XM_011530020.2,XM_011530021.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=89567;gnomADv4_1_AC_joint_XX=45755;gnomADv4_1_AC_joint_XY=43812;gnomADv4_1_AF_grpmax_joint=0.739176;gnomADv4_1_AF_joint=0.592986;gnomADv4_1_AF_joint_XX=0.591838;gnomADv4_1_AF_joint_XY=0.59419;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=151044;gnomADv4_1_AN_joint_XX=77310;gnomADv4_1_AN_joint_XY=73734;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=27120;gnomADv4_1_nhomalt_joint_XX=13848;gnomADv4_1_nhomalt_joint_XY=13272;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28677158 chr22_28677158_G_GAA G GAA 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=11;CADDIndel_PHREDscore=0.117;CADDIndel_Rawscore=-0.56944;CSQ=AA|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+2462_102+2463dup|||||||rs35292146||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28677175_28677176dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+2462_191+2463dup|||||||rs35292146||-1||HGNC|HGNC:29179|2||||||||Ensembl|||||||chr22:g.28677175_28677176dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+2462_102+2463dup|||||||rs35292146||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28677175_28677176dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+2462_102+2463dup|||||||rs35292146||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28677175_28677176dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+2462_102+2463dup|||||||rs35292146||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28677175_28677176dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+2462_102+2463dup|||||||rs35292146||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28677175_28677176dup|||||||||||||,AA|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+2462_102+2463dup|||||||rs35292146||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28677175_28677176dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530019.3,XM_011530020.2,XM_011530021.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=133;gnomADv4_1_AC_joint_XX=68;gnomADv4_1_AC_joint_XY=65;gnomADv4_1_AF_grpmax_joint=0.0114943;gnomADv4_1_AF_joint=0.00295385;gnomADv4_1_AF_joint_XX=0.00270077;gnomADv4_1_AF_joint_XY=0.00327489;gnomADv4_1_AN_grpmax_joint=10440;gnomADv4_1_AN_joint=45026;gnomADv4_1_AN_joint_XX=25178;gnomADv4_1_AN_joint_XY=19848;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3;gnomADv4_1_nhomalt_joint_XX=2;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28677175 chr22_28677175_AATATATAT_A AATATATAT A 27 MONOALLELIC AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=27;CADDIndel_PHREDscore=0.798;CADDIndel_Rawscore=-0.075606;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+2439_102+2446del|||||||rs143954002||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||ATATATAT|ATATATAT||||chr22:g.28677195_28677202del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+2439_191+2446del|||||||rs143954002||-1||HGNC|HGNC:29179|2||||||||Ensembl||ATATATAT|ATATATAT||||chr22:g.28677195_28677202del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+2439_102+2446del|||||||rs143954002||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||ATATATAT|ATATATAT||||chr22:g.28677195_28677202del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+2439_102+2446del|||||||rs143954002||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||ATATATAT|ATATATAT||||chr22:g.28677195_28677202del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+2439_102+2446del|||||||rs143954002||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||ATATATAT|ATATATAT||||chr22:g.28677195_28677202del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+2439_102+2446del|||||||rs143954002||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||ATATATAT|ATATATAT||||chr22:g.28677195_28677202del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+2439_102+2446del|||||||rs143954002||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||ATATATAT|ATATATAT||||chr22:g.28677195_28677202del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530019.3,XM_011530020.2,XM_011530021.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1288;gnomADv4_1_AC_joint_XX=672;gnomADv4_1_AC_joint_XY=616;gnomADv4_1_AF_grpmax_joint=0.0616438;gnomADv4_1_AF_joint=0.0185618;gnomADv4_1_AF_joint_XX=0.017587;gnomADv4_1_AF_joint_XY=0.0197563;gnomADv4_1_AN_grpmax_joint=146;gnomADv4_1_AN_joint=69390;gnomADv4_1_AN_joint_XX=38210;gnomADv4_1_AN_joint_XY=31180;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=67;gnomADv4_1_nhomalt_joint_XX=39;gnomADv4_1_nhomalt_joint_XY=28;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28677176 chr22_28677176_AT_A AT A 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=23;CADDIndel_PHREDscore=0.14;CADDIndel_Rawscore=-0.521649;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+2445del|||||||rs375445264||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28677177del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+2445del|||||||rs375445264||-1||HGNC|HGNC:29179|2||||||||Ensembl||T|T||||chr22:g.28677177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+2445del|||||||rs375445264||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28677177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+2445del|||||||rs375445264||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28677177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+2445del|||||||rs375445264||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28677177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+2445del|||||||rs375445264||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28677177del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+2445del|||||||rs375445264||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28677177del|||||||||||||;SpliceAI=A|TTC28|0.00|0.00|0.00|0.00|-13|-24|32|-48;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530019.3,XM_011530020.2,XM_011530021.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30058;gnomADv4_1_AC_joint_XX=17064;gnomADv4_1_AC_joint_XY=12994;gnomADv4_1_AF_grpmax_joint=0.566813;gnomADv4_1_AF_joint=0.514164;gnomADv4_1_AF_joint_XX=0.518789;gnomADv4_1_AF_joint_XY=0.508213;gnomADv4_1_AN_grpmax_joint=34080;gnomADv4_1_AN_joint=58460;gnomADv4_1_AN_joint_XX=32892;gnomADv4_1_AN_joint_XY=25568;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5831;gnomADv4_1_nhomalt_joint_XX=3342;gnomADv4_1_nhomalt_joint_XY=2489;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28677178 chr22_28677178_ATATAT_A ATATAT A 30 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=30;CADDIndel_PHREDscore=0.831;CADDIndel_Rawscore=-0.065482;CSQ=-|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+2439_102+2443del|||||||rs1569095496||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||TATAT|TATAT||||chr22:g.28677179_28677183del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+2439_191+2443del|||||||rs1569095496||-1||HGNC|HGNC:29179|2||||||||Ensembl||TATAT|TATAT||||chr22:g.28677179_28677183del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+2439_102+2443del|||||||rs1569095496||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||TATAT|TATAT||||chr22:g.28677179_28677183del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+2439_102+2443del|||||||rs1569095496||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||TATAT|TATAT||||chr22:g.28677179_28677183del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+2439_102+2443del|||||||rs1569095496||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||TATAT|TATAT||||chr22:g.28677179_28677183del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+2439_102+2443del|||||||rs1569095496||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||TATAT|TATAT||||chr22:g.28677179_28677183del|||||||||||||,-|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+2439_102+2443del|||||||rs1569095496||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||TATAT|TATAT||||chr22:g.28677179_28677183del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530019.3,XM_011530020.2,XM_011530021.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23590;gnomADv4_1_AC_joint_XX=13378;gnomADv4_1_AC_joint_XY=10212;gnomADv4_1_AF_grpmax_joint=0.530612;gnomADv4_1_AF_joint=0.406808;gnomADv4_1_AF_joint_XX=0.412113;gnomADv4_1_AF_joint_XY=0.400063;gnomADv4_1_AN_grpmax_joint=98;gnomADv4_1_AN_joint=57988;gnomADv4_1_AN_joint_XX=32462;gnomADv4_1_AN_joint_XY=25526;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3968;gnomADv4_1_nhomalt_joint_XX=2281;gnomADv4_1_nhomalt_joint_XY=1687;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28678410 chr22_28678410_T_C T C 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.114;CADD_Rawscore=0.010269;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+1212A>G|||||||rs111983983||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||T|T||||chr22:g.28678410T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+1212A>G|||||||rs111983983||-1||HGNC|HGNC:29179|2||||||||Ensembl||T|T||||chr22:g.28678410T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+1212A>G|||||||rs111983983||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||T|T||||chr22:g.28678410T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+1212A>G|||||||rs111983983||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||T|T||||chr22:g.28678410T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+1212A>G|||||||rs111983983||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||T|T||||chr22:g.28678410T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+1212A>G|||||||rs111983983||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||T|T||||chr22:g.28678410T>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+1212A>G|||||||rs111983983||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||T|T||||chr22:g.28678410T>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-46|-33|-36|10;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530019.3,XM_011530020.2,XM_011530021.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20602;gnomADv4_1_AC_joint_XX=10216;gnomADv4_1_AC_joint_XY=10386;gnomADv4_1_AF_grpmax_joint=0.371301;gnomADv4_1_AF_joint=0.135475;gnomADv4_1_AF_joint_XX=0.131402;gnomADv4_1_AF_joint_XY=0.139736;gnomADv4_1_AN_grpmax_joint=5136;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1728;gnomADv4_1_nhomalt_joint_XX=776;gnomADv4_1_nhomalt_joint_XY=952;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28679291 chr22_28679291_A_G A G 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=7.989;CADD_Rawscore=0.767538;CSQ=G|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+331T>C|||||||rs4822980||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||A|A||||chr22:g.28679291A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+331T>C|||||||rs4822980||-1||HGNC|HGNC:29179|2||||||||Ensembl||A|A||||chr22:g.28679291A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+331T>C|||||||rs4822980||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||A|A||||chr22:g.28679291A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+331T>C|||||||rs4822980||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||A|A||||chr22:g.28679291A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+331T>C|||||||rs4822980||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||A|A||||chr22:g.28679291A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+331T>C|||||||rs4822980||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||A|A||||chr22:g.28679291A>G|||||||||||||,G|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+331T>C|||||||rs4822980||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||A|A||||chr22:g.28679291A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7NN7|enhancer||||||||||rs4822980|||||||||||||||||||||chr22:g.28679291A>G|||||||||||||;SpliceAI=G|TTC28|0.06|0.00|0.06|0.00|16|-5|-25|16;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530019.3,XM_011530020.2,XM_011530021.4,ENSR22_B7NN7;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149931;gnomADv4_1_AC_joint_XX=76550;gnomADv4_1_AC_joint_XY=73381;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.984122;gnomADv4_1_AF_joint_XX=0.983251;gnomADv4_1_AF_joint_XY=0.985033;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152350;gnomADv4_1_AN_joint_XX=77854;gnomADv4_1_AN_joint_XY=74496;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73822;gnomADv4_1_nhomalt_joint_XX=37662;gnomADv4_1_nhomalt_joint_XY=36160;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28679331 chr22_28679331_G_C G C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=6.244;CADD_Rawscore=0.578097;CSQ=C|intron_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||1/22|ENST00000397906.7:c.102+291C>G|||||||rs6005835||-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||G|G||||chr22:g.28679331G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||1/1|ENST00000468807.1:n.191+291C>G|||||||rs6005835||-1||HGNC|HGNC:29179|2||||||||Ensembl||G|G||||chr22:g.28679331G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||1/22|NM_001145418.2:c.102+291C>G|||||||rs6005835||-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||G|G||||chr22:g.28679331G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||1/21|NM_001393403.1:c.102+291C>G|||||||rs6005835||-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||G|G||||chr22:g.28679331G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||1/14|XM_011530019.3:c.102+291C>G|||||||rs6005835||-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||G|G||||chr22:g.28679331G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||1/13|XM_011530020.2:c.102+291C>G|||||||rs6005835||-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||G|G||||chr22:g.28679331G>C|||||||||||||,C|intron_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||1/14|XM_011530021.4:c.102+291C>G|||||||rs6005835||-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||G|G||||chr22:g.28679331G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7NN7|enhancer||||||||||rs6005835|||||||||||||||||||||chr22:g.28679331G>C|||||||||||||;SpliceAI=C|TTC28|0.00|0.00|0.00|0.00|-4|-24|-4|-24;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530019.3,XM_011530020.2,XM_011530021.4,ENSR22_B7NN7;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,.;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=116523;gnomADv4_1_AC_joint_XX=59391;gnomADv4_1_AC_joint_XY=57132;gnomADv4_1_AF_grpmax_joint=0.849006;gnomADv4_1_AF_joint=0.765793;gnomADv4_1_AF_joint_XX=0.763675;gnomADv4_1_AF_joint_XY=0.768006;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=44809;gnomADv4_1_nhomalt_joint_XX=22804;gnomADv4_1_nhomalt_joint_XY=22005;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28679930 chr22_28679930_C_A C A 49 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=12.15;CADD_Rawscore=1.19445;CSQ=A|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||||||||||rs142383351|90|-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl||C|C||||chr22:g.28679930C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||||||||||rs142383351|118|-1||HGNC|HGNC:29179|2||||||||Ensembl||C|C||||chr22:g.28679930C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||||||||||rs142383351|90|-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq||C|C||||chr22:g.28679930C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||||||||||rs142383351|90|-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq||C|C||||chr22:g.28679930C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||||||||||rs142383351|90|-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq||C|C||||chr22:g.28679930C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||||||||||rs142383351|90|-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq||C|C||||chr22:g.28679930C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||||||||||rs142383351|90|-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq||C|C||||chr22:g.28679930C>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_58Q5NH|CTCF_binding_site||||||||||rs142383351|||||||||||||||||||||chr22:g.28679930C>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FDCM|promoter||||||||||rs142383351|||||||||||||||||||||chr22:g.28679930C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530019.3,XM_011530020.2,XM_011530021.4,ENSR22_58Q5NH,ENSR22_9FDCM;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature,RegulatoryFeature;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331,.,.;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61303;gnomADv4_1_AC_joint_XX=30929;gnomADv4_1_AC_joint_XY=30374;gnomADv4_1_AF_grpmax_joint=0.616739;gnomADv4_1_AF_joint=0.40027;gnomADv4_1_AF_joint_XX=0.39619;gnomADv4_1_AF_joint_XY=0.404512;gnomADv4_1_AN_grpmax_joint=5054;gnomADv4_1_AN_joint=153154;gnomADv4_1_AN_joint_XX=78066;gnomADv4_1_AN_joint_XY=75088;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13806;gnomADv4_1_nhomalt_joint_XX=6908;gnomADv4_1_nhomalt_joint_XY=6898;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28681643 chr22_28681643_C_CA C CA 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=1.764;CADDIndel_Rawscore=0.130772;CSQ=A|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000397906|protein_coding||||||||||rs34661406|1803|-1||HGNC|HGNC:29179|1|CCDS46678.1|ENSP00000381003|Q96AY4.199||UPI00003E58F8|||Ensembl|||||||chr22:g.28681644dup|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28|ENSG00000100154|Transcript|ENST00000468807|retained_intron||||||||||rs34661406|1831|-1||HGNC|HGNC:29179|2||||||||Ensembl|||||||chr22:g.28681644dup|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001145418.2|protein_coding||||||||||rs34661406|1803|-1||EntrezGene|HGNC:29179|||NP_001138890.1||||||RefSeq|||||||chr22:g.28681644dup|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|NM_001393403.1|protein_coding||||||||||rs34661406|1803|-1||EntrezGene|HGNC:29179|||NP_001380332.1||||||RefSeq|||||||chr22:g.28681644dup|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530019.3|protein_coding||||||||||rs34661406|1803|-1||EntrezGene|HGNC:29179|||XP_011528321.1||||||RefSeq|||||||chr22:g.28681644dup|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530020.2|protein_coding||||||||||rs34661406|1803|-1||EntrezGene|HGNC:29179|||XP_011528322.1||||||RefSeq|||||||chr22:g.28681644dup|||||||||||||,A|upstream_gene_variant|MODIFIER|TTC28|23331|Transcript|XM_011530021.4|protein_coding||||||||||rs34661406|1803|-1||EntrezGene|HGNC:29179|||XP_011528323.1||||||RefSeq|||||||chr22:g.28681644dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000397906,ENST00000468807,NM_001145418.2,NM_001393403.1,XM_011530019.3,XM_011530020.2,XM_011530021.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100154,ENSG00000100154,23331,23331,23331,23331,23331;VEP_SYMBOL=TTC28,TTC28,TTC28,TTC28,TTC28,TTC28,TTC28;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2644;gnomADv4_1_AC_joint_XX=1384;gnomADv4_1_AC_joint_XY=1260;gnomADv4_1_AF_grpmax_joint=0.0544218;gnomADv4_1_AF_joint=0.0173632;gnomADv4_1_AF_joint_XX=0.017781;gnomADv4_1_AF_joint_XY=0.0169264;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152276;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=37;gnomADv4_1_nhomalt_joint_XX=20;gnomADv4_1_nhomalt_joint_XY=17;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28685447 chr22_28685447_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.053;CADD_Rawscore=0.279564;CSQ=A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||||||||||rs1024658131|2296|-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||||||||||rs1024658131|2316|-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||||||||||rs1024658131|2296|-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||||||||||rs1024658131|2450|-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||||||||||rs1024658131|2296|-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||||||||||rs1024658131|2315|-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||||||||||rs1024658131|2296|-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||||||||||rs1024658131|2440|-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||||||||||rs1024658131|2296|-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||||||||||rs1024658131|2440|-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||||||||||rs1024658131|2296|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||||||||||rs1024658131|2440|-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||||||||||rs1024658131|2296|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||||||||||rs1024658131|2296|-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000472807|retained_intron||||||||||rs1024658131|2302|-1||HGNC|HGNC:16627|2||||||||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||||||||||rs1024658131|2297|-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||||||||||rs1024658131|2304|-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||||||||||rs1024658131|2319|-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||||||||||rs1024658131|2296|-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||||||||||rs1024658131|2296|-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28685447G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433728,ENST00000434810,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000472807,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4;gnomADv4_1_AC_joint_XX=4;gnomADv4_1_AC_joint_XY=0;gnomADv4_1_AF_grpmax_joint=2.41744e-05;gnomADv4_1_AF_joint=2.63168e-05;gnomADv4_1_AF_joint_XX=5.1439e-05;gnomADv4_1_AF_joint_XY=0.0;gnomADv4_1_AN_grpmax_joint=41366;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28686763 chr22_28686763_AG_A AG A 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=1.584;CADDIndel_Rawscore=0.102504;CSQ=-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||||||||||rs35851147|979|-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||||||||||rs35851147|999|-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||||||||||rs35851147|979|-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||||||||||rs35851147|1133|-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||||||||||rs35851147|979|-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||||||||||rs35851147|998|-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||||||||||rs35851147|979|-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||||||||||rs35851147|1123|-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||||||||||rs35851147|979|-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||||||||||rs35851147|1123|-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||||||||||rs35851147|979|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||||||||||rs35851147|1123|-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||||||||||rs35851147|979|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||||||||||rs35851147|979|-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000472807|retained_intron||||||||||rs35851147|985|-1||HGNC|HGNC:16627|2||||||||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||||||||||rs35851147|980|-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||||||||||rs35851147|987|-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||||||||||rs35851147|1002|-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||||||||||rs35851147|979|-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||||||||||rs35851147|979|-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28686766del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433728,ENST00000434810,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000472807,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61406;gnomADv4_1_AC_joint_XX=31161;gnomADv4_1_AC_joint_XY=30245;gnomADv4_1_AF_grpmax_joint=0.625339;gnomADv4_1_AF_joint=0.404125;gnomADv4_1_AF_joint_XX=0.401042;gnomADv4_1_AF_joint_XY=0.407351;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151948;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14227;gnomADv4_1_nhomalt_joint_XX=7188;gnomADv4_1_nhomalt_joint_XY=7039;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28690105 chr22_28690105_C_T C T 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.987;CADD_Rawscore=-0.021124;CSQ=T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||12/13|ENST00000348295.7:c.1375-890G>A|||||||rs2267129||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||14/15|ENST00000382580.6:c.1591-890G>A|||||||rs2267129||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||11/12|ENST00000402731.6:c.1261-890G>A|||||||rs2267129||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||10/11|ENST00000403642.5:c.1189-890G>A|||||||rs2267129||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||13/14|ENST00000404276.6:c.1462-890G>A|||||||rs2267129||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||14/15|ENST00000405598.5:c.1462-890G>A|||||||rs2267129||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||14/15|ENST00000416671.5:c.*952-890G>A|||||||rs2267129||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||11/12|ENST00000417588.5:c.*759-890G>A|||||||rs2267129||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||12/13|ENST00000425190.7:c.799-890G>A|||||||rs2267129||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||11/12|ENST00000433728.5:c.*530-890G>A|||||||rs2267129||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||8/9|ENST00000434810.5:c.660-890G>A|||||||rs2267129||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||12/13|ENST00000448511.5:c.*854-890G>A|||||||rs2267129||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.264-890G>A|||||||rs2267129||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||9/10|ENST00000464581.6:c.802-890G>A|||||||rs2267129||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000472807|retained_intron||||||||||rs2267129|695|-1||HGNC|HGNC:16627|2||||||||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||9/10|ENST00000648295.1:n.1014-890G>A|||||||rs2267129||-1||HGNC|HGNC:16627|||||||||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||10/11|ENST00000649563.1:c.799-890G>A|||||||rs2267129||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||14/15|ENST00000650281.1:c.1462-890G>A|||||||rs2267129||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||11/12|ENST00000711048.1:c.*197-890G>A|||||||rs2267129||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||C|C||1||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||14/15|NM_001005735.2:c.1591-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||14/15|NM_001257387.2:c.799-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||12/13|NM_001349956.2:c.1261-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||13/14|NM_007194.4:c.1462-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||12/13|NM_145862.2:c.1375-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||C|C|OK|||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||9/10|XM_006724114.4:c.982-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||9/10|XM_006724116.3:c.919-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||14/15|XM_011529839.3:c.1621-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||13/14|XM_011529840.4:c.1534-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||12/13|XM_011529842.3:c.1291-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||12/13|XM_011529845.3:c.799-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||14/15|XM_017028560.2:c.1585-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||13/14|XM_024452148.2:c.1492-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||12/13|XM_024452149.2:c.1405-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||14/15|XM_047441104.1:c.1555-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||13/14|XM_047441105.1:c.1504-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||13/14|XM_047441106.1:c.1468-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||13/14|XM_047441107.1:c.1420-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||8/9|XM_047441108.1:c.895-890G>A|||||||rs2267129||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||C|C||||chr22:g.28690105C>T|||||||||||||;SpliceAI=T|CHEK2|0.00|0.00|0.00|0.00|9|-43|-12|50;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433728,ENST00000434810,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000472807,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61519;gnomADv4_1_AC_joint_XX=31211;gnomADv4_1_AC_joint_XY=30308;gnomADv4_1_AF_grpmax_joint=0.627622;gnomADv4_1_AF_joint=0.404768;gnomADv4_1_AF_joint_XX=0.401727;gnomADv4_1_AF_joint_XY=0.407947;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14277;gnomADv4_1_nhomalt_joint_XX=7212;gnomADv4_1_nhomalt_joint_XY=7065;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28691053 chr22_28691053_T_C T C 47 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=0;AC_XY=4;AF=1.0;AF_XX=.;AF_XY=1.0;AN=4;AN_XX=0;AN_XY=4;AQ=47;CADD_PHREDscore=0.091;CADD_Rawscore=-0.636155;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||12/13|ENST00000348295.7:c.1375-1838A>G|||||||rs4035540||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||14/15|ENST00000382580.6:c.1591-1838A>G|||||||rs4035540||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||11/12|ENST00000402731.6:c.1261-1838A>G|||||||rs4035540||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||10/11|ENST00000403642.5:c.1189-1838A>G|||||||rs4035540||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||13/14|ENST00000404276.6:c.1462-1838A>G|||||||rs4035540||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||14/15|ENST00000405598.5:c.1462-1838A>G|||||||rs4035540||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||14/15|ENST00000416671.5:c.*952-1838A>G|||||||rs4035540||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||11/12|ENST00000417588.5:c.*759-1838A>G|||||||rs4035540||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||12/13|ENST00000425190.7:c.799-1838A>G|||||||rs4035540||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||11/12|ENST00000433728.5:c.*530-1838A>G|||||||rs4035540||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||8/9|ENST00000434810.5:c.660-1838A>G|||||||rs4035540||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||12/13|ENST00000448511.5:c.*854-1838A>G|||||||rs4035540||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.264-1838A>G|||||||rs4035540||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||9/10|ENST00000464581.6:c.802-1838A>G|||||||rs4035540||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000472807|retained_intron||||||||||rs4035540|1643|-1||HGNC|HGNC:16627|2||||||||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||9/10|ENST00000648295.1:n.1014-1838A>G|||||||rs4035540||-1||HGNC|HGNC:16627|||||||||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||10/11|ENST00000649563.1:c.799-1838A>G|||||||rs4035540||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||14/15|ENST00000650281.1:c.1462-1838A>G|||||||rs4035540||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||11/12|ENST00000711048.1:c.*197-1838A>G|||||||rs4035540||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||14/15|NM_001005735.2:c.1591-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||14/15|NM_001257387.2:c.799-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||12/13|NM_001349956.2:c.1261-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||13/14|NM_007194.4:c.1462-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||12/13|NM_145862.2:c.1375-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||9/10|XM_006724114.4:c.982-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||9/10|XM_006724116.3:c.919-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||14/15|XM_011529839.3:c.1621-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||13/14|XM_011529840.4:c.1534-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||12/13|XM_011529842.3:c.1291-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||12/13|XM_011529845.3:c.799-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||14/15|XM_017028560.2:c.1585-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||13/14|XM_024452148.2:c.1492-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||12/13|XM_024452149.2:c.1405-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||14/15|XM_047441104.1:c.1555-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||13/14|XM_047441105.1:c.1504-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||13/14|XM_047441106.1:c.1468-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||13/14|XM_047441107.1:c.1420-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||8/9|XM_047441108.1:c.895-1838A>G|||||||rs4035540||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs4035540|4733|-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28691053T>C|||1||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|20|-2|26|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433728,ENST00000434810,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000472807,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_937806.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=117103;gnomADv4_1_AC_joint_XX=59709;gnomADv4_1_AC_joint_XY=57394;gnomADv4_1_AF_grpmax_joint=0.863311;gnomADv4_1_AF_joint=0.790991;gnomADv4_1_AF_joint_XX=0.789822;gnomADv4_1_AF_joint_XY=0.79221;gnomADv4_1_AN_grpmax_joint=4748;gnomADv4_1_AN_joint=148046;gnomADv4_1_AN_joint_XX=75598;gnomADv4_1_AN_joint_XY=72448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=45055;gnomADv4_1_nhomalt_joint_XX=22935;gnomADv4_1_nhomalt_joint_XY=22120;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28691154 chr22_28691154_G_C G C 21 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=21;CADD_PHREDscore=0.574;CADD_Rawscore=-0.158706;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||12/13|ENST00000348295.7:c.1375-1939C>G|||||||rs28613006||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||14/15|ENST00000382580.6:c.1591-1939C>G|||||||rs28613006||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||11/12|ENST00000402731.6:c.1261-1939C>G|||||||rs28613006||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||10/11|ENST00000403642.5:c.1189-1939C>G|||||||rs28613006||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||13/14|ENST00000404276.6:c.1462-1939C>G|||||||rs28613006||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||14/15|ENST00000405598.5:c.1462-1939C>G|||||||rs28613006||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||14/15|ENST00000416671.5:c.*952-1939C>G|||||||rs28613006||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||11/12|ENST00000417588.5:c.*759-1939C>G|||||||rs28613006||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||12/13|ENST00000425190.7:c.799-1939C>G|||||||rs28613006||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||11/12|ENST00000433728.5:c.*530-1939C>G|||||||rs28613006||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||8/9|ENST00000434810.5:c.660-1939C>G|||||||rs28613006||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||12/13|ENST00000448511.5:c.*854-1939C>G|||||||rs28613006||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.264-1939C>G|||||||rs28613006||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||9/10|ENST00000464581.6:c.802-1939C>G|||||||rs28613006||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000472807|retained_intron||||||||||rs28613006|1744|-1||HGNC|HGNC:16627|2||||||||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||9/10|ENST00000648295.1:n.1014-1939C>G|||||||rs28613006||-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||10/11|ENST00000649563.1:c.799-1939C>G|||||||rs28613006||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||14/15|ENST00000650281.1:c.1462-1939C>G|||||||rs28613006||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||11/12|ENST00000711048.1:c.*197-1939C>G|||||||rs28613006||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||14/15|NM_001005735.2:c.1591-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||14/15|NM_001257387.2:c.799-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||12/13|NM_001349956.2:c.1261-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||13/14|NM_007194.4:c.1462-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||12/13|NM_145862.2:c.1375-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||9/10|XM_006724114.4:c.982-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||9/10|XM_006724116.3:c.919-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||14/15|XM_011529839.3:c.1621-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||13/14|XM_011529840.4:c.1534-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||12/13|XM_011529842.3:c.1291-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||12/13|XM_011529845.3:c.799-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||14/15|XM_017028560.2:c.1585-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||13/14|XM_024452148.2:c.1492-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||12/13|XM_024452149.2:c.1405-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||14/15|XM_047441104.1:c.1555-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||13/14|XM_047441105.1:c.1504-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||13/14|XM_047441106.1:c.1468-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||13/14|XM_047441107.1:c.1420-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||8/9|XM_047441108.1:c.895-1939C>G|||||||rs28613006||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs28613006|4632|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28691154G>C|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|21|-21|21|-21;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433728,ENST00000434810,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000472807,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_937806.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25680;gnomADv4_1_AC_joint_XX=13177;gnomADv4_1_AC_joint_XY=12503;gnomADv4_1_AF_grpmax_joint=0.238871;gnomADv4_1_AF_joint=0.17052;gnomADv4_1_AF_joint_XX=0.171214;gnomADv4_1_AF_joint_XY=0.169795;gnomADv4_1_AN_grpmax_joint=66944;gnomADv4_1_AN_joint=150598;gnomADv4_1_AN_joint_XX=76962;gnomADv4_1_AN_joint_XY=73636;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1715;gnomADv4_1_nhomalt_joint_XX=863;gnomADv4_1_nhomalt_joint_XY=852;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28691460 chr22_28691460_A_G A G 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=39;CADD_PHREDscore=4.751;CADD_Rawscore=0.432753;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||12/13|ENST00000348295.7:c.1375-2245T>C|||||||rs3963405||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||14/15|ENST00000382580.6:c.1591-2245T>C|||||||rs3963405||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||11/12|ENST00000402731.6:c.1261-2245T>C|||||||rs3963405||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||10/11|ENST00000403642.5:c.1189-2245T>C|||||||rs3963405||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||13/14|ENST00000404276.6:c.1462-2245T>C|||||||rs3963405||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||14/15|ENST00000405598.5:c.1462-2245T>C|||||||rs3963405||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||14/15|ENST00000416671.5:c.*952-2245T>C|||||||rs3963405||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||11/12|ENST00000417588.5:c.*759-2245T>C|||||||rs3963405||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||12/13|ENST00000425190.7:c.799-2245T>C|||||||rs3963405||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||11/12|ENST00000433728.5:c.*530-2245T>C|||||||rs3963405||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||8/9|ENST00000434810.5:c.660-2245T>C|||||||rs3963405||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||12/13|ENST00000448511.5:c.*854-2245T>C|||||||rs3963405||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.264-2245T>C|||||||rs3963405||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||9/10|ENST00000464581.6:c.802-2245T>C|||||||rs3963405||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000472807|retained_intron||||||||||rs3963405|2050|-1||HGNC|HGNC:16627|2||||||||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||9/10|ENST00000648295.1:n.1014-2245T>C|||||||rs3963405||-1||HGNC|HGNC:16627|||||||||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||10/11|ENST00000649563.1:c.799-2245T>C|||||||rs3963405||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||14/15|ENST00000650281.1:c.1462-2245T>C|||||||rs3963405||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||11/12|ENST00000711048.1:c.*197-2245T>C|||||||rs3963405||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||14/15|NM_001005735.2:c.1591-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||14/15|NM_001257387.2:c.799-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||12/13|NM_001349956.2:c.1261-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||13/14|NM_007194.4:c.1462-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||12/13|NM_145862.2:c.1375-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||9/10|XM_006724114.4:c.982-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||9/10|XM_006724116.3:c.919-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||14/15|XM_011529839.3:c.1621-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||13/14|XM_011529840.4:c.1534-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||12/13|XM_011529842.3:c.1291-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||12/13|XM_011529845.3:c.799-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||14/15|XM_017028560.2:c.1585-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||13/14|XM_024452148.2:c.1492-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||12/13|XM_024452149.2:c.1405-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||14/15|XM_047441104.1:c.1555-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||13/14|XM_047441105.1:c.1504-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||13/14|XM_047441106.1:c.1468-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||13/14|XM_047441107.1:c.1420-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||8/9|XM_047441108.1:c.895-2245T>C|||||||rs3963405||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs3963405|4326|-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28691460A>G|||||||||||||;SpliceAI=G|CHEK2|0.03|0.00|0.00|0.00|15|-10|15|-10;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433728,ENST00000434810,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000472807,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_937806.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53204;gnomADv4_1_AC_joint_XX=27152;gnomADv4_1_AC_joint_XY=26052;gnomADv4_1_AF_grpmax_joint=0.507299;gnomADv4_1_AF_joint=0.363316;gnomADv4_1_AF_joint_XX=0.362665;gnomADv4_1_AF_joint_XY=0.363997;gnomADv4_1_AN_grpmax_joint=274;gnomADv4_1_AN_joint=146440;gnomADv4_1_AN_joint_XX=74868;gnomADv4_1_AN_joint_XY=71572;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3643;gnomADv4_1_nhomalt_joint_XX=1849;gnomADv4_1_nhomalt_joint_XY=1794;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28691830 chr22_28691830_G_A G A 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.228;CADD_Rawscore=-0.393146;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||12/13|ENST00000348295.7:c.1374+2202C>T|||||||rs3859887||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||14/15|ENST00000382580.6:c.1590+2202C>T|||||||rs3859887||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||11/12|ENST00000402731.6:c.1260+2202C>T|||||||rs3859887||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||10/11|ENST00000403642.5:c.1188+2202C>T|||||||rs3859887||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||13/14|ENST00000404276.6:c.1461+2202C>T|||||||rs3859887||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||14/15|ENST00000405598.5:c.1461+2202C>T|||||||rs3859887||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||14/15|ENST00000416671.5:c.*951+2202C>T|||||||rs3859887||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||11/12|ENST00000417588.5:c.*758+2202C>T|||||||rs3859887||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||12/13|ENST00000425190.7:c.798+2202C>T|||||||rs3859887||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||11/12|ENST00000433728.5:c.*529+2202C>T|||||||rs3859887||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||8/9|ENST00000434810.5:c.659+2202C>T|||||||rs3859887||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||12/13|ENST00000448511.5:c.*853+2202C>T|||||||rs3859887||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.264-2615C>T|||||||rs3859887||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||9/10|ENST00000464581.6:c.801+2202C>T|||||||rs3859887||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000472807|retained_intron||||||||||rs3859887|2420|-1||HGNC|HGNC:16627|2||||||||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||9/10|ENST00000648295.1:n.1013+2202C>T|||||||rs3859887||-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||10/11|ENST00000649563.1:c.798+2202C>T|||||||rs3859887||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||14/15|ENST00000650281.1:c.1461+2202C>T|||||||rs3859887||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||11/12|ENST00000711048.1:c.*196+2202C>T|||||||rs3859887||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||14/15|NM_001005735.2:c.1590+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||14/15|NM_001257387.2:c.798+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||12/13|NM_001349956.2:c.1260+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||13/14|NM_007194.4:c.1461+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||12/13|NM_145862.2:c.1374+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||9/10|XM_006724114.4:c.981+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||9/10|XM_006724116.3:c.918+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||14/15|XM_011529839.3:c.1620+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||13/14|XM_011529840.4:c.1533+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||12/13|XM_011529842.3:c.1290+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||12/13|XM_011529845.3:c.798+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||14/15|XM_017028560.2:c.1584+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||13/14|XM_024452148.2:c.1491+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||12/13|XM_024452149.2:c.1404+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||14/15|XM_047441104.1:c.1554+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||13/14|XM_047441105.1:c.1503+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||13/14|XM_047441106.1:c.1467+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||13/14|XM_047441107.1:c.1419+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||8/9|XM_047441108.1:c.894+2202C>T|||||||rs3859887||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs3859887|3956|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28691830G>A|||||||||||||;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|-9|-11|14|-9;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433728,ENST00000434810,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000472807,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_937806.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87380;gnomADv4_1_AC_joint_XX=44543;gnomADv4_1_AC_joint_XY=42837;gnomADv4_1_AF_grpmax_joint=0.738174;gnomADv4_1_AF_joint=0.574634;gnomADv4_1_AF_joint_XX=0.5729;gnomADv4_1_AF_joint_XY=0.576448;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=26068;gnomADv4_1_nhomalt_joint_XX=13283;gnomADv4_1_nhomalt_joint_XY=12785;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28691841 chr22_28691841_G_C G C 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=5.958;CADD_Rawscore=0.54895;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||12/13|ENST00000348295.7:c.1374+2191C>G|||||||rs3859888||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||14/15|ENST00000382580.6:c.1590+2191C>G|||||||rs3859888||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||11/12|ENST00000402731.6:c.1260+2191C>G|||||||rs3859888||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||10/11|ENST00000403642.5:c.1188+2191C>G|||||||rs3859888||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||13/14|ENST00000404276.6:c.1461+2191C>G|||||||rs3859888||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||14/15|ENST00000405598.5:c.1461+2191C>G|||||||rs3859888||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||14/15|ENST00000416671.5:c.*951+2191C>G|||||||rs3859888||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||11/12|ENST00000417588.5:c.*758+2191C>G|||||||rs3859888||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||12/13|ENST00000425190.7:c.798+2191C>G|||||||rs3859888||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||11/12|ENST00000433728.5:c.*529+2191C>G|||||||rs3859888||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||8/9|ENST00000434810.5:c.659+2191C>G|||||||rs3859888||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||12/13|ENST00000448511.5:c.*853+2191C>G|||||||rs3859888||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.264-2626C>G|||||||rs3859888||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||9/10|ENST00000464581.6:c.801+2191C>G|||||||rs3859888||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000472807|retained_intron||||||||||rs3859888|2431|-1||HGNC|HGNC:16627|2||||||||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||9/10|ENST00000648295.1:n.1013+2191C>G|||||||rs3859888||-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||10/11|ENST00000649563.1:c.798+2191C>G|||||||rs3859888||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||14/15|ENST00000650281.1:c.1461+2191C>G|||||||rs3859888||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||11/12|ENST00000711048.1:c.*196+2191C>G|||||||rs3859888||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||14/15|NM_001005735.2:c.1590+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||14/15|NM_001257387.2:c.798+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||12/13|NM_001349956.2:c.1260+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||13/14|NM_007194.4:c.1461+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||12/13|NM_145862.2:c.1374+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||9/10|XM_006724114.4:c.981+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||9/10|XM_006724116.3:c.918+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||14/15|XM_011529839.3:c.1620+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||13/14|XM_011529840.4:c.1533+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||12/13|XM_011529842.3:c.1290+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||12/13|XM_011529845.3:c.798+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||14/15|XM_017028560.2:c.1584+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||13/14|XM_024452148.2:c.1491+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||12/13|XM_024452149.2:c.1404+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||14/15|XM_047441104.1:c.1554+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||13/14|XM_047441105.1:c.1503+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||13/14|XM_047441106.1:c.1467+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||13/14|XM_047441107.1:c.1419+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||8/9|XM_047441108.1:c.894+2191C>G|||||||rs3859888||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs3859888|3945|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28691841G>C|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|1|-20|41|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433728,ENST00000434810,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000472807,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_937806.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87414;gnomADv4_1_AC_joint_XX=44557;gnomADv4_1_AC_joint_XY=42857;gnomADv4_1_AF_grpmax_joint=0.737365;gnomADv4_1_AF_joint=0.574759;gnomADv4_1_AF_joint_XX=0.573036;gnomADv4_1_AF_joint_XY=0.576562;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=26086;gnomADv4_1_nhomalt_joint_XX=13287;gnomADv4_1_nhomalt_joint_XY=12799;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28692135 chr22_28692135_T_C T C 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.084;CADD_Rawscore=-0.657753;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||12/13|ENST00000348295.7:c.1374+1897A>G|||||||rs5762746||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||14/15|ENST00000382580.6:c.1590+1897A>G|||||||rs5762746||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||11/12|ENST00000402731.6:c.1260+1897A>G|||||||rs5762746||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||10/11|ENST00000403642.5:c.1188+1897A>G|||||||rs5762746||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||13/14|ENST00000404276.6:c.1461+1897A>G|||||||rs5762746||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||14/15|ENST00000405598.5:c.1461+1897A>G|||||||rs5762746||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||14/15|ENST00000416671.5:c.*951+1897A>G|||||||rs5762746||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||11/12|ENST00000417588.5:c.*758+1897A>G|||||||rs5762746||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||12/13|ENST00000425190.7:c.798+1897A>G|||||||rs5762746||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs5762746|4767|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||11/12|ENST00000433728.5:c.*529+1897A>G|||||||rs5762746||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||8/9|ENST00000434810.5:c.659+1897A>G|||||||rs5762746||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||12/13|ENST00000448511.5:c.*853+1897A>G|||||||rs5762746||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.264-2920A>G|||||||rs5762746||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||9/10|ENST00000464581.6:c.801+1897A>G|||||||rs5762746||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000472807|retained_intron||||||||||rs5762746|2725|-1||HGNC|HGNC:16627|2||||||||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||||||||||rs5762746|4809|-1||HGNC|HGNC:16627|3||||||||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||9/10|ENST00000648295.1:n.1013+1897A>G|||||||rs5762746||-1||HGNC|HGNC:16627|||||||||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||10/11|ENST00000649563.1:c.798+1897A>G|||||||rs5762746||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||14/15|ENST00000650281.1:c.1461+1897A>G|||||||rs5762746||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||11/12|ENST00000711048.1:c.*196+1897A>G|||||||rs5762746||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||14/15|NM_001005735.2:c.1590+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||14/15|NM_001257387.2:c.798+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||12/13|NM_001349956.2:c.1260+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||13/14|NM_007194.4:c.1461+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||12/13|NM_145862.2:c.1374+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||9/10|XM_006724114.4:c.981+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||9/10|XM_006724116.3:c.918+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||14/15|XM_011529839.3:c.1620+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||13/14|XM_011529840.4:c.1533+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||12/13|XM_011529842.3:c.1290+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||||||||||rs5762746|4859|-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||12/13|XM_011529845.3:c.798+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||14/15|XM_017028560.2:c.1584+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||13/14|XM_024452148.2:c.1491+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||12/13|XM_024452149.2:c.1404+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||14/15|XM_047441104.1:c.1554+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||13/14|XM_047441105.1:c.1503+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||13/14|XM_047441106.1:c.1467+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||13/14|XM_047441107.1:c.1419+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||8/9|XM_047441108.1:c.894+1897A>G|||||||rs5762746||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||||||||||rs5762746|4771|-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs5762746|4771|-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs5762746|3651|-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||||||||||rs5762746|4908|-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28692135T>C|||1||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|1|-35|1|-35;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000472807,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91875;gnomADv4_1_AC_joint_XX=46919;gnomADv4_1_AC_joint_XY=44956;gnomADv4_1_AF_grpmax_joint=0.739311;gnomADv4_1_AF_joint=0.604266;gnomADv4_1_AF_joint_XX=0.603522;gnomADv4_1_AF_joint_XY=0.605044;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28151;gnomADv4_1_nhomalt_joint_XX=14380;gnomADv4_1_nhomalt_joint_XY=13771;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28692471 chr22_28692471_T_TTTTG T TTTTG 46 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.846;CADDIndel_Rawscore=-0.060827;CSQ=TTTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||12/13|ENST00000348295.7:c.1374+1557_1374+1560dup|||||||rs35397484||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||14/15|ENST00000382580.6:c.1590+1557_1590+1560dup|||||||rs35397484||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||11/12|ENST00000402731.6:c.1260+1557_1260+1560dup|||||||rs35397484||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||10/11|ENST00000403642.5:c.1188+1557_1188+1560dup|||||||rs35397484||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||13/14|ENST00000404276.6:c.1461+1557_1461+1560dup|||||||rs35397484||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||14/15|ENST00000405598.5:c.1461+1557_1461+1560dup|||||||rs35397484||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||14/15|ENST00000416671.5:c.*951+1557_*951+1560dup|||||||rs35397484||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||11/12|ENST00000417588.5:c.*758+1557_*758+1560dup|||||||rs35397484||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||12/13|ENST00000425190.7:c.798+1557_798+1560dup|||||||rs35397484||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs35397484|4430|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||11/12|ENST00000433728.5:c.*529+1557_*529+1560dup|||||||rs35397484||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||8/9|ENST00000434810.5:c.659+1557_659+1560dup|||||||rs35397484||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||12/13|ENST00000448511.5:c.*853+1557_*853+1560dup|||||||rs35397484||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.264-3260_264-3257dup|||||||rs35397484||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||9/10|ENST00000464581.6:c.801+1557_801+1560dup|||||||rs35397484||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000472807|retained_intron||||||||||rs35397484|3061|-1||HGNC|HGNC:16627|2||||||||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||||||||||rs35397484|4472|-1||HGNC|HGNC:16627|3||||||||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||9/10|ENST00000648295.1:n.1013+1557_1013+1560dup|||||||rs35397484||-1||HGNC|HGNC:16627|||||||||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||10/11|ENST00000649563.1:c.798+1557_798+1560dup|||||||rs35397484||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||14/15|ENST00000650281.1:c.1461+1557_1461+1560dup|||||||rs35397484||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||11/12|ENST00000711048.1:c.*196+1557_*196+1560dup|||||||rs35397484||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||14/15|NM_001005735.2:c.1590+1557_1590+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||14/15|NM_001257387.2:c.798+1557_798+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||12/13|NM_001349956.2:c.1260+1557_1260+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||13/14|NM_007194.4:c.1461+1557_1461+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||12/13|NM_145862.2:c.1374+1557_1374+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||9/10|XM_006724114.4:c.981+1557_981+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||9/10|XM_006724116.3:c.918+1557_918+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||14/15|XM_011529839.3:c.1620+1557_1620+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||13/14|XM_011529840.4:c.1533+1557_1533+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||12/13|XM_011529842.3:c.1290+1557_1290+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||||||||||rs35397484|4522|-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||12/13|XM_011529845.3:c.798+1557_798+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||14/15|XM_017028560.2:c.1584+1557_1584+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||13/14|XM_024452148.2:c.1491+1557_1491+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||12/13|XM_024452149.2:c.1404+1557_1404+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||14/15|XM_047441104.1:c.1554+1557_1554+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||13/14|XM_047441105.1:c.1503+1557_1503+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||13/14|XM_047441106.1:c.1467+1557_1467+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||13/14|XM_047441107.1:c.1419+1557_1419+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||8/9|XM_047441108.1:c.894+1557_894+1560dup|||||||rs35397484||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||||||||||rs35397484|4434|-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs35397484|4434|-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs35397484|3314|-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||,TTTG|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||||||||||rs35397484|4571|-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28692491_28692494dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000472807,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=83291;gnomADv4_1_AC_joint_XX=42546;gnomADv4_1_AC_joint_XY=40745;gnomADv4_1_AF_grpmax_joint=0.724979;gnomADv4_1_AF_joint=0.55309;gnomADv4_1_AF_joint_XX=0.551457;gnomADv4_1_AF_joint_XY=0.554807;gnomADv4_1_AN_grpmax_joint=4756;gnomADv4_1_AN_joint=150592;gnomADv4_1_AN_joint_XX=77152;gnomADv4_1_AN_joint_XY=73440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=23644;gnomADv4_1_nhomalt_joint_XX=12069;gnomADv4_1_nhomalt_joint_XY=11575;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28692602 chr22_28692602_C_T C T 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=5.367;CADD_Rawscore=0.490718;CSQ=T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||12/13|ENST00000348295.7:c.1374+1430G>A|||||||rs9625533||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||14/15|ENST00000382580.6:c.1590+1430G>A|||||||rs9625533||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||11/12|ENST00000402731.6:c.1260+1430G>A|||||||rs9625533||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||10/11|ENST00000403642.5:c.1188+1430G>A|||||||rs9625533||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||13/14|ENST00000404276.6:c.1461+1430G>A|||||||rs9625533||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||14/15|ENST00000405598.5:c.1461+1430G>A|||||||rs9625533||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||14/15|ENST00000416671.5:c.*951+1430G>A|||||||rs9625533||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||11/12|ENST00000417588.5:c.*758+1430G>A|||||||rs9625533||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||12/13|ENST00000425190.7:c.798+1430G>A|||||||rs9625533||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs9625533|4300|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||11/12|ENST00000433728.5:c.*529+1430G>A|||||||rs9625533||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||8/9|ENST00000434810.5:c.659+1430G>A|||||||rs9625533||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||12/13|ENST00000448511.5:c.*853+1430G>A|||||||rs9625533||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.264-3387G>A|||||||rs9625533||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||9/10|ENST00000464581.6:c.801+1430G>A|||||||rs9625533||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000472807|retained_intron||||||||||rs9625533|3192|-1||HGNC|HGNC:16627|2||||||||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||||||||||rs9625533|4342|-1||HGNC|HGNC:16627|3||||||||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||9/10|ENST00000648295.1:n.1013+1430G>A|||||||rs9625533||-1||HGNC|HGNC:16627|||||||||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||10/11|ENST00000649563.1:c.798+1430G>A|||||||rs9625533||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||14/15|ENST00000650281.1:c.1461+1430G>A|||||||rs9625533||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||11/12|ENST00000711048.1:c.*196+1430G>A|||||||rs9625533||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||C|C||1||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||14/15|NM_001005735.2:c.1590+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||14/15|NM_001257387.2:c.798+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||12/13|NM_001349956.2:c.1260+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||13/14|NM_007194.4:c.1461+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||12/13|NM_145862.2:c.1374+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||C|C|OK|||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||9/10|XM_006724114.4:c.981+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||9/10|XM_006724116.3:c.918+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||14/15|XM_011529839.3:c.1620+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||13/14|XM_011529840.4:c.1533+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||12/13|XM_011529842.3:c.1290+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||||||||||rs9625533|4392|-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||12/13|XM_011529845.3:c.798+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||14/15|XM_017028560.2:c.1584+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||13/14|XM_024452148.2:c.1491+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||12/13|XM_024452149.2:c.1404+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||14/15|XM_047441104.1:c.1554+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||13/14|XM_047441105.1:c.1503+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||13/14|XM_047441106.1:c.1467+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||13/14|XM_047441107.1:c.1419+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||8/9|XM_047441108.1:c.894+1430G>A|||||||rs9625533||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||||||||||rs9625533|4304|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs9625533|4304|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs9625533|3184|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||||||||||rs9625533|4441|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28692602C>T|||||||||||||;SpliceAI=T|CHEK2|0.00|0.00|0.00|0.00|36|25|-4|25;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000472807,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87435;gnomADv4_1_AC_joint_XX=44565;gnomADv4_1_AC_joint_XY=42870;gnomADv4_1_AF_grpmax_joint=0.73858;gnomADv4_1_AF_joint=0.575215;gnomADv4_1_AF_joint_XX=0.573493;gnomADv4_1_AF_joint_XY=0.577016;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152004;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=26112;gnomADv4_1_nhomalt_joint_XX=13294;gnomADv4_1_nhomalt_joint_XY=12818;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28692831 chr22_28692831_C_G C G 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=4.837;CADD_Rawscore=0.440656;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||12/13|ENST00000348295.7:c.1374+1201G>C|||||||rs9620815||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||14/15|ENST00000382580.6:c.1590+1201G>C|||||||rs9620815||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||11/12|ENST00000402731.6:c.1260+1201G>C|||||||rs9620815||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||10/11|ENST00000403642.5:c.1188+1201G>C|||||||rs9620815||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||13/14|ENST00000404276.6:c.1461+1201G>C|||||||rs9620815||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||14/15|ENST00000405598.5:c.1461+1201G>C|||||||rs9620815||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||14/15|ENST00000416671.5:c.*951+1201G>C|||||||rs9620815||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||11/12|ENST00000417588.5:c.*758+1201G>C|||||||rs9620815||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||12/13|ENST00000425190.7:c.798+1201G>C|||||||rs9620815||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs9620815|4071|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||11/12|ENST00000433728.5:c.*529+1201G>C|||||||rs9620815||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||8/9|ENST00000434810.5:c.659+1201G>C|||||||rs9620815||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||12/13|ENST00000448511.5:c.*853+1201G>C|||||||rs9620815||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.264-3616G>C|||||||rs9620815||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||9/10|ENST00000464581.6:c.801+1201G>C|||||||rs9620815||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000472807|retained_intron||||||||||rs9620815|3421|-1||HGNC|HGNC:16627|2||||||||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||||||||||rs9620815|4113|-1||HGNC|HGNC:16627|3||||||||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||9/10|ENST00000648295.1:n.1013+1201G>C|||||||rs9620815||-1||HGNC|HGNC:16627|||||||||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||10/11|ENST00000649563.1:c.798+1201G>C|||||||rs9620815||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||14/15|ENST00000650281.1:c.1461+1201G>C|||||||rs9620815||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||11/12|ENST00000711048.1:c.*196+1201G>C|||||||rs9620815||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||C|C||1||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||14/15|NM_001005735.2:c.1590+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||14/15|NM_001257387.2:c.798+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||12/13|NM_001349956.2:c.1260+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||13/14|NM_007194.4:c.1461+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||12/13|NM_145862.2:c.1374+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||C|C|OK|||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||9/10|XM_006724114.4:c.981+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||9/10|XM_006724116.3:c.918+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||14/15|XM_011529839.3:c.1620+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||13/14|XM_011529840.4:c.1533+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||12/13|XM_011529842.3:c.1290+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||||||||||rs9620815|4163|-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||12/13|XM_011529845.3:c.798+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||14/15|XM_017028560.2:c.1584+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||13/14|XM_024452148.2:c.1491+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||12/13|XM_024452149.2:c.1404+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||14/15|XM_047441104.1:c.1554+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||13/14|XM_047441105.1:c.1503+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||13/14|XM_047441106.1:c.1467+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||13/14|XM_047441107.1:c.1419+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||8/9|XM_047441108.1:c.894+1201G>C|||||||rs9620815||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||||||||||rs9620815|4075|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs9620815|4075|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs9620815|2955|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||||||||||rs9620815|4212|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28692831C>G|||||||||||||;SpliceAI=G|CHEK2|0.00|0.00|0.00|0.00|-17|-35|39|38;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000472807,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88155;gnomADv4_1_AC_joint_XX=45002;gnomADv4_1_AC_joint_XY=43153;gnomADv4_1_AF_grpmax_joint=0.734296;gnomADv4_1_AF_joint=0.583468;gnomADv4_1_AF_joint_XX=0.582264;gnomADv4_1_AF_joint_XY=0.584729;gnomADv4_1_AN_grpmax_joint=4776;gnomADv4_1_AN_joint=151088;gnomADv4_1_AN_joint_XX=77288;gnomADv4_1_AN_joint_XY=73800;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=26331;gnomADv4_1_nhomalt_joint_XX=13450;gnomADv4_1_nhomalt_joint_XY=12881;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28693107 chr22_28693107_C_A C A 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.661;CADD_Rawscore=0.335115;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||12/13|ENST00000348295.7:c.1374+925G>T|||||||rs1807477||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||14/15|ENST00000382580.6:c.1590+925G>T|||||||rs1807477||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||11/12|ENST00000402731.6:c.1260+925G>T|||||||rs1807477||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||10/11|ENST00000403642.5:c.1188+925G>T|||||||rs1807477||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||13/14|ENST00000404276.6:c.1461+925G>T|||||||rs1807477||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||14/15|ENST00000405598.5:c.1461+925G>T|||||||rs1807477||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||14/15|ENST00000416671.5:c.*951+925G>T|||||||rs1807477||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||11/12|ENST00000417588.5:c.*758+925G>T|||||||rs1807477||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||12/13|ENST00000425190.7:c.798+925G>T|||||||rs1807477||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs1807477|3795|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||11/12|ENST00000433728.5:c.*529+925G>T|||||||rs1807477||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||8/9|ENST00000434810.5:c.659+925G>T|||||||rs1807477||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||12/13|ENST00000448511.5:c.*853+925G>T|||||||rs1807477||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.264-3892G>T|||||||rs1807477||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||9/10|ENST00000464581.6:c.801+925G>T|||||||rs1807477||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000472807|retained_intron||||||||||rs1807477|3697|-1||HGNC|HGNC:16627|2||||||||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||||||||||rs1807477|3837|-1||HGNC|HGNC:16627|3||||||||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||9/10|ENST00000648295.1:n.1013+925G>T|||||||rs1807477||-1||HGNC|HGNC:16627|||||||||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||10/11|ENST00000649563.1:c.798+925G>T|||||||rs1807477||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||14/15|ENST00000650281.1:c.1461+925G>T|||||||rs1807477||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||11/12|ENST00000711048.1:c.*196+925G>T|||||||rs1807477||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||C|C||1||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||14/15|NM_001005735.2:c.1590+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||14/15|NM_001257387.2:c.798+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||12/13|NM_001349956.2:c.1260+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||13/14|NM_007194.4:c.1461+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||12/13|NM_145862.2:c.1374+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||C|C|OK|||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||9/10|XM_006724114.4:c.981+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||9/10|XM_006724116.3:c.918+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||14/15|XM_011529839.3:c.1620+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||13/14|XM_011529840.4:c.1533+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||12/13|XM_011529842.3:c.1290+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||||||||||rs1807477|3887|-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||12/13|XM_011529845.3:c.798+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||14/15|XM_017028560.2:c.1584+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||13/14|XM_024452148.2:c.1491+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||12/13|XM_024452149.2:c.1404+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||14/15|XM_047441104.1:c.1554+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||13/14|XM_047441105.1:c.1503+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||13/14|XM_047441106.1:c.1467+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||13/14|XM_047441107.1:c.1419+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||8/9|XM_047441108.1:c.894+925G>T|||||||rs1807477||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||||||||||rs1807477|3799|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs1807477|3799|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs1807477|2679|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||||||||||rs1807477|3936|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28693107C>A|||||||||||||;SpliceAI=A|CHEK2|0.02|0.00|0.00|0.00|-26|34|-12|3;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000472807,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91642;gnomADv4_1_AC_joint_XX=46802;gnomADv4_1_AC_joint_XY=44840;gnomADv4_1_AF_grpmax_joint=0.736908;gnomADv4_1_AF_joint=0.602963;gnomADv4_1_AF_joint_XX=0.602249;gnomADv4_1_AF_joint_XY=0.603711;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28018;gnomADv4_1_nhomalt_joint_XX=14320;gnomADv4_1_nhomalt_joint_XY=13698;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28694375 chr22_28694375_G_A G A 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.063;CADD_Rawscore=-0.736704;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||11/13|ENST00000348295.7:c.1289-258C>T|||||||rs5762747||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||13/15|ENST00000382580.6:c.1505-258C>T|||||||rs5762747||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||10/12|ENST00000402731.6:c.1175-258C>T|||||||rs5762747||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||9/11|ENST00000403642.5:c.1103-258C>T|||||||rs5762747||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||12/14|ENST00000404276.6:c.1376-258C>T|||||||rs5762747||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||13/15|ENST00000405598.5:c.1376-258C>T|||||||rs5762747||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||13/15|ENST00000416671.5:c.*866-258C>T|||||||rs5762747||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||10/12|ENST00000417588.5:c.*673-258C>T|||||||rs5762747||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||11/13|ENST00000425190.7:c.713-258C>T|||||||rs5762747||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs5762747|2527|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||10/12|ENST00000433728.5:c.*444-258C>T|||||||rs5762747||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||7/9|ENST00000434810.5:c.574-258C>T|||||||rs5762747||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||11/13|ENST00000448511.5:c.*768-258C>T|||||||rs5762747||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.264-5160C>T|||||||rs5762747||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||8/10|ENST00000464581.6:c.716-258C>T|||||||rs5762747||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000472807|retained_intron||||||||||rs5762747|4965|-1||HGNC|HGNC:16627|2||||||||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||||||||||rs5762747|2569|-1||HGNC|HGNC:16627|3||||||||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||8/10|ENST00000648295.1:n.928-258C>T|||||||rs5762747||-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||9/11|ENST00000649563.1:c.713-258C>T|||||||rs5762747||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||13/15|ENST00000650281.1:c.1376-258C>T|||||||rs5762747||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||10/12|ENST00000711048.1:c.*111-258C>T|||||||rs5762747||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||13/15|NM_001005735.2:c.1505-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||13/15|NM_001257387.2:c.713-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||11/13|NM_001349956.2:c.1175-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||12/14|NM_007194.4:c.1376-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||11/13|NM_145862.2:c.1289-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||8/10|XM_006724114.4:c.896-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||8/10|XM_006724116.3:c.833-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||13/15|XM_011529839.3:c.1535-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||12/14|XM_011529840.4:c.1448-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||11/13|XM_011529842.3:c.1205-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||||||||||rs5762747|2619|-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||11/13|XM_011529845.3:c.713-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||13/15|XM_017028560.2:c.1499-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||12/14|XM_024452148.2:c.1406-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||11/13|XM_024452149.2:c.1319-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||13/15|XM_047441104.1:c.1469-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||12/14|XM_047441105.1:c.1418-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||12/14|XM_047441106.1:c.1382-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||12/14|XM_047441107.1:c.1334-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||7/9|XM_047441108.1:c.809-258C>T|||||||rs5762747||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||||||||||rs5762747|2531|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs5762747|2531|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs5762747|1411|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||||||||||rs5762747|2668|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28694375G>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.28694375G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=CHEK2:11200;ClinVar_Variation_ID=1260820;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|-15|3|43|-25;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000472807,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61464;gnomADv4_1_AC_joint_XX=31180;gnomADv4_1_AC_joint_XY=30284;gnomADv4_1_AF_grpmax_joint=0.622528;gnomADv4_1_AF_joint=0.404592;gnomADv4_1_AF_joint_XX=0.401349;gnomADv4_1_AF_joint_XY=0.407986;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=151916;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14275;gnomADv4_1_nhomalt_joint_XX=7204;gnomADv4_1_nhomalt_joint_XY=7071;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28694493 chr22_28694493_G_C G C 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=5.489;CADD_Rawscore=0.502494;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||11/13|ENST00000348295.7:c.1289-376C>G|||||||rs6005837||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||13/15|ENST00000382580.6:c.1505-376C>G|||||||rs6005837||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||10/12|ENST00000402731.6:c.1175-376C>G|||||||rs6005837||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||9/11|ENST00000403642.5:c.1103-376C>G|||||||rs6005837||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||12/14|ENST00000404276.6:c.1376-376C>G|||||||rs6005837||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||13/15|ENST00000405598.5:c.1376-376C>G|||||||rs6005837||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||13/15|ENST00000416671.5:c.*866-376C>G|||||||rs6005837||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||10/12|ENST00000417588.5:c.*673-376C>G|||||||rs6005837||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||11/13|ENST00000425190.7:c.713-376C>G|||||||rs6005837||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs6005837|2409|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||10/12|ENST00000433728.5:c.*444-376C>G|||||||rs6005837||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||7/9|ENST00000434810.5:c.574-376C>G|||||||rs6005837||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||11/13|ENST00000448511.5:c.*768-376C>G|||||||rs6005837||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.264-5278C>G|||||||rs6005837||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||8/10|ENST00000464581.6:c.716-376C>G|||||||rs6005837||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||||||||||rs6005837|2451|-1||HGNC|HGNC:16627|3||||||||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||8/10|ENST00000648295.1:n.928-376C>G|||||||rs6005837||-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||9/11|ENST00000649563.1:c.713-376C>G|||||||rs6005837||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||13/15|ENST00000650281.1:c.1376-376C>G|||||||rs6005837||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||10/12|ENST00000711048.1:c.*111-376C>G|||||||rs6005837||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||13/15|NM_001005735.2:c.1505-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||13/15|NM_001257387.2:c.713-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||11/13|NM_001349956.2:c.1175-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||12/14|NM_007194.4:c.1376-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||11/13|NM_145862.2:c.1289-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||8/10|XM_006724114.4:c.896-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||8/10|XM_006724116.3:c.833-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||13/15|XM_011529839.3:c.1535-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||12/14|XM_011529840.4:c.1448-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||11/13|XM_011529842.3:c.1205-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||||||||||rs6005837|2501|-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||11/13|XM_011529845.3:c.713-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||13/15|XM_017028560.2:c.1499-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||12/14|XM_024452148.2:c.1406-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||11/13|XM_024452149.2:c.1319-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||13/15|XM_047441104.1:c.1469-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||12/14|XM_047441105.1:c.1418-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||12/14|XM_047441106.1:c.1382-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||12/14|XM_047441107.1:c.1334-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||7/9|XM_047441108.1:c.809-376C>G|||||||rs6005837||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||||||||||rs6005837|2413|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs6005837|2413|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs6005837|1293|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||||||||||rs6005837|2550|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28694493G>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.28694493G>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=CHEK2:11200;ClinVar_Variation_ID=1266207;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|13|-31|0|-5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=106408;gnomADv4_1_AC_joint_XX=54296;gnomADv4_1_AC_joint_XY=52112;gnomADv4_1_AF_grpmax_joint=0.804474;gnomADv4_1_AF_joint=0.699611;gnomADv4_1_AF_joint_XX=0.698233;gnomADv4_1_AF_joint_XY=0.701052;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=37396;gnomADv4_1_nhomalt_joint_XX=19010;gnomADv4_1_nhomalt_joint_XY=18386;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28694902 chr22_28694902_G_A G A 28 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=28;CADD_PHREDscore=0.626;CADD_Rawscore=-0.136995;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||11/13|ENST00000348295.7:c.1288+225C>T|||||||rs5762748||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||13/15|ENST00000382580.6:c.1504+225C>T|||||||rs5762748||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||10/12|ENST00000402731.6:c.1174+225C>T|||||||rs5762748||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||9/11|ENST00000403642.5:c.1102+225C>T|||||||rs5762748||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||12/14|ENST00000404276.6:c.1375+225C>T|||||||rs5762748||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||13/15|ENST00000405598.5:c.1375+225C>T|||||||rs5762748||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||13/15|ENST00000416671.5:c.*865+225C>T|||||||rs5762748||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||10/12|ENST00000417588.5:c.*672+225C>T|||||||rs5762748||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||11/13|ENST00000425190.7:c.712+225C>T|||||||rs5762748||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs5762748|2000|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||10/12|ENST00000433728.5:c.*443+225C>T|||||||rs5762748||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||7/9|ENST00000434810.5:c.573+225C>T|||||||rs5762748||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs5762748|4862|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||11/13|ENST00000448511.5:c.*767+225C>T|||||||rs5762748||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.263+4936C>T|||||||rs5762748||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||8/10|ENST00000464581.6:c.715+225C>T|||||||rs5762748||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||||||||||rs5762748|2042|-1||HGNC|HGNC:16627|3||||||||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||8/10|ENST00000648295.1:n.927+225C>T|||||||rs5762748||-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||9/11|ENST00000649563.1:c.712+225C>T|||||||rs5762748||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||13/15|ENST00000650281.1:c.1375+225C>T|||||||rs5762748||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||10/12|ENST00000711048.1:c.*110+225C>T|||||||rs5762748||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||13/15|NM_001005735.2:c.1504+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||13/15|NM_001257387.2:c.712+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||11/13|NM_001349956.2:c.1174+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||12/14|NM_007194.4:c.1375+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||11/13|NM_145862.2:c.1288+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||8/10|XM_006724114.4:c.895+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||8/10|XM_006724116.3:c.832+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||13/15|XM_011529839.3:c.1534+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||12/14|XM_011529840.4:c.1447+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||11/13|XM_011529842.3:c.1204+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||||||||||rs5762748|2092|-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||11/13|XM_011529845.3:c.712+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||13/15|XM_017028560.2:c.1498+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||12/14|XM_024452148.2:c.1405+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||11/13|XM_024452149.2:c.1318+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||13/15|XM_047441104.1:c.1468+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||12/14|XM_047441105.1:c.1417+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||12/14|XM_047441106.1:c.1381+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||12/14|XM_047441107.1:c.1333+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||7/9|XM_047441108.1:c.808+225C>T|||||||rs5762748||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||||||||||rs5762748|2004|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs5762748|2004|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs5762748|884|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||||||||||rs5762748|2141|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28694902G>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.28694902G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=CHEK2:11200;ClinVar_Variation_ID=1241116;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|15|14|15|-22;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10082;gnomADv4_1_AC_joint_XX=4947;gnomADv4_1_AC_joint_XY=5135;gnomADv4_1_AF_grpmax_joint=0.145937;gnomADv4_1_AF_joint=0.0662226;gnomADv4_1_AF_joint_XX=0.0635812;gnomADv4_1_AF_joint_XY=0.0689836;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152244;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=509;gnomADv4_1_nhomalt_joint_XX=223;gnomADv4_1_nhomalt_joint_XY=286;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28695049 chr22_28695049_G_C G C 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=10.55;CADD_Rawscore=1.01881;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||11/13|ENST00000348295.7:c.1288+78C>G|||||||rs5762749||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||13/15|ENST00000382580.6:c.1504+78C>G|||||||rs5762749||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||10/12|ENST00000402731.6:c.1174+78C>G|||||||rs5762749||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||9/11|ENST00000403642.5:c.1102+78C>G|||||||rs5762749||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||12/14|ENST00000404276.6:c.1375+78C>G|||||||rs5762749||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||13/15|ENST00000405598.5:c.1375+78C>G|||||||rs5762749||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||13/15|ENST00000416671.5:c.*865+78C>G|||||||rs5762749||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||10/12|ENST00000417588.5:c.*672+78C>G|||||||rs5762749||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||11/13|ENST00000425190.7:c.712+78C>G|||||||rs5762749||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs5762749|1853|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||10/12|ENST00000433728.5:c.*443+78C>G|||||||rs5762749||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||7/9|ENST00000434810.5:c.573+78C>G|||||||rs5762749||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs5762749|4715|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||11/13|ENST00000448511.5:c.*767+78C>G|||||||rs5762749||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.263+4789C>G|||||||rs5762749||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||8/10|ENST00000464581.6:c.715+78C>G|||||||rs5762749||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||||||||||rs5762749|1895|-1||HGNC|HGNC:16627|3||||||||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||8/10|ENST00000648295.1:n.927+78C>G|||||||rs5762749||-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||9/11|ENST00000649563.1:c.712+78C>G|||||||rs5762749||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||13/15|ENST00000650281.1:c.1375+78C>G|||||||rs5762749||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||10/12|ENST00000711048.1:c.*110+78C>G|||||||rs5762749||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||13/15|NM_001005735.2:c.1504+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||13/15|NM_001257387.2:c.712+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||11/13|NM_001349956.2:c.1174+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||12/14|NM_007194.4:c.1375+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||11/13|NM_145862.2:c.1288+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||8/10|XM_006724114.4:c.895+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||8/10|XM_006724116.3:c.832+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||13/15|XM_011529839.3:c.1534+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||12/14|XM_011529840.4:c.1447+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||11/13|XM_011529842.3:c.1204+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||||||||||rs5762749|1945|-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||11/13|XM_011529845.3:c.712+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||13/15|XM_017028560.2:c.1498+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||12/14|XM_024452148.2:c.1405+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||11/13|XM_024452149.2:c.1318+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||13/15|XM_047441104.1:c.1468+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||12/14|XM_047441105.1:c.1417+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||12/14|XM_047441106.1:c.1381+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||12/14|XM_047441107.1:c.1333+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||7/9|XM_047441108.1:c.808+78C>G|||||||rs5762749||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||||||||||rs5762749|1857|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs5762749|1857|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs5762749|737|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||||||||||rs5762749|1994|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28695049G>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.28695049G>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=CHEK2:11200;ClinVar_Variation_ID=1254473;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|-47|3|48|-41;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=551967;gnomADv4_1_AC_joint_XX=260231;gnomADv4_1_AC_joint_XY=291736;gnomADv4_1_AF_grpmax_joint=0.73713;gnomADv4_1_AF_joint=0.641418;gnomADv4_1_AF_joint_XX=0.635649;gnomADv4_1_AF_joint_XY=0.646653;gnomADv4_1_AN_grpmax_joint=72884;gnomADv4_1_AN_joint=860542;gnomADv4_1_AN_joint_XX=409394;gnomADv4_1_AN_joint_XY=451148;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=178783;gnomADv4_1_nhomalt_joint_XX=83451;gnomADv4_1_nhomalt_joint_XY=95332;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28696193 chr22_28696193_C_T C T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.651;CADD_Rawscore=0.239685;CSQ=T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||9/13|ENST00000348295.7:c.1009-320G>A|||||||rs17507045||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||11/15|ENST00000382580.6:c.1225-320G>A|||||||rs17507045||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||8/12|ENST00000402731.6:c.895-320G>A|||||||rs17507045||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||7/11|ENST00000403642.5:c.823-320G>A|||||||rs17507045||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||10/14|ENST00000404276.6:c.1096-320G>A|||||||rs17507045||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||11/15|ENST00000405598.5:c.1096-320G>A|||||||rs17507045||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||11/15|ENST00000416671.5:c.*586-320G>A|||||||rs17507045||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||8/12|ENST00000417588.5:c.*393-320G>A|||||||rs17507045||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||9/13|ENST00000425190.7:c.433-320G>A|||||||rs17507045||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs17507045|709|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||8/12|ENST00000433728.5:c.*164-320G>A|||||||rs17507045||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||5/9|ENST00000434810.5:c.327-320G>A|||||||rs17507045||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs17507045|3571|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||9/13|ENST00000448511.5:c.*488-320G>A|||||||rs17507045||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.263+3645G>A|||||||rs17507045||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||6/10|ENST00000464581.6:c.436-320G>A|||||||rs17507045||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||||||||||rs17507045|751|-1||HGNC|HGNC:16627|3||||||||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||6/10|ENST00000648295.1:n.648-320G>A|||||||rs17507045||-1||HGNC|HGNC:16627|||||||||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||7/11|ENST00000649563.1:c.433-320G>A|||||||rs17507045||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||11/15|ENST00000650281.1:c.1096-320G>A|||||||rs17507045||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||9/12|ENST00000711048.1:c.1009-951G>A|||||||rs17507045||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||C|C||1||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||11/15|NM_001005735.2:c.1225-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||11/15|NM_001257387.2:c.433-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||9/13|NM_001349956.2:c.895-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||10/14|NM_007194.4:c.1096-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||9/13|NM_145862.2:c.1009-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||C|C|OK|||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||6/10|XM_006724114.4:c.616-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||6/10|XM_006724116.3:c.553-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||11/15|XM_011529839.3:c.1255-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||10/14|XM_011529840.4:c.1168-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||9/13|XM_011529842.3:c.925-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||||||||||rs17507045|801|-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||9/13|XM_011529845.3:c.433-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||11/15|XM_017028560.2:c.1219-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||10/14|XM_024452148.2:c.1126-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||9/13|XM_024452149.2:c.1039-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||11/15|XM_047441104.1:c.1189-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||10/14|XM_047441105.1:c.1138-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||10/14|XM_047441106.1:c.1102-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||10/14|XM_047441107.1:c.1054-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||5/9|XM_047441108.1:c.529-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||||||||||rs17507045|713|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs17507045|713|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||9/9|XR_937806.3:n.1177-320G>A|||||||rs17507045||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||||||||||rs17507045|850|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28696193C>T|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.28696193C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=CHEK2:11200;ClinVar_Variation_ID=1289562;SpliceAI=T|CHEK2|0.00|0.00|0.00|0.00|42|-8|-38|35;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12293;gnomADv4_1_AC_joint_XX=6121;gnomADv4_1_AC_joint_XY=6172;gnomADv4_1_AF_grpmax_joint=0.148355;gnomADv4_1_AF_joint=0.0808335;gnomADv4_1_AF_joint_XX=0.078751;gnomADv4_1_AF_joint_XY=0.0830105;gnomADv4_1_AN_grpmax_joint=15254;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=608;gnomADv4_1_nhomalt_joint_XX=278;gnomADv4_1_nhomalt_joint_XY=330;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28696651 chr22_28696651_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.433;CADD_Rawscore=-0.229095;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||9/13|ENST00000348295.7:c.1009-778T>C|||||||rs5752771||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||11/15|ENST00000382580.6:c.1224+250T>C|||||||rs5752771||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||8/12|ENST00000402731.6:c.894+250T>C|||||||rs5752771||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||7/11|ENST00000403642.5:c.822+250T>C|||||||rs5752771||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||10/14|ENST00000404276.6:c.1095+250T>C|||||||rs5752771||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||11/15|ENST00000405598.5:c.1095+250T>C|||||||rs5752771||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||11/15|ENST00000416671.5:c.*585+250T>C|||||||rs5752771||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||8/12|ENST00000417588.5:c.*392+250T>C|||||||rs5752771||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||9/13|ENST00000425190.7:c.432+250T>C|||||||rs5752771||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs5752771|251|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||8/12|ENST00000433728.5:c.*163+250T>C|||||||rs5752771||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||5/9|ENST00000434810.5:c.326+250T>C|||||||rs5752771||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs5752771|3113|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||9/13|ENST00000448511.5:c.*487+250T>C|||||||rs5752771||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.263+3187T>C|||||||rs5752771||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||6/10|ENST00000464581.6:c.435+250T>C|||||||rs5752771||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||||||||||rs5752771|293|-1||HGNC|HGNC:16627|3||||||||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||6/10|ENST00000648295.1:n.647+250T>C|||||||rs5752771||-1||HGNC|HGNC:16627|||||||||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||7/11|ENST00000649563.1:c.432+250T>C|||||||rs5752771||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||11/15|ENST00000650281.1:c.1095+250T>C|||||||rs5752771||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||9/12|ENST00000711048.1:c.1009-1409T>C|||||||rs5752771||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||11/15|NM_001005735.2:c.1224+250T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||11/15|NM_001257387.2:c.432+250T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||9/13|NM_001349956.2:c.894+250T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||10/14|NM_007194.4:c.1095+250T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||9/13|NM_145862.2:c.1009-778T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||6/10|XM_006724114.4:c.615+250T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||6/10|XM_006724116.3:c.552+250T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||11/15|XM_011529839.3:c.1254+250T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||10/14|XM_011529840.4:c.1168-778T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||9/13|XM_011529842.3:c.924+250T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||||||||||rs5752771|343|-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||9/13|XM_011529845.3:c.432+250T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||11/15|XM_017028560.2:c.1218+250T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||10/14|XM_024452148.2:c.1125+250T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||9/13|XM_024452149.2:c.1039-778T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||11/15|XM_047441104.1:c.1188+250T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||10/14|XM_047441105.1:c.1138-778T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||10/14|XM_047441106.1:c.1102-778T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||10/14|XM_047441107.1:c.1053+250T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||5/9|XM_047441108.1:c.529-778T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||||||||||rs5752771|255|-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs5752771|255|-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||9/9|XR_937806.3:n.1177-778T>C|||||||rs5752771||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||||||||||rs5752771|392|-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28696651A>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.28696651A>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=CHEK2:11200;ClinVar_Variation_ID=1272133;SpliceAI=G|CHEK2|0.00|0.00|0.00|0.00|9|-27|-43|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152220;gnomADv4_1_AC_joint_XX=77796;gnomADv4_1_AC_joint_XY=74424;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999527;gnomADv4_1_AF_joint_XX=0.999537;gnomADv4_1_AF_joint_XY=0.999517;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152292;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76074;gnomADv4_1_nhomalt_joint_XX=38880;gnomADv4_1_nhomalt_joint_XY=37194;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28697251 chr22_28697251_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.229;CADD_Rawscore=-0.391863;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||9/13|ENST00000348295.7:c.1009-1378T>C|||||||rs4820790||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||10/15|ENST00000382580.6:c.1138-264T>C|||||||rs4820790||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||7/12|ENST00000402731.6:c.808-264T>C|||||||rs4820790||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||6/11|ENST00000403642.5:c.736-264T>C|||||||rs4820790||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||9/14|ENST00000404276.6:c.1009-264T>C|||||||rs4820790||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||10/15|ENST00000405598.5:c.1009-264T>C|||||||rs4820790||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||10/15|ENST00000416671.5:c.*499-264T>C|||||||rs4820790||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||7/12|ENST00000417588.5:c.*306-264T>C|||||||rs4820790||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||8/13|ENST00000425190.7:c.346-264T>C|||||||rs4820790||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||9/9|ENST00000433028.6:c.*734-264T>C|||||||rs4820790||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||7/12|ENST00000433728.5:c.*77-264T>C|||||||rs4820790||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||4/9|ENST00000434810.5:c.240-264T>C|||||||rs4820790||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs4820790|2513|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||8/13|ENST00000448511.5:c.*401-264T>C|||||||rs4820790||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.263+2587T>C|||||||rs4820790||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||5/10|ENST00000464581.6:c.349-264T>C|||||||rs4820790||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||4/4|ENST00000491919.5:n.566-264T>C|||||||rs4820790||-1||HGNC|HGNC:16627|3||||||||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||5/10|ENST00000648295.1:n.561-264T>C|||||||rs4820790||-1||HGNC|HGNC:16627|||||||||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||6/11|ENST00000649563.1:c.346-264T>C|||||||rs4820790||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||10/15|ENST00000650281.1:c.1009-264T>C|||||||rs4820790||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||9/12|ENST00000711048.1:c.1009-2009T>C|||||||rs4820790||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||10/15|NM_001005735.2:c.1138-264T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||10/15|NM_001257387.2:c.346-264T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||8/13|NM_001349956.2:c.808-264T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||9/14|NM_007194.4:c.1009-264T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||9/13|NM_145862.2:c.1009-1378T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||5/10|XM_006724114.4:c.529-264T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||5/10|XM_006724116.3:c.466-264T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||10/15|XM_011529839.3:c.1168-264T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||10/14|XM_011529840.4:c.1168-1378T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||8/13|XM_011529842.3:c.838-264T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||10/10|XM_011529844.3:c.1168-122T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||8/13|XM_011529845.3:c.346-264T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||10/15|XM_017028560.2:c.1132-264T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||9/14|XM_024452148.2:c.1039-264T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||9/13|XM_024452149.2:c.1039-1378T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||10/15|XM_047441104.1:c.1102-264T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||10/14|XM_047441105.1:c.1138-1378T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||10/14|XM_047441106.1:c.1102-1378T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||9/14|XM_047441107.1:c.967-264T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||5/9|XM_047441108.1:c.529-1378T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||9/9|XR_007067954.1:n.1176-264T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||8/8|XR_007067955.1:n.1019-264T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||9/9|XR_937806.3:n.1177-1378T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||9/9|XR_937807.3:n.1177-122T>C|||||||rs4820790||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28697251A>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.28697251A>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=CHEK2:11200;ClinVar_Variation_ID=1180057;SpliceAI=G|CHEK2|0.00|0.00|0.00|0.00|-29|-40|-39|0;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=150090;gnomADv4_1_AC_joint_XX=76679;gnomADv4_1_AC_joint_XY=73411;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.98567;gnomADv4_1_AF_joint_XX=0.985363;gnomADv4_1_AF_joint_XY=0.985991;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152272;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=74009;gnomADv4_1_nhomalt_joint_XX=37803;gnomADv4_1_nhomalt_joint_XY=36206;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28697765 chr22_28697765_G_A G A 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.377;CADD_Rawscore=0.065563;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||9/13|ENST00000348295.7:c.1009-1892C>T|||||||rs5752772||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||10/15|ENST00000382580.6:c.1138-778C>T|||||||rs5752772||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||7/12|ENST00000402731.6:c.808-778C>T|||||||rs5752772||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||6/11|ENST00000403642.5:c.736-778C>T|||||||rs5752772||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||9/14|ENST00000404276.6:c.1009-778C>T|||||||rs5752772||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||10/15|ENST00000405598.5:c.1009-778C>T|||||||rs5752772||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||10/15|ENST00000416671.5:c.*499-778C>T|||||||rs5752772||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||7/12|ENST00000417588.5:c.*306-778C>T|||||||rs5752772||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||8/13|ENST00000425190.7:c.346-778C>T|||||||rs5752772||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||9/9|ENST00000433028.6:c.*734-778C>T|||||||rs5752772||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||7/12|ENST00000433728.5:c.*77-778C>T|||||||rs5752772||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||4/9|ENST00000434810.5:c.240-778C>T|||||||rs5752772||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs5752772|1999|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||8/13|ENST00000448511.5:c.*401-778C>T|||||||rs5752772||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.263+2073C>T|||||||rs5752772||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||5/10|ENST00000464581.6:c.349-778C>T|||||||rs5752772||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||4/4|ENST00000491919.5:n.566-778C>T|||||||rs5752772||-1||HGNC|HGNC:16627|3||||||||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||5/10|ENST00000648295.1:n.561-778C>T|||||||rs5752772||-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||6/11|ENST00000649563.1:c.346-778C>T|||||||rs5752772||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||10/15|ENST00000650281.1:c.1009-778C>T|||||||rs5752772||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||9/12|ENST00000711048.1:c.1008+2073C>T|||||||rs5752772||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||10/15|NM_001005735.2:c.1138-778C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||10/15|NM_001257387.2:c.346-778C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||8/13|NM_001349956.2:c.808-778C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||9/14|NM_007194.4:c.1009-778C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||9/13|NM_145862.2:c.1009-1892C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||5/10|XM_006724114.4:c.529-778C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||5/10|XM_006724116.3:c.466-778C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||10/15|XM_011529839.3:c.1168-778C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||10/14|XM_011529840.4:c.1168-1892C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||8/13|XM_011529842.3:c.838-778C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||10/10|XM_011529844.3:c.1168-636C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||8/13|XM_011529845.3:c.346-778C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||10/15|XM_017028560.2:c.1132-778C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||9/14|XM_024452148.2:c.1039-778C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||9/13|XM_024452149.2:c.1039-1892C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||10/15|XM_047441104.1:c.1102-778C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||10/14|XM_047441105.1:c.1138-1892C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||10/14|XM_047441106.1:c.1102-1892C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||9/14|XM_047441107.1:c.967-778C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||5/9|XM_047441108.1:c.529-1892C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||9/9|XR_007067954.1:n.1176-778C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||8/8|XR_007067955.1:n.1019-778C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||9/9|XR_937806.3:n.1177-1892C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||9/9|XR_937807.3:n.1177-636C>T|||||||rs5752772||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28697765G>A|||||||||||||;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|-21|-38|10|-22;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58962;gnomADv4_1_AC_joint_XX=30345;gnomADv4_1_AC_joint_XY=28617;gnomADv4_1_AF_grpmax_joint=0.507839;gnomADv4_1_AF_joint=0.389373;gnomADv4_1_AF_joint_XX=0.391488;gnomADv4_1_AF_joint_XY=0.387156;gnomADv4_1_AN_grpmax_joint=67862;gnomADv4_1_AN_joint=151428;gnomADv4_1_AN_joint_XX=77512;gnomADv4_1_AN_joint_XY=73916;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13189;gnomADv4_1_nhomalt_joint_XX=6836;gnomADv4_1_nhomalt_joint_XY=6353;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28698096 chr22_28698096_T_A T A 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.029;CADD_Rawscore=-0.954823;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||9/13|ENST00000348295.7:c.1008+1742A>T|||||||rs5762750||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||10/15|ENST00000382580.6:c.1138-1109A>T|||||||rs5762750||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||7/12|ENST00000402731.6:c.808-1109A>T|||||||rs5762750||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||6/11|ENST00000403642.5:c.736-1109A>T|||||||rs5762750||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||9/14|ENST00000404276.6:c.1009-1109A>T|||||||rs5762750||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||10/15|ENST00000405598.5:c.1009-1109A>T|||||||rs5762750||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||10/15|ENST00000416671.5:c.*499-1109A>T|||||||rs5762750||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||7/12|ENST00000417588.5:c.*306-1109A>T|||||||rs5762750||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||8/13|ENST00000425190.7:c.346-1109A>T|||||||rs5762750||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||9/9|ENST00000433028.6:c.*734-1109A>T|||||||rs5762750||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||7/12|ENST00000433728.5:c.*77-1109A>T|||||||rs5762750||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||4/9|ENST00000434810.5:c.240-1109A>T|||||||rs5762750||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs5762750|1668|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||8/13|ENST00000448511.5:c.*401-1109A>T|||||||rs5762750||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.263+1742A>T|||||||rs5762750||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||5/10|ENST00000464581.6:c.349-1109A>T|||||||rs5762750||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||4/4|ENST00000491919.5:n.566-1109A>T|||||||rs5762750||-1||HGNC|HGNC:16627|3||||||||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||5/10|ENST00000648295.1:n.561-1109A>T|||||||rs5762750||-1||HGNC|HGNC:16627|||||||||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||6/11|ENST00000649563.1:c.346-1109A>T|||||||rs5762750||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||10/15|ENST00000650281.1:c.1009-1109A>T|||||||rs5762750||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||9/12|ENST00000711048.1:c.1008+1742A>T|||||||rs5762750||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||10/15|NM_001005735.2:c.1138-1109A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||10/15|NM_001257387.2:c.346-1109A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||8/13|NM_001349956.2:c.808-1109A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||9/14|NM_007194.4:c.1009-1109A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||9/13|NM_145862.2:c.1008+1742A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||5/10|XM_006724114.4:c.529-1109A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||5/10|XM_006724116.3:c.466-1109A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||10/15|XM_011529839.3:c.1168-1109A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||10/14|XM_011529840.4:c.1167+1742A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||8/13|XM_011529842.3:c.838-1109A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||10/10|XM_011529844.3:c.1168-967A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||8/13|XM_011529845.3:c.346-1109A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||10/15|XM_017028560.2:c.1132-1109A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||9/14|XM_024452148.2:c.1039-1109A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||9/13|XM_024452149.2:c.1038+1742A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||10/15|XM_047441104.1:c.1102-1109A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||10/14|XM_047441105.1:c.1137+1742A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||10/14|XM_047441106.1:c.1101+1742A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||9/14|XM_047441107.1:c.967-1109A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||5/9|XM_047441108.1:c.528+1742A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||9/9|XR_007067954.1:n.1176-1109A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||8/8|XR_007067955.1:n.1019-1109A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||9/9|XR_937806.3:n.1176+1742A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||9/9|XR_937807.3:n.1177-967A>T|||||||rs5762750||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28698096T>A|||||||||||||;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|-44|7|2|-2;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84818;gnomADv4_1_AC_joint_XX=43133;gnomADv4_1_AC_joint_XY=41685;gnomADv4_1_AF_grpmax_joint=0.777129;gnomADv4_1_AF_joint=0.561062;gnomADv4_1_AF_joint_XX=0.557735;gnomADv4_1_AF_joint_XY=0.564547;gnomADv4_1_AN_grpmax_joint=4792;gnomADv4_1_AN_joint=151174;gnomADv4_1_AN_joint_XX=77336;gnomADv4_1_AN_joint_XY=73838;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=25797;gnomADv4_1_nhomalt_joint_XX=13028;gnomADv4_1_nhomalt_joint_XY=12769;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28698228 chr22_28698228_T_TAAAAAAAA T TAAAAAAAA 20 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=20;CADDIndel_PHREDscore=0.774;CADDIndel_Rawscore=-0.083574;CSQ=AAAAAAAA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||9/13|ENST00000348295.7:c.1008+1602_1008+1609dup|||||||rs398040472||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||10/15|ENST00000382580.6:c.1138-1249_1138-1242dup|||||||rs398040472||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||7/12|ENST00000402731.6:c.808-1249_808-1242dup|||||||rs398040472||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||6/11|ENST00000403642.5:c.736-1249_736-1242dup|||||||rs398040472||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||9/14|ENST00000404276.6:c.1009-1249_1009-1242dup|||||||rs398040472||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||10/15|ENST00000405598.5:c.1009-1249_1009-1242dup|||||||rs398040472||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||10/15|ENST00000416671.5:c.*499-1249_*499-1242dup|||||||rs398040472||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||7/12|ENST00000417588.5:c.*306-1249_*306-1242dup|||||||rs398040472||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||8/13|ENST00000425190.7:c.346-1249_346-1242dup|||||||rs398040472||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||9/9|ENST00000433028.6:c.*734-1249_*734-1242dup|||||||rs398040472||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||7/12|ENST00000433728.5:c.*77-1249_*77-1242dup|||||||rs398040472||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||4/9|ENST00000434810.5:c.240-1249_240-1242dup|||||||rs398040472||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs398040472|1535|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||8/13|ENST00000448511.5:c.*401-1249_*401-1242dup|||||||rs398040472||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.263+1602_263+1609dup|||||||rs398040472||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||5/10|ENST00000464581.6:c.349-1249_349-1242dup|||||||rs398040472||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||4/4|ENST00000491919.5:n.566-1249_566-1242dup|||||||rs398040472||-1||HGNC|HGNC:16627|3||||||||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||5/10|ENST00000648295.1:n.561-1249_561-1242dup|||||||rs398040472||-1||HGNC|HGNC:16627|||||||||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||6/11|ENST00000649563.1:c.346-1249_346-1242dup|||||||rs398040472||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||10/15|ENST00000650281.1:c.1009-1249_1009-1242dup|||||||rs398040472||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||9/12|ENST00000711048.1:c.1008+1602_1008+1609dup|||||||rs398040472||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||10/15|NM_001005735.2:c.1138-1249_1138-1242dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||10/15|NM_001257387.2:c.346-1249_346-1242dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||8/13|NM_001349956.2:c.808-1249_808-1242dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||9/14|NM_007194.4:c.1009-1249_1009-1242dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||9/13|NM_145862.2:c.1008+1602_1008+1609dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||5/10|XM_006724114.4:c.529-1249_529-1242dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||5/10|XM_006724116.3:c.466-1249_466-1242dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||10/15|XM_011529839.3:c.1168-1249_1168-1242dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||10/14|XM_011529840.4:c.1167+1602_1167+1609dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||8/13|XM_011529842.3:c.838-1249_838-1242dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||10/10|XM_011529844.3:c.1168-1107_1168-1100dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||8/13|XM_011529845.3:c.346-1249_346-1242dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||10/15|XM_017028560.2:c.1132-1249_1132-1242dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||9/14|XM_024452148.2:c.1039-1249_1039-1242dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||9/13|XM_024452149.2:c.1038+1602_1038+1609dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||10/15|XM_047441104.1:c.1102-1249_1102-1242dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||10/14|XM_047441105.1:c.1137+1602_1137+1609dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||10/14|XM_047441106.1:c.1101+1602_1101+1609dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||9/14|XM_047441107.1:c.967-1249_967-1242dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||5/9|XM_047441108.1:c.528+1602_528+1609dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||9/9|XR_007067954.1:n.1176-1249_1176-1242dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||8/8|XR_007067955.1:n.1019-1249_1019-1242dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||9/9|XR_937806.3:n.1176+1602_1176+1609dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||,AAAAAAAA|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||9/9|XR_937807.3:n.1177-1107_1177-1100dup|||||||rs398040472||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28698240_28698247dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA,AAAAAAAA;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10378;gnomADv4_1_AC_joint_XX=5591;gnomADv4_1_AC_joint_XY=4787;gnomADv4_1_AF_grpmax_joint=0.378479;gnomADv4_1_AF_joint=0.127726;gnomADv4_1_AF_joint_XX=0.125409;gnomADv4_1_AF_joint_XY=0.130543;gnomADv4_1_AN_grpmax_joint=2156;gnomADv4_1_AN_joint=81252;gnomADv4_1_AN_joint_XX=44582;gnomADv4_1_AN_joint_XY=36670;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1381;gnomADv4_1_nhomalt_joint_XX=709;gnomADv4_1_nhomalt_joint_XY=672;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28698364 chr22_28698364_C_T C T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.548;CADD_Rawscore=0.096465;CSQ=T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||9/13|ENST00000348295.7:c.1008+1474G>A|||||||rs12170705||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||10/15|ENST00000382580.6:c.1138-1377G>A|||||||rs12170705||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||7/12|ENST00000402731.6:c.808-1377G>A|||||||rs12170705||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||6/11|ENST00000403642.5:c.736-1377G>A|||||||rs12170705||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||9/14|ENST00000404276.6:c.1009-1377G>A|||||||rs12170705||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||10/15|ENST00000405598.5:c.1009-1377G>A|||||||rs12170705||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||10/15|ENST00000416671.5:c.*499-1377G>A|||||||rs12170705||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||7/12|ENST00000417588.5:c.*306-1377G>A|||||||rs12170705||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||8/13|ENST00000425190.7:c.346-1377G>A|||||||rs12170705||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||9/9|ENST00000433028.6:c.*734-1377G>A|||||||rs12170705||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||7/12|ENST00000433728.5:c.*77-1377G>A|||||||rs12170705||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||4/9|ENST00000434810.5:c.240-1377G>A|||||||rs12170705||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs12170705|1400|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||8/13|ENST00000448511.5:c.*401-1377G>A|||||||rs12170705||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.263+1474G>A|||||||rs12170705||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||5/10|ENST00000464581.6:c.349-1377G>A|||||||rs12170705||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||4/4|ENST00000491919.5:n.566-1377G>A|||||||rs12170705||-1||HGNC|HGNC:16627|3||||||||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||5/10|ENST00000648295.1:n.561-1377G>A|||||||rs12170705||-1||HGNC|HGNC:16627|||||||||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||6/11|ENST00000649563.1:c.346-1377G>A|||||||rs12170705||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||10/15|ENST00000650281.1:c.1009-1377G>A|||||||rs12170705||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||9/12|ENST00000711048.1:c.1008+1474G>A|||||||rs12170705||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||C|C||1||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||10/15|NM_001005735.2:c.1138-1377G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||10/15|NM_001257387.2:c.346-1377G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||8/13|NM_001349956.2:c.808-1377G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||9/14|NM_007194.4:c.1009-1377G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||9/13|NM_145862.2:c.1008+1474G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||C|C|OK|||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||5/10|XM_006724114.4:c.529-1377G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||5/10|XM_006724116.3:c.466-1377G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||10/15|XM_011529839.3:c.1168-1377G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||10/14|XM_011529840.4:c.1167+1474G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||8/13|XM_011529842.3:c.838-1377G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||10/10|XM_011529844.3:c.1168-1235G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||8/13|XM_011529845.3:c.346-1377G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||10/15|XM_017028560.2:c.1132-1377G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||9/14|XM_024452148.2:c.1039-1377G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||9/13|XM_024452149.2:c.1038+1474G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||10/15|XM_047441104.1:c.1102-1377G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||10/14|XM_047441105.1:c.1137+1474G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||10/14|XM_047441106.1:c.1101+1474G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||9/14|XM_047441107.1:c.967-1377G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||5/9|XM_047441108.1:c.528+1474G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||9/9|XR_007067954.1:n.1176-1377G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||8/8|XR_007067955.1:n.1019-1377G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||9/9|XR_937806.3:n.1176+1474G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||9/9|XR_937807.3:n.1177-1235G>A|||||||rs12170705||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28698364C>T|||||||||||||;SpliceAI=T|CHEK2|0.00|0.00|0.00|0.00|-2|27|4|-50;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55220;gnomADv4_1_AC_joint_XX=28375;gnomADv4_1_AC_joint_XY=26845;gnomADv4_1_AF_grpmax_joint=0.486419;gnomADv4_1_AF_joint=0.364051;gnomADv4_1_AF_joint_XX=0.365921;gnomADv4_1_AF_joint_XY=0.362095;gnomADv4_1_AN_grpmax_joint=67890;gnomADv4_1_AN_joint=151682;gnomADv4_1_AN_joint_XX=77544;gnomADv4_1_AN_joint_XY=74138;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11806;gnomADv4_1_nhomalt_joint_XX=6097;gnomADv4_1_nhomalt_joint_XY=5709;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28698388 chr22_28698388_T_G T G 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=3.373;CADD_Rawscore=0.309192;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||9/13|ENST00000348295.7:c.1008+1450A>C|||||||rs2014114||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||10/15|ENST00000382580.6:c.1138-1401A>C|||||||rs2014114||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||7/12|ENST00000402731.6:c.808-1401A>C|||||||rs2014114||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||6/11|ENST00000403642.5:c.736-1401A>C|||||||rs2014114||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||9/14|ENST00000404276.6:c.1009-1401A>C|||||||rs2014114||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||10/15|ENST00000405598.5:c.1009-1401A>C|||||||rs2014114||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||10/15|ENST00000416671.5:c.*499-1401A>C|||||||rs2014114||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||7/12|ENST00000417588.5:c.*306-1401A>C|||||||rs2014114||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||8/13|ENST00000425190.7:c.346-1401A>C|||||||rs2014114||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||9/9|ENST00000433028.6:c.*734-1401A>C|||||||rs2014114||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||7/12|ENST00000433728.5:c.*77-1401A>C|||||||rs2014114||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||4/9|ENST00000434810.5:c.240-1401A>C|||||||rs2014114||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs2014114|1376|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||8/13|ENST00000448511.5:c.*401-1401A>C|||||||rs2014114||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.263+1450A>C|||||||rs2014114||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||5/10|ENST00000464581.6:c.349-1401A>C|||||||rs2014114||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||4/4|ENST00000491919.5:n.566-1401A>C|||||||rs2014114||-1||HGNC|HGNC:16627|3||||||||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||5/10|ENST00000648295.1:n.561-1401A>C|||||||rs2014114||-1||HGNC|HGNC:16627|||||||||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||6/11|ENST00000649563.1:c.346-1401A>C|||||||rs2014114||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||10/15|ENST00000650281.1:c.1009-1401A>C|||||||rs2014114||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||9/12|ENST00000711048.1:c.1008+1450A>C|||||||rs2014114||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||10/15|NM_001005735.2:c.1138-1401A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||10/15|NM_001257387.2:c.346-1401A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||8/13|NM_001349956.2:c.808-1401A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||9/14|NM_007194.4:c.1009-1401A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||9/13|NM_145862.2:c.1008+1450A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||5/10|XM_006724114.4:c.529-1401A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||5/10|XM_006724116.3:c.466-1401A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||10/15|XM_011529839.3:c.1168-1401A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||10/14|XM_011529840.4:c.1167+1450A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||8/13|XM_011529842.3:c.838-1401A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||10/10|XM_011529844.3:c.1168-1259A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||8/13|XM_011529845.3:c.346-1401A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||10/15|XM_017028560.2:c.1132-1401A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||9/14|XM_024452148.2:c.1039-1401A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||9/13|XM_024452149.2:c.1038+1450A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||10/15|XM_047441104.1:c.1102-1401A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||10/14|XM_047441105.1:c.1137+1450A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||10/14|XM_047441106.1:c.1101+1450A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||9/14|XM_047441107.1:c.967-1401A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||5/9|XM_047441108.1:c.528+1450A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||9/9|XR_007067954.1:n.1176-1401A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||8/8|XR_007067955.1:n.1019-1401A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||9/9|XR_937806.3:n.1176+1450A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||9/9|XR_937807.3:n.1177-1259A>C|||||||rs2014114||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28698388T>G|||||||||||||;SpliceAI=G|CHEK2|0.07|0.00|0.00|0.00|3|-21|-34|9;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25976;gnomADv4_1_AC_joint_XX=12870;gnomADv4_1_AC_joint_XY=13106;gnomADv4_1_AF_grpmax_joint=0.388565;gnomADv4_1_AF_joint=0.171188;gnomADv4_1_AF_joint_XX=0.165902;gnomADv4_1_AF_joint_XY=0.176716;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=151740;gnomADv4_1_AN_joint_XX=77576;gnomADv4_1_AN_joint_XY=74164;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2533;gnomADv4_1_nhomalt_joint_XX=1174;gnomADv4_1_nhomalt_joint_XY=1359;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28698840 chr22_28698840_A_C A C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.891;CADD_Rawscore=-0.047531;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||9/13|ENST00000348295.7:c.1008+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||10/15|ENST00000382580.6:c.1137+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||7/12|ENST00000402731.6:c.807+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||6/11|ENST00000403642.5:c.735+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||9/14|ENST00000404276.6:c.1008+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||10/15|ENST00000405598.5:c.1008+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||10/15|ENST00000416671.5:c.*498+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||7/12|ENST00000417588.5:c.*305+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||8/13|ENST00000425190.7:c.345+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||9/9|ENST00000433028.6:c.*733+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||7/12|ENST00000433728.5:c.*76+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||4/9|ENST00000434810.5:c.239+998T>G|||||||rs17415919||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs17415919|924|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||8/13|ENST00000448511.5:c.*400+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.263+998T>G|||||||rs17415919||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||5/10|ENST00000464581.6:c.348+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||4/4|ENST00000491919.5:n.565+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627|3||||||||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||5/10|ENST00000648295.1:n.560+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627|||||||||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||6/11|ENST00000649563.1:c.345+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||10/15|ENST00000650281.1:c.1008+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||9/12|ENST00000711048.1:c.1008+998T>G|||||||rs17415919||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||10/15|NM_001005735.2:c.1137+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||10/15|NM_001257387.2:c.345+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||8/13|NM_001349956.2:c.807+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||9/14|NM_007194.4:c.1008+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||9/13|NM_145862.2:c.1008+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||5/10|XM_006724114.4:c.528+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||5/10|XM_006724116.3:c.465+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||10/15|XM_011529839.3:c.1167+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||10/14|XM_011529840.4:c.1167+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||8/13|XM_011529842.3:c.837+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||10/10|XM_011529844.3:c.1167+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||8/13|XM_011529845.3:c.345+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||10/15|XM_017028560.2:c.1131+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||9/14|XM_024452148.2:c.1038+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||9/13|XM_024452149.2:c.1038+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||10/15|XM_047441104.1:c.1101+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||10/14|XM_047441105.1:c.1137+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||10/14|XM_047441106.1:c.1101+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||9/14|XM_047441107.1:c.966+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||5/9|XM_047441108.1:c.528+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||9/9|XR_007067954.1:n.1175+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||8/8|XR_007067955.1:n.1018+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||9/9|XR_937806.3:n.1176+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||9/9|XR_937807.3:n.1176+998T>G|||||||rs17415919||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28698840A>C|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|6|-38|3|-37;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41973;gnomADv4_1_AC_joint_XX=21748;gnomADv4_1_AC_joint_XY=20225;gnomADv4_1_AF_grpmax_joint=0.418367;gnomADv4_1_AF_joint=0.27616;gnomADv4_1_AF_joint_XX=0.27989;gnomADv4_1_AF_joint_XY=0.272259;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151988;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7293;gnomADv4_1_nhomalt_joint_XX=3839;gnomADv4_1_nhomalt_joint_XY=3454;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28699362 chr22_28699362_CT_C;chr22_28699362_C_CT CT C 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=30;CADDIndel_PHREDscore=0.139;CADDIndel_Rawscore=-0.523874;CSQ=-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||9/13|ENST00000348295.7:c.1008+475del|||||||rs67508991||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||10/15|ENST00000382580.6:c.1137+475del|||||||rs67508991||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||7/12|ENST00000402731.6:c.807+475del|||||||rs67508991||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||6/11|ENST00000403642.5:c.735+475del|||||||rs67508991||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||9/14|ENST00000404276.6:c.1008+475del|||||||rs67508991||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||10/15|ENST00000405598.5:c.1008+475del|||||||rs67508991||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||10/15|ENST00000416671.5:c.*498+475del|||||||rs67508991||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||7/12|ENST00000417588.5:c.*305+475del|||||||rs67508991||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||8/13|ENST00000425190.7:c.345+475del|||||||rs67508991||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||9/9|ENST00000433028.6:c.*733+475del|||||||rs67508991||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||7/12|ENST00000433728.5:c.*76+475del|||||||rs67508991||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||4/9|ENST00000434810.5:c.239+475del|||||||rs67508991||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs67508991|401|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||8/13|ENST00000448511.5:c.*400+475del|||||||rs67508991||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.263+475del|||||||rs67508991||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||5/10|ENST00000464581.6:c.348+475del|||||||rs67508991||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||4/4|ENST00000491919.5:n.565+475del|||||||rs67508991||-1||HGNC|HGNC:16627|3||||||||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||5/10|ENST00000648295.1:n.560+475del|||||||rs67508991||-1||HGNC|HGNC:16627|||||||||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||6/11|ENST00000649563.1:c.345+475del|||||||rs67508991||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||10/15|ENST00000650281.1:c.1008+475del|||||||rs67508991||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||9/12|ENST00000711048.1:c.1008+475del|||||||rs67508991||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||10/15|NM_001005735.2:c.1137+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||10/15|NM_001257387.2:c.345+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||8/13|NM_001349956.2:c.807+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||9/14|NM_007194.4:c.1008+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||9/13|NM_145862.2:c.1008+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||5/10|XM_006724114.4:c.528+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||5/10|XM_006724116.3:c.465+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||10/15|XM_011529839.3:c.1167+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||10/14|XM_011529840.4:c.1167+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||8/13|XM_011529842.3:c.837+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||10/10|XM_011529844.3:c.1167+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||8/13|XM_011529845.3:c.345+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||10/15|XM_017028560.2:c.1131+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||9/14|XM_024452148.2:c.1038+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||9/13|XM_024452149.2:c.1038+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||10/15|XM_047441104.1:c.1101+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||10/14|XM_047441105.1:c.1137+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||10/14|XM_047441106.1:c.1101+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||9/14|XM_047441107.1:c.966+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||5/9|XM_047441108.1:c.528+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||9/9|XR_007067954.1:n.1175+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||8/8|XR_007067955.1:n.1018+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||9/9|XR_937806.3:n.1176+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||9/9|XR_937807.3:n.1176+475del|||||||rs67508991||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28699384del|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|4|49|-31|38;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27489;gnomADv4_1_AC_joint_XX=15212;gnomADv4_1_AC_joint_XY=12277;gnomADv4_1_AF_grpmax_joint=0.520885;gnomADv4_1_AF_joint=0.354368;gnomADv4_1_AF_joint_XX=0.353242;gnomADv4_1_AF_joint_XY=0.355773;gnomADv4_1_AN_grpmax_joint=1628;gnomADv4_1_AN_joint=77572;gnomADv4_1_AN_joint_XX=43064;gnomADv4_1_AN_joint_XY=34508;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1665;gnomADv4_1_nhomalt_joint_XX=775;gnomADv4_1_nhomalt_joint_XY=890;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28699362 chr22_28699362_CT_C;chr22_28699362_C_CT C CT 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=25;CADDIndel_PHREDscore=0.175;CADDIndel_Rawscore=-0.462434;CSQ=T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||9/13|ENST00000348295.7:c.1008+475dup|||||||rs67508991||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||10/15|ENST00000382580.6:c.1137+475dup|||||||rs67508991||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||7/12|ENST00000402731.6:c.807+475dup|||||||rs67508991||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||6/11|ENST00000403642.5:c.735+475dup|||||||rs67508991||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||9/14|ENST00000404276.6:c.1008+475dup|||||||rs67508991||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||10/15|ENST00000405598.5:c.1008+475dup|||||||rs67508991||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||10/15|ENST00000416671.5:c.*498+475dup|||||||rs67508991||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||7/12|ENST00000417588.5:c.*305+475dup|||||||rs67508991||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||8/13|ENST00000425190.7:c.345+475dup|||||||rs67508991||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||9/9|ENST00000433028.6:c.*733+475dup|||||||rs67508991||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||7/12|ENST00000433728.5:c.*76+475dup|||||||rs67508991||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||4/9|ENST00000434810.5:c.239+475dup|||||||rs67508991||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs67508991|401|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||8/13|ENST00000448511.5:c.*400+475dup|||||||rs67508991||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.263+475dup|||||||rs67508991||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||5/10|ENST00000464581.6:c.348+475dup|||||||rs67508991||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||4/4|ENST00000491919.5:n.565+475dup|||||||rs67508991||-1||HGNC|HGNC:16627|3||||||||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||5/10|ENST00000648295.1:n.560+475dup|||||||rs67508991||-1||HGNC|HGNC:16627|||||||||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||6/11|ENST00000649563.1:c.345+475dup|||||||rs67508991||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||10/15|ENST00000650281.1:c.1008+475dup|||||||rs67508991||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||9/12|ENST00000711048.1:c.1008+475dup|||||||rs67508991||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||10/15|NM_001005735.2:c.1137+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||10/15|NM_001257387.2:c.345+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||8/13|NM_001349956.2:c.807+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||9/14|NM_007194.4:c.1008+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||9/13|NM_145862.2:c.1008+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||5/10|XM_006724114.4:c.528+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||5/10|XM_006724116.3:c.465+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||10/15|XM_011529839.3:c.1167+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||10/14|XM_011529840.4:c.1167+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||8/13|XM_011529842.3:c.837+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||10/10|XM_011529844.3:c.1167+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||8/13|XM_011529845.3:c.345+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||10/15|XM_017028560.2:c.1131+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||9/14|XM_024452148.2:c.1038+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||9/13|XM_024452149.2:c.1038+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||10/15|XM_047441104.1:c.1101+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||10/14|XM_047441105.1:c.1137+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||10/14|XM_047441106.1:c.1101+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||9/14|XM_047441107.1:c.966+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||5/9|XM_047441108.1:c.528+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||9/9|XR_007067954.1:n.1175+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||8/8|XR_007067955.1:n.1018+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||9/9|XR_937806.3:n.1176+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||9/9|XR_937807.3:n.1176+475dup|||||||rs67508991||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28699384dup|||||||||||||;SpliceAI=CT|CHEK2|0.00|0.00|0.00|0.00|-7|38|-31|38;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17605;gnomADv4_1_AC_joint_XX=9898;gnomADv4_1_AC_joint_XY=7707;gnomADv4_1_AF_grpmax_joint=0.273173;gnomADv4_1_AF_joint=0.22526;gnomADv4_1_AF_joint_XX=0.228033;gnomADv4_1_AF_joint_XY=0.221797;gnomADv4_1_AN_grpmax_joint=2244;gnomADv4_1_AN_joint=78154;gnomADv4_1_AN_joint_XX=43406;gnomADv4_1_AN_joint_XY=34748;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2259;gnomADv4_1_nhomalt_joint_XX=1322;gnomADv4_1_nhomalt_joint_XY=937;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28699646 chr22_28699646_AC_A AC A 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.191;CADDIndel_Rawscore=-0.439097;CSQ=-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||9/13|ENST00000348295.7:c.1008+191del|||||||rs17885956||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||10/15|ENST00000382580.6:c.1137+191del|||||||rs17885956||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||7/12|ENST00000402731.6:c.807+191del|||||||rs17885956||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||6/11|ENST00000403642.5:c.735+191del|||||||rs17885956||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||9/14|ENST00000404276.6:c.1008+191del|||||||rs17885956||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||10/15|ENST00000405598.5:c.1008+191del|||||||rs17885956||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||10/15|ENST00000416671.5:c.*498+191del|||||||rs17885956||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||7/12|ENST00000417588.5:c.*305+191del|||||||rs17885956||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||8/13|ENST00000425190.7:c.345+191del|||||||rs17885956||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||9/9|ENST00000433028.6:c.*733+191del|||||||rs17885956||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||7/12|ENST00000433728.5:c.*76+191del|||||||rs17885956||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||4/9|ENST00000434810.5:c.239+191del|||||||rs17885956||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs17885956|117|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||8/13|ENST00000448511.5:c.*400+191del|||||||rs17885956||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||4/5|ENST00000456369.5:c.263+191del|||||||rs17885956||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||5/10|ENST00000464581.6:c.348+191del|||||||rs17885956||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||4/4|ENST00000491919.5:n.565+191del|||||||rs17885956||-1||HGNC|HGNC:16627|3||||||||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||5/10|ENST00000648295.1:n.560+191del|||||||rs17885956||-1||HGNC|HGNC:16627|||||||||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||6/11|ENST00000649563.1:c.345+191del|||||||rs17885956||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||10/15|ENST00000650281.1:c.1008+191del|||||||rs17885956||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||9/12|ENST00000711048.1:c.1008+191del|||||||rs17885956||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||C|C||1||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||10/15|NM_001005735.2:c.1137+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||10/15|NM_001257387.2:c.345+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||8/13|NM_001349956.2:c.807+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||9/14|NM_007194.4:c.1008+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||9/13|NM_145862.2:c.1008+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||C|C|OK|||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||5/10|XM_006724114.4:c.528+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||5/10|XM_006724116.3:c.465+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||10/15|XM_011529839.3:c.1167+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||10/14|XM_011529840.4:c.1167+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||8/13|XM_011529842.3:c.837+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||10/10|XM_011529844.3:c.1167+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||8/13|XM_011529845.3:c.345+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||10/15|XM_017028560.2:c.1131+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||9/14|XM_024452148.2:c.1038+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||9/13|XM_024452149.2:c.1038+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||10/15|XM_047441104.1:c.1101+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||10/14|XM_047441105.1:c.1137+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||10/14|XM_047441106.1:c.1101+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||9/14|XM_047441107.1:c.966+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||5/9|XM_047441108.1:c.528+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||9/9|XR_007067954.1:n.1175+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||8/8|XR_007067955.1:n.1018+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||9/9|XR_937806.3:n.1176+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||9/9|XR_937807.3:n.1176+191del|||||||rs17885956||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28699648del|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.28699648del;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=CHEK2:11200;ClinVar_Variation_ID=1238739;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|36|32|-45|-50;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111705;gnomADv4_1_AC_joint_XX=51870;gnomADv4_1_AC_joint_XY=59835;gnomADv4_1_AF_grpmax_joint=0.399228;gnomADv4_1_AF_joint=0.18688;gnomADv4_1_AF_joint_XX=0.181488;gnomADv4_1_AF_joint_XY=0.191821;gnomADv4_1_AN_grpmax_joint=34474;gnomADv4_1_AN_joint=597736;gnomADv4_1_AN_joint_XX=285804;gnomADv4_1_AN_joint_XY=311932;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12426;gnomADv4_1_nhomalt_joint_XX=5622;gnomADv4_1_nhomalt_joint_XY=6804;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28700373 chr22_28700373_G_A G A 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADD_PHREDscore=0.266;CADD_Rawscore=-0.352928;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||8/13|ENST00000348295.7:c.909-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||9/15|ENST00000382580.6:c.1038-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||6/12|ENST00000402731.6:c.708-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||5/11|ENST00000403642.5:c.636-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||8/14|ENST00000404276.6:c.909-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||9/15|ENST00000405598.5:c.909-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||9/15|ENST00000416671.5:c.*399-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||6/12|ENST00000417588.5:c.*206-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||7/13|ENST00000425190.7:c.246-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||8/9|ENST00000433028.6:c.*634-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.847-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||3/9|ENST00000434810.5:c.140-436C>T|||||||rs12628239||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||6/6|ENST00000439346.6:c.*206-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||7/13|ENST00000448511.5:c.*301-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||3/5|ENST00000456369.5:c.164-436C>T|||||||rs12628239||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||4/10|ENST00000464581.6:c.249-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||3/4|ENST00000491919.5:n.466-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|3||||||||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||4/10|ENST00000648295.1:n.461-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||5/11|ENST00000649563.1:c.246-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||9/15|ENST00000650281.1:c.909-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||8/12|ENST00000711048.1:c.909-436C>T|||||||rs12628239||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||9/15|NM_001005735.2:c.1038-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||9/15|NM_001257387.2:c.246-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||7/13|NM_001349956.2:c.708-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||8/14|NM_007194.4:c.909-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||8/13|NM_145862.2:c.909-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||4/10|XM_006724114.4:c.429-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||4/10|XM_006724116.3:c.366-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||9/15|XM_011529839.3:c.1068-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||9/14|XM_011529840.4:c.1068-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||7/13|XM_011529842.3:c.738-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||9/10|XM_011529844.3:c.1068-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||7/13|XM_011529845.3:c.246-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||9/15|XM_017028560.2:c.1032-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||8/14|XM_024452148.2:c.939-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||8/13|XM_024452149.2:c.939-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||9/15|XM_047441104.1:c.1002-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||9/14|XM_047441105.1:c.1038-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||9/14|XM_047441106.1:c.1002-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||8/14|XM_047441107.1:c.867-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||4/9|XM_047441108.1:c.429-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1076-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.919-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1077-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1077-436C>T|||||||rs12628239||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28700373G>A|||||||||||||;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|-31|1|31|-47;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44626;gnomADv4_1_AC_joint_XX=23039;gnomADv4_1_AC_joint_XY=21587;gnomADv4_1_AF_grpmax_joint=0.355465;gnomADv4_1_AF_joint=0.293932;gnomADv4_1_AF_joint_XX=0.296887;gnomADv4_1_AF_joint_XY=0.290844;gnomADv4_1_AN_grpmax_joint=15242;gnomADv4_1_AN_joint=151824;gnomADv4_1_AN_joint_XX=77602;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=6712;gnomADv4_1_nhomalt_joint_XX=3448;gnomADv4_1_nhomalt_joint_XY=3264;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28701954 chr22_28701954_A_ATT;chr22_28701954_A_AT A AT 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADDIndel_PHREDscore=0.942;CADDIndel_Rawscore=-0.033341;CSQ=T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||8/13|ENST00000348295.7:c.908+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||9/15|ENST00000382580.6:c.1037+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||6/12|ENST00000402731.6:c.707+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||5/11|ENST00000403642.5:c.635+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||8/14|ENST00000404276.6:c.908+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||9/15|ENST00000405598.5:c.908+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||9/15|ENST00000416671.5:c.*398+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||6/12|ENST00000417588.5:c.*205+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||7/13|ENST00000425190.7:c.245+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||8/9|ENST00000433028.6:c.*633+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.847-2018dup|||||||rs35082981||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||3/9|ENST00000434810.5:c.139+1550dup|||||||rs35082981||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||6/6|ENST00000439346.6:c.*205+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||7/13|ENST00000448511.5:c.*300+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||3/5|ENST00000456369.5:c.163+1550dup|||||||rs35082981||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||4/10|ENST00000464581.6:c.248+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||3/4|ENST00000491919.5:n.465+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|3||||||||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||4/10|ENST00000648295.1:n.460+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|||||||||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||5/11|ENST00000649563.1:c.245+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||9/15|ENST00000650281.1:c.908+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||8/12|ENST00000711048.1:c.908+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||9/15|NM_001005735.2:c.1037+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||9/15|NM_001257387.2:c.245+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||7/13|NM_001349956.2:c.707+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||8/14|NM_007194.4:c.908+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||8/13|NM_145862.2:c.908+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||4/10|XM_006724114.4:c.428+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||4/10|XM_006724116.3:c.365+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||9/15|XM_011529839.3:c.1067+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||9/14|XM_011529840.4:c.1067+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||7/13|XM_011529842.3:c.737+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||9/10|XM_011529844.3:c.1067+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||7/13|XM_011529845.3:c.245+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||9/15|XM_017028560.2:c.1031+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||8/14|XM_024452148.2:c.938+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||8/13|XM_024452149.2:c.938+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||9/15|XM_047441104.1:c.1001+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||9/14|XM_047441105.1:c.1037+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||9/14|XM_047441106.1:c.1001+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||8/14|XM_047441107.1:c.866+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||4/9|XM_047441108.1:c.428+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1076-2018dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.919-2018dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1077-2018dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1077-2018dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28701968dup|||||||||||||;SpliceAI=AT|CHEK2|0.00|0.00|0.00|0.00|43|24|34|-1;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62255;gnomADv4_1_AC_joint_XX=32034;gnomADv4_1_AC_joint_XY=30221;gnomADv4_1_AF_grpmax_joint=0.578284;gnomADv4_1_AF_joint=0.427511;gnomADv4_1_AF_joint_XX=0.425746;gnomADv4_1_AF_joint_XY=0.429398;gnomADv4_1_AN_grpmax_joint=4918;gnomADv4_1_AN_joint=145622;gnomADv4_1_AN_joint_XX=75242;gnomADv4_1_AN_joint_XY=70380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13366;gnomADv4_1_nhomalt_joint_XX=6789;gnomADv4_1_nhomalt_joint_XY=6577;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28701954 chr22_28701954_A_ATT;chr22_28701954_A_AT A ATT 32 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADDIndel_PHREDscore=0.885;CADDIndel_Rawscore=-0.0492;CSQ=TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||8/13|ENST00000348295.7:c.908+1549_908+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||9/15|ENST00000382580.6:c.1037+1549_1037+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||6/12|ENST00000402731.6:c.707+1549_707+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||5/11|ENST00000403642.5:c.635+1549_635+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||8/14|ENST00000404276.6:c.908+1549_908+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||9/15|ENST00000405598.5:c.908+1549_908+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||9/15|ENST00000416671.5:c.*398+1549_*398+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||6/12|ENST00000417588.5:c.*205+1549_*205+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||7/13|ENST00000425190.7:c.245+1549_245+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||8/9|ENST00000433028.6:c.*633+1549_*633+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.847-2019_847-2018dup|||||||rs35082981||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||3/9|ENST00000434810.5:c.139+1549_139+1550dup|||||||rs35082981||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||6/6|ENST00000439346.6:c.*205+1549_*205+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||7/13|ENST00000448511.5:c.*300+1549_*300+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||3/5|ENST00000456369.5:c.163+1549_163+1550dup|||||||rs35082981||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||4/10|ENST00000464581.6:c.248+1549_248+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||3/4|ENST00000491919.5:n.465+1549_465+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|3||||||||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||4/10|ENST00000648295.1:n.460+1549_460+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|||||||||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||5/11|ENST00000649563.1:c.245+1549_245+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||9/15|ENST00000650281.1:c.908+1549_908+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||8/12|ENST00000711048.1:c.908+1549_908+1550dup|||||||rs35082981||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||9/15|NM_001005735.2:c.1037+1549_1037+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||9/15|NM_001257387.2:c.245+1549_245+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||7/13|NM_001349956.2:c.707+1549_707+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||8/14|NM_007194.4:c.908+1549_908+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||8/13|NM_145862.2:c.908+1549_908+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||4/10|XM_006724114.4:c.428+1549_428+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||4/10|XM_006724116.3:c.365+1549_365+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||9/15|XM_011529839.3:c.1067+1549_1067+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||9/14|XM_011529840.4:c.1067+1549_1067+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||7/13|XM_011529842.3:c.737+1549_737+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||9/10|XM_011529844.3:c.1067+1549_1067+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||7/13|XM_011529845.3:c.245+1549_245+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||9/15|XM_017028560.2:c.1031+1549_1031+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||8/14|XM_024452148.2:c.938+1549_938+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||8/13|XM_024452149.2:c.938+1549_938+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||9/15|XM_047441104.1:c.1001+1549_1001+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||9/14|XM_047441105.1:c.1037+1549_1037+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||9/14|XM_047441106.1:c.1001+1549_1001+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||8/14|XM_047441107.1:c.866+1549_866+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||4/9|XM_047441108.1:c.428+1549_428+1550dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1076-2019_1076-2018dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.919-2019_919-2018dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1077-2019_1077-2018dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1077-2019_1077-2018dup|||||||rs35082981||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28701967_28701968dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30989;gnomADv4_1_AC_joint_XX=15983;gnomADv4_1_AC_joint_XY=15006;gnomADv4_1_AF_grpmax_joint=0.352223;gnomADv4_1_AF_joint=0.212743;gnomADv4_1_AF_joint_XX=0.212331;gnomADv4_1_AF_joint_XY=0.213184;gnomADv4_1_AN_grpmax_joint=4588;gnomADv4_1_AN_joint=145664;gnomADv4_1_AN_joint_XX=75274;gnomADv4_1_AN_joint_XY=70390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3577;gnomADv4_1_nhomalt_joint_XX=1842;gnomADv4_1_nhomalt_joint_XY=1735;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28702135 chr22_28702135_C_CTGTGTGTGTGTG;chr22_28702135_C_CTGTGTG C CTGTGTGTGTGTG 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=37;CADDIndel_PHREDscore=0.432;CADDIndel_Rawscore=-0.230008;CSQ=TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||8/13|ENST00000348295.7:c.908+1358_908+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||9/15|ENST00000382580.6:c.1037+1358_1037+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||6/12|ENST00000402731.6:c.707+1358_707+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||5/11|ENST00000403642.5:c.635+1358_635+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||8/14|ENST00000404276.6:c.908+1358_908+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||9/15|ENST00000405598.5:c.908+1358_908+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||9/15|ENST00000416671.5:c.*398+1358_*398+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||6/12|ENST00000417588.5:c.*205+1358_*205+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||7/13|ENST00000425190.7:c.245+1358_245+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||8/9|ENST00000433028.6:c.*633+1358_*633+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.847-2210_847-2199dup|||||||rs141703411||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||3/9|ENST00000434810.5:c.139+1358_139+1369dup|||||||rs141703411||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||6/6|ENST00000439346.6:c.*205+1358_*205+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||7/13|ENST00000448511.5:c.*300+1358_*300+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||3/5|ENST00000456369.5:c.163+1358_163+1369dup|||||||rs141703411||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||4/10|ENST00000464581.6:c.248+1358_248+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||3/4|ENST00000491919.5:n.465+1358_465+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|3||||||||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||4/10|ENST00000648295.1:n.460+1358_460+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|||||||||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||5/11|ENST00000649563.1:c.245+1358_245+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||9/15|ENST00000650281.1:c.908+1358_908+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||8/12|ENST00000711048.1:c.908+1358_908+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||9/15|NM_001005735.2:c.1037+1358_1037+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||9/15|NM_001257387.2:c.245+1358_245+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||7/13|NM_001349956.2:c.707+1358_707+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||8/14|NM_007194.4:c.908+1358_908+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||8/13|NM_145862.2:c.908+1358_908+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||4/10|XM_006724114.4:c.428+1358_428+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||4/10|XM_006724116.3:c.365+1358_365+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||9/15|XM_011529839.3:c.1067+1358_1067+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||9/14|XM_011529840.4:c.1067+1358_1067+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||7/13|XM_011529842.3:c.737+1358_737+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||9/10|XM_011529844.3:c.1067+1358_1067+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||7/13|XM_011529845.3:c.245+1358_245+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||9/15|XM_017028560.2:c.1031+1358_1031+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||8/14|XM_024452148.2:c.938+1358_938+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||8/13|XM_024452149.2:c.938+1358_938+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||9/15|XM_047441104.1:c.1001+1358_1001+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||9/14|XM_047441105.1:c.1037+1358_1037+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||9/14|XM_047441106.1:c.1001+1358_1001+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||8/14|XM_047441107.1:c.866+1358_866+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||4/9|XM_047441108.1:c.428+1358_428+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1076-2210_1076-2199dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.919-2210_919-2199dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1077-2210_1077-2199dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||,TGTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1077-2210_1077-2199dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28702161_28702172dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11813;gnomADv4_1_AC_joint_XX=6233;gnomADv4_1_AC_joint_XY=5580;gnomADv4_1_AF_grpmax_joint=0.16866;gnomADv4_1_AF_joint=0.084233;gnomADv4_1_AF_joint_XX=0.0850898;gnomADv4_1_AF_joint_XY=0.083296;gnomADv4_1_AN_grpmax_joint=4180;gnomADv4_1_AN_joint=140242;gnomADv4_1_AN_joint_XX=73252;gnomADv4_1_AN_joint_XY=66990;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=722;gnomADv4_1_nhomalt_joint_XX=379;gnomADv4_1_nhomalt_joint_XY=343;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28702135 chr22_28702135_C_CTGTGTGTGTGTG;chr22_28702135_C_CTGTGTG C CTGTGTG 37 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=28;CADDIndel_PHREDscore=0.486;CADDIndel_Rawscore=-0.200463;CSQ=TGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||8/13|ENST00000348295.7:c.908+1364_908+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||9/15|ENST00000382580.6:c.1037+1364_1037+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||6/12|ENST00000402731.6:c.707+1364_707+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||5/11|ENST00000403642.5:c.635+1364_635+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||8/14|ENST00000404276.6:c.908+1364_908+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||9/15|ENST00000405598.5:c.908+1364_908+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||9/15|ENST00000416671.5:c.*398+1364_*398+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||6/12|ENST00000417588.5:c.*205+1364_*205+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||7/13|ENST00000425190.7:c.245+1364_245+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||8/9|ENST00000433028.6:c.*633+1364_*633+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.847-2204_847-2199dup|||||||rs141703411||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||3/9|ENST00000434810.5:c.139+1364_139+1369dup|||||||rs141703411||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||6/6|ENST00000439346.6:c.*205+1364_*205+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||7/13|ENST00000448511.5:c.*300+1364_*300+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||3/5|ENST00000456369.5:c.163+1364_163+1369dup|||||||rs141703411||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||4/10|ENST00000464581.6:c.248+1364_248+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||3/4|ENST00000491919.5:n.465+1364_465+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|3||||||||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||4/10|ENST00000648295.1:n.460+1364_460+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|||||||||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||5/11|ENST00000649563.1:c.245+1364_245+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||9/15|ENST00000650281.1:c.908+1364_908+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||8/12|ENST00000711048.1:c.908+1364_908+1369dup|||||||rs141703411||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||9/15|NM_001005735.2:c.1037+1364_1037+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||9/15|NM_001257387.2:c.245+1364_245+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||7/13|NM_001349956.2:c.707+1364_707+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||8/14|NM_007194.4:c.908+1364_908+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||8/13|NM_145862.2:c.908+1364_908+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||4/10|XM_006724114.4:c.428+1364_428+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||4/10|XM_006724116.3:c.365+1364_365+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||9/15|XM_011529839.3:c.1067+1364_1067+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||9/14|XM_011529840.4:c.1067+1364_1067+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||7/13|XM_011529842.3:c.737+1364_737+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||9/10|XM_011529844.3:c.1067+1364_1067+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||7/13|XM_011529845.3:c.245+1364_245+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||9/15|XM_017028560.2:c.1031+1364_1031+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||8/14|XM_024452148.2:c.938+1364_938+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||8/13|XM_024452149.2:c.938+1364_938+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||9/15|XM_047441104.1:c.1001+1364_1001+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||9/14|XM_047441105.1:c.1037+1364_1037+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||9/14|XM_047441106.1:c.1001+1364_1001+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||8/14|XM_047441107.1:c.866+1364_866+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||4/9|XM_047441108.1:c.428+1364_428+1369dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1076-2204_1076-2199dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.919-2204_919-2199dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1077-2204_1077-2199dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||,TGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1077-2204_1077-2199dup|||||||rs141703411||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28702167_28702172dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20003;gnomADv4_1_AC_joint_XX=10464;gnomADv4_1_AC_joint_XY=9539;gnomADv4_1_AF_grpmax_joint=0.178657;gnomADv4_1_AF_joint=0.142644;gnomADv4_1_AF_joint_XX=0.142861;gnomADv4_1_AF_joint_XY=0.142407;gnomADv4_1_AN_grpmax_joint=4170;gnomADv4_1_AN_joint=140230;gnomADv4_1_AN_joint_XX=73246;gnomADv4_1_AN_joint_XY=66984;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1529;gnomADv4_1_nhomalt_joint_XX=766;gnomADv4_1_nhomalt_joint_XY=763;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28702233 chr22_28702233_A_AT A AT 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=44;CADDIndel_PHREDscore=0.628;CADDIndel_Rawscore=-0.136342;CSQ=T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||8/13|ENST00000348295.7:c.908+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||9/15|ENST00000382580.6:c.1037+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||6/12|ENST00000402731.6:c.707+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||5/11|ENST00000403642.5:c.635+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||8/14|ENST00000404276.6:c.908+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||9/15|ENST00000405598.5:c.908+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||9/15|ENST00000416671.5:c.*398+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||6/12|ENST00000417588.5:c.*205+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||7/13|ENST00000425190.7:c.245+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||8/9|ENST00000433028.6:c.*633+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.847-2297dup|||||||rs71709249||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||3/9|ENST00000434810.5:c.139+1271dup|||||||rs71709249||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||6/6|ENST00000439346.6:c.*205+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||7/13|ENST00000448511.5:c.*300+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||3/5|ENST00000456369.5:c.163+1271dup|||||||rs71709249||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||4/10|ENST00000464581.6:c.248+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||3/4|ENST00000491919.5:n.465+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627|3||||||||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||4/10|ENST00000648295.1:n.460+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627|||||||||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||5/11|ENST00000649563.1:c.245+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||9/15|ENST00000650281.1:c.908+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||8/12|ENST00000711048.1:c.908+1271dup|||||||rs71709249||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||9/15|NM_001005735.2:c.1037+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||9/15|NM_001257387.2:c.245+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||7/13|NM_001349956.2:c.707+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||8/14|NM_007194.4:c.908+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||8/13|NM_145862.2:c.908+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||4/10|XM_006724114.4:c.428+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||4/10|XM_006724116.3:c.365+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||9/15|XM_011529839.3:c.1067+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||9/14|XM_011529840.4:c.1067+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||7/13|XM_011529842.3:c.737+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||9/10|XM_011529844.3:c.1067+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||7/13|XM_011529845.3:c.245+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||9/15|XM_017028560.2:c.1031+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||8/14|XM_024452148.2:c.938+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||8/13|XM_024452149.2:c.938+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||9/15|XM_047441104.1:c.1001+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||9/14|XM_047441105.1:c.1037+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||9/14|XM_047441106.1:c.1001+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||8/14|XM_047441107.1:c.866+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||4/9|XM_047441108.1:c.428+1271dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1076-2297dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.919-2297dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1077-2297dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1077-2297dup|||||||rs71709249||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28702246dup|||||||||||||;SpliceAI=AT|CHEK2|0.00|0.00|0.00|0.00|39|-20|-39|-36;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72722;gnomADv4_1_AC_joint_XX=37839;gnomADv4_1_AC_joint_XY=34883;gnomADv4_1_AF_grpmax_joint=0.712713;gnomADv4_1_AF_joint=0.567635;gnomADv4_1_AF_joint_XX=0.565639;gnomADv4_1_AF_joint_XY=0.569816;gnomADv4_1_AN_grpmax_joint=4452;gnomADv4_1_AN_joint=128114;gnomADv4_1_AN_joint_XX=66896;gnomADv4_1_AN_joint_XY=61218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=20286;gnomADv4_1_nhomalt_joint_XX=10475;gnomADv4_1_nhomalt_joint_XY=9811;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28702537 chr22_28702537_CT_C CT C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=45;CADDIndel_PHREDscore=0.107;CADDIndel_Rawscore=-0.592497;CSQ=-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||8/13|ENST00000348295.7:c.908+967del|||||||rs35377840||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||9/15|ENST00000382580.6:c.1037+967del|||||||rs35377840||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||6/12|ENST00000402731.6:c.707+967del|||||||rs35377840||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||5/11|ENST00000403642.5:c.635+967del|||||||rs35377840||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||8/14|ENST00000404276.6:c.908+967del|||||||rs35377840||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||9/15|ENST00000405598.5:c.908+967del|||||||rs35377840||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||9/15|ENST00000416671.5:c.*398+967del|||||||rs35377840||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||6/12|ENST00000417588.5:c.*205+967del|||||||rs35377840||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||7/13|ENST00000425190.7:c.245+967del|||||||rs35377840||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||8/9|ENST00000433028.6:c.*633+967del|||||||rs35377840||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.847-2601del|||||||rs35377840||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||3/9|ENST00000434810.5:c.139+967del|||||||rs35377840||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||6/6|ENST00000439346.6:c.*205+967del|||||||rs35377840||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||7/13|ENST00000448511.5:c.*300+967del|||||||rs35377840||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||3/5|ENST00000456369.5:c.163+967del|||||||rs35377840||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||4/10|ENST00000464581.6:c.248+967del|||||||rs35377840||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||3/4|ENST00000491919.5:n.465+967del|||||||rs35377840||-1||HGNC|HGNC:16627|3||||||||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||4/10|ENST00000648295.1:n.460+967del|||||||rs35377840||-1||HGNC|HGNC:16627|||||||||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||5/11|ENST00000649563.1:c.245+967del|||||||rs35377840||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||9/15|ENST00000650281.1:c.908+967del|||||||rs35377840||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||8/12|ENST00000711048.1:c.908+967del|||||||rs35377840||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||9/15|NM_001005735.2:c.1037+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||9/15|NM_001257387.2:c.245+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||7/13|NM_001349956.2:c.707+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||8/14|NM_007194.4:c.908+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||8/13|NM_145862.2:c.908+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||4/10|XM_006724114.4:c.428+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||4/10|XM_006724116.3:c.365+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||9/15|XM_011529839.3:c.1067+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||9/14|XM_011529840.4:c.1067+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||7/13|XM_011529842.3:c.737+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||9/10|XM_011529844.3:c.1067+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||7/13|XM_011529845.3:c.245+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||9/15|XM_017028560.2:c.1031+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||8/14|XM_024452148.2:c.938+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||8/13|XM_024452149.2:c.938+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||9/15|XM_047441104.1:c.1001+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||9/14|XM_047441105.1:c.1037+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||9/14|XM_047441106.1:c.1001+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||8/14|XM_047441107.1:c.866+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||4/9|XM_047441108.1:c.428+967del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1076-2601del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.919-2601del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1077-2601del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1077-2601del|||||||rs35377840||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28702556del|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|43|-34|41|43;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38731;gnomADv4_1_AC_joint_XX=21008;gnomADv4_1_AC_joint_XY=17723;gnomADv4_1_AF_grpmax_joint=0.432927;gnomADv4_1_AF_joint=0.320049;gnomADv4_1_AF_joint_XX=0.327493;gnomADv4_1_AF_joint_XY=0.311652;gnomADv4_1_AN_grpmax_joint=164;gnomADv4_1_AN_joint=121016;gnomADv4_1_AN_joint_XX=64148;gnomADv4_1_AN_joint_XY=56868;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6479;gnomADv4_1_nhomalt_joint_XX=3484;gnomADv4_1_nhomalt_joint_XY=2995;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28702588 chr22_28702588_C_G C G 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.547;CADD_Rawscore=0.096159;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||8/13|ENST00000348295.7:c.908+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||9/15|ENST00000382580.6:c.1037+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||6/12|ENST00000402731.6:c.707+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||5/11|ENST00000403642.5:c.635+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||8/14|ENST00000404276.6:c.908+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||9/15|ENST00000405598.5:c.908+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||9/15|ENST00000416671.5:c.*398+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||6/12|ENST00000417588.5:c.*205+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||7/13|ENST00000425190.7:c.245+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||8/9|ENST00000433028.6:c.*633+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.847-2651G>C|||||||rs4820791||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||3/9|ENST00000434810.5:c.139+917G>C|||||||rs4820791||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||6/6|ENST00000439346.6:c.*205+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||7/13|ENST00000448511.5:c.*300+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||3/5|ENST00000456369.5:c.163+917G>C|||||||rs4820791||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||4/10|ENST00000464581.6:c.248+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||3/4|ENST00000491919.5:n.465+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627|3||||||||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||4/10|ENST00000648295.1:n.460+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627|||||||||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||5/11|ENST00000649563.1:c.245+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||9/15|ENST00000650281.1:c.908+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||8/12|ENST00000711048.1:c.908+917G>C|||||||rs4820791||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||C|C||1||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||9/15|NM_001005735.2:c.1037+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||9/15|NM_001257387.2:c.245+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||7/13|NM_001349956.2:c.707+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||8/14|NM_007194.4:c.908+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||8/13|NM_145862.2:c.908+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||C|C|OK|||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||4/10|XM_006724114.4:c.428+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||4/10|XM_006724116.3:c.365+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||9/15|XM_011529839.3:c.1067+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||9/14|XM_011529840.4:c.1067+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||7/13|XM_011529842.3:c.737+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||9/10|XM_011529844.3:c.1067+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||7/13|XM_011529845.3:c.245+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||9/15|XM_017028560.2:c.1031+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||8/14|XM_024452148.2:c.938+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||8/13|XM_024452149.2:c.938+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||9/15|XM_047441104.1:c.1001+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||9/14|XM_047441105.1:c.1037+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||9/14|XM_047441106.1:c.1001+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||8/14|XM_047441107.1:c.866+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||4/9|XM_047441108.1:c.428+917G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1076-2651G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.919-2651G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1077-2651G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1077-2651G>C|||||||rs4820791||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28702588C>G|||||||||||||;SpliceAI=G|CHEK2|0.00|0.00|0.00|0.00|4|13|-8|35;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37212;gnomADv4_1_AC_joint_XX=19361;gnomADv4_1_AC_joint_XY=17851;gnomADv4_1_AF_grpmax_joint=0.32605;gnomADv4_1_AF_joint=0.256196;gnomADv4_1_AF_joint_XX=0.258071;gnomADv4_1_AF_joint_XY=0.254194;gnomADv4_1_AN_grpmax_joint=14142;gnomADv4_1_AN_joint=145248;gnomADv4_1_AN_joint_XX=75022;gnomADv4_1_AN_joint_XY=70226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=5188;gnomADv4_1_nhomalt_joint_XX=2647;gnomADv4_1_nhomalt_joint_XY=2541;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28703766 chr22_28703766_T_C T C 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=4.848;CADD_Rawscore=0.441749;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.847-3829A>G|||||||rs2267130||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-200A>G|||||||rs2267130||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-200A>G|||||||rs2267130||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627|3||||||||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627|||||||||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-200A>G|||||||rs2267130||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-200A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1076-3829A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.919-3829A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1077-3829A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1077-3829A>G|||||||rs2267130||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28703766T>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.28703766T>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=CHEK2:11200;ClinVar_Variation_ID=1292660;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|-1|-25|-26|11;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54513;gnomADv4_1_AC_joint_XX=27931;gnomADv4_1_AC_joint_XY=26582;gnomADv4_1_AF_grpmax_joint=0.482482;gnomADv4_1_AF_joint=0.358841;gnomADv4_1_AF_joint_XX=0.359472;gnomADv4_1_AF_joint_XY=0.35818;gnomADv4_1_AN_grpmax_joint=67932;gnomADv4_1_AN_joint=151914;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11682;gnomADv4_1_nhomalt_joint_XX=6035;gnomADv4_1_nhomalt_joint_XY=5647;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28704121 chr22_28704121_GACACAC_G;chr22_28704121_GACACACACACAC_G;chr22_28704121_GAC_G GAC G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=0.308;CADDIndel_Rawscore=-0.315362;CSQ=-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-557_847-556del|||||||rs10565000||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-557_976-556del|||||||rs10565000||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-557_646-556del|||||||rs10565000||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-557_574-556del|||||||rs10565000||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-557_847-556del|||||||rs10565000||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-557_847-556del|||||||rs10565000||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-557_*337-556del|||||||rs10565000||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-557_*144-556del|||||||rs10565000||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-557_184-556del|||||||rs10565000||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-557_*572-556del|||||||rs10565000||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.847-4186_847-4185del|||||||rs10565000||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-557_78-556del|||||||rs10565000||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-557_*144-556del|||||||rs10565000||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-557_*239-556del|||||||rs10565000||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-557_102-556del|||||||rs10565000||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-557_187-556del|||||||rs10565000||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-557_404-556del|||||||rs10565000||-1||HGNC|HGNC:16627|3||||||||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-557_399-556del|||||||rs10565000||-1||HGNC|HGNC:16627|||||||||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-557_184-556del|||||||rs10565000||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-557_847-556del|||||||rs10565000||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-557_847-556del|||||||rs10565000||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||AC|AC||1||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-557_976-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-557_184-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-557_646-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-557_847-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-557_847-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||AC|AC|OK|||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-557_367-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-557_304-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-557_1006-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-557_1006-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-557_676-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-557_1006-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-557_184-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-557_970-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-557_877-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-557_877-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-557_940-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-557_976-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-557_940-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-557_805-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-557_367-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1076-4186_1076-4185del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.919-4186_919-4185del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1077-4186_1077-4185del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1077-4186_1077-4185del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||||||||RefSeq||AC|AC||||chr22:g.28704162_28704163del|||||||||||||;SpliceAI=G|CHEK2|0.00|0.00|0.00|0.00|43|34|43|41;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55841;gnomADv4_1_AC_joint_XX=28906;gnomADv4_1_AC_joint_XY=26935;gnomADv4_1_AF_grpmax_joint=0.468046;gnomADv4_1_AF_joint=0.391669;gnomADv4_1_AF_joint_XX=0.391755;gnomADv4_1_AF_joint_XY=0.391577;gnomADv4_1_AN_grpmax_joint=14020;gnomADv4_1_AN_joint=142572;gnomADv4_1_AN_joint_XX=73786;gnomADv4_1_AN_joint_XY=68786;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=10854;gnomADv4_1_nhomalt_joint_XX=5628;gnomADv4_1_nhomalt_joint_XY=5226;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28704121 chr22_28704121_GACACAC_G;chr22_28704121_GACACACACACAC_G;chr22_28704121_GAC_G GACACAC G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.687;CADDIndel_Rawscore=-0.113506;CSQ=-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-561_847-556del|||||||rs10565000||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-561_976-556del|||||||rs10565000||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-561_646-556del|||||||rs10565000||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-561_574-556del|||||||rs10565000||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-561_847-556del|||||||rs10565000||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-561_847-556del|||||||rs10565000||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-561_*337-556del|||||||rs10565000||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-561_*144-556del|||||||rs10565000||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-561_184-556del|||||||rs10565000||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-561_*572-556del|||||||rs10565000||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.847-4190_847-4185del|||||||rs10565000||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-561_78-556del|||||||rs10565000||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-561_*144-556del|||||||rs10565000||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-561_*239-556del|||||||rs10565000||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-561_102-556del|||||||rs10565000||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-561_187-556del|||||||rs10565000||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-561_404-556del|||||||rs10565000||-1||HGNC|HGNC:16627|3||||||||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-561_399-556del|||||||rs10565000||-1||HGNC|HGNC:16627|||||||||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-561_184-556del|||||||rs10565000||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-561_847-556del|||||||rs10565000||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-561_847-556del|||||||rs10565000||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||ACACAC|ACACAC||1||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-561_976-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-561_184-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-561_646-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-561_847-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-561_847-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||ACACAC|ACACAC|OK|||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-561_367-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-561_304-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-561_1006-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-561_1006-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-561_676-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-561_1006-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-561_184-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-561_970-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-561_877-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-561_877-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-561_940-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-561_976-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-561_940-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-561_805-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-561_367-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1076-4190_1076-4185del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.919-4190_919-4185del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1077-4190_1077-4185del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1077-4190_1077-4185del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||||||||RefSeq||ACACAC|ACACAC||||chr22:g.28704158_28704163del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42506;gnomADv4_1_AC_joint_XX=22259;gnomADv4_1_AC_joint_XY=20247;gnomADv4_1_AF_grpmax_joint=0.388092;gnomADv4_1_AF_joint=0.297607;gnomADv4_1_AF_joint_XX=0.301155;gnomADv4_1_AF_joint_XY=0.293801;gnomADv4_1_AN_grpmax_joint=65554;gnomADv4_1_AN_joint=142826;gnomADv4_1_AN_joint_XX=73912;gnomADv4_1_AN_joint_XY=68914;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6976;gnomADv4_1_nhomalt_joint_XX=3714;gnomADv4_1_nhomalt_joint_XY=3262;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28704121 chr22_28704121_GACACAC_G;chr22_28704121_GACACACACACAC_G;chr22_28704121_GAC_G GACACACACACAC G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.684;CADDIndel_Rawscore=-0.114733;CSQ=-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-567_847-556del|||||||rs10565000||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-567_976-556del|||||||rs10565000||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-567_646-556del|||||||rs10565000||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-567_574-556del|||||||rs10565000||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-567_847-556del|||||||rs10565000||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-567_847-556del|||||||rs10565000||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-567_*337-556del|||||||rs10565000||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-567_*144-556del|||||||rs10565000||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-567_184-556del|||||||rs10565000||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-567_*572-556del|||||||rs10565000||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.847-4196_847-4185del|||||||rs10565000||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-567_78-556del|||||||rs10565000||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-567_*144-556del|||||||rs10565000||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-567_*239-556del|||||||rs10565000||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-567_102-556del|||||||rs10565000||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-567_187-556del|||||||rs10565000||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-567_404-556del|||||||rs10565000||-1||HGNC|HGNC:16627|3||||||||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-567_399-556del|||||||rs10565000||-1||HGNC|HGNC:16627|||||||||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-567_184-556del|||||||rs10565000||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-567_847-556del|||||||rs10565000||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-567_847-556del|||||||rs10565000||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||ACACACACACAC|ACACACACACAC||1||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-567_976-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-567_184-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-567_646-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-567_847-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-567_847-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||ACACACACACAC|ACACACACACAC|OK|||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-567_367-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-567_304-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-567_1006-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-567_1006-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-567_676-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-567_1006-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-567_184-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-567_970-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-567_877-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-567_877-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-567_940-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-567_976-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-567_940-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-567_805-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-567_367-556del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1076-4196_1076-4185del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.919-4196_919-4185del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1077-4196_1077-4185del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1077-4196_1077-4185del|||||||rs10565000||-1||EntrezGene|HGNC:16627|||||||||RefSeq||ACACACACACAC|ACACACACACAC||||chr22:g.28704152_28704163del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=266;gnomADv4_1_AC_joint_XX=160;gnomADv4_1_AC_joint_XY=106;gnomADv4_1_AF_grpmax_joint=0.00245262;gnomADv4_1_AF_joint=0.00185985;gnomADv4_1_AF_joint_XX=0.0021621;gnomADv4_1_AF_joint_XY=0.00153579;gnomADv4_1_AN_grpmax_joint=65644;gnomADv4_1_AN_joint=143022;gnomADv4_1_AN_joint_XX=74002;gnomADv4_1_AN_joint_XY=69020;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28704576 chr22_28704576_A_G A G 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.383;CADD_Rawscore=0.210747;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.847-4639T>C|||||||rs1972202||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-1010T>C|||||||rs1972202||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-1010T>C|||||||rs1972202||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627|3||||||||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627|||||||||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-1010T>C|||||||rs1972202||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-1010T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1076-4639T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.919-4639T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1077-4639T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1077-4639T>C|||||||rs1972202||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28704576A>G|||||||||||||;SpliceAI=G|CHEK2|0.00|0.00|0.00|0.00|-44|6|-44|6;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91328;gnomADv4_1_AC_joint_XX=46433;gnomADv4_1_AC_joint_XY=44895;gnomADv4_1_AF_grpmax_joint=0.7806;gnomADv4_1_AF_joint=0.601309;gnomADv4_1_AF_joint_XX=0.597994;gnomADv4_1_AF_joint_XY=0.604777;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=151882;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74234;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28469;gnomADv4_1_nhomalt_joint_XX=14384;gnomADv4_1_nhomalt_joint_XY=14085;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28704723 chr22_28704723_T_C T C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.344;CADD_Rawscore=-0.287343;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.847-4786A>G|||||||rs1547014||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-1157A>G|||||||rs1547014||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-1157A>G|||||||rs1547014||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627|3||||||||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627|||||||||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-1157A>G|||||||rs1547014||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-1157A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1076-4786A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.919-4786A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1077-4786A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1077-4786A>G|||||||rs1547014||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28704723T>C|||1||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|21|-45|5|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98776;gnomADv4_1_AC_joint_XX=50055;gnomADv4_1_AC_joint_XY=48721;gnomADv4_1_AF_grpmax_joint=0.844294;gnomADv4_1_AF_joint=0.649791;gnomADv4_1_AF_joint_XX=0.644126;gnomADv4_1_AF_joint_XY=0.655716;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=33006;gnomADv4_1_nhomalt_joint_XX=16556;gnomADv4_1_nhomalt_joint_XY=16450;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28704989 chr22_28704989_C_G C G 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.634;CADD_Rawscore=0.332715;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+5017G>C|||||||rs5762752||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-1423G>C|||||||rs5762752||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-1423G>C|||||||rs5762752||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627|3||||||||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627|||||||||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-1423G>C|||||||rs5762752||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||C|C||1||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||C|C|OK|||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-1423G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+5017G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+5017G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+5017G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+5017G>C|||||||rs5762752||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28704989C>G|||1||||||||||;SpliceAI=G|CHEK2|0.01|0.00|0.00|0.00|-14|-8|-39|1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91412;gnomADv4_1_AC_joint_XX=46513;gnomADv4_1_AC_joint_XY=44899;gnomADv4_1_AF_grpmax_joint=0.780249;gnomADv4_1_AF_joint=0.603914;gnomADv4_1_AF_joint_XX=0.600648;gnomADv4_1_AF_joint_XY=0.607334;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=151366;gnomADv4_1_AN_joint_XX=77438;gnomADv4_1_AN_joint_XY=73928;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28490;gnomADv4_1_nhomalt_joint_XX=14419;gnomADv4_1_nhomalt_joint_XY=14071;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28704997 chr22_28704997_G_C G C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.224;CADD_Rawscore=0.034752;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+5009C>G|||||||rs5762753||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-1431C>G|||||||rs5762753||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-1431C>G|||||||rs5762753||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627|3||||||||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-1431C>G|||||||rs5762753||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-1431C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+5009C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+5009C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+5009C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+5009C>G|||||||rs5762753||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28704997G>C|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|20|-22|45|-47;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90848;gnomADv4_1_AC_joint_XX=46255;gnomADv4_1_AC_joint_XY=44593;gnomADv4_1_AF_grpmax_joint=0.780158;gnomADv4_1_AF_joint=0.601794;gnomADv4_1_AF_joint_XX=0.598414;gnomADv4_1_AF_joint_XY=0.60534;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=150962;gnomADv4_1_AN_joint_XX=77296;gnomADv4_1_AN_joint_XY=73666;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28239;gnomADv4_1_nhomalt_joint_XX=14299;gnomADv4_1_nhomalt_joint_XY=13940;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28705078 chr22_28705078_CT_C CT C 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=1.502;CADDIndel_Rawscore=0.088516;CSQ=-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-1513del|||||||rs71866422||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-1513del|||||||rs71866422||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-1513del|||||||rs71866422||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-1513del|||||||rs71866422||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-1513del|||||||rs71866422||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-1513del|||||||rs71866422||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-1513del|||||||rs71866422||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-1513del|||||||rs71866422||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-1513del|||||||rs71866422||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-1513del|||||||rs71866422||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+4927del|||||||rs71866422||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-1513del|||||||rs71866422||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-1513del|||||||rs71866422||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-1513del|||||||rs71866422||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-1513del|||||||rs71866422||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-1513del|||||||rs71866422||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-1513del|||||||rs71866422||-1||HGNC|HGNC:16627|3||||||||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-1513del|||||||rs71866422||-1||HGNC|HGNC:16627|||||||||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-1513del|||||||rs71866422||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-1513del|||||||rs71866422||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-1513del|||||||rs71866422||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-1513del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+4927del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+4927del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+4927del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+4927del|||||||rs71866422||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28705096del|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|-1|46|-36|42;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24400;gnomADv4_1_AC_joint_XX=12560;gnomADv4_1_AC_joint_XY=11840;gnomADv4_1_AF_grpmax_joint=0.359243;gnomADv4_1_AF_joint=0.180926;gnomADv4_1_AF_joint_XX=0.179009;gnomADv4_1_AF_joint_XY=0.183004;gnomADv4_1_AN_grpmax_joint=4490;gnomADv4_1_AN_joint=134862;gnomADv4_1_AN_joint_XX=70164;gnomADv4_1_AN_joint_XY=64698;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1866;gnomADv4_1_nhomalt_joint_XX=923;gnomADv4_1_nhomalt_joint_XY=943;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28705369 chr22_28705369_A_G A G 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.504;CADD_Rawscore=-0.19121;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+4637T>C|||||||rs6005840||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-1803T>C|||||||rs6005840||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-1803T>C|||||||rs6005840||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627|3||||||||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627|||||||||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-1803T>C|||||||rs6005840||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-1803T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+4637T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+4637T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+4637T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+4637T>C|||||||rs6005840||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28705369A>G|||1||||||||||;SpliceAI=G|CHEK2|0.00|0.00|0.00|0.00|35|24|-16|50;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=102235;gnomADv4_1_AC_joint_XX=51913;gnomADv4_1_AC_joint_XY=50322;gnomADv4_1_AF_grpmax_joint=0.839929;gnomADv4_1_AF_joint=0.674;gnomADv4_1_AF_joint_XX=0.669258;gnomADv4_1_AF_joint_XY=0.678963;gnomADv4_1_AN_grpmax_joint=5104;gnomADv4_1_AN_joint=151684;gnomADv4_1_AN_joint_XX=77568;gnomADv4_1_AN_joint_XY=74116;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34975;gnomADv4_1_nhomalt_joint_XX=17594;gnomADv4_1_nhomalt_joint_XY=17381;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28705612 chr22_28705612_A_G A G 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=5.333;CADD_Rawscore=0.487466;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+4394T>C|||||||rs6519761||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-2046T>C|||||||rs6519761||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-2046T>C|||||||rs6519761||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627|3||||||||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627|||||||||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-2046T>C|||||||rs6519761||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-2046T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+4394T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+4394T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+4394T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+4394T>C|||||||rs6519761||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28705612A>G|||||||||||||;SpliceAI=G|CHEK2|0.00|0.00|0.00|0.00|-22|-16|-9|4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29170;gnomADv4_1_AC_joint_XX=14550;gnomADv4_1_AC_joint_XY=14620;gnomADv4_1_AF_grpmax_joint=0.389126;gnomADv4_1_AF_joint=0.191852;gnomADv4_1_AF_joint_XX=0.18721;gnomADv4_1_AF_joint_XY=0.196706;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3057;gnomADv4_1_nhomalt_joint_XX=1446;gnomADv4_1_nhomalt_joint_XY=1611;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28705841 chr22_28705841_G_A G A 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.844;CADD_Rawscore=0.14238;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+4165C>T|||||||rs28483387||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-2275C>T|||||||rs28483387||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-2275C>T|||||||rs28483387||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627|3||||||||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-2275C>T|||||||rs28483387||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-2275C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+4165C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+4165C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+4165C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+4165C>T|||||||rs28483387||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28705841G>A|||||||||||||;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|49|8|8|-40;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29158;gnomADv4_1_AC_joint_XX=14552;gnomADv4_1_AC_joint_XY=14606;gnomADv4_1_AF_grpmax_joint=0.387505;gnomADv4_1_AF_joint=0.191948;gnomADv4_1_AF_joint_XX=0.187309;gnomADv4_1_AF_joint_XY=0.196804;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=151906;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74216;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3061;gnomADv4_1_nhomalt_joint_XX=1447;gnomADv4_1_nhomalt_joint_XY=1614;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28705968 chr22_28705968_A_AAAACTAAACT;chr22_28705968_A_AAAACTAAACTAAACT A AAAACTAAACT 46 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.52;CADDIndel_Rawscore=-0.183415;CSQ=AAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-2412_847-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-2412_976-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-2412_646-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-2412_574-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-2412_847-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-2412_847-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-2412_*337-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-2412_*144-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-2412_184-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-2412_*572-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+4028_846+4037dup|||||||rs60257889||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-2412_78-2403dup|||||||rs60257889||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-2412_*144-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-2412_*239-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-2412_102-2403dup|||||||rs60257889||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-2412_187-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-2412_404-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|3||||||||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-2412_399-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|||||||||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-2412_184-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-2412_847-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-2412_847-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-2412_976-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-2412_184-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-2412_646-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-2412_847-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-2412_847-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-2412_367-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-2412_304-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-2412_1006-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-2412_1006-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-2412_676-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-2412_1006-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-2412_184-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-2412_970-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-2412_877-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-2412_877-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-2412_940-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-2412_976-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-2412_940-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-2412_805-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-2412_367-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+4028_1075+4037dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+4028_918+4037dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+4028_1076+4037dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||,AAACTAAACT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+4028_1076+4037dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28705992_28706001dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT,AAACTAAACT;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=86494;gnomADv4_1_AC_joint_XX=45125;gnomADv4_1_AC_joint_XY=41369;gnomADv4_1_AF_grpmax_joint=0.675375;gnomADv4_1_AF_joint=0.587332;gnomADv4_1_AF_joint_XX=0.594924;gnomADv4_1_AF_joint_XY=0.579268;gnomADv4_1_AN_grpmax_joint=67290;gnomADv4_1_AN_joint=147266;gnomADv4_1_AN_joint_XX=75850;gnomADv4_1_AN_joint_XY=71416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26313;gnomADv4_1_nhomalt_joint_XX=13854;gnomADv4_1_nhomalt_joint_XY=12459;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 28705968 chr22_28705968_A_AAAACTAAACT;chr22_28705968_A_AAAACTAAACTAAACT A AAAACTAAACTAAACT 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=26;CADDIndel_PHREDscore=0.476;CADDIndel_Rawscore=-0.20542;CSQ=AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-2417_847-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-2417_976-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-2417_646-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-2417_574-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-2417_847-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-2417_847-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-2417_*337-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-2417_*144-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-2417_184-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-2417_*572-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+4023_846+4037dup|||||||rs60257889||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-2417_78-2403dup|||||||rs60257889||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-2417_*144-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-2417_*239-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-2417_102-2403dup|||||||rs60257889||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-2417_187-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-2417_404-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|3||||||||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-2417_399-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|||||||||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-2417_184-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-2417_847-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-2417_847-2403dup|||||||rs60257889||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-2417_976-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-2417_184-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-2417_646-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-2417_847-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-2417_847-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-2417_367-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-2417_304-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-2417_1006-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-2417_1006-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-2417_676-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-2417_1006-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-2417_184-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-2417_970-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-2417_877-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-2417_877-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-2417_940-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-2417_976-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-2417_940-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-2417_805-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-2417_367-2403dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+4023_1075+4037dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+4023_918+4037dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+4023_1076+4037dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||,AAACTAAACTAAACT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+4023_1076+4037dup|||||||rs60257889||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28705987_28706001dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT,AAACTAAACTAAACT;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46559;gnomADv4_1_AC_joint_XX=23584;gnomADv4_1_AC_joint_XY=22975;gnomADv4_1_AF_grpmax_joint=0.425753;gnomADv4_1_AF_joint=0.316203;gnomADv4_1_AF_joint_XX=0.310995;gnomADv4_1_AF_joint_XY=0.321734;gnomADv4_1_AN_grpmax_joint=4916;gnomADv4_1_AN_joint=147244;gnomADv4_1_AN_joint_XX=75834;gnomADv4_1_AN_joint_XY=71410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7726;gnomADv4_1_nhomalt_joint_XX=3809;gnomADv4_1_nhomalt_joint_XY=3917;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28706129 chr22_28706129_T_C T C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.102;CADD_Rawscore=-0.604871;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+3877A>G|||||||rs4490290||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-2563A>G|||||||rs4490290||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-2563A>G|||||||rs4490290||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627|3||||||||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627|||||||||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-2563A>G|||||||rs4490290||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-2563A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+3877A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+3877A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+3877A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+3877A>G|||||||rs4490290||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28706129T>C|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|47|-2|0|47;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91945;gnomADv4_1_AC_joint_XX=46748;gnomADv4_1_AC_joint_XY=45197;gnomADv4_1_AF_grpmax_joint=0.779759;gnomADv4_1_AF_joint=0.60581;gnomADv4_1_AF_joint_XX=0.602407;gnomADv4_1_AF_joint_XY=0.60937;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=151772;gnomADv4_1_AN_joint_XX=77602;gnomADv4_1_AN_joint_XY=74170;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28719;gnomADv4_1_nhomalt_joint_XX=14511;gnomADv4_1_nhomalt_joint_XY=14208;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28706298 chr22_28706298_TCA_T;chr22_28706298_TCACACA_T TCA T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=0.542;CADDIndel_Rawscore=-0.173188;CSQ=-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-2734_847-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-2734_976-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-2734_646-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-2734_574-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-2734_847-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-2734_847-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-2734_*337-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-2734_*144-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-2734_184-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-2734_*572-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+3706_846+3707del|||||||rs113795955||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-2734_78-2733del|||||||rs113795955||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-2734_*144-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-2734_*239-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-2734_102-2733del|||||||rs113795955||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-2734_187-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-2734_404-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|3||||||||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-2734_399-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|||||||||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-2734_184-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-2734_847-2733del|||||||rs113795955||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-2734_847-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||CA|CA||1||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-2734_976-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-2734_184-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-2734_646-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-2734_847-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-2734_847-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||CA|CA|OK|||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-2734_367-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-2734_304-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-2734_1006-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-2734_1006-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-2734_676-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-2734_1006-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-2734_184-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-2734_970-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-2734_877-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-2734_877-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-2734_940-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-2734_976-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-2734_940-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-2734_805-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-2734_367-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+3706_1075+3707del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+3706_918+3707del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+3706_1076+3707del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+3706_1076+3707del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||||||||RefSeq||CA|CA||||chr22:g.28706329_28706330del|||||||||||||;SpliceAI=T|CHEK2|0.00|0.00|0.00|0.00|-25|-8|-25|-38;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46528;gnomADv4_1_AC_joint_XX=24166;gnomADv4_1_AC_joint_XY=22362;gnomADv4_1_AF_grpmax_joint=0.421986;gnomADv4_1_AF_joint=0.315102;gnomADv4_1_AF_joint_XX=0.318712;gnomADv4_1_AF_joint_XY=0.311292;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=147660;gnomADv4_1_AN_joint_XX=75824;gnomADv4_1_AN_joint_XY=71836;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7950;gnomADv4_1_nhomalt_joint_XX=4187;gnomADv4_1_nhomalt_joint_XY=3763;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28706298 chr22_28706298_TCA_T;chr22_28706298_TCACACA_T TCACACA T 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=34;CADDIndel_PHREDscore=0.523;CADDIndel_Rawscore=-0.181858;CSQ=-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-2738_847-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-2738_976-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-2738_646-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-2738_574-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-2738_847-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-2738_847-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-2738_*337-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-2738_*144-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-2738_184-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-2738_*572-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+3702_846+3707del|||||||rs113795955||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-2738_78-2733del|||||||rs113795955||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-2738_*144-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-2738_*239-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-2738_102-2733del|||||||rs113795955||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-2738_187-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-2738_404-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|3||||||||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-2738_399-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|||||||||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-2738_184-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-2738_847-2733del|||||||rs113795955||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-2738_847-2733del|||||||rs113795955||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||CACACA|CACACA||1||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-2738_976-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-2738_184-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-2738_646-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-2738_847-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-2738_847-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||CACACA|CACACA|OK|||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-2738_367-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-2738_304-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-2738_1006-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-2738_1006-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-2738_676-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-2738_1006-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-2738_184-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-2738_970-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-2738_877-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-2738_877-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-2738_940-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-2738_976-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-2738_940-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-2738_805-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-2738_367-2733del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+3702_1075+3707del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+3702_918+3707del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+3702_1076+3707del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+3702_1076+3707del|||||||rs113795955||-1||EntrezGene|HGNC:16627|||||||||RefSeq||CACACA|CACACA||||chr22:g.28706325_28706330del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27855;gnomADv4_1_AC_joint_XX=13942;gnomADv4_1_AC_joint_XY=13913;gnomADv4_1_AF_grpmax_joint=0.382164;gnomADv4_1_AF_joint=0.188408;gnomADv4_1_AF_joint_XX=0.183694;gnomADv4_1_AF_joint_XY=0.193381;gnomADv4_1_AN_grpmax_joint=4990;gnomADv4_1_AN_joint=147844;gnomADv4_1_AN_joint_XX=75898;gnomADv4_1_AN_joint_XY=71946;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2760;gnomADv4_1_nhomalt_joint_XX=1321;gnomADv4_1_nhomalt_joint_XY=1439;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28706347 chr22_28706347_A_T A T 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=9.898;CADD_Rawscore=0.962649;CSQ=T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.847-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.976-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.646-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.574-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.847-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.847-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*337-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*144-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.184-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*572-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+3659T>A|||||||rs1076807||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.78-2781T>A|||||||rs1076807||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*144-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*239-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.102-2781T>A|||||||rs1076807||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.187-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.404-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627|3||||||||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.399-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627|||||||||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.184-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.847-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.847-2781T>A|||||||rs1076807||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.976-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.184-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.646-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.847-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.847-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.367-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.304-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1006-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1006-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.676-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1006-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.184-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.970-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.877-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.877-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.940-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.976-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.940-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.805-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.367-2781T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+3659T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+3659T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+3659T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+3659T>A|||||||rs1076807||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28706347A>T|||||||||||||;SpliceAI=T|CHEK2|0.00|0.00|0.00|0.00|-2|24|-2|23;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13530;gnomADv4_1_AC_joint_XX=6723;gnomADv4_1_AC_joint_XY=6807;gnomADv4_1_AF_grpmax_joint=0.174419;gnomADv4_1_AF_joint=0.0889628;gnomADv4_1_AF_joint_XX=0.0864784;gnomADv4_1_AF_joint_XY=0.0915609;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152086;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=745;gnomADv4_1_nhomalt_joint_XX=344;gnomADv4_1_nhomalt_joint_XY=401;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28706979 chr22_28706979_G_A G A 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.554;CADD_Rawscore=0.325521;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.846+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.975+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.645+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.573+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.846+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.846+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*336+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*143+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.183+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*571+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.77+3027C>T|||||||rs743184||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs743184|4930|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*143+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*238+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.101+3027C>T|||||||rs743184||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.186+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.403+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|3||||||||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.398+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.183+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.846+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.846+3027C>T|||||||rs743184||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.975+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.183+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.645+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.846+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.846+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.366+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.303+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1005+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1005+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.675+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1005+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.183+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.969+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.876+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.876+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.939+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.975+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.939+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.804+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.366+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+3027C>T|||||||rs743184||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28706979G>A|||||||||||||;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|21|18|-16|5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91259;gnomADv4_1_AC_joint_XX=46384;gnomADv4_1_AC_joint_XY=44875;gnomADv4_1_AF_grpmax_joint=0.779552;gnomADv4_1_AF_joint=0.60027;gnomADv4_1_AF_joint_XX=0.596947;gnomADv4_1_AF_joint_XY=0.603743;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152030;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28407;gnomADv4_1_nhomalt_joint_XX=14350;gnomADv4_1_nhomalt_joint_XY=14057;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28707229 chr22_28707229_G_A G A 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=10.54;CADD_Rawscore=1.01852;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.846+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.975+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.645+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.573+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.846+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.846+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*336+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*143+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.183+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*571+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.77+2777C>T|||||||rs743185||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs743185|4680|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*143+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*238+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.101+2777C>T|||||||rs743185||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.186+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.403+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|3||||||||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.398+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.183+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.846+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.846+2777C>T|||||||rs743185||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.975+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.183+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.645+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.846+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.846+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.366+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.303+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1005+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1005+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.675+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1005+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.183+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.969+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.876+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.876+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.939+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.975+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.939+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.804+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.366+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+2777C>T|||||||rs743185||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28707229G>A|||1||||||||||;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|28|-3|21|-25;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29182;gnomADv4_1_AC_joint_XX=14563;gnomADv4_1_AC_joint_XY=14619;gnomADv4_1_AF_grpmax_joint=0.387684;gnomADv4_1_AF_joint=0.191876;gnomADv4_1_AF_joint_XX=0.187354;gnomADv4_1_AF_joint_XY=0.196603;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3053;gnomADv4_1_nhomalt_joint_XX=1446;gnomADv4_1_nhomalt_joint_XY=1607;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28707830 chr22_28707830_C_CT C CT 17 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=17;CADDIndel_PHREDscore=2.949;CADDIndel_Rawscore=0.269516;CSQ=T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.846+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.975+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.645+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.573+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.846+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.846+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*336+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*143+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.183+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*571+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.77+2175dup|||||||rs11453597||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs11453597|4078|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*143+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*238+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.101+2175dup|||||||rs11453597||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.186+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.403+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|3||||||||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.398+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|||||||||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.183+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.846+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.846+2175dup|||||||rs11453597||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.975+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.183+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.645+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.846+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.846+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.366+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.303+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1005+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1005+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.675+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1005+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.183+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.969+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.876+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.876+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.939+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.975+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.939+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.804+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.366+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+2175dup|||||||rs11453597||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28707852dup|||||||||||||;SpliceAI=CT|CHEK2|0.00|0.00|0.00|0.00|-39|-19|-21|-33;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52839;gnomADv4_1_AC_joint_XX=29116;gnomADv4_1_AC_joint_XY=23723;gnomADv4_1_AF_grpmax_joint=0.699717;gnomADv4_1_AF_joint=0.514088;gnomADv4_1_AF_joint_XX=0.517085;gnomADv4_1_AF_joint_XY=0.510457;gnomADv4_1_AN_grpmax_joint=2824;gnomADv4_1_AN_joint=102782;gnomADv4_1_AN_joint_XX=56308;gnomADv4_1_AN_joint_XY=46474;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=15106;gnomADv4_1_nhomalt_joint_XX=8284;gnomADv4_1_nhomalt_joint_XY=6822;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28708361 chr22_28708361_A_ATGTGTGTGTGTG;chr22_28708361_A_ATG A ATGTGTGTGTGTG 33 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=33;CADDIndel_PHREDscore=0.124;CADDIndel_Rawscore=-0.554332;CSQ=TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.846+1644_846+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.975+1644_975+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.645+1644_645+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.573+1644_573+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.846+1644_846+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.846+1644_846+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*336+1644_*336+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*143+1644_*143+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.183+1644_183+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*571+1644_*571+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+1644_846+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.77+1644_77+1645insCACACACACACA|||||||rs200869651||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs200869651|3547|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*143+1644_*143+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*238+1644_*238+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.101+1644_101+1645insCACACACACACA|||||||rs200869651||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.186+1644_186+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.403+1644_403+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|3||||||||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.398+1644_398+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|||||||||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.183+1644_183+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.846+1644_846+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.846+1644_846+1645insCACACACACACA|||||||rs200869651||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.975+1644_975+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.183+1644_183+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.645+1644_645+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.846+1644_846+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.846+1644_846+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.366+1644_366+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.303+1644_303+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1005+1644_1005+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1005+1644_1005+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.675+1644_675+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1005+1644_1005+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.183+1644_183+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.969+1644_969+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.876+1644_876+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.876+1644_876+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.939+1644_939+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.975+1644_975+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.939+1644_939+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.804+1644_804+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.366+1644_366+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+1644_1075+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+1644_918+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+1644_1076+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+1644_1076+1645insCACACACACACA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28708362_28708363insGTGTGTGTGTGT|||||||||||||;TYPE=INDEL;VEP_Allele=TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTG;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4606;gnomADv4_1_AC_joint_XX=2460;gnomADv4_1_AC_joint_XY=2146;gnomADv4_1_AF_grpmax_joint=0.0782609;gnomADv4_1_AF_joint=0.0442187;gnomADv4_1_AF_joint_XX=0.0456333;gnomADv4_1_AF_joint_XY=0.0427014;gnomADv4_1_AN_grpmax_joint=230;gnomADv4_1_AN_joint=104164;gnomADv4_1_AN_joint_XX=53908;gnomADv4_1_AN_joint_XY=50256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=123;gnomADv4_1_nhomalt_joint_XX=59;gnomADv4_1_nhomalt_joint_XY=64;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28708361 chr22_28708361_A_ATGTGTGTGTGTG;chr22_28708361_A_ATG A ATG 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=29;CADDIndel_PHREDscore=0.144;CADDIndel_Rawscore=-0.513791;CSQ=TG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.846+1644_846+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.975+1644_975+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.645+1644_645+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.573+1644_573+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.846+1644_846+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.846+1644_846+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*336+1644_*336+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*143+1644_*143+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.183+1644_183+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*571+1644_*571+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+1644_846+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.77+1644_77+1645insCA|||||||rs200869651||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs200869651|3547|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*143+1644_*143+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*238+1644_*238+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.101+1644_101+1645insCA|||||||rs200869651||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.186+1644_186+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.403+1644_403+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|3||||||||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.398+1644_398+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|||||||||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.183+1644_183+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.846+1644_846+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.846+1644_846+1645insCA|||||||rs200869651||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.975+1644_975+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.183+1644_183+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.645+1644_645+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.846+1644_846+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.846+1644_846+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.366+1644_366+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.303+1644_303+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1005+1644_1005+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1005+1644_1005+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.675+1644_675+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1005+1644_1005+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.183+1644_183+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.969+1644_969+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.876+1644_876+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.876+1644_876+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.939+1644_939+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.975+1644_975+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.939+1644_939+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.804+1644_804+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.366+1644_366+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+1644_1075+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+1644_918+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+1644_1076+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+1644_1076+1645insCA|||||||rs200869651||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28708362_28708363insGT|||||||||||||;TYPE=INDEL;VEP_Allele=TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=160;gnomADv4_1_AC_joint_XX=95;gnomADv4_1_AC_joint_XY=65;gnomADv4_1_AF_grpmax_joint=0.00283447;gnomADv4_1_AF_joint=0.00153189;gnomADv4_1_AF_joint_XX=0.00175718;gnomADv4_1_AF_joint_XY=0.00129014;gnomADv4_1_AN_grpmax_joint=3528;gnomADv4_1_AN_joint=104446;gnomADv4_1_AN_joint_XX=54064;gnomADv4_1_AN_joint_XY=50382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28708363 chr22_28708363_A_G;chr22_28708363_A_GTGTGTGTGTG A G 30 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=30;CADD_PHREDscore=0.33;CADD_Rawscore=-0.297408;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.846+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.975+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.645+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.573+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.846+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.846+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*336+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*143+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.183+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*571+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.77+1643T>C|||||||rs5762755||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs5762755|3546|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*143+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*238+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.101+1643T>C|||||||rs5762755||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.186+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.403+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|3||||||||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.398+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|||||||||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.183+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.846+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.846+1643T>C|||||||rs5762755||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.975+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.183+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.645+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.846+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.846+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.366+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.303+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1005+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1005+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.675+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1005+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.183+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.969+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.876+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.876+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.939+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.975+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.939+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.804+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.366+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+1643T>C|||||||rs5762755||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28708363A>G|||||||||||||;SpliceAI=G|CHEK2|0.00|0.00|0.00|0.00|-33|-15|30|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40211;gnomADv4_1_AC_joint_XX=21041;gnomADv4_1_AC_joint_XY=19170;gnomADv4_1_AF_grpmax_joint=0.405571;gnomADv4_1_AF_joint=0.287809;gnomADv4_1_AF_joint_XX=0.290798;gnomADv4_1_AF_joint_XY=0.284599;gnomADv4_1_AN_grpmax_joint=4236;gnomADv4_1_AN_joint=139714;gnomADv4_1_AN_joint_XX=72356;gnomADv4_1_AN_joint_XY=67358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=7093;gnomADv4_1_nhomalt_joint_XX=3737;gnomADv4_1_nhomalt_joint_XY=3356;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28708363 chr22_28708363_A_G;chr22_28708363_A_GTGTGTGTGTG A GTGTGTGTGTG 30 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=25;CSQ=GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.846+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.975+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.645+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.573+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.846+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.846+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*336+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*143+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.183+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*571+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.77+1643delinsCACACACACAC|||||||||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding|||||||||||3546|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*143+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*238+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.101+1643delinsCACACACACAC|||||||||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.186+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.403+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|3||||||||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.398+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|||||||||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.183+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.846+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.846+1643delinsCACACACACAC|||||||||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.975+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.183+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.645+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.846+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.846+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.366+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.303+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1005+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1005+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.675+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1005+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.183+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.969+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.876+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.876+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.939+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.975+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.939+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.804+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.366+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||,GTGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+1643delinsCACACACACAC|||||||||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28708363delinsGTGTGTGTGTG|||||||||||||;TYPE=OTHER;VEP_Allele=GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTG;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=.;gnomADv4_1_AC_joint_XX=.;gnomADv4_1_AC_joint_XY=.;gnomADv4_1_AF_grpmax_joint=.;gnomADv4_1_AF_joint=.;gnomADv4_1_AF_joint_XX=.;gnomADv4_1_AF_joint_XY=.;gnomADv4_1_AN_grpmax_joint=.;gnomADv4_1_AN_joint=139668;gnomADv4_1_AN_joint_XX=72400;gnomADv4_1_AN_joint_XY=67268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=.;gnomADv4_1_nhomalt_joint=.;gnomADv4_1_nhomalt_joint_XX=.;gnomADv4_1_nhomalt_joint_XY=.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28708952 chr22_28708952_CAA_C CAA C 48 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=2.158;CADDIndel_Rawscore=0.184091;CSQ=-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.846+1052_846+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.975+1052_975+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.645+1052_645+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.573+1052_573+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.846+1052_846+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.846+1052_846+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*336+1052_*336+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*143+1052_*143+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.183+1052_183+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*571+1052_*571+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+1052_846+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.77+1052_77+1053del|||||||rs374623367||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs374623367|2955|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*143+1052_*143+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*238+1052_*238+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.101+1052_101+1053del|||||||rs374623367||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.186+1052_186+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.403+1052_403+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|3||||||||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.398+1052_398+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|||||||||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.183+1052_183+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.846+1052_846+1053del|||||||rs374623367||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.846+1052_846+1053del|||||||rs374623367||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||AA|AA||1||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.975+1052_975+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.183+1052_183+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.645+1052_645+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.846+1052_846+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.846+1052_846+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||AA|AA|OK|||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.366+1052_366+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.303+1052_303+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1005+1052_1005+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1005+1052_1005+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.675+1052_675+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1005+1052_1005+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.183+1052_183+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.969+1052_969+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.876+1052_876+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.876+1052_876+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.939+1052_939+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.975+1052_975+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.939+1052_939+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.804+1052_804+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.366+1052_366+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+1052_1075+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+1052_918+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+1052_1076+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+1052_1076+1053del|||||||rs374623367||-1||EntrezGene|HGNC:16627|||||||||RefSeq||AA|AA||||chr22:g.28708973_28708974del|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|31|-3|28|3;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=193677;gnomADv4_1_AC_joint_XX=88607;gnomADv4_1_AC_joint_XY=105070;gnomADv4_1_AF_grpmax_joint=0.685786;gnomADv4_1_AF_joint=0.588863;gnomADv4_1_AF_joint_XX=0.596295;gnomADv4_1_AF_joint_XY=0.582738;gnomADv4_1_AN_grpmax_joint=10356;gnomADv4_1_AN_joint=328900;gnomADv4_1_AN_joint_XX=148596;gnomADv4_1_AN_joint_XY=180304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=42523;gnomADv4_1_nhomalt_joint_XX=20509;gnomADv4_1_nhomalt_joint_XY=22014;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28708967 chr22_28708967_A_C A C 50 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=2.732;CADD_Rawscore=0.248092;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.846+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.975+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.645+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.573+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.846+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.846+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*336+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*143+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.183+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*571+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.77+1039T>G|||||||rs5762756||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs5762756|2942|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*143+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*238+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.101+1039T>G|||||||rs5762756||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.186+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.403+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|3||||||||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.398+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|||||||||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.183+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.846+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.846+1039T>G|||||||rs5762756||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.975+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.183+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.645+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.846+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.846+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.366+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.303+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1005+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1005+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.675+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1005+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.183+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.969+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.876+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.876+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.939+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.975+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.939+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.804+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.366+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+1039T>G|||||||rs5762756||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28708967A>C|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|-18|-16|24|13;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=253275;gnomADv4_1_AC_joint_XX=112452;gnomADv4_1_AC_joint_XY=140823;gnomADv4_1_AF_grpmax_joint=0.764272;gnomADv4_1_AF_joint=0.630922;gnomADv4_1_AF_joint_XX=0.617651;gnomADv4_1_AF_joint_XY=0.641937;gnomADv4_1_AN_grpmax_joint=12192;gnomADv4_1_AN_joint=401436;gnomADv4_1_AN_joint_XX=182064;gnomADv4_1_AN_joint_XY=219372;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=82908;gnomADv4_1_nhomalt_joint_XX=36039;gnomADv4_1_nhomalt_joint_XY=46869;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28708971 chr22_28708971_A_C A C 48 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=2.572;CADD_Rawscore=0.231475;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.846+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.975+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.645+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.573+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.846+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.846+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*336+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*143+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.183+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*571+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.77+1035T>G|||||||rs5762757||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs5762757|2938|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*143+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*238+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.101+1035T>G|||||||rs5762757||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.186+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.403+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|3||||||||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.398+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|||||||||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.183+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.846+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.846+1035T>G|||||||rs5762757||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.975+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.183+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.645+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.846+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.846+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.366+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.303+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1005+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1005+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.675+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1005+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.183+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.969+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.876+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.876+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.939+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.975+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.939+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.804+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.366+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+1035T>G|||||||rs5762757||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28708971A>C|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|-22|7|5|9;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=259820;gnomADv4_1_AC_joint_XX=115351;gnomADv4_1_AC_joint_XY=144469;gnomADv4_1_AF_grpmax_joint=0.770638;gnomADv4_1_AF_joint=0.64523;gnomADv4_1_AF_joint_XX=0.631756;gnomADv4_1_AF_joint_XY=0.656409;gnomADv4_1_AN_grpmax_joint=12186;gnomADv4_1_AN_joint=402678;gnomADv4_1_AN_joint_XX=182588;gnomADv4_1_AN_joint_XY=220090;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=86874;gnomADv4_1_nhomalt_joint_XX=37775;gnomADv4_1_nhomalt_joint_XY=49099;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28709427 chr22_28709427_G_C G C 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.134;CADD_Rawscore=0.181138;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.846+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.975+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.645+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.573+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.846+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.846+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*336+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*143+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.183+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*571+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.77+579C>G|||||||rs5752773||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs5752773|2482|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*143+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*238+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.101+579C>G|||||||rs5752773||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.186+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.403+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|3||||||||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.398+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.183+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.846+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.846+579C>G|||||||rs5752773||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.975+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.183+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.645+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.846+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.846+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.366+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.303+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1005+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1005+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.675+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1005+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.183+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.969+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.876+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.876+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.939+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.975+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.939+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.804+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.366+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+579C>G|||||||rs5752773||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28709427G>C|||1||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|-1|-26|0|19;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98657;gnomADv4_1_AC_joint_XX=49987;gnomADv4_1_AC_joint_XY=48670;gnomADv4_1_AF_grpmax_joint=0.840557;gnomADv4_1_AF_joint=0.649153;gnomADv4_1_AF_joint_XX=0.643383;gnomADv4_1_AF_joint_XY=0.655188;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=151978;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32930;gnomADv4_1_nhomalt_joint_XX=16527;gnomADv4_1_nhomalt_joint_XY=16403;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28709570 chr22_28709570_A_G A G 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.207;CADD_Rawscore=0.031035;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.846+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.975+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.645+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.573+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.846+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.846+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*336+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*143+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.183+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*571+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.77+436T>C|||||||rs2073327||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs2073327|2339|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*143+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*238+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.101+436T>C|||||||rs2073327||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.186+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.403+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|3||||||||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.398+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|||||||||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.183+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.846+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.846+436T>C|||||||rs2073327||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.975+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.183+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.645+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.846+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.846+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.366+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.303+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1005+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1005+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.675+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1005+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.183+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.969+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.876+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.876+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.939+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.975+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.939+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.804+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.366+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+436T>C|||||||rs2073327||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28709570A>G|||||||||||||;SpliceAI=G|CHEK2|0.00|0.00|0.00|0.00|-1|-25|-2|39;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44085;gnomADv4_1_AC_joint_XX=21992;gnomADv4_1_AC_joint_XY=22093;gnomADv4_1_AF_grpmax_joint=0.484574;gnomADv4_1_AF_joint=0.289812;gnomADv4_1_AF_joint_XX=0.282797;gnomADv4_1_AF_joint_XY=0.297149;gnomADv4_1_AN_grpmax_joint=5186;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6673;gnomADv4_1_nhomalt_joint_XX=3194;gnomADv4_1_nhomalt_joint_XY=3479;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28709622 chr22_28709622_C_T C T 60 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=2.921;CADD_Rawscore=0.266818;CSQ=T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||7/13|ENST00000348295.7:c.846+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||8/15|ENST00000382580.6:c.975+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||5/12|ENST00000402731.6:c.645+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||4/11|ENST00000403642.5:c.573+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||7/14|ENST00000404276.6:c.846+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||8/15|ENST00000405598.5:c.846+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||8/15|ENST00000416671.5:c.*336+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||5/12|ENST00000417588.5:c.*143+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||6/13|ENST00000425190.7:c.183+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||7/9|ENST00000433028.6:c.*571+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||6/12|ENST00000433728.5:c.846+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||2/9|ENST00000434810.5:c.77+384G>A|||||||rs5752774||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs5752774|2287|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||5/6|ENST00000439346.6:c.*143+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||6/13|ENST00000448511.5:c.*238+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||2/5|ENST00000456369.5:c.101+384G>A|||||||rs5752774||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||3/10|ENST00000464581.6:c.186+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||2/4|ENST00000491919.5:n.403+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|3||||||||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||3/10|ENST00000648295.1:n.398+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|||||||||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||4/11|ENST00000649563.1:c.183+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||8/15|ENST00000650281.1:c.846+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||7/12|ENST00000711048.1:c.846+384G>A|||||||rs5752774||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||C|C||1||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||8/15|NM_001005735.2:c.975+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||8/15|NM_001257387.2:c.183+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||6/13|NM_001349956.2:c.645+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||7/14|NM_007194.4:c.846+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||7/13|NM_145862.2:c.846+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||C|C|OK|||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||3/10|XM_006724114.4:c.366+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||3/10|XM_006724116.3:c.303+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||8/15|XM_011529839.3:c.1005+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||8/14|XM_011529840.4:c.1005+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||6/13|XM_011529842.3:c.675+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||8/10|XM_011529844.3:c.1005+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||6/13|XM_011529845.3:c.183+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||8/15|XM_017028560.2:c.969+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||7/14|XM_024452148.2:c.876+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||7/13|XM_024452149.2:c.876+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||8/15|XM_047441104.1:c.939+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||8/14|XM_047441105.1:c.975+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||8/14|XM_047441106.1:c.939+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||7/14|XM_047441107.1:c.804+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||3/9|XM_047441108.1:c.366+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||8/9|XR_007067954.1:n.1075+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||7/8|XR_007067955.1:n.918+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||8/9|XR_937806.3:n.1076+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||8/9|XR_937807.3:n.1076+384G>A|||||||rs5752774||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28709622C>T|||1||||||||||;SpliceAI=T|CHEK2|0.00|0.00|0.00|0.00|28|-24|28|-38;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=102246;gnomADv4_1_AC_joint_XX=51898;gnomADv4_1_AC_joint_XY=50348;gnomADv4_1_AF_grpmax_joint=0.840039;gnomADv4_1_AF_joint=0.673096;gnomADv4_1_AF_joint_XX=0.66822;gnomADv4_1_AF_joint_XY=0.678197;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=151904;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34920;gnomADv4_1_nhomalt_joint_XX=17561;gnomADv4_1_nhomalt_joint_XY=17359;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28710745 chr22_28710745_T_C T C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=16.92;CADD_Rawscore=2.03679;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||6/13|ENST00000348295.7:c.793-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||7/15|ENST00000382580.6:c.922-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||4/12|ENST00000402731.6:c.592-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||3/11|ENST00000403642.5:c.520-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||6/14|ENST00000404276.6:c.793-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||7/15|ENST00000405598.5:c.793-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||7/15|ENST00000416671.5:c.*283-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||4/12|ENST00000417588.5:c.*90-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||5/13|ENST00000425190.7:c.130-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||6/9|ENST00000433028.6:c.*518-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||5/12|ENST00000433728.5:c.793-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||1/9|ENST00000434810.5:c.24-686A>G|||||||rs1884816||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs1884816|1164|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||4/6|ENST00000439346.6:c.*90-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||5/13|ENST00000448511.5:c.*185-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||1/5|ENST00000456369.5:c.48-686A>G|||||||rs1884816||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||2/10|ENST00000464581.6:c.133-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||1/4|ENST00000491919.5:n.350-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|3||||||||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||2/10|ENST00000648295.1:n.345-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|||||||||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||3/11|ENST00000649563.1:c.130-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||7/15|ENST00000650281.1:c.793-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||6/12|ENST00000711048.1:c.793-686A>G|||||||rs1884816||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||7/15|NM_001005735.2:c.922-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||7/15|NM_001257387.2:c.130-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||5/13|NM_001349956.2:c.592-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||6/14|NM_007194.4:c.793-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||6/13|NM_145862.2:c.793-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||2/10|XM_006724114.4:c.313-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||2/10|XM_006724116.3:c.250-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||7/15|XM_011529839.3:c.952-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||7/14|XM_011529840.4:c.952-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||5/13|XM_011529842.3:c.622-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||7/10|XM_011529844.3:c.952-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||5/13|XM_011529845.3:c.130-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||7/15|XM_017028560.2:c.916-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||6/14|XM_024452148.2:c.823-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||6/13|XM_024452149.2:c.823-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||7/15|XM_047441104.1:c.886-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||7/14|XM_047441105.1:c.922-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||7/14|XM_047441106.1:c.886-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||6/14|XM_047441107.1:c.751-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||2/9|XM_047441108.1:c.313-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||7/9|XR_007067954.1:n.1022-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||6/8|XR_007067955.1:n.865-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||7/9|XR_937806.3:n.1023-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||7/9|XR_937807.3:n.1023-686A>G|||||||rs1884816||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28710745T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4SWT|enhancer||||||||||rs1884816|||||||||||||||||||||chr22:g.28710745T>C|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|4|-49|0|-19;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3,ENSR22_C4SWT;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,.;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32338;gnomADv4_1_AC_joint_XX=16195;gnomADv4_1_AC_joint_XY=16143;gnomADv4_1_AF_grpmax_joint=0.408862;gnomADv4_1_AF_joint=0.212579;gnomADv4_1_AF_joint_XX=0.208258;gnomADv4_1_AF_joint_XY=0.217098;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3736;gnomADv4_1_nhomalt_joint_XX=1772;gnomADv4_1_nhomalt_joint_XY=1964;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28710957 chr22_28710957_G_C G C 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=7.514;CADD_Rawscore=0.714599;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||6/13|ENST00000348295.7:c.793-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||7/15|ENST00000382580.6:c.922-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||4/12|ENST00000402731.6:c.592-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||3/11|ENST00000403642.5:c.520-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||6/14|ENST00000404276.6:c.793-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||7/15|ENST00000405598.5:c.793-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||7/15|ENST00000416671.5:c.*283-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||4/12|ENST00000417588.5:c.*90-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||5/13|ENST00000425190.7:c.130-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||6/9|ENST00000433028.6:c.*518-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||5/12|ENST00000433728.5:c.793-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||1/9|ENST00000434810.5:c.24-898C>G|||||||rs1884817||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs1884817|952|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||4/6|ENST00000439346.6:c.*90-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||5/13|ENST00000448511.5:c.*185-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||1/5|ENST00000456369.5:c.48-898C>G|||||||rs1884817||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||2/10|ENST00000464581.6:c.133-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||1/4|ENST00000491919.5:n.350-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|3||||||||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||2/10|ENST00000648295.1:n.345-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||3/11|ENST00000649563.1:c.130-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||7/15|ENST00000650281.1:c.793-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||6/12|ENST00000711048.1:c.793-898C>G|||||||rs1884817||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||7/15|NM_001005735.2:c.922-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||7/15|NM_001257387.2:c.130-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||5/13|NM_001349956.2:c.592-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||6/14|NM_007194.4:c.793-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||6/13|NM_145862.2:c.793-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||2/10|XM_006724114.4:c.313-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||2/10|XM_006724116.3:c.250-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||7/15|XM_011529839.3:c.952-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||7/14|XM_011529840.4:c.952-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||5/13|XM_011529842.3:c.622-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||7/10|XM_011529844.3:c.952-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||5/13|XM_011529845.3:c.130-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||7/15|XM_017028560.2:c.916-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||6/14|XM_024452148.2:c.823-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||6/13|XM_024452149.2:c.823-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||7/15|XM_047441104.1:c.886-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||7/14|XM_047441105.1:c.922-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||7/14|XM_047441106.1:c.886-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||6/14|XM_047441107.1:c.751-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||2/9|XM_047441108.1:c.313-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||7/9|XR_007067954.1:n.1022-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||6/8|XR_007067955.1:n.865-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||7/9|XR_937806.3:n.1023-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||7/9|XR_937807.3:n.1023-898C>G|||||||rs1884817||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28710957G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4SWT|enhancer||||||||||rs1884817|||||||||||||||||||||chr22:g.28710957G>C|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|18|-5|1|35;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3,ENSR22_C4SWT;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,.;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32324;gnomADv4_1_AC_joint_XX=16177;gnomADv4_1_AC_joint_XY=16147;gnomADv4_1_AF_grpmax_joint=0.408053;gnomADv4_1_AF_joint=0.212714;gnomADv4_1_AF_joint_XX=0.208273;gnomADv4_1_AF_joint_XY=0.217357;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151960;gnomADv4_1_AN_joint_XX=77672;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3733;gnomADv4_1_nhomalt_joint_XX=1769;gnomADv4_1_nhomalt_joint_XY=1964;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28711207 chr22_28711207_G_A G A 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.872;CADD_Rawscore=0.443927;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||6/13|ENST00000348295.7:c.792+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||7/15|ENST00000382580.6:c.921+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||4/12|ENST00000402731.6:c.591+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||3/11|ENST00000403642.5:c.519+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||6/14|ENST00000404276.6:c.792+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||7/15|ENST00000405598.5:c.792+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||7/15|ENST00000416671.5:c.*282+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||4/12|ENST00000417588.5:c.*89+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||5/13|ENST00000425190.7:c.129+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||6/9|ENST00000433028.6:c.*517+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||5/12|ENST00000433728.5:c.792+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||1/9|ENST00000434810.5:c.23+702C>T|||||||rs5752775||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs5752775|702|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||4/6|ENST00000439346.6:c.*89+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||5/13|ENST00000448511.5:c.*184+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||1/5|ENST00000456369.5:c.47+702C>T|||||||rs5752775||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||2/10|ENST00000464581.6:c.132+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||1/4|ENST00000491919.5:n.349+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|3||||||||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||2/10|ENST00000648295.1:n.344+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||3/11|ENST00000649563.1:c.129+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||7/15|ENST00000650281.1:c.792+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||6/12|ENST00000711048.1:c.792+702C>T|||||||rs5752775||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||7/15|NM_001005735.2:c.921+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||7/15|NM_001257387.2:c.129+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||5/13|NM_001349956.2:c.591+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||6/14|NM_007194.4:c.792+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||6/13|NM_145862.2:c.792+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||2/10|XM_006724114.4:c.312+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||2/10|XM_006724116.3:c.249+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||7/15|XM_011529839.3:c.951+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||7/14|XM_011529840.4:c.951+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||5/13|XM_011529842.3:c.621+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||7/10|XM_011529844.3:c.951+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||5/13|XM_011529845.3:c.129+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||7/15|XM_017028560.2:c.915+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||6/14|XM_024452148.2:c.822+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||6/13|XM_024452149.2:c.822+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||7/15|XM_047441104.1:c.885+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||7/14|XM_047441105.1:c.921+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||7/14|XM_047441106.1:c.885+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||6/14|XM_047441107.1:c.750+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||2/9|XM_047441108.1:c.312+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||7/9|XR_007067954.1:n.1021+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||6/8|XR_007067955.1:n.864+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||7/9|XR_937806.3:n.1022+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||7/9|XR_937807.3:n.1022+702C>T|||||||rs5752775||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28711207G>A|||1||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4SWT|enhancer||||||||||rs5752775|||||||||||||||||||||chr22:g.28711207G>A|||1||||||||||;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|-20|20|0|-20;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3,ENSR22_C4SWT;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,.;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98545;gnomADv4_1_AC_joint_XX=49927;gnomADv4_1_AC_joint_XY=48618;gnomADv4_1_AF_grpmax_joint=0.840471;gnomADv4_1_AF_joint=0.648075;gnomADv4_1_AF_joint_XX=0.642131;gnomADv4_1_AF_joint_XY=0.654294;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32858;gnomADv4_1_nhomalt_joint_XX=16483;gnomADv4_1_nhomalt_joint_XY=16375;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28711405 chr22_28711405_C_CA C CA 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.807;CADDIndel_Rawscore=-0.072761;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||6/13|ENST00000348295.7:c.792+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||7/15|ENST00000382580.6:c.921+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||4/12|ENST00000402731.6:c.591+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||3/11|ENST00000403642.5:c.519+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||6/14|ENST00000404276.6:c.792+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||7/15|ENST00000405598.5:c.792+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||7/15|ENST00000416671.5:c.*282+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||4/12|ENST00000417588.5:c.*89+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||5/13|ENST00000425190.7:c.129+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||6/9|ENST00000433028.6:c.*517+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||5/12|ENST00000433728.5:c.792+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||1/9|ENST00000434810.5:c.23+503dup|||||||rs17885505||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs17885505|503|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||4/6|ENST00000439346.6:c.*89+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||5/13|ENST00000448511.5:c.*184+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||1/5|ENST00000456369.5:c.47+503dup|||||||rs17885505||-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||2/10|ENST00000464581.6:c.132+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||1/4|ENST00000491919.5:n.349+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|3||||||||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||2/10|ENST00000648295.1:n.344+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|||||||||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||3/11|ENST00000649563.1:c.129+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||7/15|ENST00000650281.1:c.792+503dup|||||||rs17885505||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||6/12|ENST00000711048.1:c.792+503dup|||||||rs17885505||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||7/15|NM_001005735.2:c.921+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||7/15|NM_001257387.2:c.129+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||5/13|NM_001349956.2:c.591+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||6/14|NM_007194.4:c.792+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||6/13|NM_145862.2:c.792+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||2/10|XM_006724114.4:c.312+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||2/10|XM_006724116.3:c.249+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||7/15|XM_011529839.3:c.951+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||7/14|XM_011529840.4:c.951+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||5/13|XM_011529842.3:c.621+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||7/10|XM_011529844.3:c.951+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||5/13|XM_011529845.3:c.129+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||7/15|XM_017028560.2:c.915+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||6/14|XM_024452148.2:c.822+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||6/13|XM_024452149.2:c.822+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||7/15|XM_047441104.1:c.885+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||7/14|XM_047441105.1:c.921+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||7/14|XM_047441106.1:c.885+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||6/14|XM_047441107.1:c.750+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||2/9|XM_047441108.1:c.312+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||7/9|XR_007067954.1:n.1021+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||6/8|XR_007067955.1:n.864+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||7/9|XR_937806.3:n.1022+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||7/9|XR_937807.3:n.1022+503dup|||||||rs17885505||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28711406dup|||||||||||||;SpliceAI=CA|CHEK2|0.00|0.00|0.00|0.00|-3|36|-24|49;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4273;gnomADv4_1_AC_joint_XX=2271;gnomADv4_1_AC_joint_XY=2002;gnomADv4_1_AF_grpmax_joint=0.0612245;gnomADv4_1_AF_joint=0.0280797;gnomADv4_1_AF_joint_XX=0.0291955;gnomADv4_1_AF_joint_XY=0.0269129;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152174;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=89;gnomADv4_1_nhomalt_joint_XX=49;gnomADv4_1_nhomalt_joint_XY=40;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28712241 chr22_28712241_A_G A G 51 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.174;CADD_Rawscore=-0.463296;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||5/13|ENST00000348295.7:c.684-224T>C|||||||rs5752776||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||6/15|ENST00000382580.6:c.813-224T>C|||||||rs5752776||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.483-224T>C|||||||rs5752776||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||2/11|ENST00000403642.5:c.411-224T>C|||||||rs5752776||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||5/14|ENST00000404276.6:c.684-224T>C|||||||rs5752776||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||6/15|ENST00000405598.5:c.684-224T>C|||||||rs5752776||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||6/15|ENST00000416671.5:c.*174-224T>C|||||||rs5752776||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.593-224T>C|||||||rs5752776||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||4/13|ENST00000425190.7:c.21-224T>C|||||||rs5752776||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||5/9|ENST00000433028.6:c.*409-224T>C|||||||rs5752776||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||4/12|ENST00000433728.5:c.684-224T>C|||||||rs5752776||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||||||||||rs5752776|310|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||6/6|ENST00000439200.5:c.777-224T>C|||||||rs5752776||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.593-224T>C|||||||rs5752776||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||4/13|ENST00000448511.5:c.*76-224T>C|||||||rs5752776||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||||||||||rs5752776|286|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||||||||||rs5752776|95|-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron|1/5||ENST00000491919.5:n.17T>C||17|||||rs5752776||-1||HGNC|HGNC:16627|3||||||||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||1/10|ENST00000648295.1:n.235+20T>C|||||||rs5752776||-1||HGNC|HGNC:16627|||||||||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||2/11|ENST00000649563.1:c.21-224T>C|||||||rs5752776||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||6/15|ENST00000650281.1:c.684-224T>C|||||||rs5752776||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||5/12|ENST00000711048.1:c.684-224T>C|||||||rs5752776||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||6/15|NM_001005735.2:c.813-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||6/15|NM_001257387.2:c.21-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.483-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||5/14|NM_007194.4:c.684-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||5/13|NM_145862.2:c.684-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||1/10|XM_006724114.4:c.203+20T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|missense_variant|MODERATE|CHEK2|11200|Transcript|XM_006724116.3|protein_coding|1/11||XM_006724116.3:c.11T>C|XP_006724179.2:p.Leu4Ser|39|11|4|L/S|tTg/tCg|rs5752776||-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||6/15|XM_011529839.3:c.843-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||6/14|XM_011529840.4:c.843-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.513-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||6/10|XM_011529844.3:c.843-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||4/13|XM_011529845.3:c.21-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||6/15|XM_017028560.2:c.807-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||5/14|XM_024452148.2:c.714-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||5/13|XM_024452149.2:c.714-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||6/15|XM_047441104.1:c.777-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||6/14|XM_047441105.1:c.813-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||6/14|XM_047441106.1:c.777-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.642-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||1/9|XM_047441108.1:c.203+20T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||6/9|XR_007067954.1:n.913-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||5/8|XR_007067955.1:n.756-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||6/9|XR_937806.3:n.914-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||6/9|XR_937807.3:n.914-224T>C|||||||rs5752776||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28712241A>G|benign||1||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FDNZ|promoter||||||||||rs5752776|||||||||||||||||||||chr22:g.28712241A>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.28712241A>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=CHEK2:11200;ClinVar_Variation_ID=1231932;SpliceAI=G|CHEK2|0.00|0.00|0.00|0.00|26|-12|9|20;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3,ENSR22_9FDNZ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,.;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=398145;gnomADv4_1_AC_joint_XX=189218;gnomADv4_1_AC_joint_XY=208927;gnomADv4_1_AF_grpmax_joint=0.859418;gnomADv4_1_AF_joint=0.698966;gnomADv4_1_AF_joint_XX=0.689615;gnomADv4_1_AF_joint_XY=0.707656;gnomADv4_1_AN_grpmax_joint=34286;gnomADv4_1_AN_joint=569620;gnomADv4_1_AN_joint_XX=274382;gnomADv4_1_AN_joint_XY=295238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=141881;gnomADv4_1_nhomalt_joint_XX=66489;gnomADv4_1_nhomalt_joint_XY=75392;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28713048 chr22_28713048_C_T C T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.736;CADD_Rawscore=0.126488;CSQ=T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||5/13|ENST00000348295.7:c.684-1031G>A|||||||rs5762758||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||6/15|ENST00000382580.6:c.813-1031G>A|||||||rs5762758||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.483-1031G>A|||||||rs5762758||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||2/11|ENST00000403642.5:c.411-1031G>A|||||||rs5762758||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||5/14|ENST00000404276.6:c.684-1031G>A|||||||rs5762758||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||6/15|ENST00000405598.5:c.684-1031G>A|||||||rs5762758||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||6/15|ENST00000416671.5:c.*174-1031G>A|||||||rs5762758||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.593-1031G>A|||||||rs5762758||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||4/13|ENST00000425190.7:c.21-1031G>A|||||||rs5762758||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||5/9|ENST00000433028.6:c.*409-1031G>A|||||||rs5762758||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||4/12|ENST00000433728.5:c.684-1031G>A|||||||rs5762758||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||||||||||rs5762758|1117|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||6/6|ENST00000439200.5:c.777-1031G>A|||||||rs5762758||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.593-1031G>A|||||||rs5762758||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||4/13|ENST00000448511.5:c.*76-1031G>A|||||||rs5762758||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||||||||||rs5762758|1093|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||||||||||rs5762758|902|-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||||||||||rs5762758|791|-1||HGNC|HGNC:16627|3||||||||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||||||||||rs5762758|553|-1||HGNC|HGNC:16627|||||||||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||2/11|ENST00000649563.1:c.21-1031G>A|||||||rs5762758||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||6/15|ENST00000650281.1:c.684-1031G>A|||||||rs5762758||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||5/12|ENST00000711048.1:c.684-1031G>A|||||||rs5762758||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||C|C||1||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||6/15|NM_001005735.2:c.813-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||6/15|NM_001257387.2:c.21-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.483-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||5/14|NM_007194.4:c.684-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||5/13|NM_145862.2:c.684-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||C|C|OK|||chr22:g.28713048C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||||||||||rs5762758|564|-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||||||||||rs5762758|769|-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||6/15|XM_011529839.3:c.843-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||6/14|XM_011529840.4:c.843-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.513-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||6/10|XM_011529844.3:c.843-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||4/13|XM_011529845.3:c.21-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||6/15|XM_017028560.2:c.807-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||5/14|XM_024452148.2:c.714-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||5/13|XM_024452149.2:c.714-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||6/15|XM_047441104.1:c.777-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||6/14|XM_047441105.1:c.813-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||6/14|XM_047441106.1:c.777-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.642-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||||||||||rs5762758|564|-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||6/9|XR_007067954.1:n.913-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||5/8|XR_007067955.1:n.756-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||6/9|XR_937806.3:n.914-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||6/9|XR_937807.3:n.914-1031G>A|||||||rs5762758||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28713048C>T|||||||||||||;SpliceAI=T|CHEK2|0.00|0.00|0.00|0.00|35|1|35|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40547;gnomADv4_1_AC_joint_XX=21002;gnomADv4_1_AC_joint_XY=19545;gnomADv4_1_AF_grpmax_joint=0.417808;gnomADv4_1_AF_joint=0.266483;gnomADv4_1_AF_joint_XX=0.269983;gnomADv4_1_AF_joint_XY=0.262822;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6914;gnomADv4_1_nhomalt_joint_XX=3628;gnomADv4_1_nhomalt_joint_XY=3286;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28713421 chr22_28713421_G_A G A 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.58;CADD_Rawscore=0.101794;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||5/13|ENST00000348295.7:c.684-1404C>T|||||||rs28846498||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||6/15|ENST00000382580.6:c.813-1404C>T|||||||rs28846498||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.483-1404C>T|||||||rs28846498||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||2/11|ENST00000403642.5:c.411-1404C>T|||||||rs28846498||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||5/14|ENST00000404276.6:c.684-1404C>T|||||||rs28846498||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||6/15|ENST00000405598.5:c.684-1404C>T|||||||rs28846498||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||6/15|ENST00000416671.5:c.*174-1404C>T|||||||rs28846498||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.593-1404C>T|||||||rs28846498||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||4/13|ENST00000425190.7:c.21-1404C>T|||||||rs28846498||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||5/9|ENST00000433028.6:c.*409-1404C>T|||||||rs28846498||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||4/12|ENST00000433728.5:c.684-1404C>T|||||||rs28846498||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||||||||||rs28846498|1490|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||6/6|ENST00000439200.5:c.777-1404C>T|||||||rs28846498||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.593-1404C>T|||||||rs28846498||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||4/13|ENST00000448511.5:c.*76-1404C>T|||||||rs28846498||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||||||||||rs28846498|1466|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||||||||||rs28846498|1275|-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||||||||||rs28846498|1164|-1||HGNC|HGNC:16627|3||||||||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||||||||||rs28846498|926|-1||HGNC|HGNC:16627|||||||||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||2/11|ENST00000649563.1:c.21-1404C>T|||||||rs28846498||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||6/15|ENST00000650281.1:c.684-1404C>T|||||||rs28846498||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||5/12|ENST00000711048.1:c.684-1404C>T|||||||rs28846498||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||6/15|NM_001005735.2:c.813-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||6/15|NM_001257387.2:c.21-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.483-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||5/14|NM_007194.4:c.684-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||5/13|NM_145862.2:c.684-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28713421G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||||||||||rs28846498|937|-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||||||||||rs28846498|1142|-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||6/15|XM_011529839.3:c.843-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||6/14|XM_011529840.4:c.843-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.513-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||6/10|XM_011529844.3:c.843-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||4/13|XM_011529845.3:c.21-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||6/15|XM_017028560.2:c.807-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||5/14|XM_024452148.2:c.714-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||5/13|XM_024452149.2:c.714-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||6/15|XM_047441104.1:c.777-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||6/14|XM_047441105.1:c.813-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||6/14|XM_047441106.1:c.777-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.642-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||||||||||rs28846498|937|-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||6/9|XR_007067954.1:n.913-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||5/8|XR_007067955.1:n.756-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||6/9|XR_937806.3:n.914-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||6/9|XR_937807.3:n.914-1404C>T|||||||rs28846498||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28713421G>A|||||||||||||;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|15|-16|15|-48;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40071;gnomADv4_1_AC_joint_XX=20814;gnomADv4_1_AC_joint_XY=19257;gnomADv4_1_AF_grpmax_joint=0.442029;gnomADv4_1_AF_joint=0.270856;gnomADv4_1_AF_joint_XX=0.274396;gnomADv4_1_AF_joint_XY=0.267132;gnomADv4_1_AN_grpmax_joint=276;gnomADv4_1_AN_joint=147942;gnomADv4_1_AN_joint_XX=75854;gnomADv4_1_AN_joint_XY=72088;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6818;gnomADv4_1_nhomalt_joint_XX=3586;gnomADv4_1_nhomalt_joint_XY=3232;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28714014 chr22_28714014_T_C T C 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.45;CADD_Rawscore=-0.21929;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||5/13|ENST00000348295.7:c.684-1997A>G|||||||rs5752777||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||6/15|ENST00000382580.6:c.813-1997A>G|||||||rs5752777||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.483-1997A>G|||||||rs5752777||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||2/11|ENST00000403642.5:c.411-1997A>G|||||||rs5752777||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||5/14|ENST00000404276.6:c.684-1997A>G|||||||rs5752777||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||6/15|ENST00000405598.5:c.684-1997A>G|||||||rs5752777||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||6/15|ENST00000416671.5:c.*174-1997A>G|||||||rs5752777||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.593-1997A>G|||||||rs5752777||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||4/13|ENST00000425190.7:c.21-1997A>G|||||||rs5752777||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||5/9|ENST00000433028.6:c.*409-1997A>G|||||||rs5752777||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||4/12|ENST00000433728.5:c.684-1997A>G|||||||rs5752777||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||||||||||rs5752777|2083|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||6/6|ENST00000439200.5:c.777-1997A>G|||||||rs5752777||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.593-1997A>G|||||||rs5752777||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||4/13|ENST00000448511.5:c.*76-1997A>G|||||||rs5752777||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||||||||||rs5752777|2059|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||||||||||rs5752777|1868|-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||||||||||rs5752777|1757|-1||HGNC|HGNC:16627|3||||||||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||||||||||rs5752777|1519|-1||HGNC|HGNC:16627|||||||||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||2/11|ENST00000649563.1:c.21-1997A>G|||||||rs5752777||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||6/15|ENST00000650281.1:c.684-1997A>G|||||||rs5752777||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||5/12|ENST00000711048.1:c.684-1997A>G|||||||rs5752777||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||6/15|NM_001005735.2:c.813-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||6/15|NM_001257387.2:c.21-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.483-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||5/14|NM_007194.4:c.684-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||5/13|NM_145862.2:c.684-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28714014T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||||||||||rs5752777|1530|-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||||||||||rs5752777|1735|-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||6/15|XM_011529839.3:c.843-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||6/14|XM_011529840.4:c.843-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.513-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||6/10|XM_011529844.3:c.843-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||4/13|XM_011529845.3:c.21-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||6/15|XM_017028560.2:c.807-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||5/14|XM_024452148.2:c.714-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||5/13|XM_024452149.2:c.714-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||6/15|XM_047441104.1:c.777-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||6/14|XM_047441105.1:c.813-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||6/14|XM_047441106.1:c.777-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.642-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||||||||||rs5752777|1530|-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||6/9|XR_007067954.1:n.913-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||5/8|XR_007067955.1:n.756-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||6/9|XR_937806.3:n.914-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||6/9|XR_937807.3:n.914-1997A>G|||||||rs5752777||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28714014T>C|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|2|3|1|46;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32326;gnomADv4_1_AC_joint_XX=16196;gnomADv4_1_AC_joint_XY=16130;gnomADv4_1_AF_grpmax_joint=0.408827;gnomADv4_1_AF_joint=0.21245;gnomADv4_1_AF_joint_XX=0.20825;gnomADv4_1_AF_joint_XY=0.216842;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3726;gnomADv4_1_nhomalt_joint_XX=1775;gnomADv4_1_nhomalt_joint_XY=1951;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28714771 chr22_28714771_C_G C G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=13.3;CADD_Rawscore=1.35765;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||5/13|ENST00000348295.7:c.684-2754G>C|||||||rs2078555||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||6/15|ENST00000382580.6:c.813-2754G>C|||||||rs2078555||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.483-2754G>C|||||||rs2078555||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||2/11|ENST00000403642.5:c.411-2754G>C|||||||rs2078555||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||5/14|ENST00000404276.6:c.684-2754G>C|||||||rs2078555||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||6/15|ENST00000405598.5:c.684-2754G>C|||||||rs2078555||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||6/15|ENST00000416671.5:c.*174-2754G>C|||||||rs2078555||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.593-2754G>C|||||||rs2078555||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||4/13|ENST00000425190.7:c.21-2754G>C|||||||rs2078555||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||5/9|ENST00000433028.6:c.*409-2754G>C|||||||rs2078555||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||4/12|ENST00000433728.5:c.684-2754G>C|||||||rs2078555||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||||||||||rs2078555|2840|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||6/6|ENST00000439200.5:c.777-2754G>C|||||||rs2078555||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.593-2754G>C|||||||rs2078555||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||4/13|ENST00000448511.5:c.*76-2754G>C|||||||rs2078555||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||||||||||rs2078555|2816|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||||||||||rs2078555|2625|-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||||||||||rs2078555|2514|-1||HGNC|HGNC:16627|3||||||||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||||||||||rs2078555|2276|-1||HGNC|HGNC:16627|||||||||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||2/11|ENST00000649563.1:c.21-2754G>C|||||||rs2078555||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||6/15|ENST00000650281.1:c.684-2754G>C|||||||rs2078555||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||5/12|ENST00000711048.1:c.684-2754G>C|||||||rs2078555||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||C|C||1||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||6/15|NM_001005735.2:c.813-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||6/15|NM_001257387.2:c.21-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.483-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||5/14|NM_007194.4:c.684-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||5/13|NM_145862.2:c.684-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||C|C|OK|||chr22:g.28714771C>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||||||||||rs2078555|2287|-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||||||||||rs2078555|2492|-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||6/15|XM_011529839.3:c.843-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||6/14|XM_011529840.4:c.843-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.513-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||6/10|XM_011529844.3:c.843-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||4/13|XM_011529845.3:c.21-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||6/15|XM_017028560.2:c.807-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||5/14|XM_024452148.2:c.714-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||5/13|XM_024452149.2:c.714-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||6/15|XM_047441104.1:c.777-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||6/14|XM_047441105.1:c.813-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||6/14|XM_047441106.1:c.777-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.642-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||||||||||rs2078555|2287|-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||6/9|XR_007067954.1:n.913-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||5/8|XR_007067955.1:n.756-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||6/9|XR_937806.3:n.914-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||6/9|XR_937807.3:n.914-2754G>C|||||||rs2078555||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28714771C>G|||1||||||||||;SpliceAI=G|CHEK2|0.00|0.00|0.00|0.00|-2|-34|-2|1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45318;gnomADv4_1_AC_joint_XX=23455;gnomADv4_1_AC_joint_XY=21863;gnomADv4_1_AF_grpmax_joint=0.35019;gnomADv4_1_AF_joint=0.298153;gnomADv4_1_AF_joint_XX=0.301905;gnomADv4_1_AF_joint_XY=0.294229;gnomADv4_1_AN_grpmax_joint=15266;gnomADv4_1_AN_joint=151996;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=7043;gnomADv4_1_nhomalt_joint_XX=3626;gnomADv4_1_nhomalt_joint_XY=3417;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28715397 chr22_28715397_T_TTTTA T TTTTA 46 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.57;CADDIndel_Rawscore=-0.16061;CSQ=TTTA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||5/13|ENST00000348295.7:c.684-3384_684-3381dup|||||||rs3029446||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||6/15|ENST00000382580.6:c.813-3384_813-3381dup|||||||rs3029446||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.483-3384_483-3381dup|||||||rs3029446||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||2/11|ENST00000403642.5:c.411-3384_411-3381dup|||||||rs3029446||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||5/14|ENST00000404276.6:c.684-3384_684-3381dup|||||||rs3029446||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||6/15|ENST00000405598.5:c.684-3384_684-3381dup|||||||rs3029446||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||6/15|ENST00000416671.5:c.*174-3384_*174-3381dup|||||||rs3029446||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.593-3384_593-3381dup|||||||rs3029446||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||4/13|ENST00000425190.7:c.21-3384_21-3381dup|||||||rs3029446||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||5/9|ENST00000433028.6:c.*409-3384_*409-3381dup|||||||rs3029446||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||4/12|ENST00000433728.5:c.684-3384_684-3381dup|||||||rs3029446||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||||||||||rs3029446|3466|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||6/6|ENST00000439200.5:c.777-3384_777-3381dup|||||||rs3029446||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.593-3384_593-3381dup|||||||rs3029446||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||4/13|ENST00000448511.5:c.*76-3384_*76-3381dup|||||||rs3029446||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||||||||||rs3029446|3442|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||||||||||rs3029446|3251|-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||||||||||rs3029446|3140|-1||HGNC|HGNC:16627|3||||||||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||||||||||rs3029446|2902|-1||HGNC|HGNC:16627|||||||||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||2/11|ENST00000649563.1:c.21-3384_21-3381dup|||||||rs3029446||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||6/15|ENST00000650281.1:c.684-3384_684-3381dup|||||||rs3029446||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||5/12|ENST00000711048.1:c.684-3384_684-3381dup|||||||rs3029446||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||6/15|NM_001005735.2:c.813-3384_813-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||6/15|NM_001257387.2:c.21-3384_21-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.483-3384_483-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||5/14|NM_007194.4:c.684-3384_684-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||5/13|NM_145862.2:c.684-3384_684-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28715417_28715420dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||||||||||rs3029446|2913|-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||||||||||rs3029446|3118|-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||6/15|XM_011529839.3:c.843-3384_843-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||6/14|XM_011529840.4:c.843-3384_843-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.513-3384_513-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||6/10|XM_011529844.3:c.843-3384_843-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||4/13|XM_011529845.3:c.21-3384_21-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||6/15|XM_017028560.2:c.807-3384_807-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||5/14|XM_024452148.2:c.714-3384_714-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||5/13|XM_024452149.2:c.714-3384_714-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||6/15|XM_047441104.1:c.777-3384_777-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||6/14|XM_047441105.1:c.813-3384_813-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||6/14|XM_047441106.1:c.777-3384_777-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.642-3384_642-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||||||||||rs3029446|2913|-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||6/9|XR_007067954.1:n.913-3384_913-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||5/8|XR_007067955.1:n.756-3384_756-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||6/9|XR_937806.3:n.914-3384_914-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||,TTTA|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||6/9|XR_937807.3:n.914-3384_914-3381dup|||||||rs3029446||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28715417_28715420dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=93678;gnomADv4_1_AC_joint_XX=47651;gnomADv4_1_AC_joint_XY=46027;gnomADv4_1_AF_grpmax_joint=0.789474;gnomADv4_1_AF_joint=0.628956;gnomADv4_1_AF_joint_XX=0.624325;gnomADv4_1_AF_joint_XY=0.633824;gnomADv4_1_AN_grpmax_joint=4712;gnomADv4_1_AN_joint=148942;gnomADv4_1_AN_joint_XX=76324;gnomADv4_1_AN_joint_XY=72618;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=30111;gnomADv4_1_nhomalt_joint_XX=15158;gnomADv4_1_nhomalt_joint_XY=14953;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28716199 chr22_28716199_CT_C CT C 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.351;CADDIndel_Rawscore=-0.282444;CSQ=-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||5/13|ENST00000348295.7:c.683+3195del|||||||rs202194670||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||6/15|ENST00000382580.6:c.812+3195del|||||||rs202194670||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.483-4183del|||||||rs202194670||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||2/11|ENST00000403642.5:c.410+3195del|||||||rs202194670||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||5/14|ENST00000404276.6:c.683+3195del|||||||rs202194670||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||6/15|ENST00000405598.5:c.683+3195del|||||||rs202194670||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||6/15|ENST00000416671.5:c.*173+3195del|||||||rs202194670||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.593-4183del|||||||rs202194670||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||4/13|ENST00000425190.7:c.20+3195del|||||||rs202194670||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||5/9|ENST00000433028.6:c.*408+3195del|||||||rs202194670||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||4/12|ENST00000433728.5:c.683+3195del|||||||rs202194670||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000434810|protein_coding||||||||||rs202194670|4269|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000416721||H0Y820.67|UPI000161103D|||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||6/6|ENST00000439200.5:c.776+3195del|||||||rs202194670||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.593-4183del|||||||rs202194670||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||4/13|ENST00000448511.5:c.*75+3195del|||||||rs202194670||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000456369|protein_coding||||||||||rs202194670|4245|-1|cds_start_NF|HGNC|HGNC:16627|3||ENSP00000394430||H0Y4V6.62|UPI000161103E|||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000464581|protein_coding||||||||||rs202194670|4054|-1||HGNC|HGNC:16627|2||ENSP00000483777||A0A087X102.50|UPI0000E25A55|||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000491919|retained_intron||||||||||rs202194670|3943|-1||HGNC|HGNC:16627|3||||||||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000648295|protein_coding_CDS_not_defined||||||||||rs202194670|3705|-1||HGNC|HGNC:16627|||||||||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||2/11|ENST00000649563.1:c.20+3195del|||||||rs202194670||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||6/15|ENST00000650281.1:c.683+3195del|||||||rs202194670||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||5/12|ENST00000711048.1:c.683+3195del|||||||rs202194670||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||6/15|NM_001005735.2:c.812+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||6/15|NM_001257387.2:c.20+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.483-4183del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||5/14|NM_007194.4:c.683+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||5/13|NM_145862.2:c.683+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28716214del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724114.4|protein_coding||||||||||rs202194670|3716|-1||EntrezGene|HGNC:16627|||XP_006724177.3||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_006724116.3|protein_coding||||||||||rs202194670|3921|-1||EntrezGene|HGNC:16627|||XP_006724179.2||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||6/15|XM_011529839.3:c.842+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||6/14|XM_011529840.4:c.842+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.513-4183del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||6/10|XM_011529844.3:c.842+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||4/13|XM_011529845.3:c.20+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||6/15|XM_017028560.2:c.806+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||5/14|XM_024452148.2:c.713+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||5/13|XM_024452149.2:c.713+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||6/15|XM_047441104.1:c.776+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||6/14|XM_047441105.1:c.812+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||6/14|XM_047441106.1:c.776+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.642-4183del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441108.1|protein_coding||||||||||rs202194670|3716|-1||EntrezGene|HGNC:16627|||XP_047297064.1||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||6/9|XR_007067954.1:n.912+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||5/8|XR_007067955.1:n.755+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||6/9|XR_937806.3:n.913+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||6/9|XR_937807.3:n.913+3195del|||||||rs202194670||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28716214del|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|6|13|26|31;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000434810,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000456369,ENST00000464581,ENST00000491919,ENST00000648295,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_006724114.4,XM_006724116.3,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XM_047441108.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48273;gnomADv4_1_AC_joint_XX=25464;gnomADv4_1_AC_joint_XY=22809;gnomADv4_1_AF_grpmax_joint=0.458599;gnomADv4_1_AF_joint=0.355173;gnomADv4_1_AF_joint_XX=0.361859;gnomADv4_1_AF_joint_XY=0.347995;gnomADv4_1_AN_grpmax_joint=36062;gnomADv4_1_AN_joint=135914;gnomADv4_1_AN_joint_XX=70370;gnomADv4_1_AN_joint_XY=65544;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8515;gnomADv4_1_nhomalt_joint_XX=4515;gnomADv4_1_nhomalt_joint_XY=4000;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28718883 chr22_28718883_A_AACAC;chr22_28718883_A_AAC;chr22_28718883_AACAC_A AACAC A 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.458;CADDIndel_Rawscore=-0.215264;CSQ=-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||5/13|ENST00000348295.7:c.683+508_683+511del|||||||rs144577000||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||ACAC|ACAC||1||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||6/15|ENST00000382580.6:c.812+508_812+511del|||||||rs144577000||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||ACAC|ACAC||1||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.482+5999_482+6002del|||||||rs144577000||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||ACAC|ACAC||1||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||2/11|ENST00000403642.5:c.410+508_410+511del|||||||rs144577000||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||ACAC|ACAC||1||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||5/14|ENST00000404276.6:c.683+508_683+511del|||||||rs144577000||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||ACAC|ACAC||1||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||6/15|ENST00000405598.5:c.683+508_683+511del|||||||rs144577000||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||ACAC|ACAC||1||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||6/15|ENST00000416671.5:c.*173+508_*173+511del|||||||rs144577000||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||ACAC|ACAC||1||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.592+6090_592+6093del|||||||rs144577000||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||ACAC|ACAC||1||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||4/13|ENST00000425190.7:c.20+508_20+511del|||||||rs144577000||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||ACAC|ACAC||1||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||5/9|ENST00000433028.6:c.*408+508_*408+511del|||||||rs144577000||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||ACAC|ACAC||1||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||4/12|ENST00000433728.5:c.683+508_683+511del|||||||rs144577000||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||ACAC|ACAC||1||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||6/6|ENST00000439200.5:c.776+508_776+511del|||||||rs144577000||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||ACAC|ACAC||1||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.592+6090_592+6093del|||||||rs144577000||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||ACAC|ACAC||1||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||4/13|ENST00000448511.5:c.*75+508_*75+511del|||||||rs144577000||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||ACAC|ACAC||1||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||2/11|ENST00000649563.1:c.20+508_20+511del|||||||rs144577000||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||ACAC|ACAC||1||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||6/15|ENST00000650281.1:c.683+508_683+511del|||||||rs144577000||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||ACAC|ACAC||1||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||5/12|ENST00000711048.1:c.683+508_683+511del|||||||rs144577000||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||ACAC|ACAC||1||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||6/15|NM_001005735.2:c.812+508_812+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||6/15|NM_001257387.2:c.20+508_20+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.482+5999_482+6002del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||5/14|NM_007194.4:c.683+508_683+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||5/13|NM_145862.2:c.683+508_683+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||ACAC|ACAC|OK|||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||6/15|XM_011529839.3:c.842+508_842+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||6/14|XM_011529840.4:c.842+508_842+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.512+5999_512+6002del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||6/10|XM_011529844.3:c.842+508_842+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||4/13|XM_011529845.3:c.20+508_20+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||6/15|XM_017028560.2:c.806+508_806+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||5/14|XM_024452148.2:c.713+508_713+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||5/13|XM_024452149.2:c.713+508_713+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||6/15|XM_047441104.1:c.776+508_776+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||6/14|XM_047441105.1:c.812+508_812+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||6/14|XM_047441106.1:c.776+508_776+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.641+5999_641+6002del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||6/9|XR_007067954.1:n.912+508_912+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||5/8|XR_007067955.1:n.755+508_755+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||6/9|XR_937806.3:n.913+508_913+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||6/9|XR_937807.3:n.913+508_913+511del|||||||rs144577000||-1||EntrezGene|HGNC:16627|||||||||RefSeq||ACAC|ACAC||||chr22:g.28718919_28718922del|||||||||||||;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|-29|-3|7|-42;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34041;gnomADv4_1_AC_joint_XX=17556;gnomADv4_1_AC_joint_XY=16485;gnomADv4_1_AF_grpmax_joint=0.277688;gnomADv4_1_AF_joint=0.242699;gnomADv4_1_AF_joint_XX=0.241174;gnomADv4_1_AF_joint_XY=0.244345;gnomADv4_1_AN_grpmax_joint=13652;gnomADv4_1_AN_joint=140260;gnomADv4_1_AN_joint_XX=72794;gnomADv4_1_AN_joint_XY=67466;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4074;gnomADv4_1_nhomalt_joint_XX=2077;gnomADv4_1_nhomalt_joint_XY=1997;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28718883 chr22_28718883_A_AACAC;chr22_28718883_A_AAC;chr22_28718883_AACAC_A A AACAC 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.457;CADDIndel_Rawscore=-0.215445;CSQ=ACAC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||5/13|ENST00000348295.7:c.683+508_683+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||6/15|ENST00000382580.6:c.812+508_812+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.482+5999_482+6002dup|||||||rs144577000||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||2/11|ENST00000403642.5:c.410+508_410+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||5/14|ENST00000404276.6:c.683+508_683+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||6/15|ENST00000405598.5:c.683+508_683+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||6/15|ENST00000416671.5:c.*173+508_*173+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.592+6090_592+6093dup|||||||rs144577000||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||4/13|ENST00000425190.7:c.20+508_20+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||5/9|ENST00000433028.6:c.*408+508_*408+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||4/12|ENST00000433728.5:c.683+508_683+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||6/6|ENST00000439200.5:c.776+508_776+511dup|||||||rs144577000||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl|||||1||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.592+6090_592+6093dup|||||||rs144577000||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||4/13|ENST00000448511.5:c.*75+508_*75+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||2/11|ENST00000649563.1:c.20+508_20+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||6/15|ENST00000650281.1:c.683+508_683+511dup|||||||rs144577000||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||5/12|ENST00000711048.1:c.683+508_683+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||6/15|NM_001005735.2:c.812+508_812+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||6/15|NM_001257387.2:c.20+508_20+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.482+5999_482+6002dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||5/14|NM_007194.4:c.683+508_683+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||5/13|NM_145862.2:c.683+508_683+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||6/15|XM_011529839.3:c.842+508_842+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||6/14|XM_011529840.4:c.842+508_842+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.512+5999_512+6002dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||6/10|XM_011529844.3:c.842+508_842+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||4/13|XM_011529845.3:c.20+508_20+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||6/15|XM_017028560.2:c.806+508_806+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||5/14|XM_024452148.2:c.713+508_713+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||5/13|XM_024452149.2:c.713+508_713+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||6/15|XM_047441104.1:c.776+508_776+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||6/14|XM_047441105.1:c.812+508_812+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||6/14|XM_047441106.1:c.776+508_776+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.641+5999_641+6002dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||6/9|XR_007067954.1:n.912+508_912+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||5/8|XR_007067955.1:n.755+508_755+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||6/9|XR_937806.3:n.913+508_913+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||,ACAC|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||6/9|XR_937807.3:n.913+508_913+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28718919_28718922dup|||||||||||||;TYPE=INDEL;VEP_Allele=ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14043;gnomADv4_1_AC_joint_XX=7530;gnomADv4_1_AC_joint_XY=6513;gnomADv4_1_AF_grpmax_joint=0.178322;gnomADv4_1_AF_joint=0.100027;gnomADv4_1_AF_joint_XX=0.103335;gnomADv4_1_AF_joint_XY=0.0964575;gnomADv4_1_AN_grpmax_joint=286;gnomADv4_1_AN_joint=140392;gnomADv4_1_AN_joint_XX=72870;gnomADv4_1_AN_joint_XY=67522;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=821;gnomADv4_1_nhomalt_joint_XX=448;gnomADv4_1_nhomalt_joint_XY=373;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28718883 chr22_28718883_A_AACAC;chr22_28718883_A_AAC;chr22_28718883_AACAC_A A AAC 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.471;CADDIndel_Rawscore=-0.208172;CSQ=AC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||5/13|ENST00000348295.7:c.683+510_683+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||6/15|ENST00000382580.6:c.812+510_812+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.482+6001_482+6002dup|||||||rs144577000||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||2/11|ENST00000403642.5:c.410+510_410+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||5/14|ENST00000404276.6:c.683+510_683+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||6/15|ENST00000405598.5:c.683+510_683+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||6/15|ENST00000416671.5:c.*173+510_*173+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.592+6092_592+6093dup|||||||rs144577000||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||4/13|ENST00000425190.7:c.20+510_20+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||5/9|ENST00000433028.6:c.*408+510_*408+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||4/12|ENST00000433728.5:c.683+510_683+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||6/6|ENST00000439200.5:c.776+510_776+511dup|||||||rs144577000||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl|||||1||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.592+6092_592+6093dup|||||||rs144577000||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||4/13|ENST00000448511.5:c.*75+510_*75+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||2/11|ENST00000649563.1:c.20+510_20+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||6/15|ENST00000650281.1:c.683+510_683+511dup|||||||rs144577000||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||5/12|ENST00000711048.1:c.683+510_683+511dup|||||||rs144577000||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||6/15|NM_001005735.2:c.812+510_812+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||6/15|NM_001257387.2:c.20+510_20+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.482+6001_482+6002dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||5/14|NM_007194.4:c.683+510_683+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||5/13|NM_145862.2:c.683+510_683+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||6/15|XM_011529839.3:c.842+510_842+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||6/14|XM_011529840.4:c.842+510_842+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.512+6001_512+6002dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||6/10|XM_011529844.3:c.842+510_842+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||4/13|XM_011529845.3:c.20+510_20+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||6/15|XM_017028560.2:c.806+510_806+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||5/14|XM_024452148.2:c.713+510_713+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||5/13|XM_024452149.2:c.713+510_713+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||6/15|XM_047441104.1:c.776+510_776+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||6/14|XM_047441105.1:c.812+510_812+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||6/14|XM_047441106.1:c.776+510_776+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.641+6001_641+6002dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||6/9|XR_007067954.1:n.912+510_912+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||5/8|XR_007067955.1:n.755+510_755+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||6/9|XR_937806.3:n.913+510_913+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||6/9|XR_937807.3:n.913+510_913+511dup|||||||rs144577000||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28718921_28718922dup|||||||||||||;TYPE=INDEL;VEP_Allele=AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25371;gnomADv4_1_AC_joint_XX=13074;gnomADv4_1_AC_joint_XY=12297;gnomADv4_1_AF_grpmax_joint=0.2208;gnomADv4_1_AF_joint=0.180811;gnomADv4_1_AF_joint_XX=0.179499;gnomADv4_1_AF_joint_XY=0.182226;gnomADv4_1_AN_grpmax_joint=65222;gnomADv4_1_AN_joint=140318;gnomADv4_1_AN_joint_XX=72836;gnomADv4_1_AN_joint_XY=67482;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2463;gnomADv4_1_nhomalt_joint_XX=1272;gnomADv4_1_nhomalt_joint_XY=1191;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28719078 chr22_28719078_C_T C T 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.123;CADD_Rawscore=0.012209;CSQ=T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||5/13|ENST00000348295.7:c.683+317G>A|||||||rs4822983||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||C|C||1||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||6/15|ENST00000382580.6:c.812+317G>A|||||||rs4822983||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||C|C||1||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.482+5808G>A|||||||rs4822983||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||C|C||1||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||2/11|ENST00000403642.5:c.410+317G>A|||||||rs4822983||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||C|C||1||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||5/14|ENST00000404276.6:c.683+317G>A|||||||rs4822983||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||6/15|ENST00000405598.5:c.683+317G>A|||||||rs4822983||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28719078C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||6/15|ENST00000416671.5:c.*173+317G>A|||||||rs4822983||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||C|C||1||chr22:g.28719078C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.592+5899G>A|||||||rs4822983||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||4/13|ENST00000425190.7:c.20+317G>A|||||||rs4822983||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28719078C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||5/9|ENST00000433028.6:c.*408+317G>A|||||||rs4822983||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||C|C||1||chr22:g.28719078C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||4/12|ENST00000433728.5:c.683+317G>A|||||||rs4822983||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||C|C||1||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||6/6|ENST00000439200.5:c.776+317G>A|||||||rs4822983||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||C|C||1||chr22:g.28719078C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.592+5899G>A|||||||rs4822983||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28719078C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||4/13|ENST00000448511.5:c.*75+317G>A|||||||rs4822983||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||C|C||1||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||2/11|ENST00000649563.1:c.20+317G>A|||||||rs4822983||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||6/15|ENST00000650281.1:c.683+317G>A|||||||rs4822983||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28719078C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||5/12|ENST00000711048.1:c.683+317G>A|||||||rs4822983||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||C|C||1||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||6/15|NM_001005735.2:c.812+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||6/15|NM_001257387.2:c.20+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.482+5808G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||5/14|NM_007194.4:c.683+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||5/13|NM_145862.2:c.683+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||C|C|OK|||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||6/15|XM_011529839.3:c.842+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||6/14|XM_011529840.4:c.842+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.512+5808G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||6/10|XM_011529844.3:c.842+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||4/13|XM_011529845.3:c.20+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||6/15|XM_017028560.2:c.806+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||5/14|XM_024452148.2:c.713+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||5/13|XM_024452149.2:c.713+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||6/15|XM_047441104.1:c.776+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||6/14|XM_047441105.1:c.812+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||6/14|XM_047441106.1:c.776+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.641+5808G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||6/9|XR_007067954.1:n.912+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||5/8|XR_007067955.1:n.755+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||6/9|XR_937806.3:n.913+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||6/9|XR_937807.3:n.913+317G>A|||||||rs4822983||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28719078C>T|||1||||||||||;SpliceAI=T|CHEK2|0.00|0.00|0.00|0.00|-21|-19|3|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000649563,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49451;gnomADv4_1_AC_joint_XX=25681;gnomADv4_1_AC_joint_XY=23770;gnomADv4_1_AF_grpmax_joint=0.414928;gnomADv4_1_AF_joint=0.325756;gnomADv4_1_AF_joint_XX=0.330753;gnomADv4_1_AF_joint_XY=0.320523;gnomADv4_1_AN_grpmax_joint=41400;gnomADv4_1_AN_joint=151804;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74160;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8587;gnomADv4_1_nhomalt_joint_XX=4479;gnomADv4_1_nhomalt_joint_XY=4108;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28720092 chr22_28720092_A_ATT;chr22_28720092_AT_A;chr22_28720092_A_AT AT A 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADDIndel_PHREDscore=0.33;CADDIndel_Rawscore=-0.297545;CSQ=-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||4/13|ENST00000348295.7:c.593-608del|||||||rs66862903||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||5/15|ENST00000382580.6:c.722-608del|||||||rs66862903||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||||||||||rs66862903|4990|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.482+4793del|||||||rs66862903||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.320-608del|||||||rs66862903||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||4/14|ENST00000404276.6:c.593-608del|||||||rs66862903||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||5/15|ENST00000405598.5:c.593-608del|||||||rs66862903||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||5/15|ENST00000416671.5:c.*83-608del|||||||rs66862903||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.592+4884del|||||||rs66862903||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||3/13|ENST00000425190.7:c.-71-608del|||||||rs66862903||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||4/9|ENST00000433028.6:c.*318-608del|||||||rs66862903||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||3/12|ENST00000433728.5:c.593-608del|||||||rs66862903||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||5/6|ENST00000439200.5:c.686-608del|||||||rs66862903||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.592+4884del|||||||rs66862903||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||3/13|ENST00000448511.5:c.483-608del|||||||rs66862903||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||||||||||rs66862903|4872|-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-608del|||||||rs66862903||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||||||||||rs66862903|4948|-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||5/15|ENST00000650281.1:c.593-608del|||||||rs66862903||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||4/12|ENST00000711048.1:c.593-608del|||||||rs66862903||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||5/15|NM_001005735.2:c.722-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||5/15|NM_001257387.2:c.-71-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.482+4793del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||4/14|NM_007194.4:c.593-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||4/13|NM_145862.2:c.593-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||5/15|XM_011529839.3:c.752-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||5/14|XM_011529840.4:c.752-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.512+4793del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||5/10|XM_011529844.3:c.752-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||3/13|XM_011529845.3:c.-71-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||5/15|XM_017028560.2:c.716-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||4/14|XM_024452148.2:c.623-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||4/13|XM_024452149.2:c.623-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||5/15|XM_047441104.1:c.686-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||5/14|XM_047441105.1:c.722-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||5/14|XM_047441106.1:c.686-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.641+4793del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||5/9|XR_007067954.1:n.822-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||4/8|XR_007067955.1:n.665-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||5/9|XR_937806.3:n.823-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||5/9|XR_937807.3:n.823-608del|||||||rs66862903||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28720110del|||||||||||||;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|6|-14|11|12;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28207;gnomADv4_1_AC_joint_XX=14428;gnomADv4_1_AC_joint_XY=13779;gnomADv4_1_AF_grpmax_joint=0.387251;gnomADv4_1_AF_joint=0.210161;gnomADv4_1_AF_joint_XX=0.204606;gnomADv4_1_AF_joint_XY=0.216311;gnomADv4_1_AN_grpmax_joint=4612;gnomADv4_1_AN_joint=134216;gnomADv4_1_AN_joint_XX=70516;gnomADv4_1_AN_joint_XY=63700;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2676;gnomADv4_1_nhomalt_joint_XX=1302;gnomADv4_1_nhomalt_joint_XY=1374;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28720092 chr22_28720092_A_ATT;chr22_28720092_AT_A;chr22_28720092_A_AT A AT 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=28;CADDIndel_PHREDscore=0.68;CADDIndel_Rawscore=-0.116052;CSQ=T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||4/13|ENST00000348295.7:c.593-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||5/15|ENST00000382580.6:c.722-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||||||||||rs66862903|4990|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.482+4793dup|||||||rs66862903||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.320-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||4/14|ENST00000404276.6:c.593-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||5/15|ENST00000405598.5:c.593-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||5/15|ENST00000416671.5:c.*83-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.592+4884dup|||||||rs66862903||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||3/13|ENST00000425190.7:c.-71-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||4/9|ENST00000433028.6:c.*318-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||3/12|ENST00000433728.5:c.593-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||5/6|ENST00000439200.5:c.686-608dup|||||||rs66862903||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.592+4884dup|||||||rs66862903||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||3/13|ENST00000448511.5:c.483-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||||||||||rs66862903|4872|-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||||||||||rs66862903|4948|-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||5/15|ENST00000650281.1:c.593-608dup|||||||rs66862903||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||4/12|ENST00000711048.1:c.593-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||5/15|NM_001005735.2:c.722-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||5/15|NM_001257387.2:c.-71-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.482+4793dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||4/14|NM_007194.4:c.593-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||4/13|NM_145862.2:c.593-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||5/15|XM_011529839.3:c.752-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||5/14|XM_011529840.4:c.752-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.512+4793dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||5/10|XM_011529844.3:c.752-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||3/13|XM_011529845.3:c.-71-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||5/15|XM_017028560.2:c.716-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||4/14|XM_024452148.2:c.623-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||4/13|XM_024452149.2:c.623-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||5/15|XM_047441104.1:c.686-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||5/14|XM_047441105.1:c.722-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||5/14|XM_047441106.1:c.686-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.641+4793dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||5/9|XR_007067954.1:n.822-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||4/8|XR_007067955.1:n.665-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||5/9|XR_937806.3:n.823-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||5/9|XR_937807.3:n.823-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28720110dup|||||||||||||;SpliceAI=AT|CHEK2|0.00|0.00|0.00|0.00|-20|-14|16|32;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39525;gnomADv4_1_AC_joint_XX=21056;gnomADv4_1_AC_joint_XY=18469;gnomADv4_1_AF_grpmax_joint=0.350111;gnomADv4_1_AF_joint=0.294111;gnomADv4_1_AF_joint_XX=0.298066;gnomADv4_1_AF_joint_XY=0.289728;gnomADv4_1_AN_grpmax_joint=12576;gnomADv4_1_AN_joint=134388;gnomADv4_1_AN_joint_XX=70642;gnomADv4_1_AN_joint_XY=63746;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=6272;gnomADv4_1_nhomalt_joint_XX=3348;gnomADv4_1_nhomalt_joint_XY=2924;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28720092 chr22_28720092_A_ATT;chr22_28720092_AT_A;chr22_28720092_A_AT A ATT 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.638;CADDIndel_Rawscore=-0.132251;CSQ=TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||4/13|ENST00000348295.7:c.593-609_593-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||5/15|ENST00000382580.6:c.722-609_722-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||||||||||rs66862903|4990|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.482+4792_482+4793dup|||||||rs66862903||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.320-609_320-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||4/14|ENST00000404276.6:c.593-609_593-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||5/15|ENST00000405598.5:c.593-609_593-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||5/15|ENST00000416671.5:c.*83-609_*83-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.592+4883_592+4884dup|||||||rs66862903||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||3/13|ENST00000425190.7:c.-71-609_-71-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||4/9|ENST00000433028.6:c.*318-609_*318-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||3/12|ENST00000433728.5:c.593-609_593-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||5/6|ENST00000439200.5:c.686-609_686-608dup|||||||rs66862903||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.592+4883_592+4884dup|||||||rs66862903||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||3/13|ENST00000448511.5:c.483-609_483-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||||||||||rs66862903|4872|-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-609_-71-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||||||||||rs66862903|4948|-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||5/15|ENST00000650281.1:c.593-609_593-608dup|||||||rs66862903||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||4/12|ENST00000711048.1:c.593-609_593-608dup|||||||rs66862903||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||5/15|NM_001005735.2:c.722-609_722-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||5/15|NM_001257387.2:c.-71-609_-71-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.482+4792_482+4793dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||4/14|NM_007194.4:c.593-609_593-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||4/13|NM_145862.2:c.593-609_593-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||5/15|XM_011529839.3:c.752-609_752-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||5/14|XM_011529840.4:c.752-609_752-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.512+4792_512+4793dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||5/10|XM_011529844.3:c.752-609_752-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||3/13|XM_011529845.3:c.-71-609_-71-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||5/15|XM_017028560.2:c.716-609_716-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||4/14|XM_024452148.2:c.623-609_623-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||4/13|XM_024452149.2:c.623-609_623-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||5/15|XM_047441104.1:c.686-609_686-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||5/14|XM_047441105.1:c.722-609_722-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||5/14|XM_047441106.1:c.686-609_686-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.641+4792_641+4793dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||5/9|XR_007067954.1:n.822-609_822-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||4/8|XR_007067955.1:n.665-609_665-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||5/9|XR_937806.3:n.823-609_823-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||5/9|XR_937807.3:n.823-609_823-608dup|||||||rs66862903||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28720109_28720110dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35696;gnomADv4_1_AC_joint_XX=19220;gnomADv4_1_AC_joint_XY=16476;gnomADv4_1_AF_grpmax_joint=0.385827;gnomADv4_1_AF_joint=0.265631;gnomADv4_1_AF_joint_XX=0.272038;gnomADv4_1_AF_joint_XY=0.258528;gnomADv4_1_AN_grpmax_joint=254;gnomADv4_1_AN_joint=134382;gnomADv4_1_AN_joint_XX=70652;gnomADv4_1_AN_joint_XY=63730;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6280;gnomADv4_1_nhomalt_joint_XX=3436;gnomADv4_1_nhomalt_joint_XY=2844;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28722339 chr22_28722339_G_A G A 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.719;CADD_Rawscore=0.429868;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||4/13|ENST00000348295.7:c.592+2638C>T|||||||rs9613665||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||5/15|ENST00000382580.6:c.721+2638C>T|||||||rs9613665||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||||||||||rs9613665|2744|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.482+2547C>T|||||||rs9613665||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.320-2854C>T|||||||rs9613665||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||4/14|ENST00000404276.6:c.592+2638C>T|||||||rs9613665||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||5/15|ENST00000405598.5:c.592+2638C>T|||||||rs9613665||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||4/15|ENST00000416671.5:c.593-708C>T|||||||rs9613665||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.592+2638C>T|||||||rs9613665||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||3/13|ENST00000425190.7:c.-72+2638C>T|||||||rs9613665||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||4/9|ENST00000433028.6:c.*317+2226C>T|||||||rs9613665||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||3/12|ENST00000433728.5:c.592+2638C>T|||||||rs9613665||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||5/6|ENST00000439200.5:c.685+2638C>T|||||||rs9613665||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.592+2638C>T|||||||rs9613665||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||3/13|ENST00000448511.5:c.482+2547C>T|||||||rs9613665||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||||||||||rs9613665|2626|-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-2854C>T|||||||rs9613665||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||||||||||rs9613665|2702|-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||5/15|ENST00000650281.1:c.592+2638C>T|||||||rs9613665||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||4/12|ENST00000711048.1:c.592+2638C>T|||||||rs9613665||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||5/15|NM_001005735.2:c.721+2638C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||4/15|NM_001257387.2:c.-185-708C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.482+2547C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||4/14|NM_007194.4:c.592+2638C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||4/13|NM_145862.2:c.592+2638C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||5/15|XM_011529839.3:c.751+2638C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||5/14|XM_011529840.4:c.751+2638C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.512+2547C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||5/10|XM_011529844.3:c.751+2638C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||3/13|XM_011529845.3:c.-72+2638C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||5/15|XM_017028560.2:c.715+2638C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||4/14|XM_024452148.2:c.622+2638C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||4/13|XM_024452149.2:c.622+2638C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||5/15|XM_047441104.1:c.685+2638C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||5/14|XM_047441105.1:c.721+2638C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||5/14|XM_047441106.1:c.685+2638C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.641+2547C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||5/9|XR_007067954.1:n.821+2638C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||4/8|XR_007067955.1:n.664+2638C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||5/9|XR_937806.3:n.822+2638C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||5/9|XR_937807.3:n.822+2638C>T|||||||rs9613665||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28722339G>A|||||||||||||;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|7|32|16|3;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=86715;gnomADv4_1_AC_joint_XX=44149;gnomADv4_1_AC_joint_XY=42566;gnomADv4_1_AF_grpmax_joint=0.741573;gnomADv4_1_AF_joint=0.57252;gnomADv4_1_AF_joint_XX=0.569782;gnomADv4_1_AF_joint_XY=0.575387;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=151462;gnomADv4_1_AN_joint_XX=77484;gnomADv4_1_AN_joint_XY=73978;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=25756;gnomADv4_1_nhomalt_joint_XX=13000;gnomADv4_1_nhomalt_joint_XY=12756;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28722539 chr22_28722539_CA_C CA C 15 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=15;CADDIndel_PHREDscore=2.201;CADDIndel_Rawscore=0.18941;CSQ=-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||4/13|ENST00000348295.7:c.592+2437del|||||||rs755107963||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||5/15|ENST00000382580.6:c.721+2437del|||||||rs755107963||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||||||||||rs755107963|2543|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.482+2346del|||||||rs755107963||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.320-3055del|||||||rs755107963||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||4/14|ENST00000404276.6:c.592+2437del|||||||rs755107963||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||5/15|ENST00000405598.5:c.592+2437del|||||||rs755107963||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||4/15|ENST00000416671.5:c.593-909del|||||||rs755107963||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.592+2437del|||||||rs755107963||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||3/13|ENST00000425190.7:c.-72+2437del|||||||rs755107963||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||4/9|ENST00000433028.6:c.*317+2025del|||||||rs755107963||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||3/12|ENST00000433728.5:c.592+2437del|||||||rs755107963||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||5/6|ENST00000439200.5:c.685+2437del|||||||rs755107963||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.592+2437del|||||||rs755107963||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||3/13|ENST00000448511.5:c.482+2346del|||||||rs755107963||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||||||||||rs755107963|2425|-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-3055del|||||||rs755107963||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||||||||||rs755107963|2501|-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||5/15|ENST00000650281.1:c.592+2437del|||||||rs755107963||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||4/12|ENST00000711048.1:c.592+2437del|||||||rs755107963||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||5/15|NM_001005735.2:c.721+2437del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||4/15|NM_001257387.2:c.-185-909del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.482+2346del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||4/14|NM_007194.4:c.592+2437del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||4/13|NM_145862.2:c.592+2437del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||5/15|XM_011529839.3:c.751+2437del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||5/14|XM_011529840.4:c.751+2437del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.512+2346del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||5/10|XM_011529844.3:c.751+2437del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||3/13|XM_011529845.3:c.-72+2437del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||5/15|XM_017028560.2:c.715+2437del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||4/14|XM_024452148.2:c.622+2437del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||4/13|XM_024452149.2:c.622+2437del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||5/15|XM_047441104.1:c.685+2437del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||5/14|XM_047441105.1:c.721+2437del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||5/14|XM_047441106.1:c.685+2437del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.641+2346del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||5/9|XR_007067954.1:n.821+2437del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||4/8|XR_007067955.1:n.664+2437del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||5/9|XR_937806.3:n.822+2437del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||5/9|XR_937807.3:n.822+2437del|||||||rs755107963||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28722559del|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|-27|-3|4|-3;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21419;gnomADv4_1_AC_joint_XX=11491;gnomADv4_1_AC_joint_XY=9928;gnomADv4_1_AF_grpmax_joint=0.449795;gnomADv4_1_AF_joint=0.314163;gnomADv4_1_AF_joint_XX=0.31173;gnomADv4_1_AF_joint_XY=0.317026;gnomADv4_1_AN_grpmax_joint=2928;gnomADv4_1_AN_joint=68178;gnomADv4_1_AN_joint_XX=36862;gnomADv4_1_AN_joint_XY=31316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=986;gnomADv4_1_nhomalt_joint_XX=475;gnomADv4_1_nhomalt_joint_XY=511;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28723232 chr22_28723232_G_C G C 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=2.118;CADD_Rawscore=0.17912;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||4/13|ENST00000348295.7:c.592+1745C>G|||||||rs2347443||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||5/15|ENST00000382580.6:c.721+1745C>G|||||||rs2347443||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||||||||||rs2347443|1851|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.482+1654C>G|||||||rs2347443||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.320-3747C>G|||||||rs2347443||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||4/14|ENST00000404276.6:c.592+1745C>G|||||||rs2347443||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||5/15|ENST00000405598.5:c.592+1745C>G|||||||rs2347443||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||4/15|ENST00000416671.5:c.593-1601C>G|||||||rs2347443||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.592+1745C>G|||||||rs2347443||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||3/13|ENST00000425190.7:c.-72+1745C>G|||||||rs2347443||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||4/9|ENST00000433028.6:c.*317+1333C>G|||||||rs2347443||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||3/12|ENST00000433728.5:c.592+1745C>G|||||||rs2347443||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||5/6|ENST00000439200.5:c.685+1745C>G|||||||rs2347443||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.592+1745C>G|||||||rs2347443||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||3/13|ENST00000448511.5:c.482+1654C>G|||||||rs2347443||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||||||||||rs2347443|1733|-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-3747C>G|||||||rs2347443||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||||||||||rs2347443|1809|-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||5/15|ENST00000650281.1:c.592+1745C>G|||||||rs2347443||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||4/12|ENST00000711048.1:c.592+1745C>G|||||||rs2347443||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||5/15|NM_001005735.2:c.721+1745C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||4/15|NM_001257387.2:c.-185-1601C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.482+1654C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||4/14|NM_007194.4:c.592+1745C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||4/13|NM_145862.2:c.592+1745C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||5/15|XM_011529839.3:c.751+1745C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||5/14|XM_011529840.4:c.751+1745C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.512+1654C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||5/10|XM_011529844.3:c.751+1745C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||3/13|XM_011529845.3:c.-72+1745C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||5/15|XM_017028560.2:c.715+1745C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||4/14|XM_024452148.2:c.622+1745C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||4/13|XM_024452149.2:c.622+1745C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||5/15|XM_047441104.1:c.685+1745C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||5/14|XM_047441105.1:c.721+1745C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||5/14|XM_047441106.1:c.685+1745C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.641+1654C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||5/9|XR_007067954.1:n.821+1745C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||4/8|XR_007067955.1:n.664+1745C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||5/9|XR_937806.3:n.822+1745C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||5/9|XR_937807.3:n.822+1745C>G|||||||rs2347443||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28723232G>C|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|-1|-7|-1|-46;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32276;gnomADv4_1_AC_joint_XX=16167;gnomADv4_1_AC_joint_XY=16109;gnomADv4_1_AF_grpmax_joint=0.41589;gnomADv4_1_AF_joint=0.212183;gnomADv4_1_AF_joint_XX=0.207957;gnomADv4_1_AF_joint_XY=0.2166;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3738;gnomADv4_1_nhomalt_joint_XX=1773;gnomADv4_1_nhomalt_joint_XY=1965;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28723408 chr22_28723408_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.333;CADD_Rawscore=0.205049;CSQ=T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||4/13|ENST00000348295.7:c.592+1569G>A|||||||rs9613666||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||5/15|ENST00000382580.6:c.721+1569G>A|||||||rs9613666||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||||||||||rs9613666|1675|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.482+1478G>A|||||||rs9613666||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.320-3923G>A|||||||rs9613666||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||4/14|ENST00000404276.6:c.592+1569G>A|||||||rs9613666||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||5/15|ENST00000405598.5:c.592+1569G>A|||||||rs9613666||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||4/15|ENST00000416671.5:c.592+1569G>A|||||||rs9613666||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.592+1569G>A|||||||rs9613666||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||3/13|ENST00000425190.7:c.-72+1569G>A|||||||rs9613666||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||4/9|ENST00000433028.6:c.*317+1157G>A|||||||rs9613666||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||3/12|ENST00000433728.5:c.592+1569G>A|||||||rs9613666||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||5/6|ENST00000439200.5:c.685+1569G>A|||||||rs9613666||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.592+1569G>A|||||||rs9613666||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||3/13|ENST00000448511.5:c.482+1478G>A|||||||rs9613666||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||||||||||rs9613666|1557|-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-3923G>A|||||||rs9613666||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||||||||||rs9613666|1633|-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||5/15|ENST00000650281.1:c.592+1569G>A|||||||rs9613666||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||4/12|ENST00000711048.1:c.592+1569G>A|||||||rs9613666||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||C|C||1||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||5/15|NM_001005735.2:c.721+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||4/15|NM_001257387.2:c.-186+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.482+1478G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||4/14|NM_007194.4:c.592+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||4/13|NM_145862.2:c.592+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||C|C|OK|||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||5/15|XM_011529839.3:c.751+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||5/14|XM_011529840.4:c.751+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.512+1478G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||5/10|XM_011529844.3:c.751+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||3/13|XM_011529845.3:c.-72+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||5/15|XM_017028560.2:c.715+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||4/14|XM_024452148.2:c.622+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||4/13|XM_024452149.2:c.622+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||5/15|XM_047441104.1:c.685+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||5/14|XM_047441105.1:c.721+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||5/14|XM_047441106.1:c.685+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.641+1478G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||5/9|XR_007067954.1:n.821+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||4/8|XR_007067955.1:n.664+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||5/9|XR_937806.3:n.822+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||5/9|XR_937807.3:n.822+1569G>A|||||||rs9613666||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28723408C>T|||||||||||||;SpliceAI=T|CHEK2|0.00|0.00|0.00|0.00|24|-1|35|41;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40175;gnomADv4_1_AC_joint_XX=20807;gnomADv4_1_AC_joint_XY=19368;gnomADv4_1_AF_grpmax_joint=0.43617;gnomADv4_1_AF_joint=0.267014;gnomADv4_1_AF_joint_XX=0.270137;gnomADv4_1_AF_joint_XY=0.26374;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=150460;gnomADv4_1_AN_joint_XX=77024;gnomADv4_1_AN_joint_XY=73436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6721;gnomADv4_1_nhomalt_joint_XX=3522;gnomADv4_1_nhomalt_joint_XY=3199;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28723611 chr22_28723611_G_A G A 45 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.706;CADD_Rawscore=0.121951;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||4/13|ENST00000348295.7:c.592+1366C>T|||||||rs2347444||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||5/15|ENST00000382580.6:c.721+1366C>T|||||||rs2347444||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||||||||||rs2347444|1472|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||3/12|ENST00000402731.6:c.482+1275C>T|||||||rs2347444||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.320-4126C>T|||||||rs2347444||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||4/14|ENST00000404276.6:c.592+1366C>T|||||||rs2347444||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||5/15|ENST00000405598.5:c.592+1366C>T|||||||rs2347444||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||4/15|ENST00000416671.5:c.592+1366C>T|||||||rs2347444||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||3/12|ENST00000417588.5:c.592+1366C>T|||||||rs2347444||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||3/13|ENST00000425190.7:c.-72+1366C>T|||||||rs2347444||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||4/9|ENST00000433028.6:c.*317+954C>T|||||||rs2347444||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||3/12|ENST00000433728.5:c.592+1366C>T|||||||rs2347444||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||5/6|ENST00000439200.5:c.685+1366C>T|||||||rs2347444||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||3/6|ENST00000439346.6:c.592+1366C>T|||||||rs2347444||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||3/13|ENST00000448511.5:c.482+1275C>T|||||||rs2347444||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||||||||||rs2347444|1354|-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-4126C>T|||||||rs2347444||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||||||||||rs2347444|1430|-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||5/15|ENST00000650281.1:c.592+1366C>T|||||||rs2347444||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||4/12|ENST00000711048.1:c.592+1366C>T|||||||rs2347444||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||5/15|NM_001005735.2:c.721+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||4/15|NM_001257387.2:c.-186+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||4/13|NM_001349956.2:c.482+1275C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||4/14|NM_007194.4:c.592+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||4/13|NM_145862.2:c.592+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||5/15|XM_011529839.3:c.751+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||5/14|XM_011529840.4:c.751+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||4/13|XM_011529842.3:c.512+1275C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||5/10|XM_011529844.3:c.751+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||3/13|XM_011529845.3:c.-72+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||5/15|XM_017028560.2:c.715+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||4/14|XM_024452148.2:c.622+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||4/13|XM_024452149.2:c.622+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||5/15|XM_047441104.1:c.685+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||5/14|XM_047441105.1:c.721+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||5/14|XM_047441106.1:c.685+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||5/14|XM_047441107.1:c.641+1275C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||5/9|XR_007067954.1:n.821+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||4/8|XR_007067955.1:n.664+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||5/9|XR_937806.3:n.822+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||5/9|XR_937807.3:n.822+1366C>T|||||||rs2347444||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28723611G>A|||||||||||||;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|-11|-23|1|35;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=114500;gnomADv4_1_AC_joint_XX=61471;gnomADv4_1_AC_joint_XY=53029;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.947189;gnomADv4_1_AF_joint_XX=0.945737;gnomADv4_1_AF_joint_XY=0.948878;gnomADv4_1_AN_grpmax_joint=192;gnomADv4_1_AN_joint=120884;gnomADv4_1_AN_joint_XX=64998;gnomADv4_1_AN_joint_XY=55886;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=54215;gnomADv4_1_nhomalt_joint_XX=29065;gnomADv4_1_nhomalt_joint_XY=25150;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28725772 chr22_28725772_G_C G C 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.544;CADD_Rawscore=0.095729;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.320-405C>G|||||||rs7289973||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||3/15|ENST00000382580.6:c.449-405C>G|||||||rs7289973||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.320-405C>G|||||||rs7289973||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.320-405C>G|||||||rs7289973||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.320-6287C>G|||||||rs7289973||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.320-405C>G|||||||rs7289973||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.320-405C>G|||||||rs7289973||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.320-405C>G|||||||rs7289973||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.320-405C>G|||||||rs7289973||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-344-405C>G|||||||rs7289973||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.320-405C>G|||||||rs7289973||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.320-405C>G|||||||rs7289973||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||3/6|ENST00000439200.5:c.413-405C>G|||||||rs7289973||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.320-405C>G|||||||rs7289973||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.320-405C>G|||||||rs7289973||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||5/6|ENST00000454252.2:c.*300-405C>G|||||||rs7289973||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-6287C>G|||||||rs7289973||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.320-405C>G|||||||rs7289973||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.320-405C>G|||||||rs7289973||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.320-405C>G|||||||rs7289973||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||3/15|NM_001005735.2:c.449-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-458-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.320-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.320-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.320-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||3/15|XM_011529839.3:c.479-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||3/14|XM_011529840.4:c.479-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.350-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||3/10|XM_011529844.3:c.479-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-344-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||3/15|XM_017028560.2:c.443-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.350-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.350-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||3/15|XM_047441104.1:c.413-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||3/14|XM_047441105.1:c.449-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||3/14|XM_047441106.1:c.413-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||3/14|XM_047441107.1:c.479-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||3/9|XR_007067954.1:n.549-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.392-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||3/9|XR_937806.3:n.550-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||3/9|XR_937807.3:n.550-405C>G|||||||rs7289973||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28725772G>C|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|-32|5|-25|-3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32219;gnomADv4_1_AC_joint_XX=16145;gnomADv4_1_AC_joint_XY=16074;gnomADv4_1_AF_grpmax_joint=0.416376;gnomADv4_1_AF_joint=0.211998;gnomADv4_1_AF_joint_XX=0.207786;gnomADv4_1_AF_joint_XY=0.216403;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151978;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3721;gnomADv4_1_nhomalt_joint_XX=1768;gnomADv4_1_nhomalt_joint_XY=1953;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28725908 chr22_28725908_C_CA C CA 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=1.242;CADDIndel_Rawscore=0.038633;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.320-542dup|||||||rs34005683||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||3/15|ENST00000382580.6:c.449-542dup|||||||rs34005683||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.320-542dup|||||||rs34005683||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.320-542dup|||||||rs34005683||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.320-6424dup|||||||rs34005683||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.320-542dup|||||||rs34005683||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.320-542dup|||||||rs34005683||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.320-542dup|||||||rs34005683||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.320-542dup|||||||rs34005683||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-344-542dup|||||||rs34005683||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.320-542dup|||||||rs34005683||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.320-542dup|||||||rs34005683||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||3/6|ENST00000439200.5:c.413-542dup|||||||rs34005683||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.320-542dup|||||||rs34005683||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.320-542dup|||||||rs34005683||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||5/6|ENST00000454252.2:c.*299+336dup|||||||rs34005683||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-6424dup|||||||rs34005683||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.320-542dup|||||||rs34005683||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.320-542dup|||||||rs34005683||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.320-542dup|||||||rs34005683||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||3/15|NM_001005735.2:c.449-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-458-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.320-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.320-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.320-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||3/15|XM_011529839.3:c.479-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||3/14|XM_011529840.4:c.479-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.350-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||3/10|XM_011529844.3:c.479-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-344-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||3/15|XM_017028560.2:c.443-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.350-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.350-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||3/15|XM_047441104.1:c.413-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||3/14|XM_047441105.1:c.449-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||3/14|XM_047441106.1:c.413-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||3/14|XM_047441107.1:c.479-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||3/9|XR_007067954.1:n.549-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.392-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||3/9|XR_937806.3:n.550-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||3/9|XR_937807.3:n.550-542dup|||||||rs34005683||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28725921dup|||||||||||||;SpliceAI=CA|CHEK2|0.00|0.00|0.00|0.00|-8|-27|37|-27;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=112353;gnomADv4_1_AC_joint_XX=58590;gnomADv4_1_AC_joint_XY=53763;gnomADv4_1_AF_grpmax_joint=0.838717;gnomADv4_1_AF_joint=0.786709;gnomADv4_1_AF_joint_XX=0.791137;gnomADv4_1_AF_joint_XY=0.781939;gnomADv4_1_AN_grpmax_joint=66070;gnomADv4_1_AN_joint=142814;gnomADv4_1_AN_joint_XX=74058;gnomADv4_1_AN_joint_XY=68756;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=43997;gnomADv4_1_nhomalt_joint_XX=23054;gnomADv4_1_nhomalt_joint_XY=20943;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28727250 chr22_28727250_A_C A C 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.185;CADD_Rawscore=0.026324;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.320-1883T>G|||||||rs6005850||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||3/15|ENST00000382580.6:c.449-1883T>G|||||||rs6005850||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.320-1883T>G|||||||rs6005850||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.320-1883T>G|||||||rs6005850||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.319+7153T>G|||||||rs6005850||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.320-1883T>G|||||||rs6005850||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.320-1883T>G|||||||rs6005850||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.320-1883T>G|||||||rs6005850||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.320-1883T>G|||||||rs6005850||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-344-1883T>G|||||||rs6005850||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.320-1883T>G|||||||rs6005850||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.320-1883T>G|||||||rs6005850||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||3/6|ENST00000439200.5:c.413-1883T>G|||||||rs6005850||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.320-1883T>G|||||||rs6005850||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.320-1883T>G|||||||rs6005850||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||4/6|ENST00000454252.2:c.*182+730T>G|||||||rs6005850||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-7765T>G|||||||rs6005850||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.320-1883T>G|||||||rs6005850||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.320-1883T>G|||||||rs6005850||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.320-1883T>G|||||||rs6005850||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||3/15|NM_001005735.2:c.449-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-458-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.320-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.320-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.320-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||3/15|XM_011529839.3:c.479-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||3/14|XM_011529840.4:c.479-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.350-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||3/10|XM_011529844.3:c.479-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-344-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||3/15|XM_017028560.2:c.443-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.350-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.350-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||3/15|XM_047441104.1:c.413-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||3/14|XM_047441105.1:c.449-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||3/14|XM_047441106.1:c.413-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||3/14|XM_047441107.1:c.479-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||3/9|XR_007067954.1:n.549-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.392-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||3/9|XR_937806.3:n.550-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||3/9|XR_937807.3:n.550-1883T>G|||||||rs6005850||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28727250A>C|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|-41|-46|0|-40;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119787;gnomADv4_1_AC_joint_XX=61567;gnomADv4_1_AC_joint_XY=58220;gnomADv4_1_AF_grpmax_joint=0.842501;gnomADv4_1_AF_joint=0.787989;gnomADv4_1_AF_joint_XX=0.792225;gnomADv4_1_AF_joint_XY=0.783559;gnomADv4_1_AN_grpmax_joint=67994;gnomADv4_1_AN_joint=152016;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=47497;gnomADv4_1_nhomalt_joint_XX=24475;gnomADv4_1_nhomalt_joint_XY=23022;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 28727858 chr22_28727858_T_A T A 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.292;CADD_Rawscore=0.048954;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.320-2491A>T|||||||rs5762760||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||3/15|ENST00000382580.6:c.449-2491A>T|||||||rs5762760||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.320-2491A>T|||||||rs5762760||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.320-2491A>T|||||||rs5762760||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.319+6545A>T|||||||rs5762760||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.320-2491A>T|||||||rs5762760||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.320-2491A>T|||||||rs5762760||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.320-2491A>T|||||||rs5762760||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.320-2491A>T|||||||rs5762760||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-344-2491A>T|||||||rs5762760||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.320-2491A>T|||||||rs5762760||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.320-2491A>T|||||||rs5762760||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||3/6|ENST00000439200.5:c.413-2491A>T|||||||rs5762760||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.320-2491A>T|||||||rs5762760||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.320-2491A>T|||||||rs5762760||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||4/6|ENST00000454252.2:c.*182+122A>T|||||||rs5762760||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-8373A>T|||||||rs5762760||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.320-2491A>T|||||||rs5762760||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.320-2491A>T|||||||rs5762760||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.320-2491A>T|||||||rs5762760||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||3/15|NM_001005735.2:c.449-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-458-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.320-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.320-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.320-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||3/15|XM_011529839.3:c.479-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||3/14|XM_011529840.4:c.479-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.350-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||3/10|XM_011529844.3:c.479-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-344-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||3/15|XM_017028560.2:c.443-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.350-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.350-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||3/15|XM_047441104.1:c.413-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||3/14|XM_047441105.1:c.449-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||3/14|XM_047441106.1:c.413-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||3/14|XM_047441107.1:c.479-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||3/9|XR_007067954.1:n.549-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.392-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||3/9|XR_937806.3:n.550-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||3/9|XR_937807.3:n.550-2491A>T|||||||rs5762760||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28727858T>A|||||||||||||;SpliceAI=A|CHEK2|0.00|0.00|0.01|0.00|-40|-2|-39|-2;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87575;gnomADv4_1_AC_joint_XX=44517;gnomADv4_1_AC_joint_XY=43058;gnomADv4_1_AF_grpmax_joint=0.75;gnomADv4_1_AF_joint=0.575508;gnomADv4_1_AF_joint_XX=0.572345;gnomADv4_1_AF_joint_XY=0.578814;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=26177;gnomADv4_1_nhomalt_joint_XX=13179;gnomADv4_1_nhomalt_joint_XY=12998;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28728005 chr22_28728005_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.83;CADD_Rawscore=-0.065782;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.320-2638T>C|||||||rs4822984||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||3/15|ENST00000382580.6:c.448+2415T>C|||||||rs4822984||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.320-2638T>C|||||||rs4822984||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.320-2638T>C|||||||rs4822984||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.319+6398T>C|||||||rs4822984||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.320-2638T>C|||||||rs4822984||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.320-2638T>C|||||||rs4822984||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.320-2638T>C|||||||rs4822984||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.320-2638T>C|||||||rs4822984||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-344-2638T>C|||||||rs4822984||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.320-2638T>C|||||||rs4822984||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.320-2638T>C|||||||rs4822984||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||3/6|ENST00000439200.5:c.412+2451T>C|||||||rs4822984||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.320-2638T>C|||||||rs4822984||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.320-2638T>C|||||||rs4822984||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay|4/7||ENST00000454252.2:c.*157T>C||667|||||rs4822984||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-8520T>C|||||||rs4822984||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.320-2638T>C|||||||rs4822984||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.320-2638T>C|||||||rs4822984||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.320-2638T>C|||||||rs4822984||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||3/15|NM_001005735.2:c.448+2415T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-458-2638T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.320-2638T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.320-2638T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.320-2638T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||3/15|XM_011529839.3:c.478+2415T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||3/14|XM_011529840.4:c.478+2415T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.350-2638T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||3/10|XM_011529844.3:c.478+2415T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-344-2638T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||3/15|XM_017028560.2:c.442+2451T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.350-2638T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.350-2638T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||3/15|XM_047441104.1:c.412+2451T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||3/14|XM_047441105.1:c.448+2415T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||3/14|XM_047441106.1:c.412+2451T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||3/14|XM_047441107.1:c.478+2415T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||3/9|XR_007067954.1:n.548+2415T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.392-2638T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||3/9|XR_937806.3:n.549+2415T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||3/9|XR_937807.3:n.549+2415T>C|||||||rs4822984||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28728005A>G|||||||||||||;SpliceAI=G|CHEK2|0.00|0.00|0.00|0.00|-25|2|-25|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=148111;gnomADv4_1_AC_joint_XX=75598;gnomADv4_1_AC_joint_XY=72513;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.972163;gnomADv4_1_AF_joint_XX=0.971172;gnomADv4_1_AF_joint_XY=0.973198;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152352;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74510;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=72133;gnomADv4_1_nhomalt_joint_XX=36790;gnomADv4_1_nhomalt_joint_XY=35343;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28728974 chr22_28728974_C_CA C CA 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=1.03;CADDIndel_Rawscore=-0.010283;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.320-3608dup|||||||rs66909343||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||3/15|ENST00000382580.6:c.448+1445dup|||||||rs66909343||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.320-3608dup|||||||rs66909343||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.320-3608dup|||||||rs66909343||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.319+5428dup|||||||rs66909343||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.320-3608dup|||||||rs66909343||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.320-3608dup|||||||rs66909343||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.320-3608dup|||||||rs66909343||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.320-3608dup|||||||rs66909343||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-344-3608dup|||||||rs66909343||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.320-3608dup|||||||rs66909343||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.320-3608dup|||||||rs66909343||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||3/6|ENST00000439200.5:c.412+1481dup|||||||rs66909343||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.320-3608dup|||||||rs66909343||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.320-3608dup|||||||rs66909343||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||3/6|ENST00000454252.2:c.*39+307dup|||||||rs66909343||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-9490dup|||||||rs66909343||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.320-3608dup|||||||rs66909343||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.320-3608dup|||||||rs66909343||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.320-3608dup|||||||rs66909343||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||3/15|NM_001005735.2:c.448+1445dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-458-3608dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.320-3608dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.320-3608dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.320-3608dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||3/15|XM_011529839.3:c.478+1445dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||3/14|XM_011529840.4:c.478+1445dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.350-3608dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||3/10|XM_011529844.3:c.478+1445dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-344-3608dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||3/15|XM_017028560.2:c.442+1481dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.350-3608dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.350-3608dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||3/15|XM_047441104.1:c.412+1481dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||3/14|XM_047441105.1:c.448+1445dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||3/14|XM_047441106.1:c.412+1481dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||3/14|XM_047441107.1:c.478+1445dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||3/9|XR_007067954.1:n.548+1445dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.392-3608dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||3/9|XR_937806.3:n.549+1445dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||3/9|XR_937807.3:n.549+1445dup|||||||rs66909343||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28728982dup|||||||||||||;SpliceAI=CA|CHEK2|0.00|0.00|0.00|0.00|-3|-7|2|-7;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=143105;gnomADv4_1_AC_joint_XX=73258;gnomADv4_1_AC_joint_XY=69847;gnomADv4_1_AF_grpmax_joint=0.995527;gnomADv4_1_AF_joint=0.944164;gnomADv4_1_AF_joint_XX=0.945265;gnomADv4_1_AF_joint_XY=0.943012;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=151568;gnomADv4_1_AN_joint_XX=77500;gnomADv4_1_AN_joint_XY=74068;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67647;gnomADv4_1_nhomalt_joint_XX=34670;gnomADv4_1_nhomalt_joint_XY=32977;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28729540 chr22_28729540_CAAAAA_C CAAAAA C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=.;AF_XY=0.5;AN=4;AN_XX=0;AN_XY=4;AQ=41;CADDIndel_PHREDscore=1.257;CADDIndel_Rawscore=0.041719;CSQ=-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.320-4178_320-4174del|||||||rs58149342||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||3/15|ENST00000382580.6:c.448+875_448+879del|||||||rs58149342||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.320-4178_320-4174del|||||||rs58149342||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.320-4178_320-4174del|||||||rs58149342||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.319+4858_319+4862del|||||||rs58149342||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.320-4178_320-4174del|||||||rs58149342||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.320-4178_320-4174del|||||||rs58149342||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.320-4178_320-4174del|||||||rs58149342||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.320-4178_320-4174del|||||||rs58149342||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-344-4178_-344-4174del|||||||rs58149342||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.320-4178_320-4174del|||||||rs58149342||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.320-4178_320-4174del|||||||rs58149342||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||3/6|ENST00000439200.5:c.412+911_412+915del|||||||rs58149342||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.320-4178_320-4174del|||||||rs58149342||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.320-4178_320-4174del|||||||rs58149342||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||2/6|ENST00000454252.2:c.449-169_449-165del|||||||rs58149342||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-10060_-71-10056del|||||||rs58149342||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.320-4178_320-4174del|||||||rs58149342||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.320-4178_320-4174del|||||||rs58149342||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.320-4178_320-4174del|||||||rs58149342||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||AAAAA|AAAAA||1||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||3/15|NM_001005735.2:c.448+875_448+879del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-458-4178_-458-4174del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.320-4178_320-4174del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.320-4178_320-4174del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.320-4178_320-4174del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||AAAAA|AAAAA|OK|||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||3/15|XM_011529839.3:c.478+875_478+879del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||3/14|XM_011529840.4:c.478+875_478+879del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.350-4178_350-4174del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||3/10|XM_011529844.3:c.478+875_478+879del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-344-4178_-344-4174del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||3/15|XM_017028560.2:c.442+911_442+915del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.350-4178_350-4174del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.350-4178_350-4174del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||3/15|XM_047441104.1:c.412+911_412+915del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||3/14|XM_047441105.1:c.448+875_448+879del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||3/14|XM_047441106.1:c.412+911_412+915del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||3/14|XM_047441107.1:c.478+875_478+879del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||3/9|XR_007067954.1:n.548+875_548+879del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.392-4178_392-4174del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||3/9|XR_937806.3:n.549+875_549+879del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||3/9|XR_937807.3:n.549+875_549+879del|||||||rs58149342||-1||EntrezGene|HGNC:16627|||||||||RefSeq||AAAAA|AAAAA||||chr22:g.28729561_28729565del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36961;gnomADv4_1_AC_joint_XX=20138;gnomADv4_1_AC_joint_XY=16823;gnomADv4_1_AF_grpmax_joint=0.545729;gnomADv4_1_AF_joint=0.472345;gnomADv4_1_AF_joint_XX=0.471837;gnomADv4_1_AF_joint_XY=0.472955;gnomADv4_1_AN_grpmax_joint=2318;gnomADv4_1_AN_joint=78250;gnomADv4_1_AN_joint_XX=42680;gnomADv4_1_AN_joint_XY=35570;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2444;gnomADv4_1_nhomalt_joint_XX=1127;gnomADv4_1_nhomalt_joint_XY=1317;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28729742 chr22_28729742_T_G T G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.535;CADD_Rawscore=-0.176465;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.320-4375A>C|||||||rs5752779||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||3/15|ENST00000382580.6:c.448+678A>C|||||||rs5752779||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.320-4375A>C|||||||rs5752779||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.320-4375A>C|||||||rs5752779||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.319+4661A>C|||||||rs5752779||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.320-4375A>C|||||||rs5752779||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.320-4375A>C|||||||rs5752779||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.320-4375A>C|||||||rs5752779||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.320-4375A>C|||||||rs5752779||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-344-4375A>C|||||||rs5752779||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.320-4375A>C|||||||rs5752779||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.320-4375A>C|||||||rs5752779||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||3/6|ENST00000439200.5:c.412+714A>C|||||||rs5752779||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.320-4375A>C|||||||rs5752779||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.320-4375A>C|||||||rs5752779||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||2/6|ENST00000454252.2:c.449-366A>C|||||||rs5752779||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-10257A>C|||||||rs5752779||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.320-4375A>C|||||||rs5752779||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.320-4375A>C|||||||rs5752779||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.320-4375A>C|||||||rs5752779||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||3/15|NM_001005735.2:c.448+678A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-458-4375A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.320-4375A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.320-4375A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.320-4375A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||3/15|XM_011529839.3:c.478+678A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||3/14|XM_011529840.4:c.478+678A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.350-4375A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||3/10|XM_011529844.3:c.478+678A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-344-4375A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||3/15|XM_017028560.2:c.442+714A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.350-4375A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.350-4375A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||3/15|XM_047441104.1:c.412+714A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||3/14|XM_047441105.1:c.448+678A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||3/14|XM_047441106.1:c.412+714A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||3/14|XM_047441107.1:c.478+678A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||3/9|XR_007067954.1:n.548+678A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.392-4375A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||3/9|XR_937806.3:n.549+678A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||3/9|XR_937807.3:n.549+678A>C|||||||rs5752779||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28729742T>G|||||||||||||;SpliceAI=G|CHEK2|0.00|0.00|0.00|0.00|-5|34|-39|34;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149848;gnomADv4_1_AC_joint_XX=76552;gnomADv4_1_AC_joint_XY=73296;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.985842;gnomADv4_1_AF_joint_XX=0.985555;gnomADv4_1_AF_joint_XY=0.986142;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152000;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=73902;gnomADv4_1_nhomalt_joint_XX=37745;gnomADv4_1_nhomalt_joint_XY=36157;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28729848 chr22_28729848_T_C T C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.708;CADD_Rawscore=-0.106206;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.320-4481A>G|||||||rs4525795||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||3/15|ENST00000382580.6:c.448+572A>G|||||||rs4525795||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.320-4481A>G|||||||rs4525795||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.320-4481A>G|||||||rs4525795||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.319+4555A>G|||||||rs4525795||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.320-4481A>G|||||||rs4525795||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.320-4481A>G|||||||rs4525795||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.320-4481A>G|||||||rs4525795||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.320-4481A>G|||||||rs4525795||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-344-4481A>G|||||||rs4525795||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.320-4481A>G|||||||rs4525795||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.320-4481A>G|||||||rs4525795||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||3/6|ENST00000439200.5:c.412+608A>G|||||||rs4525795||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.320-4481A>G|||||||rs4525795||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.320-4481A>G|||||||rs4525795||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||2/6|ENST00000454252.2:c.449-472A>G|||||||rs4525795||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-10363A>G|||||||rs4525795||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.320-4481A>G|||||||rs4525795||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.320-4481A>G|||||||rs4525795||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.320-4481A>G|||||||rs4525795||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||3/15|NM_001005735.2:c.448+572A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-458-4481A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.320-4481A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.320-4481A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.320-4481A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||3/15|XM_011529839.3:c.478+572A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||3/14|XM_011529840.4:c.478+572A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.350-4481A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||3/10|XM_011529844.3:c.478+572A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-344-4481A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||3/15|XM_017028560.2:c.442+608A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.350-4481A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.350-4481A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||3/15|XM_047441104.1:c.412+608A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||3/14|XM_047441105.1:c.448+572A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||3/14|XM_047441106.1:c.412+608A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||3/14|XM_047441107.1:c.478+572A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||3/9|XR_007067954.1:n.548+572A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.392-4481A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||3/9|XR_937806.3:n.549+572A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||3/9|XR_937807.3:n.549+572A>G|||||||rs4525795||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28729848T>C|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|32|-3|-39|7;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152144;gnomADv4_1_AC_joint_XX=77770;gnomADv4_1_AC_joint_XY=74374;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76072;gnomADv4_1_nhomalt_joint_XX=38885;gnomADv4_1_nhomalt_joint_XY=37187;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28730197 chr22_28730197_A_G A G 35 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=35;CADD_PHREDscore=0.311;CADD_Rawscore=-0.312549;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.319+4206T>C|||||||rs12627843||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||3/15|ENST00000382580.6:c.448+223T>C|||||||rs12627843||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.319+4206T>C|||||||rs12627843||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.319+4206T>C|||||||rs12627843||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.319+4206T>C|||||||rs12627843||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.319+4206T>C|||||||rs12627843||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.319+4206T>C|||||||rs12627843||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.319+4206T>C|||||||rs12627843||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.319+4206T>C|||||||rs12627843||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-344-4830T>C|||||||rs12627843||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.319+4206T>C|||||||rs12627843||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.319+4206T>C|||||||rs12627843||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||3/6|ENST00000439200.5:c.412+259T>C|||||||rs12627843||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.319+4206T>C|||||||rs12627843||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.319+4206T>C|||||||rs12627843||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||2/6|ENST00000454252.2:c.448+223T>C|||||||rs12627843||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-10712T>C|||||||rs12627843||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.319+4206T>C|||||||rs12627843||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.319+4206T>C|||||||rs12627843||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.319+4206T>C|||||||rs12627843||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||3/15|NM_001005735.2:c.448+223T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-459+4206T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.319+4206T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.319+4206T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.319+4206T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||3/15|XM_011529839.3:c.478+223T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||3/14|XM_011529840.4:c.478+223T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.349+4206T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||3/10|XM_011529844.3:c.478+223T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-344-4830T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||3/15|XM_017028560.2:c.442+259T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.349+4206T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.349+4206T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||3/15|XM_047441104.1:c.412+259T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||3/14|XM_047441105.1:c.448+223T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||3/14|XM_047441106.1:c.412+259T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||3/14|XM_047441107.1:c.478+223T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||3/9|XR_007067954.1:n.548+223T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.391+4206T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||3/9|XR_937806.3:n.549+223T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||3/9|XR_937807.3:n.549+223T>C|||||||rs12627843||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28730197A>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.28730197A>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=CHEK2:11200;ClinVar_Variation_ID=1292432;SpliceAI=G|CHEK2|0.00|0.00|0.00|0.00|-20|-12|-20|8;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129570;gnomADv4_1_AC_joint_XX=68153;gnomADv4_1_AC_joint_XY=61417;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999892;gnomADv4_1_AF_joint_XX=0.999927;gnomADv4_1_AF_joint_XY=0.999853;gnomADv4_1_AN_grpmax_joint=262;gnomADv4_1_AN_joint=129584;gnomADv4_1_AN_joint_XX=68158;gnomADv4_1_AN_joint_XY=61426;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=64778;gnomADv4_1_nhomalt_joint_XX=34074;gnomADv4_1_nhomalt_joint_XY=30704;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 28730226 chr22_28730226_G_A G A 22 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=22;CADD_PHREDscore=0.524;CADD_Rawscore=-0.181527;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.319+4177C>T|||||||rs12171198||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||3/15|ENST00000382580.6:c.448+194C>T|||||||rs12171198||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.319+4177C>T|||||||rs12171198||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.319+4177C>T|||||||rs12171198||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.319+4177C>T|||||||rs12171198||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.319+4177C>T|||||||rs12171198||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.319+4177C>T|||||||rs12171198||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.319+4177C>T|||||||rs12171198||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.319+4177C>T|||||||rs12171198||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-344-4859C>T|||||||rs12171198||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.319+4177C>T|||||||rs12171198||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.319+4177C>T|||||||rs12171198||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||3/6|ENST00000439200.5:c.412+230C>T|||||||rs12171198||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.319+4177C>T|||||||rs12171198||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.319+4177C>T|||||||rs12171198||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||2/6|ENST00000454252.2:c.448+194C>T|||||||rs12171198||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-71-10741C>T|||||||rs12171198||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.319+4177C>T|||||||rs12171198||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.319+4177C>T|||||||rs12171198||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.319+4177C>T|||||||rs12171198||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||3/15|NM_001005735.2:c.448+194C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-459+4177C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.319+4177C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.319+4177C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.319+4177C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||3/15|XM_011529839.3:c.478+194C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||3/14|XM_011529840.4:c.478+194C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.349+4177C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||3/10|XM_011529844.3:c.478+194C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-344-4859C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||3/15|XM_017028560.2:c.442+230C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.349+4177C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.349+4177C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||3/15|XM_047441104.1:c.412+230C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||3/14|XM_047441105.1:c.448+194C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||3/14|XM_047441106.1:c.412+230C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||3/14|XM_047441107.1:c.478+194C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||3/9|XR_007067954.1:n.548+194C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.391+4177C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||3/9|XR_937806.3:n.549+194C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||3/9|XR_937807.3:n.549+194C>T|||||||rs12171198||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28730226G>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.28730226G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=CHEK2:11200;ClinVar_Variation_ID=1247222;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|-49|0|-49|-38;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90276;gnomADv4_1_AC_joint_XX=49153;gnomADv4_1_AC_joint_XY=41123;gnomADv4_1_AF_grpmax_joint=0.997811;gnomADv4_1_AF_joint=0.997282;gnomADv4_1_AF_joint_XX=0.997099;gnomADv4_1_AF_joint_XY=0.997502;gnomADv4_1_AN_grpmax_joint=7310;gnomADv4_1_AN_joint=90522;gnomADv4_1_AN_joint_XX=49296;gnomADv4_1_AN_joint_XY=41226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=45015;gnomADv4_1_nhomalt_joint_XX=24505;gnomADv4_1_nhomalt_joint_XY=20510;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28731236 chr22_28731236_A_T A T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.036;CADD_Rawscore=-0.889948;CSQ=T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.319+3167T>A|||||||rs8184986||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||2/15|ENST00000382580.6:c.320-688T>A|||||||rs8184986||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.319+3167T>A|||||||rs8184986||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.319+3167T>A|||||||rs8184986||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.319+3167T>A|||||||rs8184986||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.319+3167T>A|||||||rs8184986||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.319+3167T>A|||||||rs8184986||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.319+3167T>A|||||||rs8184986||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.319+3167T>A|||||||rs8184986||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-344-5869T>A|||||||rs8184986||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.319+3167T>A|||||||rs8184986||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.319+3167T>A|||||||rs8184986||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||2/6|ENST00000439200.5:c.320-688T>A|||||||rs8184986||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.319+3167T>A|||||||rs8184986||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.319+3167T>A|||||||rs8184986||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||1/6|ENST00000454252.2:c.320-688T>A|||||||rs8184986||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+10533T>A|||||||rs8184986||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.319+3167T>A|||||||rs8184986||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.319+3167T>A|||||||rs8184986||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.319+3167T>A|||||||rs8184986||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||2/15|NM_001005735.2:c.320-688T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-459+3167T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.319+3167T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.319+3167T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.319+3167T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||2/15|XM_011529839.3:c.350-688T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||2/14|XM_011529840.4:c.350-688T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.349+3167T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||2/10|XM_011529844.3:c.350-688T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-344-5869T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||2/15|XM_017028560.2:c.350-688T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.349+3167T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.349+3167T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||2/15|XM_047441104.1:c.320-688T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||2/14|XM_047441105.1:c.320-688T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||2/14|XM_047441106.1:c.320-688T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||2/14|XM_047441107.1:c.350-688T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||2/9|XR_007067954.1:n.420-688T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.391+3167T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||2/9|XR_937806.3:n.421-688T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||2/9|XR_937807.3:n.421-688T>A|||||||rs8184986||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28731236A>T|||1||||||||||;SpliceAI=T|CHEK2|0.00|0.00|0.00|0.00|-2|-41|-20|-41;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14930;gnomADv4_1_AC_joint_XX=7692;gnomADv4_1_AC_joint_XY=7238;gnomADv4_1_AF_grpmax_joint=0.208333;gnomADv4_1_AF_joint=0.098225;gnomADv4_1_AF_joint_XX=0.0990012;gnomADv4_1_AF_joint_XY=0.0974133;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=957;gnomADv4_1_nhomalt_joint_XX=501;gnomADv4_1_nhomalt_joint_XY=456;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28731414 chr22_28731414_T_C T C 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.145;CADD_Rawscore=0.017449;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.319+2989A>G|||||||rs8184952||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||2/15|ENST00000382580.6:c.320-866A>G|||||||rs8184952||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.319+2989A>G|||||||rs8184952||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.319+2989A>G|||||||rs8184952||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.319+2989A>G|||||||rs8184952||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.319+2989A>G|||||||rs8184952||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.319+2989A>G|||||||rs8184952||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.319+2989A>G|||||||rs8184952||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.319+2989A>G|||||||rs8184952||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-344-6047A>G|||||||rs8184952||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.319+2989A>G|||||||rs8184952||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.319+2989A>G|||||||rs8184952||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||2/6|ENST00000439200.5:c.320-866A>G|||||||rs8184952||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.319+2989A>G|||||||rs8184952||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.319+2989A>G|||||||rs8184952||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||1/6|ENST00000454252.2:c.320-866A>G|||||||rs8184952||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+10355A>G|||||||rs8184952||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.319+2989A>G|||||||rs8184952||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.319+2989A>G|||||||rs8184952||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.319+2989A>G|||||||rs8184952||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||2/15|NM_001005735.2:c.320-866A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-459+2989A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.319+2989A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.319+2989A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.319+2989A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||2/15|XM_011529839.3:c.350-866A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||2/14|XM_011529840.4:c.350-866A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.349+2989A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||2/10|XM_011529844.3:c.350-866A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-344-6047A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||2/15|XM_017028560.2:c.350-866A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.349+2989A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.349+2989A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||2/15|XM_047441104.1:c.320-866A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||2/14|XM_047441105.1:c.320-866A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||2/14|XM_047441106.1:c.320-866A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||2/14|XM_047441107.1:c.350-866A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||2/9|XR_007067954.1:n.420-866A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.391+2989A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||2/9|XR_937806.3:n.421-866A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||2/9|XR_937807.3:n.421-866A>G|||||||rs8184952||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28731414T>C|||1||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|20|17|37|-33;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119655;gnomADv4_1_AC_joint_XX=61501;gnomADv4_1_AC_joint_XY=58154;gnomADv4_1_AF_grpmax_joint=0.842437;gnomADv4_1_AF_joint=0.787982;gnomADv4_1_AF_joint_XX=0.792314;gnomADv4_1_AF_joint_XY=0.783451;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=151850;gnomADv4_1_AN_joint_XX=77622;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=47442;gnomADv4_1_nhomalt_joint_XX=24454;gnomADv4_1_nhomalt_joint_XY=22988;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 28731424 chr22_28731424_A_C A C 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.463;CADD_Rawscore=-0.212579;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.319+2979T>G|||||||rs9613667||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||2/15|ENST00000382580.6:c.320-876T>G|||||||rs9613667||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.319+2979T>G|||||||rs9613667||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.319+2979T>G|||||||rs9613667||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.319+2979T>G|||||||rs9613667||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.319+2979T>G|||||||rs9613667||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.319+2979T>G|||||||rs9613667||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.319+2979T>G|||||||rs9613667||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.319+2979T>G|||||||rs9613667||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-344-6057T>G|||||||rs9613667||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.319+2979T>G|||||||rs9613667||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.319+2979T>G|||||||rs9613667||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||2/6|ENST00000439200.5:c.320-876T>G|||||||rs9613667||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.319+2979T>G|||||||rs9613667||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.319+2979T>G|||||||rs9613667||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||1/6|ENST00000454252.2:c.320-876T>G|||||||rs9613667||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+10345T>G|||||||rs9613667||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.319+2979T>G|||||||rs9613667||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.319+2979T>G|||||||rs9613667||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.319+2979T>G|||||||rs9613667||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||2/15|NM_001005735.2:c.320-876T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-459+2979T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.319+2979T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.319+2979T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.319+2979T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||2/15|XM_011529839.3:c.350-876T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||2/14|XM_011529840.4:c.350-876T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.349+2979T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||2/10|XM_011529844.3:c.350-876T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-344-6057T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||2/15|XM_017028560.2:c.350-876T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.349+2979T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.349+2979T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||2/15|XM_047441104.1:c.320-876T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||2/14|XM_047441105.1:c.320-876T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||2/14|XM_047441106.1:c.320-876T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||2/14|XM_047441107.1:c.350-876T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||2/9|XR_007067954.1:n.420-876T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.391+2979T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||2/9|XR_937806.3:n.421-876T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||2/9|XR_937807.3:n.421-876T>G|||||||rs9613667||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28731424A>C|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|5|10|47|12;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58316;gnomADv4_1_AC_joint_XX=30149;gnomADv4_1_AC_joint_XY=28167;gnomADv4_1_AF_grpmax_joint=0.534028;gnomADv4_1_AF_joint=0.384442;gnomADv4_1_AF_joint_XX=0.388748;gnomADv4_1_AF_joint_XY=0.379937;gnomADv4_1_AN_grpmax_joint=41348;gnomADv4_1_AN_joint=151690;gnomADv4_1_AN_joint_XX=77554;gnomADv4_1_AN_joint_XY=74136;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=12066;gnomADv4_1_nhomalt_joint_XX=6237;gnomADv4_1_nhomalt_joint_XY=5829;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28731559 chr22_28731559_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.797;CADD_Rawscore=-0.076132;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.319+2844C>T|||||||rs8184945||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||2/15|ENST00000382580.6:c.320-1011C>T|||||||rs8184945||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.319+2844C>T|||||||rs8184945||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.319+2844C>T|||||||rs8184945||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.319+2844C>T|||||||rs8184945||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.319+2844C>T|||||||rs8184945||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.319+2844C>T|||||||rs8184945||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.319+2844C>T|||||||rs8184945||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.319+2844C>T|||||||rs8184945||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-344-6192C>T|||||||rs8184945||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.319+2844C>T|||||||rs8184945||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.319+2844C>T|||||||rs8184945||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||2/6|ENST00000439200.5:c.320-1011C>T|||||||rs8184945||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.319+2844C>T|||||||rs8184945||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.319+2844C>T|||||||rs8184945||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||1/6|ENST00000454252.2:c.320-1011C>T|||||||rs8184945||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+10210C>T|||||||rs8184945||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.319+2844C>T|||||||rs8184945||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.319+2844C>T|||||||rs8184945||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.319+2844C>T|||||||rs8184945||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||2/15|NM_001005735.2:c.320-1011C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-459+2844C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.319+2844C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.319+2844C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.319+2844C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||2/15|XM_011529839.3:c.350-1011C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||2/14|XM_011529840.4:c.350-1011C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.349+2844C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||2/10|XM_011529844.3:c.350-1011C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-344-6192C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||2/15|XM_017028560.2:c.350-1011C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.349+2844C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.349+2844C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||2/15|XM_047441104.1:c.320-1011C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||2/14|XM_047441105.1:c.320-1011C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||2/14|XM_047441106.1:c.320-1011C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||2/14|XM_047441107.1:c.350-1011C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||2/9|XR_007067954.1:n.420-1011C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.391+2844C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||2/9|XR_937806.3:n.421-1011C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||2/9|XR_937807.3:n.421-1011C>T|||||||rs8184945||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28731559G>A|||||||||||||;SpliceAI=A|CHEK2|0.00|0.00|0.00|0.00|2|9|2|-4;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40669;gnomADv4_1_AC_joint_XX=21062;gnomADv4_1_AC_joint_XY=19607;gnomADv4_1_AF_grpmax_joint=0.414384;gnomADv4_1_AF_joint=0.267503;gnomADv4_1_AF_joint_XX=0.270978;gnomADv4_1_AF_joint_XY=0.263868;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6955;gnomADv4_1_nhomalt_joint_XX=3647;gnomADv4_1_nhomalt_joint_XY=3308;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28732025 chr22_28732025_T_C T C 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.067;CADD_Rawscore=0.371215;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.319+2378A>G|||||||rs1018496||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||2/15|ENST00000382580.6:c.320-1477A>G|||||||rs1018496||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.319+2378A>G|||||||rs1018496||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.319+2378A>G|||||||rs1018496||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.319+2378A>G|||||||rs1018496||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.319+2378A>G|||||||rs1018496||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.319+2378A>G|||||||rs1018496||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.319+2378A>G|||||||rs1018496||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.319+2378A>G|||||||rs1018496||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-344-6658A>G|||||||rs1018496||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.319+2378A>G|||||||rs1018496||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.319+2378A>G|||||||rs1018496||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||2/6|ENST00000439200.5:c.320-1477A>G|||||||rs1018496||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.319+2378A>G|||||||rs1018496||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.319+2378A>G|||||||rs1018496||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||1/6|ENST00000454252.2:c.320-1477A>G|||||||rs1018496||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+9744A>G|||||||rs1018496||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.319+2378A>G|||||||rs1018496||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.319+2378A>G|||||||rs1018496||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.319+2378A>G|||||||rs1018496||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||2/15|NM_001005735.2:c.320-1477A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-459+2378A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.319+2378A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.319+2378A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.319+2378A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||2/15|XM_011529839.3:c.350-1477A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||2/14|XM_011529840.4:c.350-1477A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.349+2378A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||2/10|XM_011529844.3:c.350-1477A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-344-6658A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||2/15|XM_017028560.2:c.350-1477A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.349+2378A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.349+2378A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||2/15|XM_047441104.1:c.320-1477A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||2/14|XM_047441105.1:c.320-1477A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||2/14|XM_047441106.1:c.320-1477A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||2/14|XM_047441107.1:c.350-1477A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||2/9|XR_007067954.1:n.420-1477A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.391+2378A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||2/9|XR_937806.3:n.421-1477A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||2/9|XR_937807.3:n.421-1477A>G|||||||rs1018496||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28732025T>C|||||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|5|39|5|-7;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=89750;gnomADv4_1_AC_joint_XX=45680;gnomADv4_1_AC_joint_XY=44070;gnomADv4_1_AF_grpmax_joint=0.757249;gnomADv4_1_AF_joint=0.590297;gnomADv4_1_AF_joint_XX=0.587615;gnomADv4_1_AF_joint_XY=0.593104;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=27523;gnomADv4_1_nhomalt_joint_XX=13900;gnomADv4_1_nhomalt_joint_XY=13623;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28734024 chr22_28734024_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.675;CADD_Rawscore=-0.118198;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.319+379A>G|||||||rs738722||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||2/15|ENST00000382580.6:c.319+379A>G|||||||rs738722||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.319+379A>G|||||||rs738722||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.319+379A>G|||||||rs738722||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.319+379A>G|||||||rs738722||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.319+379A>G|||||||rs738722||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.319+379A>G|||||||rs738722||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.319+379A>G|||||||rs738722||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.319+379A>G|||||||rs738722||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-345+7745A>G|||||||rs738722||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.319+379A>G|||||||rs738722||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.319+379A>G|||||||rs738722||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||2/6|ENST00000439200.5:c.319+379A>G|||||||rs738722||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.319+379A>G|||||||rs738722||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.319+379A>G|||||||rs738722||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||1/6|ENST00000454252.2:c.319+379A>G|||||||rs738722||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+7745A>G|||||||rs738722||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.319+379A>G|||||||rs738722||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.319+379A>G|||||||rs738722||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.319+379A>G|||||||rs738722||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||2/15|NM_001005735.2:c.319+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-459+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.319+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.319+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.319+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||2/15|XM_011529839.3:c.349+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||2/14|XM_011529840.4:c.349+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.349+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||2/10|XM_011529844.3:c.349+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-345+7745A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||2/15|XM_017028560.2:c.349+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.349+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.349+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||2/15|XM_047441104.1:c.319+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||2/14|XM_047441105.1:c.319+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||2/14|XM_047441106.1:c.319+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||2/14|XM_047441107.1:c.349+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||2/9|XR_007067954.1:n.419+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.391+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||2/9|XR_937806.3:n.420+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||2/9|XR_937807.3:n.420+379A>G|||||||rs738722||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28734024T>C|||1||||||||||;SpliceAI=C|CHEK2|0.00|0.00|0.00|0.00|-18|48|48|11;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=103048;gnomADv4_1_AC_joint_XX=52396;gnomADv4_1_AC_joint_XY=50652;gnomADv4_1_AF_grpmax_joint=0.839078;gnomADv4_1_AF_joint=0.678313;gnomADv4_1_AF_joint_XX=0.674528;gnomADv4_1_AF_joint_XY=0.682274;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=151918;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=35599;gnomADv4_1_nhomalt_joint_XX=17973;gnomADv4_1_nhomalt_joint_XY=17626;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28734359 chr22_28734359_G_GT G GT 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=3.678;CADDIndel_Rawscore=0.336655;CSQ=T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||2/13|ENST00000348295.7:c.319+43dup|||||||rs3841692||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||2/15|ENST00000382580.6:c.319+43dup|||||||rs3841692||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||4/5|ENST00000398017.3:c.319+43dup|||||||rs3841692||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||1/12|ENST00000402731.6:c.319+43dup|||||||rs3841692||-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||1/11|ENST00000403642.5:c.319+43dup|||||||rs3841692||-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||2/14|ENST00000404276.6:c.319+43dup|||||||rs3841692||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||3/15|ENST00000405598.5:c.319+43dup|||||||rs3841692||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||2/15|ENST00000416671.5:c.319+43dup|||||||rs3841692||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||1/12|ENST00000417588.5:c.319+43dup|||||||rs3841692||-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-345+7409dup|||||||rs3841692||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||2/9|ENST00000433028.6:c.319+43dup|||||||rs3841692||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||1/12|ENST00000433728.5:c.319+43dup|||||||rs3841692||-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||2/6|ENST00000439200.5:c.319+43dup|||||||rs3841692||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||1/6|ENST00000439346.6:c.319+43dup|||||||rs3841692||-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||1/13|ENST00000448511.5:c.319+43dup|||||||rs3841692||-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||1/6|ENST00000454252.2:c.319+43dup|||||||rs3841692||-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+7409dup|||||||rs3841692||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||2/3|ENST00000650233.1:c.319+43dup|||||||rs3841692||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||3/15|ENST00000650281.1:c.319+43dup|||||||rs3841692||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||2/12|ENST00000711048.1:c.319+43dup|||||||rs3841692||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||2/15|NM_001005735.2:c.319+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||2/15|NM_001257387.2:c.-459+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||2/13|NM_001349956.2:c.319+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||2/14|NM_007194.4:c.319+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||2/13|NM_145862.2:c.319+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||2/15|XM_011529839.3:c.349+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||2/14|XM_011529840.4:c.349+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||2/13|XM_011529842.3:c.349+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||2/10|XM_011529844.3:c.349+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-345+7409dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||2/15|XM_017028560.2:c.349+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||2/14|XM_024452148.2:c.349+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||2/13|XM_024452149.2:c.349+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||2/15|XM_047441104.1:c.319+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||2/14|XM_047441105.1:c.319+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||2/14|XM_047441106.1:c.319+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||2/14|XM_047441107.1:c.349+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||2/9|XR_007067954.1:n.419+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||2/8|XR_007067955.1:n.391+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||2/9|XR_937806.3:n.420+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||2/9|XR_937807.3:n.420+43dup|||||||rs3841692||-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28734364dup|benign||1||||||||||;ClinVar_CLNDN=not_provided|Familial_cancer_of_breast|Hereditary_breast_ovarian_cancer_syndrome;ClinVar_CLNHGVS=NC_000022.11:g.28734364dup;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=CHEK2:11200;ClinVar_Variation_ID=1167620;SpliceAI=GT|CHEK2|0.00|0.00|0.00|0.00|-25|-9|44|29;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=289236;gnomADv4_1_AC_joint_XX=142955;gnomADv4_1_AC_joint_XY=146281;gnomADv4_1_AF_grpmax_joint=0.423643;gnomADv4_1_AF_joint=0.181981;gnomADv4_1_AF_joint_XX=0.178987;gnomADv4_1_AF_joint_XY=0.185005;gnomADv4_1_AN_grpmax_joint=44698;gnomADv4_1_AN_joint=1589378;gnomADv4_1_AN_joint_XX=798690;gnomADv4_1_AN_joint_XY=790688;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=29962;gnomADv4_1_nhomalt_joint_XX=14585;gnomADv4_1_nhomalt_joint_XY=15377;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28735141 chr22_28735141_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.099;CADD_Rawscore=0.006707;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||1/13|ENST00000348295.7:c.-6-414A>G|||||||rs1807609||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||1/15|ENST00000382580.6:c.-6-414A>G|||||||rs1807609||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||3/5|ENST00000398017.3:c.-6-414A>G|||||||rs1807609||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||||||||||rs1807609|414|-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||||||||||rs1807609|420|-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||1/14|ENST00000404276.6:c.-6-414A>G|||||||rs1807609||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||2/15|ENST00000405598.5:c.-6-414A>G|||||||rs1807609||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||1/15|ENST00000416671.5:c.-6-414A>G|||||||rs1807609||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||||||||||rs1807609|420|-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-345+6628A>G|||||||rs1807609||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||1/9|ENST00000433028.6:c.-6-414A>G|||||||rs1807609||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||||||||||rs1807609|420|-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||1/6|ENST00000439200.5:c.-6-414A>G|||||||rs1807609||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs1807609|420|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||||||||||rs1807609|420|-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||||||||||rs1807609|414|-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+6628A>G|||||||rs1807609||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||1/3|ENST00000650233.1:c.-6-414A>G|||||||rs1807609||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||2/15|ENST00000650281.1:c.-6-414A>G|||||||rs1807609||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||1/12|ENST00000711048.1:c.-6-414A>G|||||||rs1807609||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||1/15|NM_001005735.2:c.-6-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||1/15|NM_001257387.2:c.-783-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||1/13|NM_001349956.2:c.-6-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||1/14|NM_007194.4:c.-6-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||1/13|NM_145862.2:c.-6-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||1/15|XM_011529839.3:c.25-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||1/14|XM_011529840.4:c.25-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||1/13|XM_011529842.3:c.25-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||1/10|XM_011529844.3:c.25-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-345+6628A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||1/15|XM_017028560.2:c.25-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||1/14|XM_024452148.2:c.25-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||1/13|XM_024452149.2:c.25-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||1/15|XM_047441104.1:c.-6-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||1/14|XM_047441105.1:c.-6-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||1/14|XM_047441106.1:c.-6-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||1/14|XM_047441107.1:c.25-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||1/9|XR_007067954.1:n.95-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||1/8|XR_007067955.1:n.67-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||1/9|XR_937806.3:n.96-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||1/9|XR_937807.3:n.96-414A>G|||||||rs1807609||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28735141T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=103127;gnomADv4_1_AC_joint_XX=52437;gnomADv4_1_AC_joint_XY=50690;gnomADv4_1_AF_grpmax_joint=0.840589;gnomADv4_1_AF_joint=0.679451;gnomADv4_1_AF_joint_XX=0.675769;gnomADv4_1_AF_joint_XY=0.683301;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=151780;gnomADv4_1_AN_joint_XX=77596;gnomADv4_1_AN_joint_XY=74184;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=35642;gnomADv4_1_nhomalt_joint_XX=17998;gnomADv4_1_nhomalt_joint_XY=17644;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28735438 chr22_28735438_T_A T A 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.773;CADD_Rawscore=0.132115;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||1/13|ENST00000348295.7:c.-6-711A>T|||||||rs2017309||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||1/15|ENST00000382580.6:c.-6-711A>T|||||||rs2017309||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||3/5|ENST00000398017.3:c.-6-711A>T|||||||rs2017309||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||||||||||rs2017309|711|-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||||||||||rs2017309|717|-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||1/14|ENST00000404276.6:c.-6-711A>T|||||||rs2017309||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||2/15|ENST00000405598.5:c.-6-711A>T|||||||rs2017309||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||1/15|ENST00000416671.5:c.-6-711A>T|||||||rs2017309||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||||||||||rs2017309|717|-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-345+6331A>T|||||||rs2017309||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||1/9|ENST00000433028.6:c.-6-711A>T|||||||rs2017309||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||||||||||rs2017309|717|-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||1/6|ENST00000439200.5:c.-6-711A>T|||||||rs2017309||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs2017309|717|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||||||||||rs2017309|717|-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||||||||||rs2017309|711|-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+6331A>T|||||||rs2017309||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||1/3|ENST00000650233.1:c.-6-711A>T|||||||rs2017309||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||2/15|ENST00000650281.1:c.-6-711A>T|||||||rs2017309||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||1/12|ENST00000711048.1:c.-6-711A>T|||||||rs2017309||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||1/15|NM_001005735.2:c.-6-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||1/15|NM_001257387.2:c.-783-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||1/13|NM_001349956.2:c.-6-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||1/14|NM_007194.4:c.-6-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||1/13|NM_145862.2:c.-6-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||1/15|XM_011529839.3:c.25-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||1/14|XM_011529840.4:c.25-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||1/13|XM_011529842.3:c.25-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||1/10|XM_011529844.3:c.25-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-345+6331A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||1/15|XM_017028560.2:c.25-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||1/14|XM_024452148.2:c.25-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||1/13|XM_024452149.2:c.25-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||1/15|XM_047441104.1:c.-6-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||1/14|XM_047441105.1:c.-6-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||1/14|XM_047441106.1:c.-6-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||1/14|XM_047441107.1:c.25-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||1/9|XR_007067954.1:n.95-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||1/8|XR_007067955.1:n.67-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||1/9|XR_937806.3:n.96-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||1/9|XR_937807.3:n.96-711A>T|||||||rs2017309||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28735438T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34726;gnomADv4_1_AC_joint_XX=17447;gnomADv4_1_AC_joint_XY=17279;gnomADv4_1_AF_grpmax_joint=0.416924;gnomADv4_1_AF_joint=0.228575;gnomADv4_1_AF_joint_XX=0.224595;gnomADv4_1_AF_joint_XY=0.232739;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=151924;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4249;gnomADv4_1_nhomalt_joint_XX=2044;gnomADv4_1_nhomalt_joint_XY=2205;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28735650 chr22_28735650_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=2.887;CADD_Rawscore=0.263503;CSQ=A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||1/13|ENST00000348295.7:c.-6-923C>T|||||||rs184048188||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||1/15|ENST00000382580.6:c.-6-923C>T|||||||rs184048188||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||3/5|ENST00000398017.3:c.-6-923C>T|||||||rs184048188||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||||||||||rs184048188|923|-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||||||||||rs184048188|929|-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||1/14|ENST00000404276.6:c.-6-923C>T|||||||rs184048188||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||2/15|ENST00000405598.5:c.-6-923C>T|||||||rs184048188||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||1/15|ENST00000416671.5:c.-6-923C>T|||||||rs184048188||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||||||||||rs184048188|929|-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-345+6119C>T|||||||rs184048188||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||1/9|ENST00000433028.6:c.-6-923C>T|||||||rs184048188||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||||||||||rs184048188|929|-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||1/6|ENST00000439200.5:c.-6-923C>T|||||||rs184048188||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs184048188|929|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||||||||||rs184048188|929|-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||||||||||rs184048188|923|-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+6119C>T|||||||rs184048188||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||1/3|ENST00000650233.1:c.-6-923C>T|||||||rs184048188||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||2/15|ENST00000650281.1:c.-6-923C>T|||||||rs184048188||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||1/12|ENST00000711048.1:c.-6-923C>T|||||||rs184048188||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||1/15|NM_001005735.2:c.-6-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||1/15|NM_001257387.2:c.-783-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||1/13|NM_001349956.2:c.-6-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||1/14|NM_007194.4:c.-6-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||1/13|NM_145862.2:c.-6-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||1/15|XM_011529839.3:c.25-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||1/14|XM_011529840.4:c.25-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||1/13|XM_011529842.3:c.25-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||1/10|XM_011529844.3:c.25-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-345+6119C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||1/15|XM_017028560.2:c.25-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||1/14|XM_024452148.2:c.25-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||1/13|XM_024452149.2:c.25-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||1/15|XM_047441104.1:c.-6-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||1/14|XM_047441105.1:c.-6-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||1/14|XM_047441106.1:c.-6-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||1/14|XM_047441107.1:c.25-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||1/9|XR_007067954.1:n.95-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||1/8|XR_007067955.1:n.67-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||1/9|XR_937806.3:n.96-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||1/9|XR_937807.3:n.96-923C>T|||||||rs184048188||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28735650G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=636;gnomADv4_1_AC_joint_XX=329;gnomADv4_1_AC_joint_XY=307;gnomADv4_1_AF_grpmax_joint=0.00656597;gnomADv4_1_AF_joint=0.00418879;gnomADv4_1_AF_joint_XX=0.00423904;gnomADv4_1_AF_joint_XY=0.00413624;gnomADv4_1_AN_grpmax_joint=67926;gnomADv4_1_AN_joint=151834;gnomADv4_1_AN_joint_XX=77612;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28735800 chr22_28735800_C_T C T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.076;CADD_Rawscore=0.001107;CSQ=T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||1/13|ENST00000348295.7:c.-6-1073G>A|||||||rs4352308||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||1/15|ENST00000382580.6:c.-6-1073G>A|||||||rs4352308||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||3/5|ENST00000398017.3:c.-6-1073G>A|||||||rs4352308||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||||||||||rs4352308|1073|-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||||||||||rs4352308|1079|-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||1/14|ENST00000404276.6:c.-6-1073G>A|||||||rs4352308||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||2/15|ENST00000405598.5:c.-6-1073G>A|||||||rs4352308||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||1/15|ENST00000416671.5:c.-6-1073G>A|||||||rs4352308||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||||||||||rs4352308|1079|-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-345+5969G>A|||||||rs4352308||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||1/9|ENST00000433028.6:c.-6-1073G>A|||||||rs4352308||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||||||||||rs4352308|1079|-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||1/6|ENST00000439200.5:c.-6-1073G>A|||||||rs4352308||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs4352308|1079|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||||||||||rs4352308|1079|-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||||||||||rs4352308|1073|-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+5969G>A|||||||rs4352308||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||1/3|ENST00000650233.1:c.-6-1073G>A|||||||rs4352308||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||2/15|ENST00000650281.1:c.-6-1073G>A|||||||rs4352308||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||1/12|ENST00000711048.1:c.-6-1073G>A|||||||rs4352308||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||C|C||1||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||1/15|NM_001005735.2:c.-6-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||1/15|NM_001257387.2:c.-783-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||1/13|NM_001349956.2:c.-6-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||1/14|NM_007194.4:c.-6-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||1/13|NM_145862.2:c.-6-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||C|C|OK|||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||1/15|XM_011529839.3:c.25-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||1/14|XM_011529840.4:c.25-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||1/13|XM_011529842.3:c.25-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||1/10|XM_011529844.3:c.25-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-345+5969G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||1/15|XM_017028560.2:c.25-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||1/14|XM_024452148.2:c.25-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||1/13|XM_024452149.2:c.25-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||1/15|XM_047441104.1:c.-6-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||1/14|XM_047441105.1:c.-6-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||1/14|XM_047441106.1:c.-6-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||1/14|XM_047441107.1:c.25-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||1/9|XR_007067954.1:n.95-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||1/8|XR_007067955.1:n.67-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||1/9|XR_937806.3:n.96-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||1/9|XR_937807.3:n.96-1073G>A|||||||rs4352308||-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28735800C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=102983;gnomADv4_1_AC_joint_XX=52365;gnomADv4_1_AC_joint_XY=50618;gnomADv4_1_AF_grpmax_joint=0.839092;gnomADv4_1_AF_joint=0.678672;gnomADv4_1_AF_joint_XX=0.674998;gnomADv4_1_AF_joint_XY=0.682514;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=151742;gnomADv4_1_AN_joint_XX=77578;gnomADv4_1_AN_joint_XY=74164;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=35569;gnomADv4_1_nhomalt_joint_XX=17957;gnomADv4_1_nhomalt_joint_XY=17612;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28736401 chr22_28736401_G_C G C 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.21;CADD_Rawscore=-0.414739;CSQ=C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||1/13|ENST00000348295.7:c.-6-1674C>G|||||||rs5762763||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||1/15|ENST00000382580.6:c.-6-1674C>G|||||||rs5762763||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||3/5|ENST00000398017.3:c.-7+859C>G|||||||rs5762763||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||||||||||rs5762763|1674|-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||||||||||rs5762763|1680|-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||1/14|ENST00000404276.6:c.-6-1674C>G|||||||rs5762763||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||2/15|ENST00000405598.5:c.-7+1484C>G|||||||rs5762763||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||1/15|ENST00000416671.5:c.-6-1674C>G|||||||rs5762763||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||||||||||rs5762763|1680|-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-345+5368C>G|||||||rs5762763||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||1/9|ENST00000433028.6:c.-6-1674C>G|||||||rs5762763||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||||||||||rs5762763|1680|-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||1/6|ENST00000439200.5:c.-6-1674C>G|||||||rs5762763||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs5762763|1680|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||||||||||rs5762763|1680|-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||||||||||rs5762763|1674|-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+5368C>G|||||||rs5762763||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||1/3|ENST00000650233.1:c.-6-1674C>G|||||||rs5762763||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||2/15|ENST00000650281.1:c.-6-1674C>G|||||||rs5762763||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||1/12|ENST00000711048.1:c.-6-1674C>G|||||||rs5762763||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||1/15|NM_001005735.2:c.-6-1674C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||1/15|NM_001257387.2:c.-783-1674C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||1/13|NM_001349956.2:c.-6-1674C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||1/14|NM_007194.4:c.-6-1674C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||1/13|NM_145862.2:c.-6-1674C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||1/15|XM_011529839.3:c.24+859C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||1/14|XM_011529840.4:c.24+859C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||1/13|XM_011529842.3:c.24+859C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||1/10|XM_011529844.3:c.24+859C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-345+5368C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||1/15|XM_017028560.2:c.24+859C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||1/14|XM_024452148.2:c.24+859C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||1/13|XM_024452149.2:c.24+859C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||1/15|XM_047441104.1:c.-6-1674C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||1/14|XM_047441105.1:c.-6-1674C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||1/14|XM_047441106.1:c.-6-1674C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||1/14|XM_047441107.1:c.24+859C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||1/9|XR_007067954.1:n.94+859C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||1/8|XR_007067955.1:n.67-1674C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||1/9|XR_937806.3:n.95+859C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||1/9|XR_937807.3:n.95+859C>G|||||||rs5762763||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28736401G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40814;gnomADv4_1_AC_joint_XX=21138;gnomADv4_1_AC_joint_XY=19676;gnomADv4_1_AF_grpmax_joint=0.414384;gnomADv4_1_AF_joint=0.268432;gnomADv4_1_AF_joint_XX=0.271906;gnomADv4_1_AF_joint_XY=0.264797;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6991;gnomADv4_1_nhomalt_joint_XX=3663;gnomADv4_1_nhomalt_joint_XY=3328;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28737002 chr22_28737002_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.647;CADD_Rawscore=0.333835;CSQ=G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||1/13|ENST00000348295.7:c.-6-2275T>C|||||||rs5762764||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||1/15|ENST00000382580.6:c.-6-2275T>C|||||||rs5762764||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||3/5|ENST00000398017.3:c.-7+258T>C|||||||rs5762764||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||||||||||rs5762764|2275|-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||||||||||rs5762764|2281|-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||1/14|ENST00000404276.6:c.-6-2275T>C|||||||rs5762764||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||2/15|ENST00000405598.5:c.-7+883T>C|||||||rs5762764||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||1/15|ENST00000416671.5:c.-6-2275T>C|||||||rs5762764||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||||||||||rs5762764|2281|-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-345+4767T>C|||||||rs5762764||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||1/9|ENST00000433028.6:c.-6-2275T>C|||||||rs5762764||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||||||||||rs5762764|2281|-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||1/6|ENST00000439200.5:c.-6-2275T>C|||||||rs5762764||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs5762764|2281|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||||||||||rs5762764|2281|-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||||||||||rs5762764|2275|-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+4767T>C|||||||rs5762764||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||1/3|ENST00000650233.1:c.-6-2275T>C|||||||rs5762764||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||2/15|ENST00000650281.1:c.-7+1080T>C|||||||rs5762764||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||1/12|ENST00000711048.1:c.-6-2275T>C|||||||rs5762764||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||1/15|NM_001005735.2:c.-6-2275T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||1/15|NM_001257387.2:c.-783-2275T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||1/13|NM_001349956.2:c.-6-2275T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||1/14|NM_007194.4:c.-6-2275T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||1/13|NM_145862.2:c.-6-2275T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||1/15|XM_011529839.3:c.24+258T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||1/14|XM_011529840.4:c.24+258T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||1/13|XM_011529842.3:c.24+258T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||1/10|XM_011529844.3:c.24+258T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-345+4767T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||1/15|XM_017028560.2:c.24+258T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||1/14|XM_024452148.2:c.24+258T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||1/13|XM_024452149.2:c.24+258T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||1/15|XM_047441104.1:c.-6-2275T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||1/14|XM_047441105.1:c.-6-2275T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||1/14|XM_047441106.1:c.-6-2275T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||1/14|XM_047441107.1:c.24+258T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||1/9|XR_007067954.1:n.94+258T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||1/8|XR_007067955.1:n.67-2275T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||1/9|XR_937806.3:n.95+258T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||1/9|XR_937807.3:n.95+258T>C|||||||rs5762764||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28737002A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001349956.2,NM_007194.4,NM_145862.2,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43778;gnomADv4_1_AC_joint_XX=22717;gnomADv4_1_AC_joint_XY=21061;gnomADv4_1_AF_grpmax_joint=0.414966;gnomADv4_1_AF_joint=0.288248;gnomADv4_1_AF_joint_XX=0.292617;gnomADv4_1_AF_joint_XY=0.28368;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151876;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7310;gnomADv4_1_nhomalt_joint_XX=3843;gnomADv4_1_nhomalt_joint_XY=3467;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28737045 chr22_28737045_G_C G C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.253;CADD_Rawscore=-0.365406;CSQ=C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs5762765|4994|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||1/13|ENST00000348295.7:c.-6-2318C>G|||||||rs5762765||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||1/15|ENST00000382580.6:c.-6-2318C>G|||||||rs5762765||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||3/5|ENST00000398017.3:c.-7+215C>G|||||||rs5762765||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||||||||||rs5762765|2318|-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||||||||||rs5762765|2324|-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||1/14|ENST00000404276.6:c.-6-2318C>G|||||||rs5762765||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||2/15|ENST00000405598.5:c.-7+840C>G|||||||rs5762765||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||1/15|ENST00000416671.5:c.-6-2318C>G|||||||rs5762765||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||||||||||rs5762765|2324|-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-345+4724C>G|||||||rs5762765||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||1/9|ENST00000433028.6:c.-6-2318C>G|||||||rs5762765||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||||||||||rs5762765|2324|-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||1/6|ENST00000439200.5:c.-6-2318C>G|||||||rs5762765||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs5762765|2324|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||||||||||rs5762765|2324|-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs5762765|4997|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||||||||||rs5762765|2318|-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+4724C>G|||||||rs5762765||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||1/3|ENST00000650233.1:c.-6-2318C>G|||||||rs5762765||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||2/15|ENST00000650281.1:c.-7+1037C>G|||||||rs5762765||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||1/12|ENST00000711048.1:c.-6-2318C>G|||||||rs5762765||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||1/15|NM_001005735.2:c.-6-2318C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||1/15|NM_001257387.2:c.-783-2318C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs5762765|4994|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs5762765|4994|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||1/13|NM_001349956.2:c.-6-2318C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs5762765|4987|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||1/14|NM_007194.4:c.-6-2318C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||1/13|NM_145862.2:c.-6-2318C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28737045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs5762765|4994|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs5762765|4994|1||EntrezGene|HGNC:28913|||||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs5762765|4994|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||1/15|XM_011529839.3:c.24+215C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||1/14|XM_011529840.4:c.24+215C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||1/13|XM_011529842.3:c.24+215C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||1/10|XM_011529844.3:c.24+215C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-345+4724C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||1/15|XM_017028560.2:c.24+215C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||1/14|XM_024452148.2:c.24+215C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||1/13|XM_024452149.2:c.24+215C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||1/15|XM_047441104.1:c.-6-2318C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||1/14|XM_047441105.1:c.-6-2318C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||1/14|XM_047441106.1:c.-6-2318C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||1/14|XM_047441107.1:c.24+215C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||1/9|XR_007067954.1:n.94+215C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||1/8|XR_007067955.1:n.67-2318C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||1/9|XR_937806.3:n.95+215C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||1/9|XR_937807.3:n.95+215C>G|||||||rs5762765||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28737045G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216027,ENST00000348295,ENST00000382580,ENST00000398017,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000450178,ENST00000454252,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001318314.2,NM_001318315.2,NM_001349956.2,NM_001363856.1,NM_007194.4,NM_145862.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,150274,150274,11200,150274,11200,11200,150274,150274,150274,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,HSCB,CHEK2,HSCB,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41068;gnomADv4_1_AC_joint_XX=21317;gnomADv4_1_AC_joint_XY=19751;gnomADv4_1_AF_grpmax_joint=0.411565;gnomADv4_1_AF_joint=0.27027;gnomADv4_1_AF_joint_XX=0.274477;gnomADv4_1_AF_joint_XY=0.265871;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151952;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6996;gnomADv4_1_nhomalt_joint_XX=3680;gnomADv4_1_nhomalt_joint_XY=3316;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28738571 chr22_28738571_G_C G C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=6.049;CADD_Rawscore=0.558143;CSQ=C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs9608698|3468|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||1/13|ENST00000348295.7:c.-7+3198C>G|||||||rs9608698||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||1/15|ENST00000382580.6:c.-7+3198C>G|||||||rs9608698||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||1/5|ENST00000398017.3:c.-193-533C>G|||||||rs9608698||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||||||||||rs9608698|3484|1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||||||||||rs9608698|3844|-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||||||||||rs9608698|3850|-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||1/14|ENST00000404276.6:c.-7+3198C>G|||||||rs9608698||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||1/15|ENST00000405598.5:c.-160-533C>G|||||||rs9608698||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||1/15|ENST00000416671.5:c.-7+3198C>G|||||||rs9608698||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||||||||||rs9608698|3850|-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||||||||||rs9608698|3490|1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-345+3198C>G|||||||rs9608698||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||1/9|ENST00000433028.6:c.-7+3198C>G|||||||rs9608698||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||||||||||rs9608698|3850|-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||1/6|ENST00000439200.5:c.-7+3198C>G|||||||rs9608698||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs9608698|3850|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||||||||||rs9608698|3850|-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs9608698|3471|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||||||||||rs9608698|3844|-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||||||||||rs9608698|4108|1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs9608698|3580|1||HGNC|HGNC:28913|5||||||||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||||||||||rs9608698|4130|1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+3198C>G|||||||rs9608698||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||1/3|ENST00000650233.1:c.-7+3211C>G|||||||rs9608698||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||1/15|ENST00000650281.1:c.-122-374C>G|||||||rs9608698||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||1/12|ENST00000711048.1:c.-7+3198C>G|||||||rs9608698||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||1/15|NM_001005735.2:c.-7+3198C>G|||||||rs9608698||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||1/15|NM_001257387.2:c.-784+3198C>G|||||||rs9608698||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs9608698|3468|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs9608698|3468|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||||||||||rs9608698|4110|1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||1/13|NM_001349956.2:c.-7+3198C>G|||||||rs9608698||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs9608698|3461|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||1/14|NM_007194.4:c.-7+3198C>G|||||||rs9608698||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||1/13|NM_145862.2:c.-7+3198C>G|||||||rs9608698||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs9608698|3468|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs9608698|3468|1||EntrezGene|HGNC:28913|||||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs9608698|3468|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|5_prime_UTR_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding|1/16||XM_011529839.3:c.-1288C>G||256|||||rs9608698||-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||0|1|21||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||||||||||rs9608698|1225|-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||||||||||rs9608698|1229|-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||||||||||rs9608698|1217|-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-345+3198C>G|||||||rs9608698||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||||||||||rs9608698|1229|-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||||||||||rs9608698|4110|1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|5_prime_UTR_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding|1/15||XM_024452148.2:c.-1288C>G||254|||||rs9608698||-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||0|1|21||,C|5_prime_UTR_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding|1/14||XM_024452149.2:c.-1288C>G||255|||||rs9608698||-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||0|1|21||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||1/15|XM_047441104.1:c.-7+3198C>G|||||||rs9608698||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||1/14|XM_047441105.1:c.-7+3198C>G|||||||rs9608698||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||1/14|XM_047441106.1:c.-7+3198C>G|||||||rs9608698||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||||||||||rs9608698|1225|-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||||||||||rs9608698|1218|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||1/8|XR_007067955.1:n.66+3198C>G|||||||rs9608698||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs9608698|1217|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||||||||||rs9608698|1217|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28738571G>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216027,ENST00000348295,ENST00000382580,ENST00000398017,ENST00000398941,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000420442,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000450178,ENST00000454252,ENST00000483861,ENST00000485599,ENST00000495977,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001349956.2,NM_001363856.1,NM_007194.4,NM_145862.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_017028620.3,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,150274,150274,150274,11200,150274,11200,11200,150274,150274,150274,11200,11200,11200,11200,11200,11200,150274,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,HSCB,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,0,0,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,1,.,.,.,.,.,.,1,1,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,21,21,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59259;gnomADv4_1_AC_joint_XX=30561;gnomADv4_1_AC_joint_XY=28698;gnomADv4_1_AF_grpmax_joint=0.54132;gnomADv4_1_AF_joint=0.389887;gnomADv4_1_AF_joint_XX=0.393331;gnomADv4_1_AF_joint_XY=0.386287;gnomADv4_1_AN_grpmax_joint=67958;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14158;gnomADv4_1_nhomalt_joint_XX=7389;gnomADv4_1_nhomalt_joint_XY=6769;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28739133 chr22_28739133_G_C G C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.634;CADD_Rawscore=0.110528;CSQ=C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs9613668|2906|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||1/13|ENST00000348295.7:c.-7+2636C>G|||||||rs9613668||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||1/15|ENST00000382580.6:c.-7+2636C>G|||||||rs9613668||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||1/5|ENST00000398017.3:c.-193-1095C>G|||||||rs9613668||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||||||||||rs9613668|2922|1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000402731|protein_coding||||||||||rs9613668|4406|-1||HGNC|HGNC:16627|1|CCDS93141.1|ENSP00000384835||A0A7P0MUT5.13|UPI000047F6A7|||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000403642|protein_coding||||||||||rs9613668|4412|-1||HGNC|HGNC:16627|1||ENSP00000384919|O96017.248||UPI000034E4A8|O96017-4||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||1/14|ENST00000404276.6:c.-7+2636C>G|||||||rs9613668||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||1/15|ENST00000405598.5:c.-160-1095C>G|||||||rs9613668||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||1/15|ENST00000416671.5:c.-7+2636C>G|||||||rs9613668||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000417588|nonsense_mediated_decay||||||||||rs9613668|4412|-1||HGNC|HGNC:16627|2||ENSP00000412901|O96017.248||UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||||||||||rs9613668|2928|1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-345+2636C>G|||||||rs9613668||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||1/9|ENST00000433028.6:c.-7+2636C>G|||||||rs9613668||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433728|nonsense_mediated_decay||||||||||rs9613668|4412|-1||HGNC|HGNC:16627|2||ENSP00000404400|O96017.248||UPI000034E4A4|O96017-8||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||1/6|ENST00000439200.5:c.-7+2636C>G|||||||rs9613668||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439346|nonsense_mediated_decay||||||||||rs9613668|4412|-1||HGNC|HGNC:16627|4||ENSP00000396903|O96017.248|H7C0V7.60|UPI000034E4A7|O96017-5||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000448511|nonsense_mediated_decay||||||||||rs9613668|4412|-1||HGNC|HGNC:16627|2||ENSP00000404567|O96017.248||UPI000034E4A6|O96017-6||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs9613668|2909|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000454252|nonsense_mediated_decay||||||||||rs9613668|4406|-1||HGNC|HGNC:16627|3||ENSP00000387451||H7BZ30.48||||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||||||||||rs9613668|3546|1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs9613668|3018|1||HGNC|HGNC:28913|5||||||||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||||||||||rs9613668|3568|1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+2636C>G|||||||rs9613668||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||1/3|ENST00000650233.1:c.-7+2649C>G|||||||rs9613668||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||1/15|ENST00000650281.1:c.-122-936C>G|||||||rs9613668||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||1/12|ENST00000711048.1:c.-7+2636C>G|||||||rs9613668||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||1/15|NM_001005735.2:c.-7+2636C>G|||||||rs9613668||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||1/15|NM_001257387.2:c.-784+2636C>G|||||||rs9613668||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs9613668|2906|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs9613668|2906|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||||||||||rs9613668|3548|1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||1/13|NM_001349956.2:c.-7+2636C>G|||||||rs9613668||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs9613668|2899|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||1/14|NM_007194.4:c.-7+2636C>G|||||||rs9613668||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||1/13|NM_145862.2:c.-7+2636C>G|||||||rs9613668||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs9613668|2906|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs9613668|2906|1||EntrezGene|HGNC:28913|||||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs9613668|2906|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||||||||||rs9613668|307|-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||||||||||rs9613668|1787|-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||||||||||rs9613668|1791|-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||||||||||rs9613668|1779|-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-345+2636C>G|||||||rs9613668||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||||||||||rs9613668|1791|-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||||||||||rs9613668|3548|1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||||||||||rs9613668|309|-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||||||||||rs9613668|308|-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||1/15|XM_047441104.1:c.-7+2636C>G|||||||rs9613668||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||1/14|XM_047441105.1:c.-7+2636C>G|||||||rs9613668||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||1/14|XM_047441106.1:c.-7+2636C>G|||||||rs9613668||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||||||||||rs9613668|1787|-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||||||||||rs9613668|1780|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||1/8|XR_007067955.1:n.66+2636C>G|||||||rs9613668||-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs9613668|1779|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||||||||||rs9613668|1779|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28739133G>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216027,ENST00000348295,ENST00000382580,ENST00000398017,ENST00000398941,ENST00000402731,ENST00000403642,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000417588,ENST00000420442,ENST00000425190,ENST00000433028,ENST00000433728,ENST00000439200,ENST00000439346,ENST00000448511,ENST00000450178,ENST00000454252,ENST00000483861,ENST00000485599,ENST00000495977,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001349956.2,NM_001363856.1,NM_007194.4,NM_145862.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_017028620.3,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,150274,150274,150274,11200,150274,11200,11200,150274,150274,150274,11200,11200,11200,11200,11200,11200,150274,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,HSCB,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77818;gnomADv4_1_AC_joint_XX=40348;gnomADv4_1_AC_joint_XY=37470;gnomADv4_1_AF_grpmax_joint=0.565287;gnomADv4_1_AF_joint=0.512635;gnomADv4_1_AF_joint_XX=0.519814;gnomADv4_1_AF_joint_XY=0.505123;gnomADv4_1_AN_grpmax_joint=67916;gnomADv4_1_AN_joint=151800;gnomADv4_1_AN_joint_XX=77620;gnomADv4_1_AN_joint_XY=74180;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=20565;gnomADv4_1_nhomalt_joint_XX=10776;gnomADv4_1_nhomalt_joint_XY=9789;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28739901 chr22_28739901_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=11.02;CADD_Rawscore=1.06272;CSQ=C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs5762766|2138|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||1/13|ENST00000348295.7:c.-7+1868A>G|||||||rs5762766||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||1/15|ENST00000382580.6:c.-7+1868A>G|||||||rs5762766||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||1/5|ENST00000398017.3:c.-193-1863A>G|||||||rs5762766||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||||||||||rs5762766|2154|1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||1/14|ENST00000404276.6:c.-7+1868A>G|||||||rs5762766||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||1/15|ENST00000405598.5:c.-160-1863A>G|||||||rs5762766||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||1/15|ENST00000416671.5:c.-7+1868A>G|||||||rs5762766||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||||||||||rs5762766|2160|1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-345+1868A>G|||||||rs5762766||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||1/9|ENST00000433028.6:c.-7+1868A>G|||||||rs5762766||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||1/6|ENST00000439200.5:c.-7+1868A>G|||||||rs5762766||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs5762766|2141|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||||||||||rs5762766|2778|1||HGNC|HGNC:28913|3||||||||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs5762766|2250|1||HGNC|HGNC:28913|5||||||||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||||||||||rs5762766|2800|1||HGNC|HGNC:28913|3||||||||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+1868A>G|||||||rs5762766||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||1/3|ENST00000650233.1:c.-7+1881A>G|||||||rs5762766||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||1/15|ENST00000650281.1:c.-122-1704A>G|||||||rs5762766||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||1/12|ENST00000711048.1:c.-7+1868A>G|||||||rs5762766||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||T|T||1||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||1/15|NM_001005735.2:c.-7+1868A>G|||||||rs5762766||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||1/15|NM_001257387.2:c.-784+1868A>G|||||||rs5762766||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs5762766|2138|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs5762766|2138|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||||||||||rs5762766|2780|1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||1/13|NM_001349956.2:c.-7+1868A>G|||||||rs5762766||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs5762766|2131|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||1/14|NM_007194.4:c.-7+1868A>G|||||||rs5762766||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||1/13|NM_145862.2:c.-7+1868A>G|||||||rs5762766||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||T|T|OK|||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs5762766|2138|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs5762766|2138|1||EntrezGene|HGNC:28913|||||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs5762766|2138|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||||||||||rs5762766|1075|-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||||||||||rs5762766|2555|-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||||||||||rs5762766|2559|-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||||||||||rs5762766|2547|-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-345+1868A>G|||||||rs5762766||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||||||||||rs5762766|2559|-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||||||||||rs5762766|2780|1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||||||||||rs5762766|1077|-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||||||||||rs5762766|1076|-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||1/15|XM_047441104.1:c.-7+1868A>G|||||||rs5762766||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||1/14|XM_047441105.1:c.-7+1868A>G|||||||rs5762766||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||1/14|XM_047441106.1:c.-7+1868A>G|||||||rs5762766||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||||||||||rs5762766|2555|-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||||||||||rs5762766|2548|-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||1/8|XR_007067955.1:n.66+1868A>G|||||||rs5762766||-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs5762766|2547|-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||||||||||rs5762766|2547|-1||EntrezGene|HGNC:16627|||||||||RefSeq||T|T||||chr22:g.28739901T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216027,ENST00000348295,ENST00000382580,ENST00000398017,ENST00000398941,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000420442,ENST00000425190,ENST00000433028,ENST00000439200,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001349956.2,NM_001363856.1,NM_007194.4,NM_145862.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_017028620.3,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,150274,150274,150274,11200,150274,11200,11200,150274,150274,150274,11200,11200,11200,11200,11200,11200,150274,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,HSCB,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35989;gnomADv4_1_AC_joint_XX=18027;gnomADv4_1_AC_joint_XY=17962;gnomADv4_1_AF_grpmax_joint=0.481172;gnomADv4_1_AF_joint=0.236701;gnomADv4_1_AF_joint_XX=0.23193;gnomADv4_1_AF_joint_XY=0.241691;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4627;gnomADv4_1_nhomalt_joint_XX=2248;gnomADv4_1_nhomalt_joint_XY=2379;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28741169 chr22_28741169_A_G A G 25 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=25;CADD_PHREDscore=3.759;CADD_Rawscore=0.343887;CSQ=G|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs9608699|870|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||1/13|ENST00000348295.7:c.-7+600T>C|||||||rs9608699||-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||1/15|ENST00000382580.6:c.-7+600T>C|||||||rs9608699||-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||1/5|ENST00000398017.3:c.-194+600T>C|||||||rs9608699||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||||||||||rs9608699|886|1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||1/14|ENST00000404276.6:c.-7+600T>C|||||||rs9608699||-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||1/15|ENST00000405598.5:c.-161+600T>C|||||||rs9608699||-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||1/15|ENST00000416671.5:c.-7+600T>C|||||||rs9608699||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||||||||||rs9608699|892|1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||1/13|ENST00000425190.7:c.-345+600T>C|||||||rs9608699||-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||1/9|ENST00000433028.6:c.-7+600T>C|||||||rs9608699||-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||1/6|ENST00000439200.5:c.-7+600T>C|||||||rs9608699||-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs9608699|873|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||||||||||rs9608699|1510|1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs9608699|982|1||HGNC|HGNC:28913|5||||||||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||||||||||rs9608699|1532|1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||1/11|ENST00000649563.1:c.-72+600T>C|||||||rs9608699||-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||1/3|ENST00000650233.1:c.-7+613T>C|||||||rs9608699||-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||1/15|ENST00000650281.1:c.-123+600T>C|||||||rs9608699||-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||1/12|ENST00000711048.1:c.-7+600T>C|||||||rs9608699||-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||1/15|NM_001005735.2:c.-7+600T>C|||||||rs9608699||-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||1/15|NM_001257387.2:c.-784+600T>C|||||||rs9608699||-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs9608699|870|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs9608699|870|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||||||||||rs9608699|1512|1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||1/13|NM_001349956.2:c.-7+600T>C|||||||rs9608699||-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs9608699|863|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||1/14|NM_007194.4:c.-7+600T>C|||||||rs9608699||-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||1/13|NM_145862.2:c.-7+600T>C|||||||rs9608699||-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs9608699|870|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs9608699|870|1||EntrezGene|HGNC:28913|||||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs9608699|870|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||||||||||rs9608699|2343|-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||||||||||rs9608699|3823|-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||||||||||rs9608699|3827|-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||||||||||rs9608699|3815|-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||1/13|XM_011529845.3:c.-345+600T>C|||||||rs9608699||-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||||||||||rs9608699|3827|-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||||||||||rs9608699|1512|1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||||||||||rs9608699|2345|-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||||||||||rs9608699|2344|-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||1/15|XM_047441104.1:c.-7+600T>C|||||||rs9608699||-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||1/14|XM_047441105.1:c.-7+600T>C|||||||rs9608699||-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|intron_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||1/14|XM_047441106.1:c.-7+600T>C|||||||rs9608699||-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||||||||||rs9608699|3823|-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||||||||||rs9608699|3816|-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||1/8|XR_007067955.1:n.66+600T>C|||||||rs9608699||-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs9608699|3815|-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||||||||||rs9608699|3815|-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28741169A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216027,ENST00000348295,ENST00000382580,ENST00000398017,ENST00000398941,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000420442,ENST00000425190,ENST00000433028,ENST00000439200,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001349956.2,NM_001363856.1,NM_007194.4,NM_145862.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_017028620.3,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,150274,150274,150274,11200,150274,11200,11200,150274,150274,150274,11200,11200,11200,11200,11200,11200,150274,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200;VEP_SYMBOL=HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,HSCB,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71066;gnomADv4_1_AC_joint_XX=37537;gnomADv4_1_AC_joint_XY=33529;gnomADv4_1_AF_grpmax_joint=0.600375;gnomADv4_1_AF_joint=0.519473;gnomADv4_1_AF_joint_XX=0.529048;gnomADv4_1_AF_joint_XY=0.509157;gnomADv4_1_AN_grpmax_joint=62874;gnomADv4_1_AN_joint=136804;gnomADv4_1_AN_joint_XX=70952;gnomADv4_1_AN_joint_XY=65852;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=19697;gnomADv4_1_nhomalt_joint_XX=10468;gnomADv4_1_nhomalt_joint_XY=9229;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28741882 chr22_28741882_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=10.4;CADD_Rawscore=1.00633;CSQ=T|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs2236141|157|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||||||||||rs2236141|48|-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||||||||||rs2236141|44|-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||||||||||rs2236141|80|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||||||||||rs2236141|173|1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||||||||||rs2236141|62|-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||||||||||rs2236141|82|-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|5_prime_UTR_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay|1/16||ENST00000416671.5:c.-120G>A||541|||||rs2236141||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||0|0|2||,T|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||||||||||rs2236141|179|1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||||||||||rs2236141|71|-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs2236141|76|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs2236141|99|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs2236141|160|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||||||||||rs2236141|797|1||HGNC|HGNC:28913|3||||||||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs2236141|269|1||HGNC|HGNC:28913|5||||||||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||||||||||rs2236141|819|1||HGNC|HGNC:28913|3||||||||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||||||||||rs2236141|76|-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||||||||||rs2236141|62|-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||||||||||rs2236141|76|-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||||||||||rs2236141|69|-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||C|C||1||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||||||||||rs2236141|62|-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||||||||||rs2236141|62|-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs2236141|157|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs2236141|157|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||||||||||rs2236141|799|1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||||||||||rs2236141|62|-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs2236141|150|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||||||||||rs2236141|62|-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||||||||||rs2236141|48|-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||C|C|OK|||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs2236141|157|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs2236141|157|1||EntrezGene|HGNC:28913|||||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs2236141|157|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||||||||||rs2236141|3056|-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||||||||||rs2236141|4536|-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||||||||||rs2236141|4540|-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||||||||||rs2236141|4528|-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||||||||||rs2236141|48|-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||||||||||rs2236141|4540|-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||||||||||rs2236141|799|1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||||||||||rs2236141|3058|-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||||||||||rs2236141|3057|-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||||||||||rs2236141|48|-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||||||||||rs2236141|48|-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||||||||||rs2236141|48|-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||||||||||rs2236141|4536|-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||||||||||rs2236141|4529|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs2236141|48|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs2236141|4528|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||||||||||rs2236141|4528|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28741882C>T|benign||1||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FF2J|promoter||||||||||rs2236141|||||||||||||||||||||chr22:g.28741882C>T|benign||1||||||||||;ClinVar_CLNDN=not_provided|Familial_cancer_of_breast;ClinVar_CLNHGVS=NC_000022.11:g.28741882C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=CHEK2:11200;ClinVar_Variation_ID=1167537;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216027,ENST00000348295,ENST00000382580,ENST00000398017,ENST00000398941,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000420442,ENST00000425190,ENST00000433028,ENST00000439200,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001349956.2,NM_001363856.1,NM_007194.4,NM_145862.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_017028620.3,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3,ENSR22_9FF2J;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,150274,150274,150274,11200,150274,11200,11200,150274,150274,150274,11200,11200,11200,11200,11200,11200,150274,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,.;VEP_SYMBOL=HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,HSCB,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84725;gnomADv4_1_AC_joint_XX=38983;gnomADv4_1_AC_joint_XY=45742;gnomADv4_1_AF_grpmax_joint=0.282077;gnomADv4_1_AF_joint=0.140509;gnomADv4_1_AF_joint_XX=0.133576;gnomADv4_1_AF_joint_XY=0.147012;gnomADv4_1_AN_grpmax_joint=49802;gnomADv4_1_AN_joint=602986;gnomADv4_1_AN_joint_XX=291842;gnomADv4_1_AN_joint_XY=311144;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=7294;gnomADv4_1_nhomalt_joint_XX=3148;gnomADv4_1_nhomalt_joint_XY=4146;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28741956 chr22_28741956_G_C G C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=7.468;CADD_Rawscore=0.70947;CSQ=C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs2236142|83|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||||||||||rs2236142|122|-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||||||||||rs2236142|118|-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||||||||||rs2236142|154|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||||||||||rs2236142|99|1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||||||||||rs2236142|136|-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||||||||||rs2236142|156|-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|5_prime_UTR_variant&NMD_transcript_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay|1/16||ENST00000416671.5:c.-194C>G||467|||||rs2236142||-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||0|0|2||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||||||||||rs2236142|105|1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||||||||||rs2236142|145|-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs2236142|150|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs2236142|173|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs2236142|86|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||||||||||rs2236142|723|1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs2236142|195|1||HGNC|HGNC:28913|5||||||||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||||||||||rs2236142|745|1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||||||||||rs2236142|150|-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||||||||||rs2236142|136|-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||||||||||rs2236142|150|-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||||||||||rs2236142|143|-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||||||||||rs2236142|136|-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||||||||||rs2236142|136|-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs2236142|83|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs2236142|83|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||||||||||rs2236142|725|1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||||||||||rs2236142|136|-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs2236142|76|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||||||||||rs2236142|136|-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||||||||||rs2236142|122|-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs2236142|83|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs2236142|83|1||EntrezGene|HGNC:28913|||||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs2236142|83|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529839.3|protein_coding||||||||||rs2236142|3130|-1||EntrezGene|HGNC:16627|||XP_011528141.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529840.4|protein_coding||||||||||rs2236142|4610|-1||EntrezGene|HGNC:16627|||XP_011528142.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529842.3|protein_coding||||||||||rs2236142|4614|-1||EntrezGene|HGNC:16627|||XP_011528144.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529844.3|protein_coding||||||||||rs2236142|4602|-1||EntrezGene|HGNC:16627|||XP_011528146.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||||||||||rs2236142|122|-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_017028560.2|protein_coding||||||||||rs2236142|4614|-1||EntrezGene|HGNC:16627|||XP_016884049.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||||||||||rs2236142|725|1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452148.2|protein_coding||||||||||rs2236142|3132|-1||EntrezGene|HGNC:16627|||XP_024307916.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_024452149.2|protein_coding||||||||||rs2236142|3131|-1||EntrezGene|HGNC:16627|||XP_024307917.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||||||||||rs2236142|122|-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||||||||||rs2236142|122|-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||||||||||rs2236142|122|-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441107.1|protein_coding||||||||||rs2236142|4610|-1||EntrezGene|HGNC:16627|||XP_047297063.1||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067954.1|misc_RNA||||||||||rs2236142|4603|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs2236142|122|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937806.3|misc_RNA||||||||||rs2236142|4602|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_937807.3|misc_RNA||||||||||rs2236142|4602|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28741956G>C|benign||1||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FF2J|promoter||||||||||rs2236142|||||||||||||||||||||chr22:g.28741956G>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.28741956G>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=CHEK2:11200;ClinVar_Variation_ID=1268378;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216027,ENST00000348295,ENST00000382580,ENST00000398017,ENST00000398941,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000420442,ENST00000425190,ENST00000433028,ENST00000439200,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001349956.2,NM_001363856.1,NM_007194.4,NM_145862.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_011529839.3,XM_011529840.4,XM_011529842.3,XM_011529844.3,XM_011529845.3,XM_017028560.2,XM_017028620.3,XM_024452148.2,XM_024452149.2,XM_047441104.1,XM_047441105.1,XM_047441106.1,XM_047441107.1,XR_007067954.1,XR_007067955.1,XR_937806.3,XR_937807.3,ENSR22_9FF2J;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,150274,150274,150274,11200,150274,11200,11200,150274,150274,150274,11200,11200,11200,11200,11200,11200,150274,11200,11200,11200,11200,11200,11200,11200,11200,11200,11200,.;VEP_SYMBOL=HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,HSCB,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=539444;gnomADv4_1_AC_joint_XX=269003;gnomADv4_1_AC_joint_XY=270441;gnomADv4_1_AF_grpmax_joint=0.712397;gnomADv4_1_AF_joint=0.637598;gnomADv4_1_AF_joint_XX=0.6458;gnomADv4_1_AF_joint_XY=0.629644;gnomADv4_1_AN_grpmax_joint=58758;gnomADv4_1_AN_joint=846056;gnomADv4_1_AN_joint_XX=416542;gnomADv4_1_AN_joint_XY=429514;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=176623;gnomADv4_1_nhomalt_joint_XX=88908;gnomADv4_1_nhomalt_joint_XY=87715;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28744835 chr22_28744835_A_C A C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.265;CADD_Rawscore=0.043495;CSQ=C|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||3/5|ENST00000216027.8:c.423+131A>C|||||||rs5752783||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||||||||||rs5752783|3001|-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||||||||||rs5752783|2997|-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||||||||||rs5752783|3033|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||3/4|ENST00000398941.6:c.428+126A>C|||||||rs5752783||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||||||||||rs5752783|3015|-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||||||||||rs5752783|3035|-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||||||||||rs5752783|2413|-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||3/5|ENST00000420442.5:c.428+126A>C|||||||rs5752783||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||||||||||rs5752783|3024|-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs5752783|3029|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs5752783|3052|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||3/5|ENST00000450178.5:c.*50+131A>C|||||||rs5752783||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||3/5|ENST00000483861.5:n.237+131A>C|||||||rs5752783||1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||3/3|ENST00000485599.5:n.368+131A>C|||||||rs5752783||1||HGNC|HGNC:28913|5||||||||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||3/5|ENST00000495977.1:n.220+126A>C|||||||rs5752783||1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||||||||||rs5752783|3029|-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||||||||||rs5752783|3015|-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||||||||||rs5752783|3029|-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||||||||||rs5752783|3022|-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||||||||||rs5752783|3015|-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||||||||||rs5752783|3015|-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28744835A>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||3/4|NM_001318314.2:c.423+131A>C|||||||rs5752783||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||A|A||||chr22:g.28744835A>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||3/4|NM_001318315.2:c.428+126A>C|||||||rs5752783||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||A|A||||chr22:g.28744835A>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||3/5|NM_001318316.2:c.-46+126A>C|||||||rs5752783||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||A|A||||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||||||||||rs5752783|3015|-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28744835A>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||3/3|NM_001363856.1:c.428+126A>C|||||||rs5752783||1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||A|A||||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||||||||||rs5752783|3015|-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||||||||||rs5752783|3001|-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28744835A>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||3/5|NM_172002.5:c.423+131A>C|||||||rs5752783||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||A|A||||chr22:g.28744835A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||3/5|NR_134560.2:n.425+131A>C|||||||rs5752783||1||EntrezGene|HGNC:28913|||||||||RefSeq||A|A||||chr22:g.28744835A>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||3/5|XM_005261359.5:c.387+131A>C|||||||rs5752783||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||A|A||||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||||||||||rs5752783|3001|-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28744835A>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||3/5|XM_017028620.3:c.-46+131A>C|||||||rs5752783||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||A|A||||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||||||||||rs5752783|3001|-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||||||||||rs5752783|3001|-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||||||||||rs5752783|3001|-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28744835A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs5752783|3001|-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28744835A>C|||||||||||||;SpliceAI=C|HSCB|0.00|0.00|0.00|0.00|9|-49|19|-34;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216027,ENST00000348295,ENST00000382580,ENST00000398017,ENST00000398941,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000420442,ENST00000425190,ENST00000433028,ENST00000439200,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001349956.2,NM_001363856.1,NM_007194.4,NM_145862.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_011529845.3,XM_017028620.3,XM_047441104.1,XM_047441105.1,XM_047441106.1,XR_007067955.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,150274,150274,150274,11200,150274,11200,11200,150274,150274,150274,11200,150274,11200,11200,11200,11200;VEP_SYMBOL=HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,HSCB,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=325990;gnomADv4_1_AC_joint_XX=151341;gnomADv4_1_AC_joint_XY=174649;gnomADv4_1_AF_grpmax_joint=0.795516;gnomADv4_1_AF_joint=0.459336;gnomADv4_1_AF_joint_XX=0.447943;gnomADv4_1_AF_joint_XY=0.469689;gnomADv4_1_AN_grpmax_joint=39074;gnomADv4_1_AN_joint=709698;gnomADv4_1_AN_joint_XX=337858;gnomADv4_1_AN_joint_XY=371840;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=81465;gnomADv4_1_nhomalt_joint_XX=36673;gnomADv4_1_nhomalt_joint_XY=44792;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28745055 chr22_28745055_C_CA C CA 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=0.621;CADDIndel_Rawscore=-0.138989;CSQ=A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||3/5|ENST00000216027.8:c.423+368dup|||||||rs35101545||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl|||||1|17|chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||||||||||rs35101545|3221|-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl|||||1||chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||||||||||rs35101545|3217|-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl|||||1||chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||||||||||rs35101545|3253|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl|||||1||chr22:g.28745072dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||3/4|ENST00000398941.6:c.428+363dup|||||||rs35101545||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl|||||1|17|chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||||||||||rs35101545|3235|-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||||||||||rs35101545|3255|-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||||||||||rs35101545|2633|-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl|||||1||chr22:g.28745072dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||3/5|ENST00000420442.5:c.428+363dup|||||||rs35101545||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl|||||1|17|chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||||||||||rs35101545|3244|-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs35101545|3249|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl|||||1||chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs35101545|3272|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl|||||1||chr22:g.28745072dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||3/5|ENST00000450178.5:c.*50+368dup|||||||rs35101545||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl|||||1|17|chr22:g.28745072dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||3/5|ENST00000483861.5:n.237+368dup|||||||rs35101545||1||HGNC|HGNC:28913|3||||||||Ensembl|||||1|17|chr22:g.28745072dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||3/3|ENST00000485599.5:n.369-184dup|||||||rs35101545||1||HGNC|HGNC:28913|5||||||||Ensembl|||||1|17|chr22:g.28745072dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||3/5|ENST00000495977.1:n.220+363dup|||||||rs35101545||1||HGNC|HGNC:28913|3||||||||Ensembl|||||1|17|chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||||||||||rs35101545|3249|-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl|||||1||chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||||||||||rs35101545|3235|-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl|||||1||chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||||||||||rs35101545|3249|-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl|||||1||chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||||||||||rs35101545|3242|-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl|||||1||chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||||||||||rs35101545|3235|-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq|||||||chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||||||||||rs35101545|3235|-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq|||||||chr22:g.28745072dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||3/4|NM_001318314.2:c.423+368dup|||||||rs35101545||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||||||17|chr22:g.28745072dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||3/4|NM_001318315.2:c.428+363dup|||||||rs35101545||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||||||17|chr22:g.28745072dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||3/5|NM_001318316.2:c.-46+363dup|||||||rs35101545||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||||||17|chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||||||||||rs35101545|3235|-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq|||||||chr22:g.28745072dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||3/3|NM_001363856.1:c.428+363dup|||||||rs35101545||1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||||||17|chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||||||||||rs35101545|3235|-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq|||||||chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||||||||||rs35101545|3221|-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||||OK|||chr22:g.28745072dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||3/5|NM_172002.5:c.423+368dup|||||||rs35101545||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||||||17|chr22:g.28745072dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||3/5|NR_134560.2:n.425+368dup|||||||rs35101545||1||EntrezGene|HGNC:28913|||||||||RefSeq||||||17|chr22:g.28745072dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||3/5|XM_005261359.5:c.387+368dup|||||||rs35101545||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||||||17|chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||||||||||rs35101545|3221|-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq|||||||chr22:g.28745072dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||3/5|XM_017028620.3:c.-46+368dup|||||||rs35101545||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||||||17|chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||||||||||rs35101545|3221|-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq|||||||chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||||||||||rs35101545|3221|-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq|||||||chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||||||||||rs35101545|3221|-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq|||||||chr22:g.28745072dup|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs35101545|3221|-1||EntrezGene|HGNC:16627|||||||||RefSeq|||||||chr22:g.28745072dup|||||||||||||;SpliceAI=CA|HSCB|0.00|0.00|0.00|0.00|-31|-24|-31|42;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216027,ENST00000348295,ENST00000382580,ENST00000398017,ENST00000398941,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000420442,ENST00000425190,ENST00000433028,ENST00000439200,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001349956.2,NM_001363856.1,NM_007194.4,NM_145862.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_011529845.3,XM_017028620.3,XM_047441104.1,XM_047441105.1,XM_047441106.1,XR_007067955.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,150274,150274,150274,11200,150274,11200,11200,150274,150274,150274,11200,150274,11200,11200,11200,11200;VEP_SYMBOL=HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,HSCB,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13473;gnomADv4_1_AC_joint_XX=7190;gnomADv4_1_AC_joint_XY=6283;gnomADv4_1_AF_grpmax_joint=0.255319;gnomADv4_1_AF_joint=0.133953;gnomADv4_1_AF_joint_XX=0.135953;gnomADv4_1_AF_joint_XY=0.131736;gnomADv4_1_AN_grpmax_joint=188;gnomADv4_1_AN_joint=100580;gnomADv4_1_AN_joint_XX=52886;gnomADv4_1_AN_joint_XY=47694;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=818;gnomADv4_1_nhomalt_joint_XX=441;gnomADv4_1_nhomalt_joint_XY=377;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28745253 chr22_28745253_C_T C T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.311;CADD_Rawscore=-0.313179;CSQ=T|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||3/5|ENST00000216027.8:c.423+549C>T|||||||rs5762767||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||||||||||rs5762767|3419|-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||||||||||rs5762767|3415|-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||||||||||rs5762767|3451|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||3/4|ENST00000398941.6:c.428+544C>T|||||||rs5762767||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||||||||||rs5762767|3433|-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||||||||||rs5762767|3453|-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||||||||||rs5762767|2831|-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||3/5|ENST00000420442.5:c.428+544C>T|||||||rs5762767||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||||||||||rs5762767|3442|-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs5762767|3447|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs5762767|3470|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||3/5|ENST00000450178.5:c.*50+549C>T|||||||rs5762767||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||3/5|ENST00000483861.5:n.237+549C>T|||||||rs5762767||1||HGNC|HGNC:28913|3||||||||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||3/3|ENST00000485599.5:n.369-3C>T|||||||rs5762767||1||HGNC|HGNC:28913|5||||||||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||3/5|ENST00000495977.1:n.220+544C>T|||||||rs5762767||1||HGNC|HGNC:28913|3||||||||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||||||||||rs5762767|3447|-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||||||||||rs5762767|3433|-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||||||||||rs5762767|3447|-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||||||||||rs5762767|3440|-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||C|C||1||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||||||||||rs5762767|3433|-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||C|C||||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||||||||||rs5762767|3433|-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||C|C||||chr22:g.28745253C>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||3/4|NM_001318314.2:c.423+549C>T|||||||rs5762767||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||C|C||||chr22:g.28745253C>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||3/4|NM_001318315.2:c.428+544C>T|||||||rs5762767||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||C|C||||chr22:g.28745253C>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||3/5|NM_001318316.2:c.-46+544C>T|||||||rs5762767||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||C|C||||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||||||||||rs5762767|3433|-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||C|C||||chr22:g.28745253C>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||3/3|NM_001363856.1:c.428+544C>T|||||||rs5762767||1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||C|C||||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||||||||||rs5762767|3433|-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||C|C||||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||||||||||rs5762767|3419|-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||C|C|OK|||chr22:g.28745253C>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||3/5|NM_172002.5:c.423+549C>T|||||||rs5762767||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||C|C||||chr22:g.28745253C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||3/5|NR_134560.2:n.425+549C>T|||||||rs5762767||1||EntrezGene|HGNC:28913|||||||||RefSeq||C|C||||chr22:g.28745253C>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||3/5|XM_005261359.5:c.387+549C>T|||||||rs5762767||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||C|C||||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||||||||||rs5762767|3419|-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||C|C||||chr22:g.28745253C>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||3/5|XM_017028620.3:c.-46+549C>T|||||||rs5762767||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||C|C||||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||||||||||rs5762767|3419|-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||C|C||||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||||||||||rs5762767|3419|-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||C|C||||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||||||||||rs5762767|3419|-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||C|C||||chr22:g.28745253C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs5762767|3419|-1||EntrezGene|HGNC:16627|||||||||RefSeq||C|C||||chr22:g.28745253C>T|||||||||||||;SpliceAI=T|HSCB|0.00|0.00|0.00|0.00|5|3|-39|3;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216027,ENST00000348295,ENST00000382580,ENST00000398017,ENST00000398941,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000420442,ENST00000425190,ENST00000433028,ENST00000439200,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001349956.2,NM_001363856.1,NM_007194.4,NM_145862.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_011529845.3,XM_017028620.3,XM_047441104.1,XM_047441105.1,XM_047441106.1,XR_007067955.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,150274,150274,150274,11200,150274,11200,11200,150274,150274,150274,11200,150274,11200,11200,11200,11200;VEP_SYMBOL=HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,HSCB,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16221;gnomADv4_1_AC_joint_XX=8217;gnomADv4_1_AC_joint_XY=8004;gnomADv4_1_AF_grpmax_joint=0.293259;gnomADv4_1_AF_joint=0.106482;gnomADv4_1_AF_joint_XX=0.105508;gnomADv4_1_AF_joint_XY=0.1075;gnomADv4_1_AN_grpmax_joint=4866;gnomADv4_1_AN_joint=152336;gnomADv4_1_AN_joint_XX=77880;gnomADv4_1_AN_joint_XY=74456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1171;gnomADv4_1_nhomalt_joint_XX=583;gnomADv4_1_nhomalt_joint_XY=588;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28746250 chr22_28746250_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.272;CADD_Rawscore=-0.347188;CSQ=A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||4/5|ENST00000216027.8:c.568+242G>A|||||||rs35829597||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||||||||||rs35829597|4416|-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||||||||||rs35829597|4412|-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||||||||||rs35829597|4448|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||3/4|ENST00000398941.6:c.428+1541G>A|||||||rs35829597||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||||||||||rs35829597|4430|-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||||||||||rs35829597|4450|-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||||||||||rs35829597|3828|-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||4/5|ENST00000420442.5:c.*141+242G>A|||||||rs35829597||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||||||||||rs35829597|4439|-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs35829597|4444|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs35829597|4467|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||4/5|ENST00000450178.5:c.*195+242G>A|||||||rs35829597||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||4/5|ENST00000483861.5:n.382+242G>A|||||||rs35829597||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs35829597|707|1||HGNC|HGNC:28913|5||||||||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||4/5|ENST00000495977.1:n.365+242G>A|||||||rs35829597||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||||||||||rs35829597|4444|-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||||||||||rs35829597|4430|-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||||||||||rs35829597|4444|-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||||||||||rs35829597|4437|-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||G|G||1||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||||||||||rs35829597|4430|-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||G|G||||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||||||||||rs35829597|4430|-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||G|G||||chr22:g.28746250G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||3/4|NM_001318314.2:c.423+1546G>A|||||||rs35829597||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||G|G||||chr22:g.28746250G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||3/4|NM_001318315.2:c.428+1541G>A|||||||rs35829597||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||G|G||||chr22:g.28746250G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||4/5|NM_001318316.2:c.100+242G>A|||||||rs35829597||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||G|G||||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||||||||||rs35829597|4430|-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||G|G||||chr22:g.28746250G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs35829597|201|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||G|G||||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||||||||||rs35829597|4430|-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||G|G||||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||||||||||rs35829597|4416|-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||G|G|OK|||chr22:g.28746250G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||4/5|NM_172002.5:c.568+242G>A|||||||rs35829597||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||G|G||||chr22:g.28746250G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||4/5|NR_134560.2:n.570+242G>A|||||||rs35829597||1||EntrezGene|HGNC:28913|||||||||RefSeq||G|G||||chr22:g.28746250G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||4/5|XM_005261359.5:c.532+242G>A|||||||rs35829597||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||G|G||||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||||||||||rs35829597|4416|-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||G|G||||chr22:g.28746250G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||4/5|XM_017028620.3:c.100+242G>A|||||||rs35829597||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||G|G||||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||||||||||rs35829597|4416|-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||G|G||||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||||||||||rs35829597|4416|-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||G|G||||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||||||||||rs35829597|4416|-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||G|G||||chr22:g.28746250G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs35829597|4416|-1||EntrezGene|HGNC:16627|||||||||RefSeq||G|G||||chr22:g.28746250G>A|||||||||||||;SpliceAI=A|HSCB|0.00|0.00|0.00|0.00|2|12|1|-20;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216027,ENST00000348295,ENST00000382580,ENST00000398017,ENST00000398941,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000420442,ENST00000425190,ENST00000433028,ENST00000439200,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001349956.2,NM_001363856.1,NM_007194.4,NM_145862.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_011529845.3,XM_017028620.3,XM_047441104.1,XM_047441105.1,XM_047441106.1,XR_007067955.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,150274,150274,150274,11200,150274,11200,11200,150274,150274,150274,11200,150274,11200,11200,11200,11200;VEP_SYMBOL=HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,HSCB,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16693;gnomADv4_1_AC_joint_XX=8472;gnomADv4_1_AC_joint_XY=8221;gnomADv4_1_AF_grpmax_joint=0.293003;gnomADv4_1_AF_joint=0.110092;gnomADv4_1_AF_joint_XX=0.109203;gnomADv4_1_AF_joint_XY=0.111023;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=151628;gnomADv4_1_AN_joint_XX=77580;gnomADv4_1_AN_joint_XY=74048;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1197;gnomADv4_1_nhomalt_joint_XX=602;gnomADv4_1_nhomalt_joint_XY=595;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28746380 chr22_28746380_CA_C CA C 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=3.319;CADDIndel_Rawscore=0.30425;CSQ=-|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||4/5|ENST00000216027.8:c.568+394del|||||||rs56751858||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||A|A||1|21|chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000348295|protein_coding||||||||||rs56751858|4547|-1||HGNC|HGNC:16627|5|CCDS13844.1|ENSP00000329012|O96017.248||UPI000006EA3C|O96017-12||Ensembl||A|A||1||chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000382580|protein_coding||||||||||rs56751858|4543|-1||HGNC|HGNC:16627|1|CCDS33629.1|ENSP00000372023|O96017.248||UPI000034E4A3|O96017-9||Ensembl||A|A||1||chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000398017|protein_coding||||||||||rs56751858|4579|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000381099||B7ZBF8.86|UPI000E6F18B7|||Ensembl||A|A||1||chr22:g.28746402del|||||||||||||,-|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||3/4|ENST00000398941.6:c.428+1693del|||||||rs56751858||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1|21|chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000404276|protein_coding||||||||||rs56751858|4561|-1||HGNC|HGNC:16627|1|CCDS13843.1|ENSP00000385747|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000405598|protein_coding||||||||||rs56751858|4581|-1||HGNC|HGNC:16627|5|CCDS13843.1|ENSP00000386087|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||||||||||rs56751858|3959|-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28746402del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||4/5|ENST00000420442.5:c.*141+394del|||||||rs56751858||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1|21|chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000425190|protein_coding||||||||||rs56751858|4570|-1||HGNC|HGNC:16627|5||ENSP00000390244|O96017.248|B7ZBF2.94|UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000433028|nonsense_mediated_decay||||||||||rs56751858|4575|-1||HGNC|HGNC:16627|5||ENSP00000403659||F8WCV2.62|UPI0000D4EA8E|||Ensembl||A|A||1||chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000439200|protein_coding||||||||||rs56751858|4598|-1|cds_end_NF|HGNC|HGNC:16627|5||ENSP00000408065||B7ZBF7.97|UPI000161103A|||Ensembl||A|A||1||chr22:g.28746402del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||4/5|ENST00000450178.5:c.*195+394del|||||||rs56751858||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||A|A||1|21|chr22:g.28746402del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||4/5|ENST00000483861.5:n.382+394del|||||||rs56751858||1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1|21|chr22:g.28746402del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs56751858|838|1||HGNC|HGNC:28913|5||||||||Ensembl||A|A||1||chr22:g.28746402del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||4/5|ENST00000495977.1:n.365+394del|||||||rs56751858||1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1|21|chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000649563|protein_coding||||||||||rs56751858|4575|-1||HGNC|HGNC:16627|||ENSP00000496928|O96017.248||UPI0000072B3E|O96017-13||Ensembl||A|A||1||chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650233|protein_coding||||||||||rs56751858|4561|-1|cds_end_NF|HGNC|HGNC:16627|||ENSP00000497699||A0A3B3ITA7.25|UPI000E6ED4AB|||Ensembl||A|A||1||chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000650281|protein_coding||||||||||rs56751858|4575|-1||HGNC|HGNC:16627||CCDS13843.1|ENSP00000497000|O96017.248||UPI00000316FF|O96017-1||Ensembl||A|A||1||chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000711048|nonsense_mediated_decay||||||||||rs56751858|4568|-1||HGNC|HGNC:16627|||ENSP00000518557||A0AA34QVK6.2||||Ensembl||A|A||1||chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001005735.2|protein_coding||||||||||rs56751858|4561|-1||EntrezGene|HGNC:16627|||NP_001005735.1||||||RefSeq||A|A||||chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001257387.2|protein_coding||||||||||rs56751858|4561|-1||EntrezGene|HGNC:16627|||NP_001244316.1||||||RefSeq||A|A||||chr22:g.28746402del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||3/4|NM_001318314.2:c.423+1698del|||||||rs56751858||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||A|A|||21|chr22:g.28746402del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||3/4|NM_001318315.2:c.428+1693del|||||||rs56751858||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||A|A|||21|chr22:g.28746402del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||4/5|NM_001318316.2:c.100+394del|||||||rs56751858||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||A|A|||21|chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_001349956.2|protein_coding||||||||||rs56751858|4561|-1||EntrezGene|HGNC:16627|||NP_001336885.1||||||RefSeq||A|A||||chr22:g.28746402del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs56751858|332|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||A|A||||chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_007194.4|protein_coding||||||||||rs56751858|4561|-1||EntrezGene|HGNC:16627|||NP_009125.1||||||RefSeq||A|A||||chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|NM_145862.2|protein_coding||||||||||rs56751858|4547|-1||EntrezGene|HGNC:16627|||NP_665861.1||||||RefSeq||A|A|OK|||chr22:g.28746402del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||4/5|NM_172002.5:c.568+394del|||||||rs56751858||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||A|A|||21|chr22:g.28746402del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||4/5|NR_134560.2:n.570+394del|||||||rs56751858||1||EntrezGene|HGNC:28913|||||||||RefSeq||A|A|||21|chr22:g.28746402del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||4/5|XM_005261359.5:c.532+394del|||||||rs56751858||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||A|A|||21|chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_011529845.3|protein_coding||||||||||rs56751858|4547|-1||EntrezGene|HGNC:16627|||XP_011528147.1||||||RefSeq||A|A||||chr22:g.28746402del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||4/5|XM_017028620.3:c.100+394del|||||||rs56751858||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||A|A|||21|chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441104.1|protein_coding||||||||||rs56751858|4547|-1||EntrezGene|HGNC:16627|||XP_047297060.1||||||RefSeq||A|A||||chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441105.1|protein_coding||||||||||rs56751858|4547|-1||EntrezGene|HGNC:16627|||XP_047297061.1||||||RefSeq||A|A||||chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XM_047441106.1|protein_coding||||||||||rs56751858|4547|-1||EntrezGene|HGNC:16627|||XP_047297062.1||||||RefSeq||A|A||||chr22:g.28746402del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|11200|Transcript|XR_007067955.1|misc_RNA||||||||||rs56751858|4547|-1||EntrezGene|HGNC:16627|||||||||RefSeq||A|A||||chr22:g.28746402del|||||||||||||;SpliceAI=C|HSCB|0.00|0.00|0.00|0.00|23|39|23|5;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216027,ENST00000348295,ENST00000382580,ENST00000398017,ENST00000398941,ENST00000404276,ENST00000405598,ENST00000416671,ENST00000420442,ENST00000425190,ENST00000433028,ENST00000439200,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,ENST00000649563,ENST00000650233,ENST00000650281,ENST00000711048,NM_001005735.2,NM_001257387.2,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001349956.2,NM_001363856.1,NM_007194.4,NM_145862.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_011529845.3,XM_017028620.3,XM_047441104.1,XM_047441105.1,XM_047441106.1,XR_007067955.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000183765,ENSG00000183765,ENSG00000183765,ENSG00000183765,11200,11200,150274,150274,150274,11200,150274,11200,11200,150274,150274,150274,11200,150274,11200,11200,11200,11200;VEP_SYMBOL=HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,HSCB,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,HSCB,CHEK2,CHEK2,HSCB,HSCB,HSCB,CHEK2,HSCB,CHEK2,CHEK2,CHEK2,CHEK2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35039;gnomADv4_1_AC_joint_XX=19038;gnomADv4_1_AC_joint_XY=16001;gnomADv4_1_AF_grpmax_joint=0.57;gnomADv4_1_AF_joint=0.490056;gnomADv4_1_AF_joint_XX=0.487304;gnomADv4_1_AF_joint_XY=0.493371;gnomADv4_1_AN_grpmax_joint=100;gnomADv4_1_AN_joint=71500;gnomADv4_1_AN_joint_XX=39068;gnomADv4_1_AN_joint_XY=32432;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3625;gnomADv4_1_nhomalt_joint_XX=1788;gnomADv4_1_nhomalt_joint_XY=1837;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28746898 chr22_28746898_CA_C CA C 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADDIndel_PHREDscore=0.743;CADDIndel_Rawscore=-0.093791;CSQ=-|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||4/5|ENST00000216027.8:c.568+906del|||||||rs71194793||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||A|A||1|15|chr22:g.28746914del|||||||||||||,-|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||3/4|ENST00000398941.6:c.428+2205del|||||||rs71194793||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1|15|chr22:g.28746914del|||||||||||||,-|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||||||||||rs71194793|4477|-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28746914del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||4/5|ENST00000420442.5:c.*141+906del|||||||rs71194793||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1|15|chr22:g.28746914del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||4/5|ENST00000450178.5:c.*195+906del|||||||rs71194793||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||A|A||1|15|chr22:g.28746914del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||4/5|ENST00000483861.5:n.382+906del|||||||rs71194793||1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1|15|chr22:g.28746914del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs71194793|1356|1||HGNC|HGNC:28913|5||||||||Ensembl||A|A||1||chr22:g.28746914del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||4/5|ENST00000495977.1:n.365+906del|||||||rs71194793||1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1|15|chr22:g.28746914del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||3/4|NM_001318314.2:c.423+2210del|||||||rs71194793||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||A|A|||15|chr22:g.28746914del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||3/4|NM_001318315.2:c.428+2205del|||||||rs71194793||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||A|A|||15|chr22:g.28746914del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||4/5|NM_001318316.2:c.100+906del|||||||rs71194793||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||A|A|||15|chr22:g.28746914del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs71194793|850|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||A|A||||chr22:g.28746914del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||4/5|NM_172002.5:c.568+906del|||||||rs71194793||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||A|A|||15|chr22:g.28746914del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||4/5|NR_134560.2:n.570+906del|||||||rs71194793||1||EntrezGene|HGNC:28913|||||||||RefSeq||A|A|||15|chr22:g.28746914del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||4/5|XM_005261359.5:c.532+906del|||||||rs71194793||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||A|A|||15|chr22:g.28746914del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||4/5|XM_017028620.3:c.100+906del|||||||rs71194793||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||A|A|||15|chr22:g.28746914del|||||||||||||;SpliceAI=C|HSCB|0.00|0.00|0.00|0.00|-27|-15|32|-15;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000416671,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001363856.1,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000183765,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,CHEK2,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59415;gnomADv4_1_AC_joint_XX=30410;gnomADv4_1_AC_joint_XY=29005;gnomADv4_1_AF_grpmax_joint=0.799734;gnomADv4_1_AF_joint=0.47716;gnomADv4_1_AF_joint_XX=0.471561;gnomADv4_1_AF_joint_XY=0.483175;gnomADv4_1_AN_grpmax_joint=4504;gnomADv4_1_AN_joint=124518;gnomADv4_1_AN_joint_XX=64488;gnomADv4_1_AN_joint_XY=60030;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12706;gnomADv4_1_nhomalt_joint_XX=6399;gnomADv4_1_nhomalt_joint_XY=6307;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28746989 chr22_28746989_A_G A G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.816;CADD_Rawscore=0.138344;CSQ=G|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||4/5|ENST00000216027.8:c.568+981A>G|||||||rs5762768||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||A|A||1||chr22:g.28746989A>G|||1||||||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||3/4|ENST00000398941.6:c.428+2280A>G|||||||rs5762768||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1||chr22:g.28746989A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||||||||||rs5762768|4567|-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||A|A||1||chr22:g.28746989A>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||4/5|ENST00000420442.5:c.*141+981A>G|||||||rs5762768||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1||chr22:g.28746989A>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||4/5|ENST00000450178.5:c.*195+981A>G|||||||rs5762768||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||A|A||1||chr22:g.28746989A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||4/5|ENST00000483861.5:n.382+981A>G|||||||rs5762768||1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1||chr22:g.28746989A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs5762768|1446|1||HGNC|HGNC:28913|5||||||||Ensembl||A|A||1||chr22:g.28746989A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||4/5|ENST00000495977.1:n.365+981A>G|||||||rs5762768||1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1||chr22:g.28746989A>G|||1||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||3/4|NM_001318314.2:c.423+2285A>G|||||||rs5762768||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||A|A||||chr22:g.28746989A>G|||1||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||3/4|NM_001318315.2:c.428+2280A>G|||||||rs5762768||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||A|A||||chr22:g.28746989A>G|||1||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||4/5|NM_001318316.2:c.100+981A>G|||||||rs5762768||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||A|A||||chr22:g.28746989A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs5762768|940|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||A|A||||chr22:g.28746989A>G|||1||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||4/5|NM_172002.5:c.568+981A>G|||||||rs5762768||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||A|A||||chr22:g.28746989A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||4/5|NR_134560.2:n.570+981A>G|||||||rs5762768||1||EntrezGene|HGNC:28913|||||||||RefSeq||A|A||||chr22:g.28746989A>G|||1||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||4/5|XM_005261359.5:c.532+981A>G|||||||rs5762768||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||A|A||||chr22:g.28746989A>G|||1||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||4/5|XM_017028620.3:c.100+981A>G|||||||rs5762768||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||A|A||||chr22:g.28746989A>G|||1||||||||||;SpliceAI=G|HSCB|0.00|0.00|0.00|0.00|-22|2|-22|10;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000416671,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001363856.1,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000183765,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,CHEK2,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81695;gnomADv4_1_AC_joint_XX=41418;gnomADv4_1_AC_joint_XY=40277;gnomADv4_1_AF_grpmax_joint=0.8;gnomADv4_1_AF_joint=0.538594;gnomADv4_1_AF_joint_XX=0.533696;gnomADv4_1_AF_joint_XY=0.543725;gnomADv4_1_AN_grpmax_joint=5130;gnomADv4_1_AN_joint=151682;gnomADv4_1_AN_joint_XX=77606;gnomADv4_1_AN_joint_XY=74076;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23062;gnomADv4_1_nhomalt_joint_XX=11596;gnomADv4_1_nhomalt_joint_XY=11466;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28747405 chr22_28747405_G_A G A 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.25;CADD_Rawscore=0.04021;CSQ=A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||4/5|ENST00000216027.8:c.568+1397G>A|||||||rs5762769||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||G|G||1||chr22:g.28747405G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||3/4|ENST00000398941.6:c.428+2696G>A|||||||rs5762769||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28747405G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CHEK2|ENSG00000183765|Transcript|ENST00000416671|nonsense_mediated_decay||||||||||rs5762769|4983|-1||HGNC|HGNC:16627|1||ENSP00000402225||C9JFD7.85|UPI0000D48AD4|||Ensembl||G|G||1||chr22:g.28747405G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||4/5|ENST00000420442.5:c.*141+1397G>A|||||||rs5762769||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28747405G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||4/5|ENST00000450178.5:c.*195+1397G>A|||||||rs5762769||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||G|G||1||chr22:g.28747405G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||4/5|ENST00000483861.5:n.382+1397G>A|||||||rs5762769||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28747405G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs5762769|1862|1||HGNC|HGNC:28913|5||||||||Ensembl||G|G||1||chr22:g.28747405G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||4/5|ENST00000495977.1:n.365+1397G>A|||||||rs5762769||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28747405G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||3/4|NM_001318314.2:c.423+2701G>A|||||||rs5762769||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||G|G||||chr22:g.28747405G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||3/4|NM_001318315.2:c.428+2696G>A|||||||rs5762769||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||G|G||||chr22:g.28747405G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||4/5|NM_001318316.2:c.100+1397G>A|||||||rs5762769||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||G|G||||chr22:g.28747405G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs5762769|1356|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||G|G||||chr22:g.28747405G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||4/5|NM_172002.5:c.568+1397G>A|||||||rs5762769||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||G|G||||chr22:g.28747405G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||4/5|NR_134560.2:n.570+1397G>A|||||||rs5762769||1||EntrezGene|HGNC:28913|||||||||RefSeq||G|G||||chr22:g.28747405G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||4/5|XM_005261359.5:c.532+1397G>A|||||||rs5762769||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||G|G||||chr22:g.28747405G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||4/5|XM_017028620.3:c.100+1397G>A|||||||rs5762769||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||G|G||||chr22:g.28747405G>A|||||||||||||;SpliceAI=A|HSCB|0.00|0.00|0.00|0.00|15|1|15|38;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000416671,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001363856.1,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000183765,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,CHEK2,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56930;gnomADv4_1_AC_joint_XX=28743;gnomADv4_1_AC_joint_XY=28187;gnomADv4_1_AF_grpmax_joint=0.626314;gnomADv4_1_AF_joint=0.37486;gnomADv4_1_AF_joint_XX=0.370171;gnomADv4_1_AF_joint_XY=0.379766;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=151870;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11192;gnomADv4_1_nhomalt_joint_XX=5565;gnomADv4_1_nhomalt_joint_XY=5627;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28747894 chr22_28747894_GTTCC_G GTTCC G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=2.553;CADDIndel_Rawscore=0.229375;CSQ=-|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||4/5|ENST00000216027.8:c.568+1888_568+1891del|||||||rs66464262||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||TTCC|TTCC||1|1|chr22:g.28747896_28747899del|||||||||||||,-|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||3/4|ENST00000398941.6:c.428+3187_428+3190del|||||||rs66464262||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||TTCC|TTCC||1|1|chr22:g.28747896_28747899del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||4/5|ENST00000420442.5:c.*141+1888_*141+1891del|||||||rs66464262||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||TTCC|TTCC||1|1|chr22:g.28747896_28747899del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||4/5|ENST00000450178.5:c.*195+1888_*195+1891del|||||||rs66464262||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||TTCC|TTCC||1|1|chr22:g.28747896_28747899del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||4/5|ENST00000483861.5:n.382+1888_382+1891del|||||||rs66464262||1||HGNC|HGNC:28913|3||||||||Ensembl||TTCC|TTCC||1|1|chr22:g.28747896_28747899del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs66464262|2352|1||HGNC|HGNC:28913|5||||||||Ensembl||TTCC|TTCC||1||chr22:g.28747896_28747899del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||4/5|ENST00000495977.1:n.365+1888_365+1891del|||||||rs66464262||1||HGNC|HGNC:28913|3||||||||Ensembl||TTCC|TTCC||1|1|chr22:g.28747896_28747899del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||3/4|NM_001318314.2:c.423+3192_423+3195del|||||||rs66464262||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||TTCC|TTCC|||1|chr22:g.28747896_28747899del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||3/4|NM_001318315.2:c.428+3187_428+3190del|||||||rs66464262||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||TTCC|TTCC|||1|chr22:g.28747896_28747899del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||4/5|NM_001318316.2:c.100+1888_100+1891del|||||||rs66464262||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||TTCC|TTCC|||1|chr22:g.28747896_28747899del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs66464262|1846|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||TTCC|TTCC||||chr22:g.28747896_28747899del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||4/5|NM_172002.5:c.568+1888_568+1891del|||||||rs66464262||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||TTCC|TTCC|||1|chr22:g.28747896_28747899del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||4/5|NR_134560.2:n.570+1888_570+1891del|||||||rs66464262||1||EntrezGene|HGNC:28913|||||||||RefSeq||TTCC|TTCC|||1|chr22:g.28747896_28747899del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||4/5|XM_005261359.5:c.532+1888_532+1891del|||||||rs66464262||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||TTCC|TTCC|||1|chr22:g.28747896_28747899del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||4/5|XM_017028620.3:c.100+1888_100+1891del|||||||rs66464262||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||TTCC|TTCC|||1|chr22:g.28747896_28747899del|||||||||||||;SpliceAI=G|HSCB|0.00|0.00|0.00|0.00|-37|11|-13|11;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001363856.1,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16515;gnomADv4_1_AC_joint_XX=8396;gnomADv4_1_AC_joint_XY=8119;gnomADv4_1_AF_grpmax_joint=0.293727;gnomADv4_1_AF_joint=0.108876;gnomADv4_1_AF_joint_XX=0.108263;gnomADv4_1_AF_joint_XY=0.109518;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=151686;gnomADv4_1_AN_joint_XX=77552;gnomADv4_1_AN_joint_XY=74134;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1163;gnomADv4_1_nhomalt_joint_XX=580;gnomADv4_1_nhomalt_joint_XY=583;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28748439 chr22_28748439_G_A G A 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.416;CADD_Rawscore=-0.239185;CSQ=A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||4/5|ENST00000216027.8:c.568+2431G>A|||||||rs73170631||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||G|G||1||chr22:g.28748439G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||3/4|ENST00000398941.6:c.429-2802G>A|||||||rs73170631||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28748439G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||4/5|ENST00000420442.5:c.*141+2431G>A|||||||rs73170631||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28748439G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||4/5|ENST00000450178.5:c.*195+2431G>A|||||||rs73170631||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||G|G||1||chr22:g.28748439G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||4/5|ENST00000483861.5:n.382+2431G>A|||||||rs73170631||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28748439G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs73170631|2896|1||HGNC|HGNC:28913|5||||||||Ensembl||G|G||1||chr22:g.28748439G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||4/5|ENST00000495977.1:n.365+2431G>A|||||||rs73170631||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28748439G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||3/4|NM_001318314.2:c.424-2802G>A|||||||rs73170631||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||G|G||||chr22:g.28748439G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||3/4|NM_001318315.2:c.429-2802G>A|||||||rs73170631||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||G|G||||chr22:g.28748439G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||4/5|NM_001318316.2:c.100+2431G>A|||||||rs73170631||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||G|G||||chr22:g.28748439G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs73170631|2390|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||G|G||||chr22:g.28748439G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||4/5|NM_172002.5:c.568+2431G>A|||||||rs73170631||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||G|G||||chr22:g.28748439G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||4/5|NR_134560.2:n.570+2431G>A|||||||rs73170631||1||EntrezGene|HGNC:28913|||||||||RefSeq||G|G||||chr22:g.28748439G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||4/5|XM_005261359.5:c.532+2431G>A|||||||rs73170631||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||G|G||||chr22:g.28748439G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||4/5|XM_017028620.3:c.100+2431G>A|||||||rs73170631||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||G|G||||chr22:g.28748439G>A|||||||||||||;SpliceAI=A|HSCB|0.00|0.00|0.00|0.00|10|-5|-13|-9;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001363856.1,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5995;gnomADv4_1_AC_joint_XX=3271;gnomADv4_1_AC_joint_XY=2724;gnomADv4_1_AF_grpmax_joint=0.0986395;gnomADv4_1_AF_joint=0.0394678;gnomADv4_1_AF_joint_XX=0.0420891;gnomADv4_1_AF_joint_XY=0.0367215;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151896;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74180;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=184;gnomADv4_1_nhomalt_joint_XX=104;gnomADv4_1_nhomalt_joint_XY=80;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28748512 chr22_28748512_G_T G T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.226;CADD_Rawscore=-0.395103;CSQ=T|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||4/5|ENST00000216027.8:c.568+2504G>T|||||||rs4822987||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||G|G||1||chr22:g.28748512G>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||3/4|ENST00000398941.6:c.429-2729G>T|||||||rs4822987||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28748512G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||4/5|ENST00000420442.5:c.*141+2504G>T|||||||rs4822987||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28748512G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||4/5|ENST00000450178.5:c.*195+2504G>T|||||||rs4822987||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||G|G||1||chr22:g.28748512G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||4/5|ENST00000483861.5:n.382+2504G>T|||||||rs4822987||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28748512G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs4822987|2969|1||HGNC|HGNC:28913|5||||||||Ensembl||G|G||1||chr22:g.28748512G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||4/5|ENST00000495977.1:n.365+2504G>T|||||||rs4822987||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28748512G>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||3/4|NM_001318314.2:c.424-2729G>T|||||||rs4822987||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||G|G||||chr22:g.28748512G>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||3/4|NM_001318315.2:c.429-2729G>T|||||||rs4822987||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||G|G||||chr22:g.28748512G>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||4/5|NM_001318316.2:c.100+2504G>T|||||||rs4822987||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||G|G||||chr22:g.28748512G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs4822987|2463|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||G|G||||chr22:g.28748512G>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||4/5|NM_172002.5:c.568+2504G>T|||||||rs4822987||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||G|G||||chr22:g.28748512G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||4/5|NR_134560.2:n.570+2504G>T|||||||rs4822987||1||EntrezGene|HGNC:28913|||||||||RefSeq||G|G||||chr22:g.28748512G>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||4/5|XM_005261359.5:c.532+2504G>T|||||||rs4822987||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||G|G||||chr22:g.28748512G>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||4/5|XM_017028620.3:c.100+2504G>T|||||||rs4822987||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||G|G||||chr22:g.28748512G>T|||||||||||||;SpliceAI=T|HSCB|0.00|0.00|0.00|0.00|26|46|3|26;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001363856.1,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50335;gnomADv4_1_AC_joint_XX=25265;gnomADv4_1_AC_joint_XY=25070;gnomADv4_1_AF_grpmax_joint=0.605815;gnomADv4_1_AF_joint=0.334759;gnomADv4_1_AF_joint_XX=0.328066;gnomADv4_1_AF_joint_XY=0.341786;gnomADv4_1_AN_grpmax_joint=5056;gnomADv4_1_AN_joint=150362;gnomADv4_1_AN_joint_XX=77012;gnomADv4_1_AN_joint_XY=73350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9268;gnomADv4_1_nhomalt_joint_XX=4543;gnomADv4_1_nhomalt_joint_XY=4725;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28748905 chr22_28748905_T_C T C 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.734;CADD_Rawscore=0.248239;CSQ=C|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||4/5|ENST00000216027.8:c.569-2336T>C|||||||rs2347446||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||T|T||1||chr22:g.28748905T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||3/4|ENST00000398941.6:c.429-2336T>C|||||||rs2347446||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||T|T||1||chr22:g.28748905T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||4/5|ENST00000420442.5:c.*142-2336T>C|||||||rs2347446||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||T|T||1||chr22:g.28748905T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||4/5|ENST00000450178.5:c.*196-2336T>C|||||||rs2347446||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||T|T||1||chr22:g.28748905T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||4/5|ENST00000483861.5:n.383-2336T>C|||||||rs2347446||1||HGNC|HGNC:28913|3||||||||Ensembl||T|T||1||chr22:g.28748905T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs2347446|3362|1||HGNC|HGNC:28913|5||||||||Ensembl||T|T||1||chr22:g.28748905T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||4/5|ENST00000495977.1:n.366-2336T>C|||||||rs2347446||1||HGNC|HGNC:28913|3||||||||Ensembl||T|T||1||chr22:g.28748905T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||3/4|NM_001318314.2:c.424-2336T>C|||||||rs2347446||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||T|T||||chr22:g.28748905T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||3/4|NM_001318315.2:c.429-2336T>C|||||||rs2347446||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||T|T||||chr22:g.28748905T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||4/5|NM_001318316.2:c.101-2336T>C|||||||rs2347446||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||T|T||||chr22:g.28748905T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs2347446|2856|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||T|T||||chr22:g.28748905T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||4/5|NM_172002.5:c.569-2336T>C|||||||rs2347446||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||T|T||||chr22:g.28748905T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||4/5|NR_134560.2:n.571-2336T>C|||||||rs2347446||1||EntrezGene|HGNC:28913|||||||||RefSeq||T|T||||chr22:g.28748905T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||4/5|XM_005261359.5:c.533-2336T>C|||||||rs2347446||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||T|T||||chr22:g.28748905T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||4/5|XM_017028620.3:c.101-2336T>C|||||||rs2347446||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||T|T||||chr22:g.28748905T>C|||||||||||||;SpliceAI=C|HSCB|0.02|0.00|0.00|0.00|-41|-27|44|-42;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001363856.1,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53889;gnomADv4_1_AC_joint_XX=27192;gnomADv4_1_AC_joint_XY=26697;gnomADv4_1_AF_grpmax_joint=0.626267;gnomADv4_1_AF_joint=0.354692;gnomADv4_1_AF_joint_XX=0.350115;gnomADv4_1_AF_joint_XY=0.359478;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=151932;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10056;gnomADv4_1_nhomalt_joint_XX=4972;gnomADv4_1_nhomalt_joint_XY=5084;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28749128 chr22_28749128_G_A G A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.209;CADD_Rawscore=-0.415046;CSQ=A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||4/5|ENST00000216027.8:c.569-2113G>A|||||||rs12484277||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||G|G||1||chr22:g.28749128G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||3/4|ENST00000398941.6:c.429-2113G>A|||||||rs12484277||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28749128G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||4/5|ENST00000420442.5:c.*142-2113G>A|||||||rs12484277||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28749128G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||4/5|ENST00000450178.5:c.*196-2113G>A|||||||rs12484277||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||G|G||1||chr22:g.28749128G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||4/5|ENST00000483861.5:n.383-2113G>A|||||||rs12484277||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28749128G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs12484277|3585|1||HGNC|HGNC:28913|5||||||||Ensembl||G|G||1||chr22:g.28749128G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||4/5|ENST00000495977.1:n.366-2113G>A|||||||rs12484277||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28749128G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||3/4|NM_001318314.2:c.424-2113G>A|||||||rs12484277||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||G|G||||chr22:g.28749128G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||3/4|NM_001318315.2:c.429-2113G>A|||||||rs12484277||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||G|G||||chr22:g.28749128G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||4/5|NM_001318316.2:c.101-2113G>A|||||||rs12484277||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||G|G||||chr22:g.28749128G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs12484277|3079|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||G|G||||chr22:g.28749128G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||4/5|NM_172002.5:c.569-2113G>A|||||||rs12484277||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||G|G||||chr22:g.28749128G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||4/5|NR_134560.2:n.571-2113G>A|||||||rs12484277||1||EntrezGene|HGNC:28913|||||||||RefSeq||G|G||||chr22:g.28749128G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||4/5|XM_005261359.5:c.533-2113G>A|||||||rs12484277||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||G|G||||chr22:g.28749128G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||4/5|XM_017028620.3:c.101-2113G>A|||||||rs12484277||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||G|G||||chr22:g.28749128G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FF4M|enhancer||||||||||rs12484277|||||||||||||||||||||chr22:g.28749128G>A|||||||||||||;SpliceAI=A|HSCB|0.00|0.00|0.00|0.00|2|-15|7|33;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001363856.1,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3,ENSR22_9FF4M;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274,150274,.;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15043;gnomADv4_1_AC_joint_XX=7489;gnomADv4_1_AC_joint_XY=7554;gnomADv4_1_AF_grpmax_joint=0.183231;gnomADv4_1_AF_joint=0.102756;gnomADv4_1_AF_joint_XX=0.0993974;gnomADv4_1_AF_joint_XY=0.106317;gnomADv4_1_AN_grpmax_joint=4568;gnomADv4_1_AN_joint=146396;gnomADv4_1_AN_joint_XX=75344;gnomADv4_1_AN_joint_XY=71052;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1023;gnomADv4_1_nhomalt_joint_XX=481;gnomADv4_1_nhomalt_joint_XY=542;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28749144 chr22_28749144_G_GA G GA 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.932;CADDIndel_Rawscore=-0.036008;CSQ=A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||4/5|ENST00000216027.8:c.569-2083dup|||||||rs5844822||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl|||||1|14|chr22:g.28749158dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||3/4|ENST00000398941.6:c.429-2083dup|||||||rs5844822||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl|||||1|14|chr22:g.28749158dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||4/5|ENST00000420442.5:c.*142-2083dup|||||||rs5844822||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl|||||1|14|chr22:g.28749158dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||4/5|ENST00000450178.5:c.*196-2083dup|||||||rs5844822||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl|||||1|14|chr22:g.28749158dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||4/5|ENST00000483861.5:n.383-2083dup|||||||rs5844822||1||HGNC|HGNC:28913|3||||||||Ensembl|||||1|14|chr22:g.28749158dup|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs5844822|3601|1||HGNC|HGNC:28913|5||||||||Ensembl|||||1||chr22:g.28749158dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||4/5|ENST00000495977.1:n.366-2083dup|||||||rs5844822||1||HGNC|HGNC:28913|3||||||||Ensembl|||||1|14|chr22:g.28749158dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||3/4|NM_001318314.2:c.424-2083dup|||||||rs5844822||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||||||14|chr22:g.28749158dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||3/4|NM_001318315.2:c.429-2083dup|||||||rs5844822||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||||||14|chr22:g.28749158dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||4/5|NM_001318316.2:c.101-2083dup|||||||rs5844822||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||||||14|chr22:g.28749158dup|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs5844822|3095|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq|||||||chr22:g.28749158dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||4/5|NM_172002.5:c.569-2083dup|||||||rs5844822||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||||||14|chr22:g.28749158dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||4/5|NR_134560.2:n.571-2083dup|||||||rs5844822||1||EntrezGene|HGNC:28913|||||||||RefSeq||||||14|chr22:g.28749158dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||4/5|XM_005261359.5:c.533-2083dup|||||||rs5844822||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||||||14|chr22:g.28749158dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||4/5|XM_017028620.3:c.101-2083dup|||||||rs5844822||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||||||14|chr22:g.28749158dup|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FF4M|enhancer||||||||||rs5844822|||||||||||||||||||||chr22:g.28749158dup|||||||||||||;SpliceAI=GA|HSCB|0.00|0.00|0.00|0.00|-31|-19|17|8;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001363856.1,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3,ENSR22_9FF4M;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274,150274,.;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77808;gnomADv4_1_AC_joint_XX=39787;gnomADv4_1_AC_joint_XY=38021;gnomADv4_1_AF_grpmax_joint=0.79165;gnomADv4_1_AF_joint=0.539472;gnomADv4_1_AF_joint_XX=0.534657;gnomADv4_1_AF_joint_XY=0.544604;gnomADv4_1_AN_grpmax_joint=4910;gnomADv4_1_AN_joint=144230;gnomADv4_1_AN_joint_XX=74416;gnomADv4_1_AN_joint_XY=69814;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21243;gnomADv4_1_nhomalt_joint_XX=10784;gnomADv4_1_nhomalt_joint_XY=10459;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28749423 chr22_28749423_T_C T C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=2.795;CADD_Rawscore=0.254451;CSQ=C|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||4/5|ENST00000216027.8:c.569-1818T>C|||||||rs714191||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||T|T||1||chr22:g.28749423T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||3/4|ENST00000398941.6:c.429-1818T>C|||||||rs714191||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||T|T||1||chr22:g.28749423T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||4/5|ENST00000420442.5:c.*142-1818T>C|||||||rs714191||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||T|T||1||chr22:g.28749423T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||4/5|ENST00000450178.5:c.*196-1818T>C|||||||rs714191||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||T|T||1||chr22:g.28749423T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||4/5|ENST00000483861.5:n.383-1818T>C|||||||rs714191||1||HGNC|HGNC:28913|3||||||||Ensembl||T|T||1||chr22:g.28749423T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs714191|3880|1||HGNC|HGNC:28913|5||||||||Ensembl||T|T||1||chr22:g.28749423T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||4/5|ENST00000495977.1:n.366-1818T>C|||||||rs714191||1||HGNC|HGNC:28913|3||||||||Ensembl||T|T||1||chr22:g.28749423T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||3/4|NM_001318314.2:c.424-1818T>C|||||||rs714191||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||T|T||||chr22:g.28749423T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||3/4|NM_001318315.2:c.429-1818T>C|||||||rs714191||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||T|T||||chr22:g.28749423T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||4/5|NM_001318316.2:c.101-1818T>C|||||||rs714191||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||T|T||||chr22:g.28749423T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs714191|3374|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||T|T||||chr22:g.28749423T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||4/5|NM_172002.5:c.569-1818T>C|||||||rs714191||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||T|T||||chr22:g.28749423T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||4/5|NR_134560.2:n.571-1818T>C|||||||rs714191||1||EntrezGene|HGNC:28913|||||||||RefSeq||T|T||||chr22:g.28749423T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||4/5|XM_005261359.5:c.533-1818T>C|||||||rs714191||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||T|T||||chr22:g.28749423T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||4/5|XM_017028620.3:c.101-1818T>C|||||||rs714191||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||T|T||||chr22:g.28749423T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FF4M|enhancer||||||||||rs714191|||||||||||||||||||||chr22:g.28749423T>C|||||||||||||;SpliceAI=C|HSCB|0.00|0.00|0.00|0.00|31|13|26|-36;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001363856.1,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3,ENSR22_9FF4M;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274,150274,.;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35882;gnomADv4_1_AC_joint_XX=17999;gnomADv4_1_AC_joint_XY=17883;gnomADv4_1_AF_grpmax_joint=0.433346;gnomADv4_1_AF_joint=0.235988;gnomADv4_1_AF_joint_XX=0.23157;gnomADv4_1_AF_joint_XY=0.240609;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4557;gnomADv4_1_nhomalt_joint_XX=2226;gnomADv4_1_nhomalt_joint_XY=2331;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28750247 chr22_28750247_CAAAAAAAAA_C CAAAAAAAAA C 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=41;CADDIndel_PHREDscore=0.775;CADDIndel_Rawscore=-0.083051;CSQ=-|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||4/5|ENST00000216027.8:c.569-973_569-965del|||||||rs563701958||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||AAAAAAAAA|AAAAAAAAA||1|20|chr22:g.28750268_28750276del|||||||||||||,-|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||3/4|ENST00000398941.6:c.429-973_429-965del|||||||rs563701958||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||AAAAAAAAA|AAAAAAAAA||1|20|chr22:g.28750268_28750276del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||4/5|ENST00000420442.5:c.*142-973_*142-965del|||||||rs563701958||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||AAAAAAAAA|AAAAAAAAA||1|20|chr22:g.28750268_28750276del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||4/5|ENST00000450178.5:c.*196-973_*196-965del|||||||rs563701958||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||AAAAAAAAA|AAAAAAAAA||1|20|chr22:g.28750268_28750276del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||4/5|ENST00000483861.5:n.383-973_383-965del|||||||rs563701958||1||HGNC|HGNC:28913|3||||||||Ensembl||AAAAAAAAA|AAAAAAAAA||1|20|chr22:g.28750268_28750276del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs563701958|4705|1||HGNC|HGNC:28913|5||||||||Ensembl||AAAAAAAAA|AAAAAAAAA||1||chr22:g.28750268_28750276del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||4/5|ENST00000495977.1:n.366-973_366-965del|||||||rs563701958||1||HGNC|HGNC:28913|3||||||||Ensembl||AAAAAAAAA|AAAAAAAAA||1|20|chr22:g.28750268_28750276del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||3/4|NM_001318314.2:c.424-973_424-965del|||||||rs563701958||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||AAAAAAAAA|AAAAAAAAA|||20|chr22:g.28750268_28750276del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||3/4|NM_001318315.2:c.429-973_429-965del|||||||rs563701958||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||AAAAAAAAA|AAAAAAAAA|||20|chr22:g.28750268_28750276del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||4/5|NM_001318316.2:c.101-973_101-965del|||||||rs563701958||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||AAAAAAAAA|AAAAAAAAA|||20|chr22:g.28750268_28750276del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs563701958|4199|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||AAAAAAAAA|AAAAAAAAA||||chr22:g.28750268_28750276del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||4/5|NM_172002.5:c.569-973_569-965del|||||||rs563701958||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||AAAAAAAAA|AAAAAAAAA|||20|chr22:g.28750268_28750276del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||4/5|NR_134560.2:n.571-973_571-965del|||||||rs563701958||1||EntrezGene|HGNC:28913|||||||||RefSeq||AAAAAAAAA|AAAAAAAAA|||20|chr22:g.28750268_28750276del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||4/5|XM_005261359.5:c.533-973_533-965del|||||||rs563701958||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||AAAAAAAAA|AAAAAAAAA|||20|chr22:g.28750268_28750276del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||4/5|XM_017028620.3:c.101-973_101-965del|||||||rs563701958||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||AAAAAAAAA|AAAAAAAAA|||20|chr22:g.28750268_28750276del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001363856.1,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30034;gnomADv4_1_AC_joint_XX=16316;gnomADv4_1_AC_joint_XY=13718;gnomADv4_1_AF_grpmax_joint=0.5861;gnomADv4_1_AF_joint=0.473573;gnomADv4_1_AF_joint_XX=0.472571;gnomADv4_1_AF_joint_XY=0.47477;gnomADv4_1_AN_grpmax_joint=2590;gnomADv4_1_AN_joint=63420;gnomADv4_1_AN_joint_XX=34526;gnomADv4_1_AN_joint_XY=28894;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3540;gnomADv4_1_nhomalt_joint_XX=1862;gnomADv4_1_nhomalt_joint_XY=1678;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28750515 chr22_28750515_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.081;CADD_Rawscore=-0.669741;CSQ=A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||4/5|ENST00000216027.8:c.569-726G>A|||||||rs5752785||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||G|G||1||chr22:g.28750515G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||3/4|ENST00000398941.6:c.429-726G>A|||||||rs5752785||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28750515G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||4/5|ENST00000420442.5:c.*142-726G>A|||||||rs5752785||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28750515G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||4/5|ENST00000450178.5:c.*196-726G>A|||||||rs5752785||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||G|G||1||chr22:g.28750515G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||4/5|ENST00000483861.5:n.383-726G>A|||||||rs5752785||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28750515G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000485599|protein_coding_CDS_not_defined||||||||||rs5752785|4972|1||HGNC|HGNC:28913|5||||||||Ensembl||G|G||1||chr22:g.28750515G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||4/5|ENST00000495977.1:n.366-726G>A|||||||rs5752785||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28750515G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||3/4|NM_001318314.2:c.424-726G>A|||||||rs5752785||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||G|G||||chr22:g.28750515G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||3/4|NM_001318315.2:c.429-726G>A|||||||rs5752785||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||G|G||||chr22:g.28750515G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||4/5|NM_001318316.2:c.101-726G>A|||||||rs5752785||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||G|G||||chr22:g.28750515G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001363856.1|protein_coding||||||||||rs5752785|4466|1||EntrezGene|HGNC:28913|||NP_001350785.1||||||RefSeq||G|G||||chr22:g.28750515G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||4/5|NM_172002.5:c.569-726G>A|||||||rs5752785||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||G|G||||chr22:g.28750515G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||4/5|NR_134560.2:n.571-726G>A|||||||rs5752785||1||EntrezGene|HGNC:28913|||||||||RefSeq||G|G||||chr22:g.28750515G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||4/5|XM_005261359.5:c.533-726G>A|||||||rs5752785||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||G|G||||chr22:g.28750515G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||4/5|XM_017028620.3:c.101-726G>A|||||||rs5752785||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||G|G||||chr22:g.28750515G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7P3J|enhancer||||||||||rs5752785|||||||||||||||||||||chr22:g.28750515G>A|||||||||||||;SpliceAI=A|HSCB|0.00|0.00|0.00|0.00|2|31|3|8;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000485599,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_001363856.1,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3,ENSR22_B7P3J;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274,150274,.;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32843;gnomADv4_1_AC_joint_XX=16375;gnomADv4_1_AC_joint_XY=16468;gnomADv4_1_AF_grpmax_joint=0.434211;gnomADv4_1_AF_joint=0.216067;gnomADv4_1_AF_joint_XX=0.21073;gnomADv4_1_AF_joint_XY=0.221648;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152004;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3853;gnomADv4_1_nhomalt_joint_XX=1859;gnomADv4_1_nhomalt_joint_XY=1994;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28751563 chr22_28751563_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.069;CADD_Rawscore=-0.000529;CSQ=T|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||5/5|ENST00000216027.8:c.616+275C>T|||||||rs6005859||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||C|C||1||chr22:g.28751563C>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||4/4|ENST00000398941.6:c.*44+275C>T|||||||rs6005859||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||C|C||1||chr22:g.28751563C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||5/5|ENST00000420442.5:c.*189+275C>T|||||||rs6005859||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||C|C||1||chr22:g.28751563C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||5/5|ENST00000450178.5:c.*243+275C>T|||||||rs6005859||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||C|C||1||chr22:g.28751563C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||5/5|ENST00000483861.5:n.430+275C>T|||||||rs6005859||1||HGNC|HGNC:28913|3||||||||Ensembl||C|C||1||chr22:g.28751563C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||5/5|ENST00000495977.1:n.413+275C>T|||||||rs6005859||1||HGNC|HGNC:28913|3||||||||Ensembl||C|C||1||chr22:g.28751563C>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||4/4|NM_001318314.2:c.*18+275C>T|||||||rs6005859||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||C|C||||chr22:g.28751563C>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||4/4|NM_001318315.2:c.*44+275C>T|||||||rs6005859||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||C|C||||chr22:g.28751563C>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||5/5|NM_001318316.2:c.148+275C>T|||||||rs6005859||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||C|C||||chr22:g.28751563C>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||5/5|NM_172002.5:c.616+275C>T|||||||rs6005859||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||C|C||||chr22:g.28751563C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||5/5|NR_134560.2:n.618+275C>T|||||||rs6005859||1||EntrezGene|HGNC:28913|||||||||RefSeq||C|C||||chr22:g.28751563C>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||5/5|XM_005261359.5:c.580+275C>T|||||||rs6005859||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||C|C||||chr22:g.28751563C>T|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||5/5|XM_017028620.3:c.148+275C>T|||||||rs6005859||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||C|C||||chr22:g.28751563C>T|||||||||||||;SpliceAI=T|HSCB|0.00|0.00|0.00|0.00|31|1|-2|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39726;gnomADv4_1_AC_joint_XX=20358;gnomADv4_1_AC_joint_XY=19368;gnomADv4_1_AF_grpmax_joint=0.341867;gnomADv4_1_AF_joint=0.26152;gnomADv4_1_AF_joint_XX=0.262055;gnomADv4_1_AF_joint_XY=0.260961;gnomADv4_1_AN_grpmax_joint=41446;gnomADv4_1_AN_joint=151904;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5474;gnomADv4_1_nhomalt_joint_XX=2802;gnomADv4_1_nhomalt_joint_XY=2672;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28752733 chr22_28752733_C_CA C CA 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=0.726;CADDIndel_Rawscore=-0.099573;CSQ=A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||5/5|ENST00000216027.8:c.616+1460dup|||||||rs374738245||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl|||||1|15|chr22:g.28752748dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||4/4|ENST00000398941.6:c.*44+1460dup|||||||rs374738245||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl|||||1|15|chr22:g.28752748dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||5/5|ENST00000420442.5:c.*189+1460dup|||||||rs374738245||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl|||||1|15|chr22:g.28752748dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||5/5|ENST00000450178.5:c.*243+1460dup|||||||rs374738245||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl|||||1|15|chr22:g.28752748dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||5/5|ENST00000483861.5:n.430+1460dup|||||||rs374738245||1||HGNC|HGNC:28913|3||||||||Ensembl|||||1|15|chr22:g.28752748dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||5/5|ENST00000495977.1:n.413+1460dup|||||||rs374738245||1||HGNC|HGNC:28913|3||||||||Ensembl|||||1|15|chr22:g.28752748dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||4/4|NM_001318314.2:c.*18+1460dup|||||||rs374738245||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||||||15|chr22:g.28752748dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||4/4|NM_001318315.2:c.*44+1460dup|||||||rs374738245||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||||||15|chr22:g.28752748dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||5/5|NM_001318316.2:c.148+1460dup|||||||rs374738245||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||||||15|chr22:g.28752748dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||5/5|NM_172002.5:c.616+1460dup|||||||rs374738245||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||||||15|chr22:g.28752748dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||5/5|NR_134560.2:n.618+1460dup|||||||rs374738245||1||EntrezGene|HGNC:28913|||||||||RefSeq||||||15|chr22:g.28752748dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||5/5|XM_005261359.5:c.580+1460dup|||||||rs374738245||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||||||15|chr22:g.28752748dup|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||5/5|XM_017028620.3:c.148+1460dup|||||||rs374738245||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||||||15|chr22:g.28752748dup|||||||||||||;SpliceAI=CA|HSCB|0.00|0.00|0.00|0.00|27|13|27|38;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32804;gnomADv4_1_AC_joint_XX=16695;gnomADv4_1_AC_joint_XY=16109;gnomADv4_1_AF_grpmax_joint=0.429235;gnomADv4_1_AF_joint=0.256033;gnomADv4_1_AF_joint_XX=0.249858;gnomADv4_1_AF_joint_XY=0.262764;gnomADv4_1_AN_grpmax_joint=4522;gnomADv4_1_AN_joint=128124;gnomADv4_1_AN_joint_XX=66818;gnomADv4_1_AN_joint_XY=61306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3950;gnomADv4_1_nhomalt_joint_XX=1967;gnomADv4_1_nhomalt_joint_XY=1983;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28753485 chr22_28753485_A_G A G 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.534;CADD_Rawscore=-0.176592;CSQ=G|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||5/5|ENST00000216027.8:c.616+2197A>G|||||||rs5752786||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||A|A||1||chr22:g.28753485A>G|||||||||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||4/4|ENST00000398941.6:c.*44+2197A>G|||||||rs5752786||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1||chr22:g.28753485A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||5/5|ENST00000420442.5:c.*189+2197A>G|||||||rs5752786||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1||chr22:g.28753485A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||5/5|ENST00000450178.5:c.*243+2197A>G|||||||rs5752786||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||A|A||1||chr22:g.28753485A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||5/5|ENST00000483861.5:n.430+2197A>G|||||||rs5752786||1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1||chr22:g.28753485A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||5/5|ENST00000495977.1:n.413+2197A>G|||||||rs5752786||1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1||chr22:g.28753485A>G|||||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||4/4|NM_001318314.2:c.*18+2197A>G|||||||rs5752786||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||A|A||||chr22:g.28753485A>G|||||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||4/4|NM_001318315.2:c.*44+2197A>G|||||||rs5752786||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||A|A||||chr22:g.28753485A>G|||||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||5/5|NM_001318316.2:c.148+2197A>G|||||||rs5752786||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||A|A||||chr22:g.28753485A>G|||||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||5/5|NM_172002.5:c.616+2197A>G|||||||rs5752786||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||A|A||||chr22:g.28753485A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||5/5|NR_134560.2:n.618+2197A>G|||||||rs5752786||1||EntrezGene|HGNC:28913|||||||||RefSeq||A|A||||chr22:g.28753485A>G|||||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||5/5|XM_005261359.5:c.580+2197A>G|||||||rs5752786||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||A|A||||chr22:g.28753485A>G|||||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||5/5|XM_017028620.3:c.148+2197A>G|||||||rs5752786||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||A|A||||chr22:g.28753485A>G|||||||||||||;SpliceAI=G|HSCB|0.00|0.00|0.00|0.00|15|10|19|-16;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77082;gnomADv4_1_AC_joint_XX=39015;gnomADv4_1_AC_joint_XY=38067;gnomADv4_1_AF_grpmax_joint=0.781621;gnomADv4_1_AF_joint=0.512159;gnomADv4_1_AF_joint_XX=0.506084;gnomADv4_1_AF_joint_XY=0.518539;gnomADv4_1_AN_grpmax_joint=5060;gnomADv4_1_AN_joint=150504;gnomADv4_1_AN_joint_XX=77092;gnomADv4_1_AN_joint_XY=73412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=20413;gnomADv4_1_nhomalt_joint_XX=10232;gnomADv4_1_nhomalt_joint_XY=10181;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28753637 chr22_28753637_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.32;CADD_Rawscore=-0.30544;CSQ=A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||5/5|ENST00000216027.8:c.616+2349G>A|||||||rs5752788||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||G|G||1||chr22:g.28753637G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||4/4|ENST00000398941.6:c.*44+2349G>A|||||||rs5752788||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28753637G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||5/5|ENST00000420442.5:c.*189+2349G>A|||||||rs5752788||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28753637G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||5/5|ENST00000450178.5:c.*243+2349G>A|||||||rs5752788||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||G|G||1||chr22:g.28753637G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||5/5|ENST00000483861.5:n.430+2349G>A|||||||rs5752788||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28753637G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||5/5|ENST00000495977.1:n.413+2349G>A|||||||rs5752788||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28753637G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||4/4|NM_001318314.2:c.*18+2349G>A|||||||rs5752788||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||G|G||||chr22:g.28753637G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||4/4|NM_001318315.2:c.*44+2349G>A|||||||rs5752788||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||G|G||||chr22:g.28753637G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||5/5|NM_001318316.2:c.148+2349G>A|||||||rs5752788||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||G|G||||chr22:g.28753637G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||5/5|NM_172002.5:c.616+2349G>A|||||||rs5752788||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||G|G||||chr22:g.28753637G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||5/5|NR_134560.2:n.618+2349G>A|||||||rs5752788||1||EntrezGene|HGNC:28913|||||||||RefSeq||G|G||||chr22:g.28753637G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||5/5|XM_005261359.5:c.580+2349G>A|||||||rs5752788||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||G|G||||chr22:g.28753637G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||5/5|XM_017028620.3:c.148+2349G>A|||||||rs5752788||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||G|G||||chr22:g.28753637G>A|||||||||||||;SpliceAI=A|HSCB|0.00|0.00|0.00|0.00|11|48|-14|18;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35001;gnomADv4_1_AC_joint_XX=17601;gnomADv4_1_AC_joint_XY=17400;gnomADv4_1_AF_grpmax_joint=0.408386;gnomADv4_1_AF_joint=0.231733;gnomADv4_1_AF_joint_XX=0.227715;gnomADv4_1_AF_joint_XY=0.235945;gnomADv4_1_AN_grpmax_joint=5032;gnomADv4_1_AN_joint=151040;gnomADv4_1_AN_joint_XX=77294;gnomADv4_1_AN_joint_XY=73746;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4348;gnomADv4_1_nhomalt_joint_XX=2131;gnomADv4_1_nhomalt_joint_XY=2217;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28753808 chr22_28753808_G_A G A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=2.247;CADD_Rawscore=0.194954;CSQ=A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||5/5|ENST00000216027.8:c.616+2520G>A|||||||rs5762774||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||G|G||1||chr22:g.28753808G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||4/4|ENST00000398941.6:c.*44+2520G>A|||||||rs5762774||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28753808G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||5/5|ENST00000420442.5:c.*189+2520G>A|||||||rs5762774||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28753808G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||5/5|ENST00000450178.5:c.*243+2520G>A|||||||rs5762774||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||G|G||1||chr22:g.28753808G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||5/5|ENST00000483861.5:n.430+2520G>A|||||||rs5762774||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28753808G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||5/5|ENST00000495977.1:n.413+2520G>A|||||||rs5762774||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28753808G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||4/4|NM_001318314.2:c.*18+2520G>A|||||||rs5762774||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||G|G||||chr22:g.28753808G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||4/4|NM_001318315.2:c.*44+2520G>A|||||||rs5762774||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||G|G||||chr22:g.28753808G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||5/5|NM_001318316.2:c.148+2520G>A|||||||rs5762774||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||G|G||||chr22:g.28753808G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||5/5|NM_172002.5:c.616+2520G>A|||||||rs5762774||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||G|G||||chr22:g.28753808G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||5/5|NR_134560.2:n.618+2520G>A|||||||rs5762774||1||EntrezGene|HGNC:28913|||||||||RefSeq||G|G||||chr22:g.28753808G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||5/5|XM_005261359.5:c.580+2520G>A|||||||rs5762774||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||G|G||||chr22:g.28753808G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||5/5|XM_017028620.3:c.148+2520G>A|||||||rs5762774||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||G|G||||chr22:g.28753808G>A|||||||||||||;SpliceAI=A|HSCB|0.00|0.00|0.00|0.00|2|16|2|-29;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17136;gnomADv4_1_AC_joint_XX=8732;gnomADv4_1_AC_joint_XY=8404;gnomADv4_1_AF_grpmax_joint=0.29862;gnomADv4_1_AF_joint=0.117243;gnomADv4_1_AF_joint_XX=0.116405;gnomADv4_1_AF_joint_XY=0.118127;gnomADv4_1_AN_grpmax_joint=4638;gnomADv4_1_AN_joint=146158;gnomADv4_1_AN_joint_XX=75014;gnomADv4_1_AN_joint_XY=71144;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1202;gnomADv4_1_nhomalt_joint_XX=602;gnomADv4_1_nhomalt_joint_XY=600;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28753899 chr22_28753899_G_C G C 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.279;CADD_Rawscore=-0.340941;CSQ=C|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||5/5|ENST00000216027.8:c.616+2611G>C|||||||rs5762776||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||G|G||1||chr22:g.28753899G>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||4/4|ENST00000398941.6:c.*44+2611G>C|||||||rs5762776||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28753899G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||5/5|ENST00000420442.5:c.*189+2611G>C|||||||rs5762776||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28753899G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||5/5|ENST00000450178.5:c.*243+2611G>C|||||||rs5762776||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||G|G||1||chr22:g.28753899G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||5/5|ENST00000483861.5:n.430+2611G>C|||||||rs5762776||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28753899G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||5/5|ENST00000495977.1:n.413+2611G>C|||||||rs5762776||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28753899G>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||4/4|NM_001318314.2:c.*18+2611G>C|||||||rs5762776||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||G|G||||chr22:g.28753899G>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||4/4|NM_001318315.2:c.*44+2611G>C|||||||rs5762776||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||G|G||||chr22:g.28753899G>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||5/5|NM_001318316.2:c.148+2611G>C|||||||rs5762776||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||G|G||||chr22:g.28753899G>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||5/5|NM_172002.5:c.616+2611G>C|||||||rs5762776||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||G|G||||chr22:g.28753899G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||5/5|NR_134560.2:n.618+2611G>C|||||||rs5762776||1||EntrezGene|HGNC:28913|||||||||RefSeq||G|G||||chr22:g.28753899G>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||5/5|XM_005261359.5:c.580+2611G>C|||||||rs5762776||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||G|G||||chr22:g.28753899G>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||5/5|XM_017028620.3:c.148+2611G>C|||||||rs5762776||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||G|G||||chr22:g.28753899G>C|||||||||||||;SpliceAI=C|HSCB|0.00|0.00|0.00|0.00|15|1|-2|14;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77797;gnomADv4_1_AC_joint_XX=39332;gnomADv4_1_AC_joint_XY=38465;gnomADv4_1_AF_grpmax_joint=0.782201;gnomADv4_1_AF_joint=0.512814;gnomADv4_1_AF_joint_XX=0.506908;gnomADv4_1_AF_joint_XY=0.518998;gnomADv4_1_AN_grpmax_joint=5124;gnomADv4_1_AN_joint=151706;gnomADv4_1_AN_joint_XX=77592;gnomADv4_1_AN_joint_XY=74114;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=20728;gnomADv4_1_nhomalt_joint_XX=10376;gnomADv4_1_nhomalt_joint_XY=10352;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28754056 chr22_28754056_T_C T C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.234;CADD_Rawscore=0.036837;CSQ=C|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||5/5|ENST00000216027.8:c.616+2768T>C|||||||rs5762777||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||T|T||1||chr22:g.28754056T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||4/4|ENST00000398941.6:c.*44+2768T>C|||||||rs5762777||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||T|T||1||chr22:g.28754056T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||5/5|ENST00000420442.5:c.*189+2768T>C|||||||rs5762777||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||T|T||1||chr22:g.28754056T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||5/5|ENST00000450178.5:c.*243+2768T>C|||||||rs5762777||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||T|T||1||chr22:g.28754056T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||5/5|ENST00000483861.5:n.430+2768T>C|||||||rs5762777||1||HGNC|HGNC:28913|3||||||||Ensembl||T|T||1||chr22:g.28754056T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||5/5|ENST00000495977.1:n.413+2768T>C|||||||rs5762777||1||HGNC|HGNC:28913|3||||||||Ensembl||T|T||1||chr22:g.28754056T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||4/4|NM_001318314.2:c.*18+2768T>C|||||||rs5762777||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||T|T||||chr22:g.28754056T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||4/4|NM_001318315.2:c.*44+2768T>C|||||||rs5762777||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||T|T||||chr22:g.28754056T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||5/5|NM_001318316.2:c.148+2768T>C|||||||rs5762777||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||T|T||||chr22:g.28754056T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||5/5|NM_172002.5:c.616+2768T>C|||||||rs5762777||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||T|T||||chr22:g.28754056T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||5/5|NR_134560.2:n.618+2768T>C|||||||rs5762777||1||EntrezGene|HGNC:28913|||||||||RefSeq||T|T||||chr22:g.28754056T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||5/5|XM_005261359.5:c.580+2768T>C|||||||rs5762777||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||T|T||||chr22:g.28754056T>C|||||||||||||,C|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||5/5|XM_017028620.3:c.148+2768T>C|||||||rs5762777||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||T|T||||chr22:g.28754056T>C|||||||||||||;SpliceAI=C|HSCB|0.00|0.00|0.00|0.00|-36|7|18|6;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=75807;gnomADv4_1_AC_joint_XX=38265;gnomADv4_1_AC_joint_XY=37542;gnomADv4_1_AF_grpmax_joint=0.783789;gnomADv4_1_AF_joint=0.500198;gnomADv4_1_AF_joint_XX=0.493513;gnomADv4_1_AF_joint_XY=0.507201;gnomADv4_1_AN_grpmax_joint=5120;gnomADv4_1_AN_joint=151554;gnomADv4_1_AN_joint_XX=77536;gnomADv4_1_AN_joint_XY=74018;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19636;gnomADv4_1_nhomalt_joint_XX=9778;gnomADv4_1_nhomalt_joint_XY=9858;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28754145 chr22_28754145_CA_C CA C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.287;CADDIndel_Rawscore=-0.33374;CSQ=-|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||5/5|ENST00000216027.8:c.616+2866del|||||||rs34428847||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||A|A||1|8|chr22:g.28754154del|||||||||||||,-|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||4/4|ENST00000398941.6:c.*44+2866del|||||||rs34428847||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1|8|chr22:g.28754154del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||5/5|ENST00000420442.5:c.*189+2866del|||||||rs34428847||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1|8|chr22:g.28754154del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||5/5|ENST00000450178.5:c.*243+2866del|||||||rs34428847||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||A|A||1|8|chr22:g.28754154del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||5/5|ENST00000483861.5:n.430+2866del|||||||rs34428847||1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1|8|chr22:g.28754154del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||5/5|ENST00000495977.1:n.413+2866del|||||||rs34428847||1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1|8|chr22:g.28754154del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||4/4|NM_001318314.2:c.*18+2866del|||||||rs34428847||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||A|A|||8|chr22:g.28754154del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||4/4|NM_001318315.2:c.*44+2866del|||||||rs34428847||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||A|A|||8|chr22:g.28754154del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||5/5|NM_001318316.2:c.148+2866del|||||||rs34428847||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||A|A|||8|chr22:g.28754154del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||5/5|NM_172002.5:c.616+2866del|||||||rs34428847||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||A|A|||8|chr22:g.28754154del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||5/5|NR_134560.2:n.618+2866del|||||||rs34428847||1||EntrezGene|HGNC:28913|||||||||RefSeq||A|A|||8|chr22:g.28754154del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||5/5|XM_005261359.5:c.580+2866del|||||||rs34428847||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||A|A|||8|chr22:g.28754154del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||5/5|XM_017028620.3:c.148+2866del|||||||rs34428847||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||A|A|||8|chr22:g.28754154del|||||||||||||;SpliceAI=C|HSCB|0.00|0.00|0.00|0.00|20|1|0|46;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60231;gnomADv4_1_AC_joint_XX=30503;gnomADv4_1_AC_joint_XY=29728;gnomADv4_1_AF_grpmax_joint=0.678088;gnomADv4_1_AF_joint=0.452558;gnomADv4_1_AF_joint_XX=0.447429;gnomADv4_1_AF_joint_XY=0.457946;gnomADv4_1_AN_grpmax_joint=4582;gnomADv4_1_AN_joint=133090;gnomADv4_1_AN_joint_XX=68174;gnomADv4_1_AN_joint_XY=64916;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12583;gnomADv4_1_nhomalt_joint_XX=6318;gnomADv4_1_nhomalt_joint_XY=6265;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28754799 chr22_28754799_AT_A AT A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=1.236;CADDIndel_Rawscore=0.037385;CSQ=-|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||5/5|ENST00000216027.8:c.617-2265del|||||||rs34393370||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||T|T||1|13|chr22:g.28754813del|||||||||||||,-|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||4/4|ENST00000398941.6:c.*45-2265del|||||||rs34393370||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||T|T||1|13|chr22:g.28754813del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||5/5|ENST00000420442.5:c.*190-2265del|||||||rs34393370||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||T|T||1|13|chr22:g.28754813del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||5/5|ENST00000450178.5:c.*244-2265del|||||||rs34393370||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||T|T||1|13|chr22:g.28754813del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||5/5|ENST00000483861.5:n.431-2265del|||||||rs34393370||1||HGNC|HGNC:28913|3||||||||Ensembl||T|T||1|13|chr22:g.28754813del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||5/5|ENST00000495977.1:n.414-2265del|||||||rs34393370||1||HGNC|HGNC:28913|3||||||||Ensembl||T|T||1|13|chr22:g.28754813del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||4/4|NM_001318314.2:c.*19-2265del|||||||rs34393370||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||T|T|||13|chr22:g.28754813del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||4/4|NM_001318315.2:c.*45-2265del|||||||rs34393370||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||T|T|||13|chr22:g.28754813del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||5/5|NM_001318316.2:c.149-2265del|||||||rs34393370||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||T|T|||13|chr22:g.28754813del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||5/5|NM_172002.5:c.617-2265del|||||||rs34393370||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||T|T|||13|chr22:g.28754813del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||5/5|NR_134560.2:n.619-2265del|||||||rs34393370||1||EntrezGene|HGNC:28913|||||||||RefSeq||T|T|||13|chr22:g.28754813del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||5/5|XM_005261359.5:c.581-2265del|||||||rs34393370||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||T|T|||13|chr22:g.28754813del|||||||||||||,-|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||5/5|XM_017028620.3:c.149-2265del|||||||rs34393370||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||T|T|||13|chr22:g.28754813del|||||||||||||;SpliceAI=A|HSCB|0.00|0.00|0.00|0.00|47|18|47|42;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71420;gnomADv4_1_AC_joint_XX=36345;gnomADv4_1_AC_joint_XY=35075;gnomADv4_1_AF_grpmax_joint=0.741314;gnomADv4_1_AF_joint=0.488763;gnomADv4_1_AF_joint_XX=0.483093;gnomADv4_1_AF_joint_XY=0.494781;gnomADv4_1_AN_grpmax_joint=4778;gnomADv4_1_AN_joint=146124;gnomADv4_1_AN_joint_XX=75234;gnomADv4_1_AN_joint_XY=70890;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17601;gnomADv4_1_nhomalt_joint_XX=8868;gnomADv4_1_nhomalt_joint_XY=8733;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28755030 chr22_28755030_A_G A G 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.656;CADD_Rawscore=-0.125231;CSQ=G|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||5/5|ENST00000216027.8:c.617-2048A>G|||||||rs78411830||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||A|A||1||chr22:g.28755030A>G|||||||||||||,G|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||4/4|ENST00000398941.6:c.*45-2048A>G|||||||rs78411830||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1||chr22:g.28755030A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||5/5|ENST00000420442.5:c.*190-2048A>G|||||||rs78411830||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1||chr22:g.28755030A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||5/5|ENST00000450178.5:c.*244-2048A>G|||||||rs78411830||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||A|A||1||chr22:g.28755030A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||5/5|ENST00000483861.5:n.431-2048A>G|||||||rs78411830||1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1||chr22:g.28755030A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||5/5|ENST00000495977.1:n.414-2048A>G|||||||rs78411830||1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1||chr22:g.28755030A>G|||||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||4/4|NM_001318314.2:c.*19-2048A>G|||||||rs78411830||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||A|A||||chr22:g.28755030A>G|||||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||4/4|NM_001318315.2:c.*45-2048A>G|||||||rs78411830||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||A|A||||chr22:g.28755030A>G|||||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||5/5|NM_001318316.2:c.149-2048A>G|||||||rs78411830||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||A|A||||chr22:g.28755030A>G|||||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||5/5|NM_172002.5:c.617-2048A>G|||||||rs78411830||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||A|A||||chr22:g.28755030A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||5/5|NR_134560.2:n.619-2048A>G|||||||rs78411830||1||EntrezGene|HGNC:28913|||||||||RefSeq||A|A||||chr22:g.28755030A>G|||||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||5/5|XM_005261359.5:c.581-2048A>G|||||||rs78411830||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||A|A||||chr22:g.28755030A>G|||||||||||||,G|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||5/5|XM_017028620.3:c.149-2048A>G|||||||rs78411830||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||A|A||||chr22:g.28755030A>G|||||||||||||;SpliceAI=G|HSCB|0.00|0.00|0.00|0.00|-49|42|43|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34679;gnomADv4_1_AC_joint_XX=17487;gnomADv4_1_AC_joint_XY=17192;gnomADv4_1_AF_grpmax_joint=0.406992;gnomADv4_1_AF_joint=0.23153;gnomADv4_1_AF_joint_XX=0.227962;gnomADv4_1_AF_joint_XY=0.235275;gnomADv4_1_AN_grpmax_joint=4720;gnomADv4_1_AN_joint=149782;gnomADv4_1_AN_joint_XX=76710;gnomADv4_1_AN_joint_XY=73072;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4303;gnomADv4_1_nhomalt_joint_XX=2120;gnomADv4_1_nhomalt_joint_XY=2183;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28755162 chr22_28755162_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=3.33;CADD_Rawscore=0.305319;CSQ=A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||5/5|ENST00000216027.8:c.617-1916G>A|||||||rs34887403||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||G|G||1||chr22:g.28755162G>A|||1||||||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||4/4|ENST00000398941.6:c.*45-1916G>A|||||||rs34887403||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28755162G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||5/5|ENST00000420442.5:c.*190-1916G>A|||||||rs34887403||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28755162G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||5/5|ENST00000450178.5:c.*244-1916G>A|||||||rs34887403||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||G|G||1||chr22:g.28755162G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||5/5|ENST00000483861.5:n.431-1916G>A|||||||rs34887403||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28755162G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||5/5|ENST00000495977.1:n.414-1916G>A|||||||rs34887403||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28755162G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs34887403|4950|1||||||||||||Ensembl||G|G||||chr22:g.28755162G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs34887403|4949|1||||||||||||Ensembl||G|G||||chr22:g.28755162G>A|||1||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||4/4|NM_001318314.2:c.*19-1916G>A|||||||rs34887403||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||G|G||||chr22:g.28755162G>A|||1||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||4/4|NM_001318315.2:c.*45-1916G>A|||||||rs34887403||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||G|G||||chr22:g.28755162G>A|||1||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||5/5|NM_001318316.2:c.149-1916G>A|||||||rs34887403||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||G|G||||chr22:g.28755162G>A|||1||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||5/5|NM_172002.5:c.617-1916G>A|||||||rs34887403||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||G|G||||chr22:g.28755162G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||5/5|NR_134560.2:n.619-1916G>A|||||||rs34887403||1||EntrezGene|HGNC:28913|||||||||RefSeq||G|G||||chr22:g.28755162G>A|||1||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||5/5|XM_005261359.5:c.581-1916G>A|||||||rs34887403||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||G|G||||chr22:g.28755162G>A|||1||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||5/5|XM_017028620.3:c.149-1916G>A|||||||rs34887403||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||G|G||||chr22:g.28755162G>A|||1||||||||||;SpliceAI=A|HSCB|0.00|0.00|0.00|0.00|-43|1|-10|33;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,ENST00000729538,ENST00000729539,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000295361,ENSG00000295361,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.,.,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16782;gnomADv4_1_AC_joint_XX=8552;gnomADv4_1_AC_joint_XY=8230;gnomADv4_1_AF_grpmax_joint=0.29774;gnomADv4_1_AF_joint=0.113108;gnomADv4_1_AF_joint_XX=0.112547;gnomADv4_1_AF_joint_XY=0.113696;gnomADv4_1_AN_grpmax_joint=4514;gnomADv4_1_AN_joint=148372;gnomADv4_1_AN_joint_XX=75986;gnomADv4_1_AN_joint_XY=72386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1164;gnomADv4_1_nhomalt_joint_XX=583;gnomADv4_1_nhomalt_joint_XY=581;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28755772 chr22_28755772_G_A G A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.516;CADD_Rawscore=0.225414;CSQ=A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||5/5|ENST00000216027.8:c.617-1306G>A|||||||rs5762780||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||G|G||1||chr22:g.28755772G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||4/4|ENST00000398941.6:c.*45-1306G>A|||||||rs5762780||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28755772G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||5/5|ENST00000420442.5:c.*190-1306G>A|||||||rs5762780||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28755772G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||5/5|ENST00000450178.5:c.*244-1306G>A|||||||rs5762780||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||G|G||1||chr22:g.28755772G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||5/5|ENST00000483861.5:n.431-1306G>A|||||||rs5762780||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28755772G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||5/5|ENST00000495977.1:n.414-1306G>A|||||||rs5762780||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28755772G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs5762780|4340|1||||||||||||Ensembl||G|G||||chr22:g.28755772G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs5762780|4339|1||||||||||||Ensembl||G|G||||chr22:g.28755772G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||4/4|NM_001318314.2:c.*19-1306G>A|||||||rs5762780||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||G|G||||chr22:g.28755772G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||4/4|NM_001318315.2:c.*45-1306G>A|||||||rs5762780||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||G|G||||chr22:g.28755772G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||5/5|NM_001318316.2:c.149-1306G>A|||||||rs5762780||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||G|G||||chr22:g.28755772G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||5/5|NM_172002.5:c.617-1306G>A|||||||rs5762780||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||G|G||||chr22:g.28755772G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||5/5|NR_134560.2:n.619-1306G>A|||||||rs5762780||1||EntrezGene|HGNC:28913|||||||||RefSeq||G|G||||chr22:g.28755772G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||5/5|XM_005261359.5:c.581-1306G>A|||||||rs5762780||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||G|G||||chr22:g.28755772G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||5/5|XM_017028620.3:c.149-1306G>A|||||||rs5762780||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||G|G||||chr22:g.28755772G>A|||||||||||||;SpliceAI=A|HSCB|0.01|0.00|0.00|0.00|2|-26|2|6;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,ENST00000729538,ENST00000729539,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000295361,ENSG00000295361,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.,.,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18724;gnomADv4_1_AC_joint_XX=9545;gnomADv4_1_AC_joint_XY=9179;gnomADv4_1_AF_grpmax_joint=0.292273;gnomADv4_1_AF_joint=0.123123;gnomADv4_1_AF_joint_XX=0.122784;gnomADv4_1_AF_joint_XY=0.123477;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1298;gnomADv4_1_nhomalt_joint_XX=650;gnomADv4_1_nhomalt_joint_XY=648;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28756467 chr22_28756467_C_CT C CT 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=36;CADDIndel_PHREDscore=0.318;CADDIndel_Rawscore=-0.307027;CSQ=T|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||5/5|ENST00000216027.8:c.617-595dup|||||||rs11392708||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl|||||1|16|chr22:g.28756483dup|||||||||||||,T|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||4/4|ENST00000398941.6:c.*45-595dup|||||||rs11392708||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl|||||1|16|chr22:g.28756483dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||5/5|ENST00000420442.5:c.*190-595dup|||||||rs11392708||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl|||||1|16|chr22:g.28756483dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||5/5|ENST00000450178.5:c.*244-595dup|||||||rs11392708||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl|||||1|16|chr22:g.28756483dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||5/5|ENST00000483861.5:n.431-595dup|||||||rs11392708||1||HGNC|HGNC:28913|3||||||||Ensembl|||||1|16|chr22:g.28756483dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||5/5|ENST00000495977.1:n.414-595dup|||||||rs11392708||1||HGNC|HGNC:28913|3||||||||Ensembl|||||1|16|chr22:g.28756483dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs11392708|3644|1||||||||||||Ensembl|||||||chr22:g.28756483dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs11392708|3643|1||||||||||||Ensembl|||||||chr22:g.28756483dup|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||4/4|NM_001318314.2:c.*19-595dup|||||||rs11392708||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||||||16|chr22:g.28756483dup|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||4/4|NM_001318315.2:c.*45-595dup|||||||rs11392708||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||||||16|chr22:g.28756483dup|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||5/5|NM_001318316.2:c.149-595dup|||||||rs11392708||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||||||16|chr22:g.28756483dup|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||5/5|NM_172002.5:c.617-595dup|||||||rs11392708||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||||||16|chr22:g.28756483dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||5/5|NR_134560.2:n.619-595dup|||||||rs11392708||1||EntrezGene|HGNC:28913|||||||||RefSeq||||||16|chr22:g.28756483dup|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||5/5|XM_005261359.5:c.581-595dup|||||||rs11392708||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||||||16|chr22:g.28756483dup|||||||||||||,T|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||5/5|XM_017028620.3:c.149-595dup|||||||rs11392708||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||||||16|chr22:g.28756483dup|||||||||||||;SpliceAI=CT|HSCB|0.00|0.00|0.00|0.00|21|-48|-36|21;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,ENST00000729538,ENST00000729539,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000295361,ENSG00000295361,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.,.,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39428;gnomADv4_1_AC_joint_XX=20676;gnomADv4_1_AC_joint_XY=18752;gnomADv4_1_AF_grpmax_joint=0.435872;gnomADv4_1_AF_joint=0.295496;gnomADv4_1_AF_joint_XX=0.2982;gnomADv4_1_AF_joint_XY=0.29257;gnomADv4_1_AN_grpmax_joint=4070;gnomADv4_1_AN_joint=133430;gnomADv4_1_AN_joint_XX=69336;gnomADv4_1_AN_joint_XY=64094;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6186;gnomADv4_1_nhomalt_joint_XX=3235;gnomADv4_1_nhomalt_joint_XY=2951;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28756977 chr22_28756977_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.882;CADD_Rawscore=0.14788;CSQ=A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||5/5|ENST00000216027.8:c.617-101G>A|||||||rs5752790||1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||G|G||1||chr22:g.28756977G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||4/4|ENST00000398941.6:c.*45-101G>A|||||||rs5752790||1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28756977G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||5/5|ENST00000420442.5:c.*190-101G>A|||||||rs5752790||1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28756977G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||5/5|ENST00000450178.5:c.*244-101G>A|||||||rs5752790||1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||G|G||1||chr22:g.28756977G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||5/5|ENST00000483861.5:n.431-101G>A|||||||rs5752790||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28756977G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||5/5|ENST00000495977.1:n.414-101G>A|||||||rs5752790||1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28756977G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs5752790|3135|1||||||||||||Ensembl||G|G||||chr22:g.28756977G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs5752790|3134|1||||||||||||Ensembl||G|G||||chr22:g.28756977G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||4/4|NM_001318314.2:c.*19-101G>A|||||||rs5752790||1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||G|G||||chr22:g.28756977G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||4/4|NM_001318315.2:c.*45-101G>A|||||||rs5752790||1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||G|G||||chr22:g.28756977G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||5/5|NM_001318316.2:c.149-101G>A|||||||rs5752790||1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||G|G||||chr22:g.28756977G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||5/5|NM_172002.5:c.617-101G>A|||||||rs5752790||1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||G|G||||chr22:g.28756977G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||5/5|NR_134560.2:n.619-101G>A|||||||rs5752790||1||EntrezGene|HGNC:28913|||||||||RefSeq||G|G||||chr22:g.28756977G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||5/5|XM_005261359.5:c.581-101G>A|||||||rs5752790||1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||G|G||||chr22:g.28756977G>A|||||||||||||,A|intron_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||5/5|XM_017028620.3:c.149-101G>A|||||||rs5752790||1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||G|G||||chr22:g.28756977G>A|||||||||||||;SpliceAI=A|HSCB|0.00|0.00|0.00|0.00|2|-27|6|43;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,ENST00000729538,ENST00000729539,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000295361,ENSG00000295361,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.,.,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=108386;gnomADv4_1_AC_joint_XX=47619;gnomADv4_1_AC_joint_XY=60767;gnomADv4_1_AF_grpmax_joint=0.280945;gnomADv4_1_AF_joint=0.146016;gnomADv4_1_AF_joint_XX=0.137701;gnomADv4_1_AF_joint_XY=0.153269;gnomADv4_1_AN_grpmax_joint=69672;gnomADv4_1_AN_joint=742288;gnomADv4_1_AN_joint_XX=345814;gnomADv4_1_AN_joint_XY=396474;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=9235;gnomADv4_1_nhomalt_joint_XX=3792;gnomADv4_1_nhomalt_joint_XY=5443;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28757559 chr22_28757559_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.984;CADD_Rawscore=0.363778;CSQ=T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs5752791|49|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||C|C||1||chr22:g.28757559C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||||||||||rs5752791|44|1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||C|C||1||chr22:g.28757559C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||||||||||rs5752791|346|1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||C|C||1||chr22:g.28757559C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs5752791|49|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||C|C||1||chr22:g.28757559C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||||||||||rs5752791|349|1||HGNC|HGNC:28913|3||||||||Ensembl||C|C||1||chr22:g.28757559C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||||||||||rs5752791|49|1||HGNC|HGNC:28913|3||||||||Ensembl||C|C||1||chr22:g.28757559C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs5752791|2553|1||||||||||||Ensembl||C|C||||chr22:g.28757559C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs5752791|2552|1||||||||||||Ensembl||C|C||||chr22:g.28757559C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs5752791|49|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||C|C||||chr22:g.28757559C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs5752791|49|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||C|C||||chr22:g.28757559C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||||||||||rs5752791|49|1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||C|C||||chr22:g.28757559C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs5752791|49|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||C|C||||chr22:g.28757559C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs5752791|49|1||EntrezGene|HGNC:28913|||||||||RefSeq||C|C||||chr22:g.28757559C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs5752791|49|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||C|C||||chr22:g.28757559C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||||||||||rs5752791|49|1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||C|C||||chr22:g.28757559C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,ENST00000729538,ENST00000729539,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000295361,ENSG00000295361,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.,.,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=92129;gnomADv4_1_AC_joint_XX=45889;gnomADv4_1_AC_joint_XY=46240;gnomADv4_1_AF_grpmax_joint=0.779799;gnomADv4_1_AF_joint=0.499176;gnomADv4_1_AF_joint_XX=0.490089;gnomADv4_1_AF_joint_XY=0.508534;gnomADv4_1_AN_grpmax_joint=5772;gnomADv4_1_AN_joint=184562;gnomADv4_1_AN_joint_XX=93634;gnomADv4_1_AN_joint_XY=90928;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23743;gnomADv4_1_nhomalt_joint_XX=11592;gnomADv4_1_nhomalt_joint_XY=12151;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28757771 chr22_28757771_C_T C T 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.329;CADD_Rawscore=0.204502;CSQ=T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs5752792|261|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||C|C||1||chr22:g.28757771C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||||||||||rs5752792|256|1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||C|C||1||chr22:g.28757771C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||||||||||rs5752792|558|1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||C|C||1||chr22:g.28757771C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs5752792|261|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||C|C||1||chr22:g.28757771C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||||||||||rs5752792|561|1||HGNC|HGNC:28913|3||||||||Ensembl||C|C||1||chr22:g.28757771C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||||||||||rs5752792|261|1||HGNC|HGNC:28913|3||||||||Ensembl||C|C||1||chr22:g.28757771C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs5752792|2341|1||||||||||||Ensembl||C|C||||chr22:g.28757771C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs5752792|2340|1||||||||||||Ensembl||C|C||||chr22:g.28757771C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs5752792|261|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||C|C||||chr22:g.28757771C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs5752792|261|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||C|C||||chr22:g.28757771C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||||||||||rs5752792|261|1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||C|C||||chr22:g.28757771C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs5752792|261|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||C|C||||chr22:g.28757771C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs5752792|261|1||EntrezGene|HGNC:28913|||||||||RefSeq||C|C||||chr22:g.28757771C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs5752792|261|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||C|C||||chr22:g.28757771C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||||||||||rs5752792|261|1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||C|C||||chr22:g.28757771C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,ENST00000729538,ENST00000729539,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000295361,ENSG00000295361,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.,.,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=133294;gnomADv4_1_AC_joint_XX=67748;gnomADv4_1_AC_joint_XY=65546;gnomADv4_1_AF_grpmax_joint=0.998453;gnomADv4_1_AF_joint=0.876242;gnomADv4_1_AF_joint_XX=0.871514;gnomADv4_1_AF_joint_XY=0.881184;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=58834;gnomADv4_1_nhomalt_joint_XX=29747;gnomADv4_1_nhomalt_joint_XY=29087;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28758467 chr22_28758467_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.027;CADD_Rawscore=-0.968525;CSQ=G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs5997397|957|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||A|A||1||chr22:g.28758467A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||||||||||rs5997397|952|1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1||chr22:g.28758467A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||||||||||rs5997397|1254|1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1||chr22:g.28758467A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs5997397|957|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||A|A||1||chr22:g.28758467A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||||||||||rs5997397|1257|1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1||chr22:g.28758467A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||||||||||rs5997397|957|1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1||chr22:g.28758467A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs5997397|1645|1||||||||||||Ensembl||A|A||||chr22:g.28758467A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs5997397|1644|1||||||||||||Ensembl||A|A||||chr22:g.28758467A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs5997397|957|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||A|A||||chr22:g.28758467A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs5997397|957|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||A|A||||chr22:g.28758467A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||||||||||rs5997397|957|1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||A|A||||chr22:g.28758467A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs5997397|957|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||A|A||||chr22:g.28758467A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs5997397|957|1||EntrezGene|HGNC:28913|||||||||RefSeq||A|A||||chr22:g.28758467A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs5997397|957|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||A|A||||chr22:g.28758467A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||||||||||rs5997397|957|1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||A|A||||chr22:g.28758467A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,ENST00000729538,ENST00000729539,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000295361,ENSG00000295361,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.,.,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80976;gnomADv4_1_AC_joint_XX=41063;gnomADv4_1_AC_joint_XY=39913;gnomADv4_1_AF_grpmax_joint=0.782752;gnomADv4_1_AF_joint=0.532821;gnomADv4_1_AF_joint_XX=0.5284;gnomADv4_1_AF_joint_XY=0.537447;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151976;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=22619;gnomADv4_1_nhomalt_joint_XX=11391;gnomADv4_1_nhomalt_joint_XY=11228;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28758615 chr22_28758615_A_G A G 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.516;CADD_Rawscore=-0.185366;CSQ=G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs6005862|1105|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||A|A||1||chr22:g.28758615A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||||||||||rs6005862|1100|1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1||chr22:g.28758615A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||||||||||rs6005862|1402|1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1||chr22:g.28758615A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs6005862|1105|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||A|A||1||chr22:g.28758615A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||||||||||rs6005862|1405|1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1||chr22:g.28758615A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||||||||||rs6005862|1105|1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1||chr22:g.28758615A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs6005862|1497|1||||||||||||Ensembl||A|A||||chr22:g.28758615A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs6005862|1496|1||||||||||||Ensembl||A|A||||chr22:g.28758615A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs6005862|1105|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||A|A||||chr22:g.28758615A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs6005862|1105|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||A|A||||chr22:g.28758615A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||||||||||rs6005862|1105|1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||A|A||||chr22:g.28758615A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs6005862|1105|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||A|A||||chr22:g.28758615A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs6005862|1105|1||EntrezGene|HGNC:28913|||||||||RefSeq||A|A||||chr22:g.28758615A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs6005862|1105|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||A|A||||chr22:g.28758615A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||||||||||rs6005862|1105|1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||A|A||||chr22:g.28758615A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,ENST00000729538,ENST00000729539,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000295361,ENSG00000295361,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.,.,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=75721;gnomADv4_1_AC_joint_XX=38254;gnomADv4_1_AC_joint_XY=37467;gnomADv4_1_AF_grpmax_joint=0.782362;gnomADv4_1_AF_joint=0.501397;gnomADv4_1_AF_joint_XX=0.495095;gnomADv4_1_AF_joint_XY=0.508;gnomADv4_1_AN_grpmax_joint=5114;gnomADv4_1_AN_joint=151020;gnomADv4_1_AN_joint_XX=77266;gnomADv4_1_AN_joint_XY=73754;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19629;gnomADv4_1_nhomalt_joint_XX=9789;gnomADv4_1_nhomalt_joint_XY=9840;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28758744 chr22_28758744_T_TA T TA 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=41;CADDIndel_PHREDscore=0.28;CADDIndel_Rawscore=-0.339564;CSQ=A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs34633563|1234|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl|||||1||chr22:g.28758762dup|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||||||||||rs34633563|1229|1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl|||||1||chr22:g.28758762dup|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||||||||||rs34633563|1531|1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl|||||1||chr22:g.28758762dup|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs34633563|1234|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl|||||1||chr22:g.28758762dup|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||||||||||rs34633563|1534|1||HGNC|HGNC:28913|3||||||||Ensembl|||||1||chr22:g.28758762dup|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||||||||||rs34633563|1234|1||HGNC|HGNC:28913|3||||||||Ensembl|||||1||chr22:g.28758762dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs34633563|1367|1||||||||||||Ensembl|||||||chr22:g.28758762dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs34633563|1366|1||||||||||||Ensembl|||||||chr22:g.28758762dup|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs34633563|1234|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq|||||||chr22:g.28758762dup|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs34633563|1234|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq|||||||chr22:g.28758762dup|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||||||||||rs34633563|1234|1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq|||||||chr22:g.28758762dup|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs34633563|1234|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq|||||||chr22:g.28758762dup|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs34633563|1234|1||EntrezGene|HGNC:28913|||||||||RefSeq|||||||chr22:g.28758762dup|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs34633563|1234|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq|||||||chr22:g.28758762dup|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||||||||||rs34633563|1234|1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq|||||||chr22:g.28758762dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,ENST00000729538,ENST00000729539,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000295361,ENSG00000295361,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.,.,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49776;gnomADv4_1_AC_joint_XX=25856;gnomADv4_1_AC_joint_XY=23920;gnomADv4_1_AF_grpmax_joint=0.586685;gnomADv4_1_AF_joint=0.382969;gnomADv4_1_AF_joint_XX=0.380448;gnomADv4_1_AF_joint_XY=0.385732;gnomADv4_1_AN_grpmax_joint=4476;gnomADv4_1_AN_joint=129974;gnomADv4_1_AN_joint_XX=67962;gnomADv4_1_AN_joint_XY=62012;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9449;gnomADv4_1_nhomalt_joint_XX=4876;gnomADv4_1_nhomalt_joint_XY=4573;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28759487 chr22_28759487_CTT_C;chr22_28759487_C_CT CTT C 20 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=20;CADDIndel_PHREDscore=0.155;CADDIndel_Rawscore=-0.494677;CSQ=-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs35400967|1978|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||TT|TT||1||chr22:g.28759509_28759510del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||||||||||rs35400967|1973|1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||TT|TT||1||chr22:g.28759509_28759510del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||||||||||rs35400967|2275|1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||TT|TT||1||chr22:g.28759509_28759510del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs35400967|1978|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||TT|TT||1||chr22:g.28759509_28759510del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||||||||||rs35400967|2278|1||HGNC|HGNC:28913|3||||||||Ensembl||TT|TT||1||chr22:g.28759509_28759510del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||||||||||rs35400967|1978|1||HGNC|HGNC:28913|3||||||||Ensembl||TT|TT||1||chr22:g.28759509_28759510del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs35400967|623|1||||||||||||Ensembl||TT|TT||||chr22:g.28759509_28759510del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs35400967|622|1||||||||||||Ensembl||TT|TT||||chr22:g.28759509_28759510del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs35400967|1978|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||TT|TT||||chr22:g.28759509_28759510del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs35400967|1978|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||TT|TT||||chr22:g.28759509_28759510del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||||||||||rs35400967|1978|1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||TT|TT||||chr22:g.28759509_28759510del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs35400967|1978|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||TT|TT||||chr22:g.28759509_28759510del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs35400967|1978|1||EntrezGene|HGNC:28913|||||||||RefSeq||TT|TT||||chr22:g.28759509_28759510del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs35400967|1978|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||TT|TT||||chr22:g.28759509_28759510del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||||||||||rs35400967|1978|1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||TT|TT||||chr22:g.28759509_28759510del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,ENST00000729538,ENST00000729539,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000295361,ENSG00000295361,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.,.,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16762;gnomADv4_1_AC_joint_XX=8980;gnomADv4_1_AC_joint_XY=7782;gnomADv4_1_AF_grpmax_joint=0.326778;gnomADv4_1_AF_joint=0.183782;gnomADv4_1_AF_joint_XX=0.180372;gnomADv4_1_AF_joint_XY=0.18788;gnomADv4_1_AN_grpmax_joint=2644;gnomADv4_1_AN_joint=91206;gnomADv4_1_AN_joint_XX=49786;gnomADv4_1_AN_joint_XY=41420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=454;gnomADv4_1_nhomalt_joint_XX=211;gnomADv4_1_nhomalt_joint_XY=243;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28759487 chr22_28759487_CTT_C;chr22_28759487_C_CT C CT 20 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=14;CADDIndel_PHREDscore=0.201;CADDIndel_Rawscore=-0.425185;CSQ=T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs35400967|1977|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl|||||1||chr22:g.28759510dup|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||||||||||rs35400967|1972|1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl|||||1||chr22:g.28759510dup|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||||||||||rs35400967|2274|1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl|||||1||chr22:g.28759510dup|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs35400967|1977|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl|||||1||chr22:g.28759510dup|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||||||||||rs35400967|2277|1||HGNC|HGNC:28913|3||||||||Ensembl|||||1||chr22:g.28759510dup|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||||||||||rs35400967|1977|1||HGNC|HGNC:28913|3||||||||Ensembl|||||1||chr22:g.28759510dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs35400967|624|1||||||||||||Ensembl|||||||chr22:g.28759510dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs35400967|623|1||||||||||||Ensembl|||||||chr22:g.28759510dup|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs35400967|1977|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq|||||||chr22:g.28759510dup|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs35400967|1977|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq|||||||chr22:g.28759510dup|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||||||||||rs35400967|1977|1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq|||||||chr22:g.28759510dup|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs35400967|1977|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq|||||||chr22:g.28759510dup|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs35400967|1977|1||EntrezGene|HGNC:28913|||||||||RefSeq|||||||chr22:g.28759510dup|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs35400967|1977|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq|||||||chr22:g.28759510dup|||||||||||||,T|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||||||||||rs35400967|1977|1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq|||||||chr22:g.28759510dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,ENST00000729538,ENST00000729539,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000295361,ENSG00000295361,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.,.,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10816;gnomADv4_1_AC_joint_XX=6110;gnomADv4_1_AC_joint_XY=4706;gnomADv4_1_AF_grpmax_joint=0.228704;gnomADv4_1_AF_joint=0.117438;gnomADv4_1_AF_joint_XX=0.121437;gnomADv4_1_AF_joint_XY=0.112621;gnomADv4_1_AN_grpmax_joint=2160;gnomADv4_1_AN_joint=92100;gnomADv4_1_AN_joint_XX=50314;gnomADv4_1_AN_joint_XY=41786;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=887;gnomADv4_1_nhomalt_joint_XX=481;gnomADv4_1_nhomalt_joint_XY=406;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28760460 chr22_28760460_A_G A G 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.474;CADD_Rawscore=-0.206503;CSQ=G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs6005863|2950|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||A|A||1||chr22:g.28760460A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||||||||||rs6005863|2945|1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1||chr22:g.28760460A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||||||||||rs6005863|3247|1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||A|A||1||chr22:g.28760460A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs6005863|2950|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||A|A||1||chr22:g.28760460A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||||||||||rs6005863|3250|1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1||chr22:g.28760460A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||||||||||rs6005863|2950|1||HGNC|HGNC:28913|3||||||||Ensembl||A|A||1||chr22:g.28760460A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||1/2|ENST00000729538.1:n.204+145A>G|||||||rs6005863||1||||||||||||Ensembl||A|A||||chr22:g.28760460A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||1/1|ENST00000729539.1:n.205+145A>G|||||||rs6005863||1||||||||||||Ensembl||A|A||||chr22:g.28760460A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs6005863|2950|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||A|A||||chr22:g.28760460A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs6005863|2950|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||A|A||||chr22:g.28760460A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||||||||||rs6005863|2950|1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||A|A||||chr22:g.28760460A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs6005863|2950|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||A|A||||chr22:g.28760460A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs6005863|2950|1||EntrezGene|HGNC:28913|||||||||RefSeq||A|A||||chr22:g.28760460A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs6005863|2950|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||A|A||||chr22:g.28760460A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||||||||||rs6005863|2950|1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||A|A||||chr22:g.28760460A>G|||1||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7P4X|enhancer||||||||||rs6005863|||||||||||||||||||||chr22:g.28760460A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,ENST00000729538,ENST00000729539,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3,ENSR22_B7P4X;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000295361,ENSG00000295361,150274,150274,150274,150274,150274,150274,150274,.;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.,.,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72250;gnomADv4_1_AC_joint_XX=36358;gnomADv4_1_AC_joint_XY=35892;gnomADv4_1_AF_grpmax_joint=0.783314;gnomADv4_1_AF_joint=0.475773;gnomADv4_1_AF_joint_XX=0.468217;gnomADv4_1_AF_joint_XY=0.483681;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=151858;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74206;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17918;gnomADv4_1_nhomalt_joint_XX=8857;gnomADv4_1_nhomalt_joint_XY=9061;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28761036 chr22_28761036_ATT_A;chr22_28761036_AT_A ATT A 32 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=32;CADDIndel_PHREDscore=0.629;CADDIndel_Rawscore=-0.135698;CSQ=-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs71194798|3527|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||TT|TT||1||chr22:g.28761055_28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||||||||||rs71194798|3522|1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||TT|TT||1||chr22:g.28761055_28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||||||||||rs71194798|3824|1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||TT|TT||1||chr22:g.28761055_28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs71194798|3527|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||TT|TT||1||chr22:g.28761055_28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||||||||||rs71194798|3827|1||HGNC|HGNC:28913|3||||||||Ensembl||TT|TT||1||chr22:g.28761055_28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||||||||||rs71194798|3527|1||HGNC|HGNC:28913|3||||||||Ensembl||TT|TT||1||chr22:g.28761055_28761056del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.306+260_306+261del|||||||rs71194798||1||||||||||||Ensembl||TT|TT|||18|chr22:g.28761055_28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs71194798|206|1||||||||||||Ensembl||TT|TT||||chr22:g.28761055_28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs71194798|3527|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||TT|TT||||chr22:g.28761055_28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs71194798|3527|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||TT|TT||||chr22:g.28761055_28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||||||||||rs71194798|3527|1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||TT|TT||||chr22:g.28761055_28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs71194798|3527|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||TT|TT||||chr22:g.28761055_28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs71194798|3527|1||EntrezGene|HGNC:28913|||||||||RefSeq||TT|TT||||chr22:g.28761055_28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs71194798|3527|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||TT|TT||||chr22:g.28761055_28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||||||||||rs71194798|3527|1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||TT|TT||||chr22:g.28761055_28761056del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,ENST00000729538,ENST00000729539,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000295361,ENSG00000295361,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.,.,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24143;gnomADv4_1_AC_joint_XX=12630;gnomADv4_1_AC_joint_XY=11513;gnomADv4_1_AF_grpmax_joint=0.378803;gnomADv4_1_AF_joint=0.20087;gnomADv4_1_AF_joint_XX=0.197702;gnomADv4_1_AF_joint_XY=0.204465;gnomADv4_1_AN_grpmax_joint=4142;gnomADv4_1_AN_joint=120192;gnomADv4_1_AN_joint_XX=63884;gnomADv4_1_AN_joint_XY=56308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1951;gnomADv4_1_nhomalt_joint_XX=968;gnomADv4_1_nhomalt_joint_XY=983;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28761036 chr22_28761036_ATT_A;chr22_28761036_AT_A AT A 32 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=21;CADDIndel_PHREDscore=0.194;CADDIndel_Rawscore=-0.43507;CSQ=-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs71194798|3527|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||T|T||1||chr22:g.28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||||||||||rs71194798|3522|1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||T|T||1||chr22:g.28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||||||||||rs71194798|3824|1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||T|T||1||chr22:g.28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs71194798|3527|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||T|T||1||chr22:g.28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||||||||||rs71194798|3827|1||HGNC|HGNC:28913|3||||||||Ensembl||T|T||1||chr22:g.28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||||||||||rs71194798|3527|1||HGNC|HGNC:28913|3||||||||Ensembl||T|T||1||chr22:g.28761056del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.306+261del|||||||rs71194798||1||||||||||||Ensembl||T|T|||19|chr22:g.28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs71194798|206|1||||||||||||Ensembl||T|T||||chr22:g.28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs71194798|3527|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||T|T||||chr22:g.28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs71194798|3527|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||T|T||||chr22:g.28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||||||||||rs71194798|3527|1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||T|T||||chr22:g.28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs71194798|3527|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||T|T||||chr22:g.28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs71194798|3527|1||EntrezGene|HGNC:28913|||||||||RefSeq||T|T||||chr22:g.28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs71194798|3527|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||T|T||||chr22:g.28761056del|||||||||||||,-|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||||||||||rs71194798|3527|1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||T|T||||chr22:g.28761056del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,ENST00000729538,ENST00000729539,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000295361,ENSG00000295361,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.,.,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32739;gnomADv4_1_AC_joint_XX=17445;gnomADv4_1_AC_joint_XY=15294;gnomADv4_1_AF_grpmax_joint=0.417261;gnomADv4_1_AF_joint=0.272539;gnomADv4_1_AF_joint_XX=0.273244;gnomADv4_1_AF_joint_XY=0.271739;gnomADv4_1_AN_grpmax_joint=30288;gnomADv4_1_AN_joint=120126;gnomADv4_1_AN_joint_XX=63844;gnomADv4_1_AN_joint_XY=56282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3826;gnomADv4_1_nhomalt_joint_XX=2021;gnomADv4_1_nhomalt_joint_XY=1805;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28761499 chr22_28761499_G_A G A 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.305;CADD_Rawscore=-0.318188;CSQ=A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000216027|protein_coding||||||||||rs6005864|3989|1||HGNC|HGNC:28913|1|CCDS13845.1|ENSP00000216027|Q8IWL3.168|A0A384NYJ4.27|UPI000013C6B6|||Ensembl||G|G||1||chr22:g.28761499G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000398941|protein_coding||||||||||rs6005864|3984|1||HGNC|HGNC:28913|2|CCDS82704.1|ENSP00000381914||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28761499G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000420442|nonsense_mediated_decay||||||||||rs6005864|4286|1||HGNC|HGNC:28913|5|CCDS87014.1|ENSP00000416679||B0QYH2.112|UPI0000EE5940|||Ensembl||G|G||1||chr22:g.28761499G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000450178|nonsense_mediated_decay||||||||||rs6005864|3989|1||HGNC|HGNC:28913|3||ENSP00000406284||F8WBY7.65|UPI000161103F|||Ensembl||G|G||1||chr22:g.28761499G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000483861|protein_coding_CDS_not_defined||||||||||rs6005864|4289|1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28761499G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|ENSG00000100209|Transcript|ENST00000495977|protein_coding_CDS_not_defined||||||||||rs6005864|3989|1||HGNC|HGNC:28913|3||||||||Ensembl||G|G||1||chr22:g.28761499G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.306+704G>A|||||||rs6005864||1||||||||||||Ensembl||G|G||||chr22:g.28761499G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs6005864|668|1||||||||||||Ensembl||G|G||||chr22:g.28761499G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318314.2|protein_coding||||||||||rs6005864|3989|1||EntrezGene|HGNC:28913|||NP_001305243.1||||||RefSeq||G|G||||chr22:g.28761499G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318315.2|protein_coding||||||||||rs6005864|3989|1||EntrezGene|HGNC:28913|||NP_001305244.1||||||RefSeq||G|G||||chr22:g.28761499G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_001318316.2|protein_coding||||||||||rs6005864|3989|1||EntrezGene|HGNC:28913|||NP_001305245.1||||||RefSeq||G|G||||chr22:g.28761499G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NM_172002.5|protein_coding||||||||||rs6005864|3989|1||EntrezGene|HGNC:28913|||NP_741999.3||||||RefSeq||G|G||||chr22:g.28761499G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|NR_134560.2|misc_RNA||||||||||rs6005864|3989|1||EntrezGene|HGNC:28913|||||||||RefSeq||G|G||||chr22:g.28761499G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_005261359.5|protein_coding||||||||||rs6005864|3989|1||EntrezGene|HGNC:28913|||XP_005261416.1||||||RefSeq||G|G||||chr22:g.28761499G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|HSCB|150274|Transcript|XM_017028620.3|protein_coding||||||||||rs6005864|3989|1||EntrezGene|HGNC:28913|||XP_016884109.1||||||RefSeq||G|G||||chr22:g.28761499G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216027,ENST00000398941,ENST00000420442,ENST00000450178,ENST00000483861,ENST00000495977,ENST00000729538,ENST00000729539,NM_001318314.2,NM_001318315.2,NM_001318316.2,NM_172002.5,NR_134560.2,XM_005261359.5,XM_017028620.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000100209,ENSG00000295361,ENSG00000295361,150274,150274,150274,150274,150274,150274,150274;VEP_SYMBOL=HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,.,.,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB,HSCB;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72682;gnomADv4_1_AC_joint_XX=36581;gnomADv4_1_AC_joint_XY=36101;gnomADv4_1_AF_grpmax_joint=0.782895;gnomADv4_1_AF_joint=0.478341;gnomADv4_1_AF_joint_XX=0.470943;gnomADv4_1_AF_joint_XY=0.486078;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=151946;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18110;gnomADv4_1_nhomalt_joint_XX=8960;gnomADv4_1_nhomalt_joint_XY=9150;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28763747 chr22_28763747_CT_C CT C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.188;CADDIndel_Rawscore=-0.442966;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.306+2969del|||||||rs67173913||1||||||||||||Ensembl||T|T|||16|chr22:g.28763764del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs67173913|2917|1||||||||||||Ensembl||T|T||||chr22:g.28763764del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000729538,ENST00000729539;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000295361,ENSG00000295361;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=51578;gnomADv4_1_AC_joint_XX=26305;gnomADv4_1_AC_joint_XY=25273;gnomADv4_1_AF_grpmax_joint=0.587667;gnomADv4_1_AF_joint=0.377966;gnomADv4_1_AF_joint_XX=0.372191;gnomADv4_1_AF_joint_XY=0.38417;gnomADv4_1_AN_grpmax_joint=4654;gnomADv4_1_AN_joint=136462;gnomADv4_1_AN_joint_XX=70676;gnomADv4_1_AN_joint_XY=65786;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9780;gnomADv4_1_nhomalt_joint_XX=4939;gnomADv4_1_nhomalt_joint_XY=4841;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28764326 chr22_28764326_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.796;CADD_Rawscore=0.254524;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.306+3531A>G|||||||rs5752793||1||||||||||||Ensembl||A|A||||chr22:g.28764326A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs5752793|3495|1||||||||||||Ensembl||A|A||||chr22:g.28764326A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000729538,ENST00000729539;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000295361,ENSG00000295361;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=53363;gnomADv4_1_AC_joint_XX=26841;gnomADv4_1_AC_joint_XY=26522;gnomADv4_1_AF_grpmax_joint=0.602873;gnomADv4_1_AF_joint=0.356876;gnomADv4_1_AF_joint_XX=0.351561;gnomADv4_1_AF_joint_XY=0.362421;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=149528;gnomADv4_1_AN_joint_XX=76348;gnomADv4_1_AN_joint_XY=73180;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10108;gnomADv4_1_nhomalt_joint_XX=4985;gnomADv4_1_nhomalt_joint_XY=5123;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28764817 chr22_28764817_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.014;CADD_Rawscore=0.275775;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.306+4022C>T|||||||rs73170633||1||||||||||||Ensembl||C|C||||chr22:g.28764817C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs73170633|3986|1||||||||||||Ensembl||C|C||||chr22:g.28764817C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000729538,ENST00000729539;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000295361,ENSG00000295361;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=16156;gnomADv4_1_AC_joint_XX=8163;gnomADv4_1_AC_joint_XY=7993;gnomADv4_1_AF_grpmax_joint=0.290383;gnomADv4_1_AF_joint=0.106199;gnomADv4_1_AF_joint_XX=0.104969;gnomADv4_1_AF_joint_XY=0.107485;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1132;gnomADv4_1_nhomalt_joint_XX=556;gnomADv4_1_nhomalt_joint_XY=576;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28765019 chr22_28765019_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.406;CADD_Rawscore=0.07105;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.306+4224C>T|||||||rs4820792||1||||||||||||Ensembl||C|C||||chr22:g.28765019C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs4820792|4188|1||||||||||||Ensembl||C|C||||chr22:g.28765019C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000729538,ENST00000729539;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000295361,ENSG00000295361;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=32645;gnomADv4_1_AC_joint_XX=16506;gnomADv4_1_AC_joint_XY=16139;gnomADv4_1_AF_grpmax_joint=0.397215;gnomADv4_1_AF_joint=0.215092;gnomADv4_1_AF_joint_XX=0.212679;gnomADv4_1_AF_joint_XY=0.217618;gnomADv4_1_AN_grpmax_joint=5098;gnomADv4_1_AN_joint=151772;gnomADv4_1_AN_joint_XX=77610;gnomADv4_1_AN_joint_XY=74162;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3809;gnomADv4_1_nhomalt_joint_XX=1904;gnomADv4_1_nhomalt_joint_XY=1905;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28765544 chr22_28765544_C_CT C CT 37 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=37;CADDIndel_PHREDscore=1.441;CADDIndel_Rawscore=0.077504;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.307-3843dup|||||||rs60148489||1||||||||||||Ensembl||||||22|chr22:g.28765566dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729539|lncRNA||||||||||rs60148489|4713|1||||||||||||Ensembl|||||||chr22:g.28765566dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T;VEP_Feature=ENST00000729538,ENST00000729539;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000295361,ENSG00000295361;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=16050;gnomADv4_1_AC_joint_XX=8909;gnomADv4_1_AC_joint_XY=7141;gnomADv4_1_AF_grpmax_joint=0.263524;gnomADv4_1_AF_joint=0.161843;gnomADv4_1_AF_joint_XX=0.167974;gnomADv4_1_AF_joint_XY=0.154795;gnomADv4_1_AN_grpmax_joint=2588;gnomADv4_1_AN_joint=99170;gnomADv4_1_AN_joint_XX=53038;gnomADv4_1_AN_joint_XY=46132;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2032;gnomADv4_1_nhomalt_joint_XX=1076;gnomADv4_1_nhomalt_joint_XY=956;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28766106 chr22_28766106_CA_C CA C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=0.577;CADDIndel_Rawscore=-0.157351;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.307-3302del|||||||rs59297679||1||||||||||||Ensembl||A|A||||chr22:g.28766107del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000729538;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295361;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15617;gnomADv4_1_AC_joint_XX=7881;gnomADv4_1_AC_joint_XY=7736;gnomADv4_1_AF_grpmax_joint=0.280939;gnomADv4_1_AF_joint=0.102564;gnomADv4_1_AF_joint_XX=0.10128;gnomADv4_1_AF_joint_XY=0.103906;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152266;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1089;gnomADv4_1_nhomalt_joint_XX=523;gnomADv4_1_nhomalt_joint_XY=566;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28766518 chr22_28766518_G_A G A 58 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.506;CADD_Rawscore=-0.190134;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.307-2891G>A|||||||rs9625566||1||||||||||||Ensembl||G|G||||chr22:g.28766518G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000729538;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000295361;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=65765;gnomADv4_1_AC_joint_XX=33490;gnomADv4_1_AC_joint_XY=32275;gnomADv4_1_AF_grpmax_joint=0.675938;gnomADv4_1_AF_joint=0.434488;gnomADv4_1_AF_joint_XX=0.432274;gnomADv4_1_AF_joint_XY=0.43681;gnomADv4_1_AN_grpmax_joint=41344;gnomADv4_1_AN_joint=151362;gnomADv4_1_AN_joint_XX=77474;gnomADv4_1_AN_joint_XY=73888;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=16496;gnomADv4_1_nhomalt_joint_XX=8401;gnomADv4_1_nhomalt_joint_XY=8095;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28768182 chr22_28768182_A_G A G 33 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=1.004;CADD_Rawscore=-0.016864;CSQ=G|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs112903640|4513|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||A|A||||chr22:g.28768182A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs112903640|4492|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||A|A||||chr22:g.28768182A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs112903640|4546|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||A|A||||chr22:g.28768182A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs112903640|4492|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||A|A||||chr22:g.28768182A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs112903640|4522|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||A|A||||chr22:g.28768182A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.307-1227A>G|||||||rs112903640||1||||||||||||Ensembl||A|A||||chr22:g.28768182A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs112903640|4513|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||A|A||||chr22:g.28768182A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs112903640|4513|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||A|A||||chr22:g.28768182A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs112903640|4955|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||A|A||||chr22:g.28768182A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs112903640|4513|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||A|A||||chr22:g.28768182A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49787;gnomADv4_1_AC_joint_XX=25987;gnomADv4_1_AC_joint_XY=23800;gnomADv4_1_AF_grpmax_joint=0.677733;gnomADv4_1_AF_joint=0.391008;gnomADv4_1_AF_joint_XX=0.387103;gnomADv4_1_AF_joint_XY=0.395362;gnomADv4_1_AN_grpmax_joint=4006;gnomADv4_1_AN_joint=127330;gnomADv4_1_AN_joint_XX=67132;gnomADv4_1_AN_joint_XY=60198;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10728;gnomADv4_1_nhomalt_joint_XX=5553;gnomADv4_1_nhomalt_joint_XY=5175;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28768259 chr22_28768259_AATATATAT_A AATATATAT A 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=27;CADDIndel_PHREDscore=0.539;CADDIndel_Rawscore=-0.174217;CSQ=-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs1213446584|4428|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||ATATATAT|ATATATAT||||chr22:g.28768284_28768291del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs1213446584|4407|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||ATATATAT|ATATATAT||||chr22:g.28768284_28768291del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs1213446584|4974|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||ATATATAT|ATATATAT||||chr22:g.28768284_28768291del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs1213446584|4461|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||ATATATAT|ATATATAT||||chr22:g.28768284_28768291del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs1213446584|4407|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||ATATATAT|ATATATAT||||chr22:g.28768284_28768291del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs1213446584|4437|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||ATATATAT|ATATATAT||||chr22:g.28768284_28768291del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.307-1125_307-1118del|||||||rs1213446584||1||||||||||||Ensembl||ATATATAT|ATATATAT|||24|chr22:g.28768284_28768291del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs1213446584|4428|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||ATATATAT|ATATATAT||||chr22:g.28768284_28768291del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs1213446584|4428|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||ATATATAT|ATATATAT||||chr22:g.28768284_28768291del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs1213446584|4870|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||ATATATAT|ATATATAT||||chr22:g.28768284_28768291del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs1213446584|4428|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||ATATATAT|ATATATAT||||chr22:g.28768284_28768291del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2541;gnomADv4_1_AC_joint_XX=1407;gnomADv4_1_AC_joint_XY=1134;gnomADv4_1_AF_grpmax_joint=0.133136;gnomADv4_1_AF_joint=0.072208;gnomADv4_1_AF_joint_XX=0.0695777;gnomADv4_1_AF_joint_XY=0.0757616;gnomADv4_1_AN_grpmax_joint=676;gnomADv4_1_AN_joint=35190;gnomADv4_1_AN_joint_XX=20222;gnomADv4_1_AN_joint_XY=14968;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=66;gnomADv4_1_nhomalt_joint_XX=38;gnomADv4_1_nhomalt_joint_XY=28;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28768633 chr22_28768633_T_TA T TA 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=0.581;CADDIndel_Rawscore=-0.155675;CSQ=A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs753304668|4061|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl|||||||chr22:g.28768633_28768634insA|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs753304668|4040|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl|||||||chr22:g.28768633_28768634insA|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs753304668|4607|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl|||||||chr22:g.28768633_28768634insA|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs753304668|4094|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl|||||||chr22:g.28768633_28768634insA|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs753304668|4040|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl|||||||chr22:g.28768633_28768634insA|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs753304668|4070|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl|||||||chr22:g.28768633_28768634insA|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.307-776_307-775insA|||||||rs753304668||1||||||||||||Ensembl|||||||chr22:g.28768633_28768634insA|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs753304668|4061|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq|||||||chr22:g.28768633_28768634insA|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs753304668|4061|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq|||||||chr22:g.28768633_28768634insA|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs753304668|4503|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq|||||||chr22:g.28768633_28768634insA|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs753304668|4061|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq|||||||chr22:g.28768633_28768634insA|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15493;gnomADv4_1_AC_joint_XX=7842;gnomADv4_1_AC_joint_XY=7651;gnomADv4_1_AF_grpmax_joint=0.439932;gnomADv4_1_AF_joint=0.18112;gnomADv4_1_AF_joint_XX=0.176494;gnomADv4_1_AF_joint_XY=0.186119;gnomADv4_1_AN_grpmax_joint=2364;gnomADv4_1_AN_joint=85540;gnomADv4_1_AN_joint_XX=44432;gnomADv4_1_AN_joint_XY=41108;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1078;gnomADv4_1_nhomalt_joint_XX=522;gnomADv4_1_nhomalt_joint_XY=556;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28768635 chr22_28768635_T_A T A 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.508;CADD_Rawscore=-0.189303;CSQ=A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs199568051|4060|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||T|T||||chr22:g.28768635T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs199568051|4039|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||T|T||||chr22:g.28768635T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs199568051|4606|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||T|T||||chr22:g.28768635T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs199568051|4093|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||T|T||||chr22:g.28768635T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs199568051|4039|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||T|T||||chr22:g.28768635T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs199568051|4069|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||T|T||||chr22:g.28768635T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.307-774T>A|||||||rs199568051||1||||||||||||Ensembl||T|T||||chr22:g.28768635T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs199568051|4060|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||T|T||||chr22:g.28768635T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs199568051|4060|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||T|T||||chr22:g.28768635T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs199568051|4502|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||T|T||||chr22:g.28768635T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs199568051|4060|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||T|T||||chr22:g.28768635T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25110;gnomADv4_1_AC_joint_XX=12572;gnomADv4_1_AC_joint_XY=12538;gnomADv4_1_AF_grpmax_joint=0.398234;gnomADv4_1_AF_joint=0.185357;gnomADv4_1_AF_joint_XX=0.181033;gnomADv4_1_AF_joint_XY=0.189906;gnomADv4_1_AN_grpmax_joint=4530;gnomADv4_1_AN_joint=135468;gnomADv4_1_AN_joint_XX=69446;gnomADv4_1_AN_joint_XY=66022;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2258;gnomADv4_1_nhomalt_joint_XX=1083;gnomADv4_1_nhomalt_joint_XY=1175;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28768637 chr22_28768637_T_A T A 35 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.384;CADD_Rawscore=0.066922;CSQ=A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs200761661|4058|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||T|T||||chr22:g.28768637T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs200761661|4037|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||T|T||||chr22:g.28768637T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs200761661|4604|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||T|T||||chr22:g.28768637T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs200761661|4091|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||T|T||||chr22:g.28768637T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs200761661|4037|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||T|T||||chr22:g.28768637T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs200761661|4067|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||T|T||||chr22:g.28768637T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.307-772T>A|||||||rs200761661||1||||||||||||Ensembl||T|T||||chr22:g.28768637T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs200761661|4058|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||T|T||||chr22:g.28768637T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs200761661|4058|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||T|T||||chr22:g.28768637T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs200761661|4500|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||T|T||||chr22:g.28768637T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs200761661|4058|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||T|T||||chr22:g.28768637T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20550;gnomADv4_1_AC_joint_XX=10148;gnomADv4_1_AC_joint_XY=10402;gnomADv4_1_AF_grpmax_joint=0.375366;gnomADv4_1_AF_joint=0.138925;gnomADv4_1_AF_joint_XX=0.133967;gnomADv4_1_AF_joint_XY=0.144128;gnomADv4_1_AN_grpmax_joint=4782;gnomADv4_1_AN_joint=147922;gnomADv4_1_AN_joint_XX=75750;gnomADv4_1_AN_joint_XY=72172;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1763;gnomADv4_1_nhomalt_joint_XX=828;gnomADv4_1_nhomalt_joint_XY=935;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28768639 chr22_28768639_T_A T A 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.046;CADD_Rawscore=-0.823701;CSQ=A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs201755353|4056|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||T|T||||chr22:g.28768639T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs201755353|4035|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||T|T||||chr22:g.28768639T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs201755353|4602|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||T|T||||chr22:g.28768639T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs201755353|4089|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||T|T||||chr22:g.28768639T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs201755353|4035|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||T|T||||chr22:g.28768639T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs201755353|4065|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||T|T||||chr22:g.28768639T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.307-770T>A|||||||rs201755353||1||||||||||||Ensembl||T|T||||chr22:g.28768639T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs201755353|4056|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||T|T||||chr22:g.28768639T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs201755353|4056|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||T|T||||chr22:g.28768639T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs201755353|4498|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||T|T||||chr22:g.28768639T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs201755353|4056|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||T|T||||chr22:g.28768639T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15321;gnomADv4_1_AC_joint_XX=7717;gnomADv4_1_AC_joint_XY=7604;gnomADv4_1_AF_grpmax_joint=0.281289;gnomADv4_1_AF_joint=0.102152;gnomADv4_1_AF_joint_XX=0.10055;gnomADv4_1_AF_joint_XY=0.103832;gnomADv4_1_AN_grpmax_joint=4778;gnomADv4_1_AN_joint=149982;gnomADv4_1_AN_joint_XX=76748;gnomADv4_1_AN_joint_XY=73234;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1057;gnomADv4_1_nhomalt_joint_XX=508;gnomADv4_1_nhomalt_joint_XY=549;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28768867 chr22_28768867_G_C G C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.043;CADD_Rawscore=-0.844327;CSQ=C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs34298044|3828|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||G|G||||chr22:g.28768867G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs34298044|3807|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||G|G||||chr22:g.28768867G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs34298044|4374|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||G|G||||chr22:g.28768867G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs34298044|3861|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||G|G||||chr22:g.28768867G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs34298044|3807|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||G|G||||chr22:g.28768867G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs34298044|3837|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||G|G||||chr22:g.28768867G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.307-542G>C|||||||rs34298044||1||||||||||||Ensembl||G|G||||chr22:g.28768867G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs34298044|3828|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||G|G||||chr22:g.28768867G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs34298044|3828|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||G|G||||chr22:g.28768867G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs34298044|4270|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||G|G||||chr22:g.28768867G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs34298044|3828|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||G|G||||chr22:g.28768867G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18141;gnomADv4_1_AC_joint_XX=9213;gnomADv4_1_AC_joint_XY=8928;gnomADv4_1_AF_grpmax_joint=0.280523;gnomADv4_1_AF_joint=0.119333;gnomADv4_1_AF_joint_XX=0.118568;gnomADv4_1_AF_joint_XY=0.120132;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1215;gnomADv4_1_nhomalt_joint_XX=595;gnomADv4_1_nhomalt_joint_XY=620;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28769132 chr22_28769132_T_C T C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.03;CADD_Rawscore=-0.01021;CSQ=C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs6005867|3563|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||T|T||||chr22:g.28769132T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs6005867|3542|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||T|T||||chr22:g.28769132T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs6005867|4109|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||T|T||||chr22:g.28769132T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs6005867|3596|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||T|T||||chr22:g.28769132T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs6005867|3542|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||T|T||||chr22:g.28769132T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs6005867|3572|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||T|T||||chr22:g.28769132T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||2/2|ENST00000729538.1:n.307-277T>C|||||||rs6005867||1||||||||||||Ensembl||T|T||||chr22:g.28769132T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs6005867|3563|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||T|T||||chr22:g.28769132T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs6005867|3563|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||T|T||||chr22:g.28769132T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs6005867|4005|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||T|T||||chr22:g.28769132T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs6005867|3563|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||T|T||||chr22:g.28769132T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58672;gnomADv4_1_AC_joint_XX=29685;gnomADv4_1_AC_joint_XY=28987;gnomADv4_1_AF_grpmax_joint=0.677225;gnomADv4_1_AF_joint=0.386071;gnomADv4_1_AF_joint_XX=0.382056;gnomADv4_1_AF_joint_XY=0.390271;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=151972;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12379;gnomADv4_1_nhomalt_joint_XX=6202;gnomADv4_1_nhomalt_joint_XY=6177;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28769537 chr22_28769537_T_G T G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.58;CADD_Rawscore=0.101759;CSQ=G|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs5762783|3158|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||T|T||||chr22:g.28769537T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs5762783|3137|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||T|T||||chr22:g.28769537T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs5762783|3704|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||T|T||||chr22:g.28769537T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs5762783|3191|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||T|T||||chr22:g.28769537T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs5762783|3137|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||T|T||||chr22:g.28769537T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs5762783|3167|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||T|T||||chr22:g.28769537T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA|3/3||ENST00000729538.1:n.435T>G||435|||||rs5762783||1||||||||||||Ensembl||T|T||||chr22:g.28769537T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs5762783|3158|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||T|T||||chr22:g.28769537T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs5762783|3158|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||T|T||||chr22:g.28769537T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs5762783|3600|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||T|T||||chr22:g.28769537T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs5762783|3158|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||T|T||||chr22:g.28769537T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90112;gnomADv4_1_AC_joint_XX=45799;gnomADv4_1_AC_joint_XY=44313;gnomADv4_1_AF_grpmax_joint=0.868049;gnomADv4_1_AF_joint=0.592983;gnomADv4_1_AF_joint_XX=0.58951;gnomADv4_1_AF_joint_XY=0.596615;gnomADv4_1_AN_grpmax_joint=41470;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=29516;gnomADv4_1_nhomalt_joint_XX=14992;gnomADv4_1_nhomalt_joint_XY=14524;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28770236 chr22_28770236_A_C A C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=7.118;CADD_Rawscore=0.670883;CSQ=C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs13056546|2459|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||A|A||||chr22:g.28770236A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs13056546|2438|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||A|A||||chr22:g.28770236A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs13056546|3005|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||A|A||||chr22:g.28770236A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs13056546|2492|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||A|A||||chr22:g.28770236A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs13056546|2438|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||A|A||||chr22:g.28770236A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs13056546|2468|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||A|A||||chr22:g.28770236A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs13056546|457|1||||||||||||Ensembl||A|A||||chr22:g.28770236A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs13056546|2459|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||A|A||||chr22:g.28770236A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs13056546|2459|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||A|A||||chr22:g.28770236A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs13056546|2901|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||A|A||||chr22:g.28770236A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs13056546|2459|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||A|A||||chr22:g.28770236A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19090;gnomADv4_1_AC_joint_XX=9723;gnomADv4_1_AC_joint_XY=9367;gnomADv4_1_AF_grpmax_joint=0.280705;gnomADv4_1_AF_joint=0.12547;gnomADv4_1_AF_joint_XX=0.125039;gnomADv4_1_AF_joint_XY=0.125921;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152148;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1308;gnomADv4_1_nhomalt_joint_XX=651;gnomADv4_1_nhomalt_joint_XY=657;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28770686 chr22_28770686_C_CTTT C CTTT 26 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=26;CADDIndel_PHREDscore=0.769;CADDIndel_Rawscore=-0.085167;CSQ=TTT|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs71316860|2008|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl|||||||chr22:g.28770699_28770701dup|||||||||||||,TTT|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs71316860|1987|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl|||||||chr22:g.28770699_28770701dup|||||||||||||,TTT|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs71316860|2554|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl|||||||chr22:g.28770699_28770701dup|||||||||||||,TTT|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs71316860|2041|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl|||||||chr22:g.28770699_28770701dup|||||||||||||,TTT|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs71316860|1987|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl|||||||chr22:g.28770699_28770701dup|||||||||||||,TTT|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs71316860|2017|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl|||||||chr22:g.28770699_28770701dup|||||||||||||,TTT|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs71316860|907|1||||||||||||Ensembl|||||||chr22:g.28770699_28770701dup|||||||||||||,TTT|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs71316860|2008|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq|||||||chr22:g.28770699_28770701dup|||||||||||||,TTT|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs71316860|2008|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq|||||||chr22:g.28770699_28770701dup|||||||||||||,TTT|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs71316860|2450|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq|||||||chr22:g.28770699_28770701dup|||||||||||||,TTT|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs71316860|2008|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq|||||||chr22:g.28770699_28770701dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14730;gnomADv4_1_AC_joint_XX=7908;gnomADv4_1_AC_joint_XY=6822;gnomADv4_1_AF_grpmax_joint=0.206349;gnomADv4_1_AF_joint=0.110919;gnomADv4_1_AF_joint_XX=0.114149;gnomADv4_1_AF_joint_XY=0.107396;gnomADv4_1_AN_grpmax_joint=252;gnomADv4_1_AN_joint=132800;gnomADv4_1_AN_joint_XX=69278;gnomADv4_1_AN_joint_XY=63522;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=968;gnomADv4_1_nhomalt_joint_XX=517;gnomADv4_1_nhomalt_joint_XY=451;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28770791 chr22_28770791_TCTC_T TCTC T 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.624;CADDIndel_Rawscore=-0.137934;CSQ=-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs59814891|1901|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||CTC|CTC||||chr22:g.28770794_28770796del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs59814891|1880|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||CTC|CTC||||chr22:g.28770794_28770796del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs59814891|2447|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||CTC|CTC||||chr22:g.28770794_28770796del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs59814891|1934|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||CTC|CTC||||chr22:g.28770794_28770796del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs59814891|1880|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||CTC|CTC||||chr22:g.28770794_28770796del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs59814891|1910|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||CTC|CTC||||chr22:g.28770794_28770796del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs59814891|1013|1||||||||||||Ensembl||CTC|CTC||||chr22:g.28770794_28770796del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs59814891|1901|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||CTC|CTC||||chr22:g.28770794_28770796del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs59814891|1901|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||CTC|CTC||||chr22:g.28770794_28770796del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs59814891|2343|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||CTC|CTC||||chr22:g.28770794_28770796del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs59814891|1901|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||CTC|CTC||||chr22:g.28770794_28770796del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18580;gnomADv4_1_AC_joint_XX=9528;gnomADv4_1_AC_joint_XY=9052;gnomADv4_1_AF_grpmax_joint=0.27576;gnomADv4_1_AF_joint=0.123203;gnomADv4_1_AF_joint_XX=0.123369;gnomADv4_1_AF_joint_XY=0.123029;gnomADv4_1_AN_grpmax_joint=4736;gnomADv4_1_AN_joint=150808;gnomADv4_1_AN_joint_XX=77232;gnomADv4_1_AN_joint_XY=73576;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1211;gnomADv4_1_nhomalt_joint_XX=608;gnomADv4_1_nhomalt_joint_XY=603;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28770842 chr22_28770842_C_G C G 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.069;CADD_Rawscore=-0.711832;CSQ=G|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs6005869|1853|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||C|C||||chr22:g.28770842C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs6005869|1832|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||C|C||||chr22:g.28770842C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs6005869|2399|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||C|C||||chr22:g.28770842C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs6005869|1886|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||C|C||||chr22:g.28770842C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs6005869|1832|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||C|C||||chr22:g.28770842C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs6005869|1862|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||C|C||||chr22:g.28770842C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs6005869|1063|1||||||||||||Ensembl||C|C||||chr22:g.28770842C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs6005869|1853|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||C|C||||chr22:g.28770842C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs6005869|1853|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||C|C||||chr22:g.28770842C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs6005869|2295|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||C|C||||chr22:g.28770842C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs6005869|1853|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||C|C||||chr22:g.28770842C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59555;gnomADv4_1_AC_joint_XX=30254;gnomADv4_1_AC_joint_XY=29301;gnomADv4_1_AF_grpmax_joint=0.680087;gnomADv4_1_AF_joint=0.403358;gnomADv4_1_AF_joint_XX=0.39953;gnomADv4_1_AF_joint_XY=0.407388;gnomADv4_1_AN_grpmax_joint=5042;gnomADv4_1_AN_joint=147648;gnomADv4_1_AN_joint_XX=75724;gnomADv4_1_AN_joint_XY=71924;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12972;gnomADv4_1_nhomalt_joint_XX=6544;gnomADv4_1_nhomalt_joint_XY=6428;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28771089 chr22_28771089_C_T C T 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.768;CADD_Rawscore=-0.085392;CSQ=T|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs5752794|1606|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||C|C||||chr22:g.28771089C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs5752794|1585|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||C|C||||chr22:g.28771089C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs5752794|2152|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||C|C||||chr22:g.28771089C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs5752794|1639|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||C|C||||chr22:g.28771089C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs5752794|1585|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||C|C||||chr22:g.28771089C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs5752794|1615|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||C|C||||chr22:g.28771089C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs5752794|1310|1||||||||||||Ensembl||C|C||||chr22:g.28771089C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs5752794|1606|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||C|C||||chr22:g.28771089C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs5752794|1606|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||C|C||||chr22:g.28771089C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs5752794|2048|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||C|C||||chr22:g.28771089C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs5752794|1606|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||C|C||||chr22:g.28771089C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17128;gnomADv4_1_AC_joint_XX=8675;gnomADv4_1_AC_joint_XY=8453;gnomADv4_1_AF_grpmax_joint=0.281029;gnomADv4_1_AF_joint=0.11268;gnomADv4_1_AF_joint_XX=0.111662;gnomADv4_1_AF_joint_XY=0.113744;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1157;gnomADv4_1_nhomalt_joint_XX=561;gnomADv4_1_nhomalt_joint_XY=596;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28771109 chr22_28771109_T_A T A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.888;CADD_Rawscore=0.148646;CSQ=A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs112147611|1586|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||T|T||||chr22:g.28771109T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs112147611|1565|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||T|T||||chr22:g.28771109T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs112147611|2132|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||T|T||||chr22:g.28771109T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs112147611|1619|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||T|T||||chr22:g.28771109T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs112147611|1565|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||T|T||||chr22:g.28771109T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs112147611|1595|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||T|T||||chr22:g.28771109T>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs112147611|1330|1||||||||||||Ensembl||T|T||||chr22:g.28771109T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs112147611|1586|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||T|T||||chr22:g.28771109T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs112147611|1586|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||T|T||||chr22:g.28771109T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs112147611|2028|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||T|T||||chr22:g.28771109T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs112147611|1586|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||T|T||||chr22:g.28771109T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6059;gnomADv4_1_AC_joint_XX=3283;gnomADv4_1_AC_joint_XY=2776;gnomADv4_1_AF_grpmax_joint=0.102041;gnomADv4_1_AF_joint=0.0398121;gnomADv4_1_AF_joint_XX=0.0422088;gnomADv4_1_AF_joint_XY=0.0373068;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152190;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=180;gnomADv4_1_nhomalt_joint_XX=100;gnomADv4_1_nhomalt_joint_XY=80;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28771548 chr22_28771548_CT_C;chr22_28771548_C_CT CT C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=45;CADDIndel_PHREDscore=0.064;CADDIndel_Rawscore=-0.732712;CSQ=-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs398036767|1146|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||T|T||||chr22:g.28771568del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs398036767|1125|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||T|T||||chr22:g.28771568del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs398036767|1692|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||T|T||||chr22:g.28771568del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs398036767|1179|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||T|T||||chr22:g.28771568del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs398036767|1125|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||T|T||||chr22:g.28771568del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs398036767|1155|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||T|T||||chr22:g.28771568del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs398036767|1770|1||||||||||||Ensembl||T|T||||chr22:g.28771568del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs398036767|1146|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||T|T||||chr22:g.28771568del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs398036767|1146|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||T|T||||chr22:g.28771568del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs398036767|1588|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||T|T||||chr22:g.28771568del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs398036767|1146|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||T|T||||chr22:g.28771568del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25617;gnomADv4_1_AC_joint_XX=13520;gnomADv4_1_AC_joint_XY=12097;gnomADv4_1_AF_grpmax_joint=0.366501;gnomADv4_1_AF_joint=0.212812;gnomADv4_1_AF_joint_XX=0.212212;gnomADv4_1_AF_joint_XY=0.213487;gnomADv4_1_AN_grpmax_joint=3618;gnomADv4_1_AN_joint=120374;gnomADv4_1_AN_joint_XX=63710;gnomADv4_1_AN_joint_XY=56664;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2410;gnomADv4_1_nhomalt_joint_XX=1267;gnomADv4_1_nhomalt_joint_XY=1143;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28771548 chr22_28771548_CT_C;chr22_28771548_C_CT C CT 45 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=14;CADDIndel_PHREDscore=0.314;CADDIndel_Rawscore=-0.31017;CSQ=T|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs398036767|1146|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl|||||||chr22:g.28771568dup|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs398036767|1125|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl|||||||chr22:g.28771568dup|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs398036767|1692|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl|||||||chr22:g.28771568dup|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs398036767|1179|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl|||||||chr22:g.28771568dup|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs398036767|1125|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl|||||||chr22:g.28771568dup|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs398036767|1155|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl|||||||chr22:g.28771568dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs398036767|1769|1||||||||||||Ensembl|||||||chr22:g.28771568dup|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs398036767|1146|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq|||||||chr22:g.28771568dup|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs398036767|1146|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq|||||||chr22:g.28771568dup|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs398036767|1588|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq|||||||chr22:g.28771568dup|||||||||||||,T|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs398036767|1146|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq|||||||chr22:g.28771568dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14803;gnomADv4_1_AC_joint_XX=7884;gnomADv4_1_AC_joint_XY=6919;gnomADv4_1_AF_grpmax_joint=0.226415;gnomADv4_1_AF_joint=0.122887;gnomADv4_1_AF_joint_XX=0.123597;gnomADv4_1_AF_joint_XY=0.122089;gnomADv4_1_AN_grpmax_joint=212;gnomADv4_1_AN_joint=120460;gnomADv4_1_AN_joint_XX=63788;gnomADv4_1_AN_joint_XY=56672;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1206;gnomADv4_1_nhomalt_joint_XX=624;gnomADv4_1_nhomalt_joint_XY=582;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28772767 chr22_28772767_T_C T C 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=3.627;CADD_Rawscore=0.332088;CSQ=C|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding|1/5||ENST00000249064.9:c.-83T>C||73|||||rs11556025||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||T|T||||chr22:g.28772767T>C|||||||||0|0|0||,C|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding|1/4||ENST00000421503.6:c.-83T>C||94|||||rs11556025||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||T|T||||chr22:g.28772767T>C|||||||||0|1|0||,C|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs11556025|474|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||T|T||||chr22:g.28772767T>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding|1/2||ENST00000444523.1:c.-83T>C||40|||||rs11556025||1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||T|T||||chr22:g.28772767T>C|||||||||0|0|0||,C|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding|1/4||ENST00000448492.6:c.-83T>C||94|||||rs11556025||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||T|T||||chr22:g.28772767T>C|||||||||0|1|0||,C|5_prime_UTR_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay|1/5||ENST00000453543.5:c.-83T>C||64|||||rs11556025||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||T|T||||chr22:g.28772767T>C|||||||||0|0|0||,C|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs11556025|2988|1||||||||||||Ensembl||T|T||||chr22:g.28772767T>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding|1/4||NM_001284263.2:c.-83T>C||73|||||rs11556025||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||T|T||||chr22:g.28772767T>C|||||||||0|0|0||,C|5_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding|1/4||NM_001284264.2:c.-83T>C||73|||||rs11556025||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||T|T||||chr22:g.28772767T>C|||||||||0|0|0||,C|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs11556025|370|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||T|T||||chr22:g.28772767T>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding|1/5||NM_173510.4:c.-83T>C||73|||||rs11556025||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||T|T||||chr22:g.28772767T>C|||||||||0|0|0||;SpliceAI=C|CCDC117|0.00|0.00|0.00|0.00|33|-5|10|-32;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=0,0,.,0,0,0,.,0,0,.,0;VEP_existing_OutOfFrame_oORFs=0,1,.,0,1,0,.,0,0,.,0;VEP_existing_uORFs=0,0,.,0,0,0,.,0,0,.,0;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=368819;gnomADv4_1_AC_joint_XX=192969;gnomADv4_1_AC_joint_XY=175850;gnomADv4_1_AF_grpmax_joint=0.678212;gnomADv4_1_AF_joint=0.334005;gnomADv4_1_AF_joint_XX=0.33421;gnomADv4_1_AF_joint_XY=0.33378;gnomADv4_1_AN_grpmax_joint=28988;gnomADv4_1_AN_joint=1104232;gnomADv4_1_AN_joint_XX=577388;gnomADv4_1_AN_joint_XY=526844;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=66978;gnomADv4_1_nhomalt_joint_XX=35110;gnomADv4_1_nhomalt_joint_XY=31868;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28773062 chr22_28773062_AGGGCGGGC_A AGGGCGGGC A 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=17.4;CADDIndel_Rawscore=2.13989;CSQ=-|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||1/4|ENST00000249064.9:c.185+41_185+48del|||||||rs139091725||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||GGGCGGGC|GGGCGGGC|||12|chr22:g.28773075_28773082del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||1/3|ENST00000421503.6:c.185+41_185+48del|||||||rs139091725||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||GGGCGGGC|GGGCGGGC|||12|chr22:g.28773075_28773082del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs139091725|171|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||GGGCGGGC|GGGCGGGC||||chr22:g.28773075_28773082del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||1/1|ENST00000444523.1:c.185+41_185+48del|||||||rs139091725||1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||GGGCGGGC|GGGCGGGC|||12|chr22:g.28773075_28773082del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||1/3|ENST00000448492.6:c.185+41_185+48del|||||||rs139091725||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||GGGCGGGC|GGGCGGGC|||12|chr22:g.28773075_28773082del|||||||||||||,-|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay|1/5||ENST00000453543.5:c.*37_*44del||360-367|||||rs139091725||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||GGGCGGGC|GGGCGGGC|||12|chr22:g.28773075_28773082del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs139091725|3284|1||||||||||||Ensembl||GGGCGGGC|GGGCGGGC||||chr22:g.28773075_28773082del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||1/3|NM_001284263.2:c.185+41_185+48del|||||||rs139091725||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||GGGCGGGC|GGGCGGGC|||12|chr22:g.28773075_28773082del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||1/3|NM_001284264.2:c.185+41_185+48del|||||||rs139091725||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||GGGCGGGC|GGGCGGGC|||12|chr22:g.28773075_28773082del|||||||||||||,-|upstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs139091725|67|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||GGGCGGGC|GGGCGGGC||||chr22:g.28773075_28773082del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||1/4|NM_173510.4:c.185+41_185+48del|||||||rs139091725||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||GGGCGGGC|GGGCGGGC|||12|chr22:g.28773075_28773082del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=312129;gnomADv4_1_AC_joint_XX=164130;gnomADv4_1_AC_joint_XY=147999;gnomADv4_1_AF_grpmax_joint=0.78275;gnomADv4_1_AF_joint=0.522241;gnomADv4_1_AF_joint_XX=0.521863;gnomADv4_1_AF_joint_XY=0.522662;gnomADv4_1_AN_grpmax_joint=14748;gnomADv4_1_AN_joint=597672;gnomADv4_1_AN_joint_XX=314508;gnomADv4_1_AN_joint_XY=283164;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64841;gnomADv4_1_nhomalt_joint_XX=34014;gnomADv4_1_nhomalt_joint_XY=30827;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28773302 chr22_28773302_C_A C A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.663;CADD_Rawscore=-0.12253;CSQ=A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||1/4|ENST00000249064.9:c.185+268C>A|||||||rs2235431||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||C|C||||chr22:g.28773302C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||1/3|ENST00000421503.6:c.185+268C>A|||||||rs2235431||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||C|C||||chr22:g.28773302C>A|||||||||||||,A|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding|1/5||ENST00000432510.1:c.-296C>A||62|||||rs2235431||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||C|C||||chr22:g.28773302C>A|||||||||0|1|6||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||1/1|ENST00000444523.1:c.185+268C>A|||||||rs2235431||1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||C|C||||chr22:g.28773302C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||1/3|ENST00000448492.6:c.185+268C>A|||||||rs2235431||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||C|C||||chr22:g.28773302C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||1/4|ENST00000453543.5:c.*185+79C>A|||||||rs2235431||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||C|C||||chr22:g.28773302C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs2235431|3523|1||||||||||||Ensembl||C|C||||chr22:g.28773302C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||1/3|NM_001284263.2:c.185+268C>A|||||||rs2235431||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||C|C||||chr22:g.28773302C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||1/3|NM_001284264.2:c.185+268C>A|||||||rs2235431||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||C|C||||chr22:g.28773302C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||1/4|NM_001284265.1:c.-212+79C>A|||||||rs2235431||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||C|C||||chr22:g.28773302C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||1/4|NM_173510.4:c.185+268C>A|||||||rs2235431||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||C|C||||chr22:g.28773302C>A|||||||||||||;SpliceAI=A|CCDC117|0.00|0.00|0.03|0.00|-50|-9|-11|-9;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,0,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,1,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,6,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16654;gnomADv4_1_AC_joint_XX=8397;gnomADv4_1_AC_joint_XY=8257;gnomADv4_1_AF_grpmax_joint=0.202312;gnomADv4_1_AF_joint=0.0979106;gnomADv4_1_AF_joint_XX=0.0975851;gnomADv4_1_AF_joint_XY=0.0982438;gnomADv4_1_AN_grpmax_joint=346;gnomADv4_1_AN_joint=170094;gnomADv4_1_AN_joint_XX=86048;gnomADv4_1_AN_joint_XY=84046;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1071;gnomADv4_1_nhomalt_joint_XX=538;gnomADv4_1_nhomalt_joint_XY=533;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28774070 chr22_28774070_G_GT G GT 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=31;CADDIndel_PHREDscore=1.051;CADDIndel_Rawscore=-0.005022;CSQ=T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||2/4|ENST00000249064.9:c.239+307dup|||||||rs67314143||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||||||15|chr22:g.28774085dup|||||||||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||2/3|ENST00000421503.6:c.239+307dup|||||||rs67314143||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||||||15|chr22:g.28774085dup|||||||||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||2/4|ENST00000432510.1:c.-158+307dup|||||||rs67314143||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||||||15|chr22:g.28774085dup|||||||||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||1/1|ENST00000444523.1:c.185+1051dup|||||||rs67314143||1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||||||15|chr22:g.28774085dup|||||||||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||1/3|ENST00000448492.6:c.185+1051dup|||||||rs67314143||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||||||15|chr22:g.28774085dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||2/4|ENST00000453543.5:c.*239+307dup|||||||rs67314143||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||||||15|chr22:g.28774085dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs67314143|4291|1||||||||||||Ensembl|||||||chr22:g.28774085dup|||||||||||||,T|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||1/3|NM_001284263.2:c.185+1051dup|||||||rs67314143||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||||||15|chr22:g.28774085dup|||||||||||||,T|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||2/3|NM_001284264.2:c.239+307dup|||||||rs67314143||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||||||15|chr22:g.28774085dup|||||||||||||,T|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||2/4|NM_001284265.1:c.-158+307dup|||||||rs67314143||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||||||15|chr22:g.28774085dup|||||||||||||,T|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||2/4|NM_173510.4:c.239+307dup|||||||rs67314143||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||||||15|chr22:g.28774085dup|||||||||||||;SpliceAI=GT|CCDC117|0.00|0.00|0.00|0.00|25|-10|43|17;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30563;gnomADv4_1_AC_joint_XX=15716;gnomADv4_1_AC_joint_XY=14847;gnomADv4_1_AF_grpmax_joint=0.462548;gnomADv4_1_AF_joint=0.242791;gnomADv4_1_AF_joint_XX=0.241213;gnomADv4_1_AF_joint_XY=0.244484;gnomADv4_1_AN_grpmax_joint=4192;gnomADv4_1_AN_joint=125882;gnomADv4_1_AN_joint_XX=65154;gnomADv4_1_AN_joint_XY=60728;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3581;gnomADv4_1_nhomalt_joint_XX=1824;gnomADv4_1_nhomalt_joint_XY=1757;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28774128 chr22_28774128_C_T C T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=5.219;CADD_Rawscore=0.476485;CSQ=T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||2/4|ENST00000249064.9:c.239+350C>T|||||||rs34573837||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||C|C||||chr22:g.28774128C>T|||||||||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||2/3|ENST00000421503.6:c.239+350C>T|||||||rs34573837||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||C|C||||chr22:g.28774128C>T|||||||||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||2/4|ENST00000432510.1:c.-158+350C>T|||||||rs34573837||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||C|C||||chr22:g.28774128C>T|||||||||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||1/1|ENST00000444523.1:c.185+1094C>T|||||||rs34573837||1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||C|C||||chr22:g.28774128C>T|||||||||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||1/3|ENST00000448492.6:c.185+1094C>T|||||||rs34573837||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||C|C||||chr22:g.28774128C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||2/4|ENST00000453543.5:c.*239+350C>T|||||||rs34573837||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||C|C||||chr22:g.28774128C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs34573837|4349|1||||||||||||Ensembl||C|C||||chr22:g.28774128C>T|||||||||||||,T|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||1/3|NM_001284263.2:c.185+1094C>T|||||||rs34573837||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||C|C||||chr22:g.28774128C>T|||||||||||||,T|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||2/3|NM_001284264.2:c.239+350C>T|||||||rs34573837||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||C|C||||chr22:g.28774128C>T|||||||||||||,T|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||2/4|NM_001284265.1:c.-158+350C>T|||||||rs34573837||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||C|C||||chr22:g.28774128C>T|||||||||||||,T|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||2/4|NM_173510.4:c.239+350C>T|||||||rs34573837||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||C|C||||chr22:g.28774128C>T|||||||||||||;SpliceAI=T|CCDC117|0.00|0.00|0.00|0.00|-41|-33|-2|5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17541;gnomADv4_1_AC_joint_XX=8973;gnomADv4_1_AC_joint_XY=8568;gnomADv4_1_AF_grpmax_joint=0.285933;gnomADv4_1_AF_joint=0.121398;gnomADv4_1_AF_joint_XX=0.120005;gnomADv4_1_AF_joint_XY=0.122892;gnomADv4_1_AN_grpmax_joint=4578;gnomADv4_1_AN_joint=144492;gnomADv4_1_AN_joint_XX=74772;gnomADv4_1_AN_joint_XY=69720;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1166;gnomADv4_1_nhomalt_joint_XX=574;gnomADv4_1_nhomalt_joint_XY=592;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28774150 chr22_28774150_C_G C G 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=2.309;CADD_Rawscore=0.202258;CSQ=G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||2/4|ENST00000249064.9:c.239+372C>G|||||||rs34751572||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||C|C||||chr22:g.28774150C>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||2/3|ENST00000421503.6:c.239+372C>G|||||||rs34751572||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||C|C||||chr22:g.28774150C>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||2/4|ENST00000432510.1:c.-158+372C>G|||||||rs34751572||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||C|C||||chr22:g.28774150C>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||1/1|ENST00000444523.1:c.185+1116C>G|||||||rs34751572||1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||C|C||||chr22:g.28774150C>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||1/3|ENST00000448492.6:c.185+1116C>G|||||||rs34751572||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||C|C||||chr22:g.28774150C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||2/4|ENST00000453543.5:c.*239+372C>G|||||||rs34751572||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||C|C||||chr22:g.28774150C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs34751572|4371|1||||||||||||Ensembl||C|C||||chr22:g.28774150C>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||1/3|NM_001284263.2:c.185+1116C>G|||||||rs34751572||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||C|C||||chr22:g.28774150C>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||2/3|NM_001284264.2:c.239+372C>G|||||||rs34751572||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||C|C||||chr22:g.28774150C>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||2/4|NM_001284265.1:c.-158+372C>G|||||||rs34751572||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||C|C||||chr22:g.28774150C>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||2/4|NM_173510.4:c.239+372C>G|||||||rs34751572||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||C|C||||chr22:g.28774150C>G|||||||||||||;SpliceAI=G|CCDC117|0.00|0.00|0.00|0.00|37|-37|-1|44;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16919;gnomADv4_1_AC_joint_XX=8634;gnomADv4_1_AC_joint_XY=8285;gnomADv4_1_AF_grpmax_joint=0.283998;gnomADv4_1_AF_joint=0.113868;gnomADv4_1_AF_joint_XX=0.113132;gnomADv4_1_AF_joint_XY=0.114646;gnomADv4_1_AN_grpmax_joint=4662;gnomADv4_1_AN_joint=148584;gnomADv4_1_AN_joint_XX=76318;gnomADv4_1_AN_joint_XY=72266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1129;gnomADv4_1_nhomalt_joint_XX=554;gnomADv4_1_nhomalt_joint_XY=575;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28774371 chr22_28774371_C_CT C CT 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=36;CADDIndel_PHREDscore=3.502;CADDIndel_Rawscore=0.320889;CSQ=T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||2/4|ENST00000249064.9:c.239+613dup|||||||rs35613553||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||||||20|chr22:g.28774391dup|||||||||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||2/3|ENST00000421503.6:c.239+613dup|||||||rs35613553||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||||||20|chr22:g.28774391dup|||||||||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||2/4|ENST00000432510.1:c.-158+613dup|||||||rs35613553||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||||||20|chr22:g.28774391dup|||||||||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||1/1|ENST00000444523.1:c.185+1357dup|||||||rs35613553||1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||||||20|chr22:g.28774391dup|||||||||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||1/3|ENST00000448492.6:c.185+1357dup|||||||rs35613553||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||||||20|chr22:g.28774391dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||2/4|ENST00000453543.5:c.*239+613dup|||||||rs35613553||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||||||20|chr22:g.28774391dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295361|Transcript|ENST00000729538|lncRNA||||||||||rs35613553|4592|1||||||||||||Ensembl|||||||chr22:g.28774391dup|||||||||||||,T|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||1/3|NM_001284263.2:c.185+1357dup|||||||rs35613553||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||||||20|chr22:g.28774391dup|||||||||||||,T|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||2/3|NM_001284264.2:c.239+613dup|||||||rs35613553||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||||||20|chr22:g.28774391dup|||||||||||||,T|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||2/4|NM_001284265.1:c.-158+613dup|||||||rs35613553||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||||||20|chr22:g.28774391dup|||||||||||||,T|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||2/4|NM_173510.4:c.239+613dup|||||||rs35613553||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||||||20|chr22:g.28774391dup|||||||||||||;SpliceAI=CT|CCDC117|0.00|0.00|0.00|0.00|29|14|23|-3;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,ENST00000729538,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000295361,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29304;gnomADv4_1_AC_joint_XX=15536;gnomADv4_1_AC_joint_XY=13768;gnomADv4_1_AF_grpmax_joint=0.477789;gnomADv4_1_AF_joint=0.240126;gnomADv4_1_AF_joint_XX=0.242447;gnomADv4_1_AF_joint_XY=0.23756;gnomADv4_1_AN_grpmax_joint=4142;gnomADv4_1_AN_joint=122036;gnomADv4_1_AN_joint_XX=64080;gnomADv4_1_AN_joint_XY=57956;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3782;gnomADv4_1_nhomalt_joint_XX=2009;gnomADv4_1_nhomalt_joint_XY=1773;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28775310 chr22_28775310_G_A G A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.647;CADD_Rawscore=-0.128756;CSQ=A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||2/4|ENST00000249064.9:c.239+1532G>A|||||||rs5762784||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||G|G||||chr22:g.28775310G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||2/3|ENST00000421503.6:c.239+1532G>A|||||||rs5762784||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||G|G||||chr22:g.28775310G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||2/4|ENST00000432510.1:c.-158+1532G>A|||||||rs5762784||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||G|G||||chr22:g.28775310G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||1/1|ENST00000444523.1:c.185+2276G>A|||||||rs5762784||1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||G|G||||chr22:g.28775310G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||1/3|ENST00000448492.6:c.185+2276G>A|||||||rs5762784||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||G|G||||chr22:g.28775310G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||2/4|ENST00000453543.5:c.*239+1532G>A|||||||rs5762784||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||G|G||||chr22:g.28775310G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||1/3|NM_001284263.2:c.185+2276G>A|||||||rs5762784||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||G|G||||chr22:g.28775310G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||2/3|NM_001284264.2:c.239+1532G>A|||||||rs5762784||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||G|G||||chr22:g.28775310G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||2/4|NM_001284265.1:c.-158+1532G>A|||||||rs5762784||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||G|G||||chr22:g.28775310G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||2/4|NM_173510.4:c.239+1532G>A|||||||rs5762784||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||G|G||||chr22:g.28775310G>A|||||||||||||;SpliceAI=A|CCDC117|0.00|0.00|0.00|0.00|-3|21|-3|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60270;gnomADv4_1_AC_joint_XX=30535;gnomADv4_1_AC_joint_XY=29735;gnomADv4_1_AF_grpmax_joint=0.677051;gnomADv4_1_AF_joint=0.396424;gnomADv4_1_AF_joint_XX=0.392895;gnomADv4_1_AF_joint_XY=0.400116;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152034;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13210;gnomADv4_1_nhomalt_joint_XX=6644;gnomADv4_1_nhomalt_joint_XY=6566;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28776372 chr22_28776372_T_C T C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.074;CADD_Rawscore=-0.692911;CSQ=C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||2/4|ENST00000249064.9:c.239+2594T>C|||||||rs137939||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||T|T||||chr22:g.28776372T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||2/3|ENST00000421503.6:c.239+2594T>C|||||||rs137939||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||T|T||||chr22:g.28776372T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||2/4|ENST00000432510.1:c.-158+2594T>C|||||||rs137939||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||T|T||||chr22:g.28776372T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||1/1|ENST00000444523.1:c.185+3338T>C|||||||rs137939||1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||T|T||||chr22:g.28776372T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||1/3|ENST00000448492.6:c.185+3338T>C|||||||rs137939||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||T|T||||chr22:g.28776372T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||2/4|ENST00000453543.5:c.*239+2594T>C|||||||rs137939||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||T|T||||chr22:g.28776372T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||1/3|NM_001284263.2:c.185+3338T>C|||||||rs137939||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||T|T||||chr22:g.28776372T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||2/3|NM_001284264.2:c.239+2594T>C|||||||rs137939||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||T|T||||chr22:g.28776372T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||2/4|NM_001284265.1:c.-158+2594T>C|||||||rs137939||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||T|T||||chr22:g.28776372T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||2/4|NM_173510.4:c.239+2594T>C|||||||rs137939||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||T|T||||chr22:g.28776372T>C|||||||||||||;SpliceAI=C|CCDC117|0.00|0.00|0.00|0.00|44|-1|44|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151536;gnomADv4_1_AC_joint_XX=77433;gnomADv4_1_AC_joint_XY=74103;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.995049;gnomADv4_1_AF_joint_XX=0.994848;gnomADv4_1_AF_joint_XY=0.995259;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152290;gnomADv4_1_AN_joint_XX=77834;gnomADv4_1_AN_joint_XY=74456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=75398;gnomADv4_1_nhomalt_joint_XX=38521;gnomADv4_1_nhomalt_joint_XY=36877;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28776910 chr22_28776910_T_G T G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.323;CADD_Rawscore=0.055171;CSQ=G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||2/4|ENST00000249064.9:c.239+3132T>G|||||||rs6005872||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||T|T||||chr22:g.28776910T>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||2/3|ENST00000421503.6:c.239+3132T>G|||||||rs6005872||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||T|T||||chr22:g.28776910T>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||2/4|ENST00000432510.1:c.-158+3132T>G|||||||rs6005872||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||T|T||||chr22:g.28776910T>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||1/1|ENST00000444523.1:c.185+3876T>G|||||||rs6005872||1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||T|T||||chr22:g.28776910T>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||1/3|ENST00000448492.6:c.185+3876T>G|||||||rs6005872||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||T|T||||chr22:g.28776910T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||2/4|ENST00000453543.5:c.*239+3132T>G|||||||rs6005872||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||T|T||||chr22:g.28776910T>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||1/3|NM_001284263.2:c.185+3876T>G|||||||rs6005872||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||T|T||||chr22:g.28776910T>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||2/3|NM_001284264.2:c.239+3132T>G|||||||rs6005872||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||T|T||||chr22:g.28776910T>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||2/4|NM_001284265.1:c.-158+3132T>G|||||||rs6005872||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||T|T||||chr22:g.28776910T>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||2/4|NM_173510.4:c.239+3132T>G|||||||rs6005872||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||T|T||||chr22:g.28776910T>G|||||||||||||;SpliceAI=G|CCDC117|0.00|0.00|0.00|0.00|1|-8|-49|45;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60247;gnomADv4_1_AC_joint_XX=30517;gnomADv4_1_AC_joint_XY=29730;gnomADv4_1_AF_grpmax_joint=0.676357;gnomADv4_1_AF_joint=0.397125;gnomADv4_1_AF_joint_XX=0.393483;gnomADv4_1_AF_joint_XY=0.400933;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151708;gnomADv4_1_AN_joint_XX=77556;gnomADv4_1_AN_joint_XY=74152;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13206;gnomADv4_1_nhomalt_joint_XX=6634;gnomADv4_1_nhomalt_joint_XY=6572;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28777081 chr22_28777081_C_G C G 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.385;CADD_Rawscore=0.067117;CSQ=G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||2/4|ENST00000249064.9:c.239+3303C>G|||||||rs35905502||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||C|C||||chr22:g.28777081C>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||2/3|ENST00000421503.6:c.239+3303C>G|||||||rs35905502||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||C|C||||chr22:g.28777081C>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||2/4|ENST00000432510.1:c.-158+3303C>G|||||||rs35905502||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||C|C||||chr22:g.28777081C>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||1/1|ENST00000444523.1:c.186-3867C>G|||||||rs35905502||1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||C|C||||chr22:g.28777081C>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||1/3|ENST00000448492.6:c.186-3867C>G|||||||rs35905502||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||C|C||||chr22:g.28777081C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||2/4|ENST00000453543.5:c.*239+3303C>G|||||||rs35905502||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||C|C||||chr22:g.28777081C>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||1/3|NM_001284263.2:c.186-3867C>G|||||||rs35905502||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||C|C||||chr22:g.28777081C>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||2/3|NM_001284264.2:c.239+3303C>G|||||||rs35905502||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||C|C||||chr22:g.28777081C>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||2/4|NM_001284265.1:c.-158+3303C>G|||||||rs35905502||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||C|C||||chr22:g.28777081C>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||2/4|NM_173510.4:c.239+3303C>G|||||||rs35905502||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||C|C||||chr22:g.28777081C>G|||||||||||||;SpliceAI=G|CCDC117|0.00|0.00|0.00|0.00|-1|-25|-1|-25;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17675;gnomADv4_1_AC_joint_XX=9038;gnomADv4_1_AC_joint_XY=8637;gnomADv4_1_AF_grpmax_joint=0.286342;gnomADv4_1_AF_joint=0.124609;gnomADv4_1_AF_joint_XX=0.122636;gnomADv4_1_AF_joint_XY=0.126743;gnomADv4_1_AN_grpmax_joint=4554;gnomADv4_1_AN_joint=141844;gnomADv4_1_AN_joint_XX=73698;gnomADv4_1_AN_joint_XY=68146;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1185;gnomADv4_1_nhomalt_joint_XX=580;gnomADv4_1_nhomalt_joint_XY=605;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28777133 chr22_28777133_T_G T G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.925;CADD_Rawscore=-0.037998;CSQ=G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||2/4|ENST00000249064.9:c.239+3355T>G|||||||rs7285695||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||T|T||||chr22:g.28777133T>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||2/3|ENST00000421503.6:c.239+3355T>G|||||||rs7285695||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||T|T||||chr22:g.28777133T>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||2/4|ENST00000432510.1:c.-158+3355T>G|||||||rs7285695||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||T|T||||chr22:g.28777133T>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||1/1|ENST00000444523.1:c.186-3815T>G|||||||rs7285695||1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||T|T||||chr22:g.28777133T>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||1/3|ENST00000448492.6:c.186-3815T>G|||||||rs7285695||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||T|T||||chr22:g.28777133T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||2/4|ENST00000453543.5:c.*239+3355T>G|||||||rs7285695||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||T|T||||chr22:g.28777133T>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||1/3|NM_001284263.2:c.186-3815T>G|||||||rs7285695||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||T|T||||chr22:g.28777133T>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||2/3|NM_001284264.2:c.239+3355T>G|||||||rs7285695||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||T|T||||chr22:g.28777133T>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||2/4|NM_001284265.1:c.-158+3355T>G|||||||rs7285695||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||T|T||||chr22:g.28777133T>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||2/4|NM_173510.4:c.239+3355T>G|||||||rs7285695||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||T|T||||chr22:g.28777133T>G|||||||||||||;SpliceAI=G|CCDC117|0.00|0.00|0.00|0.00|0|49|0|48;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38232;gnomADv4_1_AC_joint_XX=19578;gnomADv4_1_AC_joint_XY=18654;gnomADv4_1_AF_grpmax_joint=0.485941;gnomADv4_1_AF_joint=0.256449;gnomADv4_1_AF_joint_XX=0.256532;gnomADv4_1_AF_joint_XY=0.256363;gnomADv4_1_AN_grpmax_joint=4908;gnomADv4_1_AN_joint=149082;gnomADv4_1_AN_joint_XX=76318;gnomADv4_1_AN_joint_XY=72764;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5572;gnomADv4_1_nhomalt_joint_XX=2858;gnomADv4_1_nhomalt_joint_XY=2714;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28778782 chr22_28778782_C_A C A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.627;CADD_Rawscore=0.109502;CSQ=A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||2/4|ENST00000249064.9:c.240-2166C>A|||||||rs5762788||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||C|C||||chr22:g.28778782C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||2/3|ENST00000421503.6:c.240-4726C>A|||||||rs5762788||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||C|C||||chr22:g.28778782C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||2/4|ENST00000432510.1:c.-157-2166C>A|||||||rs5762788||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||C|C||||chr22:g.28778782C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||1/1|ENST00000444523.1:c.186-2166C>A|||||||rs5762788||1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||C|C||||chr22:g.28778782C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||1/3|ENST00000448492.6:c.186-2166C>A|||||||rs5762788||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||C|C||||chr22:g.28778782C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||2/4|ENST00000453543.5:c.*240-2166C>A|||||||rs5762788||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||C|C||||chr22:g.28778782C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||1/3|NM_001284263.2:c.186-2166C>A|||||||rs5762788||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||C|C||||chr22:g.28778782C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||2/3|NM_001284264.2:c.240-4726C>A|||||||rs5762788||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||C|C||||chr22:g.28778782C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||2/4|NM_001284265.1:c.-157-2166C>A|||||||rs5762788||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||C|C||||chr22:g.28778782C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||2/4|NM_173510.4:c.240-2166C>A|||||||rs5762788||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||C|C||||chr22:g.28778782C>A|||||||||||||;SpliceAI=A|CCDC117|0.00|0.00|0.00|0.00|21|-33|-3|24;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60210;gnomADv4_1_AC_joint_XX=30483;gnomADv4_1_AC_joint_XY=29727;gnomADv4_1_AF_grpmax_joint=0.675106;gnomADv4_1_AF_joint=0.396264;gnomADv4_1_AF_joint_XX=0.392428;gnomADv4_1_AF_joint_XY=0.400277;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=151944;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13190;gnomADv4_1_nhomalt_joint_XX=6627;gnomADv4_1_nhomalt_joint_XY=6563;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28779191 chr22_28779191_ATACT_A ATACT A 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=1.024;CADDIndel_Rawscore=-0.011605;CSQ=-|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||2/4|ENST00000249064.9:c.240-1755_240-1752del|||||||rs57250859||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||TACT|TACT|||1|chr22:g.28779193_28779196del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||2/3|ENST00000421503.6:c.240-4315_240-4312del|||||||rs57250859||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||TACT|TACT|||1|chr22:g.28779193_28779196del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||2/4|ENST00000432510.1:c.-157-1755_-157-1752del|||||||rs57250859||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||TACT|TACT|||1|chr22:g.28779193_28779196del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||1/1|ENST00000444523.1:c.186-1755_186-1752del|||||||rs57250859||1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||TACT|TACT|||1|chr22:g.28779193_28779196del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||1/3|ENST00000448492.6:c.186-1755_186-1752del|||||||rs57250859||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||TACT|TACT|||1|chr22:g.28779193_28779196del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||2/4|ENST00000453543.5:c.*240-1755_*240-1752del|||||||rs57250859||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||TACT|TACT|||1|chr22:g.28779193_28779196del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||1/3|NM_001284263.2:c.186-1755_186-1752del|||||||rs57250859||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||TACT|TACT|||1|chr22:g.28779193_28779196del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||2/3|NM_001284264.2:c.240-4315_240-4312del|||||||rs57250859||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||TACT|TACT|||1|chr22:g.28779193_28779196del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||2/4|NM_001284265.1:c.-157-1755_-157-1752del|||||||rs57250859||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||TACT|TACT|||1|chr22:g.28779193_28779196del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||2/4|NM_173510.4:c.240-1755_240-1752del|||||||rs57250859||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||TACT|TACT|||1|chr22:g.28779193_28779196del|||||||||||||;SpliceAI=A|CCDC117|0.00|0.00|0.01|0.00|25|32|-37|24;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36604;gnomADv4_1_AC_joint_XX=18718;gnomADv4_1_AC_joint_XY=17886;gnomADv4_1_AF_grpmax_joint=0.479782;gnomADv4_1_AF_joint=0.241337;gnomADv4_1_AF_joint_XX=0.241367;gnomADv4_1_AF_joint_XY=0.241305;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=151672;gnomADv4_1_AN_joint_XX=77550;gnomADv4_1_AN_joint_XY=74122;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4965;gnomADv4_1_nhomalt_joint_XX=2549;gnomADv4_1_nhomalt_joint_XY=2416;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28780959 chr22_28780959_G_C G C 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;AlphaMissense_class=likely_pathogenic;AlphaMissense_pathogenicity=0.5675;AlphaMissense_protein_variant=R84T;AlphaMissense_transcript_id=ENST00000249064.9;AlphaMissense_uniprot_id=Q8IWD4;CADD_PHREDscore=25.3;CADD_Rawscore=4.42811;CSQ=C|missense_variant|MODERATE|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding|3/5||ENST00000249064.9:c.251G>C|ENSP00000249064.4:p.Arg84Thr|406|251|84|R/T|aGa/aCa|rs2146250875||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||G|G||||chr22:g.28780959G>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||2/3|ENST00000421503.6:c.240-2549G>C|||||||rs2146250875||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||G|G||||chr22:g.28780959G>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding|3/5||ENST00000432510.1:c.-146G>C||212|||||rs2146250875||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||G|G||||chr22:g.28780959G>C|||||||||0|1|6||,C|missense_variant|MODERATE|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding|2/2||ENST00000444523.1:c.197G>C|ENSP00000399536.1:p.Arg66Thr|319|197|66|R/T|aGa/aCa|rs2146250875||1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||G|G||||chr22:g.28780959G>C|||||||||||||,C|missense_variant|MODERATE|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding|2/4||ENST00000448492.6:c.197G>C|ENSP00000389478.2:p.Arg66Thr|373|197|66|R/T|aGa/aCa|rs2146250875||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||G|G||||chr22:g.28780959G>C|||||||||||||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay|3/5||ENST00000453543.5:c.*251G>C||586|||||rs2146250875||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||G|G||||chr22:g.28780959G>C|||||||||||||,C|missense_variant|MODERATE|CCDC117|150275|Transcript|NM_001284263.2|protein_coding|2/4||NM_001284263.2:c.197G>C|NP_001271192.1:p.Arg66Thr|352|197|66|R/T|aGa/aCa|rs2146250875||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||G|G||||chr22:g.28780959G>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||2/3|NM_001284264.2:c.240-2549G>C|||||||rs2146250875||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||G|G||||chr22:g.28780959G>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding|3/5||NM_001284265.1:c.-146G>C||153|||||rs2146250875||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||G|G||||chr22:g.28780959G>C|||||||||0|1|6||,C|missense_variant|MODERATE|CCDC117|150275|Transcript|NM_173510.4|protein_coding|3/5||NM_173510.4:c.251G>C|NP_775781.1:p.Arg84Thr|406|251|84|R/T|aGa/aCa|rs2146250875||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||G|G||||chr22:g.28780959G>C|||||||||||||;REVEL_score=0.157;SpliceAI=C|CCDC117|0.00|0.00|0.00|0.00|-11|1|10|-5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,0,.,.,.,.,.,0,.;VEP_existing_OutOfFrame_oORFs=.,.,1,.,.,.,.,.,1,.;VEP_existing_uORFs=.,.,6,.,.,.,.,.,6,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28781335 chr22_28781335_GTTTTT_G GTTTTT G 15 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=15;CADDIndel_PHREDscore=0.941;CADDIndel_Rawscore=-0.03354;CSQ=-|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||3/4|ENST00000249064.9:c.464+192_464+196del|||||||rs1179781447||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||TTTTT|TTTTT|||28|chr22:g.28781364_28781368del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||2/3|ENST00000421503.6:c.240-2144_240-2140del|||||||rs1179781447||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||TTTTT|TTTTT|||28|chr22:g.28781364_28781368del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||3/4|ENST00000432510.1:c.68+192_68+196del|||||||rs1179781447||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||TTTTT|TTTTT|||28|chr22:g.28781364_28781368del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs1179781447|233|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||TTTTT|TTTTT||||chr22:g.28781364_28781368del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||2/3|ENST00000448492.6:c.410+192_410+196del|||||||rs1179781447||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||TTTTT|TTTTT|||28|chr22:g.28781364_28781368del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||3/4|ENST00000453543.5:c.*464+192_*464+196del|||||||rs1179781447||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||TTTTT|TTTTT|||28|chr22:g.28781364_28781368del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||2/3|NM_001284263.2:c.410+192_410+196del|||||||rs1179781447||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||TTTTT|TTTTT|||28|chr22:g.28781364_28781368del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||2/3|NM_001284264.2:c.240-2144_240-2140del|||||||rs1179781447||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||TTTTT|TTTTT|||28|chr22:g.28781364_28781368del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||3/4|NM_001284265.1:c.68+192_68+196del|||||||rs1179781447||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||TTTTT|TTTTT|||28|chr22:g.28781364_28781368del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||3/4|NM_173510.4:c.464+192_464+196del|||||||rs1179781447||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||TTTTT|TTTTT|||28|chr22:g.28781364_28781368del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=0;gnomADv4_1_AC_joint_XX=0;gnomADv4_1_AC_joint_XY=0;gnomADv4_1_AF_joint=0.0;gnomADv4_1_AF_joint_XX=0.0;gnomADv4_1_AF_joint_XY=0.0;gnomADv4_1_AN_joint=14820;gnomADv4_1_AN_joint_XX=8828;gnomADv4_1_AN_joint_XY=5992;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28782142 chr22_28782142_T_C T C 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=4.467;CADD_Rawscore=0.406913;CSQ=C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||3/4|ENST00000249064.9:c.464+970T>C|||||||rs36112964||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||T|T||||chr22:g.28782142T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||2/3|ENST00000421503.6:c.240-1366T>C|||||||rs36112964||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||T|T||||chr22:g.28782142T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||3/4|ENST00000432510.1:c.68+970T>C|||||||rs36112964||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||T|T||||chr22:g.28782142T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs36112964|1039|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||T|T||||chr22:g.28782142T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||2/3|ENST00000448492.6:c.410+970T>C|||||||rs36112964||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||T|T||||chr22:g.28782142T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||3/4|ENST00000453543.5:c.*464+970T>C|||||||rs36112964||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||T|T||||chr22:g.28782142T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||2/3|NM_001284263.2:c.410+970T>C|||||||rs36112964||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||T|T||||chr22:g.28782142T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||2/3|NM_001284264.2:c.240-1366T>C|||||||rs36112964||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||T|T||||chr22:g.28782142T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||3/4|NM_001284265.1:c.68+970T>C|||||||rs36112964||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||T|T||||chr22:g.28782142T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||3/4|NM_173510.4:c.464+970T>C|||||||rs36112964||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||T|T||||chr22:g.28782142T>C|||||||||||||;SpliceAI=C|CCDC117|0.01|0.00|0.00|0.00|-19|22|-33|-16;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17341;gnomADv4_1_AC_joint_XX=8826;gnomADv4_1_AC_joint_XY=8515;gnomADv4_1_AF_grpmax_joint=0.279547;gnomADv4_1_AF_joint=0.114498;gnomADv4_1_AF_joint_XX=0.113881;gnomADv4_1_AF_joint_XY=0.115145;gnomADv4_1_AN_grpmax_joint=4772;gnomADv4_1_AN_joint=151452;gnomADv4_1_AN_joint_XX=77502;gnomADv4_1_AN_joint_XY=73950;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1161;gnomADv4_1_nhomalt_joint_XX=567;gnomADv4_1_nhomalt_joint_XY=594;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28782832 chr22_28782832_T_C T C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.892;CADD_Rawscore=-0.047154;CSQ=C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||3/4|ENST00000249064.9:c.465-676T>C|||||||rs5752795||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||T|T||||chr22:g.28782832T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||2/3|ENST00000421503.6:c.240-676T>C|||||||rs5752795||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||T|T||||chr22:g.28782832T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||3/4|ENST00000432510.1:c.69-676T>C|||||||rs5752795||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||T|T||||chr22:g.28782832T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs5752795|1729|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||T|T||||chr22:g.28782832T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||2/3|ENST00000448492.6:c.411-676T>C|||||||rs5752795||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||T|T||||chr22:g.28782832T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||3/4|ENST00000453543.5:c.*465-676T>C|||||||rs5752795||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||T|T||||chr22:g.28782832T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||2/3|NM_001284263.2:c.411-676T>C|||||||rs5752795||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||T|T||||chr22:g.28782832T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||2/3|NM_001284264.2:c.240-676T>C|||||||rs5752795||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||T|T||||chr22:g.28782832T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||3/4|NM_001284265.1:c.69-676T>C|||||||rs5752795||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||T|T||||chr22:g.28782832T>C|||||||||||||,C|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||3/4|NM_173510.4:c.465-676T>C|||||||rs5752795||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||T|T||||chr22:g.28782832T>C|||||||||||||;SpliceAI=C|CCDC117|0.00|0.00|0.01|0.00|-49|40|44|-3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60386;gnomADv4_1_AC_joint_XX=30603;gnomADv4_1_AC_joint_XY=29783;gnomADv4_1_AF_grpmax_joint=0.677812;gnomADv4_1_AF_joint=0.39725;gnomADv4_1_AF_joint_XX=0.39377;gnomADv4_1_AF_joint_XY=0.400891;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152010;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13263;gnomADv4_1_nhomalt_joint_XX=6675;gnomADv4_1_nhomalt_joint_XY=6588;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28782868 chr22_28782868_G_A G A 58 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.937;CADD_Rawscore=0.155486;CSQ=A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||3/4|ENST00000249064.9:c.465-640G>A|||||||rs5752796||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||G|G||||chr22:g.28782868G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||2/3|ENST00000421503.6:c.240-640G>A|||||||rs5752796||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||G|G||||chr22:g.28782868G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||3/4|ENST00000432510.1:c.69-640G>A|||||||rs5752796||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||G|G||||chr22:g.28782868G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs5752796|1765|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||G|G||||chr22:g.28782868G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||2/3|ENST00000448492.6:c.411-640G>A|||||||rs5752796||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||G|G||||chr22:g.28782868G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||3/4|ENST00000453543.5:c.*465-640G>A|||||||rs5752796||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||G|G||||chr22:g.28782868G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||2/3|NM_001284263.2:c.411-640G>A|||||||rs5752796||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||G|G||||chr22:g.28782868G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||2/3|NM_001284264.2:c.240-640G>A|||||||rs5752796||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||G|G||||chr22:g.28782868G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||3/4|NM_001284265.1:c.69-640G>A|||||||rs5752796||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||G|G||||chr22:g.28782868G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||3/4|NM_173510.4:c.465-640G>A|||||||rs5752796||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||G|G||||chr22:g.28782868G>A|||||||||||||;SpliceAI=A|CCDC117|0.00|0.00|0.00|0.00|2|-42|-17|8;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17216;gnomADv4_1_AC_joint_XX=8730;gnomADv4_1_AC_joint_XY=8486;gnomADv4_1_AF_grpmax_joint=0.280149;gnomADv4_1_AF_joint=0.113125;gnomADv4_1_AF_joint_XX=0.112217;gnomADv4_1_AF_joint_XY=0.114074;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152186;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1167;gnomADv4_1_nhomalt_joint_XX=569;gnomADv4_1_nhomalt_joint_XY=598;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28783751 chr22_28783751_C_A C A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.522;CADD_Rawscore=0.322692;CSQ=A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||4/4|ENST00000249064.9:c.602+106C>A|||||||rs2347447||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||C|C||||chr22:g.28783751C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||3/3|ENST00000421503.6:c.377+106C>A|||||||rs2347447||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||C|C||||chr22:g.28783751C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||4/4|ENST00000432510.1:c.206+106C>A|||||||rs2347447||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||C|C||||chr22:g.28783751C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs2347447|2648|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||C|C||||chr22:g.28783751C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||3/3|ENST00000448492.6:c.548+106C>A|||||||rs2347447||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||C|C||||chr22:g.28783751C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||4/4|ENST00000453543.5:c.*602+106C>A|||||||rs2347447||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||C|C||||chr22:g.28783751C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||3/3|NM_001284263.2:c.548+106C>A|||||||rs2347447||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||C|C||||chr22:g.28783751C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||3/3|NM_001284264.2:c.377+106C>A|||||||rs2347447||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||C|C||||chr22:g.28783751C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||4/4|NM_001284265.1:c.206+106C>A|||||||rs2347447||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||C|C||||chr22:g.28783751C>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||4/4|NM_173510.4:c.602+106C>A|||||||rs2347447||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||C|C||||chr22:g.28783751C>A|||||||||||||;SpliceAI=A|CCDC117|0.00|0.00|0.00|0.00|31|5|4|40;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=366867;gnomADv4_1_AC_joint_XX=177313;gnomADv4_1_AC_joint_XY=189554;gnomADv4_1_AF_grpmax_joint=0.676999;gnomADv4_1_AF_joint=0.348471;gnomADv4_1_AF_joint_XX=0.343723;gnomADv4_1_AF_joint_XY=0.353032;gnomADv4_1_AN_grpmax_joint=41424;gnomADv4_1_AN_joint=1052792;gnomADv4_1_AN_joint_XX=515860;gnomADv4_1_AN_joint_XY=536932;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70607;gnomADv4_1_nhomalt_joint_XX=33685;gnomADv4_1_nhomalt_joint_XY=36922;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28784010 chr22_28784010_C_T C T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.283;CADD_Rawscore=0.047113;CSQ=T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||4/4|ENST00000249064.9:c.602+365C>T|||||||rs5752797||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||C|C||||chr22:g.28784010C>T|||||||||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||3/3|ENST00000421503.6:c.377+365C>T|||||||rs5752797||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||C|C||||chr22:g.28784010C>T|||||||||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||4/4|ENST00000432510.1:c.206+365C>T|||||||rs5752797||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||C|C||||chr22:g.28784010C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs5752797|2907|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||C|C||||chr22:g.28784010C>T|||||||||||||,T|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||3/3|ENST00000448492.6:c.548+365C>T|||||||rs5752797||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||C|C||||chr22:g.28784010C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||4/4|ENST00000453543.5:c.*602+365C>T|||||||rs5752797||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||C|C||||chr22:g.28784010C>T|||||||||||||,T|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||3/3|NM_001284263.2:c.548+365C>T|||||||rs5752797||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||C|C||||chr22:g.28784010C>T|||||||||||||,T|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||3/3|NM_001284264.2:c.377+365C>T|||||||rs5752797||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||C|C||||chr22:g.28784010C>T|||||||||||||,T|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||4/4|NM_001284265.1:c.206+365C>T|||||||rs5752797||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||C|C||||chr22:g.28784010C>T|||||||||||||,T|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||4/4|NM_173510.4:c.602+365C>T|||||||rs5752797||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||C|C||||chr22:g.28784010C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7P8C|enhancer||||||||||rs5752797|||||||||||||||||||||chr22:g.28784010C>T|||||||||||||;SpliceAI=T|CCDC117|0.00|0.00|0.00|0.00|11|-16|-42|18;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4,ENSR22_B7P8C;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275,.;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38793;gnomADv4_1_AC_joint_XX=19820;gnomADv4_1_AC_joint_XY=18973;gnomADv4_1_AF_grpmax_joint=0.482792;gnomADv4_1_AF_joint=0.255143;gnomADv4_1_AF_joint_XX=0.254998;gnomADv4_1_AF_joint_XY=0.255295;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5720;gnomADv4_1_nhomalt_joint_XX=2923;gnomADv4_1_nhomalt_joint_XY=2797;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28785177 chr22_28785177_C_CTTGTT C CTTGTT 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=1.169;CADDIndel_Rawscore=0.022718;CSQ=TTGTT|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||4/4|ENST00000249064.9:c.603-892_603-888dup|||||||rs57485961||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||||||24|chr22:g.28785197_28785201dup|||||||||||||,TTGTT|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||3/3|ENST00000421503.6:c.378-892_378-888dup|||||||rs57485961||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||||||24|chr22:g.28785197_28785201dup|||||||||||||,TTGTT|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||4/4|ENST00000432510.1:c.207-892_207-888dup|||||||rs57485961||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||||||24|chr22:g.28785197_28785201dup|||||||||||||,TTGTT|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs57485961|4074|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl|||||||chr22:g.28785197_28785201dup|||||||||||||,TTGTT|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||3/3|ENST00000448492.6:c.549-892_549-888dup|||||||rs57485961||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||||||24|chr22:g.28785197_28785201dup|||||||||||||,TTGTT|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||4/4|ENST00000453543.5:c.*603-892_*603-888dup|||||||rs57485961||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||||||24|chr22:g.28785197_28785201dup|||||||||||||,TTGTT|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||3/3|NM_001284263.2:c.549-892_549-888dup|||||||rs57485961||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||||||24|chr22:g.28785197_28785201dup|||||||||||||,TTGTT|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||3/3|NM_001284264.2:c.378-892_378-888dup|||||||rs57485961||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||||||24|chr22:g.28785197_28785201dup|||||||||||||,TTGTT|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||4/4|NM_001284265.1:c.207-892_207-888dup|||||||rs57485961||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||||||24|chr22:g.28785197_28785201dup|||||||||||||,TTGTT|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||4/4|NM_173510.4:c.603-892_603-888dup|||||||rs57485961||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||||||24|chr22:g.28785197_28785201dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTGTT,TTGTT,TTGTT,TTGTT,TTGTT,TTGTT,TTGTT,TTGTT,TTGTT,TTGTT;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19145;gnomADv4_1_AC_joint_XX=9779;gnomADv4_1_AC_joint_XY=9366;gnomADv4_1_AF_grpmax_joint=0.279226;gnomADv4_1_AF_joint=0.126647;gnomADv4_1_AF_joint_XX=0.126494;gnomADv4_1_AF_joint_XY=0.126807;gnomADv4_1_AN_grpmax_joint=4756;gnomADv4_1_AN_joint=151168;gnomADv4_1_AN_joint_XX=77308;gnomADv4_1_AN_joint_XY=73860;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1340;gnomADv4_1_nhomalt_joint_XX=669;gnomADv4_1_nhomalt_joint_XY=671;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28785314 chr22_28785314_G_A G A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.8;CADD_Rawscore=0.13602;CSQ=A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||4/4|ENST00000249064.9:c.603-775G>A|||||||rs5762794||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||G|G||||chr22:g.28785314G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||3/3|ENST00000421503.6:c.378-775G>A|||||||rs5762794||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||G|G||||chr22:g.28785314G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||4/4|ENST00000432510.1:c.207-775G>A|||||||rs5762794||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||G|G||||chr22:g.28785314G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs5762794|4211|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||G|G||||chr22:g.28785314G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||3/3|ENST00000448492.6:c.549-775G>A|||||||rs5762794||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||G|G||||chr22:g.28785314G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||4/4|ENST00000453543.5:c.*603-775G>A|||||||rs5762794||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||G|G||||chr22:g.28785314G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||3/3|NM_001284263.2:c.549-775G>A|||||||rs5762794||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||G|G||||chr22:g.28785314G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||3/3|NM_001284264.2:c.378-775G>A|||||||rs5762794||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||G|G||||chr22:g.28785314G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||4/4|NM_001284265.1:c.207-775G>A|||||||rs5762794||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||G|G||||chr22:g.28785314G>A|||||||||||||,A|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||4/4|NM_173510.4:c.603-775G>A|||||||rs5762794||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||G|G||||chr22:g.28785314G>A|||||||||||||;SpliceAI=A|CCDC117|0.00|0.00|0.00|0.00|38|-24|-25|46;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15768;gnomADv4_1_AC_joint_XX=7961;gnomADv4_1_AC_joint_XY=7807;gnomADv4_1_AF_grpmax_joint=0.280432;gnomADv4_1_AF_joint=0.103759;gnomADv4_1_AF_joint_XX=0.102463;gnomADv4_1_AF_joint_XY=0.105114;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=151968;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1117;gnomADv4_1_nhomalt_joint_XX=538;gnomADv4_1_nhomalt_joint_XY=579;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28785880 chr22_28785880_A_G A G 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.379;CADD_Rawscore=0.066038;CSQ=G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||4/4|ENST00000249064.9:c.603-209A>G|||||||rs5752798||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||A|A||||chr22:g.28785880A>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||3/3|ENST00000421503.6:c.378-209A>G|||||||rs5752798||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||A|A||||chr22:g.28785880A>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||4/4|ENST00000432510.1:c.207-209A>G|||||||rs5752798||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||A|A||||chr22:g.28785880A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs5752798|4777|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||A|A||||chr22:g.28785880A>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||3/3|ENST00000448492.6:c.549-209A>G|||||||rs5752798||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||A|A||||chr22:g.28785880A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||4/4|ENST00000453543.5:c.*603-209A>G|||||||rs5752798||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||A|A||||chr22:g.28785880A>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||3/3|NM_001284263.2:c.549-209A>G|||||||rs5752798||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||A|A||||chr22:g.28785880A>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||3/3|NM_001284264.2:c.378-209A>G|||||||rs5752798||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||A|A||||chr22:g.28785880A>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||4/4|NM_001284265.1:c.207-209A>G|||||||rs5752798||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||A|A||||chr22:g.28785880A>G|||||||||||||,G|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||4/4|NM_173510.4:c.603-209A>G|||||||rs5752798||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||A|A||||chr22:g.28785880A>G|||||||||||||;SpliceAI=G|CCDC117|0.00|0.00|0.00|0.00|-30|29|27|-16;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59231;gnomADv4_1_AC_joint_XX=30086;gnomADv4_1_AC_joint_XY=29145;gnomADv4_1_AF_grpmax_joint=0.674725;gnomADv4_1_AF_joint=0.395052;gnomADv4_1_AF_joint_XX=0.391439;gnomADv4_1_AF_joint_XY=0.398853;gnomADv4_1_AN_grpmax_joint=5088;gnomADv4_1_AN_joint=149932;gnomADv4_1_AN_joint_XX=76860;gnomADv4_1_AN_joint_XY=73072;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12955;gnomADv4_1_nhomalt_joint_XX=6528;gnomADv4_1_nhomalt_joint_XY=6427;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28785924 chr22_28785924_TA_T TA T 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.202;CADDIndel_Rawscore=-0.424667;CSQ=-|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||4/4|ENST00000249064.9:c.603-148del|||||||rs35631283||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||A|A|||16|chr22:g.28785941del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||3/3|ENST00000421503.6:c.378-148del|||||||rs35631283||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||A|A|||16|chr22:g.28785941del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||4/4|ENST00000432510.1:c.207-148del|||||||rs35631283||1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||A|A|||16|chr22:g.28785941del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000444523|protein_coding||||||||||rs35631283|4822|1|cds_end_NF|HGNC|HGNC:26599|4||ENSP00000399536||B0QYH1.76|UPI000161104B|||Ensembl||A|A||||chr22:g.28785941del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||3/3|ENST00000448492.6:c.549-148del|||||||rs35631283||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||A|A|||16|chr22:g.28785941del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||4/4|ENST00000453543.5:c.*603-148del|||||||rs35631283||1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||A|A|||16|chr22:g.28785941del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||3/3|NM_001284263.2:c.549-148del|||||||rs35631283||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||A|A|||16|chr22:g.28785941del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||3/3|NM_001284264.2:c.378-148del|||||||rs35631283||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||A|A|||16|chr22:g.28785941del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||4/4|NM_001284265.1:c.207-148del|||||||rs35631283||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||A|A|||16|chr22:g.28785941del|||||||||||||,-|intron_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||4/4|NM_173510.4:c.603-148del|||||||rs35631283||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||A|A|||16|chr22:g.28785941del|||||||||||||;SpliceAI=T|CCDC117|0.00|0.00|0.00|0.00|33|3|35|21;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000444523,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20875;gnomADv4_1_AC_joint_XX=10834;gnomADv4_1_AC_joint_XY=10041;gnomADv4_1_AF_grpmax_joint=0.295434;gnomADv4_1_AF_joint=0.153619;gnomADv4_1_AF_joint_XX=0.153608;gnomADv4_1_AF_joint_XY=0.153631;gnomADv4_1_AN_grpmax_joint=4380;gnomADv4_1_AN_joint=135888;gnomADv4_1_AN_joint_XX=70530;gnomADv4_1_AN_joint_XY=65358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1629;gnomADv4_1_nhomalt_joint_XX=853;gnomADv4_1_nhomalt_joint_XY=776;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28786512 chr22_28786512_C_A C A 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=14.57;CADD_Rawscore=1.56606;CSQ=A|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding|5/5||ENST00000249064.9:c.*186C>A||1181|||||rs5762795||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||C|C||||chr22:g.28786512C>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding|4/4||ENST00000421503.6:c.*186C>A||977|||||rs5762795||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||C|C||||chr22:g.28786512C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs5762795|419|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||C|C||||chr22:g.28786512C>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding|4/4||ENST00000448492.6:c.*186C>A||1148|||||rs5762795||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||C|C||||chr22:g.28786512C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs5762795|335|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||C|C||||chr22:g.28786512C>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding|4/4||NM_001284263.2:c.*186C>A||1127|||||rs5762795||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||C|C||||chr22:g.28786512C>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding|4/4||NM_001284264.2:c.*186C>A||956|||||rs5762795||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||C|C||||chr22:g.28786512C>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding|5/5||NM_001284265.1:c.*186C>A||928|||||rs5762795||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||C|C||||chr22:g.28786512C>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding|5/5||NM_173510.4:c.*186C>A||1181|||||rs5762795||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||C|C||||chr22:g.28786512C>A|||||||||||||;SpliceAI=A|CCDC117|0.00|0.00|0.00|0.00|2|-2|2|-36;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=213718;gnomADv4_1_AC_joint_XX=103006;gnomADv4_1_AC_joint_XY=110712;gnomADv4_1_AF_grpmax_joint=0.677691;gnomADv4_1_AF_joint=0.387457;gnomADv4_1_AF_joint_XX=0.384308;gnomADv4_1_AF_joint_XY=0.390433;gnomADv4_1_AN_grpmax_joint=33924;gnomADv4_1_AN_joint=551592;gnomADv4_1_AN_joint_XX=268030;gnomADv4_1_AN_joint_XY=283562;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46522;gnomADv4_1_nhomalt_joint_XX=22353;gnomADv4_1_nhomalt_joint_XY=24169;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28787145 chr22_28787145_A_G A G 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.367;CADD_Rawscore=0.063828;CSQ=G|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding|5/5||ENST00000249064.9:c.*819A>G||1814|||||rs6005881||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||A|A||||chr22:g.28787145A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding|4/4||ENST00000421503.6:c.*819A>G||1610|||||rs6005881||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||A|A||||chr22:g.28787145A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs6005881|1052|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||A|A||||chr22:g.28787145A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding|4/4||ENST00000448492.6:c.*819A>G||1781|||||rs6005881||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||A|A||||chr22:g.28787145A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs6005881|968|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||A|A||||chr22:g.28787145A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding|4/4||NM_001284263.2:c.*819A>G||1760|||||rs6005881||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||A|A||||chr22:g.28787145A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding|4/4||NM_001284264.2:c.*819A>G||1589|||||rs6005881||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||A|A||||chr22:g.28787145A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding|5/5||NM_001284265.1:c.*819A>G||1561|||||rs6005881||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||A|A||||chr22:g.28787145A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding|5/5||NM_173510.4:c.*819A>G||1814|||||rs6005881||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||A|A||||chr22:g.28787145A>G|||||||||||||;SpliceAI=G|CCDC117|0.00|0.00|0.00|0.00|1|32|14|-21;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65424;gnomADv4_1_AC_joint_XX=33306;gnomADv4_1_AC_joint_XY=32118;gnomADv4_1_AF_grpmax_joint=0.675843;gnomADv4_1_AF_joint=0.429596;gnomADv4_1_AF_joint_XX=0.427966;gnomADv4_1_AF_joint_XY=0.431299;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152292;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16087;gnomADv4_1_nhomalt_joint_XX=8206;gnomADv4_1_nhomalt_joint_XY=7881;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28789108 chr22_28789108_TAAG_T TAAG T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=2.898;CADDIndel_Rawscore=0.264571;CSQ=-|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding|5/5||ENST00000249064.9:c.*2788_*2790del||3778-3780|||||rs35624140||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||AAG|AAG|||5|chr22:g.28789114_28789116del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding|4/4||ENST00000421503.6:c.*2788_*2790del||3574-3576|||||rs35624140||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||AAG|AAG|||5|chr22:g.28789114_28789116del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs35624140|3016|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||AAG|AAG||||chr22:g.28789114_28789116del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding|4/4||ENST00000448492.6:c.*2788_*2790del||3745-3747|||||rs35624140||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||AAG|AAG|||5|chr22:g.28789114_28789116del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs35624140|2932|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||AAG|AAG||||chr22:g.28789114_28789116del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding|4/4||NM_001284263.2:c.*2788_*2790del||3724-3726|||||rs35624140||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||AAG|AAG|||5|chr22:g.28789114_28789116del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding|4/4||NM_001284264.2:c.*2788_*2790del||3553-3555|||||rs35624140||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||AAG|AAG|||5|chr22:g.28789114_28789116del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding|5/5||NM_001284265.1:c.*2788_*2790del||3525-3527|||||rs35624140||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||AAG|AAG|||5|chr22:g.28789114_28789116del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding|5/5||NM_173510.4:c.*2788_*2790del||3778-3780|||||rs35624140||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||AAG|AAG|||5|chr22:g.28789114_28789116del|||||||||||||;SpliceAI=T|CCDC117|0.00|0.00|0.00|0.00|39|-48|-49|48;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17380;gnomADv4_1_AC_joint_XX=8828;gnomADv4_1_AC_joint_XY=8552;gnomADv4_1_AF_grpmax_joint=0.279485;gnomADv4_1_AF_joint=0.114305;gnomADv4_1_AF_joint_XX=0.113587;gnomADv4_1_AF_joint_XY=0.115054;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1141;gnomADv4_1_nhomalt_joint_XX=555;gnomADv4_1_nhomalt_joint_XY=586;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28789125 chr22_28789125_A_C A C 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=4.359;CADD_Rawscore=0.397263;CSQ=C|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding|5/5||ENST00000249064.9:c.*2799A>C||3794|||||rs1222||1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||A|A||||chr22:g.28789125A>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding|4/4||ENST00000421503.6:c.*2799A>C||3590|||||rs1222||1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||A|A||||chr22:g.28789125A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs1222|3032|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||A|A||||chr22:g.28789125A>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding|4/4||ENST00000448492.6:c.*2799A>C||3761|||||rs1222||1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||A|A||||chr22:g.28789125A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs1222|2948|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||A|A||||chr22:g.28789125A>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding|4/4||NM_001284263.2:c.*2799A>C||3740|||||rs1222||1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||A|A||||chr22:g.28789125A>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding|4/4||NM_001284264.2:c.*2799A>C||3569|||||rs1222||1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||A|A||||chr22:g.28789125A>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding|5/5||NM_001284265.1:c.*2799A>C||3541|||||rs1222||1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||A|A||||chr22:g.28789125A>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding|5/5||NM_173510.4:c.*2799A>C||3794|||||rs1222||1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||A|A||||chr22:g.28789125A>C|||||||||||||;SpliceAI=C|CCDC117|0.00|0.00|0.00|0.00|5|23|0|31;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000249064,ENST00000421503,ENST00000432510,ENST00000448492,ENST00000453543,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,150275,150275,150275,150275;VEP_SYMBOL=CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18158;gnomADv4_1_AC_joint_XX=9220;gnomADv4_1_AC_joint_XY=8938;gnomADv4_1_AF_grpmax_joint=0.278539;gnomADv4_1_AF_joint=0.119246;gnomADv4_1_AF_joint_XX=0.118527;gnomADv4_1_AF_joint_XY=0.119996;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152274;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1191;gnomADv4_1_nhomalt_joint_XX=580;gnomADv4_1_nhomalt_joint_XY=611;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28790543 chr22_28790543_T_G T G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.379;CADD_Rawscore=0.210273;CSQ=G|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs5762797|4012|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||T|T||1||chr22:g.28790543T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs5762797|1248|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||T|T||||chr22:g.28790543T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs5762797|4017|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||T|T||1||chr22:g.28790543T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs5762797|4014|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||T|T||1||chr22:g.28790543T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs5762797|4046|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||T|T||1||chr22:g.28790543T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs5762797|1242|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||T|T||||chr22:g.28790543T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs5762797|4450|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||T|T||||chr22:g.28790543T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs5762797|1242|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||T|T||||chr22:g.28790543T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs5762797|4366|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||T|T||||chr22:g.28790543T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs5762797|4016|-1||HGNC|HGNC:12801|2||||||||Ensembl||T|T||1||chr22:g.28790543T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs5762797|4017|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||T|T||||chr22:g.28790543T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs5762797|1248|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||T|T||||chr22:g.28790543T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs5762797|1248|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||T|T||||chr22:g.28790543T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs5762797|1242|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||T|T||||chr22:g.28790543T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs5762797|4017|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||T|T||||chr22:g.28790543T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs5762797|4017|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||T|T||||chr22:g.28790543T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs5762797|4017|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||T|T||||chr22:g.28790543T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs5762797|1248|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||T|T||||chr22:g.28790543T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216037,ENST00000249064,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000421503,ENST00000432510,ENST00000448492,ENST00000453543,ENST00000484256,NM_001079539.2,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_001393999.1,NM_001394000.1,NM_005080.4,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000159873,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000100219,7494,150275,150275,150275,7494,7494,7494,150275;VEP_SYMBOL=XBP1,CCDC117,XBP1,XBP1,XBP1,CCDC117,CCDC117,CCDC117,CCDC117,XBP1,XBP1,CCDC117,CCDC117,CCDC117,XBP1,XBP1,XBP1,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36750;gnomADv4_1_AC_joint_XX=18803;gnomADv4_1_AC_joint_XY=17947;gnomADv4_1_AF_grpmax_joint=0.482353;gnomADv4_1_AF_joint=0.242238;gnomADv4_1_AF_joint_XX=0.242338;gnomADv4_1_AF_joint_XY=0.242134;gnomADv4_1_AN_grpmax_joint=5100;gnomADv4_1_AN_joint=151710;gnomADv4_1_AN_joint_XX=77590;gnomADv4_1_AN_joint_XY=74120;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5030;gnomADv4_1_nhomalt_joint_XX=2577;gnomADv4_1_nhomalt_joint_XY=2453;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28790936 chr22_28790936_A_G A G 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.567;CADD_Rawscore=-0.161882;CSQ=G|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs1162373077|3619|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||A|A||1||chr22:g.28790936A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs1162373077|1641|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||A|A||||chr22:g.28790936A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs1162373077|3624|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||A|A||1||chr22:g.28790936A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs1162373077|3621|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||A|A||1||chr22:g.28790936A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs1162373077|3653|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||A|A||1||chr22:g.28790936A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs1162373077|1635|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||A|A||||chr22:g.28790936A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000432510|protein_coding||||||||||rs1162373077|4843|1|cds_end_NF|HGNC|HGNC:26599|5||ENSP00000415728||B0QYH3.84|UPI000161104D|||Ensembl||A|A||||chr22:g.28790936A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs1162373077|1635|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||A|A||||chr22:g.28790936A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000453543|nonsense_mediated_decay||||||||||rs1162373077|4759|1||HGNC|HGNC:26599|2||ENSP00000411668||F8WBN8.56|UPI000161104C|||Ensembl||A|A||||chr22:g.28790936A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs1162373077|3623|-1||HGNC|HGNC:12801|2||||||||Ensembl||A|A||1||chr22:g.28790936A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs1162373077|3624|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||A|A||||chr22:g.28790936A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs1162373077|1641|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||A|A||||chr22:g.28790936A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs1162373077|1641|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||A|A||||chr22:g.28790936A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs1162373077|1635|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||A|A||||chr22:g.28790936A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs1162373077|3624|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||A|A||||chr22:g.28790936A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs1162373077|3624|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||A|A||||chr22:g.28790936A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs1162373077|3624|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||A|A||||chr22:g.28790936A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs1162373077|1641|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||A|A||||chr22:g.28790936A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216037,ENST00000249064,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000421503,ENST00000432510,ENST00000448492,ENST00000453543,ENST00000484256,NM_001079539.2,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_001393999.1,NM_001394000.1,NM_005080.4,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000159873,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000159873,ENSG00000100219,7494,150275,150275,150275,7494,7494,7494,150275;VEP_SYMBOL=XBP1,CCDC117,XBP1,XBP1,XBP1,CCDC117,CCDC117,CCDC117,CCDC117,XBP1,XBP1,CCDC117,CCDC117,CCDC117,XBP1,XBP1,XBP1,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5;gnomADv4_1_AC_joint_XX=2;gnomADv4_1_AC_joint_XY=3;gnomADv4_1_AF_joint=3.28744e-05;gnomADv4_1_AF_joint_XX=2.57069e-05;gnomADv4_1_AF_joint_XY=4.03801e-05;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28791392 chr22_28791392_G_T G T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.606;CADD_Rawscore=-0.145185;CSQ=T|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs5762799|3163|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||G|G||1||chr22:g.28791392G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs5762799|2097|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||G|G||||chr22:g.28791392G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs5762799|3168|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||G|G||1||chr22:g.28791392G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs5762799|3165|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||G|G||1||chr22:g.28791392G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs5762799|3197|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||G|G||1||chr22:g.28791392G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs5762799|2091|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||G|G||||chr22:g.28791392G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs5762799|2091|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||G|G||||chr22:g.28791392G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs5762799|3167|-1||HGNC|HGNC:12801|2||||||||Ensembl||G|G||1||chr22:g.28791392G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs5762799|3168|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||G|G||||chr22:g.28791392G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs5762799|2097|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||G|G||||chr22:g.28791392G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs5762799|2097|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||G|G||||chr22:g.28791392G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs5762799|2091|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||G|G||||chr22:g.28791392G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs5762799|3168|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||G|G||||chr22:g.28791392G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs5762799|3168|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||G|G||||chr22:g.28791392G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs5762799|3168|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||G|G||||chr22:g.28791392G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs5762799|2097|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||G|G||||chr22:g.28791392G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216037,ENST00000249064,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000421503,ENST00000448492,ENST00000484256,NM_001079539.2,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_001393999.1,NM_001394000.1,NM_005080.4,NM_173510.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000159873,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000159873,ENSG00000159873,ENSG00000100219,7494,150275,150275,150275,7494,7494,7494,150275;VEP_SYMBOL=XBP1,CCDC117,XBP1,XBP1,XBP1,CCDC117,CCDC117,XBP1,XBP1,CCDC117,CCDC117,CCDC117,XBP1,XBP1,XBP1,CCDC117;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36785;gnomADv4_1_AC_joint_XX=18803;gnomADv4_1_AC_joint_XY=17982;gnomADv4_1_AF_grpmax_joint=0.478616;gnomADv4_1_AF_joint=0.242517;gnomADv4_1_AF_joint_XX=0.242525;gnomADv4_1_AF_joint_XY=0.242508;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=151680;gnomADv4_1_AN_joint_XX=77530;gnomADv4_1_AN_joint_XY=74150;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5042;gnomADv4_1_nhomalt_joint_XX=2581;gnomADv4_1_nhomalt_joint_XY=2461;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28792045 chr22_28792045_C_CT C CT 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADDIndel_PHREDscore=0.861;CADDIndel_Rawscore=-0.056206;CSQ=T|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs11428023|2509|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl|||||1||chr22:g.28792051dup|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs11428023|2750|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl|||||||chr22:g.28792051dup|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs11428023|2514|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl|||||1||chr22:g.28792051dup|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs11428023|2511|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl|||||1||chr22:g.28792051dup|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs11428023|2543|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl|||||1||chr22:g.28792051dup|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs11428023|2744|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl|||||||chr22:g.28792051dup|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs11428023|2744|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl|||||||chr22:g.28792051dup|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs11428023|2513|-1||HGNC|HGNC:12801|2||||||||Ensembl|||||1||chr22:g.28792051dup|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs11428023|2514|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq|||||||chr22:g.28792051dup|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs11428023|2750|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq|||||||chr22:g.28792051dup|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs11428023|2750|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq|||||||chr22:g.28792051dup|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs11428023|2744|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq|||||||chr22:g.28792051dup|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs11428023|2514|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq|||||||chr22:g.28792051dup|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs11428023|2514|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq|||||||chr22:g.28792051dup|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs11428023|2514|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq|||||||chr22:g.28792051dup|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs11428023|2750|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq|||||||chr22:g.28792051dup|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4T5R|enhancer||||||||||rs11428023|||||||||||||||||||||chr22:g.28792051dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216037,ENST00000249064,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000421503,ENST00000448492,ENST00000484256,NM_001079539.2,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_001393999.1,NM_001394000.1,NM_005080.4,NM_173510.4,ENSR22_C4T5R;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100219,ENSG00000159873,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000159873,ENSG00000159873,ENSG00000100219,7494,150275,150275,150275,7494,7494,7494,150275,.;VEP_SYMBOL=XBP1,CCDC117,XBP1,XBP1,XBP1,CCDC117,CCDC117,XBP1,XBP1,CCDC117,CCDC117,CCDC117,XBP1,XBP1,XBP1,CCDC117,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21156;gnomADv4_1_AC_joint_XX=10627;gnomADv4_1_AC_joint_XY=10529;gnomADv4_1_AF_grpmax_joint=0.224887;gnomADv4_1_AF_joint=0.14715;gnomADv4_1_AF_joint_XX=0.143503;gnomADv4_1_AF_joint_XY=0.151023;gnomADv4_1_AN_grpmax_joint=4420;gnomADv4_1_AN_joint=143772;gnomADv4_1_AN_joint_XX=74054;gnomADv4_1_AN_joint_XY=69718;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1788;gnomADv4_1_nhomalt_joint_XX=878;gnomADv4_1_nhomalt_joint_XY=910;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28792052 chr22_28792052_A_T A T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.309;CADD_Rawscore=0.052474;CSQ=T|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs5752799|2503|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||A|A||1||chr22:g.28792052A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs5752799|2757|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||A|A||||chr22:g.28792052A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs5752799|2508|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||A|A||1||chr22:g.28792052A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs5752799|2505|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||A|A||1||chr22:g.28792052A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs5752799|2537|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||A|A||1||chr22:g.28792052A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs5752799|2751|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||A|A||||chr22:g.28792052A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs5752799|2751|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||A|A||||chr22:g.28792052A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs5752799|2507|-1||HGNC|HGNC:12801|2||||||||Ensembl||A|A||1||chr22:g.28792052A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs5752799|2508|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||A|A||||chr22:g.28792052A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs5752799|2757|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||A|A||||chr22:g.28792052A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs5752799|2757|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||A|A||||chr22:g.28792052A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs5752799|2751|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||A|A||||chr22:g.28792052A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs5752799|2508|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||A|A||||chr22:g.28792052A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs5752799|2508|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||A|A||||chr22:g.28792052A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs5752799|2508|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||A|A||||chr22:g.28792052A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs5752799|2757|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||A|A||||chr22:g.28792052A>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4T5R|enhancer||||||||||rs5752799|||||||||||||||||||||chr22:g.28792052A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216037,ENST00000249064,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000421503,ENST00000448492,ENST00000484256,NM_001079539.2,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_001393999.1,NM_001394000.1,NM_005080.4,NM_173510.4,ENSR22_C4T5R;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100219,ENSG00000159873,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000159873,ENSG00000159873,ENSG00000100219,7494,150275,150275,150275,7494,7494,7494,150275,.;VEP_SYMBOL=XBP1,CCDC117,XBP1,XBP1,XBP1,CCDC117,CCDC117,XBP1,XBP1,CCDC117,CCDC117,CCDC117,XBP1,XBP1,XBP1,CCDC117,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52066;gnomADv4_1_AC_joint_XX=26452;gnomADv4_1_AC_joint_XY=25614;gnomADv4_1_AF_grpmax_joint=0.711247;gnomADv4_1_AF_joint=0.399702;gnomADv4_1_AF_joint_XX=0.395172;gnomADv4_1_AF_joint_XY=0.404491;gnomADv4_1_AN_grpmax_joint=4890;gnomADv4_1_AN_joint=130262;gnomADv4_1_AN_joint_XX=66938;gnomADv4_1_AN_joint_XY=63324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10158;gnomADv4_1_nhomalt_joint_XX=5125;gnomADv4_1_nhomalt_joint_XY=5033;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28792564 chr22_28792564_T_TA T TA 58 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADDIndel_PHREDscore=0.324;CADDIndel_Rawscore=-0.30219;CSQ=A|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs11387433|1990|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl|||||1||chr22:g.28792565dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs11387433|3269|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl|||||||chr22:g.28792565dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs11387433|1995|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl|||||1||chr22:g.28792565dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs11387433|1992|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl|||||1||chr22:g.28792565dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs11387433|2024|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl|||||1||chr22:g.28792565dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs11387433|3263|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl|||||||chr22:g.28792565dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs11387433|3263|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl|||||||chr22:g.28792565dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs11387433|1994|-1||HGNC|HGNC:12801|2||||||||Ensembl|||||1||chr22:g.28792565dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs11387433|1995|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq|||||||chr22:g.28792565dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs11387433|3269|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq|||||||chr22:g.28792565dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs11387433|3269|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq|||||||chr22:g.28792565dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs11387433|3263|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq|||||||chr22:g.28792565dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs11387433|1995|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq|||||||chr22:g.28792565dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs11387433|1995|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq|||||||chr22:g.28792565dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs11387433|1995|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq|||||||chr22:g.28792565dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs11387433|3269|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq|||||||chr22:g.28792565dup|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4T5R|enhancer||||||||||rs11387433|||||||||||||||||||||chr22:g.28792565dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216037,ENST00000249064,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000421503,ENST00000448492,ENST00000484256,NM_001079539.2,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_001393999.1,NM_001394000.1,NM_005080.4,NM_173510.4,ENSR22_C4T5R;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100219,ENSG00000159873,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000159873,ENSG00000159873,ENSG00000100219,7494,150275,150275,150275,7494,7494,7494,150275,.;VEP_SYMBOL=XBP1,CCDC117,XBP1,XBP1,XBP1,CCDC117,CCDC117,XBP1,XBP1,CCDC117,CCDC117,CCDC117,XBP1,XBP1,XBP1,CCDC117,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60194;gnomADv4_1_AC_joint_XX=30541;gnomADv4_1_AC_joint_XY=29653;gnomADv4_1_AF_grpmax_joint=0.677451;gnomADv4_1_AF_joint=0.396582;gnomADv4_1_AF_joint_XX=0.393377;gnomADv4_1_AF_joint_XY=0.399938;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151782;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=74144;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13191;gnomADv4_1_nhomalt_joint_XX=6647;gnomADv4_1_nhomalt_joint_XY=6544;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28792988 chr22_28792988_AT_A AT A 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.576;CADDIndel_Rawscore=-0.157648;CSQ=-|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs11298414|1566|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||T|T||1||chr22:g.28792999del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs11298414|3694|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||T|T||||chr22:g.28792999del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs11298414|1571|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||T|T||1||chr22:g.28792999del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs11298414|1568|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||T|T||1||chr22:g.28792999del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs11298414|1600|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||T|T||1||chr22:g.28792999del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs11298414|3688|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||T|T||||chr22:g.28792999del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs11298414|3688|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||T|T||||chr22:g.28792999del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs11298414|1570|-1||HGNC|HGNC:12801|2||||||||Ensembl||T|T||1||chr22:g.28792999del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs11298414|1571|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||T|T||||chr22:g.28792999del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs11298414|3694|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||T|T||||chr22:g.28792999del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs11298414|3694|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||T|T||||chr22:g.28792999del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs11298414|3688|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||T|T||||chr22:g.28792999del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs11298414|1571|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||T|T||||chr22:g.28792999del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs11298414|1571|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||T|T||||chr22:g.28792999del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs11298414|1571|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||T|T||||chr22:g.28792999del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs11298414|3694|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||T|T||||chr22:g.28792999del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4T5R|enhancer||||||||||rs11298414|||||||||||||||||||||chr22:g.28792999del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216037,ENST00000249064,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000421503,ENST00000448492,ENST00000484256,NM_001079539.2,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_001393999.1,NM_001394000.1,NM_005080.4,NM_173510.4,ENSR22_C4T5R;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100219,ENSG00000159873,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000159873,ENSG00000159873,ENSG00000100219,7494,150275,150275,150275,7494,7494,7494,150275,.;VEP_SYMBOL=XBP1,CCDC117,XBP1,XBP1,XBP1,CCDC117,CCDC117,XBP1,XBP1,CCDC117,CCDC117,CCDC117,XBP1,XBP1,XBP1,CCDC117,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64359;gnomADv4_1_AC_joint_XX=32814;gnomADv4_1_AC_joint_XY=31545;gnomADv4_1_AF_grpmax_joint=0.680463;gnomADv4_1_AF_joint=0.434359;gnomADv4_1_AF_joint_XX=0.431763;gnomADv4_1_AF_joint_XY=0.437093;gnomADv4_1_AN_grpmax_joint=5098;gnomADv4_1_AN_joint=148170;gnomADv4_1_AN_joint_XX=76000;gnomADv4_1_AN_joint_XY=72170;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15688;gnomADv4_1_nhomalt_joint_XX=8014;gnomADv4_1_nhomalt_joint_XY=7674;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28793623 chr22_28793627_T_A;chr22_28793623_ATTTT_A ATTTT A 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=25;CADDIndel_PHREDscore=0.9;CADDIndel_Rawscore=-0.044899;CSQ=-|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs34144272|928|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||TTTT|TTTT||1||chr22:g.28793626_28793629del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs34144272|4329|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||TTTT|TTTT||||chr22:g.28793626_28793629del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs34144272|933|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||TTTT|TTTT||1||chr22:g.28793626_28793629del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs34144272|930|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||TTTT|TTTT||1||chr22:g.28793626_28793629del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs34144272|962|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||TTTT|TTTT||1||chr22:g.28793626_28793629del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs34144272|4323|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||TTTT|TTTT||||chr22:g.28793626_28793629del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs34144272|4323|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||TTTT|TTTT||||chr22:g.28793626_28793629del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs34144272|932|-1||HGNC|HGNC:12801|2||||||||Ensembl||TTTT|TTTT||1||chr22:g.28793626_28793629del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs34144272|933|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||TTTT|TTTT||||chr22:g.28793626_28793629del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs34144272|4329|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||TTTT|TTTT||||chr22:g.28793626_28793629del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs34144272|4329|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||TTTT|TTTT||||chr22:g.28793626_28793629del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs34144272|4323|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||TTTT|TTTT||||chr22:g.28793626_28793629del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs34144272|933|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||TTTT|TTTT||||chr22:g.28793626_28793629del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs34144272|933|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||TTTT|TTTT||||chr22:g.28793626_28793629del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs34144272|933|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||TTTT|TTTT||||chr22:g.28793626_28793629del|||||||||||||,-|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs34144272|4329|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||TTTT|TTTT||||chr22:g.28793626_28793629del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FFKJ|enhancer||||||||||rs34144272|||||||||||||||||||||chr22:g.28793626_28793629del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216037,ENST00000249064,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000421503,ENST00000448492,ENST00000484256,NM_001079539.2,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_001393999.1,NM_001394000.1,NM_005080.4,NM_173510.4,ENSR22_9FFKJ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100219,ENSG00000159873,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000159873,ENSG00000159873,ENSG00000100219,7494,150275,150275,150275,7494,7494,7494,150275,.;VEP_SYMBOL=XBP1,CCDC117,XBP1,XBP1,XBP1,CCDC117,CCDC117,XBP1,XBP1,CCDC117,CCDC117,CCDC117,XBP1,XBP1,XBP1,CCDC117,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13991;gnomADv4_1_AC_joint_XX=7076;gnomADv4_1_AC_joint_XY=6915;gnomADv4_1_AF_grpmax_joint=0.269595;gnomADv4_1_AF_joint=0.101002;gnomADv4_1_AF_joint_XX=0.0997041;gnomADv4_1_AF_joint_XY=0.102366;gnomADv4_1_AN_grpmax_joint=4644;gnomADv4_1_AN_joint=138522;gnomADv4_1_AN_joint_XX=70970;gnomADv4_1_AN_joint_XY=67552;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=904;gnomADv4_1_nhomalt_joint_XX=430;gnomADv4_1_nhomalt_joint_XY=474;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28793627 chr22_28793627_T_A;chr22_28793623_ATTTT_A T A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=4.418;CADD_Rawscore=0.402513;CSQ=A|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs5762800|928|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||T|T||1||chr22:g.28793627T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000249064|protein_coding||||||||||rs5762800|4332|1||HGNC|HGNC:26599|1|CCDS13846.1|ENSP00000249064|Q8IWD4.146||UPI000007450B|Q8IWD4-1||Ensembl||T|T||||chr22:g.28793627T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs5762800|933|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||T|T||1||chr22:g.28793627T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs5762800|930|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||T|T||1||chr22:g.28793627T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs5762800|962|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||T|T||1||chr22:g.28793627T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000421503|protein_coding||||||||||rs5762800|4326|1||HGNC|HGNC:26599|2|CCDS63435.1|ENSP00000387827|Q8IWD4.146||UPI0001914C0C|Q8IWD4-4||Ensembl||T|T||||chr22:g.28793627T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|ENSG00000159873|Transcript|ENST00000448492|protein_coding||||||||||rs5762800|4326|1||HGNC|HGNC:26599|2|CCDS63436.1|ENSP00000389478|Q8IWD4.146||UPI0001915188|Q8IWD4-3||Ensembl||T|T||||chr22:g.28793627T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs5762800|932|-1||HGNC|HGNC:12801|2||||||||Ensembl||T|T||1||chr22:g.28793627T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs5762800|933|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||T|T||||chr22:g.28793627T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284263.2|protein_coding||||||||||rs5762800|4332|1||EntrezGene|HGNC:26599|||NP_001271192.1||||||RefSeq||T|T||||chr22:g.28793627T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284264.2|protein_coding||||||||||rs5762800|4332|1||EntrezGene|HGNC:26599|||NP_001271193.1||||||RefSeq||T|T||||chr22:g.28793627T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_001284265.1|protein_coding||||||||||rs5762800|4326|1||EntrezGene|HGNC:26599|||NP_001271194.1||||||RefSeq||T|T||||chr22:g.28793627T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs5762800|933|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||T|T||||chr22:g.28793627T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs5762800|933|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||T|T||||chr22:g.28793627T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs5762800|933|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||T|T||||chr22:g.28793627T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CCDC117|150275|Transcript|NM_173510.4|protein_coding||||||||||rs5762800|4332|1||EntrezGene|HGNC:26599|||NP_775781.1||||||RefSeq||T|T||||chr22:g.28793627T>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FFKJ|enhancer||||||||||rs5762800|||||||||||||||||||||chr22:g.28793627T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216037,ENST00000249064,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000421503,ENST00000448492,ENST00000484256,NM_001079539.2,NM_001284263.2,NM_001284264.2,NM_001284265.1,NM_001393999.1,NM_001394000.1,NM_005080.4,NM_173510.4,ENSR22_9FFKJ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100219,ENSG00000159873,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000159873,ENSG00000159873,ENSG00000100219,7494,150275,150275,150275,7494,7494,7494,150275,.;VEP_SYMBOL=XBP1,CCDC117,XBP1,XBP1,XBP1,CCDC117,CCDC117,XBP1,XBP1,CCDC117,CCDC117,CCDC117,XBP1,XBP1,XBP1,CCDC117,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1332;gnomADv4_1_AC_joint_XX=697;gnomADv4_1_AC_joint_XY=635;gnomADv4_1_AF_grpmax_joint=0.0825243;gnomADv4_1_AF_joint=0.0113025;gnomADv4_1_AF_joint_XX=0.0115573;gnomADv4_1_AF_joint_XY=0.0110354;gnomADv4_1_AN_grpmax_joint=206;gnomADv4_1_AN_joint=117850;gnomADv4_1_AN_joint_XX=60308;gnomADv4_1_AN_joint_XY=57542;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=13;gnomADv4_1_nhomalt_joint_XX=8;gnomADv4_1_nhomalt_joint_XY=5;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28794483 chr22_28794483_T_C T C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.466;CADD_Rawscore=0.082095;CSQ=C|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs2267131|72|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||T|T||1||chr22:g.28794483T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs2267131|77|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||T|T||1||chr22:g.28794483T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs2267131|74|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||T|T||1||chr22:g.28794483T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs2267131|106|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||T|T||1||chr22:g.28794483T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs2267131|4423|-1||HGNC|HGNC:12801|2||||||||Ensembl||T|T||1||chr22:g.28794483T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs2267131|76|-1||HGNC|HGNC:12801|2||||||||Ensembl||T|T||1||chr22:g.28794483T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs2267131|77|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||T|T||||chr22:g.28794483T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs2267131|77|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||T|T||||chr22:g.28794483T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs2267131|77|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||T|T||||chr22:g.28794483T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs2267131|77|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||T|T||||chr22:g.28794483T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000482720,ENST00000484256,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,7494,7494,7494,7494;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,XBP1,XBP1,XBP1,XBP1,XBP1,XBP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17504;gnomADv4_1_AC_joint_XX=8888;gnomADv4_1_AC_joint_XY=8616;gnomADv4_1_AF_grpmax_joint=0.280356;gnomADv4_1_AF_joint=0.114841;gnomADv4_1_AF_joint_XX=0.114121;gnomADv4_1_AF_joint_XY=0.115592;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152420;gnomADv4_1_AN_joint_XX=77882;gnomADv4_1_AN_joint_XY=74538;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1183;gnomADv4_1_nhomalt_joint_XX=577;gnomADv4_1_nhomalt_joint_XY=606;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28794807 chr22_28794807_G_A G A 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=4.93;CADD_Rawscore=0.449329;CSQ=A|3_prime_UTR_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding|5/5||ENST00000216037.10:c.*739C>T||1598|||||rs113558206||-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||G|G||1||chr22:g.28794807G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding|6/6||ENST00000344347.6:c.*368C>T||1544|||||rs113558206||-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||G|G||1||chr22:g.28794807G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding|5/5||ENST00000403532.7:c.*739C>T||1574|||||rs113558206||-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||G|G||1||chr22:g.28794807G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding|5/5||ENST00000405219.7:c.*739C>T||1472|||||rs113558206||-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||G|G||1||chr22:g.28794807G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs113558206|4099|-1||HGNC|HGNC:12801|2||||||||Ensembl||G|G||1||chr22:g.28794807G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron|2/2||ENST00000484256.1:n.1925C>T||1925|||||rs113558206||-1||HGNC|HGNC:12801|2||||||||Ensembl||G|G||1||chr22:g.28794807G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding|6/6||NM_001079539.2:c.*368C>T||1544|||||rs113558206||-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||G|G||||chr22:g.28794807G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding|6/6||NM_001393999.1:c.*368C>T||1390|||||rs113558206||-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||G|G||||chr22:g.28794807G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding|5/5||NM_001394000.1:c.*739C>T||1416|||||rs113558206||-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||G|G||||chr22:g.28794807G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding|5/5||NM_005080.4:c.*739C>T||1570|||||rs113558206||-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||G|G||||chr22:g.28794807G>A|||||||||||||;SpliceAI=A|XBP1|0.00|0.00|0.00|0.00|1|-37|-14|-36;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000482720,ENST00000484256,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,7494,7494,7494,7494;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,XBP1,XBP1,XBP1,XBP1,XBP1,XBP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5;gnomADv4_1_AC_joint_XX=5;gnomADv4_1_AC_joint_XY=0;gnomADv4_1_AF_grpmax_joint=2.38652e-05;gnomADv4_1_AF_joint=3.06395e-05;gnomADv4_1_AF_joint_XX=6.00947e-05;gnomADv4_1_AF_joint_XY=0.0;gnomADv4_1_AN_grpmax_joint=41902;gnomADv4_1_AN_joint=163188;gnomADv4_1_AN_joint_XX=83202;gnomADv4_1_AN_joint_XY=79986;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28795891 chr22_28795891_T_C T C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.275;CADD_Rawscore=0.045445;CSQ=C|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||4/4|ENST00000216037.10:c.599+156A>G|||||||rs2097461||-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||T|T||1||chr22:g.28795891T>C|||||||||||||,C|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||5/5|ENST00000344347.6:c.573+156A>G|||||||rs2097461||-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||T|T||1||chr22:g.28795891T>C|||||||||||||,C|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||4/4|ENST00000403532.7:c.614+156A>G|||||||rs2097461||-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||T|T||1||chr22:g.28795891T>C|||||||||||||,C|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||4/4|ENST00000405219.7:c.449+156A>G|||||||rs2097461||-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||T|T||1||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs2097461|4813|1||||3||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs2097461|4792|1||||3||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs2097461|3015|-1||HGNC|HGNC:12801|2||||||||Ensembl||T|T||1||chr22:g.28795891T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||1/1|ENST00000484256.1:n.999+156A>G|||||||rs2097461||-1||HGNC|HGNC:12801|2||||||||Ensembl||T|T||1||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA||||||||||rs2097461|4789|1||||||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||||||||||rs2097461|4787|1||||||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs2097461|4764|1||||||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs2097461|4789|1||||||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs2097461|4790|1||||||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs2097461|4793|1||||||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs2097461|4797|1||||||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs2097461|4797|1||||||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs2097461|4780|1||||||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs2097461|4792|1||||||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||||||||||rs2097461|4792|1||||||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs2097461|4788|1||||||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs2097461|4789|1||||||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs2097461|4797|1||||||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs2097461|4797|1||||||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs2097461|4798|1||||||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs2097461|4782|1||||||||||||Ensembl||T|T||||chr22:g.28795891T>C|||||||||||||,C|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||5/5|NM_001079539.2:c.573+156A>G|||||||rs2097461||-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||T|T||||chr22:g.28795891T>C|||||||||||||,C|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||5/5|NM_001393999.1:c.423+156A>G|||||||rs2097461||-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||T|T||||chr22:g.28795891T>C|||||||||||||,C|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||4/4|NM_001394000.1:c.449+156A>G|||||||rs2097461||-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||T|T||||chr22:g.28795891T>C|||||||||||||,C|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||4/4|NM_005080.4:c.599+156A>G|||||||rs2097461||-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||T|T||||chr22:g.28795891T>C|||||||||||||;SpliceAI=C|XBP1|0.00|0.00|0.00|0.00|0|15|-31|10;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000418292,ENST00000458080,ENST00000482720,ENST00000484256,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494,7494,7494;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,.,.,XBP1,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1,XBP1,XBP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60339;gnomADv4_1_AC_joint_XX=30602;gnomADv4_1_AC_joint_XY=29737;gnomADv4_1_AF_grpmax_joint=0.665765;gnomADv4_1_AF_joint=0.396951;gnomADv4_1_AF_joint_XX=0.393787;gnomADv4_1_AF_joint_XY=0.400261;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13236;gnomADv4_1_nhomalt_joint_XX=6669;gnomADv4_1_nhomalt_joint_XY=6567;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28796682 chr22_28796682_T_C T C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.34;CADD_Rawscore=0.306194;CSQ=C|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||3/4|ENST00000216037.10:c.453+395A>G|||||||rs2239815||-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||T|T||1||chr22:g.28796682T>C|||1||||||||||,C|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||3/5|ENST00000344347.6:c.453+395A>G|||||||rs2239815||-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||T|T||1||chr22:g.28796682T>C|||1||||||||||,C|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||3/4|ENST00000403532.7:c.468+395A>G|||||||rs2239815||-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||T|T||1||chr22:g.28796682T>C|||1||||||||||,C|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||3/4|ENST00000405219.7:c.303+395A>G|||||||rs2239815||-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||T|T||1||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs2239815|4022|1||||3||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs2239815|4001|1||||3||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs2239815|2224|-1||HGNC|HGNC:12801|2||||||||Ensembl||T|T||1||chr22:g.28796682T>C|||1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron|1/2||ENST00000484256.1:n.364A>G||364|||||rs2239815||-1||HGNC|HGNC:12801|2||||||||Ensembl||T|T||1||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA||||||||||rs2239815|3998|1||||||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||||||||||rs2239815|3996|1||||||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs2239815|3973|1||||||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs2239815|3998|1||||||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs2239815|3999|1||||||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs2239815|4002|1||||||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs2239815|4006|1||||||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs2239815|4006|1||||||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs2239815|3989|1||||||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs2239815|4001|1||||||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||||||||||rs2239815|4001|1||||||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs2239815|3997|1||||||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs2239815|3998|1||||||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs2239815|4006|1||||||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs2239815|4006|1||||||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs2239815|4007|1||||||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs2239815|3991|1||||||||||||Ensembl||T|T||||chr22:g.28796682T>C|||1||||||||||,C|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||3/5|NM_001079539.2:c.453+395A>G|||||||rs2239815||-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||T|T||||chr22:g.28796682T>C|||1||||||||||,C|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||3/5|NM_001393999.1:c.303+395A>G|||||||rs2239815||-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||T|T||||chr22:g.28796682T>C|||1||||||||||,C|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||3/4|NM_001394000.1:c.303+395A>G|||||||rs2239815||-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||T|T||||chr22:g.28796682T>C|||1||||||||||,C|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||3/4|NM_005080.4:c.453+395A>G|||||||rs2239815||-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||T|T||||chr22:g.28796682T>C|||1||||||||||;SpliceAI=C|XBP1|0.00|0.00|0.00|0.00|-41|-47|-17|46;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000418292,ENST00000458080,ENST00000482720,ENST00000484256,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494,7494,7494;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,.,.,XBP1,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1,XBP1,XBP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73653;gnomADv4_1_AC_joint_XX=37310;gnomADv4_1_AC_joint_XY=36343;gnomADv4_1_AF_grpmax_joint=0.690735;gnomADv4_1_AF_joint=0.424596;gnomADv4_1_AF_joint_XX=0.423208;gnomADv4_1_AF_joint_XY=0.426031;gnomADv4_1_AN_grpmax_joint=41812;gnomADv4_1_AN_joint=173466;gnomADv4_1_AN_joint_XX=88160;gnomADv4_1_AN_joint_XY=85306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18353;gnomADv4_1_nhomalt_joint_XX=9293;gnomADv4_1_nhomalt_joint_XY=9060;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28797650 chr22_28797650_G_C G C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.105;CADD_Rawscore=-0.598892;CSQ=C|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||2/4|ENST00000216037.10:c.325-445C>G|||||||rs5762803||-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||G|G||1||chr22:g.28797650G>C|||||||||||||,C|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||2/5|ENST00000344347.6:c.325-445C>G|||||||rs5762803||-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||G|G||1||chr22:g.28797650G>C|||||||||||||,C|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||2/4|ENST00000403532.7:c.340-445C>G|||||||rs5762803||-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||G|G||1||chr22:g.28797650G>C|||||||||||||,C|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||2/4|ENST00000405219.7:c.175-445C>G|||||||rs5762803||-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||G|G||1||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs5762803|3054|1||||3||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs5762803|4242|1||||5||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs5762803|3033|1||||3||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs5762803|1256|-1||HGNC|HGNC:12801|2||||||||Ensembl||G|G||1||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs5762803|605|-1||HGNC|HGNC:12801|2||||||||Ensembl||G|G||1||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA||||||||||rs5762803|3030|1||||||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||||||||||rs5762803|3028|1||||||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs5762803|3005|1||||||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs5762803|3030|1||||||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs5762803|3031|1||||||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs5762803|3034|1||||||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs5762803|3038|1||||||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs5762803|3038|1||||||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs5762803|3021|1||||||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs5762803|3033|1||||||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||||||||||rs5762803|3033|1||||||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs5762803|3029|1||||||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs5762803|3030|1||||||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs5762803|3038|1||||||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs5762803|3038|1||||||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs5762803|3039|1||||||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs5762803|3023|1||||||||||||Ensembl||G|G||||chr22:g.28797650G>C|||||||||||||,C|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||2/5|NM_001079539.2:c.325-445C>G|||||||rs5762803||-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||G|G||||chr22:g.28797650G>C|||||||||||||,C|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||2/5|NM_001393999.1:c.175-445C>G|||||||rs5762803||-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||G|G||||chr22:g.28797650G>C|||||||||||||,C|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||2/4|NM_001394000.1:c.175-445C>G|||||||rs5762803||-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||G|G||||chr22:g.28797650G>C|||||||||||||,C|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||2/4|NM_005080.4:c.325-445C>G|||||||rs5762803||-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||G|G||||chr22:g.28797650G>C|||||||||||||;SpliceAI=C|XBP1|0.00|0.00|0.00|0.00|30|-5|-44|-5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000418292,ENST00000451486,ENST00000458080,ENST00000482720,ENST00000484256,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494,7494,7494;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,.,.,.,XBP1,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1,XBP1,XBP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54671;gnomADv4_1_AC_joint_XX=27695;gnomADv4_1_AC_joint_XY=26976;gnomADv4_1_AF_grpmax_joint=0.677795;gnomADv4_1_AF_joint=0.360508;gnomADv4_1_AF_joint_XX=0.357143;gnomADv4_1_AF_joint_XY=0.364029;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151650;gnomADv4_1_AN_joint_XX=77546;gnomADv4_1_AN_joint_XY=74104;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11611;gnomADv4_1_nhomalt_joint_XX=5835;gnomADv4_1_nhomalt_joint_XY=5776;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28798302 chr22_28798302_C_CTTTTTTTTTTT C CTTTTTTTTTTT 29 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=29;CADDIndel_PHREDscore=0.603;CADDIndel_Rawscore=-0.146482;CSQ=TTTTTTTTTTT|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||2/4|ENST00000216037.10:c.324+744_324+754dup|||||||rs71316865||-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl|||||1||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||2/5|ENST00000344347.6:c.324+744_324+754dup|||||||rs71316865||-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl|||||1||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||2/4|ENST00000403532.7:c.339+729_339+739dup|||||||rs71316865||-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl|||||1||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||2/4|ENST00000405219.7:c.174+744_174+754dup|||||||rs71316865||-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl|||||1||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs71316865|2401|1||||3||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs71316865|3589|1||||5||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs71316865|2380|1||||3||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs71316865|603|-1||HGNC|HGNC:12801|2||||||||Ensembl|||||1||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs71316865|1257|-1||HGNC|HGNC:12801|2||||||||Ensembl|||||1||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA||||||||||rs71316865|2377|1||||||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||||||||||rs71316865|2375|1||||||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs71316865|2352|1||||||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs71316865|2377|1||||||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs71316865|2378|1||||||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs71316865|2381|1||||||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs71316865|2385|1||||||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs71316865|2385|1||||||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs71316865|2368|1||||||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs71316865|2380|1||||||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||||||||||rs71316865|2380|1||||||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs71316865|2376|1||||||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs71316865|2377|1||||||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs71316865|2385|1||||||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs71316865|2385|1||||||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs71316865|2386|1||||||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs71316865|2370|1||||||||||||Ensembl|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||2/5|NM_001079539.2:c.324+744_324+754dup|||||||rs71316865||-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||2/5|NM_001393999.1:c.174+744_174+754dup|||||||rs71316865||-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||2/4|NM_001394000.1:c.174+744_174+754dup|||||||rs71316865||-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq|||||||chr22:g.28798307_28798317dup|||||||||||||,TTTTTTTTTTT|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||2/4|NM_005080.4:c.324+744_324+754dup|||||||rs71316865||-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq|||||||chr22:g.28798307_28798317dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000418292,ENST00000451486,ENST00000458080,ENST00000482720,ENST00000484256,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494,7494,7494;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,.,.,.,XBP1,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1,XBP1,XBP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10164;gnomADv4_1_AC_joint_XX=5590;gnomADv4_1_AC_joint_XY=4574;gnomADv4_1_AF_grpmax_joint=0.21875;gnomADv4_1_AF_joint=0.0834305;gnomADv4_1_AF_joint_XX=0.0872129;gnomADv4_1_AF_joint_XY=0.0792309;gnomADv4_1_AN_grpmax_joint=3328;gnomADv4_1_AN_joint=121826;gnomADv4_1_AN_joint_XX=64096;gnomADv4_1_AN_joint_XY=57730;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=760;gnomADv4_1_nhomalt_joint_XX=394;gnomADv4_1_nhomalt_joint_XY=366;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28798611 chr22_28798611_CT_C CT C 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.567;CADDIndel_Rawscore=-0.161851;CSQ=-|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||2/4|ENST00000216037.10:c.324+445del|||||||rs35567823||-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||T|T||1||chr22:g.28798624del|||||||||||||,-|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||2/5|ENST00000344347.6:c.324+445del|||||||rs35567823||-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||T|T||1||chr22:g.28798624del|||||||||||||,-|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||2/4|ENST00000403532.7:c.339+430del|||||||rs35567823||-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||T|T||1||chr22:g.28798624del|||||||||||||,-|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||2/4|ENST00000405219.7:c.174+445del|||||||rs35567823||-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||T|T||1||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs35567823|2092|1||||3||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs35567823|3280|1||||5||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs35567823|2071|1||||3||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs35567823|294|-1||HGNC|HGNC:12801|2||||||||Ensembl||T|T||1||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs35567823|1567|-1||HGNC|HGNC:12801|2||||||||Ensembl||T|T||1||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA||||||||||rs35567823|2068|1||||||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||||||||||rs35567823|2066|1||||||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs35567823|2043|1||||||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs35567823|2068|1||||||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs35567823|2069|1||||||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs35567823|2072|1||||||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs35567823|2076|1||||||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs35567823|2076|1||||||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs35567823|2059|1||||||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs35567823|2071|1||||||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||||||||||rs35567823|2071|1||||||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs35567823|2067|1||||||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs35567823|2068|1||||||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs35567823|2076|1||||||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs35567823|2076|1||||||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs35567823|2077|1||||||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs35567823|2061|1||||||||||||Ensembl||T|T||||chr22:g.28798624del|||||||||||||,-|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||2/5|NM_001079539.2:c.324+445del|||||||rs35567823||-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||T|T||||chr22:g.28798624del|||||||||||||,-|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||2/5|NM_001393999.1:c.174+445del|||||||rs35567823||-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||T|T||||chr22:g.28798624del|||||||||||||,-|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||2/4|NM_001394000.1:c.174+445del|||||||rs35567823||-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||T|T||||chr22:g.28798624del|||||||||||||,-|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||2/4|NM_005080.4:c.324+445del|||||||rs35567823||-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||T|T||||chr22:g.28798624del|||||||||||||;SpliceAI=C|XBP1|0.00|0.00|0.00|0.00|44|49|2|32;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000418292,ENST00000451486,ENST00000458080,ENST00000482720,ENST00000484256,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494,7494,7494;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,.,.,.,XBP1,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1,XBP1,XBP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61919;gnomADv4_1_AC_joint_XX=31934;gnomADv4_1_AC_joint_XY=29985;gnomADv4_1_AF_grpmax_joint=0.68849;gnomADv4_1_AF_joint=0.439086;gnomADv4_1_AF_joint_XX=0.439052;gnomADv4_1_AF_joint_XY=0.439122;gnomADv4_1_AN_grpmax_joint=37986;gnomADv4_1_AN_joint=141018;gnomADv4_1_AN_joint_XX=72734;gnomADv4_1_AN_joint_XY=68284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=15364;gnomADv4_1_nhomalt_joint_XX=7940;gnomADv4_1_nhomalt_joint_XY=7424;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28798768 chr22_28798768_C_CTT C CTT 32 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=32;CADDIndel_PHREDscore=0.722;CADDIndel_Rawscore=-0.101271;CSQ=TT|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||2/4|ENST00000216037.10:c.324+287_324+288dup|||||||rs71196604||-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl|||||1||chr22:g.28798787_28798788dup|||||||||||||,TT|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||2/5|ENST00000344347.6:c.324+287_324+288dup|||||||rs71196604||-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl|||||1||chr22:g.28798787_28798788dup|||||||||||||,TT|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||2/4|ENST00000403532.7:c.339+272_339+273dup|||||||rs71196604||-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl|||||1||chr22:g.28798787_28798788dup|||||||||||||,TT|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||2/4|ENST00000405219.7:c.174+287_174+288dup|||||||rs71196604||-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl|||||1||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs71196604|1935|1||||3||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs71196604|3123|1||||5||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs71196604|1914|1||||3||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs71196604|137|-1||HGNC|HGNC:12801|2||||||||Ensembl|||||1||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs71196604|1723|-1||HGNC|HGNC:12801|2||||||||Ensembl|||||1||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA||||||||||rs71196604|1911|1||||||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||||||||||rs71196604|1909|1||||||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs71196604|1886|1||||||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs71196604|1911|1||||||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs71196604|1912|1||||||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs71196604|1915|1||||||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs71196604|1919|1||||||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs71196604|1919|1||||||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs71196604|1902|1||||||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs71196604|1914|1||||||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||||||||||rs71196604|1914|1||||||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs71196604|1910|1||||||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs71196604|1911|1||||||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs71196604|1919|1||||||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs71196604|1919|1||||||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs71196604|1920|1||||||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs71196604|1904|1||||||||||||Ensembl|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||2/5|NM_001079539.2:c.324+287_324+288dup|||||||rs71196604||-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||2/5|NM_001393999.1:c.174+287_174+288dup|||||||rs71196604||-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||2/4|NM_001394000.1:c.174+287_174+288dup|||||||rs71196604||-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq|||||||chr22:g.28798787_28798788dup|||||||||||||,TT|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||2/4|NM_005080.4:c.324+287_324+288dup|||||||rs71196604||-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq|||||||chr22:g.28798787_28798788dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000418292,ENST00000451486,ENST00000458080,ENST00000482720,ENST00000484256,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494,7494,7494;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,.,.,.,XBP1,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1,XBP1,XBP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12846;gnomADv4_1_AC_joint_XX=7315;gnomADv4_1_AC_joint_XY=5531;gnomADv4_1_AF_grpmax_joint=0.144704;gnomADv4_1_AF_joint=0.102748;gnomADv4_1_AF_joint_XX=0.112104;gnomADv4_1_AF_joint_XY=0.092535;gnomADv4_1_AN_grpmax_joint=62424;gnomADv4_1_AN_joint=125024;gnomADv4_1_AN_joint_XX=65252;gnomADv4_1_AN_joint_XY=59772;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1065;gnomADv4_1_nhomalt_joint_XX=604;gnomADv4_1_nhomalt_joint_XY=461;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28798801 chr22_28798801_G_GGT G GGT 35 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.66;CADDIndel_Rawscore=-0.12356;CSQ=GT|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||2/4|ENST00000216037.10:c.324+254_324+255dup|||||||rs71316866||-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl|||||1||chr22:g.28798802_28798803dup|||||||||||||,GT|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||2/5|ENST00000344347.6:c.324+254_324+255dup|||||||rs71316866||-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl|||||1||chr22:g.28798802_28798803dup|||||||||||||,GT|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||2/4|ENST00000403532.7:c.339+239_339+240dup|||||||rs71316866||-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl|||||1||chr22:g.28798802_28798803dup|||||||||||||,GT|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||2/4|ENST00000405219.7:c.174+254_174+255dup|||||||rs71316866||-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl|||||1||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs71316866|1902|1||||3||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs71316866|3090|1||||5||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs71316866|1881|1||||3||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs71316866|104|-1||HGNC|HGNC:12801|2||||||||Ensembl|||||1||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs71316866|1756|-1||HGNC|HGNC:12801|2||||||||Ensembl|||||1||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA||||||||||rs71316866|1878|1||||||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||||||||||rs71316866|1876|1||||||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs71316866|1853|1||||||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs71316866|1878|1||||||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs71316866|1879|1||||||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs71316866|1882|1||||||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs71316866|1886|1||||||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs71316866|1886|1||||||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs71316866|1869|1||||||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs71316866|1881|1||||||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||||||||||rs71316866|1881|1||||||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs71316866|1877|1||||||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs71316866|1878|1||||||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs71316866|1886|1||||||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs71316866|1886|1||||||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs71316866|1887|1||||||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs71316866|1871|1||||||||||||Ensembl|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||2/5|NM_001079539.2:c.324+254_324+255dup|||||||rs71316866||-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||2/5|NM_001393999.1:c.174+254_174+255dup|||||||rs71316866||-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||2/4|NM_001394000.1:c.174+254_174+255dup|||||||rs71316866||-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq|||||||chr22:g.28798802_28798803dup|||||||||||||,GT|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||2/4|NM_005080.4:c.324+254_324+255dup|||||||rs71316866||-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq|||||||chr22:g.28798802_28798803dup|||||||||||||;TYPE=INDEL;VEP_Allele=GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000418292,ENST00000451486,ENST00000458080,ENST00000482720,ENST00000484256,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494,7494,7494;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,.,.,.,XBP1,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1,XBP1,XBP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15058;gnomADv4_1_AC_joint_XX=7962;gnomADv4_1_AC_joint_XY=7096;gnomADv4_1_AF_grpmax_joint=0.206426;gnomADv4_1_AF_joint=0.0741036;gnomADv4_1_AF_joint_XX=0.0771856;gnomADv4_1_AF_joint_XY=0.070926;gnomADv4_1_AN_grpmax_joint=4980;gnomADv4_1_AN_joint=203202;gnomADv4_1_AN_joint_XX=103154;gnomADv4_1_AN_joint_XY=100048;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1020;gnomADv4_1_nhomalt_joint_XX=518;gnomADv4_1_nhomalt_joint_XY=502;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28798807 chr22_28798807_GAC_G GAC G 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=1.806;CADDIndel_Rawscore=0.136906;CSQ=-|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||2/4|ENST00000216037.10:c.324+248_324+249del|||||||rs201612534||-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||AC|AC||1||chr22:g.28798808_28798809del|||||||||||||,-|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||2/5|ENST00000344347.6:c.324+248_324+249del|||||||rs201612534||-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||AC|AC||1||chr22:g.28798808_28798809del|||||||||||||,-|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||2/4|ENST00000403532.7:c.339+233_339+234del|||||||rs201612534||-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||AC|AC||1||chr22:g.28798808_28798809del|||||||||||||,-|intron_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||2/4|ENST00000405219.7:c.174+248_174+249del|||||||rs201612534||-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||AC|AC||1||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs201612534|1895|1||||3||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs201612534|3083|1||||5||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs201612534|1874|1||||3||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|downstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs201612534|97|-1||HGNC|HGNC:12801|2||||||||Ensembl||AC|AC||1||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs201612534|1763|-1||HGNC|HGNC:12801|2||||||||Ensembl||AC|AC||1||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA||||||||||rs201612534|1871|1||||||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||||||||||rs201612534|1869|1||||||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs201612534|1846|1||||||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs201612534|1871|1||||||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs201612534|1872|1||||||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs201612534|1875|1||||||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs201612534|1879|1||||||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs201612534|1879|1||||||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs201612534|1862|1||||||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs201612534|1874|1||||||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||||||||||rs201612534|1874|1||||||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs201612534|1870|1||||||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs201612534|1871|1||||||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs201612534|1879|1||||||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs201612534|1879|1||||||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs201612534|1880|1||||||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs201612534|1864|1||||||||||||Ensembl||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||2/5|NM_001079539.2:c.324+248_324+249del|||||||rs201612534||-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||2/5|NM_001393999.1:c.174+248_174+249del|||||||rs201612534||-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||2/4|NM_001394000.1:c.174+248_174+249del|||||||rs201612534||-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||AC|AC||||chr22:g.28798808_28798809del|||||||||||||,-|intron_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||2/4|NM_005080.4:c.324+248_324+249del|||||||rs201612534||-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||AC|AC||||chr22:g.28798808_28798809del|||||||||||||;SpliceAI=G|XBP1|0.00|0.00|0.00|0.00|13|-18|10|13;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000418292,ENST00000451486,ENST00000458080,ENST00000482720,ENST00000484256,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494,7494,7494;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,.,.,.,XBP1,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1,XBP1,XBP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16516;gnomADv4_1_AC_joint_XX=8611;gnomADv4_1_AC_joint_XY=7905;gnomADv4_1_AF_grpmax_joint=0.214631;gnomADv4_1_AF_joint=0.0810148;gnomADv4_1_AF_joint_XX=0.0833059;gnomADv4_1_AF_joint_XY=0.0786583;gnomADv4_1_AN_grpmax_joint=5386;gnomADv4_1_AN_joint=203864;gnomADv4_1_AN_joint_XX=103366;gnomADv4_1_AN_joint_XY=100498;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1149;gnomADv4_1_nhomalt_joint_XX=570;gnomADv4_1_nhomalt_joint_XY=579;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28800506 chr22_28800506_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;AlphaMissense_class=likely_benign;AlphaMissense_pathogenicity=0.0813;AlphaMissense_protein_variant=A7T;AlphaMissense_transcript_id=ENST00000216037.10;AlphaMissense_uniprot_id=P17861;CADD_PHREDscore=16.65;CADD_Rawscore=1.97857;CSQ=T|missense_variant|MODERATE|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding|1/5||ENST00000216037.10:c.19G>A|ENSP00000216037.6:p.Ala7Thr|92|19|7|A/T|Gcg/Acg|rs5762809||-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||C|C||1||chr22:g.28800506C>T|||||||||||||,T|missense_variant|MODERATE|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding|1/6||ENST00000344347.6:c.19G>A|ENSP00000343155.5:p.Ala7Thr|64|19|7|A/T|Gcg/Acg|rs5762809||-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||C|C||1||chr22:g.28800506C>T|||||||||||||,T|missense_variant|MODERATE|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding|1/5||ENST00000403532.7:c.19G>A|ENSP00000385162.3:p.Ala7Thr|53|19|7|A/T|Gcg/Acg|rs5762809||-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||C|C||1||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs5762809|373|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||C|C||1||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs5762809|198|1||||3||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs5762809|1386|1||||5||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs5762809|177|1||||3||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron|1/2||ENST00000482720.1:n.64G>A||64|||||rs5762809||-1||HGNC|HGNC:12801|2||||||||Ensembl||C|C||1||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs5762809|3461|-1||HGNC|HGNC:12801|2||||||||Ensembl||C|C||1||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA||||||||||rs5762809|174|1||||||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||||||||||rs5762809|172|1||||||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs5762809|149|1||||||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs5762809|174|1||||||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs5762809|175|1||||||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs5762809|178|1||||||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs5762809|182|1||||||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs5762809|182|1||||||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs5762809|165|1||||||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs5762809|177|1||||||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||||||||||rs5762809|177|1||||||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs5762809|173|1||||||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs5762809|174|1||||||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs5762809|182|1||||||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs5762809|182|1||||||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs5762809|183|1||||||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs5762809|167|1||||||||||||Ensembl||C|C||||chr22:g.28800506C>T|||||||||||||,T|missense_variant|MODERATE|XBP1|7494|Transcript|NM_001079539.2|protein_coding|1/6||NM_001079539.2:c.19G>A|NP_001073007.1:p.Ala7Thr|64|19|7|A/T|Gcg/Acg|rs5762809||-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs5762809|429|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||C|C||||chr22:g.28800506C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs5762809|429|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||C|C||||chr22:g.28800506C>T|||||||||||||,T|missense_variant|MODERATE|XBP1|7494|Transcript|NM_005080.4|protein_coding|1/5||NM_005080.4:c.19G>A|NP_005071.2:p.Ala7Thr|64|19|7|A/T|Gcg/Acg|rs5762809||-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||C|C||||chr22:g.28800506C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7PBP|promoter||||||||||rs5762809|||||||||||||||||||||chr22:g.28800506C>T|||||||||||||;REVEL_score=0.054;SpliceAI=T|XBP1|0.00|0.00|0.00|0.00|-2|-31|-29|36;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000418292,ENST00000451486,ENST00000458080,ENST00000482720,ENST00000484256,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4,ENSR22_B7PBP;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494,7494,7494,.;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,.,.,.,XBP1,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1,XBP1,XBP1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=197906;gnomADv4_1_AC_joint_XX=97525;gnomADv4_1_AC_joint_XY=100381;gnomADv4_1_AF_grpmax_joint=0.265919;gnomADv4_1_AF_joint=0.132996;gnomADv4_1_AF_joint_XX=0.129364;gnomADv4_1_AF_joint_XY=0.136725;gnomADv4_1_AN_grpmax_joint=78336;gnomADv4_1_AN_joint=1488060;gnomADv4_1_AN_joint_XX=753878;gnomADv4_1_AN_joint_XY=734182;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=14817;gnomADv4_1_nhomalt_joint_XX=6990;gnomADv4_1_nhomalt_joint_XY=7827;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28800769 chr22_28800769_G_C G C 59 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.053;CADD_Rawscore=-0.7865;CSQ=C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs2269577|172|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||G|G||1||chr22:g.28800769G>C|risk_factor||1||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs2269577|200|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||G|G||1||chr22:g.28800769G>C|risk_factor||1||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs2269577|211|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||G|G||1||chr22:g.28800769G>C|risk_factor||1||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs2269577|636|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||G|G||1||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+32G>C|||||||rs2269577||1||||3||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs2269577|1123|1||||5||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+32G>C|||||||rs2269577||1||||3||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs2269577|200|-1||HGNC|HGNC:12801|2||||||||Ensembl||G|G||1||chr22:g.28800769G>C|risk_factor||1||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs2269577|3724|-1||HGNC|HGNC:12801|2||||||||Ensembl||G|G||1||chr22:g.28800769G>C|risk_factor||1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA|1/1||ENST00000585003.2:n.90G>C||90|||||rs2269577||1||||||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+32G>C|||||||rs2269577||1||||||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+32G>C|||||||rs2269577||1||||||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+32G>C|||||||rs2269577||1||||||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+32G>C|||||||rs2269577||1||||||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+32G>C|||||||rs2269577||1||||||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+32G>C|||||||rs2269577||1||||||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+32G>C|||||||rs2269577||1||||||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+32G>C|||||||rs2269577||1||||||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+32G>C|||||||rs2269577||1||||||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+32G>C|||||||rs2269577||1||||||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||1/2|ENST00000810427.1:n.59+32G>C|||||||rs2269577||1||||||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.58+32G>C|||||||rs2269577||1||||||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.50+32G>C|||||||rs2269577||1||||||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.50+32G>C|||||||rs2269577||1||||||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+32G>C|||||||rs2269577||1||||||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.65+32G>C|||||||rs2269577||1||||||||||||Ensembl||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs2269577|200|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs2269577|692|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs2269577|692|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs2269577|200|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||G|G||||chr22:g.28800769G>C|risk_factor||1||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_D3FKP|enhancer||||||||||rs2269577|||||||||||||||||||||chr22:g.28800769G>C|risk_factor||1||||||||||;ClinVar_CLNDN=.;ClinVar_CLNHGVS=NC_000022.11:g.28800769G>C;ClinVar_CLNSIG=risk_factor;ClinVar_GENEINFO=XBP1:7494;ClinVar_Variation_ID=12195;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000418292,ENST00000451486,ENST00000458080,ENST00000482720,ENST00000484256,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4,ENSR22_D3FKP;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494,7494,7494,.;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,.,.,.,XBP1,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1,XBP1,XBP1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=177944;gnomADv4_1_AC_joint_XX=86203;gnomADv4_1_AC_joint_XY=91741;gnomADv4_1_AF_grpmax_joint=0.67973;gnomADv4_1_AF_joint=0.374958;gnomADv4_1_AF_joint_XX=0.371744;gnomADv4_1_AF_joint_XY=0.37803;gnomADv4_1_AN_grpmax_joint=27508;gnomADv4_1_AN_joint=474570;gnomADv4_1_AN_joint_XX=231888;gnomADv4_1_AN_joint_XY=242682;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=36766;gnomADv4_1_nhomalt_joint_XX=17668;gnomADv4_1_nhomalt_joint_XY=19098;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28800855 chr22_28800855_G_C G C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=8.608;CADD_Rawscore=0.833819;CSQ=C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs2269578|258|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||G|G||1||chr22:g.28800855G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs2269578|286|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||G|G||1||chr22:g.28800855G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs2269578|297|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||G|G||1||chr22:g.28800855G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs2269578|722|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||G|G||1||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+118G>C|||||||rs2269578||1||||3||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs2269578|1037|1||||5||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+118G>C|||||||rs2269578||1||||3||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs2269578|286|-1||HGNC|HGNC:12801|2||||||||Ensembl||G|G||1||chr22:g.28800855G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000484256|retained_intron||||||||||rs2269578|3810|-1||HGNC|HGNC:12801|2||||||||Ensembl||G|G||1||chr22:g.28800855G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA|1/1||ENST00000585003.2:n.176G>C||176|||||rs2269578||1||||||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+118G>C|||||||rs2269578||1||||||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+118G>C|||||||rs2269578||1||||||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+118G>C|||||||rs2269578||1||||||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+118G>C|||||||rs2269578||1||||||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+118G>C|||||||rs2269578||1||||||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+118G>C|||||||rs2269578||1||||||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+118G>C|||||||rs2269578||1||||||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+118G>C|||||||rs2269578||1||||||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+118G>C|||||||rs2269578||1||||||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+118G>C|||||||rs2269578||1||||||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||1/2|ENST00000810427.1:n.59+118G>C|||||||rs2269578||1||||||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.58+118G>C|||||||rs2269578||1||||||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.50+118G>C|||||||rs2269578||1||||||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.50+118G>C|||||||rs2269578||1||||||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+118G>C|||||||rs2269578||1||||||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.65+118G>C|||||||rs2269578||1||||||||||||Ensembl||G|G||||chr22:g.28800855G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs2269578|286|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||G|G||||chr22:g.28800855G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs2269578|778|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||G|G||||chr22:g.28800855G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs2269578|778|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||G|G||||chr22:g.28800855G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs2269578|286|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||G|G||||chr22:g.28800855G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_D3FKP|enhancer||||||||||rs2269578|||||||||||||||||||||chr22:g.28800855G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000418292,ENST00000451486,ENST00000458080,ENST00000482720,ENST00000484256,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4,ENSR22_D3FKP;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494,7494,7494,.;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,.,.,.,XBP1,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1,XBP1,XBP1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45509;gnomADv4_1_AC_joint_XX=21807;gnomADv4_1_AC_joint_XY=23702;gnomADv4_1_AF_grpmax_joint=0.283151;gnomADv4_1_AF_joint=0.125923;gnomADv4_1_AF_joint_XX=0.121435;gnomADv4_1_AF_joint_XY=0.130357;gnomADv4_1_AN_grpmax_joint=17330;gnomADv4_1_AN_joint=361402;gnomADv4_1_AN_joint_XX=179578;gnomADv4_1_AN_joint_XY=181824;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3580;gnomADv4_1_nhomalt_joint_XX=1603;gnomADv4_1_nhomalt_joint_XY=1977;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28802163 chr22_28802163_T_G T G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.164;CADD_Rawscore=-0.479496;CSQ=G|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs3788409|1566|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||T|T||1||chr22:g.28802163T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs3788409|1594|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||T|T||1||chr22:g.28802163T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs3788409|1605|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||T|T||1||chr22:g.28802163T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs3788409|2030|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||T|T||1||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+1426T>G|||||||rs3788409||1||||3||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+169T>G|||||||rs3788409||1||||5||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+1426T>G|||||||rs3788409||1||||3||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs3788409|1594|-1||HGNC|HGNC:12801|2||||||||Ensembl||T|T||1||chr22:g.28802163T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA||||||||||rs3788409|934|1||||||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+1426T>G|||||||rs3788409||1||||||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+1426T>G|||||||rs3788409||1||||||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+1426T>G|||||||rs3788409||1||||||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+1426T>G|||||||rs3788409||1||||||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+1426T>G|||||||rs3788409||1||||||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+1426T>G|||||||rs3788409||1||||||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+1426T>G|||||||rs3788409||1||||||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+1426T>G|||||||rs3788409||1||||||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+1426T>G|||||||rs3788409||1||||||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+1426T>G|||||||rs3788409||1||||||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||1/2|ENST00000810427.1:n.59+1426T>G|||||||rs3788409||1||||||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.58+1426T>G|||||||rs3788409||1||||||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.50+1426T>G|||||||rs3788409||1||||||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.50+1426T>G|||||||rs3788409||1||||||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+1426T>G|||||||rs3788409||1||||||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.65+1426T>G|||||||rs3788409||1||||||||||||Ensembl||T|T||||chr22:g.28802163T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs3788409|1594|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||T|T||||chr22:g.28802163T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs3788409|2086|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||T|T||||chr22:g.28802163T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs3788409|2086|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||T|T||||chr22:g.28802163T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs3788409|1594|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||T|T||||chr22:g.28802163T>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_D3FKP|enhancer||||||||||rs3788409|||||||||||||||||||||chr22:g.28802163T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000418292,ENST00000451486,ENST00000458080,ENST00000482720,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4,ENSR22_D3FKP;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494,7494,7494,.;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,.,.,.,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1,XBP1,XBP1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60659;gnomADv4_1_AC_joint_XX=30759;gnomADv4_1_AC_joint_XY=29900;gnomADv4_1_AF_grpmax_joint=0.677426;gnomADv4_1_AF_joint=0.39933;gnomADv4_1_AF_joint_XX=0.396052;gnomADv4_1_AF_joint_XY=0.402759;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=151902;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13411;gnomADv4_1_nhomalt_joint_XX=6757;gnomADv4_1_nhomalt_joint_XY=6654;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28802669 chr22_28802669_CT_C CT C 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.891;CADDIndel_Rawscore=-0.047656;CSQ=-|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs66992545|2073|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||T|T||1||chr22:g.28802683del|||||||||||||,-|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs66992545|2101|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||T|T||1||chr22:g.28802683del|||||||||||||,-|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs66992545|2112|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||T|T||1||chr22:g.28802683del|||||||||||||,-|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs66992545|2537|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||T|T||1||chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+1946del|||||||rs66992545||1||||3||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+689del|||||||rs66992545||1||||5||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+1946del|||||||rs66992545||1||||3||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs66992545|2101|-1||HGNC|HGNC:12801|2||||||||Ensembl||T|T||1||chr22:g.28802683del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA||||||||||rs66992545|1441|1||||||||||||Ensembl||T|T||||chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+1946del|||||||rs66992545||1||||||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+1946del|||||||rs66992545||1||||||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+1946del|||||||rs66992545||1||||||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+1946del|||||||rs66992545||1||||||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+1946del|||||||rs66992545||1||||||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+1946del|||||||rs66992545||1||||||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+1946del|||||||rs66992545||1||||||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+1946del|||||||rs66992545||1||||||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+1946del|||||||rs66992545||1||||||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+1946del|||||||rs66992545||1||||||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||1/2|ENST00000810427.1:n.60-1245del|||||||rs66992545||1||||||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.58+1946del|||||||rs66992545||1||||||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.50+1946del|||||||rs66992545||1||||||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.50+1946del|||||||rs66992545||1||||||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+1946del|||||||rs66992545||1||||||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.65+1946del|||||||rs66992545||1||||||||||||Ensembl||T|T|||13|chr22:g.28802683del|||||||||||||,-|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs66992545|2101|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||T|T||||chr22:g.28802683del|||||||||||||,-|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs66992545|2593|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||T|T||||chr22:g.28802683del|||||||||||||,-|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs66992545|2593|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||T|T||||chr22:g.28802683del|||||||||||||,-|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs66992545|2101|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||T|T||||chr22:g.28802683del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_D3FKP|enhancer||||||||||rs66992545|||||||||||||||||||||chr22:g.28802683del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000418292,ENST00000451486,ENST00000458080,ENST00000482720,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4,ENSR22_D3FKP;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494,7494,7494,.;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,.,.,.,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1,XBP1,XBP1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52709;gnomADv4_1_AC_joint_XX=27114;gnomADv4_1_AC_joint_XY=25595;gnomADv4_1_AF_grpmax_joint=0.652585;gnomADv4_1_AF_joint=0.377366;gnomADv4_1_AF_joint_XX=0.374834;gnomADv4_1_AF_joint_XY=0.380086;gnomADv4_1_AN_grpmax_joint=4758;gnomADv4_1_AN_joint=139676;gnomADv4_1_AN_joint_XX=72336;gnomADv4_1_AN_joint_XY=67340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10006;gnomADv4_1_nhomalt_joint_XX=5128;gnomADv4_1_nhomalt_joint_XY=4878;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28803270 chr22_28803270_C_A C A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.088;CADD_Rawscore=-0.645272;CSQ=A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs6005892|2673|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||C|C||1||chr22:g.28803270C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs6005892|2701|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||C|C||1||chr22:g.28803270C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs6005892|2712|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||C|C||1||chr22:g.28803270C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs6005892|3137|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||C|C||1||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+2533C>A|||||||rs6005892||1||||3||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+1276C>A|||||||rs6005892||1||||5||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+2533C>A|||||||rs6005892||1||||3||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs6005892|2701|-1||HGNC|HGNC:12801|2||||||||Ensembl||C|C||1||chr22:g.28803270C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA||||||||||rs6005892|2041|1||||||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+2533C>A|||||||rs6005892||1||||||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+2533C>A|||||||rs6005892||1||||||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+2533C>A|||||||rs6005892||1||||||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+2533C>A|||||||rs6005892||1||||||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+2533C>A|||||||rs6005892||1||||||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+2533C>A|||||||rs6005892||1||||||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+2533C>A|||||||rs6005892||1||||||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+2533C>A|||||||rs6005892||1||||||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+2533C>A|||||||rs6005892||1||||||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+2533C>A|||||||rs6005892||1||||||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||1/2|ENST00000810427.1:n.60-658C>A|||||||rs6005892||1||||||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.58+2533C>A|||||||rs6005892||1||||||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.50+2533C>A|||||||rs6005892||1||||||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.50+2533C>A|||||||rs6005892||1||||||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+2533C>A|||||||rs6005892||1||||||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.65+2533C>A|||||||rs6005892||1||||||||||||Ensembl||C|C||||chr22:g.28803270C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs6005892|2701|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||C|C||||chr22:g.28803270C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs6005892|3193|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||C|C||||chr22:g.28803270C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs6005892|3193|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||C|C||||chr22:g.28803270C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs6005892|2701|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||C|C||||chr22:g.28803270C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000418292,ENST00000451486,ENST00000458080,ENST00000482720,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494,7494,7494;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,.,.,.,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1,XBP1,XBP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60479;gnomADv4_1_AC_joint_XX=30679;gnomADv4_1_AC_joint_XY=29800;gnomADv4_1_AF_grpmax_joint=0.67589;gnomADv4_1_AF_joint=0.39867;gnomADv4_1_AF_joint_XX=0.395287;gnomADv4_1_AF_joint_XY=0.402214;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=151702;gnomADv4_1_AN_joint_XX=77612;gnomADv4_1_AN_joint_XY=74090;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13320;gnomADv4_1_nhomalt_joint_XX=6707;gnomADv4_1_nhomalt_joint_XY=6613;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28803529 chr22_28803529_C_CAA C CAA 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=11;CADDIndel_PHREDscore=0.367;CADDIndel_Rawscore=-0.27051;CSQ=AA|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs59930533|2932|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl|||||1||chr22:g.28803553_28803554dup|||||||||||||,AA|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs59930533|2960|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl|||||1||chr22:g.28803553_28803554dup|||||||||||||,AA|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs59930533|2971|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl|||||1||chr22:g.28803553_28803554dup|||||||||||||,AA|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs59930533|3396|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl|||||1||chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+2816_34+2817dup|||||||rs59930533||1||||3||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+1559_103+1560dup|||||||rs59930533||1||||5||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+2816_55+2817dup|||||||rs59930533||1||||3||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs59930533|2960|-1||HGNC|HGNC:12801|2||||||||Ensembl|||||1||chr22:g.28803553_28803554dup|||||||||||||,AA|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA||||||||||rs59930533|2300|1||||||||||||Ensembl|||||||chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+2816_60+2817dup|||||||rs59930533||1||||||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+2816_83+2817dup|||||||rs59930533||1||||||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+2816_58+2817dup|||||||rs59930533||1||||||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+2816_57+2817dup|||||||rs59930533||1||||||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+2816_54+2817dup|||||||rs59930533||1||||||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+2816_50+2817dup|||||||rs59930533||1||||||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+2816_50+2817dup|||||||rs59930533||1||||||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+2816_67+2817dup|||||||rs59930533||1||||||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+2816_55+2817dup|||||||rs59930533||1||||||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+2816_55+2817dup|||||||rs59930533||1||||||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||1/2|ENST00000810427.1:n.60-375_60-374dup|||||||rs59930533||1||||||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.58+2816_58+2817dup|||||||rs59930533||1||||||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.50+2816_50+2817dup|||||||rs59930533||1||||||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.50+2816_50+2817dup|||||||rs59930533||1||||||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+2816_49+2817dup|||||||rs59930533||1||||||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.65+2816_65+2817dup|||||||rs59930533||1||||||||||||Ensembl||||||25|chr22:g.28803553_28803554dup|||||||||||||,AA|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs59930533|2960|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq|||||||chr22:g.28803553_28803554dup|||||||||||||,AA|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs59930533|3452|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq|||||||chr22:g.28803553_28803554dup|||||||||||||,AA|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs59930533|3452|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq|||||||chr22:g.28803553_28803554dup|||||||||||||,AA|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs59930533|2960|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq|||||||chr22:g.28803553_28803554dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000418292,ENST00000451486,ENST00000458080,ENST00000482720,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494,7494,7494;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,.,.,.,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1,XBP1,XBP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6077;gnomADv4_1_AC_joint_XX=3485;gnomADv4_1_AC_joint_XY=2592;gnomADv4_1_AF_grpmax_joint=0.230769;gnomADv4_1_AF_joint=0.115383;gnomADv4_1_AF_joint_XX=0.120247;gnomADv4_1_AF_joint_XY=0.109432;gnomADv4_1_AN_grpmax_joint=52;gnomADv4_1_AN_joint=52668;gnomADv4_1_AN_joint_XX=28982;gnomADv4_1_AN_joint_XY=23686;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=495;gnomADv4_1_nhomalt_joint_XX=277;gnomADv4_1_nhomalt_joint_XY=218;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28804129 chr22_28804129_T_C T C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=4.189;CADD_Rawscore=0.382019;CSQ=C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs5762812|3532|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||T|T||1||chr22:g.28804129T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs5762812|3560|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||T|T||1||chr22:g.28804129T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs5762812|3571|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||T|T||1||chr22:g.28804129T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs5762812|3996|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl||T|T||1||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+3392T>C|||||||rs5762812||1||||3||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+2135T>C|||||||rs5762812||1||||5||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+3392T>C|||||||rs5762812||1||||3||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs5762812|3560|-1||HGNC|HGNC:12801|2||||||||Ensembl||T|T||1||chr22:g.28804129T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA||||||||||rs5762812|2900|1||||||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+3392T>C|||||||rs5762812||1||||||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+3392T>C|||||||rs5762812||1||||||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+3392T>C|||||||rs5762812||1||||||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+3392T>C|||||||rs5762812||1||||||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+3392T>C|||||||rs5762812||1||||||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+3392T>C|||||||rs5762812||1||||||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+3392T>C|||||||rs5762812||1||||||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+3392T>C|||||||rs5762812||1||||||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+3392T>C|||||||rs5762812||1||||||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+3392T>C|||||||rs5762812||1||||||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.199+62T>C|||||||rs5762812||1||||||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.58+3392T>C|||||||rs5762812||1||||||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.50+3392T>C|||||||rs5762812||1||||||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.50+3392T>C|||||||rs5762812||1||||||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+3392T>C|||||||rs5762812||1||||||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.65+3392T>C|||||||rs5762812||1||||||||||||Ensembl||T|T||||chr22:g.28804129T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs5762812|3560|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||T|T||||chr22:g.28804129T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs5762812|4052|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq||T|T||||chr22:g.28804129T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs5762812|4052|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq||T|T||||chr22:g.28804129T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs5762812|3560|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||T|T||||chr22:g.28804129T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000418292,ENST00000451486,ENST00000458080,ENST00000482720,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494,7494,7494;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,.,.,.,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1,XBP1,XBP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15658;gnomADv4_1_AC_joint_XX=7904;gnomADv4_1_AC_joint_XY=7754;gnomADv4_1_AF_grpmax_joint=0.28064;gnomADv4_1_AF_joint=0.102996;gnomADv4_1_AF_joint_XX=0.101717;gnomADv4_1_AF_joint_XY=0.104333;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152026;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1100;gnomADv4_1_nhomalt_joint_XX=530;gnomADv4_1_nhomalt_joint_XY=570;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28804659 chr22_28804659_C_CA C CA 33 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=33;CADDIndel_PHREDscore=0.609;CADDIndel_Rawscore=-0.143846;CSQ=A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs76632142|4062|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl|||||1||chr22:g.28804683dup|||||||||||||,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs76632142|4090|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl|||||1||chr22:g.28804683dup|||||||||||||,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs76632142|4101|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl|||||1||chr22:g.28804683dup|||||||||||||,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000405219|protein_coding||||||||||rs76632142|4526|-1||HGNC|HGNC:12801|2|CCDS93142.1|ENSP00000384295||B1AHH1.107|UPI0000D4E1B4|||Ensembl|||||1||chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+3946dup|||||||rs76632142||1||||3||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+2689dup|||||||rs76632142||1||||5||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+3946dup|||||||rs76632142||1||||3||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs76632142|4090|-1||HGNC|HGNC:12801|2||||||||Ensembl|||||1||chr22:g.28804683dup|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA||||||||||rs76632142|3430|1||||||||||||Ensembl|||||||chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+3946dup|||||||rs76632142||1||||||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+3946dup|||||||rs76632142||1||||||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+3946dup|||||||rs76632142||1||||||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+3946dup|||||||rs76632142||1||||||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+3946dup|||||||rs76632142||1||||||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+3946dup|||||||rs76632142||1||||||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+3946dup|||||||rs76632142||1||||||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+3946dup|||||||rs76632142||1||||||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+3946dup|||||||rs76632142||1||||||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+3946dup|||||||rs76632142||1||||||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.199+616dup|||||||rs76632142||1||||||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.58+3946dup|||||||rs76632142||1||||||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.50+3946dup|||||||rs76632142||1||||||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.50+3946dup|||||||rs76632142||1||||||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+3946dup|||||||rs76632142||1||||||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.65+3946dup|||||||rs76632142||1||||||||||||Ensembl||||||24|chr22:g.28804683dup|||||||||||||,A|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs76632142|4090|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq|||||||chr22:g.28804683dup|||||||||||||,A|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001393999.1|protein_coding||||||||||rs76632142|4582|-1||EntrezGene|HGNC:12801|||NP_001380928.1||||||RefSeq|||||||chr22:g.28804683dup|||||||||||||,A|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001394000.1|protein_coding||||||||||rs76632142|4582|-1||EntrezGene|HGNC:12801|||NP_001380929.1||||||RefSeq|||||||chr22:g.28804683dup|||||||||||||,A|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs76632142|4090|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq|||||||chr22:g.28804683dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000405219,ENST00000418292,ENST00000451486,ENST00000458080,ENST00000482720,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_001393999.1,NM_001394000.1,NM_005080.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494,7494,7494;VEP_SYMBOL=XBP1,XBP1,XBP1,XBP1,.,.,.,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1,XBP1,XBP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15193;gnomADv4_1_AC_joint_XX=8259;gnomADv4_1_AC_joint_XY=6934;gnomADv4_1_AF_grpmax_joint=0.365151;gnomADv4_1_AF_joint=0.246624;gnomADv4_1_AF_joint_XX=0.248093;gnomADv4_1_AF_joint_XY=0.244897;gnomADv4_1_AN_grpmax_joint=16270;gnomADv4_1_AN_joint=61604;gnomADv4_1_AN_joint_XX=33290;gnomADv4_1_AN_joint_XY=28314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1839;gnomADv4_1_nhomalt_joint_XX=998;gnomADv4_1_nhomalt_joint_XY=841;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28805229 chr22_28805229_A_G A G 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=41;CADD_PHREDscore=1.447;CADD_Rawscore=0.078739;CSQ=G|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000216037|protein_coding||||||||||rs5752801|4632|-1||HGNC|HGNC:12801|1|CCDS13847.1|ENSP00000216037|P17861.221||UPI000006FC05|P17861-1||Ensembl||A|A||1||chr22:g.28805229A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000344347|protein_coding||||||||||rs5752801|4660|-1||HGNC|HGNC:12801|5||ENSP00000343155|P17861.221||UPI000006EB61|P17861-2||Ensembl||A|A||1||chr22:g.28805229A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000403532|protein_coding||||||||||rs5752801|4671|-1||HGNC|HGNC:12801|3||ENSP00000385162||B1AHH2.110|UPI000161104F|||Ensembl||A|A||1||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+4492A>G|||||||rs5752801||1||||3||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+3235A>G|||||||rs5752801||1||||5||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+4492A>G|||||||rs5752801||1||||3||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XBP1|ENSG00000100219|Transcript|ENST00000482720|retained_intron||||||||||rs5752801|4660|-1||HGNC|HGNC:12801|2||||||||Ensembl||A|A||1||chr22:g.28805229A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000585003|lncRNA||||||||||rs5752801|4000|1||||||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+4492A>G|||||||rs5752801||1||||||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+4492A>G|||||||rs5752801||1||||||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+4492A>G|||||||rs5752801||1||||||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+4492A>G|||||||rs5752801||1||||||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+4492A>G|||||||rs5752801||1||||||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+4492A>G|||||||rs5752801||1||||||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+4492A>G|||||||rs5752801||1||||||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+4492A>G|||||||rs5752801||1||||||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+4492A>G|||||||rs5752801||1||||||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+4492A>G|||||||rs5752801||1||||||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.199+1162A>G|||||||rs5752801||1||||||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.58+4492A>G|||||||rs5752801||1||||||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.50+4492A>G|||||||rs5752801||1||||||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.50+4492A>G|||||||rs5752801||1||||||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+4492A>G|||||||rs5752801||1||||||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.65+4492A>G|||||||rs5752801||1||||||||||||Ensembl||A|A||||chr22:g.28805229A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_001079539.2|protein_coding||||||||||rs5752801|4660|-1||EntrezGene|HGNC:12801|||NP_001073007.1||||||RefSeq||A|A||||chr22:g.28805229A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XBP1|7494|Transcript|NM_005080.4|protein_coding||||||||||rs5752801|4660|-1||EntrezGene|HGNC:12801|||NP_005071.2||||||RefSeq||A|A||||chr22:g.28805229A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216037,ENST00000344347,ENST00000403532,ENST00000418292,ENST00000451486,ENST00000458080,ENST00000482720,ENST00000585003,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,NM_001079539.2,NM_005080.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100219,ENSG00000100219,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000100219,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,7494,7494;VEP_SYMBOL=XBP1,XBP1,XBP1,.,.,.,XBP1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XBP1,XBP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59730;gnomADv4_1_AC_joint_XX=30382;gnomADv4_1_AC_joint_XY=29348;gnomADv4_1_AF_grpmax_joint=0.672916;gnomADv4_1_AF_joint=0.39731;gnomADv4_1_AF_joint_XX=0.394551;gnomADv4_1_AF_joint_XY=0.400207;gnomADv4_1_AN_grpmax_joint=5014;gnomADv4_1_AN_joint=150336;gnomADv4_1_AN_joint_XX=77004;gnomADv4_1_AN_joint_XY=73332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13092;gnomADv4_1_nhomalt_joint_XX=6613;gnomADv4_1_nhomalt_joint_XY=6479;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28807326 chr22_28807326_C_T C T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.707;CADD_Rawscore=-0.106262;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+6589C>T|||||||rs5762813||1||||3||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+5332C>T|||||||rs5762813||1||||5||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+6589C>T|||||||rs5762813||1||||3||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+6589C>T|||||||rs5762813||1||||||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+6589C>T|||||||rs5762813||1||||||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+6589C>T|||||||rs5762813||1||||||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+6589C>T|||||||rs5762813||1||||||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+6589C>T|||||||rs5762813||1||||||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+6589C>T|||||||rs5762813||1||||||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+6589C>T|||||||rs5762813||1||||||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+6589C>T|||||||rs5762813||1||||||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+6589C>T|||||||rs5762813||1||||||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+6589C>T|||||||rs5762813||1||||||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.199+3259C>T|||||||rs5762813||1||||||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.58+6589C>T|||||||rs5762813||1||||||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.50+6589C>T|||||||rs5762813||1||||||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.50+6589C>T|||||||rs5762813||1||||||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+6589C>T|||||||rs5762813||1||||||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.65+6589C>T|||||||rs5762813||1||||||||||||Ensembl||C|C||||chr22:g.28807326C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418292,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38456;gnomADv4_1_AC_joint_XX=19690;gnomADv4_1_AC_joint_XY=18766;gnomADv4_1_AF_grpmax_joint=0.483014;gnomADv4_1_AF_joint=0.253976;gnomADv4_1_AF_joint_XX=0.254314;gnomADv4_1_AF_joint_XY=0.253622;gnomADv4_1_AN_grpmax_joint=5122;gnomADv4_1_AN_joint=151416;gnomADv4_1_AN_joint_XX=77424;gnomADv4_1_AN_joint_XY=73992;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5646;gnomADv4_1_nhomalt_joint_XX=2890;gnomADv4_1_nhomalt_joint_XY=2756;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28807976 chr22_28807976_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.623;CADD_Rawscore=0.10885;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+7239G>A|||||||rs5762814||1||||3||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+5982G>A|||||||rs5762814||1||||5||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+7239G>A|||||||rs5762814||1||||3||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+7239G>A|||||||rs5762814||1||||||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+7239G>A|||||||rs5762814||1||||||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+7239G>A|||||||rs5762814||1||||||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+7239G>A|||||||rs5762814||1||||||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+7239G>A|||||||rs5762814||1||||||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+7239G>A|||||||rs5762814||1||||||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+7239G>A|||||||rs5762814||1||||||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+7239G>A|||||||rs5762814||1||||||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+7239G>A|||||||rs5762814||1||||||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+7239G>A|||||||rs5762814||1||||||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.199+3909G>A|||||||rs5762814||1||||||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.58+7239G>A|||||||rs5762814||1||||||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.50+7239G>A|||||||rs5762814||1||||||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.50+7239G>A|||||||rs5762814||1||||||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+7239G>A|||||||rs5762814||1||||||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.66-6165G>A|||||||rs5762814||1||||||||||||Ensembl||G|G||||chr22:g.28807976G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19438;gnomADv4_1_AC_joint_XX=9878;gnomADv4_1_AC_joint_XY=9560;gnomADv4_1_AF_grpmax_joint=0.280133;gnomADv4_1_AF_joint=0.127739;gnomADv4_1_AF_joint_XX=0.127002;gnomADv4_1_AF_joint_XY=0.128508;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1360;gnomADv4_1_nhomalt_joint_XX=671;gnomADv4_1_nhomalt_joint_XY=689;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28808332 chr22_28808332_A_AT A AT 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=2.506;CADDIndel_Rawscore=0.224308;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+7611dup|||||||rs35091665||1||||3||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+6354dup|||||||rs35091665||1||||5||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+7611dup|||||||rs35091665||1||||3||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+7611dup|||||||rs35091665||1||||||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+7611dup|||||||rs35091665||1||||||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+7611dup|||||||rs35091665||1||||||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+7611dup|||||||rs35091665||1||||||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+7611dup|||||||rs35091665||1||||||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+7611dup|||||||rs35091665||1||||||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+7611dup|||||||rs35091665||1||||||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+7611dup|||||||rs35091665||1||||||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+7611dup|||||||rs35091665||1||||||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+7611dup|||||||rs35091665||1||||||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.199+4281dup|||||||rs35091665||1||||||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.58+7611dup|||||||rs35091665||1||||||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.50+7611dup|||||||rs35091665||1||||||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.50+7611dup|||||||rs35091665||1||||||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+7611dup|||||||rs35091665||1||||||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.66-5793dup|||||||rs35091665||1||||||||||||Ensembl||||||16|chr22:g.28808348dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418292,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33945;gnomADv4_1_AC_joint_XX=17401;gnomADv4_1_AC_joint_XY=16544;gnomADv4_1_AF_grpmax_joint=0.440009;gnomADv4_1_AF_joint=0.239046;gnomADv4_1_AF_joint_XX=0.237155;gnomADv4_1_AF_joint_XY=0.241068;gnomADv4_1_AN_grpmax_joint=4484;gnomADv4_1_AN_joint=142002;gnomADv4_1_AN_joint_XX=73374;gnomADv4_1_AN_joint_XY=68628;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4274;gnomADv4_1_nhomalt_joint_XX=2170;gnomADv4_1_nhomalt_joint_XY=2104;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28808620 chr22_28808620_A_G A G 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.114;CADD_Rawscore=-0.577388;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+7883A>G|||||||rs5752802||1||||3||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+6626A>G|||||||rs5752802||1||||5||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+7883A>G|||||||rs5752802||1||||3||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+7883A>G|||||||rs5752802||1||||||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+7883A>G|||||||rs5752802||1||||||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+7883A>G|||||||rs5752802||1||||||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+7883A>G|||||||rs5752802||1||||||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+7883A>G|||||||rs5752802||1||||||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+7883A>G|||||||rs5752802||1||||||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+7883A>G|||||||rs5752802||1||||||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+7883A>G|||||||rs5752802||1||||||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+7883A>G|||||||rs5752802||1||||||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+7883A>G|||||||rs5752802||1||||||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.199+4553A>G|||||||rs5752802||1||||||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.58+7883A>G|||||||rs5752802||1||||||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.50+7883A>G|||||||rs5752802||1||||||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.50+7883A>G|||||||rs5752802||1||||||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+7883A>G|||||||rs5752802||1||||||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.66-5521A>G|||||||rs5752802||1||||||||||||Ensembl||A|A||||chr22:g.28808620A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FFPT|enhancer||||||||||rs5752802|||||||||||||||||||||chr22:g.28808620A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,ENSR22_9FFPT;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17536;gnomADv4_1_AC_joint_XX=8911;gnomADv4_1_AC_joint_XY=8625;gnomADv4_1_AF_grpmax_joint=0.281497;gnomADv4_1_AF_joint=0.115267;gnomADv4_1_AF_joint_XX=0.114614;gnomADv4_1_AF_joint_XY=0.115949;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1184;gnomADv4_1_nhomalt_joint_XX=581;gnomADv4_1_nhomalt_joint_XY=603;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28809016 chr22_28809016_G_A G A 60 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=7.147;CADD_Rawscore=0.674082;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+8279G>A|||||||rs5752803||1||||3||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+7022G>A|||||||rs5752803||1||||5||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+8279G>A|||||||rs5752803||1||||3||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+8279G>A|||||||rs5752803||1||||||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+8279G>A|||||||rs5752803||1||||||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+8279G>A|||||||rs5752803||1||||||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+8279G>A|||||||rs5752803||1||||||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+8279G>A|||||||rs5752803||1||||||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+8279G>A|||||||rs5752803||1||||||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+8279G>A|||||||rs5752803||1||||||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+8279G>A|||||||rs5752803||1||||||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+8279G>A|||||||rs5752803||1||||||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+8279G>A|||||||rs5752803||1||||||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.199+4949G>A|||||||rs5752803||1||||||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.58+8279G>A|||||||rs5752803||1||||||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.50+8279G>A|||||||rs5752803||1||||||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.50+8279G>A|||||||rs5752803||1||||||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+8279G>A|||||||rs5752803||1||||||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.66-5125G>A|||||||rs5752803||1||||||||||||Ensembl||G|G||||chr22:g.28809016G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17536;gnomADv4_1_AC_joint_XX=8911;gnomADv4_1_AC_joint_XY=8625;gnomADv4_1_AF_grpmax_joint=0.280887;gnomADv4_1_AF_joint=0.115259;gnomADv4_1_AF_joint_XX=0.114573;gnomADv4_1_AF_joint_XY=0.115977;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1183;gnomADv4_1_nhomalt_joint_XX=581;gnomADv4_1_nhomalt_joint_XY=602;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28809088 chr22_28809088_A_G A G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.827;CADD_Rawscore=-0.066711;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+8351A>G|||||||rs5762815||1||||3||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+7094A>G|||||||rs5762815||1||||5||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+8351A>G|||||||rs5762815||1||||3||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+8351A>G|||||||rs5762815||1||||||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+8351A>G|||||||rs5762815||1||||||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+8351A>G|||||||rs5762815||1||||||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+8351A>G|||||||rs5762815||1||||||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+8351A>G|||||||rs5762815||1||||||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+8351A>G|||||||rs5762815||1||||||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+8351A>G|||||||rs5762815||1||||||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+8351A>G|||||||rs5762815||1||||||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+8351A>G|||||||rs5762815||1||||||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+8351A>G|||||||rs5762815||1||||||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.199+5021A>G|||||||rs5762815||1||||||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.58+8351A>G|||||||rs5762815||1||||||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.50+8351A>G|||||||rs5762815||1||||||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.50+8351A>G|||||||rs5762815||1||||||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+8351A>G|||||||rs5762815||1||||||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.66-5053A>G|||||||rs5762815||1||||||||||||Ensembl||A|A||||chr22:g.28809088A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60872;gnomADv4_1_AC_joint_XX=30900;gnomADv4_1_AC_joint_XY=29972;gnomADv4_1_AF_grpmax_joint=0.674631;gnomADv4_1_AF_joint=0.400627;gnomADv4_1_AF_joint_XX=0.397776;gnomADv4_1_AF_joint_XY=0.403609;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=151942;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13546;gnomADv4_1_nhomalt_joint_XX=6840;gnomADv4_1_nhomalt_joint_XY=6706;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28810097 chr22_28810097_CA_C CA C 40 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=40;CADDIndel_PHREDscore=0.674;CADDIndel_Rawscore=-0.118353;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+9381del|||||||rs34534772||1||||3||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+8124del|||||||rs34534772||1||||5||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+9381del|||||||rs34534772||1||||3||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs34534772|4816|1||||||||||||Ensembl||A|A||||chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+9381del|||||||rs34534772||1||||||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+9381del|||||||rs34534772||1||||||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+9381del|||||||rs34534772||1||||||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+9381del|||||||rs34534772||1||||||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+9381del|||||||rs34534772||1||||||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+9381del|||||||rs34534772||1||||||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+9381del|||||||rs34534772||1||||||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+9381del|||||||rs34534772||1||||||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+9381del|||||||rs34534772||1||||||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+9381del|||||||rs34534772||1||||||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.199+6051del|||||||rs34534772||1||||||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.58+9381del|||||||rs34534772||1||||||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.50+9381del|||||||rs34534772||1||||||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-8565del|||||||rs34534772||1||||||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+9381del|||||||rs34534772||1||||||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.66-4023del|||||||rs34534772||1||||||||||||Ensembl||A|A|||20|chr22:g.28810118del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418292,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18557;gnomADv4_1_AC_joint_XX=9972;gnomADv4_1_AC_joint_XY=8585;gnomADv4_1_AF_grpmax_joint=0.44136;gnomADv4_1_AF_joint=0.270109;gnomADv4_1_AF_joint_XX=0.269572;gnomADv4_1_AF_joint_XY=0.270735;gnomADv4_1_AN_grpmax_joint=2882;gnomADv4_1_AN_joint=68702;gnomADv4_1_AN_joint_XX=36992;gnomADv4_1_AN_joint_XY=31710;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=694;gnomADv4_1_nhomalt_joint_XX=354;gnomADv4_1_nhomalt_joint_XY=340;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28810221 chr22_28810221_T_C T C 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=9.194;CADD_Rawscore=0.893425;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+9484T>C|||||||rs5762816||1||||3||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+8227T>C|||||||rs5762816||1||||5||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+9484T>C|||||||rs5762816||1||||3||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs5762816|4693|1||||||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+9484T>C|||||||rs5762816||1||||||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+9484T>C|||||||rs5762816||1||||||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+9484T>C|||||||rs5762816||1||||||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+9484T>C|||||||rs5762816||1||||||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+9484T>C|||||||rs5762816||1||||||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+9484T>C|||||||rs5762816||1||||||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+9484T>C|||||||rs5762816||1||||||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+9484T>C|||||||rs5762816||1||||||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+9484T>C|||||||rs5762816||1||||||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+9484T>C|||||||rs5762816||1||||||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.199+6154T>C|||||||rs5762816||1||||||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.58+9484T>C|||||||rs5762816||1||||||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.50+9484T>C|||||||rs5762816||1||||||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-8462T>C|||||||rs5762816||1||||||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+9484T>C|||||||rs5762816||1||||||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.66-3920T>C|||||||rs5762816||1||||||||||||Ensembl||T|T||||chr22:g.28810221T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418292,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15671;gnomADv4_1_AC_joint_XX=7922;gnomADv4_1_AC_joint_XY=7749;gnomADv4_1_AF_grpmax_joint=0.282518;gnomADv4_1_AF_joint=0.103841;gnomADv4_1_AF_joint_XX=0.102537;gnomADv4_1_AF_joint_XY=0.105208;gnomADv4_1_AN_grpmax_joint=4782;gnomADv4_1_AN_joint=150914;gnomADv4_1_AN_joint_XX=77260;gnomADv4_1_AN_joint_XY=73654;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1097;gnomADv4_1_nhomalt_joint_XX=532;gnomADv4_1_nhomalt_joint_XY=565;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28811308 chr22_28811308_G_A G A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=4.7;CADD_Rawscore=0.428093;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+10571G>A|||||||rs5762817||1||||3||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+9314G>A|||||||rs5762817||1||||5||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.55+10571G>A|||||||rs5762817||1||||3||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs5762817|3606|1||||||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.60+10571G>A|||||||rs5762817||1||||||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.83+10571G>A|||||||rs5762817||1||||||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.58+10571G>A|||||||rs5762817||1||||||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.57+10571G>A|||||||rs5762817||1||||||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.54+10571G>A|||||||rs5762817||1||||||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+10571G>A|||||||rs5762817||1||||||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.50+10571G>A|||||||rs5762817||1||||||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.67+10571G>A|||||||rs5762817||1||||||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.55+10571G>A|||||||rs5762817||1||||||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+10571G>A|||||||rs5762817||1||||||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.199+7241G>A|||||||rs5762817||1||||||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-10326G>A|||||||rs5762817||1||||||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-10326G>A|||||||rs5762817||1||||||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-7375G>A|||||||rs5762817||1||||||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.49+10571G>A|||||||rs5762817||1||||||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.66-2833G>A|||||||rs5762817||1||||||||||||Ensembl||G|G||||chr22:g.28811308G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7PD9|enhancer||||||||||rs5762817|||||||||||||||||||||chr22:g.28811308G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,ENSR22_B7PD9;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21066;gnomADv4_1_AC_joint_XX=10727;gnomADv4_1_AC_joint_XY=10339;gnomADv4_1_AF_grpmax_joint=0.281172;gnomADv4_1_AF_joint=0.138627;gnomADv4_1_AF_joint_XX=0.138103;gnomADv4_1_AF_joint_XY=0.139175;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=151962;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1564;gnomADv4_1_nhomalt_joint_XX=777;gnomADv4_1_nhomalt_joint_XY=787;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28811504 chr22_28811504_T_C T C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.215;CADD_Rawscore=-0.408454;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+10767T>C|||||||rs5752804||1||||3||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+9510T>C|||||||rs5752804||1||||5||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-10468T>C|||||||rs5752804||1||||3||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs5752804|3410|1||||||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-10468T>C|||||||rs5752804||1||||||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-10468T>C|||||||rs5752804||1||||||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-10468T>C|||||||rs5752804||1||||||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-10468T>C|||||||rs5752804||1||||||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-10468T>C|||||||rs5752804||1||||||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+10767T>C|||||||rs5752804||1||||||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-10468T>C|||||||rs5752804||1||||||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-10468T>C|||||||rs5752804||1||||||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-10468T>C|||||||rs5752804||1||||||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+10767T>C|||||||rs5752804||1||||||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.199+7437T>C|||||||rs5752804||1||||||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-10130T>C|||||||rs5752804||1||||||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-10130T>C|||||||rs5752804||1||||||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-7179T>C|||||||rs5752804||1||||||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-10395T>C|||||||rs5752804||1||||||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.66-2637T>C|||||||rs5752804||1||||||||||||Ensembl||T|T||||chr22:g.28811504T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7PD9|enhancer||||||||||rs5752804|||||||||||||||||||||chr22:g.28811504T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418292,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,ENSR22_B7PD9;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60490;gnomADv4_1_AC_joint_XX=30707;gnomADv4_1_AC_joint_XY=29783;gnomADv4_1_AF_grpmax_joint=0.674428;gnomADv4_1_AF_joint=0.398343;gnomADv4_1_AF_joint_XX=0.395474;gnomADv4_1_AF_joint_XY=0.401345;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151854;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=74208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13308;gnomADv4_1_nhomalt_joint_XX=6714;gnomADv4_1_nhomalt_joint_XY=6594;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28811927 chr22_28811927_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.529;CADD_Rawscore=-0.17884;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+11190G>A|||||||rs5997408||1||||3||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.103+9933G>A|||||||rs5997408||1||||5||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-10045G>A|||||||rs5997408||1||||3||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs5997408|2987|1||||||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-10045G>A|||||||rs5997408||1||||||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-10045G>A|||||||rs5997408||1||||||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-10045G>A|||||||rs5997408||1||||||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-10045G>A|||||||rs5997408||1||||||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-10045G>A|||||||rs5997408||1||||||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+11190G>A|||||||rs5997408||1||||||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-10045G>A|||||||rs5997408||1||||||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-10045G>A|||||||rs5997408||1||||||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-10045G>A|||||||rs5997408||1||||||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+11190G>A|||||||rs5997408||1||||||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.199+7860G>A|||||||rs5997408||1||||||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-9707G>A|||||||rs5997408||1||||||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-9707G>A|||||||rs5997408||1||||||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-6756G>A|||||||rs5997408||1||||||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-9972G>A|||||||rs5997408||1||||||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.66-2214G>A|||||||rs5997408||1||||||||||||Ensembl||G|G||||chr22:g.28811927G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7PDF|enhancer||||||||||rs5997408|||||||||||||||||||||chr22:g.28811927G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,ENSR22_B7PDF;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65198;gnomADv4_1_AC_joint_XX=33225;gnomADv4_1_AC_joint_XY=31973;gnomADv4_1_AF_grpmax_joint=0.674257;gnomADv4_1_AF_joint=0.428861;gnomADv4_1_AF_joint_XX=0.427474;gnomADv4_1_AF_joint_XY=0.430311;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152026;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16061;gnomADv4_1_nhomalt_joint_XX=8198;gnomADv4_1_nhomalt_joint_XY=7863;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28812781 chr22_28812781_CTT_C CTT C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=0.323;CADDIndel_Rawscore=-0.303351;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+12055_34+12056del|||||||rs67411775||1||||3||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-9180_104-9179del|||||||rs67411775||1||||5||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-9180_56-9179del|||||||rs67411775||1||||3||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs67411775|2131|1||||||||||||Ensembl||TT|TT||||chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-9180_61-9179del|||||||rs67411775||1||||||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-9180_84-9179del|||||||rs67411775||1||||||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-9180_59-9179del|||||||rs67411775||1||||||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-9180_58-9179del|||||||rs67411775||1||||||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-9180_55-9179del|||||||rs67411775||1||||||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+12055_50+12056del|||||||rs67411775||1||||||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-9180_51-9179del|||||||rs67411775||1||||||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-9180_68-9179del|||||||rs67411775||1||||||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-9180_56-9179del|||||||rs67411775||1||||||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+12055_55+12056del|||||||rs67411775||1||||||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.199+8725_199+8726del|||||||rs67411775||1||||||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-8842_59-8841del|||||||rs67411775||1||||||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-8842_51-8841del|||||||rs67411775||1||||||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-5891_51-5890del|||||||rs67411775||1||||||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-9107_50-9106del|||||||rs67411775||1||||||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.66-1349_66-1348del|||||||rs67411775||1||||||||||||Ensembl||TT|TT|||10|chr22:g.28812792_28812793del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418292,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17403;gnomADv4_1_AC_joint_XX=8850;gnomADv4_1_AC_joint_XY=8553;gnomADv4_1_AF_grpmax_joint=0.286387;gnomADv4_1_AF_joint=0.118267;gnomADv4_1_AF_joint_XX=0.117203;gnomADv4_1_AF_joint_XY=0.119389;gnomADv4_1_AN_grpmax_joint=4672;gnomADv4_1_AN_joint=147150;gnomADv4_1_AN_joint_XX=75510;gnomADv4_1_AN_joint_XY=71640;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1168;gnomADv4_1_nhomalt_joint_XX=576;gnomADv4_1_nhomalt_joint_XY=592;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28812987 chr22_28812987_A_G A G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=9.47;CADD_Rawscore=0.921441;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+12250A>G|||||||rs16987024||1||||3||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-8985A>G|||||||rs16987024||1||||5||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-8985A>G|||||||rs16987024||1||||3||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs16987024|1927|1||||||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-8985A>G|||||||rs16987024||1||||||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-8985A>G|||||||rs16987024||1||||||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-8985A>G|||||||rs16987024||1||||||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-8985A>G|||||||rs16987024||1||||||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-8985A>G|||||||rs16987024||1||||||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+12250A>G|||||||rs16987024||1||||||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-8985A>G|||||||rs16987024||1||||||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-8985A>G|||||||rs16987024||1||||||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-8985A>G|||||||rs16987024||1||||||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+12250A>G|||||||rs16987024||1||||||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.199+8920A>G|||||||rs16987024||1||||||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-8647A>G|||||||rs16987024||1||||||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-8647A>G|||||||rs16987024||1||||||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-5696A>G|||||||rs16987024||1||||||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-8912A>G|||||||rs16987024||1||||||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||1/1|ENST00000810433.1:n.66-1154A>G|||||||rs16987024||1||||||||||||Ensembl||A|A||||chr22:g.28812987A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17516;gnomADv4_1_AC_joint_XX=8895;gnomADv4_1_AC_joint_XY=8621;gnomADv4_1_AF_grpmax_joint=0.280174;gnomADv4_1_AF_joint=0.115099;gnomADv4_1_AF_joint_XX=0.11439;gnomADv4_1_AF_joint_XY=0.115839;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152182;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1180;gnomADv4_1_nhomalt_joint_XX=577;gnomADv4_1_nhomalt_joint_XY=603;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28814280 chr22_28814280_AT_A AT A 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.091;CADDIndel_Rawscore=-0.63794;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+13556del|||||||rs57676637||1||||3||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs57676637|4014|1||||2||||||||Ensembl||T|T||||chr22:g.28814293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-7679del|||||||rs57676637||1||||5||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-7679del|||||||rs57676637||1||||3||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs57676637|633|1||||||||||||Ensembl||T|T||||chr22:g.28814293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-7679del|||||||rs57676637||1||||||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-7679del|||||||rs57676637||1||||||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-7679del|||||||rs57676637||1||||||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-7679del|||||||rs57676637||1||||||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-7679del|||||||rs57676637||1||||||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+13556del|||||||rs57676637||1||||||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-7679del|||||||rs57676637||1||||||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-7679del|||||||rs57676637||1||||||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-7679del|||||||rs57676637||1||||||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+13556del|||||||rs57676637||1||||||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-7679del|||||||rs57676637||1||||||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-7341del|||||||rs57676637||1||||||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-7341del|||||||rs57676637||1||||||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-4390del|||||||rs57676637||1||||||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-7606del|||||||rs57676637||1||||||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA|2/2||ENST00000810433.1:n.218del||206|||||rs57676637||1||||||||||||Ensembl||T|T|||12|chr22:g.28814293del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs57676637|4014|1||||||||||||Ensembl||T|T||||chr22:g.28814293del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,ENST00000810434;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58442;gnomADv4_1_AC_joint_XX=29740;gnomADv4_1_AC_joint_XY=28702;gnomADv4_1_AF_grpmax_joint=0.67297;gnomADv4_1_AF_joint=0.396212;gnomADv4_1_AF_joint_XX=0.392773;gnomADv4_1_AF_joint_XY=0.399838;gnomADv4_1_AN_grpmax_joint=5024;gnomADv4_1_AN_joint=147502;gnomADv4_1_AN_joint_XX=75718;gnomADv4_1_AN_joint_XY=71784;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12378;gnomADv4_1_nhomalt_joint_XX=6256;gnomADv4_1_nhomalt_joint_XY=6122;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28815210 chr22_28815210_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=10.35;CADD_Rawscore=1.00178;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+14473G>A|||||||rs987900615||1||||3||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs987900615|3085|1||||2||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-6762G>A|||||||rs987900615||1||||5||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-6762G>A|||||||rs987900615||1||||3||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA|1/1||ENST00000607919.1:n.297G>A||297|||||rs987900615||1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-6762G>A|||||||rs987900615||1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-6762G>A|||||||rs987900615||1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-6762G>A|||||||rs987900615||1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-6762G>A|||||||rs987900615||1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-6762G>A|||||||rs987900615||1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+14473G>A|||||||rs987900615||1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-6762G>A|||||||rs987900615||1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-6762G>A|||||||rs987900615||1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-6762G>A|||||||rs987900615||1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+14473G>A|||||||rs987900615||1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-6762G>A|||||||rs987900615||1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-6424G>A|||||||rs987900615||1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-6424G>A|||||||rs987900615||1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-3473G>A|||||||rs987900615||1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-6689G>A|||||||rs987900615||1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs987900615|911|1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs987900615|3085|1||||||||||||Ensembl||G|G||||chr22:g.28815210G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FFRQ|enhancer||||||||||rs987900615|||||||||||||||||||||chr22:g.28815210G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,ENST00000810434,ENSR22_9FFRQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31;gnomADv4_1_AC_joint_XX=16;gnomADv4_1_AC_joint_XY=15;gnomADv4_1_AF_grpmax_joint=7.34948e-05;gnomADv4_1_AF_joint=0.000203709;gnomADv4_1_AF_joint_XX=0.000205608;gnomADv4_1_AF_joint_XY=0.000201721;gnomADv4_1_AN_grpmax_joint=68032;gnomADv4_1_AN_joint=152178;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28815390 chr22_28815390_C_T C T 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.168;CADD_Rawscore=-0.47279;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+14653C>T|||||||rs133440||1||||3||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs133440|2905|1||||2||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-6582C>T|||||||rs133440||1||||5||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-6582C>T|||||||rs133440||1||||3||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA|1/1||ENST00000607919.1:n.477C>T||477|||||rs133440||1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-6582C>T|||||||rs133440||1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-6582C>T|||||||rs133440||1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-6582C>T|||||||rs133440||1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-6582C>T|||||||rs133440||1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-6582C>T|||||||rs133440||1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+14653C>T|||||||rs133440||1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-6582C>T|||||||rs133440||1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-6582C>T|||||||rs133440||1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-6582C>T|||||||rs133440||1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+14653C>T|||||||rs133440||1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-6582C>T|||||||rs133440||1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-6244C>T|||||||rs133440||1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-6244C>T|||||||rs133440||1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-3293C>T|||||||rs133440||1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-6509C>T|||||||rs133440||1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs133440|1091|1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs133440|2905|1||||||||||||Ensembl||C|C||||chr22:g.28815390C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FFRQ|enhancer||||||||||rs133440|||||||||||||||||||||chr22:g.28815390C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,ENST00000810434,ENSR22_9FFRQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=146768;gnomADv4_1_AC_joint_XX=74864;gnomADv4_1_AC_joint_XY=71904;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.963664;gnomADv4_1_AF_joint_XX=0.961743;gnomADv4_1_AF_joint_XY=0.965673;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152302;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70759;gnomADv4_1_nhomalt_joint_XX=36025;gnomADv4_1_nhomalt_joint_XY=34734;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28815447 chr22_28815447_C_T C T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.131;CADD_Rawscore=0.286919;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+14710C>T|||||||rs5762818||1||||3||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs5762818|2848|1||||2||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-6525C>T|||||||rs5762818||1||||5||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-6525C>T|||||||rs5762818||1||||3||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA|1/1||ENST00000607919.1:n.534C>T||534|||||rs5762818||1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-6525C>T|||||||rs5762818||1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-6525C>T|||||||rs5762818||1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-6525C>T|||||||rs5762818||1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-6525C>T|||||||rs5762818||1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-6525C>T|||||||rs5762818||1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+14710C>T|||||||rs5762818||1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-6525C>T|||||||rs5762818||1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-6525C>T|||||||rs5762818||1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-6525C>T|||||||rs5762818||1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+14710C>T|||||||rs5762818||1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-6525C>T|||||||rs5762818||1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-6187C>T|||||||rs5762818||1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-6187C>T|||||||rs5762818||1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-3236C>T|||||||rs5762818||1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-6452C>T|||||||rs5762818||1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs5762818|1148|1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs5762818|2848|1||||||||||||Ensembl||C|C||||chr22:g.28815447C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FFRQ|enhancer||||||||||rs5762818|||||||||||||||||||||chr22:g.28815447C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,ENST00000810434,ENSR22_9FFRQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17509;gnomADv4_1_AC_joint_XX=8899;gnomADv4_1_AC_joint_XY=8610;gnomADv4_1_AF_grpmax_joint=0.280523;gnomADv4_1_AF_joint=0.115103;gnomADv4_1_AF_joint_XX=0.114442;gnomADv4_1_AF_joint_XY=0.115794;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1179;gnomADv4_1_nhomalt_joint_XX=577;gnomADv4_1_nhomalt_joint_XY=602;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28816127 chr22_28816127_C_CT C CT 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.612;CADDIndel_Rawscore=-0.142484;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+15405dup|||||||rs71312999||1||||3||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs71312999|2167|1||||2||||||||Ensembl|||||||chr22:g.28816142dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-5830dup|||||||rs71312999||1||||5||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-5830dup|||||||rs71312999||1||||3||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs71312999|465|1||||||||||||Ensembl|||||||chr22:g.28816142dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-5830dup|||||||rs71312999||1||||||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-5830dup|||||||rs71312999||1||||||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-5830dup|||||||rs71312999||1||||||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-5830dup|||||||rs71312999||1||||||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-5830dup|||||||rs71312999||1||||||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+15405dup|||||||rs71312999||1||||||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-5830dup|||||||rs71312999||1||||||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-5830dup|||||||rs71312999||1||||||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-5830dup|||||||rs71312999||1||||||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+15405dup|||||||rs71312999||1||||||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-5830dup|||||||rs71312999||1||||||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-5492dup|||||||rs71312999||1||||||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-5492dup|||||||rs71312999||1||||||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-2541dup|||||||rs71312999||1||||||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-5757dup|||||||rs71312999||1||||||||||||Ensembl||||||15|chr22:g.28816142dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs71312999|1828|1||||||||||||Ensembl|||||||chr22:g.28816142dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs71312999|2167|1||||||||||||Ensembl|||||||chr22:g.28816142dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,ENST00000810434;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21865;gnomADv4_1_AC_joint_XX=11567;gnomADv4_1_AC_joint_XY=10298;gnomADv4_1_AF_grpmax_joint=0.304487;gnomADv4_1_AF_joint=0.160359;gnomADv4_1_AF_joint_XX=0.163173;gnomADv4_1_AF_joint_XY=0.157313;gnomADv4_1_AN_grpmax_joint=4056;gnomADv4_1_AN_joint=136350;gnomADv4_1_AN_joint_XX=70888;gnomADv4_1_AN_joint_XY=65462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1951;gnomADv4_1_nhomalt_joint_XX=1014;gnomADv4_1_nhomalt_joint_XY=937;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28816210 chr22_28816210_C_T C T 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.552;CADD_Rawscore=0.097145;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+15473C>T|||||||rs71327317||1||||3||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs71327317|2085|1||||2||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-5762C>T|||||||rs71327317||1||||5||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-5762C>T|||||||rs71327317||1||||3||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs71327317|548|1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-5762C>T|||||||rs71327317||1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-5762C>T|||||||rs71327317||1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-5762C>T|||||||rs71327317||1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-5762C>T|||||||rs71327317||1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-5762C>T|||||||rs71327317||1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+15473C>T|||||||rs71327317||1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-5762C>T|||||||rs71327317||1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-5762C>T|||||||rs71327317||1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-5762C>T|||||||rs71327317||1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+15473C>T|||||||rs71327317||1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-5762C>T|||||||rs71327317||1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-5424C>T|||||||rs71327317||1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-5424C>T|||||||rs71327317||1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-2473C>T|||||||rs71327317||1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-5689C>T|||||||rs71327317||1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs71327317|1911|1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs71327317|2085|1||||||||||||Ensembl||C|C||||chr22:g.28816210C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810433,ENST00000810434;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16994;gnomADv4_1_AC_joint_XX=8690;gnomADv4_1_AC_joint_XY=8304;gnomADv4_1_AF_grpmax_joint=0.272962;gnomADv4_1_AF_joint=0.113318;gnomADv4_1_AF_joint_XX=0.113019;gnomADv4_1_AF_joint_XY=0.113632;gnomADv4_1_AN_grpmax_joint=4638;gnomADv4_1_AN_joint=149968;gnomADv4_1_AN_joint_XX=76890;gnomADv4_1_AN_joint_XY=73078;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1132;gnomADv4_1_nhomalt_joint_XX=554;gnomADv4_1_nhomalt_joint_XY=578;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28817023 chr22_28817023_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.08;CADD_Rawscore=0.174375;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+16286G>A|||||||rs7287806||1||||3||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs7287806|1272|1||||2||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-4949G>A|||||||rs7287806||1||||5||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-4949G>A|||||||rs7287806||1||||3||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs7287806|1361|1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-4949G>A|||||||rs7287806||1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-4949G>A|||||||rs7287806||1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-4949G>A|||||||rs7287806||1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-4949G>A|||||||rs7287806||1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-4949G>A|||||||rs7287806||1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+16286G>A|||||||rs7287806||1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-4949G>A|||||||rs7287806||1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-4949G>A|||||||rs7287806||1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-4949G>A|||||||rs7287806||1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+16286G>A|||||||rs7287806||1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs7287806|4700|1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-4949G>A|||||||rs7287806||1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-4611G>A|||||||rs7287806||1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-4611G>A|||||||rs7287806||1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-1660G>A|||||||rs7287806||1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-4876G>A|||||||rs7287806||1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs7287806|4956|1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs7287806|2724|1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs7287806|1272|1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs7287806|4700|1||||||||||||Ensembl||G|G||||chr22:g.28817023G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810433,ENST00000810434,ENST00000810435;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65091;gnomADv4_1_AC_joint_XX=33182;gnomADv4_1_AC_joint_XY=31909;gnomADv4_1_AF_grpmax_joint=0.675078;gnomADv4_1_AF_joint=0.428552;gnomADv4_1_AF_joint_XX=0.427295;gnomADv4_1_AF_joint_XY=0.429867;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151886;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16024;gnomADv4_1_nhomalt_joint_XX=8188;gnomADv4_1_nhomalt_joint_XY=7836;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28817046 chr22_28817046_A_G A G 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=11.96;CADD_Rawscore=1.16939;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+16309A>G|||||||rs28458474||1||||3||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs28458474|1249|1||||2||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-4926A>G|||||||rs28458474||1||||5||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-4926A>G|||||||rs28458474||1||||3||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs28458474|1384|1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-4926A>G|||||||rs28458474||1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-4926A>G|||||||rs28458474||1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-4926A>G|||||||rs28458474||1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-4926A>G|||||||rs28458474||1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-4926A>G|||||||rs28458474||1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+16309A>G|||||||rs28458474||1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-4926A>G|||||||rs28458474||1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-4926A>G|||||||rs28458474||1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-4926A>G|||||||rs28458474||1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+16309A>G|||||||rs28458474||1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs28458474|4677|1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-4926A>G|||||||rs28458474||1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-4588A>G|||||||rs28458474||1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-4588A>G|||||||rs28458474||1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-1637A>G|||||||rs28458474||1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-4853A>G|||||||rs28458474||1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs28458474|4933|1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs28458474|2747|1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs28458474|1249|1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs28458474|4677|1||||||||||||Ensembl||A|A||||chr22:g.28817046A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810433,ENST00000810434,ENST00000810435;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17458;gnomADv4_1_AC_joint_XX=8875;gnomADv4_1_AC_joint_XY=8583;gnomADv4_1_AF_grpmax_joint=0.279215;gnomADv4_1_AF_joint=0.114781;gnomADv4_1_AF_joint_XX=0.114151;gnomADv4_1_AF_joint_XY=0.11544;gnomADv4_1_AN_grpmax_joint=4792;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1171;gnomADv4_1_nhomalt_joint_XX=575;gnomADv4_1_nhomalt_joint_XY=596;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28817066 chr22_28817066_A_T A T 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=10.05;CADD_Rawscore=0.975514;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+16329A>T|||||||rs133441||1||||3||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs133441|1229|1||||2||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-4906A>T|||||||rs133441||1||||5||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-4906A>T|||||||rs133441||1||||3||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs133441|1404|1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-4906A>T|||||||rs133441||1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-4906A>T|||||||rs133441||1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-4906A>T|||||||rs133441||1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-4906A>T|||||||rs133441||1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-4906A>T|||||||rs133441||1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+16329A>T|||||||rs133441||1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-4906A>T|||||||rs133441||1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-4906A>T|||||||rs133441||1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-4906A>T|||||||rs133441||1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+16329A>T|||||||rs133441||1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs133441|4657|1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-4906A>T|||||||rs133441||1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-4568A>T|||||||rs133441||1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-4568A>T|||||||rs133441||1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-1617A>T|||||||rs133441||1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-4833A>T|||||||rs133441||1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs133441|4913|1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs133441|2767|1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs133441|1229|1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs133441|4657|1||||||||||||Ensembl||A|A||||chr22:g.28817066A>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810433,ENST00000810434,ENST00000810435;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25502;gnomADv4_1_AC_joint_XX=13420;gnomADv4_1_AC_joint_XY=12082;gnomADv4_1_AF_grpmax_joint=0.253995;gnomADv4_1_AF_joint=0.167865;gnomADv4_1_AF_joint_XX=0.172751;gnomADv4_1_AF_joint_XY=0.162751;gnomADv4_1_AN_grpmax_joint=67958;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2951;gnomADv4_1_nhomalt_joint_XX=1564;gnomADv4_1_nhomalt_joint_XY=1387;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28818183 chr22_28818183_A_ATG A ATG 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.291;CADDIndel_Rawscore=-0.329801;CSQ=TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+17467_34+17468dup|||||||rs35135244||1||||3||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs35135244|111|1||||2||||||||Ensembl|||||||chr22:g.28818204_28818205dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-3768_104-3767dup|||||||rs35135244||1||||5||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-3768_56-3767dup|||||||rs35135244||1||||3||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs35135244|2521|1||||||||||||Ensembl|||||||chr22:g.28818204_28818205dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-3768_61-3767dup|||||||rs35135244||1||||||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-3768_84-3767dup|||||||rs35135244||1||||||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-3768_59-3767dup|||||||rs35135244||1||||||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-3768_58-3767dup|||||||rs35135244||1||||||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-3768_55-3767dup|||||||rs35135244||1||||||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+17467_50+17468dup|||||||rs35135244||1||||||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-3768_51-3767dup|||||||rs35135244||1||||||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-3768_68-3767dup|||||||rs35135244||1||||||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-3768_56-3767dup|||||||rs35135244||1||||||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+17467_55+17468dup|||||||rs35135244||1||||||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs35135244|3539|1||||||||||||Ensembl|||||||chr22:g.28818204_28818205dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-3768_200-3767dup|||||||rs35135244||1||||||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-3430_59-3429dup|||||||rs35135244||1||||||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-3430_51-3429dup|||||||rs35135244||1||||||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-479_51-478dup|||||||rs35135244||1||||||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-3695_50-3694dup|||||||rs35135244||1||||||||||||Ensembl||||||22|chr22:g.28818204_28818205dup|||||||||||||,TG|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs35135244|3795|1||||||||||||Ensembl|||||||chr22:g.28818204_28818205dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs35135244|3884|1||||||||||||Ensembl|||||||chr22:g.28818204_28818205dup|||||||||||||,TG|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs35135244|111|1||||||||||||Ensembl|||||||chr22:g.28818204_28818205dup|||||||||||||,TG|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs35135244|3539|1||||||||||||Ensembl|||||||chr22:g.28818204_28818205dup|||||||||||||,TG|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FFSL|promoter||||||||||rs35135244|||||||||||||||||||||chr22:g.28818204_28818205dup|||||||||||||;TYPE=INDEL;VEP_Allele=TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810433,ENST00000810434,ENST00000810435,ENSR22_9FFSL;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27454;gnomADv4_1_AC_joint_XX=14156;gnomADv4_1_AC_joint_XY=13298;gnomADv4_1_AF_grpmax_joint=0.311413;gnomADv4_1_AF_joint=0.184766;gnomADv4_1_AF_joint_XX=0.185784;gnomADv4_1_AF_joint_XY=0.183694;gnomADv4_1_AN_grpmax_joint=4714;gnomADv4_1_AN_joint=148588;gnomADv4_1_AN_joint_XX=76196;gnomADv4_1_AN_joint_XY=72392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2656;gnomADv4_1_nhomalt_joint_XX=1365;gnomADv4_1_nhomalt_joint_XY=1291;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28818618 chr22_28818618_G_C G C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.078;CADD_Rawscore=0.001606;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+17881G>C|||||||rs2301428||1||||3||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||1/1|ENST00000422972.2:n.201+123G>C|||||||rs2301428||1||||2||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-3354G>C|||||||rs2301428||1||||5||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-3354G>C|||||||rs2301428||1||||3||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs2301428|2956|1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-3354G>C|||||||rs2301428||1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-3354G>C|||||||rs2301428||1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-3354G>C|||||||rs2301428||1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-3354G>C|||||||rs2301428||1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-3354G>C|||||||rs2301428||1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+17881G>C|||||||rs2301428||1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-3354G>C|||||||rs2301428||1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-3354G>C|||||||rs2301428||1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-3354G>C|||||||rs2301428||1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+17881G>C|||||||rs2301428||1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs2301428|3105|1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-3354G>C|||||||rs2301428||1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-3016G>C|||||||rs2301428||1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-3016G>C|||||||rs2301428||1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||1/2|ENST00000810430.1:n.51-65G>C|||||||rs2301428||1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-3281G>C|||||||rs2301428||1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs2301428|3361|1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810433|lncRNA||||||||||rs2301428|4319|1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||1/2|ENST00000810434.1:n.202-65G>C|||||||rs2301428||1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs2301428|3105|1||||||||||||Ensembl||G|G||||chr22:g.28818618G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4T7P|enhancer||||||||||rs2301428|||||||||||||||||||||chr22:g.28818618G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810433,ENST00000810434,ENST00000810435,ENSR22_C4T7P;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15713;gnomADv4_1_AC_joint_XX=7935;gnomADv4_1_AC_joint_XY=7778;gnomADv4_1_AF_grpmax_joint=0.280407;gnomADv4_1_AF_joint=0.103209;gnomADv4_1_AF_joint_XX=0.102008;gnomADv4_1_AF_joint_XY=0.104464;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152244;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74456;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1102;gnomADv4_1_nhomalt_joint_XX=532;gnomADv4_1_nhomalt_joint_XY=570;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28819554 chr22_28819554_G_A G A 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=17.34;CADD_Rawscore=2.12761;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+18817G>A|||||||rs763073||1||||3||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||1/1|ENST00000422972.2:n.201+1059G>A|||||||rs763073||1||||2||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-2418G>A|||||||rs763073||1||||5||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-2418G>A|||||||rs763073||1||||3||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs763073|3892|1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-2418G>A|||||||rs763073||1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-2418G>A|||||||rs763073||1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-2418G>A|||||||rs763073||1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-2418G>A|||||||rs763073||1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-2418G>A|||||||rs763073||1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+18817G>A|||||||rs763073||1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-2418G>A|||||||rs763073||1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-2418G>A|||||||rs763073||1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-2418G>A|||||||rs763073||1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+18817G>A|||||||rs763073||1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs763073|2169|1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-2418G>A|||||||rs763073||1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-2080G>A|||||||rs763073||1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-2080G>A|||||||rs763073||1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||2/2|ENST00000810430.1:n.118+804G>A|||||||rs763073||1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-2345G>A|||||||rs763073||1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs763073|2425|1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||2/2|ENST00000810434.1:n.269+804G>A|||||||rs763073||1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs763073|2169|1||||||||||||Ensembl||G|G||||chr22:g.28819554G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4T7P|enhancer||||||||||rs763073|||||||||||||||||||||chr22:g.28819554G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435,ENSR22_C4T7P;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66681;gnomADv4_1_AC_joint_XX=34005;gnomADv4_1_AC_joint_XY=32676;gnomADv4_1_AF_grpmax_joint=0.691003;gnomADv4_1_AF_joint=0.438339;gnomADv4_1_AF_joint_XX=0.437408;gnomADv4_1_AF_joint_XY=0.439312;gnomADv4_1_AN_grpmax_joint=41502;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17005;gnomADv4_1_nhomalt_joint_XX=8685;gnomADv4_1_nhomalt_joint_XY=8320;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28819715 chr22_28819715_G_A G A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=16.99;CADD_Rawscore=2.05154;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.34+18978G>A|||||||rs16987027||1||||3||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||1/1|ENST00000422972.2:n.201+1220G>A|||||||rs16987027||1||||2||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-2257G>A|||||||rs16987027||1||||5||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-2257G>A|||||||rs16987027||1||||3||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs16987027|4053|1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-2257G>A|||||||rs16987027||1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-2257G>A|||||||rs16987027||1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-2257G>A|||||||rs16987027||1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-2257G>A|||||||rs16987027||1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-2257G>A|||||||rs16987027||1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+18978G>A|||||||rs16987027||1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-2257G>A|||||||rs16987027||1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-2257G>A|||||||rs16987027||1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-2257G>A|||||||rs16987027||1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+18978G>A|||||||rs16987027||1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs16987027|2008|1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-2257G>A|||||||rs16987027||1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-1919G>A|||||||rs16987027||1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-1919G>A|||||||rs16987027||1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||2/2|ENST00000810430.1:n.118+965G>A|||||||rs16987027||1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-2184G>A|||||||rs16987027||1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs16987027|2264|1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||2/2|ENST00000810434.1:n.269+965G>A|||||||rs16987027||1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs16987027|2008|1||||||||||||Ensembl||G|G||||chr22:g.28819715G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4T7P|enhancer||||||||||rs16987027|||||||||||||||||||||chr22:g.28819715G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435,ENSR22_C4T7P;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17651;gnomADv4_1_AC_joint_XX=8968;gnomADv4_1_AC_joint_XY=8683;gnomADv4_1_AF_grpmax_joint=0.283907;gnomADv4_1_AF_joint=0.115936;gnomADv4_1_AF_joint_XX=0.115258;gnomADv4_1_AF_joint_XY=0.116644;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152248;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1200;gnomADv4_1_nhomalt_joint_XX=591;gnomADv4_1_nhomalt_joint_XY=609;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28819815 chr22_28819815_G_A G A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=5.593;CADD_Rawscore=0.512671;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-19045G>A|||||||rs66471734||1||||3||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||1/1|ENST00000422972.2:n.201+1320G>A|||||||rs66471734||1||||2||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-2157G>A|||||||rs66471734||1||||5||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-2157G>A|||||||rs66471734||1||||3||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs66471734|4153|1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-2157G>A|||||||rs66471734||1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-2157G>A|||||||rs66471734||1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-2157G>A|||||||rs66471734||1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-2157G>A|||||||rs66471734||1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-2157G>A|||||||rs66471734||1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+19078G>A|||||||rs66471734||1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-2157G>A|||||||rs66471734||1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-2157G>A|||||||rs66471734||1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-2157G>A|||||||rs66471734||1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+19078G>A|||||||rs66471734||1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs66471734|1908|1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-2157G>A|||||||rs66471734||1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-1819G>A|||||||rs66471734||1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-1819G>A|||||||rs66471734||1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||2/2|ENST00000810430.1:n.118+1065G>A|||||||rs66471734||1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-2084G>A|||||||rs66471734||1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs66471734|2164|1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||2/2|ENST00000810434.1:n.269+1065G>A|||||||rs66471734||1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs66471734|1908|1||||||||||||Ensembl||G|G||||chr22:g.28819815G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4T7P|enhancer||||||||||rs66471734|||||||||||||||||||||chr22:g.28819815G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435,ENSR22_C4T7P;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17520;gnomADv4_1_AC_joint_XX=8900;gnomADv4_1_AC_joint_XY=8620;gnomADv4_1_AF_grpmax_joint=0.280199;gnomADv4_1_AF_joint=0.115086;gnomADv4_1_AF_joint_XX=0.11439;gnomADv4_1_AF_joint_XY=0.115814;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152234;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1183;gnomADv4_1_nhomalt_joint_XX=579;gnomADv4_1_nhomalt_joint_XY=604;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28820173 chr22_28820173_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=6.906;CADD_Rawscore=0.647934;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-18687A>G|||||||rs129587||1||||3||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||1/1|ENST00000422972.2:n.201+1678A>G|||||||rs129587||1||||2||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-1799A>G|||||||rs129587||1||||5||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-1799A>G|||||||rs129587||1||||3||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs129587|4511|1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-1799A>G|||||||rs129587||1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-1799A>G|||||||rs129587||1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-1799A>G|||||||rs129587||1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-1799A>G|||||||rs129587||1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-1799A>G|||||||rs129587||1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+19436A>G|||||||rs129587||1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-1799A>G|||||||rs129587||1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-1799A>G|||||||rs129587||1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-1799A>G|||||||rs129587||1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+19436A>G|||||||rs129587||1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs129587|1550|1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-1799A>G|||||||rs129587||1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-1461A>G|||||||rs129587||1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-1461A>G|||||||rs129587||1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||2/2|ENST00000810430.1:n.118+1423A>G|||||||rs129587||1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-1726A>G|||||||rs129587||1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs129587|1806|1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||2/2|ENST00000810434.1:n.269+1423A>G|||||||rs129587||1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs129587|1550|1||||||||||||Ensembl||A|A||||chr22:g.28820173A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=147437;gnomADv4_1_AC_joint_XX=75200;gnomADv4_1_AC_joint_XY=72237;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.968006;gnomADv4_1_AF_joint_XX=0.966159;gnomADv4_1_AF_joint_XY=0.969937;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152310;gnomADv4_1_AN_joint_XX=77834;gnomADv4_1_AN_joint_XY=74476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=71401;gnomADv4_1_nhomalt_joint_XX=36353;gnomADv4_1_nhomalt_joint_XY=35048;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28820597 chr22_28820597_C_T C T 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.473;CADD_Rawscore=-0.206825;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-18263C>T|||||||rs35017742||1||||3||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||1/1|ENST00000422972.2:n.202-1375C>T|||||||rs35017742||1||||2||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-1375C>T|||||||rs35017742||1||||5||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-1375C>T|||||||rs35017742||1||||3||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs35017742|4935|1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-1375C>T|||||||rs35017742||1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-1375C>T|||||||rs35017742||1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-1375C>T|||||||rs35017742||1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-1375C>T|||||||rs35017742||1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-1375C>T|||||||rs35017742||1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+19860C>T|||||||rs35017742||1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-1375C>T|||||||rs35017742||1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-1375C>T|||||||rs35017742||1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-1375C>T|||||||rs35017742||1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+19860C>T|||||||rs35017742||1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs35017742|1126|1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-1375C>T|||||||rs35017742||1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-1037C>T|||||||rs35017742||1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-1037C>T|||||||rs35017742||1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||2/2|ENST00000810430.1:n.119-1375C>T|||||||rs35017742||1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-1302C>T|||||||rs35017742||1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs35017742|1382|1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||2/2|ENST00000810434.1:n.270-1375C>T|||||||rs35017742||1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs35017742|1126|1||||||||||||Ensembl||C|C||||chr22:g.28820597C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15949;gnomADv4_1_AC_joint_XX=8085;gnomADv4_1_AC_joint_XY=7864;gnomADv4_1_AF_grpmax_joint=0.279859;gnomADv4_1_AF_joint=0.104882;gnomADv4_1_AF_joint_XX=0.103998;gnomADv4_1_AF_joint_XY=0.105807;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1098;gnomADv4_1_nhomalt_joint_XX=534;gnomADv4_1_nhomalt_joint_XY=564;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28820615 chr22_28820615_G_A G A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.443;CADD_Rawscore=-0.223571;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-18245G>A|||||||rs35259224||1||||3||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||1/1|ENST00000422972.2:n.202-1357G>A|||||||rs35259224||1||||2||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-1357G>A|||||||rs35259224||1||||5||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-1357G>A|||||||rs35259224||1||||3||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000272858|Transcript|ENST00000607919|lncRNA||||||||||rs35259224|4953|1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-1357G>A|||||||rs35259224||1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-1357G>A|||||||rs35259224||1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-1357G>A|||||||rs35259224||1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-1357G>A|||||||rs35259224||1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-1357G>A|||||||rs35259224||1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+19878G>A|||||||rs35259224||1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-1357G>A|||||||rs35259224||1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-1357G>A|||||||rs35259224||1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-1357G>A|||||||rs35259224||1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+19878G>A|||||||rs35259224||1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs35259224|1108|1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-1357G>A|||||||rs35259224||1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-1019G>A|||||||rs35259224||1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-1019G>A|||||||rs35259224||1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||2/2|ENST00000810430.1:n.119-1357G>A|||||||rs35259224||1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-1284G>A|||||||rs35259224||1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs35259224|1364|1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||2/2|ENST00000810434.1:n.270-1357G>A|||||||rs35259224||1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs35259224|1108|1||||||||||||Ensembl||G|G||||chr22:g.28820615G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000607919,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000272858,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60509;gnomADv4_1_AC_joint_XX=30720;gnomADv4_1_AC_joint_XY=29789;gnomADv4_1_AF_grpmax_joint=0.673597;gnomADv4_1_AF_joint=0.398358;gnomADv4_1_AF_joint_XX=0.39553;gnomADv4_1_AF_joint_XY=0.401318;gnomADv4_1_AN_grpmax_joint=5098;gnomADv4_1_AN_joint=151896;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13332;gnomADv4_1_nhomalt_joint_XX=6724;gnomADv4_1_nhomalt_joint_XY=6608;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28820734 chr22_28820734_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.039;CADD_Rawscore=-0.867333;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-18126C>T|||||||rs34923414||1||||3||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||1/1|ENST00000422972.2:n.202-1238C>T|||||||rs34923414||1||||2||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-1238C>T|||||||rs34923414||1||||5||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-1238C>T|||||||rs34923414||1||||3||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-1238C>T|||||||rs34923414||1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-1238C>T|||||||rs34923414||1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-1238C>T|||||||rs34923414||1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-1238C>T|||||||rs34923414||1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-1238C>T|||||||rs34923414||1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+19997C>T|||||||rs34923414||1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-1238C>T|||||||rs34923414||1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-1238C>T|||||||rs34923414||1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-1238C>T|||||||rs34923414||1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+19997C>T|||||||rs34923414||1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs34923414|989|1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-1238C>T|||||||rs34923414||1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-900C>T|||||||rs34923414||1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-900C>T|||||||rs34923414||1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||2/2|ENST00000810430.1:n.119-1238C>T|||||||rs34923414||1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-1165C>T|||||||rs34923414||1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs34923414|1245|1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||2/2|ENST00000810434.1:n.270-1238C>T|||||||rs34923414||1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs34923414|989|1||||||||||||Ensembl||C|C||||chr22:g.28820734C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=101904;gnomADv4_1_AC_joint_XX=51550;gnomADv4_1_AC_joint_XY=50354;gnomADv4_1_AF_grpmax_joint=0.998443;gnomADv4_1_AF_joint=0.670306;gnomADv4_1_AF_joint_XX=0.663227;gnomADv4_1_AF_joint_XY=0.677712;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=152026;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=36748;gnomADv4_1_nhomalt_joint_XX=18458;gnomADv4_1_nhomalt_joint_XY=18290;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28820788 chr22_28820788_G_A G A 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.166;CADD_Rawscore=0.185078;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-18072G>A|||||||rs5762819||1||||3||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||1/1|ENST00000422972.2:n.202-1184G>A|||||||rs5762819||1||||2||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-1184G>A|||||||rs5762819||1||||5||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-1184G>A|||||||rs5762819||1||||3||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-1184G>A|||||||rs5762819||1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-1184G>A|||||||rs5762819||1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-1184G>A|||||||rs5762819||1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-1184G>A|||||||rs5762819||1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-1184G>A|||||||rs5762819||1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+20051G>A|||||||rs5762819||1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-1184G>A|||||||rs5762819||1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-1184G>A|||||||rs5762819||1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-1184G>A|||||||rs5762819||1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+20051G>A|||||||rs5762819||1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs5762819|935|1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-1184G>A|||||||rs5762819||1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-846G>A|||||||rs5762819||1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-846G>A|||||||rs5762819||1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||2/2|ENST00000810430.1:n.119-1184G>A|||||||rs5762819||1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-1111G>A|||||||rs5762819||1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs5762819|1191|1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||2/2|ENST00000810434.1:n.270-1184G>A|||||||rs5762819||1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs5762819|935|1||||||||||||Ensembl||G|G||||chr22:g.28820788G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17515;gnomADv4_1_AC_joint_XX=8902;gnomADv4_1_AC_joint_XY=8613;gnomADv4_1_AF_grpmax_joint=0.280382;gnomADv4_1_AF_joint=0.115085;gnomADv4_1_AF_joint_XX=0.114416;gnomADv4_1_AF_joint_XY=0.115785;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152192;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1183;gnomADv4_1_nhomalt_joint_XX=580;gnomADv4_1_nhomalt_joint_XY=603;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28820825 chr22_28820825_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.467;CADD_Rawscore=-0.210454;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-18035C>T|||||||rs5762820||1||||3||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||1/1|ENST00000422972.2:n.202-1147C>T|||||||rs5762820||1||||2||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-1147C>T|||||||rs5762820||1||||5||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-1147C>T|||||||rs5762820||1||||3||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-1147C>T|||||||rs5762820||1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-1147C>T|||||||rs5762820||1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-1147C>T|||||||rs5762820||1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-1147C>T|||||||rs5762820||1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-1147C>T|||||||rs5762820||1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+20088C>T|||||||rs5762820||1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-1147C>T|||||||rs5762820||1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-1147C>T|||||||rs5762820||1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-1147C>T|||||||rs5762820||1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+20088C>T|||||||rs5762820||1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs5762820|898|1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-1147C>T|||||||rs5762820||1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-809C>T|||||||rs5762820||1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-809C>T|||||||rs5762820||1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||2/2|ENST00000810430.1:n.119-1147C>T|||||||rs5762820||1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-1074C>T|||||||rs5762820||1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs5762820|1154|1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||2/2|ENST00000810434.1:n.270-1147C>T|||||||rs5762820||1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs5762820|898|1||||||||||||Ensembl||C|C||||chr22:g.28820825C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17497;gnomADv4_1_AC_joint_XX=8890;gnomADv4_1_AC_joint_XY=8607;gnomADv4_1_AF_grpmax_joint=0.280523;gnomADv4_1_AF_joint=0.115076;gnomADv4_1_AF_joint_XX=0.11435;gnomADv4_1_AF_joint_XY=0.115835;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1178;gnomADv4_1_nhomalt_joint_XX=577;gnomADv4_1_nhomalt_joint_XY=601;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28821380 chr22_28821380_C_CT C CT 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.071;CADDIndel_Rawscore=-0.703945;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-17468dup|||||||rs35643996||1||||3||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||1/1|ENST00000422972.2:n.202-580dup|||||||rs35643996||1||||2||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||1/1|ENST00000451486.5:n.104-580dup|||||||rs35643996||1||||5||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||1/3|ENST00000458080.2:n.56-580dup|||||||rs35643996||1||||3||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||1/2|ENST00000687270.2:n.61-580dup|||||||rs35643996||1||||||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||1/1|ENST00000692644.2:n.84-580dup|||||||rs35643996||1||||||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||1/3|ENST00000810418.1:n.59-580dup|||||||rs35643996||1||||||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||1/2|ENST00000810419.1:n.58-580dup|||||||rs35643996||1||||||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||1/5|ENST00000810420.1:n.55-580dup|||||||rs35643996||1||||||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+20655dup|||||||rs35643996||1||||||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||1/4|ENST00000810422.1:n.51-580dup|||||||rs35643996||1||||||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||1/2|ENST00000810423.1:n.68-580dup|||||||rs35643996||1||||||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||1/3|ENST00000810424.1:n.56-580dup|||||||rs35643996||1||||||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.55+20655dup|||||||rs35643996||1||||||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs35643996|342|1||||||||||||Ensembl|||||||chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||2/2|ENST00000810427.1:n.200-580dup|||||||rs35643996||1||||||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||1/2|ENST00000810428.1:n.59-242dup|||||||rs35643996||1||||||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||1/1|ENST00000810429.1:n.51-242dup|||||||rs35643996||1||||||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||2/2|ENST00000810430.1:n.119-580dup|||||||rs35643996||1||||||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||1/1|ENST00000810431.1:n.50-507dup|||||||rs35643996||1||||||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs35643996|598|1||||||||||||Ensembl|||||||chr22:g.28821392dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||2/2|ENST00000810434.1:n.270-580dup|||||||rs35643996||1||||||||||||Ensembl||||||12|chr22:g.28821392dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs35643996|342|1||||||||||||Ensembl|||||||chr22:g.28821392dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16674;gnomADv4_1_AC_joint_XX=8609;gnomADv4_1_AC_joint_XY=8065;gnomADv4_1_AF_grpmax_joint=0.279178;gnomADv4_1_AF_joint=0.116215;gnomADv4_1_AF_joint_XX=0.116294;gnomADv4_1_AF_joint_XY=0.11613;gnomADv4_1_AN_grpmax_joint=4524;gnomADv4_1_AN_joint=143476;gnomADv4_1_AN_joint_XX=74028;gnomADv4_1_AN_joint_XY=69448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1109;gnomADv4_1_nhomalt_joint_XX=556;gnomADv4_1_nhomalt_joint_XY=553;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28823484 chr22_28823484_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.869;CADD_Rawscore=0.146044;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-15376G>A|||||||rs5762821||1||||3||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs5762821|1264|1||||2||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs5762821|1269|1||||5||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+1305G>A|||||||rs5762821||1||||3||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+1305G>A|||||||rs5762821||1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs5762821|1259|1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+1305G>A|||||||rs5762821||1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+1305G>A|||||||rs5762821||1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+1305G>A|||||||rs5762821||1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+22747G>A|||||||rs5762821||1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+1305G>A|||||||rs5762821||1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+1305G>A|||||||rs5762821||1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+1305G>A|||||||rs5762821||1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-20643G>A|||||||rs5762821||1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+1305G>A|||||||rs5762821||1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs5762821|1261|1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs5762821|1261|1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs5762821|1266|1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs5762821|1269|1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs5762821|1269|1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+1305G>A|||||||rs5762821||1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs5762821|1261|1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs5762821|1267|1||||||||||||Ensembl||G|G||||chr22:g.28823484G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4T82|enhancer||||||||||rs5762821|||||||||||||||||||||chr22:g.28823484G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435,ENSR22_C4T82;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17500;gnomADv4_1_AC_joint_XX=8891;gnomADv4_1_AC_joint_XY=8609;gnomADv4_1_AF_grpmax_joint=0.280108;gnomADv4_1_AF_joint=0.115133;gnomADv4_1_AF_joint_XX=0.114386;gnomADv4_1_AF_joint_XY=0.115915;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1181;gnomADv4_1_nhomalt_joint_XX=577;gnomADv4_1_nhomalt_joint_XY=604;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28823577 chr22_28823577_TACAC_T TACAC T 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.667;CADDIndel_Rawscore=-0.121143;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-15258_35-15255del|||||||rs3029462||1||||3||||||||Ensembl||ACAC|ACAC|||24|chr22:g.28823602_28823605del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs3029462|1358|1||||2||||||||Ensembl||ACAC|ACAC||||chr22:g.28823602_28823605del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs3029462|1363|1||||5||||||||Ensembl||ACAC|ACAC||||chr22:g.28823602_28823605del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+1423_263+1426del|||||||rs3029462||1||||3||||||||Ensembl||ACAC|ACAC|||24|chr22:g.28823602_28823605del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+1423_268+1426del|||||||rs3029462||1||||||||||||Ensembl||ACAC|ACAC|||24|chr22:g.28823602_28823605del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs3029462|1353|1||||||||||||Ensembl||ACAC|ACAC||||chr22:g.28823602_28823605del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+1423_266+1426del|||||||rs3029462||1||||||||||||Ensembl||ACAC|ACAC|||24|chr22:g.28823602_28823605del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+1423_265+1426del|||||||rs3029462||1||||||||||||Ensembl||ACAC|ACAC|||24|chr22:g.28823602_28823605del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+1423_262+1426del|||||||rs3029462||1||||||||||||Ensembl||ACAC|ACAC|||24|chr22:g.28823602_28823605del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+22865_50+22868del|||||||rs3029462||1||||||||||||Ensembl||ACAC|ACAC|||24|chr22:g.28823602_28823605del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+1423_258+1426del|||||||rs3029462||1||||||||||||Ensembl||ACAC|ACAC|||24|chr22:g.28823602_28823605del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+1423_275+1426del|||||||rs3029462||1||||||||||||Ensembl||ACAC|ACAC|||24|chr22:g.28823602_28823605del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+1423_263+1426del|||||||rs3029462||1||||||||||||Ensembl||ACAC|ACAC|||24|chr22:g.28823602_28823605del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-20525_56-20522del|||||||rs3029462||1||||||||||||Ensembl||ACAC|ACAC|||24|chr22:g.28823602_28823605del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+1423_315+1426del|||||||rs3029462||1||||||||||||Ensembl||ACAC|ACAC|||24|chr22:g.28823602_28823605del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs3029462|1355|1||||||||||||Ensembl||ACAC|ACAC||||chr22:g.28823602_28823605del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs3029462|1355|1||||||||||||Ensembl||ACAC|ACAC||||chr22:g.28823602_28823605del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs3029462|1360|1||||||||||||Ensembl||ACAC|ACAC||||chr22:g.28823602_28823605del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs3029462|1363|1||||||||||||Ensembl||ACAC|ACAC||||chr22:g.28823602_28823605del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs3029462|1363|1||||||||||||Ensembl||ACAC|ACAC||||chr22:g.28823602_28823605del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+1423_201+1426del|||||||rs3029462||1||||||||||||Ensembl||ACAC|ACAC|||24|chr22:g.28823602_28823605del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs3029462|1355|1||||||||||||Ensembl||ACAC|ACAC||||chr22:g.28823602_28823605del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs3029462|1361|1||||||||||||Ensembl||ACAC|ACAC||||chr22:g.28823602_28823605del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4T82|enhancer||||||||||rs3029462|||||||||||||||||||||chr22:g.28823602_28823605del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435,ENSR22_C4T82;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17522;gnomADv4_1_AC_joint_XX=8905;gnomADv4_1_AC_joint_XY=8617;gnomADv4_1_AF_grpmax_joint=0.284376;gnomADv4_1_AF_joint=0.118082;gnomADv4_1_AF_joint_XX=0.116977;gnomADv4_1_AF_joint_XY=0.119247;gnomADv4_1_AN_grpmax_joint=4698;gnomADv4_1_AN_joint=148388;gnomADv4_1_AN_joint_XX=76126;gnomADv4_1_AN_joint_XY=72262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1132;gnomADv4_1_nhomalt_joint_XX=561;gnomADv4_1_nhomalt_joint_XY=571;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28823613 chr22_28823613_A_G A G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.685;CADD_Rawscore=0.118616;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-15247A>G|||||||rs5762822||1||||3||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs5762822|1393|1||||2||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs5762822|1398|1||||5||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+1434A>G|||||||rs5762822||1||||3||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+1434A>G|||||||rs5762822||1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs5762822|1388|1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+1434A>G|||||||rs5762822||1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+1434A>G|||||||rs5762822||1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+1434A>G|||||||rs5762822||1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+22876A>G|||||||rs5762822||1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+1434A>G|||||||rs5762822||1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+1434A>G|||||||rs5762822||1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+1434A>G|||||||rs5762822||1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-20514A>G|||||||rs5762822||1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+1434A>G|||||||rs5762822||1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs5762822|1390|1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs5762822|1390|1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs5762822|1395|1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs5762822|1398|1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs5762822|1398|1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+1434A>G|||||||rs5762822||1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs5762822|1390|1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs5762822|1396|1||||||||||||Ensembl||A|A||||chr22:g.28823613A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4T82|enhancer||||||||||rs5762822|||||||||||||||||||||chr22:g.28823613A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435,ENSR22_C4T82;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17465;gnomADv4_1_AC_joint_XX=8881;gnomADv4_1_AC_joint_XY=8584;gnomADv4_1_AF_grpmax_joint=0.280808;gnomADv4_1_AF_joint=0.115163;gnomADv4_1_AF_joint_XX=0.114517;gnomADv4_1_AF_joint_XY=0.11584;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=151654;gnomADv4_1_AN_joint_XX=77552;gnomADv4_1_AN_joint_XY=74102;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1168;gnomADv4_1_nhomalt_joint_XX=575;gnomADv4_1_nhomalt_joint_XY=593;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28824495 chr22_28824495_G_T G T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.846;CADD_Rawscore=-0.060807;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-14365G>T|||||||rs5752806||1||||3||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs5752806|2275|1||||2||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs5752806|2280|1||||5||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+2316G>T|||||||rs5752806||1||||3||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+2316G>T|||||||rs5752806||1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs5752806|2270|1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+2316G>T|||||||rs5752806||1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+2316G>T|||||||rs5752806||1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+2316G>T|||||||rs5752806||1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.50+23758G>T|||||||rs5752806||1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+2316G>T|||||||rs5752806||1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+2316G>T|||||||rs5752806||1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+2316G>T|||||||rs5752806||1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-19632G>T|||||||rs5752806||1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+2316G>T|||||||rs5752806||1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs5752806|2272|1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs5752806|2272|1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs5752806|2277|1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs5752806|2280|1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs5752806|2280|1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+2316G>T|||||||rs5752806||1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs5752806|2272|1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs5752806|2278|1||||||||||||Ensembl||G|G||||chr22:g.28824495G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15968;gnomADv4_1_AC_joint_XX=8085;gnomADv4_1_AC_joint_XY=7883;gnomADv4_1_AF_grpmax_joint=0.279577;gnomADv4_1_AF_joint=0.104942;gnomADv4_1_AF_joint_XX=0.103934;gnomADv4_1_AF_joint_XY=0.105997;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1097;gnomADv4_1_nhomalt_joint_XX=531;gnomADv4_1_nhomalt_joint_XY=566;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28824770 chr22_28824770_C_G C G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.548;CADD_Rawscore=-0.170422;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-14090C>G|||||||rs5762823||1||||3||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs5762823|2550|1||||2||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs5762823|2555|1||||5||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+2591C>G|||||||rs5762823||1||||3||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+2591C>G|||||||rs5762823||1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs5762823|2545|1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+2591C>G|||||||rs5762823||1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+2591C>G|||||||rs5762823||1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+2591C>G|||||||rs5762823||1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-23621C>G|||||||rs5762823||1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+2591C>G|||||||rs5762823||1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+2591C>G|||||||rs5762823||1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+2591C>G|||||||rs5762823||1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-19357C>G|||||||rs5762823||1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+2591C>G|||||||rs5762823||1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs5762823|2547|1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs5762823|2547|1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs5762823|2552|1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs5762823|2555|1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs5762823|2555|1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+2591C>G|||||||rs5762823||1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs5762823|2547|1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs5762823|2553|1||||||||||||Ensembl||C|C||||chr22:g.28824770C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17518;gnomADv4_1_AC_joint_XX=8893;gnomADv4_1_AC_joint_XY=8625;gnomADv4_1_AF_grpmax_joint=0.279992;gnomADv4_1_AF_joint=0.115226;gnomADv4_1_AF_joint_XX=0.114459;gnomADv4_1_AF_joint_XY=0.116027;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1180;gnomADv4_1_nhomalt_joint_XX=577;gnomADv4_1_nhomalt_joint_XY=603;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28826108 chr22_28826108_T_C T C 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.135;CADD_Rawscore=-0.531276;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-12752T>C|||||||rs5997409||1||||3||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs5997409|3888|1||||2||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs5997409|3893|1||||5||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+3929T>C|||||||rs5997409||1||||3||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+3929T>C|||||||rs5997409||1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs5997409|3883|1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+3929T>C|||||||rs5997409||1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+3929T>C|||||||rs5997409||1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+3929T>C|||||||rs5997409||1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-22283T>C|||||||rs5997409||1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+3929T>C|||||||rs5997409||1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+3929T>C|||||||rs5997409||1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+3929T>C|||||||rs5997409||1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-18019T>C|||||||rs5997409||1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+3929T>C|||||||rs5997409||1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs5997409|3885|1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs5997409|3885|1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs5997409|3890|1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs5997409|3893|1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs5997409|3893|1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+3929T>C|||||||rs5997409||1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs5997409|3885|1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs5997409|3891|1||||||||||||Ensembl||T|T||||chr22:g.28826108T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24599;gnomADv4_1_AC_joint_XX=12185;gnomADv4_1_AC_joint_XY=12414;gnomADv4_1_AF_grpmax_joint=0.385525;gnomADv4_1_AF_joint=0.16175;gnomADv4_1_AF_joint_XX=0.156748;gnomADv4_1_AF_joint_XY=0.166981;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2226;gnomADv4_1_nhomalt_joint_XX=1062;gnomADv4_1_nhomalt_joint_XY=1164;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28826275 chr22_28826275_A_G A G 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=13.44;CADD_Rawscore=1.38036;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-12585A>G|||||||rs5997410||1||||3||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs5997410|4055|1||||2||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs5997410|4060|1||||5||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+4096A>G|||||||rs5997410||1||||3||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+4096A>G|||||||rs5997410||1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs5997410|4050|1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+4096A>G|||||||rs5997410||1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+4096A>G|||||||rs5997410||1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+4096A>G|||||||rs5997410||1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-22116A>G|||||||rs5997410||1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+4096A>G|||||||rs5997410||1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+4096A>G|||||||rs5997410||1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+4096A>G|||||||rs5997410||1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-17852A>G|||||||rs5997410||1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+4096A>G|||||||rs5997410||1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs5997410|4052|1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs5997410|4052|1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs5997410|4057|1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs5997410|4060|1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs5997410|4060|1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+4096A>G|||||||rs5997410||1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs5997410|4052|1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs5997410|4058|1||||||||||||Ensembl||A|A||||chr22:g.28826275A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22319;gnomADv4_1_AC_joint_XX=11006;gnomADv4_1_AC_joint_XY=11313;gnomADv4_1_AF_grpmax_joint=0.384296;gnomADv4_1_AF_joint=0.146681;gnomADv4_1_AF_joint_XX=0.141509;gnomADv4_1_AF_joint_XY=0.152089;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1985;gnomADv4_1_nhomalt_joint_XX=939;gnomADv4_1_nhomalt_joint_XY=1046;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28826942 chr22_28826942_C_T C T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.434;CADD_Rawscore=-0.228749;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-11918C>T|||||||rs5762824||1||||3||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs5762824|4722|1||||2||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs5762824|4727|1||||5||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+4763C>T|||||||rs5762824||1||||3||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+4763C>T|||||||rs5762824||1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs5762824|4717|1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+4763C>T|||||||rs5762824||1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+4763C>T|||||||rs5762824||1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+4763C>T|||||||rs5762824||1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-21449C>T|||||||rs5762824||1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+4763C>T|||||||rs5762824||1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+4763C>T|||||||rs5762824||1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+4763C>T|||||||rs5762824||1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-17185C>T|||||||rs5762824||1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+4763C>T|||||||rs5762824||1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs5762824|4719|1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs5762824|4719|1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs5762824|4724|1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs5762824|4727|1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs5762824|4727|1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+4763C>T|||||||rs5762824||1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs5762824|4719|1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs5762824|4725|1||||||||||||Ensembl||C|C||||chr22:g.28826942C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60539;gnomADv4_1_AC_joint_XX=30750;gnomADv4_1_AC_joint_XY=29789;gnomADv4_1_AF_grpmax_joint=0.674951;gnomADv4_1_AF_joint=0.398409;gnomADv4_1_AF_joint_XX=0.395692;gnomADv4_1_AF_joint_XY=0.401253;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151952;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13352;gnomADv4_1_nhomalt_joint_XX=6740;gnomADv4_1_nhomalt_joint_XY=6612;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28827181 chr22_28827181_A_G A G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=2.923;CADD_Rawscore=0.267049;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-11679A>G|||||||rs5752807||1||||3||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000422972|lncRNA||||||||||rs5752807|4961|1||||2||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000451486|lncRNA||||||||||rs5752807|4966|1||||5||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+5002A>G|||||||rs5752807||1||||3||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+5002A>G|||||||rs5752807||1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000692644|lncRNA||||||||||rs5752807|4956|1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+5002A>G|||||||rs5752807||1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+5002A>G|||||||rs5752807||1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+5002A>G|||||||rs5752807||1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-21210A>G|||||||rs5752807||1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+5002A>G|||||||rs5752807||1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+5002A>G|||||||rs5752807||1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+5002A>G|||||||rs5752807||1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-16946A>G|||||||rs5752807||1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+5002A>G|||||||rs5752807||1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810427|lncRNA||||||||||rs5752807|4958|1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810428|lncRNA||||||||||rs5752807|4958|1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810429|lncRNA||||||||||rs5752807|4963|1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810430|lncRNA||||||||||rs5752807|4966|1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810431|lncRNA||||||||||rs5752807|4966|1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+5002A>G|||||||rs5752807||1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810434|lncRNA||||||||||rs5752807|4958|1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810435|lncRNA||||||||||rs5752807|4964|1||||||||||||Ensembl||A|A||||chr22:g.28827181A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000422972,ENST00000451486,ENST00000458080,ENST00000687270,ENST00000692644,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810427,ENST00000810428,ENST00000810429,ENST00000810430,ENST00000810431,ENST00000810432,ENST00000810434,ENST00000810435;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60376;gnomADv4_1_AC_joint_XX=30669;gnomADv4_1_AC_joint_XY=29707;gnomADv4_1_AF_grpmax_joint=0.675272;gnomADv4_1_AF_joint=0.398716;gnomADv4_1_AF_joint_XX=0.395607;gnomADv4_1_AF_joint_XY=0.401978;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151426;gnomADv4_1_AN_joint_XX=77524;gnomADv4_1_AN_joint_XY=73902;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13304;gnomADv4_1_nhomalt_joint_XX=6717;gnomADv4_1_nhomalt_joint_XY=6587;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28827310 chr22_28827310_G_C G C 59 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=2.946;CADD_Rawscore=0.269251;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-11550G>C|||||||rs5752808||1||||3||||||||Ensembl||G|G||||chr22:g.28827310G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+5131G>C|||||||rs5752808||1||||3||||||||Ensembl||G|G||||chr22:g.28827310G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+5131G>C|||||||rs5752808||1||||||||||||Ensembl||G|G||||chr22:g.28827310G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+5131G>C|||||||rs5752808||1||||||||||||Ensembl||G|G||||chr22:g.28827310G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+5131G>C|||||||rs5752808||1||||||||||||Ensembl||G|G||||chr22:g.28827310G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+5131G>C|||||||rs5752808||1||||||||||||Ensembl||G|G||||chr22:g.28827310G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-21081G>C|||||||rs5752808||1||||||||||||Ensembl||G|G||||chr22:g.28827310G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+5131G>C|||||||rs5752808||1||||||||||||Ensembl||G|G||||chr22:g.28827310G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+5131G>C|||||||rs5752808||1||||||||||||Ensembl||G|G||||chr22:g.28827310G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+5131G>C|||||||rs5752808||1||||||||||||Ensembl||G|G||||chr22:g.28827310G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-16817G>C|||||||rs5752808||1||||||||||||Ensembl||G|G||||chr22:g.28827310G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+5131G>C|||||||rs5752808||1||||||||||||Ensembl||G|G||||chr22:g.28827310G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+5131G>C|||||||rs5752808||1||||||||||||Ensembl||G|G||||chr22:g.28827310G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21910;gnomADv4_1_AC_joint_XX=10864;gnomADv4_1_AC_joint_XY=11046;gnomADv4_1_AF_grpmax_joint=0.38468;gnomADv4_1_AF_joint=0.146465;gnomADv4_1_AF_joint_XX=0.141654;gnomADv4_1_AF_joint_XY=0.151527;gnomADv4_1_AN_grpmax_joint=4726;gnomADv4_1_AN_joint=149592;gnomADv4_1_AN_joint_XX=76694;gnomADv4_1_AN_joint_XY=72898;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1942;gnomADv4_1_nhomalt_joint_XX=924;gnomADv4_1_nhomalt_joint_XY=1018;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28827654 chr22_28827654_A_G A G 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.126;CADD_Rawscore=0.180169;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-11206A>G|||||||rs5762825||1||||3||||||||Ensembl||A|A||||chr22:g.28827654A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+5475A>G|||||||rs5762825||1||||3||||||||Ensembl||A|A||||chr22:g.28827654A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+5475A>G|||||||rs5762825||1||||||||||||Ensembl||A|A||||chr22:g.28827654A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+5475A>G|||||||rs5762825||1||||||||||||Ensembl||A|A||||chr22:g.28827654A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+5475A>G|||||||rs5762825||1||||||||||||Ensembl||A|A||||chr22:g.28827654A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+5475A>G|||||||rs5762825||1||||||||||||Ensembl||A|A||||chr22:g.28827654A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-20737A>G|||||||rs5762825||1||||||||||||Ensembl||A|A||||chr22:g.28827654A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+5475A>G|||||||rs5762825||1||||||||||||Ensembl||A|A||||chr22:g.28827654A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+5475A>G|||||||rs5762825||1||||||||||||Ensembl||A|A||||chr22:g.28827654A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+5475A>G|||||||rs5762825||1||||||||||||Ensembl||A|A||||chr22:g.28827654A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-16473A>G|||||||rs5762825||1||||||||||||Ensembl||A|A||||chr22:g.28827654A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+5475A>G|||||||rs5762825||1||||||||||||Ensembl||A|A||||chr22:g.28827654A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+5475A>G|||||||rs5762825||1||||||||||||Ensembl||A|A||||chr22:g.28827654A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60563;gnomADv4_1_AC_joint_XX=30719;gnomADv4_1_AC_joint_XY=29844;gnomADv4_1_AF_grpmax_joint=0.676152;gnomADv4_1_AF_joint=0.398504;gnomADv4_1_AF_joint_XX=0.395507;gnomADv4_1_AF_joint_XY=0.401636;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151976;gnomADv4_1_AN_joint_XX=77670;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13347;gnomADv4_1_nhomalt_joint_XX=6719;gnomADv4_1_nhomalt_joint_XY=6628;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28827784 chr22_28827784_G_A G A 58 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.642;CADD_Rawscore=-0.130502;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-11076G>A|||||||rs5762826||1||||3||||||||Ensembl||G|G||||chr22:g.28827784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+5605G>A|||||||rs5762826||1||||3||||||||Ensembl||G|G||||chr22:g.28827784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+5605G>A|||||||rs5762826||1||||||||||||Ensembl||G|G||||chr22:g.28827784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+5605G>A|||||||rs5762826||1||||||||||||Ensembl||G|G||||chr22:g.28827784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+5605G>A|||||||rs5762826||1||||||||||||Ensembl||G|G||||chr22:g.28827784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+5605G>A|||||||rs5762826||1||||||||||||Ensembl||G|G||||chr22:g.28827784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-20607G>A|||||||rs5762826||1||||||||||||Ensembl||G|G||||chr22:g.28827784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+5605G>A|||||||rs5762826||1||||||||||||Ensembl||G|G||||chr22:g.28827784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+5605G>A|||||||rs5762826||1||||||||||||Ensembl||G|G||||chr22:g.28827784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+5605G>A|||||||rs5762826||1||||||||||||Ensembl||G|G||||chr22:g.28827784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-16343G>A|||||||rs5762826||1||||||||||||Ensembl||G|G||||chr22:g.28827784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+5605G>A|||||||rs5762826||1||||||||||||Ensembl||G|G||||chr22:g.28827784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+5605G>A|||||||rs5762826||1||||||||||||Ensembl||G|G||||chr22:g.28827784G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22278;gnomADv4_1_AC_joint_XX=11002;gnomADv4_1_AC_joint_XY=11276;gnomADv4_1_AF_grpmax_joint=0.383639;gnomADv4_1_AF_joint=0.147061;gnomADv4_1_AF_joint_XX=0.142053;gnomADv4_1_AF_joint_XY=0.1523;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=151488;gnomADv4_1_AN_joint_XX=77450;gnomADv4_1_AN_joint_XY=74038;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1968;gnomADv4_1_nhomalt_joint_XX=936;gnomADv4_1_nhomalt_joint_XY=1032;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28828228 chr22_28828228_C_CTATATATATATATATATA;chr22_28828228_CTATATATATATATATA_C C CTATATATATATATATATA 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=23;CADDIndel_PHREDscore=0.049;CADDIndel_Rawscore=-0.808034;CSQ=TATATATATATATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-10610_35-10593dup|||||||rs56245633||1||||3||||||||Ensembl||||||39|chr22:g.28828250_28828267dup|||||||||||||,TATATATATATATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+6071_263+6088dup|||||||rs56245633||1||||3||||||||Ensembl||||||39|chr22:g.28828250_28828267dup|||||||||||||,TATATATATATATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+6071_268+6088dup|||||||rs56245633||1||||||||||||Ensembl||||||39|chr22:g.28828250_28828267dup|||||||||||||,TATATATATATATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+6071_266+6088dup|||||||rs56245633||1||||||||||||Ensembl||||||39|chr22:g.28828250_28828267dup|||||||||||||,TATATATATATATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+6071_265+6088dup|||||||rs56245633||1||||||||||||Ensembl||||||39|chr22:g.28828250_28828267dup|||||||||||||,TATATATATATATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+6071_262+6088dup|||||||rs56245633||1||||||||||||Ensembl||||||39|chr22:g.28828250_28828267dup|||||||||||||,TATATATATATATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-20141_51-20124dup|||||||rs56245633||1||||||||||||Ensembl||||||39|chr22:g.28828250_28828267dup|||||||||||||,TATATATATATATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+6071_258+6088dup|||||||rs56245633||1||||||||||||Ensembl||||||39|chr22:g.28828250_28828267dup|||||||||||||,TATATATATATATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+6071_275+6088dup|||||||rs56245633||1||||||||||||Ensembl||||||39|chr22:g.28828250_28828267dup|||||||||||||,TATATATATATATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+6071_263+6088dup|||||||rs56245633||1||||||||||||Ensembl||||||39|chr22:g.28828250_28828267dup|||||||||||||,TATATATATATATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-15877_56-15860dup|||||||rs56245633||1||||||||||||Ensembl||||||39|chr22:g.28828250_28828267dup|||||||||||||,TATATATATATATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+6071_315+6088dup|||||||rs56245633||1||||||||||||Ensembl||||||39|chr22:g.28828250_28828267dup|||||||||||||,TATATATATATATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+6071_201+6088dup|||||||rs56245633||1||||||||||||Ensembl||||||39|chr22:g.28828250_28828267dup|||||||||||||;TYPE=INDEL;VEP_Allele=TATATATATATATATATA,TATATATATATATATATA,TATATATATATATATATA,TATATATATATATATATA,TATATATATATATATATA,TATATATATATATATATA,TATATATATATATATATA,TATATATATATATATATA,TATATATATATATATATA,TATATATATATATATATA,TATATATATATATATATA,TATATATATATATATATA,TATATATATATATATATA;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=540;gnomADv4_1_AC_joint_XX=298;gnomADv4_1_AC_joint_XY=242;gnomADv4_1_AF_grpmax_joint=0.0212766;gnomADv4_1_AF_joint=0.00914077;gnomADv4_1_AF_joint_XX=0.00916077;gnomADv4_1_AF_joint_XY=0.00911625;gnomADv4_1_AN_grpmax_joint=94;gnomADv4_1_AN_joint=59076;gnomADv4_1_AN_joint_XX=32530;gnomADv4_1_AN_joint_XY=26546;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=26;gnomADv4_1_nhomalt_joint_XX=12;gnomADv4_1_nhomalt_joint_XY=14;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28828228 chr22_28828228_C_CTATATATATATATATATA;chr22_28828228_CTATATATATATATATA_C CTATATATATATATATA C 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=23;CADDIndel_PHREDscore=0.384;CADDIndel_Rawscore=-0.259277;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-10608_35-10593del|||||||rs56245633||1||||3||||||||Ensembl||TATATATATATATATA|TATATATATATATATA|||23|chr22:g.28828252_28828267del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+6073_263+6088del|||||||rs56245633||1||||3||||||||Ensembl||TATATATATATATATA|TATATATATATATATA|||23|chr22:g.28828252_28828267del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+6073_268+6088del|||||||rs56245633||1||||||||||||Ensembl||TATATATATATATATA|TATATATATATATATA|||23|chr22:g.28828252_28828267del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+6073_266+6088del|||||||rs56245633||1||||||||||||Ensembl||TATATATATATATATA|TATATATATATATATA|||23|chr22:g.28828252_28828267del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+6073_265+6088del|||||||rs56245633||1||||||||||||Ensembl||TATATATATATATATA|TATATATATATATATA|||23|chr22:g.28828252_28828267del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+6073_262+6088del|||||||rs56245633||1||||||||||||Ensembl||TATATATATATATATA|TATATATATATATATA|||23|chr22:g.28828252_28828267del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-20139_51-20124del|||||||rs56245633||1||||||||||||Ensembl||TATATATATATATATA|TATATATATATATATA|||23|chr22:g.28828252_28828267del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+6073_258+6088del|||||||rs56245633||1||||||||||||Ensembl||TATATATATATATATA|TATATATATATATATA|||23|chr22:g.28828252_28828267del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+6073_275+6088del|||||||rs56245633||1||||||||||||Ensembl||TATATATATATATATA|TATATATATATATATA|||23|chr22:g.28828252_28828267del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+6073_263+6088del|||||||rs56245633||1||||||||||||Ensembl||TATATATATATATATA|TATATATATATATATA|||23|chr22:g.28828252_28828267del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-15875_56-15860del|||||||rs56245633||1||||||||||||Ensembl||TATATATATATATATA|TATATATATATATATA|||23|chr22:g.28828252_28828267del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+6073_315+6088del|||||||rs56245633||1||||||||||||Ensembl||TATATATATATATATA|TATATATATATATATA|||23|chr22:g.28828252_28828267del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+6073_201+6088del|||||||rs56245633||1||||||||||||Ensembl||TATATATATATATATA|TATATATATATATATA|||23|chr22:g.28828252_28828267del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8631;gnomADv4_1_AC_joint_XX=4783;gnomADv4_1_AC_joint_XY=3848;gnomADv4_1_AF_grpmax_joint=0.33347;gnomADv4_1_AF_joint=0.145005;gnomADv4_1_AF_joint_XX=0.145859;gnomADv4_1_AF_joint_XY=0.143958;gnomADv4_1_AN_grpmax_joint=4894;gnomADv4_1_AN_joint=59522;gnomADv4_1_AN_joint_XX=32792;gnomADv4_1_AN_joint_XY=26730;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=942;gnomADv4_1_nhomalt_joint_XX=497;gnomADv4_1_nhomalt_joint_XY=445;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28828245 chr22_28828245_T_C T C 28 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=28;CADD_PHREDscore=1.623;CADD_Rawscore=0.108817;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-10615T>C|||||||rs371813366||1||||3||||||||Ensembl||T|T||||chr22:g.28828245T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+6066T>C|||||||rs371813366||1||||3||||||||Ensembl||T|T||||chr22:g.28828245T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+6066T>C|||||||rs371813366||1||||||||||||Ensembl||T|T||||chr22:g.28828245T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+6066T>C|||||||rs371813366||1||||||||||||Ensembl||T|T||||chr22:g.28828245T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+6066T>C|||||||rs371813366||1||||||||||||Ensembl||T|T||||chr22:g.28828245T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+6066T>C|||||||rs371813366||1||||||||||||Ensembl||T|T||||chr22:g.28828245T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-20146T>C|||||||rs371813366||1||||||||||||Ensembl||T|T||||chr22:g.28828245T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+6066T>C|||||||rs371813366||1||||||||||||Ensembl||T|T||||chr22:g.28828245T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+6066T>C|||||||rs371813366||1||||||||||||Ensembl||T|T||||chr22:g.28828245T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+6066T>C|||||||rs371813366||1||||||||||||Ensembl||T|T||||chr22:g.28828245T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-15882T>C|||||||rs371813366||1||||||||||||Ensembl||T|T||||chr22:g.28828245T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+6066T>C|||||||rs371813366||1||||||||||||Ensembl||T|T||||chr22:g.28828245T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+6066T>C|||||||rs371813366||1||||||||||||Ensembl||T|T||||chr22:g.28828245T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5904;gnomADv4_1_AC_joint_XX=3272;gnomADv4_1_AC_joint_XY=2632;gnomADv4_1_AF_grpmax_joint=0.139785;gnomADv4_1_AF_joint=0.0574319;gnomADv4_1_AF_joint_XX=0.0603245;gnomADv4_1_AF_joint_XY=0.054201;gnomADv4_1_AN_grpmax_joint=186;gnomADv4_1_AN_joint=102800;gnomADv4_1_AN_joint_XX=54240;gnomADv4_1_AN_joint_XY=48560;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=822;gnomADv4_1_nhomalt_joint_XX=413;gnomADv4_1_nhomalt_joint_XY=409;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28828255 chr22_28828255_T_C T C 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=1.772;CADD_Rawscore=0.132015;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-10605T>C|||||||rs1347953537||1||||3||||||||Ensembl||T|T||||chr22:g.28828255T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+6076T>C|||||||rs1347953537||1||||3||||||||Ensembl||T|T||||chr22:g.28828255T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+6076T>C|||||||rs1347953537||1||||||||||||Ensembl||T|T||||chr22:g.28828255T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+6076T>C|||||||rs1347953537||1||||||||||||Ensembl||T|T||||chr22:g.28828255T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+6076T>C|||||||rs1347953537||1||||||||||||Ensembl||T|T||||chr22:g.28828255T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+6076T>C|||||||rs1347953537||1||||||||||||Ensembl||T|T||||chr22:g.28828255T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-20136T>C|||||||rs1347953537||1||||||||||||Ensembl||T|T||||chr22:g.28828255T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+6076T>C|||||||rs1347953537||1||||||||||||Ensembl||T|T||||chr22:g.28828255T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+6076T>C|||||||rs1347953537||1||||||||||||Ensembl||T|T||||chr22:g.28828255T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+6076T>C|||||||rs1347953537||1||||||||||||Ensembl||T|T||||chr22:g.28828255T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-15872T>C|||||||rs1347953537||1||||||||||||Ensembl||T|T||||chr22:g.28828255T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+6076T>C|||||||rs1347953537||1||||||||||||Ensembl||T|T||||chr22:g.28828255T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+6076T>C|||||||rs1347953537||1||||||||||||Ensembl||T|T||||chr22:g.28828255T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5;gnomADv4_1_AC_joint_XX=1;gnomADv4_1_AC_joint_XY=4;gnomADv4_1_AF_grpmax_joint=0.00107875;gnomADv4_1_AF_joint=4.27511e-05;gnomADv4_1_AF_joint_XX=1.6276e-05;gnomADv4_1_AF_joint_XY=7.20513e-05;gnomADv4_1_AN_grpmax_joint=3708;gnomADv4_1_AN_joint=116956;gnomADv4_1_AN_joint_XX=61440;gnomADv4_1_AN_joint_XY=55516;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28828393 chr22_28828393_AGC_A AGC A 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.873;CADDIndel_Rawscore=-0.052685;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-10466_35-10465del|||||||rs66531039||1||||3||||||||Ensembl||GC|GC||||chr22:g.28828394_28828395del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+6215_263+6216del|||||||rs66531039||1||||3||||||||Ensembl||GC|GC||||chr22:g.28828394_28828395del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+6215_268+6216del|||||||rs66531039||1||||||||||||Ensembl||GC|GC||||chr22:g.28828394_28828395del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+6215_266+6216del|||||||rs66531039||1||||||||||||Ensembl||GC|GC||||chr22:g.28828394_28828395del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+6215_265+6216del|||||||rs66531039||1||||||||||||Ensembl||GC|GC||||chr22:g.28828394_28828395del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+6215_262+6216del|||||||rs66531039||1||||||||||||Ensembl||GC|GC||||chr22:g.28828394_28828395del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-19997_51-19996del|||||||rs66531039||1||||||||||||Ensembl||GC|GC||||chr22:g.28828394_28828395del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+6215_258+6216del|||||||rs66531039||1||||||||||||Ensembl||GC|GC||||chr22:g.28828394_28828395del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+6215_275+6216del|||||||rs66531039||1||||||||||||Ensembl||GC|GC||||chr22:g.28828394_28828395del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+6215_263+6216del|||||||rs66531039||1||||||||||||Ensembl||GC|GC||||chr22:g.28828394_28828395del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-15733_56-15732del|||||||rs66531039||1||||||||||||Ensembl||GC|GC||||chr22:g.28828394_28828395del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+6215_315+6216del|||||||rs66531039||1||||||||||||Ensembl||GC|GC||||chr22:g.28828394_28828395del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+6215_201+6216del|||||||rs66531039||1||||||||||||Ensembl||GC|GC||||chr22:g.28828394_28828395del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21915;gnomADv4_1_AC_joint_XX=10840;gnomADv4_1_AC_joint_XY=11075;gnomADv4_1_AF_grpmax_joint=0.386737;gnomADv4_1_AF_joint=0.14686;gnomADv4_1_AF_joint_XX=0.141718;gnomADv4_1_AF_joint_XY=0.152267;gnomADv4_1_AN_grpmax_joint=4750;gnomADv4_1_AN_joint=149224;gnomADv4_1_AN_joint_XX=76490;gnomADv4_1_AN_joint_XY=72734;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1947;gnomADv4_1_nhomalt_joint_XX=924;gnomADv4_1_nhomalt_joint_XY=1023;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28828874 chr22_28828874_T_C T C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.344;CADD_Rawscore=0.059309;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-9986T>C|||||||rs9625588||1||||3||||||||Ensembl||T|T||||chr22:g.28828874T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+6695T>C|||||||rs9625588||1||||3||||||||Ensembl||T|T||||chr22:g.28828874T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+6695T>C|||||||rs9625588||1||||||||||||Ensembl||T|T||||chr22:g.28828874T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+6695T>C|||||||rs9625588||1||||||||||||Ensembl||T|T||||chr22:g.28828874T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+6695T>C|||||||rs9625588||1||||||||||||Ensembl||T|T||||chr22:g.28828874T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+6695T>C|||||||rs9625588||1||||||||||||Ensembl||T|T||||chr22:g.28828874T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-19517T>C|||||||rs9625588||1||||||||||||Ensembl||T|T||||chr22:g.28828874T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+6695T>C|||||||rs9625588||1||||||||||||Ensembl||T|T||||chr22:g.28828874T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+6695T>C|||||||rs9625588||1||||||||||||Ensembl||T|T||||chr22:g.28828874T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+6695T>C|||||||rs9625588||1||||||||||||Ensembl||T|T||||chr22:g.28828874T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-15253T>C|||||||rs9625588||1||||||||||||Ensembl||T|T||||chr22:g.28828874T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+6695T>C|||||||rs9625588||1||||||||||||Ensembl||T|T||||chr22:g.28828874T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+6695T>C|||||||rs9625588||1||||||||||||Ensembl||T|T||||chr22:g.28828874T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60110;gnomADv4_1_AC_joint_XX=30501;gnomADv4_1_AC_joint_XY=29609;gnomADv4_1_AF_grpmax_joint=0.673401;gnomADv4_1_AF_joint=0.398512;gnomADv4_1_AF_joint_XX=0.395029;gnomADv4_1_AF_joint_XY=0.402165;gnomADv4_1_AN_grpmax_joint=5098;gnomADv4_1_AN_joint=150836;gnomADv4_1_AN_joint_XX=77212;gnomADv4_1_AN_joint_XY=73624;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13172;gnomADv4_1_nhomalt_joint_XX=6627;gnomADv4_1_nhomalt_joint_XY=6545;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28829512 chr22_28829512_G_A G A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.763;CADD_Rawscore=-0.087282;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-9348G>A|||||||rs5752809||1||||3||||||||Ensembl||G|G||||chr22:g.28829512G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+7333G>A|||||||rs5752809||1||||3||||||||Ensembl||G|G||||chr22:g.28829512G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+7333G>A|||||||rs5752809||1||||||||||||Ensembl||G|G||||chr22:g.28829512G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+7333G>A|||||||rs5752809||1||||||||||||Ensembl||G|G||||chr22:g.28829512G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+7333G>A|||||||rs5752809||1||||||||||||Ensembl||G|G||||chr22:g.28829512G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+7333G>A|||||||rs5752809||1||||||||||||Ensembl||G|G||||chr22:g.28829512G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-18879G>A|||||||rs5752809||1||||||||||||Ensembl||G|G||||chr22:g.28829512G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+7333G>A|||||||rs5752809||1||||||||||||Ensembl||G|G||||chr22:g.28829512G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+7333G>A|||||||rs5752809||1||||||||||||Ensembl||G|G||||chr22:g.28829512G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+7333G>A|||||||rs5752809||1||||||||||||Ensembl||G|G||||chr22:g.28829512G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-14615G>A|||||||rs5752809||1||||||||||||Ensembl||G|G||||chr22:g.28829512G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+7333G>A|||||||rs5752809||1||||||||||||Ensembl||G|G||||chr22:g.28829512G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+7333G>A|||||||rs5752809||1||||||||||||Ensembl||G|G||||chr22:g.28829512G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7PGX|enhancer||||||||||rs5752809|||||||||||||||||||||chr22:g.28829512G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,ENSR22_B7PGX;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60435;gnomADv4_1_AC_joint_XX=30678;gnomADv4_1_AC_joint_XY=29757;gnomADv4_1_AF_grpmax_joint=0.675302;gnomADv4_1_AF_joint=0.398217;gnomADv4_1_AF_joint_XX=0.395223;gnomADv4_1_AF_joint_XY=0.401351;gnomADv4_1_AN_grpmax_joint=5134;gnomADv4_1_AN_joint=151764;gnomADv4_1_AN_joint_XX=77622;gnomADv4_1_AN_joint_XY=74142;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13304;gnomADv4_1_nhomalt_joint_XX=6707;gnomADv4_1_nhomalt_joint_XY=6597;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28829535 chr22_28829535_G_A G A 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.519;CADD_Rawscore=-0.183657;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-9325G>A|||||||rs5752810||1||||3||||||||Ensembl||G|G||||chr22:g.28829535G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+7356G>A|||||||rs5752810||1||||3||||||||Ensembl||G|G||||chr22:g.28829535G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+7356G>A|||||||rs5752810||1||||||||||||Ensembl||G|G||||chr22:g.28829535G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+7356G>A|||||||rs5752810||1||||||||||||Ensembl||G|G||||chr22:g.28829535G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+7356G>A|||||||rs5752810||1||||||||||||Ensembl||G|G||||chr22:g.28829535G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+7356G>A|||||||rs5752810||1||||||||||||Ensembl||G|G||||chr22:g.28829535G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-18856G>A|||||||rs5752810||1||||||||||||Ensembl||G|G||||chr22:g.28829535G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+7356G>A|||||||rs5752810||1||||||||||||Ensembl||G|G||||chr22:g.28829535G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+7356G>A|||||||rs5752810||1||||||||||||Ensembl||G|G||||chr22:g.28829535G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+7356G>A|||||||rs5752810||1||||||||||||Ensembl||G|G||||chr22:g.28829535G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-14592G>A|||||||rs5752810||1||||||||||||Ensembl||G|G||||chr22:g.28829535G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+7356G>A|||||||rs5752810||1||||||||||||Ensembl||G|G||||chr22:g.28829535G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+7356G>A|||||||rs5752810||1||||||||||||Ensembl||G|G||||chr22:g.28829535G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7PGX|enhancer||||||||||rs5752810|||||||||||||||||||||chr22:g.28829535G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,ENSR22_B7PGX;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22265;gnomADv4_1_AC_joint_XX=10976;gnomADv4_1_AC_joint_XY=11289;gnomADv4_1_AF_grpmax_joint=0.38206;gnomADv4_1_AF_joint=0.146523;gnomADv4_1_AF_joint_XX=0.141276;gnomADv4_1_AF_joint_XY=0.152012;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=151956;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1971;gnomADv4_1_nhomalt_joint_XX=934;gnomADv4_1_nhomalt_joint_XY=1037;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28829604 chr22_28829604_C_G C G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.257;CADD_Rawscore=-0.362067;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-9256C>G|||||||rs5752811||1||||3||||||||Ensembl||C|C||||chr22:g.28829604C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+7425C>G|||||||rs5752811||1||||3||||||||Ensembl||C|C||||chr22:g.28829604C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+7425C>G|||||||rs5752811||1||||||||||||Ensembl||C|C||||chr22:g.28829604C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+7425C>G|||||||rs5752811||1||||||||||||Ensembl||C|C||||chr22:g.28829604C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+7425C>G|||||||rs5752811||1||||||||||||Ensembl||C|C||||chr22:g.28829604C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+7425C>G|||||||rs5752811||1||||||||||||Ensembl||C|C||||chr22:g.28829604C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-18787C>G|||||||rs5752811||1||||||||||||Ensembl||C|C||||chr22:g.28829604C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+7425C>G|||||||rs5752811||1||||||||||||Ensembl||C|C||||chr22:g.28829604C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+7425C>G|||||||rs5752811||1||||||||||||Ensembl||C|C||||chr22:g.28829604C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+7425C>G|||||||rs5752811||1||||||||||||Ensembl||C|C||||chr22:g.28829604C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-14523C>G|||||||rs5752811||1||||||||||||Ensembl||C|C||||chr22:g.28829604C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+7425C>G|||||||rs5752811||1||||||||||||Ensembl||C|C||||chr22:g.28829604C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+7425C>G|||||||rs5752811||1||||||||||||Ensembl||C|C||||chr22:g.28829604C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7PGX|enhancer||||||||||rs5752811|||||||||||||||||||||chr22:g.28829604C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,ENSR22_B7PGX;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17092;gnomADv4_1_AC_joint_XX=8657;gnomADv4_1_AC_joint_XY=8435;gnomADv4_1_AF_grpmax_joint=0.276923;gnomADv4_1_AF_joint=0.112335;gnomADv4_1_AF_joint_XX=0.111298;gnomADv4_1_AF_joint_XY=0.113419;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1148;gnomADv4_1_nhomalt_joint_XX=556;gnomADv4_1_nhomalt_joint_XY=592;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28829615 chr22_28829615_T_A T A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.159;CADD_Rawscore=-0.488001;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-9245T>A|||||||rs5752812||1||||3||||||||Ensembl||T|T||||chr22:g.28829615T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+7436T>A|||||||rs5752812||1||||3||||||||Ensembl||T|T||||chr22:g.28829615T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+7436T>A|||||||rs5752812||1||||||||||||Ensembl||T|T||||chr22:g.28829615T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+7436T>A|||||||rs5752812||1||||||||||||Ensembl||T|T||||chr22:g.28829615T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+7436T>A|||||||rs5752812||1||||||||||||Ensembl||T|T||||chr22:g.28829615T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+7436T>A|||||||rs5752812||1||||||||||||Ensembl||T|T||||chr22:g.28829615T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-18776T>A|||||||rs5752812||1||||||||||||Ensembl||T|T||||chr22:g.28829615T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+7436T>A|||||||rs5752812||1||||||||||||Ensembl||T|T||||chr22:g.28829615T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+7436T>A|||||||rs5752812||1||||||||||||Ensembl||T|T||||chr22:g.28829615T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+7436T>A|||||||rs5752812||1||||||||||||Ensembl||T|T||||chr22:g.28829615T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-14512T>A|||||||rs5752812||1||||||||||||Ensembl||T|T||||chr22:g.28829615T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+7436T>A|||||||rs5752812||1||||||||||||Ensembl||T|T||||chr22:g.28829615T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+7436T>A|||||||rs5752812||1||||||||||||Ensembl||T|T||||chr22:g.28829615T>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7PGX|enhancer||||||||||rs5752812|||||||||||||||||||||chr22:g.28829615T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,ENSR22_B7PGX;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,.;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60412;gnomADv4_1_AC_joint_XX=30682;gnomADv4_1_AC_joint_XY=29730;gnomADv4_1_AF_grpmax_joint=0.675544;gnomADv4_1_AF_joint=0.397835;gnomADv4_1_AF_joint_XX=0.39501;gnomADv4_1_AF_joint_XY=0.400793;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=151852;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74178;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13292;gnomADv4_1_nhomalt_joint_XX=6709;gnomADv4_1_nhomalt_joint_XY=6583;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28830582 chr22_28830582_T_G T G 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.588;CADD_Rawscore=0.103102;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-8278T>G|||||||rs5752813||1||||3||||||||Ensembl||T|T||||chr22:g.28830582T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+8403T>G|||||||rs5752813||1||||3||||||||Ensembl||T|T||||chr22:g.28830582T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+8403T>G|||||||rs5752813||1||||||||||||Ensembl||T|T||||chr22:g.28830582T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+8403T>G|||||||rs5752813||1||||||||||||Ensembl||T|T||||chr22:g.28830582T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+8403T>G|||||||rs5752813||1||||||||||||Ensembl||T|T||||chr22:g.28830582T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+8403T>G|||||||rs5752813||1||||||||||||Ensembl||T|T||||chr22:g.28830582T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-17809T>G|||||||rs5752813||1||||||||||||Ensembl||T|T||||chr22:g.28830582T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+8403T>G|||||||rs5752813||1||||||||||||Ensembl||T|T||||chr22:g.28830582T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+8403T>G|||||||rs5752813||1||||||||||||Ensembl||T|T||||chr22:g.28830582T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+8403T>G|||||||rs5752813||1||||||||||||Ensembl||T|T||||chr22:g.28830582T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-13545T>G|||||||rs5752813||1||||||||||||Ensembl||T|T||||chr22:g.28830582T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+8403T>G|||||||rs5752813||1||||||||||||Ensembl||T|T||||chr22:g.28830582T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.201+8403T>G|||||||rs5752813||1||||||||||||Ensembl||T|T||||chr22:g.28830582T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65075;gnomADv4_1_AC_joint_XX=33189;gnomADv4_1_AC_joint_XY=31886;gnomADv4_1_AF_grpmax_joint=0.675456;gnomADv4_1_AF_joint=0.428441;gnomADv4_1_AF_joint_XX=0.427132;gnomADv4_1_AF_joint_XY=0.429812;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=151888;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74186;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16006;gnomADv4_1_nhomalt_joint_XX=8183;gnomADv4_1_nhomalt_joint_XY=7823;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28832142 chr22_28832142_T_C T C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.025;CADD_Rawscore=0.167193;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-6718T>C|||||||rs5762829||1||||3||||||||Ensembl||T|T||||chr22:g.28832142T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs5762829|3751|-1||HGNC|HGNC:56979|||||||||Ensembl||T|T||||chr22:g.28832142T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+9963T>C|||||||rs5762829||1||||3||||||||Ensembl||T|T||||chr22:g.28832142T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+9963T>C|||||||rs5762829||1||||||||||||Ensembl||T|T||||chr22:g.28832142T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+9963T>C|||||||rs5762829||1||||||||||||Ensembl||T|T||||chr22:g.28832142T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+9963T>C|||||||rs5762829||1||||||||||||Ensembl||T|T||||chr22:g.28832142T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+9963T>C|||||||rs5762829||1||||||||||||Ensembl||T|T||||chr22:g.28832142T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-16249T>C|||||||rs5762829||1||||||||||||Ensembl||T|T||||chr22:g.28832142T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+9963T>C|||||||rs5762829||1||||||||||||Ensembl||T|T||||chr22:g.28832142T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+9963T>C|||||||rs5762829||1||||||||||||Ensembl||T|T||||chr22:g.28832142T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+9963T>C|||||||rs5762829||1||||||||||||Ensembl||T|T||||chr22:g.28832142T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-11985T>C|||||||rs5762829||1||||||||||||Ensembl||T|T||||chr22:g.28832142T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+9963T>C|||||||rs5762829||1||||||||||||Ensembl||T|T||||chr22:g.28832142T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-8210T>C|||||||rs5762829||1||||||||||||Ensembl||T|T||||chr22:g.28832142T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25273;gnomADv4_1_AC_joint_XX=12524;gnomADv4_1_AC_joint_XY=12749;gnomADv4_1_AF_grpmax_joint=0.38511;gnomADv4_1_AF_joint=0.166108;gnomADv4_1_AF_joint_XX=0.161014;gnomADv4_1_AF_joint_XY=0.171436;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152148;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2308;gnomADv4_1_nhomalt_joint_XX=1100;gnomADv4_1_nhomalt_joint_XY=1208;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28832496 chr22_28832496_G_C G C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.467;CADD_Rawscore=-0.21012;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-6364G>C|||||||rs8137969||1||||3||||||||Ensembl||G|G||||chr22:g.28832496G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs8137969|3397|-1||HGNC|HGNC:56979|||||||||Ensembl||G|G||||chr22:g.28832496G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.263+10317G>C|||||||rs8137969||1||||3||||||||Ensembl||G|G||||chr22:g.28832496G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.268+10317G>C|||||||rs8137969||1||||||||||||Ensembl||G|G||||chr22:g.28832496G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+10317G>C|||||||rs8137969||1||||||||||||Ensembl||G|G||||chr22:g.28832496G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+10317G>C|||||||rs8137969||1||||||||||||Ensembl||G|G||||chr22:g.28832496G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.262+10317G>C|||||||rs8137969||1||||||||||||Ensembl||G|G||||chr22:g.28832496G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-15895G>C|||||||rs8137969||1||||||||||||Ensembl||G|G||||chr22:g.28832496G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.258+10317G>C|||||||rs8137969||1||||||||||||Ensembl||G|G||||chr22:g.28832496G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+10317G>C|||||||rs8137969||1||||||||||||Ensembl||G|G||||chr22:g.28832496G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.263+10317G>C|||||||rs8137969||1||||||||||||Ensembl||G|G||||chr22:g.28832496G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-11631G>C|||||||rs8137969||1||||||||||||Ensembl||G|G||||chr22:g.28832496G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+10317G>C|||||||rs8137969||1||||||||||||Ensembl||G|G||||chr22:g.28832496G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-7856G>C|||||||rs8137969||1||||||||||||Ensembl||G|G||||chr22:g.28832496G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60484;gnomADv4_1_AC_joint_XX=30710;gnomADv4_1_AC_joint_XY=29774;gnomADv4_1_AF_grpmax_joint=0.679654;gnomADv4_1_AF_joint=0.400228;gnomADv4_1_AF_joint_XX=0.397335;gnomADv4_1_AF_joint_XY=0.403256;gnomADv4_1_AN_grpmax_joint=5082;gnomADv4_1_AN_joint=151124;gnomADv4_1_AN_joint_XX=77290;gnomADv4_1_AN_joint_XY=73834;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13334;gnomADv4_1_nhomalt_joint_XX=6724;gnomADv4_1_nhomalt_joint_XY=6610;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28834669 chr22_28834669_T_A T A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.267;CADD_Rawscore=-0.351919;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-4191T>A|||||||rs5752814||1||||3||||||||Ensembl||T|T||||chr22:g.28834669T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs5752814|1224|-1||HGNC|HGNC:56979|||||||||Ensembl||T|T||||chr22:g.28834669T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-9458T>A|||||||rs5752814||1||||3||||||||Ensembl||T|T||||chr22:g.28834669T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-9458T>A|||||||rs5752814||1||||||||||||Ensembl||T|T||||chr22:g.28834669T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+12490T>A|||||||rs5752814||1||||||||||||Ensembl||T|T||||chr22:g.28834669T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+12490T>A|||||||rs5752814||1||||||||||||Ensembl||T|T||||chr22:g.28834669T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-9458T>A|||||||rs5752814||1||||||||||||Ensembl||T|T||||chr22:g.28834669T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-13722T>A|||||||rs5752814||1||||||||||||Ensembl||T|T||||chr22:g.28834669T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-11649T>A|||||||rs5752814||1||||||||||||Ensembl||T|T||||chr22:g.28834669T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+12490T>A|||||||rs5752814||1||||||||||||Ensembl||T|T||||chr22:g.28834669T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-11649T>A|||||||rs5752814||1||||||||||||Ensembl||T|T||||chr22:g.28834669T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-9458T>A|||||||rs5752814||1||||||||||||Ensembl||T|T||||chr22:g.28834669T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+12490T>A|||||||rs5752814||1||||||||||||Ensembl||T|T||||chr22:g.28834669T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-5683T>A|||||||rs5752814||1||||||||||||Ensembl||T|T||||chr22:g.28834669T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22320;gnomADv4_1_AC_joint_XX=11011;gnomADv4_1_AC_joint_XY=11309;gnomADv4_1_AF_grpmax_joint=0.384727;gnomADv4_1_AF_joint=0.146753;gnomADv4_1_AF_joint_XX=0.141581;gnomADv4_1_AF_joint_XY=0.152166;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1984;gnomADv4_1_nhomalt_joint_XX=940;gnomADv4_1_nhomalt_joint_XY=1044;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28834745 chr22_28834745_C_A C A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.217;CADD_Rawscore=-0.405239;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-4115C>A|||||||rs5752815||1||||3||||||||Ensembl||C|C||||chr22:g.28834745C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs5752815|1148|-1||HGNC|HGNC:56979|||||||||Ensembl||C|C||||chr22:g.28834745C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-9382C>A|||||||rs5752815||1||||3||||||||Ensembl||C|C||||chr22:g.28834745C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-9382C>A|||||||rs5752815||1||||||||||||Ensembl||C|C||||chr22:g.28834745C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+12566C>A|||||||rs5752815||1||||||||||||Ensembl||C|C||||chr22:g.28834745C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+12566C>A|||||||rs5752815||1||||||||||||Ensembl||C|C||||chr22:g.28834745C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-9382C>A|||||||rs5752815||1||||||||||||Ensembl||C|C||||chr22:g.28834745C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-13646C>A|||||||rs5752815||1||||||||||||Ensembl||C|C||||chr22:g.28834745C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-11573C>A|||||||rs5752815||1||||||||||||Ensembl||C|C||||chr22:g.28834745C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+12566C>A|||||||rs5752815||1||||||||||||Ensembl||C|C||||chr22:g.28834745C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-11573C>A|||||||rs5752815||1||||||||||||Ensembl||C|C||||chr22:g.28834745C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-9382C>A|||||||rs5752815||1||||||||||||Ensembl||C|C||||chr22:g.28834745C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+12566C>A|||||||rs5752815||1||||||||||||Ensembl||C|C||||chr22:g.28834745C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-5607C>A|||||||rs5752815||1||||||||||||Ensembl||C|C||||chr22:g.28834745C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22311;gnomADv4_1_AC_joint_XX=11010;gnomADv4_1_AC_joint_XY=11301;gnomADv4_1_AF_grpmax_joint=0.38404;gnomADv4_1_AF_joint=0.146752;gnomADv4_1_AF_joint_XX=0.14163;gnomADv4_1_AF_joint_XY=0.152112;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1985;gnomADv4_1_nhomalt_joint_XX=942;gnomADv4_1_nhomalt_joint_XY=1043;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28834766 chr22_28834766_A_G A G 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=3.519;CADD_Rawscore=0.322367;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-4094A>G|||||||rs5762835||1||||3||||||||Ensembl||A|A||||chr22:g.28834766A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs5762835|1127|-1||HGNC|HGNC:56979|||||||||Ensembl||A|A||||chr22:g.28834766A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-9361A>G|||||||rs5762835||1||||3||||||||Ensembl||A|A||||chr22:g.28834766A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-9361A>G|||||||rs5762835||1||||||||||||Ensembl||A|A||||chr22:g.28834766A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+12587A>G|||||||rs5762835||1||||||||||||Ensembl||A|A||||chr22:g.28834766A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+12587A>G|||||||rs5762835||1||||||||||||Ensembl||A|A||||chr22:g.28834766A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-9361A>G|||||||rs5762835||1||||||||||||Ensembl||A|A||||chr22:g.28834766A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-13625A>G|||||||rs5762835||1||||||||||||Ensembl||A|A||||chr22:g.28834766A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-11552A>G|||||||rs5762835||1||||||||||||Ensembl||A|A||||chr22:g.28834766A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+12587A>G|||||||rs5762835||1||||||||||||Ensembl||A|A||||chr22:g.28834766A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-11552A>G|||||||rs5762835||1||||||||||||Ensembl||A|A||||chr22:g.28834766A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-9361A>G|||||||rs5762835||1||||||||||||Ensembl||A|A||||chr22:g.28834766A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+12587A>G|||||||rs5762835||1||||||||||||Ensembl||A|A||||chr22:g.28834766A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-5586A>G|||||||rs5762835||1||||||||||||Ensembl||A|A||||chr22:g.28834766A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22328;gnomADv4_1_AC_joint_XX=11014;gnomADv4_1_AC_joint_XY=11314;gnomADv4_1_AF_grpmax_joint=0.383658;gnomADv4_1_AF_joint=0.146713;gnomADv4_1_AF_joint_XX=0.141605;gnomADv4_1_AF_joint_XY=0.152054;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152188;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1984;gnomADv4_1_nhomalt_joint_XX=940;gnomADv4_1_nhomalt_joint_XY=1044;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28834803 chr22_28834803_A_G A G 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.417;CADD_Rawscore=0.073224;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-4057A>G|||||||rs2157374||1||||3||||||||Ensembl||A|A||||chr22:g.28834803A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs2157374|1090|-1||HGNC|HGNC:56979|||||||||Ensembl||A|A||||chr22:g.28834803A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-9324A>G|||||||rs2157374||1||||3||||||||Ensembl||A|A||||chr22:g.28834803A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-9324A>G|||||||rs2157374||1||||||||||||Ensembl||A|A||||chr22:g.28834803A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+12624A>G|||||||rs2157374||1||||||||||||Ensembl||A|A||||chr22:g.28834803A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+12624A>G|||||||rs2157374||1||||||||||||Ensembl||A|A||||chr22:g.28834803A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-9324A>G|||||||rs2157374||1||||||||||||Ensembl||A|A||||chr22:g.28834803A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-13588A>G|||||||rs2157374||1||||||||||||Ensembl||A|A||||chr22:g.28834803A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-11515A>G|||||||rs2157374||1||||||||||||Ensembl||A|A||||chr22:g.28834803A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+12624A>G|||||||rs2157374||1||||||||||||Ensembl||A|A||||chr22:g.28834803A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-11515A>G|||||||rs2157374||1||||||||||||Ensembl||A|A||||chr22:g.28834803A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-9324A>G|||||||rs2157374||1||||||||||||Ensembl||A|A||||chr22:g.28834803A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+12624A>G|||||||rs2157374||1||||||||||||Ensembl||A|A||||chr22:g.28834803A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-5549A>G|||||||rs2157374||1||||||||||||Ensembl||A|A||||chr22:g.28834803A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91541;gnomADv4_1_AC_joint_XX=46428;gnomADv4_1_AC_joint_XY=45113;gnomADv4_1_AF_grpmax_joint=0.888031;gnomADv4_1_AF_joint=0.602561;gnomADv4_1_AF_joint_XX=0.597698;gnomADv4_1_AF_joint_XY=0.607648;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=30427;gnomADv4_1_nhomalt_joint_XX=15387;gnomADv4_1_nhomalt_joint_XY=15040;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28835012 chr22_28835012_CT_C CT C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.476;CADDIndel_Rawscore=-0.20535;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-3838del|||||||rs67924329||1||||3||||||||Ensembl||T|T|||9|chr22:g.28835022del|||||||||||||,-|downstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs67924329|880|-1||HGNC|HGNC:56979|||||||||Ensembl||T|T||||chr22:g.28835022del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-9105del|||||||rs67924329||1||||3||||||||Ensembl||T|T|||9|chr22:g.28835022del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-9105del|||||||rs67924329||1||||||||||||Ensembl||T|T|||9|chr22:g.28835022del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+12843del|||||||rs67924329||1||||||||||||Ensembl||T|T|||9|chr22:g.28835022del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+12843del|||||||rs67924329||1||||||||||||Ensembl||T|T|||9|chr22:g.28835022del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-9105del|||||||rs67924329||1||||||||||||Ensembl||T|T|||9|chr22:g.28835022del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-13369del|||||||rs67924329||1||||||||||||Ensembl||T|T|||9|chr22:g.28835022del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-11296del|||||||rs67924329||1||||||||||||Ensembl||T|T|||9|chr22:g.28835022del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+12843del|||||||rs67924329||1||||||||||||Ensembl||T|T|||9|chr22:g.28835022del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-11296del|||||||rs67924329||1||||||||||||Ensembl||T|T|||9|chr22:g.28835022del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-9105del|||||||rs67924329||1||||||||||||Ensembl||T|T|||9|chr22:g.28835022del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+12843del|||||||rs67924329||1||||||||||||Ensembl||T|T|||9|chr22:g.28835022del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-5330del|||||||rs67924329||1||||||||||||Ensembl||T|T|||9|chr22:g.28835022del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs67924329|4994|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28835022del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15541;gnomADv4_1_AC_joint_XX=7861;gnomADv4_1_AC_joint_XY=7680;gnomADv4_1_AF_grpmax_joint=0.282673;gnomADv4_1_AF_joint=0.104503;gnomADv4_1_AF_joint_XX=0.103168;gnomADv4_1_AF_joint_XY=0.105905;gnomADv4_1_AN_grpmax_joint=4698;gnomADv4_1_AN_joint=148714;gnomADv4_1_AN_joint_XX=76196;gnomADv4_1_AN_joint_XY=72518;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1086;gnomADv4_1_nhomalt_joint_XX=522;gnomADv4_1_nhomalt_joint_XY=564;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28835210 chr22_28835210_G_A G A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.319;CADD_Rawscore=0.203375;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-3650G>A|||||||rs5762838||1||||3||||||||Ensembl||G|G||||chr22:g.28835210G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs5762838|683|-1||HGNC|HGNC:56979|||||||||Ensembl||G|G||||chr22:g.28835210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-8917G>A|||||||rs5762838||1||||3||||||||Ensembl||G|G||||chr22:g.28835210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-8917G>A|||||||rs5762838||1||||||||||||Ensembl||G|G||||chr22:g.28835210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.266+13031G>A|||||||rs5762838||1||||||||||||Ensembl||G|G||||chr22:g.28835210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+13031G>A|||||||rs5762838||1||||||||||||Ensembl||G|G||||chr22:g.28835210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-8917G>A|||||||rs5762838||1||||||||||||Ensembl||G|G||||chr22:g.28835210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-13181G>A|||||||rs5762838||1||||||||||||Ensembl||G|G||||chr22:g.28835210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-11108G>A|||||||rs5762838||1||||||||||||Ensembl||G|G||||chr22:g.28835210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.275+13031G>A|||||||rs5762838||1||||||||||||Ensembl||G|G||||chr22:g.28835210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-11108G>A|||||||rs5762838||1||||||||||||Ensembl||G|G||||chr22:g.28835210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-8917G>A|||||||rs5762838||1||||||||||||Ensembl||G|G||||chr22:g.28835210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.315+13031G>A|||||||rs5762838||1||||||||||||Ensembl||G|G||||chr22:g.28835210G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-5142G>A|||||||rs5762838||1||||||||||||Ensembl||G|G||||chr22:g.28835210G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs5762838|4797|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28835210G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22308;gnomADv4_1_AC_joint_XX=10994;gnomADv4_1_AC_joint_XY=11314;gnomADv4_1_AF_grpmax_joint=0.385607;gnomADv4_1_AF_joint=0.146798;gnomADv4_1_AF_joint_XX=0.141537;gnomADv4_1_AF_joint_XY=0.152299;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1984;gnomADv4_1_nhomalt_joint_XX=936;gnomADv4_1_nhomalt_joint_XY=1048;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28835459 chr22_28835459_C_T C T 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=7.601;CADD_Rawscore=0.724219;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-3401C>T|||||||rs5762839||1||||3||||||||Ensembl||C|C||||chr22:g.28835459C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs5762839|434|-1||HGNC|HGNC:56979|||||||||Ensembl||C|C||||chr22:g.28835459C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-8668C>T|||||||rs5762839||1||||3||||||||Ensembl||C|C||||chr22:g.28835459C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-8668C>T|||||||rs5762839||1||||||||||||Ensembl||C|C||||chr22:g.28835459C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-12932C>T|||||||rs5762839||1||||||||||||Ensembl||C|C||||chr22:g.28835459C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.265+13280C>T|||||||rs5762839||1||||||||||||Ensembl||C|C||||chr22:g.28835459C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-8668C>T|||||||rs5762839||1||||||||||||Ensembl||C|C||||chr22:g.28835459C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-12932C>T|||||||rs5762839||1||||||||||||Ensembl||C|C||||chr22:g.28835459C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-10859C>T|||||||rs5762839||1||||||||||||Ensembl||C|C||||chr22:g.28835459C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-12932C>T|||||||rs5762839||1||||||||||||Ensembl||C|C||||chr22:g.28835459C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-10859C>T|||||||rs5762839||1||||||||||||Ensembl||C|C||||chr22:g.28835459C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-8668C>T|||||||rs5762839||1||||||||||||Ensembl||C|C||||chr22:g.28835459C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-12932C>T|||||||rs5762839||1||||||||||||Ensembl||C|C||||chr22:g.28835459C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-4893C>T|||||||rs5762839||1||||||||||||Ensembl||C|C||||chr22:g.28835459C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs5762839|4548|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28835459C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22338;gnomADv4_1_AC_joint_XX=11016;gnomADv4_1_AC_joint_XY=11322;gnomADv4_1_AF_grpmax_joint=0.384743;gnomADv4_1_AF_joint=0.146779;gnomADv4_1_AF_joint_XX=0.141619;gnomADv4_1_AF_joint_XY=0.152173;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152188;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1988;gnomADv4_1_nhomalt_joint_XX=942;gnomADv4_1_nhomalt_joint_XY=1046;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28836576 chr22_28836576_A_G A G 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=6.11;CADD_Rawscore=0.564334;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-2284A>G|||||||rs9625591||1||||3||||||||Ensembl||A|A||||chr22:g.28836576A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs9625591|439|-1||HGNC|HGNC:56979|||||||||Ensembl||A|A||||chr22:g.28836576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-7551A>G|||||||rs9625591||1||||3||||||||Ensembl||A|A||||chr22:g.28836576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-7551A>G|||||||rs9625591||1||||||||||||Ensembl||A|A||||chr22:g.28836576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-11815A>G|||||||rs9625591||1||||||||||||Ensembl||A|A||||chr22:g.28836576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-13671A>G|||||||rs9625591||1||||||||||||Ensembl||A|A||||chr22:g.28836576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-7551A>G|||||||rs9625591||1||||||||||||Ensembl||A|A||||chr22:g.28836576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-11815A>G|||||||rs9625591||1||||||||||||Ensembl||A|A||||chr22:g.28836576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-9742A>G|||||||rs9625591||1||||||||||||Ensembl||A|A||||chr22:g.28836576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-11815A>G|||||||rs9625591||1||||||||||||Ensembl||A|A||||chr22:g.28836576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-9742A>G|||||||rs9625591||1||||||||||||Ensembl||A|A||||chr22:g.28836576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-7551A>G|||||||rs9625591||1||||||||||||Ensembl||A|A||||chr22:g.28836576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-11815A>G|||||||rs9625591||1||||||||||||Ensembl||A|A||||chr22:g.28836576A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-3776A>G|||||||rs9625591||1||||||||||||Ensembl||A|A||||chr22:g.28836576A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs9625591|3431|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28836576A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22250;gnomADv4_1_AC_joint_XX=10987;gnomADv4_1_AC_joint_XY=11263;gnomADv4_1_AF_grpmax_joint=0.384503;gnomADv4_1_AF_joint=0.1467;gnomADv4_1_AF_joint_XX=0.141603;gnomADv4_1_AF_joint_XY=0.152038;gnomADv4_1_AN_grpmax_joint=4788;gnomADv4_1_AN_joint=151670;gnomADv4_1_AN_joint_XX=77590;gnomADv4_1_AN_joint_XY=74080;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1979;gnomADv4_1_nhomalt_joint_XX=935;gnomADv4_1_nhomalt_joint_XY=1044;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28836916 chr22_28836916_CA_C CA C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=0.678;CADDIndel_Rawscore=-0.116877;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-1928del|||||||rs36031912||1||||3||||||||Ensembl||A|A|||15|chr22:g.28836932del|||||||||||||,-|upstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs36031912|780|-1||HGNC|HGNC:56979|||||||||Ensembl||A|A||||chr22:g.28836932del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-7195del|||||||rs36031912||1||||3||||||||Ensembl||A|A|||15|chr22:g.28836932del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-7195del|||||||rs36031912||1||||||||||||Ensembl||A|A|||15|chr22:g.28836932del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-11459del|||||||rs36031912||1||||||||||||Ensembl||A|A|||15|chr22:g.28836932del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-13315del|||||||rs36031912||1||||||||||||Ensembl||A|A|||15|chr22:g.28836932del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-7195del|||||||rs36031912||1||||||||||||Ensembl||A|A|||15|chr22:g.28836932del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-11459del|||||||rs36031912||1||||||||||||Ensembl||A|A|||15|chr22:g.28836932del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-9386del|||||||rs36031912||1||||||||||||Ensembl||A|A|||15|chr22:g.28836932del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-11459del|||||||rs36031912||1||||||||||||Ensembl||A|A|||15|chr22:g.28836932del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-9386del|||||||rs36031912||1||||||||||||Ensembl||A|A|||15|chr22:g.28836932del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-7195del|||||||rs36031912||1||||||||||||Ensembl||A|A|||15|chr22:g.28836932del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-11459del|||||||rs36031912||1||||||||||||Ensembl||A|A|||15|chr22:g.28836932del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-3420del|||||||rs36031912||1||||||||||||Ensembl||A|A|||15|chr22:g.28836932del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs36031912|3090|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28836932del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20693;gnomADv4_1_AC_joint_XX=10664;gnomADv4_1_AC_joint_XY=10029;gnomADv4_1_AF_grpmax_joint=0.310076;gnomADv4_1_AF_joint=0.161877;gnomADv4_1_AF_joint_XX=0.160192;gnomADv4_1_AF_joint_XY=0.163707;gnomADv4_1_AN_grpmax_joint=4228;gnomADv4_1_AN_joint=127832;gnomADv4_1_AN_joint_XX=66570;gnomADv4_1_AN_joint_XY=61262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1512;gnomADv4_1_nhomalt_joint_XX=745;gnomADv4_1_nhomalt_joint_XY=767;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28837168 chr22_28837168_AC_A AC A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=1.294;CADDIndel_Rawscore=0.049278;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-1691del|||||||rs11305098||1||||3||||||||Ensembl||C|C||||chr22:g.28837169del|||||||||||||,-|upstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs11305098|1032|-1||HGNC|HGNC:56979|||||||||Ensembl||C|C||||chr22:g.28837169del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-6958del|||||||rs11305098||1||||3||||||||Ensembl||C|C||||chr22:g.28837169del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-6958del|||||||rs11305098||1||||||||||||Ensembl||C|C||||chr22:g.28837169del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-11222del|||||||rs11305098||1||||||||||||Ensembl||C|C||||chr22:g.28837169del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-13078del|||||||rs11305098||1||||||||||||Ensembl||C|C||||chr22:g.28837169del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-6958del|||||||rs11305098||1||||||||||||Ensembl||C|C||||chr22:g.28837169del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-11222del|||||||rs11305098||1||||||||||||Ensembl||C|C||||chr22:g.28837169del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-9149del|||||||rs11305098||1||||||||||||Ensembl||C|C||||chr22:g.28837169del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-11222del|||||||rs11305098||1||||||||||||Ensembl||C|C||||chr22:g.28837169del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-9149del|||||||rs11305098||1||||||||||||Ensembl||C|C||||chr22:g.28837169del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-6958del|||||||rs11305098||1||||||||||||Ensembl||C|C||||chr22:g.28837169del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-11222del|||||||rs11305098||1||||||||||||Ensembl||C|C||||chr22:g.28837169del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-3183del|||||||rs11305098||1||||||||||||Ensembl||C|C||||chr22:g.28837169del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs11305098|2838|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28837169del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60420;gnomADv4_1_AC_joint_XX=30667;gnomADv4_1_AC_joint_XY=29753;gnomADv4_1_AF_grpmax_joint=0.675244;gnomADv4_1_AF_joint=0.398134;gnomADv4_1_AF_joint_XX=0.395132;gnomADv4_1_AF_joint_XY=0.401276;gnomADv4_1_AN_grpmax_joint=5130;gnomADv4_1_AN_joint=151758;gnomADv4_1_AN_joint_XX=77612;gnomADv4_1_AN_joint_XY=74146;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13285;gnomADv4_1_nhomalt_joint_XX=6696;gnomADv4_1_nhomalt_joint_XY=6589;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28837274 chr22_28837274_T_C T C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=4.273;CADD_Rawscore=0.389492;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-1586T>C|||||||rs6005915||1||||3||||||||Ensembl||T|T||||chr22:g.28837274T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs6005915|1137|-1||HGNC|HGNC:56979|||||||||Ensembl||T|T||||chr22:g.28837274T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-6853T>C|||||||rs6005915||1||||3||||||||Ensembl||T|T||||chr22:g.28837274T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-6853T>C|||||||rs6005915||1||||||||||||Ensembl||T|T||||chr22:g.28837274T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-11117T>C|||||||rs6005915||1||||||||||||Ensembl||T|T||||chr22:g.28837274T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-12973T>C|||||||rs6005915||1||||||||||||Ensembl||T|T||||chr22:g.28837274T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-6853T>C|||||||rs6005915||1||||||||||||Ensembl||T|T||||chr22:g.28837274T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-11117T>C|||||||rs6005915||1||||||||||||Ensembl||T|T||||chr22:g.28837274T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-9044T>C|||||||rs6005915||1||||||||||||Ensembl||T|T||||chr22:g.28837274T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-11117T>C|||||||rs6005915||1||||||||||||Ensembl||T|T||||chr22:g.28837274T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-9044T>C|||||||rs6005915||1||||||||||||Ensembl||T|T||||chr22:g.28837274T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-6853T>C|||||||rs6005915||1||||||||||||Ensembl||T|T||||chr22:g.28837274T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-11117T>C|||||||rs6005915||1||||||||||||Ensembl||T|T||||chr22:g.28837274T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-3078T>C|||||||rs6005915||1||||||||||||Ensembl||T|T||||chr22:g.28837274T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs6005915|2733|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28837274T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41095;gnomADv4_1_AC_joint_XX=20711;gnomADv4_1_AC_joint_XY=20384;gnomADv4_1_AF_grpmax_joint=0.585537;gnomADv4_1_AF_joint=0.270426;gnomADv4_1_AF_joint_XX=0.266482;gnomADv4_1_AF_joint_XY=0.274554;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74244;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6197;gnomADv4_1_nhomalt_joint_XX=3075;gnomADv4_1_nhomalt_joint_XY=3122;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28837297 chr22_28837297_A_G A G 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.715;CADD_Rawscore=0.24631;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-1563A>G|||||||rs76576785||1||||3||||||||Ensembl||A|A||||chr22:g.28837297A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs76576785|1160|-1||HGNC|HGNC:56979|||||||||Ensembl||A|A||||chr22:g.28837297A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-6830A>G|||||||rs76576785||1||||3||||||||Ensembl||A|A||||chr22:g.28837297A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-6830A>G|||||||rs76576785||1||||||||||||Ensembl||A|A||||chr22:g.28837297A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-11094A>G|||||||rs76576785||1||||||||||||Ensembl||A|A||||chr22:g.28837297A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-12950A>G|||||||rs76576785||1||||||||||||Ensembl||A|A||||chr22:g.28837297A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-6830A>G|||||||rs76576785||1||||||||||||Ensembl||A|A||||chr22:g.28837297A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-11094A>G|||||||rs76576785||1||||||||||||Ensembl||A|A||||chr22:g.28837297A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-9021A>G|||||||rs76576785||1||||||||||||Ensembl||A|A||||chr22:g.28837297A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-11094A>G|||||||rs76576785||1||||||||||||Ensembl||A|A||||chr22:g.28837297A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-9021A>G|||||||rs76576785||1||||||||||||Ensembl||A|A||||chr22:g.28837297A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-6830A>G|||||||rs76576785||1||||||||||||Ensembl||A|A||||chr22:g.28837297A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-11094A>G|||||||rs76576785||1||||||||||||Ensembl||A|A||||chr22:g.28837297A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-3055A>G|||||||rs76576785||1||||||||||||Ensembl||A|A||||chr22:g.28837297A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs76576785|2710|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28837297A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2766;gnomADv4_1_AC_joint_XX=1458;gnomADv4_1_AC_joint_XY=1308;gnomADv4_1_AF_grpmax_joint=0.0288894;gnomADv4_1_AF_joint=0.0181661;gnomADv4_1_AF_joint_XX=0.0187336;gnomADv4_1_AF_joint_XY=0.0175726;gnomADv4_1_AN_grpmax_joint=68018;gnomADv4_1_AN_joint=152262;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=46;gnomADv4_1_nhomalt_joint_XX=27;gnomADv4_1_nhomalt_joint_XY=19;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28837354 chr22_28837354_T_C T C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.919;CADD_Rawscore=-0.03967;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-1506T>C|||||||rs6005916||1||||3||||||||Ensembl||T|T||||chr22:g.28837354T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs6005916|1217|-1||HGNC|HGNC:56979|||||||||Ensembl||T|T||||chr22:g.28837354T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-6773T>C|||||||rs6005916||1||||3||||||||Ensembl||T|T||||chr22:g.28837354T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-6773T>C|||||||rs6005916||1||||||||||||Ensembl||T|T||||chr22:g.28837354T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-11037T>C|||||||rs6005916||1||||||||||||Ensembl||T|T||||chr22:g.28837354T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-12893T>C|||||||rs6005916||1||||||||||||Ensembl||T|T||||chr22:g.28837354T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-6773T>C|||||||rs6005916||1||||||||||||Ensembl||T|T||||chr22:g.28837354T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-11037T>C|||||||rs6005916||1||||||||||||Ensembl||T|T||||chr22:g.28837354T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-8964T>C|||||||rs6005916||1||||||||||||Ensembl||T|T||||chr22:g.28837354T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-11037T>C|||||||rs6005916||1||||||||||||Ensembl||T|T||||chr22:g.28837354T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-8964T>C|||||||rs6005916||1||||||||||||Ensembl||T|T||||chr22:g.28837354T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-6773T>C|||||||rs6005916||1||||||||||||Ensembl||T|T||||chr22:g.28837354T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-11037T>C|||||||rs6005916||1||||||||||||Ensembl||T|T||||chr22:g.28837354T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-2998T>C|||||||rs6005916||1||||||||||||Ensembl||T|T||||chr22:g.28837354T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs6005916|2653|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28837354T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60551;gnomADv4_1_AC_joint_XX=30731;gnomADv4_1_AC_joint_XY=29820;gnomADv4_1_AF_grpmax_joint=0.677144;gnomADv4_1_AF_joint=0.398367;gnomADv4_1_AF_joint_XX=0.395396;gnomADv4_1_AF_joint_XY=0.401476;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13347;gnomADv4_1_nhomalt_joint_XX=6723;gnomADv4_1_nhomalt_joint_XY=6624;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28837498 chr22_28837498_A_G A G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.501;CADD_Rawscore=0.223797;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-1362A>G|||||||rs6005917||1||||3||||||||Ensembl||A|A||||chr22:g.28837498A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs6005917|1361|-1||HGNC|HGNC:56979|||||||||Ensembl||A|A||||chr22:g.28837498A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-6629A>G|||||||rs6005917||1||||3||||||||Ensembl||A|A||||chr22:g.28837498A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-6629A>G|||||||rs6005917||1||||||||||||Ensembl||A|A||||chr22:g.28837498A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-10893A>G|||||||rs6005917||1||||||||||||Ensembl||A|A||||chr22:g.28837498A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-12749A>G|||||||rs6005917||1||||||||||||Ensembl||A|A||||chr22:g.28837498A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-6629A>G|||||||rs6005917||1||||||||||||Ensembl||A|A||||chr22:g.28837498A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-10893A>G|||||||rs6005917||1||||||||||||Ensembl||A|A||||chr22:g.28837498A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-8820A>G|||||||rs6005917||1||||||||||||Ensembl||A|A||||chr22:g.28837498A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-10893A>G|||||||rs6005917||1||||||||||||Ensembl||A|A||||chr22:g.28837498A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-8820A>G|||||||rs6005917||1||||||||||||Ensembl||A|A||||chr22:g.28837498A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-6629A>G|||||||rs6005917||1||||||||||||Ensembl||A|A||||chr22:g.28837498A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-10893A>G|||||||rs6005917||1||||||||||||Ensembl||A|A||||chr22:g.28837498A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-2854A>G|||||||rs6005917||1||||||||||||Ensembl||A|A||||chr22:g.28837498A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs6005917|2509|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28837498A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22339;gnomADv4_1_AC_joint_XX=11013;gnomADv4_1_AC_joint_XY=11326;gnomADv4_1_AF_grpmax_joint=0.386769;gnomADv4_1_AF_joint=0.146899;gnomADv4_1_AF_joint_XX=0.141654;gnomADv4_1_AF_joint_XY=0.152387;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1991;gnomADv4_1_nhomalt_joint_XX=941;gnomADv4_1_nhomalt_joint_XY=1050;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28838323 chr22_28838323_A_AAAAAAAAAAAAAGAAAG A AAAAAAAAAAAAAGAAAG 16 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=16;CADDIndel_PHREDscore=0.53;CADDIndel_Rawscore=-0.178656;CSQ=AAAAAAAAAAAAGAAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-532_35-531insAAAAAAAGAAAGAAAAA|||||||rs71196608||1||||3||||||||Ensembl||||||5|chr22:g.28838328_28838329insAAAAAAAGAAAGAAAAA|||||||||||||,AAAAAAAAAAAAGAAAG|upstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs71196608|2186|-1||HGNC|HGNC:56979|||||||||Ensembl|||||||chr22:g.28838328_28838329insAAAAAAAGAAAGAAAAA|||||||||||||,AAAAAAAAAAAAGAAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-5799_264-5798insAAAAAAAGAAAGAAAAA|||||||rs71196608||1||||3||||||||Ensembl||||||5|chr22:g.28838328_28838329insAAAAAAAGAAAGAAAAA|||||||||||||,AAAAAAAAAAAAGAAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-5799_269-5798insAAAAAAAGAAAGAAAAA|||||||rs71196608||1||||||||||||Ensembl||||||5|chr22:g.28838328_28838329insAAAAAAAGAAAGAAAAA|||||||||||||,AAAAAAAAAAAAGAAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-10063_267-10062insAAAAAAAGAAAGAAAAA|||||||rs71196608||1||||||||||||Ensembl||||||5|chr22:g.28838328_28838329insAAAAAAAGAAAGAAAAA|||||||||||||,AAAAAAAAAAAAGAAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-11919_266-11918insAAAAAAAGAAAGAAAAA|||||||rs71196608||1||||||||||||Ensembl||||||5|chr22:g.28838328_28838329insAAAAAAAGAAAGAAAAA|||||||||||||,AAAAAAAAAAAAGAAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-5799_263-5798insAAAAAAAGAAAGAAAAA|||||||rs71196608||1||||||||||||Ensembl||||||5|chr22:g.28838328_28838329insAAAAAAAGAAAGAAAAA|||||||||||||,AAAAAAAAAAAAGAAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-10063_51-10062insAAAAAAAGAAAGAAAAA|||||||rs71196608||1||||||||||||Ensembl||||||5|chr22:g.28838328_28838329insAAAAAAAGAAAGAAAAA|||||||||||||,AAAAAAAAAAAAGAAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-7990_259-7989insAAAAAAAGAAAGAAAAA|||||||rs71196608||1||||||||||||Ensembl||||||5|chr22:g.28838328_28838329insAAAAAAAGAAAGAAAAA|||||||||||||,AAAAAAAAAAAAGAAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-10063_276-10062insAAAAAAAGAAAGAAAAA|||||||rs71196608||1||||||||||||Ensembl||||||5|chr22:g.28838328_28838329insAAAAAAAGAAAGAAAAA|||||||||||||,AAAAAAAAAAAAGAAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-7990_264-7989insAAAAAAAGAAAGAAAAA|||||||rs71196608||1||||||||||||Ensembl||||||5|chr22:g.28838328_28838329insAAAAAAAGAAAGAAAAA|||||||||||||,AAAAAAAAAAAAGAAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-5799_56-5798insAAAAAAAGAAAGAAAAA|||||||rs71196608||1||||||||||||Ensembl||||||5|chr22:g.28838328_28838329insAAAAAAAGAAAGAAAAA|||||||||||||,AAAAAAAAAAAAGAAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-10063_316-10062insAAAAAAAGAAAGAAAAA|||||||rs71196608||1||||||||||||Ensembl||||||5|chr22:g.28838328_28838329insAAAAAAAGAAAGAAAAA|||||||||||||,AAAAAAAAAAAAGAAAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-2024_202-2023insAAAAAAAGAAAGAAAAA|||||||rs71196608||1||||||||||||Ensembl||||||5|chr22:g.28838328_28838329insAAAAAAAGAAAGAAAAA|||||||||||||,AAAAAAAAAAAAGAAAG|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs71196608|1683|1||EntrezGene||||||||||RefSeq|||||||chr22:g.28838328_28838329insAAAAAAAGAAAGAAAAA|||||||||||||;TYPE=INDEL;VEP_Allele=AAAAAAAAAAAAGAAAG,AAAAAAAAAAAAGAAAG,AAAAAAAAAAAAGAAAG,AAAAAAAAAAAAGAAAG,AAAAAAAAAAAAGAAAG,AAAAAAAAAAAAGAAAG,AAAAAAAAAAAAGAAAG,AAAAAAAAAAAAGAAAG,AAAAAAAAAAAAGAAAG,AAAAAAAAAAAAGAAAG,AAAAAAAAAAAAGAAAG,AAAAAAAAAAAAGAAAG,AAAAAAAAAAAAGAAAG,AAAAAAAAAAAAGAAAG,AAAAAAAAAAAAGAAAG;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4271;gnomADv4_1_AC_joint_XX=2494;gnomADv4_1_AC_joint_XY=1777;gnomADv4_1_AF_grpmax_joint=0.0564983;gnomADv4_1_AF_joint=0.0353829;gnomADv4_1_AF_joint_XX=0.0389213;gnomADv4_1_AF_joint_XY=0.0313791;gnomADv4_1_AN_grpmax_joint=60462;gnomADv4_1_AN_joint=120708;gnomADv4_1_AN_joint_XX=64078;gnomADv4_1_AN_joint_XY=56630;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=165;gnomADv4_1_nhomalt_joint_XX=102;gnomADv4_1_nhomalt_joint_XY=63;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28838423 chr22_28838423_AAG_A AAG A 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.499;CADDIndel_Rawscore=-0.193834;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-427_35-426del|||||||rs35085861||1||||3||||||||Ensembl||AG|AG|||9|chr22:g.28838433_28838434del|||||||||||||,-|upstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs35085861|2287|-1||HGNC|HGNC:56979|||||||||Ensembl||AG|AG||||chr22:g.28838433_28838434del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-5694_264-5693del|||||||rs35085861||1||||3||||||||Ensembl||AG|AG|||9|chr22:g.28838433_28838434del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-5694_269-5693del|||||||rs35085861||1||||||||||||Ensembl||AG|AG|||9|chr22:g.28838433_28838434del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-9958_267-9957del|||||||rs35085861||1||||||||||||Ensembl||AG|AG|||9|chr22:g.28838433_28838434del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-11814_266-11813del|||||||rs35085861||1||||||||||||Ensembl||AG|AG|||9|chr22:g.28838433_28838434del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-5694_263-5693del|||||||rs35085861||1||||||||||||Ensembl||AG|AG|||9|chr22:g.28838433_28838434del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-9958_51-9957del|||||||rs35085861||1||||||||||||Ensembl||AG|AG|||9|chr22:g.28838433_28838434del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-7885_259-7884del|||||||rs35085861||1||||||||||||Ensembl||AG|AG|||9|chr22:g.28838433_28838434del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-9958_276-9957del|||||||rs35085861||1||||||||||||Ensembl||AG|AG|||9|chr22:g.28838433_28838434del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-7885_264-7884del|||||||rs35085861||1||||||||||||Ensembl||AG|AG|||9|chr22:g.28838433_28838434del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-5694_56-5693del|||||||rs35085861||1||||||||||||Ensembl||AG|AG|||9|chr22:g.28838433_28838434del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-9958_316-9957del|||||||rs35085861||1||||||||||||Ensembl||AG|AG|||9|chr22:g.28838433_28838434del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-1919_202-1918del|||||||rs35085861||1||||||||||||Ensembl||AG|AG|||9|chr22:g.28838433_28838434del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs35085861|1582|1||EntrezGene||||||||||RefSeq||AG|AG||||chr22:g.28838433_28838434del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17526;gnomADv4_1_AC_joint_XX=8987;gnomADv4_1_AC_joint_XY=8539;gnomADv4_1_AF_grpmax_joint=0.322484;gnomADv4_1_AF_joint=0.125376;gnomADv4_1_AF_joint_XX=0.124072;gnomADv4_1_AF_joint_XY=0.126778;gnomADv4_1_AN_grpmax_joint=3994;gnomADv4_1_AN_joint=139788;gnomADv4_1_AN_joint_XX=72434;gnomADv4_1_AN_joint_XY=67354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1167;gnomADv4_1_nhomalt_joint_XX=565;gnomADv4_1_nhomalt_joint_XY=602;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28838549 chr22_28838549_A_G A G 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=4.198;CADD_Rawscore=0.38281;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-311A>G|||||||rs2881634||1||||3||||||||Ensembl||A|A||||chr22:g.28838549A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs2881634|2412|-1||HGNC|HGNC:56979|||||||||Ensembl||A|A||||chr22:g.28838549A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-5578A>G|||||||rs2881634||1||||3||||||||Ensembl||A|A||||chr22:g.28838549A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-5578A>G|||||||rs2881634||1||||||||||||Ensembl||A|A||||chr22:g.28838549A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-9842A>G|||||||rs2881634||1||||||||||||Ensembl||A|A||||chr22:g.28838549A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-11698A>G|||||||rs2881634||1||||||||||||Ensembl||A|A||||chr22:g.28838549A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-5578A>G|||||||rs2881634||1||||||||||||Ensembl||A|A||||chr22:g.28838549A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-9842A>G|||||||rs2881634||1||||||||||||Ensembl||A|A||||chr22:g.28838549A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-7769A>G|||||||rs2881634||1||||||||||||Ensembl||A|A||||chr22:g.28838549A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-9842A>G|||||||rs2881634||1||||||||||||Ensembl||A|A||||chr22:g.28838549A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-7769A>G|||||||rs2881634||1||||||||||||Ensembl||A|A||||chr22:g.28838549A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-5578A>G|||||||rs2881634||1||||||||||||Ensembl||A|A||||chr22:g.28838549A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-9842A>G|||||||rs2881634||1||||||||||||Ensembl||A|A||||chr22:g.28838549A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-1803A>G|||||||rs2881634||1||||||||||||Ensembl||A|A||||chr22:g.28838549A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs2881634|1458|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28838549A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15403;gnomADv4_1_AC_joint_XX=7797;gnomADv4_1_AC_joint_XY=7606;gnomADv4_1_AF_grpmax_joint=0.278709;gnomADv4_1_AF_joint=0.101843;gnomADv4_1_AF_joint_XX=0.100804;gnomADv4_1_AF_joint_XY=0.102931;gnomADv4_1_AN_grpmax_joint=4772;gnomADv4_1_AN_joint=151242;gnomADv4_1_AN_joint_XX=77348;gnomADv4_1_AN_joint_XY=73894;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1066;gnomADv4_1_nhomalt_joint_XX=516;gnomADv4_1_nhomalt_joint_XY=550;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28838581 chr22_28838581_CA_C CA C 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADDIndel_PHREDscore=0.741;CADDIndel_Rawscore=-0.094413;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-265del|||||||rs1157372115||1||||3||||||||Ensembl||A|A|||13|chr22:g.28838595del|||||||||||||,-|upstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs1157372115|2445|-1||HGNC|HGNC:56979|||||||||Ensembl||A|A||||chr22:g.28838595del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-5532del|||||||rs1157372115||1||||3||||||||Ensembl||A|A|||13|chr22:g.28838595del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-5532del|||||||rs1157372115||1||||||||||||Ensembl||A|A|||13|chr22:g.28838595del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-9796del|||||||rs1157372115||1||||||||||||Ensembl||A|A|||13|chr22:g.28838595del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-11652del|||||||rs1157372115||1||||||||||||Ensembl||A|A|||13|chr22:g.28838595del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-5532del|||||||rs1157372115||1||||||||||||Ensembl||A|A|||13|chr22:g.28838595del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-9796del|||||||rs1157372115||1||||||||||||Ensembl||A|A|||13|chr22:g.28838595del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-7723del|||||||rs1157372115||1||||||||||||Ensembl||A|A|||13|chr22:g.28838595del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-9796del|||||||rs1157372115||1||||||||||||Ensembl||A|A|||13|chr22:g.28838595del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-7723del|||||||rs1157372115||1||||||||||||Ensembl||A|A|||13|chr22:g.28838595del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-5532del|||||||rs1157372115||1||||||||||||Ensembl||A|A|||13|chr22:g.28838595del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-9796del|||||||rs1157372115||1||||||||||||Ensembl||A|A|||13|chr22:g.28838595del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-1757del|||||||rs1157372115||1||||||||||||Ensembl||A|A|||13|chr22:g.28838595del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs1157372115|1425|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28838595del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=448;gnomADv4_1_AC_joint_XX=202;gnomADv4_1_AC_joint_XY=246;gnomADv4_1_AF_grpmax_joint=0.0125;gnomADv4_1_AF_joint=0.00347201;gnomADv4_1_AF_joint_XX=0.00301853;gnomADv4_1_AF_joint_XY=0.00396059;gnomADv4_1_AN_grpmax_joint=240;gnomADv4_1_AN_joint=129032;gnomADv4_1_AN_joint_XX=66920;gnomADv4_1_AN_joint_XY=62112;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28838605 chr22_28838605_T_C T C 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.738;CADD_Rawscore=0.126865;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||1/1|ENST00000418292.1:n.35-255T>C|||||||rs2881635||1||||3||||||||Ensembl||T|T||||chr22:g.28838605T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs2881635|2468|-1||HGNC|HGNC:56979|||||||||Ensembl||T|T||||chr22:g.28838605T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-5522T>C|||||||rs2881635||1||||3||||||||Ensembl||T|T||||chr22:g.28838605T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-5522T>C|||||||rs2881635||1||||||||||||Ensembl||T|T||||chr22:g.28838605T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-9786T>C|||||||rs2881635||1||||||||||||Ensembl||T|T||||chr22:g.28838605T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-11642T>C|||||||rs2881635||1||||||||||||Ensembl||T|T||||chr22:g.28838605T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-5522T>C|||||||rs2881635||1||||||||||||Ensembl||T|T||||chr22:g.28838605T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-9786T>C|||||||rs2881635||1||||||||||||Ensembl||T|T||||chr22:g.28838605T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-7713T>C|||||||rs2881635||1||||||||||||Ensembl||T|T||||chr22:g.28838605T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-9786T>C|||||||rs2881635||1||||||||||||Ensembl||T|T||||chr22:g.28838605T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-7713T>C|||||||rs2881635||1||||||||||||Ensembl||T|T||||chr22:g.28838605T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-5522T>C|||||||rs2881635||1||||||||||||Ensembl||T|T||||chr22:g.28838605T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-9786T>C|||||||rs2881635||1||||||||||||Ensembl||T|T||||chr22:g.28838605T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-1747T>C|||||||rs2881635||1||||||||||||Ensembl||T|T||||chr22:g.28838605T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs2881635|1402|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28838605T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59963;gnomADv4_1_AC_joint_XX=30463;gnomADv4_1_AC_joint_XY=29500;gnomADv4_1_AF_grpmax_joint=0.680412;gnomADv4_1_AF_joint=0.404532;gnomADv4_1_AF_joint_XX=0.400176;gnomADv4_1_AF_joint_XY=0.409131;gnomADv4_1_AN_grpmax_joint=5044;gnomADv4_1_AN_joint=148228;gnomADv4_1_AN_joint_XX=76124;gnomADv4_1_AN_joint_XY=72104;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13214;gnomADv4_1_nhomalt_joint_XX=6656;gnomADv4_1_nhomalt_joint_XY=6558;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28839569 chr22_28839569_CA_C;chr22_28839569_CAA_C CA C 27 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=27;CADDIndel_PHREDscore=0.34;CADDIndel_Rawscore=-0.290165;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs796876010|537|1||||3||||||||Ensembl||A|A||||chr22:g.28839593del|||||||||||||,-|upstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs796876010|3433|-1||HGNC|HGNC:56979|||||||||Ensembl||A|A||||chr22:g.28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-4534del|||||||rs796876010||1||||3||||||||Ensembl||A|A|||23|chr22:g.28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-4534del|||||||rs796876010||1||||||||||||Ensembl||A|A|||23|chr22:g.28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-8798del|||||||rs796876010||1||||||||||||Ensembl||A|A|||23|chr22:g.28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-10654del|||||||rs796876010||1||||||||||||Ensembl||A|A|||23|chr22:g.28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-4534del|||||||rs796876010||1||||||||||||Ensembl||A|A|||23|chr22:g.28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-8798del|||||||rs796876010||1||||||||||||Ensembl||A|A|||23|chr22:g.28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-6725del|||||||rs796876010||1||||||||||||Ensembl||A|A|||23|chr22:g.28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-8798del|||||||rs796876010||1||||||||||||Ensembl||A|A|||23|chr22:g.28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-6725del|||||||rs796876010||1||||||||||||Ensembl||A|A|||23|chr22:g.28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-4534del|||||||rs796876010||1||||||||||||Ensembl||A|A|||23|chr22:g.28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-8798del|||||||rs796876010||1||||||||||||Ensembl||A|A|||23|chr22:g.28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-759del|||||||rs796876010||1||||||||||||Ensembl||A|A|||23|chr22:g.28839593del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs796876010|437|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28839593del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15064;gnomADv4_1_AC_joint_XX=8374;gnomADv4_1_AC_joint_XY=6690;gnomADv4_1_AF_grpmax_joint=0.304379;gnomADv4_1_AF_joint=0.240693;gnomADv4_1_AF_joint_XX=0.246164;gnomADv4_1_AF_joint_XY=0.234178;gnomADv4_1_AN_grpmax_joint=1416;gnomADv4_1_AN_joint=62586;gnomADv4_1_AN_joint_XX=34018;gnomADv4_1_AN_joint_XY=28568;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=703;gnomADv4_1_nhomalt_joint_XX=374;gnomADv4_1_nhomalt_joint_XY=329;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28839569 chr22_28839569_CA_C;chr22_28839569_CAA_C CAA C 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=26;CADDIndel_PHREDscore=0.344;CADDIndel_Rawscore=-0.287387;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs796876010|537|1||||3||||||||Ensembl||AA|AA||||chr22:g.28839592_28839593del|||||||||||||,-|upstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs796876010|3433|-1||HGNC|HGNC:56979|||||||||Ensembl||AA|AA||||chr22:g.28839592_28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-4535_264-4534del|||||||rs796876010||1||||3||||||||Ensembl||AA|AA|||22|chr22:g.28839592_28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-4535_269-4534del|||||||rs796876010||1||||||||||||Ensembl||AA|AA|||22|chr22:g.28839592_28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-8799_267-8798del|||||||rs796876010||1||||||||||||Ensembl||AA|AA|||22|chr22:g.28839592_28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-10655_266-10654del|||||||rs796876010||1||||||||||||Ensembl||AA|AA|||22|chr22:g.28839592_28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-4535_263-4534del|||||||rs796876010||1||||||||||||Ensembl||AA|AA|||22|chr22:g.28839592_28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-8799_51-8798del|||||||rs796876010||1||||||||||||Ensembl||AA|AA|||22|chr22:g.28839592_28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-6726_259-6725del|||||||rs796876010||1||||||||||||Ensembl||AA|AA|||22|chr22:g.28839592_28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-8799_276-8798del|||||||rs796876010||1||||||||||||Ensembl||AA|AA|||22|chr22:g.28839592_28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-6726_264-6725del|||||||rs796876010||1||||||||||||Ensembl||AA|AA|||22|chr22:g.28839592_28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-4535_56-4534del|||||||rs796876010||1||||||||||||Ensembl||AA|AA|||22|chr22:g.28839592_28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-8799_316-8798del|||||||rs796876010||1||||||||||||Ensembl||AA|AA|||22|chr22:g.28839592_28839593del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-760_202-759del|||||||rs796876010||1||||||||||||Ensembl||AA|AA|||22|chr22:g.28839592_28839593del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs796876010|436|1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.28839592_28839593del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1115;gnomADv4_1_AC_joint_XX=583;gnomADv4_1_AC_joint_XY=532;gnomADv4_1_AF_grpmax_joint=0.050192;gnomADv4_1_AF_joint=0.017795;gnomADv4_1_AF_joint_XX=0.017136;gnomADv4_1_AF_joint_XY=0.018578;gnomADv4_1_AN_grpmax_joint=18748;gnomADv4_1_AN_joint=62658;gnomADv4_1_AN_joint_XX=34022;gnomADv4_1_AN_joint_XY=28636;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=13;gnomADv4_1_nhomalt_joint_XX=8;gnomADv4_1_nhomalt_joint_XY=5;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28839985 chr22_28839985_G_A G A 59 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=4.963;CADD_Rawscore=0.45241;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs5752816|952|1||||3||||||||Ensembl||G|G||||chr22:g.28839985G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs5752816|3848|-1||HGNC|HGNC:56979|||||||||Ensembl||G|G||||chr22:g.28839985G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-4142G>A|||||||rs5752816||1||||3||||||||Ensembl||G|G||||chr22:g.28839985G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-4142G>A|||||||rs5752816||1||||||||||||Ensembl||G|G||||chr22:g.28839985G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-8406G>A|||||||rs5752816||1||||||||||||Ensembl||G|G||||chr22:g.28839985G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-10262G>A|||||||rs5752816||1||||||||||||Ensembl||G|G||||chr22:g.28839985G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-4142G>A|||||||rs5752816||1||||||||||||Ensembl||G|G||||chr22:g.28839985G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-8406G>A|||||||rs5752816||1||||||||||||Ensembl||G|G||||chr22:g.28839985G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-6333G>A|||||||rs5752816||1||||||||||||Ensembl||G|G||||chr22:g.28839985G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-8406G>A|||||||rs5752816||1||||||||||||Ensembl||G|G||||chr22:g.28839985G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-6333G>A|||||||rs5752816||1||||||||||||Ensembl||G|G||||chr22:g.28839985G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-4142G>A|||||||rs5752816||1||||||||||||Ensembl||G|G||||chr22:g.28839985G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-8406G>A|||||||rs5752816||1||||||||||||Ensembl||G|G||||chr22:g.28839985G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-367G>A|||||||rs5752816||1||||||||||||Ensembl||G|G||||chr22:g.28839985G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs5752816|22|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28839985G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15594;gnomADv4_1_AC_joint_XX=7871;gnomADv4_1_AC_joint_XY=7723;gnomADv4_1_AF_grpmax_joint=0.277755;gnomADv4_1_AF_joint=0.102471;gnomADv4_1_AF_joint_XX=0.101196;gnomADv4_1_AF_joint_XY=0.103804;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1081;gnomADv4_1_nhomalt_joint_XX=521;gnomADv4_1_nhomalt_joint_XY=560;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28840320 chr22_28840320_A_G A G 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=4.73;CADD_Rawscore=0.430808;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs5762848|1287|1||||3||||||||Ensembl||A|A||||chr22:g.28840320A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|BBLNP2|ENSG00000224256|Transcript|ENST00000447099|processed_pseudogene||||||||||rs5762848|4183|-1||HGNC|HGNC:56979|||||||||Ensembl||A|A||||chr22:g.28840320A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-3807A>G|||||||rs5762848||1||||3||||||||Ensembl||A|A||||chr22:g.28840320A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-3807A>G|||||||rs5762848||1||||||||||||Ensembl||A|A||||chr22:g.28840320A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-8071A>G|||||||rs5762848||1||||||||||||Ensembl||A|A||||chr22:g.28840320A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-9927A>G|||||||rs5762848||1||||||||||||Ensembl||A|A||||chr22:g.28840320A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-3807A>G|||||||rs5762848||1||||||||||||Ensembl||A|A||||chr22:g.28840320A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-8071A>G|||||||rs5762848||1||||||||||||Ensembl||A|A||||chr22:g.28840320A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-5998A>G|||||||rs5762848||1||||||||||||Ensembl||A|A||||chr22:g.28840320A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-8071A>G|||||||rs5762848||1||||||||||||Ensembl||A|A||||chr22:g.28840320A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-5998A>G|||||||rs5762848||1||||||||||||Ensembl||A|A||||chr22:g.28840320A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-3807A>G|||||||rs5762848||1||||||||||||Ensembl||A|A||||chr22:g.28840320A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-8071A>G|||||||rs5762848||1||||||||||||Ensembl||A|A||||chr22:g.28840320A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||1/1|ENST00000810432.1:n.202-32A>G|||||||rs5762848||1||||||||||||Ensembl||A|A||||chr22:g.28840320A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA|1/4||XR_002958745.2:n.314A>G||314|||||rs5762848||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28840320A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000447099,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000224256,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,BBLNP2,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21136;gnomADv4_1_AC_joint_XX=10395;gnomADv4_1_AC_joint_XY=10741;gnomADv4_1_AF_grpmax_joint=0.385708;gnomADv4_1_AF_joint=0.139164;gnomADv4_1_AF_joint_XX=0.133856;gnomADv4_1_AF_joint_XY=0.144718;gnomADv4_1_AN_grpmax_joint=4786;gnomADv4_1_AN_joint=151878;gnomADv4_1_AN_joint_XX=77658;gnomADv4_1_AN_joint_XY=74220;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1925;gnomADv4_1_nhomalt_joint_XX=899;gnomADv4_1_nhomalt_joint_XY=1026;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28841836 chr22_28841836_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.812;CADD_Rawscore=0.137853;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs12170231|2803|1||||3||||||||Ensembl||C|C||||chr22:g.28841836C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-2291C>T|||||||rs12170231||1||||3||||||||Ensembl||C|C||||chr22:g.28841836C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-2291C>T|||||||rs12170231||1||||||||||||Ensembl||C|C||||chr22:g.28841836C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-6555C>T|||||||rs12170231||1||||||||||||Ensembl||C|C||||chr22:g.28841836C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-8411C>T|||||||rs12170231||1||||||||||||Ensembl||C|C||||chr22:g.28841836C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-2291C>T|||||||rs12170231||1||||||||||||Ensembl||C|C||||chr22:g.28841836C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-6555C>T|||||||rs12170231||1||||||||||||Ensembl||C|C||||chr22:g.28841836C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-4482C>T|||||||rs12170231||1||||||||||||Ensembl||C|C||||chr22:g.28841836C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-6555C>T|||||||rs12170231||1||||||||||||Ensembl||C|C||||chr22:g.28841836C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-4482C>T|||||||rs12170231||1||||||||||||Ensembl||C|C||||chr22:g.28841836C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-2291C>T|||||||rs12170231||1||||||||||||Ensembl||C|C||||chr22:g.28841836C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-6555C>T|||||||rs12170231||1||||||||||||Ensembl||C|C||||chr22:g.28841836C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs12170231|1332|1||||||||||||Ensembl||C|C||||chr22:g.28841836C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||1/3|XR_002958745.2:n.429+1401C>T|||||||rs12170231||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28841836C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21130;gnomADv4_1_AC_joint_XX=10398;gnomADv4_1_AC_joint_XY=10732;gnomADv4_1_AF_grpmax_joint=0.384391;gnomADv4_1_AF_joint=0.139143;gnomADv4_1_AF_joint_XX=0.133895;gnomADv4_1_AF_joint_XY=0.144636;gnomADv4_1_AN_grpmax_joint=4792;gnomADv4_1_AN_joint=151858;gnomADv4_1_AN_joint_XX=77658;gnomADv4_1_AN_joint_XY=74200;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1922;gnomADv4_1_nhomalt_joint_XX=902;gnomADv4_1_nhomalt_joint_XY=1020;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28841970 chr22_28841970_C_G C G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.412;CADD_Rawscore=0.072221;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs60468718|2937|1||||3||||||||Ensembl||C|C||||chr22:g.28841970C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-2157C>G|||||||rs60468718||1||||3||||||||Ensembl||C|C||||chr22:g.28841970C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-2157C>G|||||||rs60468718||1||||||||||||Ensembl||C|C||||chr22:g.28841970C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-6421C>G|||||||rs60468718||1||||||||||||Ensembl||C|C||||chr22:g.28841970C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-8277C>G|||||||rs60468718||1||||||||||||Ensembl||C|C||||chr22:g.28841970C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-2157C>G|||||||rs60468718||1||||||||||||Ensembl||C|C||||chr22:g.28841970C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-6421C>G|||||||rs60468718||1||||||||||||Ensembl||C|C||||chr22:g.28841970C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-4348C>G|||||||rs60468718||1||||||||||||Ensembl||C|C||||chr22:g.28841970C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-6421C>G|||||||rs60468718||1||||||||||||Ensembl||C|C||||chr22:g.28841970C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-4348C>G|||||||rs60468718||1||||||||||||Ensembl||C|C||||chr22:g.28841970C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-2157C>G|||||||rs60468718||1||||||||||||Ensembl||C|C||||chr22:g.28841970C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-6421C>G|||||||rs60468718||1||||||||||||Ensembl||C|C||||chr22:g.28841970C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs60468718|1466|1||||||||||||Ensembl||C|C||||chr22:g.28841970C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||1/3|XR_002958745.2:n.429+1535C>G|||||||rs60468718||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28841970C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15579;gnomADv4_1_AC_joint_XX=7864;gnomADv4_1_AC_joint_XY=7715;gnomADv4_1_AF_grpmax_joint=0.278333;gnomADv4_1_AF_joint=0.102568;gnomADv4_1_AF_joint_XX=0.101265;gnomADv4_1_AF_joint_XY=0.103931;gnomADv4_1_AN_grpmax_joint=4800;gnomADv4_1_AN_joint=151890;gnomADv4_1_AN_joint_XX=77658;gnomADv4_1_AN_joint_XY=74232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1086;gnomADv4_1_nhomalt_joint_XX=522;gnomADv4_1_nhomalt_joint_XY=564;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28842098 chr22_28842098_G_A G A 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=5.633;CADD_Rawscore=0.516541;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs5762849|3065|1||||3||||||||Ensembl||G|G||||chr22:g.28842098G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-2029G>A|||||||rs5762849||1||||3||||||||Ensembl||G|G||||chr22:g.28842098G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-2029G>A|||||||rs5762849||1||||||||||||Ensembl||G|G||||chr22:g.28842098G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-6293G>A|||||||rs5762849||1||||||||||||Ensembl||G|G||||chr22:g.28842098G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-8149G>A|||||||rs5762849||1||||||||||||Ensembl||G|G||||chr22:g.28842098G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-2029G>A|||||||rs5762849||1||||||||||||Ensembl||G|G||||chr22:g.28842098G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-6293G>A|||||||rs5762849||1||||||||||||Ensembl||G|G||||chr22:g.28842098G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-4220G>A|||||||rs5762849||1||||||||||||Ensembl||G|G||||chr22:g.28842098G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-6293G>A|||||||rs5762849||1||||||||||||Ensembl||G|G||||chr22:g.28842098G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-4220G>A|||||||rs5762849||1||||||||||||Ensembl||G|G||||chr22:g.28842098G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-2029G>A|||||||rs5762849||1||||||||||||Ensembl||G|G||||chr22:g.28842098G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-6293G>A|||||||rs5762849||1||||||||||||Ensembl||G|G||||chr22:g.28842098G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs5762849|1594|1||||||||||||Ensembl||G|G||||chr22:g.28842098G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||1/3|XR_002958745.2:n.429+1663G>A|||||||rs5762849||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.28842098G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21110;gnomADv4_1_AC_joint_XX=10378;gnomADv4_1_AC_joint_XY=10732;gnomADv4_1_AF_grpmax_joint=0.385464;gnomADv4_1_AF_joint=0.139156;gnomADv4_1_AF_joint_XX=0.133768;gnomADv4_1_AF_joint_XY=0.144796;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=151700;gnomADv4_1_AN_joint_XX=77582;gnomADv4_1_AN_joint_XY=74118;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1927;gnomADv4_1_nhomalt_joint_XX=904;gnomADv4_1_nhomalt_joint_XY=1023;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28842794 chr22_28842794_C_G C G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.745;CADD_Rawscore=0.127901;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs113734682|3761|1||||3||||||||Ensembl||C|C||||chr22:g.28842794C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-1333C>G|||||||rs113734682||1||||3||||||||Ensembl||C|C||||chr22:g.28842794C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-1333C>G|||||||rs113734682||1||||||||||||Ensembl||C|C||||chr22:g.28842794C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-5597C>G|||||||rs113734682||1||||||||||||Ensembl||C|C||||chr22:g.28842794C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-7453C>G|||||||rs113734682||1||||||||||||Ensembl||C|C||||chr22:g.28842794C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-1333C>G|||||||rs113734682||1||||||||||||Ensembl||C|C||||chr22:g.28842794C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-5597C>G|||||||rs113734682||1||||||||||||Ensembl||C|C||||chr22:g.28842794C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-3524C>G|||||||rs113734682||1||||||||||||Ensembl||C|C||||chr22:g.28842794C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-5597C>G|||||||rs113734682||1||||||||||||Ensembl||C|C||||chr22:g.28842794C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-3524C>G|||||||rs113734682||1||||||||||||Ensembl||C|C||||chr22:g.28842794C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-1333C>G|||||||rs113734682||1||||||||||||Ensembl||C|C||||chr22:g.28842794C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-5597C>G|||||||rs113734682||1||||||||||||Ensembl||C|C||||chr22:g.28842794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs113734682|2290|1||||||||||||Ensembl||C|C||||chr22:g.28842794C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||1/3|XR_002958745.2:n.430-1333C>G|||||||rs113734682||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28842794C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4259;gnomADv4_1_AC_joint_XX=2268;gnomADv4_1_AC_joint_XY=1991;gnomADv4_1_AF_grpmax_joint=0.0440151;gnomADv4_1_AF_joint=0.0280326;gnomADv4_1_AF_joint_XX=0.029196;gnomADv4_1_AF_joint_XY=0.0268155;gnomADv4_1_AN_grpmax_joint=67954;gnomADv4_1_AN_joint=151930;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=96;gnomADv4_1_nhomalt_joint_XX=48;gnomADv4_1_nhomalt_joint_XY=48;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28842925 chr22_28842925_C_T C T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.297;CADD_Rawscore=0.049962;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs9625595|3892|1||||3||||||||Ensembl||C|C||||chr22:g.28842925C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-1202C>T|||||||rs9625595||1||||3||||||||Ensembl||C|C||||chr22:g.28842925C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-1202C>T|||||||rs9625595||1||||||||||||Ensembl||C|C||||chr22:g.28842925C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-5466C>T|||||||rs9625595||1||||||||||||Ensembl||C|C||||chr22:g.28842925C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-7322C>T|||||||rs9625595||1||||||||||||Ensembl||C|C||||chr22:g.28842925C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-1202C>T|||||||rs9625595||1||||||||||||Ensembl||C|C||||chr22:g.28842925C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-5466C>T|||||||rs9625595||1||||||||||||Ensembl||C|C||||chr22:g.28842925C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-3393C>T|||||||rs9625595||1||||||||||||Ensembl||C|C||||chr22:g.28842925C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-5466C>T|||||||rs9625595||1||||||||||||Ensembl||C|C||||chr22:g.28842925C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-3393C>T|||||||rs9625595||1||||||||||||Ensembl||C|C||||chr22:g.28842925C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-1202C>T|||||||rs9625595||1||||||||||||Ensembl||C|C||||chr22:g.28842925C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-5466C>T|||||||rs9625595||1||||||||||||Ensembl||C|C||||chr22:g.28842925C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs9625595|2421|1||||||||||||Ensembl||C|C||||chr22:g.28842925C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||1/3|XR_002958745.2:n.430-1202C>T|||||||rs9625595||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.28842925C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21028;gnomADv4_1_AC_joint_XX=10367;gnomADv4_1_AC_joint_XY=10661;gnomADv4_1_AF_grpmax_joint=0.384744;gnomADv4_1_AF_joint=0.139229;gnomADv4_1_AF_joint_XX=0.134062;gnomADv4_1_AF_joint_XY=0.14465;gnomADv4_1_AN_grpmax_joint=4798;gnomADv4_1_AN_joint=151032;gnomADv4_1_AN_joint_XX=77330;gnomADv4_1_AN_joint_XY=73702;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1913;gnomADv4_1_nhomalt_joint_XX=904;gnomADv4_1_nhomalt_joint_XY=1009;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28842969 chr22_28842969_G_GA G GA 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=4.81;CADDIndel_Rawscore=0.438183;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs36010418|3936|1||||3||||||||Ensembl|||||||chr22:g.28842982dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-1145dup|||||||rs36010418||1||||3||||||||Ensembl||||||13|chr22:g.28842982dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-1145dup|||||||rs36010418||1||||||||||||Ensembl||||||13|chr22:g.28842982dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-5409dup|||||||rs36010418||1||||||||||||Ensembl||||||13|chr22:g.28842982dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-7265dup|||||||rs36010418||1||||||||||||Ensembl||||||13|chr22:g.28842982dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-1145dup|||||||rs36010418||1||||||||||||Ensembl||||||13|chr22:g.28842982dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-5409dup|||||||rs36010418||1||||||||||||Ensembl||||||13|chr22:g.28842982dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-3336dup|||||||rs36010418||1||||||||||||Ensembl||||||13|chr22:g.28842982dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-5409dup|||||||rs36010418||1||||||||||||Ensembl||||||13|chr22:g.28842982dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-3336dup|||||||rs36010418||1||||||||||||Ensembl||||||13|chr22:g.28842982dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-1145dup|||||||rs36010418||1||||||||||||Ensembl||||||13|chr22:g.28842982dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-5409dup|||||||rs36010418||1||||||||||||Ensembl||||||13|chr22:g.28842982dup|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs36010418|2465|1||||||||||||Ensembl|||||||chr22:g.28842982dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||1/3|XR_002958745.2:n.430-1145dup|||||||rs36010418||1||EntrezGene||||||||||RefSeq||||||13|chr22:g.28842982dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47315;gnomADv4_1_AC_joint_XX=24125;gnomADv4_1_AC_joint_XY=23190;gnomADv4_1_AF_grpmax_joint=0.673825;gnomADv4_1_AF_joint=0.334708;gnomADv4_1_AF_joint_XX=0.329784;gnomADv4_1_AF_joint_XY=0.339989;gnomADv4_1_AN_grpmax_joint=4936;gnomADv4_1_AN_joint=141362;gnomADv4_1_AN_joint_XX=73154;gnomADv4_1_AN_joint_XY=68208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8467;gnomADv4_1_nhomalt_joint_XX=4288;gnomADv4_1_nhomalt_joint_XY=4179;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28843169 chr22_28843169_A_G A G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.299;CADD_Rawscore=0.050343;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs7287124|4136|1||||3||||||||Ensembl||A|A||||chr22:g.28843169A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-958A>G|||||||rs7287124||1||||3||||||||Ensembl||A|A||||chr22:g.28843169A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-958A>G|||||||rs7287124||1||||||||||||Ensembl||A|A||||chr22:g.28843169A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-5222A>G|||||||rs7287124||1||||||||||||Ensembl||A|A||||chr22:g.28843169A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-7078A>G|||||||rs7287124||1||||||||||||Ensembl||A|A||||chr22:g.28843169A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-958A>G|||||||rs7287124||1||||||||||||Ensembl||A|A||||chr22:g.28843169A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-5222A>G|||||||rs7287124||1||||||||||||Ensembl||A|A||||chr22:g.28843169A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-3149A>G|||||||rs7287124||1||||||||||||Ensembl||A|A||||chr22:g.28843169A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-5222A>G|||||||rs7287124||1||||||||||||Ensembl||A|A||||chr22:g.28843169A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-3149A>G|||||||rs7287124||1||||||||||||Ensembl||A|A||||chr22:g.28843169A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-958A>G|||||||rs7287124||1||||||||||||Ensembl||A|A||||chr22:g.28843169A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-5222A>G|||||||rs7287124||1||||||||||||Ensembl||A|A||||chr22:g.28843169A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs7287124|2665|1||||||||||||Ensembl||A|A||||chr22:g.28843169A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||1/3|XR_002958745.2:n.430-958A>G|||||||rs7287124||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28843169A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49152;gnomADv4_1_AC_joint_XX=24830;gnomADv4_1_AC_joint_XY=24322;gnomADv4_1_AF_grpmax_joint=0.673525;gnomADv4_1_AF_joint=0.323449;gnomADv4_1_AF_joint_XX=0.319628;gnomADv4_1_AF_joint_XY=0.327446;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151962;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9018;gnomADv4_1_nhomalt_joint_XX=4510;gnomADv4_1_nhomalt_joint_XY=4508;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28843262 chr22_28843262_T_C T C 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=3.698;CADD_Rawscore=0.33845;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs12628211|4229|1||||3||||||||Ensembl||T|T||||chr22:g.28843262T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-865T>C|||||||rs12628211||1||||3||||||||Ensembl||T|T||||chr22:g.28843262T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-865T>C|||||||rs12628211||1||||||||||||Ensembl||T|T||||chr22:g.28843262T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-5129T>C|||||||rs12628211||1||||||||||||Ensembl||T|T||||chr22:g.28843262T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-6985T>C|||||||rs12628211||1||||||||||||Ensembl||T|T||||chr22:g.28843262T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-865T>C|||||||rs12628211||1||||||||||||Ensembl||T|T||||chr22:g.28843262T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-5129T>C|||||||rs12628211||1||||||||||||Ensembl||T|T||||chr22:g.28843262T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-3056T>C|||||||rs12628211||1||||||||||||Ensembl||T|T||||chr22:g.28843262T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-5129T>C|||||||rs12628211||1||||||||||||Ensembl||T|T||||chr22:g.28843262T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-3056T>C|||||||rs12628211||1||||||||||||Ensembl||T|T||||chr22:g.28843262T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-865T>C|||||||rs12628211||1||||||||||||Ensembl||T|T||||chr22:g.28843262T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-5129T>C|||||||rs12628211||1||||||||||||Ensembl||T|T||||chr22:g.28843262T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs12628211|2758|1||||||||||||Ensembl||T|T||||chr22:g.28843262T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||1/3|XR_002958745.2:n.430-865T>C|||||||rs12628211||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28843262T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49230;gnomADv4_1_AC_joint_XX=24876;gnomADv4_1_AC_joint_XY=24354;gnomADv4_1_AF_grpmax_joint=0.675039;gnomADv4_1_AF_joint=0.323673;gnomADv4_1_AF_joint_XX=0.319891;gnomADv4_1_AF_joint_XY=0.327629;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9042;gnomADv4_1_nhomalt_joint_XX=4520;gnomADv4_1_nhomalt_joint_XY=4522;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28843641 chr22_28843641_A_AAG A AAG 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.469;CADDIndel_Rawscore=-0.209017;CSQ=AG|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs59010341|4608|1||||3||||||||Ensembl|||||||chr22:g.28843660_28843661dup|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-467_264-466dup|||||||rs59010341||1||||3||||||||Ensembl||||||20|chr22:g.28843660_28843661dup|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-467_269-466dup|||||||rs59010341||1||||||||||||Ensembl||||||20|chr22:g.28843660_28843661dup|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-4731_267-4730dup|||||||rs59010341||1||||||||||||Ensembl||||||20|chr22:g.28843660_28843661dup|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-6587_266-6586dup|||||||rs59010341||1||||||||||||Ensembl||||||20|chr22:g.28843660_28843661dup|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-467_263-466dup|||||||rs59010341||1||||||||||||Ensembl||||||20|chr22:g.28843660_28843661dup|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-4731_51-4730dup|||||||rs59010341||1||||||||||||Ensembl||||||20|chr22:g.28843660_28843661dup|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-2658_259-2657dup|||||||rs59010341||1||||||||||||Ensembl||||||20|chr22:g.28843660_28843661dup|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-4731_276-4730dup|||||||rs59010341||1||||||||||||Ensembl||||||20|chr22:g.28843660_28843661dup|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-2658_264-2657dup|||||||rs59010341||1||||||||||||Ensembl||||||20|chr22:g.28843660_28843661dup|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-467_56-466dup|||||||rs59010341||1||||||||||||Ensembl||||||20|chr22:g.28843660_28843661dup|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-4731_316-4730dup|||||||rs59010341||1||||||||||||Ensembl||||||20|chr22:g.28843660_28843661dup|||||||||||||,AG|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs59010341|3137|1||||||||||||Ensembl|||||||chr22:g.28843660_28843661dup|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||1/3|XR_002958745.2:n.430-467_430-466dup|||||||rs59010341||1||EntrezGene||||||||||RefSeq||||||20|chr22:g.28843660_28843661dup|||||||||||||;TYPE=INDEL;VEP_Allele=AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20487;gnomADv4_1_AC_joint_XX=10230;gnomADv4_1_AC_joint_XY=10257;gnomADv4_1_AF_grpmax_joint=0.399152;gnomADv4_1_AF_joint=0.139732;gnomADv4_1_AF_joint_XX=0.135626;gnomADv4_1_AF_joint_XY=0.144083;gnomADv4_1_AN_grpmax_joint=4482;gnomADv4_1_AN_joint=146616;gnomADv4_1_AN_joint_XX=75428;gnomADv4_1_AN_joint_XY=71188;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1762;gnomADv4_1_nhomalt_joint_XX=842;gnomADv4_1_nhomalt_joint_XY=920;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28843778 chr22_28843778_T_C T C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.47;CADD_Rawscore=0.220422;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000418292|lncRNA||||||||||rs10427628|4745|1||||3||||||||Ensembl||T|T||||chr22:g.28843778T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||2/3|ENST00000458080.2:n.264-349T>C|||||||rs10427628||1||||3||||||||Ensembl||T|T||||chr22:g.28843778T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||2/2|ENST00000687270.2:n.269-349T>C|||||||rs10427628||1||||||||||||Ensembl||T|T||||chr22:g.28843778T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-4613T>C|||||||rs10427628||1||||||||||||Ensembl||T|T||||chr22:g.28843778T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-6469T>C|||||||rs10427628||1||||||||||||Ensembl||T|T||||chr22:g.28843778T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||2/5|ENST00000810420.1:n.263-349T>C|||||||rs10427628||1||||||||||||Ensembl||T|T||||chr22:g.28843778T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-4613T>C|||||||rs10427628||1||||||||||||Ensembl||T|T||||chr22:g.28843778T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-2540T>C|||||||rs10427628||1||||||||||||Ensembl||T|T||||chr22:g.28843778T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-4613T>C|||||||rs10427628||1||||||||||||Ensembl||T|T||||chr22:g.28843778T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-2540T>C|||||||rs10427628||1||||||||||||Ensembl||T|T||||chr22:g.28843778T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||1/1|ENST00000810425.1:n.56-349T>C|||||||rs10427628||1||||||||||||Ensembl||T|T||||chr22:g.28843778T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-4613T>C|||||||rs10427628||1||||||||||||Ensembl||T|T||||chr22:g.28843778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs10427628|3274|1||||||||||||Ensembl||T|T||||chr22:g.28843778T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||1/3|XR_002958745.2:n.430-349T>C|||||||rs10427628||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28843778T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000418292,ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29362;gnomADv4_1_AC_joint_XX=14657;gnomADv4_1_AC_joint_XY=14705;gnomADv4_1_AF_grpmax_joint=0.425642;gnomADv4_1_AF_joint=0.193019;gnomADv4_1_AF_joint_XX=0.188534;gnomADv4_1_AF_joint_XY=0.197706;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3196;gnomADv4_1_nhomalt_joint_XX=1537;gnomADv4_1_nhomalt_joint_XY=1659;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28844431 chr22_28844431_A_G A G 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=2.643;CADD_Rawscore=0.238939;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||3/3|ENST00000458080.2:n.336+232A>G|||||||rs71327320||1||||3||||||||Ensembl||A|A||||chr22:g.28844431A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA|3/3||ENST00000687270.2:n.573A>G||573|||||rs71327320||1||||||||||||Ensembl||A|A||||chr22:g.28844431A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-3960A>G|||||||rs71327320||1||||||||||||Ensembl||A|A||||chr22:g.28844431A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-5816A>G|||||||rs71327320||1||||||||||||Ensembl||A|A||||chr22:g.28844431A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||3/5|ENST00000810420.1:n.335+232A>G|||||||rs71327320||1||||||||||||Ensembl||A|A||||chr22:g.28844431A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-3960A>G|||||||rs71327320||1||||||||||||Ensembl||A|A||||chr22:g.28844431A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-1887A>G|||||||rs71327320||1||||||||||||Ensembl||A|A||||chr22:g.28844431A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-3960A>G|||||||rs71327320||1||||||||||||Ensembl||A|A||||chr22:g.28844431A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-1887A>G|||||||rs71327320||1||||||||||||Ensembl||A|A||||chr22:g.28844431A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA|2/2||ENST00000810425.1:n.360A>G||360|||||rs71327320||1||||||||||||Ensembl||A|A||||chr22:g.28844431A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-3960A>G|||||||rs71327320||1||||||||||||Ensembl||A|A||||chr22:g.28844431A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs71327320|3927|1||||||||||||Ensembl||A|A||||chr22:g.28844431A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA|2/4||XR_002958745.2:n.734A>G||734|||||rs71327320||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28844431A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26706;gnomADv4_1_AC_joint_XX=12827;gnomADv4_1_AC_joint_XY=13879;gnomADv4_1_AF_grpmax_joint=0.361894;gnomADv4_1_AF_joint=0.216963;gnomADv4_1_AF_joint_XX=0.218839;gnomADv4_1_AF_joint_XY=0.215258;gnomADv4_1_AN_grpmax_joint=6886;gnomADv4_1_AN_joint=123090;gnomADv4_1_AN_joint_XX=58614;gnomADv4_1_AN_joint_XY=64476;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3031;gnomADv4_1_nhomalt_joint_XX=1412;gnomADv4_1_nhomalt_joint_XY=1619;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28844449 chr22_28844449_G_GGAA G GGAA 28 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=28;CADDIndel_PHREDscore=0.853;CADDIndel_Rawscore=-0.058716;CSQ=GAA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||3/3|ENST00000458080.2:n.336+317_336+319dup|||||||rs67002419||1||||3||||||||Ensembl||||||69|chr22:g.28844516_28844518dup|||||||||||||,GAA|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA|3/3||ENST00000687270.2:n.658_660dup||591-592|||||rs67002419||1||||||||||||Ensembl||||||69|chr22:g.28844516_28844518dup|||||||||||||,GAA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-3875_267-3873dup|||||||rs67002419||1||||||||||||Ensembl||||||69|chr22:g.28844516_28844518dup|||||||||||||,GAA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-5731_266-5729dup|||||||rs67002419||1||||||||||||Ensembl||||||69|chr22:g.28844516_28844518dup|||||||||||||,GAA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||3/5|ENST00000810420.1:n.335+317_335+319dup|||||||rs67002419||1||||||||||||Ensembl||||||69|chr22:g.28844516_28844518dup|||||||||||||,GAA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-3875_51-3873dup|||||||rs67002419||1||||||||||||Ensembl||||||69|chr22:g.28844516_28844518dup|||||||||||||,GAA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-1802_259-1800dup|||||||rs67002419||1||||||||||||Ensembl||||||69|chr22:g.28844516_28844518dup|||||||||||||,GAA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-3875_276-3873dup|||||||rs67002419||1||||||||||||Ensembl||||||69|chr22:g.28844516_28844518dup|||||||||||||,GAA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-1802_264-1800dup|||||||rs67002419||1||||||||||||Ensembl||||||69|chr22:g.28844516_28844518dup|||||||||||||,GAA|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA|2/2||ENST00000810425.1:n.445_447dup||378-379|||||rs67002419||1||||||||||||Ensembl||||||69|chr22:g.28844516_28844518dup|||||||||||||,GAA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-3875_316-3873dup|||||||rs67002419||1||||||||||||Ensembl||||||69|chr22:g.28844516_28844518dup|||||||||||||,GAA|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs67002419|3945|1||||||||||||Ensembl|||||||chr22:g.28844516_28844518dup|||||||||||||,GAA|non_coding_transcript_exon_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA|2/4||XR_002958745.2:n.819_821dup||752-753|||||rs67002419||1||EntrezGene||||||||||RefSeq||||||69|chr22:g.28844516_28844518dup|||||||||||||;TYPE=INDEL;VEP_Allele=GAA,GAA,GAA,GAA,GAA,GAA,GAA,GAA,GAA,GAA,GAA,GAA,GAA;VEP_Feature=ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8916;gnomADv4_1_AC_joint_XX=4842;gnomADv4_1_AC_joint_XY=4074;gnomADv4_1_AF_grpmax_joint=0.130452;gnomADv4_1_AF_joint=0.10455;gnomADv4_1_AF_joint_XX=0.110872;gnomADv4_1_AF_joint_XY=0.0979139;gnomADv4_1_AN_grpmax_joint=45810;gnomADv4_1_AN_joint=85280;gnomADv4_1_AN_joint_XX=43672;gnomADv4_1_AN_joint_XY=41608;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=877;gnomADv4_1_nhomalt_joint_XX=471;gnomADv4_1_nhomalt_joint_XY=406;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28844453 chr22_28844453_GA_G GA G 27 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=27;CADDIndel_PHREDscore=0.733;CADDIndel_Rawscore=-0.097404;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||3/3|ENST00000458080.2:n.336+256del|||||||rs769434355||1||||3||||||||Ensembl||A|A|||1|chr22:g.28844455del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA|3/3||ENST00000687270.2:n.597del||596|||||rs769434355||1||||||||||||Ensembl||A|A|||1|chr22:g.28844455del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-3936del|||||||rs769434355||1||||||||||||Ensembl||A|A|||1|chr22:g.28844455del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-5792del|||||||rs769434355||1||||||||||||Ensembl||A|A|||1|chr22:g.28844455del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||3/5|ENST00000810420.1:n.335+256del|||||||rs769434355||1||||||||||||Ensembl||A|A|||1|chr22:g.28844455del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-3936del|||||||rs769434355||1||||||||||||Ensembl||A|A|||1|chr22:g.28844455del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-1863del|||||||rs769434355||1||||||||||||Ensembl||A|A|||1|chr22:g.28844455del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-3936del|||||||rs769434355||1||||||||||||Ensembl||A|A|||1|chr22:g.28844455del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-1863del|||||||rs769434355||1||||||||||||Ensembl||A|A|||1|chr22:g.28844455del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA|2/2||ENST00000810425.1:n.384del||383|||||rs769434355||1||||||||||||Ensembl||A|A|||1|chr22:g.28844455del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-3936del|||||||rs769434355||1||||||||||||Ensembl||A|A|||1|chr22:g.28844455del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs769434355|3950|1||||||||||||Ensembl||A|A||||chr22:g.28844455del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA|2/4||XR_002958745.2:n.758del||757|||||rs769434355||1||EntrezGene||||||||||RefSeq||A|A|||1|chr22:g.28844455del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34907;gnomADv4_1_AC_joint_XX=17641;gnomADv4_1_AC_joint_XY=17266;gnomADv4_1_AF_grpmax_joint=0.627483;gnomADv4_1_AF_joint=0.27798;gnomADv4_1_AF_joint_XX=0.285703;gnomADv4_1_AF_joint_XY=0.270508;gnomADv4_1_AN_grpmax_joint=4228;gnomADv4_1_AN_joint=125574;gnomADv4_1_AN_joint_XX=61746;gnomADv4_1_AN_joint_XY=63828;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5801;gnomADv4_1_nhomalt_joint_XX=2835;gnomADv4_1_nhomalt_joint_XY=2966;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28844456 chr22_28844456_GAAGAAGAAGAAGAA_G GAAGAAGAAGAAGAA G 29 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=29;CADDIndel_PHREDscore=0.613;CADDIndel_Rawscore=-0.142144;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||3/3|ENST00000458080.2:n.336+258_336+271del|||||||rs753413930||1||||3||||||||Ensembl||AAGAAGAAGAAGAA|AAGAAGAAGAAGAA||||chr22:g.28844457_28844470del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA|3/3||ENST00000687270.2:n.599_612del||599-612|||||rs753413930||1||||||||||||Ensembl||AAGAAGAAGAAGAA|AAGAAGAAGAAGAA||||chr22:g.28844457_28844470del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-3934_267-3921del|||||||rs753413930||1||||||||||||Ensembl||AAGAAGAAGAAGAA|AAGAAGAAGAAGAA||||chr22:g.28844457_28844470del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-5790_266-5777del|||||||rs753413930||1||||||||||||Ensembl||AAGAAGAAGAAGAA|AAGAAGAAGAAGAA||||chr22:g.28844457_28844470del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||3/5|ENST00000810420.1:n.335+258_335+271del|||||||rs753413930||1||||||||||||Ensembl||AAGAAGAAGAAGAA|AAGAAGAAGAAGAA||||chr22:g.28844457_28844470del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-3934_51-3921del|||||||rs753413930||1||||||||||||Ensembl||AAGAAGAAGAAGAA|AAGAAGAAGAAGAA||||chr22:g.28844457_28844470del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-1861_259-1848del|||||||rs753413930||1||||||||||||Ensembl||AAGAAGAAGAAGAA|AAGAAGAAGAAGAA||||chr22:g.28844457_28844470del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-3934_276-3921del|||||||rs753413930||1||||||||||||Ensembl||AAGAAGAAGAAGAA|AAGAAGAAGAAGAA||||chr22:g.28844457_28844470del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-1861_264-1848del|||||||rs753413930||1||||||||||||Ensembl||AAGAAGAAGAAGAA|AAGAAGAAGAAGAA||||chr22:g.28844457_28844470del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA|2/2||ENST00000810425.1:n.386_399del||386-399|||||rs753413930||1||||||||||||Ensembl||AAGAAGAAGAAGAA|AAGAAGAAGAAGAA||||chr22:g.28844457_28844470del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-3934_316-3921del|||||||rs753413930||1||||||||||||Ensembl||AAGAAGAAGAAGAA|AAGAAGAAGAAGAA||||chr22:g.28844457_28844470del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs753413930|3953|1||||||||||||Ensembl||AAGAAGAAGAAGAA|AAGAAGAAGAAGAA||||chr22:g.28844457_28844470del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA|2/4||XR_002958745.2:n.760_773del||760-773|||||rs753413930||1||EntrezGene||||||||||RefSeq||AAGAAGAAGAAGAA|AAGAAGAAGAAGAA||||chr22:g.28844457_28844470del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18133;gnomADv4_1_AC_joint_XX=9281;gnomADv4_1_AC_joint_XY=8852;gnomADv4_1_AF_grpmax_joint=0.283099;gnomADv4_1_AF_joint=0.124381;gnomADv4_1_AF_joint_XX=0.130377;gnomADv4_1_AF_joint_XY=0.11866;gnomADv4_1_AN_grpmax_joint=4260;gnomADv4_1_AN_joint=145786;gnomADv4_1_AN_joint_XX=71186;gnomADv4_1_AN_joint_XY=74600;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1651;gnomADv4_1_nhomalt_joint_XX=831;gnomADv4_1_nhomalt_joint_XY=820;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28844476 chr22_28844476_A_G A G 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=2.918;CADD_Rawscore=0.266545;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||3/3|ENST00000458080.2:n.336+277A>G|||||||rs146772100||1||||3||||||||Ensembl||A|A||||chr22:g.28844476A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA|3/3||ENST00000687270.2:n.618A>G||618|||||rs146772100||1||||||||||||Ensembl||A|A||||chr22:g.28844476A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-3915A>G|||||||rs146772100||1||||||||||||Ensembl||A|A||||chr22:g.28844476A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-5771A>G|||||||rs146772100||1||||||||||||Ensembl||A|A||||chr22:g.28844476A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||3/5|ENST00000810420.1:n.335+277A>G|||||||rs146772100||1||||||||||||Ensembl||A|A||||chr22:g.28844476A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-3915A>G|||||||rs146772100||1||||||||||||Ensembl||A|A||||chr22:g.28844476A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-1842A>G|||||||rs146772100||1||||||||||||Ensembl||A|A||||chr22:g.28844476A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-3915A>G|||||||rs146772100||1||||||||||||Ensembl||A|A||||chr22:g.28844476A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-1842A>G|||||||rs146772100||1||||||||||||Ensembl||A|A||||chr22:g.28844476A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA|2/2||ENST00000810425.1:n.405A>G||405|||||rs146772100||1||||||||||||Ensembl||A|A||||chr22:g.28844476A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-3915A>G|||||||rs146772100||1||||||||||||Ensembl||A|A||||chr22:g.28844476A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810432|lncRNA||||||||||rs146772100|3972|1||||||||||||Ensembl||A|A||||chr22:g.28844476A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA|2/4||XR_002958745.2:n.779A>G||779|||||rs146772100||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28844476A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,ENST00000810432,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21408;gnomADv4_1_AC_joint_XX=10990;gnomADv4_1_AC_joint_XY=10418;gnomADv4_1_AF_grpmax_joint=0.316719;gnomADv4_1_AF_joint=0.135962;gnomADv4_1_AF_joint_XX=0.143559;gnomADv4_1_AF_joint_XY=0.128773;gnomADv4_1_AN_grpmax_joint=4474;gnomADv4_1_AN_joint=157456;gnomADv4_1_AN_joint_XX=76554;gnomADv4_1_AN_joint_XY=80902;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2301;gnomADv4_1_nhomalt_joint_XX=1155;gnomADv4_1_nhomalt_joint_XY=1146;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28846052 chr22_28846052_CAAAA_C CAAAA C 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.467;CADDIndel_Rawscore=-0.210355;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||3/3|ENST00000458080.2:n.336+1871_336+1874del|||||||rs776468340||1||||3||||||||Ensembl||AAAA|AAAA|||17|chr22:g.28846070_28846073del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||||||||||rs776468340|1163|1||||||||||||Ensembl||AAAA|AAAA||||chr22:g.28846070_28846073del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-2321_267-2318del|||||||rs776468340||1||||||||||||Ensembl||AAAA|AAAA|||17|chr22:g.28846070_28846073del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-4177_266-4174del|||||||rs776468340||1||||||||||||Ensembl||AAAA|AAAA|||17|chr22:g.28846070_28846073del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||3/5|ENST00000810420.1:n.336-248_336-245del|||||||rs776468340||1||||||||||||Ensembl||AAAA|AAAA|||17|chr22:g.28846070_28846073del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-2321_51-2318del|||||||rs776468340||1||||||||||||Ensembl||AAAA|AAAA|||17|chr22:g.28846070_28846073del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-248_259-245del|||||||rs776468340||1||||||||||||Ensembl||AAAA|AAAA|||17|chr22:g.28846070_28846073del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-2321_276-2318del|||||||rs776468340||1||||||||||||Ensembl||AAAA|AAAA|||17|chr22:g.28846070_28846073del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-248_264-245del|||||||rs776468340||1||||||||||||Ensembl||AAAA|AAAA|||17|chr22:g.28846070_28846073del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||||||||||rs776468340|1166|1||||||||||||Ensembl||AAAA|AAAA||||chr22:g.28846070_28846073del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-2321_316-2318del|||||||rs776468340||1||||||||||||Ensembl||AAAA|AAAA|||17|chr22:g.28846070_28846073del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||2/3|XR_002958745.2:n.1364-248_1364-245del|||||||rs776468340||1||EntrezGene||||||||||RefSeq||AAAA|AAAA|||17|chr22:g.28846070_28846073del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12965;gnomADv4_1_AC_joint_XX=6936;gnomADv4_1_AC_joint_XY=6029;gnomADv4_1_AF_grpmax_joint=0.451186;gnomADv4_1_AF_joint=0.226732;gnomADv4_1_AF_joint_XX=0.227514;gnomADv4_1_AF_joint_XY=0.225839;gnomADv4_1_AN_grpmax_joint=2192;gnomADv4_1_AN_joint=57182;gnomADv4_1_AN_joint_XX=30486;gnomADv4_1_AN_joint_XY=26696;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=777;gnomADv4_1_nhomalt_joint_XX=399;gnomADv4_1_nhomalt_joint_XY=378;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28846072 chr22_28846072_A_G A G 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.08;CADD_Rawscore=0.174307;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||3/3|ENST00000458080.2:n.336+1873A>G|||||||rs5762851||1||||3||||||||Ensembl||A|A||||chr22:g.28846072A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||||||||||rs5762851|1182|1||||||||||||Ensembl||A|A||||chr22:g.28846072A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-2319A>G|||||||rs5762851||1||||||||||||Ensembl||A|A||||chr22:g.28846072A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-4175A>G|||||||rs5762851||1||||||||||||Ensembl||A|A||||chr22:g.28846072A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||3/5|ENST00000810420.1:n.336-246A>G|||||||rs5762851||1||||||||||||Ensembl||A|A||||chr22:g.28846072A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-2319A>G|||||||rs5762851||1||||||||||||Ensembl||A|A||||chr22:g.28846072A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||2/4|ENST00000810422.1:n.259-246A>G|||||||rs5762851||1||||||||||||Ensembl||A|A||||chr22:g.28846072A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-2319A>G|||||||rs5762851||1||||||||||||Ensembl||A|A||||chr22:g.28846072A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||2/3|ENST00000810424.1:n.264-246A>G|||||||rs5762851||1||||||||||||Ensembl||A|A||||chr22:g.28846072A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||||||||||rs5762851|1185|1||||||||||||Ensembl||A|A||||chr22:g.28846072A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-2319A>G|||||||rs5762851||1||||||||||||Ensembl||A|A||||chr22:g.28846072A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||2/3|XR_002958745.2:n.1364-246A>G|||||||rs5762851||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28846072A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15055;gnomADv4_1_AC_joint_XX=7767;gnomADv4_1_AC_joint_XY=7288;gnomADv4_1_AF_grpmax_joint=0.278389;gnomADv4_1_AF_joint=0.102411;gnomADv4_1_AF_joint_XX=0.102332;gnomADv4_1_AF_joint_XY=0.102495;gnomADv4_1_AN_grpmax_joint=4544;gnomADv4_1_AN_joint=147006;gnomADv4_1_AN_joint_XX=75900;gnomADv4_1_AN_joint_XY=71106;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1080;gnomADv4_1_nhomalt_joint_XX=525;gnomADv4_1_nhomalt_joint_XY=555;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28846485 chr22_28846485_T_C T C 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=8.275;CADD_Rawscore=0.798835;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||3/3|ENST00000458080.2:n.337-1906T>C|||||||rs5762852||1||||3||||||||Ensembl||T|T||||chr22:g.28846485T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||||||||||rs5762852|1595|1||||||||||||Ensembl||T|T||||chr22:g.28846485T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-1906T>C|||||||rs5762852||1||||||||||||Ensembl||T|T||||chr22:g.28846485T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-3762T>C|||||||rs5762852||1||||||||||||Ensembl||T|T||||chr22:g.28846485T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA|4/6||ENST00000810420.1:n.503T>C||503|||||rs5762852||1||||||||||||Ensembl||T|T||||chr22:g.28846485T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-1906T>C|||||||rs5762852||1||||||||||||Ensembl||T|T||||chr22:g.28846485T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA|3/5||ENST00000810422.1:n.426T>C||426|||||rs5762852||1||||||||||||Ensembl||T|T||||chr22:g.28846485T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-1906T>C|||||||rs5762852||1||||||||||||Ensembl||T|T||||chr22:g.28846485T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA|3/4||ENST00000810424.1:n.431T>C||431|||||rs5762852||1||||||||||||Ensembl||T|T||||chr22:g.28846485T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||||||||||rs5762852|1598|1||||||||||||Ensembl||T|T||||chr22:g.28846485T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-1906T>C|||||||rs5762852||1||||||||||||Ensembl||T|T||||chr22:g.28846485T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA|3/4||XR_002958745.2:n.1531T>C||1531|||||rs5762852||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28846485T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21156;gnomADv4_1_AC_joint_XX=10399;gnomADv4_1_AC_joint_XY=10757;gnomADv4_1_AF_grpmax_joint=0.385222;gnomADv4_1_AF_joint=0.139069;gnomADv4_1_AF_joint_XX=0.133746;gnomADv4_1_AF_joint_XY=0.144634;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1927;gnomADv4_1_nhomalt_joint_XX=905;gnomADv4_1_nhomalt_joint_XY=1022;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28848203 chr22_28848203_C_CATTTATTT C CATTTATTT 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=1.295;CADDIndel_Rawscore=0.049559;CSQ=ATTTATTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||3/3|ENST00000458080.2:n.337-164_337-157dup|||||||rs60700733||1||||3||||||||Ensembl||||||31|chr22:g.28848227_28848234dup|||||||||||||,ATTTATTT|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||||||||||rs60700733|3313|1||||||||||||Ensembl|||||||chr22:g.28848227_28848234dup|||||||||||||,ATTTATTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||2/3|ENST00000810418.1:n.267-164_267-157dup|||||||rs60700733||1||||||||||||Ensembl||||||31|chr22:g.28848227_28848234dup|||||||||||||,ATTTATTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-2020_266-2013dup|||||||rs60700733||1||||||||||||Ensembl||||||31|chr22:g.28848227_28848234dup|||||||||||||,ATTTATTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||4/5|ENST00000810420.1:n.531-164_531-157dup|||||||rs60700733||1||||||||||||Ensembl||||||31|chr22:g.28848227_28848234dup|||||||||||||,ATTTATTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||1/2|ENST00000810421.1:n.51-164_51-157dup|||||||rs60700733||1||||||||||||Ensembl||||||31|chr22:g.28848227_28848234dup|||||||||||||,ATTTATTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||3/4|ENST00000810422.1:n.454-164_454-157dup|||||||rs60700733||1||||||||||||Ensembl||||||31|chr22:g.28848227_28848234dup|||||||||||||,ATTTATTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||2/2|ENST00000810423.1:n.276-164_276-157dup|||||||rs60700733||1||||||||||||Ensembl||||||31|chr22:g.28848227_28848234dup|||||||||||||,ATTTATTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||3/3|ENST00000810424.1:n.459-164_459-157dup|||||||rs60700733||1||||||||||||Ensembl||||||31|chr22:g.28848227_28848234dup|||||||||||||,ATTTATTT|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||||||||||rs60700733|3316|1||||||||||||Ensembl|||||||chr22:g.28848227_28848234dup|||||||||||||,ATTTATTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||2/2|ENST00000810426.1:n.316-164_316-157dup|||||||rs60700733||1||||||||||||Ensembl||||||31|chr22:g.28848227_28848234dup|||||||||||||,ATTTATTT|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||3/3|XR_002958745.2:n.1559-164_1559-157dup|||||||rs60700733||1||EntrezGene||||||||||RefSeq||||||31|chr22:g.28848227_28848234dup|||||||||||||;TYPE=INDEL;VEP_Allele=ATTTATTT,ATTTATTT,ATTTATTT,ATTTATTT,ATTTATTT,ATTTATTT,ATTTATTT,ATTTATTT,ATTTATTT,ATTTATTT,ATTTATTT,ATTTATTT;VEP_Feature=ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36702;gnomADv4_1_AC_joint_XX=18627;gnomADv4_1_AC_joint_XY=18075;gnomADv4_1_AF_grpmax_joint=0.553347;gnomADv4_1_AF_joint=0.248077;gnomADv4_1_AF_joint_XX=0.245241;gnomADv4_1_AF_joint_XY=0.25107;gnomADv4_1_AN_grpmax_joint=4930;gnomADv4_1_AN_joint=147946;gnomADv4_1_AN_joint_XX=75954;gnomADv4_1_AN_joint_XY=71992;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5182;gnomADv4_1_nhomalt_joint_XX=2589;gnomADv4_1_nhomalt_joint_XY=2593;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28848407 chr22_28848407_T_C T C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.826;CADD_Rawscore=0.34982;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA|4/4||ENST00000458080.2:n.353T>C||353|||||rs9625600||1||||3||||||||Ensembl||T|T||||chr22:g.28848407T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||||||||||rs9625600|3517|1||||||||||||Ensembl||T|T||||chr22:g.28848407T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA|3/4||ENST00000810418.1:n.283T>C||283|||||rs9625600||1||||||||||||Ensembl||T|T||||chr22:g.28848407T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-1840T>C|||||||rs9625600||1||||||||||||Ensembl||T|T||||chr22:g.28848407T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA|5/6||ENST00000810420.1:n.547T>C||547|||||rs9625600||1||||||||||||Ensembl||T|T||||chr22:g.28848407T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA|2/3||ENST00000810421.1:n.67T>C||67|||||rs9625600||1||||||||||||Ensembl||T|T||||chr22:g.28848407T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA|4/5||ENST00000810422.1:n.470T>C||470|||||rs9625600||1||||||||||||Ensembl||T|T||||chr22:g.28848407T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA|3/3||ENST00000810423.1:n.292T>C||292|||||rs9625600||1||||||||||||Ensembl||T|T||||chr22:g.28848407T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA|4/4||ENST00000810424.1:n.475T>C||475|||||rs9625600||1||||||||||||Ensembl||T|T||||chr22:g.28848407T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||||||||||rs9625600|3520|1||||||||||||Ensembl||T|T||||chr22:g.28848407T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA|3/3||ENST00000810426.1:n.332T>C||332|||||rs9625600||1||||||||||||Ensembl||T|T||||chr22:g.28848407T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA|4/4||XR_002958745.2:n.1575T>C||1575|||||rs9625600||1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28848407T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21101;gnomADv4_1_AC_joint_XX=10357;gnomADv4_1_AC_joint_XY=10744;gnomADv4_1_AF_grpmax_joint=0.384103;gnomADv4_1_AF_joint=0.138841;gnomADv4_1_AF_joint_XX=0.13335;gnomADv4_1_AF_joint_XY=0.14458;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=151980;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1917;gnomADv4_1_nhomalt_joint_XX=893;gnomADv4_1_nhomalt_joint_XY=1024;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28848998 chr22_28848998_G_GT G GT 23 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=23;CADDIndel_PHREDscore=0.811;CADDIndel_Rawscore=-0.071495;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs572915237|436|1||||3||||||||Ensembl|||||||chr22:g.28849016dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||||||||||rs572915237|4108|1||||||||||||Ensembl|||||||chr22:g.28849016dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||3/3|ENST00000810418.1:n.347+545dup|||||||rs572915237||1||||||||||||Ensembl||||||18|chr22:g.28849016dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-1231dup|||||||rs572915237||1||||||||||||Ensembl||||||18|chr22:g.28849016dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||5/5|ENST00000810420.1:n.611+545dup|||||||rs572915237||1||||||||||||Ensembl||||||18|chr22:g.28849016dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||2/2|ENST00000810421.1:n.131+545dup|||||||rs572915237||1||||||||||||Ensembl||||||18|chr22:g.28849016dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||4/4|ENST00000810422.1:n.534+545dup|||||||rs572915237||1||||||||||||Ensembl||||||18|chr22:g.28849016dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs572915237|426|1||||||||||||Ensembl|||||||chr22:g.28849016dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs572915237|442|1||||||||||||Ensembl|||||||chr22:g.28849016dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||||||||||rs572915237|4111|1||||||||||||Ensembl|||||||chr22:g.28849016dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs572915237|445|1||||||||||||Ensembl|||||||chr22:g.28849016dup|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs572915237|445|1||EntrezGene||||||||||RefSeq|||||||chr22:g.28849016dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8786;gnomADv4_1_AC_joint_XX=4507;gnomADv4_1_AC_joint_XY=4279;gnomADv4_1_AF_grpmax_joint=0.172043;gnomADv4_1_AF_joint=0.0661756;gnomADv4_1_AF_joint_XX=0.0652659;gnomADv4_1_AF_joint_XY=0.0671616;gnomADv4_1_AN_grpmax_joint=4464;gnomADv4_1_AN_joint=132768;gnomADv4_1_AN_joint_XX=69056;gnomADv4_1_AN_joint_XY=63712;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=452;gnomADv4_1_nhomalt_joint_XX=217;gnomADv4_1_nhomalt_joint_XY=235;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28849243 chr22_28849243_T_G T G 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.178;CADD_Rawscore=0.024819;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs5762853|681|1||||3||||||||Ensembl||T|T||||chr22:g.28849243T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000687270|lncRNA||||||||||rs5762853|4353|1||||||||||||Ensembl||T|T||||chr22:g.28849243T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||3/3|ENST00000810418.1:n.347+772T>G|||||||rs5762853||1||||||||||||Ensembl||T|T||||chr22:g.28849243T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||2/2|ENST00000810419.1:n.266-1004T>G|||||||rs5762853||1||||||||||||Ensembl||T|T||||chr22:g.28849243T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||5/5|ENST00000810420.1:n.611+772T>G|||||||rs5762853||1||||||||||||Ensembl||T|T||||chr22:g.28849243T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||2/2|ENST00000810421.1:n.131+772T>G|||||||rs5762853||1||||||||||||Ensembl||T|T||||chr22:g.28849243T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||4/4|ENST00000810422.1:n.534+772T>G|||||||rs5762853||1||||||||||||Ensembl||T|T||||chr22:g.28849243T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs5762853|671|1||||||||||||Ensembl||T|T||||chr22:g.28849243T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs5762853|687|1||||||||||||Ensembl||T|T||||chr22:g.28849243T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810425|lncRNA||||||||||rs5762853|4356|1||||||||||||Ensembl||T|T||||chr22:g.28849243T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs5762853|690|1||||||||||||Ensembl||T|T||||chr22:g.28849243T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs5762853|690|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28849243T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000458080,ENST00000687270,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810425,ENST00000810426,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46875;gnomADv4_1_AC_joint_XX=23673;gnomADv4_1_AC_joint_XY=23202;gnomADv4_1_AF_grpmax_joint=0.674337;gnomADv4_1_AF_joint=0.308917;gnomADv4_1_AF_joint_XX=0.30508;gnomADv4_1_AF_joint_XY=0.312932;gnomADv4_1_AN_grpmax_joint=5128;gnomADv4_1_AN_joint=151740;gnomADv4_1_AN_joint_XX=77596;gnomADv4_1_AN_joint_XY=74144;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8117;gnomADv4_1_nhomalt_joint_XX=4051;gnomADv4_1_nhomalt_joint_XY=4066;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28850290 chr22_28850290_T_C T C 60 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.46;CADD_Rawscore=-0.213986;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs5762854|1728|1||||3||||||||Ensembl||T|T||||chr22:g.28850290T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA|4/4||ENST00000810418.1:n.391T>C||391|||||rs5762854||1||||||||||||Ensembl||T|T||||chr22:g.28850290T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA|3/3||ENST00000810419.1:n.309T>C||309|||||rs5762854||1||||||||||||Ensembl||T|T||||chr22:g.28850290T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA|6/6||ENST00000810420.1:n.655T>C||655|||||rs5762854||1||||||||||||Ensembl||T|T||||chr22:g.28850290T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA|3/3||ENST00000810421.1:n.175T>C||175|||||rs5762854||1||||||||||||Ensembl||T|T||||chr22:g.28850290T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA|5/5||ENST00000810422.1:n.578T>C||578|||||rs5762854||1||||||||||||Ensembl||T|T||||chr22:g.28850290T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs5762854|1718|1||||||||||||Ensembl||T|T||||chr22:g.28850290T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs5762854|1734|1||||||||||||Ensembl||T|T||||chr22:g.28850290T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs5762854|1737|1||||||||||||Ensembl||T|T||||chr22:g.28850290T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs5762854|1737|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28850290T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000458080,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810426,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60684;gnomADv4_1_AC_joint_XX=30777;gnomADv4_1_AC_joint_XY=29907;gnomADv4_1_AF_grpmax_joint=0.679502;gnomADv4_1_AF_joint=0.399794;gnomADv4_1_AF_joint_XX=0.396662;gnomADv4_1_AF_joint_XY=0.40307;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=151788;gnomADv4_1_AN_joint_XX=77590;gnomADv4_1_AN_joint_XY=74198;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13409;gnomADv4_1_nhomalt_joint_XX=6746;gnomADv4_1_nhomalt_joint_XY=6663;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28850617 chr22_28850617_A_T A T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=5.019;CADD_Rawscore=0.457597;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs5762855|2055|1||||3||||||||Ensembl||A|A||||chr22:g.28850617A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs5762855|24|1||||||||||||Ensembl||A|A||||chr22:g.28850617A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs5762855|24|1||||||||||||Ensembl||A|A||||chr22:g.28850617A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs5762855|30|1||||||||||||Ensembl||A|A||||chr22:g.28850617A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs5762855|27|1||||||||||||Ensembl||A|A||||chr22:g.28850617A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs5762855|27|1||||||||||||Ensembl||A|A||||chr22:g.28850617A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs5762855|2045|1||||||||||||Ensembl||A|A||||chr22:g.28850617A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs5762855|2061|1||||||||||||Ensembl||A|A||||chr22:g.28850617A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs5762855|2064|1||||||||||||Ensembl||A|A||||chr22:g.28850617A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs5762855|2064|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28850617A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000458080,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810426,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21174;gnomADv4_1_AC_joint_XX=10407;gnomADv4_1_AC_joint_XY=10767;gnomADv4_1_AF_grpmax_joint=0.384743;gnomADv4_1_AF_joint=0.139101;gnomADv4_1_AF_joint_XX=0.133756;gnomADv4_1_AF_joint_XY=0.144691;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152220;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1930;gnomADv4_1_nhomalt_joint_XX=907;gnomADv4_1_nhomalt_joint_XY=1023;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28851109 chr22_28851109_A_G A G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=12.02;CADD_Rawscore=1.17645;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs5762857|2547|1||||3||||||||Ensembl||A|A||||chr22:g.28851109A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs5762857|516|1||||||||||||Ensembl||A|A||||chr22:g.28851109A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs5762857|516|1||||||||||||Ensembl||A|A||||chr22:g.28851109A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs5762857|522|1||||||||||||Ensembl||A|A||||chr22:g.28851109A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs5762857|519|1||||||||||||Ensembl||A|A||||chr22:g.28851109A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs5762857|519|1||||||||||||Ensembl||A|A||||chr22:g.28851109A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs5762857|2537|1||||||||||||Ensembl||A|A||||chr22:g.28851109A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs5762857|2553|1||||||||||||Ensembl||A|A||||chr22:g.28851109A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs5762857|2556|1||||||||||||Ensembl||A|A||||chr22:g.28851109A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs5762857|2556|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28851109A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000458080,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810426,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15616;gnomADv4_1_AC_joint_XX=7886;gnomADv4_1_AC_joint_XY=7730;gnomADv4_1_AF_grpmax_joint=0.278192;gnomADv4_1_AF_joint=0.102578;gnomADv4_1_AF_joint_XX=0.101323;gnomADv4_1_AF_joint_XY=0.103889;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152236;gnomADv4_1_AN_joint_XX=77830;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1088;gnomADv4_1_nhomalt_joint_XX=526;gnomADv4_1_nhomalt_joint_XY=562;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28851606 chr22_28851606_A_ATTT A ATTT 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=34;CADDIndel_PHREDscore=0.192;CADDIndel_Rawscore=-0.437342;CSQ=TTT|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs56907306|3044|1||||3||||||||Ensembl|||||||chr22:g.28851621_28851623dup|||||||||||||,TTT|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs56907306|1013|1||||||||||||Ensembl|||||||chr22:g.28851621_28851623dup|||||||||||||,TTT|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs56907306|1013|1||||||||||||Ensembl|||||||chr22:g.28851621_28851623dup|||||||||||||,TTT|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs56907306|1019|1||||||||||||Ensembl|||||||chr22:g.28851621_28851623dup|||||||||||||,TTT|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs56907306|1016|1||||||||||||Ensembl|||||||chr22:g.28851621_28851623dup|||||||||||||,TTT|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs56907306|1016|1||||||||||||Ensembl|||||||chr22:g.28851621_28851623dup|||||||||||||,TTT|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs56907306|3034|1||||||||||||Ensembl|||||||chr22:g.28851621_28851623dup|||||||||||||,TTT|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs56907306|3050|1||||||||||||Ensembl|||||||chr22:g.28851621_28851623dup|||||||||||||,TTT|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs56907306|3053|1||||||||||||Ensembl|||||||chr22:g.28851621_28851623dup|||||||||||||,TTT|downstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs56907306|3053|1||EntrezGene||||||||||RefSeq|||||||chr22:g.28851621_28851623dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT;VEP_Feature=ENST00000458080,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810426,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19495;gnomADv4_1_AC_joint_XX=10083;gnomADv4_1_AC_joint_XY=9412;gnomADv4_1_AF_grpmax_joint=0.355956;gnomADv4_1_AF_joint=0.14361;gnomADv4_1_AF_joint_XX=0.142488;gnomADv4_1_AF_joint_XY=0.144831;gnomADv4_1_AN_grpmax_joint=4214;gnomADv4_1_AN_joint=135750;gnomADv4_1_AN_joint_XX=70764;gnomADv4_1_AN_joint_XY=64986;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1708;gnomADv4_1_nhomalt_joint_XX=872;gnomADv4_1_nhomalt_joint_XY=836;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28853014 chr22_28853014_A_G A G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.047;CADD_Rawscore=-0.005875;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs5762858|4452|1||||3||||||||Ensembl||A|A||||chr22:g.28853014A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs5762858|2421|1||||||||||||Ensembl||A|A||||chr22:g.28853014A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs5762858|2421|1||||||||||||Ensembl||A|A||||chr22:g.28853014A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs5762858|2427|1||||||||||||Ensembl||A|A||||chr22:g.28853014A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs5762858|2424|1||||||||||||Ensembl||A|A||||chr22:g.28853014A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs5762858|2424|1||||||||||||Ensembl||A|A||||chr22:g.28853014A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs5762858|4442|1||||||||||||Ensembl||A|A||||chr22:g.28853014A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs5762858|4458|1||||||||||||Ensembl||A|A||||chr22:g.28853014A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs5762858|4461|1||||||||||||Ensembl||A|A||||chr22:g.28853014A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs5762858|4461|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28853014A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000458080,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810426,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31904;gnomADv4_1_AC_joint_XX=15992;gnomADv4_1_AC_joint_XY=15912;gnomADv4_1_AF_grpmax_joint=0.424666;gnomADv4_1_AF_joint=0.21039;gnomADv4_1_AF_joint_XX=0.206157;gnomADv4_1_AF_joint_XY=0.214824;gnomADv4_1_AN_grpmax_joint=4792;gnomADv4_1_AN_joint=151642;gnomADv4_1_AN_joint_XX=77572;gnomADv4_1_AN_joint_XY=74070;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3650;gnomADv4_1_nhomalt_joint_XX=1758;gnomADv4_1_nhomalt_joint_XY=1892;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28853077 chr22_28853077_T_C T C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.93;CADD_Rawscore=-0.036561;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs5762859|4515|1||||3||||||||Ensembl||T|T||||chr22:g.28853077T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs5762859|2484|1||||||||||||Ensembl||T|T||||chr22:g.28853077T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs5762859|2484|1||||||||||||Ensembl||T|T||||chr22:g.28853077T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs5762859|2490|1||||||||||||Ensembl||T|T||||chr22:g.28853077T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs5762859|2487|1||||||||||||Ensembl||T|T||||chr22:g.28853077T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs5762859|2487|1||||||||||||Ensembl||T|T||||chr22:g.28853077T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs5762859|4505|1||||||||||||Ensembl||T|T||||chr22:g.28853077T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs5762859|4521|1||||||||||||Ensembl||T|T||||chr22:g.28853077T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs5762859|4524|1||||||||||||Ensembl||T|T||||chr22:g.28853077T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs5762859|4524|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.28853077T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000458080,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810426,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53606;gnomADv4_1_AC_joint_XX=27167;gnomADv4_1_AC_joint_XY=26439;gnomADv4_1_AF_grpmax_joint=0.679733;gnomADv4_1_AF_joint=0.353742;gnomADv4_1_AF_joint_XX=0.350506;gnomADv4_1_AF_joint_XY=0.357129;gnomADv4_1_AN_grpmax_joint=5102;gnomADv4_1_AN_joint=151540;gnomADv4_1_AN_joint_XX=77508;gnomADv4_1_AN_joint_XY=74032;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11149;gnomADv4_1_nhomalt_joint_XX=5604;gnomADv4_1_nhomalt_joint_XY=5545;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28853153 chr22_28853153_AAACAACAACAAC_A AAACAACAACAAC A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=1.654;CADDIndel_Rawscore=0.113734;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs148485744|4592|1||||3||||||||Ensembl||AACAACAACAAC|AACAACAACAAC||||chr22:g.28853177_28853188del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs148485744|2561|1||||||||||||Ensembl||AACAACAACAAC|AACAACAACAAC||||chr22:g.28853177_28853188del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs148485744|2561|1||||||||||||Ensembl||AACAACAACAAC|AACAACAACAAC||||chr22:g.28853177_28853188del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs148485744|2567|1||||||||||||Ensembl||AACAACAACAAC|AACAACAACAAC||||chr22:g.28853177_28853188del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs148485744|2564|1||||||||||||Ensembl||AACAACAACAAC|AACAACAACAAC||||chr22:g.28853177_28853188del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs148485744|2564|1||||||||||||Ensembl||AACAACAACAAC|AACAACAACAAC||||chr22:g.28853177_28853188del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs148485744|4582|1||||||||||||Ensembl||AACAACAACAAC|AACAACAACAAC||||chr22:g.28853177_28853188del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs148485744|4598|1||||||||||||Ensembl||AACAACAACAAC|AACAACAACAAC||||chr22:g.28853177_28853188del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs148485744|4601|1||||||||||||Ensembl||AACAACAACAAC|AACAACAACAAC||||chr22:g.28853177_28853188del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs148485744|4601|1||EntrezGene||||||||||RefSeq||AACAACAACAAC|AACAACAACAAC||||chr22:g.28853177_28853188del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000458080,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810426,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50642;gnomADv4_1_AC_joint_XX=25644;gnomADv4_1_AC_joint_XY=24998;gnomADv4_1_AF_grpmax_joint=0.672233;gnomADv4_1_AF_joint=0.336054;gnomADv4_1_AF_joint_XX=0.332521;gnomADv4_1_AF_joint_XY=0.339758;gnomADv4_1_AN_grpmax_joint=4970;gnomADv4_1_AN_joint=150696;gnomADv4_1_AN_joint_XX=77120;gnomADv4_1_AN_joint_XY=73576;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9781;gnomADv4_1_nhomalt_joint_XX=4914;gnomADv4_1_nhomalt_joint_XY=4867;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28853167 chr22_28853167_A_G A G 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=6.042;CADD_Rawscore=0.557464;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000458080|lncRNA||||||||||rs62235748|4605|1||||3||||||||Ensembl||A|A||||chr22:g.28853167A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs62235748|2574|1||||||||||||Ensembl||A|A||||chr22:g.28853167A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs62235748|2574|1||||||||||||Ensembl||A|A||||chr22:g.28853167A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs62235748|2580|1||||||||||||Ensembl||A|A||||chr22:g.28853167A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs62235748|2577|1||||||||||||Ensembl||A|A||||chr22:g.28853167A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs62235748|2577|1||||||||||||Ensembl||A|A||||chr22:g.28853167A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810423|lncRNA||||||||||rs62235748|4595|1||||||||||||Ensembl||A|A||||chr22:g.28853167A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810424|lncRNA||||||||||rs62235748|4611|1||||||||||||Ensembl||A|A||||chr22:g.28853167A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810426|lncRNA||||||||||rs62235748|4614|1||||||||||||Ensembl||A|A||||chr22:g.28853167A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC107985549|107985549|Transcript|XR_002958745.2|lncRNA||||||||||rs62235748|4614|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.28853167A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000458080,ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422,ENST00000810423,ENST00000810424,ENST00000810426,XR_002958745.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,107985549;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,LOC107985549;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14979;gnomADv4_1_AC_joint_XX=7413;gnomADv4_1_AC_joint_XY=7566;gnomADv4_1_AF_grpmax_joint=0.185054;gnomADv4_1_AF_joint=0.0987266;gnomADv4_1_AF_joint_XX=0.0955308;gnomADv4_1_AF_joint_XY=0.102072;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=151722;gnomADv4_1_AN_joint_XX=77598;gnomADv4_1_AN_joint_XY=74124;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1011;gnomADv4_1_nhomalt_joint_XX=472;gnomADv4_1_nhomalt_joint_XY=539;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28854517 chr22_28854517_T_G T G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.875;CADD_Rawscore=-0.052247;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs5762861|3924|1||||||||||||Ensembl||T|T||||chr22:g.28854517T>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs5762861|3924|1||||||||||||Ensembl||T|T||||chr22:g.28854517T>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs5762861|3930|1||||||||||||Ensembl||T|T||||chr22:g.28854517T>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs5762861|3927|1||||||||||||Ensembl||T|T||||chr22:g.28854517T>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs5762861|3927|1||||||||||||Ensembl||T|T||||chr22:g.28854517T>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=43895;gnomADv4_1_AC_joint_XX=22492;gnomADv4_1_AC_joint_XY=21403;gnomADv4_1_AF_grpmax_joint=0.574825;gnomADv4_1_AF_joint=0.289175;gnomADv4_1_AF_joint_XX=0.289748;gnomADv4_1_AF_joint_XY=0.288575;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=151794;gnomADv4_1_AN_joint_XX=77626;gnomADv4_1_AN_joint_XY=74168;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7372;gnomADv4_1_nhomalt_joint_XX=3769;gnomADv4_1_nhomalt_joint_XY=3603;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28854726 chr22_28854726_CT_C CT C 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.693;CADDIndel_Rawscore=-0.11153;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs58686255|4134|1||||||||||||Ensembl||T|T||||chr22:g.28854738del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs58686255|4134|1||||||||||||Ensembl||T|T||||chr22:g.28854738del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs58686255|4140|1||||||||||||Ensembl||T|T||||chr22:g.28854738del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs58686255|4137|1||||||||||||Ensembl||T|T||||chr22:g.28854738del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs58686255|4137|1||||||||||||Ensembl||T|T||||chr22:g.28854738del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=50506;gnomADv4_1_AC_joint_XX=25809;gnomADv4_1_AC_joint_XY=24697;gnomADv4_1_AF_grpmax_joint=0.671182;gnomADv4_1_AF_joint=0.350361;gnomADv4_1_AF_joint_XX=0.34798;gnomADv4_1_AF_joint_XY=0.352885;gnomADv4_1_AN_grpmax_joint=4872;gnomADv4_1_AN_joint=144154;gnomADv4_1_AN_joint_XX=74168;gnomADv4_1_AN_joint_XY=69986;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10044;gnomADv4_1_nhomalt_joint_XX=5109;gnomADv4_1_nhomalt_joint_XY=4935;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28854965 chr22_28854965_G_A G A 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=5.588;CADD_Rawscore=0.512191;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810418|lncRNA||||||||||rs1444926409|4372|1||||||||||||Ensembl||G|G||||chr22:g.28854965G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810419|lncRNA||||||||||rs1444926409|4372|1||||||||||||Ensembl||G|G||||chr22:g.28854965G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810420|lncRNA||||||||||rs1444926409|4378|1||||||||||||Ensembl||G|G||||chr22:g.28854965G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810421|lncRNA||||||||||rs1444926409|4375|1||||||||||||Ensembl||G|G||||chr22:g.28854965G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226471|Transcript|ENST00000810422|lncRNA||||||||||rs1444926409|4375|1||||||||||||Ensembl||G|G||||chr22:g.28854965G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000810418,ENST00000810419,ENST00000810420,ENST00000810421,ENST00000810422;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471,ENSG00000226471;VEP_SYMBOL=.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=15;gnomADv4_1_AC_joint_XX=7;gnomADv4_1_AC_joint_XY=8;gnomADv4_1_AF_grpmax_joint=0.0003861;gnomADv4_1_AF_joint=9.87297e-05;gnomADv4_1_AF_joint_XX=9.00855e-05;gnomADv4_1_AF_joint_XY=0.000107779;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=151930;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28856500 chr22_28856500_A_ATTT A ATTT 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=1.539;CADDIndel_Rawscore=0.094777;CSQ=TTT|intergenic_variant|MODIFIER|||||||||||||||rs35842885|||||||||||||||||||||chr22:g.28856511_28856513dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=42041;gnomADv4_1_AC_joint_XX=21606;gnomADv4_1_AC_joint_XY=20435;gnomADv4_1_AF_grpmax_joint=0.57013;gnomADv4_1_AF_joint=0.284237;gnomADv4_1_AF_joint_XX=0.284702;gnomADv4_1_AF_joint_XY=0.283749;gnomADv4_1_AN_grpmax_joint=5062;gnomADv4_1_AN_joint=147908;gnomADv4_1_AN_joint_XX=75890;gnomADv4_1_AN_joint_XY=72018;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6793;gnomADv4_1_nhomalt_joint_XX=3491;gnomADv4_1_nhomalt_joint_XY=3302;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28856744 chr22_28856744_G_A G A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=4.968;CADD_Rawscore=0.45288;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5762862|||||||||||||||||||||chr22:g.28856744G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43183;gnomADv4_1_AC_joint_XX=22149;gnomADv4_1_AC_joint_XY=21034;gnomADv4_1_AF_grpmax_joint=0.577393;gnomADv4_1_AF_joint=0.285375;gnomADv4_1_AF_joint_XX=0.28603;gnomADv4_1_AF_joint_XY=0.28469;gnomADv4_1_AN_grpmax_joint=5078;gnomADv4_1_AN_joint=151320;gnomADv4_1_AN_joint_XX=77436;gnomADv4_1_AN_joint_XY=73884;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7091;gnomADv4_1_nhomalt_joint_XX=3632;gnomADv4_1_nhomalt_joint_XY=3459;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28856974 chr22_28856974_CT_C CT C 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADDIndel_PHREDscore=0.364;CADDIndel_Rawscore=-0.272612;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs5844825|||||||||||||||||||||chr22:g.28856991del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38979;gnomADv4_1_AC_joint_XX=20141;gnomADv4_1_AC_joint_XY=18838;gnomADv4_1_AF_grpmax_joint=0.561472;gnomADv4_1_AF_joint=0.294017;gnomADv4_1_AF_joint_XX=0.292637;gnomADv4_1_AF_joint_XY=0.295507;gnomADv4_1_AN_grpmax_joint=4376;gnomADv4_1_AN_joint=132574;gnomADv4_1_AN_joint_XX=68826;gnomADv4_1_AN_joint_XY=63748;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5989;gnomADv4_1_nhomalt_joint_XX=3088;gnomADv4_1_nhomalt_joint_XY=2901;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28857347 chr22_28857347_A_C A C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.286;CADD_Rawscore=0.301297;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762863|||||||||||||||||||||chr22:g.28857347A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=53571;gnomADv4_1_AC_joint_XX=27146;gnomADv4_1_AC_joint_XY=26425;gnomADv4_1_AF_grpmax_joint=0.677675;gnomADv4_1_AF_joint=0.352441;gnomADv4_1_AF_joint_XX=0.349306;gnomADv4_1_AF_joint_XY=0.35572;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152000;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11143;gnomADv4_1_nhomalt_joint_XX=5598;gnomADv4_1_nhomalt_joint_XY=5545;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28857376 chr22_28857376_T_C T C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.317;CADD_Rawscore=-0.308028;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762864|||||||||||||||||||||chr22:g.28857376T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=53612;gnomADv4_1_AC_joint_XX=27155;gnomADv4_1_AC_joint_XY=26457;gnomADv4_1_AF_grpmax_joint=0.678074;gnomADv4_1_AF_joint=0.352595;gnomADv4_1_AF_joint_XX=0.349422;gnomADv4_1_AF_joint_XY=0.355911;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11161;gnomADv4_1_nhomalt_joint_XX=5599;gnomADv4_1_nhomalt_joint_XY=5562;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28858757 chr22_28858757_T_C T C 13 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=13;CADD_PHREDscore=0.171;CADD_Rawscore=-0.467995;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5762865|||||||||||||||||||||chr22:g.28858757T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=57328;gnomADv4_1_AC_joint_XX=30027;gnomADv4_1_AC_joint_XY=27301;gnomADv4_1_AF_grpmax_joint=0.675039;gnomADv4_1_AF_joint=0.415011;gnomADv4_1_AF_joint_XX=0.417366;gnomADv4_1_AF_joint_XY=0.412452;gnomADv4_1_AN_grpmax_joint=36072;gnomADv4_1_AN_joint=138136;gnomADv4_1_AN_joint_XX=71944;gnomADv4_1_AN_joint_XY=66192;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=14227;gnomADv4_1_nhomalt_joint_XX=7403;gnomADv4_1_nhomalt_joint_XY=6824;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28858759 chr22_28858759_AT_A AT A 17 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=17;CADDIndel_PHREDscore=0.562;CADDIndel_Rawscore=-0.163911;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs869246968|||||||||||||||||||||chr22:g.28858784del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=2261;gnomADv4_1_AC_joint_XX=1195;gnomADv4_1_AC_joint_XY=1066;gnomADv4_1_AF_grpmax_joint=0.094012;gnomADv4_1_AF_joint=0.0309311;gnomADv4_1_AF_joint_XX=0.0296452;gnomADv4_1_AF_joint_XY=0.0325119;gnomADv4_1_AN_grpmax_joint=1670;gnomADv4_1_AN_joint=73098;gnomADv4_1_AN_joint_XX=40310;gnomADv4_1_AN_joint_XY=32788;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=23;gnomADv4_1_nhomalt_joint_XX=10;gnomADv4_1_nhomalt_joint_XY=13;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28859615 chr22_28859615_ATTT_A ATTT A 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=48;CADDIndel_PHREDscore=2.69;CADDIndel_Rawscore=0.243766;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs34776101|||||||||||||||||||||chr22:g.28859633_28859635del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=41878;gnomADv4_1_AC_joint_XX=21692;gnomADv4_1_AC_joint_XY=20186;gnomADv4_1_AF_grpmax_joint=0.65807;gnomADv4_1_AF_joint=0.314112;gnomADv4_1_AF_joint_XX=0.311514;gnomADv4_1_AF_joint_XY=0.316951;gnomADv4_1_AN_grpmax_joint=4498;gnomADv4_1_AN_joint=133322;gnomADv4_1_AN_joint_XX=69634;gnomADv4_1_AN_joint_XY=63688;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7072;gnomADv4_1_nhomalt_joint_XX=3608;gnomADv4_1_nhomalt_joint_XY=3464;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28859667 chr22_28859667_A_G A G 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.835;CADD_Rawscore=-0.064207;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5762867|||||||||||||||||||||chr22:g.28859667A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=52251;gnomADv4_1_AC_joint_XX=26532;gnomADv4_1_AC_joint_XY=25719;gnomADv4_1_AF_grpmax_joint=0.677942;gnomADv4_1_AF_joint=0.352124;gnomADv4_1_AF_joint_XX=0.347933;gnomADv4_1_AF_joint_XY=0.356555;gnomADv4_1_AN_grpmax_joint=4996;gnomADv4_1_AN_joint=148388;gnomADv4_1_AN_joint_XX=76256;gnomADv4_1_AN_joint_XY=72132;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10855;gnomADv4_1_nhomalt_joint_XX=5439;gnomADv4_1_nhomalt_joint_XY=5416;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28859896 chr22_28859896_A_G A G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.604;CADD_Rawscore=-0.145789;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs6005927|||||||||||||||||||||chr22:g.28859896A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=53530;gnomADv4_1_AC_joint_XX=27094;gnomADv4_1_AC_joint_XY=26436;gnomADv4_1_AF_grpmax_joint=0.678627;gnomADv4_1_AF_joint=0.352844;gnomADv4_1_AF_joint_XX=0.349393;gnomADv4_1_AF_joint_XY=0.356453;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151710;gnomADv4_1_AN_joint_XX=77546;gnomADv4_1_AN_joint_XY=74164;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11137;gnomADv4_1_nhomalt_joint_XX=5580;gnomADv4_1_nhomalt_joint_XY=5557;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28860027 chr22_28860027_CTT_C CTT C 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADDIndel_PHREDscore=5.526;CADDIndel_Rawscore=0.506148;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs34851770|||||||||||||||||||||chr22:g.28860045_28860046del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=16587;gnomADv4_1_AC_joint_XX=8830;gnomADv4_1_AC_joint_XY=7757;gnomADv4_1_AF_grpmax_joint=0.247989;gnomADv4_1_AF_joint=0.13376;gnomADv4_1_AF_joint_XX=0.13588;gnomADv4_1_AF_joint_XY=0.131426;gnomADv4_1_AN_grpmax_joint=3730;gnomADv4_1_AN_joint=124006;gnomADv4_1_AN_joint_XX=64984;gnomADv4_1_AN_joint_XY=59022;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=703;gnomADv4_1_nhomalt_joint_XX=348;gnomADv4_1_nhomalt_joint_XY=355;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28860105 chr22_28860105_T_A T A 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=9.019;CADD_Rawscore=0.875753;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs34206997|||||||||||||||||||||chr22:g.28860105T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15130;gnomADv4_1_AC_joint_XX=7697;gnomADv4_1_AC_joint_XY=7433;gnomADv4_1_AF_grpmax_joint=0.274221;gnomADv4_1_AF_joint=0.100696;gnomADv4_1_AF_joint_XX=0.0999351;gnomADv4_1_AF_joint_XY=0.101497;gnomADv4_1_AN_grpmax_joint=4686;gnomADv4_1_AN_joint=150254;gnomADv4_1_AN_joint_XX=77020;gnomADv4_1_AN_joint_XY=73234;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1039;gnomADv4_1_nhomalt_joint_XX=498;gnomADv4_1_nhomalt_joint_XY=541;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28860270 chr22_28860270_T_C T C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.903;CADD_Rawscore=-0.044178;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs6005928|||||||||||||||||||||chr22:g.28860270T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=59577;gnomADv4_1_AC_joint_XX=30245;gnomADv4_1_AC_joint_XY=29332;gnomADv4_1_AF_grpmax_joint=0.674059;gnomADv4_1_AF_joint=0.395676;gnomADv4_1_AF_joint_XX=0.392527;gnomADv4_1_AF_joint_XY=0.398977;gnomADv4_1_AN_grpmax_joint=5050;gnomADv4_1_AN_joint=150570;gnomADv4_1_AN_joint_XX=77052;gnomADv4_1_AN_joint_XY=73518;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13042;gnomADv4_1_nhomalt_joint_XX=6560;gnomADv4_1_nhomalt_joint_XY=6482;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28860319 chr22_28860319_T_C T C 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=5.565;CADD_Rawscore=0.50993;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs6005929|||||||||||||||||||||chr22:g.28860319T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=52951;gnomADv4_1_AC_joint_XX=26820;gnomADv4_1_AC_joint_XY=26131;gnomADv4_1_AF_grpmax_joint=0.676817;gnomADv4_1_AF_joint=0.349507;gnomADv4_1_AF_joint_XX=0.346091;gnomADv4_1_AF_joint_XY=0.353083;gnomADv4_1_AN_grpmax_joint=5090;gnomADv4_1_AN_joint=151502;gnomADv4_1_AN_joint_XX=77494;gnomADv4_1_AN_joint_XY=74008;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10913;gnomADv4_1_nhomalt_joint_XX=5470;gnomADv4_1_nhomalt_joint_XY=5443;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28860944 chr22_28860944_C_CT C CT 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=1.408;CADDIndel_Rawscore=0.071507;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs35671515|||||||||||||||||||||chr22:g.28860957dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=18400;gnomADv4_1_AC_joint_XX=9421;gnomADv4_1_AC_joint_XY=8979;gnomADv4_1_AF_grpmax_joint=0.300624;gnomADv4_1_AF_joint=0.128833;gnomADv4_1_AF_joint_XX=0.127975;gnomADv4_1_AF_joint_XY=0.129747;gnomADv4_1_AN_grpmax_joint=4484;gnomADv4_1_AN_joint=142820;gnomADv4_1_AN_joint_XX=73616;gnomADv4_1_AN_joint_XY=69204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1280;gnomADv4_1_nhomalt_joint_XX=629;gnomADv4_1_nhomalt_joint_XY=651;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28861060 chr22_28861060_AC_A AC A 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.811;CADDIndel_Rawscore=-0.071473;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs60676462|||||||||||||||||||||chr22:g.28861061del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=64429;gnomADv4_1_AC_joint_XX=32813;gnomADv4_1_AC_joint_XY=31616;gnomADv4_1_AF_grpmax_joint=0.674678;gnomADv4_1_AF_joint=0.42551;gnomADv4_1_AF_joint_XX=0.42382;gnomADv4_1_AF_joint_XY=0.427278;gnomADv4_1_AN_grpmax_joint=5118;gnomADv4_1_AN_joint=151416;gnomADv4_1_AN_joint_XX=77422;gnomADv4_1_AN_joint_XY=73994;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15732;gnomADv4_1_nhomalt_joint_XX=8003;gnomADv4_1_nhomalt_joint_XY=7729;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28861062 chr22_28861062_A_T A T 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=5.411;CADD_Rawscore=0.494915;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs58004020|||||||||||||||||||||chr22:g.28861062A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=64432;gnomADv4_1_AC_joint_XX=32813;gnomADv4_1_AC_joint_XY=31619;gnomADv4_1_AF_grpmax_joint=0.674609;gnomADv4_1_AF_joint=0.425423;gnomADv4_1_AF_joint_XX=0.423754;gnomADv4_1_AF_joint_XY=0.427168;gnomADv4_1_AN_grpmax_joint=5120;gnomADv4_1_AN_joint=151454;gnomADv4_1_AN_joint_XX=77434;gnomADv4_1_AN_joint_XY=74020;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15731;gnomADv4_1_nhomalt_joint_XX=8003;gnomADv4_1_nhomalt_joint_XY=7728;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28861159 chr22_28861159_A_G A G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.365;CADD_Rawscore=0.208711;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs10222249|||||||||||||||||||||chr22:g.28861159A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43912;gnomADv4_1_AC_joint_XX=22486;gnomADv4_1_AC_joint_XY=21426;gnomADv4_1_AF_grpmax_joint=0.574522;gnomADv4_1_AF_joint=0.289409;gnomADv4_1_AF_joint_XX=0.28985;gnomADv4_1_AF_joint_XY=0.288947;gnomADv4_1_AN_grpmax_joint=5126;gnomADv4_1_AN_joint=151730;gnomADv4_1_AN_joint_XX=77578;gnomADv4_1_AN_joint_XY=74152;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7377;gnomADv4_1_nhomalt_joint_XX=3765;gnomADv4_1_nhomalt_joint_XY=3612;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28861477 chr22_28861477_C_CA C CA 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=44;CADDIndel_PHREDscore=1.011;CADDIndel_Rawscore=-0.015037;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs71316872|||||||||||||||||||||chr22:g.28861494dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=14568;gnomADv4_1_AC_joint_XX=7774;gnomADv4_1_AC_joint_XY=6794;gnomADv4_1_AF_grpmax_joint=0.394737;gnomADv4_1_AF_joint=0.203566;gnomADv4_1_AF_joint_XX=0.20445;gnomADv4_1_AF_joint_XY=0.202564;gnomADv4_1_AN_grpmax_joint=2432;gnomADv4_1_AN_joint=71564;gnomADv4_1_AN_joint_XX=38024;gnomADv4_1_AN_joint_XY=33540;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1161;gnomADv4_1_nhomalt_joint_XX=591;gnomADv4_1_nhomalt_joint_XY=570;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28862152 chr22_28862152_T_A T A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.349;CADD_Rawscore=-0.283549;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs9625612|||||||||||||||||||||chr22:g.28862152T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=24282;gnomADv4_1_AC_joint_XX=12386;gnomADv4_1_AC_joint_XY=11896;gnomADv4_1_AF_grpmax_joint=0.325625;gnomADv4_1_AF_joint=0.160746;gnomADv4_1_AF_joint_XX=0.160353;gnomADv4_1_AF_joint_XY=0.161157;gnomADv4_1_AN_grpmax_joint=4800;gnomADv4_1_AN_joint=151058;gnomADv4_1_AN_joint_XX=77242;gnomADv4_1_AN_joint_XY=73816;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2144;gnomADv4_1_nhomalt_joint_XX=1053;gnomADv4_1_nhomalt_joint_XY=1091;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28862521 chr22_28862521_C_G C G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.162;CADD_Rawscore=0.02125;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs13058460|||||||||||||||||||||chr22:g.28862521C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=29391;gnomADv4_1_AC_joint_XX=14636;gnomADv4_1_AC_joint_XY=14755;gnomADv4_1_AF_grpmax_joint=0.407169;gnomADv4_1_AF_joint=0.193362;gnomADv4_1_AF_joint_XX=0.188356;gnomADv4_1_AF_joint_XY=0.198598;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152000;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3189;gnomADv4_1_nhomalt_joint_XX=1512;gnomADv4_1_nhomalt_joint_XY=1677;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28862563 chr22_28862563_T_G T G 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.008;CADD_Rawscore=0.456634;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs10154819|||||||||||||||||||||chr22:g.28862563T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=40200;gnomADv4_1_AC_joint_XX=20225;gnomADv4_1_AC_joint_XY=19975;gnomADv4_1_AF_grpmax_joint=0.417578;gnomADv4_1_AF_joint=0.267943;gnomADv4_1_AF_joint_XX=0.263875;gnomADv4_1_AF_joint_XY=0.272191;gnomADv4_1_AN_grpmax_joint=4756;gnomADv4_1_AN_joint=150032;gnomADv4_1_AN_joint_XX=76646;gnomADv4_1_AN_joint_XY=73386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5513;gnomADv4_1_nhomalt_joint_XX=2721;gnomADv4_1_nhomalt_joint_XY=2792;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28863114 chr22_28863114_T_A T A 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.026;CADD_Rawscore=-0.011128;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs13053879|||||||||||||||||||||chr22:g.28863114T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15357;gnomADv4_1_AC_joint_XX=7775;gnomADv4_1_AC_joint_XY=7582;gnomADv4_1_AF_grpmax_joint=0.271225;gnomADv4_1_AF_joint=0.101498;gnomADv4_1_AF_joint_XX=0.100424;gnomADv4_1_AF_joint_XY=0.102623;gnomADv4_1_AN_grpmax_joint=4782;gnomADv4_1_AN_joint=151304;gnomADv4_1_AN_joint_XX=77422;gnomADv4_1_AN_joint_XY=73882;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1056;gnomADv4_1_nhomalt_joint_XX=513;gnomADv4_1_nhomalt_joint_XY=543;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28864134 chr22_28864134_CA_C CA C 30 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=30;CADDIndel_PHREDscore=0.255;CADDIndel_Rawscore=-0.363945;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs547121518|||||||||||||||||||||chr22:g.28864156del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=18526;gnomADv4_1_AC_joint_XX=9888;gnomADv4_1_AC_joint_XY=8638;gnomADv4_1_AF_grpmax_joint=0.314516;gnomADv4_1_AF_joint=0.25692;gnomADv4_1_AF_joint_XX=0.258038;gnomADv4_1_AF_joint_XY=0.255653;gnomADv4_1_AN_grpmax_joint=124;gnomADv4_1_AN_joint=72108;gnomADv4_1_AN_joint_XX=38320;gnomADv4_1_AN_joint_XY=33788;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1027;gnomADv4_1_nhomalt_joint_XX=556;gnomADv4_1_nhomalt_joint_XY=471;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28865171 chr22_28865171_C_T C T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.005;CADD_Rawscore=-1.51045;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5762870|||||||||||||||||||||chr22:g.28865171C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=64312;gnomADv4_1_AC_joint_XX=32792;gnomADv4_1_AC_joint_XY=31520;gnomADv4_1_AF_grpmax_joint=0.656379;gnomADv4_1_AF_joint=0.422794;gnomADv4_1_AF_joint_XX=0.421719;gnomADv4_1_AF_joint_XY=0.423918;gnomADv4_1_AN_grpmax_joint=41508;gnomADv4_1_AN_joint=152112;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=15599;gnomADv4_1_nhomalt_joint_XX=7997;gnomADv4_1_nhomalt_joint_XY=7602;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28867116 chr22_28867116_A_G;chr22_28867116_A_AAAG A G 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=31;CADD_PHREDscore=1.241;CADD_Rawscore=0.038467;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs80143671|||||||||||||||||||||chr22:g.28867116A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=1791;gnomADv4_1_AC_joint_XX=916;gnomADv4_1_AC_joint_XY=875;gnomADv4_1_AF_grpmax_joint=0.139144;gnomADv4_1_AF_joint=0.0363773;gnomADv4_1_AF_joint_XX=0.0345608;gnomADv4_1_AF_joint_XY=0.0384954;gnomADv4_1_AN_grpmax_joint=1308;gnomADv4_1_AN_joint=49234;gnomADv4_1_AN_joint_XX=26504;gnomADv4_1_AN_joint_XY=22730;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=86;gnomADv4_1_nhomalt_joint_XX=47;gnomADv4_1_nhomalt_joint_XY=39;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28867116 chr22_28867116_A_G;chr22_28867116_A_AAAG A AAAG 31 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=10;CADDIndel_PHREDscore=1.633;CADDIndel_Rawscore=0.110501;CSQ=AAG|intergenic_variant|MODIFIER|||||||||||||||rs1178637314|||||||||||||||||||||chr22:g.28867118_28867119insGAA|||||||||||||;TYPE=INDEL;VEP_Allele=AAG;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=13;gnomADv4_1_AC_joint_XX=5;gnomADv4_1_AC_joint_XY=8;gnomADv4_1_AF_grpmax_joint=0.0015015;gnomADv4_1_AF_joint=0.00026216;gnomADv4_1_AF_joint_XX=0.000187266;gnomADv4_1_AF_joint_XY=0.000349528;gnomADv4_1_AN_grpmax_joint=1332;gnomADv4_1_AN_joint=49588;gnomADv4_1_AN_joint_XX=26700;gnomADv4_1_AN_joint_XY=22888;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28867123 chr22_28867123_G_A G A 22 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=22;CADD_PHREDscore=0.762;CADD_Rawscore=-0.087599;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs28742877|||||||||||||||||||||chr22:g.28867123G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=14747;gnomADv4_1_AC_joint_XX=7952;gnomADv4_1_AC_joint_XY=6795;gnomADv4_1_AF_grpmax_joint=0.620316;gnomADv4_1_AF_joint=0.407804;gnomADv4_1_AF_joint_XX=0.407711;gnomADv4_1_AF_joint_XY=0.407912;gnomADv4_1_AN_grpmax_joint=1014;gnomADv4_1_AN_joint=36162;gnomADv4_1_AN_joint_XX=19504;gnomADv4_1_AN_joint_XY=16658;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4188;gnomADv4_1_nhomalt_joint_XX=2284;gnomADv4_1_nhomalt_joint_XY=1904;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28867232 chr22_28867232_GGAAGGAAAGAAA_G GGAAGGAAAGAAA G 16 MONOALLELIC AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=16;CADDIndel_PHREDscore=0.476;CADDIndel_Rawscore=-0.205323;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs1343531770|||||||||||||||||||||chr22:g.28867236_28867247del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=143;gnomADv4_1_AC_joint_XX=76;gnomADv4_1_AC_joint_XY=67;gnomADv4_1_AF_grpmax_joint=0.00393701;gnomADv4_1_AF_joint=0.00107614;gnomADv4_1_AF_joint_XX=0.00110991;gnomADv4_1_AF_joint_XY=0.00104024;gnomADv4_1_AN_grpmax_joint=254;gnomADv4_1_AN_joint=132882;gnomADv4_1_AN_joint_XX=68474;gnomADv4_1_AN_joint_XY=64408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28867240 chr22_28867240_A_G A G 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=12;CADD_PHREDscore=0.453;CADD_Rawscore=-0.217817;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs59295229|||||||||||||||||||||chr22:g.28867240A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=4495;gnomADv4_1_AC_joint_XX=2365;gnomADv4_1_AC_joint_XY=2130;gnomADv4_1_AF_grpmax_joint=0.092772;gnomADv4_1_AF_joint=0.0395151;gnomADv4_1_AF_joint_XX=0.0400766;gnomADv4_1_AF_joint_XY=0.0389098;gnomADv4_1_AN_grpmax_joint=2684;gnomADv4_1_AN_joint=113754;gnomADv4_1_AN_joint_XX=59012;gnomADv4_1_AN_joint_XY=54742;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=121;gnomADv4_1_nhomalt_joint_XX=61;gnomADv4_1_nhomalt_joint_XY=60;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28867244 chr22_28867244_A_G A G 10 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=10;CADD_PHREDscore=1.128;CADD_Rawscore=0.013482;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs377310282|||||||||||||||||||||chr22:g.28867244A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=4215;gnomADv4_1_AC_joint_XX=2235;gnomADv4_1_AC_joint_XY=1980;gnomADv4_1_AF_grpmax_joint=0.0837156;gnomADv4_1_AF_joint=0.0309399;gnomADv4_1_AF_joint_XX=0.0318431;gnomADv4_1_AF_joint_XY=0.02998;gnomADv4_1_AN_grpmax_joint=3488;gnomADv4_1_AN_joint=136232;gnomADv4_1_AN_joint_XX=70188;gnomADv4_1_AN_joint_XY=66044;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=132;gnomADv4_1_nhomalt_joint_XX=72;gnomADv4_1_nhomalt_joint_XY=60;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28868344 chr22_28868344_CA_C CA C 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.494;CADDIndel_Rawscore=-0.196219;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs201431987|||||||||||||||||||||chr22:g.28868357del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15927;gnomADv4_1_AC_joint_XX=8399;gnomADv4_1_AC_joint_XY=7528;gnomADv4_1_AF_grpmax_joint=0.315896;gnomADv4_1_AF_joint=0.128392;gnomADv4_1_AF_joint_XX=0.128386;gnomADv4_1_AF_joint_XY=0.128398;gnomADv4_1_AN_grpmax_joint=3938;gnomADv4_1_AN_joint=124050;gnomADv4_1_AN_joint_XX=65420;gnomADv4_1_AN_joint_XY=58630;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1050;gnomADv4_1_nhomalt_joint_XX=555;gnomADv4_1_nhomalt_joint_XY=495;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28868356 chr22_28868356_A_T A T 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.049;CADD_Rawscore=-0.005471;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5752821|||||||||||||||||||||chr22:g.28868356A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=41603;gnomADv4_1_AC_joint_XX=21990;gnomADv4_1_AC_joint_XY=19613;gnomADv4_1_AF_grpmax_joint=0.487919;gnomADv4_1_AF_joint=0.315112;gnomADv4_1_AF_joint_XX=0.317527;gnomADv4_1_AF_joint_XY=0.312448;gnomADv4_1_AN_grpmax_joint=4470;gnomADv4_1_AN_joint=132026;gnomADv4_1_AN_joint_XX=69254;gnomADv4_1_AN_joint_XY=62772;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7489;gnomADv4_1_nhomalt_joint_XX=3972;gnomADv4_1_nhomalt_joint_XY=3517;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28868358 chr22_28868358_T_A T A 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.433;CADD_Rawscore=0.076172;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs185578004|||||||||||||||||||||chr22:g.28868358T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=7887;gnomADv4_1_AC_joint_XX=4089;gnomADv4_1_AC_joint_XY=3798;gnomADv4_1_AF_grpmax_joint=0.0753968;gnomADv4_1_AF_joint=0.0616432;gnomADv4_1_AF_joint_XX=0.0615035;gnomADv4_1_AF_joint_XY=0.0617943;gnomADv4_1_AN_grpmax_joint=252;gnomADv4_1_AN_joint=127946;gnomADv4_1_AN_joint_XX=66484;gnomADv4_1_AN_joint_XY=61462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=237;gnomADv4_1_nhomalt_joint_XX=119;gnomADv4_1_nhomalt_joint_XY=118;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28868965 chr22_28868965_C_T C T 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=3.185;CADD_Rawscore=0.291905;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs2347448|||||||||||||||||||||chr22:g.28868965C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15524;gnomADv4_1_AC_joint_XX=7903;gnomADv4_1_AC_joint_XY=7621;gnomADv4_1_AF_grpmax_joint=0.268165;gnomADv4_1_AF_joint=0.102705;gnomADv4_1_AF_joint_XX=0.102188;gnomADv4_1_AF_joint_XY=0.103246;gnomADv4_1_AN_grpmax_joint=4762;gnomADv4_1_AN_joint=151152;gnomADv4_1_AN_joint_XX=77338;gnomADv4_1_AN_joint_XY=73814;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1040;gnomADv4_1_nhomalt_joint_XX=505;gnomADv4_1_nhomalt_joint_XY=535;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28870037 chr22_28870037_A_G A G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.62;CADD_Rawscore=-0.139204;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5752822|||||||||||||||||||||chr22:g.28870037A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33949;gnomADv4_1_AC_joint_XX=17083;gnomADv4_1_AC_joint_XY=16866;gnomADv4_1_AF_grpmax_joint=0.406744;gnomADv4_1_AF_joint=0.223381;gnomADv4_1_AF_joint_XX=0.219898;gnomADv4_1_AF_joint_XY=0.227023;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=151978;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4057;gnomADv4_1_nhomalt_joint_XX=1993;gnomADv4_1_nhomalt_joint_XY=2064;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28871105 chr22_28871105_G_C G C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.006;CADD_Rawscore=-0.016251;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs133446|||||||||||||||||||||chr22:g.28871105G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=151449;gnomADv4_1_AC_joint_XX=77360;gnomADv4_1_AC_joint_XY=74089;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.995066;gnomADv4_1_AF_joint_XX=0.9946;gnomADv4_1_AF_joint_XY=0.995552;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152200;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75352;gnomADv4_1_nhomalt_joint_XX=38472;gnomADv4_1_nhomalt_joint_XY=36880;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28872839 chr22_28872839_C_T C T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.131;CADD_Rawscore=0.37684;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs2015500|||||||||||||||||||||chr22:g.28872839C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=61809;gnomADv4_1_AC_joint_XX=31502;gnomADv4_1_AC_joint_XY=30307;gnomADv4_1_AF_grpmax_joint=0.61376;gnomADv4_1_AF_joint=0.406954;gnomADv4_1_AF_joint_XX=0.405619;gnomADv4_1_AF_joint_XY=0.408351;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151882;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14110;gnomADv4_1_nhomalt_joint_XX=7232;gnomADv4_1_nhomalt_joint_XY=6878;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28873670 chr22_28873670_C_G C G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.957;CADD_Rawscore=-0.02916;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5762874|||||||||||||||||||||chr22:g.28873670C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=61777;gnomADv4_1_AC_joint_XX=31508;gnomADv4_1_AC_joint_XY=30269;gnomADv4_1_AF_grpmax_joint=0.609653;gnomADv4_1_AF_joint=0.406235;gnomADv4_1_AF_joint_XX=0.40531;gnomADv4_1_AF_joint_XY=0.407203;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14080;gnomADv4_1_nhomalt_joint_XX=7228;gnomADv4_1_nhomalt_joint_XY=6852;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28873704 chr22_28873704_A_G A G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=11.91;CADD_Rawscore=1.16249;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs8141529|||||||||||||||||||||chr22:g.28873704A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=49604;gnomADv4_1_AC_joint_XX=25536;gnomADv4_1_AC_joint_XY=24068;gnomADv4_1_AF_grpmax_joint=0.486862;gnomADv4_1_AF_joint=0.326179;gnomADv4_1_AF_joint_XX=0.328556;gnomADv4_1_AF_joint_XY=0.323695;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8936;gnomADv4_1_nhomalt_joint_XX=4626;gnomADv4_1_nhomalt_joint_XY=4310;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28873820 chr22_28873820_A_G A G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=8.315;CADD_Rawscore=0.803086;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5752826|||||||||||||||||||||chr22:g.28873820A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=61801;gnomADv4_1_AC_joint_XX=31504;gnomADv4_1_AC_joint_XY=30297;gnomADv4_1_AF_grpmax_joint=0.61232;gnomADv4_1_AF_joint=0.406939;gnomADv4_1_AF_joint_XX=0.40577;gnomADv4_1_AF_joint_XY=0.408161;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=151868;gnomADv4_1_AN_joint_XX=77640;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14124;gnomADv4_1_nhomalt_joint_XX=7236;gnomADv4_1_nhomalt_joint_XY=6888;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28874003 chr22_28874003_G_A G A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.5;CADD_Rawscore=0.223652;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs6519766|||||||||||||||||||||chr22:g.28874003G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=61900;gnomADv4_1_AC_joint_XX=31546;gnomADv4_1_AC_joint_XY=30354;gnomADv4_1_AF_grpmax_joint=0.612292;gnomADv4_1_AF_joint=0.407162;gnomADv4_1_AF_joint_XX=0.405924;gnomADv4_1_AF_joint_XY=0.408456;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14150;gnomADv4_1_nhomalt_joint_XX=7245;gnomADv4_1_nhomalt_joint_XY=6905;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28875100 chr22_28875100_G_T G T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=17.58;CADD_Rawscore=2.179;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs73170679|||||||||||||||||||||chr22:g.28875100G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15688;gnomADv4_1_AC_joint_XX=7965;gnomADv4_1_AC_joint_XY=7723;gnomADv4_1_AF_grpmax_joint=0.268991;gnomADv4_1_AF_joint=0.103034;gnomADv4_1_AF_joint_XX=0.102362;gnomADv4_1_AF_joint_XY=0.103737;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152260;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1049;gnomADv4_1_nhomalt_joint_XX=509;gnomADv4_1_nhomalt_joint_XY=540;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28875650 chr22_28875650_C_G C G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.065;CADD_Rawscore=-0.726512;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs8142067|||||||||||||||||||||chr22:g.28875650C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=61919;gnomADv4_1_AC_joint_XX=31587;gnomADv4_1_AC_joint_XY=30332;gnomADv4_1_AF_grpmax_joint=0.612747;gnomADv4_1_AF_joint=0.408582;gnomADv4_1_AF_joint_XX=0.40749;gnomADv4_1_AF_joint_XY=0.409726;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151546;gnomADv4_1_AN_joint_XX=77516;gnomADv4_1_AN_joint_XY=74030;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14168;gnomADv4_1_nhomalt_joint_XX=7267;gnomADv4_1_nhomalt_joint_XY=6901;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28876340 chr22_28876340_T_A T A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.662;CADD_Rawscore=0.240912;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs9625619|||||||||||||||||||||chr22:g.28876340T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=61868;gnomADv4_1_AC_joint_XX=31552;gnomADv4_1_AC_joint_XY=30316;gnomADv4_1_AF_grpmax_joint=0.613065;gnomADv4_1_AF_joint=0.406903;gnomADv4_1_AF_joint_XX=0.405981;gnomADv4_1_AF_joint_XY=0.407868;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14138;gnomADv4_1_nhomalt_joint_XX=7249;gnomADv4_1_nhomalt_joint_XY=6889;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28876902 chr22_28876902_T_TA;chr22_28876902_TA_T T TA 31 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=31;CADDIndel_PHREDscore=0.822;CADDIndel_Rawscore=-0.068112;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs1171142158|||||||||||||||||||||chr22:g.28876925dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=17879;gnomADv4_1_AC_joint_XX=10000;gnomADv4_1_AC_joint_XY=7879;gnomADv4_1_AF_grpmax_joint=0.344131;gnomADv4_1_AF_joint=0.214752;gnomADv4_1_AF_joint_XX=0.220041;gnomADv4_1_AF_joint_XY=0.208395;gnomADv4_1_AN_grpmax_joint=2130;gnomADv4_1_AN_joint=83254;gnomADv4_1_AN_joint_XX=45446;gnomADv4_1_AN_joint_XY=37808;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1967;gnomADv4_1_nhomalt_joint_XX=1096;gnomADv4_1_nhomalt_joint_XY=871;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28876902 chr22_28876902_T_TA;chr22_28876902_TA_T TA T 31 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=19;CADDIndel_PHREDscore=0.666;CADDIndel_Rawscore=-0.121295;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs1171142158|||||||||||||||||||||chr22:g.28876925del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=747;gnomADv4_1_AC_joint_XX=357;gnomADv4_1_AC_joint_XY=390;gnomADv4_1_AF_grpmax_joint=0.0237719;gnomADv4_1_AF_joint=0.00895125;gnomADv4_1_AF_joint_XX=0.00783376;gnomADv4_1_AF_joint_XY=0.0102957;gnomADv4_1_AN_grpmax_joint=21538;gnomADv4_1_AN_joint=83452;gnomADv4_1_AN_joint_XX=45572;gnomADv4_1_AN_joint_XY=37880;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3;gnomADv4_1_nhomalt_joint_XX=2;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28877978 chr22_28877978_G_A G A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=10.74;CADD_Rawscore=1.03609;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783694|lncRNA||||||||||rs13058031|4622|-1||||||||||||Ensembl||G|G||||chr22:g.28877978G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783695|lncRNA||||||||||rs13058031|4620|-1||||||||||||Ensembl||G|G||||chr22:g.28877978G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000783694,ENST00000783695;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000302057,ENSG00000302057;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=15285;gnomADv4_1_AC_joint_XX=7747;gnomADv4_1_AC_joint_XY=7538;gnomADv4_1_AF_grpmax_joint=0.264853;gnomADv4_1_AF_joint=0.10048;gnomADv4_1_AF_joint_XX=0.0996296;gnomADv4_1_AF_joint_XY=0.101369;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1029;gnomADv4_1_nhomalt_joint_XX=502;gnomADv4_1_nhomalt_joint_XY=527;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28878241 chr22_28878241_CTTTTTCTTTTTTT_C CTTTTTCTTTTTTT C 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.918;CADDIndel_Rawscore=-0.039928;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783694|lncRNA||||||||||rs138986092|4346|-1||||||||||||Ensembl||TTTTTCTTTTTTT|TTTTTCTTTTTTT||||chr22:g.28878247_28878259del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783695|lncRNA||||||||||rs138986092|4344|-1||||||||||||Ensembl||TTTTTCTTTTTTT|TTTTTCTTTTTTT||||chr22:g.28878247_28878259del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000783694,ENST00000783695;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000302057,ENSG00000302057;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=15235;gnomADv4_1_AC_joint_XX=7739;gnomADv4_1_AC_joint_XY=7496;gnomADv4_1_AF_grpmax_joint=0.286712;gnomADv4_1_AF_joint=0.116174;gnomADv4_1_AF_joint_XX=0.115215;gnomADv4_1_AF_joint_XY=0.11718;gnomADv4_1_AN_grpmax_joint=4440;gnomADv4_1_AN_joint=131140;gnomADv4_1_AN_joint_XX=67170;gnomADv4_1_AN_joint_XY=63970;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1042;gnomADv4_1_nhomalt_joint_XX=506;gnomADv4_1_nhomalt_joint_XY=536;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28879304 chr22_28879304_CT_C CT C 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.502;CADDIndel_Rawscore=-0.192331;CSQ=-|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||||||||||rs71815982|4267|1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28879319del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783694|lncRNA||||||||||rs71815982|3295|-1||||||||||||Ensembl||T|T||||chr22:g.28879319del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783695|lncRNA||||||||||rs71815982|3293|-1||||||||||||Ensembl||T|T||||chr22:g.28879319del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||||||||||rs71815982|4267|1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28879319del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000544604,ENST00000783694,ENST00000783695,NM_001206998.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000302057,ENSG00000302057,84133;VEP_SYMBOL=ZNRF3,.,.,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=41355;gnomADv4_1_AC_joint_XX=21744;gnomADv4_1_AC_joint_XY=19611;gnomADv4_1_AF_grpmax_joint=0.464307;gnomADv4_1_AF_joint=0.315057;gnomADv4_1_AF_joint_XX=0.318118;gnomADv4_1_AF_joint_XY=0.311731;gnomADv4_1_AN_grpmax_joint=34292;gnomADv4_1_AN_joint=131262;gnomADv4_1_AN_joint_XX=68352;gnomADv4_1_AN_joint_XY=62910;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6276;gnomADv4_1_nhomalt_joint_XX=3325;gnomADv4_1_nhomalt_joint_XY=2951;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28880175 chr22_28880175_C_CTG C CTG 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=5.579;CADDIndel_Rawscore=0.511294;CSQ=TG|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||||||||||rs35893425|3396|1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1||chr22:g.28880213_28880214dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783694|lncRNA||||||||||rs35893425|2424|-1||||||||||||Ensembl|||||||chr22:g.28880213_28880214dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783695|lncRNA||||||||||rs35893425|2422|-1||||||||||||Ensembl|||||||chr22:g.28880213_28880214dup|||||||||||||,TG|upstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||||||||||rs35893425|3396|1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq|||||||chr22:g.28880213_28880214dup|||||||||||||,TG|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8SX22|open_chromatin_region||||||||||rs35893425|||||||||||||||||||||chr22:g.28880213_28880214dup|||||||||||||;TYPE=INDEL;VEP_Allele=TG,TG,TG,TG,TG;VEP_Feature=ENST00000544604,ENST00000783694,ENST00000783695,NM_001206998.2,ENSR22_8SX22;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,ENSG00000302057,ENSG00000302057,84133,.;VEP_SYMBOL=ZNRF3,.,.,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=8490;gnomADv4_1_AC_joint_XX=4366;gnomADv4_1_AC_joint_XY=4124;gnomADv4_1_AF_grpmax_joint=0.143411;gnomADv4_1_AF_joint=0.0629178;gnomADv4_1_AF_joint_XX=0.0621902;gnomADv4_1_AF_joint_XY=0.0637069;gnomADv4_1_AN_grpmax_joint=258;gnomADv4_1_AN_joint=134938;gnomADv4_1_AN_joint_XX=70204;gnomADv4_1_AN_joint_XY=64734;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=267;gnomADv4_1_nhomalt_joint_XX=140;gnomADv4_1_nhomalt_joint_XY=127;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28880759 chr22_28880759_G_A G A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=5.43;CADD_Rawscore=0.496769;CSQ=A|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||||||||||rs5997412|2813|1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28880759G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783694|lncRNA||||||||||rs5997412|1841|-1||||||||||||Ensembl||G|G||||chr22:g.28880759G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783695|lncRNA||||||||||rs5997412|1839|-1||||||||||||Ensembl||G|G||||chr22:g.28880759G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||||||||||rs5997412|2813|1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28880759G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000544604,ENST00000783694,ENST00000783695,NM_001206998.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000302057,ENSG00000302057,84133;VEP_SYMBOL=ZNRF3,.,.,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=61936;gnomADv4_1_AC_joint_XX=31528;gnomADv4_1_AC_joint_XY=30408;gnomADv4_1_AF_grpmax_joint=0.613328;gnomADv4_1_AF_joint=0.407404;gnomADv4_1_AF_joint_XX=0.405588;gnomADv4_1_AF_joint_XY=0.409304;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152026;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14153;gnomADv4_1_nhomalt_joint_XX=7219;gnomADv4_1_nhomalt_joint_XY=6934;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28880986 chr22_28880986_T_C T C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=5.222;CADD_Rawscore=0.476842;CSQ=C|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||||||||||rs73170681|2586|1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28880986T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783694|lncRNA||||||||||rs73170681|1614|-1||||||||||||Ensembl||T|T||||chr22:g.28880986T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783695|lncRNA||||||||||rs73170681|1612|-1||||||||||||Ensembl||T|T||||chr22:g.28880986T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||||||||||rs73170681|2586|1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28880986T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000544604,ENST00000783694,ENST00000783695,NM_001206998.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000302057,ENSG00000302057,84133;VEP_SYMBOL=ZNRF3,.,.,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=5884;gnomADv4_1_AC_joint_XX=3192;gnomADv4_1_AC_joint_XY=2692;gnomADv4_1_AF_grpmax_joint=0.102041;gnomADv4_1_AF_joint=0.0386414;gnomADv4_1_AF_joint_XX=0.0410188;gnomADv4_1_AF_joint_XY=0.0361566;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152272;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=163;gnomADv4_1_nhomalt_joint_XX=91;gnomADv4_1_nhomalt_joint_XY=72;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28881567 chr22_28881567_G_A G A 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.828;CADD_Rawscore=0.140157;CSQ=A|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||||||||||rs5762877|2005|1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28881567G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783694|lncRNA||||||||||rs5762877|1033|-1||||||||||||Ensembl||G|G||||chr22:g.28881567G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783695|lncRNA||||||||||rs5762877|1031|-1||||||||||||Ensembl||G|G||||chr22:g.28881567G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||||||||||rs5762877|2005|1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28881567G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000544604,ENST00000783694,ENST00000783695,NM_001206998.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000302057,ENSG00000302057,84133;VEP_SYMBOL=ZNRF3,.,.,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=61269;gnomADv4_1_AC_joint_XX=31293;gnomADv4_1_AC_joint_XY=29976;gnomADv4_1_AF_grpmax_joint=0.673962;gnomADv4_1_AF_joint=0.408852;gnomADv4_1_AF_joint_XX=0.407886;gnomADv4_1_AF_joint_XY=0.409867;gnomADv4_1_AN_grpmax_joint=41124;gnomADv4_1_AN_joint=149856;gnomADv4_1_AN_joint_XX=76720;gnomADv4_1_AN_joint_XY=73136;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=14934;gnomADv4_1_nhomalt_joint_XX=7654;gnomADv4_1_nhomalt_joint_XY=7280;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28884003 chr22_28884003_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=14.57;CADD_Rawscore=1.56569;CSQ=T|synonymous_variant|LOW|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding|1/9||ENST00000544604.7%3Ac.237C>T|ENSP00000443824.2%3Ap.Thr79%3D|432|237|79|T|acC/acT|rs1065497||1||HGNC|HGNC%3A18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22%3Ag.28884003C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783694|lncRNA||1/1|ENST00000783694.1:n.329+391G>A|||||||rs1065497||-1||||||||||||Ensembl||C|C||||chr22:g.28884003C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783695|lncRNA||1/1|ENST00000783695.1:n.188+391G>A|||||||rs1065497||-1||||||||||||Ensembl||C|C||||chr22:g.28884003C>T|||||||||||||,T|synonymous_variant|LOW|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding|1/9||NM_001206998.2%3Ac.237C>T|NP_001193927.1%3Ap.Thr79%3D|432|237|79|T|acC/acT|rs1065497||1||EntrezGene|HGNC%3A18126|||NP_001193927.1||||||RefSeq||C|C||||chr22%3Ag.28884003C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000544604,ENST00000783694,ENST00000783695,NM_001206998.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000302057,ENSG00000302057,84133;VEP_SYMBOL=ZNRF3,.,.,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=387171;gnomADv4_1_AC_joint_XX=195156;gnomADv4_1_AC_joint_XY=192015;gnomADv4_1_AF_grpmax_joint=0.638716;gnomADv4_1_AF_joint=0.295363;gnomADv4_1_AF_joint_XX=0.293448;gnomADv4_1_AF_joint_XY=0.297335;gnomADv4_1_AN_grpmax_joint=21252;gnomADv4_1_AN_joint=1310830;gnomADv4_1_AN_joint_XX=665044;gnomADv4_1_AN_joint_XY=645786;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=63314;gnomADv4_1_nhomalt_joint_XX=31660;gnomADv4_1_nhomalt_joint_XY=31654;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28885722 chr22_28885722_G_A G A 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=8.163;CADD_Rawscore=0.78671;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+1656G>A|||||||rs7287918||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28885722G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783694|lncRNA||||||||||rs7287918|1000|-1||||||||||||Ensembl||G|G||||chr22:g.28885722G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783695|lncRNA||||||||||rs7287918|1141|-1||||||||||||Ensembl||G|G||||chr22:g.28885722G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+1656G>A|||||||rs7287918||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28885722G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000544604,ENST00000783694,ENST00000783695,NM_001206998.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000302057,ENSG00000302057,84133;VEP_SYMBOL=ZNRF3,.,.,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=59713;gnomADv4_1_AC_joint_XX=30494;gnomADv4_1_AC_joint_XY=29219;gnomADv4_1_AF_grpmax_joint=0.608359;gnomADv4_1_AF_joint=0.3929;gnomADv4_1_AF_joint_XX=0.392499;gnomADv4_1_AF_joint_XY=0.393321;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=151980;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12914;gnomADv4_1_nhomalt_joint_XX=6638;gnomADv4_1_nhomalt_joint_XY=6276;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28885930 chr22_28885930_CA_C CA C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.36;CADDIndel_Rawscore=-0.275378;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+1878del|||||||rs5844826||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1|13|chr22:g.28885944del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783694|lncRNA||||||||||rs5844826|1209|-1||||||||||||Ensembl||A|A||||chr22:g.28885944del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783695|lncRNA||||||||||rs5844826|1350|-1||||||||||||Ensembl||A|A||||chr22:g.28885944del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+1878del|||||||rs5844826||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A|||13|chr22:g.28885944del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000544604,ENST00000783694,ENST00000783695,NM_001206998.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000302057,ENSG00000302057,84133;VEP_SYMBOL=ZNRF3,.,.,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=44519;gnomADv4_1_AC_joint_XX=22871;gnomADv4_1_AC_joint_XY=21648;gnomADv4_1_AF_grpmax_joint=0.512278;gnomADv4_1_AF_joint=0.35238;gnomADv4_1_AF_joint_XX=0.349924;gnomADv4_1_AF_joint_XY=0.355013;gnomADv4_1_AN_grpmax_joint=4724;gnomADv4_1_AN_joint=126338;gnomADv4_1_AN_joint_XX=65360;gnomADv4_1_AN_joint_XY=60978;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6833;gnomADv4_1_nhomalt_joint_XX=3521;gnomADv4_1_nhomalt_joint_XY=3312;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28886691 chr22_28886691_A_G A G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.701;CADD_Rawscore=0.121109;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+2625A>G|||||||rs715531||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28886691A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783694|lncRNA||||||||||rs715531|1969|-1||||||||||||Ensembl||A|A||||chr22:g.28886691A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783695|lncRNA||||||||||rs715531|2110|-1||||||||||||Ensembl||A|A||||chr22:g.28886691A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+2625A>G|||||||rs715531||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28886691A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000544604,ENST00000783694,ENST00000783695,NM_001206998.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000302057,ENSG00000302057,84133;VEP_SYMBOL=ZNRF3,.,.,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=64051;gnomADv4_1_AC_joint_XX=32693;gnomADv4_1_AC_joint_XY=31358;gnomADv4_1_AF_grpmax_joint=0.655831;gnomADv4_1_AF_joint=0.421416;gnomADv4_1_AF_joint_XX=0.420835;gnomADv4_1_AF_joint_XY=0.422023;gnomADv4_1_AN_grpmax_joint=41468;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=15489;gnomADv4_1_nhomalt_joint_XX=7967;gnomADv4_1_nhomalt_joint_XY=7522;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28887231 chr22_28887231_AGAGAGT_A;chr22_28887235_A_AGAGT AGAGAGT A 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=39;CADDIndel_PHREDscore=2.31;CADDIndel_Rawscore=0.202357;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+3167_300+3172del|||||||rs57400083||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||GAGAGT|GAGAGT||1|1|chr22:g.28887233_28887238del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783694|lncRNA||||||||||rs57400083|2510|-1||||||||||||Ensembl||GAGAGT|GAGAGT||||chr22:g.28887233_28887238del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783695|lncRNA||||||||||rs57400083|2651|-1||||||||||||Ensembl||GAGAGT|GAGAGT||||chr22:g.28887233_28887238del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+3167_300+3172del|||||||rs57400083||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||GAGAGT|GAGAGT|||1|chr22:g.28887233_28887238del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000544604,ENST00000783694,ENST00000783695,NM_001206998.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000302057,ENSG00000302057,84133;VEP_SYMBOL=ZNRF3,.,.,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=11888;gnomADv4_1_AC_joint_XX=5981;gnomADv4_1_AC_joint_XY=5907;gnomADv4_1_AF_grpmax_joint=0.291382;gnomADv4_1_AF_joint=0.106476;gnomADv4_1_AF_joint_XX=0.104673;gnomADv4_1_AF_joint_XY=0.108365;gnomADv4_1_AN_grpmax_joint=2924;gnomADv4_1_AN_joint=111650;gnomADv4_1_AN_joint_XX=57140;gnomADv4_1_AN_joint_XY=54510;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=584;gnomADv4_1_nhomalt_joint_XX=272;gnomADv4_1_nhomalt_joint_XY=312;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28887235 chr22_28887231_AGAGAGT_A;chr22_28887235_A_AGAGT A AGAGT 39 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=15;CADDIndel_PHREDscore=0.715;CADDIndel_Rawscore=-0.103465;CSQ=GAGT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+3170_300+3171insAGTG|||||||rs376319811||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|1|chr22:g.28887236_28887237insAGTG|||||||||||||,GAGT|upstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783694|lncRNA||||||||||rs376319811|2513|-1||||||||||||Ensembl|||||||chr22:g.28887236_28887237insAGTG|||||||||||||,GAGT|upstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783695|lncRNA||||||||||rs376319811|2654|-1||||||||||||Ensembl|||||||chr22:g.28887236_28887237insAGTG|||||||||||||,GAGT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+3170_300+3171insAGTG|||||||rs376319811||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||1|chr22:g.28887236_28887237insAGTG|||||||||||||;TYPE=INDEL;VEP_Allele=GAGT,GAGT,GAGT,GAGT;VEP_Feature=ENST00000544604,ENST00000783694,ENST00000783695,NM_001206998.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000302057,ENSG00000302057,84133;VEP_SYMBOL=ZNRF3,.,.,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=6526;gnomADv4_1_AC_joint_XX=3438;gnomADv4_1_AC_joint_XY=3088;gnomADv4_1_AF_grpmax_joint=0.15;gnomADv4_1_AF_joint=0.0701479;gnomADv4_1_AF_joint_XX=0.0711831;gnomADv4_1_AF_joint_XY=0.0690303;gnomADv4_1_AN_grpmax_joint=200;gnomADv4_1_AN_joint=93032;gnomADv4_1_AN_joint_XX=48298;gnomADv4_1_AN_joint_XY=44734;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=216;gnomADv4_1_nhomalt_joint_XX=109;gnomADv4_1_nhomalt_joint_XY=107;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28887530 chr22_28887530_A_G A G 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.278;CADD_Rawscore=0.046056;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+3464A>G|||||||rs1318026||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28887530A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783694|lncRNA||||||||||rs1318026|2808|-1||||||||||||Ensembl||A|A||||chr22:g.28887530A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783695|lncRNA||||||||||rs1318026|2949|-1||||||||||||Ensembl||A|A||||chr22:g.28887530A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+3464A>G|||||||rs1318026||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28887530A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000544604,ENST00000783694,ENST00000783695,NM_001206998.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000302057,ENSG00000302057,84133;VEP_SYMBOL=ZNRF3,.,.,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=61753;gnomADv4_1_AC_joint_XX=31506;gnomADv4_1_AC_joint_XY=30247;gnomADv4_1_AF_grpmax_joint=0.612336;gnomADv4_1_AF_joint=0.406302;gnomADv4_1_AF_joint_XX=0.405493;gnomADv4_1_AF_joint_XY=0.407148;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=151988;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14094;gnomADv4_1_nhomalt_joint_XX=7237;gnomADv4_1_nhomalt_joint_XY=6857;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28887769 chr22_28887769_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=14.1;CADD_Rawscore=1.48533;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+3703C>T|||||||rs1318025||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28887769C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783694|lncRNA||||||||||rs1318025|3047|-1||||||||||||Ensembl||C|C||||chr22:g.28887769C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783695|lncRNA||||||||||rs1318025|3188|-1||||||||||||Ensembl||C|C||||chr22:g.28887769C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+3703C>T|||||||rs1318025||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28887769C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000544604,ENST00000783694,ENST00000783695,NM_001206998.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000302057,ENSG00000302057,84133;VEP_SYMBOL=ZNRF3,.,.,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=59703;gnomADv4_1_AC_joint_XX=30500;gnomADv4_1_AC_joint_XY=29203;gnomADv4_1_AF_grpmax_joint=0.607267;gnomADv4_1_AF_joint=0.392897;gnomADv4_1_AF_joint_XX=0.392626;gnomADv4_1_AF_joint_XY=0.393179;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=151956;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12919;gnomADv4_1_nhomalt_joint_XX=6646;gnomADv4_1_nhomalt_joint_XY=6273;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28889160 chr22_28889160_T_C T C 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=9.022;CADD_Rawscore=0.875998;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+5094T>C|||||||rs35814864||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28889160T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783694|lncRNA||||||||||rs35814864|4438|-1||||||||||||Ensembl||T|T||||chr22:g.28889160T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000302057|Transcript|ENST00000783695|lncRNA||||||||||rs35814864|4579|-1||||||||||||Ensembl||T|T||||chr22:g.28889160T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+5094T>C|||||||rs35814864||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28889160T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000544604,ENST00000783694,ENST00000783695,NM_001206998.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000302057,ENSG00000302057,84133;VEP_SYMBOL=ZNRF3,.,.,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=15187;gnomADv4_1_AC_joint_XX=7719;gnomADv4_1_AC_joint_XY=7468;gnomADv4_1_AF_grpmax_joint=0.249585;gnomADv4_1_AF_joint=0.099795;gnomADv4_1_AF_joint_XX=0.0992491;gnomADv4_1_AF_joint_XY=0.100366;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152182;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1008;gnomADv4_1_nhomalt_joint_XX=498;gnomADv4_1_nhomalt_joint_XY=510;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28890192 chr22_28890192_C_T C T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.27;CADD_Rawscore=-0.3492;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+6126C>T|||||||rs5762879||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28890192C>T|||1||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+6126C>T|||||||rs5762879||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28890192C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=33766;gnomADv4_1_AC_joint_XX=17028;gnomADv4_1_AC_joint_XY=16738;gnomADv4_1_AF_grpmax_joint=0.389419;gnomADv4_1_AF_joint=0.221975;gnomADv4_1_AF_joint_XX=0.218998;gnomADv4_1_AF_joint_XY=0.225088;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3996;gnomADv4_1_nhomalt_joint_XX=1974;gnomADv4_1_nhomalt_joint_XY=2022;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28890417 chr22_28890417_G_A G A 59 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=3.127;CADD_Rawscore=0.286559;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+6351G>A|||||||rs35050306||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28890417G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+6351G>A|||||||rs35050306||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28890417G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=15577;gnomADv4_1_AC_joint_XX=7934;gnomADv4_1_AC_joint_XY=7643;gnomADv4_1_AF_grpmax_joint=0.250935;gnomADv4_1_AF_joint=0.102387;gnomADv4_1_AF_joint_XX=0.102035;gnomADv4_1_AF_joint_XY=0.102756;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1027;gnomADv4_1_nhomalt_joint_XX=506;gnomADv4_1_nhomalt_joint_XY=521;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28891742 chr22_28891742_C_T C T 59 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.19;CADD_Rawscore=0.027489;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+7676C>T|||||||rs2064261||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28891742C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+7676C>T|||||||rs2064261||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28891742C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=59855;gnomADv4_1_AC_joint_XX=30565;gnomADv4_1_AC_joint_XY=29290;gnomADv4_1_AF_grpmax_joint=0.60888;gnomADv4_1_AF_joint=0.393452;gnomADv4_1_AF_joint_XX=0.393068;gnomADv4_1_AF_joint_XY=0.393852;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152128;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12985;gnomADv4_1_nhomalt_joint_XX=6675;gnomADv4_1_nhomalt_joint_XY=6310;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28891828 chr22_28891828_T_G T G 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.108;CADD_Rawscore=0.177926;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+7762T>G|||||||rs5762880||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28891828T>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+7762T>G|||||||rs5762880||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28891828T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=59761;gnomADv4_1_AC_joint_XX=30533;gnomADv4_1_AC_joint_XY=29228;gnomADv4_1_AF_grpmax_joint=0.60735;gnomADv4_1_AF_joint=0.393175;gnomADv4_1_AF_joint_XX=0.39294;gnomADv4_1_AF_joint_XY=0.393421;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=151996;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12950;gnomADv4_1_nhomalt_joint_XX=6661;gnomADv4_1_nhomalt_joint_XY=6289;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28893262 chr22_28893262_T_C T C 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=13.35;CADD_Rawscore=1.36533;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+9196T>C|||||||rs6005936||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28893262T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+9196T>C|||||||rs6005936||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28893262T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=65041;gnomADv4_1_AC_joint_XX=33229;gnomADv4_1_AC_joint_XY=31812;gnomADv4_1_AF_grpmax_joint=0.677103;gnomADv4_1_AF_joint=0.427777;gnomADv4_1_AF_joint_XX=0.427438;gnomADv4_1_AF_joint_XY=0.428133;gnomADv4_1_AN_grpmax_joint=41456;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=16124;gnomADv4_1_nhomalt_joint_XX=8290;gnomADv4_1_nhomalt_joint_XY=7834;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28893358 chr22_28893358_C_A C A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.682;CADD_Rawscore=-0.11537;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+9292C>A|||||||rs5762881||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28893358C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+9292C>A|||||||rs5762881||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28893358C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=61758;gnomADv4_1_AC_joint_XX=31531;gnomADv4_1_AC_joint_XY=30227;gnomADv4_1_AF_grpmax_joint=0.611628;gnomADv4_1_AF_joint=0.406774;gnomADv4_1_AF_joint_XX=0.406024;gnomADv4_1_AF_joint_XY=0.407559;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151824;gnomADv4_1_AN_joint_XX=77658;gnomADv4_1_AN_joint_XY=74166;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14101;gnomADv4_1_nhomalt_joint_XX=7252;gnomADv4_1_nhomalt_joint_XY=6849;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28894338 chr22_28894338_C_CT C CT 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=42;CADDIndel_PHREDscore=1.571;CADDIndel_Rawscore=0.100332;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+10287dup|||||||rs139430||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|15|chr22:g.28894353dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+10287dup|||||||rs139430||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||15|chr22:g.28894353dup|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FGMN|enhancer||||||||||rs139430|||||||||||||||||||||chr22:g.28894353dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T;VEP_Feature=ENST00000544604,NM_001206998.2,ENSR22_9FGMN;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=44123;gnomADv4_1_AC_joint_XX=23033;gnomADv4_1_AC_joint_XY=21090;gnomADv4_1_AF_grpmax_joint=0.48049;gnomADv4_1_AF_joint=0.316866;gnomADv4_1_AF_joint_XX=0.319114;gnomADv4_1_AF_joint_XY=0.314448;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=139248;gnomADv4_1_AN_joint_XX=72178;gnomADv4_1_AN_joint_XY=67070;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7587;gnomADv4_1_nhomalt_joint_XX=3981;gnomADv4_1_nhomalt_joint_XY=3606;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28894692 chr22_28894692_C_A C A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=14.64;CADD_Rawscore=1.57872;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+10626C>A|||||||rs5762882||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28894692C>A|||1||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+10626C>A|||||||rs5762882||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28894692C>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=59771;gnomADv4_1_AC_joint_XX=30553;gnomADv4_1_AC_joint_XY=29218;gnomADv4_1_AF_grpmax_joint=0.608333;gnomADv4_1_AF_joint=0.39321;gnomADv4_1_AF_joint_XX=0.393035;gnomADv4_1_AF_joint_XY=0.393392;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12944;gnomADv4_1_nhomalt_joint_XX=6663;gnomADv4_1_nhomalt_joint_XY=6281;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28894993 chr22_28894993_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.057;CADD_Rawscore=-0.761959;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+10927C>T|||||||rs9620841||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28894993C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+10927C>T|||||||rs9620841||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28894993C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=61733;gnomADv4_1_AC_joint_XX=31504;gnomADv4_1_AC_joint_XY=30229;gnomADv4_1_AF_grpmax_joint=0.613211;gnomADv4_1_AF_joint=0.406363;gnomADv4_1_AF_joint_XX=0.405572;gnomADv4_1_AF_joint_XY=0.40719;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=151916;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14080;gnomADv4_1_nhomalt_joint_XX=7231;gnomADv4_1_nhomalt_joint_XY=6849;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28896147 chr22_28896147_C_T C T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.202;CADD_Rawscore=0.030062;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+12081C>T|||||||rs8137262||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28896147C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+12081C>T|||||||rs8137262||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28896147C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=58696;gnomADv4_1_AC_joint_XX=29984;gnomADv4_1_AC_joint_XY=28712;gnomADv4_1_AF_grpmax_joint=0.606396;gnomADv4_1_AF_joint=0.396584;gnomADv4_1_AF_joint_XX=0.395682;gnomADv4_1_AF_joint_XY=0.39753;gnomADv4_1_AN_grpmax_joint=4972;gnomADv4_1_AN_joint=148004;gnomADv4_1_AN_joint_XX=75778;gnomADv4_1_AN_joint_XY=72226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12455;gnomADv4_1_nhomalt_joint_XX=6393;gnomADv4_1_nhomalt_joint_XY=6062;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28896238 chr22_28896238_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.85;CADD_Rawscore=-0.059605;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+12172G>A|||||||rs8136297||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28896238G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+12172G>A|||||||rs8136297||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28896238G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=59101;gnomADv4_1_AC_joint_XX=30192;gnomADv4_1_AC_joint_XY=28909;gnomADv4_1_AF_grpmax_joint=0.602539;gnomADv4_1_AF_joint=0.389715;gnomADv4_1_AF_joint_XX=0.389584;gnomADv4_1_AF_joint_XY=0.389851;gnomADv4_1_AN_grpmax_joint=5120;gnomADv4_1_AN_joint=151652;gnomADv4_1_AN_joint_XX=77498;gnomADv4_1_AN_joint_XY=74154;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12593;gnomADv4_1_nhomalt_joint_XX=6466;gnomADv4_1_nhomalt_joint_XY=6127;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28897174 chr22_28897174_G_C G C 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.019;CADD_Rawscore=-1.06583;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+13108G>C|||||||rs59224170||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28897174G>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+13108G>C|||||||rs59224170||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28897174G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=15537;gnomADv4_1_AC_joint_XX=7913;gnomADv4_1_AC_joint_XY=7624;gnomADv4_1_AF_grpmax_joint=0.251452;gnomADv4_1_AF_joint=0.102123;gnomADv4_1_AF_joint_XX=0.101762;gnomADv4_1_AF_joint_XY=0.102501;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152140;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1021;gnomADv4_1_nhomalt_joint_XX=501;gnomADv4_1_nhomalt_joint_XY=520;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28897381 chr22_28897381_C_T C T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.738;CADD_Rawscore=-0.095691;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+13315C>T|||||||rs59203761||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28897381C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+13315C>T|||||||rs59203761||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28897381C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=15551;gnomADv4_1_AC_joint_XX=7919;gnomADv4_1_AC_joint_XY=7632;gnomADv4_1_AF_grpmax_joint=0.251036;gnomADv4_1_AF_joint=0.102118;gnomADv4_1_AF_joint_XX=0.101758;gnomADv4_1_AF_joint_XY=0.102495;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152284;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1025;gnomADv4_1_nhomalt_joint_XX=502;gnomADv4_1_nhomalt_joint_XY=523;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28898519 chr22_28898519_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.59;CADD_Rawscore=0.512376;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+14453T>C|||||||rs132527||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28898519T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+14453T>C|||||||rs132527||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28898519T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=151445;gnomADv4_1_AC_joint_XX=77378;gnomADv4_1_AC_joint_XY=74067;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.993903;gnomADv4_1_AF_joint_XX=0.993809;gnomADv4_1_AF_joint_XY=0.994001;gnomADv4_1_AN_grpmax_joint=5192;gnomADv4_1_AN_joint=152374;gnomADv4_1_AN_joint_XX=77860;gnomADv4_1_AN_joint_XY=74514;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=75261;gnomADv4_1_nhomalt_joint_XX=38449;gnomADv4_1_nhomalt_joint_XY=36812;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28898926 chr22_28898926_G_GT G GT 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=32;CADDIndel_PHREDscore=0.242;CADDIndel_Rawscore=-0.376891;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+14884dup|||||||rs34713478||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|24|chr22:g.28898950dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+14884dup|||||||rs34713478||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||24|chr22:g.28898950dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=16132;gnomADv4_1_AC_joint_XX=9018;gnomADv4_1_AC_joint_XY=7114;gnomADv4_1_AF_grpmax_joint=0.234324;gnomADv4_1_AF_joint=0.141782;gnomADv4_1_AF_joint_XX=0.148557;gnomADv4_1_AF_joint_XY=0.134034;gnomADv4_1_AN_grpmax_joint=3094;gnomADv4_1_AN_joint=113780;gnomADv4_1_AN_joint_XX=60704;gnomADv4_1_AN_joint_XY=53076;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1130;gnomADv4_1_nhomalt_joint_XX=646;gnomADv4_1_nhomalt_joint_XY=484;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28899693 chr22_28899693_C_T C T 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.75;AF_XX=.;AF_XY=0.75;AN=4;AN_XX=0;AN_XY=4;AQ=41;CADD_PHREDscore=0.106;CADD_Rawscore=-0.595196;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+15627C>T|||||||rs5762888||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28899693C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+15627C>T|||||||rs5762888||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28899693C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=78562;gnomADv4_1_AC_joint_XX=41983;gnomADv4_1_AC_joint_XY=36579;gnomADv4_1_AF_grpmax_joint=0.694815;gnomADv4_1_AF_joint=0.594006;gnomADv4_1_AF_joint_XX=0.599689;gnomADv4_1_AF_joint_XY=0.587614;gnomADv4_1_AN_grpmax_joint=63948;gnomADv4_1_AN_joint=132258;gnomADv4_1_AN_joint_XX=70008;gnomADv4_1_AN_joint_XY=62250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=24413;gnomADv4_1_nhomalt_joint_XX=13194;gnomADv4_1_nhomalt_joint_XY=11219;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28899910 chr22_28899910_C_T C T 59 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.561;CADD_Rawscore=0.098602;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+15844C>T|||||||rs132528||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28899910C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+15844C>T|||||||rs132528||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28899910C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=87734;gnomADv4_1_AC_joint_XX=44916;gnomADv4_1_AC_joint_XY=42818;gnomADv4_1_AF_grpmax_joint=0.697462;gnomADv4_1_AF_joint=0.577806;gnomADv4_1_AF_joint_XX=0.578576;gnomADv4_1_AF_joint_XY=0.577;gnomADv4_1_AN_grpmax_joint=67932;gnomADv4_1_AN_joint=151840;gnomADv4_1_AN_joint_XX=77632;gnomADv4_1_AN_joint_XY=74208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=27389;gnomADv4_1_nhomalt_joint_XX=14090;gnomADv4_1_nhomalt_joint_XY=13299;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28900664 chr22_28900664_A_G A G 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=6.853;CADD_Rawscore=0.642171;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+16598A>G|||||||rs132529||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28900664A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+16598A>G|||||||rs132529||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28900664A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=83403;gnomADv4_1_AC_joint_XX=42658;gnomADv4_1_AC_joint_XY=40745;gnomADv4_1_AF_grpmax_joint=0.696681;gnomADv4_1_AF_joint=0.548437;gnomADv4_1_AF_joint_XX=0.548712;gnomADv4_1_AF_joint_XY=0.548149;gnomADv4_1_AN_grpmax_joint=67978;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26006;gnomADv4_1_nhomalt_joint_XX=13353;gnomADv4_1_nhomalt_joint_XY=12653;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28900943 chr22_28900943_C_A C A 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.666;CADD_Rawscore=-0.121263;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+16877C>A|||||||rs132530||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28900943C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+16877C>A|||||||rs132530||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28900943C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=138941;gnomADv4_1_AC_joint_XX=70864;gnomADv4_1_AC_joint_XY=68077;gnomADv4_1_AF_grpmax_joint=0.96894;gnomADv4_1_AF_joint=0.915085;gnomADv4_1_AF_joint_XX=0.912561;gnomADv4_1_AF_joint_XY=0.917727;gnomADv4_1_AN_grpmax_joint=67998;gnomADv4_1_AN_joint=151834;gnomADv4_1_AN_joint_XX=77654;gnomADv4_1_AN_joint_XY=74180;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=64130;gnomADv4_1_nhomalt_joint_XX=32645;gnomADv4_1_nhomalt_joint_XY=31485;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28901377 chr22_28901377_C_T C T 58 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=2.732;CADD_Rawscore=0.248015;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+17311C>T|||||||rs132531||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28901377C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+17311C>T|||||||rs132531||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28901377C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=86524;gnomADv4_1_AC_joint_XX=44256;gnomADv4_1_AC_joint_XY=42268;gnomADv4_1_AF_grpmax_joint=0.697029;gnomADv4_1_AF_joint=0.569349;gnomADv4_1_AF_joint_XX=0.569693;gnomADv4_1_AF_joint_XY=0.56899;gnomADv4_1_AN_grpmax_joint=67980;gnomADv4_1_AN_joint=151970;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26945;gnomADv4_1_nhomalt_joint_XX=13830;gnomADv4_1_nhomalt_joint_XY=13115;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28901635 chr22_28901635_CT_C;chr22_28901635_CTT_C CT C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=44;CADDIndel_PHREDscore=0.899;CADDIndel_Rawscore=-0.045234;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+17590del|||||||rs132532||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1|20|chr22:g.28901656del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+17590del|||||||rs132532||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T|||20|chr22:g.28901656del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=43212;gnomADv4_1_AC_joint_XX=23288;gnomADv4_1_AC_joint_XY=19924;gnomADv4_1_AF_grpmax_joint=0.628778;gnomADv4_1_AF_joint=0.576791;gnomADv4_1_AF_joint_XX=0.576008;gnomADv4_1_AF_joint_XY=0.577708;gnomADv4_1_AN_grpmax_joint=36994;gnomADv4_1_AN_joint=74918;gnomADv4_1_AN_joint_XX=40430;gnomADv4_1_AN_joint_XY=34488;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10167;gnomADv4_1_nhomalt_joint_XX=5373;gnomADv4_1_nhomalt_joint_XY=4794;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28901635 chr22_28901635_CT_C;chr22_28901635_CTT_C CTT C 44 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=15;CADDIndel_PHREDscore=0.886;CADDIndel_Rawscore=-0.049023;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+17589_300+17590del|||||||rs132532||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||TT|TT||1|19|chr22:g.28901655_28901656del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+17589_300+17590del|||||||rs132532||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||TT|TT|||19|chr22:g.28901655_28901656del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=9803;gnomADv4_1_AC_joint_XX=5207;gnomADv4_1_AC_joint_XY=4596;gnomADv4_1_AF_grpmax_joint=0.2375;gnomADv4_1_AF_joint=0.130224;gnomADv4_1_AF_joint_XX=0.128226;gnomADv4_1_AF_joint_XY=0.132564;gnomADv4_1_AN_grpmax_joint=160;gnomADv4_1_AN_joint=75278;gnomADv4_1_AN_joint_XX=40608;gnomADv4_1_AN_joint_XY=34670;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=348;gnomADv4_1_nhomalt_joint_XX=161;gnomADv4_1_nhomalt_joint_XY=187;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28901932 chr22_28901932_CT_C CT C 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=1.142;CADDIndel_Rawscore=0.016672;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+17887del|||||||rs398036773||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1|20|chr22:g.28901953del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+17887del|||||||rs398036773||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T|||20|chr22:g.28901953del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=16232;gnomADv4_1_AC_joint_XX=8771;gnomADv4_1_AC_joint_XY=7461;gnomADv4_1_AF_grpmax_joint=0.403226;gnomADv4_1_AF_joint=0.143733;gnomADv4_1_AF_joint_XX=0.146315;gnomADv4_1_AF_joint_XY=0.140811;gnomADv4_1_AN_grpmax_joint=3162;gnomADv4_1_AN_joint=112932;gnomADv4_1_AN_joint_XX=59946;gnomADv4_1_AN_joint_XY=52986;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=721;gnomADv4_1_nhomalt_joint_XX=368;gnomADv4_1_nhomalt_joint_XY=353;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28903313 chr22_28903313_T_G T G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.044;CADD_Rawscore=-0.835703;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+19247T>G|||||||rs469988||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28903313T>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+19247T>G|||||||rs469988||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28903313T>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TFT|enhancer||||||||||rs469988|||||||||||||||||||||chr22:g.28903313T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000544604,NM_001206998.2,ENSR22_C4TFT;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=137172;gnomADv4_1_AC_joint_XX=69813;gnomADv4_1_AC_joint_XY=67359;gnomADv4_1_AF_grpmax_joint=0.969084;gnomADv4_1_AF_joint=0.902162;gnomADv4_1_AF_joint_XX=0.898263;gnomADv4_1_AF_joint_XY=0.90624;gnomADv4_1_AN_grpmax_joint=68022;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=62776;gnomADv4_1_nhomalt_joint_XX=31868;gnomADv4_1_nhomalt_joint_XY=30908;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28903583 chr22_28903583_A_G A G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.72;CADD_Rawscore=0.124107;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+19517A>G|||||||rs132533||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28903583A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+19517A>G|||||||rs132533||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28903583A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TFT|enhancer||||||||||rs132533|||||||||||||||||||||chr22:g.28903583A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000544604,NM_001206998.2,ENSR22_C4TFT;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=92221;gnomADv4_1_AC_joint_XX=47199;gnomADv4_1_AC_joint_XY=45022;gnomADv4_1_AF_grpmax_joint=0.699055;gnomADv4_1_AF_joint=0.607917;gnomADv4_1_AF_joint_XX=0.608093;gnomADv4_1_AF_joint_XY=0.607732;gnomADv4_1_AN_grpmax_joint=15232;gnomADv4_1_AN_joint=151700;gnomADv4_1_AN_joint_XX=77618;gnomADv4_1_AN_joint_XY=74082;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=29203;gnomADv4_1_nhomalt_joint_XX=14991;gnomADv4_1_nhomalt_joint_XY=14212;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28903818 chr22_28903818_T_C T C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.729;CADD_Rawscore=0.247714;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+19752T>C|||||||rs132534||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28903818T>C|||1||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+19752T>C|||||||rs132534||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28903818T>C|||1||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TFT|enhancer||||||||||rs132534|||||||||||||||||||||chr22:g.28903818T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000544604,NM_001206998.2,ENSR22_C4TFT;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=100698;gnomADv4_1_AC_joint_XX=51259;gnomADv4_1_AC_joint_XY=49439;gnomADv4_1_AF_grpmax_joint=0.760676;gnomADv4_1_AF_joint=0.662705;gnomADv4_1_AF_joint_XX=0.659874;gnomADv4_1_AF_joint_XY=0.665666;gnomADv4_1_AN_grpmax_joint=15268;gnomADv4_1_AN_joint=151950;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=34402;gnomADv4_1_nhomalt_joint_XX=17458;gnomADv4_1_nhomalt_joint_XY=16944;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28904124 chr22_28904124_C_T C T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=6.896;CADD_Rawscore=0.646809;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+20058C>T|||||||rs112017707||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28904124C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+20058C>T|||||||rs112017707||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28904124C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TFT|enhancer||||||||||rs112017707|||||||||||||||||||||chr22:g.28904124C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000544604,NM_001206998.2,ENSR22_C4TFT;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=624;gnomADv4_1_AC_joint_XX=337;gnomADv4_1_AC_joint_XY=287;gnomADv4_1_AF_grpmax_joint=0.0272109;gnomADv4_1_AF_joint=0.00409906;gnomADv4_1_AF_joint_XX=0.00433218;gnomADv4_1_AF_joint_XY=0.00385545;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152230;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28904318 chr22_28904318_C_T C T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=19.68;CADD_Rawscore=2.65806;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+20252C>T|||||||rs16986825||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28904318C>T|||1||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+20252C>T|||||||rs16986825||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28904318C>T|||1||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TFT|enhancer||||||||||rs16986825|||||||||||||||||||||chr22:g.28904318C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000544604,NM_001206998.2,ENSR22_C4TFT;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=20559;gnomADv4_1_AC_joint_XX=10326;gnomADv4_1_AC_joint_XY=10233;gnomADv4_1_AF_grpmax_joint=0.427023;gnomADv4_1_AF_joint=0.135107;gnomADv4_1_AF_joint_XX=0.132759;gnomADv4_1_AF_joint_XY=0.137563;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152168;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1933;gnomADv4_1_nhomalt_joint_XX=919;gnomADv4_1_nhomalt_joint_XY=1014;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28906236 chr22_28906236_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.288;CADD_Rawscore=-0.332577;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+22170T>C|||||||rs132535||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28906236T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+22170T>C|||||||rs132535||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28906236T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=134104;gnomADv4_1_AC_joint_XX=68239;gnomADv4_1_AC_joint_XY=65865;gnomADv4_1_AF_grpmax_joint=0.968562;gnomADv4_1_AF_joint=0.880826;gnomADv4_1_AF_joint_XX=0.877334;gnomADv4_1_AF_joint_XY=0.884474;gnomADv4_1_AN_grpmax_joint=68038;gnomADv4_1_AN_joint=152248;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=60529;gnomADv4_1_nhomalt_joint_XX=30694;gnomADv4_1_nhomalt_joint_XY=29835;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28906918 chr22_28906918_A_G A G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=17.13;CADD_Rawscore=2.08107;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+22852A>G|||||||rs132536||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28906918A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+22852A>G|||||||rs132536||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28906918A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=91114;gnomADv4_1_AC_joint_XX=46788;gnomADv4_1_AC_joint_XY=44326;gnomADv4_1_AF_grpmax_joint=0.697377;gnomADv4_1_AF_joint=0.600224;gnomADv4_1_AF_joint_XX=0.602581;gnomADv4_1_AF_joint_XY=0.597756;gnomADv4_1_AN_grpmax_joint=67946;gnomADv4_1_AN_joint=151800;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=74154;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=28659;gnomADv4_1_nhomalt_joint_XX=14790;gnomADv4_1_nhomalt_joint_XY=13869;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28907149 chr22_28907149_G_A;chr22_28907149_G_GT G A 54 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=0.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=1.123;CADD_Rawscore=0.012206;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+23083G>A|||||||rs132537||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28907149G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+23083G>A|||||||rs132537||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28907149G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=102973;gnomADv4_1_AC_joint_XX=52844;gnomADv4_1_AC_joint_XY=50129;gnomADv4_1_AF_grpmax_joint=0.777509;gnomADv4_1_AF_joint=0.700859;gnomADv4_1_AF_joint_XX=0.699457;gnomADv4_1_AF_joint_XY=0.702343;gnomADv4_1_AN_grpmax_joint=14886;gnomADv4_1_AN_joint=146924;gnomADv4_1_AN_joint_XX=75550;gnomADv4_1_AN_joint_XY=71374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=36349;gnomADv4_1_nhomalt_joint_XX=18613;gnomADv4_1_nhomalt_joint_XY=17736;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28907149 chr22_28907149_G_A;chr22_28907149_G_GT G GT 54 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=0.5;AF_XX=1.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADDIndel_PHREDscore=0.495;CADDIndel_Rawscore=-0.195769;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+23099dup|||||||rs3884979||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|16|chr22:g.28907165dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+23099dup|||||||rs3884979||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||16|chr22:g.28907165dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=18870;gnomADv4_1_AC_joint_XX=9631;gnomADv4_1_AC_joint_XY=9239;gnomADv4_1_AF_grpmax_joint=0.406327;gnomADv4_1_AF_joint=0.128781;gnomADv4_1_AF_joint_XX=0.127776;gnomADv4_1_AF_joint_XY=0.129845;gnomADv4_1_AN_grpmax_joint=4900;gnomADv4_1_AN_joint=146528;gnomADv4_1_AN_joint_XX=75374;gnomADv4_1_AN_joint_XY=71154;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1758;gnomADv4_1_nhomalt_joint_XX=859;gnomADv4_1_nhomalt_joint_XY=899;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28907445 chr22_28907445_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=13.26;CADD_Rawscore=1.35258;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+23379A>G|||||||rs132538||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28907445A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+23379A>G|||||||rs132538||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28907445A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=151357;gnomADv4_1_AC_joint_XX=77359;gnomADv4_1_AC_joint_XY=73998;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.993978;gnomADv4_1_AF_joint_XX=0.993923;gnomADv4_1_AF_joint_XY=0.994036;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152274;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=75223;gnomADv4_1_nhomalt_joint_XX=38444;gnomADv4_1_nhomalt_joint_XY=36779;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28907474 chr22_28907474_C_T C T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.857;CADD_Rawscore=-0.057565;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+23408C>T|||||||rs111281649||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28907474C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+23408C>T|||||||rs111281649||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28907474C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=16;gnomADv4_1_AC_joint_XX=12;gnomADv4_1_AC_joint_XY=4;gnomADv4_1_AF_grpmax_joint=0.000196541;gnomADv4_1_AF_joint=0.000105164;gnomADv4_1_AF_joint_XX=0.000154214;gnomADv4_1_AF_joint_XY=5.38141e-05;gnomADv4_1_AN_grpmax_joint=15264;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28907607 chr22_28907607_G_C G C 58 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.389;CADD_Rawscore=0.067969;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+23541G>C|||||||rs469989||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28907607G>C|||1||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+23541G>C|||||||rs469989||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28907607G>C|||1||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FGRH|enhancer||||||||||rs469989|||||||||||||||||||||chr22:g.28907607G>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000544604,NM_001206998.2,ENSR22_9FGRH;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=103159;gnomADv4_1_AC_joint_XX=52675;gnomADv4_1_AC_joint_XY=50484;gnomADv4_1_AF_grpmax_joint=0.767761;gnomADv4_1_AF_joint=0.678669;gnomADv4_1_AF_joint_XX=0.677771;gnomADv4_1_AF_joint_XY=0.679608;gnomADv4_1_AN_grpmax_joint=15286;gnomADv4_1_AN_joint=152002;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=35734;gnomADv4_1_nhomalt_joint_XX=18211;gnomADv4_1_nhomalt_joint_XY=17523;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28908212 chr22_28908212_A_T A T 58 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.498;CADD_Rawscore=-0.194207;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+24146A>T|||||||rs469990||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28908212A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+24146A>T|||||||rs469990||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28908212A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=93696;gnomADv4_1_AC_joint_XX=48072;gnomADv4_1_AC_joint_XY=45624;gnomADv4_1_AF_grpmax_joint=0.703413;gnomADv4_1_AF_joint=0.615951;gnomADv4_1_AF_joint_XX=0.618385;gnomADv4_1_AF_joint_XY=0.613407;gnomADv4_1_AN_grpmax_joint=15294;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=29873;gnomADv4_1_nhomalt_joint_XX=15389;gnomADv4_1_nhomalt_joint_XY=14484;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28908265 chr22_28908265_T_C T C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=11.53;CADD_Rawscore=1.11729;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+24199T>C|||||||rs132539||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28908265T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+24199T>C|||||||rs132539||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28908265T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=103253;gnomADv4_1_AC_joint_XX=52694;gnomADv4_1_AC_joint_XY=50559;gnomADv4_1_AF_grpmax_joint=0.768044;gnomADv4_1_AF_joint=0.679046;gnomADv4_1_AF_joint_XX=0.67812;gnomADv4_1_AF_joint_XY=0.680013;gnomADv4_1_AN_grpmax_joint=15296;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=35784;gnomADv4_1_nhomalt_joint_XX=18227;gnomADv4_1_nhomalt_joint_XY=17557;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28909071 chr22_28909071_G_T G T 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.367;CADD_Rawscore=-0.270547;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+25005G>T|||||||rs132540||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28909071G>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+25005G>T|||||||rs132540||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28909071G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=135524;gnomADv4_1_AC_joint_XX=69097;gnomADv4_1_AC_joint_XY=66427;gnomADv4_1_AF_grpmax_joint=0.966587;gnomADv4_1_AF_joint=0.894914;gnomADv4_1_AF_joint_XX=0.892242;gnomADv4_1_AF_joint_XY=0.897711;gnomADv4_1_AN_grpmax_joint=67848;gnomADv4_1_AN_joint=151438;gnomADv4_1_AN_joint_XX=77442;gnomADv4_1_AN_joint_XY=73996;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=61634;gnomADv4_1_nhomalt_joint_XX=31362;gnomADv4_1_nhomalt_joint_XY=30272;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28909073 chr22_28909073_G_T G T 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.395;CADD_Rawscore=-0.252518;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+25007G>T|||||||rs7364229||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28909073G>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+25007G>T|||||||rs7364229||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28909073G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=35558;gnomADv4_1_AC_joint_XX=17751;gnomADv4_1_AC_joint_XY=17807;gnomADv4_1_AF_grpmax_joint=0.481047;gnomADv4_1_AF_joint=0.234889;gnomADv4_1_AF_joint_XX=0.229116;gnomADv4_1_AF_joint_XY=0.240941;gnomADv4_1_AN_grpmax_joint=5118;gnomADv4_1_AN_joint=151382;gnomADv4_1_AN_joint_XX=77476;gnomADv4_1_AN_joint_XY=73906;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4540;gnomADv4_1_nhomalt_joint_XX=2203;gnomADv4_1_nhomalt_joint_XY=2337;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28909747 chr22_28909747_A_AT;chr22_28909747_A_ATT A AT 33 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=33;CADDIndel_PHREDscore=0.609;CADDIndel_Rawscore=-0.143862;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+25703dup|||||||rs11432409||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|22|chr22:g.28909769dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+25703dup|||||||rs11432409||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||22|chr22:g.28909769dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=65765;gnomADv4_1_AC_joint_XX=35673;gnomADv4_1_AC_joint_XY=30092;gnomADv4_1_AF_grpmax_joint=0.691176;gnomADv4_1_AF_joint=0.577636;gnomADv4_1_AF_joint_XX=0.581827;gnomADv4_1_AF_joint_XY=0.572745;gnomADv4_1_AN_grpmax_joint=204;gnomADv4_1_AN_joint=113852;gnomADv4_1_AN_joint_XX=61312;gnomADv4_1_AN_joint_XY=52540;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=20752;gnomADv4_1_nhomalt_joint_XX=11337;gnomADv4_1_nhomalt_joint_XY=9415;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28909747 chr22_28909747_A_AT;chr22_28909747_A_ATT A ATT 33 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=20;CADDIndel_PHREDscore=0.604;CADDIndel_Rawscore=-0.146113;CSQ=TT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+25702_300+25703dup|||||||rs11432409||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|22|chr22:g.28909768_28909769dup|||||||||||||,TT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+25702_300+25703dup|||||||rs11432409||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||22|chr22:g.28909768_28909769dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=14818;gnomADv4_1_AC_joint_XX=7983;gnomADv4_1_AC_joint_XY=6835;gnomADv4_1_AF_grpmax_joint=0.408803;gnomADv4_1_AF_joint=0.13028;gnomADv4_1_AF_joint_XX=0.130318;gnomADv4_1_AF_joint_XY=0.130235;gnomADv4_1_AN_grpmax_joint=3794;gnomADv4_1_AN_joint=113740;gnomADv4_1_AN_joint_XX=61258;gnomADv4_1_AN_joint_XY=52482;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1421;gnomADv4_1_nhomalt_joint_XX=736;gnomADv4_1_nhomalt_joint_XY=685;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28911170 chr22_28911170_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.248;CADD_Rawscore=0.039884;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+27104A>G|||||||rs132541||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28911170A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+27104A>G|||||||rs132541||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28911170A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000544604,NM_001206998.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183579,84133;VEP_SYMBOL=ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=127044;gnomADv4_1_AC_joint_XX=64713;gnomADv4_1_AC_joint_XY=62331;gnomADv4_1_AF_grpmax_joint=0.951375;gnomADv4_1_AF_joint=0.835574;gnomADv4_1_AF_joint_XX=0.8326;gnomADv4_1_AF_joint_XY=0.838684;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=54194;gnomADv4_1_nhomalt_joint_XX=27517;gnomADv4_1_nhomalt_joint_XY=26677;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28911691 chr22_28911691_GT_G GT G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=0.601;CADDIndel_Rawscore=-0.147132;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+27634del|||||||rs132542||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1|8|chr22:g.28911700del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+27634del|||||||rs132542||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T|||8|chr22:g.28911700del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TGF|enhancer||||||||||rs132542|||||||||||||||||||||chr22:g.28911700del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000544604,NM_001206998.2,ENSR22_C4TGF;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=139235;gnomADv4_1_AC_joint_XX=71058;gnomADv4_1_AC_joint_XY=68177;gnomADv4_1_AF_grpmax_joint=0.968928;gnomADv4_1_AF_joint=0.915911;gnomADv4_1_AF_joint_XX=0.914447;gnomADv4_1_AF_joint_XY=0.917443;gnomADv4_1_AN_grpmax_joint=68004;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=64316;gnomADv4_1_nhomalt_joint_XX=32768;gnomADv4_1_nhomalt_joint_XY=31548;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28911871 chr22_28911871_G_C G C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=13.48;CADD_Rawscore=1.38538;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+27805G>C|||||||rs469991||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28911871G>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+27805G>C|||||||rs469991||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28911871G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TGF|enhancer||||||||||rs469991|||||||||||||||||||||chr22:g.28911871G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000544604,NM_001206998.2,ENSR22_C4TGF;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=91019;gnomADv4_1_AC_joint_XX=46680;gnomADv4_1_AC_joint_XY=44339;gnomADv4_1_AF_grpmax_joint=0.700015;gnomADv4_1_AF_joint=0.599085;gnomADv4_1_AF_joint_XX=0.601175;gnomADv4_1_AF_joint_XY=0.596901;gnomADv4_1_AN_grpmax_joint=67920;gnomADv4_1_AN_joint=151930;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=28677;gnomADv4_1_nhomalt_joint_XX=14769;gnomADv4_1_nhomalt_joint_XY=13908;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28912426 chr22_28912426_C_T C T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=12.02;CADD_Rawscore=1.17662;CSQ=T|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs916332|4963|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28912426C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+28360C>T|||||||rs916332||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28912426C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+28360C>T|||||||rs916332||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28912426C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs916332|4963|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.28912426C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TGF|enhancer||||||||||rs916332|||||||||||||||||||||chr22:g.28912426C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4,ENSR22_C4TGF;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=20154;gnomADv4_1_AC_joint_XX=10079;gnomADv4_1_AC_joint_XY=10075;gnomADv4_1_AF_grpmax_joint=0.427879;gnomADv4_1_AF_joint=0.132559;gnomADv4_1_AF_joint_XX=0.12967;gnomADv4_1_AF_joint_XY=0.135581;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152038;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1952;gnomADv4_1_nhomalt_joint_XX=922;gnomADv4_1_nhomalt_joint_XY=1030;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28912662 chr22_28912662_CTT_C;chr22_28912662_CT_C CTT C 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.431;CADDIndel_Rawscore=-0.230592;CSQ=-|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs138371253|4725|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||TT|TT||1||chr22:g.28912680_28912681del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+28614_300+28615del|||||||rs138371253||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||TT|TT||1|17|chr22:g.28912680_28912681del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+28614_300+28615del|||||||rs138371253||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||TT|TT|||17|chr22:g.28912680_28912681del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs138371253|4725|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||TT|TT||||chr22:g.28912680_28912681del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=59962;gnomADv4_1_AC_joint_XX=31793;gnomADv4_1_AC_joint_XY=28169;gnomADv4_1_AF_grpmax_joint=0.618334;gnomADv4_1_AF_joint=0.505062;gnomADv4_1_AF_joint_XX=0.508363;gnomADv4_1_AF_joint_XY=0.501388;gnomADv4_1_AN_grpmax_joint=55470;gnomADv4_1_AN_joint=118722;gnomADv4_1_AN_joint_XX=62540;gnomADv4_1_AN_joint_XY=56182;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14759;gnomADv4_1_nhomalt_joint_XX=7787;gnomADv4_1_nhomalt_joint_XY=6972;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28912662 chr22_28912662_CTT_C;chr22_28912662_CT_C CT C 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=29;CADDIndel_PHREDscore=0.217;CADDIndel_Rawscore=-0.40578;CSQ=-|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs138371253|4726|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.28912681del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+28615del|||||||rs138371253||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1|18|chr22:g.28912681del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+28615del|||||||rs138371253||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T|||18|chr22:g.28912681del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs138371253|4726|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.28912681del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=2465;gnomADv4_1_AC_joint_XX=1280;gnomADv4_1_AC_joint_XY=1185;gnomADv4_1_AF_grpmax_joint=0.0591558;gnomADv4_1_AF_joint=0.0206362;gnomADv4_1_AF_joint_XX=0.0203394;gnomADv4_1_AF_joint_XY=0.0209668;gnomADv4_1_AN_grpmax_joint=34164;gnomADv4_1_AN_joint=119450;gnomADv4_1_AN_joint_XX=62932;gnomADv4_1_AN_joint_XY=56518;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=52;gnomADv4_1_nhomalt_joint_XX=32;gnomADv4_1_nhomalt_joint_XY=20;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28912809 chr22_28912809_C_T C T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.864;CADD_Rawscore=-0.055544;CSQ=T|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs132543|4580|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28912809C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+28743C>T|||||||rs132543||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28912809C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+28743C>T|||||||rs132543||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28912809C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs132543|4580|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.28912809C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=91980;gnomADv4_1_AC_joint_XX=47189;gnomADv4_1_AC_joint_XY=44791;gnomADv4_1_AF_grpmax_joint=0.697656;gnomADv4_1_AF_joint=0.607385;gnomADv4_1_AF_joint_XX=0.60922;gnomADv4_1_AF_joint_XY=0.605464;gnomADv4_1_AN_grpmax_joint=67830;gnomADv4_1_AN_joint=151436;gnomADv4_1_AN_joint_XX=77458;gnomADv4_1_AN_joint_XY=73978;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=29090;gnomADv4_1_nhomalt_joint_XX=14968;gnomADv4_1_nhomalt_joint_XY=14122;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28914495 chr22_28914495_C_CT C CT 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=39;CADDIndel_PHREDscore=1.297;CADDIndel_Rawscore=0.050043;CSQ=T|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs132544|2893|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1||chr22:g.28914515dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+30449dup|||||||rs132544||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|20|chr22:g.28914515dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+30449dup|||||||rs132544||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||20|chr22:g.28914515dup|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs132544|2893|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq|||||||chr22:g.28914515dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=87907;gnomADv4_1_AC_joint_XX=47142;gnomADv4_1_AC_joint_XY=40765;gnomADv4_1_AF_grpmax_joint=0.843478;gnomADv4_1_AF_joint=0.698107;gnomADv4_1_AF_joint_XX=0.702584;gnomADv4_1_AF_joint_XY=0.692999;gnomADv4_1_AN_grpmax_joint=230;gnomADv4_1_AN_joint=125922;gnomADv4_1_AN_joint_XX=67098;gnomADv4_1_AN_joint_XY=58824;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=33156;gnomADv4_1_nhomalt_joint_XX=17869;gnomADv4_1_nhomalt_joint_XY=15287;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28915283 chr22_28915283_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.124;CADD_Rawscore=-0.554582;CSQ=A|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs739196|2106|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.28915283G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+31217G>A|||||||rs739196||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28915283G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+31217G>A|||||||rs739196||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28915283G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs739196|2106|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.28915283G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=20483;gnomADv4_1_AC_joint_XX=10259;gnomADv4_1_AC_joint_XY=10224;gnomADv4_1_AF_grpmax_joint=0.426556;gnomADv4_1_AF_joint=0.134689;gnomADv4_1_AF_joint_XX=0.131942;gnomADv4_1_AF_joint_XY=0.137564;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1967;gnomADv4_1_nhomalt_joint_XX=926;gnomADv4_1_nhomalt_joint_XY=1041;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28916590 chr22_28916590_C_T C T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=6.163;CADD_Rawscore=0.569808;CSQ=T|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs16986838|799|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28916590C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+32524C>T|||||||rs16986838||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28916590C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+32524C>T|||||||rs16986838||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28916590C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs16986838|799|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.28916590C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=20510;gnomADv4_1_AC_joint_XX=10274;gnomADv4_1_AC_joint_XY=10236;gnomADv4_1_AF_grpmax_joint=0.427716;gnomADv4_1_AF_joint=0.134814;gnomADv4_1_AF_joint_XX=0.132111;gnomADv4_1_AF_joint_XY=0.13764;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1968;gnomADv4_1_nhomalt_joint_XX=929;gnomADv4_1_nhomalt_joint_XY=1039;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28917268 chr22_28917268_AACACAC_A;chr22_28917268_AACACACACAC_A AACACAC A 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=1.147;CADDIndel_Rawscore=0.017895;CSQ=-|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs10533572|115|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||ACACAC|ACACAC||1||chr22:g.28917299_28917304del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+33233_300+33238del|||||||rs10533572||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||ACACAC|ACACAC||1|30|chr22:g.28917299_28917304del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+33233_300+33238del|||||||rs10533572||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||ACACAC|ACACAC|||30|chr22:g.28917299_28917304del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs10533572|115|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||ACACAC|ACACAC||||chr22:g.28917299_28917304del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=23188;gnomADv4_1_AC_joint_XX=11801;gnomADv4_1_AC_joint_XY=11387;gnomADv4_1_AF_grpmax_joint=0.347183;gnomADv4_1_AF_joint=0.135427;gnomADv4_1_AF_joint_XX=0.134647;gnomADv4_1_AF_joint_XY=0.136244;gnomADv4_1_AN_grpmax_joint=5006;gnomADv4_1_AN_joint=171222;gnomADv4_1_AN_joint_XX=87644;gnomADv4_1_AN_joint_XY=83578;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2057;gnomADv4_1_nhomalt_joint_XX=1016;gnomADv4_1_nhomalt_joint_XY=1041;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28917268 chr22_28917268_AACACAC_A;chr22_28917268_AACACACACAC_A AACACACACAC A 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=1.121;CADDIndel_Rawscore=0.011866;CSQ=-|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs10533572|111|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||ACACACACAC|ACACACACAC||1||chr22:g.28917295_28917304del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+33229_300+33238del|||||||rs10533572||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||ACACACACAC|ACACACACAC||1|26|chr22:g.28917295_28917304del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+33229_300+33238del|||||||rs10533572||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||ACACACACAC|ACACACACAC|||26|chr22:g.28917295_28917304del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs10533572|111|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||ACACACACAC|ACACACACAC||||chr22:g.28917295_28917304del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=99596;gnomADv4_1_AC_joint_XX=51091;gnomADv4_1_AC_joint_XY=48505;gnomADv4_1_AF_grpmax_joint=0.675452;gnomADv4_1_AF_joint=0.581392;gnomADv4_1_AF_joint_XX=0.582685;gnomADv4_1_AF_joint_XY=0.580037;gnomADv4_1_AN_grpmax_joint=14950;gnomADv4_1_AN_joint=171306;gnomADv4_1_AN_joint_XX=87682;gnomADv4_1_AN_joint_XY=83624;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=29304;gnomADv4_1_nhomalt_joint_XX=15073;gnomADv4_1_nhomalt_joint_XY=14231;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28918537 chr22_28918537_CGTGTGTGTGTGTGT_C;chr22_28918537_CGTGTGT_C CGTGTGTGTGTGTGT C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=35;CADDIndel_PHREDscore=1.251;CADDIndel_Rawscore=0.04049;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+1087_-1+1100del|||||||rs56876101||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||GTGTGTGTGTGTGT|GTGTGTGTGTGTGT||1|30|chr22:g.28918568_28918581del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+34502_300+34515del|||||||rs56876101||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||GTGTGTGTGTGTGT|GTGTGTGTGTGTGT||1|30|chr22:g.28918568_28918581del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+34502_300+34515del|||||||rs56876101||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||GTGTGTGTGTGTGT|GTGTGTGTGTGTGT|||30|chr22:g.28918568_28918581del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+1087_-1+1100del|||||||rs56876101||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||GTGTGTGTGTGTGT|GTGTGTGTGTGTGT|||30|chr22:g.28918568_28918581del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TGW|enhancer||||||||||rs56876101|||||||||||||||||||||chr22:g.28918568_28918581del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4,ENSR22_C4TGW;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=19826;gnomADv4_1_AC_joint_XX=9916;gnomADv4_1_AC_joint_XY=9910;gnomADv4_1_AF_grpmax_joint=0.394078;gnomADv4_1_AF_joint=0.133356;gnomADv4_1_AF_joint_XX=0.130162;gnomADv4_1_AF_joint_XY=0.136712;gnomADv4_1_AN_grpmax_joint=5032;gnomADv4_1_AN_joint=148670;gnomADv4_1_AN_joint_XX=76182;gnomADv4_1_AN_joint_XY=72488;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1761;gnomADv4_1_nhomalt_joint_XX=849;gnomADv4_1_nhomalt_joint_XY=912;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28918537 chr22_28918537_CGTGTGTGTGTGTGT_C;chr22_28918537_CGTGTGT_C CGTGTGT C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=21;CADDIndel_PHREDscore=1.23;CADDIndel_Rawscore=0.036048;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+1095_-1+1100del|||||||rs56876101||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||GTGTGT|GTGTGT||1|38|chr22:g.28918576_28918581del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+34510_300+34515del|||||||rs56876101||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||GTGTGT|GTGTGT||1|38|chr22:g.28918576_28918581del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+34510_300+34515del|||||||rs56876101||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||GTGTGT|GTGTGT|||38|chr22:g.28918576_28918581del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+1095_-1+1100del|||||||rs56876101||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||GTGTGT|GTGTGT|||38|chr22:g.28918576_28918581del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TGW|enhancer||||||||||rs56876101|||||||||||||||||||||chr22:g.28918576_28918581del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4,ENSR22_C4TGW;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=73616;gnomADv4_1_AC_joint_XX=38010;gnomADv4_1_AC_joint_XY=35606;gnomADv4_1_AF_grpmax_joint=0.599446;gnomADv4_1_AF_joint=0.49517;gnomADv4_1_AF_joint_XX=0.498793;gnomADv4_1_AF_joint_XY=0.491361;gnomADv4_1_AN_grpmax_joint=67152;gnomADv4_1_AN_joint=148668;gnomADv4_1_AN_joint_XX=76204;gnomADv4_1_AN_joint_XY=72464;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=19562;gnomADv4_1_nhomalt_joint_XX=10169;gnomADv4_1_nhomalt_joint_XY=9393;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28918834 chr22_28918834_GC_G GC G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=11.48;CADDIndel_Rawscore=1.11159;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+1355del|||||||rs132545||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1|1|chr22:g.28918836del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+34770del|||||||rs132545||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1|1|chr22:g.28918836del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+34770del|||||||rs132545||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C|||1|chr22:g.28918836del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+1355del|||||||rs132545||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C|||1|chr22:g.28918836del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TGW|enhancer||||||||||rs132545|||||||||||||||||||||chr22:g.28918836del|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-14|1|30|-14;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4,ENSR22_C4TGW;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=90240;gnomADv4_1_AC_joint_XX=46204;gnomADv4_1_AC_joint_XY=44036;gnomADv4_1_AF_grpmax_joint=0.698269;gnomADv4_1_AF_joint=0.594138;gnomADv4_1_AF_joint_XX=0.59486;gnomADv4_1_AF_joint_XY=0.593381;gnomADv4_1_AN_grpmax_joint=67918;gnomADv4_1_AN_joint=151884;gnomADv4_1_AN_joint_XX=77672;gnomADv4_1_AN_joint_XY=74212;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=28413;gnomADv4_1_nhomalt_joint_XX=14566;gnomADv4_1_nhomalt_joint_XY=13847;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28918911 chr22_28918911_T_C T C 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=10.26;CADD_Rawscore=0.993419;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+1430T>C|||||||rs469992||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.28918911T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+34845T>C|||||||rs469992||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28918911T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+34845T>C|||||||rs469992||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28918911T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+1430T>C|||||||rs469992||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.28918911T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TGW|enhancer||||||||||rs469992|||||||||||||||||||||chr22:g.28918911T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-6|-2|1|-47;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4,ENSR22_C4TGW;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=90491;gnomADv4_1_AC_joint_XX=46324;gnomADv4_1_AC_joint_XY=44167;gnomADv4_1_AF_grpmax_joint=0.699043;gnomADv4_1_AF_joint=0.59521;gnomADv4_1_AF_joint_XX=0.596006;gnomADv4_1_AF_joint_XY=0.594377;gnomADv4_1_AN_grpmax_joint=67950;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=28535;gnomADv4_1_nhomalt_joint_XX=14621;gnomADv4_1_nhomalt_joint_XY=13914;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28919797 chr22_28919797_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.599;CADD_Rawscore=-0.147866;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+2316A>G|||||||rs132546||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28919797A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+35731A>G|||||||rs132546||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28919797A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+35731A>G|||||||rs132546||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28919797A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+2316A>G|||||||rs132546||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28919797A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-36|2|28|-7;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=120780;gnomADv4_1_AC_joint_XX=61525;gnomADv4_1_AC_joint_XY=59255;gnomADv4_1_AF_grpmax_joint=0.94638;gnomADv4_1_AF_joint=0.794762;gnomADv4_1_AF_joint_XX=0.791929;gnomADv4_1_AF_joint_XY=0.797725;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151970;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=50043;gnomADv4_1_nhomalt_joint_XX=25441;gnomADv4_1_nhomalt_joint_XY=24602;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28919846 chr22_28919846_A_G A G 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.883;CADD_Rawscore=0.148042;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+2365A>G|||||||rs132547||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28919846A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+35780A>G|||||||rs132547||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28919846A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+35780A>G|||||||rs132547||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28919846A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+2365A>G|||||||rs132547||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28919846A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-21|2|-21|4;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=126593;gnomADv4_1_AC_joint_XX=64473;gnomADv4_1_AC_joint_XY=62120;gnomADv4_1_AF_grpmax_joint=0.950019;gnomADv4_1_AF_joint=0.832039;gnomADv4_1_AF_joint_XX=0.829043;gnomADv4_1_AF_joint_XY=0.835171;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152148;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=53859;gnomADv4_1_nhomalt_joint_XX=27344;gnomADv4_1_nhomalt_joint_XY=26515;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28921571 chr22_28921571_C_G C G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=11.24;CADD_Rawscore=1.08538;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+4090C>G|||||||rs132548||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28921571C>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+37505C>G|||||||rs132548||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28921571C>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+37505C>G|||||||rs132548||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28921571C>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+4090C>G|||||||rs132548||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.28921571C>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-46|15|17|13;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=87189;gnomADv4_1_AC_joint_XX=44603;gnomADv4_1_AC_joint_XY=42586;gnomADv4_1_AF_grpmax_joint=0.692698;gnomADv4_1_AF_joint=0.573461;gnomADv4_1_AF_joint_XX=0.573864;gnomADv4_1_AF_joint_XY=0.573039;gnomADv4_1_AN_grpmax_joint=67982;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=27040;gnomADv4_1_nhomalt_joint_XX=13897;gnomADv4_1_nhomalt_joint_XY=13143;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28922736 chr22_28922736_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=16.19;CADD_Rawscore=1.87998;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+5255C>T|||||||rs132549||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28922736C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+38670C>T|||||||rs132549||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28922736C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+38670C>T|||||||rs132549||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28922736C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+5255C>T|||||||rs132549||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.28922736C>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|16|-8|-42|2;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=58706;gnomADv4_1_AC_joint_XX=30357;gnomADv4_1_AC_joint_XY=28349;gnomADv4_1_AF_grpmax_joint=0.543226;gnomADv4_1_AF_joint=0.38598;gnomADv4_1_AF_joint_XX=0.390333;gnomADv4_1_AF_joint_XY=0.381425;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14087;gnomADv4_1_nhomalt_joint_XX=7383;gnomADv4_1_nhomalt_joint_XY=6704;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28925020 chr22_28925020_A_G A G 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.422;CADD_Rawscore=-0.235583;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+7539A>G|||||||rs132550||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28925020A>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+40954A>G|||||||rs132550||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28925020A>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+40954A>G|||||||rs132550||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28925020A>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+7539A>G|||||||rs132550||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28925020A>G|||1||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-5|19|-1|2;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=129378;gnomADv4_1_AC_joint_XX=65921;gnomADv4_1_AC_joint_XY=63457;gnomADv4_1_AF_grpmax_joint=0.951158;gnomADv4_1_AF_joint=0.849997;gnomADv4_1_AF_joint_XX=0.847575;gnomADv4_1_AF_joint_XY=0.852527;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152210;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=55738;gnomADv4_1_nhomalt_joint_XX=28344;gnomADv4_1_nhomalt_joint_XY=27394;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28925672 chr22_28925672_T_C T C 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=3.903;CADD_Rawscore=0.356648;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+8191T>C|||||||rs132551||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.28925672T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+41606T>C|||||||rs132551||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28925672T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+41606T>C|||||||rs132551||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28925672T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+8191T>C|||||||rs132551||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.28925672T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-3|47|-5|46;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=126039;gnomADv4_1_AC_joint_XX=64137;gnomADv4_1_AC_joint_XY=61902;gnomADv4_1_AF_grpmax_joint=0.951158;gnomADv4_1_AF_joint=0.828419;gnomADv4_1_AF_joint_XX=0.824956;gnomADv4_1_AF_joint_XY=0.832038;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=53514;gnomADv4_1_nhomalt_joint_XX=27127;gnomADv4_1_nhomalt_joint_XY=26387;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28928490 chr22_28928490_CT_C CT C 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=18;CADDIndel_PHREDscore=1.63;CADDIndel_Rawscore=0.109925;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+11032del|||||||rs10710766||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1|22|chr22:g.28928513del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+44447del|||||||rs10710766||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1|22|chr22:g.28928513del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+44447del|||||||rs10710766||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T|||22|chr22:g.28928513del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+11032del|||||||rs10710766||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T|||22|chr22:g.28928513del|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-6|31|-34|26;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=36170;gnomADv4_1_AC_joint_XX=19605;gnomADv4_1_AC_joint_XY=16565;gnomADv4_1_AF_grpmax_joint=0.529947;gnomADv4_1_AF_joint=0.449283;gnomADv4_1_AF_joint_XX=0.449059;gnomADv4_1_AF_joint_XY=0.44955;gnomADv4_1_AN_grpmax_joint=39202;gnomADv4_1_AN_joint=80506;gnomADv4_1_AN_joint_XX=43658;gnomADv4_1_AN_joint_XY=36848;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5560;gnomADv4_1_nhomalt_joint_XX=2907;gnomADv4_1_nhomalt_joint_XY=2653;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28928704 chr22_28928704_G_A G A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=3.054;CADD_Rawscore=0.279655;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+11223G>A|||||||rs132553||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.28928704G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+44638G>A|||||||rs132553||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28928704G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+44638G>A|||||||rs132553||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28928704G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+11223G>A|||||||rs132553||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.28928704G>A|||||||||||||;SpliceAI=A|ZNRF3|0.03|0.00|0.00|0.00|-24|1|-24|-5;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=47108;gnomADv4_1_AC_joint_XX=24629;gnomADv4_1_AC_joint_XY=22479;gnomADv4_1_AF_grpmax_joint=0.460023;gnomADv4_1_AF_joint=0.311413;gnomADv4_1_AF_joint_XX=0.318163;gnomADv4_1_AF_joint_XY=0.304338;gnomADv4_1_AN_grpmax_joint=67714;gnomADv4_1_AN_joint=151272;gnomADv4_1_AN_joint_XX=77410;gnomADv4_1_AN_joint_XY=73862;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9535;gnomADv4_1_nhomalt_joint_XX=5093;gnomADv4_1_nhomalt_joint_XY=4442;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28929935 chr22_28929935_G_A G A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.008;CADD_Rawscore=-0.015749;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+12454G>A|||||||rs132554||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.28929935G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+45869G>A|||||||rs132554||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28929935G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+45869G>A|||||||rs132554||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28929935G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+12454G>A|||||||rs132554||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.28929935G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|20|-12|1|-6;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=128708;gnomADv4_1_AC_joint_XX=65605;gnomADv4_1_AC_joint_XY=63103;gnomADv4_1_AF_grpmax_joint=0.951464;gnomADv4_1_AF_joint=0.845639;gnomADv4_1_AF_joint_XX=0.843425;gnomADv4_1_AF_joint_XY=0.847953;gnomADv4_1_AN_grpmax_joint=5192;gnomADv4_1_AN_joint=152202;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=55282;gnomADv4_1_nhomalt_joint_XX=28136;gnomADv4_1_nhomalt_joint_XY=27146;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28931359 chr22_28931359_A_G A G 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.176;CADD_Rawscore=-0.461128;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+13878A>G|||||||rs71327329||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28931359A>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+47293A>G|||||||rs71327329||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28931359A>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+47293A>G|||||||rs71327329||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28931359A>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+13878A>G|||||||rs71327329||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28931359A>G|||1||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-34|37|9|40;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=14976;gnomADv4_1_AC_joint_XX=7664;gnomADv4_1_AC_joint_XY=7312;gnomADv4_1_AF_grpmax_joint=0.191238;gnomADv4_1_AF_joint=0.0984382;gnomADv4_1_AF_joint_XX=0.0985571;gnomADv4_1_AF_joint_XY=0.0983139;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=957;gnomADv4_1_nhomalt_joint_XX=490;gnomADv4_1_nhomalt_joint_XY=467;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28933723 chr22_28933723_A_C A C 11 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=11;CADD_PHREDscore=0.368;CADD_Rawscore=-0.270241;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+16242A>C|||||||rs984746604||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28933723A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+49657A>C|||||||rs984746604||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28933723A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+49657A>C|||||||rs984746604||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28933723A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+16242A>C|||||||rs984746604||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28933723A>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|31|27|-33|-1;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=6281;gnomADv4_1_AC_joint_XX=3554;gnomADv4_1_AC_joint_XY=2727;gnomADv4_1_AF_grpmax_joint=0.454545;gnomADv4_1_AF_joint=0.383362;gnomADv4_1_AF_joint_XX=0.390721;gnomADv4_1_AF_joint_XY=0.374177;gnomADv4_1_AN_grpmax_joint=22;gnomADv4_1_AN_joint=16384;gnomADv4_1_AN_joint_XX=9096;gnomADv4_1_AN_joint_XY=7288;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=5;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28933732 chr22_28933732_A_C A C 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADD_PHREDscore=1.377;CADD_Rawscore=0.065646;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+16251A>C|||||||rs1033584853||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28933732A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+49666A>C|||||||rs1033584853||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28933732A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+49666A>C|||||||rs1033584853||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28933732A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+16251A>C|||||||rs1033584853||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28933732A>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|47|16|-42|-1;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=5709;gnomADv4_1_AC_joint_XX=3249;gnomADv4_1_AC_joint_XY=2460;gnomADv4_1_AF_grpmax_joint=0.482951;gnomADv4_1_AF_joint=0.453455;gnomADv4_1_AF_joint_XX=0.45838;gnomADv4_1_AF_joint_XY=0.44711;gnomADv4_1_AN_grpmax_joint=7156;gnomADv4_1_AN_joint=12590;gnomADv4_1_AN_joint_XX=7088;gnomADv4_1_AN_joint_XY=5502;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=63;gnomADv4_1_nhomalt_joint_XX=40;gnomADv4_1_nhomalt_joint_XY=23;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28933734 chr22_28933734_A_C A C 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=14;CADD_PHREDscore=4.171;CADD_Rawscore=0.380399;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+16253A>C|||||||rs1386107601||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28933734A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+49668A>C|||||||rs1386107601||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28933734A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+49668A>C|||||||rs1386107601||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28933734A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+16253A>C|||||||rs1386107601||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28933734A>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|15|16|-44|-3;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=3082;gnomADv4_1_AC_joint_XX=1716;gnomADv4_1_AC_joint_XY=1366;gnomADv4_1_AF_grpmax_joint=0.375;gnomADv4_1_AF_joint=0.223139;gnomADv4_1_AF_joint_XX=0.231018;gnomADv4_1_AF_joint_XY=0.213972;gnomADv4_1_AN_grpmax_joint=16;gnomADv4_1_AN_joint=13812;gnomADv4_1_AN_joint_XX=7428;gnomADv4_1_AN_joint_XY=6384;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25;gnomADv4_1_nhomalt_joint_XX=13;gnomADv4_1_nhomalt_joint_XY=12;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28933736 chr22_28933736_A_C A C 10 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=10;CADD_PHREDscore=2.462;CADD_Rawscore=0.219579;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+16255A>C|||||||rs1199105938||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28933736A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+49670A>C|||||||rs1199105938||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28933736A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+49670A>C|||||||rs1199105938||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28933736A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+16255A>C|||||||rs1199105938||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28933736A>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|10|14|-46|-1;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=1758;gnomADv4_1_AC_joint_XX=944;gnomADv4_1_AC_joint_XY=814;gnomADv4_1_AF_grpmax_joint=0.2;gnomADv4_1_AF_joint=0.0805683;gnomADv4_1_AF_joint_XX=0.0806424;gnomADv4_1_AF_joint_XY=0.0804825;gnomADv4_1_AN_grpmax_joint=360;gnomADv4_1_AN_joint=21820;gnomADv4_1_AN_joint_XX=11706;gnomADv4_1_AN_joint_XY=10114;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=38;gnomADv4_1_nhomalt_joint_XX=19;gnomADv4_1_nhomalt_joint_XY=19;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28933752 chr22_28933752_A_ACT A ACT 13 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=13;CADDIndel_PHREDscore=0.577;CADDIndel_Rawscore=-0.157265;CSQ=CT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+16297_-1+16298dup|||||||rs372627987||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|27|chr22:g.28933778_28933779dup|||||||||||||,CT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.300+49712_300+49713dup|||||||rs372627987||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|27|chr22:g.28933778_28933779dup|||||||||||||,CT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.300+49712_300+49713dup|||||||rs372627987||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||27|chr22:g.28933778_28933779dup|||||||||||||,CT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+16297_-1+16298dup|||||||rs372627987||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||27|chr22:g.28933778_28933779dup|||||||||||||;TYPE=INDEL;VEP_Allele=CT,CT,CT,CT;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=22492;gnomADv4_1_AC_joint_XX=12837;gnomADv4_1_AC_joint_XY=9655;gnomADv4_1_AF_grpmax_joint=0.633267;gnomADv4_1_AF_joint=0.553336;gnomADv4_1_AF_joint_XX=0.557694;gnomADv4_1_AF_joint_XY=0.547646;gnomADv4_1_AN_grpmax_joint=2994;gnomADv4_1_AN_joint=40648;gnomADv4_1_AN_joint_XX=23018;gnomADv4_1_AN_joint_XY=17630;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=6435;gnomADv4_1_nhomalt_joint_XX=3714;gnomADv4_1_nhomalt_joint_XY=2721;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28937195 chr22_28937197_ATATATATATATATATATATTTTTTTTTTT_A;chr22_28937195_ATATATATATATATATATATATTTTTTTTTT_A;chr22_28937195_ATATATATATATATATATATATTTTTTTTTTT_A ATATATATATATATATATATATTTTTTTTTT A 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=22;CADDIndel_PHREDscore=0.379;CADDIndel_Rawscore=-0.262643;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+19716_-1+19745del|||||||rs200378614||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||TATATATATATATATATATATTTTTTTTTT|TATATATATATATATATATATTTTTTTTTT||1|1|chr22:g.28937197_28937226del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-49879_301-49850del|||||||rs200378614||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||TATATATATATATATATATATTTTTTTTTT|TATATATATATATATATATATTTTTTTTTT||1|1|chr22:g.28937197_28937226del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-49879_301-49850del|||||||rs200378614||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||TATATATATATATATATATATTTTTTTTTT|TATATATATATATATATATATTTTTTTTTT|||1|chr22:g.28937197_28937226del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+19716_-1+19745del|||||||rs200378614||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||TATATATATATATATATATATTTTTTTTTT|TATATATATATATATATATATTTTTTTTTT|||1|chr22:g.28937197_28937226del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=46760;gnomADv4_1_AC_joint_XX=24737;gnomADv4_1_AC_joint_XY=22023;gnomADv4_1_AF_grpmax_joint=0.586395;gnomADv4_1_AF_joint=0.513677;gnomADv4_1_AF_joint_XX=0.523357;gnomADv4_1_AF_joint_XY=0.503222;gnomADv4_1_AN_grpmax_joint=50848;gnomADv4_1_AN_joint=91030;gnomADv4_1_AN_joint_XX=47266;gnomADv4_1_AN_joint_XY=43764;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9911;gnomADv4_1_nhomalt_joint_XX=5340;gnomADv4_1_nhomalt_joint_XY=4571;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28937195 chr22_28937197_ATATATATATATATATATATTTTTTTTTTT_A;chr22_28937195_ATATATATATATATATATATATTTTTTTTTT_A;chr22_28937195_ATATATATATATATATATATATTTTTTTTTTT_A ATATATATATATATATATATATTTTTTTTTTT A 37 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=15;CADDIndel_PHREDscore=0.374;CADDIndel_Rawscore=-0.266117;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+19716_-1+19746del|||||||rs1346625603||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||TATATATATATATATATATATTTTTTTTTTT|TATATATATATATATATATATTTTTTTTTTT||1|1|chr22:g.28937197_28937227del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-49879_301-49849del|||||||rs1346625603||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||TATATATATATATATATATATTTTTTTTTTT|TATATATATATATATATATATTTTTTTTTTT||1|1|chr22:g.28937197_28937227del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-49879_301-49849del|||||||rs1346625603||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||TATATATATATATATATATATTTTTTTTTTT|TATATATATATATATATATATTTTTTTTTTT|||1|chr22:g.28937197_28937227del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+19716_-1+19746del|||||||rs1346625603||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||TATATATATATATATATATATTTTTTTTTTT|TATATATATATATATATATATTTTTTTTTTT|||1|chr22:g.28937197_28937227del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=6578;gnomADv4_1_AC_joint_XX=3202;gnomADv4_1_AC_joint_XY=3376;gnomADv4_1_AF_grpmax_joint=0.227186;gnomADv4_1_AF_joint=0.0722064;gnomADv4_1_AF_joint_XX=0.0677127;gnomADv4_1_AF_joint_XY=0.0770565;gnomADv4_1_AN_grpmax_joint=3156;gnomADv4_1_AN_joint=91100;gnomADv4_1_AN_joint_XX=47288;gnomADv4_1_AN_joint_XY=43812;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=498;gnomADv4_1_nhomalt_joint_XX=213;gnomADv4_1_nhomalt_joint_XY=285;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28937197 chr22_28937197_ATATATATATATATATATATTTTTTTTTTT_A;chr22_28937195_ATATATATATATATATATATATTTTTTTTTT_A;chr22_28937195_ATATATATATATATATATATATTTTTTTTTTT_A ATATATATATATATATATATTTTTTTTTTT A 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=37;CADDIndel_PHREDscore=0.388;CADDIndel_Rawscore=-0.256876;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+19718_-1+19746del|||||||rs72390332||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||TATATATATATATATATATTTTTTTTTTT|TATATATATATATATATATTTTTTTTTTT||1|1|chr22:g.28937199_28937227del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-49877_301-49849del|||||||rs72390332||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||TATATATATATATATATATTTTTTTTTTT|TATATATATATATATATATTTTTTTTTTT||1|1|chr22:g.28937199_28937227del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-49877_301-49849del|||||||rs72390332||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||TATATATATATATATATATTTTTTTTTTT|TATATATATATATATATATTTTTTTTTTT|||1|chr22:g.28937199_28937227del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+19718_-1+19746del|||||||rs72390332||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||TATATATATATATATATATTTTTTTTTTT|TATATATATATATATATATTTTTTTTTTT|||1|chr22:g.28937199_28937227del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=13196;gnomADv4_1_AC_joint_XX=6880;gnomADv4_1_AC_joint_XY=6316;gnomADv4_1_AF_grpmax_joint=0.363296;gnomADv4_1_AF_joint=0.281029;gnomADv4_1_AF_joint_XX=0.282013;gnomADv4_1_AF_joint_XY=0.279965;gnomADv4_1_AN_grpmax_joint=1602;gnomADv4_1_AN_joint=46956;gnomADv4_1_AN_joint_XX=24396;gnomADv4_1_AN_joint_XY=22560;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=991;gnomADv4_1_nhomalt_joint_XX=512;gnomADv4_1_nhomalt_joint_XY=479;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28938612 chr22_28938612_C_T C T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=4.159;CADD_Rawscore=0.37939;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+21131C>T|||||||rs132556||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28938612C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-48464C>T|||||||rs132556||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28938612C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-48464C>T|||||||rs132556||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28938612C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+21131C>T|||||||rs132556||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.28938612C>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|16|-22|5|-4;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=127036;gnomADv4_1_AC_joint_XX=64682;gnomADv4_1_AC_joint_XY=62354;gnomADv4_1_AF_grpmax_joint=0.95137;gnomADv4_1_AF_joint=0.835005;gnomADv4_1_AF_joint_XX=0.83203;gnomADv4_1_AF_joint_XY=0.838114;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=54149;gnomADv4_1_nhomalt_joint_XX=27492;gnomADv4_1_nhomalt_joint_XY=26657;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28939283 chr22_28939283_C_CA C CA 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADDIndel_PHREDscore=0.75;CADDIndel_Rawscore=-0.091608;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+21818dup|||||||rs132557||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|16|chr22:g.28939299dup|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-47777dup|||||||rs132557||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|16|chr22:g.28939299dup|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-47777dup|||||||rs132557||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||16|chr22:g.28939299dup|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+21818dup|||||||rs132557||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||16|chr22:g.28939299dup|||||||||||||;SpliceAI=CA|ZNRF3|0.00|0.00|0.00|0.00|2|-15|-10|-15;TYPE=INDEL;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=103267;gnomADv4_1_AC_joint_XX=54146;gnomADv4_1_AC_joint_XY=49121;gnomADv4_1_AF_grpmax_joint=0.923575;gnomADv4_1_AF_joint=0.804035;gnomADv4_1_AF_joint_XX=0.801569;gnomADv4_1_AF_joint_XY=0.80677;gnomADv4_1_AN_grpmax_joint=4632;gnomADv4_1_AN_joint=128436;gnomADv4_1_AN_joint_XX=67550;gnomADv4_1_AN_joint_XY=60886;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41690;gnomADv4_1_nhomalt_joint_XX=21834;gnomADv4_1_nhomalt_joint_XY=19856;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 28939510 chr22_28939510_G_C G C 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.214;CADD_Rawscore=0.384268;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+22029G>C|||||||rs132558||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.28939510G>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-47566G>C|||||||rs132558||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28939510G>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-47566G>C|||||||rs132558||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28939510G>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+22029G>C|||||||rs132558||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.28939510G>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|27|-36|-12|10;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=151328;gnomADv4_1_AC_joint_XX=77325;gnomADv4_1_AC_joint_XY=74003;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.993814;gnomADv4_1_AF_joint_XX=0.993741;gnomADv4_1_AF_joint_XY=0.993889;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152270;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74458;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=75197;gnomADv4_1_nhomalt_joint_XX=38420;gnomADv4_1_nhomalt_joint_XY=36777;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28940496 chr22_28940496_C_CT C CT 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=30;CADDIndel_PHREDscore=0.635;CADDIndel_Rawscore=-0.133417;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+23032dup|||||||rs575819283||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|17|chr22:g.28940513dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-46563dup|||||||rs575819283||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|17|chr22:g.28940513dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-46563dup|||||||rs575819283||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||17|chr22:g.28940513dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+23032dup|||||||rs575819283||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||17|chr22:g.28940513dup|||||||||||||;SpliceAI=CT|ZNRF3|0.00|0.00|0.00|0.00|30|27|18|-8;TYPE=INDEL;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=83117;gnomADv4_1_AC_joint_XX=43293;gnomADv4_1_AC_joint_XY=39824;gnomADv4_1_AF_grpmax_joint=0.73746;gnomADv4_1_AF_joint=0.601643;gnomADv4_1_AF_joint_XX=0.600791;gnomADv4_1_AF_joint_XY=0.602572;gnomADv4_1_AN_grpmax_joint=13796;gnomADv4_1_AN_joint=138150;gnomADv4_1_AN_joint_XX=72060;gnomADv4_1_AN_joint_XY=66090;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=26300;gnomADv4_1_nhomalt_joint_XX=13705;gnomADv4_1_nhomalt_joint_XY=12595;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28942668 chr22_28942668_G_C G C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=6.087;CADD_Rawscore=0.561996;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+25187G>C|||||||rs28360615||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.28942668G>C|||1||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-44408G>C|||||||rs28360615||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28942668G>C|||1||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-44408G>C|||||||rs28360615||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28942668G>C|||1||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+25187G>C|||||||rs28360615||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.28942668G>C|||1||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-24|-5|30|-5;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=21101;gnomADv4_1_AC_joint_XX=10578;gnomADv4_1_AC_joint_XY=10523;gnomADv4_1_AF_grpmax_joint=0.424043;gnomADv4_1_AF_joint=0.138647;gnomADv4_1_AF_joint_XX=0.135988;gnomADv4_1_AF_joint_XY=0.141427;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152192;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2066;gnomADv4_1_nhomalt_joint_XX=981;gnomADv4_1_nhomalt_joint_XY=1085;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28944754 chr22_28944754_CA_C CA C 47 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.624;CADDIndel_Rawscore=-0.137657;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+27292del|||||||rs35578297||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1|18|chr22:g.28944773del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-42303del|||||||rs35578297||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1|18|chr22:g.28944773del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-42303del|||||||rs35578297||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A|||18|chr22:g.28944773del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+27292del|||||||rs35578297||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A|||18|chr22:g.28944773del|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|21|26|30|-23;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=65660;gnomADv4_1_AC_joint_XX=35421;gnomADv4_1_AC_joint_XY=30239;gnomADv4_1_AF_grpmax_joint=0.898936;gnomADv4_1_AF_joint=0.744428;gnomADv4_1_AF_joint_XX=0.743608;gnomADv4_1_AF_joint_XY=0.74539;gnomADv4_1_AN_grpmax_joint=188;gnomADv4_1_AN_joint=88202;gnomADv4_1_AN_joint_XX=47634;gnomADv4_1_AN_joint_XY=40568;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=23626;gnomADv4_1_nhomalt_joint_XX=12715;gnomADv4_1_nhomalt_joint_XY=10911;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 28944926 chr22_28944926_CAAAT_C CAAAT C 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.533;CADDIndel_Rawscore=-0.177202;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+27480_-1+27483del|||||||rs71316875||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||AAAT|AAAT||1|34|chr22:g.28944961_28944964del|||1||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-42115_301-42112del|||||||rs71316875||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||AAAT|AAAT||1|34|chr22:g.28944961_28944964del|||1||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-42115_301-42112del|||||||rs71316875||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||AAAT|AAAT|||34|chr22:g.28944961_28944964del|||1||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+27480_-1+27483del|||||||rs71316875||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||AAAT|AAAT|||34|chr22:g.28944961_28944964del|||1||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-16|3|14|2;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=82583;gnomADv4_1_AC_joint_XX=42695;gnomADv4_1_AC_joint_XY=39888;gnomADv4_1_AF_grpmax_joint=0.68967;gnomADv4_1_AF_joint=0.576013;gnomADv4_1_AF_joint_XX=0.578225;gnomADv4_1_AF_joint_XY=0.573664;gnomADv4_1_AN_grpmax_joint=14346;gnomADv4_1_AN_joint=143370;gnomADv4_1_AN_joint_XX=73838;gnomADv4_1_AN_joint_XY=69532;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=25220;gnomADv4_1_nhomalt_joint_XX=13113;gnomADv4_1_nhomalt_joint_XY=12107;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28944941 chr22_28944941_A_C A C 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.268;CADD_Rawscore=-0.35092;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+27460A>C|||||||rs71327330||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28944941A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-42135A>C|||||||rs71327330||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28944941A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-42135A>C|||||||rs71327330||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28944941A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+27460A>C|||||||rs71327330||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28944941A>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|39|37|-9|-5;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=15964;gnomADv4_1_AC_joint_XX=7815;gnomADv4_1_AC_joint_XY=8149;gnomADv4_1_AF_grpmax_joint=0.196976;gnomADv4_1_AF_joint=0.107383;gnomADv4_1_AF_joint_XX=0.102538;gnomADv4_1_AF_joint_XY=0.112481;gnomADv4_1_AN_grpmax_joint=4630;gnomADv4_1_AN_joint=148664;gnomADv4_1_AN_joint_XX=76216;gnomADv4_1_AN_joint_XY=72448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1124;gnomADv4_1_nhomalt_joint_XX=522;gnomADv4_1_nhomalt_joint_XY=602;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28947200 chr22_28947200_G_C G C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.831;CADD_Rawscore=-0.065471;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+29719G>C|||||||rs16986861||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.28947200G>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-39876G>C|||||||rs16986861||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28947200G>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-39876G>C|||||||rs16986861||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28947200G>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+29719G>C|||||||rs16986861||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.28947200G>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-38|1|-38|49;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=20909;gnomADv4_1_AC_joint_XX=10467;gnomADv4_1_AC_joint_XY=10442;gnomADv4_1_AF_grpmax_joint=0.425524;gnomADv4_1_AF_joint=0.137706;gnomADv4_1_AF_joint_XX=0.134929;gnomADv4_1_AF_joint_XY=0.140606;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151838;gnomADv4_1_AN_joint_XX=77574;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2074;gnomADv4_1_nhomalt_joint_XX=986;gnomADv4_1_nhomalt_joint_XY=1088;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28947853 chr22_28947853_C_CT C CT 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.451;CADDIndel_Rawscore=-0.219176;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+30382dup|||||||rs34154639||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|10|chr22:g.28947863dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-39213dup|||||||rs34154639||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|10|chr22:g.28947863dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-39213dup|||||||rs34154639||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||10|chr22:g.28947863dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+30382dup|||||||rs34154639||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||10|chr22:g.28947863dup|||||||||||||;SpliceAI=CT|ZNRF3|0.00|0.00|0.00|0.00|14|37|37|36;TYPE=INDEL;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=21203;gnomADv4_1_AC_joint_XX=10653;gnomADv4_1_AC_joint_XY=10550;gnomADv4_1_AF_grpmax_joint=0.423392;gnomADv4_1_AF_joint=0.140775;gnomADv4_1_AF_joint_XX=0.138207;gnomADv4_1_AF_joint_XY=0.143467;gnomADv4_1_AN_grpmax_joint=5130;gnomADv4_1_AN_joint=150616;gnomADv4_1_AN_joint_XX=77080;gnomADv4_1_AN_joint_XY=73536;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2059;gnomADv4_1_nhomalt_joint_XX=981;gnomADv4_1_nhomalt_joint_XY=1078;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28949961 chr22_28949961_A_AT A AT 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=1.528;CADDIndel_Rawscore=0.092969;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+32490dup|||||||rs132560||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|10|chr22:g.28949971dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-37105dup|||||||rs132560||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|10|chr22:g.28949971dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-37105dup|||||||rs132560||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||10|chr22:g.28949971dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+32490dup|||||||rs132560||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||10|chr22:g.28949971dup|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FH8P|enhancer||||||||||rs132560|||||||||||||||||||||chr22:g.28949971dup|||||||||||||;SpliceAI=AT|ZNRF3|0.00|0.00|0.00|0.00|23|22|13|-50;TYPE=INDEL;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4,ENSR22_9FH8P;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=126931;gnomADv4_1_AC_joint_XX=64766;gnomADv4_1_AC_joint_XY=62165;gnomADv4_1_AF_grpmax_joint=0.950233;gnomADv4_1_AF_joint=0.842533;gnomADv4_1_AF_joint_XX=0.839982;gnomADv4_1_AF_joint_XY=0.845207;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=150654;gnomADv4_1_AN_joint_XX=77104;gnomADv4_1_AN_joint_XY=73550;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=55413;gnomADv4_1_nhomalt_joint_XX=28199;gnomADv4_1_nhomalt_joint_XY=27214;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28951227 chr22_28951227_G_T G T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=4.237;CADD_Rawscore=0.386307;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+33746G>T|||||||rs34578331||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.28951227G>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-35849G>T|||||||rs34578331||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28951227G>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-35849G>T|||||||rs34578331||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28951227G>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+33746G>T|||||||rs34578331||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.28951227G>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|40|-34|-9|-34;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=20706;gnomADv4_1_AC_joint_XX=10389;gnomADv4_1_AC_joint_XY=10317;gnomADv4_1_AF_grpmax_joint=0.422868;gnomADv4_1_AF_joint=0.136116;gnomADv4_1_AF_joint_XX=0.133576;gnomADv4_1_AF_joint_XY=0.138774;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2016;gnomADv4_1_nhomalt_joint_XX=964;gnomADv4_1_nhomalt_joint_XY=1052;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28951556 chr22_28951556_G_A G A 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.501;CADD_Rawscore=-0.192745;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.-1+34075G>A|||||||rs561268319||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.28951556G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-35520G>A|||||||rs561268319||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28951556G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-35520G>A|||||||rs561268319||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28951556G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.-1+34075G>A|||||||rs561268319||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.28951556G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|-48|-36|-48|31;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=199;gnomADv4_1_AC_joint_XX=114;gnomADv4_1_AC_joint_XY=85;gnomADv4_1_AF_grpmax_joint=0.00235246;gnomADv4_1_AF_joint=0.00130701;gnomADv4_1_AF_joint_XX=0.00146522;gnomADv4_1_AF_joint_XY=0.00114168;gnomADv4_1_AN_grpmax_joint=68014;gnomADv4_1_AN_joint=152256;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28952495 chr22_28952495_G_GT;chr22_28952495_G_GTT G GT 46 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=2.506;CADDIndel_Rawscore=0.224352;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-34565dup|||||||rs11401088||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|16|chr22:g.28952511dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-34565dup|||||||rs11401088||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|16|chr22:g.28952511dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-34565dup|||||||rs11401088||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||16|chr22:g.28952511dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-34565dup|||||||rs11401088||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||16|chr22:g.28952511dup|||||||||||||;SpliceAI=GT|ZNRF3|0.00|0.00|0.00|0.00|48|-24|-3|38;TYPE=INDEL;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=114926;gnomADv4_1_AC_joint_XX=59470;gnomADv4_1_AC_joint_XY=55456;gnomADv4_1_AF_grpmax_joint=0.937881;gnomADv4_1_AF_joint=0.810205;gnomADv4_1_AF_joint_XX=0.80916;gnomADv4_1_AF_joint_XY=0.81133;gnomADv4_1_AN_grpmax_joint=4926;gnomADv4_1_AN_joint=141848;gnomADv4_1_AN_joint_XX=73496;gnomADv4_1_AN_joint_XY=68352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=47886;gnomADv4_1_nhomalt_joint_XX=24810;gnomADv4_1_nhomalt_joint_XY=23076;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 28952495 chr22_28952495_G_GT;chr22_28952495_G_GTT G GTT 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADDIndel_PHREDscore=2.533;CADDIndel_Rawscore=0.227311;CSQ=TT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-34566_1-34565dup|||||||rs11401088||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|16|chr22:g.28952510_28952511dup|||||||||||||,TT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-34566_301-34565dup|||||||rs11401088||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|16|chr22:g.28952510_28952511dup|||||||||||||,TT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-34566_301-34565dup|||||||rs11401088||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||16|chr22:g.28952510_28952511dup|||||||||||||,TT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-34566_1-34565dup|||||||rs11401088||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||16|chr22:g.28952510_28952511dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=3572;gnomADv4_1_AC_joint_XX=1786;gnomADv4_1_AC_joint_XY=1786;gnomADv4_1_AF_grpmax_joint=0.0531584;gnomADv4_1_AF_joint=0.0251897;gnomADv4_1_AF_joint_XX=0.0243066;gnomADv4_1_AF_joint_XY=0.0261394;gnomADv4_1_AN_grpmax_joint=4496;gnomADv4_1_AN_joint=141804;gnomADv4_1_AN_joint_XX=73478;gnomADv4_1_AN_joint_XY=68326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=63;gnomADv4_1_nhomalt_joint_XX=30;gnomADv4_1_nhomalt_joint_XY=33;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28953318 chr22_28953318_C_T C T 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=4.149;CADD_Rawscore=0.378447;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-33758C>T|||||||rs13056243||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28953318C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-33758C>T|||||||rs13056243||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28953318C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-33758C>T|||||||rs13056243||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28953318C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-33758C>T|||||||rs13056243||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.28953318C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FH9L|enhancer||||||||||rs13056243|||||||||||||||||||||chr22:g.28953318C>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|13|-22|-2|12;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4,ENSR22_9FH9L;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=20828;gnomADv4_1_AC_joint_XX=10439;gnomADv4_1_AC_joint_XY=10389;gnomADv4_1_AF_grpmax_joint=0.427853;gnomADv4_1_AF_joint=0.13683;gnomADv4_1_AF_joint_XX=0.13416;gnomADv4_1_AF_joint_XY=0.139622;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152218;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2045;gnomADv4_1_nhomalt_joint_XX=979;gnomADv4_1_nhomalt_joint_XY=1066;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28954923 chr22_28954923_G_T G T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.11;CADD_Rawscore=0.178187;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-32153G>T|||||||rs16986864||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.28954923G>T|||1||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-32153G>T|||||||rs16986864||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28954923G>T|||1||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-32153G>T|||||||rs16986864||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28954923G>T|||1||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-32153G>T|||||||rs16986864||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.28954923G>T|||1||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|-44|13|-2|-29;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=21285;gnomADv4_1_AC_joint_XX=10675;gnomADv4_1_AC_joint_XY=10610;gnomADv4_1_AF_grpmax_joint=0.42691;gnomADv4_1_AF_joint=0.140014;gnomADv4_1_AF_joint_XX=0.13732;gnomADv4_1_AF_joint_XY=0.142834;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2080;gnomADv4_1_nhomalt_joint_XX=990;gnomADv4_1_nhomalt_joint_XY=1090;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28955032 chr22_28955032_G_GT G GT 28 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=28;CADDIndel_PHREDscore=0.672;CADDIndel_Rawscore=-0.119124;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-32031dup|||||||rs372334361||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|13|chr22:g.28955045dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-32031dup|||||||rs372334361||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|13|chr22:g.28955045dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-32031dup|||||||rs372334361||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||13|chr22:g.28955045dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-32031dup|||||||rs372334361||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||13|chr22:g.28955045dup|||||||||||||;SpliceAI=GT|ZNRF3|0.00|0.00|0.00|0.00|34|30|-12|-27;TYPE=INDEL;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=77192;gnomADv4_1_AC_joint_XX=40803;gnomADv4_1_AC_joint_XY=36389;gnomADv4_1_AF_grpmax_joint=0.679829;gnomADv4_1_AF_joint=0.563478;gnomADv4_1_AF_joint_XX=0.568873;gnomADv4_1_AF_joint_XY=0.557549;gnomADv4_1_AN_grpmax_joint=65084;gnomADv4_1_AN_joint=136992;gnomADv4_1_AN_joint_XX=71726;gnomADv4_1_AN_joint_XY=65266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=22872;gnomADv4_1_nhomalt_joint_XX=12203;gnomADv4_1_nhomalt_joint_XY=10669;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28955191 chr22_28955191_C_T C T 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=2.936;CADD_Rawscore=0.268306;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-31885C>T|||||||rs132561||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28955191C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-31885C>T|||||||rs132561||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28955191C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-31885C>T|||||||rs132561||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28955191C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-31885C>T|||||||rs132561||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.28955191C>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|37|34|-8|49;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=87993;gnomADv4_1_AC_joint_XX=45047;gnomADv4_1_AC_joint_XY=42946;gnomADv4_1_AF_grpmax_joint=0.697329;gnomADv4_1_AF_joint=0.582234;gnomADv4_1_AF_joint_XX=0.582394;gnomADv4_1_AF_joint_XY=0.582066;gnomADv4_1_AN_grpmax_joint=67770;gnomADv4_1_AN_joint=151130;gnomADv4_1_AN_joint_XX=77348;gnomADv4_1_AN_joint_XY=73782;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=27479;gnomADv4_1_nhomalt_joint_XX=14132;gnomADv4_1_nhomalt_joint_XY=13347;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28956507 chr22_28956507_A_C A C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=10.73;CADD_Rawscore=1.03507;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-30569A>C|||||||rs4055||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28956507A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-30569A>C|||||||rs4055||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28956507A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-30569A>C|||||||rs4055||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28956507A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-30569A>C|||||||rs4055||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28956507A>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|7|27|-41|27;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=20963;gnomADv4_1_AC_joint_XX=10498;gnomADv4_1_AC_joint_XY=10465;gnomADv4_1_AF_grpmax_joint=0.430436;gnomADv4_1_AF_joint=0.138184;gnomADv4_1_AF_joint_XX=0.135339;gnomADv4_1_AF_joint_XY=0.141159;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=151704;gnomADv4_1_AN_joint_XX=77568;gnomADv4_1_AN_joint_XY=74136;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2082;gnomADv4_1_nhomalt_joint_XX=994;gnomADv4_1_nhomalt_joint_XY=1088;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28957466 chr22_28957466_G_A G A 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.783;CADD_Rawscore=-0.08043;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-29610G>A|||||||rs5752843||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.28957466G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-29610G>A|||||||rs5752843||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28957466G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-29610G>A|||||||rs5752843||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28957466G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-29610G>A|||||||rs5752843||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.28957466G>A|||||||||||||;SpliceAI=A|ZNRF3|0.02|0.00|0.00|0.00|-1|1|-1|-6;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=15551;gnomADv4_1_AC_joint_XX=7563;gnomADv4_1_AC_joint_XY=7988;gnomADv4_1_AF_grpmax_joint=0.192851;gnomADv4_1_AF_joint=0.102222;gnomADv4_1_AF_joint_XX=0.0972783;gnomADv4_1_AF_joint_XY=0.107389;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1084;gnomADv4_1_nhomalt_joint_XX=500;gnomADv4_1_nhomalt_joint_XY=584;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28957642 chr22_28957642_T_C T C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=5.294;CADD_Rawscore=0.483678;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-29434T>C|||||||rs13058453||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.28957642T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-29434T>C|||||||rs13058453||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28957642T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-29434T>C|||||||rs13058453||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28957642T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-29434T>C|||||||rs13058453||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.28957642T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-16|10|-16|-30;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=20847;gnomADv4_1_AC_joint_XX=10476;gnomADv4_1_AC_joint_XY=10371;gnomADv4_1_AF_grpmax_joint=0.426233;gnomADv4_1_AF_joint=0.137593;gnomADv4_1_AF_joint_XX=0.13516;gnomADv4_1_AF_joint_XY=0.140141;gnomADv4_1_AN_grpmax_joint=4948;gnomADv4_1_AN_joint=151512;gnomADv4_1_AN_joint_XX=77508;gnomADv4_1_AN_joint_XY=74004;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2056;gnomADv4_1_nhomalt_joint_XX=983;gnomADv4_1_nhomalt_joint_XY=1073;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28960511 chr22_28960511_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.76;CADD_Rawscore=-0.088079;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-26565A>G|||||||rs739197||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28960511A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-26565A>G|||||||rs739197||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28960511A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-26565A>G|||||||rs739197||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28960511A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-26565A>G|||||||rs739197||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28960511A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-3|2|-5|-48;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=127421;gnomADv4_1_AC_joint_XX=64904;gnomADv4_1_AC_joint_XY=62517;gnomADv4_1_AF_grpmax_joint=0.95056;gnomADv4_1_AF_joint=0.837745;gnomADv4_1_AF_joint_XX=0.835079;gnomADv4_1_AF_joint_XY=0.840531;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=54425;gnomADv4_1_nhomalt_joint_XX=27648;gnomADv4_1_nhomalt_joint_XY=26777;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28961134 chr22_28961134_T_A T A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.453;CADD_Rawscore=0.079788;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-25942T>A|||||||rs112834240||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.28961134T>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-25942T>A|||||||rs112834240||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28961134T>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-25942T>A|||||||rs112834240||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28961134T>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-25942T>A|||||||rs112834240||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.28961134T>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|-47|13|-1|-36;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=2239;gnomADv4_1_AC_joint_XX=1215;gnomADv4_1_AC_joint_XY=1024;gnomADv4_1_AF_grpmax_joint=0.0510204;gnomADv4_1_AF_joint=0.014702;gnomADv4_1_AF_joint_XX=0.0156126;gnomADv4_1_AF_joint_XY=0.0137505;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152292;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74470;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=37;gnomADv4_1_nhomalt_joint_XX=24;gnomADv4_1_nhomalt_joint_XY=13;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28962231 chr22_28962231_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.472;CADD_Rawscore=-0.207579;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-24845T>C|||||||rs5762916||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.28962231T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-24845T>C|||||||rs5762916||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28962231T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-24845T>C|||||||rs5762916||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28962231T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-24845T>C|||||||rs5762916||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.28962231T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-48|14|-48|-18;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=127155;gnomADv4_1_AC_joint_XX=64728;gnomADv4_1_AC_joint_XY=62427;gnomADv4_1_AF_grpmax_joint=0.953457;gnomADv4_1_AF_joint=0.835436;gnomADv4_1_AF_joint_XX=0.832258;gnomADv4_1_AF_joint_XY=0.838757;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152202;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=54253;gnomADv4_1_nhomalt_joint_XX=27532;gnomADv4_1_nhomalt_joint_XY=26721;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28962814 chr22_28962814_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.205;CADD_Rawscore=0.475158;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-24262C>T|||||||rs2239828||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28962814C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-24262C>T|||||||rs2239828||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28962814C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-24262C>T|||||||rs2239828||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28962814C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-24262C>T|||||||rs2239828||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.28962814C>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|14|-44|0|-4;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=86591;gnomADv4_1_AC_joint_XX=44270;gnomADv4_1_AC_joint_XY=42321;gnomADv4_1_AF_grpmax_joint=0.68498;gnomADv4_1_AF_joint=0.569355;gnomADv4_1_AF_joint_XX=0.569433;gnomADv4_1_AF_joint_XY=0.569274;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=152086;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26628;gnomADv4_1_nhomalt_joint_XX=13644;gnomADv4_1_nhomalt_joint_XY=12984;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28963114 chr22_28963114_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=2.19;CADD_Rawscore=0.188114;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-23962A>G|||||||rs5752844||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28963114A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-23962A>G|||||||rs5752844||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28963114A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-23962A>G|||||||rs5752844||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28963114A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-23962A>G|||||||rs5752844||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28963114A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-21|4|-6|11;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=118002;gnomADv4_1_AC_joint_XX=59941;gnomADv4_1_AC_joint_XY=58061;gnomADv4_1_AF_grpmax_joint=0.947643;gnomADv4_1_AF_joint=0.775462;gnomADv4_1_AF_joint_XX=0.770648;gnomADv4_1_AF_joint_XY=0.780495;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=49129;gnomADv4_1_nhomalt_joint_XX=24877;gnomADv4_1_nhomalt_joint_XY=24252;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28964309 chr22_28964309_A_G A G 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.265;CADD_Rawscore=0.299318;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-22767A>G|||||||rs4822998||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28964309A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-22767A>G|||||||rs4822998||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28964309A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-22767A>G|||||||rs4822998||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28964309A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-22767A>G|||||||rs4822998||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28964309A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|1|3|-18|2;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=72023;gnomADv4_1_AC_joint_XX=36564;gnomADv4_1_AC_joint_XY=35459;gnomADv4_1_AF_grpmax_joint=0.582417;gnomADv4_1_AF_joint=0.473592;gnomADv4_1_AF_joint_XX=0.47041;gnomADv4_1_AF_joint_XY=0.47692;gnomADv4_1_AN_grpmax_joint=15276;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=17840;gnomADv4_1_nhomalt_joint_XX=9015;gnomADv4_1_nhomalt_joint_XY=8825;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28964462 chr22_28964462_G_A G A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.074;CADD_Rawscore=0.000637;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-22614G>A|||||||rs34293193||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.28964462G>A|||1||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-22614G>A|||||||rs34293193||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28964462G>A|||1||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-22614G>A|||||||rs34293193||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28964462G>A|||1||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-22614G>A|||||||rs34293193||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.28964462G>A|||1||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|28|37|-7|-49;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=39718;gnomADv4_1_AC_joint_XX=20372;gnomADv4_1_AC_joint_XY=19346;gnomADv4_1_AF_grpmax_joint=0.411565;gnomADv4_1_AF_joint=0.26123;gnomADv4_1_AF_joint_XX=0.26212;gnomADv4_1_AF_joint_XY=0.2603;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6466;gnomADv4_1_nhomalt_joint_XX=3329;gnomADv4_1_nhomalt_joint_XY=3137;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28964667 chr22_28964667_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=5.716;CADD_Rawscore=0.524743;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-22409T>C|||||||rs713892||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.28964667T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-22409T>C|||||||rs713892||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28964667T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-22409T>C|||||||rs713892||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28964667T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-22409T>C|||||||rs713892||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.28964667T>C|||||||||||||;SpliceAI=C|ZNRF3|0.01|0.00|0.00|0.00|4|34|4|3;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=128769;gnomADv4_1_AC_joint_XX=65590;gnomADv4_1_AC_joint_XY=63179;gnomADv4_1_AF_grpmax_joint=0.954897;gnomADv4_1_AF_joint=0.84594;gnomADv4_1_AF_joint_XX=0.843124;gnomADv4_1_AF_joint_XY=0.848883;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152220;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=55484;gnomADv4_1_nhomalt_joint_XX=28183;gnomADv4_1_nhomalt_joint_XY=27301;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28965171 chr22_28965171_A_G A G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.226;CADD_Rawscore=-0.395458;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-21905A>G|||||||rs2213645||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28965171A>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-21905A>G|||||||rs2213645||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28965171A>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-21905A>G|||||||rs2213645||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28965171A>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-21905A>G|||||||rs2213645||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28965171A>G|||1||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|49|2|49|-21;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=71812;gnomADv4_1_AC_joint_XX=36472;gnomADv4_1_AC_joint_XY=35340;gnomADv4_1_AF_grpmax_joint=0.580888;gnomADv4_1_AF_joint=0.472404;gnomADv4_1_AF_joint_XX=0.469311;gnomADv4_1_AF_joint_XY=0.475639;gnomADv4_1_AN_grpmax_joint=15268;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=17759;gnomADv4_1_nhomalt_joint_XX=8984;gnomADv4_1_nhomalt_joint_XY=8775;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28967656 chr22_28967656_G_A G A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.483;CADD_Rawscore=0.085158;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-19420G>A|||||||rs5762920||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.28967656G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-19420G>A|||||||rs5762920||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28967656G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-19420G>A|||||||rs5762920||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28967656G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-19420G>A|||||||rs5762920||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.28967656G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|-44|1|39|-43;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=110863;gnomADv4_1_AC_joint_XX=56519;gnomADv4_1_AC_joint_XY=54344;gnomADv4_1_AF_grpmax_joint=0.894558;gnomADv4_1_AF_joint=0.72965;gnomADv4_1_AF_joint_XX=0.727756;gnomADv4_1_AF_joint_XY=0.73163;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151940;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=43693;gnomADv4_1_nhomalt_joint_XX=22291;gnomADv4_1_nhomalt_joint_XY=21402;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28971904 chr22_28971904_C_T C T 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=5.081;CADD_Rawscore=0.463431;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-15172C>T|||||||rs5752846||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28971904C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-15172C>T|||||||rs5752846||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28971904C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-15172C>T|||||||rs5752846||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28971904C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-15172C>T|||||||rs5752846||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.28971904C>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|10|-11|-31|-11;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=18413;gnomADv4_1_AC_joint_XX=9176;gnomADv4_1_AC_joint_XY=9237;gnomADv4_1_AF_grpmax_joint=0.212329;gnomADv4_1_AF_joint=0.12118;gnomADv4_1_AF_joint_XX=0.118086;gnomADv4_1_AF_joint_XY=0.124417;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151948;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1456;gnomADv4_1_nhomalt_joint_XX=714;gnomADv4_1_nhomalt_joint_XY=742;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28972947 chr22_28972947_G_A G A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.443;CADD_Rawscore=0.078031;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-14129G>A|||||||rs5762924||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.28972947G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-14129G>A|||||||rs5762924||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28972947G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-14129G>A|||||||rs5762924||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28972947G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-14129G>A|||||||rs5762924||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.28972947G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|35|-5|24|15;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=130324;gnomADv4_1_AC_joint_XX=66370;gnomADv4_1_AC_joint_XY=63954;gnomADv4_1_AF_grpmax_joint=0.946029;gnomADv4_1_AF_joint=0.856066;gnomADv4_1_AF_joint_XX=0.853173;gnomADv4_1_AF_joint_XY=0.859089;gnomADv4_1_AN_grpmax_joint=5188;gnomADv4_1_AN_joint=152236;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56294;gnomADv4_1_nhomalt_joint_XX=28597;gnomADv4_1_nhomalt_joint_XY=27697;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28973410 chr22_28973410_A_C A C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.984;CADD_Rawscore=0.161835;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-13666A>C|||||||rs5762925||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28973410A>C|||1||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-13666A>C|||||||rs5762925||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28973410A>C|||1||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-13666A>C|||||||rs5762925||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28973410A>C|||1||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-13666A>C|||||||rs5762925||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28973410A>C|||1||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|4|2|3|-20;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=51079;gnomADv4_1_AC_joint_XX=26159;gnomADv4_1_AC_joint_XY=24920;gnomADv4_1_AF_grpmax_joint=0.483404;gnomADv4_1_AF_joint=0.33605;gnomADv4_1_AF_joint_XX=0.336667;gnomADv4_1_AF_joint_XY=0.335406;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8862;gnomADv4_1_nhomalt_joint_XX=4550;gnomADv4_1_nhomalt_joint_XY=4312;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28973939 chr22_28973939_A_ATC A ATC 17 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=17;CADDIndel_PHREDscore=1.007;CADDIndel_Rawscore=-0.015968;CSQ=TC|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-13123_1-13122dup|||||||rs1045233991||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|15|chr22:g.28973953_28973954dup|||||||||||||,TC|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-13123_301-13122dup|||||||rs1045233991||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|15|chr22:g.28973953_28973954dup|||||||||||||,TC|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-13123_301-13122dup|||||||rs1045233991||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||15|chr22:g.28973953_28973954dup|||||||||||||,TC|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-13123_1-13122dup|||||||rs1045233991||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||15|chr22:g.28973953_28973954dup|||||||||||||;TYPE=INDEL;VEP_Allele=TC,TC,TC,TC;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=57;gnomADv4_1_AC_joint_XX=24;gnomADv4_1_AC_joint_XY=33;gnomADv4_1_AF_grpmax_joint=0.00115207;gnomADv4_1_AF_joint=0.000386111;gnomADv4_1_AF_joint_XX=0.000316047;gnomADv4_1_AF_joint_XY=0.000460328;gnomADv4_1_AN_grpmax_joint=14756;gnomADv4_1_AN_joint=147626;gnomADv4_1_AN_joint_XX=75938;gnomADv4_1_AN_joint_XY=71688;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28973953 chr22_28973953_CT_C CT C 25 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=25;CADDIndel_PHREDscore=0.1;CADDIndel_Rawscore=-0.611257;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-13101del|||||||rs553300044||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1|21|chr22:g.28973975del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-13101del|||||||rs553300044||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1|21|chr22:g.28973975del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-13101del|||||||rs553300044||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T|||21|chr22:g.28973975del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-13101del|||||||rs553300044||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T|||21|chr22:g.28973975del|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|50|26|50|26;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=3344;gnomADv4_1_AC_joint_XX=1739;gnomADv4_1_AC_joint_XY=1605;gnomADv4_1_AF_grpmax_joint=0.0748464;gnomADv4_1_AF_joint=0.0300018;gnomADv4_1_AF_joint_XX=0.0294267;gnomADv4_1_AF_joint_XY=0.0306508;gnomADv4_1_AN_grpmax_joint=30930;gnomADv4_1_AN_joint=111460;gnomADv4_1_AN_joint_XX=59096;gnomADv4_1_AN_joint_XY=52364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=36;gnomADv4_1_nhomalt_joint_XX=19;gnomADv4_1_nhomalt_joint_XY=17;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28973989 chr22_28973989_G_A G A 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=2.935;CADD_Rawscore=0.268229;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-13087G>A|||||||rs12484882||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.28973989G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-13087G>A|||||||rs12484882||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28973989G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-13087G>A|||||||rs12484882||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28973989G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-13087G>A|||||||rs12484882||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.28973989G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|14|-10|-10|19;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=35084;gnomADv4_1_AC_joint_XX=18455;gnomADv4_1_AC_joint_XY=16629;gnomADv4_1_AF_grpmax_joint=0.439024;gnomADv4_1_AF_joint=0.264621;gnomADv4_1_AF_joint_XX=0.264854;gnomADv4_1_AF_joint_XY=0.264364;gnomADv4_1_AN_grpmax_joint=246;gnomADv4_1_AN_joint=132582;gnomADv4_1_AN_joint_XX=69680;gnomADv4_1_AN_joint_XY=62902;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5404;gnomADv4_1_nhomalt_joint_XX=2889;gnomADv4_1_nhomalt_joint_XY=2515;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28975507 chr22_28975507_C_CA C CA 16 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=16;CADDIndel_PHREDscore=4.441;CADDIndel_Rawscore=0.404559;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-11548dup|||||||rs71316877||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|21|chr22:g.28975528dup|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-11548dup|||||||rs71316877||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|21|chr22:g.28975528dup|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-11548dup|||||||rs71316877||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||21|chr22:g.28975528dup|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-11548dup|||||||rs71316877||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||21|chr22:g.28975528dup|||||||||||||;SpliceAI=CA|ZNRF3|0.00|0.00|0.00|0.00|23|-27|11|8;TYPE=INDEL;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=19551;gnomADv4_1_AC_joint_XX=11251;gnomADv4_1_AC_joint_XY=8300;gnomADv4_1_AF_grpmax_joint=0.514023;gnomADv4_1_AF_joint=0.409754;gnomADv4_1_AF_joint_XX=0.424566;gnomADv4_1_AF_joint_XY=0.391251;gnomADv4_1_AN_grpmax_joint=27240;gnomADv4_1_AN_joint=47714;gnomADv4_1_AN_joint_XX=26500;gnomADv4_1_AN_joint_XY=21214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4454;gnomADv4_1_nhomalt_joint_XX=2639;gnomADv4_1_nhomalt_joint_XY=1815;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28975773 chr22_28975773_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.739;CADD_Rawscore=-0.095356;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-11303C>T|||||||rs13055470||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28975773C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-11303C>T|||||||rs13055470||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28975773C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-11303C>T|||||||rs13055470||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28975773C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-11303C>T|||||||rs13055470||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.28975773C>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|-7|-10|-11|3;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=37704;gnomADv4_1_AC_joint_XX=19496;gnomADv4_1_AC_joint_XY=18208;gnomADv4_1_AF_grpmax_joint=0.394558;gnomADv4_1_AF_joint=0.248226;gnomADv4_1_AF_joint_XX=0.250972;gnomADv4_1_AF_joint_XY=0.245351;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151894;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74212;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5861;gnomADv4_1_nhomalt_joint_XX=3080;gnomADv4_1_nhomalt_joint_XY=2781;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28978734 chr22_28978734_C_CA C CA 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=8.242;CADDIndel_Rawscore=0.795337;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-8340dup|||||||rs35145983||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|2|chr22:g.28978736dup|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-8340dup|||||||rs35145983||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|2|chr22:g.28978736dup|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-8340dup|||||||rs35145983||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||2|chr22:g.28978736dup|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-8340dup|||||||rs35145983||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||2|chr22:g.28978736dup|||||||||||||;SpliceAI=CA|ZNRF3|0.00|0.00|0.00|0.00|21|-3|21|-2;TYPE=INDEL;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=39704;gnomADv4_1_AC_joint_XX=20331;gnomADv4_1_AC_joint_XY=19373;gnomADv4_1_AF_grpmax_joint=0.393836;gnomADv4_1_AF_joint=0.261004;gnomADv4_1_AF_joint_XX=0.261418;gnomADv4_1_AF_joint_XY=0.260572;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6449;gnomADv4_1_nhomalt_joint_XX=3347;gnomADv4_1_nhomalt_joint_XY=3102;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28979038 chr22_28979038_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=14.01;CADD_Rawscore=1.47012;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-8038C>T|||||||rs10854810||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28979038C>T|||1||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-8038C>T|||||||rs10854810||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28979038C>T|||1||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-8038C>T|||||||rs10854810||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28979038C>T|||1||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-8038C>T|||||||rs10854810||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.28979038C>T|||1||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|11|2|48|-7;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000402174,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=34948;gnomADv4_1_AC_joint_XX=17848;gnomADv4_1_AC_joint_XY=17100;gnomADv4_1_AF_grpmax_joint=0.309209;gnomADv4_1_AF_joint=0.229867;gnomADv4_1_AF_joint_XX=0.229615;gnomADv4_1_AF_joint_XY=0.230129;gnomADv4_1_AN_grpmax_joint=15268;gnomADv4_1_AN_joint=152036;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4934;gnomADv4_1_nhomalt_joint_XX=2520;gnomADv4_1_nhomalt_joint_XY=2414;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28982433 chr22_28982433_CAAAAAAA_C CAAAAAAA C 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.754;CADDIndel_Rawscore=-0.090179;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-4626_1-4620del|||||||rs61589852||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||AAAAAAA|AAAAAAA||1|16|chr22:g.28982450_28982456del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs61589852|4612|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||AAAAAAA|AAAAAAA||1||chr22:g.28982450_28982456del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-4626_301-4620del|||||||rs61589852||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||AAAAAAA|AAAAAAA||1|16|chr22:g.28982450_28982456del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-4626_301-4620del|||||||rs61589852||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||AAAAAAA|AAAAAAA|||16|chr22:g.28982450_28982456del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-4626_1-4620del|||||||rs61589852||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||AAAAAAA|AAAAAAA|||16|chr22:g.28982450_28982456del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=29168;gnomADv4_1_AC_joint_XX=15500;gnomADv4_1_AC_joint_XY=13668;gnomADv4_1_AF_grpmax_joint=0.554795;gnomADv4_1_AF_joint=0.382361;gnomADv4_1_AF_joint_XX=0.383701;gnomADv4_1_AF_joint_XY=0.380852;gnomADv4_1_AN_grpmax_joint=146;gnomADv4_1_AN_joint=76284;gnomADv4_1_AN_joint_XX=40396;gnomADv4_1_AN_joint_XY=35888;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2991;gnomADv4_1_nhomalt_joint_XX=1553;gnomADv4_1_nhomalt_joint_XY=1438;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28982622 chr22_28982622_T_C T C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.201;CADD_Rawscore=0.029749;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-4454T>C|||||||rs17518058||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.28982622T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs17518058|4430|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.28982622T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-4454T>C|||||||rs17518058||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28982622T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-4454T>C|||||||rs17518058||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28982622T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-4454T>C|||||||rs17518058||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.28982622T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-5|-8|-22|35;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=39155;gnomADv4_1_AC_joint_XX=20053;gnomADv4_1_AC_joint_XY=19102;gnomADv4_1_AF_grpmax_joint=0.401361;gnomADv4_1_AF_joint=0.258732;gnomADv4_1_AF_joint_XX=0.259009;gnomADv4_1_AF_joint_XY=0.258442;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151334;gnomADv4_1_AN_joint_XX=77422;gnomADv4_1_AN_joint_XY=73912;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6322;gnomADv4_1_nhomalt_joint_XX=3280;gnomADv4_1_nhomalt_joint_XY=3042;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28984131 chr22_28984131_TA_T TA T 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.009;CADDIndel_Rawscore=-1.30312;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-2937del|||||||rs147413364||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1|7|chr22:g.28984139del|||1||||||||||,-|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs147413364|2920|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28984139del|||1||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-2937del|||||||rs147413364||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1|7|chr22:g.28984139del|||1||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-2937del|||||||rs147413364||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A|||7|chr22:g.28984139del|||1||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-2937del|||||||rs147413364||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A|||7|chr22:g.28984139del|||1||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|-36|-43|-47|-36;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=38395;gnomADv4_1_AC_joint_XX=19702;gnomADv4_1_AC_joint_XY=18693;gnomADv4_1_AF_grpmax_joint=0.39726;gnomADv4_1_AF_joint=0.25534;gnomADv4_1_AF_joint_XX=0.255877;gnomADv4_1_AF_joint_XY=0.254777;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=150368;gnomADv4_1_AN_joint_XX=76998;gnomADv4_1_AN_joint_XY=73370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6033;gnomADv4_1_nhomalt_joint_XX=3134;gnomADv4_1_nhomalt_joint_XY=2899;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28984267 chr22_28984267_T_C T C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.37;CADD_Rawscore=0.490958;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-2809T>C|||||||rs2347788||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.28984267T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs2347788|2785|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.28984267T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-2809T>C|||||||rs2347788||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.28984267T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-2809T>C|||||||rs2347788||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.28984267T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-2809T>C|||||||rs2347788||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.28984267T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-20|-43|31|18;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=78542;gnomADv4_1_AC_joint_XX=39850;gnomADv4_1_AC_joint_XY=38692;gnomADv4_1_AF_grpmax_joint=0.598178;gnomADv4_1_AF_joint=0.517193;gnomADv4_1_AF_joint_XX=0.513306;gnomADv4_1_AF_joint_XY=0.521259;gnomADv4_1_AN_grpmax_joint=15258;gnomADv4_1_AN_joint=151862;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=20739;gnomADv4_1_nhomalt_joint_XX=10467;gnomADv4_1_nhomalt_joint_XY=10272;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28985007 chr22_28985007_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.175;CADD_Rawscore=-0.461302;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-2069G>A|||||||rs7290686||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.28985007G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs7290686|2045|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.28985007G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-2069G>A|||||||rs7290686||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.28985007G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-2069G>A|||||||rs7290686||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.28985007G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-2069G>A|||||||rs7290686||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.28985007G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|42|-13|-41|17;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=37292;gnomADv4_1_AC_joint_XX=19261;gnomADv4_1_AC_joint_XY=18031;gnomADv4_1_AF_grpmax_joint=0.394558;gnomADv4_1_AF_joint=0.245278;gnomADv4_1_AF_joint_XX=0.247775;gnomADv4_1_AF_joint_XY=0.242665;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5755;gnomADv4_1_nhomalt_joint_XX=3014;gnomADv4_1_nhomalt_joint_XY=2741;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28985164 chr22_28985164_C_G C G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.18;CADD_Rawscore=-0.45492;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-1912C>G|||||||rs5762935||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28985164C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs5762935|1888|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28985164C>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-1912C>G|||||||rs5762935||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28985164C>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-1912C>G|||||||rs5762935||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28985164C>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-1912C>G|||||||rs5762935||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.28985164C>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-19|38|5|38;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=130919;gnomADv4_1_AC_joint_XX=66728;gnomADv4_1_AC_joint_XY=64191;gnomADv4_1_AF_grpmax_joint=0.948029;gnomADv4_1_AF_joint=0.860777;gnomADv4_1_AF_joint_XX=0.858194;gnomADv4_1_AF_joint_XY=0.863479;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56796;gnomADv4_1_nhomalt_joint_XX=28883;gnomADv4_1_nhomalt_joint_XY=27913;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 28985389 chr22_28985389_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.288;CADD_Rawscore=-0.332634;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-1687C>T|||||||rs5762936||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28985389C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs5762936|1663|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28985389C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-1687C>T|||||||rs5762936||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28985389C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-1687C>T|||||||rs5762936||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28985389C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-1687C>T|||||||rs5762936||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.28985389C>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|47|23|-8|23;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=67087;gnomADv4_1_AC_joint_XX=34004;gnomADv4_1_AC_joint_XY=33083;gnomADv4_1_AF_grpmax_joint=0.561443;gnomADv4_1_AF_joint=0.441804;gnomADv4_1_AF_joint_XX=0.437959;gnomADv4_1_AF_joint_XY=0.445826;gnomADv4_1_AN_grpmax_joint=15250;gnomADv4_1_AN_joint=151848;gnomADv4_1_AN_joint_XX=77642;gnomADv4_1_AN_joint_XY=74206;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=16573;gnomADv4_1_nhomalt_joint_XX=8347;gnomADv4_1_nhomalt_joint_XY=8226;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28986384 chr22_28986384_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=13.17;CADD_Rawscore=1.3383;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||1/8|ENST00000402174.5:c.1-692C>T|||||||rs73172428||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28986384C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs73172428|668|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.28986384C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||1/8|ENST00000544604.7:c.301-692C>T|||||||rs73172428||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.28986384C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||1/8|NM_001206998.2:c.301-692C>T|||||||rs73172428||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.28986384C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||1/8|NM_032173.4:c.1-692C>T|||||||rs73172428||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.28986384C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FHMB|enhancer||||||||||rs73172428|||||||||||||||||||||chr22:g.28986384C>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|-2|-22|-2|24;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4,ENSR22_9FHMB;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=5941;gnomADv4_1_AC_joint_XX=3203;gnomADv4_1_AC_joint_XY=2738;gnomADv4_1_AF_grpmax_joint=0.108844;gnomADv4_1_AF_joint=0.0390147;gnomADv4_1_AF_joint_XX=0.0411496;gnomADv4_1_AF_joint_XY=0.0367823;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152276;gnomADv4_1_AN_joint_XX=77838;gnomADv4_1_AN_joint_XY=74438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=160;gnomADv4_1_nhomalt_joint_XX=89;gnomADv4_1_nhomalt_joint_XY=71;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28987435 chr22_28987435_A_G A G 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.226;CADD_Rawscore=-0.394633;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+234A>G|||||||rs62236876||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28987435A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+234A>G|||||||rs62236876||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28987435A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+234A>G|||||||rs62236876||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28987435A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+234A>G|||||||rs62236876||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28987435A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+234A>G|||||||rs62236876||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28987435A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-5|2|14|2;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=12350;gnomADv4_1_AC_joint_XX=6429;gnomADv4_1_AC_joint_XY=5921;gnomADv4_1_AF_grpmax_joint=0.153061;gnomADv4_1_AF_joint=0.0811315;gnomADv4_1_AF_joint_XX=0.0826265;gnomADv4_1_AF_joint_XY=0.0795684;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152222;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=756;gnomADv4_1_nhomalt_joint_XX=410;gnomADv4_1_nhomalt_joint_XY=346;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28991279 chr22_28991279_CAAAA_C CAAAA C 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=23;CADDIndel_PHREDscore=0.195;CADDIndel_Rawscore=-0.43339;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+4107_126+4110del|||||||rs59317059||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||AAAA|AAAA||1|28|chr22:g.28991308_28991311del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+4107_126+4110del|||||||rs59317059||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||AAAA|AAAA||1|28|chr22:g.28991308_28991311del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs59317059|1438|1||HGNC|HGNC:41440|5||||||||Ensembl||AAAA|AAAA||||chr22:g.28991308_28991311del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+4107_426+4110del|||||||rs59317059||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||AAAA|AAAA||1|28|chr22:g.28991308_28991311del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+4107_426+4110del|||||||rs59317059||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||AAAA|AAAA|||28|chr22:g.28991308_28991311del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+4107_126+4110del|||||||rs59317059||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||AAAA|AAAA|||28|chr22:g.28991308_28991311del|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|30|11|40|3;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=13146;gnomADv4_1_AC_joint_XX=7630;gnomADv4_1_AC_joint_XY=5516;gnomADv4_1_AF_grpmax_joint=0.296308;gnomADv4_1_AF_joint=0.257916;gnomADv4_1_AF_joint_XX=0.260232;gnomADv4_1_AF_joint_XY=0.254781;gnomADv4_1_AN_grpmax_joint=3088;gnomADv4_1_AN_joint=50970;gnomADv4_1_AN_joint_XX=29320;gnomADv4_1_AN_joint_XY=21650;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=142;gnomADv4_1_nhomalt_joint_XX=64;gnomADv4_1_nhomalt_joint_XY=78;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28991309 chr22_28991309_A_G A G 22 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=22;CADD_PHREDscore=0.198;CADD_Rawscore=-0.429304;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+4108A>G|||||||rs60508308||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28991309A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+4108A>G|||||||rs60508308||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28991309A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs60508308|1412|1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.28991309A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+4108A>G|||||||rs60508308||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28991309A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+4108A>G|||||||rs60508308||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28991309A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+4108A>G|||||||rs60508308||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28991309A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|1|7|23|-27;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=3301;gnomADv4_1_AC_joint_XX=1785;gnomADv4_1_AC_joint_XY=1516;gnomADv4_1_AF_grpmax_joint=0.0646924;gnomADv4_1_AF_joint=0.0244732;gnomADv4_1_AF_joint_XX=0.025637;gnomADv4_1_AF_joint_XY=0.0232316;gnomADv4_1_AN_grpmax_joint=34780;gnomADv4_1_AN_joint=134882;gnomADv4_1_AN_joint_XX=69626;gnomADv4_1_AN_joint_XY=65256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=102;gnomADv4_1_nhomalt_joint_XX=51;gnomADv4_1_nhomalt_joint_XY=51;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28991990 chr22_28991990_A_T A T 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.168;CADD_Rawscore=0.022618;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+4789A>T|||||||rs7291953||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28991990A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+4789A>T|||||||rs7291953||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28991990A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs7291953|731|1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.28991990A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+4789A>T|||||||rs7291953||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28991990A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+4789A>T|||||||rs7291953||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28991990A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+4789A>T|||||||rs7291953||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28991990A>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|12|-8|-29|-1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=38958;gnomADv4_1_AC_joint_XX=20130;gnomADv4_1_AC_joint_XY=18828;gnomADv4_1_AF_grpmax_joint=0.401361;gnomADv4_1_AF_joint=0.257335;gnomADv4_1_AF_joint_XX=0.259863;gnomADv4_1_AF_joint_XY=0.254687;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151390;gnomADv4_1_AN_joint_XX=77464;gnomADv4_1_AN_joint_XY=73926;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6194;gnomADv4_1_nhomalt_joint_XX=3251;gnomADv4_1_nhomalt_joint_XY=2943;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28993214 chr22_28993214_A_T A T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.839;CADD_Rawscore=-0.062875;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+6013A>T|||||||rs11704960||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28993214A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+6013A>T|||||||rs11704960||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28993214A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.217+277A>T|||||||rs11704960||1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.28993214A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+6013A>T|||||||rs11704960||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28993214A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+6013A>T|||||||rs11704960||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28993214A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+6013A>T|||||||rs11704960||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28993214A>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|44|2|18|24;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=38285;gnomADv4_1_AC_joint_XX=19769;gnomADv4_1_AC_joint_XY=18516;gnomADv4_1_AF_grpmax_joint=0.394558;gnomADv4_1_AF_joint=0.25165;gnomADv4_1_AF_joint_XX=0.254205;gnomADv4_1_AF_joint_XY=0.248978;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6023;gnomADv4_1_nhomalt_joint_XX=3155;gnomADv4_1_nhomalt_joint_XY=2868;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 28994061 chr22_28994061_A_G A G 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.783;CADD_Rawscore=0.133639;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+6860A>G|||||||rs5762942||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28994061A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+6860A>G|||||||rs5762942||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28994061A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.217+1124A>G|||||||rs5762942||1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.28994061A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+6860A>G|||||||rs5762942||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28994061A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+6860A>G|||||||rs5762942||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28994061A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+6860A>G|||||||rs5762942||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28994061A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|47|46|-5|46;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=78130;gnomADv4_1_AC_joint_XX=39629;gnomADv4_1_AC_joint_XY=38501;gnomADv4_1_AF_grpmax_joint=0.598543;gnomADv4_1_AF_joint=0.514758;gnomADv4_1_AF_joint_XX=0.510459;gnomADv4_1_AF_joint_XY=0.519259;gnomADv4_1_AN_grpmax_joint=15242;gnomADv4_1_AN_joint=151780;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74146;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=20500;gnomADv4_1_nhomalt_joint_XX=10338;gnomADv4_1_nhomalt_joint_XY=10162;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 28994176 chr22_28994176_CTT_C;chr22_28994176_CTTTTTT_C CTT C 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=18;CADDIndel_PHREDscore=0.552;CADDIndel_Rawscore=-0.168222;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+7001_126+7002del|||||||rs57329565||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||TT|TT||1|25|chr22:g.28994202_28994203del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+7001_126+7002del|||||||rs57329565||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||TT|TT||1|25|chr22:g.28994202_28994203del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.217+1265_217+1266del|||||||rs57329565||1||HGNC|HGNC:41440|5||||||||Ensembl||TT|TT|||25|chr22:g.28994202_28994203del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+7001_426+7002del|||||||rs57329565||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||TT|TT||1|25|chr22:g.28994202_28994203del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+7001_426+7002del|||||||rs57329565||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||TT|TT|||25|chr22:g.28994202_28994203del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+7001_126+7002del|||||||rs57329565||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||TT|TT|||25|chr22:g.28994202_28994203del|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|31|35|19|31;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=6811;gnomADv4_1_AC_joint_XX=3994;gnomADv4_1_AC_joint_XY=2817;gnomADv4_1_AF_grpmax_joint=0.222847;gnomADv4_1_AF_joint=0.172448;gnomADv4_1_AF_joint_XX=0.177338;gnomADv4_1_AF_joint_XY=0.16596;gnomADv4_1_AN_grpmax_joint=22778;gnomADv4_1_AN_joint=39496;gnomADv4_1_AN_joint_XX=22522;gnomADv4_1_AN_joint_XY=16974;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=55;gnomADv4_1_nhomalt_joint_XX=22;gnomADv4_1_nhomalt_joint_XY=33;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28994176 chr22_28994176_CTT_C;chr22_28994176_CTTTTTT_C CTTTTTT C 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=19;CADDIndel_PHREDscore=0.49;CADDIndel_Rawscore=-0.198437;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+6997_126+7002del|||||||rs57329565||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||TTTTTT|TTTTTT||1|21|chr22:g.28994198_28994203del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+6997_126+7002del|||||||rs57329565||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||TTTTTT|TTTTTT||1|21|chr22:g.28994198_28994203del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.217+1261_217+1266del|||||||rs57329565||1||HGNC|HGNC:41440|5||||||||Ensembl||TTTTTT|TTTTTT|||21|chr22:g.28994198_28994203del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+6997_426+7002del|||||||rs57329565||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||TTTTTT|TTTTTT||1|21|chr22:g.28994198_28994203del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+6997_426+7002del|||||||rs57329565||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||TTTTTT|TTTTTT|||21|chr22:g.28994198_28994203del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+6997_126+7002del|||||||rs57329565||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||TTTTTT|TTTTTT|||21|chr22:g.28994198_28994203del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=6442;gnomADv4_1_AC_joint_XX=3642;gnomADv4_1_AC_joint_XY=2800;gnomADv4_1_AF_grpmax_joint=0.264637;gnomADv4_1_AF_joint=0.161413;gnomADv4_1_AF_joint_XX=0.159947;gnomADv4_1_AF_joint_XY=0.163361;gnomADv4_1_AN_grpmax_joint=2562;gnomADv4_1_AN_joint=39910;gnomADv4_1_AN_joint_XX=22770;gnomADv4_1_AN_joint_XY=17140;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=142;gnomADv4_1_nhomalt_joint_XX=73;gnomADv4_1_nhomalt_joint_XY=69;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28997988 chr22_28997988_TAA_T TAA T 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=37;CADDIndel_PHREDscore=0.398;CADDIndel_Rawscore=-0.250597;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+10810_126+10811del|||||||rs557887667||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||AA|AA||1|22|chr22:g.28998011_28998012del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+10810_126+10811del|||||||rs557887667||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||AA|AA||1|22|chr22:g.28998011_28998012del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.217+5074_217+5075del|||||||rs557887667||1||HGNC|HGNC:41440|5||||||||Ensembl||AA|AA|||22|chr22:g.28998011_28998012del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+10810_426+10811del|||||||rs557887667||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||AA|AA||1|22|chr22:g.28998011_28998012del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+10810_426+10811del|||||||rs557887667||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||AA|AA|||22|chr22:g.28998011_28998012del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+10810_126+10811del|||||||rs557887667||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||AA|AA|||22|chr22:g.28998011_28998012del|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|26|36|24|-18;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=29085;gnomADv4_1_AC_joint_XX=15881;gnomADv4_1_AC_joint_XY=13204;gnomADv4_1_AF_grpmax_joint=0.413462;gnomADv4_1_AF_joint=0.253032;gnomADv4_1_AF_joint_XX=0.259527;gnomADv4_1_AF_joint_XY=0.245638;gnomADv4_1_AN_grpmax_joint=208;gnomADv4_1_AN_joint=114946;gnomADv4_1_AN_joint_XX=61192;gnomADv4_1_AN_joint_XY=53754;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4236;gnomADv4_1_nhomalt_joint_XX=2353;gnomADv4_1_nhomalt_joint_XY=1883;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28999163 chr22_28999163_CA_C CA C 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=23;CADDIndel_PHREDscore=0.022;CADDIndel_Rawscore=-1.02798;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+11983del|||||||rs10601140||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1|20|chr22:g.28999184del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+11983del|||||||rs10601140||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1|20|chr22:g.28999184del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.217+6247del|||||||rs10601140||1||HGNC|HGNC:41440|5||||||||Ensembl||A|A|||20|chr22:g.28999184del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+11983del|||||||rs10601140||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1|20|chr22:g.28999184del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+11983del|||||||rs10601140||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A|||20|chr22:g.28999184del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+11983del|||||||rs10601140||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A|||20|chr22:g.28999184del|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|26|3|29|-27;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=6683;gnomADv4_1_AC_joint_XX=3541;gnomADv4_1_AC_joint_XY=3142;gnomADv4_1_AF_grpmax_joint=0.160093;gnomADv4_1_AF_joint=0.105387;gnomADv4_1_AF_joint_XX=0.105494;gnomADv4_1_AF_joint_XY=0.105267;gnomADv4_1_AN_grpmax_joint=23580;gnomADv4_1_AN_joint=63414;gnomADv4_1_AN_joint_XX=33566;gnomADv4_1_AN_joint_XY=29848;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=247;gnomADv4_1_nhomalt_joint_XX=138;gnomADv4_1_nhomalt_joint_XY=109;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 28999981 chr22_28999981_A_G A G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=11.39;CADD_Rawscore=1.10147;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+12780A>G|||||||rs10483152||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28999981A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+12780A>G|||||||rs10483152||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.28999981A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.217+7044A>G|||||||rs10483152||1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.28999981A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+12780A>G|||||||rs10483152||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.28999981A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+12780A>G|||||||rs10483152||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.28999981A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+12780A>G|||||||rs10483152||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.28999981A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|1|2|24|-14;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=40695;gnomADv4_1_AC_joint_XX=20822;gnomADv4_1_AC_joint_XY=19873;gnomADv4_1_AF_grpmax_joint=0.401361;gnomADv4_1_AF_joint=0.26741;gnomADv4_1_AF_joint_XX=0.267662;gnomADv4_1_AF_joint_XY=0.267146;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152182;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6743;gnomADv4_1_nhomalt_joint_XX=3484;gnomADv4_1_nhomalt_joint_XY=3259;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29001059 chr22_29001059_C_CT C CT 10 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=10;CADDIndel_PHREDscore=0.96;CADDIndel_Rawscore=-0.028353;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+13885dup|||||||rs773296494||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|27|chr22:g.29001086dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+13885dup|||||||rs773296494||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|27|chr22:g.29001086dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.217+8149dup|||||||rs773296494||1||HGNC|HGNC:41440|5||||||||Ensembl||||||27|chr22:g.29001086dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+13885dup|||||||rs773296494||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|27|chr22:g.29001086dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+13885dup|||||||rs773296494||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||27|chr22:g.29001086dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+13885dup|||||||rs773296494||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||27|chr22:g.29001086dup|||||||||||||;SpliceAI=CT|ZNRF3|0.00|0.00|0.00|0.00|3|31|10|31;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=18844;gnomADv4_1_AC_joint_XX=11188;gnomADv4_1_AC_joint_XY=7656;gnomADv4_1_AF_grpmax_joint=0.348197;gnomADv4_1_AF_joint=0.24177;gnomADv4_1_AF_joint_XX=0.266838;gnomADv4_1_AF_joint_XY=0.212584;gnomADv4_1_AN_grpmax_joint=38932;gnomADv4_1_AN_joint=77942;gnomADv4_1_AN_joint_XX=41928;gnomADv4_1_AN_joint_XY=36014;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7069;gnomADv4_1_nhomalt_joint_XX=4233;gnomADv4_1_nhomalt_joint_XY=2836;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29001799 chr22_29001799_T_TTATC T TTATC 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=6.736;CADDIndel_Rawscore=0.629648;CSQ=TATC|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+14602_126+14605dup|||||||rs132563||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|7|chr22:g.29001803_29001806dup|||||||||||||,TATC|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+14602_126+14605dup|||||||rs132563||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|7|chr22:g.29001803_29001806dup|||||||||||||,TATC|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.217+8866_217+8869dup|||||||rs132563||1||HGNC|HGNC:41440|5||||||||Ensembl||||||7|chr22:g.29001803_29001806dup|||||||||||||,TATC|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+14602_426+14605dup|||||||rs132563||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|7|chr22:g.29001803_29001806dup|||||||||||||,TATC|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+14602_426+14605dup|||||||rs132563||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||7|chr22:g.29001803_29001806dup|||||||||||||,TATC|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+14602_126+14605dup|||||||rs132563||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||7|chr22:g.29001803_29001806dup|||||||||||||;TYPE=INDEL;VEP_Allele=TATC,TATC,TATC,TATC,TATC,TATC;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=77730;gnomADv4_1_AC_joint_XX=39449;gnomADv4_1_AC_joint_XY=38281;gnomADv4_1_AF_grpmax_joint=0.597818;gnomADv4_1_AF_joint=0.513076;gnomADv4_1_AF_joint_XX=0.508993;gnomADv4_1_AF_joint_XY=0.517353;gnomADv4_1_AN_grpmax_joint=15212;gnomADv4_1_AN_joint=151498;gnomADv4_1_AN_joint_XX=77504;gnomADv4_1_AN_joint_XY=73994;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=20303;gnomADv4_1_nhomalt_joint_XX=10245;gnomADv4_1_nhomalt_joint_XY=10058;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29002010 chr22_29002010_C_T C T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.61;CADD_Rawscore=-0.143318;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+14809C>T|||||||rs997567||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29002010C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+14809C>T|||||||rs997567||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29002010C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.217+9073C>T|||||||rs997567||1||HGNC|HGNC:41440|5||||||||Ensembl||C|C||||chr22:g.29002010C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+14809C>T|||||||rs997567||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29002010C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+14809C>T|||||||rs997567||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29002010C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+14809C>T|||||||rs997567||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29002010C>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|42|-32|-26|-32;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=40105;gnomADv4_1_AC_joint_XX=20509;gnomADv4_1_AC_joint_XY=19596;gnomADv4_1_AF_grpmax_joint=0.400685;gnomADv4_1_AF_joint=0.263755;gnomADv4_1_AF_joint_XX=0.263863;gnomADv4_1_AF_joint_XY=0.263642;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152054;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6570;gnomADv4_1_nhomalt_joint_XX=3388;gnomADv4_1_nhomalt_joint_XY=3182;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29003256 chr22_29003256_T_C T C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.011;CADD_Rawscore=0.366192;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+16055T>C|||||||rs7289239||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29003256T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+16055T>C|||||||rs7289239||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29003256T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.217+10319T>C|||||||rs7289239||1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29003256T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+16055T>C|||||||rs7289239||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29003256T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+16055T>C|||||||rs7289239||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29003256T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+16055T>C|||||||rs7289239||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29003256T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-45|13|29|-46;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=78403;gnomADv4_1_AC_joint_XX=40528;gnomADv4_1_AC_joint_XY=37875;gnomADv4_1_AF_grpmax_joint=0.668659;gnomADv4_1_AF_joint=0.515667;gnomADv4_1_AF_joint_XX=0.52165;gnomADv4_1_AF_joint_XY=0.509415;gnomADv4_1_AN_grpmax_joint=41492;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20950;gnomADv4_1_nhomalt_joint_XX=10973;gnomADv4_1_nhomalt_joint_XY=9977;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29003413 chr22_29003413_A_G A G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.605;CADD_Rawscore=-0.145351;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+16212A>G|||||||rs132564||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29003413A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+16212A>G|||||||rs132564||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29003413A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.217+10476A>G|||||||rs132564||1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.29003413A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+16212A>G|||||||rs132564||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29003413A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+16212A>G|||||||rs132564||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29003413A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+16212A>G|||||||rs132564||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29003413A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-12|-38|30|42;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=147248;gnomADv4_1_AC_joint_XX=75227;gnomADv4_1_AC_joint_XY=72021;gnomADv4_1_AF_grpmax_joint=0.999417;gnomADv4_1_AF_joint=0.969796;gnomADv4_1_AF_joint_XX=0.968996;gnomADv4_1_AF_joint_XY=0.970633;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=151834;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74200;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=71420;gnomADv4_1_nhomalt_joint_XX=36455;gnomADv4_1_nhomalt_joint_XY=34965;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29004331 chr22_29004331_A_C A C 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.015;CADD_Rawscore=-0.014061;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+17130A>C|||||||rs469993||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29004331A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+17130A>C|||||||rs469993||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29004331A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.217+11394A>C|||||||rs469993||1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.29004331A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+17130A>C|||||||rs469993||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29004331A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+17130A>C|||||||rs469993||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29004331A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+17130A>C|||||||rs469993||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29004331A>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TP5|enhancer||||||||||rs469993|||||||||||||||||||||chr22:g.29004331A>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|33|-49|-44|-5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4,ENSR22_C4TP5;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=146745;gnomADv4_1_AC_joint_XX=74855;gnomADv4_1_AC_joint_XY=71890;gnomADv4_1_AF_grpmax_joint=0.999421;gnomADv4_1_AF_joint=0.963425;gnomADv4_1_AF_joint_XX=0.961652;gnomADv4_1_AF_joint_XY=0.965277;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152316;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70769;gnomADv4_1_nhomalt_joint_XX=36034;gnomADv4_1_nhomalt_joint_XY=34735;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29005345 chr22_29005345_G_A G A 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.004;CADD_Rawscore=-1.56372;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+18144G>A|||||||rs469994||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29005345G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+18144G>A|||||||rs469994||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29005345G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.217+12408G>A|||||||rs469994||1||HGNC|HGNC:41440|5||||||||Ensembl||G|G||||chr22:g.29005345G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+18144G>A|||||||rs469994||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29005345G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+18144G>A|||||||rs469994||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29005345G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+18144G>A|||||||rs469994||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29005345G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TP5|enhancer||||||||||rs469994|||||||||||||||||||||chr22:g.29005345G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|14|-42|-38|43;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4,ENSR22_C4TP5;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66377;gnomADv4_1_AC_joint_XX=33721;gnomADv4_1_AC_joint_XY=32656;gnomADv4_1_AF_grpmax_joint=0.501864;gnomADv4_1_AF_joint=0.43626;gnomADv4_1_AF_joint_XX=0.433488;gnomADv4_1_AF_joint_XY=0.439161;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=14820;gnomADv4_1_nhomalt_joint_XX=7513;gnomADv4_1_nhomalt_joint_XY=7307;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29005510 chr22_29005510_G_A G A 58 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.061;CADD_Rawscore=-0.745764;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+18309G>A|||||||rs132565||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29005510G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+18309G>A|||||||rs132565||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29005510G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.217+12573G>A|||||||rs132565||1||HGNC|HGNC:41440|5||||||||Ensembl||G|G||||chr22:g.29005510G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+18309G>A|||||||rs132565||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29005510G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+18309G>A|||||||rs132565||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29005510G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+18309G>A|||||||rs132565||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29005510G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|34|1|25|-39;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=66283;gnomADv4_1_AC_joint_XX=33666;gnomADv4_1_AC_joint_XY=32617;gnomADv4_1_AF_grpmax_joint=0.5;gnomADv4_1_AF_joint=0.436204;gnomADv4_1_AF_joint_XX=0.433405;gnomADv4_1_AF_joint_XY=0.439132;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=151954;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=14796;gnomADv4_1_nhomalt_joint_XX=7499;gnomADv4_1_nhomalt_joint_XY=7297;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29006213 chr22_29006213_CT_C;chr22_29006213_C_CTTT CT C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=43;CADDIndel_PHREDscore=0.142;CADDIndel_Rawscore=-0.516584;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+19031del|||||||rs372438825||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1|18|chr22:g.29006232del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+19031del|||||||rs372438825||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1|18|chr22:g.29006232del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-11932del|||||||rs372438825||1||HGNC|HGNC:41440|5||||||||Ensembl||T|T|||18|chr22:g.29006232del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+19031del|||||||rs372438825||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1|18|chr22:g.29006232del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+19031del|||||||rs372438825||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T|||18|chr22:g.29006232del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+19031del|||||||rs372438825||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T|||18|chr22:g.29006232del|||||||||||||;SpliceAI=C|ZNRF3|0.02|0.00|0.00|0.00|46|27|-18|46;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=46560;gnomADv4_1_AC_joint_XX=24937;gnomADv4_1_AC_joint_XY=21623;gnomADv4_1_AF_grpmax_joint=0.511858;gnomADv4_1_AF_joint=0.439345;gnomADv4_1_AF_joint_XX=0.434367;gnomADv4_1_AF_joint_XY=0.445229;gnomADv4_1_AN_grpmax_joint=3036;gnomADv4_1_AN_joint=105976;gnomADv4_1_AN_joint_XX=57410;gnomADv4_1_AN_joint_XY=48566;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=8726;gnomADv4_1_nhomalt_joint_XX=4642;gnomADv4_1_nhomalt_joint_XY=4084;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29006213 chr22_29006213_CT_C;chr22_29006213_C_CTTT C CTTT 43 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=19;CADDIndel_PHREDscore=0.113;CADDIndel_Rawscore=-0.577915;CSQ=TTT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+19029_126+19031dup|||||||rs372438825||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|19|chr22:g.29006230_29006232dup|||||||||||||,TTT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+19029_126+19031dup|||||||rs372438825||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|19|chr22:g.29006230_29006232dup|||||||||||||,TTT|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-11934_218-11932dup|||||||rs372438825||1||HGNC|HGNC:41440|5||||||||Ensembl||||||19|chr22:g.29006230_29006232dup|||||||||||||,TTT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+19029_426+19031dup|||||||rs372438825||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|19|chr22:g.29006230_29006232dup|||||||||||||,TTT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+19029_426+19031dup|||||||rs372438825||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||19|chr22:g.29006230_29006232dup|||||||||||||,TTT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+19029_126+19031dup|||||||rs372438825||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||19|chr22:g.29006230_29006232dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTT,TTT,TTT,TTT,TTT,TTT;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=44960;gnomADv4_1_AC_joint_XX=24812;gnomADv4_1_AC_joint_XY=20148;gnomADv4_1_AF_grpmax_joint=0.481859;gnomADv4_1_AF_joint=0.42472;gnomADv4_1_AF_joint_XX=0.432415;gnomADv4_1_AF_joint_XY=0.415611;gnomADv4_1_AN_grpmax_joint=55566;gnomADv4_1_AN_joint=105858;gnomADv4_1_AN_joint_XX=57380;gnomADv4_1_AN_joint_XY=48478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9359;gnomADv4_1_nhomalt_joint_XX=5240;gnomADv4_1_nhomalt_joint_XY=4119;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29006326 chr22_29006326_G_A G A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.747;CADD_Rawscore=-0.092474;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+19125G>A|||||||rs2347789||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29006326G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+19125G>A|||||||rs2347789||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29006326G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-11838G>A|||||||rs2347789||1||HGNC|HGNC:41440|5||||||||Ensembl||G|G||||chr22:g.29006326G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+19125G>A|||||||rs2347789||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29006326G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+19125G>A|||||||rs2347789||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29006326G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+19125G>A|||||||rs2347789||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29006326G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|7|30|-18|30;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=66730;gnomADv4_1_AC_joint_XX=34373;gnomADv4_1_AC_joint_XY=32357;gnomADv4_1_AF_grpmax_joint=0.490739;gnomADv4_1_AF_joint=0.444985;gnomADv4_1_AF_joint_XX=0.447099;gnomADv4_1_AF_joint_XY=0.442761;gnomADv4_1_AN_grpmax_joint=67700;gnomADv4_1_AN_joint=149960;gnomADv4_1_AN_joint_XX=76880;gnomADv4_1_AN_joint_XY=73080;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15135;gnomADv4_1_nhomalt_joint_XX=7847;gnomADv4_1_nhomalt_joint_XY=7288;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29006501 chr22_29006501_C_T C T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.287;CADD_Rawscore=-0.333012;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+19300C>T|||||||rs4333023||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29006501C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+19300C>T|||||||rs4333023||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29006501C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-11663C>T|||||||rs4333023||1||HGNC|HGNC:41440|5||||||||Ensembl||C|C||||chr22:g.29006501C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+19300C>T|||||||rs4333023||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29006501C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+19300C>T|||||||rs4333023||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29006501C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+19300C>T|||||||rs4333023||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29006501C>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|-12|-11|-12|12;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=67094;gnomADv4_1_AC_joint_XX=34472;gnomADv4_1_AC_joint_XY=32622;gnomADv4_1_AF_grpmax_joint=0.49018;gnomADv4_1_AF_joint=0.441675;gnomADv4_1_AF_joint_XX=0.443975;gnomADv4_1_AF_joint_XY=0.439271;gnomADv4_1_AN_grpmax_joint=67920;gnomADv4_1_AN_joint=151908;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15239;gnomADv4_1_nhomalt_joint_XX=7872;gnomADv4_1_nhomalt_joint_XY=7367;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29006631 chr22_29006631_T_A T A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=6.655;CADD_Rawscore=0.621095;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+19430T>A|||||||rs73172431||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29006631T>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+19430T>A|||||||rs73172431||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29006631T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-11533T>A|||||||rs73172431||1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29006631T>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+19430T>A|||||||rs73172431||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29006631T>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+19430T>A|||||||rs73172431||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29006631T>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+19430T>A|||||||rs73172431||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29006631T>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|45|40|18|-35;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=5113;gnomADv4_1_AC_joint_XX=2738;gnomADv4_1_AC_joint_XY=2375;gnomADv4_1_AF_grpmax_joint=0.0680272;gnomADv4_1_AF_joint=0.0335706;gnomADv4_1_AF_joint_XX=0.0351829;gnomADv4_1_AF_joint_XY=0.031886;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152306;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74484;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=130;gnomADv4_1_nhomalt_joint_XX=73;gnomADv4_1_nhomalt_joint_XY=57;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29006844 chr22_29006844_G_T G T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=10.24;CADD_Rawscore=0.992245;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+19643G>T|||||||rs9613768||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29006844G>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+19643G>T|||||||rs9613768||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29006844G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-11320G>T|||||||rs9613768||1||HGNC|HGNC:41440|5||||||||Ensembl||G|G||||chr22:g.29006844G>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+19643G>T|||||||rs9613768||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29006844G>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+19643G>T|||||||rs9613768||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29006844G>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+19643G>T|||||||rs9613768||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29006844G>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|5|0|-14|0;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=46782;gnomADv4_1_AC_joint_XX=23872;gnomADv4_1_AC_joint_XY=22910;gnomADv4_1_AF_grpmax_joint=0.421769;gnomADv4_1_AF_joint=0.307635;gnomADv4_1_AF_joint_XX=0.307004;gnomADv4_1_AF_joint_XY=0.308295;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8794;gnomADv4_1_nhomalt_joint_XX=4500;gnomADv4_1_nhomalt_joint_XY=4294;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29007062 chr22_29007062_C_A C A 60 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=5.69;CADD_Rawscore=0.522168;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+19861C>A|||||||rs8137499||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29007062C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+19861C>A|||||||rs8137499||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29007062C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-11102C>A|||||||rs8137499||1||HGNC|HGNC:41440|5||||||||Ensembl||C|C||||chr22:g.29007062C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+19861C>A|||||||rs8137499||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29007062C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+19861C>A|||||||rs8137499||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29007062C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+19861C>A|||||||rs8137499||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29007062C>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|2|-6|-39|-8;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=85768;gnomADv4_1_AC_joint_XX=44078;gnomADv4_1_AC_joint_XY=41690;gnomADv4_1_AF_grpmax_joint=0.649508;gnomADv4_1_AF_joint=0.564137;gnomADv4_1_AF_joint_XX=0.566934;gnomADv4_1_AF_joint_XY=0.561209;gnomADv4_1_AN_grpmax_joint=41476;gnomADv4_1_AN_joint=152034;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24540;gnomADv4_1_nhomalt_joint_XX=12702;gnomADv4_1_nhomalt_joint_XY=11838;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29007749 chr22_29007749_TTCC_T TTCC T 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=35;CADDIndel_PHREDscore=0.698;CADDIndel_Rawscore=-0.109637;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+20550_126+20552del|||||||rs72016089||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||TCC|TCC||1|1|chr22:g.29007751_29007753del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+20550_126+20552del|||||||rs72016089||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||TCC|TCC||1|1|chr22:g.29007751_29007753del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-10413_218-10411del|||||||rs72016089||1||HGNC|HGNC:41440|5||||||||Ensembl||TCC|TCC|||1|chr22:g.29007751_29007753del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+20550_426+20552del|||||||rs72016089||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||TCC|TCC||1|1|chr22:g.29007751_29007753del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+20550_426+20552del|||||||rs72016089||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||TCC|TCC|||1|chr22:g.29007751_29007753del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+20550_126+20552del|||||||rs72016089||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||TCC|TCC|||1|chr22:g.29007751_29007753del|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|29|33|-28|17;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=36171;gnomADv4_1_AC_joint_XX=19345;gnomADv4_1_AC_joint_XY=16826;gnomADv4_1_AF_grpmax_joint=0.394958;gnomADv4_1_AF_joint=0.286635;gnomADv4_1_AF_joint_XX=0.292778;gnomADv4_1_AF_joint_XY=0.279883;gnomADv4_1_AN_grpmax_joint=238;gnomADv4_1_AN_joint=126192;gnomADv4_1_AN_joint_XX=66074;gnomADv4_1_AN_joint_XY=60118;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6343;gnomADv4_1_nhomalt_joint_XX=3329;gnomADv4_1_nhomalt_joint_XY=3014;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29007755 chr22_29007755_T_C T C 40 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=40;CADD_PHREDscore=2.722;CADD_Rawscore=0.247034;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+20554T>C|||||||rs34210550||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29007755T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+20554T>C|||||||rs34210550||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29007755T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-10409T>C|||||||rs34210550||1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29007755T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+20554T>C|||||||rs34210550||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29007755T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+20554T>C|||||||rs34210550||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29007755T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+20554T>C|||||||rs34210550||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29007755T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-34|27|19|2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=36184;gnomADv4_1_AC_joint_XX=19381;gnomADv4_1_AC_joint_XY=16803;gnomADv4_1_AF_grpmax_joint=0.383065;gnomADv4_1_AF_joint=0.274171;gnomADv4_1_AF_joint_XX=0.279644;gnomADv4_1_AF_joint_XY=0.268119;gnomADv4_1_AN_grpmax_joint=248;gnomADv4_1_AN_joint=131976;gnomADv4_1_AN_joint_XX=69306;gnomADv4_1_AN_joint_XY=62670;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6333;gnomADv4_1_nhomalt_joint_XX=3327;gnomADv4_1_nhomalt_joint_XY=3006;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29008663 chr22_29008663_A_G A G 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=3.164;CADD_Rawscore=0.289938;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+21462A>G|||||||rs9608719||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29008663A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+21462A>G|||||||rs9608719||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29008663A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-9501A>G|||||||rs9608719||1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.29008663A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+21462A>G|||||||rs9608719||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29008663A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+21462A>G|||||||rs9608719||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29008663A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+21462A>G|||||||rs9608719||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29008663A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-48|44|9|-10;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=77692;gnomADv4_1_AC_joint_XX=39732;gnomADv4_1_AC_joint_XY=37960;gnomADv4_1_AF_grpmax_joint=0.555684;gnomADv4_1_AF_joint=0.511011;gnomADv4_1_AF_joint_XX=0.511299;gnomADv4_1_AF_joint_XY=0.510709;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152036;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=20024;gnomADv4_1_nhomalt_joint_XX=10277;gnomADv4_1_nhomalt_joint_XY=9747;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29009905 chr22_29009905_C_CTT C CTT 41 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=41;CADDIndel_PHREDscore=1.06;CADDIndel_Rawscore=-0.002725;CSQ=TT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+22722_126+22723dup|||||||rs57028204||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|19|chr22:g.29009923_29009924dup|||||||||||||,TT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+22722_126+22723dup|||||||rs57028204||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|19|chr22:g.29009923_29009924dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-8241_218-8240dup|||||||rs57028204||1||HGNC|HGNC:41440|5||||||||Ensembl||||||19|chr22:g.29009923_29009924dup|||||||||||||,TT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+22722_426+22723dup|||||||rs57028204||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|19|chr22:g.29009923_29009924dup|||||||||||||,TT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+22722_426+22723dup|||||||rs57028204||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||19|chr22:g.29009923_29009924dup|||||||||||||,TT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+22722_126+22723dup|||||||rs57028204||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||19|chr22:g.29009923_29009924dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=43994;gnomADv4_1_AC_joint_XX=23957;gnomADv4_1_AC_joint_XY=20037;gnomADv4_1_AF_grpmax_joint=0.401608;gnomADv4_1_AF_joint=0.356446;gnomADv4_1_AF_joint_XX=0.363878;gnomADv4_1_AF_joint_XY=0.347949;gnomADv4_1_AN_grpmax_joint=61204;gnomADv4_1_AN_joint=123424;gnomADv4_1_AN_joint_XX=65838;gnomADv4_1_AN_joint_XY=57586;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8618;gnomADv4_1_nhomalt_joint_XX=4704;gnomADv4_1_nhomalt_joint_XY=3914;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29009968 chr22_29009968_T_G T G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.228;CADD_Rawscore=-0.392316;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+22767T>G|||||||rs4580479||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29009968T>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+22767T>G|||||||rs4580479||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29009968T>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-8196T>G|||||||rs4580479||1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29009968T>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+22767T>G|||||||rs4580479||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29009968T>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+22767T>G|||||||rs4580479||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29009968T>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+22767T>G|||||||rs4580479||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29009968T>G|||1||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-36|-16|-36|-42;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=83568;gnomADv4_1_AC_joint_XX=43315;gnomADv4_1_AC_joint_XY=40253;gnomADv4_1_AF_grpmax_joint=0.648184;gnomADv4_1_AF_joint=0.565237;gnomADv4_1_AF_joint_XX=0.568782;gnomADv4_1_AF_joint_XY=0.561471;gnomADv4_1_AN_grpmax_joint=39802;gnomADv4_1_AN_joint=147846;gnomADv4_1_AN_joint_XX=76154;gnomADv4_1_AN_joint_XY=71692;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23960;gnomADv4_1_nhomalt_joint_XX=12515;gnomADv4_1_nhomalt_joint_XY=11445;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29010067 chr22_29010067_T_C T C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.006;CADD_Rawscore=-0.016325;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+22866T>C|||||||rs4594553||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29010067T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+22866T>C|||||||rs4594553||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29010067T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-8097T>C|||||||rs4594553||1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29010067T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+22866T>C|||||||rs4594553||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29010067T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+22866T>C|||||||rs4594553||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29010067T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+22866T>C|||||||rs4594553||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29010067T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|31|29|-4|26;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=68085;gnomADv4_1_AC_joint_XX=35038;gnomADv4_1_AC_joint_XY=33047;gnomADv4_1_AF_grpmax_joint=0.500826;gnomADv4_1_AF_joint=0.450476;gnomADv4_1_AF_joint_XX=0.453179;gnomADv4_1_AF_joint_XY=0.447646;gnomADv4_1_AN_grpmax_joint=67798;gnomADv4_1_AN_joint=151140;gnomADv4_1_AN_joint_XX=77316;gnomADv4_1_AN_joint_XY=73824;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15728;gnomADv4_1_nhomalt_joint_XX=8162;gnomADv4_1_nhomalt_joint_XY=7566;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29010088 chr22_29010088_T_G T G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=5.764;CADD_Rawscore=0.529483;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+22887T>G|||||||rs4616575||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29010088T>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+22887T>G|||||||rs4616575||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29010088T>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-8076T>G|||||||rs4616575||1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29010088T>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+22887T>G|||||||rs4616575||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29010088T>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+22887T>G|||||||rs4616575||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29010088T>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+22887T>G|||||||rs4616575||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29010088T>G|||1||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|10|8|-1|5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=67392;gnomADv4_1_AC_joint_XX=34676;gnomADv4_1_AC_joint_XY=32716;gnomADv4_1_AF_grpmax_joint=0.495088;gnomADv4_1_AF_joint=0.445078;gnomADv4_1_AF_joint_XX=0.447848;gnomADv4_1_AF_joint_XY=0.44218;gnomADv4_1_AN_grpmax_joint=67794;gnomADv4_1_AN_joint=151416;gnomADv4_1_AN_joint_XX=77428;gnomADv4_1_AN_joint_XY=73988;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15400;gnomADv4_1_nhomalt_joint_XX=7984;gnomADv4_1_nhomalt_joint_XY=7416;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29010201 chr22_29010201_A_G A G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.226;CADD_Rawscore=-0.394566;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+23000A>G|||||||rs4404379||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29010201A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+23000A>G|||||||rs4404379||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29010201A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-7963A>G|||||||rs4404379||1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.29010201A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+23000A>G|||||||rs4404379||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29010201A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+23000A>G|||||||rs4404379||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29010201A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+23000A>G|||||||rs4404379||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29010201A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|47|32|-14|-30;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=73548;gnomADv4_1_AC_joint_XX=37835;gnomADv4_1_AC_joint_XY=35713;gnomADv4_1_AF_grpmax_joint=0.509427;gnomADv4_1_AF_joint=0.484947;gnomADv4_1_AF_joint_XX=0.487954;gnomADv4_1_AF_joint_XY=0.481801;gnomADv4_1_AN_grpmax_joint=67890;gnomADv4_1_AN_joint=151662;gnomADv4_1_AN_joint_XX=77538;gnomADv4_1_AN_joint_XY=74124;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=18028;gnomADv4_1_nhomalt_joint_XX=9363;gnomADv4_1_nhomalt_joint_XY=8665;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29010784 chr22_29010784_T_C T C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.674;CADD_Rawscore=-0.11849;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+23583T>C|||||||rs6005954||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29010784T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+23583T>C|||||||rs6005954||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29010784T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-7380T>C|||||||rs6005954||1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29010784T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+23583T>C|||||||rs6005954||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29010784T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+23583T>C|||||||rs6005954||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29010784T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+23583T>C|||||||rs6005954||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29010784T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|28|-19|29|-20;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=86943;gnomADv4_1_AC_joint_XX=44675;gnomADv4_1_AC_joint_XY=42268;gnomADv4_1_AF_grpmax_joint=0.653418;gnomADv4_1_AF_joint=0.571896;gnomADv4_1_AF_joint_XX=0.574983;gnomADv4_1_AF_joint_XY=0.568669;gnomADv4_1_AN_grpmax_joint=41462;gnomADv4_1_AN_joint=152026;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25208;gnomADv4_1_nhomalt_joint_XX=13051;gnomADv4_1_nhomalt_joint_XY=12157;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29012431 chr22_29012431_T_C T C 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=4.499;CADD_Rawscore=0.40982;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+25230T>C|||||||rs4140643||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29012431T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+25230T>C|||||||rs4140643||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29012431T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-5733T>C|||||||rs4140643||1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29012431T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+25230T>C|||||||rs4140643||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29012431T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+25230T>C|||||||rs4140643||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29012431T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+25230T>C|||||||rs4140643||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29012431T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|23|13|22|-13;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=74574;gnomADv4_1_AC_joint_XX=38134;gnomADv4_1_AC_joint_XY=36440;gnomADv4_1_AF_grpmax_joint=0.524278;gnomADv4_1_AF_joint=0.490161;gnomADv4_1_AF_joint_XX=0.490331;gnomADv4_1_AF_joint_XY=0.489983;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=18639;gnomADv4_1_nhomalt_joint_XX=9573;gnomADv4_1_nhomalt_joint_XY=9066;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29012606 chr22_29012606_A_G A G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.18;CADD_Rawscore=-0.455272;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+25405A>G|||||||rs7290304||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29012606A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+25405A>G|||||||rs7290304||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29012606A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-5558A>G|||||||rs7290304||1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.29012606A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+25405A>G|||||||rs7290304||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29012606A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+25405A>G|||||||rs7290304||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29012606A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+25405A>G|||||||rs7290304||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29012606A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-33|35|24|-2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=86899;gnomADv4_1_AC_joint_XX=44686;gnomADv4_1_AC_joint_XY=42213;gnomADv4_1_AF_grpmax_joint=0.652424;gnomADv4_1_AF_joint=0.571403;gnomADv4_1_AF_joint_XX=0.574769;gnomADv4_1_AF_joint_XY=0.567883;gnomADv4_1_AN_grpmax_joint=41496;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25173;gnomADv4_1_nhomalt_joint_XX=13049;gnomADv4_1_nhomalt_joint_XY=12124;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29013978 chr22_29013978_T_C T C 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.445;CADD_Rawscore=0.078243;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+26777T>C|||||||rs17440734||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29013978T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+26777T>C|||||||rs17440734||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29013978T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-4186T>C|||||||rs17440734||1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29013978T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+26777T>C|||||||rs17440734||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29013978T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+26777T>C|||||||rs17440734||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29013978T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+26777T>C|||||||rs17440734||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29013978T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-15|39|26|-20;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=80428;gnomADv4_1_AC_joint_XX=41519;gnomADv4_1_AC_joint_XY=38909;gnomADv4_1_AF_grpmax_joint=0.571821;gnomADv4_1_AF_joint=0.528888;gnomADv4_1_AF_joint_XX=0.534089;gnomADv4_1_AF_joint_XY=0.523449;gnomADv4_1_AN_grpmax_joint=41464;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=21473;gnomADv4_1_nhomalt_joint_XX=11213;gnomADv4_1_nhomalt_joint_XY=10260;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29014116 chr22_29014116_T_C T C 58 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.211;CADD_Rawscore=0.032069;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+26915T>C|||||||rs4823002||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29014116T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+26915T>C|||||||rs4823002||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29014116T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-4048T>C|||||||rs4823002||1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29014116T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+26915T>C|||||||rs4823002||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29014116T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+26915T>C|||||||rs4823002||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29014116T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+26915T>C|||||||rs4823002||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29014116T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-49|11|-49|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=75607;gnomADv4_1_AC_joint_XX=38677;gnomADv4_1_AC_joint_XY=36930;gnomADv4_1_AF_grpmax_joint=0.51866;gnomADv4_1_AF_joint=0.497401;gnomADv4_1_AF_joint_XX=0.497761;gnomADv4_1_AF_joint_XY=0.497026;gnomADv4_1_AN_grpmax_joint=67954;gnomADv4_1_AN_joint=152004;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=19033;gnomADv4_1_nhomalt_joint_XX=9785;gnomADv4_1_nhomalt_joint_XY=9248;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29014244 chr22_29014244_A_C A C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=12.07;CADD_Rawscore=1.18374;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+27043A>C|||||||rs4823003||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29014244A>C|||1||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+27043A>C|||||||rs4823003||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29014244A>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-3920A>C|||||||rs4823003||1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.29014244A>C|||1||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+27043A>C|||||||rs4823003||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29014244A>C|||1||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+27043A>C|||||||rs4823003||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29014244A>C|||1||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+27043A>C|||||||rs4823003||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29014244A>C|||1||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|42|-38|-6|-38;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=86802;gnomADv4_1_AC_joint_XX=44619;gnomADv4_1_AC_joint_XY=42183;gnomADv4_1_AF_grpmax_joint=0.652912;gnomADv4_1_AF_joint=0.571532;gnomADv4_1_AF_joint_XX=0.574691;gnomADv4_1_AF_joint_XY=0.568228;gnomADv4_1_AN_grpmax_joint=41416;gnomADv4_1_AN_joint=151876;gnomADv4_1_AN_joint_XX=77640;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25137;gnomADv4_1_nhomalt_joint_XX=13024;gnomADv4_1_nhomalt_joint_XY=12113;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29014687 chr22_29014687_A_T A T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.741;CADD_Rawscore=-0.094476;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.126+27486A>T|||||||rs6005955||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29014687A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.126+27486A>T|||||||rs6005955||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29014687A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-3477A>T|||||||rs6005955||1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.29014687A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.426+27486A>T|||||||rs6005955||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29014687A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.426+27486A>T|||||||rs6005955||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29014687A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.126+27486A>T|||||||rs6005955||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29014687A>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|-19|2|6|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=71907;gnomADv4_1_AC_joint_XX=36946;gnomADv4_1_AC_joint_XY=34961;gnomADv4_1_AF_grpmax_joint=0.513506;gnomADv4_1_AF_joint=0.472768;gnomADv4_1_AF_joint_XX=0.475251;gnomADv4_1_AF_joint_XY=0.470171;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=17337;gnomADv4_1_nhomalt_joint_XX=8994;gnomADv4_1_nhomalt_joint_XY=8343;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29015279 chr22_29015279_A_G A G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=7.763;CADD_Rawscore=0.742381;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-27216A>G|||||||rs6005956||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29015279A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-27216A>G|||||||rs6005956||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29015279A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-2885A>G|||||||rs6005956||1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.29015279A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-27216A>G|||||||rs6005956||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29015279A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-27216A>G|||||||rs6005956||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29015279A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-27216A>G|||||||rs6005956||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29015279A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|39|12|-1|-37;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=66966;gnomADv4_1_AC_joint_XX=34377;gnomADv4_1_AC_joint_XY=32589;gnomADv4_1_AF_grpmax_joint=0.495336;gnomADv4_1_AF_joint=0.440236;gnomADv4_1_AF_joint_XX=0.442228;gnomADv4_1_AF_joint_XY=0.438154;gnomADv4_1_AN_grpmax_joint=67974;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15253;gnomADv4_1_nhomalt_joint_XX=7863;gnomADv4_1_nhomalt_joint_XY=7390;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29015398 chr22_29015398_G_A G A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.132;CADD_Rawscore=-0.536722;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-27097G>A|||||||rs113511441||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29015398G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-27097G>A|||||||rs113511441||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29015398G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-2766G>A|||||||rs113511441||1||HGNC|HGNC:41440|5||||||||Ensembl||G|G||||chr22:g.29015398G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-27097G>A|||||||rs113511441||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29015398G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-27097G>A|||||||rs113511441||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29015398G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-27097G>A|||||||rs113511441||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29015398G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|2|-9|2|40;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=10;gnomADv4_1_AC_joint_XX=7;gnomADv4_1_AC_joint_XY=3;gnomADv4_1_AF_grpmax_joint=0.000207383;gnomADv4_1_AF_joint=6.56849e-05;gnomADv4_1_AF_joint_XX=8.99581e-05;gnomADv4_1_AF_joint_XY=4.03074e-05;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152242;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29015627 chr22_29015627_A_G A G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=0.289;CADD_Rawscore=-0.331727;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-26868A>G|||||||rs9613771||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29015627A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-26868A>G|||||||rs9613771||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29015627A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-2537A>G|||||||rs9613771||1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.29015627A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-26868A>G|||||||rs9613771||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29015627A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-26868A>G|||||||rs9613771||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29015627A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-26868A>G|||||||rs9613771||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29015627A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|44|27|27|19;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=69586;gnomADv4_1_AC_joint_XX=35875;gnomADv4_1_AC_joint_XY=33711;gnomADv4_1_AF_grpmax_joint=0.508962;gnomADv4_1_AF_joint=0.465396;gnomADv4_1_AF_joint_XX=0.467768;gnomADv4_1_AF_joint_XY=0.462898;gnomADv4_1_AN_grpmax_joint=67506;gnomADv4_1_AN_joint=149520;gnomADv4_1_AN_joint_XX=76694;gnomADv4_1_AN_joint_XY=72826;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16531;gnomADv4_1_nhomalt_joint_XX=8616;gnomADv4_1_nhomalt_joint_XY=7915;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29015668 chr22_29015668_TA_T TA T 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=34;CADDIndel_PHREDscore=0.007;CADDIndel_Rawscore=-1.35538;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-26808del|||||||rs56728614||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1|18|chr22:g.29015687del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-26808del|||||||rs56728614||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1|18|chr22:g.29015687del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-2477del|||||||rs56728614||1||HGNC|HGNC:41440|5||||||||Ensembl||A|A|||18|chr22:g.29015687del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-26808del|||||||rs56728614||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1|18|chr22:g.29015687del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-26808del|||||||rs56728614||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A|||18|chr22:g.29015687del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-26808del|||||||rs56728614||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A|||18|chr22:g.29015687del|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|-14|29|-14|-22;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=72269;gnomADv4_1_AC_joint_XX=37768;gnomADv4_1_AC_joint_XY=34501;gnomADv4_1_AF_grpmax_joint=0.535773;gnomADv4_1_AF_joint=0.51898;gnomADv4_1_AF_joint_XX=0.524308;gnomADv4_1_AF_joint_XY=0.51327;gnomADv4_1_AN_grpmax_joint=64322;gnomADv4_1_AN_joint=139252;gnomADv4_1_AN_joint_XX=72034;gnomADv4_1_AN_joint_XY=67218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=18129;gnomADv4_1_nhomalt_joint_XX=9589;gnomADv4_1_nhomalt_joint_XY=8540;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29015670 chr22_29015670_A_C A C 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.21;CADD_Rawscore=0.031731;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-26825A>C|||||||rs201793203||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29015670A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-26825A>C|||||||rs201793203||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29015670A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-2494A>C|||||||rs201793203||1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.29015670A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-26825A>C|||||||rs201793203||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29015670A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-26825A>C|||||||rs201793203||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29015670A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-26825A>C|||||||rs201793203||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29015670A>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|44|27|-24|-16;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=63286;gnomADv4_1_AC_joint_XX=32942;gnomADv4_1_AC_joint_XY=30344;gnomADv4_1_AF_grpmax_joint=0.510245;gnomADv4_1_AF_joint=0.480262;gnomADv4_1_AF_joint_XX=0.48494;gnomADv4_1_AF_joint_XY=0.475284;gnomADv4_1_AN_grpmax_joint=63738;gnomADv4_1_AN_joint=131774;gnomADv4_1_AN_joint_XX=67930;gnomADv4_1_AN_joint_XY=63844;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13980;gnomADv4_1_nhomalt_joint_XX=7363;gnomADv4_1_nhomalt_joint_XY=6617;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29016014 chr22_29016014_C_CA C CA 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.503;CADDIndel_Rawscore=-0.191884;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-26466dup|||||||rs34796724||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|15|chr22:g.29016029dup|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-26466dup|||||||rs34796724||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|15|chr22:g.29016029dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-2135dup|||||||rs34796724||1||HGNC|HGNC:41440|5||||||||Ensembl||||||15|chr22:g.29016029dup|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-26466dup|||||||rs34796724||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|15|chr22:g.29016029dup|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-26466dup|||||||rs34796724||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||15|chr22:g.29016029dup|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-26466dup|||||||rs34796724||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||15|chr22:g.29016029dup|||||||||||||;SpliceAI=CA|ZNRF3|0.00|0.00|0.00|0.00|0|10|-5|47;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=40439;gnomADv4_1_AC_joint_XX=21898;gnomADv4_1_AC_joint_XY=18541;gnomADv4_1_AF_grpmax_joint=0.446749;gnomADv4_1_AF_joint=0.405347;gnomADv4_1_AF_joint_XX=0.410382;gnomADv4_1_AF_joint_XY=0.399556;gnomADv4_1_AN_grpmax_joint=3568;gnomADv4_1_AN_joint=99764;gnomADv4_1_AN_joint_XX=53360;gnomADv4_1_AN_joint_XY=46404;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6866;gnomADv4_1_nhomalt_joint_XX=3770;gnomADv4_1_nhomalt_joint_XY=3096;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29016030 chr22_29016030_C_A C A 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.336;CADD_Rawscore=0.05781;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-26465C>A|||||||rs6005957||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29016030C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-26465C>A|||||||rs6005957||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29016030C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-2134C>A|||||||rs6005957||1||HGNC|HGNC:41440|5||||||||Ensembl||C|C||||chr22:g.29016030C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-26465C>A|||||||rs6005957||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29016030C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-26465C>A|||||||rs6005957||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29016030C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-26465C>A|||||||rs6005957||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29016030C>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|15|45|-21|34;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=73665;gnomADv4_1_AC_joint_XX=38731;gnomADv4_1_AC_joint_XY=34934;gnomADv4_1_AF_grpmax_joint=0.589356;gnomADv4_1_AF_joint=0.538944;gnomADv4_1_AF_joint_XX=0.544755;gnomADv4_1_AF_joint_XY=0.532644;gnomADv4_1_AN_grpmax_joint=35532;gnomADv4_1_AN_joint=136684;gnomADv4_1_AN_joint_XX=71098;gnomADv4_1_AN_joint_XY=65586;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=19697;gnomADv4_1_nhomalt_joint_XX=10481;gnomADv4_1_nhomalt_joint_XY=9216;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29016269 chr22_29016269_T_C T C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.688;CADD_Rawscore=0.119143;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-26226T>C|||||||rs2064084||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29016269T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-26226T>C|||||||rs2064084||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29016269T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-1895T>C|||||||rs2064084||1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29016269T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-26226T>C|||||||rs2064084||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29016269T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-26226T>C|||||||rs2064084||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29016269T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-26226T>C|||||||rs2064084||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29016269T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|21|-2|21|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=81396;gnomADv4_1_AC_joint_XX=42030;gnomADv4_1_AC_joint_XY=39366;gnomADv4_1_AF_grpmax_joint=0.595965;gnomADv4_1_AF_joint=0.535711;gnomADv4_1_AF_joint_XX=0.541108;gnomADv4_1_AF_joint_XY=0.530068;gnomADv4_1_AN_grpmax_joint=41442;gnomADv4_1_AN_joint=151940;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22072;gnomADv4_1_nhomalt_joint_XX=11529;gnomADv4_1_nhomalt_joint_XY=10543;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29016428 chr22_29016428_TCTA_T TCTA T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=5.335;CADDIndel_Rawscore=0.487618;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-26063_127-26061del|||||||rs3037486||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||CTA|CTA||1|3|chr22:g.29016432_29016434del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-26063_127-26061del|||||||rs3037486||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||CTA|CTA||1|3|chr22:g.29016432_29016434del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-1732_218-1730del|||||||rs3037486||1||HGNC|HGNC:41440|5||||||||Ensembl||CTA|CTA|||3|chr22:g.29016432_29016434del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-26063_427-26061del|||||||rs3037486||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||CTA|CTA||1|3|chr22:g.29016432_29016434del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-26063_427-26061del|||||||rs3037486||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||CTA|CTA|||3|chr22:g.29016432_29016434del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-26063_127-26061del|||||||rs3037486||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||CTA|CTA|||3|chr22:g.29016432_29016434del|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|9|-28|-27|2;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=66024;gnomADv4_1_AC_joint_XX=33915;gnomADv4_1_AC_joint_XY=32109;gnomADv4_1_AF_grpmax_joint=0.494418;gnomADv4_1_AF_joint=0.434815;gnomADv4_1_AF_joint_XX=0.436756;gnomADv4_1_AF_joint_XY=0.432783;gnomADv4_1_AN_grpmax_joint=67900;gnomADv4_1_AN_joint=151844;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74192;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14903;gnomADv4_1_nhomalt_joint_XX=7695;gnomADv4_1_nhomalt_joint_XY=7208;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29017317 chr22_29017317_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.002;CADD_Rawscore=-1.97553;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-25178G>A|||||||rs964589||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29017317G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-25178G>A|||||||rs964589||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29017317G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-847G>A|||||||rs964589||1||HGNC|HGNC:41440|5||||||||Ensembl||G|G||||chr22:g.29017317G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-25178G>A|||||||rs964589||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29017317G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-25178G>A|||||||rs964589||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29017317G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-25178G>A|||||||rs964589||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29017317G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|13|-40|-3|-47;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=66266;gnomADv4_1_AC_joint_XX=34016;gnomADv4_1_AC_joint_XY=32250;gnomADv4_1_AF_grpmax_joint=0.49388;gnomADv4_1_AF_joint=0.4358;gnomADv4_1_AF_joint_XX=0.437381;gnomADv4_1_AF_joint_XY=0.434145;gnomADv4_1_AN_grpmax_joint=67970;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14980;gnomADv4_1_nhomalt_joint_XX=7725;gnomADv4_1_nhomalt_joint_XY=7255;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29017797 chr22_29017797_A_G A G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.176;CADD_Rawscore=0.291077;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-24698A>G|||||||rs4823005||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29017797A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-24698A>G|||||||rs4823005||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29017797A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-367A>G|||||||rs4823005||1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.29017797A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-24698A>G|||||||rs4823005||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29017797A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-24698A>G|||||||rs4823005||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29017797A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-24698A>G|||||||rs4823005||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29017797A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.05|0.00|-1|48|-1|48;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=86101;gnomADv4_1_AC_joint_XX=44234;gnomADv4_1_AC_joint_XY=41867;gnomADv4_1_AF_grpmax_joint=0.637401;gnomADv4_1_AF_joint=0.566707;gnomADv4_1_AF_joint_XX=0.569468;gnomADv4_1_AF_joint_XY=0.56382;gnomADv4_1_AN_grpmax_joint=41448;gnomADv4_1_AN_joint=151932;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24699;gnomADv4_1_nhomalt_joint_XX=12790;gnomADv4_1_nhomalt_joint_XY=11909;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29018013 chr22_29018013_A_G A G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.523;CADD_Rawscore=0.411988;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-24482A>G|||||||rs2347790||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29018013A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-24482A>G|||||||rs2347790||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29018013A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||1/1|ENST00000412798.1:n.218-151A>G|||||||rs2347790||1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.29018013A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-24482A>G|||||||rs2347790||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29018013A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-24482A>G|||||||rs2347790||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29018013A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-24482A>G|||||||rs2347790||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29018013A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|1|9|1|-15;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=233863;gnomADv4_1_AC_joint_XX=106351;gnomADv4_1_AC_joint_XY=127512;gnomADv4_1_AF_grpmax_joint=0.503133;gnomADv4_1_AF_joint=0.4513;gnomADv4_1_AF_joint_XX=0.454596;gnomADv4_1_AF_joint_XY=0.448588;gnomADv4_1_AN_grpmax_joint=259510;gnomADv4_1_AN_joint=518198;gnomADv4_1_AN_joint_XX=233946;gnomADv4_1_AN_joint_XY=284252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=54370;gnomADv4_1_nhomalt_joint_XX=24854;gnomADv4_1_nhomalt_joint_XY=29516;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29020249 chr22_29020249_CT_C;chr22_29020249_C_CTTT;chr22_29020249_C_CTT CT C 22 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=22;CADDIndel_PHREDscore=0.51;CADDIndel_Rawscore=-0.188374;CSQ=-|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs756716817|4749|-1||HGNC|HGNC:41927|2||||||||Ensembl||T|T||||chr22:g.29020273del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-22222del|||||||rs756716817||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1|23|chr22:g.29020273del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-22222del|||||||rs756716817||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1|23|chr22:g.29020273del|||||||||||||,-|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs756716817|1630|1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29020273del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-22222del|||||||rs756716817||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1|23|chr22:g.29020273del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-22222del|||||||rs756716817||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T|||23|chr22:g.29020273del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-22222del|||||||rs756716817||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T|||23|chr22:g.29020273del|||||||||||||,-|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs756716817|4749|-1||EntrezGene|HGNC:41927|||||||||RefSeq||T|T||||chr22:g.29020273del|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|33|-16|11|10;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2914;gnomADv4_1_AC_joint_XX=1581;gnomADv4_1_AC_joint_XY=1333;gnomADv4_1_AF_grpmax_joint=0.083947;gnomADv4_1_AF_joint=0.031781;gnomADv4_1_AF_joint_XX=0.0313442;gnomADv4_1_AF_joint_XY=0.0323152;gnomADv4_1_AN_grpmax_joint=2716;gnomADv4_1_AN_joint=91690;gnomADv4_1_AN_joint_XX=50440;gnomADv4_1_AN_joint_XY=41250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46;gnomADv4_1_nhomalt_joint_XX=23;gnomADv4_1_nhomalt_joint_XY=23;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29020249 chr22_29020249_CT_C;chr22_29020249_C_CTTT;chr22_29020249_C_CTT C CTTT 22 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=22;CADDIndel_PHREDscore=0.614;CADDIndel_Rawscore=-0.141923;CSQ=TTT|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs756716817|4749|-1||HGNC|HGNC:41927|2||||||||Ensembl|||||||chr22:g.29020271_29020273dup|||||||||||||,TTT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-22224_127-22222dup|||||||rs756716817||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|24|chr22:g.29020271_29020273dup|||||||||||||,TTT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-22224_127-22222dup|||||||rs756716817||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|24|chr22:g.29020271_29020273dup|||||||||||||,TTT|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs756716817|1629|1||HGNC|HGNC:41440|5||||||||Ensembl|||||||chr22:g.29020271_29020273dup|||||||||||||,TTT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-22224_427-22222dup|||||||rs756716817||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|24|chr22:g.29020271_29020273dup|||||||||||||,TTT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-22224_427-22222dup|||||||rs756716817||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||24|chr22:g.29020271_29020273dup|||||||||||||,TTT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-22224_127-22222dup|||||||rs756716817||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||24|chr22:g.29020271_29020273dup|||||||||||||,TTT|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs756716817|4749|-1||EntrezGene|HGNC:41927|||||||||RefSeq|||||||chr22:g.29020271_29020273dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10778;gnomADv4_1_AC_joint_XX=6101;gnomADv4_1_AC_joint_XY=4677;gnomADv4_1_AF_grpmax_joint=0.15558;gnomADv4_1_AF_joint=0.118079;gnomADv4_1_AF_joint_XX=0.121442;gnomADv4_1_AF_joint_XY=0.113962;gnomADv4_1_AN_grpmax_joint=2706;gnomADv4_1_AN_joint=91278;gnomADv4_1_AN_joint_XX=50238;gnomADv4_1_AN_joint_XY=41040;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=843;gnomADv4_1_nhomalt_joint_XX=459;gnomADv4_1_nhomalt_joint_XY=384;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29020249 chr22_29020249_CT_C;chr22_29020249_C_CTTT;chr22_29020249_C_CTT C CTT 22 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=11;CADDIndel_PHREDscore=0.625;CADDIndel_Rawscore=-0.137534;CSQ=TT|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs756716817|4749|-1||HGNC|HGNC:41927|2||||||||Ensembl|||||||chr22:g.29020272_29020273dup|||||||||||||,TT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-22223_127-22222dup|||||||rs756716817||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|24|chr22:g.29020272_29020273dup|||||||||||||,TT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-22223_127-22222dup|||||||rs756716817||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|24|chr22:g.29020272_29020273dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs756716817|1629|1||HGNC|HGNC:41440|5||||||||Ensembl|||||||chr22:g.29020272_29020273dup|||||||||||||,TT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-22223_427-22222dup|||||||rs756716817||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|24|chr22:g.29020272_29020273dup|||||||||||||,TT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-22223_427-22222dup|||||||rs756716817||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||24|chr22:g.29020272_29020273dup|||||||||||||,TT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-22223_127-22222dup|||||||rs756716817||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||24|chr22:g.29020272_29020273dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs756716817|4749|-1||EntrezGene|HGNC:41927|||||||||RefSeq|||||||chr22:g.29020272_29020273dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11925;gnomADv4_1_AC_joint_XX=6910;gnomADv4_1_AC_joint_XY=5015;gnomADv4_1_AF_grpmax_joint=0.182679;gnomADv4_1_AF_joint=0.13047;gnomADv4_1_AF_joint_XX=0.13748;gnomADv4_1_AF_joint_XY=0.121907;gnomADv4_1_AN_grpmax_joint=49628;gnomADv4_1_AN_joint=91400;gnomADv4_1_AN_joint_XX=50262;gnomADv4_1_AN_joint_XY=41138;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1128;gnomADv4_1_nhomalt_joint_XX=657;gnomADv4_1_nhomalt_joint_XY=471;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29020759 chr22_29020759_GTT_G GTT G 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.382;CADDIndel_Rawscore=-0.260779;CSQ=-|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs762825720|4238|-1||HGNC|HGNC:41927|2||||||||Ensembl||TT|TT||||chr22:g.29020763_29020764del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-21732_127-21731del|||||||rs762825720||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||TT|TT||1|3|chr22:g.29020763_29020764del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-21732_127-21731del|||||||rs762825720||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||TT|TT||1|3|chr22:g.29020763_29020764del|||||||||||||,-|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs762825720|2140|1||HGNC|HGNC:41440|5||||||||Ensembl||TT|TT||||chr22:g.29020763_29020764del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-21732_427-21731del|||||||rs762825720||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||TT|TT||1|3|chr22:g.29020763_29020764del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-21732_427-21731del|||||||rs762825720||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||TT|TT|||3|chr22:g.29020763_29020764del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-21732_127-21731del|||||||rs762825720||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||TT|TT|||3|chr22:g.29020763_29020764del|||||||||||||,-|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs762825720|4238|-1||EntrezGene|HGNC:41927|||||||||RefSeq||TT|TT||||chr22:g.29020763_29020764del|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-20|18|39|7;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55342;gnomADv4_1_AC_joint_XX=28444;gnomADv4_1_AC_joint_XY=26898;gnomADv4_1_AF_grpmax_joint=0.478124;gnomADv4_1_AF_joint=0.395798;gnomADv4_1_AF_joint_XX=0.397096;gnomADv4_1_AF_joint_XY=0.394434;gnomADv4_1_AN_grpmax_joint=66556;gnomADv4_1_AN_joint=139824;gnomADv4_1_AN_joint_XX=71630;gnomADv4_1_AN_joint_XY=68194;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11862;gnomADv4_1_nhomalt_joint_XX=6138;gnomADv4_1_nhomalt_joint_XY=5724;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29020766 chr22_29020766_TGTGTGTGTGG_T TGTGTGTGTGG T 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=43;CADDIndel_PHREDscore=0.906;CADDIndel_Rawscore=-0.043146;CSQ=-|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs879914495|4223|-1||HGNC|HGNC:41927|2||||||||Ensembl||GTGTGTGTGG|GTGTGTGTGG||||chr22:g.29020776_29020785del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-21719_127-21710del|||||||rs879914495||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||GTGTGTGTGG|GTGTGTGTGG||1|9|chr22:g.29020776_29020785del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-21719_127-21710del|||||||rs879914495||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||GTGTGTGTGG|GTGTGTGTGG||1|9|chr22:g.29020776_29020785del|||||||||||||,-|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs879914495|2147|1||HGNC|HGNC:41440|5||||||||Ensembl||GTGTGTGTGG|GTGTGTGTGG||||chr22:g.29020776_29020785del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-21719_427-21710del|||||||rs879914495||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||GTGTGTGTGG|GTGTGTGTGG||1|9|chr22:g.29020776_29020785del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-21719_427-21710del|||||||rs879914495||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||GTGTGTGTGG|GTGTGTGTGG|||9|chr22:g.29020776_29020785del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-21719_127-21710del|||||||rs879914495||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||GTGTGTGTGG|GTGTGTGTGG|||9|chr22:g.29020776_29020785del|||||||||||||,-|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs879914495|4223|-1||EntrezGene|HGNC:41927|||||||||RefSeq||GTGTGTGTGG|GTGTGTGTGG||||chr22:g.29020776_29020785del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36970;gnomADv4_1_AC_joint_XX=19068;gnomADv4_1_AC_joint_XY=17902;gnomADv4_1_AF_grpmax_joint=0.396612;gnomADv4_1_AF_joint=0.306607;gnomADv4_1_AF_joint_XX=0.306984;gnomADv4_1_AF_joint_XY=0.306206;gnomADv4_1_AN_grpmax_joint=55190;gnomADv4_1_AN_joint=120578;gnomADv4_1_AN_joint_XX=62114;gnomADv4_1_AN_joint_XY=58464;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5512;gnomADv4_1_nhomalt_joint_XX=2864;gnomADv4_1_nhomalt_joint_XY=2648;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29021051 chr22_29021051_C_G C G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.911;CADD_Rawscore=0.265827;CSQ=G|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs1977047|3948|-1||HGNC|HGNC:41927|2||||||||Ensembl||C|C||||chr22:g.29021051C>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-21444C>G|||||||rs1977047||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29021051C>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-21444C>G|||||||rs1977047||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29021051C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs1977047|2431|1||HGNC|HGNC:41440|5||||||||Ensembl||C|C||||chr22:g.29021051C>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-21444C>G|||||||rs1977047||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29021051C>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-21444C>G|||||||rs1977047||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29021051C>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-21444C>G|||||||rs1977047||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29021051C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs1977047|3948|-1||EntrezGene|HGNC:41927|||||||||RefSeq||C|C||||chr22:g.29021051C>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-22|-1|24|-23;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65528;gnomADv4_1_AC_joint_XX=33641;gnomADv4_1_AC_joint_XY=31887;gnomADv4_1_AF_grpmax_joint=0.489387;gnomADv4_1_AF_joint=0.43214;gnomADv4_1_AF_joint_XX=0.433607;gnomADv4_1_AF_joint_XY=0.430603;gnomADv4_1_AN_grpmax_joint=67936;gnomADv4_1_AN_joint=151636;gnomADv4_1_AN_joint_XX=77584;gnomADv4_1_AN_joint_XY=74052;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14703;gnomADv4_1_nhomalt_joint_XX=7583;gnomADv4_1_nhomalt_joint_XY=7120;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29021237 chr22_29021237_A_T A T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.134;CADD_Rawscore=-0.532701;CSQ=T|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs874916|3762|-1||HGNC|HGNC:41927|2||||||||Ensembl||A|A||||chr22:g.29021237A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-21258A>T|||||||rs874916||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29021237A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-21258A>T|||||||rs874916||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29021237A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs874916|2617|1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.29021237A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-21258A>T|||||||rs874916||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29021237A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-21258A>T|||||||rs874916||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29021237A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-21258A>T|||||||rs874916||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29021237A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs874916|3762|-1||EntrezGene|HGNC:41927|||||||||RefSeq||A|A||||chr22:g.29021237A>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|-31|-1|-2|6;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69584;gnomADv4_1_AC_joint_XX=35717;gnomADv4_1_AC_joint_XY=33867;gnomADv4_1_AF_grpmax_joint=0.503548;gnomADv4_1_AF_joint=0.458834;gnomADv4_1_AF_joint_XX=0.460651;gnomADv4_1_AF_joint_XY=0.456934;gnomADv4_1_AN_grpmax_joint=67918;gnomADv4_1_AN_joint=151654;gnomADv4_1_AN_joint_XX=77536;gnomADv4_1_AN_joint_XY=74118;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16353;gnomADv4_1_nhomalt_joint_XX=8467;gnomADv4_1_nhomalt_joint_XY=7886;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29021308 chr22_29021308_A_C A C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.146;CADD_Rawscore=0.182596;CSQ=C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs874915|3691|-1||HGNC|HGNC:41927|2||||||||Ensembl||A|A||||chr22:g.29021308A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-21187A>C|||||||rs874915||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29021308A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-21187A>C|||||||rs874915||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29021308A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs874915|2688|1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.29021308A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-21187A>C|||||||rs874915||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29021308A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-21187A>C|||||||rs874915||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29021308A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-21187A>C|||||||rs874915||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29021308A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs874915|3691|-1||EntrezGene|HGNC:41927|||||||||RefSeq||A|A||||chr22:g.29021308A>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|31|-3|12|-3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66253;gnomADv4_1_AC_joint_XX=33994;gnomADv4_1_AC_joint_XY=32259;gnomADv4_1_AF_grpmax_joint=0.495086;gnomADv4_1_AF_joint=0.43603;gnomADv4_1_AF_joint_XX=0.437638;gnomADv4_1_AF_joint_XY=0.434348;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=151946;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15039;gnomADv4_1_nhomalt_joint_XX=7751;gnomADv4_1_nhomalt_joint_XY=7288;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29021490 chr22_29021490_CT_C CT C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.294;CADDIndel_Rawscore=-0.327561;CSQ=-|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs5844830|3508|-1||HGNC|HGNC:41927|2||||||||Ensembl||T|T||||chr22:g.29021504del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-20991del|||||||rs5844830||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1|13|chr22:g.29021504del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-20991del|||||||rs5844830||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1|13|chr22:g.29021504del|||||||||||||,-|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs5844830|2871|1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29021504del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-20991del|||||||rs5844830||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1|13|chr22:g.29021504del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-20991del|||||||rs5844830||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T|||13|chr22:g.29021504del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-20991del|||||||rs5844830||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T|||13|chr22:g.29021504del|||||||||||||,-|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs5844830|3508|-1||EntrezGene|HGNC:41927|||||||||RefSeq||T|T||||chr22:g.29021504del|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|25|23|23|43;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62069;gnomADv4_1_AC_joint_XX=32102;gnomADv4_1_AC_joint_XY=29967;gnomADv4_1_AF_grpmax_joint=0.487573;gnomADv4_1_AF_joint=0.430801;gnomADv4_1_AF_joint_XX=0.432711;gnomADv4_1_AF_joint_XY=0.428774;gnomADv4_1_AN_grpmax_joint=65504;gnomADv4_1_AN_joint=144078;gnomADv4_1_AN_joint_XX=74188;gnomADv4_1_AN_joint_XY=69890;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13304;gnomADv4_1_nhomalt_joint_XX=6945;gnomADv4_1_nhomalt_joint_XY=6359;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29021558 chr22_29021558_G_A G A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.558;CADD_Rawscore=-0.165753;CSQ=A|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs958380452|3441|-1||HGNC|HGNC:41927|2||||||||Ensembl||G|G||||chr22:g.29021558G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-20937G>A|||||||rs958380452||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29021558G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-20937G>A|||||||rs958380452||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29021558G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs958380452|2938|1||HGNC|HGNC:41440|5||||||||Ensembl||G|G||||chr22:g.29021558G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-20937G>A|||||||rs958380452||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29021558G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-20937G>A|||||||rs958380452||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29021558G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-20937G>A|||||||rs958380452||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29021558G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs958380452|3441|-1||EntrezGene|HGNC:41927|||||||||RefSeq||G|G||||chr22:g.29021558G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|-45|1|24|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29;gnomADv4_1_AC_joint_XX=16;gnomADv4_1_AC_joint_XY=13;gnomADv4_1_AF_grpmax_joint=4.85154e-05;gnomADv4_1_AF_joint=0.000191343;gnomADv4_1_AF_joint_XX=0.000206313;gnomADv4_1_AF_joint_XY=0.000175657;gnomADv4_1_AN_grpmax_joint=41224;gnomADv4_1_AN_joint=151560;gnomADv4_1_AN_joint_XX=77552;gnomADv4_1_AN_joint_XY=74008;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29021661 chr22_29021661_T_C T C 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.417;CADD_Rawscore=0.073137;CSQ=C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs141715976|3338|-1||HGNC|HGNC:41927|2||||||||Ensembl||T|T||||chr22:g.29021661T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-20834T>C|||||||rs141715976||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29021661T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-20834T>C|||||||rs141715976||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29021661T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs141715976|3041|1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29021661T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-20834T>C|||||||rs141715976||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29021661T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-20834T>C|||||||rs141715976||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29021661T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-20834T>C|||||||rs141715976||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29021661T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs141715976|3338|-1||EntrezGene|HGNC:41927|||||||||RefSeq||T|T||||chr22:g.29021661T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|38|12|-31|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=990;gnomADv4_1_AC_joint_XX=521;gnomADv4_1_AC_joint_XY=469;gnomADv4_1_AF_grpmax_joint=0.0170068;gnomADv4_1_AF_joint=0.00651616;gnomADv4_1_AF_joint_XX=0.006707;gnomADv4_1_AF_joint_XY=0.0063165;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151930;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=18;gnomADv4_1_nhomalt_joint_XX=7;gnomADv4_1_nhomalt_joint_XY=11;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29021804 chr22_29021804_T_C T C 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=13.43;CADD_Rawscore=1.37863;CSQ=C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs66905312|3195|-1||HGNC|HGNC:41927|2||||||||Ensembl||T|T||||chr22:g.29021804T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-20691T>C|||||||rs66905312||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29021804T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-20691T>C|||||||rs66905312||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29021804T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs66905312|3184|1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29021804T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-20691T>C|||||||rs66905312||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29021804T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-20691T>C|||||||rs66905312||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29021804T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-20691T>C|||||||rs66905312||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29021804T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs66905312|3195|-1||EntrezGene|HGNC:41927|||||||||RefSeq||T|T||||chr22:g.29021804T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|2|5|39|-37;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46902;gnomADv4_1_AC_joint_XX=23920;gnomADv4_1_AC_joint_XY=22982;gnomADv4_1_AF_grpmax_joint=0.424658;gnomADv4_1_AF_joint=0.308399;gnomADv4_1_AF_joint_XX=0.3077;gnomADv4_1_AF_joint_XY=0.309131;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8851;gnomADv4_1_nhomalt_joint_XX=4529;gnomADv4_1_nhomalt_joint_XY=4322;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29022175 chr22_29022175_A_T A T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=7.841;CADD_Rawscore=0.751079;CSQ=T|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs874917|2824|-1||HGNC|HGNC:41927|2||||||||Ensembl||A|A||||chr22:g.29022175A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-20320A>T|||||||rs874917||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29022175A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-20320A>T|||||||rs874917||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29022175A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs874917|3555|1||HGNC|HGNC:41440|5||||||||Ensembl||A|A||||chr22:g.29022175A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-20320A>T|||||||rs874917||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29022175A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs874917|4698|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29022175A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs874917|4703|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29022175A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-20320A>T|||||||rs874917||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29022175A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-20320A>T|||||||rs874917||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29022175A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs874917|2824|-1||EntrezGene|HGNC:41927|||||||||RefSeq||A|A||||chr22:g.29022175A>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|-39|33|-8|2;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,ENST00000796000,ENST00000796001,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=85202;gnomADv4_1_AC_joint_XX=43755;gnomADv4_1_AC_joint_XY=41447;gnomADv4_1_AF_grpmax_joint=0.634979;gnomADv4_1_AF_joint=0.56009;gnomADv4_1_AF_joint_XX=0.562649;gnomADv4_1_AF_joint_XY=0.557413;gnomADv4_1_AN_grpmax_joint=41488;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24161;gnomADv4_1_nhomalt_joint_XX=12496;gnomADv4_1_nhomalt_joint_XY=11665;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29022221 chr22_29022221_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=8.576;CADD_Rawscore=0.830516;CSQ=A|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs5997430|2778|-1||HGNC|HGNC:41927|2||||||||Ensembl||G|G||||chr22:g.29022221G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-20274G>A|||||||rs5997430||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29022221G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-20274G>A|||||||rs5997430||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29022221G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs5997430|3601|1||HGNC|HGNC:41440|5||||||||Ensembl||G|G||||chr22:g.29022221G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-20274G>A|||||||rs5997430||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29022221G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs5997430|4652|-1||HGNC|HGNC:41927|||||||||Ensembl||G|G||||chr22:g.29022221G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs5997430|4657|-1||HGNC|HGNC:41927|||||||||Ensembl||G|G||||chr22:g.29022221G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-20274G>A|||||||rs5997430||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29022221G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-20274G>A|||||||rs5997430||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29022221G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs5997430|2778|-1||EntrezGene|HGNC:41927|||||||||RefSeq||G|G||||chr22:g.29022221G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|27|-13|-26|50;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,ENST00000796000,ENST00000796001,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69792;gnomADv4_1_AC_joint_XX=35817;gnomADv4_1_AC_joint_XY=33975;gnomADv4_1_AF_grpmax_joint=0.503781;gnomADv4_1_AF_joint=0.458995;gnomADv4_1_AF_joint_XX=0.460752;gnomADv4_1_AF_joint_XY=0.457157;gnomADv4_1_AN_grpmax_joint=67974;gnomADv4_1_AN_joint=152054;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16403;gnomADv4_1_nhomalt_joint_XX=8484;gnomADv4_1_nhomalt_joint_XY=7919;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29022639 chr22_29022639_C_T C T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.675;CADD_Rawscore=-0.117979;CSQ=T|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs6005958|2360|-1||HGNC|HGNC:41927|2||||||||Ensembl||C|C||||chr22:g.29022639C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-19856C>T|||||||rs6005958||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29022639C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-19856C>T|||||||rs6005958||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29022639C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs6005958|4019|1||HGNC|HGNC:41440|5||||||||Ensembl||C|C||||chr22:g.29022639C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-19856C>T|||||||rs6005958||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29022639C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs6005958|4234|-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29022639C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs6005958|4239|-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29022639C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-19856C>T|||||||rs6005958||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29022639C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-19856C>T|||||||rs6005958||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29022639C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs6005958|2360|-1||EntrezGene|HGNC:41927|||||||||RefSeq||C|C||||chr22:g.29022639C>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|12|-50|-2|46;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,ENST00000796000,ENST00000796001,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=79825;gnomADv4_1_AC_joint_XX=41222;gnomADv4_1_AC_joint_XY=38603;gnomADv4_1_AF_grpmax_joint=0.559947;gnomADv4_1_AF_joint=0.524819;gnomADv4_1_AF_joint_XX=0.530159;gnomADv4_1_AF_joint_XY=0.519234;gnomADv4_1_AN_grpmax_joint=41470;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=21166;gnomADv4_1_nhomalt_joint_XX=11062;gnomADv4_1_nhomalt_joint_XY=10104;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29022670 chr22_29022670_T_C T C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.738;CADD_Rawscore=0.126898;CSQ=C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs6005959|2329|-1||HGNC|HGNC:41927|2||||||||Ensembl||T|T||||chr22:g.29022670T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-19825T>C|||||||rs6005959||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29022670T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-19825T>C|||||||rs6005959||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29022670T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs6005959|4050|1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29022670T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-19825T>C|||||||rs6005959||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29022670T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs6005959|4203|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29022670T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs6005959|4208|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29022670T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-19825T>C|||||||rs6005959||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29022670T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-19825T>C|||||||rs6005959||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29022670T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs6005959|2329|-1||EntrezGene|HGNC:41927|||||||||RefSeq||T|T||||chr22:g.29022670T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-43|5|15|-12;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,ENST00000796000,ENST00000796001,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70361;gnomADv4_1_AC_joint_XX=36115;gnomADv4_1_AC_joint_XY=34246;gnomADv4_1_AF_grpmax_joint=0.509065;gnomADv4_1_AF_joint=0.462749;gnomADv4_1_AF_joint_XX=0.464765;gnomADv4_1_AF_joint_XY=0.460642;gnomADv4_1_AN_grpmax_joint=67956;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16692;gnomADv4_1_nhomalt_joint_XX=8634;gnomADv4_1_nhomalt_joint_XY=8058;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29022681 chr22_29022681_T_A T A 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.321;CADD_Rawscore=0.304509;CSQ=A|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs5997431|2318|-1||HGNC|HGNC:41927|2||||||||Ensembl||T|T||||chr22:g.29022681T>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-19814T>A|||||||rs5997431||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29022681T>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-19814T>A|||||||rs5997431||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29022681T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs5997431|4061|1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29022681T>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-19814T>A|||||||rs5997431||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29022681T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs5997431|4192|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29022681T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs5997431|4197|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29022681T>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-19814T>A|||||||rs5997431||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29022681T>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-19814T>A|||||||rs5997431||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29022681T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs5997431|2318|-1||EntrezGene|HGNC:41927|||||||||RefSeq||T|T||||chr22:g.29022681T>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|4|8|4|8;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,ENST00000796000,ENST00000796001,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70353;gnomADv4_1_AC_joint_XX=36117;gnomADv4_1_AC_joint_XY=34236;gnomADv4_1_AF_grpmax_joint=0.508991;gnomADv4_1_AF_joint=0.462666;gnomADv4_1_AF_joint_XX=0.464731;gnomADv4_1_AF_joint_XY=0.460508;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=152060;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16689;gnomADv4_1_nhomalt_joint_XX=8634;gnomADv4_1_nhomalt_joint_XY=8055;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29022870 chr22_29022870_T_G T G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=4.179;CADD_Rawscore=0.381157;CSQ=G|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs7284304|2129|-1||HGNC|HGNC:41927|2||||||||Ensembl||T|T||||chr22:g.29022870T>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-19625T>G|||||||rs7284304||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29022870T>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-19625T>G|||||||rs7284304||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29022870T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs7284304|4250|1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29022870T>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-19625T>G|||||||rs7284304||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29022870T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs7284304|4003|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29022870T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs7284304|4008|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29022870T>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-19625T>G|||||||rs7284304||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29022870T>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-19625T>G|||||||rs7284304||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29022870T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs7284304|2129|-1||EntrezGene|HGNC:41927|||||||||RefSeq||T|T||||chr22:g.29022870T>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-1|-15|-1|7;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,ENST00000796000,ENST00000796001,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70275;gnomADv4_1_AC_joint_XX=36094;gnomADv4_1_AC_joint_XY=34181;gnomADv4_1_AF_grpmax_joint=0.509198;gnomADv4_1_AF_joint=0.462573;gnomADv4_1_AF_joint_XX=0.464614;gnomADv4_1_AF_joint_XY=0.460437;gnomADv4_1_AN_grpmax_joint=67950;gnomADv4_1_AN_joint=151922;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16675;gnomADv4_1_nhomalt_joint_XX=8637;gnomADv4_1_nhomalt_joint_XY=8038;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29023074 chr22_29023074_T_C T C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.092;CADD_Rawscore=0.175923;CSQ=C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs5997432|1925|-1||HGNC|HGNC:41927|2||||||||Ensembl||T|T||||chr22:g.29023074T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-19421T>C|||||||rs5997432||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29023074T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-19421T>C|||||||rs5997432||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29023074T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-IT1|ENSG00000235786|Transcript|ENST00000412798|lncRNA||||||||||rs5997432|4454|1||HGNC|HGNC:41440|5||||||||Ensembl||T|T||||chr22:g.29023074T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-19421T>C|||||||rs5997432||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29023074T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs5997432|3799|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29023074T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs5997432|3804|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29023074T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-19421T>C|||||||rs5997432||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29023074T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-19421T>C|||||||rs5997432||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29023074T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs5997432|1925|-1||EntrezGene|HGNC:41927|||||||||RefSeq||T|T||||chr22:g.29023074T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-16|-6|18|5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000412798,ENST00000544604,ENST00000796000,ENST00000796001,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000235786,ENSG00000183579,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-IT1,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=85703;gnomADv4_1_AC_joint_XX=44029;gnomADv4_1_AC_joint_XY=41674;gnomADv4_1_AF_grpmax_joint=0.635916;gnomADv4_1_AF_joint=0.563761;gnomADv4_1_AF_joint_XX=0.566639;gnomADv4_1_AF_joint_XY=0.560752;gnomADv4_1_AN_grpmax_joint=41452;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24474;gnomADv4_1_nhomalt_joint_XX=12672;gnomADv4_1_nhomalt_joint_XY=11802;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29023999 chr22_29023999_A_G A G 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=13.86;CADD_Rawscore=1.44611;CSQ=G|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs9613776|1000|-1||HGNC|HGNC:41927|2||||||||Ensembl||A|A||||chr22:g.29023999A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-18496A>G|||||||rs9613776||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29023999A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-18496A>G|||||||rs9613776||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29023999A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-18496A>G|||||||rs9613776||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29023999A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs9613776|2874|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29023999A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs9613776|2879|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29023999A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-18496A>G|||||||rs9613776||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29023999A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-18496A>G|||||||rs9613776||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29023999A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs9613776|1000|-1||EntrezGene|HGNC:41927|||||||||RefSeq||A|A||||chr22:g.29023999A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-33|23|-5|-3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70331;gnomADv4_1_AC_joint_XX=36107;gnomADv4_1_AC_joint_XY=34224;gnomADv4_1_AF_grpmax_joint=0.509333;gnomADv4_1_AF_joint=0.462844;gnomADv4_1_AF_joint_XX=0.464745;gnomADv4_1_AF_joint_XY=0.460855;gnomADv4_1_AN_grpmax_joint=67928;gnomADv4_1_AN_joint=151954;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16700;gnomADv4_1_nhomalt_joint_XX=8641;gnomADv4_1_nhomalt_joint_XY=8059;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29024284 chr22_29024284_G_GTTTTTTT G GTTTTTTT 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=2.392;CADDIndel_Rawscore=0.211721;CSQ=TTTTTTT|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs59532780|714|-1||HGNC|HGNC:41927|2||||||||Ensembl|||||||chr22:g.29024291_29024297dup|||||||||||||,TTTTTTT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-18204_127-18198dup|||||||rs59532780||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|13|chr22:g.29024291_29024297dup|||||||||||||,TTTTTTT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-18204_127-18198dup|||||||rs59532780||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|13|chr22:g.29024291_29024297dup|||||||||||||,TTTTTTT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-18204_427-18198dup|||||||rs59532780||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|13|chr22:g.29024291_29024297dup|||||||||||||,TTTTTTT|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs59532780|2588|-1||HGNC|HGNC:41927|||||||||Ensembl|||||||chr22:g.29024291_29024297dup|||||||||||||,TTTTTTT|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs59532780|2593|-1||HGNC|HGNC:41927|||||||||Ensembl|||||||chr22:g.29024291_29024297dup|||||||||||||,TTTTTTT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-18204_427-18198dup|||||||rs59532780||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||13|chr22:g.29024291_29024297dup|||||||||||||,TTTTTTT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-18204_127-18198dup|||||||rs59532780||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||13|chr22:g.29024291_29024297dup|||||||||||||,TTTTTTT|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs59532780|714|-1||EntrezGene|HGNC:41927|||||||||RefSeq|||||||chr22:g.29024291_29024297dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTTTTT,TTTTTTT,TTTTTTT,TTTTTTT,TTTTTTT,TTTTTTT,TTTTTTT,TTTTTTT,TTTTTTT;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32621;gnomADv4_1_AC_joint_XX=17442;gnomADv4_1_AC_joint_XY=15179;gnomADv4_1_AF_grpmax_joint=0.355856;gnomADv4_1_AF_joint=0.258934;gnomADv4_1_AF_joint_XX=0.263212;gnomADv4_1_AF_joint_XY=0.254186;gnomADv4_1_AN_grpmax_joint=222;gnomADv4_1_AN_joint=125982;gnomADv4_1_AN_joint_XX=66266;gnomADv4_1_AN_joint_XY=59716;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5347;gnomADv4_1_nhomalt_joint_XX=2890;gnomADv4_1_nhomalt_joint_XY=2457;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29024494 chr22_29024494_G_A G A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=6.518;CADD_Rawscore=0.606609;CSQ=A|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs9613777|505|-1||HGNC|HGNC:41927|2||||||||Ensembl||G|G||||chr22:g.29024494G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-18001G>A|||||||rs9613777||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29024494G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-18001G>A|||||||rs9613777||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29024494G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-18001G>A|||||||rs9613777||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29024494G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs9613777|2379|-1||HGNC|HGNC:41927|||||||||Ensembl||G|G||||chr22:g.29024494G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs9613777|2384|-1||HGNC|HGNC:41927|||||||||Ensembl||G|G||||chr22:g.29024494G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-18001G>A|||||||rs9613777||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29024494G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-18001G>A|||||||rs9613777||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29024494G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs9613777|505|-1||EntrezGene|HGNC:41927|||||||||RefSeq||G|G||||chr22:g.29024494G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|47|27|-12|-35;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66152;gnomADv4_1_AC_joint_XX=33985;gnomADv4_1_AC_joint_XY=32167;gnomADv4_1_AF_grpmax_joint=0.49567;gnomADv4_1_AF_joint=0.436393;gnomADv4_1_AF_joint_XX=0.438211;gnomADv4_1_AF_joint_XY=0.43449;gnomADv4_1_AN_grpmax_joint=67900;gnomADv4_1_AN_joint=151588;gnomADv4_1_AN_joint_XX=77554;gnomADv4_1_AN_joint_XY=74034;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15027;gnomADv4_1_nhomalt_joint_XX=7764;gnomADv4_1_nhomalt_joint_XY=7263;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29024682 chr22_29024682_T_C T C 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=4.986;CADD_Rawscore=0.454554;CSQ=C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs939812834|317|-1||HGNC|HGNC:41927|2||||||||Ensembl||T|T||||chr22:g.29024682T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-17813T>C|||||||rs939812834||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29024682T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-17813T>C|||||||rs939812834||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29024682T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-17813T>C|||||||rs939812834||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29024682T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs939812834|2191|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29024682T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs939812834|2196|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29024682T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-17813T>C|||||||rs939812834||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29024682T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-17813T>C|||||||rs939812834||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29024682T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs939812834|317|-1||EntrezGene|HGNC:41927|||||||||RefSeq||T|T||||chr22:g.29024682T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-22|49|13|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8;gnomADv4_1_AC_joint_XX=5;gnomADv4_1_AC_joint_XY=3;gnomADv4_1_AF_grpmax_joint=4.40956e-05;gnomADv4_1_AF_joint=5.25894e-05;gnomADv4_1_AF_joint_XX=6.4264e-05;gnomADv4_1_AF_joint_XY=4.03671e-05;gnomADv4_1_AN_grpmax_joint=68034;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29024976 chr22_29024976_CT_C;chr22_29024976_C_CTTT CT C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=47;CADDIndel_PHREDscore=0.047;CADDIndel_Rawscore=-0.814563;CSQ=-|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs134554|22|-1||HGNC|HGNC:41927|2||||||||Ensembl||T|T||||chr22:g.29024998del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-17497del|||||||rs134554||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1|21|chr22:g.29024998del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-17497del|||||||rs134554||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1|21|chr22:g.29024998del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-17497del|||||||rs134554||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1|21|chr22:g.29024998del|||||||||||||,-|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs134554|1896|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29024998del|||||||||||||,-|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs134554|1901|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29024998del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-17497del|||||||rs134554||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T|||21|chr22:g.29024998del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-17497del|||||||rs134554||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T|||21|chr22:g.29024998del|||||||||||||,-|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs134554|22|-1||EntrezGene|HGNC:41927|||||||||RefSeq||T|T||||chr22:g.29024998del|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|27|19|-41|22;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36695;gnomADv4_1_AC_joint_XX=19599;gnomADv4_1_AC_joint_XY=17096;gnomADv4_1_AF_grpmax_joint=0.422619;gnomADv4_1_AF_joint=0.336911;gnomADv4_1_AF_joint_XX=0.332558;gnomADv4_1_AF_joint_XY=0.342043;gnomADv4_1_AN_grpmax_joint=168;gnomADv4_1_AN_joint=108916;gnomADv4_1_AN_joint_XX=58934;gnomADv4_1_AN_joint_XY=49982;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3900;gnomADv4_1_nhomalt_joint_XX=2017;gnomADv4_1_nhomalt_joint_XY=1883;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29024976 chr22_29024976_CT_C;chr22_29024976_C_CTTT C CTTT 47 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=25;CADDIndel_PHREDscore=1.833;CADDIndel_Rawscore=0.140921;CSQ=TTT|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs134554|22|-1||HGNC|HGNC:41927|2||||||||Ensembl|||||||chr22:g.29024996_29024998dup|||||||||||||,TTT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-17499_127-17497dup|||||||rs134554||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|22|chr22:g.29024996_29024998dup|||||||||||||,TTT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-17499_127-17497dup|||||||rs134554||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|22|chr22:g.29024996_29024998dup|||||||||||||,TTT|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-17499_427-17497dup|||||||rs134554||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|22|chr22:g.29024996_29024998dup|||||||||||||,TTT|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs134554|1896|-1||HGNC|HGNC:41927|||||||||Ensembl|||||||chr22:g.29024996_29024998dup|||||||||||||,TTT|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs134554|1901|-1||HGNC|HGNC:41927|||||||||Ensembl|||||||chr22:g.29024996_29024998dup|||||||||||||,TTT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-17499_427-17497dup|||||||rs134554||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||22|chr22:g.29024996_29024998dup|||||||||||||,TTT|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-17499_127-17497dup|||||||rs134554||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||22|chr22:g.29024996_29024998dup|||||||||||||,TTT|downstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs134554|22|-1||EntrezGene|HGNC:41927|||||||||RefSeq|||||||chr22:g.29024996_29024998dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT,TTT;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43914;gnomADv4_1_AC_joint_XX=24326;gnomADv4_1_AC_joint_XY=19588;gnomADv4_1_AF_grpmax_joint=0.48393;gnomADv4_1_AF_joint=0.398233;gnomADv4_1_AF_joint_XX=0.407266;gnomADv4_1_AF_joint_XY=0.387559;gnomADv4_1_AN_grpmax_joint=56192;gnomADv4_1_AN_joint=110272;gnomADv4_1_AN_joint_XX=59730;gnomADv4_1_AN_joint_XY=50542;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9134;gnomADv4_1_nhomalt_joint_XX=5156;gnomADv4_1_nhomalt_joint_XY=3978;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29025156 chr22_29025156_A_G A G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=4.478;CADD_Rawscore=0.407969;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA|3/3||ENST00000325660.3:n.2013T>C||2013|||||rs9613778||-1||HGNC|HGNC:41927|2||||||||Ensembl||A|A||||chr22:g.29025156A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-17339A>G|||||||rs9613778||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29025156A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-17339A>G|||||||rs9613778||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29025156A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-17339A>G|||||||rs9613778||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29025156A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs9613778|1717|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29025156A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs9613778|1722|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29025156A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-17339A>G|||||||rs9613778||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29025156A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-17339A>G|||||||rs9613778||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29025156A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA|3/3||NR_046851.1:n.2013T>C||2013|||||rs9613778||-1||EntrezGene|HGNC:41927|||||||||RefSeq||A|A||||chr22:g.29025156A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|8|2|-32|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47244;gnomADv4_1_AC_joint_XX=24122;gnomADv4_1_AC_joint_XY=23122;gnomADv4_1_AF_grpmax_joint=0.418367;gnomADv4_1_AF_joint=0.311928;gnomADv4_1_AF_joint_XX=0.311436;gnomADv4_1_AF_joint_XY=0.312443;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151458;gnomADv4_1_AN_joint_XX=77454;gnomADv4_1_AN_joint_XY=74004;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8992;gnomADv4_1_nhomalt_joint_XX=4609;gnomADv4_1_nhomalt_joint_XY=4383;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29025450 chr22_29025450_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.087;CADD_Rawscore=-0.6501;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA|3/3||ENST00000325660.3:n.1719T>C||1719|||||rs134555||-1||HGNC|HGNC:41927|2||||||||Ensembl||A|A||||chr22:g.29025450A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-17045A>G|||||||rs134555||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29025450A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-17045A>G|||||||rs134555||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29025450A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-17045A>G|||||||rs134555||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29025450A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs134555|1423|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29025450A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs134555|1428|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29025450A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-17045A>G|||||||rs134555||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29025450A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-17045A>G|||||||rs134555||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29025450A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA|3/3||NR_046851.1:n.1719T>C||1719|||||rs134555||-1||EntrezGene|HGNC:41927|||||||||RefSeq||A|A||||chr22:g.29025450A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|24|6|24|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151555;gnomADv4_1_AC_joint_XX=77419;gnomADv4_1_AC_joint_XY=74136;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.995056;gnomADv4_1_AF_joint_XX=0.994668;gnomADv4_1_AF_joint_XY=0.995462;gnomADv4_1_AN_grpmax_joint=296;gnomADv4_1_AN_joint=152308;gnomADv4_1_AN_joint_XX=77834;gnomADv4_1_AN_joint_XY=74474;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75404;gnomADv4_1_nhomalt_joint_XX=38504;gnomADv4_1_nhomalt_joint_XY=36900;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29025564 chr22_29025564_C_CT C CT 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.912;CADDIndel_Rawscore=-0.041709;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA|3/3||ENST00000325660.3:n.1604dup||1604-1605|||||rs201290663||-1||HGNC|HGNC:41927|2||||||||Ensembl|||||||chr22:g.29025576dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-16919dup|||||||rs201290663||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|12|chr22:g.29025576dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-16919dup|||||||rs201290663||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|12|chr22:g.29025576dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-16919dup|||||||rs201290663||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|12|chr22:g.29025576dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs201290663|1308|-1||HGNC|HGNC:41927|||||||||Ensembl|||||||chr22:g.29025576dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs201290663|1313|-1||HGNC|HGNC:41927|||||||||Ensembl|||||||chr22:g.29025576dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs201290663|4991|-1||HGNC|HGNC:41927|||||||||Ensembl|||||||chr22:g.29025576dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-16919dup|||||||rs201290663||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||12|chr22:g.29025576dup|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-16919dup|||||||rs201290663||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||12|chr22:g.29025576dup|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA|3/3||NR_046851.1:n.1604dup||1604-1605|||||rs201290663||-1||EntrezGene|HGNC:41927|||||||||RefSeq|||||||chr22:g.29025576dup|||||||||||||;SpliceAI=CT|ZNRF3|0.00|0.00|0.00|0.00|16|14|-25|-29;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49450;gnomADv4_1_AC_joint_XX=25541;gnomADv4_1_AC_joint_XY=23909;gnomADv4_1_AF_grpmax_joint=0.41958;gnomADv4_1_AF_joint=0.335646;gnomADv4_1_AF_joint_XX=0.3373;gnomADv4_1_AF_joint_XY=0.333897;gnomADv4_1_AN_grpmax_joint=286;gnomADv4_1_AN_joint=147328;gnomADv4_1_AN_joint_XX=75722;gnomADv4_1_AN_joint_XY=71606;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9165;gnomADv4_1_nhomalt_joint_XX=4795;gnomADv4_1_nhomalt_joint_XY=4370;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29026920 chr22_29026920_C_T C T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.737;CADD_Rawscore=0.431476;CSQ=T|non_coding_transcript_exon_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA|3/3||ENST00000325660.3:n.249G>A||249|||||rs6005964||-1||HGNC|HGNC:41927|2||||||||Ensembl||C|C||||chr22:g.29026920C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-15575C>T|||||||rs6005964||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29026920C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-15575C>T|||||||rs6005964||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29026920C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-15575C>T|||||||rs6005964||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29026920C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA|2/2||ENST00000796000.1:n.376G>A||376|||||rs6005964||-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29026920C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA|3/3||ENST00000796001.1:n.286G>A||286|||||rs6005964||-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29026920C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs6005964|3636|-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29026920C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-15575C>T|||||||rs6005964||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29026920C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-15575C>T|||||||rs6005964||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29026920C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA|3/3||NR_046851.1:n.249G>A||249|||||rs6005964||-1||EntrezGene|HGNC:41927|||||||||RefSeq||C|C||||chr22:g.29026920C>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|20|-50|-2|25;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=79163;gnomADv4_1_AC_joint_XX=40853;gnomADv4_1_AC_joint_XY=38310;gnomADv4_1_AF_grpmax_joint=0.558678;gnomADv4_1_AF_joint=0.520522;gnomADv4_1_AF_joint_XX=0.525522;gnomADv4_1_AF_joint_XY=0.515293;gnomADv4_1_AN_grpmax_joint=41498;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20802;gnomADv4_1_nhomalt_joint_XX=10860;gnomADv4_1_nhomalt_joint_XY=9942;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29027277 chr22_29027277_TC_T TC T 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.135;CADDIndel_Rawscore=-0.530511;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||2/2|ENST00000325660.3:n.160-269del|||||||rs11322105||-1||HGNC|HGNC:41927|2||||||||Ensembl||C|C||||chr22:g.29027278del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-15217del|||||||rs11322105||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29027278del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-15217del|||||||rs11322105||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29027278del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-15217del|||||||rs11322105||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29027278del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||1/1|ENST00000796000.1:n.287-269del|||||||rs11322105||-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29027278del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||2/2|ENST00000796001.1:n.197-269del|||||||rs11322105||-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29027278del|||||||||||||,-|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs11322105|3278|-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29027278del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-15217del|||||||rs11322105||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29027278del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-15217del|||||||rs11322105||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29027278del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||2/2|NR_046851.1:n.160-269del|||||||rs11322105||-1||EntrezGene|HGNC:41927|||||||||RefSeq||C|C||||chr22:g.29027278del|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|17|-14|-44|-46;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65435;gnomADv4_1_AC_joint_XX=33611;gnomADv4_1_AC_joint_XY=31824;gnomADv4_1_AF_grpmax_joint=0.489159;gnomADv4_1_AF_joint=0.431441;gnomADv4_1_AF_joint_XX=0.433243;gnomADv4_1_AF_joint_XY=0.429555;gnomADv4_1_AN_grpmax_joint=67892;gnomADv4_1_AN_joint=151666;gnomADv4_1_AN_joint_XX=77580;gnomADv4_1_AN_joint_XY=74086;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14645;gnomADv4_1_nhomalt_joint_XX=7562;gnomADv4_1_nhomalt_joint_XY=7083;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29027305 chr22_29027305_A_G A G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.569;CADD_Rawscore=0.100001;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||2/2|ENST00000325660.3:n.160-296T>C|||||||rs8142591||-1||HGNC|HGNC:41927|2||||||||Ensembl||A|A||||chr22:g.29027305A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-15190A>G|||||||rs8142591||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29027305A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-15190A>G|||||||rs8142591||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29027305A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-15190A>G|||||||rs8142591||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29027305A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||1/1|ENST00000796000.1:n.287-296T>C|||||||rs8142591||-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29027305A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||2/2|ENST00000796001.1:n.197-296T>C|||||||rs8142591||-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29027305A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs8142591|3251|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29027305A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-15190A>G|||||||rs8142591||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29027305A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-15190A>G|||||||rs8142591||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29027305A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||2/2|NR_046851.1:n.160-296T>C|||||||rs8142591||-1||EntrezGene|HGNC:41927|||||||||RefSeq||A|A||||chr22:g.29027305A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|1|-11|-37|-11;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69518;gnomADv4_1_AC_joint_XX=35695;gnomADv4_1_AC_joint_XY=33823;gnomADv4_1_AF_grpmax_joint=0.503375;gnomADv4_1_AF_joint=0.458974;gnomADv4_1_AF_joint_XX=0.460557;gnomADv4_1_AF_joint_XY=0.457315;gnomADv4_1_AN_grpmax_joint=67846;gnomADv4_1_AN_joint=151464;gnomADv4_1_AN_joint_XX=77504;gnomADv4_1_AN_joint_XY=73960;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16294;gnomADv4_1_nhomalt_joint_XX=8434;gnomADv4_1_nhomalt_joint_XY=7860;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29029606 chr22_29029606_T_C T C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=3.418;CADD_Rawscore=0.313302;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||2/2|ENST00000325660.3:n.159+1478A>G|||||||rs113128699||-1||HGNC|HGNC:41927|2||||||||Ensembl||T|T||||chr22:g.29029606T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-12889T>C|||||||rs113128699||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29029606T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-12889T>C|||||||rs113128699||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29029606T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-12889T>C|||||||rs113128699||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29029606T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||1/1|ENST00000796000.1:n.286+1478A>G|||||||rs113128699||-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29029606T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||2/2|ENST00000796001.1:n.196+1478A>G|||||||rs113128699||-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29029606T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs113128699|950|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29029606T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-12889T>C|||||||rs113128699||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29029606T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-12889T>C|||||||rs113128699||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29029606T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||2/2|NR_046851.1:n.159+1478A>G|||||||rs113128699||-1||EntrezGene|HGNC:41927|||||||||RefSeq||T|T||||chr22:g.29029606T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-43|48|-44|-39;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=623;gnomADv4_1_AC_joint_XX=328;gnomADv4_1_AC_joint_XY=295;gnomADv4_1_AF_grpmax_joint=0.0314685;gnomADv4_1_AF_joint=0.00430719;gnomADv4_1_AF_joint_XX=0.00443963;gnomADv4_1_AF_joint_XY=0.0041689;gnomADv4_1_AN_grpmax_joint=286;gnomADv4_1_AN_joint=144642;gnomADv4_1_AN_joint_XX=73880;gnomADv4_1_AN_joint_XY=70762;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6;gnomADv4_1_nhomalt_joint_XX=4;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29029761 chr22_29029761_T_C T C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.467;CADD_Rawscore=0.22013;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||2/2|ENST00000325660.3:n.159+1323A>G|||||||rs2072774||-1||HGNC|HGNC:41927|2||||||||Ensembl||T|T||||chr22:g.29029761T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-12734T>C|||||||rs2072774||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29029761T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-12734T>C|||||||rs2072774||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29029761T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-12734T>C|||||||rs2072774||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29029761T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||1/1|ENST00000796000.1:n.286+1323A>G|||||||rs2072774||-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29029761T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||2/2|ENST00000796001.1:n.196+1323A>G|||||||rs2072774||-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29029761T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs2072774|795|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29029761T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-12734T>C|||||||rs2072774||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29029761T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-12734T>C|||||||rs2072774||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29029761T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||2/2|NR_046851.1:n.159+1323A>G|||||||rs2072774||-1||EntrezGene|HGNC:41927|||||||||RefSeq||T|T||||chr22:g.29029761T>C|||||||||||||;SpliceAI=C|ZNRF3|0.03|0.00|0.00|0.00|-32|31|10|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=85677;gnomADv4_1_AC_joint_XX=44013;gnomADv4_1_AC_joint_XY=41664;gnomADv4_1_AF_grpmax_joint=0.635832;gnomADv4_1_AF_joint=0.564162;gnomADv4_1_AF_joint_XX=0.567017;gnomADv4_1_AF_joint_XY=0.561177;gnomADv4_1_AN_grpmax_joint=41382;gnomADv4_1_AN_joint=151866;gnomADv4_1_AN_joint_XX=77622;gnomADv4_1_AN_joint_XY=74244;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24467;gnomADv4_1_nhomalt_joint_XX=12670;gnomADv4_1_nhomalt_joint_XY=11797;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29031212 chr22_29031212_G_A G A 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=7.86;CADD_Rawscore=0.75322;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||1/2|ENST00000325660.3:n.87-56C>T|||||||rs12485244||-1||HGNC|HGNC:41927|2||||||||Ensembl||G|G||||chr22:g.29031212G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-11283G>A|||||||rs12485244||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29031212G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-11283G>A|||||||rs12485244||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29031212G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-11283G>A|||||||rs12485244||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29031212G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA|1/2||ENST00000796000.1:n.158C>T||158|||||rs12485244||-1||HGNC|HGNC:41927|||||||||Ensembl||G|G||||chr22:g.29031212G>A|||||||||||||,A|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||1/2|ENST00000796001.1:n.84-16C>T|||||||rs12485244||-1||HGNC|HGNC:41927|||||||||Ensembl||G|G||||chr22:g.29031212G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||1/2|ENST00000796002.1:n.144-56C>T|||||||rs12485244||-1||HGNC|HGNC:41927|||||||||Ensembl||G|G||||chr22:g.29031212G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-11283G>A|||||||rs12485244||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29031212G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-11283G>A|||||||rs12485244||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29031212G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||1/2|NR_046851.1:n.87-56C>T|||||||rs12485244||-1||EntrezGene|HGNC:41927|||||||||RefSeq||G|G||||chr22:g.29031212G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TR2|enhancer||||||||||rs12485244|||||||||||||||||||||chr22:g.29031212G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|15|1|-30|18;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1,ENSR22_C4TR2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123,.;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64719;gnomADv4_1_AC_joint_XX=33239;gnomADv4_1_AC_joint_XY=31480;gnomADv4_1_AF_grpmax_joint=0.482359;gnomADv4_1_AF_joint=0.425581;gnomADv4_1_AF_joint_XX=0.427588;gnomADv4_1_AF_joint_XY=0.423483;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14283;gnomADv4_1_nhomalt_joint_XX=7368;gnomADv4_1_nhomalt_joint_XY=6915;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29031341 chr22_29031341_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.479;CADD_Rawscore=0.221365;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||1/2|ENST00000325660.3:n.86+50G>A|||||||rs11703054||-1||HGNC|HGNC:41927|2||||||||Ensembl||C|C||||chr22:g.29031341C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-11154C>T|||||||rs11703054||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29031341C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-11154C>T|||||||rs11703054||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29031341C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-11154C>T|||||||rs11703054||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29031341C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA|1/2||ENST00000796000.1:n.29G>A||29|||||rs11703054||-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29031341C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA|1/3||ENST00000796001.1:n.22G>A||22|||||rs11703054||-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29031341C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||1/2|ENST00000796002.1:n.143+50G>A|||||||rs11703054||-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29031341C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-11154C>T|||||||rs11703054||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29031341C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-11154C>T|||||||rs11703054||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29031341C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||1/2|NR_046851.1:n.86+50G>A|||||||rs11703054||-1||EntrezGene|HGNC:41927|||||||||RefSeq||C|C||||chr22:g.29031341C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TR2|enhancer||||||||||rs11703054|||||||||||||||||||||chr22:g.29031341C>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|39|-17|-29|-6;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1,ENSR22_C4TR2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123,.;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35741;gnomADv4_1_AC_joint_XX=18409;gnomADv4_1_AC_joint_XY=17332;gnomADv4_1_AF_grpmax_joint=0.327703;gnomADv4_1_AF_joint=0.234755;gnomADv4_1_AF_joint_XX=0.23651;gnomADv4_1_AF_joint_XY=0.232919;gnomADv4_1_AN_grpmax_joint=296;gnomADv4_1_AN_joint=152248;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5178;gnomADv4_1_nhomalt_joint_XX=2688;gnomADv4_1_nhomalt_joint_XY=2490;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29032909 chr22_29032909_G_A G A 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=23;CADD_PHREDscore=0.12;CADD_Rawscore=-0.561449;CSQ=A|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs76891380|1433|-1||HGNC|HGNC:41927|2||||||||Ensembl||G|G||||chr22:g.29032909G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-9586G>A|||||||rs76891380||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29032909G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-9586G>A|||||||rs76891380||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29032909G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-9586G>A|||||||rs76891380||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29032909G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs76891380|1540|-1||HGNC|HGNC:41927|||||||||Ensembl||G|G||||chr22:g.29032909G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs76891380|1547|-1||HGNC|HGNC:41927|||||||||Ensembl||G|G||||chr22:g.29032909G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs76891380|1376|-1||HGNC|HGNC:41927|||||||||Ensembl||G|G||||chr22:g.29032909G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-9586G>A|||||||rs76891380||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29032909G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-9586G>A|||||||rs76891380||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29032909G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs76891380|1433|-1||EntrezGene|HGNC:41927|||||||||RefSeq||G|G||||chr22:g.29032909G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FJ5P|enhancer||||||||||rs76891380|||||||||||||||||||||chr22:g.29032909G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|2|-40|-31|38;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1,ENSR22_9FJ5P;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123,.;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2734;gnomADv4_1_AC_joint_XX=1295;gnomADv4_1_AC_joint_XY=1439;gnomADv4_1_AF_grpmax_joint=0.0344398;gnomADv4_1_AF_joint=0.0179507;gnomADv4_1_AF_joint_XX=0.0166414;gnomADv4_1_AF_joint_XY=0.0193185;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152306;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74488;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=45;gnomADv4_1_nhomalt_joint_XX=15;gnomADv4_1_nhomalt_joint_XY=30;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29033350 chr22_29033350_CA_C CA C 35 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=35;CADDIndel_PHREDscore=1.132;CADDIndel_Rawscore=0.014403;CSQ=-|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs60310622|1875|-1||HGNC|HGNC:41927|2||||||||Ensembl||A|A||||chr22:g.29033372del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-9123del|||||||rs60310622||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1|21|chr22:g.29033372del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-9123del|||||||rs60310622||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1|21|chr22:g.29033372del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-9123del|||||||rs60310622||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1|21|chr22:g.29033372del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs60310622|1982|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29033372del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs60310622|1989|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29033372del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs60310622|1818|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29033372del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-9123del|||||||rs60310622||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A|||21|chr22:g.29033372del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-9123del|||||||rs60310622||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A|||21|chr22:g.29033372del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs60310622|1875|-1||EntrezGene|HGNC:41927|||||||||RefSeq||A|A||||chr22:g.29033372del|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|35|24|-15|5;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20671;gnomADv4_1_AC_joint_XX=11547;gnomADv4_1_AC_joint_XY=9124;gnomADv4_1_AF_grpmax_joint=0.408163;gnomADv4_1_AF_joint=0.313663;gnomADv4_1_AF_joint_XX=0.317854;gnomADv4_1_AF_joint_XY=0.308514;gnomADv4_1_AN_grpmax_joint=98;gnomADv4_1_AN_joint=65902;gnomADv4_1_AN_joint_XX=36328;gnomADv4_1_AN_joint_XY=29574;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=661;gnomADv4_1_nhomalt_joint_XX=308;gnomADv4_1_nhomalt_joint_XY=353;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29033381 chr22_29033381_A_C A C 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.53;CADD_Rawscore=-0.178402;CSQ=C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs5997433|1905|-1||HGNC|HGNC:41927|2||||||||Ensembl||A|A||||chr22:g.29033381A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-9114A>C|||||||rs5997433||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29033381A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-9114A>C|||||||rs5997433||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29033381A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-9114A>C|||||||rs5997433||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29033381A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs5997433|2012|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29033381A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs5997433|2019|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29033381A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs5997433|1848|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29033381A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-9114A>C|||||||rs5997433||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29033381A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-9114A>C|||||||rs5997433||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29033381A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs5997433|1905|-1||EntrezGene|HGNC:41927|||||||||RefSeq||A|A||||chr22:g.29033381A>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|4|-11|-29|-46;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=89589;gnomADv4_1_AC_joint_XX=46555;gnomADv4_1_AC_joint_XY=43034;gnomADv4_1_AF_grpmax_joint=0.809425;gnomADv4_1_AF_joint=0.614735;gnomADv4_1_AF_joint_XX=0.617588;gnomADv4_1_AF_joint_XY=0.611678;gnomADv4_1_AN_grpmax_joint=39066;gnomADv4_1_AN_joint=145736;gnomADv4_1_AN_joint_XX=75382;gnomADv4_1_AN_joint_XY=70354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=28748;gnomADv4_1_nhomalt_joint_XX=14982;gnomADv4_1_nhomalt_joint_XY=13766;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29033573 chr22_29033573_G_C G C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.23;CADD_Rawscore=-0.390012;CSQ=C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs5997434|2097|-1||HGNC|HGNC:41927|2||||||||Ensembl||G|G||||chr22:g.29033573G>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-8922G>C|||||||rs5997434||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29033573G>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-8922G>C|||||||rs5997434||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29033573G>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-8922G>C|||||||rs5997434||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29033573G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs5997434|2204|-1||HGNC|HGNC:41927|||||||||Ensembl||G|G||||chr22:g.29033573G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs5997434|2211|-1||HGNC|HGNC:41927|||||||||Ensembl||G|G||||chr22:g.29033573G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs5997434|2040|-1||HGNC|HGNC:41927|||||||||Ensembl||G|G||||chr22:g.29033573G>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-8922G>C|||||||rs5997434||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29033573G>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-8922G>C|||||||rs5997434||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29033573G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs5997434|2097|-1||EntrezGene|HGNC:41927|||||||||RefSeq||G|G||||chr22:g.29033573G>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|3|-23|3|-13;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70106;gnomADv4_1_AC_joint_XX=35995;gnomADv4_1_AC_joint_XY=34111;gnomADv4_1_AF_grpmax_joint=0.508935;gnomADv4_1_AF_joint=0.461503;gnomADv4_1_AF_joint_XX=0.463387;gnomADv4_1_AF_joint_XY=0.459531;gnomADv4_1_AN_grpmax_joint=67936;gnomADv4_1_AN_joint=151908;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16591;gnomADv4_1_nhomalt_joint_XX=8583;gnomADv4_1_nhomalt_joint_XY=8008;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29034009 chr22_29034009_T_C T C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.016;CADD_Rawscore=-1.11579;CSQ=C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs8137254|2533|-1||HGNC|HGNC:41927|2||||||||Ensembl||T|T||||chr22:g.29034009T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-8486T>C|||||||rs8137254||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29034009T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-8486T>C|||||||rs8137254||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29034009T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-8486T>C|||||||rs8137254||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29034009T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs8137254|2640|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29034009T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs8137254|2647|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29034009T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs8137254|2476|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29034009T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-8486T>C|||||||rs8137254||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29034009T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-8486T>C|||||||rs8137254||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29034009T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs8137254|2533|-1||EntrezGene|HGNC:41927|||||||||RefSeq||T|T||||chr22:g.29034009T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|50|7|50|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74676;gnomADv4_1_AC_joint_XX=38147;gnomADv4_1_AC_joint_XY=36529;gnomADv4_1_AF_grpmax_joint=0.519104;gnomADv4_1_AF_joint=0.491115;gnomADv4_1_AF_joint_XX=0.490738;gnomADv4_1_AF_joint_XY=0.49151;gnomADv4_1_AN_grpmax_joint=67944;gnomADv4_1_AN_joint=152054;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=18641;gnomADv4_1_nhomalt_joint_XX=9549;gnomADv4_1_nhomalt_joint_XY=9092;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29034471 chr22_29034471_C_A C A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=9.519;CADD_Rawscore=0.92636;CSQ=A|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs9613780|2995|-1||HGNC|HGNC:41927|2||||||||Ensembl||C|C||||chr22:g.29034471C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-8024C>A|||||||rs9613780||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29034471C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-8024C>A|||||||rs9613780||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29034471C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-8024C>A|||||||rs9613780||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29034471C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs9613780|3102|-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29034471C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs9613780|3109|-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29034471C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs9613780|2938|-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29034471C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-8024C>A|||||||rs9613780||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29034471C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-8024C>A|||||||rs9613780||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29034471C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs9613780|2995|-1||EntrezGene|HGNC:41927|||||||||RefSeq||C|C||||chr22:g.29034471C>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|22|-49|-3|28;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47974;gnomADv4_1_AC_joint_XX=24504;gnomADv4_1_AC_joint_XY=23470;gnomADv4_1_AF_grpmax_joint=0.42517;gnomADv4_1_AF_joint=0.31561;gnomADv4_1_AF_joint_XX=0.315318;gnomADv4_1_AF_joint_XY=0.315916;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152004;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9215;gnomADv4_1_nhomalt_joint_XX=4732;gnomADv4_1_nhomalt_joint_XY=4483;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29034999 chr22_29034999_CTTT_C CTTT C 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=1.19;CADDIndel_Rawscore=0.027424;CSQ=-|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs10607848|3524|-1||HGNC|HGNC:41927|2||||||||Ensembl||TTT|TTT||||chr22:g.29035019_29035021del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-7476_127-7474del|||||||rs10607848||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||TTT|TTT||1|19|chr22:g.29035019_29035021del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-7476_127-7474del|||||||rs10607848||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||TTT|TTT||1|19|chr22:g.29035019_29035021del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-7476_427-7474del|||||||rs10607848||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||TTT|TTT||1|19|chr22:g.29035019_29035021del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs10607848|3631|-1||HGNC|HGNC:41927|||||||||Ensembl||TTT|TTT||||chr22:g.29035019_29035021del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs10607848|3638|-1||HGNC|HGNC:41927|||||||||Ensembl||TTT|TTT||||chr22:g.29035019_29035021del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs10607848|3467|-1||HGNC|HGNC:41927|||||||||Ensembl||TTT|TTT||||chr22:g.29035019_29035021del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-7476_427-7474del|||||||rs10607848||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||TTT|TTT|||19|chr22:g.29035019_29035021del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-7476_127-7474del|||||||rs10607848||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||TTT|TTT|||19|chr22:g.29035019_29035021del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs10607848|3524|-1||EntrezGene|HGNC:41927|||||||||RefSeq||TTT|TTT||||chr22:g.29035019_29035021del|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|28|15|13|-8;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55259;gnomADv4_1_AC_joint_XX=29322;gnomADv4_1_AC_joint_XY=25937;gnomADv4_1_AF_grpmax_joint=0.475284;gnomADv4_1_AF_joint=0.422993;gnomADv4_1_AF_joint_XX=0.426204;gnomADv4_1_AF_joint_XY=0.419421;gnomADv4_1_AN_grpmax_joint=62794;gnomADv4_1_AN_joint=130638;gnomADv4_1_AN_joint_XX=68798;gnomADv4_1_AN_joint_XY=61840;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11793;gnomADv4_1_nhomalt_joint_XX=6306;gnomADv4_1_nhomalt_joint_XY=5487;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29035133 chr22_29035133_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.811;CADD_Rawscore=0.256045;CSQ=T|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs7287517|3657|-1||HGNC|HGNC:41927|2||||||||Ensembl||C|C||||chr22:g.29035133C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-7362C>T|||||||rs7287517||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29035133C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-7362C>T|||||||rs7287517||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29035133C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-7362C>T|||||||rs7287517||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29035133C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs7287517|3764|-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29035133C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs7287517|3771|-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29035133C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs7287517|3600|-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29035133C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-7362C>T|||||||rs7287517||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29035133C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-7362C>T|||||||rs7287517||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29035133C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs7287517|3657|-1||EntrezGene|HGNC:41927|||||||||RefSeq||C|C||||chr22:g.29035133C>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|50|44|-2|44;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66168;gnomADv4_1_AC_joint_XX=33959;gnomADv4_1_AC_joint_XY=32209;gnomADv4_1_AF_grpmax_joint=0.495581;gnomADv4_1_AF_joint=0.436459;gnomADv4_1_AF_joint_XX=0.438034;gnomADv4_1_AF_joint_XY=0.43481;gnomADv4_1_AN_grpmax_joint=67886;gnomADv4_1_AN_joint=151602;gnomADv4_1_AN_joint_XX=77526;gnomADv4_1_AN_joint_XY=74076;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14996;gnomADv4_1_nhomalt_joint_XX=7733;gnomADv4_1_nhomalt_joint_XY=7263;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29035271 chr22_29035271_C_G C G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.41;CADD_Rawscore=-0.242864;CSQ=G|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs9608720|3795|-1||HGNC|HGNC:41927|2||||||||Ensembl||C|C||||chr22:g.29035271C>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-7224C>G|||||||rs9608720||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29035271C>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-7224C>G|||||||rs9608720||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29035271C>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-7224C>G|||||||rs9608720||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29035271C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs9608720|3902|-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29035271C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs9608720|3909|-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29035271C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs9608720|3738|-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29035271C>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-7224C>G|||||||rs9608720||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29035271C>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-7224C>G|||||||rs9608720||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29035271C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs9608720|3795|-1||EntrezGene|HGNC:41927|||||||||RefSeq||C|C||||chr22:g.29035271C>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-10|13|-10|-47;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47659;gnomADv4_1_AC_joint_XX=24357;gnomADv4_1_AC_joint_XY=23302;gnomADv4_1_AF_grpmax_joint=0.421769;gnomADv4_1_AF_joint=0.313492;gnomADv4_1_AF_joint_XX=0.313418;gnomADv4_1_AF_joint_XY=0.31357;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152026;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9201;gnomADv4_1_nhomalt_joint_XX=4732;gnomADv4_1_nhomalt_joint_XY=4469;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29035638 chr22_29035638_T_C T C 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.188;CADD_Rawscore=-0.442512;CSQ=C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs1883197|4162|-1||HGNC|HGNC:41927|2||||||||Ensembl||T|T||||chr22:g.29035638T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-6857T>C|||||||rs1883197||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29035638T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-6857T>C|||||||rs1883197||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29035638T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-6857T>C|||||||rs1883197||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29035638T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs1883197|4269|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29035638T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs1883197|4276|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29035638T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs1883197|4105|-1||HGNC|HGNC:41927|||||||||Ensembl||T|T||||chr22:g.29035638T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-6857T>C|||||||rs1883197||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29035638T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-6857T>C|||||||rs1883197||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29035638T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs1883197|4162|-1||EntrezGene|HGNC:41927|||||||||RefSeq||T|T||||chr22:g.29035638T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-11|-41|-4|32;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82924;gnomADv4_1_AC_joint_XX=42559;gnomADv4_1_AC_joint_XY=40365;gnomADv4_1_AF_grpmax_joint=0.585231;gnomADv4_1_AF_joint=0.54584;gnomADv4_1_AF_joint_XX=0.54813;gnomADv4_1_AF_joint_XY=0.543446;gnomADv4_1_AN_grpmax_joint=41452;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22794;gnomADv4_1_nhomalt_joint_XX=11775;gnomADv4_1_nhomalt_joint_XY=11019;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29035875 chr22_29035875_C_T C T 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.564;CADD_Rawscore=0.230605;CSQ=T|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs2103544|4399|-1||HGNC|HGNC:41927|2||||||||Ensembl||C|C||||chr22:g.29035875C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-6620C>T|||||||rs2103544||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29035875C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-6620C>T|||||||rs2103544||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29035875C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-6620C>T|||||||rs2103544||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29035875C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs2103544|4506|-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29035875C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs2103544|4513|-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29035875C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs2103544|4342|-1||HGNC|HGNC:41927|||||||||Ensembl||C|C||||chr22:g.29035875C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-6620C>T|||||||rs2103544||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29035875C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-6620C>T|||||||rs2103544||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29035875C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs2103544|4399|-1||EntrezGene|HGNC:41927|||||||||RefSeq||C|C||||chr22:g.29035875C>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|23|43|-16|-18;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=67361;gnomADv4_1_AC_joint_XX=34591;gnomADv4_1_AC_joint_XY=32770;gnomADv4_1_AF_grpmax_joint=0.495513;gnomADv4_1_AF_joint=0.443269;gnomADv4_1_AF_joint_XX=0.445198;gnomADv4_1_AF_joint_XY=0.441252;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15402;gnomADv4_1_nhomalt_joint_XX=7965;gnomADv4_1_nhomalt_joint_XY=7437;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29035927 chr22_29035927_A_T A T 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=9.341;CADD_Rawscore=0.908354;CSQ=T|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000325660|lncRNA||||||||||rs2881726|4451|-1||HGNC|HGNC:41927|2||||||||Ensembl||A|A||||chr22:g.29035927A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-6568A>T|||||||rs2881726||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29035927A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-6568A>T|||||||rs2881726||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29035927A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-6568A>T|||||||rs2881726||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29035927A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796000|lncRNA||||||||||rs2881726|4558|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29035927A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796001|lncRNA||||||||||rs2881726|4565|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29035927A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3-AS1|ENSG00000177993|Transcript|ENST00000796002|lncRNA||||||||||rs2881726|4394|-1||HGNC|HGNC:41927|||||||||Ensembl||A|A||||chr22:g.29035927A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-6568A>T|||||||rs2881726||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29035927A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-6568A>T|||||||rs2881726||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29035927A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZNRF3-AS1|100874123|Transcript|NR_046851.1|lncRNA||||||||||rs2881726|4451|-1||EntrezGene|HGNC:41927|||||||||RefSeq||A|A||||chr22:g.29035927A>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|3|-9|-41|41;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000325660,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000796000,ENST00000796001,ENST00000796002,NM_001206998.2,NM_032173.4,NR_046851.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000177993,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000177993,ENSG00000177993,ENSG00000177993,84133,84133,100874123;VEP_SYMBOL=ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3,ZNRF3-AS1,ZNRF3-AS1,ZNRF3-AS1,ZNRF3,ZNRF3,ZNRF3-AS1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43176;gnomADv4_1_AC_joint_XX=22175;gnomADv4_1_AC_joint_XY=21001;gnomADv4_1_AF_grpmax_joint=0.394611;gnomADv4_1_AF_joint=0.284277;gnomADv4_1_AF_joint_XX=0.28554;gnomADv4_1_AF_joint_XY=0.282956;gnomADv4_1_AN_grpmax_joint=67920;gnomADv4_1_AN_joint=151880;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=74220;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7633;gnomADv4_1_nhomalt_joint_XX=3969;gnomADv4_1_nhomalt_joint_XY=3664;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29036734 chr22_29036734_G_A G A 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.284;CADD_Rawscore=-0.33646;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-5761G>A|||||||rs6005965||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29036734G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-5761G>A|||||||rs6005965||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29036734G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-5761G>A|||||||rs6005965||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29036734G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-5761G>A|||||||rs6005965||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29036734G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-5761G>A|||||||rs6005965||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29036734G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|-12|-39|12|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=81823;gnomADv4_1_AC_joint_XX=42196;gnomADv4_1_AC_joint_XY=39627;gnomADv4_1_AF_grpmax_joint=0.619381;gnomADv4_1_AF_joint=0.538338;gnomADv4_1_AF_joint_XX=0.543105;gnomADv4_1_AF_joint_XY=0.533352;gnomADv4_1_AN_grpmax_joint=41464;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22327;gnomADv4_1_nhomalt_joint_XX=11632;gnomADv4_1_nhomalt_joint_XY=10695;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29037107 chr22_29037107_C_T C T 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=5.262;CADD_Rawscore=0.480592;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-5388C>T|||||||rs4820794||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29037107C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-5388C>T|||||||rs4820794||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29037107C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-5388C>T|||||||rs4820794||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29037107C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-5388C>T|||||||rs4820794||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29037107C>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-5388C>T|||||||rs4820794||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29037107C>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|10|-6|-21|10;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=73428;gnomADv4_1_AC_joint_XX=37447;gnomADv4_1_AC_joint_XY=35981;gnomADv4_1_AF_grpmax_joint=0.54157;gnomADv4_1_AF_joint=0.483321;gnomADv4_1_AF_joint_XX=0.482167;gnomADv4_1_AF_joint_XY=0.484527;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=151924;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18133;gnomADv4_1_nhomalt_joint_XX=9256;gnomADv4_1_nhomalt_joint_XY=8877;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29038117 chr22_29038117_A_G A G 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=4.037;CADD_Rawscore=0.368502;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-4378A>G|||||||rs9613782||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29038117A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-4378A>G|||||||rs9613782||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29038117A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-4378A>G|||||||rs9613782||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29038117A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-4378A>G|||||||rs9613782||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29038117A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-4378A>G|||||||rs9613782||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29038117A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|-31|-3|-50|-3;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=48030;gnomADv4_1_AC_joint_XX=24527;gnomADv4_1_AC_joint_XY=23503;gnomADv4_1_AF_grpmax_joint=0.424658;gnomADv4_1_AF_joint=0.315804;gnomADv4_1_AF_joint_XX=0.315509;gnomADv4_1_AF_joint_XY=0.316113;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9277;gnomADv4_1_nhomalt_joint_XX=4772;gnomADv4_1_nhomalt_joint_XY=4505;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29038967 chr22_29038967_G_T G T 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.299;CADD_Rawscore=-0.323255;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-3528G>T|||||||rs932302||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29038967G>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-3528G>T|||||||rs932302||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29038967G>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-3528G>T|||||||rs932302||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29038967G>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-3528G>T|||||||rs932302||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29038967G>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-3528G>T|||||||rs932302||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29038967G>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|3|1|3|1;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=40516;gnomADv4_1_AC_joint_XX=21016;gnomADv4_1_AC_joint_XY=19500;gnomADv4_1_AF_grpmax_joint=0.35023;gnomADv4_1_AF_joint=0.273398;gnomADv4_1_AF_joint_XX=0.276854;gnomADv4_1_AF_joint_XY=0.269769;gnomADv4_1_AN_grpmax_joint=14776;gnomADv4_1_AN_joint=148194;gnomADv4_1_AN_joint_XX=75910;gnomADv4_1_AN_joint_XY=72284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=5615;gnomADv4_1_nhomalt_joint_XX=2993;gnomADv4_1_nhomalt_joint_XY=2622;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29039409 chr22_29039409_C_A C A 59 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.23;CADD_Rawscore=-0.390391;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-3086C>A|||||||rs1983553||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29039409C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-3086C>A|||||||rs1983553||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29039409C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-3086C>A|||||||rs1983553||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29039409C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-3086C>A|||||||rs1983553||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29039409C>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-3086C>A|||||||rs1983553||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29039409C>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|0|-38|-5|-38;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=84320;gnomADv4_1_AC_joint_XX=43346;gnomADv4_1_AC_joint_XY=40974;gnomADv4_1_AF_grpmax_joint=0.625863;gnomADv4_1_AF_joint=0.555241;gnomADv4_1_AF_joint_XX=0.558093;gnomADv4_1_AF_joint_XY=0.552255;gnomADv4_1_AN_grpmax_joint=41426;gnomADv4_1_AN_joint=151862;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74194;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23697;gnomADv4_1_nhomalt_joint_XX=12281;gnomADv4_1_nhomalt_joint_XY=11416;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29039784 chr22_29039784_CA_C CA C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=41;CADDIndel_PHREDscore=0.18;CADDIndel_Rawscore=-0.454776;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-2686del|||||||rs397976678||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1|24|chr22:g.29039809del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-2686del|||||||rs397976678||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1|24|chr22:g.29039809del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-2686del|||||||rs397976678||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1|24|chr22:g.29039809del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-2686del|||||||rs397976678||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A|||24|chr22:g.29039809del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-2686del|||||||rs397976678||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A|||24|chr22:g.29039809del|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-19|30|2|-19;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=29653;gnomADv4_1_AC_joint_XX=16061;gnomADv4_1_AC_joint_XY=13592;gnomADv4_1_AF_grpmax_joint=0.422078;gnomADv4_1_AF_joint=0.348203;gnomADv4_1_AF_joint_XX=0.351106;gnomADv4_1_AF_joint_XY=0.344835;gnomADv4_1_AN_grpmax_joint=154;gnomADv4_1_AN_joint=85160;gnomADv4_1_AN_joint_XX=45744;gnomADv4_1_AN_joint_XY=39416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3491;gnomADv4_1_nhomalt_joint_XX=1840;gnomADv4_1_nhomalt_joint_XY=1651;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29039908 chr22_29039908_A_G A G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.909;CADD_Rawscore=-0.042438;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-2587A>G|||||||rs9608721||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29039908A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-2587A>G|||||||rs9608721||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29039908A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-2587A>G|||||||rs9608721||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29039908A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-2587A>G|||||||rs9608721||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29039908A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-2587A>G|||||||rs9608721||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29039908A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|22|-8|22|-8;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=74216;gnomADv4_1_AC_joint_XX=37898;gnomADv4_1_AC_joint_XY=36318;gnomADv4_1_AF_grpmax_joint=0.540907;gnomADv4_1_AF_joint=0.488778;gnomADv4_1_AF_joint_XX=0.487999;gnomADv4_1_AF_joint_XY=0.489593;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=151840;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=74180;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18434;gnomADv4_1_nhomalt_joint_XX=9436;gnomADv4_1_nhomalt_joint_XY=8998;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29042339 chr22_29042339_A_T A T 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=5.101;CADD_Rawscore=0.465337;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||2/8|ENST00000402174.5:c.127-156A>T|||||||rs12484832||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29042339A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||1/7|ENST00000406323.3:c.127-156A>T|||||||rs12484832||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29042339A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||2/8|ENST00000544604.7:c.427-156A>T|||||||rs12484832||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29042339A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||2/8|NM_001206998.2:c.427-156A>T|||||||rs12484832||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29042339A>T|||||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||2/8|NM_032173.4:c.127-156A>T|||||||rs12484832||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29042339A>T|||||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|48|-5|-2|50;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=66857;gnomADv4_1_AC_joint_XX=34229;gnomADv4_1_AC_joint_XY=32628;gnomADv4_1_AF_grpmax_joint=0.490904;gnomADv4_1_AF_joint=0.439745;gnomADv4_1_AF_joint_XX=0.440448;gnomADv4_1_AF_joint_XY=0.439009;gnomADv4_1_AN_grpmax_joint=67944;gnomADv4_1_AN_joint=152036;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15204;gnomADv4_1_nhomalt_joint_XX=7803;gnomADv4_1_nhomalt_joint_XY=7401;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29042766 chr22_29042766_A_AG A AG 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.586;CADDIndel_Rawscore=-0.153454;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||3/8|ENST00000402174.5:c.201+202dup|||||||rs67028298||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|5|chr22:g.29042771dup|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||2/7|ENST00000406323.3:c.201+202dup|||||||rs67028298||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1|5|chr22:g.29042771dup|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||3/8|ENST00000544604.7:c.501+202dup|||||||rs67028298||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|5|chr22:g.29042771dup|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||3/8|NM_001206998.2:c.501+202dup|||||||rs67028298||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||5|chr22:g.29042771dup|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||3/8|NM_032173.4:c.201+202dup|||||||rs67028298||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||5|chr22:g.29042771dup|||||||||||||;SpliceAI=AG|ZNRF3|0.00|0.00|0.00|0.00|1|30|-40|29;TYPE=INDEL;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=66558;gnomADv4_1_AC_joint_XX=34140;gnomADv4_1_AC_joint_XY=32418;gnomADv4_1_AF_grpmax_joint=0.490991;gnomADv4_1_AF_joint=0.439396;gnomADv4_1_AF_joint_XX=0.440357;gnomADv4_1_AF_joint_XY=0.438389;gnomADv4_1_AN_grpmax_joint=67824;gnomADv4_1_AN_joint=151476;gnomADv4_1_AN_joint_XX=77528;gnomADv4_1_AN_joint_XY=73948;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15145;gnomADv4_1_nhomalt_joint_XX=7788;gnomADv4_1_nhomalt_joint_XY=7357;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29042797 chr22_29042797_T_C T C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.205;CADD_Rawscore=-0.420849;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||3/8|ENST00000402174.5:c.201+228T>C|||||||rs28541979||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29042797T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||2/7|ENST00000406323.3:c.201+228T>C|||||||rs28541979||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29042797T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||3/8|ENST00000544604.7:c.501+228T>C|||||||rs28541979||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29042797T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||3/8|NM_001206998.2:c.501+228T>C|||||||rs28541979||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29042797T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||3/8|NM_032173.4:c.201+228T>C|||||||rs28541979||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29042797T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|23|-1|23|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=74603;gnomADv4_1_AC_joint_XX=38119;gnomADv4_1_AC_joint_XY=36484;gnomADv4_1_AF_grpmax_joint=0.537905;gnomADv4_1_AF_joint=0.492384;gnomADv4_1_AF_joint_XX=0.491465;gnomADv4_1_AF_joint_XY=0.493347;gnomADv4_1_AN_grpmax_joint=5118;gnomADv4_1_AN_joint=151514;gnomADv4_1_AN_joint_XX=77562;gnomADv4_1_AN_joint_XY=73952;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18660;gnomADv4_1_nhomalt_joint_XX=9551;gnomADv4_1_nhomalt_joint_XY=9109;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29043048 chr22_29043048_T_C T C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.231;CADD_Rawscore=0.03635;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||3/8|ENST00000402174.5:c.202-251T>C|||||||rs9613784||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29043048T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||2/7|ENST00000406323.3:c.202-251T>C|||||||rs9613784||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29043048T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||3/8|ENST00000544604.7:c.502-251T>C|||||||rs9613784||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29043048T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||3/8|NM_001206998.2:c.502-251T>C|||||||rs9613784||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29043048T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||3/8|NM_032173.4:c.202-251T>C|||||||rs9613784||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29043048T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-11|10|2|4;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=74317;gnomADv4_1_AC_joint_XX=37937;gnomADv4_1_AC_joint_XY=36380;gnomADv4_1_AF_grpmax_joint=0.540768;gnomADv4_1_AF_joint=0.490101;gnomADv4_1_AF_joint_XX=0.48932;gnomADv4_1_AF_joint_XY=0.490918;gnomADv4_1_AN_grpmax_joint=5102;gnomADv4_1_AN_joint=151636;gnomADv4_1_AN_joint_XX=77530;gnomADv4_1_AN_joint_XY=74106;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18451;gnomADv4_1_nhomalt_joint_XX=9430;gnomADv4_1_nhomalt_joint_XY=9021;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29043213 chr22_29043213_G_A G A 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.034;CADD_Rawscore=-0.90708;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||3/8|ENST00000402174.5:c.202-86G>A|||||||rs9613785||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29043213G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||2/7|ENST00000406323.3:c.202-86G>A|||||||rs9613785||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29043213G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||3/8|ENST00000544604.7:c.502-86G>A|||||||rs9613785||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29043213G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||3/8|NM_001206998.2:c.502-86G>A|||||||rs9613785||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29043213G>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||3/8|NM_032173.4:c.202-86G>A|||||||rs9613785||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29043213G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.02|0.00|17|-43|-8|44;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=682488;gnomADv4_1_AC_joint_XX=347843;gnomADv4_1_AC_joint_XY=334645;gnomADv4_1_AF_grpmax_joint=0.522783;gnomADv4_1_AF_joint=0.471275;gnomADv4_1_AF_joint_XX=0.473521;gnomADv4_1_AF_joint_XY=0.468962;gnomADv4_1_AN_grpmax_joint=40864;gnomADv4_1_AN_joint=1448174;gnomADv4_1_AN_joint_XX=734588;gnomADv4_1_AN_joint_XY=713586;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=163233;gnomADv4_1_nhomalt_joint_XX=83450;gnomADv4_1_nhomalt_joint_XY=79783;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29043951 chr22_29043951_T_A T A 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.354;CADD_Rawscore=0.207418;CSQ=A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||4/8|ENST00000402174.5:c.333+521T>A|||||||rs738246||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29043951T>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||3/7|ENST00000406323.3:c.333+521T>A|||||||rs738246||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29043951T>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||4/8|ENST00000544604.7:c.633+521T>A|||||||rs738246||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29043951T>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||4/8|NM_001206998.2:c.633+521T>A|||||||rs738246||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29043951T>A|||||||||||||,A|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||4/8|NM_032173.4:c.333+521T>A|||||||rs738246||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29043951T>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TS2|enhancer||||||||||rs738246|||||||||||||||||||||chr22:g.29043951T>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|49|9|49|7;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4,ENSR22_C4TS2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=66618;gnomADv4_1_AC_joint_XX=34101;gnomADv4_1_AC_joint_XY=32517;gnomADv4_1_AF_grpmax_joint=0.490966;gnomADv4_1_AF_joint=0.437994;gnomADv4_1_AF_joint_XX=0.4387;gnomADv4_1_AF_joint_XY=0.437256;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15131;gnomADv4_1_nhomalt_joint_XX=7764;gnomADv4_1_nhomalt_joint_XY=7367;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29044704 chr22_29044704_A_C A C 59 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.073;CADD_Rawscore=0.000359;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||4/8|ENST00000402174.5:c.334-76A>C|||||||rs713834||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29044704A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||3/7|ENST00000406323.3:c.334-76A>C|||||||rs713834||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29044704A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||4/8|ENST00000544604.7:c.634-76A>C|||||||rs713834||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29044704A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||4/8|NM_001206998.2:c.634-76A>C|||||||rs713834||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29044704A>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||4/8|NM_032173.4:c.334-76A>C|||||||rs713834||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29044704A>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TS2|enhancer||||||||||rs713834|||||||||||||||||||||chr22:g.29044704A>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|9|4|-24|-11;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4,ENSR22_C4TS2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133,.;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=525171;gnomADv4_1_AC_joint_XX=253745;gnomADv4_1_AC_joint_XY=271426;gnomADv4_1_AF_grpmax_joint=0.571759;gnomADv4_1_AF_joint=0.510783;gnomADv4_1_AF_joint_XX=0.512353;gnomADv4_1_AF_joint_XY=0.509324;gnomADv4_1_AN_grpmax_joint=41974;gnomADv4_1_AN_joint=1028168;gnomADv4_1_AN_joint_XX=495254;gnomADv4_1_AN_joint_XY=532914;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=135036;gnomADv4_1_nhomalt_joint_XX=65429;gnomADv4_1_nhomalt_joint_XY=69607;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29045362 chr22_29045362_CA_C CA C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=43;CADDIndel_PHREDscore=0.585;CADDIndel_Rawscore=-0.153752;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||5/8|ENST00000402174.5:c.444+492del|||||||rs59285656||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1|19|chr22:g.29045382del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||4/7|ENST00000406323.3:c.444+492del|||||||rs59285656||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1|19|chr22:g.29045382del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||5/8|ENST00000544604.7:c.744+492del|||||||rs59285656||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1|19|chr22:g.29045382del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||5/8|NM_001206998.2:c.744+492del|||||||rs59285656||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A|||19|chr22:g.29045382del|||||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||5/8|NM_032173.4:c.444+492del|||||||rs59285656||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A|||19|chr22:g.29045382del|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|9|-17|4|-17;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=45824;gnomADv4_1_AC_joint_XX=24291;gnomADv4_1_AC_joint_XY=21533;gnomADv4_1_AF_grpmax_joint=0.517241;gnomADv4_1_AF_joint=0.468366;gnomADv4_1_AF_joint_XX=0.468956;gnomADv4_1_AF_joint_XY=0.467702;gnomADv4_1_AN_grpmax_joint=174;gnomADv4_1_AN_joint=97838;gnomADv4_1_AN_joint_XX=51798;gnomADv4_1_AN_joint_XY=46040;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7407;gnomADv4_1_nhomalt_joint_XX=3927;gnomADv4_1_nhomalt_joint_XY=3480;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29047721 chr22_29047721_A_G A G 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.202;CADD_Rawscore=-0.42374;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||6/8|ENST00000402174.5:c.613-668A>G|||||||rs727892||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29047721A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||5/7|ENST00000406323.3:c.613-668A>G|||||||rs727892||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29047721A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||6/8|ENST00000544604.7:c.913-668A>G|||||||rs727892||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29047721A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||6/8|NM_001206998.2:c.913-668A>G|||||||rs727892||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29047721A>G|||||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||6/8|NM_032173.4:c.613-668A>G|||||||rs727892||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29047721A>G|||||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|8|-28|-22|8;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=69746;gnomADv4_1_AC_joint_XX=35817;gnomADv4_1_AC_joint_XY=33929;gnomADv4_1_AF_grpmax_joint=0.491423;gnomADv4_1_AF_joint=0.458662;gnomADv4_1_AF_joint_XX=0.460775;gnomADv4_1_AF_joint_XY=0.456452;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16298;gnomADv4_1_nhomalt_joint_XX=8407;gnomADv4_1_nhomalt_joint_XY=7891;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29050623 chr22_29050623_A_C A C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=6.598;CADD_Rawscore=0.615072;CSQ=C|synonymous_variant|LOW|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding|8/9||ENST00000402174.5%3Ac.2142A>C|ENSP00000384456.1%3Ap.Pro714%3D|2235|2142|714|P|ccA/ccC|rs5997435||1||HGNC|HGNC%3A18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22%3Ag.29050623A>C|||||||||||||,C|synonymous_variant|LOW|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding|7/8||ENST00000406323.3%3Ac.2142A>C|ENSP00000384553.3%3Ap.Pro714%3D|2166|2142|714|P|ccA/ccC|rs5997435||1||HGNC|HGNC%3A18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22%3Ag.29050623A>C|||||||||||||,C|synonymous_variant|LOW|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding|8/9||ENST00000544604.7%3Ac.2442A>C|ENSP00000443824.2%3Ap.Pro814%3D|2637|2442|814|P|ccA/ccC|rs5997435||1||HGNC|HGNC%3A18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22%3Ag.29050623A>C|||||||||||||,C|synonymous_variant|LOW|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding|8/9||NM_001206998.2%3Ac.2442A>C|NP_001193927.1%3Ap.Pro814%3D|2637|2442|814|P|ccA/ccC|rs5997435||1||EntrezGene|HGNC%3A18126|||NP_001193927.1||||||RefSeq||A|A||||chr22%3Ag.29050623A>C|||||||||||||,C|synonymous_variant|LOW|ZNRF3|84133|Transcript|NM_032173.4|protein_coding|8/9||NM_032173.4%3Ac.2142A>C|NP_115549.2%3Ap.Pro714%3D|2235|2142|714|P|ccA/ccC|rs5997435||1||EntrezGene|HGNC%3A18126|||NP_115549.2||||||RefSeq||A|A||||chr22%3Ag.29050623A>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.05|0.00|40|-20|-33|40;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=826972;gnomADv4_1_AC_joint_XX=418071;gnomADv4_1_AC_joint_XY=408901;gnomADv4_1_AF_grpmax_joint=0.569614;gnomADv4_1_AF_joint=0.514086;gnomADv4_1_AF_joint_XX=0.516105;gnomADv4_1_AF_joint_XY=0.512038;gnomADv4_1_AN_grpmax_joint=74856;gnomADv4_1_AN_joint=1608626;gnomADv4_1_AN_joint_XX=810050;gnomADv4_1_AN_joint_XY=798576;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=213932;gnomADv4_1_nhomalt_joint_XX=108410;gnomADv4_1_nhomalt_joint_XY=105522;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29050707 chr22_29050707_G_A G A 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=4.445;CADD_Rawscore=0.404915;CSQ=A|synonymous_variant|LOW|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding|8/9||ENST00000402174.5%3Ac.2226G>A|ENSP00000384456.1%3Ap.Leu742%3D|2319|2226|742|L|ctG/ctA|rs55962108||1||HGNC|HGNC%3A18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22%3Ag.29050707G>A|||||||||||||,A|synonymous_variant|LOW|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding|7/8||ENST00000406323.3%3Ac.2226G>A|ENSP00000384553.3%3Ap.Leu742%3D|2250|2226|742|L|ctG/ctA|rs55962108||1||HGNC|HGNC%3A18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22%3Ag.29050707G>A|||||||||||||,A|synonymous_variant|LOW|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding|8/9||ENST00000544604.7%3Ac.2526G>A|ENSP00000443824.2%3Ap.Leu842%3D|2721|2526|842|L|ctG/ctA|rs55962108||1||HGNC|HGNC%3A18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22%3Ag.29050707G>A|||||||||||||,A|synonymous_variant|LOW|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding|8/9||NM_001206998.2%3Ac.2526G>A|NP_001193927.1%3Ap.Leu842%3D|2721|2526|842|L|ctG/ctA|rs55962108||1||EntrezGene|HGNC%3A18126|||NP_001193927.1||||||RefSeq||G|G||||chr22%3Ag.29050707G>A|||||||||||||,A|synonymous_variant|LOW|ZNRF3|84133|Transcript|NM_032173.4|protein_coding|8/9||NM_032173.4%3Ac.2226G>A|NP_115549.2%3Ap.Leu742%3D|2319|2226|742|L|ctG/ctA|rs55962108||1||EntrezGene|HGNC%3A18126|||NP_115549.2||||||RefSeq||G|G||||chr22%3Ag.29050707G>A|||||||||||||;SpliceAI=A|ZNRF3|0.00|0.00|0.00|0.00|-25|40|-25|40;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=37718;gnomADv4_1_AC_joint_XX=18743;gnomADv4_1_AC_joint_XY=18975;gnomADv4_1_AF_grpmax_joint=0.0351601;gnomADv4_1_AF_joint=0.0234015;gnomADv4_1_AF_joint_XX=0.0231011;gnomADv4_1_AF_joint_XY=0.0237061;gnomADv4_1_AN_grpmax_joint=6058;gnomADv4_1_AN_joint=1611774;gnomADv4_1_AN_joint_XX=811346;gnomADv4_1_AN_joint_XY=800428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=568;gnomADv4_1_nhomalt_joint_XX=257;gnomADv4_1_nhomalt_joint_XY=311;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29050987 chr22_29050987_T_C T C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.993;CADD_Rawscore=0.552503;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||8/8|ENST00000402174.5:c.2467+39T>C|||||||rs6005967||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29050987T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||7/7|ENST00000406323.3:c.2467+39T>C|||||||rs6005967||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29050987T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||8/8|ENST00000544604.7:c.2767+39T>C|||||||rs6005967||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29050987T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||8/8|NM_001206998.2:c.2767+39T>C|||||||rs6005967||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29050987T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||8/8|NM_032173.4:c.2467+39T>C|||||||rs6005967||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29050987T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|31|-39|-39|-16;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=701474;gnomADv4_1_AC_joint_XX=360456;gnomADv4_1_AC_joint_XY=341018;gnomADv4_1_AF_grpmax_joint=0.489104;gnomADv4_1_AF_joint=0.470122;gnomADv4_1_AF_joint_XX=0.472536;gnomADv4_1_AF_joint_XY=0.467596;gnomADv4_1_AN_grpmax_joint=1127136;gnomADv4_1_AN_joint=1492112;gnomADv4_1_AN_joint_XX=762812;gnomADv4_1_AN_joint_XY=729300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=167326;gnomADv4_1_nhomalt_joint_XX=86126;gnomADv4_1_nhomalt_joint_XY=81200;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29051123 chr22_29051123_C_T C T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=10.62;CADD_Rawscore=1.02536;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||8/8|ENST00000402174.5:c.2467+175C>T|||||||rs11704898||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29051123C>T|||1||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||7/7|ENST00000406323.3:c.2467+175C>T|||||||rs11704898||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29051123C>T|||1||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||8/8|ENST00000544604.7:c.2767+175C>T|||||||rs11704898||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29051123C>T|||1||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||8/8|NM_001206998.2:c.2767+175C>T|||||||rs11704898||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29051123C>T|||1||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||8/8|NM_032173.4:c.2467+175C>T|||||||rs11704898||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29051123C>T|||1||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|-47|-7|-38|1;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=47216;gnomADv4_1_AC_joint_XX=24126;gnomADv4_1_AC_joint_XY=23090;gnomADv4_1_AF_grpmax_joint=0.42517;gnomADv4_1_AF_joint=0.310452;gnomADv4_1_AF_joint_XX=0.31027;gnomADv4_1_AF_joint_XY=0.310642;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8953;gnomADv4_1_nhomalt_joint_XX=4601;gnomADv4_1_nhomalt_joint_XY=4352;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29052420 chr22_29052420_T_C T C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.071;CADD_Rawscore=-0.704248;CSQ=C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||8/8|ENST00000402174.5:c.2468-1159T>C|||||||rs6519770||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29052420T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||7/7|ENST00000406323.3:c.2468-1159T>C|||||||rs6519770||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29052420T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||8/8|ENST00000544604.7:c.2768-1159T>C|||||||rs6519770||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29052420T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||8/8|NM_001206998.2:c.2768-1159T>C|||||||rs6519770||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29052420T>C|||||||||||||,C|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||8/8|NM_032173.4:c.2468-1159T>C|||||||rs6519770||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29052420T>C|||||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-14|27|3|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=78214;gnomADv4_1_AC_joint_XX=39897;gnomADv4_1_AC_joint_XY=38317;gnomADv4_1_AF_grpmax_joint=0.717103;gnomADv4_1_AF_joint=0.514457;gnomADv4_1_AF_joint_XX=0.513501;gnomADv4_1_AF_joint_XY=0.515457;gnomADv4_1_AN_grpmax_joint=41478;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=21610;gnomADv4_1_nhomalt_joint_XX=11030;gnomADv4_1_nhomalt_joint_XY=10580;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29052655 chr22_29052655_C_T C T 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.597;CADD_Rawscore=0.10461;CSQ=T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||8/8|ENST00000402174.5:c.2468-924C>T|||||||rs8138950||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29052655C>T|||1||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||7/7|ENST00000406323.3:c.2468-924C>T|||||||rs8138950||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29052655C>T|||1||||||||||,T|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||8/8|ENST00000544604.7:c.2768-924C>T|||||||rs8138950||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29052655C>T|||1||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||8/8|NM_001206998.2:c.2768-924C>T|||||||rs8138950||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29052655C>T|||1||||||||||,T|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||8/8|NM_032173.4:c.2468-924C>T|||||||rs8138950||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29052655C>T|||1||||||||||;SpliceAI=T|ZNRF3|0.00|0.00|0.00|0.00|10|-19|-21|21;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=83733;gnomADv4_1_AC_joint_XX=42873;gnomADv4_1_AC_joint_XY=40860;gnomADv4_1_AF_grpmax_joint=0.642235;gnomADv4_1_AF_joint=0.558719;gnomADv4_1_AF_joint_XX=0.557545;gnomADv4_1_AF_joint_XY=0.559956;gnomADv4_1_AN_grpmax_joint=40644;gnomADv4_1_AN_joint=149866;gnomADv4_1_AN_joint_XX=76896;gnomADv4_1_AN_joint_XY=72970;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23716;gnomADv4_1_nhomalt_joint_XX=12143;gnomADv4_1_nhomalt_joint_XY=11573;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29052691 chr22_29052691_CA_C CA C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=0.155;CADDIndel_Rawscore=-0.494471;CSQ=-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||8/8|ENST00000402174.5:c.2468-871del|||||||rs35759703||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1|16|chr22:g.29052708del|||1||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||7/7|ENST00000406323.3:c.2468-871del|||||||rs35759703||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1|16|chr22:g.29052708del|||1||||||||||,-|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||8/8|ENST00000544604.7:c.2768-871del|||||||rs35759703||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1|16|chr22:g.29052708del|||1||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||8/8|NM_001206998.2:c.2768-871del|||||||rs35759703||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A|||16|chr22:g.29052708del|||1||||||||||,-|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||8/8|NM_032173.4:c.2468-871del|||||||rs35759703||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A|||16|chr22:g.29052708del|||1||||||||||;SpliceAI=C|ZNRF3|0.00|0.00|0.00|0.00|-26|19|17|-15;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=65489;gnomADv4_1_AC_joint_XX=34166;gnomADv4_1_AC_joint_XY=31323;gnomADv4_1_AF_grpmax_joint=0.63623;gnomADv4_1_AF_joint=0.554616;gnomADv4_1_AF_joint_XX=0.55258;gnomADv4_1_AF_joint_XY=0.556853;gnomADv4_1_AN_grpmax_joint=4074;gnomADv4_1_AN_joint=118080;gnomADv4_1_AN_joint_XX=61830;gnomADv4_1_AN_joint_XY=56250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15212;gnomADv4_1_nhomalt_joint_XX=7954;gnomADv4_1_nhomalt_joint_XY=7258;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29053489 chr22_29053489_A_G A G 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.025;CADD_Rawscore=-0.991452;CSQ=G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||8/8|ENST00000402174.5:c.2468-90A>G|||||||rs2294239||1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29053489A>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||7/7|ENST00000406323.3:c.2468-90A>G|||||||rs2294239||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29053489A>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||8/8|ENST00000544604.7:c.2768-90A>G|||||||rs2294239||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29053489A>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||8/8|NM_001206998.2:c.2768-90A>G|||||||rs2294239||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29053489A>G|||1||||||||||,G|intron_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||8/8|NM_032173.4:c.2468-90A>G|||||||rs2294239||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29053489A>G|||1||||||||||;SpliceAI=G|ZNRF3|0.00|0.00|0.00|0.00|3|-9|-1|-10;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_032173.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,84133;VEP_SYMBOL=ZNRF3,ZNRF3,ZNRF3,ZNRF3,ZNRF3;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=539292;gnomADv4_1_AC_joint_XX=265450;gnomADv4_1_AC_joint_XY=273842;gnomADv4_1_AF_grpmax_joint=0.505219;gnomADv4_1_AF_joint=0.418477;gnomADv4_1_AF_joint_XX=0.416187;gnomADv4_1_AF_joint_XY=0.420721;gnomADv4_1_AN_grpmax_joint=4790;gnomADv4_1_AN_joint=1288702;gnomADv4_1_AN_joint_XX=637814;gnomADv4_1_AN_joint_XY=650888;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=116093;gnomADv4_1_nhomalt_joint_XX=56867;gnomADv4_1_nhomalt_joint_XY=59226;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29053779 chr22_29053779_C_T C T 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=23;CADD_PHREDscore=8.351;CADD_Rawscore=0.806994;CSQ=T|downstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs2123892504|4893|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||C|C||||chr22:g.29053779C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs2123892504|94|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29053779C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding|8/8||ENST00000406323.3:c.*157C>T||2692|||||rs2123892504||1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29053779C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding|9/9||ENST00000544604.7:c.*157C>T||3163|||||rs2123892504||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29053779C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding|9/9||NM_001206998.2:c.*157C>T||3163|||||rs2123892504||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29053779C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs2123892504|4893|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||C|C||||chr22:g.29053779C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs2123892504|4893|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||C|C||||chr22:g.29053779C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding|9/9||NM_032173.4:c.*157C>T||2761|||||rs2123892504||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29053779C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs2123892504|4893|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||C|C||||chr22:g.29053779C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs2123892504|4893|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||C|C||||chr22:g.29053779C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216071,ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,ZNRF3,ZNRF3,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=0;gnomADv4_1_AC_joint_XX=0;gnomADv4_1_AC_joint_XY=0;gnomADv4_1_AF_joint=0.0;gnomADv4_1_AF_joint_XX=0.0;gnomADv4_1_AF_joint_XY=0.0;gnomADv4_1_AN_joint=663712;gnomADv4_1_AN_joint_XX=323104;gnomADv4_1_AN_joint_XY=340608;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29054852 chr22_29054852_TC_T TC T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.448;CADDIndel_Rawscore=-0.220489;CSQ=-|downstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs11330684|3819|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||C|C||||chr22:g.29054857del|||||||||||||,-|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs11330684|1168|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29054857del|||||||||||||,-|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs11330684|888|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||C|C||1||chr22:g.29054857del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding|9/9||ENST00000544604.7:c.*1235del||4237|||||rs11330684||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1|4|chr22:g.29054857del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding|9/9||NM_001206998.2:c.*1235del||4237|||||rs11330684||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C|||4|chr22:g.29054857del|||||||||||||,-|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs11330684|3819|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||C|C||||chr22:g.29054857del|||||||||||||,-|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs11330684|3819|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||C|C||||chr22:g.29054857del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding|9/9||NM_032173.4:c.*1235del||3835|||||rs11330684||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C|||4|chr22:g.29054857del|||||||||||||,-|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs11330684|3819|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||C|C||||chr22:g.29054857del|||||||||||||,-|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs11330684|3819|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||C|C||||chr22:g.29054857del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216071,ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,ZNRF3,ZNRF3,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81689;gnomADv4_1_AC_joint_XX=41629;gnomADv4_1_AC_joint_XY=40060;gnomADv4_1_AF_grpmax_joint=0.62781;gnomADv4_1_AF_joint=0.534516;gnomADv4_1_AF_joint_XX=0.532913;gnomADv4_1_AF_joint_XY=0.536192;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=152828;gnomADv4_1_AN_joint_XX=78116;gnomADv4_1_AN_joint_XY=74712;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=22112;gnomADv4_1_nhomalt_joint_XX=11269;gnomADv4_1_nhomalt_joint_XY=10843;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29054935 chr22_29054935_A_G A G 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=12.39;CADD_Rawscore=1.22636;CSQ=G|downstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs2179129|3737|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||A|A||||chr22:g.29054935A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs2179129|1250|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29054935A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs2179129|970|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29054935A>G|||1||||||||||,G|3_prime_UTR_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding|9/9||ENST00000544604.7:c.*1313A>G||4319|||||rs2179129||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29054935A>G|||1||||||||||,G|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding|9/9||NM_001206998.2:c.*1313A>G||4319|||||rs2179129||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29054935A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs2179129|3737|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29054935A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs2179129|3737|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||A|A||||chr22:g.29054935A>G|||1||||||||||,G|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding|9/9||NM_032173.4:c.*1313A>G||3917|||||rs2179129||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29054935A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs2179129|3737|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||A|A||||chr22:g.29054935A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs2179129|3737|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||A|A||||chr22:g.29054935A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216071,ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,ZNRF3,ZNRF3,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53192;gnomADv4_1_AC_joint_XX=26902;gnomADv4_1_AC_joint_XY=26290;gnomADv4_1_AF_grpmax_joint=0.484842;gnomADv4_1_AF_joint=0.348234;gnomADv4_1_AF_joint_XX=0.344729;gnomADv4_1_AF_joint_XY=0.351894;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152748;gnomADv4_1_AN_joint_XX=78038;gnomADv4_1_AN_joint_XY=74710;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=10420;gnomADv4_1_nhomalt_joint_XX=5231;gnomADv4_1_nhomalt_joint_XY=5189;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29055683 chr22_29055683_A_G A G 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=18.18;CADD_Rawscore=2.31379;CSQ=G|downstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs4823006|2989|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||A|A||||chr22:g.29055683A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs4823006|1998|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29055683A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs4823006|1718|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29055683A>G|||1||||||||||,G|3_prime_UTR_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding|9/9||ENST00000544604.7:c.*2061A>G||5067|||||rs4823006||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29055683A>G|||1||||||||||,G|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding|9/9||NM_001206998.2:c.*2061A>G||5067|||||rs4823006||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29055683A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs4823006|2989|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29055683A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs4823006|2989|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||A|A||||chr22:g.29055683A>G|||1||||||||||,G|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding|9/9||NM_032173.4:c.*2061A>G||4665|||||rs4823006||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29055683A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs4823006|2989|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||A|A||||chr22:g.29055683A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs4823006|2989|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||A|A||||chr22:g.29055683A>G|||1||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FJD9|enhancer||||||||||rs4823006|||||||||||||||||||||chr22:g.29055683A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216071,ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2,ENSR22_9FJD9;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,25770,25770,84133,25770,25770,.;VEP_SYMBOL=C22orf31,ZNRF3,ZNRF3,ZNRF3,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=63004;gnomADv4_1_AC_joint_XX=31726;gnomADv4_1_AC_joint_XY=31278;gnomADv4_1_AF_grpmax_joint=0.577178;gnomADv4_1_AF_joint=0.414227;gnomADv4_1_AF_joint_XX=0.408135;gnomADv4_1_AF_joint_XY=0.420595;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=13699;gnomADv4_1_nhomalt_joint_XX=6767;gnomADv4_1_nhomalt_joint_XY=6932;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29055805 chr22_29055805_G_T G T 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.198;CADD_Rawscore=-0.429517;CSQ=T|downstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs3208800|2867|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||G|G||||chr22:g.29055805G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs3208800|2120|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29055805G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs3208800|1840|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29055805G>T|||1||||||||||,T|3_prime_UTR_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding|9/9||ENST00000544604.7:c.*2183G>T||5189|||||rs3208800||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29055805G>T|||1||||||||||,T|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding|9/9||NM_001206998.2:c.*2183G>T||5189|||||rs3208800||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29055805G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs3208800|2867|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||G|G||||chr22:g.29055805G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs3208800|2867|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||G|G||||chr22:g.29055805G>T|||1||||||||||,T|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding|9/9||NM_032173.4:c.*2183G>T||4787|||||rs3208800||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29055805G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs3208800|2867|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||G|G||||chr22:g.29055805G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs3208800|2867|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||G|G||||chr22:g.29055805G>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216071,ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,ZNRF3,ZNRF3,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80834;gnomADv4_1_AC_joint_XX=41230;gnomADv4_1_AC_joint_XY=39604;gnomADv4_1_AF_grpmax_joint=0.638161;gnomADv4_1_AF_joint=0.537789;gnomADv4_1_AF_joint_XX=0.536332;gnomADv4_1_AF_joint_XY=0.539314;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=150308;gnomADv4_1_AN_joint_XX=76874;gnomADv4_1_AN_joint_XY=73434;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=21776;gnomADv4_1_nhomalt_joint_XX=11103;gnomADv4_1_nhomalt_joint_XY=10673;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29055808 chr22_29055808_T_TTTTTG T TTTTTG 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=3.84;CADDIndel_Rawscore=0.351055;CSQ=TTTTG|downstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs59463566|2863|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl|||||||chr22:g.29055818_29055822dup|||||||||||||,TTTTG|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs59463566|2123|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1||chr22:g.29055818_29055822dup|||||||||||||,TTTTG|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs59463566|1843|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1||chr22:g.29055818_29055822dup|||||||||||||,TTTTG|3_prime_UTR_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding|9/9||ENST00000544604.7:c.*2196_*2200dup||5192-5193|||||rs59463566||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|14|chr22:g.29055818_29055822dup|||||||||||||,TTTTG|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding|9/9||NM_001206998.2:c.*2196_*2200dup||5192-5193|||||rs59463566||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||14|chr22:g.29055818_29055822dup|||||||||||||,TTTTG|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs59463566|2863|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq|||||||chr22:g.29055818_29055822dup|||||||||||||,TTTTG|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs59463566|2863|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq|||||||chr22:g.29055818_29055822dup|||||||||||||,TTTTG|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding|9/9||NM_032173.4:c.*2196_*2200dup||4790-4791|||||rs59463566||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||14|chr22:g.29055818_29055822dup|||||||||||||,TTTTG|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs59463566|2863|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq|||||||chr22:g.29055818_29055822dup|||||||||||||,TTTTG|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs59463566|2863|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq|||||||chr22:g.29055818_29055822dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTTG,TTTTG,TTTTG,TTTTG,TTTTG,TTTTG,TTTTG,TTTTG,TTTTG,TTTTG;VEP_Feature=ENST00000216071,ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,ZNRF3,ZNRF3,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=85345;gnomADv4_1_AC_joint_XX=43564;gnomADv4_1_AC_joint_XY=41781;gnomADv4_1_AF_grpmax_joint=0.657187;gnomADv4_1_AF_joint=0.5641;gnomADv4_1_AF_joint_XX=0.56309;gnomADv4_1_AF_joint_XY=0.565158;gnomADv4_1_AN_grpmax_joint=41212;gnomADv4_1_AN_joint=151294;gnomADv4_1_AN_joint_XX=77366;gnomADv4_1_AN_joint_XY=73928;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24477;gnomADv4_1_nhomalt_joint_XX=12503;gnomADv4_1_nhomalt_joint_XY=11974;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29056106 chr22_29056106_C_CT C CT 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=1.177;CADDIndel_Rawscore=0.024648;CSQ=T|downstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs11403703|2565|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl|||||||chr22:g.29056118dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs11403703|2421|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1||chr22:g.29056118dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs11403703|2141|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1||chr22:g.29056118dup|||||||||||||,T|3_prime_UTR_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding|9/9||ENST00000544604.7:c.*2496dup||5490-5491|||||rs11403703||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|12|chr22:g.29056118dup|||||||||||||,T|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding|9/9||NM_001206998.2:c.*2496dup||5490-5491|||||rs11403703||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||12|chr22:g.29056118dup|||||||||||||,T|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs11403703|2565|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq|||||||chr22:g.29056118dup|||||||||||||,T|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs11403703|2565|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq|||||||chr22:g.29056118dup|||||||||||||,T|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding|9/9||NM_032173.4:c.*2496dup||5088-5089|||||rs11403703||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||12|chr22:g.29056118dup|||||||||||||,T|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs11403703|2565|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq|||||||chr22:g.29056118dup|||||||||||||,T|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs11403703|2565|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq|||||||chr22:g.29056118dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216071,ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,ZNRF3,ZNRF3,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=86012;gnomADv4_1_AC_joint_XX=44233;gnomADv4_1_AC_joint_XY=41779;gnomADv4_1_AF_grpmax_joint=0.72184;gnomADv4_1_AF_joint=0.584313;gnomADv4_1_AF_joint_XX=0.584196;gnomADv4_1_AF_joint_XY=0.584436;gnomADv4_1_AN_grpmax_joint=40164;gnomADv4_1_AN_joint=147202;gnomADv4_1_AN_joint_XX=75716;gnomADv4_1_AN_joint_XY=71486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25530;gnomADv4_1_nhomalt_joint_XX=13168;gnomADv4_1_nhomalt_joint_XY=12362;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29056290 chr22_29056290_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.979;CADD_Rawscore=-0.023257;CSQ=G|downstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs4823007|2382|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||A|A||||chr22:g.29056290A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs4823007|2605|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29056290A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs4823007|2325|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29056290A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding|9/9||ENST00000544604.7:c.*2668A>G||5674|||||rs4823007||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29056290A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding|9/9||NM_001206998.2:c.*2668A>G||5674|||||rs4823007||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29056290A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs4823007|2382|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29056290A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs4823007|2382|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||A|A||||chr22:g.29056290A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding|9/9||NM_032173.4:c.*2668A>G||5272|||||rs4823007||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29056290A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs4823007|2382|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||A|A||||chr22:g.29056290A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs4823007|2382|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||A|A||||chr22:g.29056290A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216071,ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,ZNRF3,ZNRF3,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=89220;gnomADv4_1_AC_joint_XX=45570;gnomADv4_1_AC_joint_XY=43650;gnomADv4_1_AF_grpmax_joint=0.730511;gnomADv4_1_AF_joint=0.587175;gnomADv4_1_AF_joint_XX=0.586758;gnomADv4_1_AF_joint_XY=0.58761;gnomADv4_1_AN_grpmax_joint=41460;gnomADv4_1_AN_joint=151948;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26985;gnomADv4_1_nhomalt_joint_XX=13796;gnomADv4_1_nhomalt_joint_XY=13189;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29056322 chr22_29056322_G_A G A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.737;CADD_Rawscore=-0.096066;CSQ=A|downstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs4823008|2350|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||G|G||||chr22:g.29056322G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs4823008|2637|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29056322G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs4823008|2357|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29056322G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding|9/9||ENST00000544604.7:c.*2700G>A||5706|||||rs4823008||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29056322G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding|9/9||NM_001206998.2:c.*2700G>A||5706|||||rs4823008||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29056322G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs4823008|2350|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||G|G||||chr22:g.29056322G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs4823008|2350|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||G|G||||chr22:g.29056322G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding|9/9||NM_032173.4:c.*2700G>A||5304|||||rs4823008||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29056322G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs4823008|2350|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||G|G||||chr22:g.29056322G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs4823008|2350|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||G|G||||chr22:g.29056322G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216071,ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,ZNRF3,ZNRF3,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82121;gnomADv4_1_AC_joint_XX=41852;gnomADv4_1_AC_joint_XY=40269;gnomADv4_1_AF_grpmax_joint=0.635152;gnomADv4_1_AF_joint=0.540448;gnomADv4_1_AF_joint_XX=0.538885;gnomADv4_1_AF_joint_XY=0.542081;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=151950;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=22458;gnomADv4_1_nhomalt_joint_XX=11440;gnomADv4_1_nhomalt_joint_XY=11018;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29057039 chr22_29057039_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=6.431;CADD_Rawscore=0.597466;CSQ=G|downstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs3178915|1633|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||A|A||||chr22:g.29057039A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs3178915|3354|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29057039A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs3178915|3074|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29057039A>G|||1||||||||||,G|3_prime_UTR_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding|9/9||ENST00000544604.7:c.*3417A>G||6423|||||rs3178915||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29057039A>G|||1||||||||||,G|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding|9/9||NM_001206998.2:c.*3417A>G||6423|||||rs3178915||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29057039A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs3178915|1633|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29057039A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs3178915|1633|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||A|A||||chr22:g.29057039A>G|||1||||||||||,G|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding|9/9||NM_032173.4:c.*3417A>G||6021|||||rs3178915||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29057039A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs3178915|1633|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||A|A||||chr22:g.29057039A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs3178915|1633|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||A|A||||chr22:g.29057039A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216071,ENST00000402174,ENST00000406323,ENST00000544604,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000183579,ENSG00000183579,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,ZNRF3,ZNRF3,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84102;gnomADv4_1_AC_joint_XX=42886;gnomADv4_1_AC_joint_XY=41216;gnomADv4_1_AF_grpmax_joint=0.636759;gnomADv4_1_AF_joint=0.553048;gnomADv4_1_AF_joint_XX=0.551631;gnomADv4_1_AF_joint_XY=0.55453;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=23587;gnomADv4_1_nhomalt_joint_XX=12024;gnomADv4_1_nhomalt_joint_XY=11563;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29057205 chr22_29057205_G_C G C 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=17.51;CADD_Rawscore=2.16551;CSQ=C|downstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs12321|1467|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||G|G||||chr22:g.29057205G>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs12321|3520|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29057205G>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs12321|3240|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||G|G||1||chr22:g.29057205G>C|||1||||||||||,C|3_prime_UTR_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding|9/9||ENST00000544604.7:c.*3583G>C||6589|||||rs12321||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29057205G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs12321|4891|1||||||||||||Ensembl||G|G||||chr22:g.29057205G>C|||1||||||||||,C|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding|9/9||NM_001206998.2:c.*3583G>C||6589|||||rs12321||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29057205G>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs12321|1467|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||G|G||||chr22:g.29057205G>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs12321|1467|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||G|G||||chr22:g.29057205G>C|||1||||||||||,C|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding|9/9||NM_032173.4:c.*3583G>C||6187|||||rs12321||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29057205G>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs12321|1467|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||G|G||||chr22:g.29057205G>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs12321|1467|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||G|G||||chr22:g.29057205G>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216071,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000728998,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000295282,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,ZNRF3,ZNRF3,.,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59265;gnomADv4_1_AC_joint_XX=30037;gnomADv4_1_AC_joint_XY=29228;gnomADv4_1_AF_grpmax_joint=0.508306;gnomADv4_1_AF_joint=0.390081;gnomADv4_1_AF_joint_XX=0.386666;gnomADv4_1_AF_joint_XY=0.393654;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=151930;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=12179;gnomADv4_1_nhomalt_joint_XX=6116;gnomADv4_1_nhomalt_joint_XY=6063;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29057454 chr22_29057454_T_TA T TA 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=15.61;CADDIndel_Rawscore=1.76292;CSQ=A|downstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs3215453|1217|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl|||||||chr22:g.29057464dup|||1||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs3215453|3769|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1||chr22:g.29057464dup|||1||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs3215453|3489|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl|||||1||chr22:g.29057464dup|||1||||||||||,A|3_prime_UTR_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding|9/9||ENST00000544604.7:c.*3842dup||6838-6839|||||rs3215453||1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1|10|chr22:g.29057464dup|||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs3215453|4641|1||||||||||||Ensembl|||||||chr22:g.29057464dup|||1||||||||||,A|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding|9/9||NM_001206998.2:c.*3842dup||6838-6839|||||rs3215453||1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||||||10|chr22:g.29057464dup|||1||||||||||,A|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs3215453|1217|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq|||||||chr22:g.29057464dup|||1||||||||||,A|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs3215453|1217|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq|||||||chr22:g.29057464dup|||1||||||||||,A|3_prime_UTR_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding|9/9||NM_032173.4:c.*3842dup||6436-6437|||||rs3215453||1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||||||10|chr22:g.29057464dup|||1||||||||||,A|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs3215453|1217|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq|||||||chr22:g.29057464dup|||1||||||||||,A|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs3215453|1217|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq|||||||chr22:g.29057464dup|||1||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216071,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000728998,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000295282,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,ZNRF3,ZNRF3,.,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=79417;gnomADv4_1_AC_joint_XX=40429;gnomADv4_1_AC_joint_XY=38988;gnomADv4_1_AF_grpmax_joint=0.635299;gnomADv4_1_AF_joint=0.527407;gnomADv4_1_AF_joint_XX=0.524575;gnomADv4_1_AF_joint_XY=0.530377;gnomADv4_1_AN_grpmax_joint=4782;gnomADv4_1_AN_joint=150580;gnomADv4_1_AN_joint_XX=77070;gnomADv4_1_AN_joint_XY=73510;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=21012;gnomADv4_1_nhomalt_joint_XX=10650;gnomADv4_1_nhomalt_joint_XY=10362;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29058041 chr22_29058041_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.647;CADD_Rawscore=-0.128571;CSQ=G|downstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs9608723|631|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||A|A||||chr22:g.29058041A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs9608723|4356|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29058041A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs9608723|4076|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||A|A||1||chr22:g.29058041A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||||||||||rs9608723|553|1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29058041A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs9608723|4055|1||||||||||||Ensembl||A|A||||chr22:g.29058041A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||||||||||rs9608723|553|1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29058041A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs9608723|631|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29058041A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs9608723|631|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||A|A||||chr22:g.29058041A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs9608723|553|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29058041A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs9608723|631|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||A|A||||chr22:g.29058041A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs9608723|631|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||A|A||||chr22:g.29058041A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216071,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000728998,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000295282,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,ZNRF3,ZNRF3,.,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91209;gnomADv4_1_AC_joint_XX=46860;gnomADv4_1_AC_joint_XY=44349;gnomADv4_1_AF_grpmax_joint=0.790448;gnomADv4_1_AF_joint=0.616744;gnomADv4_1_AF_joint_XX=0.617456;gnomADv4_1_AF_joint_XY=0.615993;gnomADv4_1_AN_grpmax_joint=39928;gnomADv4_1_AN_joint=147888;gnomADv4_1_AN_joint_XX=75892;gnomADv4_1_AN_joint_XY=71996;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=29099;gnomADv4_1_nhomalt_joint_XX=15011;gnomADv4_1_nhomalt_joint_XY=14088;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29058489 chr22_29058489_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.124;CADD_Rawscore=-0.554175;CSQ=C|downstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs6005975|183|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||T|T||||chr22:g.29058489T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000402174|protein_coding||||||||||rs6005975|4804|1||HGNC|HGNC:18126|2|CCDS42999.1|ENSP00000384456|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29058489T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000406323|protein_coding||||||||||rs6005975|4524|1||HGNC|HGNC:18126|1|CCDS42999.1|ENSP00000384553|Q9ULT6.166||UPI00001C205E|Q9ULT6-2||Ensembl||T|T||1||chr22:g.29058489T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||||||||||rs6005975|1001|1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29058489T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs6005975|3607|1||||||||||||Ensembl||T|T||||chr22:g.29058489T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||||||||||rs6005975|1001|1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29058489T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs6005975|183|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29058489T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs6005975|183|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||T|T||||chr22:g.29058489T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs6005975|1001|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29058489T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs6005975|183|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||T|T||||chr22:g.29058489T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs6005975|183|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||T|T||||chr22:g.29058489T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216071,ENST00000402174,ENST00000406323,ENST00000544604,ENST00000728998,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000183579,ENSG00000183579,ENSG00000295282,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,ZNRF3,ZNRF3,.,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88356;gnomADv4_1_AC_joint_XX=45110;gnomADv4_1_AC_joint_XY=43246;gnomADv4_1_AF_grpmax_joint=0.714761;gnomADv4_1_AF_joint=0.581504;gnomADv4_1_AF_joint_XX=0.580746;gnomADv4_1_AF_joint_XY=0.582297;gnomADv4_1_AN_grpmax_joint=41460;gnomADv4_1_AN_joint=151944;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26394;gnomADv4_1_nhomalt_joint_XX=13475;gnomADv4_1_nhomalt_joint_XY=12919;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29059699 chr22_29059699_C_CCTT C CCTT 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=6.015;CADDIndel_Rawscore=0.554655;CSQ=CTT|intron_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||2/2|ENST00000216071.5:c.433-520_433-518dup|||||||rs3037524||-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl|||||||chr22:g.29059701_29059703dup|||||||||||||,CTT|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||||||||||rs3037524|2211|1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1||chr22:g.29059701_29059703dup|||||||||||||,CTT|upstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs3037524|2396|1||||||||||||Ensembl|||||||chr22:g.29059701_29059703dup|||||||||||||,CTT|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||||||||||rs3037524|2211|1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq|||||||chr22:g.29059701_29059703dup|||||||||||||,CTT|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||2/2|NM_001386866.1:c.310-520_310-518dup|||||||rs3037524||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq|||||||chr22:g.29059701_29059703dup|||||||||||||,CTT|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||2/2|NM_015370.2:c.433-520_433-518dup|||||||rs3037524||-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq|||||||chr22:g.29059701_29059703dup|||||||||||||,CTT|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs3037524|2211|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq|||||||chr22:g.29059701_29059703dup|||||||||||||,CTT|inframe_insertion|MODERATE|C22orf31|25770|Transcript|XM_005261491.3|protein_coding|1/2||XM_005261491.3:c.101_103dup|XP_005261548.1:p.Glu34dup|337-338|103-104|35|G/EG|ggc/gAAGgc|rs3037524||-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq|||||||chr22:g.29059701_29059703dup|||||||||||||,CTT|intron_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||2/2|XM_017028741.2:c.310-520_310-518dup|||||||rs3037524||-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq|||||||chr22:g.29059701_29059703dup|||||||||||||;TYPE=INDEL;VEP_Allele=CTT,CTT,CTT,CTT,CTT,CTT,CTT,CTT,CTT;VEP_Feature=ENST00000216071,ENST00000544604,ENST00000728998,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000295282,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,.,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=415324;gnomADv4_1_AC_joint_XX=221924;gnomADv4_1_AC_joint_XY=193400;gnomADv4_1_AF_grpmax_joint=0.489551;gnomADv4_1_AF_joint=0.421875;gnomADv4_1_AF_joint_XX=0.422077;gnomADv4_1_AF_joint_XY=0.421643;gnomADv4_1_AN_grpmax_joint=1914;gnomADv4_1_AN_joint=984472;gnomADv4_1_AN_joint_XX=525790;gnomADv4_1_AN_joint_XY=458682;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=89743;gnomADv4_1_nhomalt_joint_XX=47802;gnomADv4_1_nhomalt_joint_XY=41941;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29059760 chr22_29059760_T_TTG T TTG 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=1.933;CADDIndel_Rawscore=0.154912;CSQ=TG|intron_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||2/2|ENST00000216071.5:c.433-580_433-579dup|||||||rs111812934||-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl|||||||chr22:g.29059781_29059782dup|||||||||||||,TG|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||||||||||rs111812934|2272|1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl|||||1||chr22:g.29059781_29059782dup|||||||||||||,TG|upstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs111812934|2335|1||||||||||||Ensembl|||||||chr22:g.29059781_29059782dup|||||||||||||,TG|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||||||||||rs111812934|2272|1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq|||||||chr22:g.29059781_29059782dup|||||||||||||,TG|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||2/2|NM_001386866.1:c.310-580_310-579dup|||||||rs111812934||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq|||||||chr22:g.29059781_29059782dup|||||||||||||,TG|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||2/2|NM_015370.2:c.433-580_433-579dup|||||||rs111812934||-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq|||||||chr22:g.29059781_29059782dup|||||||||||||,TG|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs111812934|2272|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq|||||||chr22:g.29059781_29059782dup|||||||||||||,TG|frameshift_variant|HIGH|C22orf31|25770|Transcript|XM_005261491.3|protein_coding|1/2||XM_005261491.3:c.41_42dup|XP_005261548.1:p.Thr15GlnfsTer11|276-277|42-43|14-15|-/X|-/CA|rs111812934||-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq|||||||chr22:g.29059781_29059782dup|||||||||||||,TG|intron_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||2/2|XM_017028741.2:c.310-580_310-579dup|||||||rs111812934||-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq|||||||chr22:g.29059781_29059782dup|||||||||||||;TYPE=INDEL;VEP_Allele=TG,TG,TG,TG,TG,TG,TG,TG,TG;VEP_Feature=ENST00000216071,ENST00000544604,ENST00000728998,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000295282,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,.,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19920;gnomADv4_1_AC_joint_XX=10596;gnomADv4_1_AC_joint_XY=9324;gnomADv4_1_AF_grpmax_joint=0.0319957;gnomADv4_1_AF_joint=0.021161;gnomADv4_1_AF_joint_XX=0.021078;gnomADv4_1_AF_joint_XY=0.0212561;gnomADv4_1_AN_grpmax_joint=1844;gnomADv4_1_AN_joint=941354;gnomADv4_1_AN_joint_XX=502704;gnomADv4_1_AN_joint_XY=438650;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=66;gnomADv4_1_nhomalt_joint_XX=34;gnomADv4_1_nhomalt_joint_XY=32;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29060021 chr22_29060021_CT_C CT C 41 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=41;CADDIndel_PHREDscore=0.147;CADDIndel_Rawscore=-0.507446;CSQ=-|intron_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||2/2|ENST00000216071.5:c.432+393del|||||||rs60208241||-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||T|T||||chr22:g.29060043del|||||||||||||,-|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||||||||||rs60208241|2534|1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29060043del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs60208241|2074|1||||||||||||Ensembl||T|T||||chr22:g.29060043del|||||||||||||,-|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||||||||||rs60208241|2534|1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29060043del|||||||||||||,-|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||2/2|NM_001386866.1:c.309+393del|||||||rs60208241||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29060043del|||||||||||||,-|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||2/2|NM_015370.2:c.432+393del|||||||rs60208241||-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||T|T||||chr22:g.29060043del|||||||||||||,-|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs60208241|2534|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29060043del|||||||||||||,-|5_prime_UTR_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding|1/2||XM_005261491.3:c.-220del||15|||||rs60208241||-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||T|T||||chr22:g.29060043del|||||||||0|0|7||,-|intron_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||2/2|XM_017028741.2:c.309+393del|||||||rs60208241||-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||T|T||||chr22:g.29060043del|||||||||||||;SpliceAI=C|C22orf31|0.00|0.00|0.00|0.00|44|-1|44|25;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216071,ENST00000544604,ENST00000728998,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000295282,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,.,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,0,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,0,.;VEP_existing_uORFs=.,.,.,.,.,.,.,7,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=180361;gnomADv4_1_AC_joint_XX=95849;gnomADv4_1_AC_joint_XY=84512;gnomADv4_1_AF_grpmax_joint=0.360803;gnomADv4_1_AF_joint=0.335848;gnomADv4_1_AF_joint_XX=0.336121;gnomADv4_1_AF_joint_XY=0.335538;gnomADv4_1_AN_grpmax_joint=5582;gnomADv4_1_AN_joint=537032;gnomADv4_1_AN_joint_XX=285162;gnomADv4_1_AN_joint_XY=251870;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2644;gnomADv4_1_nhomalt_joint_XX=1354;gnomADv4_1_nhomalt_joint_XY=1290;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29060745 chr22_29060745_T_C T C 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.515;CADD_Rawscore=0.090766;CSQ=C|synonymous_variant|LOW|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding|2/3||ENST00000216071.5%3Ac.102A>G|ENSP00000216071.4%3Ap.Ser34%3D|141|102|34|S|tcA/tcG|rs6005977||-1||HGNC|HGNC%3A26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||T|T||||chr22%3Ag.29060745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||||||||||rs6005977|3257|1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||T|T||1||chr22:g.29060745T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs6005977|1351|1||||||||||||Ensembl||T|T||||chr22:g.29060745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||||||||||rs6005977|3257|1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||T|T||||chr22:g.29060745T>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding|2/3||NM_001386866.1:c.-22A>G||166|||||rs6005977||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29060745T>C|||||||||0|1|3||,C|synonymous_variant|LOW|C22orf31|25770|Transcript|NM_015370.2|protein_coding|2/3||NM_015370.2%3Ac.102A>G|NP_056185.1%3Ap.Ser34%3D|141|102|34|S|tcA/tcG|rs6005977||-1||EntrezGene|HGNC%3A26931|||NP_056185.1||||||RefSeq||T|T||||chr22%3Ag.29060745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs6005977|3257|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||T|T||||chr22:g.29060745T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs6005977|709|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||T|T||||chr22:g.29060745T>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding|2/3||XM_017028741.2:c.-22A>G||206|||||rs6005977||-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||T|T||||chr22:g.29060745T>C|||||||||0|1|4||;SpliceAI=C|C22orf31|0.00|0.00|0.00|0.00|24|-30|-34|-24;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216071,ENST00000544604,ENST00000728998,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000295282,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,.,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,0,.,.,.,0;VEP_existing_OutOfFrame_oORFs=.,.,.,.,1,.,.,.,1;VEP_existing_uORFs=.,.,.,.,3,.,.,.,4;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1011309;gnomADv4_1_AC_joint_XX=509957;gnomADv4_1_AC_joint_XY=501352;gnomADv4_1_AF_grpmax_joint=0.679208;gnomADv4_1_AF_joint=0.626721;gnomADv4_1_AF_joint_XX=0.62782;gnomADv4_1_AF_joint_XY=0.625608;gnomADv4_1_AN_grpmax_joint=6060;gnomADv4_1_AN_joint=1613650;gnomADv4_1_AN_joint_XX=812266;gnomADv4_1_AN_joint_XY=801384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=323354;gnomADv4_1_nhomalt_joint_XX=163454;gnomADv4_1_nhomalt_joint_XY=159900;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29061157 chr22_29061157_C_A C A 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.312;CADD_Rawscore=-0.311649;CSQ=A|intron_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||1/2|ENST00000216071.5:c.4-314G>T|||||||rs134556||-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||C|C||||chr22:g.29061157C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||||||||||rs134556|3669|1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||C|C||1||chr22:g.29061157C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs134556|939|1||||||||||||Ensembl||C|C||||chr22:g.29061157C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||||||||||rs134556|3669|1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||C|C||||chr22:g.29061157C>A|||||||||||||,A|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-120-314G>T|||||||rs134556||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||C|C||||chr22:g.29061157C>A|||||||||||||,A|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||1/2|NM_015370.2:c.4-314G>T|||||||rs134556||-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||C|C||||chr22:g.29061157C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs134556|3669|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||C|C||||chr22:g.29061157C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs134556|1121|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||C|C||||chr22:g.29061157C>A|||||||||||||,A|intron_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||1/2|XM_017028741.2:c.-120-314G>T|||||||rs134556||-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||C|C||||chr22:g.29061157C>A|||||||||||||;SpliceAI=A|C22orf31|0.03|0.00|0.00|0.00|-16|48|-3|-18;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216071,ENST00000544604,ENST00000728998,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000295282,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,.,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15933;gnomADv4_1_AC_joint_XX=8010;gnomADv4_1_AC_joint_XY=7923;gnomADv4_1_AF_grpmax_joint=0.141991;gnomADv4_1_AF_joint=0.104729;gnomADv4_1_AF_joint_XX=0.102983;gnomADv4_1_AF_joint_XY=0.106555;gnomADv4_1_AN_grpmax_joint=67990;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1168;gnomADv4_1_nhomalt_joint_XX=599;gnomADv4_1_nhomalt_joint_XY=569;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29061594 chr22_29061594_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.979;CADD_Rawscore=-0.023419;CSQ=G|intron_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||1/2|ENST00000216071.5:c.3+196T>C|||||||rs134557||-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||A|A||||chr22:g.29061594A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||||||||||rs134557|4106|1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29061594A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs134557|502|1||||||||||||Ensembl||A|A||||chr22:g.29061594A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||||||||||rs134557|4106|1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29061594A>G|||1||||||||||,G|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-120-751T>C|||||||rs134557||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29061594A>G|||1||||||||||,G|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||1/2|NM_015370.2:c.3+196T>C|||||||rs134557||-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||A|A||||chr22:g.29061594A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs134557|4106|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29061594A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs134557|1558|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||A|A||||chr22:g.29061594A>G|||1||||||||||,G|intron_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||1/2|XM_017028741.2:c.-121+318T>C|||||||rs134557||-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||A|A||||chr22:g.29061594A>G|||1||||||||||;SpliceAI=G|C22orf31|0.02|0.00|0.00|0.00|36|-10|-12|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216071,ENST00000544604,ENST00000728998,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000295282,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,.,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=126706;gnomADv4_1_AC_joint_XX=65133;gnomADv4_1_AC_joint_XY=61573;gnomADv4_1_AF_grpmax_joint=0.955512;gnomADv4_1_AF_joint=0.833011;gnomADv4_1_AF_joint_XX=0.837573;gnomADv4_1_AF_joint_XY=0.82824;gnomADv4_1_AN_grpmax_joint=41494;gnomADv4_1_AN_joint=152106;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=53332;gnomADv4_1_nhomalt_joint_XX=27538;gnomADv4_1_nhomalt_joint_XY=25794;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29061634 chr22_29061634_G_A G A 60 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=2.025;CADD_Rawscore=0.167175;CSQ=A|intron_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||1/2|ENST00000216071.5:c.3+156C>T|||||||rs134558||-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||G|G||||chr22:g.29061634G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||||||||||rs134558|4146|1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||G|G||1||chr22:g.29061634G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs134558|462|1||||||||||||Ensembl||G|G||||chr22:g.29061634G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||||||||||rs134558|4146|1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||G|G||||chr22:g.29061634G>A|||||||||||||,A|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-120-791C>T|||||||rs134558||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||G|G||||chr22:g.29061634G>A|||||||||||||,A|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||1/2|NM_015370.2:c.3+156C>T|||||||rs134558||-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||G|G||||chr22:g.29061634G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs134558|4146|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||G|G||||chr22:g.29061634G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs134558|1598|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||G|G||||chr22:g.29061634G>A|||||||||||||,A|intron_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||1/2|XM_017028741.2:c.-121+278C>T|||||||rs134558||-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||G|G||||chr22:g.29061634G>A|||||||||||||;SpliceAI=A|C22orf31|0.00|0.00|0.00|0.00|-50|-4|5|-6;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216071,ENST00000544604,ENST00000728998,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000295282,84133,25770,25770,84133,25770,25770;VEP_SYMBOL=C22orf31,ZNRF3,.,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58914;gnomADv4_1_AC_joint_XX=30565;gnomADv4_1_AC_joint_XY=28349;gnomADv4_1_AF_grpmax_joint=0.478583;gnomADv4_1_AF_joint=0.387801;gnomADv4_1_AF_joint_XX=0.393615;gnomADv4_1_AF_joint_XY=0.381722;gnomADv4_1_AN_grpmax_joint=67936;gnomADv4_1_AN_joint=151918;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=12306;gnomADv4_1_nhomalt_joint_XX=6538;gnomADv4_1_nhomalt_joint_XY=5768;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29062453 chr22_29062453_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=18.27;CADD_Rawscore=2.33289;CSQ=G|upstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs134559|622|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||A|A||||chr22:g.29062453A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|ENSG00000183579|Transcript|ENST00000544604|protein_coding||||||||||rs134559|4965|1||HGNC|HGNC:18126|1|CCDS56225.1|ENSP00000443824|Q9ULT6.166||UPI0000EE5944|Q9ULT6-1||Ensembl||A|A||1||chr22:g.29062453A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.90+268A>G|||||||rs134559||1||||||||||||Ensembl||A|A||||chr22:g.29062453A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_001206998.2|protein_coding||||||||||rs134559|4965|1||EntrezGene|HGNC:18126|||NP_001193927.1||||||RefSeq||A|A||||chr22:g.29062453A>G|||||||||||||,G|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-120-1610T>C|||||||rs134559||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29062453A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs134559|622|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||A|A||||chr22:g.29062453A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZNRF3|84133|Transcript|NM_032173.4|protein_coding||||||||||rs134559|4965|1||EntrezGene|HGNC:18126|||NP_115549.2||||||RefSeq||A|A||||chr22:g.29062453A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs134559|2417|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||A|A||||chr22:g.29062453A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs134559|435|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||A|A||||chr22:g.29062453A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FJGB|enhancer||||||||||rs134559|||||||||||||||||||||chr22:g.29062453A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216071,ENST00000544604,ENST00000728998,NM_001206998.2,NM_001386866.1,NM_015370.2,NM_032173.4,XM_005261491.3,XM_017028741.2,ENSR22_9FJGB;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100249,ENSG00000183579,ENSG00000295282,84133,25770,25770,84133,25770,25770,.;VEP_SYMBOL=C22orf31,ZNRF3,.,ZNRF3,C22orf31,C22orf31,ZNRF3,C22orf31,C22orf31,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=113883;gnomADv4_1_AC_joint_XX=58766;gnomADv4_1_AC_joint_XY=55117;gnomADv4_1_AF_grpmax_joint=0.838839;gnomADv4_1_AF_joint=0.748994;gnomADv4_1_AF_joint_XX=0.756125;gnomADv4_1_AF_joint_XY=0.741538;gnomADv4_1_AN_grpmax_joint=41474;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=43119;gnomADv4_1_nhomalt_joint_XX=22415;gnomADv4_1_nhomalt_joint_XY=20704;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29062857 chr22_29062857_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=8.184;CADD_Rawscore=0.788972;CSQ=G|upstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs134560|1026|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||A|A||||chr22:g.29062857A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.90+672A>G|||||||rs134560||1||||||||||||Ensembl||A|A||||chr22:g.29062857A>G|||||||||||||,G|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-120-2014T>C|||||||rs134560||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29062857A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs134560|1026|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||A|A||||chr22:g.29062857A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs134560|2821|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||A|A||||chr22:g.29062857A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs134560|839|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||A|A||||chr22:g.29062857A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000216071,ENST00000728998,NM_001386866.1,NM_015370.2,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000295282,25770,25770,25770,25770;VEP_SYMBOL=C22orf31,.,C22orf31,C22orf31,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=123834;gnomADv4_1_AC_joint_XX=63658;gnomADv4_1_AC_joint_XY=60176;gnomADv4_1_AF_grpmax_joint=0.918773;gnomADv4_1_AF_joint=0.815083;gnomADv4_1_AF_joint_XX=0.819153;gnomADv4_1_AF_joint_XY=0.810822;gnomADv4_1_AN_grpmax_joint=41464;gnomADv4_1_AN_joint=151928;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74216;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=51042;gnomADv4_1_nhomalt_joint_XX=26329;gnomADv4_1_nhomalt_joint_XY=24713;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29063646 chr22_29063646_T_A T A 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=15.27;CADD_Rawscore=1.69524;CSQ=A|upstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs760627|1815|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||T|T||||chr22:g.29063646T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.90+1461T>A|||||||rs760627||1||||||||||||Ensembl||T|T||||chr22:g.29063646T>A|||||||||||||,A|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-120-2803A>T|||||||rs760627||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29063646T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs760627|1815|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||T|T||||chr22:g.29063646T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs760627|3610|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||T|T||||chr22:g.29063646T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs760627|1628|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||T|T||||chr22:g.29063646T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000216071,ENST00000728998,NM_001386866.1,NM_015370.2,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000295282,25770,25770,25770,25770;VEP_SYMBOL=C22orf31,.,C22orf31,C22orf31,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=49724;gnomADv4_1_AC_joint_XX=24987;gnomADv4_1_AC_joint_XY=24737;gnomADv4_1_AF_grpmax_joint=0.638171;gnomADv4_1_AF_joint=0.326921;gnomADv4_1_AF_joint_XX=0.321426;gnomADv4_1_AF_joint_XY=0.332665;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10171;gnomADv4_1_nhomalt_joint_XX=5100;gnomADv4_1_nhomalt_joint_XY=5071;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29063744 chr22_29063744_A_G A G 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.233;CADD_Rawscore=0.193247;CSQ=G|upstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs760628|1913|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||A|A||||chr22:g.29063744A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.90+1559A>G|||||||rs760628||1||||||||||||Ensembl||A|A||||chr22:g.29063744A>G|||||||||||||,G|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-120-2901T>C|||||||rs760628||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29063744A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs760628|1913|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||A|A||||chr22:g.29063744A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs760628|3708|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||A|A||||chr22:g.29063744A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs760628|1726|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||A|A||||chr22:g.29063744A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000216071,ENST00000728998,NM_001386866.1,NM_015370.2,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000295282,25770,25770,25770,25770;VEP_SYMBOL=C22orf31,.,C22orf31,C22orf31,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=66002;gnomADv4_1_AC_joint_XX=33194;gnomADv4_1_AC_joint_XY=32808;gnomADv4_1_AF_grpmax_joint=0.769023;gnomADv4_1_AF_joint=0.433818;gnomADv4_1_AF_joint_XX=0.426856;gnomADv4_1_AF_joint_XY=0.441098;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17935;gnomADv4_1_nhomalt_joint_XX=9012;gnomADv4_1_nhomalt_joint_XY=8923;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29063951 chr22_29063951_C_T C T 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.348;CADD_Rawscore=-0.284569;CSQ=T|upstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs2347791|2120|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||C|C||||chr22:g.29063951C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.90+1766C>T|||||||rs2347791||1||||||||||||Ensembl||C|C||||chr22:g.29063951C>T|||||||||||||,T|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-120-3108G>A|||||||rs2347791||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||C|C||||chr22:g.29063951C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs2347791|2120|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||C|C||||chr22:g.29063951C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs2347791|3915|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||C|C||||chr22:g.29063951C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs2347791|1933|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||C|C||||chr22:g.29063951C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216071,ENST00000728998,NM_001386866.1,NM_015370.2,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000295282,25770,25770,25770,25770;VEP_SYMBOL=C22orf31,.,C22orf31,C22orf31,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=58466;gnomADv4_1_AC_joint_XX=29378;gnomADv4_1_AC_joint_XY=29088;gnomADv4_1_AF_grpmax_joint=0.637984;gnomADv4_1_AF_joint=0.384944;gnomADv4_1_AF_joint_XX=0.378378;gnomADv4_1_AF_joint_XY=0.39181;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151882;gnomADv4_1_AN_joint_XX=77642;gnomADv4_1_AN_joint_XY=74240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13631;gnomADv4_1_nhomalt_joint_XX=6844;gnomADv4_1_nhomalt_joint_XY=6787;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29064015 chr22_29064015_G_A G A 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.392;CADD_Rawscore=0.068478;CSQ=A|upstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs2347792|2184|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||G|G||||chr22:g.29064015G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.90+1830G>A|||||||rs2347792||1||||||||||||Ensembl||G|G||||chr22:g.29064015G>A|||||||||||||,A|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-120-3172C>T|||||||rs2347792||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||G|G||||chr22:g.29064015G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs2347792|2184|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||G|G||||chr22:g.29064015G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_005261491.3|protein_coding||||||||||rs2347792|3979|-1||EntrezGene|HGNC:26931|||XP_005261548.1||||||RefSeq||G|G||||chr22:g.29064015G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs2347792|1997|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||G|G||||chr22:g.29064015G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000216071,ENST00000728998,NM_001386866.1,NM_015370.2,XM_005261491.3,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000295282,25770,25770,25770,25770;VEP_SYMBOL=C22orf31,.,C22orf31,C22orf31,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=52233;gnomADv4_1_AC_joint_XX=26071;gnomADv4_1_AC_joint_XY=26162;gnomADv4_1_AF_grpmax_joint=0.635783;gnomADv4_1_AF_joint=0.343588;gnomADv4_1_AF_joint_XX=0.335379;gnomADv4_1_AF_joint_XY=0.352179;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10188;gnomADv4_1_nhomalt_joint_XX=5017;gnomADv4_1_nhomalt_joint_XY=5171;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29065162 chr22_29065162_T_A T A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.221;CADD_Rawscore=-0.400339;CSQ=A|upstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs134561|3331|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||T|T||||chr22:g.29065162T>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.90+2977T>A|||||||rs134561||1||||||||||||Ensembl||T|T||||chr22:g.29065162T>A|||1||||||||||,A|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-120-4319A>T|||||||rs134561||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29065162T>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs134561|3331|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||T|T||||chr22:g.29065162T>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs134561|3144|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||T|T||||chr22:g.29065162T>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000216071,ENST00000728998,NM_001386866.1,NM_015370.2,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000295282,25770,25770,25770;VEP_SYMBOL=C22orf31,.,C22orf31,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=93259;gnomADv4_1_AC_joint_XX=47914;gnomADv4_1_AC_joint_XY=45345;gnomADv4_1_AF_grpmax_joint=0.748299;gnomADv4_1_AF_joint=0.613506;gnomADv4_1_AF_joint_XX=0.616352;gnomADv4_1_AF_joint_XY=0.610526;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152010;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=28843;gnomADv4_1_nhomalt_joint_XX=14880;gnomADv4_1_nhomalt_joint_XY=13963;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29065430 chr22_29065430_GA_G GA G 47 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.775;CADDIndel_Rawscore=-0.083257;CSQ=-|upstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs134562|3600|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||A|A||||chr22:g.29065439del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.90+3254del|||||||rs134562||1||||||||||||Ensembl||A|A|||8|chr22:g.29065439del|||||||||||||,-|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-120-4588del|||||||rs134562||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29065439del|||||||||||||,-|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs134562|3600|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||A|A||||chr22:g.29065439del|||||||||||||,-|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs134562|3413|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||A|A||||chr22:g.29065439del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000216071,ENST00000728998,NM_001386866.1,NM_015370.2,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000295282,25770,25770,25770;VEP_SYMBOL=C22orf31,.,C22orf31,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=101233;gnomADv4_1_AC_joint_XX=51800;gnomADv4_1_AC_joint_XY=49433;gnomADv4_1_AF_grpmax_joint=0.791096;gnomADv4_1_AF_joint=0.667905;gnomADv4_1_AF_joint_XX=0.668111;gnomADv4_1_AF_joint_XY=0.667689;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151568;gnomADv4_1_AN_joint_XX=77532;gnomADv4_1_AN_joint_XY=74036;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=34073;gnomADv4_1_nhomalt_joint_XX=17446;gnomADv4_1_nhomalt_joint_XY=16627;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29065634 chr22_29065634_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.498;CADD_Rawscore=0.223469;CSQ=A|upstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs783|3803|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||G|G||||chr22:g.29065634G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.90+3449G>A|||||||rs783||1||||||||||||Ensembl||G|G||||chr22:g.29065634G>A|||1||||||||||,A|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-120-4791C>T|||||||rs783||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||G|G||||chr22:g.29065634G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs783|3803|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||G|G||||chr22:g.29065634G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs783|3616|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||G|G||||chr22:g.29065634G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000216071,ENST00000728998,NM_001386866.1,NM_015370.2,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000295282,25770,25770,25770;VEP_SYMBOL=C22orf31,.,C22orf31,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=93229;gnomADv4_1_AC_joint_XX=47883;gnomADv4_1_AC_joint_XY=45346;gnomADv4_1_AF_grpmax_joint=0.751701;gnomADv4_1_AF_joint=0.613066;gnomADv4_1_AF_joint_XX=0.615843;gnomADv4_1_AF_joint_XY=0.610162;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=28827;gnomADv4_1_nhomalt_joint_XX=14868;gnomADv4_1_nhomalt_joint_XY=13959;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29065802 chr22_29065802_T_C T C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.503;CADD_Rawscore=0.08859;CSQ=C|upstream_gene_variant|MODIFIER|C22orf31|ENSG00000100249|Transcript|ENST00000216071|protein_coding||||||||||rs134564|3971|-1||HGNC|HGNC:26931|1|CCDS13848.1|ENSP00000216071|O95567.137||UPI0000073FE0|||Ensembl||T|T||||chr22:g.29065802T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.91-3610T>C|||||||rs134564||1||||||||||||Ensembl||T|T||||chr22:g.29065802T>C|||||||||||||,C|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-120-4959A>G|||||||rs134564||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29065802T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_015370.2|protein_coding||||||||||rs134564|3971|-1||EntrezGene|HGNC:26931|||NP_056185.1||||||RefSeq||T|T||||chr22:g.29065802T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|XM_017028741.2|protein_coding||||||||||rs134564|3784|-1||EntrezGene|HGNC:26931|||XP_016884230.1||||||RefSeq||T|T||||chr22:g.29065802T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000216071,ENST00000728998,NM_001386866.1,NM_015370.2,XM_017028741.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100249,ENSG00000295282,25770,25770,25770;VEP_SYMBOL=C22orf31,.,C22orf31,C22orf31,C22orf31;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=111497;gnomADv4_1_AC_joint_XX=57073;gnomADv4_1_AC_joint_XY=54424;gnomADv4_1_AF_grpmax_joint=0.85034;gnomADv4_1_AF_joint=0.732877;gnomADv4_1_AF_joint_XX=0.733737;gnomADv4_1_AF_joint_XY=0.731978;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=41215;gnomADv4_1_nhomalt_joint_XX=21089;gnomADv4_1_nhomalt_joint_XY=20126;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29067101 chr22_29067101_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.389;CADD_Rawscore=0.310687;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.91-2311C>T|||||||rs134566||1||||||||||||Ensembl||C|C||||chr22:g.29067101C>T|||||||||||||,T|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-120-6258G>A|||||||rs134566||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||C|C||||chr22:g.29067101C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000728998,NM_001386866.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000295282,25770;VEP_SYMBOL=.,C22orf31;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=71225;gnomADv4_1_AC_joint_XX=37308;gnomADv4_1_AC_joint_XY=33917;gnomADv4_1_AF_grpmax_joint=0.602041;gnomADv4_1_AF_joint=0.468487;gnomADv4_1_AF_joint_XX=0.479932;gnomADv4_1_AF_joint_XY=0.456512;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=17456;gnomADv4_1_nhomalt_joint_XX=9357;gnomADv4_1_nhomalt_joint_XY=8099;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29067233 chr22_29067233_A_G A G 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.065;CADD_Rawscore=-0.001586;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.91-2179A>G|||||||rs134567||1||||||||||||Ensembl||A|A||||chr22:g.29067233A>G|||1||||||||||,G|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-120-6390T>C|||||||rs134567||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29067233A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000728998,NM_001386866.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000295282,25770;VEP_SYMBOL=.,C22orf31;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=100036;gnomADv4_1_AC_joint_XX=51472;gnomADv4_1_AC_joint_XY=48564;gnomADv4_1_AF_grpmax_joint=0.775862;gnomADv4_1_AF_joint=0.662227;gnomADv4_1_AF_joint_XX=0.666356;gnomADv4_1_AF_joint_XY=0.657906;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=151060;gnomADv4_1_AN_joint_XX=77244;gnomADv4_1_AN_joint_XY=73816;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=33406;gnomADv4_1_nhomalt_joint_XX=17252;gnomADv4_1_nhomalt_joint_XY=16154;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29067392 chr22_29067392_C_T C T 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=7.951;CADD_Rawscore=0.76331;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.91-2020C>T|||||||rs134568||1||||||||||||Ensembl||C|C||||chr22:g.29067392C>T|||||||||||||,T|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+6485G>A|||||||rs134568||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||C|C||||chr22:g.29067392C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000728998,NM_001386866.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000295282,25770;VEP_SYMBOL=.,C22orf31;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=75363;gnomADv4_1_AC_joint_XX=39500;gnomADv4_1_AC_joint_XY=35863;gnomADv4_1_AF_grpmax_joint=0.611111;gnomADv4_1_AF_joint=0.499463;gnomADv4_1_AF_joint_XX=0.511883;gnomADv4_1_AF_joint_XY=0.486463;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=150888;gnomADv4_1_AN_joint_XX=77166;gnomADv4_1_AN_joint_XY=73722;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19623;gnomADv4_1_nhomalt_joint_XX=10513;gnomADv4_1_nhomalt_joint_XY=9110;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29067393 chr22_29067393_C_T C T 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=9.945;CADD_Rawscore=0.9669;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.91-2019C>T|||||||rs134569||1||||||||||||Ensembl||C|C||||chr22:g.29067393C>T|||1||||||||||,T|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+6484G>A|||||||rs134569||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||C|C||||chr22:g.29067393C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000728998,NM_001386866.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000295282,25770;VEP_SYMBOL=.,C22orf31;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=99571;gnomADv4_1_AC_joint_XX=51275;gnomADv4_1_AC_joint_XY=48296;gnomADv4_1_AF_grpmax_joint=0.775862;gnomADv4_1_AF_joint=0.660014;gnomADv4_1_AF_joint_XX=0.664614;gnomADv4_1_AF_joint_XY=0.655199;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=150862;gnomADv4_1_AN_joint_XX=77150;gnomADv4_1_AN_joint_XY=73712;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=33142;gnomADv4_1_nhomalt_joint_XX=17141;gnomADv4_1_nhomalt_joint_XY=16001;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29067557 chr22_29067557_C_T C T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.728;CADD_Rawscore=-0.098889;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.91-1855C>T|||||||rs134570||1||||||||||||Ensembl||C|C||||chr22:g.29067557C>T|||||||||||||,T|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+6320G>A|||||||rs134570||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||C|C||||chr22:g.29067557C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000728998,NM_001386866.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000295282,25770;VEP_SYMBOL=.,C22orf31;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=75103;gnomADv4_1_AC_joint_XX=39336;gnomADv4_1_AC_joint_XY=35767;gnomADv4_1_AF_grpmax_joint=0.605442;gnomADv4_1_AF_joint=0.494515;gnomADv4_1_AF_joint_XX=0.506516;gnomADv4_1_AF_joint_XY=0.481957;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151872;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=74212;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19420;gnomADv4_1_nhomalt_joint_XX=10373;gnomADv4_1_nhomalt_joint_XY=9047;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29068057 chr22_29068057_CAACATATCA_C CAACATATCA C 41 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.925;CADDIndel_Rawscore=-0.03797;CSQ=-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs71196620|4969|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||AACATATCA|AACATATCA||1||chr22:g.29068070_29068078del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.91-1342_91-1334del|||||||rs71196620||1||||||||||||Ensembl||AACATATCA|AACATATCA|||12|chr22:g.29068070_29068078del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs71196620|4969|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||AACATATCA|AACATATCA||||chr22:g.29068070_29068078del|||||||||||||,-|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+5811_-121+5819del|||||||rs71196620||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||AACATATCA|AACATATCA||||chr22:g.29068070_29068078del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs71196620|4969|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||AACATATCA|AACATATCA||||chr22:g.29068070_29068078del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs71196620|4969|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||AACATATCA|AACATATCA||||chr22:g.29068070_29068078del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs71196620|4969|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||AACATATCA|AACATATCA||||chr22:g.29068070_29068078del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs71196620|4969|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||AACATATCA|AACATATCA||||chr22:g.29068070_29068078del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000400335,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=94817;gnomADv4_1_AC_joint_XX=49466;gnomADv4_1_AC_joint_XY=45351;gnomADv4_1_AF_grpmax_joint=0.765957;gnomADv4_1_AF_joint=0.65419;gnomADv4_1_AF_joint_XX=0.660092;gnomADv4_1_AF_joint_XY=0.647871;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=144938;gnomADv4_1_AN_joint_XX=74938;gnomADv4_1_AN_joint_XY=70000;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31323;gnomADv4_1_nhomalt_joint_XX=16431;gnomADv4_1_nhomalt_joint_XY=14892;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29068084 chr22_29068084_C_CTT C CTT 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=38;CADDIndel_PHREDscore=3.544;CADDIndel_Rawscore=0.324636;CSQ=TT|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs35135887|4950|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1||chr22:g.29068100_29068101dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.91-1312_91-1311dup|||||||rs35135887||1||||||||||||Ensembl||||||17|chr22:g.29068100_29068101dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs35135887|4950|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq|||||||chr22:g.29068100_29068101dup|||||||||||||,TT|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+5791_-121+5792dup|||||||rs35135887||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq|||||||chr22:g.29068100_29068101dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs35135887|4950|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq|||||||chr22:g.29068100_29068101dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs35135887|4950|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq|||||||chr22:g.29068100_29068101dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs35135887|4950|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq|||||||chr22:g.29068100_29068101dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs35135887|4950|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq|||||||chr22:g.29068100_29068101dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000400335,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=63111;gnomADv4_1_AC_joint_XX=34225;gnomADv4_1_AC_joint_XY=28886;gnomADv4_1_AF_grpmax_joint=0.614754;gnomADv4_1_AF_joint=0.485327;gnomADv4_1_AF_joint_XX=0.498093;gnomADv4_1_AF_joint_XY=0.471024;gnomADv4_1_AN_grpmax_joint=244;gnomADv4_1_AN_joint=130038;gnomADv4_1_AN_joint_XX=68712;gnomADv4_1_AN_joint_XY=61326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=16481;gnomADv4_1_nhomalt_joint_XX=9078;gnomADv4_1_nhomalt_joint_XY=7403;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29068235 chr22_29068235_T_C T C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.272;CADD_Rawscore=0.197921;CSQ=C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134577|4883|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29068235T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134577|4800|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29068235T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134577|4896|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29068235T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.91-1177T>C|||||||rs134577||1||||||||||||Ensembl||T|T||||chr22:g.29068235T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134577|4800|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29068235T>C|||||||||||||,C|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+5642A>G|||||||rs134577||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29068235T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134577|4800|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29068235T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134577|4800|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29068235T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134577|4800|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29068235T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134577|4800|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29068235T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=113730;gnomADv4_1_AC_joint_XX=58310;gnomADv4_1_AC_joint_XY=55420;gnomADv4_1_AF_grpmax_joint=0.86588;gnomADv4_1_AF_joint=0.750544;gnomADv4_1_AF_joint_XX=0.752077;gnomADv4_1_AF_joint_XY=0.748939;gnomADv4_1_AN_grpmax_joint=41284;gnomADv4_1_AN_joint=151530;gnomADv4_1_AN_joint_XX=77532;gnomADv4_1_AN_joint_XY=73998;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=43273;gnomADv4_1_nhomalt_joint_XX=22199;gnomADv4_1_nhomalt_joint_XY=21074;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29068412 chr22_29068412_CT_C CT C 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=43;CADDIndel_PHREDscore=0.662;CADDIndel_Rawscore=-0.12282;CSQ=-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134578|4705|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29068428del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134578|4622|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29068428del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134578|4718|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29068428del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.91-984del|||||||rs134578||1||||||||||||Ensembl||T|T|||15|chr22:g.29068428del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134578|4622|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29068428del|||||||||||||,-|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+5464del|||||||rs134578||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29068428del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134578|4622|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29068428del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134578|4622|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29068428del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134578|4622|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29068428del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134578|4622|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29068428del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78316;gnomADv4_1_AC_joint_XX=41428;gnomADv4_1_AC_joint_XY=36888;gnomADv4_1_AF_grpmax_joint=0.756198;gnomADv4_1_AF_joint=0.615353;gnomADv4_1_AF_joint_XX=0.622397;gnomADv4_1_AF_joint_XY=0.60763;gnomADv4_1_AN_grpmax_joint=242;gnomADv4_1_AN_joint=127270;gnomADv4_1_AN_joint_XX=66562;gnomADv4_1_AN_joint_XY=60708;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=23740;gnomADv4_1_nhomalt_joint_XX=12635;gnomADv4_1_nhomalt_joint_XY=11105;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29068527 chr22_29068527_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.092;CADD_Rawscore=0.004961;CSQ=C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134579|4591|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29068527T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134579|4508|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29068527T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134579|4604|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29068527T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.91-885T>C|||||||rs134579||1||||||||||||Ensembl||T|T||||chr22:g.29068527T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134579|4508|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29068527T>C|||1||||||||||,C|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+5350A>G|||||||rs134579||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29068527T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134579|4508|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29068527T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134579|4508|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29068527T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134579|4508|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29068527T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134579|4508|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29068527T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=99726;gnomADv4_1_AC_joint_XX=51411;gnomADv4_1_AC_joint_XY=48315;gnomADv4_1_AF_grpmax_joint=0.77551;gnomADv4_1_AF_joint=0.661989;gnomADv4_1_AF_joint_XX=0.666308;gnomADv4_1_AF_joint_XY=0.657454;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=150646;gnomADv4_1_AN_joint_XX=77158;gnomADv4_1_AN_joint_XY=73488;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=33264;gnomADv4_1_nhomalt_joint_XX=17214;gnomADv4_1_nhomalt_joint_XY=16050;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29068571 chr22_29068571_C_T C T 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.095;CADD_Rawscore=0.005728;CSQ=T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134580|4547|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29068571C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134580|4464|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29068571C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134580|4560|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29068571C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.91-841C>T|||||||rs134580||1||||||||||||Ensembl||C|C||||chr22:g.29068571C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134580|4464|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29068571C>T|||||||||||||,T|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+5306G>A|||||||rs134580||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||C|C||||chr22:g.29068571C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134580|4464|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29068571C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134580|4464|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29068571C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134580|4464|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29068571C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134580|4464|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29068571C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=75340;gnomADv4_1_AC_joint_XX=39489;gnomADv4_1_AC_joint_XY=35851;gnomADv4_1_AF_grpmax_joint=0.614583;gnomADv4_1_AF_joint=0.500219;gnomADv4_1_AF_joint_XX=0.511701;gnomADv4_1_AF_joint_XY=0.488154;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=150614;gnomADv4_1_AN_joint_XX=77172;gnomADv4_1_AN_joint_XY=73442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19661;gnomADv4_1_nhomalt_joint_XX=10506;gnomADv4_1_nhomalt_joint_XY=9155;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29068649 chr22_29068649_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.115;CADD_Rawscore=0.375436;CSQ=G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134581|4469|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29068649A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134581|4386|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29068649A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134581|4482|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29068649A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.91-763A>G|||||||rs134581||1||||||||||||Ensembl||A|A||||chr22:g.29068649A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134581|4386|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29068649A>G|||||||||||||,G|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+5228T>C|||||||rs134581||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29068649A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134581|4386|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29068649A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134581|4386|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29068649A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134581|4386|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29068649A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134581|4386|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29068649A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71336;gnomADv4_1_AC_joint_XX=37352;gnomADv4_1_AC_joint_XY=33984;gnomADv4_1_AF_grpmax_joint=0.618056;gnomADv4_1_AF_joint=0.472005;gnomADv4_1_AF_joint_XX=0.482946;gnomADv4_1_AF_joint_XY=0.460538;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=151134;gnomADv4_1_AN_joint_XX=77342;gnomADv4_1_AN_joint_XY=73792;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=17554;gnomADv4_1_nhomalt_joint_XX=9407;gnomADv4_1_nhomalt_joint_XY=8147;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29068759 chr22_29068759_CTTTTTT_C CTTTTTT C 44 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.991;CADDIndel_Rawscore=-0.020188;CSQ=-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134582|4353|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||TTTTTT|TTTTTT||1||chr22:g.29068777_29068782del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134582|4270|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||TTTTTT|TTTTTT||1||chr22:g.29068777_29068782del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134582|4366|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||TTTTTT|TTTTTT||1||chr22:g.29068777_29068782del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||1/1|ENST00000728998.1:n.91-635_91-630del|||||||rs134582||1||||||||||||Ensembl||TTTTTT|TTTTTT|||17|chr22:g.29068777_29068782del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134582|4270|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||TTTTTT|TTTTTT||||chr22:g.29068777_29068782del|||||||||||||,-|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+5112_-121+5117del|||||||rs134582||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||TTTTTT|TTTTTT||||chr22:g.29068777_29068782del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134582|4270|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||TTTTTT|TTTTTT||||chr22:g.29068777_29068782del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134582|4270|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||TTTTTT|TTTTTT||||chr22:g.29068777_29068782del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134582|4270|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||TTTTTT|TTTTTT||||chr22:g.29068777_29068782del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134582|4270|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||TTTTTT|TTTTTT||||chr22:g.29068777_29068782del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55034;gnomADv4_1_AC_joint_XX=29753;gnomADv4_1_AC_joint_XY=25281;gnomADv4_1_AF_grpmax_joint=0.664894;gnomADv4_1_AF_joint=0.486613;gnomADv4_1_AF_joint_XX=0.492599;gnomADv4_1_AF_joint_XY=0.479752;gnomADv4_1_AN_grpmax_joint=188;gnomADv4_1_AN_joint=113096;gnomADv4_1_AN_joint_XX=60400;gnomADv4_1_AN_joint_XY=52696;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=12573;gnomADv4_1_nhomalt_joint_XX=6918;gnomADv4_1_nhomalt_joint_XY=5655;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29069689 chr22_29069689_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=14.8;CADD_Rawscore=1.60711;CSQ=T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134583|3429|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29069689C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134583|3346|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29069689C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134583|3442|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29069689C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs134583|117|1||||||||||||Ensembl||C|C||||chr22:g.29069689C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134583|3346|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29069689C>T|||||||||||||,T|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+4188G>A|||||||rs134583||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||C|C||||chr22:g.29069689C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134583|3346|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29069689C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134583|3346|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29069689C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134583|3346|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29069689C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134583|3346|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29069689C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71584;gnomADv4_1_AC_joint_XX=37492;gnomADv4_1_AC_joint_XY=34092;gnomADv4_1_AF_grpmax_joint=0.608844;gnomADv4_1_AF_joint=0.47114;gnomADv4_1_AF_joint_XX=0.482473;gnomADv4_1_AF_joint_XY=0.459275;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151938;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=17634;gnomADv4_1_nhomalt_joint_XX=9447;gnomADv4_1_nhomalt_joint_XY=8187;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29069807 chr22_29069807_CA_C CA C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=0.071;CADDIndel_Rawscore=-0.704276;CSQ=-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134584|3310|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29069810del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134584|3227|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29069810del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134584|3323|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29069810del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs134584|236|1||||||||||||Ensembl||A|A||||chr22:g.29069810del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134584|3227|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29069810del|||||||||||||,-|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+4069del|||||||rs134584||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29069810del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134584|3227|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29069810del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134584|3227|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29069810del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134584|3227|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29069810del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134584|3227|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29069810del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77048;gnomADv4_1_AC_joint_XX=40285;gnomADv4_1_AC_joint_XY=36763;gnomADv4_1_AF_grpmax_joint=0.639456;gnomADv4_1_AF_joint=0.507737;gnomADv4_1_AF_joint_XX=0.519123;gnomADv4_1_AF_joint_XY=0.495819;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151748;gnomADv4_1_AN_joint_XX=77602;gnomADv4_1_AN_joint_XY=74146;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=20410;gnomADv4_1_nhomalt_joint_XX=10882;gnomADv4_1_nhomalt_joint_XY=9528;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29069881 chr22_29069881_T_C T C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.059;CADD_Rawscore=-0.754168;CSQ=C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134585|3237|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29069881T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134585|3154|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29069881T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134585|3250|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29069881T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs134585|309|1||||||||||||Ensembl||T|T||||chr22:g.29069881T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134585|3154|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29069881T>C|||||||||||||,C|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+3996A>G|||||||rs134585||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29069881T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134585|3154|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29069881T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134585|3154|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29069881T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134585|3154|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29069881T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134585|3154|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29069881T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=76433;gnomADv4_1_AC_joint_XX=40093;gnomADv4_1_AC_joint_XY=36340;gnomADv4_1_AF_grpmax_joint=0.639456;gnomADv4_1_AF_joint=0.507005;gnomADv4_1_AF_joint_XX=0.518842;gnomADv4_1_AF_joint_XY=0.494556;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=150754;gnomADv4_1_AN_joint_XX=77274;gnomADv4_1_AN_joint_XY=73480;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=20258;gnomADv4_1_nhomalt_joint_XX=10837;gnomADv4_1_nhomalt_joint_XY=9421;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29069943 chr22_29069943_CT_C;chr22_29069943_CTT_C CT C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=4.512;CADDIndel_Rawscore=0.410995;CSQ=-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134586|3174|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29069963del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134586|3091|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29069963del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134586|3187|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29069963del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs134586|372|1||||||||||||Ensembl||T|T||||chr22:g.29069963del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134586|3091|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29069963del|||||||||||||,-|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+3933del|||||||rs134586||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29069963del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134586|3091|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29069963del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134586|3091|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29069963del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134586|3091|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29069963del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134586|3091|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29069963del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31508;gnomADv4_1_AC_joint_XX=17432;gnomADv4_1_AC_joint_XY=14076;gnomADv4_1_AF_grpmax_joint=0.423077;gnomADv4_1_AF_joint=0.326874;gnomADv4_1_AF_joint_XX=0.335528;gnomADv4_1_AF_joint_XY=0.316756;gnomADv4_1_AN_grpmax_joint=182;gnomADv4_1_AN_joint=96392;gnomADv4_1_AN_joint_XX=51954;gnomADv4_1_AN_joint_XY=44438;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2614;gnomADv4_1_nhomalt_joint_XX=1433;gnomADv4_1_nhomalt_joint_XY=1181;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29069943 chr22_29069943_CT_C;chr22_29069943_CTT_C CTT C 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=7.163;CADDIndel_Rawscore=0.675847;CSQ=-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134586|3173|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||TT|TT||1||chr22:g.29069962_29069963del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134586|3090|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||TT|TT||1||chr22:g.29069962_29069963del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134586|3186|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||TT|TT||1||chr22:g.29069962_29069963del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs134586|372|1||||||||||||Ensembl||TT|TT||||chr22:g.29069962_29069963del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134586|3090|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||TT|TT||||chr22:g.29069962_29069963del|||||||||||||,-|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+3932_-121+3933del|||||||rs134586||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||TT|TT||||chr22:g.29069962_29069963del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134586|3090|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||TT|TT||||chr22:g.29069962_29069963del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134586|3090|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||TT|TT||||chr22:g.29069962_29069963del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134586|3090|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||TT|TT||||chr22:g.29069962_29069963del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134586|3090|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||TT|TT||||chr22:g.29069962_29069963del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18379;gnomADv4_1_AC_joint_XX=9711;gnomADv4_1_AC_joint_XY=8668;gnomADv4_1_AF_grpmax_joint=0.402511;gnomADv4_1_AF_joint=0.190247;gnomADv4_1_AF_joint_XX=0.186571;gnomADv4_1_AF_joint_XY=0.194542;gnomADv4_1_AN_grpmax_joint=3744;gnomADv4_1_AN_joint=96606;gnomADv4_1_AN_joint_XX=52050;gnomADv4_1_AN_joint_XY=44556;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=977;gnomADv4_1_nhomalt_joint_XX=474;gnomADv4_1_nhomalt_joint_XY=503;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29069985 chr22_29069985_A_G A G 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.61;CADD_Rawscore=-0.143639;CSQ=G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134587|3133|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29069985A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134587|3050|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29069985A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134587|3146|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29069985A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs134587|413|1||||||||||||Ensembl||A|A||||chr22:g.29069985A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134587|3050|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29069985A>G|||||||||||||,G|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+3892T>C|||||||rs134587||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29069985A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134587|3050|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29069985A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134587|3050|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29069985A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134587|3050|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29069985A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134587|3050|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29069985A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72777;gnomADv4_1_AC_joint_XX=38411;gnomADv4_1_AC_joint_XY=34366;gnomADv4_1_AF_grpmax_joint=0.640288;gnomADv4_1_AF_joint=0.521325;gnomADv4_1_AF_joint_XX=0.52774;gnomADv4_1_AF_joint_XY=0.514338;gnomADv4_1_AN_grpmax_joint=278;gnomADv4_1_AN_joint=139600;gnomADv4_1_AN_joint_XX=72784;gnomADv4_1_AN_joint_XY=66816;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19302;gnomADv4_1_nhomalt_joint_XX=10361;gnomADv4_1_nhomalt_joint_XY=8941;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29070213 chr22_29070213_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.057;CADD_Rawscore=-0.003544;CSQ=C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134588|2905|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29070213T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134588|2822|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29070213T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134588|2918|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29070213T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs134588|641|1||||||||||||Ensembl||T|T||||chr22:g.29070213T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134588|2822|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29070213T>C|||||||||||||,C|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+3664A>G|||||||rs134588||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29070213T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134588|2822|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29070213T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134588|2822|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29070213T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134588|2822|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29070213T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134588|2822|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29070213T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=114248;gnomADv4_1_AC_joint_XX=58522;gnomADv4_1_AC_joint_XY=55726;gnomADv4_1_AF_grpmax_joint=0.866221;gnomADv4_1_AF_joint=0.750723;gnomADv4_1_AF_joint_XX=0.752366;gnomADv4_1_AF_joint_XY=0.749005;gnomADv4_1_AN_grpmax_joint=41546;gnomADv4_1_AN_joint=152184;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=43489;gnomADv4_1_nhomalt_joint_XX=22288;gnomADv4_1_nhomalt_joint_XY=21201;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29070358 chr22_29070358_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.331;CADD_Rawscore=-0.29672;CSQ=C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134589|2760|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29070358T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134589|2677|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29070358T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134589|2773|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29070358T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs134589|786|1||||||||||||Ensembl||T|T||||chr22:g.29070358T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134589|2677|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29070358T>C|||||||||||||,C|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+3519A>G|||||||rs134589||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29070358T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134589|2677|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29070358T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134589|2677|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29070358T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134589|2677|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29070358T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134589|2677|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29070358T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77737;gnomADv4_1_AC_joint_XX=40633;gnomADv4_1_AC_joint_XY=37104;gnomADv4_1_AF_grpmax_joint=0.639456;gnomADv4_1_AF_joint=0.511145;gnomADv4_1_AF_joint_XX=0.522597;gnomADv4_1_AF_joint_XY=0.499166;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=20728;gnomADv4_1_nhomalt_joint_XX=11050;gnomADv4_1_nhomalt_joint_XY=9678;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29070837 chr22_29070837_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.043;CADD_Rawscore=0.369014;CSQ=C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134590|2281|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29070837T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134590|2198|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29070837T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134590|2294|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29070837T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs134590|1265|1||||||||||||Ensembl||T|T||||chr22:g.29070837T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134590|2198|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29070837T>C|||||||||||||,C|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+3040A>G|||||||rs134590||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29070837T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134590|2198|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29070837T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134590|2198|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29070837T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134590|2198|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29070837T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134590|2198|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29070837T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77187;gnomADv4_1_AC_joint_XX=40386;gnomADv4_1_AC_joint_XY=36801;gnomADv4_1_AF_grpmax_joint=0.640411;gnomADv4_1_AF_joint=0.509095;gnomADv4_1_AF_joint_XX=0.520881;gnomADv4_1_AF_joint_XY=0.49676;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151616;gnomADv4_1_AN_joint_XX=77534;gnomADv4_1_AN_joint_XY=74082;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=20448;gnomADv4_1_nhomalt_joint_XX=10922;gnomADv4_1_nhomalt_joint_XY=9526;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29070847 chr22_29070847_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.792;CADD_Rawscore=0.134924;CSQ=C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134591|2271|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29070847T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134591|2188|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29070847T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134591|2284|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29070847T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs134591|1275|1||||||||||||Ensembl||T|T||||chr22:g.29070847T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134591|2188|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29070847T>C|||||||||||||,C|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+3030A>G|||||||rs134591||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29070847T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134591|2188|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29070847T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134591|2188|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29070847T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134591|2188|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29070847T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134591|2188|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29070847T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77200;gnomADv4_1_AC_joint_XX=40379;gnomADv4_1_AC_joint_XY=36821;gnomADv4_1_AF_grpmax_joint=0.640411;gnomADv4_1_AF_joint=0.508986;gnomADv4_1_AF_joint_XX=0.52071;gnomADv4_1_AF_joint_XY=0.496722;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151674;gnomADv4_1_AN_joint_XX=77546;gnomADv4_1_AN_joint_XY=74128;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=20452;gnomADv4_1_nhomalt_joint_XX=10917;gnomADv4_1_nhomalt_joint_XY=9535;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29071233 chr22_29071233_G_A G A 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=8.057;CADD_Rawscore=0.775044;CSQ=A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134592|1885|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29071233G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134592|1802|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29071233G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134592|1898|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29071233G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs134592|1661|1||||||||||||Ensembl||G|G||||chr22:g.29071233G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134592|1802|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29071233G>A|||||||||||||,A|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+2644C>T|||||||rs134592||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||G|G||||chr22:g.29071233G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134592|1802|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29071233G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134592|1802|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29071233G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134592|1802|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29071233G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134592|1802|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29071233G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TTZ|enhancer||||||||||rs134592|||||||||||||||||||||chr22:g.29071233G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2,ENSR22_C4TTZ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=114083;gnomADv4_1_AC_joint_XX=58457;gnomADv4_1_AC_joint_XY=55626;gnomADv4_1_AF_grpmax_joint=0.866633;gnomADv4_1_AF_joint=0.750586;gnomADv4_1_AF_joint_XX=0.752168;gnomADv4_1_AF_joint_XY=0.74893;gnomADv4_1_AN_grpmax_joint=41472;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=43417;gnomADv4_1_nhomalt_joint_XX=22258;gnomADv4_1_nhomalt_joint_XY=21159;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29072167 chr22_29072167_C_T C T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.797;CADD_Rawscore=0.135617;CSQ=T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134593|951|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29072167C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134593|868|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29072167C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134593|964|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29072167C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs134593|2595|1||||||||||||Ensembl||C|C||||chr22:g.29072167C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134593|868|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29072167C>T|||1||||||||||,T|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+1710G>A|||||||rs134593||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||C|C||||chr22:g.29072167C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134593|868|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29072167C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134593|868|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29072167C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134593|868|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29072167C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134593|868|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29072167C>T|||1||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TTZ|enhancer||||||||||rs134593|||||||||||||||||||||chr22:g.29072167C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2,ENSR22_C4TTZ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=67846;gnomADv4_1_AC_joint_XX=35542;gnomADv4_1_AC_joint_XY=32304;gnomADv4_1_AF_grpmax_joint=0.591837;gnomADv4_1_AF_joint=0.446884;gnomADv4_1_AF_joint_XX=0.457968;gnomADv4_1_AF_joint_XY=0.435293;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151820;gnomADv4_1_AN_joint_XX=77608;gnomADv4_1_AN_joint_XY=74212;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=16092;gnomADv4_1_nhomalt_joint_XX=8627;gnomADv4_1_nhomalt_joint_XY=7465;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29072468 chr22_29072468_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.826;CADD_Rawscore=0.13989;CSQ=T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs134594|650|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29072468C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs134594|567|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29072468C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs134594|663|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29072468C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs134594|2896|1||||||||||||Ensembl||C|C||||chr22:g.29072468C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs134594|567|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29072468C>T|||1||||||||||,T|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+1409G>A|||||||rs134594||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||C|C||||chr22:g.29072468C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs134594|567|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29072468C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs134594|567|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29072468C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs134594|567|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29072468C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs134594|567|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29072468C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98475;gnomADv4_1_AC_joint_XX=50674;gnomADv4_1_AC_joint_XY=47801;gnomADv4_1_AF_grpmax_joint=0.758503;gnomADv4_1_AF_joint=0.647879;gnomADv4_1_AF_joint_XX=0.652041;gnomADv4_1_AF_joint_XY=0.643525;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151996;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=32148;gnomADv4_1_nhomalt_joint_XX=16592;gnomADv4_1_nhomalt_joint_XY=15556;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29073142 chr22_29073142_A_C A C 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=16.02;CADD_Rawscore=1.84646;CSQ=C|synonymous_variant|LOW|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding|1/10||ENST00000327813.9%3Ac.12A>C|ENSP00000331242.5%3Ap.Pro4%3D|25|12|4|P|ccA/ccC|rs7292708||1||HGNC|HGNC%3A17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22%3Ag.29073142A>C|benign||1||||||||||,C|synonymous_variant|LOW|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding|1/9||ENST00000400335.9%3Ac.12A>C|ENSP00000383189.4%3Ap.Pro4%3D|108|12|4|P|ccA/ccC|rs7292708||1||HGNC|HGNC%3A17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22%3Ag.29073142A>C|benign||1||||||||||,C|synonymous_variant|LOW|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding|1/9||ENST00000407188.5%3Ac.12A>C|ENSP00000385431.1%3Ap.Pro4%3D|12|12|4|P|ccA/ccC|rs7292708||1||HGNC|HGNC%3A17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22%3Ag.29073142A>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs7292708|3570|1||||||||||||Ensembl||A|A||||chr22:g.29073142A>C|benign||1||||||||||,C|synonymous_variant|LOW|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding|1/9||NM_001039570.3%3Ac.12A>C|NP_001034659.2%3Ap.Pro4%3D|108|12|4|P|ccA/ccC|rs7292708||1||EntrezGene|HGNC%3A17550|||NP_001034659.2||||||RefSeq||A|A||||chr22%3Ag.29073142A>C|benign||1||||||||||,C|intron_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||1/2|NM_001386866.1:c.-121+735T>G|||||||rs7292708||-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29073142A>C|benign||1||||||||||,C|synonymous_variant|LOW|KREMEN1|83999|Transcript|NM_032045.5|protein_coding|1/10||NM_032045.5%3Ac.12A>C|NP_114434.3%3Ap.Pro4%3D|108|12|4|P|ccA/ccC|rs7292708||1||EntrezGene|HGNC%3A17550|||NP_114434.3||||||RefSeq||A|A||||chr22%3Ag.29073142A>C|benign||1||||||||||,C|synonymous_variant|LOW|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding|1/9||XM_011530429.3%3Ac.12A>C|XP_011528731.1%3Ap.Pro4%3D|108|12|4|P|ccA/ccC|rs7292708||1||EntrezGene|HGNC%3A17550|||XP_011528731.1||||||RefSeq||A|A||||chr22%3Ag.29073142A>C|benign||1||||||||||,C|synonymous_variant|LOW|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding|1/7||XM_011530430.3%3Ac.12A>C|XP_011528732.1%3Ap.Pro4%3D|108|12|4|P|ccA/ccC|rs7292708||1||EntrezGene|HGNC%3A17550|||XP_011528732.1||||||RefSeq||A|A||||chr22%3Ag.29073142A>C|benign||1||||||||||,C|synonymous_variant|LOW|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding|1/7||XM_017028989.2%3Ac.12A>C|XP_016884478.1%3Ap.Pro4%3D|108|12|4|P|ccA/ccC|rs7292708||1||EntrezGene|HGNC%3A17550|||XP_016884478.1||||||RefSeq||A|A||||chr22%3Ag.29073142A>C|benign||1||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TW6|enhancer||||||||||rs7292708|||||||||||||||||||||chr22:g.29073142A>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29073142A>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=C22orf31:25770|KREMEN1:83999;ClinVar_Variation_ID=1666871;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|39|2|-23|2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2,ENSR22_C4TW6;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=759007;gnomADv4_1_AC_joint_XX=397201;gnomADv4_1_AC_joint_XY=361806;gnomADv4_1_AF_grpmax_joint=0.828806;gnomADv4_1_AF_joint=0.697597;gnomADv4_1_AF_joint_XX=0.697909;gnomADv4_1_AF_joint_XY=0.697256;gnomADv4_1_AN_grpmax_joint=58676;gnomADv4_1_AN_joint=1088030;gnomADv4_1_AN_joint_XX=569130;gnomADv4_1_AN_joint_XY=518900;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=266238;gnomADv4_1_nhomalt_joint_XX=139318;gnomADv4_1_nhomalt_joint_XY=126920;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29074127 chr22_29074127_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=9.394;CADD_Rawscore=0.91372;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+900A>G|||||||rs134596||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29074127A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+900A>G|||||||rs134596||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29074127A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+906A>G|||||||rs134596||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29074127A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000295282|Transcript|ENST00000728998|lncRNA||||||||||rs134596|4555|1||||||||||||Ensembl||A|A||||chr22:g.29074127A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+900A>G|||||||rs134596||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29074127A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs134596|184|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29074127A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+900A>G|||||||rs134596||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29074127A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+900A>G|||||||rs134596||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29074127A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+900A>G|||||||rs134596||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29074127A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+900A>G|||||||rs134596||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29074127A>G|||1||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TW6|enhancer||||||||||rs134596|||||||||||||||||||||chr22:g.29074127A>G|||1||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-29|50|-1|49;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000728998,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2,ENSR22_C4TW6;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000295282,83999,25770,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=112584;gnomADv4_1_AC_joint_XX=57668;gnomADv4_1_AC_joint_XY=54916;gnomADv4_1_AF_grpmax_joint=0.853495;gnomADv4_1_AF_joint=0.739662;gnomADv4_1_AF_joint_XX=0.741158;gnomADv4_1_AF_joint_XY=0.738098;gnomADv4_1_AN_grpmax_joint=41548;gnomADv4_1_AN_joint=152210;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=42228;gnomADv4_1_nhomalt_joint_XX=21642;gnomADv4_1_nhomalt_joint_XY=20586;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29075335 chr22_29075335_A_G A G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=5.083;CADD_Rawscore=0.463595;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+2108A>G|||||||rs134597||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29075335A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+2108A>G|||||||rs134597||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29075335A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+2114A>G|||||||rs134597||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29075335A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+2108A>G|||||||rs134597||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29075335A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs134597|1392|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29075335A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+2108A>G|||||||rs134597||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29075335A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+2108A>G|||||||rs134597||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29075335A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+2108A>G|||||||rs134597||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29075335A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+2108A>G|||||||rs134597||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29075335A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-24|-45|50|4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64839;gnomADv4_1_AC_joint_XX=33899;gnomADv4_1_AC_joint_XY=30940;gnomADv4_1_AF_grpmax_joint=0.588435;gnomADv4_1_AF_joint=0.426634;gnomADv4_1_AF_joint_XX=0.436269;gnomADv4_1_AF_joint_XY=0.416554;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151978;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=14984;gnomADv4_1_nhomalt_joint_XX=8044;gnomADv4_1_nhomalt_joint_XY=6940;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29076721 chr22_29076721_A_G A G 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.677;CADD_Rawscore=-0.117205;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+3494A>G|||||||rs134598||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29076721A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+3494A>G|||||||rs134598||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29076721A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+3500A>G|||||||rs134598||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29076721A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+3494A>G|||||||rs134598||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29076721A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs134598|2778|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29076721A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+3494A>G|||||||rs134598||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29076721A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+3494A>G|||||||rs134598||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29076721A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+3494A>G|||||||rs134598||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29076721A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+3494A>G|||||||rs134598||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29076721A>G|||1||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-14|18|34|-3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=113518;gnomADv4_1_AC_joint_XX=58170;gnomADv4_1_AC_joint_XY=55348;gnomADv4_1_AF_grpmax_joint=0.874331;gnomADv4_1_AF_joint=0.74679;gnomADv4_1_AF_joint_XX=0.748591;gnomADv4_1_AF_joint_XY=0.744906;gnomADv4_1_AN_grpmax_joint=41482;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=43089;gnomADv4_1_nhomalt_joint_XX=22106;gnomADv4_1_nhomalt_joint_XY=20983;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29076875 chr22_29076875_G_A G A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.457;CADD_Rawscore=-0.215675;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+3648G>A|||||||rs134599||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29076875G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+3648G>A|||||||rs134599||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29076875G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+3654G>A|||||||rs134599||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29076875G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+3648G>A|||||||rs134599||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29076875G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs134599|2932|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||G|G||||chr22:g.29076875G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+3648G>A|||||||rs134599||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29076875G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+3648G>A|||||||rs134599||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29076875G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+3648G>A|||||||rs134599||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29076875G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+3648G>A|||||||rs134599||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29076875G>A|||1||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|9|1|-5|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97631;gnomADv4_1_AC_joint_XX=50114;gnomADv4_1_AC_joint_XY=47517;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.642014;gnomADv4_1_AF_joint_XX=0.644553;gnomADv4_1_AF_joint_XY=0.639357;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31551;gnomADv4_1_nhomalt_joint_XX=16211;gnomADv4_1_nhomalt_joint_XY=15340;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29076896 chr22_29076896_T_C T C 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=3.093;CADD_Rawscore=0.283325;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+3669T>C|||||||rs134600||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29076896T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+3669T>C|||||||rs134600||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29076896T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+3675T>C|||||||rs134600||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29076896T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+3669T>C|||||||rs134600||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29076896T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs134600|2953|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29076896T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+3669T>C|||||||rs134600||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29076896T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+3669T>C|||||||rs134600||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29076896T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+3669T>C|||||||rs134600||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29076896T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+3669T>C|||||||rs134600||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29076896T>C|||1||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-13|20|-13|-22;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97722;gnomADv4_1_AC_joint_XX=50164;gnomADv4_1_AC_joint_XY=47558;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.642587;gnomADv4_1_AF_joint_XX=0.645196;gnomADv4_1_AF_joint_XY=0.639857;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31603;gnomADv4_1_nhomalt_joint_XX=16244;gnomADv4_1_nhomalt_joint_XY=15359;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29077507 chr22_29077507_G_T G T 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.47;CADD_Rawscore=0.082754;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+4280G>T|||||||rs134601||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29077507G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+4280G>T|||||||rs134601||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29077507G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+4286G>T|||||||rs134601||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29077507G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+4280G>T|||||||rs134601||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29077507G>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs134601|3564|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||G|G||||chr22:g.29077507G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+4280G>T|||||||rs134601||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29077507G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+4280G>T|||||||rs134601||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29077507G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+4280G>T|||||||rs134601||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29077507G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+4280G>T|||||||rs134601||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29077507G>T|||1||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|-15|27|4|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97651;gnomADv4_1_AC_joint_XX=50111;gnomADv4_1_AC_joint_XY=47540;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.641858;gnomADv4_1_AF_joint_XX=0.644398;gnomADv4_1_AF_joint_XY=0.639202;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31540;gnomADv4_1_nhomalt_joint_XX=16200;gnomADv4_1_nhomalt_joint_XY=15340;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29077896 chr22_29077896_A_G A G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.816;CADD_Rawscore=0.13848;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+4669A>G|||||||rs134602||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29077896A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+4669A>G|||||||rs134602||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29077896A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+4675A>G|||||||rs134602||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29077896A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+4669A>G|||||||rs134602||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29077896A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs134602|3953|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29077896A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+4669A>G|||||||rs134602||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29077896A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+4669A>G|||||||rs134602||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29077896A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+4669A>G|||||||rs134602||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29077896A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+4669A>G|||||||rs134602||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29077896A>G|||1||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|44|19|18|-26;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97648;gnomADv4_1_AC_joint_XX=50118;gnomADv4_1_AC_joint_XY=47530;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.642176;gnomADv4_1_AF_joint_XX=0.644754;gnomADv4_1_AF_joint_XY=0.63948;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31566;gnomADv4_1_nhomalt_joint_XX=16219;gnomADv4_1_nhomalt_joint_XY=15347;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29077908 chr22_29077908_T_A T A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.148;CADD_Rawscore=-0.506175;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+4681T>A|||||||rs134603||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29077908T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+4681T>A|||||||rs134603||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29077908T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+4687T>A|||||||rs134603||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29077908T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+4681T>A|||||||rs134603||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29077908T>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs134603|3965|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29077908T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+4681T>A|||||||rs134603||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29077908T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+4681T>A|||||||rs134603||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29077908T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+4681T>A|||||||rs134603||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29077908T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+4681T>A|||||||rs134603||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29077908T>A|||1||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|32|7|-27|-38;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97449;gnomADv4_1_AC_joint_XX=50041;gnomADv4_1_AC_joint_XY=47408;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.642083;gnomADv4_1_AF_joint_XX=0.644642;gnomADv4_1_AF_joint_XY=0.639404;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151770;gnomADv4_1_AN_joint_XX=77626;gnomADv4_1_AN_joint_XY=74144;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31504;gnomADv4_1_nhomalt_joint_XX=16189;gnomADv4_1_nhomalt_joint_XY=15315;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29078089 chr22_29078089_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.091;CADD_Rawscore=0.004782;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+4862A>G|||||||rs134604||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29078089A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+4862A>G|||||||rs134604||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29078089A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+4868A>G|||||||rs134604||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29078089A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+4862A>G|||||||rs134604||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29078089A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs134604|4146|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||A|A||||chr22:g.29078089A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+4862A>G|||||||rs134604||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29078089A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+4862A>G|||||||rs134604||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29078089A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+4862A>G|||||||rs134604||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29078089A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+4862A>G|||||||rs134604||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29078089A>G|||1||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-17|40|20|-19;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,25770,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97447;gnomADv4_1_AC_joint_XX=50032;gnomADv4_1_AC_joint_XY=47415;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.642197;gnomADv4_1_AF_joint_XX=0.644692;gnomADv4_1_AF_joint_XY=0.639585;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151740;gnomADv4_1_AN_joint_XX=77606;gnomADv4_1_AN_joint_XY=74134;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31486;gnomADv4_1_nhomalt_joint_XX=16180;gnomADv4_1_nhomalt_joint_XY=15306;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29078289 chr22_29078289_T_G T G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.777;CADD_Rawscore=-0.08243;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+5062T>G|||||||rs134605||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29078289T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+5062T>G|||||||rs134605||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29078289T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+5068T>G|||||||rs134605||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29078289T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+5062T>G|||||||rs134605||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29078289T>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs134605|4346|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq||T|T||||chr22:g.29078289T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+5062T>G|||||||rs134605||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29078289T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+5062T>G|||||||rs134605||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29078289T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+5062T>G|||||||rs134605||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29078289T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+5062T>G|||||||rs134605||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29078289T>G|||1||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8T48R|enhancer||||||||||rs134605|||||||||||||||||||||chr22:g.29078289T>G|||1||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|27|17|37|17;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2,ENSR22_8T48R;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,25770,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97564;gnomADv4_1_AC_joint_XX=50103;gnomADv4_1_AC_joint_XY=47461;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.642342;gnomADv4_1_AF_joint_XX=0.644926;gnomADv4_1_AF_joint_XY=0.639636;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151888;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74200;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31540;gnomADv4_1_nhomalt_joint_XX=16213;gnomADv4_1_nhomalt_joint_XY=15327;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29078494 chr22_29078494_A_AAAG A AAAG 44 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.419;CADDIndel_Rawscore=-0.237484;CSQ=AAG|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+5282_97+5284dup|||||||rs134606||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|17|chr22:g.29078509_29078511dup|||||||||||||,AAG|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+5282_97+5284dup|||||||rs134606||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|17|chr22:g.29078509_29078511dup|||||||||||||,AAG|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+5288_91+5290dup|||||||rs134606||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|17|chr22:g.29078509_29078511dup|||||||||||||,AAG|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+5282_97+5284dup|||||||rs134606||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||17|chr22:g.29078509_29078511dup|||||||||||||,AAG|upstream_gene_variant|MODIFIER|C22orf31|25770|Transcript|NM_001386866.1|protein_coding||||||||||rs134606|4551|-1||EntrezGene|HGNC:26931|||NP_001373795.1||||||RefSeq|||||||chr22:g.29078509_29078511dup|||||||||||||,AAG|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+5282_97+5284dup|||||||rs134606||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||17|chr22:g.29078509_29078511dup|||||||||||||,AAG|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+5282_97+5284dup|||||||rs134606||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||17|chr22:g.29078509_29078511dup|||||||||||||,AAG|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+5282_97+5284dup|||||||rs134606||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||17|chr22:g.29078509_29078511dup|||||||||||||,AAG|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+5282_97+5284dup|||||||rs134606||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||17|chr22:g.29078509_29078511dup|||||||||||||,AAG|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8T48R|enhancer||||||||||rs134606|||||||||||||||||||||chr22:g.29078509_29078511dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAG,AAG,AAG,AAG,AAG,AAG,AAG,AAG,AAG,AAG;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_001386866.1,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2,ENSR22_8T48R;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,25770,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,C22orf31,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91584;gnomADv4_1_AC_joint_XX=47490;gnomADv4_1_AC_joint_XY=44094;gnomADv4_1_AF_grpmax_joint=0.764085;gnomADv4_1_AF_joint=0.621473;gnomADv4_1_AF_joint_XX=0.625527;gnomADv4_1_AF_joint_XY=0.617165;gnomADv4_1_AN_grpmax_joint=284;gnomADv4_1_AN_joint=147366;gnomADv4_1_AN_joint_XX=75920;gnomADv4_1_AN_joint_XY=71446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=28628;gnomADv4_1_nhomalt_joint_XX=14871;gnomADv4_1_nhomalt_joint_XY=13757;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29079136 chr22_29079136_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.025;CADD_Rawscore=-0.011439;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+5909A>G|||||||rs134607||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29079136A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+5909A>G|||||||rs134607||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29079136A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+5915A>G|||||||rs134607||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29079136A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+5909A>G|||||||rs134607||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29079136A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+5909A>G|||||||rs134607||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29079136A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+5909A>G|||||||rs134607||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29079136A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+5909A>G|||||||rs134607||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29079136A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+5909A>G|||||||rs134607||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29079136A>G|||1||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TWJ|enhancer||||||||||rs134607|||||||||||||||||||||chr22:g.29079136A>G|||1||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-31|5|6|-10;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2,ENSR22_C4TWJ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97698;gnomADv4_1_AC_joint_XX=50160;gnomADv4_1_AC_joint_XY=47538;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.642361;gnomADv4_1_AF_joint_XX=0.645062;gnomADv4_1_AF_joint_XY=0.639536;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31591;gnomADv4_1_nhomalt_joint_XX=16235;gnomADv4_1_nhomalt_joint_XY=15356;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29079221 chr22_29079221_T_C T C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.052;CADD_Rawscore=-0.788207;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+5994T>C|||||||rs134608||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29079221T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+5994T>C|||||||rs134608||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29079221T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+6000T>C|||||||rs134608||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29079221T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+5994T>C|||||||rs134608||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29079221T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+5994T>C|||||||rs134608||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29079221T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+5994T>C|||||||rs134608||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29079221T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+5994T>C|||||||rs134608||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29079221T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+5994T>C|||||||rs134608||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29079221T>C|||1||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TWJ|enhancer||||||||||rs134608|||||||||||||||||||||chr22:g.29079221T>C|||1||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|38|22|-32|21;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2,ENSR22_C4TWJ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111532;gnomADv4_1_AC_joint_XX=57126;gnomADv4_1_AC_joint_XY=54406;gnomADv4_1_AF_grpmax_joint=0.843537;gnomADv4_1_AF_joint=0.733107;gnomADv4_1_AF_joint_XX=0.734645;gnomADv4_1_AF_joint_XY=0.731499;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=41340;gnomADv4_1_nhomalt_joint_XX=21209;gnomADv4_1_nhomalt_joint_XY=20131;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29079595 chr22_29079595_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=15.01;CADD_Rawscore=1.64594;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+6368C>T|||||||rs134609||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29079595C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+6368C>T|||||||rs134609||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29079595C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+6374C>T|||||||rs134609||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29079595C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+6368C>T|||||||rs134609||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29079595C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+6368C>T|||||||rs134609||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29079595C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+6368C>T|||||||rs134609||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29079595C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+6368C>T|||||||rs134609||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29079595C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+6368C>T|||||||rs134609||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29079595C>T|||1||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4TWJ|enhancer||||||||||rs134609|||||||||||||||||||||chr22:g.29079595C>T|||1||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|-32|10|5|10;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2,ENSR22_C4TWJ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97737;gnomADv4_1_AC_joint_XX=50157;gnomADv4_1_AC_joint_XY=47580;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.642111;gnomADv4_1_AF_joint_XX=0.644741;gnomADv4_1_AF_joint_XY=0.639361;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152212;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31594;gnomADv4_1_nhomalt_joint_XX=16231;gnomADv4_1_nhomalt_joint_XY=15363;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29080476 chr22_29080476_CA_C CA C 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.564;CADDIndel_Rawscore=-0.163199;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+7251del|||||||rs134610||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1|1|chr22:g.29080478del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+7251del|||||||rs134610||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1|1|chr22:g.29080478del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+7257del|||||||rs134610||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1|1|chr22:g.29080478del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+7251del|||||||rs134610||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A|||1|chr22:g.29080478del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+7251del|||||||rs134610||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A|||1|chr22:g.29080478del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+7251del|||||||rs134610||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A|||1|chr22:g.29080478del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+7251del|||||||rs134610||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A|||1|chr22:g.29080478del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+7251del|||||||rs134610||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A|||1|chr22:g.29080478del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7QS9|enhancer||||||||||rs134610|||||||||||||||||||||chr22:g.29080478del|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|46|-40|44|-36;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2,ENSR22_B7QS9;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=110978;gnomADv4_1_AC_joint_XX=56812;gnomADv4_1_AC_joint_XY=54166;gnomADv4_1_AF_grpmax_joint=0.836735;gnomADv4_1_AF_joint=0.72984;gnomADv4_1_AF_joint_XX=0.730927;gnomADv4_1_AF_joint_XY=0.728704;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=40906;gnomADv4_1_nhomalt_joint_XX=20930;gnomADv4_1_nhomalt_joint_XY=19976;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29080856 chr22_29080856_C_G C G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.787;CADD_Rawscore=-0.079345;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+7629C>G|||||||rs134611||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29080856C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+7629C>G|||||||rs134611||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29080856C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+7635C>G|||||||rs134611||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29080856C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+7629C>G|||||||rs134611||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29080856C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+7629C>G|||||||rs134611||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29080856C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+7629C>G|||||||rs134611||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29080856C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+7629C>G|||||||rs134611||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29080856C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+7629C>G|||||||rs134611||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29080856C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7QS9|enhancer||||||||||rs134611|||||||||||||||||||||chr22:g.29080856C>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-5|31|46|31;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2,ENSR22_B7QS9;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46799;gnomADv4_1_AC_joint_XX=24652;gnomADv4_1_AC_joint_XY=22147;gnomADv4_1_AF_grpmax_joint=0.482759;gnomADv4_1_AF_joint=0.308538;gnomADv4_1_AF_joint_XX=0.317631;gnomADv4_1_AF_joint_XY=0.299009;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=151680;gnomADv4_1_AN_joint_XX=77612;gnomADv4_1_AN_joint_XY=74068;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9243;gnomADv4_1_nhomalt_joint_XX=5029;gnomADv4_1_nhomalt_joint_XY=4214;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29080941 chr22_29080941_C_CTTCTT C CTTCTT 21 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=21;CADDIndel_PHREDscore=1.851;CADDIndel_Rawscore=0.143433;CSQ=TTCTT|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+7716_97+7717insCTTTT|||||||rs134612||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|2|chr22:g.29080943_29080944insCTTTT|||||||||||||,TTCTT|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+7716_97+7717insCTTTT|||||||rs134612||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|2|chr22:g.29080943_29080944insCTTTT|||||||||||||,TTCTT|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+7722_91+7723insCTTTT|||||||rs134612||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|2|chr22:g.29080943_29080944insCTTTT|||||||||||||,TTCTT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+7716_97+7717insCTTTT|||||||rs134612||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||2|chr22:g.29080943_29080944insCTTTT|||||||||||||,TTCTT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+7716_97+7717insCTTTT|||||||rs134612||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||2|chr22:g.29080943_29080944insCTTTT|||||||||||||,TTCTT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+7716_97+7717insCTTTT|||||||rs134612||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||2|chr22:g.29080943_29080944insCTTTT|||||||||||||,TTCTT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+7716_97+7717insCTTTT|||||||rs134612||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||2|chr22:g.29080943_29080944insCTTTT|||||||||||||,TTCTT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+7716_97+7717insCTTTT|||||||rs134612||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||2|chr22:g.29080943_29080944insCTTTT|||||||||||||;TYPE=INDEL;VEP_Allele=TTCTT,TTCTT,TTCTT,TTCTT,TTCTT,TTCTT,TTCTT,TTCTT;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48366;gnomADv4_1_AC_joint_XX=26540;gnomADv4_1_AC_joint_XY=21826;gnomADv4_1_AF_grpmax_joint=0.583333;gnomADv4_1_AF_joint=0.432728;gnomADv4_1_AF_joint_XX=0.444021;gnomADv4_1_AF_joint_XY=0.419747;gnomADv4_1_AN_grpmax_joint=180;gnomADv4_1_AN_joint=111770;gnomADv4_1_AN_joint_XX=59772;gnomADv4_1_AN_joint_XY=51998;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11498;gnomADv4_1_nhomalt_joint_XX=6396;gnomADv4_1_nhomalt_joint_XY=5102;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29081396 chr22_29081396_T_G T G 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.929;CADD_Rawscore=-0.036834;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+8169T>G|||||||rs134613||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29081396T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+8169T>G|||||||rs134613||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29081396T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+8175T>G|||||||rs134613||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29081396T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+8169T>G|||||||rs134613||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29081396T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+8169T>G|||||||rs134613||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29081396T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+8169T>G|||||||rs134613||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29081396T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+8169T>G|||||||rs134613||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29081396T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+8169T>G|||||||rs134613||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29081396T>G|||1||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-49|16|14|-2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=99868;gnomADv4_1_AC_joint_XX=51298;gnomADv4_1_AC_joint_XY=48570;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.657364;gnomADv4_1_AF_joint_XX=0.660444;gnomADv4_1_AF_joint_XY=0.654141;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151922;gnomADv4_1_AN_joint_XX=77672;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=33093;gnomADv4_1_nhomalt_joint_XX=17026;gnomADv4_1_nhomalt_joint_XY=16067;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29081623 chr22_29081623_C_T C T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.217;CADD_Rawscore=-0.405521;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+8396C>T|||||||rs134614||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29081623C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+8396C>T|||||||rs134614||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29081623C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+8402C>T|||||||rs134614||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29081623C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+8396C>T|||||||rs134614||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29081623C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+8396C>T|||||||rs134614||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29081623C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+8396C>T|||||||rs134614||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29081623C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+8396C>T|||||||rs134614||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29081623C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+8396C>T|||||||rs134614||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29081623C>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|5|-4|-6|27;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=75288;gnomADv4_1_AC_joint_XX=39393;gnomADv4_1_AC_joint_XY=35895;gnomADv4_1_AF_grpmax_joint=0.629252;gnomADv4_1_AF_joint=0.495655;gnomADv4_1_AF_joint_XX=0.507132;gnomADv4_1_AF_joint_XY=0.483643;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151896;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19418;gnomADv4_1_nhomalt_joint_XX=10377;gnomADv4_1_nhomalt_joint_XY=9041;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29081704 chr22_29081704_A_C A C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=10.44;CADD_Rawscore=1.00925;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+8477A>C|||||||rs134615||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29081704A>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+8477A>C|||||||rs134615||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29081704A>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+8483A>C|||||||rs134615||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29081704A>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+8477A>C|||||||rs134615||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29081704A>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+8477A>C|||||||rs134615||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29081704A>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+8477A>C|||||||rs134615||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29081704A>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+8477A>C|||||||rs134615||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29081704A>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+8477A>C|||||||rs134615||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29081704A>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-18|10|-18|-50;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71935;gnomADv4_1_AC_joint_XX=37616;gnomADv4_1_AC_joint_XY=34319;gnomADv4_1_AF_grpmax_joint=0.608844;gnomADv4_1_AF_joint=0.473219;gnomADv4_1_AF_joint_XX=0.483932;gnomADv4_1_AF_joint_XY=0.46201;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=17801;gnomADv4_1_nhomalt_joint_XX=9517;gnomADv4_1_nhomalt_joint_XY=8284;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29081853 chr22_29081853_T_G T G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.806;CADD_Rawscore=0.255506;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+8626T>G|||||||rs20037||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29081853T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+8626T>G|||||||rs20037||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29081853T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+8632T>G|||||||rs20037||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29081853T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+8626T>G|||||||rs20037||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29081853T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+8626T>G|||||||rs20037||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29081853T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+8626T>G|||||||rs20037||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29081853T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+8626T>G|||||||rs20037||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29081853T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+8626T>G|||||||rs20037||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29081853T>G|||1||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-28|28|37|-14;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97415;gnomADv4_1_AC_joint_XX=50007;gnomADv4_1_AC_joint_XY=47408;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.640787;gnomADv4_1_AF_joint_XX=0.643392;gnomADv4_1_AF_joint_XY=0.638062;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152024;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31423;gnomADv4_1_nhomalt_joint_XX=16158;gnomADv4_1_nhomalt_joint_XY=15265;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29082091 chr22_29082091_TC_T TC T 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=1.054;CADDIndel_Rawscore=-0.004292;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+8866del|||||||rs112991290||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1|1|chr22:g.29082093del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+8866del|||||||rs112991290||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1|1|chr22:g.29082093del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+8872del|||||||rs112991290||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1|1|chr22:g.29082093del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+8866del|||||||rs112991290||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C|||1|chr22:g.29082093del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+8866del|||||||rs112991290||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C|||1|chr22:g.29082093del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+8866del|||||||rs112991290||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C|||1|chr22:g.29082093del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+8866del|||||||rs112991290||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C|||1|chr22:g.29082093del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+8866del|||||||rs112991290||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C|||1|chr22:g.29082093del|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|-48|-13|-38|30;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98365;gnomADv4_1_AC_joint_XX=50517;gnomADv4_1_AC_joint_XY=47848;gnomADv4_1_AF_grpmax_joint=0.784247;gnomADv4_1_AF_joint=0.647274;gnomADv4_1_AF_joint_XX=0.650171;gnomADv4_1_AF_joint_XY=0.644244;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151968;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=32080;gnomADv4_1_nhomalt_joint_XX=16501;gnomADv4_1_nhomalt_joint_XY=15579;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29082097 chr22_29082097_T_TTATCTCCTTTTCATCTAACTGA T TTATCTCCTTTTCATCTAACTGA 36 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=5.407;CADDIndel_Rawscore=0.494594;CSQ=TATCTCCTTTTCATCTAACTGA|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+8870_97+8871insTATCTCCTTTTCATCTAACTGA|||||||rs11272976||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1||chr22:g.29082097_29082098insTATCTCCTTTTCATCTAACTGA|||||||||||||,TATCTCCTTTTCATCTAACTGA|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+8870_97+8871insTATCTCCTTTTCATCTAACTGA|||||||rs11272976||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1||chr22:g.29082097_29082098insTATCTCCTTTTCATCTAACTGA|||||||||||||,TATCTCCTTTTCATCTAACTGA|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+8876_91+8877insTATCTCCTTTTCATCTAACTGA|||||||rs11272976||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1||chr22:g.29082097_29082098insTATCTCCTTTTCATCTAACTGA|||||||||||||,TATCTCCTTTTCATCTAACTGA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+8870_97+8871insTATCTCCTTTTCATCTAACTGA|||||||rs11272976||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq|||||||chr22:g.29082097_29082098insTATCTCCTTTTCATCTAACTGA|||||||||||||,TATCTCCTTTTCATCTAACTGA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+8870_97+8871insTATCTCCTTTTCATCTAACTGA|||||||rs11272976||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq|||||||chr22:g.29082097_29082098insTATCTCCTTTTCATCTAACTGA|||||||||||||,TATCTCCTTTTCATCTAACTGA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+8870_97+8871insTATCTCCTTTTCATCTAACTGA|||||||rs11272976||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq|||||||chr22:g.29082097_29082098insTATCTCCTTTTCATCTAACTGA|||||||||||||,TATCTCCTTTTCATCTAACTGA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+8870_97+8871insTATCTCCTTTTCATCTAACTGA|||||||rs11272976||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq|||||||chr22:g.29082097_29082098insTATCTCCTTTTCATCTAACTGA|||||||||||||,TATCTCCTTTTCATCTAACTGA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+8870_97+8871insTATCTCCTTTTCATCTAACTGA|||||||rs11272976||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq|||||||chr22:g.29082097_29082098insTATCTCCTTTTCATCTAACTGA|||||||||||||;TYPE=INDEL;VEP_Allele=TATCTCCTTTTCATCTAACTGA,TATCTCCTTTTCATCTAACTGA,TATCTCCTTTTCATCTAACTGA,TATCTCCTTTTCATCTAACTGA,TATCTCCTTTTCATCTAACTGA,TATCTCCTTTTCATCTAACTGA,TATCTCCTTTTCATCTAACTGA,TATCTCCTTTTCATCTAACTGA;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98365;gnomADv4_1_AC_joint_XX=50514;gnomADv4_1_AC_joint_XY=47851;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.647394;gnomADv4_1_AF_joint_XX=0.650317;gnomADv4_1_AF_joint_XY=0.644336;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151940;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=32078;gnomADv4_1_nhomalt_joint_XX=16499;gnomADv4_1_nhomalt_joint_XY=15579;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29082268 chr22_29082268_G_A G A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.766;CADD_Rawscore=-0.086174;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+9041G>A|||||||rs134618||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29082268G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+9041G>A|||||||rs134618||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29082268G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+9047G>A|||||||rs134618||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29082268G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+9041G>A|||||||rs134618||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29082268G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+9041G>A|||||||rs134618||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29082268G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+9041G>A|||||||rs134618||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29082268G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+9041G>A|||||||rs134618||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29082268G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+9041G>A|||||||rs134618||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29082268G>A|||||||||||||;SpliceAI=A|KREMEN1|0.02|0.00|0.00|0.00|-29|-41|24|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74918;gnomADv4_1_AC_joint_XX=39169;gnomADv4_1_AC_joint_XY=35749;gnomADv4_1_AF_grpmax_joint=0.629252;gnomADv4_1_AF_joint=0.493902;gnomADv4_1_AF_joint_XX=0.504872;gnomADv4_1_AF_joint_XY=0.482417;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151686;gnomADv4_1_AN_joint_XX=77582;gnomADv4_1_AN_joint_XY=74104;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19239;gnomADv4_1_nhomalt_joint_XX=10258;gnomADv4_1_nhomalt_joint_XY=8981;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29082386 chr22_29082386_C_T C T 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=6.725;CADD_Rawscore=0.628514;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+9159C>T|||||||rs134619||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29082386C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+9159C>T|||||||rs134619||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29082386C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+9165C>T|||||||rs134619||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29082386C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+9159C>T|||||||rs134619||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29082386C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+9159C>T|||||||rs134619||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29082386C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+9159C>T|||||||rs134619||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29082386C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+9159C>T|||||||rs134619||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29082386C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+9159C>T|||||||rs134619||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29082386C>T|||1||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.01|0.00|-50|-7|-50|23;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97198;gnomADv4_1_AC_joint_XX=49908;gnomADv4_1_AC_joint_XY=47290;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.639974;gnomADv4_1_AF_joint_XX=0.642614;gnomADv4_1_AF_joint_XY=0.637211;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151878;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31301;gnomADv4_1_nhomalt_joint_XX=16092;gnomADv4_1_nhomalt_joint_XY=15209;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29082772 chr22_29082772_T_C T C 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=4.378;CADD_Rawscore=0.398924;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+9545T>C|||||||rs134620||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29082772T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+9545T>C|||||||rs134620||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29082772T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+9551T>C|||||||rs134620||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29082772T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+9545T>C|||||||rs134620||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29082772T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+9545T>C|||||||rs134620||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29082772T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+9545T>C|||||||rs134620||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29082772T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+9545T>C|||||||rs134620||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29082772T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+9545T>C|||||||rs134620||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29082772T>C|||1||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-46|14|3|15;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97315;gnomADv4_1_AC_joint_XX=49952;gnomADv4_1_AC_joint_XY=47363;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.639936;gnomADv4_1_AF_joint_XX=0.642552;gnomADv4_1_AF_joint_XY=0.637199;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31343;gnomADv4_1_nhomalt_joint_XX=16110;gnomADv4_1_nhomalt_joint_XY=15233;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29082843 chr22_29082843_G_T G T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.156;CADD_Rawscore=0.289246;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+9616G>T|||||||rs134621||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29082843G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+9616G>T|||||||rs134621||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29082843G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+9622G>T|||||||rs134621||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29082843G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+9616G>T|||||||rs134621||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29082843G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+9616G>T|||||||rs134621||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29082843G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+9616G>T|||||||rs134621||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29082843G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+9616G>T|||||||rs134621||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29082843G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+9616G>T|||||||rs134621||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29082843G>T|||1||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|13|1|34|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97312;gnomADv4_1_AC_joint_XX=49952;gnomADv4_1_AC_joint_XY=47360;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.639764;gnomADv4_1_AF_joint_XX=0.64242;gnomADv4_1_AF_joint_XY=0.636987;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152106;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31335;gnomADv4_1_nhomalt_joint_XX=16109;gnomADv4_1_nhomalt_joint_XY=15226;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29083102 chr22_29083102_T_G T G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.472;CADD_Rawscore=-0.207402;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+9875T>G|||||||rs134622||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29083102T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+9875T>G|||||||rs134622||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29083102T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+9881T>G|||||||rs134622||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29083102T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+9875T>G|||||||rs134622||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29083102T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+9875T>G|||||||rs134622||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29083102T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+9875T>G|||||||rs134622||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29083102T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+9875T>G|||||||rs134622||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29083102T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+9875T>G|||||||rs134622||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29083102T>G|||1||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-7|13|35|-36;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111030;gnomADv4_1_AC_joint_XX=56834;gnomADv4_1_AC_joint_XY=54196;gnomADv4_1_AF_grpmax_joint=0.836735;gnomADv4_1_AF_joint=0.730192;gnomADv4_1_AF_joint_XX=0.731172;gnomADv4_1_AF_joint_XY=0.729166;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=40948;gnomADv4_1_nhomalt_joint_XX=20943;gnomADv4_1_nhomalt_joint_XY=20005;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29083205 chr22_29083205_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.505;CADD_Rawscore=-0.190766;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+9978G>A|||||||rs134623||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29083205G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+9978G>A|||||||rs134623||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29083205G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+9984G>A|||||||rs134623||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29083205G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+9978G>A|||||||rs134623||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29083205G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+9978G>A|||||||rs134623||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29083205G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+9978G>A|||||||rs134623||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29083205G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+9978G>A|||||||rs134623||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29083205G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+9978G>A|||||||rs134623||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29083205G>A|||1||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|-15|21|-15|42;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97332;gnomADv4_1_AC_joint_XX=49950;gnomADv4_1_AC_joint_XY=47382;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.639837;gnomADv4_1_AF_joint_XX=0.642345;gnomADv4_1_AF_joint_XY=0.637215;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31347;gnomADv4_1_nhomalt_joint_XX=16108;gnomADv4_1_nhomalt_joint_XY=15239;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29083243 chr22_29083243_G_C G C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.176;CADD_Rawscore=0.024385;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.97+10016G>C|||||||rs134624||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29083243G>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.97+10016G>C|||||||rs134624||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29083243G>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.91+10022G>C|||||||rs134624||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29083243G>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.97+10016G>C|||||||rs134624||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29083243G>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.97+10016G>C|||||||rs134624||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29083243G>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.97+10016G>C|||||||rs134624||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29083243G>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.97+10016G>C|||||||rs134624||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29083243G>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.97+10016G>C|||||||rs134624||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29083243G>C|||1||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|6|1|36|27;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97245;gnomADv4_1_AC_joint_XX=49920;gnomADv4_1_AC_joint_XY=47325;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.639736;gnomADv4_1_AF_joint_XX=0.642339;gnomADv4_1_AF_joint_XY=0.637013;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31312;gnomADv4_1_nhomalt_joint_XX=16099;gnomADv4_1_nhomalt_joint_XY=15213;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29083896 chr22_29083896_G_T G T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.376;CADD_Rawscore=0.06555;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-10362G>T|||||||rs134625||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29083896G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-10362G>T|||||||rs134625||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29083896G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-10362G>T|||||||rs134625||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29083896G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-10362G>T|||||||rs134625||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29083896G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-10362G>T|||||||rs134625||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29083896G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-10362G>T|||||||rs134625||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29083896G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-10362G>T|||||||rs134625||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29083896G>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-10362G>T|||||||rs134625||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29083896G>T|||1||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|31|-1|-29|-1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96746;gnomADv4_1_AC_joint_XX=49709;gnomADv4_1_AC_joint_XY=47037;gnomADv4_1_AF_grpmax_joint=0.77931;gnomADv4_1_AF_joint=0.638613;gnomADv4_1_AF_joint_XX=0.641307;gnomADv4_1_AF_joint_XY=0.63579;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=151494;gnomADv4_1_AN_joint_XX=77512;gnomADv4_1_AN_joint_XY=73982;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31066;gnomADv4_1_nhomalt_joint_XX=15987;gnomADv4_1_nhomalt_joint_XY=15079;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29083902 chr22_29083902_C_A C A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.704;CADD_Rawscore=-0.107392;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-10356C>A|||||||rs134626||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29083902C>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-10356C>A|||||||rs134626||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29083902C>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-10356C>A|||||||rs134626||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29083902C>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-10356C>A|||||||rs134626||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29083902C>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-10356C>A|||||||rs134626||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29083902C>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-10356C>A|||||||rs134626||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29083902C>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-10356C>A|||||||rs134626||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29083902C>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-10356C>A|||||||rs134626||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29083902C>A|||1||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|25|48|-7|48;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97905;gnomADv4_1_AC_joint_XX=50323;gnomADv4_1_AC_joint_XY=47582;gnomADv4_1_AF_grpmax_joint=0.77931;gnomADv4_1_AF_joint=0.646528;gnomADv4_1_AF_joint_XX=0.649463;gnomADv4_1_AF_joint_XY=0.643452;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=151432;gnomADv4_1_AN_joint_XX=77484;gnomADv4_1_AN_joint_XY=73948;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31826;gnomADv4_1_nhomalt_joint_XX=16394;gnomADv4_1_nhomalt_joint_XY=15432;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29084036 chr22_29084036_G_T G T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.825;CADD_Rawscore=-0.067287;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-10222G>T|||||||rs134627||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29084036G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-10222G>T|||||||rs134627||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29084036G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-10222G>T|||||||rs134627||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29084036G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-10222G>T|||||||rs134627||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29084036G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-10222G>T|||||||rs134627||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29084036G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-10222G>T|||||||rs134627||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29084036G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-10222G>T|||||||rs134627||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29084036G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-10222G>T|||||||rs134627||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29084036G>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7QSR|enhancer||||||||||rs134627|||||||||||||||||||||chr22:g.29084036G>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|32|-11|41|-40;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2,ENSR22_B7QSR;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74925;gnomADv4_1_AC_joint_XX=39165;gnomADv4_1_AC_joint_XY=35760;gnomADv4_1_AF_grpmax_joint=0.632653;gnomADv4_1_AF_joint=0.493987;gnomADv4_1_AF_joint_XX=0.505264;gnomADv4_1_AF_joint_XY=0.482201;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151674;gnomADv4_1_AN_joint_XX=77514;gnomADv4_1_AN_joint_XY=74160;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19270;gnomADv4_1_nhomalt_joint_XX=10283;gnomADv4_1_nhomalt_joint_XY=8987;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29084329 chr22_29084329_T_TG T TG 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=1.248;CADDIndel_Rawscore=0.0399;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-9926dup|||||||rs134628||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|3|chr22:g.29084332dup|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-9926dup|||||||rs134628||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|3|chr22:g.29084332dup|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-9926dup|||||||rs134628||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|3|chr22:g.29084332dup|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-9926dup|||||||rs134628||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||3|chr22:g.29084332dup|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-9926dup|||||||rs134628||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||3|chr22:g.29084332dup|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-9926dup|||||||rs134628||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||3|chr22:g.29084332dup|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-9926dup|||||||rs134628||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||3|chr22:g.29084332dup|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-9926dup|||||||rs134628||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||3|chr22:g.29084332dup|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7QSR|enhancer||||||||||rs134628|||||||||||||||||||||chr22:g.29084332dup|||||||||||||;SpliceAI=TG|KREMEN1|0.00|0.00|0.00|0.00|-49|18|-21|17;TYPE=INDEL;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2,ENSR22_B7QSR;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=113655;gnomADv4_1_AC_joint_XX=58264;gnomADv4_1_AC_joint_XY=55391;gnomADv4_1_AF_grpmax_joint=0.879916;gnomADv4_1_AF_joint=0.747966;gnomADv4_1_AF_joint_XX=0.749994;gnomADv4_1_AF_joint_XY=0.745846;gnomADv4_1_AN_grpmax_joint=41446;gnomADv4_1_AN_joint=151952;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=43236;gnomADv4_1_nhomalt_joint_XX=22195;gnomADv4_1_nhomalt_joint_XY=21041;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29084412 chr22_29084412_T_A T A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.044;CADD_Rawscore=-0.837646;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-9846T>A|||||||rs134629||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29084412T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-9846T>A|||||||rs134629||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29084412T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-9846T>A|||||||rs134629||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29084412T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-9846T>A|||||||rs134629||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29084412T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-9846T>A|||||||rs134629||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29084412T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-9846T>A|||||||rs134629||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29084412T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-9846T>A|||||||rs134629||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29084412T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-9846T>A|||||||rs134629||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29084412T>A|||1||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7QSR|enhancer||||||||||rs134629|||||||||||||||||||||chr22:g.29084412T>A|||1||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|-31|17|17|24;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2,ENSR22_B7QSR;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97237;gnomADv4_1_AC_joint_XX=49909;gnomADv4_1_AC_joint_XY=47328;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.639995;gnomADv4_1_AF_joint_XX=0.642511;gnomADv4_1_AF_joint_XY=0.637363;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151934;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31329;gnomADv4_1_nhomalt_joint_XX=16096;gnomADv4_1_nhomalt_joint_XY=15233;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29084754 chr22_29084754_A_G A G 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.232;CADD_Rawscore=0.193083;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-9504A>G|||||||rs134630||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29084754A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-9504A>G|||||||rs134630||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29084754A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-9504A>G|||||||rs134630||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29084754A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-9504A>G|||||||rs134630||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29084754A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-9504A>G|||||||rs134630||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29084754A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-9504A>G|||||||rs134630||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29084754A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-9504A>G|||||||rs134630||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29084754A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-9504A>G|||||||rs134630||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29084754A>G|||1||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|42|-19|-1|-19;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97345;gnomADv4_1_AC_joint_XX=49952;gnomADv4_1_AC_joint_XY=47393;gnomADv4_1_AF_grpmax_joint=0.782313;gnomADv4_1_AF_joint=0.639889;gnomADv4_1_AF_joint_XX=0.642436;gnomADv4_1_AF_joint_XY=0.637225;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152128;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31365;gnomADv4_1_nhomalt_joint_XX=16113;gnomADv4_1_nhomalt_joint_XY=15252;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29084917 chr22_29084917_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.784;CADD_Rawscore=-0.080087;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-9341A>G|||||||rs5762980||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29084917A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-9341A>G|||||||rs5762980||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29084917A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-9341A>G|||||||rs5762980||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29084917A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-9341A>G|||||||rs5762980||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29084917A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-9341A>G|||||||rs5762980||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29084917A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-9341A>G|||||||rs5762980||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29084917A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-9341A>G|||||||rs5762980||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29084917A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-9341A>G|||||||rs5762980||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29084917A>G|||1||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-6|2|30|-7;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98562;gnomADv4_1_AC_joint_XX=50613;gnomADv4_1_AC_joint_XY=47949;gnomADv4_1_AF_grpmax_joint=0.784247;gnomADv4_1_AF_joint=0.648374;gnomADv4_1_AF_joint_XX=0.651189;gnomADv4_1_AF_joint_XY=0.64543;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=32187;gnomADv4_1_nhomalt_joint_XX=16560;gnomADv4_1_nhomalt_joint_XY=15627;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29084958 chr22_29084958_A_G A G 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=4.89;CADD_Rawscore=0.445569;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-9300A>G|||||||rs134631||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29084958A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-9300A>G|||||||rs134631||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29084958A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-9300A>G|||||||rs134631||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29084958A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-9300A>G|||||||rs134631||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29084958A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-9300A>G|||||||rs134631||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29084958A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-9300A>G|||||||rs134631||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29084958A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-9300A>G|||||||rs134631||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29084958A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-9300A>G|||||||rs134631||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29084958A>G|||1||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|1|-47|44|-11;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=112779;gnomADv4_1_AC_joint_XX=57796;gnomADv4_1_AC_joint_XY=54983;gnomADv4_1_AF_grpmax_joint=0.856826;gnomADv4_1_AF_joint=0.741343;gnomADv4_1_AF_joint_XX=0.743089;gnomADv4_1_AF_joint_XY=0.739516;gnomADv4_1_AN_grpmax_joint=41544;gnomADv4_1_AN_joint=152128;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=42391;gnomADv4_1_nhomalt_joint_XX=21747;gnomADv4_1_nhomalt_joint_XY=20644;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29085890 chr22_29085890_G_A G A 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=8.465;CADD_Rawscore=0.818956;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-8368G>A|||||||rs134632||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29085890G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-8368G>A|||||||rs134632||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29085890G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-8368G>A|||||||rs134632||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29085890G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-8368G>A|||||||rs134632||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29085890G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-8368G>A|||||||rs134632||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29085890G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-8368G>A|||||||rs134632||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29085890G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-8368G>A|||||||rs134632||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29085890G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-8368G>A|||||||rs134632||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29085890G>A|||1||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|3|-38|10|22;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96350;gnomADv4_1_AC_joint_XX=49510;gnomADv4_1_AC_joint_XY=46840;gnomADv4_1_AF_grpmax_joint=0.765306;gnomADv4_1_AF_joint=0.636091;gnomADv4_1_AF_joint_XX=0.638608;gnomADv4_1_AF_joint_XY=0.633452;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151472;gnomADv4_1_AN_joint_XX=77528;gnomADv4_1_AN_joint_XY=73944;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=30844;gnomADv4_1_nhomalt_joint_XX=15858;gnomADv4_1_nhomalt_joint_XY=14986;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29085970 chr22_29085970_C_CA C CA 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.175;CADDIndel_Rawscore=-0.461392;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-8277dup|||||||rs134633||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|11|chr22:g.29085981dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-8277dup|||||||rs134633||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|11|chr22:g.29085981dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-8277dup|||||||rs134633||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|11|chr22:g.29085981dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-8277dup|||||||rs134633||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||11|chr22:g.29085981dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-8277dup|||||||rs134633||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||11|chr22:g.29085981dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-8277dup|||||||rs134633||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||11|chr22:g.29085981dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-8277dup|||||||rs134633||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||11|chr22:g.29085981dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-8277dup|||||||rs134633||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||11|chr22:g.29085981dup|||||||||||||;SpliceAI=CA|KREMEN1|0.00|0.00|0.00|0.00|13|-27|50|11;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70540;gnomADv4_1_AC_joint_XX=37437;gnomADv4_1_AC_joint_XY=33103;gnomADv4_1_AF_grpmax_joint=0.630597;gnomADv4_1_AF_joint=0.501151;gnomADv4_1_AF_joint_XX=0.51142;gnomADv4_1_AF_joint_XY=0.490023;gnomADv4_1_AN_grpmax_joint=268;gnomADv4_1_AN_joint=140756;gnomADv4_1_AN_joint_XX=73202;gnomADv4_1_AN_joint_XY=67554;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=18123;gnomADv4_1_nhomalt_joint_XX=9819;gnomADv4_1_nhomalt_joint_XY=8304;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29086026 chr22_29086026_G_GTT G GTT 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=3.337;CADDIndel_Rawscore=0.305946;CSQ=TT|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-8219_98-8218dup|||||||rs10696373||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|14|chr22:g.29086039_29086040dup|||1||||||||||,TT|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-8219_98-8218dup|||||||rs10696373||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|14|chr22:g.29086039_29086040dup|||1||||||||||,TT|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-8219_92-8218dup|||||||rs10696373||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|14|chr22:g.29086039_29086040dup|||1||||||||||,TT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-8219_98-8218dup|||||||rs10696373||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||14|chr22:g.29086039_29086040dup|||1||||||||||,TT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-8219_98-8218dup|||||||rs10696373||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||14|chr22:g.29086039_29086040dup|||1||||||||||,TT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-8219_98-8218dup|||||||rs10696373||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||14|chr22:g.29086039_29086040dup|||1||||||||||,TT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-8219_98-8218dup|||||||rs10696373||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||14|chr22:g.29086039_29086040dup|||1||||||||||,TT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-8219_98-8218dup|||||||rs10696373||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||14|chr22:g.29086039_29086040dup|||1||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87595;gnomADv4_1_AC_joint_XX=45792;gnomADv4_1_AC_joint_XY=41803;gnomADv4_1_AF_grpmax_joint=0.738971;gnomADv4_1_AF_joint=0.615973;gnomADv4_1_AF_joint_XX=0.620959;gnomADv4_1_AF_joint_XY=0.610602;gnomADv4_1_AN_grpmax_joint=272;gnomADv4_1_AN_joint=142206;gnomADv4_1_AN_joint_XX=73744;gnomADv4_1_AN_joint_XY=68462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=27043;gnomADv4_1_nhomalt_joint_XX=14204;gnomADv4_1_nhomalt_joint_XY=12839;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29086167 chr22_29086167_T_G T G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.549;CADD_Rawscore=0.096508;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-8091T>G|||||||rs134635||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29086167T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-8091T>G|||||||rs134635||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29086167T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-8091T>G|||||||rs134635||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29086167T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-8091T>G|||||||rs134635||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29086167T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-8091T>G|||||||rs134635||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29086167T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-8091T>G|||||||rs134635||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29086167T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-8091T>G|||||||rs134635||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29086167T>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-8091T>G|||||||rs134635||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29086167T>G|||1||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|1|5|-1|5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96552;gnomADv4_1_AC_joint_XX=49580;gnomADv4_1_AC_joint_XY=46972;gnomADv4_1_AF_grpmax_joint=0.765306;gnomADv4_1_AF_joint=0.635947;gnomADv4_1_AF_joint_XX=0.638638;gnomADv4_1_AF_joint_XY=0.633131;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151824;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74190;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=30900;gnomADv4_1_nhomalt_joint_XX=15877;gnomADv4_1_nhomalt_joint_XY=15023;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29086233 chr22_29086233_T_C T C 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.247;CADD_Rawscore=-0.372148;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-8025T>C|||||||rs134636||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29086233T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-8025T>C|||||||rs134636||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29086233T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-8025T>C|||||||rs134636||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29086233T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-8025T>C|||||||rs134636||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29086233T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-8025T>C|||||||rs134636||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29086233T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-8025T>C|||||||rs134636||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29086233T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-8025T>C|||||||rs134636||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29086233T>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-8025T>C|||||||rs134636||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29086233T>C|||1||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-4|16|-16|16;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=112649;gnomADv4_1_AC_joint_XX=57747;gnomADv4_1_AC_joint_XY=54902;gnomADv4_1_AF_grpmax_joint=0.856843;gnomADv4_1_AF_joint=0.741444;gnomADv4_1_AF_joint_XX=0.743109;gnomADv4_1_AF_joint_XY=0.7397;gnomADv4_1_AN_grpmax_joint=41458;gnomADv4_1_AN_joint=151932;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=42346;gnomADv4_1_nhomalt_joint_XX=21727;gnomADv4_1_nhomalt_joint_XY=20619;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29086688 chr22_29086688_C_T C T 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.738;CADD_Rawscore=-0.095492;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-7570C>T|||||||rs134637||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29086688C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-7570C>T|||||||rs134637||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29086688C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-7570C>T|||||||rs134637||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29086688C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-7570C>T|||||||rs134637||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29086688C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-7570C>T|||||||rs134637||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29086688C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-7570C>T|||||||rs134637||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29086688C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-7570C>T|||||||rs134637||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29086688C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-7570C>T|||||||rs134637||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29086688C>T|||1||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|19|26|-25|26;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97963;gnomADv4_1_AC_joint_XX=50311;gnomADv4_1_AC_joint_XY=47652;gnomADv4_1_AF_grpmax_joint=0.765306;gnomADv4_1_AF_joint=0.644163;gnomADv4_1_AF_joint_XX=0.646987;gnomADv4_1_AF_joint_XY=0.641208;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31754;gnomADv4_1_nhomalt_joint_XX=16319;gnomADv4_1_nhomalt_joint_XY=15435;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29086737 chr22_29086737_G_A G A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.51;CADD_Rawscore=-0.187971;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-7521G>A|||||||rs134638||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29086737G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-7521G>A|||||||rs134638||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29086737G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-7521G>A|||||||rs134638||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29086737G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-7521G>A|||||||rs134638||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29086737G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-7521G>A|||||||rs134638||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29086737G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-7521G>A|||||||rs134638||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29086737G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-7521G>A|||||||rs134638||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29086737G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-7521G>A|||||||rs134638||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29086737G>A|||1||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|43|0|-23|-14;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97865;gnomADv4_1_AC_joint_XX=50250;gnomADv4_1_AC_joint_XY=47615;gnomADv4_1_AF_grpmax_joint=0.765306;gnomADv4_1_AF_joint=0.644179;gnomADv4_1_AF_joint_XX=0.646868;gnomADv4_1_AF_joint_XY=0.641366;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151922;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31717;gnomADv4_1_nhomalt_joint_XX=16300;gnomADv4_1_nhomalt_joint_XY=15417;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29087072 chr22_29087072_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.716;CADD_Rawscore=0.123444;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-7186A>G|||||||rs134639||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29087072A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-7186A>G|||||||rs134639||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29087072A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-7186A>G|||||||rs134639||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29087072A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-7186A>G|||||||rs134639||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29087072A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-7186A>G|||||||rs134639||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29087072A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-7186A>G|||||||rs134639||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29087072A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-7186A>G|||||||rs134639||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29087072A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-7186A>G|||||||rs134639||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29087072A>G|||1||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|1|2|0|-32;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96694;gnomADv4_1_AC_joint_XX=49647;gnomADv4_1_AC_joint_XY=47047;gnomADv4_1_AF_grpmax_joint=0.767123;gnomADv4_1_AF_joint=0.636195;gnomADv4_1_AF_joint_XX=0.638694;gnomADv4_1_AF_joint_XY=0.633578;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151988;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=30960;gnomADv4_1_nhomalt_joint_XX=15901;gnomADv4_1_nhomalt_joint_XY=15059;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29087570 chr22_29087570_GT_G GT G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=4.417;CADDIndel_Rawscore=0.402406;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-6675del|||||||rs134640||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1|12|chr22:g.29087583del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-6675del|||||||rs134640||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1|12|chr22:g.29087583del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-6675del|||||||rs134640||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1|12|chr22:g.29087583del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-6675del|||||||rs134640||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T|||12|chr22:g.29087583del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-6675del|||||||rs134640||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T|||12|chr22:g.29087583del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-6675del|||||||rs134640||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T|||12|chr22:g.29087583del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-6675del|||||||rs134640||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T|||12|chr22:g.29087583del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-6675del|||||||rs134640||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T|||12|chr22:g.29087583del|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|2|41|2|41;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72890;gnomADv4_1_AC_joint_XX=38273;gnomADv4_1_AC_joint_XY=34617;gnomADv4_1_AF_grpmax_joint=0.611888;gnomADv4_1_AF_joint=0.491418;gnomADv4_1_AF_joint_XX=0.502415;gnomADv4_1_AF_joint_XY=0.479805;gnomADv4_1_AN_grpmax_joint=286;gnomADv4_1_AN_joint=148326;gnomADv4_1_AN_joint_XX=76178;gnomADv4_1_AN_joint_XY=72148;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=18283;gnomADv4_1_nhomalt_joint_XX=9827;gnomADv4_1_nhomalt_joint_XY=8456;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29087595 chr22_29087595_A_G A G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.028;CADD_Rawscore=-0.958214;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-6663A>G|||||||rs134641||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29087595A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-6663A>G|||||||rs134641||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29087595A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-6663A>G|||||||rs134641||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29087595A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-6663A>G|||||||rs134641||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29087595A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-6663A>G|||||||rs134641||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29087595A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-6663A>G|||||||rs134641||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29087595A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-6663A>G|||||||rs134641||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29087595A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-6663A>G|||||||rs134641||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29087595A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-24|16|-31|29;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=117421;gnomADv4_1_AC_joint_XX=60338;gnomADv4_1_AC_joint_XY=57083;gnomADv4_1_AF_grpmax_joint=0.935873;gnomADv4_1_AF_joint=0.775476;gnomADv4_1_AF_joint_XX=0.778635;gnomADv4_1_AF_joint_XY=0.772164;gnomADv4_1_AN_grpmax_joint=41402;gnomADv4_1_AN_joint=151418;gnomADv4_1_AN_joint_XX=77492;gnomADv4_1_AN_joint_XY=73926;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=46395;gnomADv4_1_nhomalt_joint_XX=23914;gnomADv4_1_nhomalt_joint_XY=22481;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29087727 chr22_29087727_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.197;CADD_Rawscore=0.028981;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-6531G>A|||||||rs134642||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29087727G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-6531G>A|||||||rs134642||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29087727G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-6531G>A|||||||rs134642||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29087727G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-6531G>A|||||||rs134642||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29087727G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-6531G>A|||||||rs134642||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29087727G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-6531G>A|||||||rs134642||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29087727G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-6531G>A|||||||rs134642||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29087727G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-6531G>A|||||||rs134642||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29087727G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|20|6|-4|48;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74749;gnomADv4_1_AC_joint_XX=39093;gnomADv4_1_AC_joint_XY=35656;gnomADv4_1_AF_grpmax_joint=0.612245;gnomADv4_1_AF_joint=0.491873;gnomADv4_1_AF_joint_XX=0.503166;gnomADv4_1_AF_joint_XY=0.48006;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151968;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19134;gnomADv4_1_nhomalt_joint_XX=10208;gnomADv4_1_nhomalt_joint_XY=8926;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29087792 chr22_29087792_C_T C T 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.283;CADD_Rawscore=-0.337244;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-6466C>T|||||||rs2049937||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29087792C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-6466C>T|||||||rs2049937||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29087792C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-6466C>T|||||||rs2049937||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29087792C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-6466C>T|||||||rs2049937||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29087792C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-6466C>T|||||||rs2049937||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29087792C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-6466C>T|||||||rs2049937||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29087792C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-6466C>T|||||||rs2049937||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29087792C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-6466C>T|||||||rs2049937||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29087792C>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|-17|8|-17|8;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74755;gnomADv4_1_AC_joint_XX=39087;gnomADv4_1_AC_joint_XY=35668;gnomADv4_1_AF_grpmax_joint=0.612245;gnomADv4_1_AF_joint=0.491803;gnomADv4_1_AF_joint_XX=0.50305;gnomADv4_1_AF_joint_XY=0.480041;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152002;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19137;gnomADv4_1_nhomalt_joint_XX=10204;gnomADv4_1_nhomalt_joint_XY=8933;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29087885 chr22_29087885_G_T G T 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=11.57;CADD_Rawscore=1.12232;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-6373G>T|||||||rs2049938||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29087885G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-6373G>T|||||||rs2049938||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29087885G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-6373G>T|||||||rs2049938||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29087885G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-6373G>T|||||||rs2049938||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29087885G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-6373G>T|||||||rs2049938||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29087885G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-6373G>T|||||||rs2049938||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29087885G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-6373G>T|||||||rs2049938||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29087885G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-6373G>T|||||||rs2049938||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29087885G>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|-2|1|-19|46;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74776;gnomADv4_1_AC_joint_XX=39092;gnomADv4_1_AC_joint_XY=35684;gnomADv4_1_AF_grpmax_joint=0.615646;gnomADv4_1_AF_joint=0.491676;gnomADv4_1_AF_joint_XX=0.502946;gnomADv4_1_AF_joint_XY=0.479895;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19138;gnomADv4_1_nhomalt_joint_XX=10205;gnomADv4_1_nhomalt_joint_XY=8933;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29087932 chr22_29087932_G_C G C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.494;CADD_Rawscore=-0.195982;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-6326G>C|||||||rs2049939||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29087932G>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-6326G>C|||||||rs2049939||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29087932G>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-6326G>C|||||||rs2049939||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29087932G>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-6326G>C|||||||rs2049939||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29087932G>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-6326G>C|||||||rs2049939||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29087932G>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-6326G>C|||||||rs2049939||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29087932G>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-6326G>C|||||||rs2049939||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29087932G>C|||1||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-6326G>C|||||||rs2049939||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29087932G>C|||1||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|31|-1|-46|-1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96907;gnomADv4_1_AC_joint_XX=49724;gnomADv4_1_AC_joint_XY=47183;gnomADv4_1_AF_grpmax_joint=0.765306;gnomADv4_1_AF_joint=0.637144;gnomADv4_1_AF_joint_XX=0.639603;gnomADv4_1_AF_joint_XY=0.634572;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31068;gnomADv4_1_nhomalt_joint_XX=15945;gnomADv4_1_nhomalt_joint_XY=15123;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29088327 chr22_29088327_A_ACACACG;chr22_29088327_A_ACG A ACACACG 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.586;CADDIndel_Rawscore=-0.153398;CSQ=CACACG|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-5928_98-5927insACGCAC|||||||rs35603207||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|3|chr22:g.29088330_29088331insACGCAC|||||||||||||,CACACG|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-5928_98-5927insACGCAC|||||||rs35603207||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|3|chr22:g.29088330_29088331insACGCAC|||||||||||||,CACACG|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-5928_92-5927insACGCAC|||||||rs35603207||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|3|chr22:g.29088330_29088331insACGCAC|||||||||||||,CACACG|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-5928_98-5927insACGCAC|||||||rs35603207||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||3|chr22:g.29088330_29088331insACGCAC|||||||||||||,CACACG|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-5928_98-5927insACGCAC|||||||rs35603207||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||3|chr22:g.29088330_29088331insACGCAC|||||||||||||,CACACG|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-5928_98-5927insACGCAC|||||||rs35603207||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||3|chr22:g.29088330_29088331insACGCAC|||||||||||||,CACACG|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-5928_98-5927insACGCAC|||||||rs35603207||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||3|chr22:g.29088330_29088331insACGCAC|||||||||||||,CACACG|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-5928_98-5927insACGCAC|||||||rs35603207||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||3|chr22:g.29088330_29088331insACGCAC|||||||||||||;TYPE=INDEL;VEP_Allele=CACACG,CACACG,CACACG,CACACG,CACACG,CACACG,CACACG,CACACG;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39886;gnomADv4_1_AC_joint_XX=21165;gnomADv4_1_AC_joint_XY=18721;gnomADv4_1_AF_grpmax_joint=0.43007;gnomADv4_1_AF_joint=0.265514;gnomADv4_1_AF_joint_XX=0.275149;gnomADv4_1_AF_joint_XY=0.255402;gnomADv4_1_AN_grpmax_joint=286;gnomADv4_1_AN_joint=150222;gnomADv4_1_AN_joint_XX=76922;gnomADv4_1_AN_joint_XY=73300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6708;gnomADv4_1_nhomalt_joint_XX=3726;gnomADv4_1_nhomalt_joint_XY=2982;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29088327 chr22_29088327_A_ACACACG;chr22_29088327_A_ACG A ACG 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.619;CADDIndel_Rawscore=-0.139619;CSQ=CG|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-5930_98-5929insGC|||||||rs1556002411||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|1|chr22:g.29088328_29088329insGC|||||||||||||,CG|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-5930_98-5929insGC|||||||rs1556002411||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|1|chr22:g.29088328_29088329insGC|||||||||||||,CG|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-5930_92-5929insGC|||||||rs1556002411||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|1|chr22:g.29088328_29088329insGC|||||||||||||,CG|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-5930_98-5929insGC|||||||rs1556002411||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||1|chr22:g.29088328_29088329insGC|||||||||||||,CG|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-5930_98-5929insGC|||||||rs1556002411||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||1|chr22:g.29088328_29088329insGC|||||||||||||,CG|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-5930_98-5929insGC|||||||rs1556002411||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||1|chr22:g.29088328_29088329insGC|||||||||||||,CG|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-5930_98-5929insGC|||||||rs1556002411||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||1|chr22:g.29088328_29088329insGC|||||||||||||,CG|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-5930_98-5929insGC|||||||rs1556002411||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||1|chr22:g.29088328_29088329insGC|||||||||||||;TYPE=INDEL;VEP_Allele=CG,CG,CG,CG,CG,CG,CG,CG;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24595;gnomADv4_1_AC_joint_XX=12652;gnomADv4_1_AC_joint_XY=11943;gnomADv4_1_AF_grpmax_joint=0.354076;gnomADv4_1_AF_joint=0.163583;gnomADv4_1_AF_joint_XX=0.164329;gnomADv4_1_AF_joint_XY=0.1628;gnomADv4_1_AN_grpmax_joint=40898;gnomADv4_1_AN_joint=150352;gnomADv4_1_AN_joint_XX=76992;gnomADv4_1_AN_joint_XY=73360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3059;gnomADv4_1_nhomalt_joint_XX=1606;gnomADv4_1_nhomalt_joint_XY=1453;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29088360 chr22_29088360_G_A G A 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=2.347;CADD_Rawscore=0.206645;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-5898G>A|||||||rs5752864||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29088360G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-5898G>A|||||||rs5752864||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29088360G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-5898G>A|||||||rs5752864||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29088360G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-5898G>A|||||||rs5752864||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29088360G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-5898G>A|||||||rs5752864||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29088360G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-5898G>A|||||||rs5752864||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29088360G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-5898G>A|||||||rs5752864||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29088360G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-5898G>A|||||||rs5752864||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29088360G>A|||1||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|14|1|-7|14;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=110898;gnomADv4_1_AC_joint_XX=56776;gnomADv4_1_AC_joint_XY=54122;gnomADv4_1_AF_grpmax_joint=0.836735;gnomADv4_1_AF_joint=0.730342;gnomADv4_1_AF_joint_XX=0.731386;gnomADv4_1_AF_joint_XY=0.72925;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151844;gnomADv4_1_AN_joint_XX=77628;gnomADv4_1_AN_joint_XY=74216;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=40905;gnomADv4_1_nhomalt_joint_XX=20930;gnomADv4_1_nhomalt_joint_XY=19975;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29088437 chr22_29088437_G_T G T 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.944;CADD_Rawscore=-0.03276;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-5821G>T|||||||rs134644||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29088437G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-5821G>T|||||||rs134644||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29088437G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-5821G>T|||||||rs134644||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29088437G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-5821G>T|||||||rs134644||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29088437G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-5821G>T|||||||rs134644||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29088437G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-5821G>T|||||||rs134644||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29088437G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-5821G>T|||||||rs134644||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29088437G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-5821G>T|||||||rs134644||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29088437G>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|11|-13|-14|-13;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=117724;gnomADv4_1_AC_joint_XX=60434;gnomADv4_1_AC_joint_XY=57290;gnomADv4_1_AF_grpmax_joint=0.935879;gnomADv4_1_AF_joint=0.774429;gnomADv4_1_AF_joint_XX=0.777546;gnomADv4_1_AF_joint_XY=0.771167;gnomADv4_1_AN_grpmax_joint=41484;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=46535;gnomADv4_1_nhomalt_joint_XX=23960;gnomADv4_1_nhomalt_joint_XY=22575;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29088622 chr22_29088622_A_G A G 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.344;CADD_Rawscore=-0.287194;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-5636A>G|||||||rs134645||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29088622A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-5636A>G|||||||rs134645||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29088622A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-5636A>G|||||||rs134645||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29088622A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-5636A>G|||||||rs134645||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29088622A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-5636A>G|||||||rs134645||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29088622A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-5636A>G|||||||rs134645||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29088622A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-5636A>G|||||||rs134645||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29088622A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-5636A>G|||||||rs134645||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29088622A>G|||1||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|4|28|21|12;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96844;gnomADv4_1_AC_joint_XX=49672;gnomADv4_1_AC_joint_XY=47172;gnomADv4_1_AF_grpmax_joint=0.765306;gnomADv4_1_AF_joint=0.636939;gnomADv4_1_AF_joint_XX=0.639329;gnomADv4_1_AF_joint_XY=0.634442;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=31041;gnomADv4_1_nhomalt_joint_XX=15922;gnomADv4_1_nhomalt_joint_XY=15119;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29088841 chr22_29088841_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.261;CADD_Rawscore=0.298959;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-5417G>A|||||||rs134646||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29088841G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-5417G>A|||||||rs134646||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29088841G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-5417G>A|||||||rs134646||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29088841G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-5417G>A|||||||rs134646||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29088841G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-5417G>A|||||||rs134646||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29088841G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-5417G>A|||||||rs134646||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29088841G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-5417G>A|||||||rs134646||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29088841G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-5417G>A|||||||rs134646||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29088841G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|3|-19|3|8;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74730;gnomADv4_1_AC_joint_XX=39080;gnomADv4_1_AC_joint_XY=35650;gnomADv4_1_AF_grpmax_joint=0.615646;gnomADv4_1_AF_joint=0.491548;gnomADv4_1_AF_joint_XX=0.502831;gnomADv4_1_AF_joint_XY=0.479747;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152030;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19125;gnomADv4_1_nhomalt_joint_XX=10201;gnomADv4_1_nhomalt_joint_XY=8924;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29088857 chr22_29088857_C_T C T 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=3.797;CADD_Rawscore=0.347256;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-5401C>T|||||||rs134647||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29088857C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-5401C>T|||||||rs134647||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29088857C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-5401C>T|||||||rs134647||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29088857C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-5401C>T|||||||rs134647||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29088857C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-5401C>T|||||||rs134647||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29088857C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-5401C>T|||||||rs134647||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29088857C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-5401C>T|||||||rs134647||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29088857C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-5401C>T|||||||rs134647||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29088857C>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|-2|-35|-13|-8;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74756;gnomADv4_1_AC_joint_XX=39094;gnomADv4_1_AC_joint_XY=35662;gnomADv4_1_AF_grpmax_joint=0.615646;gnomADv4_1_AF_joint=0.491596;gnomADv4_1_AF_joint_XX=0.50292;gnomADv4_1_AF_joint_XY=0.479754;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19131;gnomADv4_1_nhomalt_joint_XX=10203;gnomADv4_1_nhomalt_joint_XY=8928;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29089317 chr22_29089317_CA_C CA C 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.862;CADDIndel_Rawscore=-0.05614;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-4940del|||||||rs134648||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29089318del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-4940del|||||||rs134648||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29089318del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-4940del|||||||rs134648||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29089318del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-4940del|||||||rs134648||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29089318del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-4940del|||||||rs134648||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29089318del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-4940del|||||||rs134648||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29089318del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-4940del|||||||rs134648||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29089318del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-4940del|||||||rs134648||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29089318del|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|15|-17|-12|-19;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74604;gnomADv4_1_AC_joint_XX=39013;gnomADv4_1_AC_joint_XY=35591;gnomADv4_1_AF_grpmax_joint=0.613014;gnomADv4_1_AF_joint=0.491061;gnomADv4_1_AF_joint_XX=0.502343;gnomADv4_1_AF_joint_XY=0.479263;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151924;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19059;gnomADv4_1_nhomalt_joint_XX=10168;gnomADv4_1_nhomalt_joint_XY=8891;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29089540 chr22_29089540_G_T G T 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.344;CADD_Rawscore=-0.287584;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-4718G>T|||||||rs134649||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29089540G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-4718G>T|||||||rs134649||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29089540G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-4718G>T|||||||rs134649||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29089540G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-4718G>T|||||||rs134649||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29089540G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-4718G>T|||||||rs134649||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29089540G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-4718G>T|||||||rs134649||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29089540G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-4718G>T|||||||rs134649||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29089540G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-4718G>T|||||||rs134649||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29089540G>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|27|-9|-38|46;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74716;gnomADv4_1_AC_joint_XX=39090;gnomADv4_1_AC_joint_XY=35626;gnomADv4_1_AF_grpmax_joint=0.613014;gnomADv4_1_AF_joint=0.491611;gnomADv4_1_AF_joint_XX=0.502933;gnomADv4_1_AF_joint_XY=0.47976;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151982;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19123;gnomADv4_1_nhomalt_joint_XX=10203;gnomADv4_1_nhomalt_joint_XY=8920;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29089605 chr22_29089605_T_TAAATAA T TAAATAA 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.929;CADDIndel_Rawscore=-0.036727;CSQ=AAATAA|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-4651_98-4646dup|||||||rs134650||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|7|chr22:g.29089607_29089612dup|||||||||||||,AAATAA|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-4651_98-4646dup|||||||rs134650||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|7|chr22:g.29089607_29089612dup|||||||||||||,AAATAA|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-4651_92-4646dup|||||||rs134650||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|7|chr22:g.29089607_29089612dup|||||||||||||,AAATAA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-4651_98-4646dup|||||||rs134650||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||7|chr22:g.29089607_29089612dup|||||||||||||,AAATAA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-4651_98-4646dup|||||||rs134650||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||7|chr22:g.29089607_29089612dup|||||||||||||,AAATAA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-4651_98-4646dup|||||||rs134650||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||7|chr22:g.29089607_29089612dup|||||||||||||,AAATAA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-4651_98-4646dup|||||||rs134650||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||7|chr22:g.29089607_29089612dup|||||||||||||,AAATAA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-4651_98-4646dup|||||||rs134650||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||7|chr22:g.29089607_29089612dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAATAA,AAATAA,AAATAA,AAATAA,AAATAA,AAATAA,AAATAA,AAATAA;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=76853;gnomADv4_1_AC_joint_XX=40211;gnomADv4_1_AC_joint_XY=36642;gnomADv4_1_AF_grpmax_joint=0.618056;gnomADv4_1_AF_joint=0.507321;gnomADv4_1_AF_joint_XX=0.518919;gnomADv4_1_AF_joint_XY=0.495176;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=151488;gnomADv4_1_AN_joint_XX=77490;gnomADv4_1_AN_joint_XY=73998;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=20174;gnomADv4_1_nhomalt_joint_XX=10778;gnomADv4_1_nhomalt_joint_XY=9396;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29089720 chr22_29089720_G_A G A 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.711;CADD_Rawscore=-0.104978;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-4538G>A|||||||rs134651||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29089720G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-4538G>A|||||||rs134651||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29089720G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-4538G>A|||||||rs134651||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29089720G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-4538G>A|||||||rs134651||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29089720G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-4538G>A|||||||rs134651||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29089720G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-4538G>A|||||||rs134651||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29089720G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-4538G>A|||||||rs134651||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29089720G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-4538G>A|||||||rs134651||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29089720G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|2|-45|-3|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74800;gnomADv4_1_AC_joint_XX=39103;gnomADv4_1_AC_joint_XY=35697;gnomADv4_1_AF_grpmax_joint=0.615646;gnomADv4_1_AF_joint=0.492034;gnomADv4_1_AF_joint_XX=0.503204;gnomADv4_1_AF_joint_XY=0.480354;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19150;gnomADv4_1_nhomalt_joint_XX=10211;gnomADv4_1_nhomalt_joint_XY=8939;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29089806 chr22_29089806_G_A G A 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.782;CADD_Rawscore=-0.080814;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-4452G>A|||||||rs713861||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29089806G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-4452G>A|||||||rs713861||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29089806G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-4452G>A|||||||rs713861||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29089806G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-4452G>A|||||||rs713861||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29089806G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-4452G>A|||||||rs713861||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29089806G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-4452G>A|||||||rs713861||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29089806G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-4452G>A|||||||rs713861||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29089806G>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-4452G>A|||||||rs713861||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29089806G>A|||1||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|18|-42|-11|46;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111022;gnomADv4_1_AC_joint_XX=56837;gnomADv4_1_AC_joint_XY=54185;gnomADv4_1_AF_grpmax_joint=0.836735;gnomADv4_1_AF_joint=0.730273;gnomADv4_1_AF_joint_XX=0.731305;gnomADv4_1_AF_joint_XY=0.729195;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=40944;gnomADv4_1_nhomalt_joint_XX=20947;gnomADv4_1_nhomalt_joint_XY=19997;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29090492 chr22_29090492_A_G A G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=2.309;CADD_Rawscore=0.202271;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-3766A>G|||||||rs134652||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29090492A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-3766A>G|||||||rs134652||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29090492A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-3766A>G|||||||rs134652||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29090492A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-3766A>G|||||||rs134652||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29090492A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-3766A>G|||||||rs134652||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29090492A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-3766A>G|||||||rs134652||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29090492A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-3766A>G|||||||rs134652||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29090492A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-3766A>G|||||||rs134652||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29090492A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|1|8|9|-3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71850;gnomADv4_1_AC_joint_XX=37548;gnomADv4_1_AC_joint_XY=34302;gnomADv4_1_AF_grpmax_joint=0.612245;gnomADv4_1_AF_joint=0.472915;gnomADv4_1_AF_joint_XX=0.48343;gnomADv4_1_AF_joint_XY=0.461918;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151930;gnomADv4_1_AN_joint_XX=77670;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=17784;gnomADv4_1_nhomalt_joint_XX=9494;gnomADv4_1_nhomalt_joint_XY=8290;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29090791 chr22_29090791_T_A T A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.378;CADD_Rawscore=0.065753;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-3467T>A|||||||rs134653||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29090791T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-3467T>A|||||||rs134653||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29090791T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-3467T>A|||||||rs134653||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29090791T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-3467T>A|||||||rs134653||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29090791T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-3467T>A|||||||rs134653||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29090791T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-3467T>A|||||||rs134653||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29090791T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-3467T>A|||||||rs134653||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29090791T>A|||1||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-3467T>A|||||||rs134653||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29090791T>A|||1||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|2|13|-5|-34;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=108593;gnomADv4_1_AC_joint_XX=55574;gnomADv4_1_AC_joint_XY=53019;gnomADv4_1_AF_grpmax_joint=0.819728;gnomADv4_1_AF_joint=0.714465;gnomADv4_1_AF_joint_XX=0.715109;gnomADv4_1_AF_joint_XY=0.713791;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=39051;gnomADv4_1_nhomalt_joint_XX=19976;gnomADv4_1_nhomalt_joint_XY=19075;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29090972 chr22_29090972_T_TTTTA T TTTTA 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=2.685;CADDIndel_Rawscore=0.243254;CSQ=TTTA|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-3271_98-3268dup|||||||rs134654||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|18|chr22:g.29090987_29090990dup|||||||||||||,TTTA|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-3271_98-3268dup|||||||rs134654||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|18|chr22:g.29090987_29090990dup|||||||||||||,TTTA|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-3271_92-3268dup|||||||rs134654||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|18|chr22:g.29090987_29090990dup|||||||||||||,TTTA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-3271_98-3268dup|||||||rs134654||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||18|chr22:g.29090987_29090990dup|||||||||||||,TTTA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-3271_98-3268dup|||||||rs134654||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||18|chr22:g.29090987_29090990dup|||||||||||||,TTTA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-3271_98-3268dup|||||||rs134654||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||18|chr22:g.29090987_29090990dup|||||||||||||,TTTA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-3271_98-3268dup|||||||rs134654||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||18|chr22:g.29090987_29090990dup|||||||||||||,TTTA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-3271_98-3268dup|||||||rs134654||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||18|chr22:g.29090987_29090990dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73661;gnomADv4_1_AC_joint_XX=38540;gnomADv4_1_AC_joint_XY=35121;gnomADv4_1_AF_grpmax_joint=0.609589;gnomADv4_1_AF_joint=0.487608;gnomADv4_1_AF_joint_XX=0.498732;gnomADv4_1_AF_joint_XY=0.475959;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151066;gnomADv4_1_AN_joint_XX=77276;gnomADv4_1_AN_joint_XY=73790;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=18678;gnomADv4_1_nhomalt_joint_XX=9974;gnomADv4_1_nhomalt_joint_XY=8704;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29091737 chr22_29091737_C_G C G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.579;CADD_Rawscore=-0.156466;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-2521C>G|||||||rs134655||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29091737C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-2521C>G|||||||rs134655||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29091737C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-2521C>G|||||||rs134655||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29091737C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-2521C>G|||||||rs134655||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29091737C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-2521C>G|||||||rs134655||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29091737C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-2521C>G|||||||rs134655||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29091737C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-2521C>G|||||||rs134655||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29091737C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-2521C>G|||||||rs134655||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29091737C>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-5|21|-5|42;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65668;gnomADv4_1_AC_joint_XX=34363;gnomADv4_1_AC_joint_XY=31305;gnomADv4_1_AF_grpmax_joint=0.595238;gnomADv4_1_AF_joint=0.432334;gnomADv4_1_AF_joint_XX=0.44256;gnomADv4_1_AF_joint_XY=0.421639;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151892;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=74246;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=15272;gnomADv4_1_nhomalt_joint_XX=8213;gnomADv4_1_nhomalt_joint_XY=7059;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29092174 chr22_29092174_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.339;CADD_Rawscore=-0.290832;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||1/9|ENST00000327813.9:c.98-2084T>C|||||||rs134656||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29092174T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||1/8|ENST00000400335.9:c.98-2084T>C|||||||rs134656||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29092174T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||1/8|ENST00000407188.5:c.92-2084T>C|||||||rs134656||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29092174T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||1/8|NM_001039570.3:c.98-2084T>C|||||||rs134656||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29092174T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||1/9|NM_032045.5:c.98-2084T>C|||||||rs134656||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29092174T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||1/8|XM_011530429.3:c.98-2084T>C|||||||rs134656||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29092174T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||1/6|XM_011530430.3:c.98-2084T>C|||||||rs134656||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29092174T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||1/6|XM_017028989.2:c.98-2084T>C|||||||rs134656||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29092174T>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|34|46|22|-36;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=93681;gnomADv4_1_AC_joint_XX=48408;gnomADv4_1_AC_joint_XY=45273;gnomADv4_1_AF_grpmax_joint=0.757995;gnomADv4_1_AF_joint=0.616039;gnomADv4_1_AF_joint_XX=0.622819;gnomADv4_1_AF_joint_XY=0.60895;gnomADv4_1_AN_grpmax_joint=41466;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=29768;gnomADv4_1_nhomalt_joint_XX=15556;gnomADv4_1_nhomalt_joint_XY=14212;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29094509 chr22_29094509_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.32;CADD_Rawscore=0.054499;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||2/9|ENST00000327813.9:c.260+89G>A|||||||rs134657||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29094509G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||2/8|ENST00000400335.9:c.260+89G>A|||||||rs134657||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29094509G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||2/8|ENST00000407188.5:c.254+89G>A|||||||rs134657||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29094509G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134657|4532|-1||||5||||||||Ensembl||G|G||||chr22:g.29094509G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||2/8|NM_001039570.3:c.260+89G>A|||||||rs134657||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29094509G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||2/9|NM_032045.5:c.260+89G>A|||||||rs134657||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29094509G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||2/8|XM_011530429.3:c.260+89G>A|||||||rs134657||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29094509G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||2/6|XM_011530430.3:c.260+89G>A|||||||rs134657||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29094509G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||2/6|XM_017028989.2:c.260+89G>A|||||||rs134657||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29094509G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|38|-41|-50|32;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=857965;gnomADv4_1_AC_joint_XX=433140;gnomADv4_1_AC_joint_XY=424825;gnomADv4_1_AF_grpmax_joint=0.877512;gnomADv4_1_AF_joint=0.710818;gnomADv4_1_AF_joint_XX=0.712943;gnomADv4_1_AF_joint_XY=0.708665;gnomADv4_1_AN_grpmax_joint=64782;gnomADv4_1_AN_joint=1207010;gnomADv4_1_AN_joint_XX=607538;gnomADv4_1_AN_joint_XY=599472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=307616;gnomADv4_1_nhomalt_joint_XX=155791;gnomADv4_1_nhomalt_joint_XY=151825;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29094572 chr22_29094572_TACACAC_T;chr22_29094572_TAC_T TAC T 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADDIndel_PHREDscore=0.34;CADDIndel_Rawscore=-0.290519;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||2/9|ENST00000327813.9:c.260+194_260+195del|||||||rs134658||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||AC|AC||1|41|chr22:g.29094614_29094615del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||2/8|ENST00000400335.9:c.260+194_260+195del|||||||rs134658||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||AC|AC||1|41|chr22:g.29094614_29094615del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||2/8|ENST00000407188.5:c.254+194_254+195del|||||||rs134658||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||AC|AC||1|41|chr22:g.29094614_29094615del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134658|4467|-1||||5||||||||Ensembl||AC|AC||||chr22:g.29094614_29094615del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||2/8|NM_001039570.3:c.260+194_260+195del|||||||rs134658||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||AC|AC|||41|chr22:g.29094614_29094615del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||2/9|NM_032045.5:c.260+194_260+195del|||||||rs134658||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||AC|AC|||41|chr22:g.29094614_29094615del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||2/8|XM_011530429.3:c.260+194_260+195del|||||||rs134658||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||AC|AC|||41|chr22:g.29094614_29094615del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||2/6|XM_011530430.3:c.260+194_260+195del|||||||rs134658||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||AC|AC|||41|chr22:g.29094614_29094615del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||2/6|XM_017028989.2:c.260+194_260+195del|||||||rs134658||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||AC|AC|||41|chr22:g.29094614_29094615del|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|-25|-33|-31|2;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10456;gnomADv4_1_AC_joint_XX=5379;gnomADv4_1_AC_joint_XY=5077;gnomADv4_1_AF_grpmax_joint=0.0926885;gnomADv4_1_AF_joint=0.0409375;gnomADv4_1_AF_joint_XX=0.0426857;gnomADv4_1_AF_joint_XY=0.0392349;gnomADv4_1_AN_grpmax_joint=17370;gnomADv4_1_AN_joint=255414;gnomADv4_1_AN_joint_XX=126014;gnomADv4_1_AN_joint_XY=129400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=377;gnomADv4_1_nhomalt_joint_XX=202;gnomADv4_1_nhomalt_joint_XY=175;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29094572 chr22_29094572_TACACAC_T;chr22_29094572_TAC_T TACACAC T 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.728;CADDIndel_Rawscore=-0.09892;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||2/9|ENST00000327813.9:c.260+190_260+195del|||||||rs134658||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||ACACAC|ACACAC||1|37|chr22:g.29094610_29094615del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||2/8|ENST00000400335.9:c.260+190_260+195del|||||||rs134658||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||ACACAC|ACACAC||1|37|chr22:g.29094610_29094615del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||2/8|ENST00000407188.5:c.254+190_254+195del|||||||rs134658||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||ACACAC|ACACAC||1|37|chr22:g.29094610_29094615del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134658|4463|-1||||5||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29094610_29094615del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||2/8|NM_001039570.3:c.260+190_260+195del|||||||rs134658||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||ACACAC|ACACAC|||37|chr22:g.29094610_29094615del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||2/9|NM_032045.5:c.260+190_260+195del|||||||rs134658||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||ACACAC|ACACAC|||37|chr22:g.29094610_29094615del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||2/8|XM_011530429.3:c.260+190_260+195del|||||||rs134658||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||ACACAC|ACACAC|||37|chr22:g.29094610_29094615del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||2/6|XM_011530430.3:c.260+190_260+195del|||||||rs134658||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||ACACAC|ACACAC|||37|chr22:g.29094610_29094615del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||2/6|XM_017028989.2:c.260+190_260+195del|||||||rs134658||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||ACACAC|ACACAC|||37|chr22:g.29094610_29094615del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42761;gnomADv4_1_AC_joint_XX=22733;gnomADv4_1_AC_joint_XY=20028;gnomADv4_1_AF_grpmax_joint=0.224551;gnomADv4_1_AF_joint=0.167542;gnomADv4_1_AF_joint_XX=0.180544;gnomADv4_1_AF_joint_XY=0.154881;gnomADv4_1_AN_grpmax_joint=668;gnomADv4_1_AN_joint=255226;gnomADv4_1_AN_joint_XX=125914;gnomADv4_1_AN_joint_XY=129312;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5570;gnomADv4_1_nhomalt_joint_XX=3083;gnomADv4_1_nhomalt_joint_XY=2487;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29094626 chr22_29094626_C_CT;chr22_29094626_CT_C C CT 39 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=35;CADDIndel_PHREDscore=2.024;CADDIndel_Rawscore=0.167125;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||2/9|ENST00000327813.9:c.260+221dup|||||||rs134659||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|15|chr22:g.29094641dup|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||2/8|ENST00000400335.9:c.260+221dup|||||||rs134659||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|15|chr22:g.29094641dup|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||2/8|ENST00000407188.5:c.254+221dup|||||||rs134659||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|15|chr22:g.29094641dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134659|4414|-1||||5||||||||Ensembl|||||||chr22:g.29094641dup|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||2/8|NM_001039570.3:c.260+221dup|||||||rs134659||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||15|chr22:g.29094641dup|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||2/9|NM_032045.5:c.260+221dup|||||||rs134659||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||15|chr22:g.29094641dup|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||2/8|XM_011530429.3:c.260+221dup|||||||rs134659||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||15|chr22:g.29094641dup|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||2/6|XM_011530430.3:c.260+221dup|||||||rs134659||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||15|chr22:g.29094641dup|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||2/6|XM_017028989.2:c.260+221dup|||||||rs134659||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||15|chr22:g.29094641dup|||||||||||||;SpliceAI=CT|KREMEN1|0.00|0.00|0.00|0.00|19|43|-42|-44;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34373;gnomADv4_1_AC_joint_XX=19198;gnomADv4_1_AC_joint_XY=15175;gnomADv4_1_AF_grpmax_joint=0.489691;gnomADv4_1_AF_joint=0.30505;gnomADv4_1_AF_joint_XX=0.320929;gnomADv4_1_AF_joint_XY=0.287079;gnomADv4_1_AN_grpmax_joint=194;gnomADv4_1_AN_joint=112680;gnomADv4_1_AN_joint_XX=59820;gnomADv4_1_AN_joint_XY=52860;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7959;gnomADv4_1_nhomalt_joint_XX=4561;gnomADv4_1_nhomalt_joint_XY=3398;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29094626 chr22_29094626_C_CT;chr22_29094626_CT_C CT C 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=39;CADDIndel_PHREDscore=1.645;CADDIndel_Rawscore=0.112401;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||2/9|ENST00000327813.9:c.260+221del|||||||rs134659||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1|14|chr22:g.29094641del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||2/8|ENST00000400335.9:c.260+221del|||||||rs134659||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1|14|chr22:g.29094641del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||2/8|ENST00000407188.5:c.254+221del|||||||rs134659||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1|14|chr22:g.29094641del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134659|4414|-1||||5||||||||Ensembl||T|T||||chr22:g.29094641del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||2/8|NM_001039570.3:c.260+221del|||||||rs134659||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T|||14|chr22:g.29094641del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||2/9|NM_032045.5:c.260+221del|||||||rs134659||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T|||14|chr22:g.29094641del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||2/8|XM_011530429.3:c.260+221del|||||||rs134659||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T|||14|chr22:g.29094641del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||2/6|XM_011530430.3:c.260+221del|||||||rs134659||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T|||14|chr22:g.29094641del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||2/6|XM_017028989.2:c.260+221del|||||||rs134659||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T|||14|chr22:g.29094641del|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|19|14|-45|19;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=560;gnomADv4_1_AC_joint_XX=280;gnomADv4_1_AC_joint_XY=280;gnomADv4_1_AF_grpmax_joint=0.0117647;gnomADv4_1_AF_joint=0.00495891;gnomADv4_1_AF_joint_XX=0.00466947;gnomADv4_1_AF_joint_XY=0.00528661;gnomADv4_1_AN_grpmax_joint=3740;gnomADv4_1_AN_joint=112928;gnomADv4_1_AN_joint_XX=59964;gnomADv4_1_AN_joint_XY=52964;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6;gnomADv4_1_nhomalt_joint_XX=2;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29094968 chr22_29094968_G_C G C 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.324;CADD_Rawscore=0.05535;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||2/9|ENST00000327813.9:c.260+548G>C|||||||rs134660||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29094968G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||2/8|ENST00000400335.9:c.260+548G>C|||||||rs134660||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29094968G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||2/8|ENST00000407188.5:c.254+548G>C|||||||rs134660||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29094968G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134660|4073|-1||||5||||||||Ensembl||G|G||||chr22:g.29094968G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||2/8|NM_001039570.3:c.260+548G>C|||||||rs134660||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29094968G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||2/9|NM_032045.5:c.260+548G>C|||||||rs134660||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29094968G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||2/8|XM_011530429.3:c.260+548G>C|||||||rs134660||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29094968G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||2/6|XM_011530430.3:c.260+548G>C|||||||rs134660||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29094968G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||2/6|XM_017028989.2:c.260+548G>C|||||||rs134660||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29094968G>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|5|46|-21|46;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=113426;gnomADv4_1_AC_joint_XX=58111;gnomADv4_1_AC_joint_XY=55315;gnomADv4_1_AF_grpmax_joint=0.872677;gnomADv4_1_AF_joint=0.745468;gnomADv4_1_AF_joint_XX=0.747139;gnomADv4_1_AF_joint_XY=0.743721;gnomADv4_1_AN_grpmax_joint=41540;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=42969;gnomADv4_1_nhomalt_joint_XX=22039;gnomADv4_1_nhomalt_joint_XY=20930;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29095508 chr22_29095508_G_T G T 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=7.296;CADD_Rawscore=0.690477;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||2/9|ENST00000327813.9:c.260+1088G>T|||||||rs62236922||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29095508G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||2/8|ENST00000400335.9:c.260+1088G>T|||||||rs62236922||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29095508G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||2/8|ENST00000407188.5:c.254+1088G>T|||||||rs62236922||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29095508G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs62236922|3533|-1||||5||||||||Ensembl||G|G||||chr22:g.29095508G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||2/8|NM_001039570.3:c.260+1088G>T|||||||rs62236922||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29095508G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||2/9|NM_032045.5:c.260+1088G>T|||||||rs62236922||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29095508G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||2/8|XM_011530429.3:c.260+1088G>T|||||||rs62236922||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29095508G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||2/6|XM_011530430.3:c.260+1088G>T|||||||rs62236922||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29095508G>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||2/6|XM_017028989.2:c.260+1088G>T|||||||rs62236922||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29095508G>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|18|4|-16|-31;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7445;gnomADv4_1_AC_joint_XX=3834;gnomADv4_1_AC_joint_XY=3611;gnomADv4_1_AF_grpmax_joint=0.0952381;gnomADv4_1_AF_joint=0.0488863;gnomADv4_1_AF_joint_XX=0.0492637;gnomADv4_1_AF_joint_XY=0.0484919;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152292;gnomADv4_1_AN_joint_XX=77826;gnomADv4_1_AN_joint_XY=74466;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=227;gnomADv4_1_nhomalt_joint_XX=120;gnomADv4_1_nhomalt_joint_XY=107;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29095718 chr22_29095718_C_T C T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.611;CADD_Rawscore=0.106924;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||2/9|ENST00000327813.9:c.260+1298C>T|||||||rs134661||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29095718C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||2/8|ENST00000400335.9:c.260+1298C>T|||||||rs134661||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29095718C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||2/8|ENST00000407188.5:c.254+1298C>T|||||||rs134661||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29095718C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134661|3323|-1||||5||||||||Ensembl||C|C||||chr22:g.29095718C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||2/8|NM_001039570.3:c.260+1298C>T|||||||rs134661||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29095718C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||2/9|NM_032045.5:c.260+1298C>T|||||||rs134661||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29095718C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||2/8|XM_011530429.3:c.260+1298C>T|||||||rs134661||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29095718C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||2/6|XM_011530430.3:c.260+1298C>T|||||||rs134661||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29095718C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||2/6|XM_017028989.2:c.260+1298C>T|||||||rs134661||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29095718C>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|-48|-13|-48|36;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48243;gnomADv4_1_AC_joint_XX=25336;gnomADv4_1_AC_joint_XY=22907;gnomADv4_1_AF_grpmax_joint=0.496599;gnomADv4_1_AF_joint=0.317217;gnomADv4_1_AF_joint_XX=0.325974;gnomADv4_1_AF_joint_XY=0.308064;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9400;gnomADv4_1_nhomalt_joint_XX=5097;gnomADv4_1_nhomalt_joint_XY=4303;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29096124 chr22_29096124_A_G A G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=5.471;CADD_Rawscore=0.500796;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||2/9|ENST00000327813.9:c.260+1704A>G|||||||rs134662||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29096124A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||2/8|ENST00000400335.9:c.260+1704A>G|||||||rs134662||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29096124A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||2/8|ENST00000407188.5:c.254+1704A>G|||||||rs134662||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29096124A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134662|2917|-1||||5||||||||Ensembl||A|A||||chr22:g.29096124A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||2/8|NM_001039570.3:c.260+1704A>G|||||||rs134662||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29096124A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||2/9|NM_032045.5:c.260+1704A>G|||||||rs134662||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29096124A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||2/8|XM_011530429.3:c.260+1704A>G|||||||rs134662||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29096124A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||2/6|XM_011530430.3:c.260+1704A>G|||||||rs134662||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29096124A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||2/6|XM_017028989.2:c.260+1704A>G|||||||rs134662||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29096124A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|1|9|39|-35;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48253;gnomADv4_1_AC_joint_XX=25348;gnomADv4_1_AC_joint_XY=22905;gnomADv4_1_AF_grpmax_joint=0.496599;gnomADv4_1_AF_joint=0.317183;gnomADv4_1_AF_joint_XX=0.325986;gnomADv4_1_AF_joint_XY=0.307979;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9407;gnomADv4_1_nhomalt_joint_XX=5105;gnomADv4_1_nhomalt_joint_XY=4302;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29098154 chr22_29098154_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.751;CADD_Rawscore=-0.091021;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||2/9|ENST00000327813.9:c.261-708T>C|||||||rs134663||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29098154T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||2/8|ENST00000400335.9:c.261-708T>C|||||||rs134663||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29098154T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||2/8|ENST00000407188.5:c.255-708T>C|||||||rs134663||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29098154T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134663|887|-1||||5||||||||Ensembl||T|T||||chr22:g.29098154T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||2/8|NM_001039570.3:c.261-708T>C|||||||rs134663||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29098154T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||2/9|NM_032045.5:c.261-708T>C|||||||rs134663||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29098154T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||2/8|XM_011530429.3:c.261-708T>C|||||||rs134663||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29098154T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||2/6|XM_011530430.3:c.261-708T>C|||||||rs134663||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29098154T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||||||||||rs134663|3571|1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29098154T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||2/6|XM_017028989.2:c.261-708T>C|||||||rs134663||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29098154T>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|8|16|26|8;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=145699;gnomADv4_1_AC_joint_XX=74440;gnomADv4_1_AC_joint_XY=71259;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.961164;gnomADv4_1_AF_joint_XX=0.959625;gnomADv4_1_AF_joint_XY=0.962777;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=151586;gnomADv4_1_AN_joint_XX=77572;gnomADv4_1_AN_joint_XY=74014;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70094;gnomADv4_1_nhomalt_joint_XX=35757;gnomADv4_1_nhomalt_joint_XY=34337;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29098160 chr22_29098160_T_C T C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.285;CADD_Rawscore=-0.335061;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||2/9|ENST00000327813.9:c.261-702T>C|||||||rs134664||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29098160T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||2/8|ENST00000400335.9:c.261-702T>C|||||||rs134664||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29098160T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||2/8|ENST00000407188.5:c.255-702T>C|||||||rs134664||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29098160T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134664|881|-1||||5||||||||Ensembl||T|T||||chr22:g.29098160T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||2/8|NM_001039570.3:c.261-702T>C|||||||rs134664||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29098160T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||2/9|NM_032045.5:c.261-702T>C|||||||rs134664||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29098160T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||2/8|XM_011530429.3:c.261-702T>C|||||||rs134664||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29098160T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||2/6|XM_011530430.3:c.261-702T>C|||||||rs134664||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29098160T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||||||||||rs134664|3565|1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29098160T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||2/6|XM_017028989.2:c.261-702T>C|||||||rs134664||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29098160T>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|2|16|2|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=113143;gnomADv4_1_AC_joint_XX=58082;gnomADv4_1_AC_joint_XY=55061;gnomADv4_1_AF_grpmax_joint=0.87955;gnomADv4_1_AF_joint=0.747964;gnomADv4_1_AF_joint_XX=0.750103;gnomADv4_1_AF_joint_XY=0.74572;gnomADv4_1_AN_grpmax_joint=41262;gnomADv4_1_AN_joint=151268;gnomADv4_1_AN_joint_XX=77432;gnomADv4_1_AN_joint_XY=73836;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=43030;gnomADv4_1_nhomalt_joint_XX=22126;gnomADv4_1_nhomalt_joint_XY=20904;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29098185 chr22_29098185_CA_C CA C 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=1.118;CADDIndel_Rawscore=0.011105;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||2/9|ENST00000327813.9:c.261-665del|||||||rs11366831||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1|11|chr22:g.29098197del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||2/8|ENST00000400335.9:c.261-665del|||||||rs11366831||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1|11|chr22:g.29098197del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||2/8|ENST00000407188.5:c.255-665del|||||||rs11366831||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1|11|chr22:g.29098197del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs11366831|855|-1||||5||||||||Ensembl||A|A||||chr22:g.29098197del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||2/8|NM_001039570.3:c.261-665del|||||||rs11366831||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A|||11|chr22:g.29098197del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||2/9|NM_032045.5:c.261-665del|||||||rs11366831||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A|||11|chr22:g.29098197del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||2/8|XM_011530429.3:c.261-665del|||||||rs11366831||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A|||11|chr22:g.29098197del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||2/6|XM_011530430.3:c.261-665del|||||||rs11366831||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A|||11|chr22:g.29098197del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||||||||||rs11366831|3539|1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||A|A||||chr22:g.29098197del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||2/6|XM_017028989.2:c.261-665del|||||||rs11366831||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A|||11|chr22:g.29098197del|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-27|-9|31|-23;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18262;gnomADv4_1_AC_joint_XX=9437;gnomADv4_1_AC_joint_XY=8825;gnomADv4_1_AF_grpmax_joint=0.264769;gnomADv4_1_AF_joint=0.136467;gnomADv4_1_AF_joint_XX=0.135878;gnomADv4_1_AF_joint_XY=0.137102;gnomADv4_1_AN_grpmax_joint=37444;gnomADv4_1_AN_joint=133820;gnomADv4_1_AN_joint_XX=69452;gnomADv4_1_AN_joint_XY=64368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1522;gnomADv4_1_nhomalt_joint_XX=816;gnomADv4_1_nhomalt_joint_XY=706;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29099091 chr22_29099091_G_A G A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.999;CADD_Rawscore=0.365107;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+138G>A|||||||rs134665||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29099091G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+138G>A|||||||rs134665||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29099091G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+138G>A|||||||rs134665||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29099091G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA|2/2||ENST00000456740.1:n.489C>T||489|||||rs134665||-1||||5||||||||Ensembl||G|G||||chr22:g.29099091G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+138G>A|||||||rs134665||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29099091G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+138G>A|||||||rs134665||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29099091G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+138G>A|||||||rs134665||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29099091G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+138G>A|||||||rs134665||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29099091G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||||||||||rs134665|2634|1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29099091G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+138G>A|||||||rs134665||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29099091G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|25|-17|-3|-47;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=294727;gnomADv4_1_AC_joint_XX=143601;gnomADv4_1_AC_joint_XY=151126;gnomADv4_1_AF_grpmax_joint=0.613849;gnomADv4_1_AF_joint=0.46946;gnomADv4_1_AF_joint_XX=0.478004;gnomADv4_1_AF_joint_XY=0.46162;gnomADv4_1_AN_grpmax_joint=3206;gnomADv4_1_AN_joint=627800;gnomADv4_1_AN_joint_XX=300418;gnomADv4_1_AN_joint_XY=327382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=74687;gnomADv4_1_nhomalt_joint_XX=36856;gnomADv4_1_nhomalt_joint_XY=37831;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29099266 chr22_29099266_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.932;CADD_Rawscore=-0.035917;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+313G>A|||||||rs134666||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29099266G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+313G>A|||||||rs134666||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29099266G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+313G>A|||||||rs134666||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29099266G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA|2/2||ENST00000456740.1:n.314C>T||314|||||rs134666||-1||||5||||||||Ensembl||G|G||||chr22:g.29099266G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+313G>A|||||||rs134666||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29099266G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+313G>A|||||||rs134666||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29099266G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+313G>A|||||||rs134666||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29099266G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+313G>A|||||||rs134666||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29099266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||||||||||rs134666|2459|1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29099266G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+313G>A|||||||rs134666||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29099266G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|-30|-38|-39|11;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=171349;gnomADv4_1_AC_joint_XX=86905;gnomADv4_1_AC_joint_XY=84444;gnomADv4_1_AF_grpmax_joint=0.936874;gnomADv4_1_AF_joint=0.756949;gnomADv4_1_AF_joint_XX=0.761163;gnomADv4_1_AF_joint_XY=0.752661;gnomADv4_1_AN_grpmax_joint=43500;gnomADv4_1_AN_joint=226368;gnomADv4_1_AN_joint_XX=114174;gnomADv4_1_AN_joint_XY=112194;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=66279;gnomADv4_1_nhomalt_joint_XX=33766;gnomADv4_1_nhomalt_joint_XY=32513;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29100094 chr22_29100094_CT_C CT C 40 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.175;CADDIndel_Rawscore=-0.462376;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+1156del|||||||rs71196622||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1|14|chr22:g.29100109del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+1156del|||||||rs71196622||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1|14|chr22:g.29100109del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+1156del|||||||rs71196622||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1|14|chr22:g.29100109del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.104-619del|||||||rs71196622||-1||||5||||||||Ensembl||T|T||||chr22:g.29100109del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+1156del|||||||rs71196622||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T|||14|chr22:g.29100109del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+1156del|||||||rs71196622||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T|||14|chr22:g.29100109del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+1156del|||||||rs71196622||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T|||14|chr22:g.29100109del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+1156del|||||||rs71196622||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T|||14|chr22:g.29100109del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||||||||||rs71196622|1630|1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29100109del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+1156del|||||||rs71196622||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T|||14|chr22:g.29100109del|||||||||||||;SpliceAI=C|KREMEN1|0.01|0.00|0.00|0.00|23|19|43|19;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=75430;gnomADv4_1_AC_joint_XX=39440;gnomADv4_1_AC_joint_XY=35990;gnomADv4_1_AF_grpmax_joint=0.80268;gnomADv4_1_AF_joint=0.638545;gnomADv4_1_AF_joint_XX=0.640447;gnomADv4_1_AF_joint_XY=0.636473;gnomADv4_1_AN_grpmax_joint=29034;gnomADv4_1_AN_joint=118128;gnomADv4_1_AN_joint_XX=61582;gnomADv4_1_AN_joint_XY=56546;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22722;gnomADv4_1_nhomalt_joint_XX=11838;gnomADv4_1_nhomalt_joint_XY=10884;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29101155 chr22_29101155_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.117;CADD_Rawscore=0.179057;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+2202A>G|||||||rs134667||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29101155A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+2202A>G|||||||rs134667||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29101155A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+2202A>G|||||||rs134667||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29101155A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.104-1679T>C|||||||rs134667||-1||||5||||||||Ensembl||A|A||||chr22:g.29101155A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+2202A>G|||||||rs134667||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29101155A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+2202A>G|||||||rs134667||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29101155A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+2202A>G|||||||rs134667||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29101155A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+2202A>G|||||||rs134667||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29101155A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||||||||||rs134667|570|1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||A|A||||chr22:g.29101155A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+2202A>G|||||||rs134667||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29101155A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-48|-16|-45|-17;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96432;gnomADv4_1_AC_joint_XX=49952;gnomADv4_1_AC_joint_XY=46480;gnomADv4_1_AF_grpmax_joint=0.828658;gnomADv4_1_AF_joint=0.639376;gnomADv4_1_AF_joint_XX=0.647281;gnomADv4_1_AF_joint_XY=0.631093;gnomADv4_1_AN_grpmax_joint=41064;gnomADv4_1_AN_joint=150822;gnomADv4_1_AN_joint_XX=77172;gnomADv4_1_AN_joint_XY=73650;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=32155;gnomADv4_1_nhomalt_joint_XX=16875;gnomADv4_1_nhomalt_joint_XY=15280;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29101252 chr22_29101252_CA_C CA C 37 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=37;CADDIndel_PHREDscore=0.268;CADDIndel_Rawscore=-0.351273;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+2322del|||||||rs368843166||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1|22|chr22:g.29101275del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+2322del|||||||rs368843166||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1|22|chr22:g.29101275del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+2322del|||||||rs368843166||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1|22|chr22:g.29101275del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.104-1777del|||||||rs368843166||-1||||5||||||||Ensembl||A|A||||chr22:g.29101275del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+2322del|||||||rs368843166||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A|||22|chr22:g.29101275del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+2322del|||||||rs368843166||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A|||22|chr22:g.29101275del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+2322del|||||||rs368843166||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A|||22|chr22:g.29101275del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+2322del|||||||rs368843166||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A|||22|chr22:g.29101275del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||||||||||rs368843166|472|1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||A|A||||chr22:g.29101275del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+2322del|||||||rs368843166||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A|||22|chr22:g.29101275del|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|25|-10|48|27;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27713;gnomADv4_1_AC_joint_XX=15335;gnomADv4_1_AC_joint_XY=12378;gnomADv4_1_AF_grpmax_joint=0.5;gnomADv4_1_AF_joint=0.370346;gnomADv4_1_AF_joint_XX=0.374079;gnomADv4_1_AF_joint_XY=0.365823;gnomADv4_1_AN_grpmax_joint=106;gnomADv4_1_AN_joint=74830;gnomADv4_1_AN_joint_XX=40994;gnomADv4_1_AN_joint_XY=33836;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1457;gnomADv4_1_nhomalt_joint_XX=735;gnomADv4_1_nhomalt_joint_XY=722;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29103822 chr22_29103822_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=10.03;CADD_Rawscore=0.973489;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+4869G>A|||||||rs134669||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29103822G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+4869G>A|||||||rs134669||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29103822G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+4869G>A|||||||rs134669||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29103822G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.104-4346C>T|||||||rs134669||-1||||5||||||||Ensembl||G|G||||chr22:g.29103822G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+4869G>A|||||||rs134669||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29103822G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+4869G>A|||||||rs134669||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29103822G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+4869G>A|||||||rs134669||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29103822G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+4869G>A|||||||rs134669||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29103822G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+325G>A|||||||rs134669||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29103822G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+4869G>A|||||||rs134669||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29103822G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|12|-13|2|27;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=113511;gnomADv4_1_AC_joint_XX=58175;gnomADv4_1_AC_joint_XY=55336;gnomADv4_1_AF_grpmax_joint=0.874916;gnomADv4_1_AF_joint=0.746321;gnomADv4_1_AF_joint_XX=0.748289;gnomADv4_1_AF_joint_XY=0.744264;gnomADv4_1_AN_grpmax_joint=41500;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=43056;gnomADv4_1_nhomalt_joint_XX=22096;gnomADv4_1_nhomalt_joint_XY=20960;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29104823 chr22_29104823_A_G A G 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.538;CADD_Rawscore=0.094763;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+5870A>G|||||||rs134670||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29104823A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+5870A>G|||||||rs134670||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29104823A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+5870A>G|||||||rs134670||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29104823A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.104-5347T>C|||||||rs134670||-1||||5||||||||Ensembl||A|A||||chr22:g.29104823A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+5870A>G|||||||rs134670||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29104823A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+5870A>G|||||||rs134670||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29104823A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+5870A>G|||||||rs134670||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29104823A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+5870A>G|||||||rs134670||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29104823A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+1326A>G|||||||rs134670||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||A|A||||chr22:g.29104823A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+5870A>G|||||||rs134670||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29104823A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|1|-48|-26|-48;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=113574;gnomADv4_1_AC_joint_XX=58205;gnomADv4_1_AC_joint_XY=55369;gnomADv4_1_AF_grpmax_joint=0.875;gnomADv4_1_AF_joint=0.746274;gnomADv4_1_AF_joint_XX=0.74829;gnomADv4_1_AF_joint_XY=0.744167;gnomADv4_1_AN_grpmax_joint=41536;gnomADv4_1_AN_joint=152188;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=43082;gnomADv4_1_nhomalt_joint_XX=22111;gnomADv4_1_nhomalt_joint_XY=20971;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29104888 chr22_29104888_C_T C T 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.228;CADD_Rawscore=-0.392854;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+5935C>T|||||||rs6005992||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29104888C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+5935C>T|||||||rs6005992||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29104888C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+5935C>T|||||||rs6005992||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29104888C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.104-5412G>A|||||||rs6005992||-1||||5||||||||Ensembl||C|C||||chr22:g.29104888C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+5935C>T|||||||rs6005992||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29104888C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+5935C>T|||||||rs6005992||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29104888C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+5935C>T|||||||rs6005992||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29104888C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+5935C>T|||||||rs6005992||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29104888C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+1391C>T|||||||rs6005992||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||C|C||||chr22:g.29104888C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+5935C>T|||||||rs6005992||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29104888C>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|8|-22|-7|11;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18412;gnomADv4_1_AC_joint_XX=9506;gnomADv4_1_AC_joint_XY=8906;gnomADv4_1_AF_grpmax_joint=0.246719;gnomADv4_1_AF_joint=0.121165;gnomADv4_1_AF_joint_XX=0.122377;gnomADv4_1_AF_joint_XY=0.119898;gnomADv4_1_AN_grpmax_joint=41456;gnomADv4_1_AN_joint=151958;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1594;gnomADv4_1_nhomalt_joint_XX=851;gnomADv4_1_nhomalt_joint_XY=743;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29105290 chr22_29105290_T_G T G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.608;CADD_Rawscore=0.330378;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+6337T>G|||||||rs134672||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29105290T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+6337T>G|||||||rs134672||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29105290T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+6337T>G|||||||rs134672||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29105290T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.104-5814A>C|||||||rs134672||-1||||5||||||||Ensembl||T|T||||chr22:g.29105290T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+6337T>G|||||||rs134672||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29105290T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+6337T>G|||||||rs134672||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29105290T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+6337T>G|||||||rs134672||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29105290T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+6337T>G|||||||rs134672||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29105290T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+1793T>G|||||||rs134672||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29105290T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+6337T>G|||||||rs134672||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29105290T>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|33|-13|-4|32;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=113237;gnomADv4_1_AC_joint_XX=58060;gnomADv4_1_AC_joint_XY=55177;gnomADv4_1_AF_grpmax_joint=0.875151;gnomADv4_1_AF_joint=0.746198;gnomADv4_1_AF_joint_XX=0.748099;gnomADv4_1_AF_joint_XY=0.744207;gnomADv4_1_AN_grpmax_joint=41338;gnomADv4_1_AN_joint=151752;gnomADv4_1_AN_joint_XX=77610;gnomADv4_1_AN_joint_XY=74142;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=42953;gnomADv4_1_nhomalt_joint_XX=22054;gnomADv4_1_nhomalt_joint_XY=20899;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29105478 chr22_29105478_T_TACAC;chr22_29105478_TACAC_T TACAC T 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADDIndel_PHREDscore=0.383;CADDIndel_Rawscore=-0.259931;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+6556_352+6559del|||||||rs10642386||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||ACAC|ACAC||1|30|chr22:g.29105509_29105512del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+6556_352+6559del|||||||rs10642386||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||ACAC|ACAC||1|30|chr22:g.29105509_29105512del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+6556_346+6559del|||||||rs10642386||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||ACAC|ACAC||1|30|chr22:g.29105509_29105512del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.104-6006_104-6003del|||||||rs10642386||-1||||5||||||||Ensembl||ACAC|ACAC||||chr22:g.29105509_29105512del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+6556_352+6559del|||||||rs10642386||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||ACAC|ACAC|||30|chr22:g.29105509_29105512del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+6556_352+6559del|||||||rs10642386||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||ACAC|ACAC|||30|chr22:g.29105509_29105512del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+6556_352+6559del|||||||rs10642386||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||ACAC|ACAC|||30|chr22:g.29105509_29105512del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+6556_352+6559del|||||||rs10642386||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||ACAC|ACAC|||30|chr22:g.29105509_29105512del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+2012_37+2015del|||||||rs10642386||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||ACAC|ACAC|||30|chr22:g.29105509_29105512del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+6556_352+6559del|||||||rs10642386||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||ACAC|ACAC|||30|chr22:g.29105509_29105512del|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|-26|29|-20|-8;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14371;gnomADv4_1_AC_joint_XX=7473;gnomADv4_1_AC_joint_XY=6898;gnomADv4_1_AF_grpmax_joint=0.201682;gnomADv4_1_AF_joint=0.0978138;gnomADv4_1_AF_joint_XX=0.0989618;gnomADv4_1_AF_joint_XY=0.0965998;gnomADv4_1_AN_grpmax_joint=39706;gnomADv4_1_AN_joint=146922;gnomADv4_1_AN_joint_XX=75514;gnomADv4_1_AN_joint_XY=71408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=931;gnomADv4_1_nhomalt_joint_XX=476;gnomADv4_1_nhomalt_joint_XY=455;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29105478 chr22_29105478_T_TACAC;chr22_29105478_TACAC_T T TACAC 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=37;CADDIndel_PHREDscore=0.698;CADDIndel_Rawscore=-0.109794;CSQ=ACAC|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+6556_352+6559dup|||||||rs10642386||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|34|chr22:g.29105509_29105512dup|||||||||||||,ACAC|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+6556_352+6559dup|||||||rs10642386||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|34|chr22:g.29105509_29105512dup|||||||||||||,ACAC|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+6556_346+6559dup|||||||rs10642386||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|34|chr22:g.29105509_29105512dup|||||||||||||,ACAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.104-6006_104-6003dup|||||||rs10642386||-1||||5||||||||Ensembl|||||||chr22:g.29105509_29105512dup|||||||||||||,ACAC|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+6556_352+6559dup|||||||rs10642386||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||34|chr22:g.29105509_29105512dup|||||||||||||,ACAC|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+6556_352+6559dup|||||||rs10642386||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||34|chr22:g.29105509_29105512dup|||||||||||||,ACAC|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+6556_352+6559dup|||||||rs10642386||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||34|chr22:g.29105509_29105512dup|||||||||||||,ACAC|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+6556_352+6559dup|||||||rs10642386||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||34|chr22:g.29105509_29105512dup|||||||||||||,ACAC|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+2012_37+2015dup|||||||rs10642386||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||||||34|chr22:g.29105509_29105512dup|||||||||||||,ACAC|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+6556_352+6559dup|||||||rs10642386||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||34|chr22:g.29105509_29105512dup|||||||||||||;TYPE=INDEL;VEP_Allele=ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44511;gnomADv4_1_AC_joint_XX=23604;gnomADv4_1_AC_joint_XY=20907;gnomADv4_1_AF_grpmax_joint=0.427083;gnomADv4_1_AF_joint=0.30308;gnomADv4_1_AF_joint_XX=0.312627;gnomADv4_1_AF_joint_XY=0.292979;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=146862;gnomADv4_1_AN_joint_XX=75502;gnomADv4_1_AN_joint_XY=71360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7966;gnomADv4_1_nhomalt_joint_XX=4345;gnomADv4_1_nhomalt_joint_XY=3621;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29105693 chr22_29105693_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.709;CADD_Rawscore=0.33936;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+6740G>A|||||||rs134674||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29105693G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+6740G>A|||||||rs134674||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29105693G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+6740G>A|||||||rs134674||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29105693G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.103+5888C>T|||||||rs134674||-1||||5||||||||Ensembl||G|G||||chr22:g.29105693G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+6740G>A|||||||rs134674||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29105693G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+6740G>A|||||||rs134674||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29105693G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+6740G>A|||||||rs134674||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29105693G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+6740G>A|||||||rs134674||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29105693G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+2196G>A|||||||rs134674||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29105693G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+6740G>A|||||||rs134674||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29105693G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|2|-20|17|-20;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97227;gnomADv4_1_AC_joint_XX=50296;gnomADv4_1_AC_joint_XY=46931;gnomADv4_1_AF_grpmax_joint=0.828779;gnomADv4_1_AF_joint=0.639483;gnomADv4_1_AF_joint_XX=0.647077;gnomADv4_1_AF_joint_XY=0.63154;gnomADv4_1_AN_grpmax_joint=41502;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=32438;gnomADv4_1_nhomalt_joint_XX=16995;gnomADv4_1_nhomalt_joint_XY=15443;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29106218 chr22_29106218_CT_C CT C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=3.02;CADDIndel_Rawscore=0.276379;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+7279del|||||||rs36063476||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1|13|chr22:g.29106232del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+7279del|||||||rs36063476||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1|13|chr22:g.29106232del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+7279del|||||||rs36063476||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1|13|chr22:g.29106232del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.103+5362del|||||||rs36063476||-1||||5||||||||Ensembl||T|T||||chr22:g.29106232del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+7279del|||||||rs36063476||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T|||13|chr22:g.29106232del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+7279del|||||||rs36063476||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T|||13|chr22:g.29106232del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+7279del|||||||rs36063476||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T|||13|chr22:g.29106232del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+7279del|||||||rs36063476||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T|||13|chr22:g.29106232del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+2735del|||||||rs36063476||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T|||13|chr22:g.29106232del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+7279del|||||||rs36063476||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T|||13|chr22:g.29106232del|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-18|28|-29|28;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74106;gnomADv4_1_AC_joint_XX=38727;gnomADv4_1_AC_joint_XY=35379;gnomADv4_1_AF_grpmax_joint=0.642336;gnomADv4_1_AF_joint=0.517891;gnomADv4_1_AF_joint_XX=0.526683;gnomADv4_1_AF_joint_XY=0.508597;gnomADv4_1_AN_grpmax_joint=274;gnomADv4_1_AN_joint=143092;gnomADv4_1_AN_joint_XX=73530;gnomADv4_1_AN_joint_XY=69562;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=18767;gnomADv4_1_nhomalt_joint_XX=10009;gnomADv4_1_nhomalt_joint_XY=8758;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29106740 chr22_29106740_G_A G A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=11.39;CADD_Rawscore=1.10205;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+7787G>A|||||||rs126077||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29106740G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+7787G>A|||||||rs126077||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29106740G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+7787G>A|||||||rs126077||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29106740G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.103+4841C>T|||||||rs126077||-1||||5||||||||Ensembl||G|G||||chr22:g.29106740G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+7787G>A|||||||rs126077||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29106740G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+7787G>A|||||||rs126077||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29106740G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+7787G>A|||||||rs126077||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29106740G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+7787G>A|||||||rs126077||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29106740G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+3243G>A|||||||rs126077||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29106740G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+7787G>A|||||||rs126077||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29106740G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|2|-19|2|12;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81098;gnomADv4_1_AC_joint_XX=42152;gnomADv4_1_AC_joint_XY=38946;gnomADv4_1_AF_grpmax_joint=0.642857;gnomADv4_1_AF_joint=0.533891;gnomADv4_1_AF_joint_XX=0.542748;gnomADv4_1_AF_joint_XY=0.524624;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151900;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=22263;gnomADv4_1_nhomalt_joint_XX=11765;gnomADv4_1_nhomalt_joint_XY=10498;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29107203 chr22_29107203_C_T C T 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.876;CADD_Rawscore=0.146999;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+8250C>T|||||||rs134676||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29107203C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+8250C>T|||||||rs134676||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29107203C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+8250C>T|||||||rs134676||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29107203C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.103+4378G>A|||||||rs134676||-1||||5||||||||Ensembl||C|C||||chr22:g.29107203C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+8250C>T|||||||rs134676||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29107203C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+8250C>T|||||||rs134676||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29107203C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+8250C>T|||||||rs134676||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29107203C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+8250C>T|||||||rs134676||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29107203C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+3706C>T|||||||rs134676||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||C|C||||chr22:g.29107203C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+8250C>T|||||||rs134676||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29107203C>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|45|2|45|2;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111693;gnomADv4_1_AC_joint_XX=57466;gnomADv4_1_AC_joint_XY=54227;gnomADv4_1_AF_grpmax_joint=0.874499;gnomADv4_1_AF_joint=0.744958;gnomADv4_1_AF_joint_XX=0.746971;gnomADv4_1_AF_joint_XY=0.742836;gnomADv4_1_AN_grpmax_joint=40390;gnomADv4_1_AN_joint=149932;gnomADv4_1_AN_joint_XX=76932;gnomADv4_1_AN_joint_XY=73000;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=42297;gnomADv4_1_nhomalt_joint_XX=21795;gnomADv4_1_nhomalt_joint_XY=20502;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29107218 chr22_29107218_CT_C CT C 28 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=28;CADDIndel_PHREDscore=1.363;CADDIndel_Rawscore=0.063067;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+8287del|||||||rs1188000476||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1|21|chr22:g.29107240del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+8287del|||||||rs1188000476||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1|21|chr22:g.29107240del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+8287del|||||||rs1188000476||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1|21|chr22:g.29107240del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.103+4362del|||||||rs1188000476||-1||||5||||||||Ensembl||T|T||||chr22:g.29107240del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+8287del|||||||rs1188000476||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T|||21|chr22:g.29107240del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+8287del|||||||rs1188000476||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T|||21|chr22:g.29107240del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+8287del|||||||rs1188000476||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T|||21|chr22:g.29107240del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+8287del|||||||rs1188000476||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T|||21|chr22:g.29107240del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+3743del|||||||rs1188000476||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T|||21|chr22:g.29107240del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+8287del|||||||rs1188000476||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T|||21|chr22:g.29107240del|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|26|30|23|30;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22313;gnomADv4_1_AC_joint_XX=11891;gnomADv4_1_AC_joint_XY=10422;gnomADv4_1_AF_grpmax_joint=0.482962;gnomADv4_1_AF_joint=0.199437;gnomADv4_1_AF_joint_XX=0.201665;gnomADv4_1_AF_joint_XY=0.196954;gnomADv4_1_AN_grpmax_joint=23360;gnomADv4_1_AN_joint=111880;gnomADv4_1_AN_joint_XX=58964;gnomADv4_1_AN_joint_XY=52916;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2533;gnomADv4_1_nhomalt_joint_XX=1352;gnomADv4_1_nhomalt_joint_XY=1181;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29107899 chr22_29107899_T_C T C 60 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=3.642;CADD_Rawscore=0.333457;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+8946T>C|||||||rs134677||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29107899T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+8946T>C|||||||rs134677||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29107899T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+8946T>C|||||||rs134677||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29107899T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.103+3682A>G|||||||rs134677||-1||||5||||||||Ensembl||T|T||||chr22:g.29107899T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+8946T>C|||||||rs134677||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29107899T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+8946T>C|||||||rs134677||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29107899T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+8946T>C|||||||rs134677||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29107899T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+8946T>C|||||||rs134677||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29107899T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+4402T>C|||||||rs134677||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29107899T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+8946T>C|||||||rs134677||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29107899T>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-34|-11|13|4;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=113485;gnomADv4_1_AC_joint_XX=58178;gnomADv4_1_AC_joint_XY=55307;gnomADv4_1_AF_grpmax_joint=0.875175;gnomADv4_1_AF_joint=0.746298;gnomADv4_1_AF_joint_XX=0.748366;gnomADv4_1_AF_joint_XY=0.744134;gnomADv4_1_AN_grpmax_joint=41506;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=43047;gnomADv4_1_nhomalt_joint_XX=22098;gnomADv4_1_nhomalt_joint_XY=20949;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29107967 chr22_29107967_T_C T C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.131;CADD_Rawscore=0.014107;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+9014T>C|||||||rs134678||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29107967T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+9014T>C|||||||rs134678||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29107967T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+9014T>C|||||||rs134678||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29107967T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.103+3614A>G|||||||rs134678||-1||||5||||||||Ensembl||T|T||||chr22:g.29107967T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+9014T>C|||||||rs134678||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29107967T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+9014T>C|||||||rs134678||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29107967T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+9014T>C|||||||rs134678||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29107967T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+9014T>C|||||||rs134678||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29107967T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+4470T>C|||||||rs134678||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29107967T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+9014T>C|||||||rs134678||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29107967T>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-5|26|24|-34;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81265;gnomADv4_1_AC_joint_XX=42234;gnomADv4_1_AC_joint_XY=39031;gnomADv4_1_AF_grpmax_joint=0.64726;gnomADv4_1_AF_joint=0.534371;gnomADv4_1_AF_joint_XX=0.543272;gnomADv4_1_AF_joint_XY=0.525062;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=22339;gnomADv4_1_nhomalt_joint_XX=11802;gnomADv4_1_nhomalt_joint_XY=10537;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29108085 chr22_29108085_A_T A T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.104;CADD_Rawscore=0.177445;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.352+9132A>T|||||||rs134679||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29108085A>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.352+9132A>T|||||||rs134679||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29108085A>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.346+9132A>T|||||||rs134679||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29108085A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.103+3496T>A|||||||rs134679||-1||||5||||||||Ensembl||A|A||||chr22:g.29108085A>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.352+9132A>T|||||||rs134679||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29108085A>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.352+9132A>T|||||||rs134679||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29108085A>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.352+9132A>T|||||||rs134679||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29108085A>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+9132A>T|||||||rs134679||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29108085A>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+4588A>T|||||||rs134679||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||A|A||||chr22:g.29108085A>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+9132A>T|||||||rs134679||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29108085A>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|-30|-36|16|-36;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81255;gnomADv4_1_AC_joint_XX=42226;gnomADv4_1_AC_joint_XY=39029;gnomADv4_1_AF_grpmax_joint=0.642857;gnomADv4_1_AF_joint=0.534087;gnomADv4_1_AF_joint_XX=0.54296;gnomADv4_1_AF_joint_XY=0.524809;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=22330;gnomADv4_1_nhomalt_joint_XX=11797;gnomADv4_1_nhomalt_joint_XY=10533;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29111483 chr22_29111483_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.031;CADD_Rawscore=-0.009934;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-9874G>A|||||||rs134680||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29111483G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-9874G>A|||||||rs134680||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29111483G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-9874G>A|||||||rs134680||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29111483G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||1/1|ENST00000456740.1:n.103+98C>T|||||||rs134680||-1||||5||||||||Ensembl||G|G||||chr22:g.29111483G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-9874G>A|||||||rs134680||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29111483G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-9874G>A|||||||rs134680||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29111483G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-9874G>A|||||||rs134680||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29111483G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+12530G>A|||||||rs134680||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29111483G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+7986G>A|||||||rs134680||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29111483G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+12530G>A|||||||rs134680||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29111483G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|2|12|34|-29;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81867;gnomADv4_1_AC_joint_XX=42602;gnomADv4_1_AC_joint_XY=39265;gnomADv4_1_AF_grpmax_joint=0.642857;gnomADv4_1_AF_joint=0.542568;gnomADv4_1_AF_joint_XX=0.551668;gnomADv4_1_AF_joint_XY=0.533028;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=150888;gnomADv4_1_AN_joint_XX=77224;gnomADv4_1_AN_joint_XY=73664;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=22855;gnomADv4_1_nhomalt_joint_XX=12094;gnomADv4_1_nhomalt_joint_XY=10761;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29111592 chr22_29111592_C_A C A 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.743;CADD_Rawscore=-0.093882;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-9765C>A|||||||rs134681||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29111592C>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-9765C>A|||||||rs134681||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29111592C>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-9765C>A|||||||rs134681||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29111592C>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA|1/2||ENST00000456740.1:n.92G>T||92|||||rs134681||-1||||5||||||||Ensembl||C|C||||chr22:g.29111592C>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-9765C>A|||||||rs134681||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29111592C>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-9765C>A|||||||rs134681||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29111592C>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-9765C>A|||||||rs134681||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29111592C>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+12639C>A|||||||rs134681||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29111592C>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+8095C>A|||||||rs134681||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||C|C||||chr22:g.29111592C>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+12639C>A|||||||rs134681||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29111592C>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|-11|-6|-37|-6;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81663;gnomADv4_1_AC_joint_XX=42872;gnomADv4_1_AC_joint_XY=38791;gnomADv4_1_AF_grpmax_joint=0.739776;gnomADv4_1_AF_joint=0.594891;gnomADv4_1_AF_joint_XX=0.596837;gnomADv4_1_AF_joint_XY=0.592754;gnomADv4_1_AN_grpmax_joint=37510;gnomADv4_1_AN_joint=137274;gnomADv4_1_AN_joint_XX=71832;gnomADv4_1_AN_joint_XY=65442;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24394;gnomADv4_1_nhomalt_joint_XX=12984;gnomADv4_1_nhomalt_joint_XY=11410;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29111613 chr22_29111613_CAAAA_C CAAAA C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=38;CADDIndel_PHREDscore=0.389;CADDIndel_Rawscore=-0.256327;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-9723_353-9720del|||||||rs33999396||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||AAAA|AAAA||1|20|chr22:g.29111634_29111637del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-9723_353-9720del|||||||rs33999396||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||AAAA|AAAA||1|20|chr22:g.29111634_29111637del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-9723_347-9720del|||||||rs33999396||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||AAAA|AAAA||1|20|chr22:g.29111634_29111637del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA|1/2||ENST00000456740.1:n.67_70del||67-70|||||rs33999396||-1||||5||||||||Ensembl||AAAA|AAAA||||chr22:g.29111634_29111637del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-9723_353-9720del|||||||rs33999396||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||AAAA|AAAA|||20|chr22:g.29111634_29111637del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-9723_353-9720del|||||||rs33999396||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||AAAA|AAAA|||20|chr22:g.29111634_29111637del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-9723_353-9720del|||||||rs33999396||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||AAAA|AAAA|||20|chr22:g.29111634_29111637del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+12681_352+12684del|||||||rs33999396||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||AAAA|AAAA|||20|chr22:g.29111634_29111637del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+8137_37+8140del|||||||rs33999396||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||AAAA|AAAA|||20|chr22:g.29111634_29111637del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+12681_352+12684del|||||||rs33999396||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||AAAA|AAAA|||20|chr22:g.29111634_29111637del|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-27|14|-13|4;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34359;gnomADv4_1_AC_joint_XX=18934;gnomADv4_1_AC_joint_XY=15425;gnomADv4_1_AF_grpmax_joint=0.549296;gnomADv4_1_AF_joint=0.387834;gnomADv4_1_AF_joint_XX=0.391312;gnomADv4_1_AF_joint_XY=0.383649;gnomADv4_1_AN_grpmax_joint=142;gnomADv4_1_AN_joint=88592;gnomADv4_1_AN_joint_XX=48386;gnomADv4_1_AN_joint_XY=40206;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2500;gnomADv4_1_nhomalt_joint_XX=1259;gnomADv4_1_nhomalt_joint_XY=1241;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29111684 chr22_29111684_G_GA G GA 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=3.05;CADDIndel_Rawscore=0.279282;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-9661dup|||||||rs36050237||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|12|chr22:g.29111696dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-9661dup|||||||rs36050237||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|12|chr22:g.29111696dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-9661dup|||||||rs36050237||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|12|chr22:g.29111696dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs36050237|1|-1||||5||||||||Ensembl|||||||chr22:g.29111696dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-9661dup|||||||rs36050237||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||12|chr22:g.29111696dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-9661dup|||||||rs36050237||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||12|chr22:g.29111696dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-9661dup|||||||rs36050237||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||12|chr22:g.29111696dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+12743dup|||||||rs36050237||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||12|chr22:g.29111696dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.37+8199dup|||||||rs36050237||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||||||12|chr22:g.29111696dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+12743dup|||||||rs36050237||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||12|chr22:g.29111696dup|||||||||||||;SpliceAI=GA|KREMEN1|0.00|0.00|0.00|0.00|-39|0|-48|35;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78625;gnomADv4_1_AC_joint_XX=41373;gnomADv4_1_AC_joint_XY=37252;gnomADv4_1_AF_grpmax_joint=0.675361;gnomADv4_1_AF_joint=0.549341;gnomADv4_1_AF_joint_XX=0.558385;gnomADv4_1_AF_joint_XY=0.539634;gnomADv4_1_AN_grpmax_joint=38914;gnomADv4_1_AN_joint=143126;gnomADv4_1_AN_joint_XX=74094;gnomADv4_1_AN_joint_XY=69032;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22072;gnomADv4_1_nhomalt_joint_XX=11815;gnomADv4_1_nhomalt_joint_XY=10257;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29112912 chr22_29112912_C_T C T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.14;CADD_Rawscore=-0.52149;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-8445C>T|||||||rs540494841||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29112912C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-8445C>T|||||||rs540494841||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29112912C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-8445C>T|||||||rs540494841||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29112912C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs540494841|1229|-1||||5||||||||Ensembl||C|C||||chr22:g.29112912C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-8445C>T|||||||rs540494841||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29112912C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-8445C>T|||||||rs540494841||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29112912C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-8445C>T|||||||rs540494841||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29112912C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+13959C>T|||||||rs540494841||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29112912C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-8445C>T|||||||rs540494841||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||C|C||||chr22:g.29112912C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+13959C>T|||||||rs540494841||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29112912C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8T4ZQ|enhancer||||||||||rs540494841|||||||||||||||||||||chr22:g.29112912C>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|7|-19|-43|7;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2,ENSR22_8T4ZQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=169;gnomADv4_1_AC_joint_XX=86;gnomADv4_1_AC_joint_XY=83;gnomADv4_1_AF_grpmax_joint=0.00061883;gnomADv4_1_AF_joint=0.00112033;gnomADv4_1_AF_joint_XX=0.00111307;gnomADv4_1_AF_joint_XY=0.00112796;gnomADv4_1_AN_grpmax_joint=67870;gnomADv4_1_AN_joint=150848;gnomADv4_1_AN_joint_XX=77264;gnomADv4_1_AN_joint_XY=73584;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29112950 chr22_29112950_A_AG A AG 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=15.36;CADDIndel_Rawscore=1.71276;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-8405dup|||||||rs134682||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|2|chr22:g.29112952dup|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-8405dup|||||||rs134682||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|2|chr22:g.29112952dup|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-8405dup|||||||rs134682||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|2|chr22:g.29112952dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134682|1267|-1||||5||||||||Ensembl|||||||chr22:g.29112952dup|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-8405dup|||||||rs134682||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||2|chr22:g.29112952dup|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-8405dup|||||||rs134682||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||2|chr22:g.29112952dup|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-8405dup|||||||rs134682||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||2|chr22:g.29112952dup|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+13999dup|||||||rs134682||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||2|chr22:g.29112952dup|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-8405dup|||||||rs134682||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||||||2|chr22:g.29112952dup|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+13999dup|||||||rs134682||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||2|chr22:g.29112952dup|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8T4ZQ|enhancer||||||||||rs134682|||||||||||||||||||||chr22:g.29112952dup|||||||||||||;SpliceAI=AG|KREMEN1|0.00|0.00|0.00|0.00|-28|-31|0|50;TYPE=INDEL;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2,ENSR22_8T4ZQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152302;gnomADv4_1_AC_joint_XX=77827;gnomADv4_1_AC_joint_XY=74475;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999987;gnomADv4_1_AF_joint_XX=0.999987;gnomADv4_1_AF_joint_XY=0.999987;gnomADv4_1_AN_grpmax_joint=68032;gnomADv4_1_AN_joint=152304;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76150;gnomADv4_1_nhomalt_joint_XX=38913;gnomADv4_1_nhomalt_joint_XY=37237;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29113793 chr22_29113793_G_A G A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.085;CADD_Rawscore=-0.65515;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-7564G>A|||||||rs134683||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29113793G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-7564G>A|||||||rs134683||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29113793G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-7564G>A|||||||rs134683||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29113793G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134683|2110|-1||||5||||||||Ensembl||G|G||||chr22:g.29113793G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-7564G>A|||||||rs134683||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29113793G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-7564G>A|||||||rs134683||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29113793G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-7564G>A|||||||rs134683||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29113793G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+14840G>A|||||||rs134683||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29113793G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-7564G>A|||||||rs134683||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29113793G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+14840G>A|||||||rs134683||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29113793G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|15|1|15|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87006;gnomADv4_1_AC_joint_XX=45244;gnomADv4_1_AC_joint_XY=41762;gnomADv4_1_AF_grpmax_joint=0.728525;gnomADv4_1_AF_joint=0.572393;gnomADv4_1_AF_joint_XX=0.582156;gnomADv4_1_AF_joint_XY=0.562179;gnomADv4_1_AN_grpmax_joint=41466;gnomADv4_1_AN_joint=152004;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25956;gnomADv4_1_nhomalt_joint_XX=13716;gnomADv4_1_nhomalt_joint_XY=12240;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29114136 chr22_29114136_C_T C T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.617;CADD_Rawscore=0.107897;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-7221C>T|||||||rs134684||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29114136C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-7221C>T|||||||rs134684||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29114136C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-7221C>T|||||||rs134684||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29114136C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134684|2453|-1||||5||||||||Ensembl||C|C||||chr22:g.29114136C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-7221C>T|||||||rs134684||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29114136C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-7221C>T|||||||rs134684||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29114136C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-7221C>T|||||||rs134684||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29114136C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+15183C>T|||||||rs134684||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29114136C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-7221C>T|||||||rs134684||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||C|C||||chr22:g.29114136C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+15183C>T|||||||rs134684||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29114136C>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|5|-10|-37|-10;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=86633;gnomADv4_1_AC_joint_XX=45076;gnomADv4_1_AC_joint_XY=41557;gnomADv4_1_AF_grpmax_joint=0.728316;gnomADv4_1_AF_joint=0.572334;gnomADv4_1_AF_joint_XX=0.582137;gnomADv4_1_AF_joint_XY=0.562067;gnomADv4_1_AN_grpmax_joint=41206;gnomADv4_1_AN_joint=151368;gnomADv4_1_AN_joint_XX=77432;gnomADv4_1_AN_joint_XY=73936;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25850;gnomADv4_1_nhomalt_joint_XX=13668;gnomADv4_1_nhomalt_joint_XY=12182;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29114462 chr22_29114462_T_C T C 40 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.391;CADD_Rawscore=-0.254561;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-6895T>C|||||||rs12329960||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29114462T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-6895T>C|||||||rs12329960||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29114462T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-6895T>C|||||||rs12329960||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29114462T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs12329960|2779|-1||||5||||||||Ensembl||T|T||||chr22:g.29114462T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-6895T>C|||||||rs12329960||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29114462T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-6895T>C|||||||rs12329960||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29114462T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-6895T>C|||||||rs12329960||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29114462T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+15509T>C|||||||rs12329960||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29114462T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-6895T>C|||||||rs12329960||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29114462T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+15509T>C|||||||rs12329960||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29114462T>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-4|46|-4|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=107815;gnomADv4_1_AC_joint_XX=55922;gnomADv4_1_AC_joint_XY=51893;gnomADv4_1_AF_grpmax_joint=0.880803;gnomADv4_1_AF_joint=0.750581;gnomADv4_1_AF_joint_XX=0.751095;gnomADv4_1_AF_joint_XY=0.750029;gnomADv4_1_AN_grpmax_joint=38298;gnomADv4_1_AN_joint=143642;gnomADv4_1_AN_joint_XX=74454;gnomADv4_1_AN_joint_XY=69188;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=40878;gnomADv4_1_nhomalt_joint_XX=21232;gnomADv4_1_nhomalt_joint_XY=19646;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29114486 chr22_29114486_C_CAA;chr22_29114486_C_CAAA C CAA 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=23;CADDIndel_PHREDscore=1.005;CADDIndel_Rawscore=-0.01655;CSQ=AA|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-6852_353-6851dup|||||||rs134685||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|20|chr22:g.29114505_29114506dup|||||||||||||,AA|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-6852_353-6851dup|||||||rs134685||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|20|chr22:g.29114505_29114506dup|||||||||||||,AA|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-6852_347-6851dup|||||||rs134685||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|20|chr22:g.29114505_29114506dup|||||||||||||,AA|upstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134685|2803|-1||||5||||||||Ensembl|||||||chr22:g.29114505_29114506dup|||||||||||||,AA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-6852_353-6851dup|||||||rs134685||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||20|chr22:g.29114505_29114506dup|||||||||||||,AA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-6852_353-6851dup|||||||rs134685||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||20|chr22:g.29114505_29114506dup|||||||||||||,AA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-6852_353-6851dup|||||||rs134685||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||20|chr22:g.29114505_29114506dup|||||||||||||,AA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+15552_352+15553dup|||||||rs134685||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||20|chr22:g.29114505_29114506dup|||||||||||||,AA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-6852_38-6851dup|||||||rs134685||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||||||20|chr22:g.29114505_29114506dup|||||||||||||,AA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+15552_352+15553dup|||||||rs134685||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||20|chr22:g.29114505_29114506dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA,AA,AA,AA;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35685;gnomADv4_1_AC_joint_XX=20125;gnomADv4_1_AC_joint_XY=15560;gnomADv4_1_AF_grpmax_joint=0.513333;gnomADv4_1_AF_joint=0.406796;gnomADv4_1_AF_joint_XX=0.418451;gnomADv4_1_AF_joint_XY=0.392652;gnomADv4_1_AN_grpmax_joint=150;gnomADv4_1_AN_joint=87722;gnomADv4_1_AN_joint_XX=48094;gnomADv4_1_AN_joint_XY=39628;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8010;gnomADv4_1_nhomalt_joint_XX=4606;gnomADv4_1_nhomalt_joint_XY=3404;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29114486 chr22_29114486_C_CAA;chr22_29114486_C_CAAA C CAAA 23 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=12;CADDIndel_PHREDscore=0.991;CADDIndel_Rawscore=-0.020089;CSQ=AAA|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-6853_353-6851dup|||||||rs134685||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|20|chr22:g.29114504_29114506dup|||||||||||||,AAA|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-6853_353-6851dup|||||||rs134685||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|20|chr22:g.29114504_29114506dup|||||||||||||,AAA|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-6853_347-6851dup|||||||rs134685||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|20|chr22:g.29114504_29114506dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134685|2803|-1||||5||||||||Ensembl|||||||chr22:g.29114504_29114506dup|||||||||||||,AAA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-6853_353-6851dup|||||||rs134685||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||20|chr22:g.29114504_29114506dup|||||||||||||,AAA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-6853_353-6851dup|||||||rs134685||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||20|chr22:g.29114504_29114506dup|||||||||||||,AAA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-6853_353-6851dup|||||||rs134685||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||20|chr22:g.29114504_29114506dup|||||||||||||,AAA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+15551_352+15553dup|||||||rs134685||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||20|chr22:g.29114504_29114506dup|||||||||||||,AAA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-6853_38-6851dup|||||||rs134685||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||||||20|chr22:g.29114504_29114506dup|||||||||||||,AAA|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+15551_352+15553dup|||||||rs134685||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||20|chr22:g.29114504_29114506dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12591;gnomADv4_1_AC_joint_XX=6825;gnomADv4_1_AC_joint_XY=5766;gnomADv4_1_AF_grpmax_joint=0.314505;gnomADv4_1_AF_joint=0.143703;gnomADv4_1_AF_joint_XX=0.142034;gnomADv4_1_AF_joint_XY=0.145731;gnomADv4_1_AN_grpmax_joint=20448;gnomADv4_1_AN_joint=87618;gnomADv4_1_AN_joint_XX=48052;gnomADv4_1_AN_joint_XY=39566;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1591;gnomADv4_1_nhomalt_joint_XX=851;gnomADv4_1_nhomalt_joint_XY=740;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29114511 chr22_29114511_C_T C T 35 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.516;CADD_Rawscore=-0.185311;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-6846C>T|||||||rs134686||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29114511C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-6846C>T|||||||rs134686||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29114511C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-6846C>T|||||||rs134686||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29114511C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134686|2828|-1||||5||||||||Ensembl||C|C||||chr22:g.29114511C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-6846C>T|||||||rs134686||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29114511C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-6846C>T|||||||rs134686||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29114511C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-6846C>T|||||||rs134686||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29114511C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+15558C>T|||||||rs134686||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29114511C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-6846C>T|||||||rs134686||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||C|C||||chr22:g.29114511C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+15558C>T|||||||rs134686||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29114511C>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|-9|-3|-2|35;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=75952;gnomADv4_1_AC_joint_XX=40314;gnomADv4_1_AC_joint_XY=35638;gnomADv4_1_AF_grpmax_joint=0.712581;gnomADv4_1_AF_joint=0.558676;gnomADv4_1_AF_joint_XX=0.567883;gnomADv4_1_AF_joint_XY=0.548615;gnomADv4_1_AN_grpmax_joint=35784;gnomADv4_1_AN_joint=135950;gnomADv4_1_AN_joint_XX=70990;gnomADv4_1_AN_joint_XY=64960;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22089;gnomADv4_1_nhomalt_joint_XX=11849;gnomADv4_1_nhomalt_joint_XY=10240;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29115435 chr22_29115435_TA_T TA T 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.065;CADDIndel_Rawscore=-0.728984;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-5908del|||||||rs1556008397||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1|13|chr22:g.29115449del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-5908del|||||||rs1556008397||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1|13|chr22:g.29115449del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-5908del|||||||rs1556008397||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1|13|chr22:g.29115449del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs1556008397|3753|-1||||5||||||||Ensembl||A|A||||chr22:g.29115449del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-5908del|||||||rs1556008397||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A|||13|chr22:g.29115449del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-5908del|||||||rs1556008397||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A|||13|chr22:g.29115449del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-5908del|||||||rs1556008397||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A|||13|chr22:g.29115449del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+16496del|||||||rs1556008397||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A|||13|chr22:g.29115449del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-5908del|||||||rs1556008397||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||A|A|||13|chr22:g.29115449del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+16496del|||||||rs1556008397||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A|||13|chr22:g.29115449del|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|19|-50|25|-40;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=106;gnomADv4_1_AC_joint_XX=43;gnomADv4_1_AC_joint_XY=63;gnomADv4_1_AF_grpmax_joint=0.0107599;gnomADv4_1_AF_joint=0.00116972;gnomADv4_1_AF_joint_XX=0.000933281;gnomADv4_1_AF_joint_XY=0.00141427;gnomADv4_1_AN_grpmax_joint=2974;gnomADv4_1_AN_joint=90620;gnomADv4_1_AN_joint_XX=46074;gnomADv4_1_AN_joint_XY=44546;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29115444 chr22_29115444_A_AC A AC 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.674;CADDIndel_Rawscore=-0.118541;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-5913_353-5912insC|||||||rs35967716||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1||chr22:g.29115444_29115445insC|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-5913_353-5912insC|||||||rs35967716||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1||chr22:g.29115444_29115445insC|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-5913_347-5912insC|||||||rs35967716||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1||chr22:g.29115444_29115445insC|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs35967716|3761|-1||||5||||||||Ensembl|||||||chr22:g.29115444_29115445insC|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-5913_353-5912insC|||||||rs35967716||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq|||||||chr22:g.29115444_29115445insC|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-5913_353-5912insC|||||||rs35967716||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq|||||||chr22:g.29115444_29115445insC|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-5913_353-5912insC|||||||rs35967716||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq|||||||chr22:g.29115444_29115445insC|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+16491_352+16492insC|||||||rs35967716||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq|||||||chr22:g.29115444_29115445insC|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-5913_38-5912insC|||||||rs35967716||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq|||||||chr22:g.29115444_29115445insC|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+16491_352+16492insC|||||||rs35967716||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq|||||||chr22:g.29115444_29115445insC|||||||||||||;SpliceAI=AC|KREMEN1|0.00|0.00|0.00|0.00|43|7|11|-49;TYPE=INDEL;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73796;gnomADv4_1_AC_joint_XX=38416;gnomADv4_1_AC_joint_XY=35380;gnomADv4_1_AF_grpmax_joint=0.65493;gnomADv4_1_AF_joint=0.516692;gnomADv4_1_AF_joint_XX=0.525915;gnomADv4_1_AF_joint_XY=0.507037;gnomADv4_1_AN_grpmax_joint=284;gnomADv4_1_AN_joint=142824;gnomADv4_1_AN_joint_XX=73046;gnomADv4_1_AN_joint_XY=69778;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=18465;gnomADv4_1_nhomalt_joint_XX=9796;gnomADv4_1_nhomalt_joint_XY=8669;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29115449 chr22_29115449_A_AC A AC 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.221;CADDIndel_Rawscore=-0.400317;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-5906dup|||||||rs134687||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|2|chr22:g.29115451dup|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-5906dup|||||||rs134687||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|2|chr22:g.29115451dup|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-5906dup|||||||rs134687||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|2|chr22:g.29115451dup|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134687|3766|-1||||5||||||||Ensembl|||||||chr22:g.29115451dup|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-5906dup|||||||rs134687||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||2|chr22:g.29115451dup|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-5906dup|||||||rs134687||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||2|chr22:g.29115451dup|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-5906dup|||||||rs134687||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||2|chr22:g.29115451dup|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+16498dup|||||||rs134687||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||2|chr22:g.29115451dup|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-5906dup|||||||rs134687||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||||||2|chr22:g.29115451dup|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+16498dup|||||||rs134687||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||2|chr22:g.29115451dup|||||||||||||;SpliceAI=AC|KREMEN1|0.00|0.00|0.00|0.00|38|2|38|36;TYPE=INDEL;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73873;gnomADv4_1_AC_joint_XX=38463;gnomADv4_1_AC_joint_XY=35410;gnomADv4_1_AF_grpmax_joint=0.636986;gnomADv4_1_AF_joint=0.487514;gnomADv4_1_AF_joint_XX=0.496246;gnomADv4_1_AF_joint_XY=0.478371;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151530;gnomADv4_1_AN_joint_XX=77508;gnomADv4_1_AN_joint_XY=74022;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=18508;gnomADv4_1_nhomalt_joint_XX=9823;gnomADv4_1_nhomalt_joint_XY=8685;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29115529 chr22_29115529_A_G A G 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=8.468;CADD_Rawscore=0.819298;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-5828A>G|||||||rs134688||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29115529A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-5828A>G|||||||rs134688||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29115529A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-5828A>G|||||||rs134688||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29115529A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134688|3846|-1||||5||||||||Ensembl||A|A||||chr22:g.29115529A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-5828A>G|||||||rs134688||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29115529A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-5828A>G|||||||rs134688||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29115529A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-5828A>G|||||||rs134688||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29115529A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+16576A>G|||||||rs134688||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29115529A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-5828A>G|||||||rs134688||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||A|A||||chr22:g.29115529A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+16576A>G|||||||rs134688||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29115529A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-42|2|49|-44;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87116;gnomADv4_1_AC_joint_XX=45285;gnomADv4_1_AC_joint_XY=41831;gnomADv4_1_AF_grpmax_joint=0.729713;gnomADv4_1_AF_joint=0.573071;gnomADv4_1_AF_joint_XX=0.582669;gnomADv4_1_AF_joint_XY=0.563032;gnomADv4_1_AN_grpmax_joint=41456;gnomADv4_1_AN_joint=152016;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26028;gnomADv4_1_nhomalt_joint_XX=13744;gnomADv4_1_nhomalt_joint_XY=12284;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29115632 chr22_29115632_G_A G A 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.162;CADD_Rawscore=0.184604;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-5725G>A|||||||rs134689||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29115632G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-5725G>A|||||||rs134689||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29115632G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-5725G>A|||||||rs134689||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29115632G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134689|3949|-1||||5||||||||Ensembl||G|G||||chr22:g.29115632G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-5725G>A|||||||rs134689||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29115632G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-5725G>A|||||||rs134689||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29115632G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-5725G>A|||||||rs134689||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29115632G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+16679G>A|||||||rs134689||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29115632G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-5725G>A|||||||rs134689||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29115632G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+16679G>A|||||||rs134689||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29115632G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|3|-6|6|-6;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87027;gnomADv4_1_AC_joint_XX=45251;gnomADv4_1_AC_joint_XY=41776;gnomADv4_1_AF_grpmax_joint=0.729047;gnomADv4_1_AF_joint=0.572712;gnomADv4_1_AF_joint_XX=0.582336;gnomADv4_1_AF_joint_XY=0.56264;gnomADv4_1_AN_grpmax_joint=41450;gnomADv4_1_AN_joint=151956;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25979;gnomADv4_1_nhomalt_joint_XX=13725;gnomADv4_1_nhomalt_joint_XY=12254;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29115741 chr22_29115741_G_A G A 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=11.15;CADD_Rawscore=1.07651;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-5616G>A|||||||rs134690||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29115741G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-5616G>A|||||||rs134690||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29115741G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-5616G>A|||||||rs134690||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29115741G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134690|4058|-1||||5||||||||Ensembl||G|G||||chr22:g.29115741G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-5616G>A|||||||rs134690||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29115741G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-5616G>A|||||||rs134690||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29115741G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-5616G>A|||||||rs134690||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29115741G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+16788G>A|||||||rs134690||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29115741G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-5616G>A|||||||rs134690||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29115741G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+16788G>A|||||||rs134690||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29115741G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|-14|37|3|-41;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87121;gnomADv4_1_AC_joint_XX=45296;gnomADv4_1_AC_joint_XY=41825;gnomADv4_1_AF_grpmax_joint=0.72896;gnomADv4_1_AF_joint=0.57275;gnomADv4_1_AF_joint_XX=0.58251;gnomADv4_1_AF_joint_XY=0.562542;gnomADv4_1_AN_grpmax_joint=41492;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26011;gnomADv4_1_nhomalt_joint_XX=13740;gnomADv4_1_nhomalt_joint_XY=12271;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29115950 chr22_29115950_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.98;CADD_Rawscore=0.363499;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-5407G>A|||||||rs134691||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29115950G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-5407G>A|||||||rs134691||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29115950G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-5407G>A|||||||rs134691||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29115950G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000226772|Transcript|ENST00000456740|lncRNA||||||||||rs134691|4267|-1||||5||||||||Ensembl||G|G||||chr22:g.29115950G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-5407G>A|||||||rs134691||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29115950G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-5407G>A|||||||rs134691||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29115950G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-5407G>A|||||||rs134691||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29115950G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+16997G>A|||||||rs134691||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29115950G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-5407G>A|||||||rs134691||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29115950G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+16997G>A|||||||rs134691||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29115950G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|-47|0|33|-45;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000456740,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000226772,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84428;gnomADv4_1_AC_joint_XX=43878;gnomADv4_1_AC_joint_XY=40550;gnomADv4_1_AF_grpmax_joint=0.668999;gnomADv4_1_AF_joint=0.555579;gnomADv4_1_AF_joint_XX=0.564783;gnomADv4_1_AF_joint_XY=0.545951;gnomADv4_1_AN_grpmax_joint=41450;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24204;gnomADv4_1_nhomalt_joint_XX=12785;gnomADv4_1_nhomalt_joint_XY=11419;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29117299 chr22_29117299_A_G A G 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.894;CADD_Rawscore=-0.046806;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-4058A>G|||||||rs1978046||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29117299A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-4058A>G|||||||rs1978046||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29117299A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-4058A>G|||||||rs1978046||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29117299A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs1978046|4142|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||A|A||1||chr22:g.29117299A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-4058A>G|||||||rs1978046||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29117299A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-4058A>G|||||||rs1978046||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29117299A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-4058A>G|||||||rs1978046||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29117299A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+18346A>G|||||||rs1978046||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29117299A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-4058A>G|||||||rs1978046||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||A|A||||chr22:g.29117299A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+18346A>G|||||||rs1978046||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29117299A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-43|2|37|-3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=76582;gnomADv4_1_AC_joint_XX=38277;gnomADv4_1_AC_joint_XY=38305;gnomADv4_1_AF_grpmax_joint=0.910969;gnomADv4_1_AF_joint=0.50369;gnomADv4_1_AF_joint_XX=0.492435;gnomADv4_1_AF_joint_XY=0.515462;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=20091;gnomADv4_1_nhomalt_joint_XX=9828;gnomADv4_1_nhomalt_joint_XY=10263;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29117338 chr22_29117338_T_C T C 55 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.839;CADD_Rawscore=-0.06284;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-4019T>C|||||||rs4347951||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29117338T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-4019T>C|||||||rs4347951||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29117338T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-4019T>C|||||||rs4347951||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29117338T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs4347951|4103|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||T|T||1||chr22:g.29117338T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-4019T>C|||||||rs4347951||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29117338T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-4019T>C|||||||rs4347951||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29117338T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-4019T>C|||||||rs4347951||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29117338T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+18385T>C|||||||rs4347951||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29117338T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-4019T>C|||||||rs4347951||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29117338T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+18385T>C|||||||rs4347951||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29117338T>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|14|-2|14|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40214;gnomADv4_1_AC_joint_XX=20393;gnomADv4_1_AC_joint_XY=19821;gnomADv4_1_AF_grpmax_joint=0.376441;gnomADv4_1_AF_joint=0.264413;gnomADv4_1_AF_joint_XX=0.262343;gnomADv4_1_AF_joint_XY=0.266576;gnomADv4_1_AN_grpmax_joint=15272;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=5944;gnomADv4_1_nhomalt_joint_XX=2963;gnomADv4_1_nhomalt_joint_XY=2981;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29117492 chr22_29117492_G_A G A 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=4.125;CADD_Rawscore=0.37633;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-3865G>A|||||||rs4521152||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29117492G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-3865G>A|||||||rs4521152||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29117492G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-3865G>A|||||||rs4521152||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29117492G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs4521152|3949|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||G|G||1||chr22:g.29117492G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-3865G>A|||||||rs4521152||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29117492G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-3865G>A|||||||rs4521152||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29117492G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-3865G>A|||||||rs4521152||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29117492G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+18539G>A|||||||rs4521152||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29117492G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-3865G>A|||||||rs4521152||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29117492G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+18539G>A|||||||rs4521152||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29117492G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|2|-44|16|-22;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54377;gnomADv4_1_AC_joint_XX=27209;gnomADv4_1_AC_joint_XY=27168;gnomADv4_1_AF_grpmax_joint=0.637293;gnomADv4_1_AF_joint=0.359118;gnomADv4_1_AF_joint_XX=0.351202;gnomADv4_1_AF_joint_XY=0.367413;gnomADv4_1_AN_grpmax_joint=5084;gnomADv4_1_AN_joint=151418;gnomADv4_1_AN_joint_XX=77474;gnomADv4_1_AN_joint_XY=73944;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11203;gnomADv4_1_nhomalt_joint_XX=5535;gnomADv4_1_nhomalt_joint_XY=5668;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29117499 chr22_29117499_G_A G A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.795;CADD_Rawscore=-0.076747;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-3858G>A|||||||rs2881801||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29117499G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-3858G>A|||||||rs2881801||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29117499G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-3858G>A|||||||rs2881801||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29117499G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs2881801|3942|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||G|G||1||chr22:g.29117499G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-3858G>A|||||||rs2881801||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29117499G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-3858G>A|||||||rs2881801||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29117499G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-3858G>A|||||||rs2881801||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29117499G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+18546G>A|||||||rs2881801||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29117499G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-3858G>A|||||||rs2881801||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29117499G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+18546G>A|||||||rs2881801||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29117499G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|2|40|2|9;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54384;gnomADv4_1_AC_joint_XX=27231;gnomADv4_1_AC_joint_XY=27153;gnomADv4_1_AF_grpmax_joint=0.636865;gnomADv4_1_AF_joint=0.359307;gnomADv4_1_AF_joint_XX=0.35154;gnomADv4_1_AF_joint_XY=0.367449;gnomADv4_1_AN_grpmax_joint=5078;gnomADv4_1_AN_joint=151358;gnomADv4_1_AN_joint_XX=77462;gnomADv4_1_AN_joint_XY=73896;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11210;gnomADv4_1_nhomalt_joint_XX=5545;gnomADv4_1_nhomalt_joint_XY=5665;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29117539 chr22_29117539_C_G C G 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=2.373;CADD_Rawscore=0.209538;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-3818C>G|||||||rs4330194||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29117539C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-3818C>G|||||||rs4330194||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29117539C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-3818C>G|||||||rs4330194||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29117539C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs4330194|3902|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||C|C||1||chr22:g.29117539C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-3818C>G|||||||rs4330194||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29117539C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-3818C>G|||||||rs4330194||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29117539C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-3818C>G|||||||rs4330194||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29117539C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+18586C>G|||||||rs4330194||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29117539C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-3818C>G|||||||rs4330194||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||C|C||||chr22:g.29117539C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+18586C>G|||||||rs4330194||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29117539C>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|0|-29|-1|-31;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54797;gnomADv4_1_AC_joint_XX=27507;gnomADv4_1_AC_joint_XY=27290;gnomADv4_1_AF_grpmax_joint=0.63749;gnomADv4_1_AF_joint=0.36262;gnomADv4_1_AF_joint_XX=0.355369;gnomADv4_1_AF_joint_XY=0.370235;gnomADv4_1_AN_grpmax_joint=5084;gnomADv4_1_AN_joint=151114;gnomADv4_1_AN_joint_XX=77404;gnomADv4_1_AN_joint_XY=73710;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11403;gnomADv4_1_nhomalt_joint_XX=5657;gnomADv4_1_nhomalt_joint_XY=5746;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29117546 chr22_29117546_A_G A G 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.671;CADD_Rawscore=-0.119453;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-3811A>G|||||||rs4330195||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29117546A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-3811A>G|||||||rs4330195||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29117546A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-3811A>G|||||||rs4330195||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29117546A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs4330195|3895|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||A|A||1||chr22:g.29117546A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-3811A>G|||||||rs4330195||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29117546A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-3811A>G|||||||rs4330195||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29117546A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-3811A>G|||||||rs4330195||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29117546A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+18593A>G|||||||rs4330195||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29117546A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-3811A>G|||||||rs4330195||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||A|A||||chr22:g.29117546A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+18593A>G|||||||rs4330195||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29117546A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-7|26|34|-38;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54767;gnomADv4_1_AC_joint_XX=27495;gnomADv4_1_AC_joint_XY=27272;gnomADv4_1_AF_grpmax_joint=0.637097;gnomADv4_1_AF_joint=0.36223;gnomADv4_1_AF_joint_XX=0.355077;gnomADv4_1_AF_joint_XY=0.36974;gnomADv4_1_AN_grpmax_joint=5084;gnomADv4_1_AN_joint=151194;gnomADv4_1_AN_joint_XX=77434;gnomADv4_1_AN_joint_XY=73760;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11409;gnomADv4_1_nhomalt_joint_XX=5661;gnomADv4_1_nhomalt_joint_XY=5748;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29117567 chr22_29117567_CA_C CA C 28 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=28;CADDIndel_PHREDscore=0.4;CADDIndel_Rawscore=-0.249334;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-3776del|||||||rs35241450||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1|13|chr22:g.29117581del|||1||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-3776del|||||||rs35241450||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1|13|chr22:g.29117581del|||1||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-3776del|||||||rs35241450||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1|13|chr22:g.29117581del|||1||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs35241450|3873|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||A|A||1||chr22:g.29117581del|||1||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-3776del|||||||rs35241450||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A|||13|chr22:g.29117581del|||1||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-3776del|||||||rs35241450||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A|||13|chr22:g.29117581del|||1||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-3776del|||||||rs35241450||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A|||13|chr22:g.29117581del|||1||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+18628del|||||||rs35241450||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A|||13|chr22:g.29117581del|||1||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-3776del|||||||rs35241450||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||A|A|||13|chr22:g.29117581del|||1||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+18628del|||||||rs35241450||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A|||13|chr22:g.29117581del|||1||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|26|5|26|20;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=51248;gnomADv4_1_AC_joint_XX=25880;gnomADv4_1_AC_joint_XY=25368;gnomADv4_1_AF_grpmax_joint=0.648857;gnomADv4_1_AF_joint=0.37754;gnomADv4_1_AF_joint_XX=0.368871;gnomADv4_1_AF_joint_XY=0.386813;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=135742;gnomADv4_1_AN_joint_XX=70160;gnomADv4_1_AN_joint_XY=65582;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10232;gnomADv4_1_nhomalt_joint_XX=5127;gnomADv4_1_nhomalt_joint_XY=5105;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29117741 chr22_29117741_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.072;CADD_Rawscore=-0.699656;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-3616G>A|||||||rs5752867||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29117741G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-3616G>A|||||||rs5752867||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29117741G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-3616G>A|||||||rs5752867||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29117741G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs5752867|3700|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||G|G||1||chr22:g.29117741G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-3616G>A|||||||rs5752867||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29117741G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-3616G>A|||||||rs5752867||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29117741G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-3616G>A|||||||rs5752867||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29117741G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+18788G>A|||||||rs5752867||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29117741G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-3616G>A|||||||rs5752867||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29117741G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+18788G>A|||||||rs5752867||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29117741G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|-45|1|48|-45;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54884;gnomADv4_1_AC_joint_XX=27440;gnomADv4_1_AC_joint_XY=27444;gnomADv4_1_AF_grpmax_joint=0.637944;gnomADv4_1_AF_joint=0.360998;gnomADv4_1_AF_joint_XX=0.353017;gnomADv4_1_AF_joint_XY=0.369348;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152034;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11391;gnomADv4_1_nhomalt_joint_XX=5621;gnomADv4_1_nhomalt_joint_XY=5770;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29117851 chr22_29117851_T_A T A 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=4.318;CADD_Rawscore=0.39351;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-3506T>A|||||||rs739210||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29117851T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-3506T>A|||||||rs739210||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29117851T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-3506T>A|||||||rs739210||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29117851T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs739210|3590|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||T|T||1||chr22:g.29117851T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-3506T>A|||||||rs739210||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29117851T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-3506T>A|||||||rs739210||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29117851T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-3506T>A|||||||rs739210||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29117851T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.352+18898T>A|||||||rs739210||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29117851T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-3506T>A|||||||rs739210||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29117851T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.352+18898T>A|||||||rs739210||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29117851T>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|16|15|1|15;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54915;gnomADv4_1_AC_joint_XX=27458;gnomADv4_1_AC_joint_XY=27457;gnomADv4_1_AF_grpmax_joint=0.640015;gnomADv4_1_AF_joint=0.361003;gnomADv4_1_AF_joint_XX=0.353049;gnomADv4_1_AF_joint_XY=0.369324;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11400;gnomADv4_1_nhomalt_joint_XX=5624;gnomADv4_1_nhomalt_joint_XY=5776;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29118315 chr22_29118315_G_C G C 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=3.735;CADD_Rawscore=0.341731;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-3042G>C|||||||rs5752868||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29118315G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-3042G>C|||||||rs5752868||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29118315G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-3042G>C|||||||rs5752868||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29118315G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs5752868|3126|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||G|G||1||chr22:g.29118315G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-3042G>C|||||||rs5752868||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29118315G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-3042G>C|||||||rs5752868||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29118315G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-3042G>C|||||||rs5752868||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29118315G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-19027G>C|||||||rs5752868||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29118315G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-3042G>C|||||||rs5752868||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29118315G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-19027G>C|||||||rs5752868||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29118315G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FK3F|enhancer||||||||||rs5752868|||||||||||||||||||||chr22:g.29118315G>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|28|-17|28|-1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2,ENSR22_9FK3F;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54884;gnomADv4_1_AC_joint_XX=27434;gnomADv4_1_AC_joint_XY=27450;gnomADv4_1_AF_grpmax_joint=0.640178;gnomADv4_1_AF_joint=0.361103;gnomADv4_1_AF_joint_XX=0.352994;gnomADv4_1_AF_joint_XY=0.369587;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11400;gnomADv4_1_nhomalt_joint_XX=5622;gnomADv4_1_nhomalt_joint_XY=5778;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29118659 chr22_29118659_T_C T C 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=2.82;CADD_Rawscore=0.25694;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-2698T>C|||||||rs4823011||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29118659T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-2698T>C|||||||rs4823011||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29118659T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-2698T>C|||||||rs4823011||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29118659T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs4823011|2782|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||T|T||1||chr22:g.29118659T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-2698T>C|||||||rs4823011||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29118659T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-2698T>C|||||||rs4823011||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29118659T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-2698T>C|||||||rs4823011||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29118659T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-18683T>C|||||||rs4823011||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29118659T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-2698T>C|||||||rs4823011||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29118659T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-18683T>C|||||||rs4823011||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29118659T>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-36|29|-5|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55252;gnomADv4_1_AC_joint_XX=27622;gnomADv4_1_AC_joint_XY=27630;gnomADv4_1_AF_grpmax_joint=0.662718;gnomADv4_1_AF_joint=0.363816;gnomADv4_1_AF_joint_XX=0.355724;gnomADv4_1_AF_joint_XY=0.372282;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151868;gnomADv4_1_AN_joint_XX=77650;gnomADv4_1_AN_joint_XY=74218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11592;gnomADv4_1_nhomalt_joint_XX=5719;gnomADv4_1_nhomalt_joint_XY=5873;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29118700 chr22_29118700_G_A G A 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.247;CADD_Rawscore=0.039752;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-2657G>A|||||||rs4823012||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29118700G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-2657G>A|||||||rs4823012||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29118700G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-2657G>A|||||||rs4823012||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29118700G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs4823012|2741|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||G|G||1||chr22:g.29118700G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-2657G>A|||||||rs4823012||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29118700G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-2657G>A|||||||rs4823012||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29118700G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-2657G>A|||||||rs4823012||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29118700G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-18642G>A|||||||rs4823012||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29118700G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-2657G>A|||||||rs4823012||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29118700G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-18642G>A|||||||rs4823012||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29118700G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|24|-12|-13|47;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55053;gnomADv4_1_AC_joint_XX=27547;gnomADv4_1_AC_joint_XY=27506;gnomADv4_1_AF_grpmax_joint=0.659766;gnomADv4_1_AF_joint=0.362969;gnomADv4_1_AF_joint_XX=0.355134;gnomADv4_1_AF_joint_XY=0.371171;gnomADv4_1_AN_grpmax_joint=5120;gnomADv4_1_AN_joint=151674;gnomADv4_1_AN_joint_XX=77568;gnomADv4_1_AN_joint_XY=74106;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11479;gnomADv4_1_nhomalt_joint_XX=5670;gnomADv4_1_nhomalt_joint_XY=5809;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29118707 chr22_29118707_T_A T A 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=5.401;CADD_Rawscore=0.494018;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-2650T>A|||||||rs4820795||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29118707T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-2650T>A|||||||rs4820795||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29118707T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-2650T>A|||||||rs4820795||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29118707T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs4820795|2734|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||T|T||1||chr22:g.29118707T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-2650T>A|||||||rs4820795||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29118707T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-2650T>A|||||||rs4820795||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29118707T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-2650T>A|||||||rs4820795||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29118707T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-18635T>A|||||||rs4820795||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29118707T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-2650T>A|||||||rs4820795||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29118707T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-18635T>A|||||||rs4820795||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29118707T>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|17|-19|1|-7;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55159;gnomADv4_1_AC_joint_XX=27604;gnomADv4_1_AC_joint_XY=27555;gnomADv4_1_AF_grpmax_joint=0.659687;gnomADv4_1_AF_joint=0.363534;gnomADv4_1_AF_joint_XX=0.355795;gnomADv4_1_AF_joint_XY=0.371632;gnomADv4_1_AN_grpmax_joint=5110;gnomADv4_1_AN_joint=151730;gnomADv4_1_AN_joint_XX=77584;gnomADv4_1_AN_joint_XY=74146;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11510;gnomADv4_1_nhomalt_joint_XX=5691;gnomADv4_1_nhomalt_joint_XY=5819;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29118719 chr22_29118719_T_A T A 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=3.471;CADD_Rawscore=0.318107;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-2638T>A|||||||rs4823013||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29118719T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-2638T>A|||||||rs4823013||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29118719T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-2638T>A|||||||rs4823013||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29118719T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs4823013|2722|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||T|T||1||chr22:g.29118719T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-2638T>A|||||||rs4823013||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29118719T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-2638T>A|||||||rs4823013||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29118719T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-2638T>A|||||||rs4823013||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29118719T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-18623T>A|||||||rs4823013||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29118719T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-2638T>A|||||||rs4823013||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29118719T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-18623T>A|||||||rs4823013||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29118719T>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|-31|26|-1|4;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55132;gnomADv4_1_AC_joint_XX=27599;gnomADv4_1_AC_joint_XY=27533;gnomADv4_1_AF_grpmax_joint=0.658699;gnomADv4_1_AF_joint=0.363437;gnomADv4_1_AF_joint_XX=0.355657;gnomADv4_1_AF_joint_XY=0.371586;gnomADv4_1_AN_grpmax_joint=5104;gnomADv4_1_AN_joint=151696;gnomADv4_1_AN_joint_XX=77600;gnomADv4_1_AN_joint_XY=74096;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11503;gnomADv4_1_nhomalt_joint_XX=5686;gnomADv4_1_nhomalt_joint_XY=5817;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29118726 chr22_29118726_T_G T G 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=4.764;CADD_Rawscore=0.433956;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-2631T>G|||||||rs4823014||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29118726T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-2631T>G|||||||rs4823014||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29118726T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-2631T>G|||||||rs4823014||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29118726T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs4823014|2715|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||T|T||1||chr22:g.29118726T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-2631T>G|||||||rs4823014||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29118726T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-2631T>G|||||||rs4823014||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29118726T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-2631T>G|||||||rs4823014||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29118726T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-18616T>G|||||||rs4823014||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29118726T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-2631T>G|||||||rs4823014||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29118726T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-18616T>G|||||||rs4823014||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29118726T>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-38|29|-3|8;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55115;gnomADv4_1_AC_joint_XX=27593;gnomADv4_1_AC_joint_XY=27522;gnomADv4_1_AF_grpmax_joint=0.658565;gnomADv4_1_AF_joint=0.363344;gnomADv4_1_AF_joint_XX=0.355562;gnomADv4_1_AF_joint_XY=0.371497;gnomADv4_1_AN_grpmax_joint=5102;gnomADv4_1_AN_joint=151688;gnomADv4_1_AN_joint_XX=77604;gnomADv4_1_AN_joint_XY=74084;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11491;gnomADv4_1_nhomalt_joint_XX=5681;gnomADv4_1_nhomalt_joint_XY=5810;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29118968 chr22_29118968_T_G T G 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.688;CADD_Rawscore=-0.113353;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-2389T>G|||||||rs4823015||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29118968T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-2389T>G|||||||rs4823015||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29118968T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-2389T>G|||||||rs4823015||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29118968T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs4823015|2473|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||T|T||1||chr22:g.29118968T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-2389T>G|||||||rs4823015||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29118968T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-2389T>G|||||||rs4823015||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29118968T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-2389T>G|||||||rs4823015||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29118968T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-18374T>G|||||||rs4823015||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29118968T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-2389T>G|||||||rs4823015||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29118968T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-18374T>G|||||||rs4823015||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29118968T>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-1|44|-1|-2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77008;gnomADv4_1_AC_joint_XX=38541;gnomADv4_1_AC_joint_XY=38467;gnomADv4_1_AF_grpmax_joint=0.914014;gnomADv4_1_AF_joint=0.507413;gnomADv4_1_AF_joint_XX=0.496752;gnomADv4_1_AF_joint_XY=0.518563;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151766;gnomADv4_1_AN_joint_XX=77586;gnomADv4_1_AN_joint_XY=74180;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=20319;gnomADv4_1_nhomalt_joint_XX=9959;gnomADv4_1_nhomalt_joint_XY=10360;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29119191 chr22_29119191_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.855;CADD_Rawscore=-0.058245;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-2166G>A|||||||rs5762992||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29119191G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-2166G>A|||||||rs5762992||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29119191G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-2166G>A|||||||rs5762992||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29119191G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs5762992|2250|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||G|G||1||chr22:g.29119191G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-2166G>A|||||||rs5762992||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29119191G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-2166G>A|||||||rs5762992||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29119191G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-2166G>A|||||||rs5762992||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29119191G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-18151G>A|||||||rs5762992||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29119191G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-2166G>A|||||||rs5762992||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29119191G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-18151G>A|||||||rs5762992||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29119191G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|22|1|-25|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55303;gnomADv4_1_AC_joint_XX=27700;gnomADv4_1_AC_joint_XY=27603;gnomADv4_1_AF_grpmax_joint=0.641608;gnomADv4_1_AF_joint=0.364137;gnomADv4_1_AF_joint_XX=0.356766;gnomADv4_1_AF_joint_XY=0.371848;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=151874;gnomADv4_1_AN_joint_XX=77642;gnomADv4_1_AN_joint_XY=74232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11526;gnomADv4_1_nhomalt_joint_XX=5715;gnomADv4_1_nhomalt_joint_XY=5811;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29120049 chr22_29120049_T_A T A 10 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=10;CADD_PHREDscore=0.133;CADD_Rawscore=-0.534384;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-1308T>A|||||||rs55946744||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29120049T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-1308T>A|||||||rs55946744||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29120049T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-1308T>A|||||||rs55946744||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29120049T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs55946744|1392|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||T|T||1||chr22:g.29120049T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-1308T>A|||||||rs55946744||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29120049T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-1308T>A|||||||rs55946744||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29120049T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-1308T>A|||||||rs55946744||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29120049T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-17293T>A|||||||rs55946744||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29120049T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-1308T>A|||||||rs55946744||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29120049T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-17293T>A|||||||rs55946744||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29120049T>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FK42|open_chromatin_region||||||||||rs55946744|||||||||||||||||||||chr22:g.29120049T>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|2|9|21|-8;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2,ENSR22_9FK42;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32317;gnomADv4_1_AC_joint_XX=16694;gnomADv4_1_AC_joint_XY=15623;gnomADv4_1_AF_grpmax_joint=0.928571;gnomADv4_1_AF_joint=0.830088;gnomADv4_1_AF_joint_XX=0.830134;gnomADv4_1_AF_joint_XY=0.830039;gnomADv4_1_AN_grpmax_joint=1442;gnomADv4_1_AN_joint=38932;gnomADv4_1_AN_joint_XX=20110;gnomADv4_1_AN_joint_XY=18822;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13377;gnomADv4_1_nhomalt_joint_XX=6921;gnomADv4_1_nhomalt_joint_XY=6456;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29120443 chr22_29120443_T_A T A 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=11;CADD_PHREDscore=0.829;CADD_Rawscore=-0.06599;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-914T>A|||||||rs5997441||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29120443T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-914T>A|||||||rs5997441||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29120443T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-914T>A|||||||rs5997441||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29120443T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs5997441|998|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||T|T||1||chr22:g.29120443T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||||||||||rs5997441|4754|1||HGNC|HGNC:17550|3||||||||Ensembl||T|T||1||chr22:g.29120443T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-914T>A|||||||rs5997441||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29120443T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-914T>A|||||||rs5997441||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29120443T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-914T>A|||||||rs5997441||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29120443T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-16899T>A|||||||rs5997441||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29120443T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-914T>A|||||||rs5997441||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29120443T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-16899T>A|||||||rs5997441||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29120443T>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FK42|open_chromatin_region||||||||||rs5997441|||||||||||||||||||||chr22:g.29120443T>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|38|9|-8|-37;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2,ENSR22_9FK42;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23804;gnomADv4_1_AC_joint_XX=12934;gnomADv4_1_AC_joint_XY=10870;gnomADv4_1_AF_grpmax_joint=0.612527;gnomADv4_1_AF_joint=0.523487;gnomADv4_1_AF_joint_XX=0.528263;gnomADv4_1_AF_joint_XY=0.517915;gnomADv4_1_AN_grpmax_joint=8398;gnomADv4_1_AN_joint=45472;gnomADv4_1_AN_joint_XX=24484;gnomADv4_1_AN_joint_XY=20988;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7894;gnomADv4_1_nhomalt_joint_XX=4300;gnomADv4_1_nhomalt_joint_XY=3594;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29120464 chr22_29120464_C_G C G 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=18;CADD_PHREDscore=2.613;CADD_Rawscore=0.235719;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-893C>G|||||||rs6005996||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29120464C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-893C>G|||||||rs6005996||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29120464C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-893C>G|||||||rs6005996||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29120464C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs6005996|977|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||C|C||1||chr22:g.29120464C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||||||||||rs6005996|4733|1||HGNC|HGNC:17550|3||||||||Ensembl||C|C||1||chr22:g.29120464C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-893C>G|||||||rs6005996||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29120464C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-893C>G|||||||rs6005996||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29120464C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-893C>G|||||||rs6005996||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29120464C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-16878C>G|||||||rs6005996||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29120464C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-893C>G|||||||rs6005996||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||C|C||||chr22:g.29120464C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-16878C>G|||||||rs6005996||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29120464C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FK42|open_chromatin_region||||||||||rs6005996|||||||||||||||||||||chr22:g.29120464C>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|25|-41|0|29;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2,ENSR22_9FK42;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27713;gnomADv4_1_AC_joint_XX=15031;gnomADv4_1_AC_joint_XY=12682;gnomADv4_1_AF_grpmax_joint=0.837901;gnomADv4_1_AF_joint=0.819039;gnomADv4_1_AF_joint_XX=0.818682;gnomADv4_1_AF_joint_XY=0.819462;gnomADv4_1_AN_grpmax_joint=18464;gnomADv4_1_AN_joint=33836;gnomADv4_1_AN_joint_XX=18360;gnomADv4_1_AN_joint_XY=15476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11832;gnomADv4_1_nhomalt_joint_XX=6406;gnomADv4_1_nhomalt_joint_XY=5426;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29120501 chr22_29120501_A_T A T 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=11;CADD_PHREDscore=2.046;CADD_Rawscore=0.169931;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-856A>T|||||||rs76865167||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29120501A>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-856A>T|||||||rs76865167||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29120501A>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-856A>T|||||||rs76865167||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29120501A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs76865167|940|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||A|A||1||chr22:g.29120501A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||||||||||rs76865167|4696|1||HGNC|HGNC:17550|3||||||||Ensembl||A|A||1||chr22:g.29120501A>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-856A>T|||||||rs76865167||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29120501A>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-856A>T|||||||rs76865167||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29120501A>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-856A>T|||||||rs76865167||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29120501A>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-16841A>T|||||||rs76865167||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29120501A>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-856A>T|||||||rs76865167||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||A|A||||chr22:g.29120501A>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-16841A>T|||||||rs76865167||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29120501A>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|11|-20|-8|46;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13021;gnomADv4_1_AC_joint_XX=6839;gnomADv4_1_AC_joint_XY=6182;gnomADv4_1_AF_grpmax_joint=0.488858;gnomADv4_1_AF_joint=0.189479;gnomADv4_1_AF_joint_XX=0.188153;gnomADv4_1_AF_joint_XY=0.190968;gnomADv4_1_AN_grpmax_joint=1436;gnomADv4_1_AN_joint=68720;gnomADv4_1_AN_joint_XX=36348;gnomADv4_1_AN_joint_XY=32372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3155;gnomADv4_1_nhomalt_joint_XX=1633;gnomADv4_1_nhomalt_joint_XY=1522;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29121098 chr22_29121098_G_GT G GT 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=1.46;CADDIndel_Rawscore=0.081096;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||3/9|ENST00000327813.9:c.353-245dup|||||||rs11396782||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|14|chr22:g.29121112dup|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||3/8|ENST00000400335.9:c.353-245dup|||||||rs11396782||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|14|chr22:g.29121112dup|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||3/8|ENST00000407188.5:c.347-245dup|||||||rs11396782||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|14|chr22:g.29121112dup|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs11396782|342|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl|||||1||chr22:g.29121112dup|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||||||||||rs11396782|4098|1||HGNC|HGNC:17550|3||||||||Ensembl|||||1||chr22:g.29121112dup|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||3/8|NM_001039570.3:c.353-245dup|||||||rs11396782||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||14|chr22:g.29121112dup|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||3/9|NM_032045.5:c.353-245dup|||||||rs11396782||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||14|chr22:g.29121112dup|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||3/8|XM_011530429.3:c.353-245dup|||||||rs11396782||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||14|chr22:g.29121112dup|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-16230dup|||||||rs11396782||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||14|chr22:g.29121112dup|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||1/6|XM_011530431.3:c.38-245dup|||||||rs11396782||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||||||14|chr22:g.29121112dup|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-16230dup|||||||rs11396782||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||14|chr22:g.29121112dup|||||||||||||;SpliceAI=GT|KREMEN1|0.00|0.00|0.00|0.00|-49|1|12|27;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64986;gnomADv4_1_AC_joint_XX=33790;gnomADv4_1_AC_joint_XY=31196;gnomADv4_1_AF_grpmax_joint=0.595745;gnomADv4_1_AF_joint=0.443596;gnomADv4_1_AF_joint_XX=0.448286;gnomADv4_1_AF_joint_XY=0.438627;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=146498;gnomADv4_1_AN_joint_XX=75376;gnomADv4_1_AN_joint_XY=71122;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=15849;gnomADv4_1_nhomalt_joint_XX=8370;gnomADv4_1_nhomalt_joint_XY=7479;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29121690 chr22_29121690_G_A G A 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=5.258;CADD_Rawscore=0.480261;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||4/9|ENST00000327813.9:c.477+209G>A|||||||rs34688383||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29121690G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||4/8|ENST00000400335.9:c.477+209G>A|||||||rs34688383||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29121690G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||4/8|ENST00000407188.5:c.471+209G>A|||||||rs34688383||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29121690G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||1/3|ENST00000453585.1:c.41+209G>A|||||||rs34688383||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||G|G||1||chr22:g.29121690G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||||||||||rs34688383|3507|1||HGNC|HGNC:17550|3||||||||Ensembl||G|G||1||chr22:g.29121690G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||4/8|NM_001039570.3:c.477+209G>A|||||||rs34688383||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29121690G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||4/9|NM_032045.5:c.477+209G>A|||||||rs34688383||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29121690G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||4/8|XM_011530429.3:c.477+209G>A|||||||rs34688383||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29121690G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-15652G>A|||||||rs34688383||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29121690G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||2/6|XM_011530431.3:c.162+209G>A|||||||rs34688383||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29121690G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-15652G>A|||||||rs34688383||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29121690G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|43|29|5|-33;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=51094;gnomADv4_1_AC_joint_XX=26818;gnomADv4_1_AC_joint_XY=24276;gnomADv4_1_AF_grpmax_joint=0.5;gnomADv4_1_AF_joint=0.336043;gnomADv4_1_AF_joint_XX=0.345024;gnomADv4_1_AF_joint_XY=0.32665;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=10125;gnomADv4_1_nhomalt_joint_XX=5468;gnomADv4_1_nhomalt_joint_XY=4657;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29121999 chr22_29121999_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=9.849;CADD_Rawscore=0.958139;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||4/9|ENST00000327813.9:c.477+518C>T|||||||rs9613819||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29121999C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||4/8|ENST00000400335.9:c.477+518C>T|||||||rs9613819||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29121999C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||4/8|ENST00000407188.5:c.471+518C>T|||||||rs9613819||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29121999C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||1/3|ENST00000453585.1:c.41+518C>T|||||||rs9613819||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||C|C||1||chr22:g.29121999C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||||||||||rs9613819|3198|1||HGNC|HGNC:17550|3||||||||Ensembl||C|C||1||chr22:g.29121999C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||4/8|NM_001039570.3:c.477+518C>T|||||||rs9613819||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29121999C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||4/9|NM_032045.5:c.477+518C>T|||||||rs9613819||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29121999C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||4/8|XM_011530429.3:c.477+518C>T|||||||rs9613819||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29121999C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-15343C>T|||||||rs9613819||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29121999C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||2/6|XM_011530431.3:c.162+518C>T|||||||rs9613819||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||C|C||||chr22:g.29121999C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-15343C>T|||||||rs9613819||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29121999C>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|10|31|-36|10;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30922;gnomADv4_1_AC_joint_XX=15513;gnomADv4_1_AC_joint_XY=15409;gnomADv4_1_AF_grpmax_joint=0.328199;gnomADv4_1_AF_joint=0.203547;gnomADv4_1_AF_joint_XX=0.199694;gnomADv4_1_AF_joint_XY=0.207579;gnomADv4_1_AN_grpmax_joint=15256;gnomADv4_1_AN_joint=151916;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=3645;gnomADv4_1_nhomalt_joint_XX=1769;gnomADv4_1_nhomalt_joint_XY=1876;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29122228 chr22_29122228_T_C T C 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=12.47;CADD_Rawscore=1.23729;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||4/9|ENST00000327813.9:c.477+747T>C|||||||rs6005997||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29122228T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||4/8|ENST00000400335.9:c.477+747T>C|||||||rs6005997||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29122228T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||4/8|ENST00000407188.5:c.471+747T>C|||||||rs6005997||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29122228T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||1/3|ENST00000453585.1:c.41+747T>C|||||||rs6005997||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||T|T||1||chr22:g.29122228T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||||||||||rs6005997|2969|1||HGNC|HGNC:17550|3||||||||Ensembl||T|T||1||chr22:g.29122228T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||4/8|NM_001039570.3:c.477+747T>C|||||||rs6005997||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29122228T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||4/9|NM_032045.5:c.477+747T>C|||||||rs6005997||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29122228T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||4/8|XM_011530429.3:c.477+747T>C|||||||rs6005997||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29122228T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-15114T>C|||||||rs6005997||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29122228T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||2/6|XM_011530431.3:c.162+747T>C|||||||rs6005997||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29122228T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-15114T>C|||||||rs6005997||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29122228T>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-41|6|-41|6;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31165;gnomADv4_1_AC_joint_XX=15603;gnomADv4_1_AC_joint_XY=15562;gnomADv4_1_AF_grpmax_joint=0.312615;gnomADv4_1_AF_joint=0.204895;gnomADv4_1_AF_joint_XX=0.200718;gnomADv4_1_AF_joint_XY=0.209262;gnomADv4_1_AN_grpmax_joint=15268;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=3488;gnomADv4_1_nhomalt_joint_XX=1670;gnomADv4_1_nhomalt_joint_XY=1818;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29122808 chr22_29122808_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.167;CADD_Rawscore=-0.474367;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||4/9|ENST00000327813.9:c.477+1327T>C|||||||rs2157394||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29122808T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||4/8|ENST00000400335.9:c.477+1327T>C|||||||rs2157394||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29122808T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||4/8|ENST00000407188.5:c.471+1327T>C|||||||rs2157394||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29122808T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||1/3|ENST00000453585.1:c.41+1327T>C|||||||rs2157394||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||T|T||1||chr22:g.29122808T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||||||||||rs2157394|2389|1||HGNC|HGNC:17550|3||||||||Ensembl||T|T||1||chr22:g.29122808T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||4/8|NM_001039570.3:c.477+1327T>C|||||||rs2157394||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29122808T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||4/9|NM_032045.5:c.477+1327T>C|||||||rs2157394||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29122808T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||4/8|XM_011530429.3:c.477+1327T>C|||||||rs2157394||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29122808T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-14534T>C|||||||rs2157394||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29122808T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||2/6|XM_011530431.3:c.162+1327T>C|||||||rs2157394||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29122808T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-14534T>C|||||||rs2157394||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29122808T>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-15|17|-4|-42;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54042;gnomADv4_1_AC_joint_XX=27039;gnomADv4_1_AC_joint_XY=27003;gnomADv4_1_AF_grpmax_joint=0.602025;gnomADv4_1_AF_joint=0.357695;gnomADv4_1_AF_joint_XX=0.349793;gnomADv4_1_AF_joint_XY=0.365974;gnomADv4_1_AN_grpmax_joint=5136;gnomADv4_1_AN_joint=151084;gnomADv4_1_AN_joint_XX=77300;gnomADv4_1_AN_joint_XY=73784;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10972;gnomADv4_1_nhomalt_joint_XX=5419;gnomADv4_1_nhomalt_joint_XY=5553;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29122940 chr22_29122940_CA_C CA C 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=11;CADDIndel_PHREDscore=0.169;CADDIndel_Rawscore=-0.470898;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||4/9|ENST00000327813.9:c.477+1485del|||||||rs140855395||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1|25|chr22:g.29122966del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||4/8|ENST00000400335.9:c.477+1485del|||||||rs140855395||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1|25|chr22:g.29122966del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||4/8|ENST00000407188.5:c.471+1485del|||||||rs140855395||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1|25|chr22:g.29122966del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||1/3|ENST00000453585.1:c.41+1485del|||||||rs140855395||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||A|A||1|25|chr22:g.29122966del|||||||||||||,-|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||||||||||rs140855395|2256|1||HGNC|HGNC:17550|3||||||||Ensembl||A|A||1||chr22:g.29122966del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||4/8|NM_001039570.3:c.477+1485del|||||||rs140855395||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A|||25|chr22:g.29122966del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||4/9|NM_032045.5:c.477+1485del|||||||rs140855395||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A|||25|chr22:g.29122966del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||4/8|XM_011530429.3:c.477+1485del|||||||rs140855395||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A|||25|chr22:g.29122966del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-14376del|||||||rs140855395||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A|||25|chr22:g.29122966del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||2/6|XM_011530431.3:c.162+1485del|||||||rs140855395||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||A|A|||25|chr22:g.29122966del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-14376del|||||||rs140855395||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A|||25|chr22:g.29122966del|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|28|25|10|-15;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26297;gnomADv4_1_AC_joint_XX=14919;gnomADv4_1_AC_joint_XY=11378;gnomADv4_1_AF_grpmax_joint=0.515394;gnomADv4_1_AF_joint=0.46578;gnomADv4_1_AF_joint_XX=0.465201;gnomADv4_1_AF_joint_XY=0.466541;gnomADv4_1_AN_grpmax_joint=3378;gnomADv4_1_AN_joint=56458;gnomADv4_1_AN_joint_XX=32070;gnomADv4_1_AN_joint_XY=24388;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=803;gnomADv4_1_nhomalt_joint_XX=347;gnomADv4_1_nhomalt_joint_XY=456;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29123154 chr22_29123154_C_T C T 54 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.569;CADD_Rawscore=0.099862;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||4/9|ENST00000327813.9:c.477+1673C>T|||||||rs5752870||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29123154C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||4/8|ENST00000400335.9:c.477+1673C>T|||||||rs5752870||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29123154C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||4/8|ENST00000407188.5:c.471+1673C>T|||||||rs5752870||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29123154C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||1/3|ENST00000453585.1:c.41+1673C>T|||||||rs5752870||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||C|C||1||chr22:g.29123154C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||||||||||rs5752870|2043|1||HGNC|HGNC:17550|3||||||||Ensembl||C|C||1||chr22:g.29123154C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||4/8|NM_001039570.3:c.477+1673C>T|||||||rs5752870||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29123154C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||4/9|NM_032045.5:c.477+1673C>T|||||||rs5752870||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29123154C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||4/8|XM_011530429.3:c.477+1673C>T|||||||rs5752870||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29123154C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-14188C>T|||||||rs5752870||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29123154C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||2/6|XM_011530431.3:c.162+1673C>T|||||||rs5752870||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||C|C||||chr22:g.29123154C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-14188C>T|||||||rs5752870||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29123154C>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|-12|-17|-17|42;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82453;gnomADv4_1_AC_joint_XX=41419;gnomADv4_1_AC_joint_XY=41034;gnomADv4_1_AF_grpmax_joint=0.916958;gnomADv4_1_AF_joint=0.544956;gnomADv4_1_AF_joint_XX=0.535171;gnomADv4_1_AF_joint_XY=0.555204;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151302;gnomADv4_1_AN_joint_XX=77394;gnomADv4_1_AN_joint_XY=73908;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23379;gnomADv4_1_nhomalt_joint_XX=11570;gnomADv4_1_nhomalt_joint_XY=11809;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29123387 chr22_29123387_T_C T C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.22;CADD_Rawscore=-0.401798;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||4/9|ENST00000327813.9:c.478-1876T>C|||||||rs5762994||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29123387T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||4/8|ENST00000400335.9:c.478-1876T>C|||||||rs5762994||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29123387T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||4/8|ENST00000407188.5:c.472-1876T>C|||||||rs5762994||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29123387T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||1/3|ENST00000453585.1:c.42-1876T>C|||||||rs5762994||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||T|T||1||chr22:g.29123387T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||||||||||rs5762994|1810|1||HGNC|HGNC:17550|3||||||||Ensembl||T|T||1||chr22:g.29123387T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||4/8|NM_001039570.3:c.478-1876T>C|||||||rs5762994||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29123387T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||4/9|NM_032045.5:c.478-1876T>C|||||||rs5762994||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29123387T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||4/8|XM_011530429.3:c.478-1876T>C|||||||rs5762994||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29123387T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-13955T>C|||||||rs5762994||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29123387T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||2/6|XM_011530431.3:c.163-1876T>C|||||||rs5762994||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29123387T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-13955T>C|||||||rs5762994||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29123387T>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-10|30|-49|12;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60786;gnomADv4_1_AC_joint_XX=30600;gnomADv4_1_AC_joint_XY=30186;gnomADv4_1_AF_grpmax_joint=0.624555;gnomADv4_1_AF_joint=0.414706;gnomADv4_1_AF_joint_XX=0.407609;gnomADv4_1_AF_joint_XY=0.422158;gnomADv4_1_AN_grpmax_joint=5058;gnomADv4_1_AN_joint=146576;gnomADv4_1_AN_joint_XX=75072;gnomADv4_1_AN_joint_XY=71504;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12801;gnomADv4_1_nhomalt_joint_XX=6374;gnomADv4_1_nhomalt_joint_XY=6427;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29124422 chr22_29124422_A_C A C 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=3.498;CADD_Rawscore=0.320532;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||4/9|ENST00000327813.9:c.478-841A>C|||||||rs132268||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29124422A>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||4/8|ENST00000400335.9:c.478-841A>C|||||||rs132268||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29124422A>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||4/8|ENST00000407188.5:c.472-841A>C|||||||rs132268||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29124422A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||1/3|ENST00000453585.1:c.42-841A>C|||||||rs132268||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||A|A||1||chr22:g.29124422A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||||||||||rs132268|775|1||HGNC|HGNC:17550|3||||||||Ensembl||A|A||1||chr22:g.29124422A>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||4/8|NM_001039570.3:c.478-841A>C|||||||rs132268||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29124422A>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||4/9|NM_032045.5:c.478-841A>C|||||||rs132268||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29124422A>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||4/8|XM_011530429.3:c.478-841A>C|||||||rs132268||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29124422A>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-12920A>C|||||||rs132268||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29124422A>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||2/6|XM_011530431.3:c.163-841A>C|||||||rs132268||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||A|A||||chr22:g.29124422A>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-12920A>C|||||||rs132268||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29124422A>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|22|-2|-29|22;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=110542;gnomADv4_1_AC_joint_XX=56096;gnomADv4_1_AC_joint_XY=54446;gnomADv4_1_AF_grpmax_joint=0.926749;gnomADv4_1_AF_joint=0.726973;gnomADv4_1_AF_joint_XX=0.721659;gnomADv4_1_AF_joint_XY=0.73253;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=40702;gnomADv4_1_nhomalt_joint_XX=20497;gnomADv4_1_nhomalt_joint_XY=20205;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29126115 chr22_29126115_CA_C CA C 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=0.258;CADDIndel_Rawscore=-0.360299;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||5/9|ENST00000327813.9:c.631+712del|||||||rs5844835||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1|12|chr22:g.29126128del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||5/8|ENST00000400335.9:c.631+712del|||||||rs5844835||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1|12|chr22:g.29126128del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||5/8|ENST00000407188.5:c.625+712del|||||||rs5844835||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1|12|chr22:g.29126128del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||2/3|ENST00000453585.1:c.195+712del|||||||rs5844835||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||A|A||1|12|chr22:g.29126128del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||1/2|ENST00000474001.1:n.220+712del|||||||rs5844835||1||HGNC|HGNC:17550|3||||||||Ensembl||A|A||1|12|chr22:g.29126128del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||5/8|NM_001039570.3:c.631+712del|||||||rs5844835||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A|||12|chr22:g.29126128del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||5/9|NM_032045.5:c.631+712del|||||||rs5844835||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A|||12|chr22:g.29126128del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||5/8|XM_011530429.3:c.631+712del|||||||rs5844835||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A|||12|chr22:g.29126128del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-11214del|||||||rs5844835||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A|||12|chr22:g.29126128del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||3/6|XM_011530431.3:c.316+712del|||||||rs5844835||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||A|A|||12|chr22:g.29126128del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-11214del|||||||rs5844835||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A|||12|chr22:g.29126128del|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-1|42|-49|37;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=128682;gnomADv4_1_AC_joint_XX=66368;gnomADv4_1_AC_joint_XY=62314;gnomADv4_1_AF_grpmax_joint=0.995989;gnomADv4_1_AF_joint=0.896189;gnomADv4_1_AF_joint_XX=0.896477;gnomADv4_1_AF_joint_XY=0.895882;gnomADv4_1_AN_grpmax_joint=4986;gnomADv4_1_AN_joint=143588;gnomADv4_1_AN_joint_XX=74032;gnomADv4_1_AN_joint_XY=69556;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=57752;gnomADv4_1_nhomalt_joint_XX=29786;gnomADv4_1_nhomalt_joint_XY=27966;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29127065 chr22_29127065_G_A G A 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.902;CADD_Rawscore=-0.044544;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||5/9|ENST00000327813.9:c.631+1649G>A|||||||rs132272||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29127065G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||5/8|ENST00000400335.9:c.631+1649G>A|||||||rs132272||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29127065G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||5/8|ENST00000407188.5:c.625+1649G>A|||||||rs132272||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29127065G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||2/3|ENST00000453585.1:c.195+1649G>A|||||||rs132272||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||G|G||1||chr22:g.29127065G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||1/2|ENST00000474001.1:n.220+1649G>A|||||||rs132272||1||HGNC|HGNC:17550|3||||||||Ensembl||G|G||1||chr22:g.29127065G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||5/8|NM_001039570.3:c.631+1649G>A|||||||rs132272||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29127065G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||5/9|NM_032045.5:c.631+1649G>A|||||||rs132272||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29127065G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||5/8|XM_011530429.3:c.631+1649G>A|||||||rs132272||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29127065G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-10277G>A|||||||rs132272||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29127065G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||3/6|XM_011530431.3:c.316+1649G>A|||||||rs132272||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29127065G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-10277G>A|||||||rs132272||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29127065G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|-21|1|-21|20;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149012;gnomADv4_1_AC_joint_XX=76123;gnomADv4_1_AC_joint_XY=72889;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.978321;gnomADv4_1_AF_joint_XX=0.978093;gnomADv4_1_AF_joint_XY=0.97856;gnomADv4_1_AN_grpmax_joint=5188;gnomADv4_1_AN_joint=152314;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72902;gnomADv4_1_nhomalt_joint_XX=37228;gnomADv4_1_nhomalt_joint_XY=35674;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29127216 chr22_29127216_C_G C G 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.727;CADD_Rawscore=0.125133;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||5/9|ENST00000327813.9:c.631+1800C>G|||||||rs132273||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29127216C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||5/8|ENST00000400335.9:c.631+1800C>G|||||||rs132273||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29127216C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||5/8|ENST00000407188.5:c.625+1800C>G|||||||rs132273||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29127216C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||2/3|ENST00000453585.1:c.195+1800C>G|||||||rs132273||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||C|C||1||chr22:g.29127216C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||1/2|ENST00000474001.1:n.220+1800C>G|||||||rs132273||1||HGNC|HGNC:17550|3||||||||Ensembl||C|C||1||chr22:g.29127216C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||5/8|NM_001039570.3:c.631+1800C>G|||||||rs132273||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29127216C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||5/9|NM_032045.5:c.631+1800C>G|||||||rs132273||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29127216C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||5/8|XM_011530429.3:c.631+1800C>G|||||||rs132273||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29127216C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-10126C>G|||||||rs132273||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29127216C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||3/6|XM_011530431.3:c.316+1800C>G|||||||rs132273||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||C|C||||chr22:g.29127216C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-10126C>G|||||||rs132273||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29127216C>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-36|-4|-38|-4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=144037;gnomADv4_1_AC_joint_XX=73557;gnomADv4_1_AC_joint_XY=70480;gnomADv4_1_AF_grpmax_joint=0.96185;gnomADv4_1_AF_joint=0.946143;gnomADv4_1_AF_joint_XX=0.94539;gnomADv4_1_AF_joint_XY=0.94693;gnomADv4_1_AN_grpmax_joint=5190;gnomADv4_1_AN_joint=152236;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=68181;gnomADv4_1_nhomalt_joint_XX=34779;gnomADv4_1_nhomalt_joint_XY=33402;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29129138 chr22_29129138_C_T C T 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.63;CADD_Rawscore=0.110029;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||5/9|ENST00000327813.9:c.631+3722C>T|||||||rs132274||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29129138C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|Transcript|ENST00000364001|snRNA||||||||||rs132274|4876|1||HGNC|HGNC:47773|||||||||Ensembl||C|C||||chr22:g.29129138C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||5/8|ENST00000400335.9:c.631+3722C>T|||||||rs132274||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29129138C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||5/8|ENST00000407188.5:c.625+3722C>T|||||||rs132274||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29129138C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||2/3|ENST00000453585.1:c.195+3722C>T|||||||rs132274||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||C|C||1||chr22:g.29129138C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||1/2|ENST00000474001.1:n.220+3722C>T|||||||rs132274||1||HGNC|HGNC:17550|3||||||||Ensembl||C|C||1||chr22:g.29129138C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||5/8|NM_001039570.3:c.631+3722C>T|||||||rs132274||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29129138C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||5/9|NM_032045.5:c.631+3722C>T|||||||rs132274||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29129138C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||5/8|XM_011530429.3:c.631+3722C>T|||||||rs132274||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29129138C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-8204C>T|||||||rs132274||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29129138C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||3/6|XM_011530431.3:c.316+3722C>T|||||||rs132274||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||C|C||||chr22:g.29129138C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-8204C>T|||||||rs132274||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29129138C>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.07|0.00|-35|19|19|20;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000364001,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000200871,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,RNU6-810P,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80676;gnomADv4_1_AC_joint_XX=41335;gnomADv4_1_AC_joint_XY=39341;gnomADv4_1_AF_grpmax_joint=0.671639;gnomADv4_1_AF_joint=0.531057;gnomADv4_1_AF_joint_XX=0.532325;gnomADv4_1_AF_joint_XY=0.529731;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151916;gnomADv4_1_AN_joint_XX=77650;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24176;gnomADv4_1_nhomalt_joint_XX=12451;gnomADv4_1_nhomalt_joint_XY=11725;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29130209 chr22_29130209_C_T C T 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=11.47;CADD_Rawscore=1.1111;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||5/9|ENST00000327813.9:c.631+4793C>T|||||||rs132275||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29130209C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|Transcript|ENST00000364001|snRNA||||||||||rs132275|3805|1||HGNC|HGNC:47773|||||||||Ensembl||C|C||||chr22:g.29130209C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||5/8|ENST00000400335.9:c.631+4793C>T|||||||rs132275||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29130209C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||5/8|ENST00000407188.5:c.625+4793C>T|||||||rs132275||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29130209C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||2/3|ENST00000453585.1:c.195+4793C>T|||||||rs132275||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||C|C||1||chr22:g.29130209C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||1/2|ENST00000474001.1:n.220+4793C>T|||||||rs132275||1||HGNC|HGNC:17550|3||||||||Ensembl||C|C||1||chr22:g.29130209C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||5/8|NM_001039570.3:c.631+4793C>T|||||||rs132275||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29130209C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||5/9|NM_032045.5:c.631+4793C>T|||||||rs132275||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29130209C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||5/8|XM_011530429.3:c.631+4793C>T|||||||rs132275||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29130209C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-7133C>T|||||||rs132275||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29130209C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||3/6|XM_011530431.3:c.316+4793C>T|||||||rs132275||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||C|C||||chr22:g.29130209C>T|||1||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-7133C>T|||||||rs132275||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29130209C>T|||1||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|3|-27|-28|15;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000364001,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000200871,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,RNU6-810P,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80429;gnomADv4_1_AC_joint_XX=41211;gnomADv4_1_AC_joint_XY=39218;gnomADv4_1_AF_grpmax_joint=0.672957;gnomADv4_1_AF_joint=0.52911;gnomADv4_1_AF_joint_XX=0.530291;gnomADv4_1_AF_joint_XY=0.527876;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24068;gnomADv4_1_nhomalt_joint_XX=12398;gnomADv4_1_nhomalt_joint_XY=11670;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29131523 chr22_29131523_CATATATATATATATATATATAT_C;chr22_29131523_C_CATAT CATATATATATATATATATATAT C 32 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADDIndel_PHREDscore=0.658;CADDIndel_Rawscore=-0.12461;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||5/9|ENST00000327813.9:c.632-5802_632-5781del|||||||rs148738725||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||ATATATATATATATATATATAT|ATATATATATATATATATATAT||1|16|chr22:g.29131540_29131561del|||||||||||||,-|upstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|Transcript|ENST00000364001|snRNA||||||||||rs148738725|2469|1||HGNC|HGNC:47773|||||||||Ensembl||ATATATATATATATATATATAT|ATATATATATATATATATATAT||||chr22:g.29131540_29131561del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||5/8|ENST00000400335.9:c.632-5802_632-5781del|||||||rs148738725||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||ATATATATATATATATATATAT|ATATATATATATATATATATAT||1|16|chr22:g.29131540_29131561del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||5/8|ENST00000407188.5:c.626-5802_626-5781del|||||||rs148738725||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||ATATATATATATATATATATAT|ATATATATATATATATATATAT||1|16|chr22:g.29131540_29131561del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||2/3|ENST00000453585.1:c.196-5962_196-5941del|||||||rs148738725||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||ATATATATATATATATATATAT|ATATATATATATATATATATAT||1|16|chr22:g.29131540_29131561del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||1/2|ENST00000474001.1:n.221-5802_221-5781del|||||||rs148738725||1||HGNC|HGNC:17550|3||||||||Ensembl||ATATATATATATATATATATAT|ATATATATATATATATATATAT||1|16|chr22:g.29131540_29131561del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||5/8|NM_001039570.3:c.632-5802_632-5781del|||||||rs148738725||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||ATATATATATATATATATATAT|ATATATATATATATATATATAT|||16|chr22:g.29131540_29131561del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||5/9|NM_032045.5:c.632-5802_632-5781del|||||||rs148738725||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||ATATATATATATATATATATAT|ATATATATATATATATATATAT|||16|chr22:g.29131540_29131561del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||5/8|XM_011530429.3:c.632-5802_632-5781del|||||||rs148738725||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||ATATATATATATATATATATAT|ATATATATATATATATATATAT|||16|chr22:g.29131540_29131561del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-5802_353-5781del|||||||rs148738725||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||ATATATATATATATATATATAT|ATATATATATATATATATATAT|||16|chr22:g.29131540_29131561del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||3/6|XM_011530431.3:c.317-5802_317-5781del|||||||rs148738725||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||ATATATATATATATATATATAT|ATATATATATATATATATATAT|||16|chr22:g.29131540_29131561del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-5802_353-5781del|||||||rs148738725||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||ATATATATATATATATATATAT|ATATATATATATATATATATAT|||16|chr22:g.29131540_29131561del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000364001,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000200871,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,RNU6-810P,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31894;gnomADv4_1_AC_joint_XX=17670;gnomADv4_1_AC_joint_XY=14224;gnomADv4_1_AF_grpmax_joint=0.518692;gnomADv4_1_AF_joint=0.341017;gnomADv4_1_AF_joint_XX=0.346702;gnomADv4_1_AF_joint_XY=0.334211;gnomADv4_1_AN_grpmax_joint=214;gnomADv4_1_AN_joint=93526;gnomADv4_1_AN_joint_XX=50966;gnomADv4_1_AN_joint_XY=42560;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5980;gnomADv4_1_nhomalt_joint_XX=3348;gnomADv4_1_nhomalt_joint_XY=2632;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29131523 chr22_29131523_CATATATATATATATATATATAT_C;chr22_29131523_C_CATAT C CATAT 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=24;CADDIndel_PHREDscore=0.256;CADDIndel_Rawscore=-0.362447;CSQ=ATAT|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||5/9|ENST00000327813.9:c.632-5784_632-5781dup|||||||rs148738725||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|38|chr22:g.29131558_29131561dup|||||||||||||,ATAT|upstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|Transcript|ENST00000364001|snRNA||||||||||rs148738725|2490|1||HGNC|HGNC:47773|||||||||Ensembl|||||||chr22:g.29131558_29131561dup|||||||||||||,ATAT|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||5/8|ENST00000400335.9:c.632-5784_632-5781dup|||||||rs148738725||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|38|chr22:g.29131558_29131561dup|||||||||||||,ATAT|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||5/8|ENST00000407188.5:c.626-5784_626-5781dup|||||||rs148738725||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|38|chr22:g.29131558_29131561dup|||||||||||||,ATAT|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||2/3|ENST00000453585.1:c.196-5944_196-5941dup|||||||rs148738725||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl|||||1|38|chr22:g.29131558_29131561dup|||||||||||||,ATAT|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||1/2|ENST00000474001.1:n.221-5784_221-5781dup|||||||rs148738725||1||HGNC|HGNC:17550|3||||||||Ensembl|||||1|38|chr22:g.29131558_29131561dup|||||||||||||,ATAT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||5/8|NM_001039570.3:c.632-5784_632-5781dup|||||||rs148738725||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||38|chr22:g.29131558_29131561dup|||||||||||||,ATAT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||5/9|NM_032045.5:c.632-5784_632-5781dup|||||||rs148738725||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||38|chr22:g.29131558_29131561dup|||||||||||||,ATAT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||5/8|XM_011530429.3:c.632-5784_632-5781dup|||||||rs148738725||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||38|chr22:g.29131558_29131561dup|||||||||||||,ATAT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-5784_353-5781dup|||||||rs148738725||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||38|chr22:g.29131558_29131561dup|||||||||||||,ATAT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||3/6|XM_011530431.3:c.317-5784_317-5781dup|||||||rs148738725||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||||||38|chr22:g.29131558_29131561dup|||||||||||||,ATAT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-5784_353-5781dup|||||||rs148738725||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||38|chr22:g.29131558_29131561dup|||||||||||||;TYPE=INDEL;VEP_Allele=ATAT,ATAT,ATAT,ATAT,ATAT,ATAT,ATAT,ATAT,ATAT,ATAT,ATAT,ATAT;VEP_Feature=ENST00000327813,ENST00000364001,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000200871,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,RNU6-810P,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=239;gnomADv4_1_AC_joint_XX=133;gnomADv4_1_AC_joint_XY=106;gnomADv4_1_AF_grpmax_joint=0.0105802;gnomADv4_1_AF_joint=0.00255478;gnomADv4_1_AF_joint_XX=0.00260928;gnomADv4_1_AF_joint_XY=0.00248955;gnomADv4_1_AN_grpmax_joint=14272;gnomADv4_1_AN_joint=93550;gnomADv4_1_AN_joint_XX=50972;gnomADv4_1_AN_joint_XY=42578;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29131865 chr22_29131865_CTT_C CTT C 32 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=32;CADDIndel_PHREDscore=3.405;CADDIndel_Rawscore=0.312093;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||5/9|ENST00000327813.9:c.632-5454_632-5453del|||||||rs71196633||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||TT|TT||1|22|chr22:g.29131888_29131889del|||||||||||||,-|upstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|Transcript|ENST00000364001|snRNA||||||||||rs71196633|2147|1||HGNC|HGNC:47773|||||||||Ensembl||TT|TT||||chr22:g.29131888_29131889del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||5/8|ENST00000400335.9:c.632-5454_632-5453del|||||||rs71196633||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||TT|TT||1|22|chr22:g.29131888_29131889del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||5/8|ENST00000407188.5:c.626-5454_626-5453del|||||||rs71196633||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||TT|TT||1|22|chr22:g.29131888_29131889del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||2/3|ENST00000453585.1:c.196-5614_196-5613del|||||||rs71196633||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||TT|TT||1|22|chr22:g.29131888_29131889del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||1/2|ENST00000474001.1:n.221-5454_221-5453del|||||||rs71196633||1||HGNC|HGNC:17550|3||||||||Ensembl||TT|TT||1|22|chr22:g.29131888_29131889del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||5/8|NM_001039570.3:c.632-5454_632-5453del|||||||rs71196633||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||TT|TT|||22|chr22:g.29131888_29131889del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||5/9|NM_032045.5:c.632-5454_632-5453del|||||||rs71196633||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||TT|TT|||22|chr22:g.29131888_29131889del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||5/8|XM_011530429.3:c.632-5454_632-5453del|||||||rs71196633||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||TT|TT|||22|chr22:g.29131888_29131889del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-5454_353-5453del|||||||rs71196633||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||TT|TT|||22|chr22:g.29131888_29131889del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||3/6|XM_011530431.3:c.317-5454_317-5453del|||||||rs71196633||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||TT|TT|||22|chr22:g.29131888_29131889del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-5454_353-5453del|||||||rs71196633||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||TT|TT|||22|chr22:g.29131888_29131889del|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|28|32|28|34;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000364001,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000200871,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,RNU6-810P,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13886;gnomADv4_1_AC_joint_XX=8070;gnomADv4_1_AC_joint_XY=5816;gnomADv4_1_AF_grpmax_joint=0.344948;gnomADv4_1_AF_joint=0.31234;gnomADv4_1_AF_joint_XX=0.321899;gnomADv4_1_AF_joint_XY=0.299979;gnomADv4_1_AN_grpmax_joint=26030;gnomADv4_1_AN_joint=44458;gnomADv4_1_AN_joint_XX=25070;gnomADv4_1_AN_joint_XY=19388;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=235;gnomADv4_1_nhomalt_joint_XX=109;gnomADv4_1_nhomalt_joint_XY=126;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29133247 chr22_29133247_C_CA C CA 46 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.591;CADDIndel_Rawscore=-0.151395;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||5/9|ENST00000327813.9:c.632-4081dup|||||||rs147076750||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|14|chr22:g.29133261dup|||||||||||||,A|upstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|Transcript|ENST00000364001|snRNA||||||||||rs147076750|766|1||HGNC|HGNC:47773|||||||||Ensembl|||||||chr22:g.29133261dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||5/8|ENST00000400335.9:c.632-4081dup|||||||rs147076750||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|14|chr22:g.29133261dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||5/8|ENST00000407188.5:c.626-4081dup|||||||rs147076750||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|14|chr22:g.29133261dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||2/3|ENST00000453585.1:c.196-4241dup|||||||rs147076750||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl|||||1|14|chr22:g.29133261dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||1/2|ENST00000474001.1:n.221-4081dup|||||||rs147076750||1||HGNC|HGNC:17550|3||||||||Ensembl|||||1|14|chr22:g.29133261dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||5/8|NM_001039570.3:c.632-4081dup|||||||rs147076750||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||14|chr22:g.29133261dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||5/9|NM_032045.5:c.632-4081dup|||||||rs147076750||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||14|chr22:g.29133261dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||5/8|XM_011530429.3:c.632-4081dup|||||||rs147076750||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||14|chr22:g.29133261dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-4081dup|||||||rs147076750||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||14|chr22:g.29133261dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||3/6|XM_011530431.3:c.317-4081dup|||||||rs147076750||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||||||14|chr22:g.29133261dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-4081dup|||||||rs147076750||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||14|chr22:g.29133261dup|||||||||||||;SpliceAI=CA|KREMEN1|0.00|0.00|0.00|0.00|-13|-15|41|47;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000364001,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000200871,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,RNU6-810P,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88147;gnomADv4_1_AC_joint_XX=46588;gnomADv4_1_AC_joint_XY=41559;gnomADv4_1_AF_grpmax_joint=0.920914;gnomADv4_1_AF_joint=0.698703;gnomADv4_1_AF_joint_XX=0.700003;gnomADv4_1_AF_joint_XY=0.697252;gnomADv4_1_AN_grpmax_joint=4552;gnomADv4_1_AN_joint=126158;gnomADv4_1_AN_joint_XX=66554;gnomADv4_1_AN_joint_XY=59604;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32014;gnomADv4_1_nhomalt_joint_XX=16908;gnomADv4_1_nhomalt_joint_XY=15106;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29134967 chr22_29134967_A_G A G 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.584;CADD_Rawscore=0.232744;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||5/9|ENST00000327813.9:c.632-2375A>G|||||||rs132276||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29134967A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|Transcript|ENST00000364001|snRNA||||||||||rs132276|847|1||HGNC|HGNC:47773|||||||||Ensembl||A|A||||chr22:g.29134967A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||5/8|ENST00000400335.9:c.632-2375A>G|||||||rs132276||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29134967A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||5/8|ENST00000407188.5:c.626-2375A>G|||||||rs132276||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||A|A||1||chr22:g.29134967A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||2/3|ENST00000453585.1:c.196-2535A>G|||||||rs132276||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||A|A||1||chr22:g.29134967A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||1/2|ENST00000474001.1:n.221-2375A>G|||||||rs132276||1||HGNC|HGNC:17550|3||||||||Ensembl||A|A||1||chr22:g.29134967A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||5/8|NM_001039570.3:c.632-2375A>G|||||||rs132276||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29134967A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||5/9|NM_032045.5:c.632-2375A>G|||||||rs132276||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29134967A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||5/8|XM_011530429.3:c.632-2375A>G|||||||rs132276||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29134967A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-2375A>G|||||||rs132276||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29134967A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||3/6|XM_011530431.3:c.317-2375A>G|||||||rs132276||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||A|A||||chr22:g.29134967A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-2375A>G|||||||rs132276||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29134967A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|33|2|-13|1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000364001,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000200871,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,RNU6-810P,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=143506;gnomADv4_1_AC_joint_XX=73278;gnomADv4_1_AC_joint_XY=70228;gnomADv4_1_AF_grpmax_joint=0.961148;gnomADv4_1_AF_joint=0.942878;gnomADv4_1_AF_joint_XX=0.942022;gnomADv4_1_AF_joint_XY=0.943773;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152200;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=67705;gnomADv4_1_nhomalt_joint_XX=34533;gnomADv4_1_nhomalt_joint_XY=33172;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29136963 chr22_29136963_T_G T G 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.009;CADD_Rawscore=0.165155;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||5/9|ENST00000327813.9:c.632-379T>G|||||||rs132277||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29136963T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RNU6-810P|ENSG00000200871|Transcript|ENST00000364001|snRNA||||||||||rs132277|2843|1||HGNC|HGNC:47773|||||||||Ensembl||T|T||||chr22:g.29136963T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||5/8|ENST00000400335.9:c.632-379T>G|||||||rs132277||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29136963T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||5/8|ENST00000407188.5:c.626-379T>G|||||||rs132277||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29136963T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||2/3|ENST00000453585.1:c.196-539T>G|||||||rs132277||1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||T|T||1||chr22:g.29136963T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||1/2|ENST00000474001.1:n.221-379T>G|||||||rs132277||1||HGNC|HGNC:17550|3||||||||Ensembl||T|T||1||chr22:g.29136963T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||5/8|NM_001039570.3:c.632-379T>G|||||||rs132277||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29136963T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||5/9|NM_032045.5:c.632-379T>G|||||||rs132277||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29136963T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||5/8|XM_011530429.3:c.632-379T>G|||||||rs132277||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29136963T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||3/6|XM_011530430.3:c.353-379T>G|||||||rs132277||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29136963T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||3/6|XM_011530431.3:c.317-379T>G|||||||rs132277||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29136963T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||3/6|XM_017028989.2:c.353-379T>G|||||||rs132277||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29136963T>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|1|14|22|-34;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000364001,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000200871,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,RNU6-810P,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=75407;gnomADv4_1_AC_joint_XX=38638;gnomADv4_1_AC_joint_XY=36769;gnomADv4_1_AF_grpmax_joint=0.672427;gnomADv4_1_AF_joint=0.495916;gnomADv4_1_AF_joint_XX=0.49708;gnomADv4_1_AF_joint_XY=0.494699;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=22489;gnomADv4_1_nhomalt_joint_XX=11622;gnomADv4_1_nhomalt_joint_XY=10867;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29141226 chr22_29141226_C_CGT C CGT 42 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.151;CADDIndel_Rawscore=-0.500288;CSQ=GT|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||8/9|ENST00000327813.9:c.1260-695_1260-694dup|||||||rs132278||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|24|chr22:g.29141249_29141250dup|||||||||||||,GT|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||8/8|ENST00000400335.9:c.1209-695_1209-694dup|||||||rs132278||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl|||||1|24|chr22:g.29141249_29141250dup|||||||||||||,GT|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||8/8|ENST00000407188.5:c.1254-695_1254-694dup|||||||rs132278||1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl|||||1|24|chr22:g.29141249_29141250dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs132278|2455|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl|||||1||chr22:g.29141249_29141250dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||||||||||rs132278|2584|1||HGNC|HGNC:17550|3||||||||Ensembl|||||1||chr22:g.29141249_29141250dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs132278|803|1||HGNC|HGNC:17550|4||||||||Ensembl|||||1||chr22:g.29141249_29141250dup|||||||||||||,GT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||8/8|NM_001039570.3:c.1209-695_1209-694dup|||||||rs132278||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||||||24|chr22:g.29141249_29141250dup|||||||||||||,GT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||8/9|NM_032045.5:c.1260-695_1260-694dup|||||||rs132278||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||24|chr22:g.29141249_29141250dup|||||||||||||,GT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||8/8|XM_011530429.3:c.1260-695_1260-694dup|||||||rs132278||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||||||24|chr22:g.29141249_29141250dup|||||||||||||,GT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||6/6|XM_011530430.3:c.981-695_981-694dup|||||||rs132278||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||||||24|chr22:g.29141249_29141250dup|||||||||||||,GT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||6/6|XM_011530431.3:c.945-695_945-694dup|||||||rs132278||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||||||24|chr22:g.29141249_29141250dup|||||||||||||,GT|intron_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||6/6|XM_017028989.2:c.930-695_930-694dup|||||||rs132278||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||||||24|chr22:g.29141249_29141250dup|||||||||||||;TYPE=INDEL;VEP_Allele=GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,ENST00000479755,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=109350;gnomADv4_1_AC_joint_XX=56248;gnomADv4_1_AC_joint_XY=53102;gnomADv4_1_AF_grpmax_joint=0.913568;gnomADv4_1_AF_joint=0.736483;gnomADv4_1_AF_joint_XX=0.737215;gnomADv4_1_AF_joint_XY=0.735709;gnomADv4_1_AN_grpmax_joint=5056;gnomADv4_1_AN_joint=148476;gnomADv4_1_AN_joint_XX=76298;gnomADv4_1_AN_joint_XY=72178;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=40617;gnomADv4_1_nhomalt_joint_XX=20903;gnomADv4_1_nhomalt_joint_XY=19714;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29142742 chr22_29142742_C_T C T 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=8.242;CADD_Rawscore=0.795259;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1416+642C>T|||||||rs12170250||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29142742C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding|9/9||ENST00000400335.9:c.*630C>T||2103|||||rs12170250||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29142742C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs12170250|630|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29142742C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs12170250|3971|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||C|C||1||chr22:g.29142742C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||||||||||rs12170250|4100|1||HGNC|HGNC:17550|3||||||||Ensembl||C|C||1||chr22:g.29142742C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||1/1|ENST00000479755.1:n.71+642C>T|||||||rs12170250||1||HGNC|HGNC:17550|4||||||||Ensembl||C|C||1||chr22:g.29142742C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding|9/9||NM_001039570.3:c.*630C>T||2103|||||rs12170250||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29142742C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1416+642C>T|||||||rs12170250||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29142742C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding|9/9||XM_011530429.3:c.*630C>T||2154|||||rs12170250||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29142742C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding|7/7||XM_011530430.3:c.*630C>T||1875|||||rs12170250||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29142742C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding|7/7||XM_011530431.3:c.*630C>T||3479|||||rs12170250||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||C|C||||chr22:g.29142742C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding|7/7||XM_017028989.2:c.*630C>T||1824|||||rs12170250||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29142742C>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|-40|32|-40|2;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,ENST00000479755,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8930;gnomADv4_1_AC_joint_XX=4787;gnomADv4_1_AC_joint_XY=4143;gnomADv4_1_AF_grpmax_joint=0.0287356;gnomADv4_1_AF_joint=0.00906174;gnomADv4_1_AF_joint_XX=0.00909637;gnomADv4_1_AF_joint_XY=0.00902206;gnomADv4_1_AN_grpmax_joint=1914;gnomADv4_1_AN_joint=985462;gnomADv4_1_AN_joint_XX=526254;gnomADv4_1_AN_joint_XY=459208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=85;gnomADv4_1_nhomalt_joint_XX=46;gnomADv4_1_nhomalt_joint_XY=39;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29143558 chr22_29143558_T_C T C 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.479;CADD_Rawscore=0.084375;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1416+1458T>C|||||||rs132279||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29143558T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding|9/9||ENST00000400335.9:c.*1446T>C||2919|||||rs132279||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||T|T||1||chr22:g.29143558T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs132279|1446|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||T|T||1||chr22:g.29143558T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000453585|nonsense_mediated_decay||||||||||rs132279|4787|1|cds_start_NF|HGNC|HGNC:17550|4||ENSP00000388228||H7BZ87.50|UPI000161106A|||Ensembl||T|T||1||chr22:g.29143558T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000474001|retained_intron||||||||||rs132279|4916|1||HGNC|HGNC:17550|3||||||||Ensembl||T|T||1||chr22:g.29143558T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||1/1|ENST00000479755.1:n.71+1458T>C|||||||rs132279||1||HGNC|HGNC:17550|4||||||||Ensembl||T|T||1||chr22:g.29143558T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding|9/9||NM_001039570.3:c.*1446T>C||2919|||||rs132279||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||T|T||||chr22:g.29143558T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1416+1458T>C|||||||rs132279||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29143558T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding|9/9||XM_011530429.3:c.*1446T>C||2970|||||rs132279||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||T|T||||chr22:g.29143558T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding|7/7||XM_011530430.3:c.*1446T>C||2691|||||rs132279||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||T|T||||chr22:g.29143558T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding|7/7||XM_011530431.3:c.*1446T>C||4295|||||rs132279||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||T|T||||chr22:g.29143558T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding|7/7||XM_017028989.2:c.*1446T>C||2640|||||rs132279||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||T|T||||chr22:g.29143558T>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|1|39|1|-31;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000453585,ENST00000474001,ENST00000479755,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=623831;gnomADv4_1_AC_joint_XX=330150;gnomADv4_1_AC_joint_XY=293681;gnomADv4_1_AF_grpmax_joint=0.836625;gnomADv4_1_AF_joint=0.80475;gnomADv4_1_AF_joint_XX=0.805291;gnomADv4_1_AF_joint_XY=0.804143;gnomADv4_1_AN_grpmax_joint=638464;gnomADv4_1_AN_joint=775186;gnomADv4_1_AN_joint_XX=409976;gnomADv4_1_AN_joint_XY=365210;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=254196;gnomADv4_1_nhomalt_joint_XX=134652;gnomADv4_1_nhomalt_joint_XY=119544;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29145459 chr22_29145459_G_A G A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.16;CADD_Rawscore=0.020746;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1416+3359G>A|||||||rs734950||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29145459G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding|9/9||ENST00000400335.9:c.*3347G>A||4820|||||rs734950||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29145459G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs734950|3347|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||G|G||1||chr22:g.29145459G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||1/1|ENST00000479755.1:n.71+3359G>A|||||||rs734950||1||HGNC|HGNC:17550|4||||||||Ensembl||G|G||1||chr22:g.29145459G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding|9/9||NM_001039570.3:c.*3347G>A||4820|||||rs734950||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29145459G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1416+3359G>A|||||||rs734950||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29145459G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding|9/9||XM_011530429.3:c.*3347G>A||4871|||||rs734950||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29145459G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding|7/7||XM_011530430.3:c.*3347G>A||4592|||||rs734950||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29145459G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding|7/7||XM_011530431.3:c.*3347G>A||6196|||||rs734950||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29145459G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding|7/7||XM_017028989.2:c.*3347G>A||4541|||||rs734950||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29145459G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|41|44|41|24;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000479755,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=250680;gnomADv4_1_AC_joint_XX=133564;gnomADv4_1_AC_joint_XY=117116;gnomADv4_1_AF_grpmax_joint=0.566371;gnomADv4_1_AF_joint=0.254394;gnomADv4_1_AF_joint_XX=0.253833;gnomADv4_1_AF_joint_XY=0.255037;gnomADv4_1_AN_grpmax_joint=8784;gnomADv4_1_AN_joint=985400;gnomADv4_1_AN_joint_XX=526188;gnomADv4_1_AN_joint_XY=459212;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34023;gnomADv4_1_nhomalt_joint_XX=18096;gnomADv4_1_nhomalt_joint_XY=15927;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29146760 chr22_29146760_C_A C A 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=13.83;CADD_Rawscore=1.4414;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1416+4660C>A|||||||rs132281||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29146760C>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding|9/9||ENST00000400335.9:c.*4648C>A||6121|||||rs132281||1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29146760C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000407188|protein_coding||||||||||rs132281|4648|1||HGNC|HGNC:17550|1||ENSP00000385431|Q96MU8.188||UPI0000160393|Q96MU8-1||Ensembl||C|C||1||chr22:g.29146760C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||1/1|ENST00000479755.1:n.71+4660C>A|||||||rs132281||1||HGNC|HGNC:17550|4||||||||Ensembl||C|C||1||chr22:g.29146760C>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding|9/9||NM_001039570.3:c.*4648C>A||6121|||||rs132281||1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29146760C>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1416+4660C>A|||||||rs132281||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29146760C>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding|9/9||XM_011530429.3:c.*4648C>A||6172|||||rs132281||1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29146760C>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding|7/7||XM_011530430.3:c.*4648C>A||5893|||||rs132281||1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29146760C>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding|7/7||XM_011530431.3:c.*4648C>A||7497|||||rs132281||1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||C|C||||chr22:g.29146760C>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding|7/7||XM_017028989.2:c.*4648C>A||5842|||||rs132281||1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29146760C>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|2|-45|33|29;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000407188,ENST00000479755,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=911065;gnomADv4_1_AC_joint_XX=485377;gnomADv4_1_AC_joint_XY=425688;gnomADv4_1_AF_grpmax_joint=0.999769;gnomADv4_1_AF_joint=0.955273;gnomADv4_1_AF_joint_XX=0.955064;gnomADv4_1_AF_joint_XY=0.955511;gnomADv4_1_AN_grpmax_joint=8670;gnomADv4_1_AN_joint=953722;gnomADv4_1_AN_joint_XX=508214;gnomADv4_1_AN_joint_XY=445508;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=435280;gnomADv4_1_nhomalt_joint_XX=231851;gnomADv4_1_nhomalt_joint_XY=203429;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29147670 chr22_29147670_G_A G A 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=0.328;CADD_Rawscore=-0.29965;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1416+5570G>A|||||||rs2187863||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29147670G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs2187863|850|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29147670G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||1/1|ENST00000479755.1:n.71+5570G>A|||||||rs2187863||1||HGNC|HGNC:17550|4||||||||Ensembl||G|G||1||chr22:g.29147670G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs2187863|850|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29147670G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1416+5570G>A|||||||rs2187863||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29147670G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs2187863|850|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29147670G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs2187863|850|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29147670G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||||||||||rs2187863|850|1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29147670G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs2187863|850|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29147670G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|2|-8|2|14;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000479755,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5097;gnomADv4_1_AC_joint_XX=2714;gnomADv4_1_AC_joint_XY=2383;gnomADv4_1_AF_grpmax_joint=0.0510204;gnomADv4_1_AF_joint=0.0334629;gnomADv4_1_AF_joint_XX=0.0348655;gnomADv4_1_AF_joint_XY=0.0319969;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152318;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=139;gnomADv4_1_nhomalt_joint_XX=78;gnomADv4_1_nhomalt_joint_XY=61;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29148176 chr22_29148176_C_T C T 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.719;CADD_Rawscore=0.246713;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1416+6076C>T|||||||rs132282||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29148176C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs132282|1356|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||C|C||1||chr22:g.29148176C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||1/1|ENST00000479755.1:n.71+6076C>T|||||||rs132282||1||HGNC|HGNC:17550|4||||||||Ensembl||C|C||1||chr22:g.29148176C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs132282|1356|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||C|C||||chr22:g.29148176C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1416+6076C>T|||||||rs132282||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29148176C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs132282|1356|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||C|C||||chr22:g.29148176C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs132282|1356|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||C|C||||chr22:g.29148176C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||||||||||rs132282|1356|1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||C|C||||chr22:g.29148176C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs132282|1356|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||C|C||||chr22:g.29148176C>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|-1|34|-49|-47;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000479755,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=79186;gnomADv4_1_AC_joint_XX=40758;gnomADv4_1_AC_joint_XY=38428;gnomADv4_1_AF_grpmax_joint=0.689121;gnomADv4_1_AF_joint=0.521077;gnomADv4_1_AF_joint_XX=0.524651;gnomADv4_1_AF_joint_XY=0.51734;gnomADv4_1_AN_grpmax_joint=67946;gnomADv4_1_AN_joint=151966;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25013;gnomADv4_1_nhomalt_joint_XX=13052;gnomADv4_1_nhomalt_joint_XY=11961;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29148600 chr22_29148600_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.105;CADD_Rawscore=-0.598525;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1416+6500G>A|||||||rs182190189||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29148600G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs182190189|1780|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29148600G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||1/1|ENST00000479755.1:n.72-5738G>A|||||||rs182190189||1||HGNC|HGNC:17550|4||||||||Ensembl||G|G||1||chr22:g.29148600G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs182190189|1780|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29148600G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1416+6500G>A|||||||rs182190189||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29148600G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs182190189|1780|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29148600G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs182190189|1780|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29148600G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||||||||||rs182190189|1780|1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29148600G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs182190189|1780|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29148600G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|37|40|-3|26;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000479755,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1373;gnomADv4_1_AC_joint_XX=738;gnomADv4_1_AC_joint_XY=635;gnomADv4_1_AF_grpmax_joint=0.0167434;gnomADv4_1_AF_joint=0.00905183;gnomADv4_1_AF_joint_XX=0.00951816;gnomADv4_1_AF_joint_XY=0.00856418;gnomADv4_1_AN_grpmax_joint=4778;gnomADv4_1_AN_joint=151682;gnomADv4_1_AN_joint_XX=77536;gnomADv4_1_AN_joint_XY=74146;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=15;gnomADv4_1_nhomalt_joint_XX=9;gnomADv4_1_nhomalt_joint_XY=6;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29148845 chr22_29148845_A_G A G 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.873;CADD_Rawscore=0.146535;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1416+6745A>G|||||||rs132283||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29148845A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs132283|2025|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||A|A||1||chr22:g.29148845A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||1/1|ENST00000479755.1:n.72-5493A>G|||||||rs132283||1||HGNC|HGNC:17550|4||||||||Ensembl||A|A||1||chr22:g.29148845A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs132283|2025|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||A|A||||chr22:g.29148845A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1416+6745A>G|||||||rs132283||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29148845A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs132283|2025|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||A|A||||chr22:g.29148845A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs132283|2025|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||A|A||||chr22:g.29148845A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||||||||||rs132283|2025|1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||A|A||||chr22:g.29148845A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs132283|2025|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||A|A||||chr22:g.29148845A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-6|15|-6|-2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000479755,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=140022;gnomADv4_1_AC_joint_XX=71631;gnomADv4_1_AC_joint_XY=68391;gnomADv4_1_AF_grpmax_joint=0.997292;gnomADv4_1_AF_joint=0.920313;gnomADv4_1_AF_joint_XX=0.920967;gnomADv4_1_AF_joint_XY=0.919629;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64574;gnomADv4_1_nhomalt_joint_XX=33055;gnomADv4_1_nhomalt_joint_XY=31519;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29150221 chr22_29150221_TG_T TG T 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=2.104;CADDIndel_Rawscore=0.177348;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1416+8132del|||||||rs132284||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1|10|chr22:g.29150232del|||||||||||||,-|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs132284|3402|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29150232del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||1/1|ENST00000479755.1:n.72-4106del|||||||rs132284||1||HGNC|HGNC:17550|4||||||||Ensembl||G|G||1|10|chr22:g.29150232del|||||||||||||,-|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs132284|3402|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29150232del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1416+8132del|||||||rs132284||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G|||10|chr22:g.29150232del|||||||||||||,-|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs132284|3402|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29150232del|||||||||||||,-|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs132284|3402|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29150232del|||||||||||||,-|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||||||||||rs132284|3402|1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29150232del|||||||||||||,-|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs132284|3402|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29150232del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7R7B|enhancer||||||||||rs132284|||||||||||||||||||||chr22:g.29150232del|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|15|41|-50|-2;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000479755,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2,ENSR22_B7R7B;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96164;gnomADv4_1_AC_joint_XX=49345;gnomADv4_1_AC_joint_XY=46819;gnomADv4_1_AF_grpmax_joint=0.812108;gnomADv4_1_AF_joint=0.639448;gnomADv4_1_AF_joint_XX=0.641427;gnomADv4_1_AF_joint_XY=0.637375;gnomADv4_1_AN_grpmax_joint=5104;gnomADv4_1_AN_joint=150386;gnomADv4_1_AN_joint_XX=76930;gnomADv4_1_AN_joint_XY=73456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=31976;gnomADv4_1_nhomalt_joint_XX=16520;gnomADv4_1_nhomalt_joint_XY=15456;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29150244 chr22_29150244_G_A G A 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.285;CADD_Rawscore=-0.335225;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1416+8144G>A|||||||rs150212450||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29150244G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000400335|protein_coding||||||||||rs150212450|3424|1||HGNC|HGNC:17550|1|CCDS43000.2|ENSP00000383189|Q96MU8.188||UPI0000227E5B|Q96MU8-3||Ensembl||G|G||1||chr22:g.29150244G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||1/1|ENST00000479755.1:n.72-4094G>A|||||||rs150212450||1||HGNC|HGNC:17550|4||||||||Ensembl||G|G||1||chr22:g.29150244G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_001039570.3|protein_coding||||||||||rs150212450|3424|1||EntrezGene|HGNC:17550|||NP_001034659.2||||||RefSeq||G|G||||chr22:g.29150244G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1416+8144G>A|||||||rs150212450||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29150244G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530429.3|protein_coding||||||||||rs150212450|3424|1||EntrezGene|HGNC:17550|||XP_011528731.1||||||RefSeq||G|G||||chr22:g.29150244G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530430.3|protein_coding||||||||||rs150212450|3424|1||EntrezGene|HGNC:17550|||XP_011528732.1||||||RefSeq||G|G||||chr22:g.29150244G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_011530431.3|protein_coding||||||||||rs150212450|3424|1||EntrezGene|HGNC:17550|||XP_011528733.1||||||RefSeq||G|G||||chr22:g.29150244G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|XM_017028989.2|protein_coding||||||||||rs150212450|3424|1||EntrezGene|HGNC:17550|||XP_016884478.1||||||RefSeq||G|G||||chr22:g.29150244G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7R7B|enhancer||||||||||rs150212450|||||||||||||||||||||chr22:g.29150244G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|27|18|2|-25;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000327813,ENST00000400335,ENST00000479755,NM_001039570.3,NM_032045.5,XM_011530429.3,XM_011530430.3,XM_011530431.3,XM_017028989.2,ENSR22_B7R7B;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,ENSG00000183762,83999,83999,83999,83999,83999,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3875;gnomADv4_1_AC_joint_XX=2028;gnomADv4_1_AC_joint_XY=1847;gnomADv4_1_AF_grpmax_joint=0.038836;gnomADv4_1_AF_joint=0.0254519;gnomADv4_1_AF_joint_XX=0.0260601;gnomADv4_1_AF_joint_XY=0.0248159;gnomADv4_1_AN_grpmax_joint=68004;gnomADv4_1_AN_joint=152248;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=73;gnomADv4_1_nhomalt_joint_XX=44;gnomADv4_1_nhomalt_joint_XY=29;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29152009 chr22_29152009_T_TA T TA 50 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.255;CADDIndel_Rawscore=-0.364098;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1416+9926dup|||||||rs132285||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|17|chr22:g.29152026dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||1/1|ENST00000479755.1:n.72-2312dup|||||||rs132285||1||HGNC|HGNC:17550|4||||||||Ensembl|||||1|17|chr22:g.29152026dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1416+9926dup|||||||rs132285||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||17|chr22:g.29152026dup|||||||||||||;SpliceAI=TA|KREMEN1|0.00|0.00|0.00|0.00|24|31|-15|4;TYPE=INDEL;VEP_Allele=A,A,A;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=86584;gnomADv4_1_AC_joint_XX=46099;gnomADv4_1_AC_joint_XY=40485;gnomADv4_1_AF_grpmax_joint=0.796693;gnomADv4_1_AF_joint=0.653573;gnomADv4_1_AF_joint_XX=0.660179;gnomADv4_1_AF_joint_XY=0.646209;gnomADv4_1_AN_grpmax_joint=4476;gnomADv4_1_AN_joint=132478;gnomADv4_1_AN_joint_XX=69828;gnomADv4_1_AN_joint_XY=62650;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=30975;gnomADv4_1_nhomalt_joint_XX=16640;gnomADv4_1_nhomalt_joint_XY=14335;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29152091 chr22_29152091_A_G A G 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=7.597;CADD_Rawscore=0.723758;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1416+9991A>G|||||||rs469981||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29152091A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||1/1|ENST00000479755.1:n.72-2247A>G|||||||rs469981||1||HGNC|HGNC:17550|4||||||||Ensembl||A|A||1||chr22:g.29152091A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1416+9991A>G|||||||rs469981||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29152091A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-13|-3|-13|-3;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=143008;gnomADv4_1_AC_joint_XX=73234;gnomADv4_1_AC_joint_XY=69774;gnomADv4_1_AF_grpmax_joint=0.99727;gnomADv4_1_AF_joint=0.942877;gnomADv4_1_AF_joint_XX=0.943786;gnomADv4_1_AF_joint_XY=0.941925;gnomADv4_1_AN_grpmax_joint=5128;gnomADv4_1_AN_joint=151672;gnomADv4_1_AN_joint_XX=77596;gnomADv4_1_AN_joint_XY=74076;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67455;gnomADv4_1_nhomalt_joint_XX=34575;gnomADv4_1_nhomalt_joint_XY=32880;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29152274 chr22_29152274_A_G A G 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.921;CADD_Rawscore=-0.039137;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1416+10174A>G|||||||rs132286||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29152274A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||1/1|ENST00000479755.1:n.72-2064A>G|||||||rs132286||1||HGNC|HGNC:17550|4||||||||Ensembl||A|A||1||chr22:g.29152274A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1416+10174A>G|||||||rs132286||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29152274A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4W4S|enhancer||||||||||rs132286|||||||||||||||||||||chr22:g.29152274A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-41|5|42|15;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5,ENSR22_C4W4S;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=140034;gnomADv4_1_AC_joint_XX=71608;gnomADv4_1_AC_joint_XY=68426;gnomADv4_1_AF_grpmax_joint=0.997295;gnomADv4_1_AF_joint=0.920138;gnomADv4_1_AF_joint_XX=0.920766;gnomADv4_1_AF_joint_XY=0.919482;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152188;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64561;gnomADv4_1_nhomalt_joint_XX=33035;gnomADv4_1_nhomalt_joint_XY=31526;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29153969 chr22_29153969_C_CA C CA 48 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=1.204;CADDIndel_Rawscore=0.030591;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1416+11883dup|||||||rs132287||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|14|chr22:g.29153983dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||1/1|ENST00000479755.1:n.72-355dup|||||||rs132287||1||HGNC|HGNC:17550|4||||||||Ensembl|||||1|14|chr22:g.29153983dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1416+11883dup|||||||rs132287||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||14|chr22:g.29153983dup|||||||||||||;SpliceAI=CA|KREMEN1|0.00|0.00|0.00|0.00|20|-25|-15|-21;TYPE=INDEL;VEP_Allele=A,A,A;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=113929;gnomADv4_1_AC_joint_XX=59560;gnomADv4_1_AC_joint_XY=54369;gnomADv4_1_AF_grpmax_joint=0.889452;gnomADv4_1_AF_joint=0.811079;gnomADv4_1_AF_joint_XX=0.816248;gnomADv4_1_AF_joint_XY=0.805491;gnomADv4_1_AN_grpmax_joint=65284;gnomADv4_1_AN_joint=140466;gnomADv4_1_AN_joint_XX=72968;gnomADv4_1_AN_joint_XY=67498;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=46538;gnomADv4_1_nhomalt_joint_XX=24539;gnomADv4_1_nhomalt_joint_XY=21999;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29154640 chr22_29154640_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=11.85;CADD_Rawscore=1.15528;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-12404T>C|||||||rs5752871||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29154640T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined|2/2||ENST00000479755.1:n.374T>C||374|||||rs5752871||1||HGNC|HGNC:17550|4||||||||Ensembl||T|T||1||chr22:g.29154640T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-12404T>C|||||||rs5752871||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29154640T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7R7X|enhancer||||||||||rs5752871|||||||||||||||||||||chr22:g.29154640T>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-49|-2|18|-8;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5,ENSR22_B7R7X;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=129132;gnomADv4_1_AC_joint_XX=66181;gnomADv4_1_AC_joint_XY=62951;gnomADv4_1_AF_grpmax_joint=0.90734;gnomADv4_1_AF_joint=0.848693;gnomADv4_1_AF_joint_XX=0.851115;gnomADv4_1_AF_joint_XY=0.846161;gnomADv4_1_AN_grpmax_joint=68066;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=55293;gnomADv4_1_nhomalt_joint_XX=28430;gnomADv4_1_nhomalt_joint_XY=26863;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29155110 chr22_29155110_AT_A AT A 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.537;CADDIndel_Rawscore=-0.175333;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-11922del|||||||rs132288||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1|11|chr22:g.29155122del|||||||||||||,-|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs132288|342|1||HGNC|HGNC:17550|4||||||||Ensembl||T|T||1||chr22:g.29155122del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-11922del|||||||rs132288||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T|||11|chr22:g.29155122del|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|30|32|-4|-6;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=126734;gnomADv4_1_AC_joint_XX=65274;gnomADv4_1_AC_joint_XY=61460;gnomADv4_1_AF_grpmax_joint=0.897903;gnomADv4_1_AF_joint=0.846485;gnomADv4_1_AF_joint_XX=0.850653;gnomADv4_1_AF_joint_XY=0.842102;gnomADv4_1_AN_grpmax_joint=67338;gnomADv4_1_AN_joint=149718;gnomADv4_1_AN_joint_XX=76734;gnomADv4_1_AN_joint_XY=72984;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=53867;gnomADv4_1_nhomalt_joint_XX=27884;gnomADv4_1_nhomalt_joint_XY=25983;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29155884 chr22_29155884_A_G A G 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.55;CADD_Rawscore=-0.169435;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-11160A>G|||||||rs132289||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29155884A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs132289|1115|1||HGNC|HGNC:17550|4||||||||Ensembl||A|A||1||chr22:g.29155884A>G|||1||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-11160A>G|||||||rs132289||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29155884A>G|||1||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-38|2|47|10;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=149797;gnomADv4_1_AC_joint_XX=76638;gnomADv4_1_AC_joint_XY=73159;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.985896;gnomADv4_1_AF_joint_XX=0.986256;gnomADv4_1_AF_joint_XY=0.985519;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151940;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74234;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73854;gnomADv4_1_nhomalt_joint_XX=37804;gnomADv4_1_nhomalt_joint_XY=36050;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29155912 chr22_29155912_C_T C T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.412;CADD_Rawscore=-0.241877;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-11132C>T|||||||rs132290||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29155912C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs132290|1143|1||HGNC|HGNC:17550|4||||||||Ensembl||C|C||1||chr22:g.29155912C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-11132C>T|||||||rs132290||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29155912C>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|50|-26|-18|32;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=79221;gnomADv4_1_AC_joint_XX=40796;gnomADv4_1_AC_joint_XY=38425;gnomADv4_1_AF_grpmax_joint=0.690574;gnomADv4_1_AF_joint=0.524247;gnomADv4_1_AF_joint_XX=0.527284;gnomADv4_1_AF_joint_XY=0.521059;gnomADv4_1_AN_grpmax_joint=67874;gnomADv4_1_AN_joint=151114;gnomADv4_1_AN_joint_XX=77370;gnomADv4_1_AN_joint_XY=73744;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25052;gnomADv4_1_nhomalt_joint_XX=13077;gnomADv4_1_nhomalt_joint_XY=11975;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29155959 chr22_29155959_CAA_C CAA C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=3.764;CADDIndel_Rawscore=0.344265;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-11071_1417-11070del|||||||rs11320591||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||AA|AA||1|13|chr22:g.29155973_29155974del|||||||||||||,-|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs11320591|1191|1||HGNC|HGNC:17550|4||||||||Ensembl||AA|AA||1||chr22:g.29155973_29155974del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-11071_1417-11070del|||||||rs11320591||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||AA|AA|||13|chr22:g.29155973_29155974del|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-28|37|-15|9;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=78072;gnomADv4_1_AC_joint_XX=40381;gnomADv4_1_AC_joint_XY=37691;gnomADv4_1_AF_grpmax_joint=0.687143;gnomADv4_1_AF_joint=0.527635;gnomADv4_1_AF_joint_XX=0.530659;gnomADv4_1_AF_joint_XY=0.524433;gnomADv4_1_AN_grpmax_joint=67184;gnomADv4_1_AN_joint=147966;gnomADv4_1_AN_joint_XX=76096;gnomADv4_1_AN_joint_XY=71870;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=24379;gnomADv4_1_nhomalt_joint_XX=12787;gnomADv4_1_nhomalt_joint_XY=11592;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29156167 chr22_29156167_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.916;CADD_Rawscore=-0.040433;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-10877T>C|||||||rs469982||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29156167T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs469982|1398|1||HGNC|HGNC:17550|4||||||||Ensembl||T|T||1||chr22:g.29156167T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-10877T>C|||||||rs469982||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29156167T>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|48|-45|3|5;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=146914;gnomADv4_1_AC_joint_XX=75097;gnomADv4_1_AC_joint_XY=71817;gnomADv4_1_AF_grpmax_joint=0.999613;gnomADv4_1_AF_joint=0.964762;gnomADv4_1_AF_joint_XX=0.964984;gnomADv4_1_AF_joint_XY=0.96453;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152280;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74458;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70903;gnomADv4_1_nhomalt_joint_XX=36251;gnomADv4_1_nhomalt_joint_XY=34652;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29156288 chr22_29156288_T_G T G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=8.063;CADD_Rawscore=0.775771;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-10756T>G|||||||rs116967489||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29156288T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs116967489|1519|1||HGNC|HGNC:17550|4||||||||Ensembl||T|T||1||chr22:g.29156288T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-10756T>G|||||||rs116967489||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29156288T>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|23|37|36|-2;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=3943;gnomADv4_1_AC_joint_XX=2073;gnomADv4_1_AC_joint_XY=1870;gnomADv4_1_AF_grpmax_joint=0.0398977;gnomADv4_1_AF_joint=0.0258826;gnomADv4_1_AF_joint_XX=0.0266309;gnomADv4_1_AF_joint_XY=0.0251007;gnomADv4_1_AN_grpmax_joint=68024;gnomADv4_1_AN_joint=152342;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74500;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76;gnomADv4_1_nhomalt_joint_XX=47;gnomADv4_1_nhomalt_joint_XY=29;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29156344 chr22_29156344_G_C G C 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=5.939;CADD_Rawscore=0.547069;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-10700G>C|||||||rs5763006||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29156344G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs5763006|1575|1||HGNC|HGNC:17550|4||||||||Ensembl||G|G||1||chr22:g.29156344G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-10700G>C|||||||rs5763006||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29156344G>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-19|-31|-19|-1;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=126062;gnomADv4_1_AC_joint_XX=64660;gnomADv4_1_AC_joint_XY=61402;gnomADv4_1_AF_grpmax_joint=0.901117;gnomADv4_1_AF_joint=0.827906;gnomADv4_1_AF_joint_XX=0.831041;gnomADv4_1_AF_joint_XY=0.824631;gnomADv4_1_AN_grpmax_joint=68030;gnomADv4_1_AN_joint=152266;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=52928;gnomADv4_1_nhomalt_joint_XX=27259;gnomADv4_1_nhomalt_joint_XY=25669;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29156544 chr22_29156544_TGGAATGCTCTCCGCACA_T TGGAATGCTCTCCGCACA T 49 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=4.97;CADDIndel_Rawscore=0.453009;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-10479_1417-10463del|||||||rs132291||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||GGAATGCTCTCCGCACA|GGAATGCTCTCCGCACA||1|20|chr22:g.29156565_29156581del|||||||||||||,-|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs132291|1776|1||HGNC|HGNC:17550|4||||||||Ensembl||GGAATGCTCTCCGCACA|GGAATGCTCTCCGCACA||1||chr22:g.29156565_29156581del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-10479_1417-10463del|||||||rs132291||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||GGAATGCTCTCCGCACA|GGAATGCTCTCCGCACA|||20|chr22:g.29156565_29156581del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FKGJ|enhancer||||||||||rs132291|||||||||||||||||||||chr22:g.29156565_29156581del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5,ENSR22_9FKGJ;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=141334;gnomADv4_1_AC_joint_XX=72293;gnomADv4_1_AC_joint_XY=69041;gnomADv4_1_AF_grpmax_joint=0.996887;gnomADv4_1_AF_joint=0.930319;gnomADv4_1_AF_joint_XX=0.930723;gnomADv4_1_AF_joint_XY=0.929895;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74246;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=65816;gnomADv4_1_nhomalt_joint_XX=33682;gnomADv4_1_nhomalt_joint_XY=32134;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29157019 chr22_29157019_T_A T A 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=3.817;CADD_Rawscore=0.348953;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-10025T>A|||||||rs132292||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29157019T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs132292|2250|1||HGNC|HGNC:17550|4||||||||Ensembl||T|T||1||chr22:g.29157019T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-10025T>A|||||||rs132292||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29157019T>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|2|-37|4|-6;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=128872;gnomADv4_1_AC_joint_XX=66168;gnomADv4_1_AC_joint_XY=62704;gnomADv4_1_AF_grpmax_joint=0.900647;gnomADv4_1_AF_joint=0.846772;gnomADv4_1_AF_joint_XX=0.85062;gnomADv4_1_AF_joint_XY=0.84275;gnomADv4_1_AN_grpmax_joint=68020;gnomADv4_1_AN_joint=152192;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=54936;gnomADv4_1_nhomalt_joint_XX=28339;gnomADv4_1_nhomalt_joint_XY=26597;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29157144 chr22_29157144_G_GC G GC 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=2.305;CADDIndel_Rawscore=0.201821;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-9900_1417-9899insC|||||||rs132293||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1||chr22:g.29157144_29157145insC|||||||||||||,C|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs132293|2375|1||HGNC|HGNC:17550|4||||||||Ensembl|||||1||chr22:g.29157144_29157145insC|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-9900_1417-9899insC|||||||rs132293||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq|||||||chr22:g.29157144_29157145insC|||||||||||||;SpliceAI=GC|KREMEN1|0.00|0.00|0.00|0.00|-37|1|-35|46;TYPE=INDEL;VEP_Allele=C,C,C;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=152356;gnomADv4_1_AC_joint_XX=77858;gnomADv4_1_AC_joint_XY=74498;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68044;gnomADv4_1_AN_joint=152356;gnomADv4_1_AN_joint_XX=77858;gnomADv4_1_AN_joint_XY=74498;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76178;gnomADv4_1_nhomalt_joint_XX=38929;gnomADv4_1_nhomalt_joint_XY=37249;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29157967 chr22_29157967_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.029;CADD_Rawscore=-0.947498;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-9077A>G|||||||rs132294||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29157967A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs132294|3198|1||HGNC|HGNC:17550|4||||||||Ensembl||A|A||1||chr22:g.29157967A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-9077A>G|||||||rs132294||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29157967A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8T5XS|enhancer||||||||||rs132294|||||||||||||||||||||chr22:g.29157967A>G|||||||||||||;SpliceAI=G|KREMEN1|0.02|0.00|0.00|0.00|-5|2|34|2;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5,ENSR22_8T5XS;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,ENSG00000183762,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=141088;gnomADv4_1_AC_joint_XX=72124;gnomADv4_1_AC_joint_XY=68964;gnomADv4_1_AF_grpmax_joint=0.997298;gnomADv4_1_AF_joint=0.926406;gnomADv4_1_AF_joint_XX=0.926758;gnomADv4_1_AF_joint_XY=0.926039;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152296;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=65421;gnomADv4_1_nhomalt_joint_XX=33464;gnomADv4_1_nhomalt_joint_XY=31957;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29158195 chr22_29158195_C_A C A 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=3.982;CADD_Rawscore=0.363645;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-8849C>A|||||||rs469983||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29158195C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs469983|3426|1||HGNC|HGNC:17550|4||||||||Ensembl||C|C||1||chr22:g.29158195C>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-8849C>A|||||||rs469983||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29158195C>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|31|1|-16|-29;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=128835;gnomADv4_1_AC_joint_XX=66162;gnomADv4_1_AC_joint_XY=62673;gnomADv4_1_AF_grpmax_joint=0.900647;gnomADv4_1_AF_joint=0.846741;gnomADv4_1_AF_joint_XX=0.850652;gnomADv4_1_AF_joint_XY=0.842651;gnomADv4_1_AN_grpmax_joint=68000;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=54916;gnomADv4_1_nhomalt_joint_XX=28334;gnomADv4_1_nhomalt_joint_XY=26582;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29158542 chr22_29158542_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.748;CADD_Rawscore=0.1283;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-8502A>G|||||||rs132295||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29158542A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs132295|3773|1||HGNC|HGNC:17550|4||||||||Ensembl||A|A||1||chr22:g.29158542A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-8502A>G|||||||rs132295||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29158542A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|0|-41|-1|16;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=130760;gnomADv4_1_AC_joint_XX=66647;gnomADv4_1_AC_joint_XY=64113;gnomADv4_1_AF_grpmax_joint=0.997304;gnomADv4_1_AF_joint=0.85902;gnomADv4_1_AF_joint_XX=0.856689;gnomADv4_1_AF_joint_XY=0.861456;gnomADv4_1_AN_grpmax_joint=5192;gnomADv4_1_AN_joint=152220;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=57474;gnomADv4_1_nhomalt_joint_XX=29248;gnomADv4_1_nhomalt_joint_XY=28226;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29158644 chr22_29158644_G_A G A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.17;CADD_Rawscore=0.023015;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-8400G>A|||||||rs111695364||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29158644G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs111695364|3875|1||HGNC|HGNC:17550|4||||||||Ensembl||G|G||1||chr22:g.29158644G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-8400G>A|||||||rs111695364||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29158644G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|18|7|16|37;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=325;gnomADv4_1_AC_joint_XX=164;gnomADv4_1_AC_joint_XY=161;gnomADv4_1_AF_grpmax_joint=0.0102041;gnomADv4_1_AF_joint=0.00213543;gnomADv4_1_AF_joint_XX=0.00210857;gnomADv4_1_AF_joint_XY=0.00216351;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=3;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29159062 chr22_29159062_C_T C T 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.441;CADD_Rawscore=-0.224656;CSQ=T|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-7982C>T|||||||rs132296||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29159062C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs132296|4293|1||HGNC|HGNC:17550|4||||||||Ensembl||C|C||1||chr22:g.29159062C>T|||||||||||||,T|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-7982C>T|||||||rs132296||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29159062C>T|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|-32|36|47|-7;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=127859;gnomADv4_1_AC_joint_XX=65815;gnomADv4_1_AC_joint_XY=62044;gnomADv4_1_AF_grpmax_joint=0.900642;gnomADv4_1_AF_joint=0.846961;gnomADv4_1_AF_joint_XX=0.850851;gnomADv4_1_AF_joint_XY=0.842875;gnomADv4_1_AN_grpmax_joint=67926;gnomADv4_1_AN_joint=150962;gnomADv4_1_AN_joint_XX=77352;gnomADv4_1_AN_joint_XY=73610;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=54515;gnomADv4_1_nhomalt_joint_XX=28197;gnomADv4_1_nhomalt_joint_XY=26318;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29159128 chr22_29159128_T_TG T TG 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=45;CADDIndel_PHREDscore=1.086;CADDIndel_Rawscore=0.003573;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-7916_1417-7915insG|||||||rs572934630||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1||chr22:g.29159128_29159129insG|||||||||||||,G|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs572934630|4359|1||HGNC|HGNC:17550|4||||||||Ensembl|||||1||chr22:g.29159128_29159129insG|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-7916_1417-7915insG|||||||rs572934630||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq|||||||chr22:g.29159128_29159129insG|||||||||||||;SpliceAI=TG|KREMEN1|0.00|0.00|0.00|0.00|25|23|0|-19;TYPE=INDEL;VEP_Allele=G,G,G;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=94221;gnomADv4_1_AC_joint_XX=49407;gnomADv4_1_AC_joint_XY=44814;gnomADv4_1_AF_grpmax_joint=0.967306;gnomADv4_1_AF_joint=0.785712;gnomADv4_1_AF_joint_XX=0.78586;gnomADv4_1_AF_joint_XY=0.785549;gnomADv4_1_AN_grpmax_joint=4068;gnomADv4_1_AN_joint=119918;gnomADv4_1_AN_joint_XX=62870;gnomADv4_1_AN_joint_XY=57048;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=37107;gnomADv4_1_nhomalt_joint_XX=19469;gnomADv4_1_nhomalt_joint_XY=17638;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29159401 chr22_29159401_T_A T A 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.96;CADD_Rawscore=0.158552;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-7643T>A|||||||rs132297||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29159401T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs132297|4632|1||HGNC|HGNC:17550|4||||||||Ensembl||T|T||1||chr22:g.29159401T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-7643T>A|||||||rs132297||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29159401T>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|-11|-28|36|-12;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=136749;gnomADv4_1_AC_joint_XX=70013;gnomADv4_1_AC_joint_XY=66736;gnomADv4_1_AF_grpmax_joint=0.997038;gnomADv4_1_AF_joint=0.900909;gnomADv4_1_AF_joint_XX=0.901927;gnomADv4_1_AF_joint_XY=0.899844;gnomADv4_1_AN_grpmax_joint=5064;gnomADv4_1_AN_joint=151790;gnomADv4_1_AN_joint_XX=77626;gnomADv4_1_AN_joint_XY=74164;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61721;gnomADv4_1_nhomalt_joint_XX=31635;gnomADv4_1_nhomalt_joint_XY=30086;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29159651 chr22_29159651_TAAAC_T TAAAC T 49 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.54;CADDIndel_Rawscore=-0.174031;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-7387_1417-7384del|||||||rs132298||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||AAAC|AAAC||1|5|chr22:g.29159657_29159660del|||||||||||||,-|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000479755|protein_coding_CDS_not_defined||||||||||rs132298|4883|1||HGNC|HGNC:17550|4||||||||Ensembl||AAAC|AAAC||1||chr22:g.29159657_29159660del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-7387_1417-7384del|||||||rs132298||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||AAAC|AAAC|||5|chr22:g.29159657_29159660del|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|-48|15|-29|23;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000327813,ENST00000479755,NM_032045.5;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000183762,ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=128408;gnomADv4_1_AC_joint_XX=65985;gnomADv4_1_AC_joint_XY=62423;gnomADv4_1_AF_grpmax_joint=0.901132;gnomADv4_1_AF_joint=0.84972;gnomADv4_1_AF_joint_XX=0.853379;gnomADv4_1_AF_joint_XY=0.845886;gnomADv4_1_AN_grpmax_joint=67868;gnomADv4_1_AN_joint=151118;gnomADv4_1_AN_joint_XX=77322;gnomADv4_1_AN_joint_XY=73796;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=54715;gnomADv4_1_nhomalt_joint_XX=28254;gnomADv4_1_nhomalt_joint_XY=26461;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29160066 chr22_29160066_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.971;CADD_Rawscore=-0.025373;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-6978T>C|||||||rs132299||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29160066T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-6978T>C|||||||rs132299||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29160066T>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-7|50|26|-37;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=137065;gnomADv4_1_AC_joint_XX=70125;gnomADv4_1_AC_joint_XY=66940;gnomADv4_1_AF_grpmax_joint=0.997295;gnomADv4_1_AF_joint=0.900831;gnomADv4_1_AF_joint_XX=0.901813;gnomADv4_1_AF_joint_XY=0.899804;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61866;gnomADv4_1_nhomalt_joint_XX=31686;gnomADv4_1_nhomalt_joint_XY=30180;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29160331 chr22_29160331_G_C G C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.041;CADD_Rawscore=0.169333;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-6713G>C|||||||rs132300||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29160331G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-6713G>C|||||||rs132300||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29160331G>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-14|18|18|-14;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=127435;gnomADv4_1_AC_joint_XX=65593;gnomADv4_1_AC_joint_XY=61842;gnomADv4_1_AF_grpmax_joint=0.901139;gnomADv4_1_AF_joint=0.846013;gnomADv4_1_AF_joint_XX=0.84987;gnomADv4_1_AF_joint_XY=0.841961;gnomADv4_1_AN_grpmax_joint=67772;gnomADv4_1_AN_joint=150630;gnomADv4_1_AN_joint_XX=77180;gnomADv4_1_AN_joint_XY=73450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=54269;gnomADv4_1_nhomalt_joint_XX=28070;gnomADv4_1_nhomalt_joint_XY=26199;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29160376 chr22_29160376_C_CA C CA 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=0.843;CADDIndel_Rawscore=-0.061877;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-6654dup|||||||rs132301||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|14|chr22:g.29160390dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-6654dup|||||||rs132301||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||14|chr22:g.29160390dup|||||||||||||;SpliceAI=CA|KREMEN1|0.00|0.00|0.00|0.00|35|40|-4|-27;TYPE=INDEL;VEP_Allele=A,A;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=126399;gnomADv4_1_AC_joint_XX=65780;gnomADv4_1_AC_joint_XY=60619;gnomADv4_1_AF_grpmax_joint=0.991192;gnomADv4_1_AF_joint=0.896307;gnomADv4_1_AF_joint_XX=0.898511;gnomADv4_1_AF_joint_XY=0.893927;gnomADv4_1_AN_grpmax_joint=4882;gnomADv4_1_AN_joint=141022;gnomADv4_1_AN_joint_XX=73210;gnomADv4_1_AN_joint_XY=67812;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56621;gnomADv4_1_nhomalt_joint_XX=29545;gnomADv4_1_nhomalt_joint_XY=27076;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29160525 chr22_29160525_C_G C G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.485;CADD_Rawscore=-0.200891;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-6519C>G|||||||rs132302||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29160525C>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-6519C>G|||||||rs132302||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29160525C>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|5|-13|-1|-9;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=132303;gnomADv4_1_AC_joint_XX=68251;gnomADv4_1_AC_joint_XY=64052;gnomADv4_1_AF_grpmax_joint=0.997065;gnomADv4_1_AF_joint=0.906495;gnomADv4_1_AF_joint_XX=0.907376;gnomADv4_1_AF_joint_XY=0.905559;gnomADv4_1_AN_grpmax_joint=5110;gnomADv4_1_AN_joint=145950;gnomADv4_1_AN_joint_XX=75218;gnomADv4_1_AN_joint_XY=70732;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=59972;gnomADv4_1_nhomalt_joint_XX=30971;gnomADv4_1_nhomalt_joint_XY=29001;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29160539 chr22_29160539_CAAAAAA_C CAAAAAA C 47 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.642;CADDIndel_Rawscore=-0.130833;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-6486_1417-6481del|||||||rs132303||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||AAAAAA|AAAAAA||1|18|chr22:g.29160558_29160563del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-6486_1417-6481del|||||||rs132303||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||AAAAAA|AAAAAA|||18|chr22:g.29160558_29160563del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=68370;gnomADv4_1_AC_joint_XX=36374;gnomADv4_1_AC_joint_XY=31996;gnomADv4_1_AF_grpmax_joint=0.77551;gnomADv4_1_AF_joint=0.657341;gnomADv4_1_AF_joint_XX=0.659666;gnomADv4_1_AF_joint_XY=0.654717;gnomADv4_1_AN_grpmax_joint=196;gnomADv4_1_AN_joint=104010;gnomADv4_1_AN_joint_XX=55140;gnomADv4_1_AN_joint_XY=48870;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=20791;gnomADv4_1_nhomalt_joint_XX=11128;gnomADv4_1_nhomalt_joint_XY=9663;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29160751 chr22_29160751_G_A G A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.431;CADD_Rawscore=-0.23013;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-6293G>A|||||||rs132304||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29160751G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-6293G>A|||||||rs132304||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29160751G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|2|-28|-4|23;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=131173;gnomADv4_1_AC_joint_XX=67172;gnomADv4_1_AC_joint_XY=64001;gnomADv4_1_AF_grpmax_joint=0.924305;gnomADv4_1_AF_joint=0.86239;gnomADv4_1_AF_joint_XX=0.863882;gnomADv4_1_AF_joint_XY=0.86083;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152104;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=56595;gnomADv4_1_nhomalt_joint_XX=29045;gnomADv4_1_nhomalt_joint_XY=27550;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29160989 chr22_29160989_CAAAG_C CAAAG C 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=1.266;CADDIndel_Rawscore=0.043643;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-6049_1417-6046del|||||||rs132305||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||AAAG|AAAG||1|5|chr22:g.29160995_29160998del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-6049_1417-6046del|||||||rs132305||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||AAAG|AAAG|||5|chr22:g.29160995_29160998del|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-10|-35|42|23;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=80437;gnomADv4_1_AC_joint_XX=41285;gnomADv4_1_AC_joint_XY=39152;gnomADv4_1_AF_grpmax_joint=0.774932;gnomADv4_1_AF_joint=0.530496;gnomADv4_1_AF_joint_XX=0.532105;gnomADv4_1_AF_joint_XY=0.52881;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151626;gnomADv4_1_AN_joint_XX=77588;gnomADv4_1_AN_joint_XY=74038;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=25799;gnomADv4_1_nhomalt_joint_XX=13387;gnomADv4_1_nhomalt_joint_XY=12412;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29161269 chr22_29161269_G_A G A 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.739;CADD_Rawscore=-0.095356;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-5775G>A|||||||rs132306||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29161269G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-5775G>A|||||||rs132306||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29161269G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|-47|16|7|-38;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=86376;gnomADv4_1_AC_joint_XX=44344;gnomADv4_1_AC_joint_XY=42032;gnomADv4_1_AF_grpmax_joint=0.747475;gnomADv4_1_AF_joint=0.569732;gnomADv4_1_AF_joint_XX=0.571871;gnomADv4_1_AF_joint_XY=0.567494;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=151608;gnomADv4_1_AN_joint_XX=77542;gnomADv4_1_AN_joint_XY=74066;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=28705;gnomADv4_1_nhomalt_joint_XX=14889;gnomADv4_1_nhomalt_joint_XY=13816;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29161304 chr22_29161304_G_A G A 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.624;CADD_Rawscore=-0.137876;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-5740G>A|||||||rs132307||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29161304G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-5740G>A|||||||rs132307||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29161304G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|29|-28|-12|-28;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=36558;gnomADv4_1_AC_joint_XX=18208;gnomADv4_1_AC_joint_XY=18350;gnomADv4_1_AF_grpmax_joint=0.642885;gnomADv4_1_AF_joint=0.241224;gnomADv4_1_AF_joint_XX=0.234881;gnomADv4_1_AF_joint_XY=0.247866;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=151552;gnomADv4_1_AN_joint_XX=77520;gnomADv4_1_AN_joint_XY=74032;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5025;gnomADv4_1_nhomalt_joint_XX=2408;gnomADv4_1_nhomalt_joint_XY=2617;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29161506 chr22_29161506_CAA_C CAA C 23 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=23;CADDIndel_PHREDscore=1.09;CADDIndel_Rawscore=0.004469;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-5514_1417-5513del|||||||rs35296953||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||AA|AA||1|23|chr22:g.29161530_29161531del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-5514_1417-5513del|||||||rs35296953||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||AA|AA|||23|chr22:g.29161530_29161531del|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-27|27|26|-15;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=25784;gnomADv4_1_AC_joint_XX=14419;gnomADv4_1_AC_joint_XY=11365;gnomADv4_1_AF_grpmax_joint=0.564103;gnomADv4_1_AF_joint=0.408803;gnomADv4_1_AF_joint_XX=0.409119;gnomADv4_1_AF_joint_XY=0.408402;gnomADv4_1_AN_grpmax_joint=78;gnomADv4_1_AN_joint=63072;gnomADv4_1_AN_joint_XX=35244;gnomADv4_1_AN_joint_XY=27828;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1251;gnomADv4_1_nhomalt_joint_XX=579;gnomADv4_1_nhomalt_joint_XY=672;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29162407 chr22_29162407_TC_T TC T 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=3.191;CADDIndel_Rawscore=0.292444;CSQ=-|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-4632del|||||||rs35322672||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1|4|chr22:g.29162412del|||||||||||||,-|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-4632del|||||||rs35322672||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C|||4|chr22:g.29162412del|||||||||||||;SpliceAI=T|KREMEN1|0.00|0.00|0.00|0.00|-16|-35|-25|-17;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=49101;gnomADv4_1_AC_joint_XX=25122;gnomADv4_1_AC_joint_XY=23979;gnomADv4_1_AF_grpmax_joint=0.562237;gnomADv4_1_AF_joint=0.323629;gnomADv4_1_AF_joint_XX=0.323762;gnomADv4_1_AF_joint_XY=0.32349;gnomADv4_1_AN_grpmax_joint=41342;gnomADv4_1_AN_joint=151720;gnomADv4_1_AN_joint_XX=77594;gnomADv4_1_AN_joint_XY=74126;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9865;gnomADv4_1_nhomalt_joint_XX=5098;gnomADv4_1_nhomalt_joint_XY=4767;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29162866 chr22_29162866_A_G A G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.853;CADD_Rawscore=-0.058663;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-4178A>G|||||||rs2881802||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29162866A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-4178A>G|||||||rs2881802||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29162866A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-28|-11|29|-11;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=49737;gnomADv4_1_AC_joint_XX=25427;gnomADv4_1_AC_joint_XY=24310;gnomADv4_1_AF_grpmax_joint=0.573491;gnomADv4_1_AF_joint=0.32689;gnomADv4_1_AF_joint_XX=0.327002;gnomADv4_1_AF_joint_XY=0.326774;gnomADv4_1_AN_grpmax_joint=41488;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10192;gnomADv4_1_nhomalt_joint_XX=5257;gnomADv4_1_nhomalt_joint_XY=4935;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29163169 chr22_29163169_A_G A G 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.226;CADD_Rawscore=0.192368;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-3875A>G|||||||rs132308||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29163169A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-3875A>G|||||||rs132308||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29163169A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|28|49|-5|-9;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=139259;gnomADv4_1_AC_joint_XX=71469;gnomADv4_1_AC_joint_XY=67790;gnomADv4_1_AF_grpmax_joint=0.931973;gnomADv4_1_AF_joint=0.915696;gnomADv4_1_AF_joint_XX=0.919097;gnomADv4_1_AF_joint_XY=0.912137;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=64003;gnomADv4_1_nhomalt_joint_XX=32951;gnomADv4_1_nhomalt_joint_XY=31052;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29164746 chr22_29164746_C_CA C CA 22 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=22;CADDIndel_PHREDscore=0.922;CADDIndel_Rawscore=-0.038857;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-2288dup|||||||rs34444682||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1|10|chr22:g.29164756dup|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-2288dup|||||||rs34444682||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||||||10|chr22:g.29164756dup|||||||||||||;SpliceAI=CA|KREMEN1|0.00|0.00|0.00|0.00|28|-28|11|6;TYPE=INDEL;VEP_Allele=A,A;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=37452;gnomADv4_1_AC_joint_XX=21295;gnomADv4_1_AC_joint_XY=16157;gnomADv4_1_AF_grpmax_joint=0.619565;gnomADv4_1_AF_joint=0.550441;gnomADv4_1_AF_joint_XX=0.562913;gnomADv4_1_AF_joint_XY=0.534823;gnomADv4_1_AN_grpmax_joint=92;gnomADv4_1_AN_joint=68040;gnomADv4_1_AN_joint_XX=37830;gnomADv4_1_AN_joint_XY=30210;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=10037;gnomADv4_1_nhomalt_joint_XX=5840;gnomADv4_1_nhomalt_joint_XY=4197;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29164757 chr22_29164757_C_A C A 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.369;CADD_Rawscore=-0.269434;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-2287C>A|||||||rs132309||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29164757C>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-2287C>A|||||||rs132309||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29164757C>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|-39|3|-11|46;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=117463;gnomADv4_1_AC_joint_XX=62506;gnomADv4_1_AC_joint_XY=54957;gnomADv4_1_AF_grpmax_joint=0.932867;gnomADv4_1_AF_joint=0.90948;gnomADv4_1_AF_joint_XX=0.914633;gnomADv4_1_AF_joint_XY=0.90369;gnomADv4_1_AN_grpmax_joint=65184;gnomADv4_1_AN_joint=129154;gnomADv4_1_AN_joint_XX=68340;gnomADv4_1_AN_joint_XY=60814;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=53366;gnomADv4_1_nhomalt_joint_XX=28546;gnomADv4_1_nhomalt_joint_XY=24820;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29164902 chr22_29164902_T_C T C 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.607;CADD_Rawscore=-0.144667;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-2142T>C|||||||rs132311||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29164902T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-2142T>C|||||||rs132311||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29164902T>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-22|42|1|-48;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=139274;gnomADv4_1_AC_joint_XX=71474;gnomADv4_1_AC_joint_XY=67800;gnomADv4_1_AF_grpmax_joint=0.931973;gnomADv4_1_AF_joint=0.915445;gnomADv4_1_AF_joint_XX=0.918902;gnomADv4_1_AF_joint_XY=0.91183;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=63994;gnomADv4_1_nhomalt_joint_XX=32947;gnomADv4_1_nhomalt_joint_XY=31047;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29164966 chr22_29164966_G_A G A 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.497;CADD_Rawscore=-0.194657;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-2078G>A|||||||rs132312||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29164966G>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-2078G>A|||||||rs132312||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29164966G>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|-22|13|25|0;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=134245;gnomADv4_1_AC_joint_XX=68839;gnomADv4_1_AC_joint_XY=65406;gnomADv4_1_AF_grpmax_joint=0.930711;gnomADv4_1_AF_joint=0.885182;gnomADv4_1_AF_joint_XX=0.887581;gnomADv4_1_AF_joint_XY=0.882672;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=151658;gnomADv4_1_AN_joint_XX=77558;gnomADv4_1_AN_joint_XY=74100;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=59832;gnomADv4_1_nhomalt_joint_XX=30768;gnomADv4_1_nhomalt_joint_XY=29064;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29165114 chr22_29165114_T_A T A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.447;CADD_Rawscore=0.078628;CSQ=A|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-1930T>A|||||||rs132313||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29165114T>A|||||||||||||,A|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-1930T>A|||||||rs132313||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29165114T>A|||||||||||||;SpliceAI=A|KREMEN1|0.00|0.00|0.00|0.00|2|31|-9|0;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=134536;gnomADv4_1_AC_joint_XX=68954;gnomADv4_1_AC_joint_XY=65582;gnomADv4_1_AF_grpmax_joint=0.930685;gnomADv4_1_AF_joint=0.884907;gnomADv4_1_AF_joint_XX=0.887393;gnomADv4_1_AF_joint_XY=0.882309;gnomADv4_1_AN_grpmax_joint=67994;gnomADv4_1_AN_joint=152034;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=59961;gnomADv4_1_nhomalt_joint_XX=30819;gnomADv4_1_nhomalt_joint_XY=29142;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29165184 chr22_29165184_A_G A G 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=27;CADD_PHREDscore=2.438;CADD_Rawscore=0.216868;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-1860A>G|||||||rs2039042891||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29165184A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-1860A>G|||||||rs2039042891||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29165184A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-39|13|-39|-6;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29165838 chr22_29165838_T_G T G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.561;CADD_Rawscore=0.098647;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-1206T>G|||||||rs132314||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29165838T>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-1206T>G|||||||rs132314||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29165838T>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|26|15|26|-47;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=143569;gnomADv4_1_AC_joint_XX=73640;gnomADv4_1_AC_joint_XY=69929;gnomADv4_1_AF_grpmax_joint=0.9833;gnomADv4_1_AF_joint=0.94292;gnomADv4_1_AF_joint_XX=0.946189;gnomADv4_1_AF_joint_XY=0.939502;gnomADv4_1_AN_grpmax_joint=41556;gnomADv4_1_AN_joint=152260;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=67919;gnomADv4_1_nhomalt_joint_XX=34937;gnomADv4_1_nhomalt_joint_XY=32982;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29166095 chr22_29166095_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.132;CADD_Rawscore=0.014364;CSQ=G|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-949A>G|||||||rs132315||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29166095A>G|||||||||||||,G|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-949A>G|||||||rs132315||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29166095A>G|||||||||||||;SpliceAI=G|KREMEN1|0.00|0.00|0.00|0.00|-24|-2|11|-3;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=143840;gnomADv4_1_AC_joint_XX=73782;gnomADv4_1_AC_joint_XY=70058;gnomADv4_1_AF_grpmax_joint=0.987757;gnomADv4_1_AF_joint=0.944365;gnomADv4_1_AF_joint_XX=0.947892;gnomADv4_1_AF_joint_XY=0.940679;gnomADv4_1_AN_grpmax_joint=41576;gnomADv4_1_AN_joint=152314;gnomADv4_1_AN_joint_XX=77838;gnomADv4_1_AN_joint_XY=74476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=68156;gnomADv4_1_nhomalt_joint_XX=35068;gnomADv4_1_nhomalt_joint_XY=33088;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29166862 chr22_29166862_G_C G C 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.217;CADD_Rawscore=0.033215;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-182G>C|||||||rs10427585||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29166862G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-182G>C|||||||rs10427585||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29166862G>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-42|-1|12|-1;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=7678;gnomADv4_1_AC_joint_XX=3657;gnomADv4_1_AC_joint_XY=4021;gnomADv4_1_AF_grpmax_joint=0.110232;gnomADv4_1_AF_joint=0.0504342;gnomADv4_1_AF_joint_XX=0.0470076;gnomADv4_1_AF_joint_XY=0.0540152;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=270;gnomADv4_1_nhomalt_joint_XX=116;gnomADv4_1_nhomalt_joint_XY=154;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29166865 chr22_29166865_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.106;CADD_Rawscore=-0.595173;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-179T>C|||||||rs132316||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29166865T>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-179T>C|||||||rs132316||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29166865T>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-45|40|9|-2;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=143735;gnomADv4_1_AC_joint_XX=73736;gnomADv4_1_AC_joint_XY=69999;gnomADv4_1_AF_grpmax_joint=0.98773;gnomADv4_1_AF_joint=0.944023;gnomADv4_1_AF_joint_XX=0.947496;gnomADv4_1_AF_joint_XY=0.940392;gnomADv4_1_AN_grpmax_joint=41566;gnomADv4_1_AN_joint=152258;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=68081;gnomADv4_1_nhomalt_joint_XX=35033;gnomADv4_1_nhomalt_joint_XY=33048;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29166905 chr22_29166905_G_C G C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.068;CADD_Rawscore=-0.717744;CSQ=C|intron_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||9/9|ENST00000327813.9:c.1417-139G>C|||||||rs132317||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29166905G>C|||||||||||||,C|intron_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||9/9|NM_032045.5:c.1417-139G>C|||||||rs132317||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29166905G>C|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|-31|12|12|4;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=602735;gnomADv4_1_AC_joint_XX=291581;gnomADv4_1_AC_joint_XY=311154;gnomADv4_1_AF_grpmax_joint=0.931188;gnomADv4_1_AF_joint=0.891567;gnomADv4_1_AF_joint_XX=0.901048;gnomADv4_1_AF_joint_XY=0.882862;gnomADv4_1_AN_grpmax_joint=46896;gnomADv4_1_AN_joint=676040;gnomADv4_1_AN_joint_XX=323602;gnomADv4_1_AN_joint_XY=352438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=270820;gnomADv4_1_nhomalt_joint_XX=132066;gnomADv4_1_nhomalt_joint_XY=138754;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29167896 chr22_29167896_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.583;CADD_Rawscore=0.102205;CSQ=C|3_prime_UTR_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding|10/10||ENST00000327813.9:c.*790T>C||2282|||||rs713924||1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29167896T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding|10/10||NM_032045.5:c.*790T>C||2365|||||rs713924||1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29167896T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4W5W|enhancer||||||||||rs713924|||||||||||||||||||||chr22:g.29167896T>C|||||||||||||;SpliceAI=C|KREMEN1|0.04|0.00|0.00|0.00|-11|14|8|-12;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000327813,NM_032045.5,ENSR22_C4W5W;VEP_Feature_type=Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000183762,83999,.;VEP_SYMBOL=KREMEN1,KREMEN1,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=143873;gnomADv4_1_AC_joint_XX=73775;gnomADv4_1_AC_joint_XY=70098;gnomADv4_1_AF_grpmax_joint=0.987683;gnomADv4_1_AF_joint=0.944049;gnomADv4_1_AF_joint_XX=0.947558;gnomADv4_1_AF_joint_XY=0.940383;gnomADv4_1_AN_grpmax_joint=41570;gnomADv4_1_AN_joint=152400;gnomADv4_1_AN_joint_XX=77858;gnomADv4_1_AN_joint_XY=74542;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=68145;gnomADv4_1_nhomalt_joint_XX=35051;gnomADv4_1_nhomalt_joint_XY=33094;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29168333 chr22_29168333_CA_C;chr22_29168333_C_CA CA C 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=34;CADDIndel_PHREDscore=0.897;CADDIndel_Rawscore=-0.045928;CSQ=-|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs60121498|1|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29168351del|||||||||||||,-|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs60121498|1|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29168351del|||||||||||||;SpliceAI=C|KREMEN1|0.00|0.00|0.00|0.00|2|1|10|21;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=8192;gnomADv4_1_AC_joint_XX=4308;gnomADv4_1_AC_joint_XY=3884;gnomADv4_1_AF_grpmax_joint=0.1875;gnomADv4_1_AF_joint=0.103374;gnomADv4_1_AF_joint_XX=0.102851;gnomADv4_1_AF_joint_XY=0.103961;gnomADv4_1_AN_grpmax_joint=112;gnomADv4_1_AN_joint=79246;gnomADv4_1_AN_joint_XX=41886;gnomADv4_1_AN_joint_XY=37360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=237;gnomADv4_1_nhomalt_joint_XX=131;gnomADv4_1_nhomalt_joint_XY=106;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29168333 chr22_29168333_CA_C;chr22_29168333_C_CA C CA 34 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=25;CADDIndel_PHREDscore=1.212;CADDIndel_Rawscore=0.032138;CSQ=A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs60121498|0|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl|||||1||chr22:g.29168351dup|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs60121498|0|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq|||||||chr22:g.29168351dup|||||||||||||;SpliceAI=CA|KREMEN1|0.00|0.00|0.00|0.00|2|-32|-29|9;TYPE=INDEL;VEP_Allele=A,A;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=7220;gnomADv4_1_AC_joint_XX=3874;gnomADv4_1_AC_joint_XY=3346;gnomADv4_1_AF_grpmax_joint=0.181639;gnomADv4_1_AF_joint=0.0913277;gnomADv4_1_AF_joint_XX=0.092706;gnomADv4_1_AF_joint_XY=0.0897821;gnomADv4_1_AN_grpmax_joint=22842;gnomADv4_1_AN_joint=79056;gnomADv4_1_AN_joint_XX=41788;gnomADv4_1_AN_joint_XY=37268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=352;gnomADv4_1_nhomalt_joint_XX=181;gnomADv4_1_nhomalt_joint_XY=171;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29168466 chr22_29168466_C_T C T 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=4.15;CADD_Rawscore=0.378513;CSQ=T|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs132318|133|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29168466C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs132318|133|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29168466C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=78171;gnomADv4_1_AC_joint_XX=40146;gnomADv4_1_AC_joint_XY=38025;gnomADv4_1_AF_grpmax_joint=0.682259;gnomADv4_1_AF_joint=0.514859;gnomADv4_1_AF_joint_XX=0.517092;gnomADv4_1_AF_joint_XY=0.512522;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151830;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=74192;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24301;gnomADv4_1_nhomalt_joint_XX=12617;gnomADv4_1_nhomalt_joint_XY=11684;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29168635 chr22_29168635_CA_C CA C 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=0.832;CADDIndel_Rawscore=-0.06512;CSQ=-|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs132319|303|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29168646del|||||||||||||,-|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs132319|303|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29168646del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=116968;gnomADv4_1_AC_joint_XX=60446;gnomADv4_1_AC_joint_XY=56522;gnomADv4_1_AF_grpmax_joint=0.893633;gnomADv4_1_AF_joint=0.784452;gnomADv4_1_AF_joint_XX=0.789979;gnomADv4_1_AF_joint_XY=0.778626;gnomADv4_1_AN_grpmax_joint=67352;gnomADv4_1_AN_joint=149108;gnomADv4_1_AN_joint_XX=76516;gnomADv4_1_AN_joint_XY=72592;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=47100;gnomADv4_1_nhomalt_joint_XX=24509;gnomADv4_1_nhomalt_joint_XY=22591;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29169378 chr22_29169378_G_A G A 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.301;CADD_Rawscore=-0.32094;CSQ=A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs132320|1045|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29169378G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs132320|1045|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29169378G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=78907;gnomADv4_1_AC_joint_XX=40512;gnomADv4_1_AC_joint_XY=38395;gnomADv4_1_AF_grpmax_joint=0.682908;gnomADv4_1_AF_joint=0.519535;gnomADv4_1_AF_joint_XX=0.521645;gnomADv4_1_AF_joint_XY=0.517327;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=151880;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24419;gnomADv4_1_nhomalt_joint_XX=12674;gnomADv4_1_nhomalt_joint_XY=11745;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29169800 chr22_29169800_G_C G C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.094;CADD_Rawscore=-0.627633;CSQ=C|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs132321|1467|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29169800G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs132321|1467|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29169800G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=143121;gnomADv4_1_AC_joint_XX=73406;gnomADv4_1_AC_joint_XY=69715;gnomADv4_1_AF_grpmax_joint=0.972358;gnomADv4_1_AF_joint=0.939459;gnomADv4_1_AF_joint_XX=0.942795;gnomADv4_1_AF_joint_XY=0.935973;gnomADv4_1_AN_grpmax_joint=41604;gnomADv4_1_AN_joint=152344;gnomADv4_1_AN_joint_XX=77860;gnomADv4_1_AN_joint_XY=74484;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=67439;gnomADv4_1_nhomalt_joint_XX=34691;gnomADv4_1_nhomalt_joint_XY=32748;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29170151 chr22_29170151_C_G C G 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=13.02;CADD_Rawscore=1.31593;CSQ=G|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs148674566|1818|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29170151C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs148674566|1818|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29170151C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=352;gnomADv4_1_AC_joint_XX=203;gnomADv4_1_AC_joint_XY=149;gnomADv4_1_AF_grpmax_joint=0.00778088;gnomADv4_1_AF_joint=0.00231311;gnomADv4_1_AF_joint_XX=0.00260986;gnomADv4_1_AF_joint_XY=0.00200285;gnomADv4_1_AN_grpmax_joint=41512;gnomADv4_1_AN_joint=152176;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29170196 chr22_29170196_C_T C T 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=4.713;CADD_Rawscore=0.429291;CSQ=T|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs142164244|1863|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29170196C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs142164244|1863|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29170196C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=319;gnomADv4_1_AC_joint_XX=179;gnomADv4_1_AC_joint_XY=140;gnomADv4_1_AF_grpmax_joint=0.00657261;gnomADv4_1_AF_joint=0.00209609;gnomADv4_1_AF_joint_XX=0.00230089;gnomADv4_1_AF_joint_XY=0.00188192;gnomADv4_1_AN_grpmax_joint=41536;gnomADv4_1_AN_joint=152188;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29171208 chr22_29171208_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=2.906;CADD_Rawscore=0.265335;CSQ=A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs132322|2875|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||G|G||1||chr22:g.29171208G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs132322|2875|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||G|G||||chr22:g.29171208G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=25475;gnomADv4_1_AC_joint_XX=12316;gnomADv4_1_AC_joint_XY=13159;gnomADv4_1_AF_grpmax_joint=0.600039;gnomADv4_1_AF_joint=0.167568;gnomADv4_1_AF_joint_XX=0.158446;gnomADv4_1_AF_joint_XY=0.177111;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3139;gnomADv4_1_nhomalt_joint_XX=1431;gnomADv4_1_nhomalt_joint_XY=1708;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29171443 chr22_29171443_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.937;CADD_Rawscore=-0.034565;CSQ=C|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs132323|3110|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29171443T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs132323|3110|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29171443T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=138327;gnomADv4_1_AC_joint_XX=71014;gnomADv4_1_AC_joint_XY=67313;gnomADv4_1_AF_grpmax_joint=0.930344;gnomADv4_1_AF_joint=0.909137;gnomADv4_1_AF_joint_XX=0.913128;gnomADv4_1_AF_joint_XY=0.904964;gnomADv4_1_AN_grpmax_joint=68006;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=63153;gnomADv4_1_nhomalt_joint_XX=32541;gnomADv4_1_nhomalt_joint_XY=30612;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29171677 chr22_29171677_T_G T G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.699;CADD_Rawscore=-0.109275;CSQ=G|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs469984|3344|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29171677T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs469984|3344|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29171677T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=137578;gnomADv4_1_AC_joint_XX=70639;gnomADv4_1_AC_joint_XY=66939;gnomADv4_1_AF_grpmax_joint=0.930055;gnomADv4_1_AF_joint=0.904726;gnomADv4_1_AF_joint_XX=0.908704;gnomADv4_1_AF_joint_XY=0.900565;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=62512;gnomADv4_1_nhomalt_joint_XX=32215;gnomADv4_1_nhomalt_joint_XY=30297;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29171777 chr22_29171777_C_G C G 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.825;CADD_Rawscore=-0.067229;CSQ=G|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs132325|3444|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29171777C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs132325|3444|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29171777C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=130152;gnomADv4_1_AC_joint_XX=66705;gnomADv4_1_AC_joint_XY=63447;gnomADv4_1_AF_grpmax_joint=0.929483;gnomADv4_1_AF_joint=0.855678;gnomADv4_1_AF_joint_XX=0.857964;gnomADv4_1_AF_joint_XY=0.853287;gnomADv4_1_AN_grpmax_joint=68012;gnomADv4_1_AN_joint=152104;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=56606;gnomADv4_1_nhomalt_joint_XX=29078;gnomADv4_1_nhomalt_joint_XY=27528;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29171868 chr22_29171868_C_G C G 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.686;CADD_Rawscore=-0.114142;CSQ=G|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs132326|3535|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||C|C||1||chr22:g.29171868C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs132326|3535|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||C|C||||chr22:g.29171868C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=118909;gnomADv4_1_AC_joint_XX=61080;gnomADv4_1_AC_joint_XY=57829;gnomADv4_1_AF_grpmax_joint=0.899088;gnomADv4_1_AF_joint=0.781977;gnomADv4_1_AF_joint_XX=0.785898;gnomADv4_1_AF_joint_XY=0.777878;gnomADv4_1_AN_grpmax_joint=67990;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=48228;gnomADv4_1_nhomalt_joint_XX=24892;gnomADv4_1_nhomalt_joint_XY=23336;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29172784 chr22_29172784_T_A T A 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.792;CADD_Rawscore=0.254073;CSQ=A|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs132327|4451|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||T|T||1||chr22:g.29172784T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs132327|4451|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||T|T||||chr22:g.29172784T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=119166;gnomADv4_1_AC_joint_XX=61218;gnomADv4_1_AC_joint_XY=57948;gnomADv4_1_AF_grpmax_joint=0.899089;gnomADv4_1_AF_joint=0.782802;gnomADv4_1_AF_joint_XX=0.786864;gnomADv4_1_AF_joint_XY=0.778557;gnomADv4_1_AN_grpmax_joint=68030;gnomADv4_1_AN_joint=152230;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=48334;gnomADv4_1_nhomalt_joint_XX=24953;gnomADv4_1_nhomalt_joint_XY=23381;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29172797 chr22_29172797_A_G A G 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=4.429;CADD_Rawscore=0.403549;CSQ=G|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs132328|4464|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||A|A||1||chr22:g.29172797A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs132328|4464|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||A|A||||chr22:g.29172797A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=119028;gnomADv4_1_AC_joint_XX=61150;gnomADv4_1_AC_joint_XY=57878;gnomADv4_1_AF_grpmax_joint=0.899083;gnomADv4_1_AF_joint=0.781968;gnomADv4_1_AF_joint_XX=0.785848;gnomADv4_1_AF_joint_XY=0.777909;gnomADv4_1_AN_grpmax_joint=68026;gnomADv4_1_AN_joint=152216;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=48270;gnomADv4_1_nhomalt_joint_XX=24916;gnomADv4_1_nhomalt_joint_XY=23354;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29173028 chr22_29173028_AGAG_A AGAG A 49 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=3.358;CADDIndel_Rawscore=0.307859;CSQ=-|downstream_gene_variant|MODIFIER|KREMEN1|ENSG00000183762|Transcript|ENST00000327813|protein_coding||||||||||rs146862848|4696|1||HGNC|HGNC:17550|2|CCDS13849.1|ENSP00000331242|Q96MU8.188||UPI000002AD01|Q96MU8-2||Ensembl||GAG|GAG||1||chr22:g.29173029_29173031del|||||||||||||,-|downstream_gene_variant|MODIFIER|KREMEN1|83999|Transcript|NM_032045.5|protein_coding||||||||||rs146862848|4696|1||EntrezGene|HGNC:17550|||NP_114434.3||||||RefSeq||GAG|GAG||||chr22:g.29173029_29173031del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000327813,NM_032045.5;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000183762,83999;VEP_SYMBOL=KREMEN1,KREMEN1;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=85065;gnomADv4_1_AC_joint_XX=43685;gnomADv4_1_AC_joint_XY=41380;gnomADv4_1_AF_grpmax_joint=0.699906;gnomADv4_1_AF_joint=0.560715;gnomADv4_1_AF_joint_XX=0.563038;gnomADv4_1_AF_joint_XY=0.558284;gnomADv4_1_AN_grpmax_joint=67802;gnomADv4_1_AN_joint=151708;gnomADv4_1_AN_joint_XX=77588;gnomADv4_1_AN_joint_XY=74120;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26935;gnomADv4_1_nhomalt_joint_XX=13956;gnomADv4_1_nhomalt_joint_XY=12979;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29173657 chr22_29173657_C_T C T 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.705;CADD_Rawscore=-0.10699;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs80084289|||||||||||||||||||||chr22:g.29173657C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=1612;gnomADv4_1_AC_joint_XX=875;gnomADv4_1_AC_joint_XY=737;gnomADv4_1_AF_grpmax_joint=0.0368307;gnomADv4_1_AF_joint=0.010611;gnomADv4_1_AF_joint_XX=0.0112674;gnomADv4_1_AF_joint_XY=0.00992459;gnomADv4_1_AN_grpmax_joint=41460;gnomADv4_1_AN_joint=151918;gnomADv4_1_AN_joint_XX=77658;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26;gnomADv4_1_nhomalt_joint_XX=11;gnomADv4_1_nhomalt_joint_XY=15;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29174818 chr22_29174818_T_G T G 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.925;CADD_Rawscore=-0.037842;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs132330|||||||||||||||||||||chr22:g.29174818T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=143319;gnomADv4_1_AC_joint_XX=73527;gnomADv4_1_AC_joint_XY=69792;gnomADv4_1_AF_grpmax_joint=0.968684;gnomADv4_1_AF_joint=0.941822;gnomADv4_1_AF_joint_XX=0.945296;gnomADv4_1_AF_joint_XY=0.938191;gnomADv4_1_AN_grpmax_joint=41512;gnomADv4_1_AN_joint=152172;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=67688;gnomADv4_1_nhomalt_joint_XX=34831;gnomADv4_1_nhomalt_joint_XY=32857;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29174825 chr22_29174825_G_A G A 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=3.81;CADD_Rawscore=0.34834;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs113220542|||||||||||||||||||||chr22:g.29174825G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=1608;gnomADv4_1_AC_joint_XX=873;gnomADv4_1_AC_joint_XY=735;gnomADv4_1_AF_grpmax_joint=0.03672;gnomADv4_1_AF_joint=0.0105717;gnomADv4_1_AF_joint_XX=0.0112257;gnomADv4_1_AF_joint_XY=0.00988754;gnomADv4_1_AN_grpmax_joint=41476;gnomADv4_1_AN_joint=152104;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26;gnomADv4_1_nhomalt_joint_XX=11;gnomADv4_1_nhomalt_joint_XY=15;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29174870 chr22_29174870_A_G A G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.49;CADD_Rawscore=-0.198192;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs132331|||||||||||||||||||||chr22:g.29174870A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=138237;gnomADv4_1_AC_joint_XX=71002;gnomADv4_1_AC_joint_XY=67235;gnomADv4_1_AF_grpmax_joint=0.935848;gnomADv4_1_AF_joint=0.908772;gnomADv4_1_AF_joint_XX=0.912904;gnomADv4_1_AF_joint_XY=0.90445;gnomADv4_1_AN_grpmax_joint=68026;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=63095;gnomADv4_1_nhomalt_joint_XX=32531;gnomADv4_1_nhomalt_joint_XY=30564;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29176778 chr22_29176778_T_C T C 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=2.478;CADD_Rawscore=0.221297;CSQ=C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs11090561|3485|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs11090561|3485|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs11090561|3485|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs11090561|3485|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs11090561|3485|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs11090561|3485|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs11090561|3485|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs11090561|3485|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs11090561|4925|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs11090561|4925|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs11090561|4925|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs11090561|4925|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs11090561|4925|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs11090561|4925|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs11090561|4925|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs11090561|3485|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs11090561|4925|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs11090561|3485|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs11090561|3485|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs11090561|3485|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs11090561|3485|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs11090561|4925|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs11090561|3485|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs11090561|3485|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs11090561|4925|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29176778T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8634;gnomADv4_1_AC_joint_XX=4279;gnomADv4_1_AC_joint_XY=4355;gnomADv4_1_AF_grpmax_joint=0.099073;gnomADv4_1_AF_joint=0.0567079;gnomADv4_1_AF_joint_XX=0.0549986;gnomADv4_1_AF_joint_XY=0.0584941;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152254;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=300;gnomADv4_1_nhomalt_joint_XX=154;gnomADv4_1_nhomalt_joint_XY=146;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29177177 chr22_29177177_T_C T C 39 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=2.014;CADD_Rawscore=0.165792;CSQ=C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs5997452|3086|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs5997452|3086|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs5997452|3086|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs5997452|3086|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs5997452|3086|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs5997452|3086|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs5997452|3086|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs5997452|3086|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs5997452|4526|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs5997452|4526|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs5997452|4526|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs5997452|4526|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs5997452|4526|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs5997452|4526|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs5997452|4526|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs5997452|3086|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs5997452|4526|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs5997452|3086|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs5997452|3086|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs5997452|3086|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs5997452|3086|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs5997452|4526|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs5997452|3086|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs5997452|3086|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs5997452|4526|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177177T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111477;gnomADv4_1_AC_joint_XX=58598;gnomADv4_1_AC_joint_XY=52879;gnomADv4_1_AF_grpmax_joint=0.904363;gnomADv4_1_AF_joint=0.784685;gnomADv4_1_AF_joint_XX=0.791287;gnomADv4_1_AF_joint_XY=0.777495;gnomADv4_1_AN_grpmax_joint=66784;gnomADv4_1_AN_joint=142066;gnomADv4_1_AN_joint_XX=74054;gnomADv4_1_AN_joint_XY=68012;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=45553;gnomADv4_1_nhomalt_joint_XX=24112;gnomADv4_1_nhomalt_joint_XY=21441;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29177186 chr22_29177186_CT_C CT C 26 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=26;CADDIndel_PHREDscore=0.216;CADDIndel_Rawscore=-0.406232;CSQ=-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs57816697|3076|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs57816697|3076|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs57816697|3076|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs57816697|3076|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs57816697|3076|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs57816697|3076|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs57816697|3076|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs57816697|3076|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs57816697|4516|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs57816697|4516|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs57816697|4516|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs57816697|4516|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs57816697|4516|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs57816697|4516|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs57816697|4516|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs57816697|3076|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs57816697|4516|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs57816697|3076|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs57816697|3076|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs57816697|3076|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs57816697|3076|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs57816697|4516|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs57816697|3076|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs57816697|3076|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs57816697|4516|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177210del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28503;gnomADv4_1_AC_joint_XX=15874;gnomADv4_1_AC_joint_XY=12629;gnomADv4_1_AF_grpmax_joint=0.614401;gnomADv4_1_AF_joint=0.475732;gnomADv4_1_AF_joint_XX=0.478334;gnomADv4_1_AF_joint_XY=0.472501;gnomADv4_1_AN_grpmax_joint=4694;gnomADv4_1_AN_joint=59914;gnomADv4_1_AN_joint_XX=33186;gnomADv4_1_AN_joint_XY=26728;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=3382;gnomADv4_1_nhomalt_joint_XX=1716;gnomADv4_1_nhomalt_joint_XY=1666;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29177514 chr22_29177514_CTT_C;chr22_29177514_CT_C CTT C 34 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=34;CADDIndel_PHREDscore=4.429;CADDIndel_Rawscore=0.403482;CSQ=-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs132332|2747|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs132332|2747|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs132332|2747|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs132332|2747|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs132332|2747|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs132332|2747|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs132332|2747|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs132332|2747|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs132332|4187|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs132332|4187|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs132332|4187|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs132332|4187|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs132332|4187|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs132332|4187|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs132332|4187|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs132332|2747|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs132332|4187|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs132332|2747|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs132332|2747|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs132332|2747|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs132332|2747|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs132332|4187|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs132332|2747|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs132332|2747|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs132332|4187|-1||EntrezGene||||||||||RefSeq||TT|TT||||chr22:g.29177532_29177533del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39967;gnomADv4_1_AC_joint_XX=21944;gnomADv4_1_AC_joint_XY=18023;gnomADv4_1_AF_grpmax_joint=0.734195;gnomADv4_1_AF_joint=0.634035;gnomADv4_1_AF_joint_XX=0.637981;gnomADv4_1_AF_joint_XY=0.629295;gnomADv4_1_AN_grpmax_joint=2088;gnomADv4_1_AN_joint=63036;gnomADv4_1_AN_joint_XX=34396;gnomADv4_1_AN_joint_XY=28640;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11329;gnomADv4_1_nhomalt_joint_XX=6202;gnomADv4_1_nhomalt_joint_XY=5127;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29177514 chr22_29177514_CTT_C;chr22_29177514_CT_C CT C 34 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADDIndel_PHREDscore=4.472;CADDIndel_Rawscore=0.407423;CSQ=-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs132332|2748|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs132332|2748|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs132332|2748|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs132332|2748|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs132332|2748|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs132332|2748|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs132332|2748|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs132332|2748|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs132332|4188|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs132332|4188|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs132332|4188|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs132332|4188|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs132332|4188|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs132332|4188|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs132332|4188|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs132332|2748|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs132332|4188|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs132332|2748|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs132332|2748|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs132332|2748|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs132332|2748|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs132332|4188|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs132332|2748|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs132332|2748|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs132332|4188|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177533del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7441;gnomADv4_1_AC_joint_XX=3961;gnomADv4_1_AC_joint_XY=3480;gnomADv4_1_AF_grpmax_joint=0.266226;gnomADv4_1_AF_joint=0.116865;gnomADv4_1_AF_joint_XX=0.113861;gnomADv4_1_AF_joint_XY=0.120482;gnomADv4_1_AN_grpmax_joint=1664;gnomADv4_1_AN_joint=63672;gnomADv4_1_AN_joint_XX=34788;gnomADv4_1_AN_joint_XY=28884;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=383;gnomADv4_1_nhomalt_joint_XX=195;gnomADv4_1_nhomalt_joint_XY=188;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29177554 chr22_29177554_T_C T C 47 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.4;CADD_Rawscore=-0.24886;CSQ=C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs132333|2709|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs132333|2709|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs132333|2709|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs132333|2709|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs132333|2709|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs132333|2709|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs132333|2709|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs132333|2709|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs132333|4149|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs132333|4149|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs132333|4149|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs132333|4149|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs132333|4149|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs132333|4149|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs132333|4149|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs132333|2709|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs132333|4149|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs132333|2709|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs132333|2709|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs132333|2709|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs132333|2709|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs132333|4149|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs132333|2709|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs132333|2709|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs132333|4149|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29177554T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=115797;gnomADv4_1_AC_joint_XX=61039;gnomADv4_1_AC_joint_XY=54758;gnomADv4_1_AF_grpmax_joint=0.933985;gnomADv4_1_AF_joint=0.888736;gnomADv4_1_AF_joint_XX=0.893663;gnomADv4_1_AF_joint_XY=0.883308;gnomADv4_1_AN_grpmax_joint=63122;gnomADv4_1_AN_joint=130294;gnomADv4_1_AN_joint_XX=68302;gnomADv4_1_AN_joint_XY=61992;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=51865;gnomADv4_1_nhomalt_joint_XX=27461;gnomADv4_1_nhomalt_joint_XY=24404;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29178354 chr22_29178354_C_CAA;chr22_29178354_C_CA C CAA 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=1.054;CADDIndel_Rawscore=-0.004173;CSQ=AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178366_29178367dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78759;gnomADv4_1_AC_joint_XX=40822;gnomADv4_1_AC_joint_XY=37937;gnomADv4_1_AF_grpmax_joint=0.693837;gnomADv4_1_AF_joint=0.534554;gnomADv4_1_AF_joint_XX=0.537995;gnomADv4_1_AF_joint_XY=0.530899;gnomADv4_1_AN_grpmax_joint=5030;gnomADv4_1_AN_joint=147336;gnomADv4_1_AN_joint_XX=75878;gnomADv4_1_AN_joint_XY=71458;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24110;gnomADv4_1_nhomalt_joint_XX=12664;gnomADv4_1_nhomalt_joint_XY=11446;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29178354 chr22_29178354_C_CAA;chr22_29178354_C_CA C CA 56 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=1.073;CADDIndel_Rawscore=0.000476;CSQ=A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs132334|1908|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs132334|3348|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29178367dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57299;gnomADv4_1_AC_joint_XX=29172;gnomADv4_1_AC_joint_XY=28127;gnomADv4_1_AF_grpmax_joint=0.666087;gnomADv4_1_AF_joint=0.38871;gnomADv4_1_AF_joint_XX=0.384186;gnomADv4_1_AF_joint_XY=0.393517;gnomADv4_1_AN_grpmax_joint=40274;gnomADv4_1_AN_joint=147408;gnomADv4_1_AN_joint_XX=75932;gnomADv4_1_AN_joint_XY=71476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=13370;gnomADv4_1_nhomalt_joint_XX=6855;gnomADv4_1_nhomalt_joint_XY=6515;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29178437 chr22_29178437_C_G C G 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.259;CADD_Rawscore=0.042138;CSQ=G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs132335|1826|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs132335|1826|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs132335|1826|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs132335|1826|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs132335|1826|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs132335|1826|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs132335|1826|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs132335|1826|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs132335|3266|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs132335|3266|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs132335|3266|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs132335|3266|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs132335|3266|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs132335|3266|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs132335|3266|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs132335|1826|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs132335|3266|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs132335|1826|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs132335|1826|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs132335|1826|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs132335|1826|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs132335|3266|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs132335|1826|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs132335|1826|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs132335|3266|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29178437C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81029;gnomADv4_1_AC_joint_XX=41554;gnomADv4_1_AC_joint_XY=39475;gnomADv4_1_AF_grpmax_joint=0.700771;gnomADv4_1_AF_joint=0.533401;gnomADv4_1_AF_joint_XX=0.534759;gnomADv4_1_AF_joint_XY=0.531979;gnomADv4_1_AN_grpmax_joint=67978;gnomADv4_1_AN_joint=151910;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26105;gnomADv4_1_nhomalt_joint_XX=13504;gnomADv4_1_nhomalt_joint_XY=12601;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29179626 chr22_29179626_C_T C T 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=3.806;CADD_Rawscore=0.348038;CSQ=T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs111677101|637|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs111677101|637|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs111677101|637|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs111677101|637|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs111677101|637|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs111677101|637|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs111677101|637|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs111677101|637|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs111677101|2077|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs111677101|2077|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs111677101|2077|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs111677101|2077|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs111677101|2077|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs111677101|2077|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs111677101|2077|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs111677101|637|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs111677101|2077|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs111677101|637|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs111677101|637|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs111677101|637|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs111677101|637|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs111677101|2077|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs111677101|637|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs111677101|637|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs111677101|2077|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29179626C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1630;gnomADv4_1_AC_joint_XX=884;gnomADv4_1_AC_joint_XY=746;gnomADv4_1_AF_grpmax_joint=0.0372225;gnomADv4_1_AF_joint=0.0107092;gnomADv4_1_AF_joint_XX=0.0113619;gnomADv4_1_AF_joint_XY=0.0100266;gnomADv4_1_AN_grpmax_joint=41534;gnomADv4_1_AN_joint=152206;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26;gnomADv4_1_nhomalt_joint_XX=11;gnomADv4_1_nhomalt_joint_XY=15;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29179931 chr22_29179931_A_AAAAAAG A AAAAAAG 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=0;AC_XY=4;AF=1.0;AF_XX=.;AF_XY=1.0;AN=4;AN_XX=0;AN_XY=4;AQ=48;CADDIndel_PHREDscore=1.188;CADDIndel_Rawscore=0.026957;CSQ=AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs132336|331|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs132336|331|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs132336|331|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs132336|331|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs132336|331|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs132336|331|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs132336|331|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs132336|331|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs132336|1771|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs132336|1771|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs132336|1771|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs132336|1771|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs132336|1771|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs132336|1771|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs132336|1771|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs132336|331|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs132336|1771|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs132336|331|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs132336|331|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs132336|331|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs132336|331|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs132336|1771|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs132336|331|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs132336|331|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||,AAAAAG|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs132336|1771|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29179936_29179937insGAAAAA|||||||||||||;TYPE=INDEL;VEP_Allele=AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG,AAAAAG;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=75920;gnomADv4_1_AC_joint_XX=39864;gnomADv4_1_AC_joint_XY=36056;gnomADv4_1_AF_grpmax_joint=0.775661;gnomADv4_1_AF_joint=0.717282;gnomADv4_1_AF_joint_XX=0.720946;gnomADv4_1_AF_joint_XY=0.713274;gnomADv4_1_AN_grpmax_joint=57480;gnomADv4_1_AN_joint=105844;gnomADv4_1_AN_joint_XX=55294;gnomADv4_1_AN_joint_XY=50550;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25895;gnomADv4_1_nhomalt_joint_XX=13587;gnomADv4_1_nhomalt_joint_XY=12308;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29181023 chr22_29181023_G_A G A 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=4.854;CADD_Rawscore=0.442248;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||5/5|XR_001755475.2:n.1034-360C>T|||||||rs78476099||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||5/5|XR_001755476.2:n.983-360C>T|||||||rs78476099||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||5/5|XR_001755477.2:n.1031-360C>T|||||||rs78476099||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||4/4|XR_001755478.2:n.965-360C>T|||||||rs78476099||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA|5/5||XR_007068045.1:n.1754C>T||1754|||||rs78476099||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||5/5|XR_007068046.1:n.2002-360C>T|||||||rs78476099||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||5/5|XR_007068047.1:n.2411-360C>T|||||||rs78476099||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||3/3|XR_007068048.1:n.617-360C>T|||||||rs78476099||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs78476099|680|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs78476099|680|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs78476099|680|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs78476099|680|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs78476099|680|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs78476099|680|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs78476099|680|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||4/4|XR_007068056.1:n.1792-360C>T|||||||rs78476099||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs78476099|680|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||4/4|XR_244419.5:n.801-360C>T|||||||rs78476099||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||3/3|XR_430435.4:n.594-360C>T|||||||rs78476099||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||3/3|XR_430436.4:n.735-360C>T|||||||rs78476099||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||4/4|XR_938130.3:n.804-360C>T|||||||rs78476099||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs78476099|680|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||4/4|XR_938132.3:n.804-356C>T|||||||rs78476099||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||4/4|XR_938134.3:n.827-360C>T|||||||rs78476099||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs78476099|680|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29181023G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1497;gnomADv4_1_AC_joint_XX=809;gnomADv4_1_AC_joint_XY=688;gnomADv4_1_AF_grpmax_joint=0.0340499;gnomADv4_1_AF_joint=0.00982786;gnomADv4_1_AF_joint_XX=0.0103936;gnomADv4_1_AF_joint_XY=0.00923664;gnomADv4_1_AN_grpmax_joint=41586;gnomADv4_1_AN_joint=152322;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22;gnomADv4_1_nhomalt_joint_XX=10;gnomADv4_1_nhomalt_joint_XY=12;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29181147 chr22_29181147_C_T C T 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.213;CADD_Rawscore=0.03238;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||5/5|XR_001755475.2:n.1034-484G>A|||||||rs132337||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||5/5|XR_001755476.2:n.983-484G>A|||||||rs132337||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||5/5|XR_001755477.2:n.1031-484G>A|||||||rs132337||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||4/4|XR_001755478.2:n.965-484G>A|||||||rs132337||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA|5/5||XR_007068045.1:n.1630G>A||1630|||||rs132337||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||5/5|XR_007068046.1:n.2002-484G>A|||||||rs132337||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||5/5|XR_007068047.1:n.2411-484G>A|||||||rs132337||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||3/3|XR_007068048.1:n.617-484G>A|||||||rs132337||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs132337|556|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs132337|556|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs132337|556|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs132337|556|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs132337|556|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs132337|556|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs132337|556|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||4/4|XR_007068056.1:n.1792-484G>A|||||||rs132337||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs132337|556|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||4/4|XR_244419.5:n.801-484G>A|||||||rs132337||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||3/3|XR_430435.4:n.594-484G>A|||||||rs132337||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||3/3|XR_430436.4:n.735-484G>A|||||||rs132337||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||4/4|XR_938130.3:n.804-484G>A|||||||rs132337||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs132337|556|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||4/4|XR_938132.3:n.804-480G>A|||||||rs132337||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||4/4|XR_938134.3:n.827-484G>A|||||||rs132337||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs132337|556|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29181147C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78776;gnomADv4_1_AC_joint_XX=40319;gnomADv4_1_AC_joint_XY=38457;gnomADv4_1_AF_grpmax_joint=0.701276;gnomADv4_1_AF_joint=0.518454;gnomADv4_1_AF_joint_XX=0.519053;gnomADv4_1_AF_joint_XY=0.517828;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=151944;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24604;gnomADv4_1_nhomalt_joint_XX=12692;gnomADv4_1_nhomalt_joint_XY=11912;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29182369 chr22_29182369_A_AAAC A AAAC 43 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=2.067;CADDIndel_Rawscore=0.172689;CSQ=AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||5/5|XR_001755475.2:n.1033+800_1033+802dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||5/5|XR_001755476.2:n.982+800_982+802dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||5/5|XR_001755477.2:n.1030+800_1030+802dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||4/4|XR_001755478.2:n.964+800_964+802dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||4/4|XR_007068045.1:n.930-525_930-523dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||5/5|XR_007068046.1:n.2001+800_2001+802dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||5/5|XR_007068047.1:n.2410+800_2410+802dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||3/3|XR_007068048.1:n.617-1709_617-1707dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||5/5|XR_007068049.1:n.983-525_983-523dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||4/4|XR_007068050.1:n.801-525_801-523dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||4/4|XR_007068051.1:n.927-525_927-523dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||3/3|XR_007068052.1:n.617-525_617-523dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||3/3|XR_007068053.1:n.735-525_735-523dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||4/4|XR_007068054.1:n.965-525_965-523dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||3/3|XR_007068055.1:n.861-525_861-523dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||4/4|XR_007068056.1:n.1792-1709_1792-1707dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||4/4|XR_007068057.1:n.827-525_827-523dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||4/4|XR_244419.5:n.800+800_800+802dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||3/3|XR_430435.4:n.594-1709_594-1707dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||3/3|XR_430436.4:n.734+800_734+802dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||4/4|XR_938130.3:n.803+800_803+802dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||4/4|XR_938131.3:n.804-525_804-523dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||4/4|XR_938132.3:n.803+800_803+802dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||4/4|XR_938134.3:n.826+800_826+802dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||,AAC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||3/3|XR_938136.3:n.594-525_594-523dup|||||||rs132338||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29182390_29182392dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC,AAC;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=117234;gnomADv4_1_AC_joint_XX=60449;gnomADv4_1_AC_joint_XY=56785;gnomADv4_1_AF_grpmax_joint=0.903465;gnomADv4_1_AF_joint=0.782436;gnomADv4_1_AF_joint_XX=0.787158;gnomADv4_1_AF_joint_XY=0.777472;gnomADv4_1_AN_grpmax_joint=67302;gnomADv4_1_AN_joint=149832;gnomADv4_1_AN_joint_XX=76794;gnomADv4_1_AN_joint_XY=73038;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=47654;gnomADv4_1_nhomalt_joint_XX=24715;gnomADv4_1_nhomalt_joint_XY=22939;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29182590 chr22_29182590_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.557;CADD_Rawscore=-0.166178;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||5/5|XR_001755475.2:n.1033+582T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||5/5|XR_001755476.2:n.982+582T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||5/5|XR_001755477.2:n.1030+582T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||4/4|XR_001755478.2:n.964+582T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||4/4|XR_007068045.1:n.929+456T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||5/5|XR_007068046.1:n.2001+582T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||5/5|XR_007068047.1:n.2410+582T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||3/3|XR_007068048.1:n.617-1927T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||5/5|XR_007068049.1:n.982+582T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||4/4|XR_007068050.1:n.800+582T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||4/4|XR_007068051.1:n.926+456T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||3/3|XR_007068052.1:n.617-743T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||3/3|XR_007068053.1:n.734+582T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||4/4|XR_007068054.1:n.964+582T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||3/3|XR_007068055.1:n.860+456T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||4/4|XR_007068056.1:n.1792-1927T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||4/4|XR_007068057.1:n.826+582T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||4/4|XR_244419.5:n.800+582T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||3/3|XR_430435.4:n.594-1927T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||3/3|XR_430436.4:n.734+582T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||4/4|XR_938130.3:n.803+582T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||4/4|XR_938131.3:n.803+582T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||4/4|XR_938132.3:n.803+582T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||4/4|XR_938134.3:n.826+582T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||3/3|XR_938136.3:n.594-743T>C|||||||rs132339||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29182590A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=125264;gnomADv4_1_AC_joint_XX=64466;gnomADv4_1_AC_joint_XY=60798;gnomADv4_1_AF_grpmax_joint=0.905564;gnomADv4_1_AF_joint=0.823585;gnomADv4_1_AF_joint_XX=0.829166;gnomADv4_1_AF_joint_XY=0.817749;gnomADv4_1_AN_grpmax_joint=68004;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=52359;gnomADv4_1_nhomalt_joint_XX=27133;gnomADv4_1_nhomalt_joint_XY=25226;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29183386 chr22_29183386_T_TA T TA 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=2.592;CADDIndel_Rawscore=0.233556;CSQ=A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||4/5|XR_001755475.2:n.824-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||4/5|XR_001755476.2:n.773-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||4/5|XR_001755477.2:n.821-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||3/4|XR_001755478.2:n.755-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||3/4|XR_007068045.1:n.594-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||4/5|XR_007068046.1:n.1792-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||4/5|XR_007068047.1:n.2201-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||3/3|XR_007068048.1:n.617-2724dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||4/5|XR_007068049.1:n.773-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||3/4|XR_007068050.1:n.591-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||3/4|XR_007068051.1:n.591-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||3/3|XR_007068052.1:n.617-1540dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||3/4|XR_007068054.1:n.755-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||4/4|XR_007068056.1:n.1792-2724dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||3/4|XR_007068057.1:n.617-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||3/4|XR_244419.5:n.591-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||3/3|XR_430435.4:n.594-2724dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||3/4|XR_938130.3:n.594-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||3/4|XR_938131.3:n.594-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||3/4|XR_938132.3:n.594-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||3/4|XR_938134.3:n.617-6dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||3/3|XR_938136.3:n.594-1540dup|||||||rs132340||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29183400dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=112748;gnomADv4_1_AC_joint_XX=58550;gnomADv4_1_AC_joint_XY=54198;gnomADv4_1_AF_grpmax_joint=0.882202;gnomADv4_1_AF_joint=0.774028;gnomADv4_1_AF_joint_XX=0.780521;gnomADv4_1_AF_joint_XY=0.767134;gnomADv4_1_AN_grpmax_joint=66368;gnomADv4_1_AN_joint=145664;gnomADv4_1_AN_joint_XX=75014;gnomADv4_1_AN_joint_XY=70650;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=44776;gnomADv4_1_nhomalt_joint_XX=23467;gnomADv4_1_nhomalt_joint_XY=21309;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29184223 chr22_29184223_C_A C A 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.354;CADD_Rawscore=-0.279704;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||4/5|XR_001755475.2:n.823+747G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||4/5|XR_001755476.2:n.772+798G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||4/5|XR_001755477.2:n.820+747G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||3/4|XR_001755478.2:n.754+747G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||3/4|XR_007068045.1:n.594-842G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||4/5|XR_007068046.1:n.1792-842G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||4/5|XR_007068047.1:n.2201-842G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||3/3|XR_007068048.1:n.616+1974G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||4/5|XR_007068049.1:n.772+798G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||3/4|XR_007068050.1:n.591-842G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||3/4|XR_007068051.1:n.591-842G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||3/3|XR_007068052.1:n.616+1974G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-842G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||3/4|XR_007068054.1:n.754+747G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-842G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||4/4|XR_007068056.1:n.1791+1974G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||3/4|XR_007068057.1:n.617-842G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||3/4|XR_244419.5:n.591-842G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||3/3|XR_430435.4:n.593+1974G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-842G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||3/4|XR_938130.3:n.594-842G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||3/4|XR_938131.3:n.594-842G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||3/4|XR_938132.3:n.594-842G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||3/4|XR_938134.3:n.617-842G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||3/3|XR_938136.3:n.593+1974G>T|||||||rs59689265||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29184223C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4659;gnomADv4_1_AC_joint_XX=2498;gnomADv4_1_AC_joint_XY=2161;gnomADv4_1_AF_grpmax_joint=0.106236;gnomADv4_1_AF_joint=0.0306002;gnomADv4_1_AF_joint_XX=0.0321022;gnomADv4_1_AF_joint_XY=0.0290301;gnomADv4_1_AN_grpmax_joint=41530;gnomADv4_1_AN_joint=152254;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=258;gnomADv4_1_nhomalt_joint_XX=133;gnomADv4_1_nhomalt_joint_XY=125;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29185082 chr22_29185082_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.29;CADD_Rawscore=0.048465;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA|4/6||XR_001755475.2:n.711A>G||711|||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA|4/6||XR_001755476.2:n.711A>G||711|||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA|4/6||XR_001755477.2:n.708A>G||708|||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA|3/5||XR_001755478.2:n.642A>G||642|||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||3/4|XR_007068045.1:n.593+1115A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||4/5|XR_007068046.1:n.1791+1115A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||4/5|XR_007068047.1:n.2200+1115A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||3/3|XR_007068048.1:n.616+1115A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA|4/6||XR_007068049.1:n.711A>G||711|||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||3/4|XR_007068050.1:n.590+1115A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||3/4|XR_007068051.1:n.590+1115A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||3/3|XR_007068052.1:n.616+1115A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-1701A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA|3/5||XR_007068054.1:n.642A>G||642|||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-1701A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||4/4|XR_007068056.1:n.1791+1115A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||3/4|XR_007068057.1:n.616+1115A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||3/4|XR_244419.5:n.590+1115A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||3/3|XR_430435.4:n.593+1115A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-1701A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||3/4|XR_938130.3:n.593+1115A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||3/4|XR_938131.3:n.593+1115A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||3/4|XR_938132.3:n.593+1115A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||3/4|XR_938134.3:n.616+1115A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||3/3|XR_938136.3:n.593+1115A>G|||||||rs132341||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29185082T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=135321;gnomADv4_1_AC_joint_XX=69476;gnomADv4_1_AC_joint_XY=65845;gnomADv4_1_AF_grpmax_joint=0.935848;gnomADv4_1_AF_joint=0.888925;gnomADv4_1_AF_joint_XX=0.892847;gnomADv4_1_AF_joint_XY=0.884823;gnomADv4_1_AN_grpmax_joint=68026;gnomADv4_1_AN_joint=152230;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=60554;gnomADv4_1_nhomalt_joint_XX=31210;gnomADv4_1_nhomalt_joint_XY=29344;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29185308 chr22_29185308_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.908;CADD_Rawscore=-0.042846;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||3/5|XR_001755475.2:n.594-109T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||3/5|XR_001755476.2:n.594-109T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||3/5|XR_001755477.2:n.591-109T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-109T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||3/4|XR_007068045.1:n.593+889T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||4/5|XR_007068046.1:n.1791+889T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||4/5|XR_007068047.1:n.2200+889T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||3/3|XR_007068048.1:n.616+889T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||3/5|XR_007068049.1:n.594-109T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||3/4|XR_007068050.1:n.590+889T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||3/4|XR_007068051.1:n.590+889T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||3/3|XR_007068052.1:n.616+889T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-1927T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-109T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-1927T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||4/4|XR_007068056.1:n.1791+889T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||3/4|XR_007068057.1:n.616+889T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||3/4|XR_244419.5:n.590+889T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||3/3|XR_430435.4:n.593+889T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-1927T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||3/4|XR_938130.3:n.593+889T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||3/4|XR_938131.3:n.593+889T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||3/4|XR_938132.3:n.593+889T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||3/4|XR_938134.3:n.616+889T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||3/3|XR_938136.3:n.593+889T>C|||||||rs469985||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29185308A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=135346;gnomADv4_1_AC_joint_XX=69481;gnomADv4_1_AC_joint_XY=65865;gnomADv4_1_AF_grpmax_joint=0.935523;gnomADv4_1_AF_joint=0.888739;gnomADv4_1_AF_joint_XX=0.892682;gnomADv4_1_AF_joint_XY=0.884616;gnomADv4_1_AN_grpmax_joint=68024;gnomADv4_1_AN_joint=152290;gnomADv4_1_AN_joint_XX=77834;gnomADv4_1_AN_joint_XY=74456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=60557;gnomADv4_1_nhomalt_joint_XX=31210;gnomADv4_1_nhomalt_joint_XY=29347;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29185706 chr22_29185706_C_A C A 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=8.692;CADD_Rawscore=0.842488;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||3/5|XR_001755475.2:n.593+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||3/5|XR_001755476.2:n.593+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||3/5|XR_001755477.2:n.590+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-507G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||3/4|XR_007068045.1:n.593+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||4/5|XR_007068046.1:n.1791+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||4/5|XR_007068047.1:n.2200+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||3/3|XR_007068048.1:n.616+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||3/5|XR_007068049.1:n.593+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||3/4|XR_007068050.1:n.590+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||3/4|XR_007068051.1:n.590+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||3/3|XR_007068052.1:n.616+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-2325G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-507G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-2325G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||4/4|XR_007068056.1:n.1791+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||3/4|XR_007068057.1:n.616+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||3/4|XR_244419.5:n.590+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||3/3|XR_430435.4:n.593+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-2325G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||3/4|XR_938130.3:n.593+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||3/4|XR_938131.3:n.593+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||3/4|XR_938132.3:n.593+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||3/4|XR_938134.3:n.616+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||3/3|XR_938136.3:n.593+491G>T|||||||rs113038513||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29185706C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1491;gnomADv4_1_AC_joint_XX=806;gnomADv4_1_AC_joint_XY=685;gnomADv4_1_AF_grpmax_joint=0.0339378;gnomADv4_1_AF_joint=0.00978719;gnomADv4_1_AF_joint_XX=0.0103535;gnomADv4_1_AF_joint_XY=0.00919537;gnomADv4_1_AN_grpmax_joint=41576;gnomADv4_1_AN_joint=152342;gnomADv4_1_AN_joint_XX=77848;gnomADv4_1_AN_joint_XY=74494;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22;gnomADv4_1_nhomalt_joint_XX=10;gnomADv4_1_nhomalt_joint_XY=12;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29187111 chr22_29187111_CAA_C CAA C 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=0.125;CADDIndel_Rawscore=-0.551716;CSQ=-|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs113735110|4584|-1||HGNC|HGNC:48182|||||||||Ensembl||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-848_525-847del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-848_525-847del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-851_525-850del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-1914_525-1913del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-848_525-847del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-848_1723-847del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-848_2132-847del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-825_525-824del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-848_525-847del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-851_525-850del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-851_525-850del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-825_525-824del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-3732_525-3731del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-1914_525-1913del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-3732_525-3731del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-848_1723-847del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-825_525-824del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-851_525-850del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-848_525-847del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-3732_525-3731del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-848_525-847del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-848_525-847del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-848_525-847del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-825_525-824del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-848_525-847del|||||||rs113735110||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29187123_29187124del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2054;gnomADv4_1_AC_joint_XX=1109;gnomADv4_1_AC_joint_XY=945;gnomADv4_1_AF_grpmax_joint=0.0569572;gnomADv4_1_AF_joint=0.0166232;gnomADv4_1_AF_joint_XX=0.0171869;gnomADv4_1_AF_joint_XY=0.0160072;gnomADv4_1_AN_grpmax_joint=34008;gnomADv4_1_AN_joint=123562;gnomADv4_1_AN_joint_XX=64526;gnomADv4_1_AN_joint_XY=59036;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=49;gnomADv4_1_nhomalt_joint_XX=27;gnomADv4_1_nhomalt_joint_XY=22;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29187556 chr22_29187556_CA_C;chr22_29187556_C_CA CA C 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADDIndel_PHREDscore=0.11;CADDIndel_Rawscore=-0.58487;CSQ=-|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs132342|4140|-1||HGNC|HGNC:48182|||||||||Ensembl||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-1292del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-1292del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-1295del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-2358del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-1292del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-1292del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-1292del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-1269del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-1292del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-1295del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-1295del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-1269del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-4176del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-2358del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-4176del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-1292del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-1269del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-1295del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-1292del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-4176del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-1292del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-1292del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-1292del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-1269del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-1292del|||||||rs132342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29187573del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50454;gnomADv4_1_AC_joint_XX=27209;gnomADv4_1_AC_joint_XY=23245;gnomADv4_1_AF_grpmax_joint=0.711765;gnomADv4_1_AF_joint=0.580038;gnomADv4_1_AF_joint_XX=0.582285;gnomADv4_1_AF_joint_XY=0.577429;gnomADv4_1_AN_grpmax_joint=170;gnomADv4_1_AN_joint=86984;gnomADv4_1_AN_joint_XX=46728;gnomADv4_1_AN_joint_XY=40256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11810;gnomADv4_1_nhomalt_joint_XX=6391;gnomADv4_1_nhomalt_joint_XY=5419;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29187556 chr22_29187556_CA_C;chr22_29187556_C_CA C CA 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=26;CADDIndel_PHREDscore=0.883;CADDIndel_Rawscore=-0.049878;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs132342|4140|-1||HGNC|HGNC:48182|||||||||Ensembl|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-1292dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-1292dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-1295dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-2358dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-1292dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-1292dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-1292dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-1269dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-1292dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-1295dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-1295dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-1269dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-4176dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-2358dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-4176dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-1292dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-1269dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-1295dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-1292dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-4176dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-1292dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-1292dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-1292dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-1269dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-1292dup|||||||rs132342||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187573dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5237;gnomADv4_1_AC_joint_XX=2772;gnomADv4_1_AC_joint_XY=2465;gnomADv4_1_AF_grpmax_joint=0.111044;gnomADv4_1_AF_joint=0.0600229;gnomADv4_1_AF_joint_XX=0.0591171;gnomADv4_1_AF_joint_XY=0.0610753;gnomADv4_1_AN_grpmax_joint=3314;gnomADv4_1_AN_joint=87250;gnomADv4_1_AN_joint_XX=46890;gnomADv4_1_AN_joint_XY=40360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=159;gnomADv4_1_nhomalt_joint_XX=84;gnomADv4_1_nhomalt_joint_XY=75;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29187608 chr22_29187608_T_TA;chr22_29187608_T_TAAA T TA 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=41;CADDIndel_PHREDscore=0.752;CADDIndel_Rawscore=-0.090887;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs66489448|4088|-1||HGNC|HGNC:48182|||||||||Ensembl|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-1347dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-2410dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-1321dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-1347dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-1347dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-1321dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-4228dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-2410dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-4228dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-1321dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-1347dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-4228dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-1321dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187619dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80959;gnomADv4_1_AC_joint_XX=43491;gnomADv4_1_AC_joint_XY=37468;gnomADv4_1_AF_grpmax_joint=0.760477;gnomADv4_1_AF_joint=0.644229;gnomADv4_1_AF_joint_XX=0.651844;gnomADv4_1_AF_joint_XY=0.635611;gnomADv4_1_AN_grpmax_joint=61990;gnomADv4_1_AN_joint=125668;gnomADv4_1_AN_joint_XX=66720;gnomADv4_1_AN_joint_XY=58948;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=27365;gnomADv4_1_nhomalt_joint_XX=14811;gnomADv4_1_nhomalt_joint_XY=12554;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29187608 chr22_29187608_T_TA;chr22_29187608_T_TAAA T TAAA 41 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=13;CADDIndel_PHREDscore=0.723;CADDIndel_Rawscore=-0.100872;CSQ=AAA|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs66489448|4088|-1||HGNC|HGNC:48182|||||||||Ensembl|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-1346_525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-1346_525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-1349_525-1347dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-2412_525-2410dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-1346_525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-1346_1723-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-1346_2132-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-1323_525-1321dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-1346_525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-1349_525-1347dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-1349_525-1347dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-1323_525-1321dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-4230_525-4228dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-2412_525-2410dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-4230_525-4228dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-1346_1723-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-1323_525-1321dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-1349_525-1347dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-1346_525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-4230_525-4228dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-1346_525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-1346_525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-1346_525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-1323_525-1321dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-1346_525-1344dup|||||||rs66489448||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29187617_29187619dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2408;gnomADv4_1_AC_joint_XX=1292;gnomADv4_1_AC_joint_XY=1116;gnomADv4_1_AF_grpmax_joint=0.0680774;gnomADv4_1_AF_joint=0.0190702;gnomADv4_1_AF_joint_XX=0.019283;gnomADv4_1_AF_joint_XY=0.0188297;gnomADv4_1_AN_grpmax_joint=33080;gnomADv4_1_AN_joint=126270;gnomADv4_1_AN_joint_XX=67002;gnomADv4_1_AN_joint_XY=59268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=63;gnomADv4_1_nhomalt_joint_XX=31;gnomADv4_1_nhomalt_joint_XY=32;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29187620 chr22_29187620_G_A G A 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.062;CADD_Rawscore=-0.739229;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs132343|4077|-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-1355C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-1355C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-1358C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-2421C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-1355C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-1355C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-1355C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-1332C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-1355C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-1358C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-1358C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-1332C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-4239C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-2421C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-4239C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-1355C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-1332C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-1358C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-1355C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-4239C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-1355C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-1355C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-1355C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-1332C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-1355C>T|||||||rs132343||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187620G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=124073;gnomADv4_1_AC_joint_XX=65130;gnomADv4_1_AC_joint_XY=58943;gnomADv4_1_AF_grpmax_joint=0.935037;gnomADv4_1_AF_joint=0.889361;gnomADv4_1_AF_joint_XX=0.894766;gnomADv4_1_AF_joint_XY=0.883465;gnomADv4_1_AN_grpmax_joint=66592;gnomADv4_1_AN_joint=139508;gnomADv4_1_AN_joint_XX=72790;gnomADv4_1_AN_joint_XY=66718;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=55343;gnomADv4_1_nhomalt_joint_XX=29204;gnomADv4_1_nhomalt_joint_XY=26139;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29187824 chr22_29187824_G_A G A 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.694;CADD_Rawscore=-0.110929;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs73397081|3873|-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-1559C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-1559C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-1562C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-2625C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-1559C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-1559C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-1559C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-1536C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-1559C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-1562C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-1562C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-1536C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-4443C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-2625C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-4443C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-1559C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-1536C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-1562C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-1559C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-4443C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-1559C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-1559C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-1559C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-1536C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-1559C>T|||||||rs73397081||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29187824G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1523;gnomADv4_1_AC_joint_XX=825;gnomADv4_1_AC_joint_XY=698;gnomADv4_1_AF_grpmax_joint=0.034643;gnomADv4_1_AF_joint=0.0100041;gnomADv4_1_AF_joint_XX=0.0106063;gnomADv4_1_AF_joint_XY=0.00937492;gnomADv4_1_AN_grpmax_joint=41538;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22;gnomADv4_1_nhomalt_joint_XX=10;gnomADv4_1_nhomalt_joint_XY=12;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29188152 chr22_29188152_G_A G A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=4.044;CADD_Rawscore=0.369147;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs112847372|3545|-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-1887C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-1887C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-1890C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-2953C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-1887C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-1887C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-1887C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-1864C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-1887C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-1890C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-1890C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-1864C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-4771C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-2953C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-4771C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-1887C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-1864C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-1890C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-1887C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-4771C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-1887C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-1887C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-1887C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-1864C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-1887C>T|||||||rs112847372||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29188152G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5;gnomADv4_1_AC_joint_XX=4;gnomADv4_1_AC_joint_XY=1;gnomADv4_1_AF_grpmax_joint=2.41266e-05;gnomADv4_1_AF_joint=3.2855e-05;gnomADv4_1_AF_joint_XX=5.13822e-05;gnomADv4_1_AF_joint_XY=1.34524e-05;gnomADv4_1_AN_grpmax_joint=41448;gnomADv4_1_AN_joint=152184;gnomADv4_1_AN_joint_XX=77848;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29188501 chr22_29188501_A_T A T 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.091;CADD_Rawscore=-0.636024;CSQ=T|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs59606405|3196|-1||HGNC|HGNC:48182|||||||||Ensembl||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-2236T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-2236T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-2239T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-3302T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-2236T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-2236T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-2236T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-2213T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-2236T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-2239T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-2239T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-2213T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-5120T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-3302T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-5120T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-2236T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-2213T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-2239T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-2236T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-5120T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-2236T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-2236T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-2236T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-2213T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-2236T>A|||||||rs59606405||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188501A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4697;gnomADv4_1_AC_joint_XX=2518;gnomADv4_1_AC_joint_XY=2179;gnomADv4_1_AF_grpmax_joint=0.1074;gnomADv4_1_AF_joint=0.0308773;gnomADv4_1_AF_joint_XX=0.0323917;gnomADv4_1_AF_joint_XY=0.0292947;gnomADv4_1_AN_grpmax_joint=41462;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=262;gnomADv4_1_nhomalt_joint_XX=135;gnomADv4_1_nhomalt_joint_XY=127;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29188583 chr22_29188583_A_G A G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.13;CADD_Rawscore=-0.541421;CSQ=G|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs73397085|3114|-1||HGNC|HGNC:48182|||||||||Ensembl||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-2318T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-2318T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-2321T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-3384T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-2318T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-2318T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-2318T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-2295T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-2318T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-2321T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-2321T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-2295T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-5202T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-3384T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-5202T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-2318T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-2295T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-2321T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-2318T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-5202T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-2318T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-2318T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-2318T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-2295T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-2318T>C|||||||rs73397085||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188583A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1632;gnomADv4_1_AC_joint_XX=888;gnomADv4_1_AC_joint_XY=744;gnomADv4_1_AF_grpmax_joint=0.0372868;gnomADv4_1_AF_joint=0.0107226;gnomADv4_1_AF_joint_XX=0.0114174;gnomADv4_1_AF_joint_XY=0.00999651;gnomADv4_1_AN_grpmax_joint=41516;gnomADv4_1_AN_joint=152202;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25;gnomADv4_1_nhomalt_joint_XX=11;gnomADv4_1_nhomalt_joint_XY=14;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29188751 chr22_29188751_A_G A G 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=2.623;CADD_Rawscore=0.236802;CSQ=G|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs112989561|2946|-1||HGNC|HGNC:48182|||||||||Ensembl||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-2486T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-2486T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-2489T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-3552T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-2486T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-2486T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-2486T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-2463T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-2486T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-2489T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-2489T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-2463T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-5370T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-3552T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-5370T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-2486T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-2463T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-2489T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-2486T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-5370T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-2486T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-2486T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-2486T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-2463T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-2486T>C|||||||rs112989561||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29188751A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1625;gnomADv4_1_AC_joint_XX=884;gnomADv4_1_AC_joint_XY=741;gnomADv4_1_AF_grpmax_joint=0.0371129;gnomADv4_1_AF_joint=0.0106759;gnomADv4_1_AF_joint_XX=0.0113654;gnomADv4_1_AF_joint_XY=0.0099554;gnomADv4_1_AN_grpmax_joint=41522;gnomADv4_1_AN_joint=152212;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25;gnomADv4_1_nhomalt_joint_XX=11;gnomADv4_1_nhomalt_joint_XY=14;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29189354 chr22_29189354_A_T A T 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.268;CADD_Rawscore=-0.350717;CSQ=T|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs61615024|2343|-1||HGNC|HGNC:48182|||||||||Ensembl||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-3089T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-3089T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-3092T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-4155T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-3089T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-3089T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-3089T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-3066T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-3089T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-3092T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-3092T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-3066T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-5973T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-4155T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-5973T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-3089T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-3066T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-3092T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-3089T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-5973T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-3089T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-3089T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-3089T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-3066T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-3089T>A|||||||rs61615024||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189354A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1626;gnomADv4_1_AC_joint_XX=883;gnomADv4_1_AC_joint_XY=743;gnomADv4_1_AF_grpmax_joint=0.0372202;gnomADv4_1_AF_joint=0.0106951;gnomADv4_1_AF_joint_XX=0.0113648;gnomADv4_1_AF_joint_XY=0.00999516;gnomADv4_1_AN_grpmax_joint=41456;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26;gnomADv4_1_nhomalt_joint_XX=11;gnomADv4_1_nhomalt_joint_XY=15;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29189484 chr22_29189484_A_G A G 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=3.147;CADD_Rawscore=0.288424;CSQ=G|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs28758877|2213|-1||HGNC|HGNC:48182|||||||||Ensembl||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-3219T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-3219T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-3222T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-4285T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-3219T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-3219T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-3219T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-3196T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-3219T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-3222T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-3222T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-3196T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-6103T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-4285T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-6103T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-3219T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-3196T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-3222T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-3219T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-6103T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-3219T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-3219T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-3219T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-3196T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-3219T>C|||||||rs28758877||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189484A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4623;gnomADv4_1_AC_joint_XX=2492;gnomADv4_1_AC_joint_XY=2131;gnomADv4_1_AF_grpmax_joint=0.107655;gnomADv4_1_AF_joint=0.0307188;gnomADv4_1_AF_joint_XX=0.0323401;gnomADv4_1_AF_joint_XY=0.0290177;gnomADv4_1_AN_grpmax_joint=40760;gnomADv4_1_AN_joint=150494;gnomADv4_1_AN_joint_XX=77056;gnomADv4_1_AN_joint_XY=73438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=258;gnomADv4_1_nhomalt_joint_XX=133;gnomADv4_1_nhomalt_joint_XY=125;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29189678 chr22_29189678_G_A G A 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.796;CADD_Rawscore=0.135544;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs28622069|2019|-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-3413C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-3413C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-3416C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-4479C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-3413C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-3413C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-3413C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-3390C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-3413C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-3416C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-3416C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-3390C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-6297C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-4479C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-6297C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-3413C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-3390C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-3416C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-3413C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-6297C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-3413C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-3413C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-3413C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-3390C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-3413C>T|||||||rs28622069||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189678G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4663;gnomADv4_1_AC_joint_XX=2500;gnomADv4_1_AC_joint_XY=2163;gnomADv4_1_AF_grpmax_joint=0.107089;gnomADv4_1_AF_joint=0.0307176;gnomADv4_1_AF_joint_XX=0.0322024;gnomADv4_1_AF_joint_XY=0.0291635;gnomADv4_1_AN_grpmax_joint=41302;gnomADv4_1_AN_joint=151802;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74168;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=260;gnomADv4_1_nhomalt_joint_XX=134;gnomADv4_1_nhomalt_joint_XY=126;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29189808 chr22_29189808_CA_C CA C 27 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=27;CADDIndel_PHREDscore=0.224;CADDIndel_Rawscore=-0.39681;CSQ=-|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs132345|1888|-1||HGNC|HGNC:48182|||||||||Ensembl||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-3544del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-3544del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-3547del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-4610del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-3544del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-3544del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-3544del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-3521del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-3544del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-3547del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-3547del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-3521del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-6428del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-4610del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-6428del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-3544del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-3521del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-3547del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-3544del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-6428del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-3544del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-3544del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-3544del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-3521del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-3544del|||||||rs132345||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189830del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48563;gnomADv4_1_AC_joint_XX=25784;gnomADv4_1_AC_joint_XY=22779;gnomADv4_1_AF_grpmax_joint=0.659745;gnomADv4_1_AF_joint=0.592001;gnomADv4_1_AF_joint_XX=0.593363;gnomADv4_1_AF_joint_XY=0.590466;gnomADv4_1_AN_grpmax_joint=7368;gnomADv4_1_AN_joint=82032;gnomADv4_1_AN_joint_XX=43454;gnomADv4_1_AN_joint_XY=38578;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=11275;gnomADv4_1_nhomalt_joint_XX=5907;gnomADv4_1_nhomalt_joint_XY=5368;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29189946 chr22_29189946_A_G A G 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.438;CADD_Rawscore=-0.226184;CSQ=G|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs73397093|1751|-1||HGNC|HGNC:48182|||||||||Ensembl||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-3681T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-3681T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-3684T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-4747T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-3681T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-3681T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-3681T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-3658T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-3681T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-3684T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-3684T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-3658T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-6565T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-4747T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-6565T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-3681T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-3658T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-3684T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-3681T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-6565T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-3681T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-3681T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-3681T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-3658T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-3681T>C|||||||rs73397093||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29189946A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1626;gnomADv4_1_AC_joint_XX=884;gnomADv4_1_AC_joint_XY=742;gnomADv4_1_AF_grpmax_joint=0.037103;gnomADv4_1_AF_joint=0.0106756;gnomADv4_1_AF_joint_XX=0.0113563;gnomADv4_1_AF_joint_XY=0.00996401;gnomADv4_1_AN_grpmax_joint=41560;gnomADv4_1_AN_joint=152310;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26;gnomADv4_1_nhomalt_joint_XX=11;gnomADv4_1_nhomalt_joint_XY=15;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29189989 chr22_29189989_G_A G A 60 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=1.434;CADD_Rawscore=0.076286;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs73397095|1708|-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-3724C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-3724C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-3727C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-4790C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-3724C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-3724C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-3724C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-3701C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-3724C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-3727C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-3727C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-3701C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-6608C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-4790C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-6608C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-3724C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-3701C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-3727C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-3724C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-6608C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-3724C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-3724C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-3724C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-3701C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-3724C>T|||||||rs73397095||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29189989G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1626;gnomADv4_1_AC_joint_XX=883;gnomADv4_1_AC_joint_XY=743;gnomADv4_1_AF_grpmax_joint=0.0371083;gnomADv4_1_AF_joint=0.0106776;gnomADv4_1_AF_joint_XX=0.0113473;gnomADv4_1_AF_joint_XY=0.00997771;gnomADv4_1_AN_grpmax_joint=41554;gnomADv4_1_AN_joint=152282;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74466;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26;gnomADv4_1_nhomalt_joint_XX=11;gnomADv4_1_nhomalt_joint_XY=15;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29190007 chr22_29190007_G_A G A 58 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.471;CADD_Rawscore=0.08306;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs73397096|1690|-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-3742C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-3742C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-3745C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-4808C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-3742C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-3742C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-3742C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-3719C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-3742C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-3745C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-3745C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-3719C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-6626C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-4808C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-6626C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-3742C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-3719C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-3745C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-3742C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-6626C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-3742C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-3742C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-3742C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-3719C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-3742C>T|||||||rs73397096||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190007G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4694;gnomADv4_1_AC_joint_XX=2515;gnomADv4_1_AC_joint_XY=2179;gnomADv4_1_AF_grpmax_joint=0.107191;gnomADv4_1_AF_joint=0.0308272;gnomADv4_1_AF_joint_XX=0.0323248;gnomADv4_1_AF_joint_XY=0.0292625;gnomADv4_1_AN_grpmax_joint=41524;gnomADv4_1_AN_joint=152268;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74464;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=264;gnomADv4_1_nhomalt_joint_XX=136;gnomADv4_1_nhomalt_joint_XY=128;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29190070 chr22_29190070_C_T C T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.496;CADD_Rawscore=0.320308;CSQ=T|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs11704738|1627|-1||HGNC|HGNC:48182|||||||||Ensembl||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-3805G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-3805G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-3808G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-4871G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-3805G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-3805G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-3805G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-3782G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-3805G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-3808G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-3808G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-3782G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-6689G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-4871G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-6689G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-3805G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-3782G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-3808G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-3805G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-6689G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-3805G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-3805G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-3805G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-3782G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-3805G>A|||||||rs11704738||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29190070C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54022;gnomADv4_1_AC_joint_XX=28547;gnomADv4_1_AC_joint_XY=25475;gnomADv4_1_AF_grpmax_joint=0.534014;gnomADv4_1_AF_joint=0.355492;gnomADv4_1_AF_joint_XX=0.367344;gnomADv4_1_AF_joint_XY=0.343088;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=12147;gnomADv4_1_nhomalt_joint_XX=6633;gnomADv4_1_nhomalt_joint_XY=5514;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29190071 chr22_29190071_G_A G A 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.25;CADD_Rawscore=0.040286;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs78187158|1626|-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-3806C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-3806C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-3809C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-4872C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-3806C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-3806C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-3806C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-3783C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-3806C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-3809C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-3809C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-3783C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-6690C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-4872C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-6690C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-3806C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-3783C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-3809C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-3806C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-6690C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-3806C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-3806C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-3806C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-3783C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-3806C>T|||||||rs78187158||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190071G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4706;gnomADv4_1_AC_joint_XX=2525;gnomADv4_1_AC_joint_XY=2181;gnomADv4_1_AF_grpmax_joint=0.107378;gnomADv4_1_AF_joint=0.0308979;gnomADv4_1_AF_joint_XX=0.0324442;gnomADv4_1_AF_joint_XY=0.0292822;gnomADv4_1_AN_grpmax_joint=41554;gnomADv4_1_AN_joint=152308;gnomADv4_1_AN_joint_XX=77826;gnomADv4_1_AN_joint_XY=74482;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=263;gnomADv4_1_nhomalt_joint_XX=136;gnomADv4_1_nhomalt_joint_XY=127;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29190362 chr22_29190362_A_C A C 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=0.47;CADD_Rawscore=-0.208808;CSQ=C|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs73397098|1335|-1||HGNC|HGNC:48182|||||||||Ensembl||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-4097T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-4097T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-4100T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-5163T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-4097T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-4097T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-4097T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-4074T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-4097T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-4100T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-4100T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-4074T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-6981T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-5163T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-6981T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-4097T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-4074T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-4100T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-4097T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-6981T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-4097T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-4097T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-4097T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-4074T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-4097T>G|||||||rs73397098||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190362A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4701;gnomADv4_1_AC_joint_XX=2525;gnomADv4_1_AC_joint_XY=2176;gnomADv4_1_AF_grpmax_joint=0.10785;gnomADv4_1_AF_joint=0.0310006;gnomADv4_1_AF_joint_XX=0.0325714;gnomADv4_1_AF_joint_XY=0.0293578;gnomADv4_1_AN_grpmax_joint=41326;gnomADv4_1_AN_joint=151642;gnomADv4_1_AN_joint_XX=77522;gnomADv4_1_AN_joint_XY=74120;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=263;gnomADv4_1_nhomalt_joint_XX=136;gnomADv4_1_nhomalt_joint_XY=127;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29190836 chr22_29190836_G_A G A 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.581;CADD_Rawscore=-0.15548;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs6006053|861|-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-4571C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-4571C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-4574C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-5637C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-4571C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-4571C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-4571C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-4548C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-4571C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-4574C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-4574C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-4548C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-7455C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-5637C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-7455C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-4571C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-4548C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-4574C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-4571C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-7455C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-4571C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-4571C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-4571C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-4548C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-4571C>T|||||||rs6006053||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190836G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4669;gnomADv4_1_AC_joint_XX=2497;gnomADv4_1_AC_joint_XY=2172;gnomADv4_1_AF_grpmax_joint=0.106929;gnomADv4_1_AF_joint=0.0306945;gnomADv4_1_AF_joint_XX=0.0321191;gnomADv4_1_AF_joint_XY=0.0292053;gnomADv4_1_AN_grpmax_joint=41420;gnomADv4_1_AN_joint=152112;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=262;gnomADv4_1_nhomalt_joint_XX=131;gnomADv4_1_nhomalt_joint_XY=131;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29190844 chr22_29190844_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.333;CADD_Rawscore=-0.295094;CSQ=G|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs4380342|853|-1||HGNC|HGNC:48182|||||||||Ensembl||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-4579T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-4579T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-4582T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-5645T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-4579T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-4579T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-4579T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-4556T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-4579T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-4582T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-4582T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-4556T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-7463T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-5645T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-7463T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-4579T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-4556T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-4582T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-4579T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-7463T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-4579T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-4579T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-4579T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-4556T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-4579T>C|||||||rs4380342||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29190844A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=134880;gnomADv4_1_AC_joint_XX=69265;gnomADv4_1_AC_joint_XY=65615;gnomADv4_1_AF_grpmax_joint=0.935709;gnomADv4_1_AF_joint=0.888245;gnomADv4_1_AF_joint_XX=0.892291;gnomADv4_1_AF_joint_XY=0.884013;gnomADv4_1_AN_grpmax_joint=67972;gnomADv4_1_AN_joint=151850;gnomADv4_1_AN_joint_XX=77626;gnomADv4_1_AN_joint_XY=74224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=60328;gnomADv4_1_nhomalt_joint_XX=31097;gnomADv4_1_nhomalt_joint_XY=29231;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29190858 chr22_29190858_G_A G A 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.001;CADD_Rawscore=-0.017547;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs111772635|839|-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-4593C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-4593C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-4596C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-5659C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-4593C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-4593C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-4593C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-4570C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-4593C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-4596C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-4596C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-4570C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-7477C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-5659C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-7477C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-4593C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-4570C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-4596C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-4593C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-7477C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-4593C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-4593C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-4593C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-4570C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-4593C>T|||||||rs111772635||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29190858G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1604;gnomADv4_1_AC_joint_XX=870;gnomADv4_1_AC_joint_XY=734;gnomADv4_1_AF_grpmax_joint=0.0366689;gnomADv4_1_AF_joint=0.0105457;gnomADv4_1_AF_joint_XX=0.0111923;gnomADv4_1_AF_joint_XY=0.00986984;gnomADv4_1_AN_grpmax_joint=41452;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24;gnomADv4_1_nhomalt_joint_XX=9;gnomADv4_1_nhomalt_joint_XY=15;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29190928 chr22_29190928_T_TAA T TAA 20 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=20;CADDIndel_PHREDscore=0.889;CADDIndel_Rawscore=-0.048092;CSQ=AA|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs368220514|768|-1||HGNC|HGNC:48182|||||||||Ensembl|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-4665_525-4664dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-4665_525-4664dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-4668_525-4667dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-5731_525-5730dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-4665_525-4664dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-4665_1723-4664dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-4665_2132-4664dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-4642_525-4641dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-4665_525-4664dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-4668_525-4667dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-4668_525-4667dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-4642_525-4641dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-7549_525-7548dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-5731_525-5730dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-7549_525-7548dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-4665_1723-4664dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-4642_525-4641dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-4668_525-4667dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-4665_525-4664dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-7549_525-7548dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-4665_525-4664dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-4665_525-4664dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-4665_525-4664dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-4642_525-4641dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-4665_525-4664dup|||||||rs368220514||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29190940_29190941dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1259;gnomADv4_1_AC_joint_XX=669;gnomADv4_1_AC_joint_XY=590;gnomADv4_1_AF_grpmax_joint=0.0304753;gnomADv4_1_AF_joint=0.00886995;gnomADv4_1_AF_joint_XX=0.00913435;gnomADv4_1_AF_joint_XY=0.00858806;gnomADv4_1_AN_grpmax_joint=38884;gnomADv4_1_AN_joint=141940;gnomADv4_1_AN_joint_XX=73240;gnomADv4_1_AN_joint_XY=68700;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=14;gnomADv4_1_nhomalt_joint_XX=7;gnomADv4_1_nhomalt_joint_XY=7;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29191140 chr22_29191140_C_A C A 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.036;CADD_Rawscore=-0.894919;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs6006054|557|-1||HGNC|HGNC:48182|||||||||Ensembl||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-4875G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-4875G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-4878G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-5941G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-4875G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-4875G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-4875G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-4852G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-4875G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-4878G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-4878G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-4852G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-7759G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-5941G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-7759G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-4875G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-4852G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-4878G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-4875G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-7759G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-4875G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-4875G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-4875G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-4852G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-4875G>T|||||||rs6006054||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191140C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4698;gnomADv4_1_AC_joint_XX=2520;gnomADv4_1_AC_joint_XY=2178;gnomADv4_1_AF_grpmax_joint=0.107268;gnomADv4_1_AF_joint=0.0308555;gnomADv4_1_AF_joint_XX=0.0323916;gnomADv4_1_AF_joint_XY=0.0292506;gnomADv4_1_AN_grpmax_joint=41522;gnomADv4_1_AN_joint=152258;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=263;gnomADv4_1_nhomalt_joint_XX=135;gnomADv4_1_nhomalt_joint_XY=128;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29191225 chr22_29191225_C_T C T 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.791;CADD_Rawscore=0.134735;CSQ=T|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs73397099|472|-1||HGNC|HGNC:48182|||||||||Ensembl||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-4960G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-4960G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-4963G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-6026G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-4960G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-4960G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-4960G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-4937G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-4960G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-4963G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-4963G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-4937G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-7844G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-6026G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-7844G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-4960G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-4937G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-4963G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-4960G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-7844G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-4960G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-4960G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-4960G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-4937G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-4960G>A|||||||rs73397099||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29191225C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4713;gnomADv4_1_AC_joint_XX=2527;gnomADv4_1_AC_joint_XY=2186;gnomADv4_1_AF_grpmax_joint=0.107623;gnomADv4_1_AF_joint=0.0309528;gnomADv4_1_AF_joint_XX=0.0324715;gnomADv4_1_AF_joint_XY=0.0293651;gnomADv4_1_AN_grpmax_joint=41534;gnomADv4_1_AN_joint=152264;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=260;gnomADv4_1_nhomalt_joint_XX=132;gnomADv4_1_nhomalt_joint_XY=128;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29191524 chr22_29191524_T_C T C 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=4.274;CADD_Rawscore=0.389626;CSQ=C|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs111769823|173|-1||HGNC|HGNC:48182|||||||||Ensembl||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-5259A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-5259A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-5262A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-6325A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-5259A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-5259A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-5259A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-5236A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-5259A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-5262A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-5262A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-5236A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-8143A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-6325A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-8143A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-5259A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-5236A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-5262A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-5259A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-8143A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-5259A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-5259A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-5259A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-5236A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-5259A>G|||||||rs111769823||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29191524T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4695;gnomADv4_1_AC_joint_XX=2518;gnomADv4_1_AC_joint_XY=2177;gnomADv4_1_AF_grpmax_joint=0.107298;gnomADv4_1_AF_joint=0.0308654;gnomADv4_1_AF_joint_XX=0.0323875;gnomADv4_1_AF_joint_XY=0.0292741;gnomADv4_1_AN_grpmax_joint=41492;gnomADv4_1_AN_joint=152112;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=261;gnomADv4_1_nhomalt_joint_XX=135;gnomADv4_1_nhomalt_joint_XY=126;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29191545 chr22_29191545_G_A G A 54 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.141;CADD_Rawscore=-0.518608;CSQ=A|downstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs112579745|152|-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-5280C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-5280C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-5283C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-6346C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-5280C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-5280C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-5280C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-5257C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-5280C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-5283C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-5283C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-5257C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-8164C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-6346C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-8164C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-5280C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-5257C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-5283C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-5280C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-8164C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-5280C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-5280C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-5280C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-5257C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-5280C>T|||||||rs112579745||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191545G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1492;gnomADv4_1_AC_joint_XX=811;gnomADv4_1_AC_joint_XY=681;gnomADv4_1_AF_grpmax_joint=0.0339988;gnomADv4_1_AF_joint=0.00981153;gnomADv4_1_AF_joint_XX=0.0104322;gnomADv4_1_AF_joint_XY=0.00916234;gnomADv4_1_AN_grpmax_joint=41472;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=21;gnomADv4_1_nhomalt_joint_XX=10;gnomADv4_1_nhomalt_joint_XY=11;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29191795 chr22_29191795_G_A G A 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=3.673;CADD_Rawscore=0.336176;CSQ=A|non_coding_transcript_exon_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA|1/1||ENST00000516143.1:n.14C>T||14|||||rs73399003||-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-5530C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-5530C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-5533C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-6596C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-5530C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-5530C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-5530C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-5507C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-5530C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-5533C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-5533C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-5507C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-8414C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-6596C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-8414C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-5530C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-5507C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-5533C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-5530C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-8414C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-5530C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-5530C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-5530C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-5507C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-5530C>T|||||||rs73399003||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29191795G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2991;gnomADv4_1_AC_joint_XX=1617;gnomADv4_1_AC_joint_XY=1374;gnomADv4_1_AF_grpmax_joint=0.0685882;gnomADv4_1_AF_joint=0.0196528;gnomADv4_1_AF_joint_XX=0.0207878;gnomADv4_1_AF_joint_XY=0.0184663;gnomADv4_1_AN_grpmax_joint=41494;gnomADv4_1_AN_joint=152192;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=103;gnomADv4_1_nhomalt_joint_XX=50;gnomADv4_1_nhomalt_joint_XY=53;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29192109 chr22_29192109_T_C T C 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.818;CADD_Rawscore=-0.069293;CSQ=C|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs132346|301|-1||HGNC|HGNC:48182|||||||||Ensembl||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-5844A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-5844A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-5847A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-6910A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-5844A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1723-5844A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2132-5844A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-5821A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-5844A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-5847A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-5847A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-5821A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-8728A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-6910A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-8728A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1723-5844A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-5821A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-5847A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-5844A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-8728A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-5844A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-5844A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-5844A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-5821A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-5844A>G|||||||rs132346||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29192109T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=121328;gnomADv4_1_AC_joint_XX=62454;gnomADv4_1_AC_joint_XY=58874;gnomADv4_1_AF_grpmax_joint=0.901436;gnomADv4_1_AF_joint=0.79922;gnomADv4_1_AF_joint_XX=0.804571;gnomADv4_1_AF_joint_XY=0.793621;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=151808;gnomADv4_1_AN_joint_XX=77624;gnomADv4_1_AN_joint_XY=74184;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=49770;gnomADv4_1_nhomalt_joint_XX=25805;gnomADv4_1_nhomalt_joint_XY=23965;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29192561 chr22_29192561_CA_C CA C 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.381;CADDIndel_Rawscore=-0.261654;CSQ=-|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs397966494|754|-1||HGNC|HGNC:48182|||||||||Ensembl||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-6297del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-6297del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-6300del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-7363del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-6297del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+5499del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+5499del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-6274del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-6297del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-6300del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-6300del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-6274del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-9181del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-7363del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-9181del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+5499del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-6274del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-6300del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-6297del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-9181del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-6297del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-6297del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-6297del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-6274del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-6297del|||||||rs397966494||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29192574del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8T6NW|open_chromatin_region||||||||||rs397966494|||||||||||||||||||||chr22:g.29192574del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_8T6NW;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1744;gnomADv4_1_AC_joint_XX=934;gnomADv4_1_AC_joint_XY=810;gnomADv4_1_AF_grpmax_joint=0.0406996;gnomADv4_1_AF_joint=0.0129009;gnomADv4_1_AF_joint_XX=0.013331;gnomADv4_1_AF_joint_XY=0.0124382;gnomADv4_1_AN_grpmax_joint=37052;gnomADv4_1_AN_joint=135184;gnomADv4_1_AN_joint_XX=70062;gnomADv4_1_AN_joint_XY=65122;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23;gnomADv4_1_nhomalt_joint_XX=8;gnomADv4_1_nhomalt_joint_XY=15;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29192624 chr22_29192624_G_A G A 55 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.313;CADD_Rawscore=0.053128;CSQ=A|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs112293179|816|-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-6359C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-6359C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-6362C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-7425C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-6359C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+5437C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+5437C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-6336C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-6359C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-6362C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-6362C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-6336C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-9243C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-7425C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-9243C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+5437C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-6336C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-6362C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-6359C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-9243C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-6359C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-6359C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-6359C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-6336C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-6359C>T|||||||rs112293179||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192624G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8T6NW|open_chromatin_region||||||||||rs112293179|||||||||||||||||||||chr22:g.29192624G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_8T6NW;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1618;gnomADv4_1_AC_joint_XX=880;gnomADv4_1_AC_joint_XY=738;gnomADv4_1_AF_grpmax_joint=0.0369532;gnomADv4_1_AF_joint=0.0106295;gnomADv4_1_AF_joint_XX=0.0113148;gnomADv4_1_AF_joint_XY=0.00991349;gnomADv4_1_AN_grpmax_joint=41512;gnomADv4_1_AN_joint=152218;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26;gnomADv4_1_nhomalt_joint_XX=11;gnomADv4_1_nhomalt_joint_XY=15;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29192646 chr22_29192646_G_A G A 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=4.572;CADD_Rawscore=0.416469;CSQ=A|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs60307207|838|-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-6381C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-6381C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-6384C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-7447C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-6381C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+5415C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+5415C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-6358C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-6381C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-6384C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-6384C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-6358C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-9265C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-7447C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-9265C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+5415C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-6358C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-6384C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-6381C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-9265C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-6381C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-6381C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-6381C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-6358C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-6381C>T|||||||rs60307207||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29192646G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8T6NW|open_chromatin_region||||||||||rs60307207|||||||||||||||||||||chr22:g.29192646G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_8T6NW;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11663;gnomADv4_1_AC_joint_XX=5882;gnomADv4_1_AC_joint_XY=5781;gnomADv4_1_AF_grpmax_joint=0.158209;gnomADv4_1_AF_joint=0.0766304;gnomADv4_1_AF_joint_XX=0.0756294;gnomADv4_1_AF_joint_XY=0.0776766;gnomADv4_1_AN_grpmax_joint=41502;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=677;gnomADv4_1_nhomalt_joint_XX=355;gnomADv4_1_nhomalt_joint_XY=322;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29193234 chr22_29193234_C_T C T 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=5.733;CADD_Rawscore=0.526445;CSQ=T|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs73399007|1426|-1||HGNC|HGNC:48182|||||||||Ensembl||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-6969G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-6969G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-6972G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-8035G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-6969G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+4827G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+4827G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-6946G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-6969G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-6972G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-6972G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-6946G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-9853G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-8035G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-9853G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+4827G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-6946G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-6972G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-6969G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-9853G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-6969G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-6969G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-6969G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-6946G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-6969G>A|||||||rs73399007||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193234C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1627;gnomADv4_1_AC_joint_XX=887;gnomADv4_1_AC_joint_XY=740;gnomADv4_1_AF_grpmax_joint=0.0371396;gnomADv4_1_AF_joint=0.0106857;gnomADv4_1_AF_joint_XX=0.0113984;gnomADv4_1_AF_joint_XY=0.00994062;gnomADv4_1_AN_grpmax_joint=41546;gnomADv4_1_AN_joint=152260;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25;gnomADv4_1_nhomalt_joint_XX=11;gnomADv4_1_nhomalt_joint_XY=14;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29193408 chr22_29193408_C_CA C CA 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=1.099;CADDIndel_Rawscore=0.006715;CSQ=A|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs374554698|1600|-1||HGNC|HGNC:48182|||||||||Ensembl|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-7144dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-7144dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-7147dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-8210dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-7144dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+4652dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+4652dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-7121dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-7144dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-7147dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-7147dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-7121dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-10028dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-8210dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-10028dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+4652dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-7121dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-7147dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-7144dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-10028dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-7144dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-7144dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-7144dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-7121dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-7144dup|||||||rs374554698||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29193418dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3801;gnomADv4_1_AC_joint_XX=2023;gnomADv4_1_AC_joint_XY=1778;gnomADv4_1_AF_grpmax_joint=0.0855537;gnomADv4_1_AF_joint=0.0257555;gnomADv4_1_AF_joint_XX=0.0267253;gnomADv4_1_AF_joint_XY=0.0247343;gnomADv4_1_AN_grpmax_joint=40384;gnomADv4_1_AN_joint=147580;gnomADv4_1_AN_joint_XX=75696;gnomADv4_1_AN_joint_XY=71884;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=141;gnomADv4_1_nhomalt_joint_XX=67;gnomADv4_1_nhomalt_joint_XY=74;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29193423 chr22_29193423_G_A G A 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=29;CADD_PHREDscore=1.825;CADD_Rawscore=0.139778;CSQ=A|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs1017438233|1615|-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-7158C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-7158C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-7161C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-8224C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-7158C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+4638C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+4638C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-7135C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-7158C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-7161C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-7161C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-7135C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-10042C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-8224C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-10042C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+4638C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-7135C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-7161C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-7158C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-10042C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-7158C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-7158C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-7158C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-7135C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-7158C>T|||||||rs1017438233||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193423G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29193555 chr22_29193555_C_T C T 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.769;CADD_Rawscore=-0.085019;CSQ=T|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs111643810|1747|-1||HGNC|HGNC:48182|||||||||Ensembl||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-7290G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-7290G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-7293G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-8356G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-7290G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+4506G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+4506G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-7267G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-7290G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-7293G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-7293G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-7267G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-10174G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-8356G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-10174G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+4506G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-7267G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-7293G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-7290G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-10174G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-7290G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-7290G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-7290G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-7267G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-7290G>A|||||||rs111643810||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29193555C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1490;gnomADv4_1_AC_joint_XX=804;gnomADv4_1_AC_joint_XY=686;gnomADv4_1_AF_grpmax_joint=0.0409855;gnomADv4_1_AF_joint=0.0113019;gnomADv4_1_AF_joint_XX=0.0115249;gnomADv4_1_AF_joint_XY=0.0110513;gnomADv4_1_AN_grpmax_joint=34256;gnomADv4_1_AN_joint=131836;gnomADv4_1_AN_joint_XX=69762;gnomADv4_1_AN_joint_XY=62074;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25;gnomADv4_1_nhomalt_joint_XX=10;gnomADv4_1_nhomalt_joint_XY=15;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29193568 chr22_29193568_CA_C CA C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=0.137;CADDIndel_Rawscore=-0.526335;CSQ=-|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs1292687808|1761|-1||HGNC|HGNC:48182|||||||||Ensembl||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-7304del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-7304del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-7307del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-8370del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-7304del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+4492del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+4492del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-7281del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-7304del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-7307del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-7307del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-7281del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-10188del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-8370del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-10188del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+4492del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-7281del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-7307del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-7304del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-10188del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-7304del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-7304del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-7304del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-7281del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-7304del|||||||rs1292687808||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29193587del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6090;gnomADv4_1_AC_joint_XX=3195;gnomADv4_1_AC_joint_XY=2895;gnomADv4_1_AF_grpmax_joint=0.184866;gnomADv4_1_AF_joint=0.11567;gnomADv4_1_AF_joint_XX=0.115711;gnomADv4_1_AF_joint_XY=0.115624;gnomADv4_1_AN_grpmax_joint=2088;gnomADv4_1_AN_joint=52650;gnomADv4_1_AN_joint_XX=27612;gnomADv4_1_AN_joint_XY=25038;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=85;gnomADv4_1_nhomalt_joint_XX=50;gnomADv4_1_nhomalt_joint_XY=35;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29193726 chr22_29193726_AT_A AT A 53 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.168;CADDIndel_Rawscore=-0.472955;CSQ=-|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs150108010|1919|-1||HGNC|HGNC:48182|||||||||Ensembl||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-7462del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-7462del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-7465del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-8528del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-7462del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+4334del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+4334del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-7439del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-7462del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-7465del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-7465del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-7439del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-10346del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-8528del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-10346del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+4334del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-7439del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-7465del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-7462del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-10346del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-7462del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-7462del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-7462del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-7439del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-7462del|||||||rs150108010||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29193735del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5305;gnomADv4_1_AC_joint_XX=2845;gnomADv4_1_AC_joint_XY=2460;gnomADv4_1_AF_grpmax_joint=0.121925;gnomADv4_1_AF_joint=0.0350304;gnomADv4_1_AF_joint_XX=0.0367391;gnomADv4_1_AF_joint_XY=0.0332423;gnomADv4_1_AN_grpmax_joint=41304;gnomADv4_1_AN_joint=151440;gnomADv4_1_AN_joint_XX=77438;gnomADv4_1_AN_joint_XY=74002;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=317;gnomADv4_1_nhomalt_joint_XX=173;gnomADv4_1_nhomalt_joint_XY=144;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29193784 chr22_29193784_G_A G A 62 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=62;CADD_PHREDscore=1.33;CADD_Rawscore=0.056509;CSQ=A|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs132347|1976|-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-7519C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-7519C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-7522C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-8585C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-7519C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+4277C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+4277C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-7496C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-7519C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-7522C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-7522C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-7496C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-10403C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-8585C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-10403C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+4277C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-7496C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-7522C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-7519C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-10403C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-7519C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-7519C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-7519C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-7496C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-7519C>T|||||||rs132347||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29193784G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119336;gnomADv4_1_AC_joint_XX=61353;gnomADv4_1_AC_joint_XY=57983;gnomADv4_1_AF_grpmax_joint=0.904597;gnomADv4_1_AF_joint=0.78495;gnomADv4_1_AF_joint_XX=0.789573;gnomADv4_1_AF_joint_XY=0.780117;gnomADv4_1_AN_grpmax_joint=68006;gnomADv4_1_AN_joint=152030;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=48618;gnomADv4_1_nhomalt_joint_XX=25128;gnomADv4_1_nhomalt_joint_XY=23490;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29194234 chr22_29194234_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.673;CADD_Rawscore=0.116749;CSQ=G|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs132348|2426|-1||HGNC|HGNC:48182|||||||||Ensembl||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-7969T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-7969T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-7972T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-9035T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-7969T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+3827T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+3827T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-7946T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-7969T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-7972T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-7972T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-7946T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.525-10853T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-9035T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.525-10853T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+3827T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-7946T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-7972T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-7969T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.525-10853T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-7969T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-7969T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-7969T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-7946T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-7969T>C|||||||rs132348||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194234A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=135184;gnomADv4_1_AC_joint_XX=69407;gnomADv4_1_AC_joint_XY=65777;gnomADv4_1_AF_grpmax_joint=0.935365;gnomADv4_1_AF_joint=0.888141;gnomADv4_1_AF_joint_XX=0.892236;gnomADv4_1_AF_joint_XY=0.883862;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152210;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=60457;gnomADv4_1_nhomalt_joint_XX=31156;gnomADv4_1_nhomalt_joint_XY=29301;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29194422 chr22_29194422_CGG_C CGG C 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=18;CADDIndel_PHREDscore=0.04;CADDIndel_Rawscore=-0.859137;CSQ=-|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs132349|2615|-1||HGNC|HGNC:48182|||||||||Ensembl||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-8159_525-8158del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-8159_525-8158del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-8162_525-8161del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-9225_525-9224del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-8159_525-8158del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+3637_1722+3638del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+3637_2131+3638del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-8136_525-8135del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-8159_525-8158del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-8162_525-8161del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-8162_525-8161del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-8136_525-8135del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+10736_524+10737del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-9225_525-9224del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+10736_524+10737del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+3637_1722+3638del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-8136_525-8135del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-8162_525-8161del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-8159_525-8158del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+10736_524+10737del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-8159_525-8158del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-8159_525-8158del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-8159_525-8158del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-8136_525-8135del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-8159_525-8158del|||||||rs132349||-1||EntrezGene||||||||||RefSeq||GG|GG||||chr22:g.29194430_29194431del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73376;gnomADv4_1_AC_joint_XX=37720;gnomADv4_1_AC_joint_XY=35656;gnomADv4_1_AF_grpmax_joint=0.796296;gnomADv4_1_AF_joint=0.707539;gnomADv4_1_AF_joint_XX=0.695941;gnomADv4_1_AF_joint_XY=0.720236;gnomADv4_1_AN_grpmax_joint=216;gnomADv4_1_AN_joint=103706;gnomADv4_1_AN_joint_XX=54200;gnomADv4_1_AN_joint_XY=49506;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=22419;gnomADv4_1_nhomalt_joint_XX=11075;gnomADv4_1_nhomalt_joint_XY=11344;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29194476 chr22_29194476_C_G C G 26 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=26;CADD_PHREDscore=14.48;CADD_Rawscore=1.55034;CSQ=G|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs73399012|2668|-1||HGNC|HGNC:48182|||||||||Ensembl||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-8211G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-8211G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-8214G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-9277G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-8211G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+3585G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+3585G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-8188G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-8211G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-8214G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-8214G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-8188G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+10684G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-9277G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+10684G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+3585G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-8188G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-8214G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-8211G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+10684G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-8211G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-8211G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-8211G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-8188G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-8211G>C|||||||rs73399012||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194476C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_58TDWM|CTCF_binding_site||||||||||rs73399012|||||||||||||||||||||chr22:g.29194476C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_58TDWM;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1521;gnomADv4_1_AC_joint_XX=831;gnomADv4_1_AC_joint_XY=690;gnomADv4_1_AF_grpmax_joint=0.0348719;gnomADv4_1_AF_joint=0.00999632;gnomADv4_1_AF_joint_XX=0.0106854;gnomADv4_1_AF_joint_XY=0.00927594;gnomADv4_1_AN_grpmax_joint=41466;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23;gnomADv4_1_nhomalt_joint_XX=9;gnomADv4_1_nhomalt_joint_XY=14;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29194506 chr22_29194506_G_T G T 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=27;CADD_PHREDscore=12.49;CADD_Rawscore=1.24025;CSQ=T|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs60597181|2698|-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-8241C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-8241C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-8244C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-9307C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-8241C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+3555C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+3555C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-8218C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-8241C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-8244C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-8244C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-8218C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+10654C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-9307C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+10654C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+3555C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-8218C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-8244C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-8241C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+10654C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-8241C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-8241C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-8241C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-8218C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-8241C>A|||||||rs60597181||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194506G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3666;gnomADv4_1_AC_joint_XX=1994;gnomADv4_1_AC_joint_XY=1672;gnomADv4_1_AF_grpmax_joint=0.0834419;gnomADv4_1_AF_joint=0.0240874;gnomADv4_1_AF_joint_XX=0.0256325;gnomADv4_1_AF_joint_XY=0.0224719;gnomADv4_1_AN_grpmax_joint=41466;gnomADv4_1_AN_joint=152196;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=150;gnomADv4_1_nhomalt_joint_XX=89;gnomADv4_1_nhomalt_joint_XY=61;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29194601 chr22_29194601_G_A G A 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=4.784;CADD_Rawscore=0.435807;CSQ=A|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs73399014|2793|-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-8336C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-8336C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-8339C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-9402C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-8336C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+3460C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+3460C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-8313C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-8336C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-8339C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-8339C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-8313C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+10559C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-9402C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+10559C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+3460C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-8313C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-8339C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-8336C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+10559C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-8336C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-8336C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-8336C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-8313C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-8336C>T|||||||rs73399014||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29194601G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1477;gnomADv4_1_AC_joint_XX=805;gnomADv4_1_AC_joint_XY=672;gnomADv4_1_AF_grpmax_joint=0.0337006;gnomADv4_1_AF_joint=0.00969605;gnomADv4_1_AF_joint_XX=0.0103423;gnomADv4_1_AF_joint_XY=0.00902086;gnomADv4_1_AN_grpmax_joint=41572;gnomADv4_1_AN_joint=152330;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74494;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22;gnomADv4_1_nhomalt_joint_XX=10;gnomADv4_1_nhomalt_joint_XY=12;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29194662 chr22_29194662_A_G A G 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=10.55;CADD_Rawscore=1.01909;CSQ=G|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs73399017|2854|-1||HGNC|HGNC:48182|||||||||Ensembl||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-8397T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-8397T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-8400T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-9463T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-8397T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+3399T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+3399T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-8374T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-8397T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-8400T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-8400T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-8374T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+10498T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-9463T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+10498T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+3399T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-8374T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-8400T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-8397T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+10498T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-8397T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-8397T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-8397T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-8374T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-8397T>C|||||||rs73399017||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29194662A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1628;gnomADv4_1_AC_joint_XX=886;gnomADv4_1_AC_joint_XY=742;gnomADv4_1_AF_grpmax_joint=0.0371457;gnomADv4_1_AF_joint=0.0106883;gnomADv4_1_AF_joint_XX=0.0113826;gnomADv4_1_AF_joint_XY=0.00996267;gnomADv4_1_AN_grpmax_joint=41566;gnomADv4_1_AN_joint=152316;gnomADv4_1_AN_joint_XX=77838;gnomADv4_1_AN_joint_XY=74478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26;gnomADv4_1_nhomalt_joint_XX=11;gnomADv4_1_nhomalt_joint_XY=15;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29194791 chr22_29194791_T_C T C 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.521;CADD_Rawscore=-0.18268;CSQ=C|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs12160349|2983|-1||HGNC|HGNC:48182|||||||||Ensembl||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-8526A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-8526A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-8529A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-9592A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-8526A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+3270A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+3270A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-8503A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-8526A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-8529A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-8529A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-8503A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+10369A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-9592A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+10369A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+3270A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-8503A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-8529A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-8526A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+10369A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-8526A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-8526A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-8526A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-8503A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-8526A>G|||||||rs12160349||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29194791T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4718;gnomADv4_1_AC_joint_XX=2528;gnomADv4_1_AC_joint_XY=2190;gnomADv4_1_AF_grpmax_joint=0.107923;gnomADv4_1_AF_joint=0.0310264;gnomADv4_1_AF_joint_XX=0.0325228;gnomADv4_1_AF_joint_XY=0.0294616;gnomADv4_1_AN_grpmax_joint=41474;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=265;gnomADv4_1_nhomalt_joint_XX=136;gnomADv4_1_nhomalt_joint_XY=129;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29194941 chr22_29194941_C_T C T 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=2.043;CADD_Rawscore=0.169626;CSQ=T|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs12159432|3133|-1||HGNC|HGNC:48182|||||||||Ensembl||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-8676G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-8676G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-8679G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-9742G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-8676G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+3120G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+3120G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-8653G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-8676G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-8679G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-8679G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-8653G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+10219G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-9742G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+10219G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+3120G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-8653G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-8679G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-8676G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+10219G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-8676G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-8676G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-8676G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-8653G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-8676G>A|||||||rs12159432||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29194941C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4650;gnomADv4_1_AC_joint_XX=2492;gnomADv4_1_AC_joint_XY=2158;gnomADv4_1_AF_grpmax_joint=0.108632;gnomADv4_1_AF_joint=0.0313719;gnomADv4_1_AF_joint_XX=0.032605;gnomADv4_1_AF_joint_XY=0.0300591;gnomADv4_1_AN_grpmax_joint=40568;gnomADv4_1_AN_joint=148222;gnomADv4_1_AN_joint_XX=76430;gnomADv4_1_AN_joint_XY=71792;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=259;gnomADv4_1_nhomalt_joint_XX=133;gnomADv4_1_nhomalt_joint_XY=126;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29194992 chr22_29194992_C_CA C CA 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADDIndel_PHREDscore=0.305;CADDIndel_Rawscore=-0.317412;CSQ=A|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs55936374|3184|-1||HGNC|HGNC:48182|||||||||Ensembl|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-8728dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-8728dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-8731dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-9794dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-8728dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+3068dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+3068dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-8705dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-8728dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-8731dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-8731dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-8705dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+10167dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-9794dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+10167dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+3068dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-8705dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-8731dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-8728dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+10167dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-8728dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-8728dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-8728dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-8705dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-8728dup|||||||rs55936374||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29195007dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72027;gnomADv4_1_AC_joint_XX=38127;gnomADv4_1_AC_joint_XY=33900;gnomADv4_1_AF_grpmax_joint=0.709968;gnomADv4_1_AF_joint=0.576862;gnomADv4_1_AF_joint_XX=0.580709;gnomADv4_1_AF_joint_XY=0.572596;gnomADv4_1_AN_grpmax_joint=4434;gnomADv4_1_AN_joint=124860;gnomADv4_1_AN_joint_XX=65656;gnomADv4_1_AN_joint_XY=59204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=22541;gnomADv4_1_nhomalt_joint_XX=12083;gnomADv4_1_nhomalt_joint_XY=10458;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29195139 chr22_29195139_C_T C T 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.063;CADD_Rawscore=-0.73603;CSQ=T|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs132350|3331|-1||HGNC|HGNC:48182|||||||||Ensembl||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-8874G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-8874G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-8877G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.525-9940G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-8874G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+2922G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+2922G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-8851G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-8874G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-8877G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-8877G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-8851G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+10021G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.525-9940G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+10021G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+2922G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-8851G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-8877G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-8874G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+10021G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-8874G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-8874G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-8874G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-8851G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-8874G>A|||||||rs132350||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29195139C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=138020;gnomADv4_1_AC_joint_XX=70877;gnomADv4_1_AC_joint_XY=67143;gnomADv4_1_AF_grpmax_joint=0.9354;gnomADv4_1_AF_joint=0.906297;gnomADv4_1_AF_joint_XX=0.910477;gnomADv4_1_AF_joint_XY=0.901926;gnomADv4_1_AN_grpmax_joint=68034;gnomADv4_1_AN_joint=152290;gnomADv4_1_AN_joint_XX=77846;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=62854;gnomADv4_1_nhomalt_joint_XX=32392;gnomADv4_1_nhomalt_joint_XY=30462;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29195539 chr22_29195539_A_G A G 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.054;CADD_Rawscore=-0.779132;CSQ=G|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs59330168|3731|-1||HGNC|HGNC:48182|||||||||Ensembl||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-9274T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-9274T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-9277T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+9621T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-9274T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+2522T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+2522T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-9251T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-9274T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-9277T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-9277T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-9251T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+9621T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+9621T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+9621T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+2522T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-9251T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-9277T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-9274T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+9621T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-9274T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-9274T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-9274T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-9251T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-9274T>C|||||||rs59330168||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195539A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4721;gnomADv4_1_AC_joint_XX=2531;gnomADv4_1_AC_joint_XY=2190;gnomADv4_1_AF_grpmax_joint=0.107717;gnomADv4_1_AF_joint=0.0309956;gnomADv4_1_AF_joint_XX=0.0325188;gnomADv4_1_AF_joint_XY=0.0294039;gnomADv4_1_AN_grpmax_joint=41572;gnomADv4_1_AN_joint=152312;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74480;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=261;gnomADv4_1_nhomalt_joint_XX=136;gnomADv4_1_nhomalt_joint_XY=125;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29195637 chr22_29195637_A_C A C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.545;CADD_Rawscore=0.095855;CSQ=C|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs132351|3829|-1||HGNC|HGNC:48182|||||||||Ensembl||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.525-9372T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.525-9372T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.525-9375T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+9523T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.525-9372T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+2424T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+2424T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.525-9349T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.525-9372T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.525-9375T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.525-9375T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.525-9349T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+9523T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+9523T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+9523T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+2424T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.525-9349T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.525-9375T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.525-9372T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+9523T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.525-9372T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.525-9372T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.525-9372T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.525-9349T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.525-9372T>G|||||||rs132351||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29195637A>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FKTS|enhancer||||||||||rs132351|||||||||||||||||||||chr22:g.29195637A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_9FKTS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=133275;gnomADv4_1_AC_joint_XX=68326;gnomADv4_1_AC_joint_XY=64949;gnomADv4_1_AF_grpmax_joint=0.935093;gnomADv4_1_AF_joint=0.875553;gnomADv4_1_AF_joint_XX=0.878317;gnomADv4_1_AF_joint_XY=0.872665;gnomADv4_1_AN_grpmax_joint=68020;gnomADv4_1_AN_joint=152218;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=58979;gnomADv4_1_nhomalt_joint_XX=30307;gnomADv4_1_nhomalt_joint_XY=28672;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29195815 chr22_29195815_CTG_C;chr22_29195815_CTGTG_C CTG C 45 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=1.04;CADDIndel_Rawscore=-0.00763;CSQ=-|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs55766207|4008|-1||HGNC|HGNC:48182|||||||||Ensembl||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+2244_1722+2245del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+2244_2131+2245del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+2244_1722+2245del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+9343_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TG|TG||||chr22:g.29195841_29195842del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FKTS|enhancer||||||||||rs55766207|||||||||||||||||||||chr22:g.29195841_29195842del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_9FKTS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=105636;gnomADv4_1_AC_joint_XX=53929;gnomADv4_1_AC_joint_XY=51707;gnomADv4_1_AF_grpmax_joint=0.838729;gnomADv4_1_AF_joint=0.704841;gnomADv4_1_AF_joint_XX=0.702201;gnomADv4_1_AF_joint_XY=0.707617;gnomADv4_1_AN_grpmax_joint=5066;gnomADv4_1_AN_joint=149872;gnomADv4_1_AN_joint_XX=76800;gnomADv4_1_AN_joint_XY=73072;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=39460;gnomADv4_1_nhomalt_joint_XX=20155;gnomADv4_1_nhomalt_joint_XY=19305;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29195815 chr22_29195815_CTG_C;chr22_29195815_CTGTG_C CTGTG C 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=2.873;CADDIndel_Rawscore=0.262127;CSQ=-|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs55766207|4008|-1||HGNC|HGNC:48182|||||||||Ensembl||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+2242_1722+2245del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+2242_2131+2245del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+2242_1722+2245del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+9341_524+9344del|||||||rs55766207||-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29195839_29195842del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FKTS|enhancer||||||||||rs55766207|||||||||||||||||||||chr22:g.29195839_29195842del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_9FKTS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27603;gnomADv4_1_AC_joint_XX=14647;gnomADv4_1_AC_joint_XY=12956;gnomADv4_1_AF_grpmax_joint=0.394422;gnomADv4_1_AF_joint=0.184737;gnomADv4_1_AF_joint_XX=0.191129;gnomADv4_1_AF_joint_XY=0.178006;gnomADv4_1_AN_grpmax_joint=40946;gnomADv4_1_AN_joint=149418;gnomADv4_1_AN_joint_XX=76634;gnomADv4_1_AN_joint_XY=72784;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3903;gnomADv4_1_nhomalt_joint_XX=2128;gnomADv4_1_nhomalt_joint_XY=1775;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29195986 chr22_29195986_TG_T TG T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADDIndel_PHREDscore=0.288;CADDIndel_Rawscore=-0.332216;CSQ=-|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs56055468|4179|-1||HGNC|HGNC:48182|||||||||Ensembl||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+2074del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+2074del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+2074del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+9173del|||||||rs56055468||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29195992del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FKTS|enhancer||||||||||rs56055468|||||||||||||||||||||chr22:g.29195992del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_9FKTS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=133046;gnomADv4_1_AC_joint_XX=68213;gnomADv4_1_AC_joint_XY=64833;gnomADv4_1_AF_grpmax_joint=0.934863;gnomADv4_1_AF_joint=0.875614;gnomADv4_1_AF_joint_XX=0.878309;gnomADv4_1_AF_joint_XY=0.872796;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=151946;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=58873;gnomADv4_1_nhomalt_joint_XX=30255;gnomADv4_1_nhomalt_joint_XY=28618;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29196014 chr22_29196014_C_T C T 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=3.488;CADD_Rawscore=0.319652;CSQ=T|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs73399023|4206|-1||HGNC|HGNC:48182|||||||||Ensembl||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+2047G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+2047G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+2047G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+9146G>A|||||||rs73399023||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29196014C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1637;gnomADv4_1_AC_joint_XX=891;gnomADv4_1_AC_joint_XY=746;gnomADv4_1_AF_grpmax_joint=0.0373447;gnomADv4_1_AF_joint=0.0107543;gnomADv4_1_AF_joint_XX=0.0114524;gnomADv4_1_AF_joint_XY=0.0100245;gnomADv4_1_AN_grpmax_joint=41532;gnomADv4_1_AN_joint=152218;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26;gnomADv4_1_nhomalt_joint_XX=11;gnomADv4_1_nhomalt_joint_XY=15;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29196418 chr22_29196418_G_GAC;chr22_29196418_GAC_G G GAC 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=1.056;CADDIndel_Rawscore=-0.003662;CSQ=AC|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs56989099|4610|-1||HGNC|HGNC:48182|||||||||Ensembl|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+1641_1722+1642dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+1641_2131+1642dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+1641_1722+1642dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+8740_524+8741dup|||||||rs56989099||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29196436_29196437dup|||||||||||||;TYPE=INDEL;VEP_Allele=AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=128923;gnomADv4_1_AC_joint_XX=66402;gnomADv4_1_AC_joint_XY=62521;gnomADv4_1_AF_grpmax_joint=0.925668;gnomADv4_1_AF_joint=0.864814;gnomADv4_1_AF_joint_XX=0.869728;gnomADv4_1_AF_joint_XY=0.859655;gnomADv4_1_AN_grpmax_joint=66862;gnomADv4_1_AN_joint=149076;gnomADv4_1_AN_joint_XX=76348;gnomADv4_1_AN_joint_XY=72728;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=56280;gnomADv4_1_nhomalt_joint_XX=29132;gnomADv4_1_nhomalt_joint_XY=27148;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29196418 chr22_29196418_G_GAC;chr22_29196418_GAC_G GAC G 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.727;CADDIndel_Rawscore=-0.099329;CSQ=-|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs56989099|4611|-1||HGNC|HGNC:48182|||||||||Ensembl||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+1641_1722+1642del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+1641_2131+1642del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+1641_1722+1642del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+8740_524+8741del|||||||rs56989099||-1||EntrezGene||||||||||RefSeq||AC|AC||||chr22:g.29196436_29196437del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=375;gnomADv4_1_AC_joint_XX=187;gnomADv4_1_AC_joint_XY=188;gnomADv4_1_AF_grpmax_joint=0.00572707;gnomADv4_1_AF_joint=0.00251465;gnomADv4_1_AF_joint_XX=0.00244835;gnomADv4_1_AF_joint_XY=0.00258426;gnomADv4_1_AN_grpmax_joint=40684;gnomADv4_1_AN_joint=149126;gnomADv4_1_AN_joint_XX=76378;gnomADv4_1_AN_joint_XY=72748;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29196649 chr22_29196649_T_G T G 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.411;CADD_Rawscore=-0.24256;CSQ=G|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs73399025|4841|-1||HGNC|HGNC:48182|||||||||Ensembl||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+1412A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+1412A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+1412A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+8511A>C|||||||rs73399025||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196649T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1642;gnomADv4_1_AC_joint_XX=890;gnomADv4_1_AC_joint_XY=752;gnomADv4_1_AF_grpmax_joint=0.0374946;gnomADv4_1_AF_joint=0.0107862;gnomADv4_1_AF_joint_XX=0.0114414;gnomADv4_1_AF_joint_XY=0.0101016;gnomADv4_1_AN_grpmax_joint=41526;gnomADv4_1_AN_joint=152232;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26;gnomADv4_1_nhomalt_joint_XX=11;gnomADv4_1_nhomalt_joint_XY=15;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29196700 chr22_29196700_T_C T C 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.31;CADD_Rawscore=0.052553;CSQ=C|upstream_gene_variant|MODIFIER|RNU6-1219P|ENSG00000251952|Transcript|ENST00000516143|snRNA||||||||||rs111957988|4892|-1||HGNC|HGNC:48182|||||||||Ensembl||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+1361A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+1361A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+1361A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+8460A>G|||||||rs111957988||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29196700T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000516143,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251952,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=RNU6-1219P,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1640;gnomADv4_1_AC_joint_XX=889;gnomADv4_1_AC_joint_XY=751;gnomADv4_1_AF_grpmax_joint=0.0374645;gnomADv4_1_AF_joint=0.0107797;gnomADv4_1_AF_joint_XX=0.0114314;gnomADv4_1_AF_joint_XY=0.0100982;gnomADv4_1_AN_grpmax_joint=41506;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26;gnomADv4_1_nhomalt_joint_XX=11;gnomADv4_1_nhomalt_joint_XY=15;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29196894 chr22_29196894_GA_G GA G 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.747;CADDIndel_Rawscore=-0.092654;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||3/5|XR_007068046.1:n.1722+1166del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||3/5|XR_007068047.1:n.2131+1166del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||3/4|XR_007068056.1:n.1722+1166del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+8265del|||||||rs369670815||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29196906del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1845;gnomADv4_1_AC_joint_XX=995;gnomADv4_1_AC_joint_XY=850;gnomADv4_1_AF_grpmax_joint=0.0446217;gnomADv4_1_AF_joint=0.0133655;gnomADv4_1_AF_joint_XX=0.0139383;gnomADv4_1_AF_joint_XY=0.012752;gnomADv4_1_AN_grpmax_joint=37986;gnomADv4_1_AN_joint=138042;gnomADv4_1_AN_joint_XX=71386;gnomADv4_1_AN_joint_XY=66656;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31;gnomADv4_1_nhomalt_joint_XX=11;gnomADv4_1_nhomalt_joint_XY=20;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29198639 chr22_29198639_A_AT A AT 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=2.534;CADDIndel_Rawscore=0.227343;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA|3/6||XR_007068046.1:n.1143dup||1143-1144|||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA|3/6||XR_007068047.1:n.1552dup||1552-1553|||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA|3/5||XR_007068056.1:n.1143dup||1143-1144|||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+6520dup|||||||rs11384487||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198640dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152279;gnomADv4_1_AC_joint_XX=77827;gnomADv4_1_AC_joint_XY=74452;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999993;gnomADv4_1_AF_joint_XX=0.999987;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68036;gnomADv4_1_AN_joint=152280;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76139;gnomADv4_1_nhomalt_joint_XX=38913;gnomADv4_1_nhomalt_joint_XY=37226;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29198644 chr22_29198644_G_C G C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.368;CADD_Rawscore=0.063903;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA|3/6||XR_007068046.1:n.1139C>G||1139|||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA|3/6||XR_007068047.1:n.1548C>G||1548|||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA|3/5||XR_007068056.1:n.1139C>G||1139|||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+6516C>G|||||||rs35106920||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29198644G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=112271;gnomADv4_1_AC_joint_XX=57709;gnomADv4_1_AC_joint_XY=54562;gnomADv4_1_AF_grpmax_joint=0.871229;gnomADv4_1_AF_joint=0.738071;gnomADv4_1_AF_joint_XX=0.742238;gnomADv4_1_AF_joint_XY=0.733715;gnomADv4_1_AN_grpmax_joint=68012;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=43662;gnomADv4_1_nhomalt_joint_XX=22554;gnomADv4_1_nhomalt_joint_XY=21108;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29198924 chr22_29198924_C_CA C CA 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=1.585;CADDIndel_Rawscore=0.102589;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA|3/6||XR_007068046.1:n.858dup||858-859|||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA|3/6||XR_007068047.1:n.1267dup||1267-1268|||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA|3/5||XR_007068056.1:n.858dup||858-859|||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+6235dup|||||||rs132353||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29198938dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=138923;gnomADv4_1_AC_joint_XX=71827;gnomADv4_1_AC_joint_XY=67096;gnomADv4_1_AF_grpmax_joint=0.988508;gnomADv4_1_AF_joint=0.961485;gnomADv4_1_AF_joint_XX=0.962803;gnomADv4_1_AF_joint_XY=0.960078;gnomADv4_1_AN_grpmax_joint=4960;gnomADv4_1_AN_joint=144488;gnomADv4_1_AN_joint_XX=74602;gnomADv4_1_AN_joint_XY=69886;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=66792;gnomADv4_1_nhomalt_joint_XX=34589;gnomADv4_1_nhomalt_joint_XY=32203;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29199135 chr22_29199135_G_GA G GA 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=1.254;CADDIndel_Rawscore=0.041045;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA|3/6||XR_007068046.1:n.647dup||647-648|||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA|3/6||XR_007068047.1:n.1056dup||1056-1057|||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA|3/5||XR_007068056.1:n.647dup||647-648|||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+6024dup|||||||rs55950297||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199144dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=123463;gnomADv4_1_AC_joint_XX=63685;gnomADv4_1_AC_joint_XY=59778;gnomADv4_1_AF_grpmax_joint=0.904475;gnomADv4_1_AF_joint=0.824758;gnomADv4_1_AF_joint_XX=0.830551;gnomADv4_1_AF_joint_XY=0.818675;gnomADv4_1_AN_grpmax_joint=67668;gnomADv4_1_AN_joint=149696;gnomADv4_1_AN_joint_XX=76678;gnomADv4_1_AN_joint_XY=73018;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=51417;gnomADv4_1_nhomalt_joint_XX=26706;gnomADv4_1_nhomalt_joint_XY=24711;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29199154 chr22_29199154_G_GAA G GAA 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.61;CADDIndel_Rawscore=-0.143561;CSQ=AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA|3/6||XR_007068046.1:n.627_628dup||628-629|||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA|3/6||XR_007068047.1:n.1036_1037dup||1037-1038|||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA|3/5||XR_007068056.1:n.627_628dup||628-629|||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+6004_524+6005dup|||||||rs56010114||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29199155_29199156dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=134329;gnomADv4_1_AC_joint_XX=69049;gnomADv4_1_AC_joint_XY=65280;gnomADv4_1_AF_grpmax_joint=0.93501;gnomADv4_1_AF_joint=0.887304;gnomADv4_1_AF_joint_XX=0.891369;gnomADv4_1_AF_joint_XY=0.883045;gnomADv4_1_AN_grpmax_joint=67872;gnomADv4_1_AN_joint=151390;gnomADv4_1_AN_joint_XX=77464;gnomADv4_1_AN_joint_XY=73926;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=60015;gnomADv4_1_nhomalt_joint_XX=30964;gnomADv4_1_nhomalt_joint_XY=29051;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29199292 chr22_29199292_T_C T C 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=11.24;CADD_Rawscore=1.08589;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.525-34A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA|3/6||XR_007068047.1:n.900A>G||900|||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.525-34A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+5868A>G|||||||rs73399031||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199292T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11256;gnomADv4_1_AC_joint_XX=5617;gnomADv4_1_AC_joint_XY=5639;gnomADv4_1_AF_grpmax_joint=0.14767;gnomADv4_1_AF_joint=0.0739641;gnomADv4_1_AF_joint_XX=0.0722258;gnomADv4_1_AF_joint_XY=0.0757808;gnomADv4_1_AN_grpmax_joint=41498;gnomADv4_1_AN_joint=152182;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=647;gnomADv4_1_nhomalt_joint_XX=336;gnomADv4_1_nhomalt_joint_XY=311;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29199447 chr22_29199447_T_G T G 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.699;CADD_Rawscore=0.120914;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.525-189A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA|3/6||XR_007068047.1:n.745A>C||745|||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.525-189A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+5713A>C|||||||rs132354||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29199447T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=133621;gnomADv4_1_AC_joint_XX=68561;gnomADv4_1_AC_joint_XY=65060;gnomADv4_1_AF_grpmax_joint=0.934944;gnomADv4_1_AF_joint=0.877746;gnomADv4_1_AF_joint_XX=0.881111;gnomADv4_1_AF_joint_XY=0.874227;gnomADv4_1_AN_grpmax_joint=68034;gnomADv4_1_AN_joint=152232;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=59228;gnomADv4_1_nhomalt_joint_XX=30489;gnomADv4_1_nhomalt_joint_XY=28739;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29199874 chr22_29199874_C_T C T 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.101;CADD_Rawscore=-0.609801;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.525-616G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.525-207G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.525-616G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+5286G>A|||||||rs73399034||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29199874C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1544;gnomADv4_1_AC_joint_XX=836;gnomADv4_1_AC_joint_XY=708;gnomADv4_1_AF_grpmax_joint=0.0350712;gnomADv4_1_AF_joint=0.0101407;gnomADv4_1_AF_joint_XX=0.0107444;gnomADv4_1_AF_joint_XY=0.00950974;gnomADv4_1_AN_grpmax_joint=41544;gnomADv4_1_AN_joint=152258;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23;gnomADv4_1_nhomalt_joint_XX=10;gnomADv4_1_nhomalt_joint_XY=13;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29199922 chr22_29199922_G_A G A 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.032;CADD_Rawscore=-0.009772;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.525-664C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.525-255C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.525-664C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+5238C>T|||||||rs132355||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29199922G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=108508;gnomADv4_1_AC_joint_XX=55707;gnomADv4_1_AC_joint_XY=52801;gnomADv4_1_AF_grpmax_joint=0.870641;gnomADv4_1_AF_joint=0.713972;gnomADv4_1_AF_joint_XX=0.716839;gnomADv4_1_AF_joint_XY=0.710971;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=151978;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=42047;gnomADv4_1_nhomalt_joint_XX=21693;gnomADv4_1_nhomalt_joint_XY=20354;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29200451 chr22_29200451_A_T A T 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.46;CADD_Rawscore=0.219344;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.525-1193T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.525-784T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.525-1193T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+4709T>A|||||||rs12628053||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200451A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8456;gnomADv4_1_AC_joint_XX=4162;gnomADv4_1_AC_joint_XY=4294;gnomADv4_1_AF_grpmax_joint=0.0968932;gnomADv4_1_AF_joint=0.0557063;gnomADv4_1_AF_joint_XX=0.0536133;gnomADv4_1_AF_joint_XY=0.0578971;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151796;gnomADv4_1_AN_joint_XX=77630;gnomADv4_1_AN_joint_XY=74166;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=284;gnomADv4_1_nhomalt_joint_XX=148;gnomADv4_1_nhomalt_joint_XY=136;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29200499 chr22_29200499_A_G A G 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=6.262;CADD_Rawscore=0.5799;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.525-1241T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.525-832T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.525-1241T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+4661T>C|||||||rs58306818||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200499A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1332;gnomADv4_1_AC_joint_XX=714;gnomADv4_1_AC_joint_XY=618;gnomADv4_1_AF_grpmax_joint=0.0303154;gnomADv4_1_AF_joint=0.00874888;gnomADv4_1_AF_joint_XX=0.00917667;gnomADv4_1_AF_joint_XY=0.00830177;gnomADv4_1_AN_grpmax_joint=41530;gnomADv4_1_AN_joint=152248;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18;gnomADv4_1_nhomalt_joint_XX=8;gnomADv4_1_nhomalt_joint_XY=10;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29200513 chr22_29200513_T_C T C 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.01;CADD_Rawscore=-1.25047;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.525-1255A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.525-846A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.525-1255A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+4647A>G|||||||rs80604||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29200513T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=134295;gnomADv4_1_AC_joint_XX=68864;gnomADv4_1_AC_joint_XY=65431;gnomADv4_1_AF_grpmax_joint=0.934978;gnomADv4_1_AF_joint=0.882347;gnomADv4_1_AF_joint_XX=0.885346;gnomADv4_1_AF_joint_XY=0.879213;gnomADv4_1_AN_grpmax_joint=68008;gnomADv4_1_AN_joint=152202;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=59757;gnomADv4_1_nhomalt_joint_XX=30727;gnomADv4_1_nhomalt_joint_XY=29030;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29200514 chr22_29200514_G_A G A 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.261;CADD_Rawscore=-0.358232;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.525-1256C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.525-847C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.525-1256C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+4646C>T|||||||rs12627935||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29200514G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8470;gnomADv4_1_AC_joint_XX=4162;gnomADv4_1_AC_joint_XY=4308;gnomADv4_1_AF_grpmax_joint=0.0965997;gnomADv4_1_AF_joint=0.055649;gnomADv4_1_AF_joint_XX=0.0535154;gnomADv4_1_AF_joint_XY=0.0578783;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152204;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=285;gnomADv4_1_nhomalt_joint_XX=148;gnomADv4_1_nhomalt_joint_XY=137;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29200674 chr22_29200674_A_G A G 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.709;CADD_Rawscore=-0.105549;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.525-1416T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.525-1007T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.525-1416T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+4486T>C|||||||rs132356||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200674A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152294;gnomADv4_1_AC_joint_XX=77838;gnomADv4_1_AC_joint_XY=74456;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999987;gnomADv4_1_AF_joint_XX=0.999974;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152296;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=76146;gnomADv4_1_nhomalt_joint_XX=38918;gnomADv4_1_nhomalt_joint_XY=37228;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29200675 chr22_29200675_A_G A G 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.032;CADD_Rawscore=-0.009575;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.525-1417T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.525-1008T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.525-1417T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+4485T>C|||||||rs132357||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29200675A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152302;gnomADv4_1_AC_joint_XX=77840;gnomADv4_1_AC_joint_XY=74462;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68022;gnomADv4_1_AN_joint=152302;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76151;gnomADv4_1_nhomalt_joint_XX=38920;gnomADv4_1_nhomalt_joint_XY=37231;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29201003 chr22_29201003_T_C T C 47 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.425;CADD_Rawscore=0.074591;CSQ=C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs132358|4893|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs132358|4909|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs132358|4909|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs132358|4903|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs132358|4920|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs132358|4956|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs132358|4893|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs132358|4893|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs132358|4893|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs132358|4893|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs132358|4893|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs132358|4893|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs132358|4893|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs132358|4893|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs132358|4893|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs132358|4893|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs132358|4893|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs132358|4893|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs132358|4893|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs132358|4893|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs132358|4893|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.525-1745A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.525-1336A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.525-1745A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs132358|4893|1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs132358|4893|1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+4157A>G|||||||rs132358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29201003T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=134569;gnomADv4_1_AC_joint_XX=68866;gnomADv4_1_AC_joint_XY=65703;gnomADv4_1_AF_grpmax_joint=0.925536;gnomADv4_1_AF_joint=0.883799;gnomADv4_1_AF_joint_XX=0.885031;gnomADv4_1_AF_joint_XY=0.882512;gnomADv4_1_AN_grpmax_joint=15296;gnomADv4_1_AN_joint=152262;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=59732;gnomADv4_1_nhomalt_joint_XX=30603;gnomADv4_1_nhomalt_joint_XY=29129;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29201809 chr22_29201809_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=3.984;CADD_Rawscore=0.363822;CSQ=A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs147092865|4087|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs147092865|4103|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs147092865|4103|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs147092865|4097|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs147092865|4114|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs147092865|4150|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs147092865|4087|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs147092865|4087|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs147092865|4087|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs147092865|4087|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs147092865|4087|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs147092865|4087|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs147092865|4087|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs147092865|4087|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs147092865|4087|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs147092865|4087|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs147092865|4087|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs147092865|4087|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs147092865|4087|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs147092865|4087|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs147092865|4087|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.525-2551C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.525-2142C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.525-2551C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs147092865|4087|1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs147092865|4087|1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+3351C>T|||||||rs147092865||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29201809G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4W8G|enhancer||||||||||rs147092865|||||||||||||||||||||chr22:g.29201809G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_C4W8G;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=551;gnomADv4_1_AC_joint_XX=305;gnomADv4_1_AC_joint_XY=246;gnomADv4_1_AF_grpmax_joint=0.00597164;gnomADv4_1_AF_joint=0.0036219;gnomADv4_1_AF_joint_XX=0.00392293;gnomADv4_1_AF_joint_XY=0.00330725;gnomADv4_1_AN_grpmax_joint=67988;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29202207 chr22_29202207_G_GC G GC 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=0.955;CADDIndel_Rawscore=-0.02968;CSQ=C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs132359|3688|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs132359|3704|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs132359|3704|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs132359|3698|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs132359|3715|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs132359|3751|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs132359|3688|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs132359|3688|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs132359|3688|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs132359|3688|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs132359|3688|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs132359|3688|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs132359|3688|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs132359|3688|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs132359|3688|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs132359|3688|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs132359|3688|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs132359|3688|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs132359|3688|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs132359|3688|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs132359|3688|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.525-2950dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.525-2541dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.525-2950dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs132359|3688|1||EntrezGene|HGNC:18036|||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs132359|3688|1||EntrezGene|HGNC:18036|||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+2952dup|||||||rs132359||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202208dup|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4W8G|enhancer||||||||||rs132359|||||||||||||||||||||chr22:g.29202208dup|||||||||||||;TYPE=INDEL;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_C4W8G;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152344;gnomADv4_1_AC_joint_XX=77856;gnomADv4_1_AC_joint_XY=74488;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68034;gnomADv4_1_AN_joint=152344;gnomADv4_1_AN_joint_XX=77856;gnomADv4_1_AN_joint_XY=74488;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76172;gnomADv4_1_nhomalt_joint_XX=38928;gnomADv4_1_nhomalt_joint_XY=37244;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29202246 chr22_29202246_G_GC G GC 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.987;CADDIndel_Rawscore=-0.021085;CSQ=C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs132360|3649|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs132360|3665|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs132360|3665|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs132360|3659|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs132360|3676|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs132360|3712|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs132360|3649|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs132360|3649|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs132360|3649|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs132360|3649|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs132360|3649|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs132360|3649|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs132360|3649|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs132360|3649|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs132360|3649|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs132360|3649|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs132360|3649|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs132360|3649|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs132360|3649|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs132360|3649|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs132360|3649|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.525-2580dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs132360|3649|1||EntrezGene|HGNC:18036|||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs132360|3649|1||EntrezGene|HGNC:18036|||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+2913dup|||||||rs132360||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29202247dup|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4W8G|enhancer||||||||||rs132360|||||||||||||||||||||chr22:g.29202247dup|||||||||||||;TYPE=INDEL;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_C4W8G;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152376;gnomADv4_1_AC_joint_XX=77870;gnomADv4_1_AC_joint_XY=74506;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68044;gnomADv4_1_AN_joint=152376;gnomADv4_1_AN_joint_XX=77870;gnomADv4_1_AN_joint_XY=74506;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76188;gnomADv4_1_nhomalt_joint_XX=38935;gnomADv4_1_nhomalt_joint_XY=37253;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29202274 chr22_29202274_G_T G T 46 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=2.049;CADD_Rawscore=0.170398;CSQ=T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs1573711|3622|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs1573711|3638|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs1573711|3638|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs1573711|3632|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs1573711|3649|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs1573711|3685|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs1573711|3622|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs1573711|3622|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs1573711|3622|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs1573711|3622|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs1573711|3622|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs1573711|3622|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs1573711|3622|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs1573711|3622|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs1573711|3622|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs1573711|3622|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs1573711|3622|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs1573711|3622|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs1573711|3622|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs1573711|3622|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs1573711|3622|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.525-2607C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs1573711|3622|1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs1573711|3622|1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+2886C>A|||||||rs1573711||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202274G>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4W8G|enhancer||||||||||rs1573711|||||||||||||||||||||chr22:g.29202274G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_C4W8G;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=109674;gnomADv4_1_AC_joint_XX=56268;gnomADv4_1_AC_joint_XY=53406;gnomADv4_1_AF_grpmax_joint=0.874625;gnomADv4_1_AF_joint=0.720781;gnomADv4_1_AF_joint_XX=0.723462;gnomADv4_1_AF_joint_XY=0.717977;gnomADv4_1_AN_grpmax_joint=67996;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=42720;gnomADv4_1_nhomalt_joint_XX=22021;gnomADv4_1_nhomalt_joint_XY=20699;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29202433 chr22_29202433_C_T C T 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.318;CADD_Rawscore=-0.307413;CSQ=T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs132361|3463|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs132361|3479|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs132361|3479|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs132361|3473|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs132361|3490|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs132361|3526|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs132361|3463|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs132361|3463|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs132361|3463|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs132361|3463|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs132361|3463|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs132361|3463|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs132361|3463|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs132361|3463|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs132361|3463|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs132361|3463|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs132361|3463|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs132361|3463|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs132361|3463|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs132361|3463|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs132361|3463|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs132361|3463|1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs132361|3463|1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+2727G>A|||||||rs132361||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202433C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4W8G|enhancer||||||||||rs132361|||||||||||||||||||||chr22:g.29202433C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_C4W8G;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=109801;gnomADv4_1_AC_joint_XX=56305;gnomADv4_1_AC_joint_XY=53496;gnomADv4_1_AF_grpmax_joint=0.874662;gnomADv4_1_AF_joint=0.721426;gnomADv4_1_AF_joint_XX=0.724124;gnomADv4_1_AF_joint_XY=0.718607;gnomADv4_1_AN_grpmax_joint=68024;gnomADv4_1_AN_joint=152200;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=42770;gnomADv4_1_nhomalt_joint_XX=22034;gnomADv4_1_nhomalt_joint_XY=20736;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29202889 chr22_29202889_G_A G A 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=6.363;CADD_Rawscore=0.590395;CSQ=A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs132362|3007|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs132362|3023|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs132362|3023|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs132362|3017|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs132362|3034|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs132362|3070|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs132362|3007|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs132362|3007|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs132362|3007|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs132362|3007|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs132362|3007|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs132362|3007|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs132362|3007|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs132362|3007|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs132362|3007|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs132362|3007|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs132362|3007|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs132362|3007|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs132362|3007|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs132362|3007|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs132362|3007|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs132362|3007|1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs132362|3007|1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+2271C>T|||||||rs132362||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29202889G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4W8G|enhancer||||||||||rs132362|||||||||||||||||||||chr22:g.29202889G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_C4W8G;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111793;gnomADv4_1_AC_joint_XX=57385;gnomADv4_1_AC_joint_XY=54408;gnomADv4_1_AF_grpmax_joint=0.874982;gnomADv4_1_AF_joint=0.734533;gnomADv4_1_AF_joint_XX=0.73771;gnomADv4_1_AF_joint_XY=0.731212;gnomADv4_1_AN_grpmax_joint=68014;gnomADv4_1_AN_joint=152196;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=43646;gnomADv4_1_nhomalt_joint_XX=22505;gnomADv4_1_nhomalt_joint_XY=21141;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29202981 chr22_29202981_C_G C G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=16.06;CADD_Rawscore=1.85332;CSQ=G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs132363|2915|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs132363|2931|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs132363|2931|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs132363|2925|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs132363|2942|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs132363|2978|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs132363|2915|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs132363|2915|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs132363|2915|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs132363|2915|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs132363|2915|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs132363|2915|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs132363|2915|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs132363|2915|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs132363|2915|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs132363|2915|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs132363|2915|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs132363|2915|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs132363|2915|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs132363|2915|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs132363|2915|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs132363|2915|1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs132363|2915|1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+2179G>C|||||||rs132363||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29202981C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4W8G|enhancer||||||||||rs132363|||||||||||||||||||||chr22:g.29202981C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_C4W8G;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=134152;gnomADv4_1_AC_joint_XX=68783;gnomADv4_1_AC_joint_XY=65369;gnomADv4_1_AF_grpmax_joint=0.935173;gnomADv4_1_AF_joint=0.880979;gnomADv4_1_AF_joint_XX=0.884055;gnomADv4_1_AF_joint_XY=0.877766;gnomADv4_1_AN_grpmax_joint=68012;gnomADv4_1_AN_joint=152276;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=59648;gnomADv4_1_nhomalt_joint_XX=30670;gnomADv4_1_nhomalt_joint_XY=28978;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29203100 chr22_29203100_A_G A G 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=15.92;CADD_Rawscore=1.82568;CSQ=G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs132364|2796|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs132364|2812|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs132364|2812|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs132364|2806|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs132364|2823|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs132364|2859|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs132364|2796|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs132364|2796|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs132364|2796|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs132364|2796|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs132364|2796|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs132364|2796|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs132364|2796|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs132364|2796|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs132364|2796|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs132364|2796|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs132364|2796|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs132364|2796|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs132364|2796|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs132364|2796|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs132364|2796|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs132364|2796|1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs132364|2796|1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+2060T>C|||||||rs132364||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29203100A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4W8G|enhancer||||||||||rs132364|||||||||||||||||||||chr22:g.29203100A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_C4W8G;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111709;gnomADv4_1_AC_joint_XX=57365;gnomADv4_1_AC_joint_XY=54344;gnomADv4_1_AF_grpmax_joint=0.874684;gnomADv4_1_AF_joint=0.734425;gnomADv4_1_AF_joint_XX=0.73751;gnomADv4_1_AF_joint_XY=0.731197;gnomADv4_1_AN_grpmax_joint=67996;gnomADv4_1_AN_joint=152104;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=43612;gnomADv4_1_nhomalt_joint_XX=22495;gnomADv4_1_nhomalt_joint_XY=21117;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29203497 chr22_29203497_G_C G C 44 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.238;CADD_Rawscore=-0.381999;CSQ=C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs132365|2399|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs132365|2415|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs132365|2415|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs132365|2409|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs132365|2426|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs132365|2462|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs132365|2399|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs132365|2399|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs132365|2399|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs132365|2399|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs132365|2399|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs132365|2399|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs132365|2399|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs132365|2399|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs132365|2399|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs132365|2399|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs132365|2399|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs132365|2399|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs132365|2399|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs132365|2399|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs132365|2399|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs132365|2399|1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs132365|2399|1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+1663C>G|||||||rs132365||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29203497G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=146501;gnomADv4_1_AC_joint_XX=75525;gnomADv4_1_AC_joint_XY=70976;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.993739;gnomADv4_1_AF_joint_XX=0.993907;gnomADv4_1_AF_joint_XY=0.993561;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=147424;gnomADv4_1_AN_joint_XX=75988;gnomADv4_1_AN_joint_XY=71436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=72793;gnomADv4_1_nhomalt_joint_XX=37534;gnomADv4_1_nhomalt_joint_XY=35259;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29203542 chr22_29203542_C_CAAA C CAAA 17 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=17;CADDIndel_PHREDscore=0.423;CADDIndel_Rawscore=-0.235262;CSQ=AAA|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs386395169|2353|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs386395169|2369|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs386395169|2369|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs386395169|2363|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs386395169|2380|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs386395169|2416|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs386395169|2353|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs386395169|2353|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs386395169|2353|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs386395169|2353|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs386395169|2353|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs386395169|2353|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs386395169|2353|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs386395169|2353|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs386395169|2353|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs386395169|2353|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs386395169|2353|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs386395169|2353|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs386395169|2353|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs386395169|2353|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs386395169|2353|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs386395169|2353|1||EntrezGene|HGNC:18036|||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs386395169|2353|1||EntrezGene|HGNC:18036|||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+1615_524+1617dup|||||||rs386395169||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29203565_29203567dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23891;gnomADv4_1_AC_joint_XX=13926;gnomADv4_1_AC_joint_XY=9965;gnomADv4_1_AF_grpmax_joint=0.705332;gnomADv4_1_AF_joint=0.606155;gnomADv4_1_AF_joint_XX=0.614346;gnomADv4_1_AF_joint_XY=0.595067;gnomADv4_1_AN_grpmax_joint=24458;gnomADv4_1_AN_joint=39414;gnomADv4_1_AN_joint_XX=22668;gnomADv4_1_AN_joint_XY=16746;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9128;gnomADv4_1_nhomalt_joint_XX=5360;gnomADv4_1_nhomalt_joint_XY=3768;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29203703 chr22_29203703_T_C T C 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.393;CADD_Rawscore=-0.253576;CSQ=C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs73399041|2193|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs73399041|2209|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs73399041|2209|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs73399041|2203|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs73399041|2220|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs73399041|2256|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs73399041|2193|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs73399041|2193|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs73399041|2193|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs73399041|2193|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs73399041|2193|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs73399041|2193|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs73399041|2193|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs73399041|2193|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs73399041|2193|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs73399041|2193|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs73399041|2193|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs73399041|2193|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs73399041|2193|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs73399041|2193|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs73399041|2193|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs73399041|2193|1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs73399041|2193|1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+1457A>G|||||||rs73399041||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203703T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7RH5|enhancer||||||||||rs73399041|||||||||||||||||||||chr22:g.29203703T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_B7RH5;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3496;gnomADv4_1_AC_joint_XX=1880;gnomADv4_1_AC_joint_XY=1616;gnomADv4_1_AF_grpmax_joint=0.0806725;gnomADv4_1_AF_joint=0.0230203;gnomADv4_1_AF_joint_XX=0.0242062;gnomADv4_1_AF_joint_XY=0.021779;gnomADv4_1_AN_grpmax_joint=41340;gnomADv4_1_AN_joint=151866;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=74200;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=136;gnomADv4_1_nhomalt_joint_XX=71;gnomADv4_1_nhomalt_joint_XY=65;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29203995 chr22_29203995_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.017;CADD_Rawscore=-1.10419;CSQ=C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs132366|1901|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs132366|1917|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs132366|1917|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs132366|1911|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs132366|1928|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs132366|1964|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs132366|1901|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs132366|1901|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs132366|1901|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs132366|1901|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs132366|1901|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs132366|1901|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs132366|1901|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs132366|1901|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs132366|1901|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs132366|1901|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs132366|1901|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs132366|1901|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs132366|1901|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs132366|1901|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs132366|1901|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs132366|1901|1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs132366|1901|1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+1165A>G|||||||rs132366||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29203995T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7RH5|enhancer||||||||||rs132366|||||||||||||||||||||chr22:g.29203995T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_B7RH5;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=134142;gnomADv4_1_AC_joint_XX=68795;gnomADv4_1_AC_joint_XY=65347;gnomADv4_1_AF_grpmax_joint=0.935373;gnomADv4_1_AF_joint=0.882583;gnomADv4_1_AF_joint_XX=0.885552;gnomADv4_1_AF_joint_XY=0.879478;gnomADv4_1_AN_grpmax_joint=67990;gnomADv4_1_AN_joint=151988;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=59675;gnomADv4_1_nhomalt_joint_XX=30690;gnomADv4_1_nhomalt_joint_XY=28985;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29204151 chr22_29204151_G_A G A 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.105;CADD_Rawscore=-0.599168;CSQ=A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs73399043|1745|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs73399043|1761|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs73399043|1761|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs73399043|1755|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs73399043|1772|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs73399043|1808|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs73399043|1745|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs73399043|1745|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs73399043|1745|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs73399043|1745|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs73399043|1745|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs73399043|1745|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs73399043|1745|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs73399043|1745|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs73399043|1745|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs73399043|1745|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs73399043|1745|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs73399043|1745|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs73399043|1745|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs73399043|1745|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs73399043|1745|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||2/5|XR_001755475.2:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||2/5|XR_001755476.2:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||2/5|XR_001755477.2:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||2/4|XR_001755478.2:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||2/4|XR_007068045.1:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||2/5|XR_007068046.1:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||2/5|XR_007068047.1:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||2/3|XR_007068048.1:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||2/5|XR_007068049.1:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||2/4|XR_007068050.1:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||2/4|XR_007068051.1:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||2/3|XR_007068052.1:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||2/3|XR_007068053.1:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||2/4|XR_007068054.1:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||2/3|XR_007068055.1:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||2/4|XR_007068056.1:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||2/4|XR_007068057.1:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||2/4|XR_244419.5:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||2/3|XR_430435.4:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||2/3|XR_430436.4:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs73399043|1745|1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs73399043|1745|1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||2/4|XR_938130.3:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||2/4|XR_938131.3:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||2/4|XR_938132.3:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||2/4|XR_938134.3:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||2/3|XR_938136.3:n.524+1009C>T|||||||rs73399043||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29204151G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7RH5|enhancer||||||||||rs73399043|||||||||||||||||||||chr22:g.29204151G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_B7RH5;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1540;gnomADv4_1_AC_joint_XX=826;gnomADv4_1_AC_joint_XY=714;gnomADv4_1_AF_grpmax_joint=0.0351672;gnomADv4_1_AF_joint=0.0101169;gnomADv4_1_AF_joint_XX=0.0106178;gnomADv4_1_AF_joint_XY=0.00959342;gnomADv4_1_AN_grpmax_joint=41516;gnomADv4_1_AN_joint=152220;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23;gnomADv4_1_nhomalt_joint_XX=10;gnomADv4_1_nhomalt_joint_XY=13;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29205215 chr22_29205215_T_A T A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=7.284;CADD_Rawscore=0.689115;CSQ=A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs132367|681|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs132367|697|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs132367|697|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs132367|691|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs132367|708|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs132367|744|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs132367|681|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs132367|681|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs132367|681|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs132367|681|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs132367|681|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs132367|681|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs132367|681|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs132367|681|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs132367|681|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs132367|681|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs132367|681|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs132367|681|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs132367|681|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs132367|681|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs132367|681|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA|2/6||XR_001755475.2:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA|2/6||XR_001755476.2:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA|2/6||XR_001755477.2:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA|2/5||XR_001755478.2:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA|2/5||XR_007068045.1:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA|2/6||XR_007068046.1:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA|2/6||XR_007068047.1:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA|2/4||XR_007068048.1:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA|2/6||XR_007068049.1:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA|2/5||XR_007068050.1:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA|2/5||XR_007068051.1:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA|2/4||XR_007068052.1:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA|2/4||XR_007068053.1:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA|2/5||XR_007068054.1:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA|2/4||XR_007068055.1:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA|2/5||XR_007068056.1:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA|2/5||XR_007068057.1:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA|2/5||XR_244419.5:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA|2/4||XR_430435.4:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA|2/4||XR_430436.4:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs132367|681|1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs132367|681|1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA|2/5||XR_938130.3:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA|2/5||XR_938131.3:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA|2/5||XR_938132.3:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA|2/5||XR_938134.3:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA|2/4||XR_938136.3:n.469A>T||469|||||rs132367||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29205215T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=134184;gnomADv4_1_AC_joint_XX=68814;gnomADv4_1_AC_joint_XY=65370;gnomADv4_1_AF_grpmax_joint=0.935004;gnomADv4_1_AF_joint=0.881502;gnomADv4_1_AF_joint_XX=0.884544;gnomADv4_1_AF_joint_XY=0.878322;gnomADv4_1_AN_grpmax_joint=68020;gnomADv4_1_AN_joint=152222;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=59680;gnomADv4_1_nhomalt_joint_XX=30695;gnomADv4_1_nhomalt_joint_XY=28985;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29206982 chr22_29206982_G_A G A 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=5.642;CADD_Rawscore=0.517517;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.101+843G>A|||||||rs132368||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.101+843G>A|||||||rs132368||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.101+843G>A|||||||rs132368||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.101+843G>A|||||||rs132368||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.101+843G>A|||||||rs132368||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+843G>A|||||||rs132368||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.101+843G>A|||||||rs132368||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.101+843G>A|||||||rs132368||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.101+843G>A|||||||rs132368||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.101+843G>A|||||||rs132368||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.101+843G>A|||||||rs132368||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.101+843G>A|||||||rs132368||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.101+843G>A|||||||rs132368||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.101+843G>A|||||||rs132368||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.101+843G>A|||||||rs132368||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.101+843G>A|||||||rs132368||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.101+843G>A|||||||rs132368||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.101+843G>A|||||||rs132368||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.101+843G>A|||||||rs132368||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.101+843G>A|||||||rs132368||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.101+843G>A|||||||rs132368||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.244+843G>A|||||||rs132368||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.244+843G>A|||||||rs132368||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs132368|1150|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29206982G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|-7|-43|-7|46;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81364;gnomADv4_1_AC_joint_XX=41730;gnomADv4_1_AC_joint_XY=39634;gnomADv4_1_AF_grpmax_joint=0.704905;gnomADv4_1_AF_joint=0.53472;gnomADv4_1_AF_joint_XX=0.536513;gnomADv4_1_AF_joint_XY=0.532844;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=26307;gnomADv4_1_nhomalt_joint_XX=13635;gnomADv4_1_nhomalt_joint_XY=12672;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29207266 chr22_29207266_G_A G A 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=6.259;CADD_Rawscore=0.579609;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.101+1127G>A|||||||rs59016854||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.101+1127G>A|||||||rs59016854||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.101+1127G>A|||||||rs59016854||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.101+1127G>A|||||||rs59016854||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.101+1127G>A|||||||rs59016854||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+1127G>A|||||||rs59016854||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.101+1127G>A|||||||rs59016854||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.101+1127G>A|||||||rs59016854||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.101+1127G>A|||||||rs59016854||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.101+1127G>A|||||||rs59016854||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.101+1127G>A|||||||rs59016854||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.101+1127G>A|||||||rs59016854||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.101+1127G>A|||||||rs59016854||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.101+1127G>A|||||||rs59016854||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.101+1127G>A|||||||rs59016854||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.101+1127G>A|||||||rs59016854||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.101+1127G>A|||||||rs59016854||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.101+1127G>A|||||||rs59016854||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.101+1127G>A|||||||rs59016854||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.101+1127G>A|||||||rs59016854||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.101+1127G>A|||||||rs59016854||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.244+1127G>A|||||||rs59016854||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.244+1127G>A|||||||rs59016854||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs59016854|1434|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207266G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|2|34|34|39;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1537;gnomADv4_1_AC_joint_XX=826;gnomADv4_1_AC_joint_XY=711;gnomADv4_1_AF_grpmax_joint=0.0350063;gnomADv4_1_AF_joint=0.0100907;gnomADv4_1_AF_joint_XX=0.0106107;gnomADv4_1_AF_joint_XY=0.00954721;gnomADv4_1_AN_grpmax_joint=41564;gnomADv4_1_AN_joint=152318;gnomADv4_1_AN_joint_XX=77846;gnomADv4_1_AN_joint_XY=74472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23;gnomADv4_1_nhomalt_joint_XX=10;gnomADv4_1_nhomalt_joint_XY=13;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29207622 chr22_29207622_A_G A G 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.687;CADD_Rawscore=0.243473;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.101+1483A>G|||||||rs132369||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.101+1483A>G|||||||rs132369||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.101+1483A>G|||||||rs132369||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.101+1483A>G|||||||rs132369||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.101+1483A>G|||||||rs132369||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+1483A>G|||||||rs132369||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.101+1483A>G|||||||rs132369||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.101+1483A>G|||||||rs132369||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.101+1483A>G|||||||rs132369||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.101+1483A>G|||||||rs132369||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.101+1483A>G|||||||rs132369||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.101+1483A>G|||||||rs132369||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.101+1483A>G|||||||rs132369||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.101+1483A>G|||||||rs132369||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.101+1483A>G|||||||rs132369||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.101+1483A>G|||||||rs132369||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.101+1483A>G|||||||rs132369||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.101+1483A>G|||||||rs132369||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.101+1483A>G|||||||rs132369||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.101+1483A>G|||||||rs132369||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.101+1483A>G|||||||rs132369||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.244+1483A>G|||||||rs132369||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.244+1483A>G|||||||rs132369||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs132369|1790|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29207622A>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|21|22|2|21;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=115944;gnomADv4_1_AC_joint_XX=59587;gnomADv4_1_AC_joint_XY=56357;gnomADv4_1_AF_grpmax_joint=0.875188;gnomADv4_1_AF_joint=0.762258;gnomADv4_1_AF_joint_XX=0.766313;gnomADv4_1_AF_joint_XY=0.758016;gnomADv4_1_AN_grpmax_joint=67982;gnomADv4_1_AN_joint=152106;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=45794;gnomADv4_1_nhomalt_joint_XX=23683;gnomADv4_1_nhomalt_joint_XY=22111;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29207807 chr22_29207807_G_A G A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.229;CADD_Rawscore=0.192776;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.101+1668G>A|||||||rs132370||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.101+1668G>A|||||||rs132370||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.101+1668G>A|||||||rs132370||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.101+1668G>A|||||||rs132370||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.101+1668G>A|||||||rs132370||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+1668G>A|||||||rs132370||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.101+1668G>A|||||||rs132370||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.101+1668G>A|||||||rs132370||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.101+1668G>A|||||||rs132370||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.101+1668G>A|||||||rs132370||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.101+1668G>A|||||||rs132370||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.101+1668G>A|||||||rs132370||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.101+1668G>A|||||||rs132370||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.101+1668G>A|||||||rs132370||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.101+1668G>A|||||||rs132370||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.101+1668G>A|||||||rs132370||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.101+1668G>A|||||||rs132370||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.101+1668G>A|||||||rs132370||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.101+1668G>A|||||||rs132370||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.101+1668G>A|||||||rs132370||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.101+1668G>A|||||||rs132370||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.244+1668G>A|||||||rs132370||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.244+1668G>A|||||||rs132370||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs132370|1975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29207807G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|32|-45|-4|35;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=143152;gnomADv4_1_AC_joint_XX=73436;gnomADv4_1_AC_joint_XY=69716;gnomADv4_1_AF_grpmax_joint=0.96387;gnomADv4_1_AF_joint=0.939848;gnomADv4_1_AF_joint_XX=0.943422;gnomADv4_1_AF_joint_XY=0.936112;gnomADv4_1_AN_grpmax_joint=41572;gnomADv4_1_AN_joint=152314;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74474;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=67483;gnomADv4_1_nhomalt_joint_XX=34726;gnomADv4_1_nhomalt_joint_XY=32757;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29208141 chr22_29208141_A_G A G 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=9.833;CADD_Rawscore=0.956659;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.101+2002A>G|||||||rs916341||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.101+2002A>G|||||||rs916341||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.101+2002A>G|||||||rs916341||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.101+2002A>G|||||||rs916341||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.101+2002A>G|||||||rs916341||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+2002A>G|||||||rs916341||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.101+2002A>G|||||||rs916341||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.101+2002A>G|||||||rs916341||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.101+2002A>G|||||||rs916341||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.101+2002A>G|||||||rs916341||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.101+2002A>G|||||||rs916341||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.101+2002A>G|||||||rs916341||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.101+2002A>G|||||||rs916341||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.101+2002A>G|||||||rs916341||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.101+2002A>G|||||||rs916341||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.101+2002A>G|||||||rs916341||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.101+2002A>G|||||||rs916341||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.101+2002A>G|||||||rs916341||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.101+2002A>G|||||||rs916341||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.101+2002A>G|||||||rs916341||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.101+2002A>G|||||||rs916341||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.244+2002A>G|||||||rs916341||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.244+2002A>G|||||||rs916341||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs916341|2309|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29208141A>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|0|41|47|-39;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22426;gnomADv4_1_AC_joint_XX=11454;gnomADv4_1_AC_joint_XY=10972;gnomADv4_1_AF_grpmax_joint=0.335415;gnomADv4_1_AF_joint=0.147404;gnomADv4_1_AF_joint_XX=0.147299;gnomADv4_1_AF_joint_XY=0.147513;gnomADv4_1_AN_grpmax_joint=41468;gnomADv4_1_AN_joint=152140;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2828;gnomADv4_1_nhomalt_joint_XX=1474;gnomADv4_1_nhomalt_joint_XY=1354;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29208158 chr22_29208158_C_G C G 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=11.51;CADD_Rawscore=1.11464;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.101+2019C>G|||||||rs73399048||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.101+2019C>G|||||||rs73399048||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.101+2019C>G|||||||rs73399048||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.101+2019C>G|||||||rs73399048||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.101+2019C>G|||||||rs73399048||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+2019C>G|||||||rs73399048||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.101+2019C>G|||||||rs73399048||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.101+2019C>G|||||||rs73399048||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.101+2019C>G|||||||rs73399048||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.101+2019C>G|||||||rs73399048||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.101+2019C>G|||||||rs73399048||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.101+2019C>G|||||||rs73399048||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.101+2019C>G|||||||rs73399048||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.101+2019C>G|||||||rs73399048||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.101+2019C>G|||||||rs73399048||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.101+2019C>G|||||||rs73399048||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.101+2019C>G|||||||rs73399048||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.101+2019C>G|||||||rs73399048||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.101+2019C>G|||||||rs73399048||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.101+2019C>G|||||||rs73399048||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.101+2019C>G|||||||rs73399048||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.244+2019C>G|||||||rs73399048||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.244+2019C>G|||||||rs73399048||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs73399048|2326|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29208158C>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|-17|24|42|-30;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1565;gnomADv4_1_AC_joint_XX=841;gnomADv4_1_AC_joint_XY=724;gnomADv4_1_AF_grpmax_joint=0.0356679;gnomADv4_1_AF_joint=0.010277;gnomADv4_1_AF_joint_XX=0.0108084;gnomADv4_1_AF_joint_XY=0.00972177;gnomADv4_1_AN_grpmax_joint=41550;gnomADv4_1_AN_joint=152282;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25;gnomADv4_1_nhomalt_joint_XX=12;gnomADv4_1_nhomalt_joint_XY=13;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29208286 chr22_29208286_G_C G C 51 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=15.8;CADD_Rawscore=1.80062;CSQ=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.101+2147G>C|||||||rs132371||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.101+2147G>C|||||||rs132371||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.101+2147G>C|||||||rs132371||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.101+2147G>C|||||||rs132371||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.101+2147G>C|||||||rs132371||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+2147G>C|||||||rs132371||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.101+2147G>C|||||||rs132371||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.101+2147G>C|||||||rs132371||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.101+2147G>C|||||||rs132371||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.101+2147G>C|||||||rs132371||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.101+2147G>C|||||||rs132371||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.101+2147G>C|||||||rs132371||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.101+2147G>C|||||||rs132371||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.101+2147G>C|||||||rs132371||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.101+2147G>C|||||||rs132371||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.101+2147G>C|||||||rs132371||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.101+2147G>C|||||||rs132371||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.101+2147G>C|||||||rs132371||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.101+2147G>C|||||||rs132371||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.101+2147G>C|||||||rs132371||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.101+2147G>C|||||||rs132371||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.244+2147G>C|||||||rs132371||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.244+2147G>C|||||||rs132371||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs132371|2454|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208286G>C|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|6|50|-6|-8;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=108959;gnomADv4_1_AC_joint_XX=55933;gnomADv4_1_AC_joint_XY=53026;gnomADv4_1_AF_grpmax_joint=0.874213;gnomADv4_1_AF_joint=0.716355;gnomADv4_1_AF_joint_XX=0.719581;gnomADv4_1_AF_joint_XY=0.712983;gnomADv4_1_AN_grpmax_joint=67972;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=42242;gnomADv4_1_nhomalt_joint_XX=21801;gnomADv4_1_nhomalt_joint_XY=20441;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29208572 chr22_29208572_G_A G A 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=9.552;CADD_Rawscore=0.929652;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.101+2433G>A|||||||rs132372||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.101+2433G>A|||||||rs132372||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.101+2433G>A|||||||rs132372||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.101+2433G>A|||||||rs132372||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.101+2433G>A|||||||rs132372||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+2433G>A|||||||rs132372||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.101+2433G>A|||||||rs132372||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.101+2433G>A|||||||rs132372||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.101+2433G>A|||||||rs132372||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.101+2433G>A|||||||rs132372||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.101+2433G>A|||||||rs132372||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.101+2433G>A|||||||rs132372||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.101+2433G>A|||||||rs132372||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.101+2433G>A|||||||rs132372||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.101+2433G>A|||||||rs132372||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.101+2433G>A|||||||rs132372||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.101+2433G>A|||||||rs132372||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.101+2433G>A|||||||rs132372||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.101+2433G>A|||||||rs132372||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.101+2433G>A|||||||rs132372||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.101+2433G>A|||||||rs132372||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.244+2433G>A|||||||rs132372||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.244+2433G>A|||||||rs132372||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs132372|2740|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29208572G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7RHS|enhancer||||||||||rs132372|||||||||||||||||||||chr22:g.29208572G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|-34|39|-7|-2;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_B7RHS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=110974;gnomADv4_1_AC_joint_XX=57019;gnomADv4_1_AC_joint_XY=53955;gnomADv4_1_AF_grpmax_joint=0.874386;gnomADv4_1_AF_joint=0.729392;gnomADv4_1_AF_joint_XX=0.733194;gnomADv4_1_AF_joint_XY=0.725416;gnomADv4_1_AN_grpmax_joint=67978;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=43119;gnomADv4_1_nhomalt_joint_XX=22280;gnomADv4_1_nhomalt_joint_XY=20839;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29208798 chr22_29208798_T_C T C 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.147;CADD_Rawscore=-0.508977;CSQ=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.101+2659T>C|||||||rs132373||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.101+2659T>C|||||||rs132373||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.101+2659T>C|||||||rs132373||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.101+2659T>C|||||||rs132373||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.101+2659T>C|||||||rs132373||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+2659T>C|||||||rs132373||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.101+2659T>C|||||||rs132373||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.101+2659T>C|||||||rs132373||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.101+2659T>C|||||||rs132373||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.101+2659T>C|||||||rs132373||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.101+2659T>C|||||||rs132373||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.101+2659T>C|||||||rs132373||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.101+2659T>C|||||||rs132373||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.101+2659T>C|||||||rs132373||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.101+2659T>C|||||||rs132373||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.101+2659T>C|||||||rs132373||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.101+2659T>C|||||||rs132373||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.101+2659T>C|||||||rs132373||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.101+2659T>C|||||||rs132373||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.101+2659T>C|||||||rs132373||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.101+2659T>C|||||||rs132373||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.244+2659T>C|||||||rs132373||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.244+2659T>C|||||||rs132373||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs132373|2966|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29208798T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7RHS|enhancer||||||||||rs132373|||||||||||||||||||||chr22:g.29208798T>C|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|-50|-19|-48|5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3,ENSR22_B7RHS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=133553;gnomADv4_1_AC_joint_XX=68545;gnomADv4_1_AC_joint_XY=65008;gnomADv4_1_AF_grpmax_joint=0.934839;gnomADv4_1_AF_joint=0.876977;gnomADv4_1_AF_joint_XX=0.880634;gnomADv4_1_AF_joint_XY=0.873153;gnomADv4_1_AN_grpmax_joint=68016;gnomADv4_1_AN_joint=152288;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=59171;gnomADv4_1_nhomalt_joint_XX=30469;gnomADv4_1_nhomalt_joint_XY=28702;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29209484 chr22_29209484_TGGGTCCCTTCATCTGTGGAAACCTC_T TGGGTCCCTTCATCTGTGGAAACCTC T 26 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=26;CADDIndel_PHREDscore=6.462;CADDIndel_Rawscore=0.600713;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.101+3353_101+3377del|||||||rs887117868||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.101+3353_101+3377del|||||||rs887117868||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.101+3353_101+3377del|||||||rs887117868||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.101+3353_101+3377del|||||||rs887117868||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.101+3353_101+3377del|||||||rs887117868||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+3353_101+3377del|||||||rs887117868||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.101+3353_101+3377del|||||||rs887117868||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.101+3353_101+3377del|||||||rs887117868||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.101+3353_101+3377del|||||||rs887117868||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.101+3353_101+3377del|||||||rs887117868||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.101+3353_101+3377del|||||||rs887117868||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.101+3353_101+3377del|||||||rs887117868||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.101+3353_101+3377del|||||||rs887117868||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.101+3353_101+3377del|||||||rs887117868||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.101+3353_101+3377del|||||||rs887117868||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.101+3353_101+3377del|||||||rs887117868||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.101+3353_101+3377del|||||||rs887117868||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.101+3353_101+3377del|||||||rs887117868||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.101+3353_101+3377del|||||||rs887117868||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.101+3353_101+3377del|||||||rs887117868||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.101+3353_101+3377del|||||||rs887117868||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.244+3353_244+3377del|||||||rs887117868||1||EntrezGene|HGNC:18036|||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.244+3353_244+3377del|||||||rs887117868||1||EntrezGene|HGNC:18036|||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC|||7|chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs887117868|3653|-1||EntrezGene||||||||||RefSeq||GGGTCCCTTCATCTGTGGAAACCTC|GGGTCCCTTCATCTGTGGAAACCTC||||chr22:g.29209492_29209516del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=156;gnomADv4_1_AC_joint_XX=77;gnomADv4_1_AC_joint_XY=79;gnomADv4_1_AF_grpmax_joint=0.000558807;gnomADv4_1_AF_joint=0.0010246;gnomADv4_1_AF_joint_XX=0.000989437;gnomADv4_1_AF_joint_XY=0.00106137;gnomADv4_1_AN_grpmax_joint=68002;gnomADv4_1_AN_joint=152254;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29210250 chr22_29210250_AT_A AT A 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=0.289;CADDIndel_Rawscore=-0.331459;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.101+4131del|||||||rs132374||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.101+4131del|||||||rs132374||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.101+4131del|||||||rs132374||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.101+4131del|||||||rs132374||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.101+4131del|||||||rs132374||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+4131del|||||||rs132374||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.101+4131del|||||||rs132374||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.101+4131del|||||||rs132374||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.101+4131del|||||||rs132374||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.101+4131del|||||||rs132374||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.101+4131del|||||||rs132374||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.101+4131del|||||||rs132374||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.101+4131del|||||||rs132374||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.101+4131del|||||||rs132374||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.101+4131del|||||||rs132374||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.101+4131del|||||||rs132374||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.101+4131del|||||||rs132374||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.101+4131del|||||||rs132374||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.101+4131del|||||||rs132374||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.101+4131del|||||||rs132374||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.101+4131del|||||||rs132374||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T|||19|chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755475.2|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755476.2|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755477.2|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_001755478.2|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068045.1|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068046.1|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068047.1|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068048.1|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068049.1|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068050.1|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068051.1|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068052.1|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068053.1|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068054.1|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068055.1|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068056.1|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_007068057.1|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_244419.5|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430435.4|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_430436.4|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.244+4131del|||||||rs132374||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T|||19|chr22:g.29210270del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.244+4131del|||||||rs132374||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T|||19|chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938130.3|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938131.3|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938132.3|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938134.3|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC101929638|101929638|Transcript|XR_938136.3|lncRNA||||||||||rs132374|4419|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29210270del|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|24|22|23|22;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755475.2,XR_001755476.2,XR_001755477.2,XR_001755478.2,XR_007068045.1,XR_007068046.1,XR_007068047.1,XR_007068048.1,XR_007068049.1,XR_007068050.1,XR_007068051.1,XR_007068052.1,XR_007068053.1,XR_007068054.1,XR_007068055.1,XR_007068056.1,XR_007068057.1,XR_244419.5,XR_430435.4,XR_430436.4,XR_937808.4,XR_937810.4,XR_938130.3,XR_938131.3,XR_938132.3,XR_938134.3,XR_938136.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,101929638,129080,129080,101929638,101929638,101929638,101929638,101929638;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638,EMID1,EMID1,LOC101929638,LOC101929638,LOC101929638,LOC101929638,LOC101929638;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=99710;gnomADv4_1_AC_joint_XX=52632;gnomADv4_1_AC_joint_XY=47078;gnomADv4_1_AF_grpmax_joint=0.875085;gnomADv4_1_AF_joint=0.785724;gnomADv4_1_AF_joint_XX=0.790793;gnomADv4_1_AF_joint_XY=0.780135;gnomADv4_1_AN_grpmax_joint=58928;gnomADv4_1_AN_joint=126902;gnomADv4_1_AN_joint_XX=66556;gnomADv4_1_AN_joint_XY=60346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=39907;gnomADv4_1_nhomalt_joint_XX=21192;gnomADv4_1_nhomalt_joint_XY=18715;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29210877 chr22_29210877_G_A G A 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=4.642;CADD_Rawscore=0.422763;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.102-4049G>A|||||||rs132375||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.102-4049G>A|||||||rs132375||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.102-4049G>A|||||||rs132375||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.102-4049G>A|||||||rs132375||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.102-4049G>A|||||||rs132375||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+4738G>A|||||||rs132375||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29210877G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs132375|4700|1||HGNC|HGNC:18036|5||||||||Ensembl||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.102-4049G>A|||||||rs132375||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.102-4049G>A|||||||rs132375||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.102-4049G>A|||||||rs132375||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.102-4049G>A|||||||rs132375||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.102-4049G>A|||||||rs132375||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.102-4049G>A|||||||rs132375||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.102-4049G>A|||||||rs132375||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.102-4049G>A|||||||rs132375||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.102-4049G>A|||||||rs132375||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.102-4049G>A|||||||rs132375||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs132375|4668|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.102-4049G>A|||||||rs132375||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.102-4049G>A|||||||rs132375||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.102-4049G>A|||||||rs132375||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.102-4049G>A|||||||rs132375||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.102-4049G>A|||||||rs132375||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.245-4049G>A|||||||rs132375||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.245-4049G>A|||||||rs132375||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29210877G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|12|-12|12|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84877;gnomADv4_1_AC_joint_XX=43557;gnomADv4_1_AC_joint_XY=41320;gnomADv4_1_AF_grpmax_joint=0.71146;gnomADv4_1_AF_joint=0.558762;gnomADv4_1_AF_joint_XX=0.560579;gnomADv4_1_AF_joint_XY=0.556858;gnomADv4_1_AN_grpmax_joint=15270;gnomADv4_1_AN_joint=151902;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=27326;gnomADv4_1_nhomalt_joint_XX=14155;gnomADv4_1_nhomalt_joint_XY=13171;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29211418 chr22_29211418_C_T C T 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.364;CADD_Rawscore=0.208582;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.102-3508C>T|||||||rs132376||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.102-3508C>T|||||||rs132376||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.102-3508C>T|||||||rs132376||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.102-3508C>T|||||||rs132376||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.102-3508C>T|||||||rs132376||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+5279C>T|||||||rs132376||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29211418C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs132376|4159|1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.102-3508C>T|||||||rs132376||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.102-3508C>T|||||||rs132376||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.102-3508C>T|||||||rs132376||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.102-3508C>T|||||||rs132376||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.102-3508C>T|||||||rs132376||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.102-3508C>T|||||||rs132376||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.102-3508C>T|||||||rs132376||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.102-3508C>T|||||||rs132376||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.102-3508C>T|||||||rs132376||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.102-3508C>T|||||||rs132376||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs132376|4127|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.102-3508C>T|||||||rs132376||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.102-3508C>T|||||||rs132376||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.102-3508C>T|||||||rs132376||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.102-3508C>T|||||||rs132376||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.102-3508C>T|||||||rs132376||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs132376|4909|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.245-3508C>T|||||||rs132376||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.245-3508C>T|||||||rs132376||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29211418C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|47|-15|-16|45;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=113808;gnomADv4_1_AC_joint_XX=58427;gnomADv4_1_AC_joint_XY=55381;gnomADv4_1_AF_grpmax_joint=0.874776;gnomADv4_1_AF_joint=0.748166;gnomADv4_1_AF_joint_XX=0.751357;gnomADv4_1_AF_joint_XY=0.744829;gnomADv4_1_AN_grpmax_joint=68006;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=44773;gnomADv4_1_nhomalt_joint_XX=23108;gnomADv4_1_nhomalt_joint_XY=21665;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29211480 chr22_29211480_T_A T A 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.49;CADD_Rawscore=0.086303;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.102-3446T>A|||||||rs73399052||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.102-3446T>A|||||||rs73399052||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.102-3446T>A|||||||rs73399052||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.102-3446T>A|||||||rs73399052||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.102-3446T>A|||||||rs73399052||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+5341T>A|||||||rs73399052||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||T|T||||chr22:g.29211480T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs73399052|4097|1||HGNC|HGNC:18036|5||||||||Ensembl||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.102-3446T>A|||||||rs73399052||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.102-3446T>A|||||||rs73399052||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.102-3446T>A|||||||rs73399052||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.102-3446T>A|||||||rs73399052||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.102-3446T>A|||||||rs73399052||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.102-3446T>A|||||||rs73399052||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.102-3446T>A|||||||rs73399052||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.102-3446T>A|||||||rs73399052||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.102-3446T>A|||||||rs73399052||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.102-3446T>A|||||||rs73399052||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs73399052|4065|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.102-3446T>A|||||||rs73399052||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.102-3446T>A|||||||rs73399052||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.102-3446T>A|||||||rs73399052||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.102-3446T>A|||||||rs73399052||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.102-3446T>A|||||||rs73399052||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs73399052|4847|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.245-3446T>A|||||||rs73399052||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.245-3446T>A|||||||rs73399052||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29211480T>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|17|-15|20|-17;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3612;gnomADv4_1_AC_joint_XX=1935;gnomADv4_1_AC_joint_XY=1677;gnomADv4_1_AF_grpmax_joint=0.08292;gnomADv4_1_AF_joint=0.023721;gnomADv4_1_AF_joint_XX=0.0248734;gnomADv4_1_AF_joint_XY=0.0225173;gnomADv4_1_AN_grpmax_joint=41534;gnomADv4_1_AN_joint=152270;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=145;gnomADv4_1_nhomalt_joint_XX=74;gnomADv4_1_nhomalt_joint_XY=71;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29212267 chr22_29212267_G_A G A 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.497;CADD_Rawscore=0.087674;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.102-2659G>A|||||||rs113898436||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.102-2659G>A|||||||rs113898436||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.102-2659G>A|||||||rs113898436||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.102-2659G>A|||||||rs113898436||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.102-2659G>A|||||||rs113898436||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+6128G>A|||||||rs113898436||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29212267G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs113898436|3310|1||HGNC|HGNC:18036|5||||||||Ensembl||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.102-2659G>A|||||||rs113898436||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.102-2659G>A|||||||rs113898436||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.102-2659G>A|||||||rs113898436||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.102-2659G>A|||||||rs113898436||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.102-2659G>A|||||||rs113898436||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.102-2659G>A|||||||rs113898436||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.102-2659G>A|||||||rs113898436||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.102-2659G>A|||||||rs113898436||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.102-2659G>A|||||||rs113898436||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.102-2659G>A|||||||rs113898436||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs113898436|3278|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.102-2659G>A|||||||rs113898436||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.102-2659G>A|||||||rs113898436||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.102-2659G>A|||||||rs113898436||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.102-2659G>A|||||||rs113898436||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.102-2659G>A|||||||rs113898436||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs113898436|4060|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.245-2659G>A|||||||rs113898436||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.245-2659G>A|||||||rs113898436||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29212267G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|20|-1|-45|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6572;gnomADv4_1_AC_joint_XX=3435;gnomADv4_1_AC_joint_XY=3137;gnomADv4_1_AF_grpmax_joint=0.151161;gnomADv4_1_AF_joint=0.0433172;gnomADv4_1_AF_joint_XX=0.0442712;gnomADv4_1_AF_joint_XY=0.0423187;gnomADv4_1_AN_grpmax_joint=41340;gnomADv4_1_AN_joint=151718;gnomADv4_1_AN_joint_XX=77590;gnomADv4_1_AN_joint_XY=74128;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=529;gnomADv4_1_nhomalt_joint_XX=287;gnomADv4_1_nhomalt_joint_XY=242;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29212287 chr22_29212287_C_T C T 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.836;CADD_Rawscore=-0.063912;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.102-2639C>T|||||||rs132377||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.102-2639C>T|||||||rs132377||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.102-2639C>T|||||||rs132377||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.102-2639C>T|||||||rs132377||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.102-2639C>T|||||||rs132377||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+6148C>T|||||||rs132377||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29212287C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs132377|3290|1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.102-2639C>T|||||||rs132377||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.102-2639C>T|||||||rs132377||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.102-2639C>T|||||||rs132377||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.102-2639C>T|||||||rs132377||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.102-2639C>T|||||||rs132377||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.102-2639C>T|||||||rs132377||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.102-2639C>T|||||||rs132377||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.102-2639C>T|||||||rs132377||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.102-2639C>T|||||||rs132377||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.102-2639C>T|||||||rs132377||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs132377|3258|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.102-2639C>T|||||||rs132377||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.102-2639C>T|||||||rs132377||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.102-2639C>T|||||||rs132377||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.102-2639C>T|||||||rs132377||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.102-2639C>T|||||||rs132377||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs132377|4040|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.245-2639C>T|||||||rs132377||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.245-2639C>T|||||||rs132377||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29212287C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|-21|32|-21|-23;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=133095;gnomADv4_1_AC_joint_XX=68336;gnomADv4_1_AC_joint_XY=64759;gnomADv4_1_AF_grpmax_joint=0.934434;gnomADv4_1_AF_joint=0.876594;gnomADv4_1_AF_joint_XX=0.880346;gnomADv4_1_AF_joint_XY=0.872669;gnomADv4_1_AN_grpmax_joint=67916;gnomADv4_1_AN_joint=151832;gnomADv4_1_AN_joint_XX=77624;gnomADv4_1_AN_joint_XY=74208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=58938;gnomADv4_1_nhomalt_joint_XX=30364;gnomADv4_1_nhomalt_joint_XY=28574;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29212335 chr22_29212335_G_A G A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.383;CADD_Rawscore=0.210732;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.102-2591G>A|||||||rs132378||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.102-2591G>A|||||||rs132378||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.102-2591G>A|||||||rs132378||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.102-2591G>A|||||||rs132378||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.102-2591G>A|||||||rs132378||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+6196G>A|||||||rs132378||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29212335G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs132378|3242|1||HGNC|HGNC:18036|5||||||||Ensembl||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.102-2591G>A|||||||rs132378||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.102-2591G>A|||||||rs132378||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.102-2591G>A|||||||rs132378||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.102-2591G>A|||||||rs132378||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.102-2591G>A|||||||rs132378||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.102-2591G>A|||||||rs132378||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.102-2591G>A|||||||rs132378||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.102-2591G>A|||||||rs132378||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.102-2591G>A|||||||rs132378||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.102-2591G>A|||||||rs132378||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs132378|3210|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.102-2591G>A|||||||rs132378||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.102-2591G>A|||||||rs132378||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.102-2591G>A|||||||rs132378||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.102-2591G>A|||||||rs132378||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.102-2591G>A|||||||rs132378||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs132378|3992|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.245-2591G>A|||||||rs132378||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.245-2591G>A|||||||rs132378||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29212335G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|2|-16|-27|-16;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=133146;gnomADv4_1_AC_joint_XX=68353;gnomADv4_1_AC_joint_XY=64793;gnomADv4_1_AF_grpmax_joint=0.934528;gnomADv4_1_AF_joint=0.87678;gnomADv4_1_AF_joint_XX=0.880452;gnomADv4_1_AF_joint_XY=0.872939;gnomADv4_1_AN_grpmax_joint=67922;gnomADv4_1_AN_joint=151858;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=58960;gnomADv4_1_nhomalt_joint_XX=30365;gnomADv4_1_nhomalt_joint_XY=28595;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29212650 chr22_29212650_G_A G A 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.628;CADD_Rawscore=-0.136148;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.102-2276G>A|||||||rs555620051||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.102-2276G>A|||||||rs555620051||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.102-2276G>A|||||||rs555620051||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.102-2276G>A|||||||rs555620051||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.102-2276G>A|||||||rs555620051||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+6511G>A|||||||rs555620051||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29212650G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs555620051|2927|1||HGNC|HGNC:18036|5||||||||Ensembl||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.102-2276G>A|||||||rs555620051||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.102-2276G>A|||||||rs555620051||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.102-2276G>A|||||||rs555620051||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.102-2276G>A|||||||rs555620051||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.102-2276G>A|||||||rs555620051||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.102-2276G>A|||||||rs555620051||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.102-2276G>A|||||||rs555620051||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.102-2276G>A|||||||rs555620051||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.102-2276G>A|||||||rs555620051||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.102-2276G>A|||||||rs555620051||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs555620051|2895|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.102-2276G>A|||||||rs555620051||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.102-2276G>A|||||||rs555620051||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.102-2276G>A|||||||rs555620051||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.102-2276G>A|||||||rs555620051||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.102-2276G>A|||||||rs555620051||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs555620051|3677|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.245-2276G>A|||||||rs555620051||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.245-2276G>A|||||||rs555620051||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29212650G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|9|-41|-28|-41;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13;gnomADv4_1_AC_joint_XX=8;gnomADv4_1_AC_joint_XY=5;gnomADv4_1_AF_grpmax_joint=0.000639932;gnomADv4_1_AF_joint=8.61909e-05;gnomADv4_1_AF_joint_XX=0.000103544;gnomADv4_1_AF_joint_XY=6.79662e-05;gnomADv4_1_AN_grpmax_joint=4688;gnomADv4_1_AN_joint=150828;gnomADv4_1_AN_joint_XX=77262;gnomADv4_1_AN_joint_XY=73566;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29214037 chr22_29214037_C_T C T 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADD_PHREDscore=1.209;CADD_Rawscore=0.031508;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.102-889C>T|||||||rs73399056||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.102-889C>T|||||||rs73399056||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.102-889C>T|||||||rs73399056||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.102-889C>T|||||||rs73399056||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.102-889C>T|||||||rs73399056||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+7898C>T|||||||rs73399056||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29214037C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs73399056|1540|1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.102-889C>T|||||||rs73399056||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.102-889C>T|||||||rs73399056||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.102-889C>T|||||||rs73399056||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.102-889C>T|||||||rs73399056||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.102-889C>T|||||||rs73399056||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.102-889C>T|||||||rs73399056||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.102-889C>T|||||||rs73399056||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.102-889C>T|||||||rs73399056||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.102-889C>T|||||||rs73399056||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.102-889C>T|||||||rs73399056||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs73399056|1508|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.102-889C>T|||||||rs73399056||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.102-889C>T|||||||rs73399056||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.102-889C>T|||||||rs73399056||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.102-889C>T|||||||rs73399056||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.102-889C>T|||||||rs73399056||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs73399056|2290|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.245-889C>T|||||||rs73399056||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.245-889C>T|||||||rs73399056||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29214037C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|-42|33|-42|-5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1461;gnomADv4_1_AC_joint_XX=780;gnomADv4_1_AC_joint_XY=681;gnomADv4_1_AF_grpmax_joint=0.0332531;gnomADv4_1_AF_joint=0.00959266;gnomADv4_1_AF_joint_XX=0.0100229;gnomADv4_1_AF_joint_XY=0.00914315;gnomADv4_1_AN_grpmax_joint=41560;gnomADv4_1_AN_joint=152304;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74482;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24;gnomADv4_1_nhomalt_joint_XX=11;gnomADv4_1_nhomalt_joint_XY=13;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29214149 chr22_29214149_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.052;CADD_Rawscore=-0.790365;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.102-777A>G|||||||rs132379||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.102-777A>G|||||||rs132379||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.102-777A>G|||||||rs132379||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.102-777A>G|||||||rs132379||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.102-777A>G|||||||rs132379||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+8010A>G|||||||rs132379||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29214149A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs132379|1428|1||HGNC|HGNC:18036|5||||||||Ensembl||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.102-777A>G|||||||rs132379||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.102-777A>G|||||||rs132379||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.102-777A>G|||||||rs132379||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.102-777A>G|||||||rs132379||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.102-777A>G|||||||rs132379||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.102-777A>G|||||||rs132379||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.102-777A>G|||||||rs132379||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.102-777A>G|||||||rs132379||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.102-777A>G|||||||rs132379||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.102-777A>G|||||||rs132379||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs132379|1396|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.102-777A>G|||||||rs132379||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.102-777A>G|||||||rs132379||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.102-777A>G|||||||rs132379||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.102-777A>G|||||||rs132379||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.102-777A>G|||||||rs132379||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs132379|2178|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.245-777A>G|||||||rs132379||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.245-777A>G|||||||rs132379||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29214149A>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|-7|30|20|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=133549;gnomADv4_1_AC_joint_XX=68536;gnomADv4_1_AC_joint_XY=65013;gnomADv4_1_AF_grpmax_joint=0.935054;gnomADv4_1_AF_joint=0.877238;gnomADv4_1_AF_joint_XX=0.880858;gnomADv4_1_AF_joint_XY=0.873455;gnomADv4_1_AN_grpmax_joint=68026;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=59187;gnomADv4_1_nhomalt_joint_XX=30480;gnomADv4_1_nhomalt_joint_XY=28707;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29214343 chr22_29214343_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.025;CADD_Rawscore=-0.994182;CSQ=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.102-583T>C|||||||rs132380||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.102-583T>C|||||||rs132380||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.102-583T>C|||||||rs132380||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.102-583T>C|||||||rs132380||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.102-583T>C|||||||rs132380||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+8204T>C|||||||rs132380||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||T|T||||chr22:g.29214343T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs132380|1234|1||HGNC|HGNC:18036|5||||||||Ensembl||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.102-583T>C|||||||rs132380||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.102-583T>C|||||||rs132380||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.102-583T>C|||||||rs132380||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.102-583T>C|||||||rs132380||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.102-583T>C|||||||rs132380||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.102-583T>C|||||||rs132380||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.102-583T>C|||||||rs132380||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.102-583T>C|||||||rs132380||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.102-583T>C|||||||rs132380||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.102-583T>C|||||||rs132380||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs132380|1202|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.102-583T>C|||||||rs132380||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.102-583T>C|||||||rs132380||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.102-583T>C|||||||rs132380||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.102-583T>C|||||||rs132380||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.102-583T>C|||||||rs132380||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs132380|1984|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.245-583T>C|||||||rs132380||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.245-583T>C|||||||rs132380||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29214343T>C|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.02|0.00|11|12|11|16;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=146354;gnomADv4_1_AC_joint_XX=74815;gnomADv4_1_AC_joint_XY=71539;gnomADv4_1_AF_grpmax_joint=0.999612;gnomADv4_1_AF_joint=0.961299;gnomADv4_1_AF_joint_XX=0.961336;gnomADv4_1_AF_joint_XY=0.961261;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152246;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70416;gnomADv4_1_nhomalt_joint_XX=36005;gnomADv4_1_nhomalt_joint_XY=34411;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29214411 chr22_29214411_A_G A G 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.039;CADD_Rawscore=-0.865415;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||1/14|ENST00000334018.11:c.102-515A>G|||||||rs73399059||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||1/13|ENST00000404755.7:c.102-515A>G|||||||rs73399059||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||1/14|ENST00000404820.7:c.102-515A>G|||||||rs73399059||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||1/6|ENST00000429226.5:c.102-515A>G|||||||rs73399059||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||1/5|ENST00000430127.1:c.102-515A>G|||||||rs73399059||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+8272A>G|||||||rs73399059||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29214411A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs73399059|1166|1||HGNC|HGNC:18036|5||||||||Ensembl||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||1/14|NM_001267895.2:c.102-515A>G|||||||rs73399059||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||1/14|NM_001410828.1:c.102-515A>G|||||||rs73399059||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||1/14|NM_133455.4:c.102-515A>G|||||||rs73399059||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||1/13|XM_005261329.4:c.102-515A>G|||||||rs73399059||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||1/15|XM_011529868.4:c.102-515A>G|||||||rs73399059||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||1/15|XM_011529869.4:c.102-515A>G|||||||rs73399059||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||1/14|XM_011529870.4:c.102-515A>G|||||||rs73399059||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||1/14|XM_011529871.4:c.102-515A>G|||||||rs73399059||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||1/15|XM_011529872.4:c.102-515A>G|||||||rs73399059||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||1/15|XM_011529873.4:c.102-515A>G|||||||rs73399059||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs73399059|1134|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||1/14|XM_047441133.1:c.102-515A>G|||||||rs73399059||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||1/13|XM_047441134.1:c.102-515A>G|||||||rs73399059||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||1/13|XM_047441135.1:c.102-515A>G|||||||rs73399059||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||1/14|XM_047441136.1:c.102-515A>G|||||||rs73399059||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||1/13|XM_047441137.1:c.102-515A>G|||||||rs73399059||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs73399059|1916|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||1/16|XR_937808.4:n.245-515A>G|||||||rs73399059||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||1/10|XR_937810.4:n.245-515A>G|||||||rs73399059||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29214411A>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|22|21|20|9;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3598;gnomADv4_1_AC_joint_XX=1923;gnomADv4_1_AC_joint_XY=1675;gnomADv4_1_AF_grpmax_joint=0.0825989;gnomADv4_1_AF_joint=0.0236322;gnomADv4_1_AF_joint_XX=0.0247185;gnomADv4_1_AF_joint_XY=0.0224971;gnomADv4_1_AN_grpmax_joint=41526;gnomADv4_1_AN_joint=152250;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=144;gnomADv4_1_nhomalt_joint_XX=74;gnomADv4_1_nhomalt_joint_XY=70;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29215191 chr22_29215191_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.238;CADD_Rawscore=0.037732;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||2/14|ENST00000334018.11:c.215+152C>T|||||||rs111650173||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||2/13|ENST00000404755.7:c.215+152C>T|||||||rs111650173||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||2/14|ENST00000404820.7:c.215+152C>T|||||||rs111650173||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||2/6|ENST00000429226.5:c.215+152C>T|||||||rs111650173||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||2/5|ENST00000430127.1:c.215+152C>T|||||||rs111650173||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+9052C>T|||||||rs111650173||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29215191C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs111650173|386|1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||2/14|NM_001267895.2:c.215+152C>T|||||||rs111650173||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||2/14|NM_001410828.1:c.215+152C>T|||||||rs111650173||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||2/14|NM_133455.4:c.215+152C>T|||||||rs111650173||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||2/13|XM_005261329.4:c.215+152C>T|||||||rs111650173||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||2/15|XM_011529868.4:c.215+152C>T|||||||rs111650173||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||2/15|XM_011529869.4:c.215+152C>T|||||||rs111650173||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||2/14|XM_011529870.4:c.215+152C>T|||||||rs111650173||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||2/14|XM_011529871.4:c.215+152C>T|||||||rs111650173||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||2/15|XM_011529872.4:c.215+152C>T|||||||rs111650173||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||2/15|XM_011529873.4:c.215+152C>T|||||||rs111650173||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs111650173|354|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||2/14|XM_047441133.1:c.215+152C>T|||||||rs111650173||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||2/13|XM_047441134.1:c.215+152C>T|||||||rs111650173||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||2/13|XM_047441135.1:c.215+152C>T|||||||rs111650173||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||2/14|XM_047441136.1:c.215+152C>T|||||||rs111650173||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||2/13|XM_047441137.1:c.215+152C>T|||||||rs111650173||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs111650173|1136|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||2/16|XR_937808.4:n.358+152C>T|||||||rs111650173||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||2/10|XR_937810.4:n.358+152C>T|||||||rs111650173||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29215191C>T|||||||||||||;SpliceAI=T|EMID1|0.02|0.00|0.00|0.00|21|8|-28|-1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56;gnomADv4_1_AC_joint_XX=25;gnomADv4_1_AC_joint_XY=31;gnomADv4_1_AF_grpmax_joint=0.000109021;gnomADv4_1_AF_joint=3.94004e-05;gnomADv4_1_AF_joint_XX=3.4085e-05;gnomADv4_1_AF_joint_XY=4.50682e-05;gnomADv4_1_AN_grpmax_joint=64208;gnomADv4_1_AN_joint=1421306;gnomADv4_1_AN_joint_XX=733460;gnomADv4_1_AN_joint_XY=687846;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29216492 chr22_29216492_G_A G A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.194;CADD_Rawscore=0.028323;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.319+862G>A|||||||rs132381||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.319+862G>A|||||||rs132381||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.319+862G>A|||||||rs132381||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.319+862G>A|||||||rs132381||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.319+862G>A|||||||rs132381||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+10353G>A|||||||rs132381||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.54+862G>A|||||||rs132381||1||HGNC|HGNC:18036|5||||||||Ensembl||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.319+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.319+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.319+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.319+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.319+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.319+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.319+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.319+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.319+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.319+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.-1+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.319+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.319+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.319+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.319+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.319+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA|1/2||XR_007068058.1:n.166G>A||166|||||rs132381||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.462+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.462+862G>A|||||||rs132381||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29216492G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|-37|8|37|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=591290;gnomADv4_1_AC_joint_XX=315988;gnomADv4_1_AC_joint_XY=275302;gnomADv4_1_AF_grpmax_joint=0.67969;gnomADv4_1_AF_joint=0.600141;gnomADv4_1_AF_joint_XX=0.60055;gnomADv4_1_AF_joint_XY=0.599672;gnomADv4_1_AN_grpmax_joint=16278;gnomADv4_1_AN_joint=985252;gnomADv4_1_AN_joint_XX=526164;gnomADv4_1_AN_joint_XY=459088;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=180185;gnomADv4_1_nhomalt_joint_XX=96538;gnomADv4_1_nhomalt_joint_XY=83647;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29216747 chr22_29216747_G_A G A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.144;CADD_Rawscore=-0.51386;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.319+1117G>A|||||||rs132382||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.319+1117G>A|||||||rs132382||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.319+1117G>A|||||||rs132382||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.319+1117G>A|||||||rs132382||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.319+1117G>A|||||||rs132382||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+10608G>A|||||||rs132382||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.54+1117G>A|||||||rs132382||1||HGNC|HGNC:18036|5||||||||Ensembl||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.319+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.319+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.319+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.319+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.319+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.319+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.319+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.319+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.319+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.319+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.-1+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.319+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.319+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.319+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.319+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.319+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||1/1|XR_007068058.1:n.309+112G>A|||||||rs132382||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.462+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.462+1117G>A|||||||rs132382||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29216747G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|-46|6|14|-27;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=757331;gnomADv4_1_AC_joint_XX=401022;gnomADv4_1_AC_joint_XY=356309;gnomADv4_1_AF_grpmax_joint=0.999248;gnomADv4_1_AF_joint=0.941678;gnomADv4_1_AF_joint_XX=0.941463;gnomADv4_1_AF_joint_XY=0.941919;gnomADv4_1_AN_grpmax_joint=7974;gnomADv4_1_AN_joint=804236;gnomADv4_1_AN_joint_XX=425956;gnomADv4_1_AN_joint_XY=378280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=356741;gnomADv4_1_nhomalt_joint_XX=188859;gnomADv4_1_nhomalt_joint_XY=167882;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29217531 chr22_29217531_A_C A C 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.12;CADD_Rawscore=-0.561725;CSQ=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.319+1901A>C|||||||rs132383||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.319+1901A>C|||||||rs132383||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.319+1901A>C|||||||rs132383||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.319+1901A>C|||||||rs132383||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.319+1901A>C|||||||rs132383||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+11392A>C|||||||rs132383||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.54+1901A>C|||||||rs132383||1||HGNC|HGNC:18036|5||||||||Ensembl||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.319+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.319+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.319+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.319+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.319+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.319+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.319+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.319+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.319+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.319+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.-1+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.319+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.319+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.319+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.319+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.319+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||1/1|XR_007068058.1:n.309+896A>C|||||||rs132383||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.462+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.462+1901A>C|||||||rs132383||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29217531A>C|||1||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FL55|enhancer||||||||||rs132383|||||||||||||||||||||chr22:g.29217531A>C|||1||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|-14|44|48|19;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_007068058.1,XR_937808.4,XR_937810.4,ENSR22_9FL55;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,124905099,129080,129080,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC124905099,EMID1,EMID1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=150953;gnomADv4_1_AC_joint_XX=77177;gnomADv4_1_AC_joint_XY=73776;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.990804;gnomADv4_1_AF_joint_XX=0.991228;gnomADv4_1_AF_joint_XY=0.990362;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152354;gnomADv4_1_AN_joint_XX=77860;gnomADv4_1_AN_joint_XY=74494;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=74789;gnomADv4_1_nhomalt_joint_XX=38257;gnomADv4_1_nhomalt_joint_XY=36532;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29217594 chr22_29217594_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.331;CADD_Rawscore=-0.296758;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.319+1964C>T|||||||rs181054392||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.319+1964C>T|||||||rs181054392||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.319+1964C>T|||||||rs181054392||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.319+1964C>T|||||||rs181054392||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.319+1964C>T|||||||rs181054392||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+11455C>T|||||||rs181054392||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.54+1964C>T|||||||rs181054392||1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.319+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.319+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.319+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.319+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.319+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.319+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.319+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.319+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.319+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.319+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.-1+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.319+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.319+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.319+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.319+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.319+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||1/1|XR_007068058.1:n.309+959C>T|||||||rs181054392||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.462+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.462+1964C>T|||||||rs181054392||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29217594C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FL55|enhancer||||||||||rs181054392|||||||||||||||||||||chr22:g.29217594C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|24|0|-15|30;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_007068058.1,XR_937808.4,XR_937810.4,ENSR22_9FL55;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,124905099,129080,129080,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC124905099,EMID1,EMID1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=553;gnomADv4_1_AC_joint_XX=299;gnomADv4_1_AC_joint_XY=254;gnomADv4_1_AF_grpmax_joint=0.00587959;gnomADv4_1_AF_joint=0.00362994;gnomADv4_1_AF_joint_XX=0.00384062;gnomADv4_1_AF_joint_XY=0.00340976;gnomADv4_1_AN_grpmax_joint=68032;gnomADv4_1_AN_joint=152344;gnomADv4_1_AN_joint_XX=77852;gnomADv4_1_AN_joint_XY=74492;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29217941 chr22_29217941_A_G A G 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.016;CADD_Rawscore=-1.11791;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.319+2311A>G|||||||rs73882501||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.319+2311A>G|||||||rs73882501||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.319+2311A>G|||||||rs73882501||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.319+2311A>G|||||||rs73882501||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.319+2311A>G|||||||rs73882501||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+11802A>G|||||||rs73882501||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.54+2311A>G|||||||rs73882501||1||HGNC|HGNC:18036|5||||||||Ensembl||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.319+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.319+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.319+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.319+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.319+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.319+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.319+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.319+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.319+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.319+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.-1+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.319+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.319+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.319+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.319+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.319+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||1/1|XR_007068058.1:n.310-1022A>G|||||||rs73882501||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.462+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.462+2311A>G|||||||rs73882501||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29217941A>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|-24|17|22|17;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21345;gnomADv4_1_AC_joint_XX=10330;gnomADv4_1_AC_joint_XY=11015;gnomADv4_1_AF_grpmax_joint=0.274293;gnomADv4_1_AF_joint=0.140262;gnomADv4_1_AF_joint_XX=0.132787;gnomADv4_1_AF_joint_XY=0.148079;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1710;gnomADv4_1_nhomalt_joint_XX=762;gnomADv4_1_nhomalt_joint_XY=948;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29218314 chr22_29218314_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.912;CADD_Rawscore=-0.04169;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.319+2684C>T|||||||rs79381182||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.319+2684C>T|||||||rs79381182||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.319+2684C>T|||||||rs79381182||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.319+2684C>T|||||||rs79381182||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.319+2684C>T|||||||rs79381182||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.101+12175C>T|||||||rs79381182||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.54+2684C>T|||||||rs79381182||1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.319+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.319+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.319+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.319+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.319+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.319+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.319+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.319+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.319+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.319+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.-1+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.319+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.319+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.319+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.319+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.319+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||1/1|XR_007068058.1:n.310-649C>T|||||||rs79381182||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.462+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.462+2684C>T|||||||rs79381182||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29218314C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|26|-12|-24|43;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13762;gnomADv4_1_AC_joint_XX=6842;gnomADv4_1_AC_joint_XY=6920;gnomADv4_1_AF_grpmax_joint=0.0962274;gnomADv4_1_AF_joint=0.0903884;gnomADv4_1_AF_joint_XX=0.0879186;gnomADv4_1_AF_joint_XY=0.0929708;gnomADv4_1_AN_grpmax_joint=68016;gnomADv4_1_AN_joint=152254;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=724;gnomADv4_1_nhomalt_joint_XX=335;gnomADv4_1_nhomalt_joint_XY=389;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29218689 chr22_29218689_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.518;CADD_Rawscore=-0.184207;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.319+3059G>A|||||||rs2097471||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.319+3059G>A|||||||rs2097471||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.319+3059G>A|||||||rs2097471||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.319+3059G>A|||||||rs2097471||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.319+3059G>A|||||||rs2097471||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-12331G>A|||||||rs2097471||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.54+3059G>A|||||||rs2097471||1||HGNC|HGNC:18036|5||||||||Ensembl||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.319+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.319+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.319+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.319+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.319+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.319+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.319+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.319+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.319+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.319+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.-1+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.319+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.319+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.319+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.319+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.319+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs2097471|4719|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||1/1|XR_007068058.1:n.310-274G>A|||||||rs2097471||1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.462+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.462+3059G>A|||||||rs2097471||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29218689G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|49|-6|-3|-49;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=79407;gnomADv4_1_AC_joint_XX=40728;gnomADv4_1_AC_joint_XY=38679;gnomADv4_1_AF_grpmax_joint=0.676582;gnomADv4_1_AF_joint=0.522071;gnomADv4_1_AF_joint_XX=0.523779;gnomADv4_1_AF_joint_XY=0.520285;gnomADv4_1_AN_grpmax_joint=15296;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=23046;gnomADv4_1_nhomalt_joint_XX=11922;gnomADv4_1_nhomalt_joint_XY=11124;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29219547 chr22_29219547_A_C A C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.471;CADD_Rawscore=0.220503;CSQ=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.319+3917A>C|||||||rs113555419||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.319+3917A>C|||||||rs113555419||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.319+3917A>C|||||||rs113555419||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.319+3917A>C|||||||rs113555419||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.319+3917A>C|||||||rs113555419||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-11473A>C|||||||rs113555419||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.54+3917A>C|||||||rs113555419||1||HGNC|HGNC:18036|5||||||||Ensembl||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.319+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.319+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.319+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.319+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.319+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.319+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.319+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.319+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.319+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.319+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.-1+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.319+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.319+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.319+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.319+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.319+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs113555419|3861|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA|2/2||XR_007068058.1:n.894A>C||894|||||rs113555419||1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.462+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.462+3917A>C|||||||rs113555419||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29219547A>C|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|39|2|19|1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10912;gnomADv4_1_AC_joint_XX=5315;gnomADv4_1_AC_joint_XY=5597;gnomADv4_1_AF_grpmax_joint=0.0962483;gnomADv4_1_AF_joint=0.0716754;gnomADv4_1_AF_joint_XX=0.0682951;gnomADv4_1_AF_joint_XY=0.0752103;gnomADv4_1_AN_grpmax_joint=68022;gnomADv4_1_AN_joint=152242;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=569;gnomADv4_1_nhomalt_joint_XX=255;gnomADv4_1_nhomalt_joint_XY=314;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29219743 chr22_29219743_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=10.63;CADD_Rawscore=1.02655;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.319+4113C>T|||||||rs5763061||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.319+4113C>T|||||||rs5763061||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.319+4113C>T|||||||rs5763061||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.319+4113C>T|||||||rs5763061||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.319+4113C>T|||||||rs5763061||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-11277C>T|||||||rs5763061||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.54+4113C>T|||||||rs5763061||1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.319+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.319+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.319+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.319+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.319+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.319+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.319+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.319+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.319+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.319+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.-1+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.319+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.319+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.319+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.319+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.319+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs5763061|3665|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA|2/2||XR_007068058.1:n.1090C>T||1090|||||rs5763061||1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.462+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.462+4113C>T|||||||rs5763061||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29219743C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|11|23|-20|15;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=93859;gnomADv4_1_AC_joint_XX=48444;gnomADv4_1_AC_joint_XY=45415;gnomADv4_1_AF_grpmax_joint=0.724237;gnomADv4_1_AF_joint=0.617558;gnomADv4_1_AF_joint_XX=0.623571;gnomADv4_1_AF_joint_XY=0.611271;gnomADv4_1_AN_grpmax_joint=15274;gnomADv4_1_AN_joint=151984;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=30024;gnomADv4_1_nhomalt_joint_XX=15657;gnomADv4_1_nhomalt_joint_XY=14367;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29220276 chr22_29220276_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=4.007;CADD_Rawscore=0.36587;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.319+4646A>G|||||||rs132384||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.319+4646A>G|||||||rs132384||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.319+4646A>G|||||||rs132384||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.319+4646A>G|||||||rs132384||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.319+4646A>G|||||||rs132384||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-10744A>G|||||||rs132384||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.54+4646A>G|||||||rs132384||1||HGNC|HGNC:18036|5||||||||Ensembl||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.319+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.319+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.319+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.319+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.319+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.319+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.319+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.319+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.319+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.319+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.-1+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.319+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.319+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.319+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.319+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.319+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs132384|3132|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs132384|465|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.462+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.462+4646A>G|||||||rs132384||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29220276A>G|||1||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|-38|2|25|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97858;gnomADv4_1_AC_joint_XX=50576;gnomADv4_1_AC_joint_XY=47282;gnomADv4_1_AF_grpmax_joint=0.750654;gnomADv4_1_AF_joint=0.643608;gnomADv4_1_AF_joint_XX=0.650696;gnomADv4_1_AF_joint_XY=0.636195;gnomADv4_1_AN_grpmax_joint=15288;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=32756;gnomADv4_1_nhomalt_joint_XX=17121;gnomADv4_1_nhomalt_joint_XY=15635;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29221066 chr22_29221066_CGTGTGTGTGTGTGTGTGTGT_C CGTGTGTGTGTGTGTGTGTGT C 21 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=21;CADDIndel_PHREDscore=2.368;CADDIndel_Rawscore=0.209007;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.320-4028_320-4009del|||||||rs59651061||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.320-4028_320-4009del|||||||rs59651061||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.320-4028_320-4009del|||||||rs59651061||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.320-4028_320-4009del|||||||rs59651061||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.320-5385_320-5366del|||||||rs59651061||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-9915_102-9896del|||||||rs59651061||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.55-4028_55-4009del|||||||rs59651061||1||HGNC|HGNC:18036|5||||||||Ensembl||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.320-4034_320-4015del|||||||rs59651061||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.320-4028_320-4009del|||||||rs59651061||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.320-4028_320-4009del|||||||rs59651061||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.320-5385_320-5366del|||||||rs59651061||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.320-4028_320-4009del|||||||rs59651061||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.320-4028_320-4009del|||||||rs59651061||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.320-4028_320-4009del|||||||rs59651061||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.320-5385_320-5366del|||||||rs59651061||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.320-4028_320-4009del|||||||rs59651061||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.320-4028_320-4009del|||||||rs59651061||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.-1+5475_-1+5494del|||||||rs59651061||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.320-5385_320-5366del|||||||rs59651061||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.320-4028_320-4009del|||||||rs59651061||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.320-5385_320-5366del|||||||rs59651061||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.320-4028_320-4009del|||||||rs59651061||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.320-5385_320-5366del|||||||rs59651061||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs59651061|2322|-1||EntrezGene||||||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT||||chr22:g.29221105_29221124del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs59651061|1256|1||EntrezGene||||||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT||||chr22:g.29221105_29221124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.463-4028_463-4009del|||||||rs59651061||1||EntrezGene|HGNC:18036|||||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.463-4028_463-4009del|||||||rs59651061||1||EntrezGene|HGNC:18036|||||||||RefSeq||GTGTGTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGTGTGT|||38|chr22:g.29221105_29221124del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15912;gnomADv4_1_AC_joint_XX=8186;gnomADv4_1_AC_joint_XY=7726;gnomADv4_1_AF_grpmax_joint=0.333199;gnomADv4_1_AF_joint=0.158993;gnomADv4_1_AF_joint_XX=0.15348;gnomADv4_1_AF_joint_XY=0.165283;gnomADv4_1_AN_grpmax_joint=2482;gnomADv4_1_AN_joint=100080;gnomADv4_1_AN_joint_XX=53336;gnomADv4_1_AN_joint_XY=46744;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1370;gnomADv4_1_nhomalt_joint_XX=658;gnomADv4_1_nhomalt_joint_XY=712;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29221249 chr22_29221249_GGGA_G GGGA G 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=3.772;CADDIndel_Rawscore=0.344991;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.320-3879_320-3877del|||||||rs132385||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.320-3879_320-3877del|||||||rs132385||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.320-3879_320-3877del|||||||rs132385||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.320-3879_320-3877del|||||||rs132385||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.320-5236_320-5234del|||||||rs132385||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-9766_102-9764del|||||||rs132385||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.55-3879_55-3877del|||||||rs132385||1||HGNC|HGNC:18036|5||||||||Ensembl||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.320-3885_320-3883del|||||||rs132385||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.320-3879_320-3877del|||||||rs132385||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.320-3879_320-3877del|||||||rs132385||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.320-5236_320-5234del|||||||rs132385||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.320-3879_320-3877del|||||||rs132385||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.320-3879_320-3877del|||||||rs132385||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.320-3879_320-3877del|||||||rs132385||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.320-5236_320-5234del|||||||rs132385||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.320-3879_320-3877del|||||||rs132385||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.320-3879_320-3877del|||||||rs132385||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.-1+5624_-1+5626del|||||||rs132385||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.320-5236_320-5234del|||||||rs132385||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.320-3879_320-3877del|||||||rs132385||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.320-5236_320-5234del|||||||rs132385||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.320-3879_320-3877del|||||||rs132385||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.320-5236_320-5234del|||||||rs132385||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs132385|2156|-1||EntrezGene||||||||||RefSeq||GGA|GGA||||chr22:g.29221254_29221256del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs132385|1439|1||EntrezGene||||||||||RefSeq||GGA|GGA||||chr22:g.29221254_29221256del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.463-3879_463-3877del|||||||rs132385||1||EntrezGene|HGNC:18036|||||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.463-3879_463-3877del|||||||rs132385||1||EntrezGene|HGNC:18036|||||||||RefSeq||GGA|GGA|||4|chr22:g.29221254_29221256del|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|4|-30|-5|34;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77335;gnomADv4_1_AC_joint_XX=39719;gnomADv4_1_AC_joint_XY=37616;gnomADv4_1_AF_grpmax_joint=0.673933;gnomADv4_1_AF_joint=0.510368;gnomADv4_1_AF_joint_XX=0.512318;gnomADv4_1_AF_joint_XY=0.508324;gnomADv4_1_AN_grpmax_joint=15230;gnomADv4_1_AN_joint=151528;gnomADv4_1_AN_joint_XX=77528;gnomADv4_1_AN_joint_XY=74000;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=22297;gnomADv4_1_nhomalt_joint_XX=11552;gnomADv4_1_nhomalt_joint_XY=10745;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29221331 chr22_29221331_A_G A G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=4.918;CADD_Rawscore=0.448198;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.320-3802A>G|||||||rs12628389||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.320-3802A>G|||||||rs12628389||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.320-3802A>G|||||||rs12628389||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.320-3802A>G|||||||rs12628389||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.320-5159A>G|||||||rs12628389||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-9689A>G|||||||rs12628389||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.55-3802A>G|||||||rs12628389||1||HGNC|HGNC:18036|5||||||||Ensembl||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.320-3808A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.320-3802A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.320-3802A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.320-5159A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.320-3802A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.320-3802A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.320-3802A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.320-5159A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.320-3802A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.320-3802A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.-1+5701A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.320-5159A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.320-3802A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.320-5159A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.320-3802A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.320-5159A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs12628389|2077|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs12628389|1520|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.463-3802A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.463-3802A>G|||||||rs12628389||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29221331A>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|-11|15|-48|33;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32291;gnomADv4_1_AC_joint_XX=16083;gnomADv4_1_AC_joint_XY=16208;gnomADv4_1_AF_grpmax_joint=0.344681;gnomADv4_1_AF_joint=0.212505;gnomADv4_1_AF_joint_XX=0.207047;gnomADv4_1_AF_joint_XY=0.218213;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=151954;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3786;gnomADv4_1_nhomalt_joint_XX=1833;gnomADv4_1_nhomalt_joint_XY=1953;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29222011 chr22_29222011_G_A G A 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.307;CADD_Rawscore=-0.316541;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.320-3122G>A|||||||rs132386||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.320-3122G>A|||||||rs132386||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.320-3122G>A|||||||rs132386||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.320-3122G>A|||||||rs132386||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.320-4479G>A|||||||rs132386||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-9009G>A|||||||rs132386||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.55-3122G>A|||||||rs132386||1||HGNC|HGNC:18036|5||||||||Ensembl||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.320-3128G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.320-3122G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.320-3122G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.320-4479G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.320-3122G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.320-3122G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.320-3122G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.320-4479G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.320-3122G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.320-3122G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.-1+6381G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.320-4479G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.320-3122G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.320-4479G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.320-3122G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.320-4479G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs132386|1397|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs132386|2200|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.463-3122G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.463-3122G>A|||||||rs132386||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29222011G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|2|-4|2|14;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=146264;gnomADv4_1_AC_joint_XX=74724;gnomADv4_1_AC_joint_XY=71540;gnomADv4_1_AF_grpmax_joint=0.999229;gnomADv4_1_AF_joint=0.960305;gnomADv4_1_AF_joint_XX=0.95992;gnomADv4_1_AF_joint_XY=0.960707;gnomADv4_1_AN_grpmax_joint=5186;gnomADv4_1_AN_joint=152310;gnomADv4_1_AN_joint_XX=77844;gnomADv4_1_AN_joint_XY=74466;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70295;gnomADv4_1_nhomalt_joint_XX=35903;gnomADv4_1_nhomalt_joint_XY=34392;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29222386 chr22_29222386_G_T G T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.018;CADD_Rawscore=-1.0868;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.320-2747G>T|||||||rs113492476||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.320-2747G>T|||||||rs113492476||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.320-2747G>T|||||||rs113492476||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.320-2747G>T|||||||rs113492476||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.320-4104G>T|||||||rs113492476||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-8634G>T|||||||rs113492476||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.55-2747G>T|||||||rs113492476||1||HGNC|HGNC:18036|5||||||||Ensembl||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.320-2753G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.320-2747G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.320-2747G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.320-4104G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.320-2747G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.320-2747G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.320-2747G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.320-4104G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.320-2747G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.320-2747G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.-1+6756G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.320-4104G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.320-2747G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.320-4104G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.320-2747G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.320-4104G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs113492476|1022|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs113492476|2575|1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.463-2747G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.463-2747G>T|||||||rs113492476||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29222386G>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|43|-15|-13|-15;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10677;gnomADv4_1_AC_joint_XX=5243;gnomADv4_1_AC_joint_XY=5434;gnomADv4_1_AF_grpmax_joint=0.0962323;gnomADv4_1_AF_joint=0.0715569;gnomADv4_1_AF_joint_XX=0.0683465;gnomADv4_1_AF_joint_XY=0.0749538;gnomADv4_1_AN_grpmax_joint=67680;gnomADv4_1_AN_joint=149210;gnomADv4_1_AN_joint_XX=76712;gnomADv4_1_AN_joint_XY=72498;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=548;gnomADv4_1_nhomalt_joint_XX=249;gnomADv4_1_nhomalt_joint_XY=299;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29222406 chr22_29222406_CT_C CT C 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=0;AC_XY=4;AF=1.0;AF_XX=.;AF_XY=1.0;AN=4;AN_XX=0;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.677;CADDIndel_Rawscore=-0.117382;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.320-2708del|||||||rs67787562||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.320-2708del|||||||rs67787562||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.320-2708del|||||||rs67787562||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.320-2708del|||||||rs67787562||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.320-4065del|||||||rs67787562||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-8595del|||||||rs67787562||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.55-2708del|||||||rs67787562||1||HGNC|HGNC:18036|5||||||||Ensembl||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.320-2714del|||||||rs67787562||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.320-2708del|||||||rs67787562||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.320-2708del|||||||rs67787562||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.320-4065del|||||||rs67787562||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.320-2708del|||||||rs67787562||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.320-2708del|||||||rs67787562||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.320-2708del|||||||rs67787562||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.320-4065del|||||||rs67787562||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.320-2708del|||||||rs67787562||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.320-2708del|||||||rs67787562||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.-1+6795del|||||||rs67787562||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.320-4065del|||||||rs67787562||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.320-2708del|||||||rs67787562||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.320-4065del|||||||rs67787562||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.320-2708del|||||||rs67787562||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.320-4065del|||||||rs67787562||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs67787562|1001|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29222425del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs67787562|2596|1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29222425del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.463-2708del|||||||rs67787562||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.463-2708del|||||||rs67787562||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T|||18|chr22:g.29222425del|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|23|26|-35|20;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_007068058.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,124905099,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,LOC124905099,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66497;gnomADv4_1_AC_joint_XX=35526;gnomADv4_1_AC_joint_XY=30971;gnomADv4_1_AF_grpmax_joint=0.846371;gnomADv4_1_AF_joint=0.750124;gnomADv4_1_AF_joint_XX=0.750856;gnomADv4_1_AF_joint_XY=0.749286;gnomADv4_1_AN_grpmax_joint=2480;gnomADv4_1_AN_joint=88648;gnomADv4_1_AN_joint_XX=47314;gnomADv4_1_AN_joint_XY=41334;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=23998;gnomADv4_1_nhomalt_joint_XX=12794;gnomADv4_1_nhomalt_joint_XY=11204;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29224243 chr22_29224243_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.018;CADD_Rawscore=-1.08759;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.320-890C>T|||||||rs132388||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.320-890C>T|||||||rs132388||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.320-890C>T|||||||rs132388||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.320-890C>T|||||||rs132388||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.320-2247C>T|||||||rs132388||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-6777C>T|||||||rs132388||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.55-890C>T|||||||rs132388||1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.320-896C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.320-890C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.320-890C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.320-2247C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.320-890C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.320-890C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.320-890C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.320-2247C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.320-890C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.320-890C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-6777C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.320-2247C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.320-890C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.320-2247C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.320-890C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.320-2247C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||1/2|XR_001755481.2:n.101-525G>A|||||||rs132388||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs132388|4432|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.463-890C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.463-890C>T|||||||rs132388||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29224243C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7RL3|enhancer||||||||||rs132388|||||||||||||||||||||chr22:g.29224243C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|45|-8|45|27;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_007068058.1,XR_937808.4,XR_937810.4,ENSR22_B7RL3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,124905099,129080,129080,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,LOC124905099,EMID1,EMID1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72707;gnomADv4_1_AC_joint_XX=37178;gnomADv4_1_AC_joint_XY=35529;gnomADv4_1_AF_grpmax_joint=0.664641;gnomADv4_1_AF_joint=0.477858;gnomADv4_1_AF_joint_XX=0.478038;gnomADv4_1_AF_joint_XY=0.477669;gnomADv4_1_AN_grpmax_joint=15300;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=19893;gnomADv4_1_nhomalt_joint_XX=10218;gnomADv4_1_nhomalt_joint_XY=9675;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29224297 chr22_29224297_C_T C T 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.16;CADD_Rawscore=-0.485396;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.320-836C>T|||||||rs558052942||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.320-836C>T|||||||rs558052942||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.320-836C>T|||||||rs558052942||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.320-836C>T|||||||rs558052942||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.320-2193C>T|||||||rs558052942||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-6723C>T|||||||rs558052942||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.55-836C>T|||||||rs558052942||1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.320-842C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.320-836C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.320-836C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.320-2193C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.320-836C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.320-836C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.320-836C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.320-2193C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.320-836C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.320-836C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-6723C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.320-2193C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.320-836C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.320-2193C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.320-836C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.320-2193C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||1/2|XR_001755481.2:n.101-579G>A|||||||rs558052942||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs558052942|4486|1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.463-836C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.463-836C>T|||||||rs558052942||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29224297C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7RL3|enhancer||||||||||rs558052942|||||||||||||||||||||chr22:g.29224297C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|41|-9|0|-5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_007068058.1,XR_937808.4,XR_937810.4,ENSR22_B7RL3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,124905099,129080,129080,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,LOC124905099,EMID1,EMID1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1220;gnomADv4_1_AC_joint_XX=638;gnomADv4_1_AC_joint_XY=582;gnomADv4_1_AF_grpmax_joint=0.0124511;gnomADv4_1_AF_joint=0.0080083;gnomADv4_1_AF_joint_XX=0.00819546;gnomADv4_1_AF_joint_XY=0.00781271;gnomADv4_1_AN_grpmax_joint=68026;gnomADv4_1_AN_joint=152342;gnomADv4_1_AN_joint_XX=77848;gnomADv4_1_AN_joint_XY=74494;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=6;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29224336 chr22_29224336_A_C A C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=9.234;CADD_Rawscore=0.897574;CSQ=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.320-797A>C|||||||rs9608740||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.320-797A>C|||||||rs9608740||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.320-797A>C|||||||rs9608740||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.320-797A>C|||||||rs9608740||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.320-2154A>C|||||||rs9608740||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-6684A>C|||||||rs9608740||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.55-797A>C|||||||rs9608740||1||HGNC|HGNC:18036|5||||||||Ensembl||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.320-803A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.320-797A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.320-797A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.320-2154A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.320-797A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.320-797A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.320-797A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.320-2154A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.320-797A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.320-797A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-6684A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.320-2154A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.320-797A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.320-2154A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.320-797A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.320-2154A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||1/2|XR_001755481.2:n.101-618T>G|||||||rs9608740||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs9608740|4525|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.463-797A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.463-797A>C|||||||rs9608740||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29224336A>C|||1||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7RL3|enhancer||||||||||rs9608740|||||||||||||||||||||chr22:g.29224336A>C|||1||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|-48|23|48|-39;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_007068058.1,XR_937808.4,XR_937810.4,ENSR22_B7RL3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,124905099,129080,129080,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,LOC124905099,EMID1,EMID1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33431;gnomADv4_1_AC_joint_XX=16404;gnomADv4_1_AC_joint_XY=17027;gnomADv4_1_AF_grpmax_joint=0.304519;gnomADv4_1_AF_joint=0.21964;gnomADv4_1_AF_joint_XX=0.210913;gnomADv4_1_AF_joint_XY=0.228759;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152208;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3809;gnomADv4_1_nhomalt_joint_XX=1783;gnomADv4_1_nhomalt_joint_XY=2026;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29224575 chr22_29224575_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=15.77;CADD_Rawscore=1.79345;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||3/14|ENST00000334018.11:c.320-558A>G|||||||rs132389||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||3/13|ENST00000404755.7:c.320-558A>G|||||||rs132389||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||3/14|ENST00000404820.7:c.320-558A>G|||||||rs132389||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||3/6|ENST00000429226.5:c.320-558A>G|||||||rs132389||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.320-1915A>G|||||||rs132389||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-6445A>G|||||||rs132389||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||1/7|ENST00000484039.5:n.55-558A>G|||||||rs132389||1||HGNC|HGNC:18036|5||||||||Ensembl||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||3/14|NM_001267895.2:c.320-564A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||3/14|NM_001410828.1:c.320-558A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||3/14|NM_133455.4:c.320-558A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.320-1915A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||3/15|XM_011529868.4:c.320-558A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||3/15|XM_011529869.4:c.320-558A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||3/14|XM_011529870.4:c.320-558A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.320-1915A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||3/15|XM_011529872.4:c.320-558A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||3/15|XM_011529873.4:c.320-558A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-6445A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.320-1915A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||3/13|XM_047441134.1:c.320-558A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.320-1915A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||3/14|XM_047441136.1:c.320-558A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.320-1915A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||1/2|XR_001755481.2:n.101-857T>C|||||||rs132389||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC124905099|124905099|Transcript|XR_007068058.1|lncRNA||||||||||rs132389|4764|1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||3/16|XR_937808.4:n.463-558A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||3/10|XR_937810.4:n.463-558A>G|||||||rs132389||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29224575A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7RL3|enhancer||||||||||rs132389|||||||||||||||||||||chr22:g.29224575A>G|||||||||||||;SpliceAI=G|EMID1|0.01|0.00|0.00|0.00|-5|31|-5|-6;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_007068058.1,XR_937808.4,XR_937810.4,ENSR22_B7RL3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,124905099,129080,129080,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,LOC124905099,EMID1,EMID1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=143643;gnomADv4_1_AC_joint_XX=73369;gnomADv4_1_AC_joint_XY=70274;gnomADv4_1_AF_grpmax_joint=0.99942;gnomADv4_1_AF_joint=0.943084;gnomADv4_1_AF_joint_XX=0.942683;gnomADv4_1_AF_joint_XY=0.943503;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152312;gnomADv4_1_AN_joint_XX=77830;gnomADv4_1_AN_joint_XY=74482;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67804;gnomADv4_1_nhomalt_joint_XX=34612;gnomADv4_1_nhomalt_joint_XY=33192;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29225488 chr22_29225488_C_T C T 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.81;CADD_Rawscore=0.255876;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||4/14|ENST00000334018.11:c.403+272C>T|||||||rs132390||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||4/13|ENST00000404755.7:c.403+272C>T|||||||rs132390||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||4/14|ENST00000404820.7:c.403+272C>T|||||||rs132390||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||4/6|ENST00000429226.5:c.403+272C>T|||||||rs132390||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.320-1002C>T|||||||rs132390||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-5532C>T|||||||rs132390||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||2/7|ENST00000484039.5:n.138+272C>T|||||||rs132390||1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||4/14|NM_001267895.2:c.397+272C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||4/14|NM_001410828.1:c.403+272C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||4/14|NM_133455.4:c.403+272C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.320-1002C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||4/15|XM_011529868.4:c.403+272C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||4/15|XM_011529869.4:c.403+272C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||4/14|XM_011529870.4:c.403+272C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.320-1002C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||4/15|XM_011529872.4:c.403+272C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||4/15|XM_011529873.4:c.403+272C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-5532C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.320-1002C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||4/13|XM_047441134.1:c.403+272C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.320-1002C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||4/14|XM_047441136.1:c.403+272C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.320-1002C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||1/2|XR_001755481.2:n.100+243G>A|||||||rs132390||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||4/16|XR_937808.4:n.546+272C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||4/10|XR_937810.4:n.546+272C>T|||||||rs132390||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29225488C>T|||1||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7RL9|enhancer||||||||||rs132390|||||||||||||||||||||chr22:g.29225488C>T|||1||||||||||;SpliceAI=T|EMID1|0.01|0.00|0.00|0.00|17|38|17|-25;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_937808.4,XR_937810.4,ENSR22_B7RL9;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,129080,129080,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,EMID1,EMID1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=146592;gnomADv4_1_AC_joint_XX=74832;gnomADv4_1_AC_joint_XY=71760;gnomADv4_1_AF_grpmax_joint=0.999614;gnomADv4_1_AF_joint=0.962357;gnomADv4_1_AF_joint_XX=0.961357;gnomADv4_1_AF_joint_XY=0.963403;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152326;gnomADv4_1_AN_joint_XX=77840;gnomADv4_1_AN_joint_XY=74486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70545;gnomADv4_1_nhomalt_joint_XX=35976;gnomADv4_1_nhomalt_joint_XY=34569;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29225872 chr22_29225872_T_C T C 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.372;CADD_Rawscore=-0.26714;CSQ=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||4/14|ENST00000334018.11:c.404-618T>C|||||||rs132391||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||4/13|ENST00000404755.7:c.404-618T>C|||||||rs132391||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||4/14|ENST00000404820.7:c.404-618T>C|||||||rs132391||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||4/6|ENST00000429226.5:c.404-618T>C|||||||rs132391||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||3/5|ENST00000430127.1:c.320-618T>C|||||||rs132391||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-5148T>C|||||||rs132391||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||2/7|ENST00000484039.5:n.139-550T>C|||||||rs132391||1||HGNC|HGNC:18036|5||||||||Ensembl||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||4/14|NM_001267895.2:c.398-618T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||4/14|NM_001410828.1:c.404-618T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||4/14|NM_133455.4:c.404-618T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||3/13|XM_005261329.4:c.320-618T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||4/15|XM_011529868.4:c.404-618T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||4/15|XM_011529869.4:c.404-618T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||4/14|XM_011529870.4:c.404-618T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||3/14|XM_011529871.4:c.320-618T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||4/15|XM_011529872.4:c.404-618T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||4/15|XM_011529873.4:c.404-618T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-5148T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||3/14|XM_047441133.1:c.320-618T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||4/13|XM_047441134.1:c.404-618T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||3/13|XM_047441135.1:c.320-618T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||4/14|XM_047441136.1:c.404-618T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||3/13|XM_047441137.1:c.320-618T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs132391|42|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||4/16|XR_937808.4:n.547-618T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||4/10|XR_937810.4:n.547-618T>C|||||||rs132391||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29225872T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7RL9|enhancer||||||||||rs132391|||||||||||||||||||||chr22:g.29225872T>C|||||||||||||;SpliceAI=C|EMID1|0.01|0.00|0.07|0.00|-17|21|9|-13;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000435427,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_937808.4,XR_937810.4,ENSR22_B7RL9;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,129080,129080,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,EMID1,EMID1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=147034;gnomADv4_1_AC_joint_XX=75114;gnomADv4_1_AC_joint_XY=71920;gnomADv4_1_AF_grpmax_joint=0.999612;gnomADv4_1_AF_joint=0.965563;gnomADv4_1_AF_joint_XX=0.965302;gnomADv4_1_AF_joint_XY=0.965836;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152278;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74464;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70997;gnomADv4_1_nhomalt_joint_XX=36256;gnomADv4_1_nhomalt_joint_XY=34741;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29226988 chr22_29226988_T_A T A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=4.621;CADD_Rawscore=0.420912;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||5/14|ENST00000334018.11:c.465+437T>A|||||||rs132392||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||5/13|ENST00000404755.7:c.465+437T>A|||||||rs132392||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||5/14|ENST00000404820.7:c.465+437T>A|||||||rs132392||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||5/6|ENST00000429226.5:c.465+437T>A|||||||rs132392||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||4/5|ENST00000430127.1:c.381+437T>A|||||||rs132392||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||T|T||||chr22:g.29226988T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs132392|4030|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-4032T>A|||||||rs132392||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||T|T||||chr22:g.29226988T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs132392|4694|1||HGNC|HGNC:18036|1||||||||Ensembl||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||3/7|ENST00000484039.5:n.268+437T>A|||||||rs132392||1||HGNC|HGNC:18036|5||||||||Ensembl||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||5/14|NM_001267895.2:c.459+437T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||5/14|NM_001410828.1:c.465+437T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||5/14|NM_133455.4:c.465+437T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||4/13|XM_005261329.4:c.381+437T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||5/15|XM_011529868.4:c.465+437T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||5/15|XM_011529869.4:c.465+437T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||5/14|XM_011529870.4:c.465+437T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||4/14|XM_011529871.4:c.381+437T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||5/15|XM_011529872.4:c.465+437T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||5/15|XM_011529873.4:c.465+437T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-4032T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs132392|4078|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||4/14|XM_047441133.1:c.381+437T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||5/13|XM_047441134.1:c.465+437T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||4/13|XM_047441135.1:c.381+437T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||5/14|XM_047441136.1:c.465+437T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||4/13|XM_047441137.1:c.381+437T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs132392|1158|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||5/16|XR_937808.4:n.608+437T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||5/10|XR_937810.4:n.608+437T>A|||||||rs132392||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29226988T>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|2|-36|-33|-36;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60156;gnomADv4_1_AC_joint_XX=30502;gnomADv4_1_AC_joint_XY=29654;gnomADv4_1_AF_grpmax_joint=0.617825;gnomADv4_1_AF_joint=0.402327;gnomADv4_1_AF_joint_XX=0.397648;gnomADv4_1_AF_joint_XY=0.407257;gnomADv4_1_AN_grpmax_joint=4948;gnomADv4_1_AN_joint=149520;gnomADv4_1_AN_joint_XX=76706;gnomADv4_1_AN_joint_XY=72814;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12503;gnomADv4_1_nhomalt_joint_XX=6291;gnomADv4_1_nhomalt_joint_XY=6212;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29227704 chr22_29227704_CA_C;chr22_29227704_CAAA_C CA C 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=11;CADDIndel_PHREDscore=1.454;CADDIndel_Rawscore=0.079895;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||5/14|ENST00000334018.11:c.465+1176del|||||||rs560219761||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||5/13|ENST00000404755.7:c.465+1176del|||||||rs560219761||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||5/14|ENST00000404820.7:c.465+1176del|||||||rs560219761||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||5/6|ENST00000429226.5:c.465+1176del|||||||rs560219761||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||4/5|ENST00000430127.1:c.381+1176del|||||||rs560219761||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A|||22|chr22:g.29227727del|||||||||||||,-|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs560219761|3313|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||A|A||||chr22:g.29227727del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-3293del|||||||rs560219761||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A|||22|chr22:g.29227727del|||||||||||||,-|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs560219761|3977|1||HGNC|HGNC:18036|1||||||||Ensembl||A|A||||chr22:g.29227727del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||3/7|ENST00000484039.5:n.268+1176del|||||||rs560219761||1||HGNC|HGNC:18036|5||||||||Ensembl||A|A|||22|chr22:g.29227727del|||||||||||||,-|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs560219761|4631|1||HGNC|HGNC:18036|3||||||||Ensembl||A|A||||chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||5/14|NM_001267895.2:c.459+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||5/14|NM_001410828.1:c.465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||5/14|NM_133455.4:c.465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||4/13|XM_005261329.4:c.381+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||5/15|XM_011529868.4:c.465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||5/15|XM_011529869.4:c.465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||5/14|XM_011529870.4:c.465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||4/14|XM_011529871.4:c.381+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||5/15|XM_011529872.4:c.465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||5/15|XM_011529873.4:c.465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-3293del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||,-|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs560219761|3361|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||A|A||||chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||4/14|XM_047441133.1:c.381+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||5/13|XM_047441134.1:c.465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||4/13|XM_047441135.1:c.381+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||5/14|XM_047441136.1:c.465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||4/13|XM_047441137.1:c.381+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs560219761|1875|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29227727del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||5/16|XR_937808.4:n.608+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||5/10|XR_937810.4:n.608+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A|||22|chr22:g.29227727del|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|-15|32|-23|-27;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14734;gnomADv4_1_AC_joint_XX=8062;gnomADv4_1_AC_joint_XY=6672;gnomADv4_1_AF_grpmax_joint=0.207373;gnomADv4_1_AF_joint=0.165398;gnomADv4_1_AF_joint_XX=0.165327;gnomADv4_1_AF_joint_XY=0.165484;gnomADv4_1_AN_grpmax_joint=22650;gnomADv4_1_AN_joint=89082;gnomADv4_1_AN_joint_XX=48764;gnomADv4_1_AN_joint_XY=40318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=701;gnomADv4_1_nhomalt_joint_XX=388;gnomADv4_1_nhomalt_joint_XY=313;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29227704 chr22_29227704_CA_C;chr22_29227704_CAAA_C CAAA C 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=11;CADDIndel_PHREDscore=1.457;CADDIndel_Rawscore=0.080541;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||5/14|ENST00000334018.11:c.465+1174_465+1176del|||||||rs560219761||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||5/13|ENST00000404755.7:c.465+1174_465+1176del|||||||rs560219761||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||5/14|ENST00000404820.7:c.465+1174_465+1176del|||||||rs560219761||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||5/6|ENST00000429226.5:c.465+1174_465+1176del|||||||rs560219761||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||4/5|ENST00000430127.1:c.381+1174_381+1176del|||||||rs560219761||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs560219761|3311|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||AAA|AAA||||chr22:g.29227725_29227727del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-3295_102-3293del|||||||rs560219761||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs560219761|3975|1||HGNC|HGNC:18036|1||||||||Ensembl||AAA|AAA||||chr22:g.29227725_29227727del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||3/7|ENST00000484039.5:n.268+1174_268+1176del|||||||rs560219761||1||HGNC|HGNC:18036|5||||||||Ensembl||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs560219761|4629|1||HGNC|HGNC:18036|3||||||||Ensembl||AAA|AAA||||chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||5/14|NM_001267895.2:c.459+1174_459+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||5/14|NM_001410828.1:c.465+1174_465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||5/14|NM_133455.4:c.465+1174_465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||4/13|XM_005261329.4:c.381+1174_381+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||5/15|XM_011529868.4:c.465+1174_465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||5/15|XM_011529869.4:c.465+1174_465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||5/14|XM_011529870.4:c.465+1174_465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||4/14|XM_011529871.4:c.381+1174_381+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||5/15|XM_011529872.4:c.465+1174_465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||5/15|XM_011529873.4:c.465+1174_465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-3295_1-3293del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs560219761|3359|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||AAA|AAA||||chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||4/14|XM_047441133.1:c.381+1174_381+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||5/13|XM_047441134.1:c.465+1174_465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||4/13|XM_047441135.1:c.381+1174_381+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||5/14|XM_047441136.1:c.465+1174_465+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||4/13|XM_047441137.1:c.381+1174_381+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs560219761|1875|-1||EntrezGene||||||||||RefSeq||AAA|AAA||||chr22:g.29227725_29227727del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||5/16|XR_937808.4:n.608+1174_608+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||5/10|XR_937810.4:n.608+1174_608+1176del|||||||rs560219761||1||EntrezGene|HGNC:18036|||||||||RefSeq||AAA|AAA|||20|chr22:g.29227725_29227727del|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|32|-23|-23|-27;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19500;gnomADv4_1_AC_joint_XX=10839;gnomADv4_1_AC_joint_XY=8661;gnomADv4_1_AF_grpmax_joint=0.421875;gnomADv4_1_AF_joint=0.221566;gnomADv4_1_AF_joint_XX=0.225128;gnomADv4_1_AF_joint_XY=0.217264;gnomADv4_1_AN_grpmax_joint=128;gnomADv4_1_AN_joint=88010;gnomADv4_1_AN_joint_XX=48146;gnomADv4_1_AN_joint_XY=39864;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=933;gnomADv4_1_nhomalt_joint_XX=481;gnomADv4_1_nhomalt_joint_XY=452;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29228051 chr22_29228051_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=3.598;CADD_Rawscore=0.329468;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||5/14|ENST00000334018.11:c.465+1500G>A|||||||rs112916224||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||5/13|ENST00000404755.7:c.465+1500G>A|||||||rs112916224||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||5/14|ENST00000404820.7:c.465+1500G>A|||||||rs112916224||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||5/6|ENST00000429226.5:c.465+1500G>A|||||||rs112916224||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||4/5|ENST00000430127.1:c.381+1500G>A|||||||rs112916224||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29228051G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs112916224|2967|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-2969G>A|||||||rs112916224||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29228051G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs112916224|3631|1||HGNC|HGNC:18036|1||||||||Ensembl||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||3/7|ENST00000484039.5:n.268+1500G>A|||||||rs112916224||1||HGNC|HGNC:18036|5||||||||Ensembl||G|G||||chr22:g.29228051G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs112916224|4285|1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||5/14|NM_001267895.2:c.459+1500G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||5/14|NM_001410828.1:c.465+1500G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||5/14|NM_133455.4:c.465+1500G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||4/13|XM_005261329.4:c.381+1500G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||5/15|XM_011529868.4:c.465+1500G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||5/15|XM_011529869.4:c.465+1500G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||5/14|XM_011529870.4:c.465+1500G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||4/14|XM_011529871.4:c.381+1500G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||5/15|XM_011529872.4:c.465+1500G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||5/15|XM_011529873.4:c.465+1500G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-2969G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs112916224|3015|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||4/14|XM_047441133.1:c.381+1500G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||5/13|XM_047441134.1:c.465+1500G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||4/13|XM_047441135.1:c.381+1500G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||5/14|XM_047441136.1:c.465+1500G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||4/13|XM_047441137.1:c.381+1500G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs112916224|2221|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||5/16|XR_937808.4:n.608+1500G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||5/10|XR_937810.4:n.608+1500G>A|||||||rs112916224||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29228051G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|-40|9|46|-46;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14434;gnomADv4_1_AC_joint_XX=7224;gnomADv4_1_AC_joint_XY=7210;gnomADv4_1_AF_grpmax_joint=0.147457;gnomADv4_1_AF_joint=0.095003;gnomADv4_1_AF_joint_XX=0.0929897;gnomADv4_1_AF_joint_XY=0.0971096;gnomADv4_1_AN_grpmax_joint=41402;gnomADv4_1_AN_joint=151932;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74246;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=819;gnomADv4_1_nhomalt_joint_XX=396;gnomADv4_1_nhomalt_joint_XY=423;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29228156 chr22_29228156_C_CA C CA 21 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=21;CADDIndel_PHREDscore=1.587;CADDIndel_Rawscore=0.102879;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||5/14|ENST00000334018.11:c.465+1626dup|||||||rs748240529||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||5/13|ENST00000404755.7:c.465+1626dup|||||||rs748240529||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||5/14|ENST00000404820.7:c.465+1626dup|||||||rs748240529||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||5/6|ENST00000429226.5:c.465+1626dup|||||||rs748240529||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||4/5|ENST00000430127.1:c.381+1626dup|||||||rs748240529||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||||||21|chr22:g.29228177dup|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs748240529|2861|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl|||||||chr22:g.29228177dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-2843dup|||||||rs748240529||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||||||21|chr22:g.29228177dup|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs748240529|3525|1||HGNC|HGNC:18036|1||||||||Ensembl|||||||chr22:g.29228177dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||3/7|ENST00000484039.5:n.268+1626dup|||||||rs748240529||1||HGNC|HGNC:18036|5||||||||Ensembl||||||21|chr22:g.29228177dup|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs748240529|4179|1||HGNC|HGNC:18036|3||||||||Ensembl|||||||chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||5/14|NM_001267895.2:c.459+1626dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||5/14|NM_001410828.1:c.465+1626dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||5/14|NM_133455.4:c.465+1626dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||4/13|XM_005261329.4:c.381+1626dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||5/15|XM_011529868.4:c.465+1626dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||5/15|XM_011529869.4:c.465+1626dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||5/14|XM_011529870.4:c.465+1626dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||4/14|XM_011529871.4:c.381+1626dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||5/15|XM_011529872.4:c.465+1626dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||5/15|XM_011529873.4:c.465+1626dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-2843dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs748240529|2909|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq|||||||chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||4/14|XM_047441133.1:c.381+1626dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||5/13|XM_047441134.1:c.465+1626dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||4/13|XM_047441135.1:c.381+1626dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||5/14|XM_047441136.1:c.465+1626dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||4/13|XM_047441137.1:c.381+1626dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs748240529|2326|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29228177dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||5/16|XR_937808.4:n.608+1626dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||5/10|XR_937810.4:n.608+1626dup|||||||rs748240529||1||EntrezGene|HGNC:18036|||||||||RefSeq||||||21|chr22:g.29228177dup|||||||||||||;SpliceAI=CA|EMID1|0.00|0.00|0.00|0.00|31|4|41|42;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4631;gnomADv4_1_AC_joint_XX=2487;gnomADv4_1_AC_joint_XY=2144;gnomADv4_1_AF_grpmax_joint=0.267913;gnomADv4_1_AF_joint=0.119362;gnomADv4_1_AF_joint_XX=0.120436;gnomADv4_1_AF_joint_XY=0.11814;gnomADv4_1_AN_grpmax_joint=11612;gnomADv4_1_AN_joint=38798;gnomADv4_1_AN_joint_XX=20650;gnomADv4_1_AN_joint_XY=18148;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=444;gnomADv4_1_nhomalt_joint_XX=222;gnomADv4_1_nhomalt_joint_XY=222;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29229643 chr22_29229643_C_CA C CA 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=35;CADDIndel_PHREDscore=0.334;CADDIndel_Rawscore=-0.294438;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||5/14|ENST00000334018.11:c.466-1361dup|||||||rs34973149||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||5/13|ENST00000404755.7:c.466-1361dup|||||||rs34973149||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||5/14|ENST00000404820.7:c.466-1361dup|||||||rs34973149||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||5/6|ENST00000429226.5:c.466-1361dup|||||||rs34973149||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||4/5|ENST00000430127.1:c.382-1361dup|||||||rs34973149||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||||||16|chr22:g.29229659dup|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs34973149|1374|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl|||||||chr22:g.29229659dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-1361dup|||||||rs34973149||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||||||16|chr22:g.29229659dup|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs34973149|2038|1||HGNC|HGNC:18036|1||||||||Ensembl|||||||chr22:g.29229659dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||3/7|ENST00000484039.5:n.269-1361dup|||||||rs34973149||1||HGNC|HGNC:18036|5||||||||Ensembl||||||16|chr22:g.29229659dup|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs34973149|3702|1||HGNC|HGNC:18036|2||||||||Ensembl|||||||chr22:g.29229659dup|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs34973149|2692|1||HGNC|HGNC:18036|3||||||||Ensembl|||||||chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||5/14|NM_001267895.2:c.460-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||5/14|NM_001410828.1:c.466-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||5/14|NM_133455.4:c.466-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||4/13|XM_005261329.4:c.382-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||5/15|XM_011529868.4:c.466-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||5/15|XM_011529869.4:c.466-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||5/14|XM_011529870.4:c.466-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||4/14|XM_011529871.4:c.382-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||5/15|XM_011529872.4:c.466-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||5/15|XM_011529873.4:c.466-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs34973149|1422|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq|||||||chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||4/14|XM_047441133.1:c.382-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||5/13|XM_047441134.1:c.466-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||4/13|XM_047441135.1:c.382-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||5/14|XM_047441136.1:c.466-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||4/13|XM_047441137.1:c.382-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs34973149|3813|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29229659dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||5/16|XR_937808.4:n.609-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||5/10|XR_937810.4:n.609-1361dup|||||||rs34973149||1||EntrezGene|HGNC:18036|||||||||RefSeq||||||16|chr22:g.29229659dup|||||||||||||;SpliceAI=CA|EMID1|0.00|0.00|0.00|0.00|18|-28|-28|-35;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77540;gnomADv4_1_AC_joint_XX=41111;gnomADv4_1_AC_joint_XY=36429;gnomADv4_1_AF_grpmax_joint=0.677692;gnomADv4_1_AF_joint=0.611562;gnomADv4_1_AF_joint_XX=0.61795;gnomADv4_1_AF_joint_XY=0.60451;gnomADv4_1_AN_grpmax_joint=61376;gnomADv4_1_AN_joint=126790;gnomADv4_1_AN_joint_XX=66528;gnomADv4_1_AN_joint_XY=60262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=22990;gnomADv4_1_nhomalt_joint_XX=12308;gnomADv4_1_nhomalt_joint_XY=10682;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29229922 chr22_29229922_G_A G A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.959;CADD_Rawscore=-0.028736;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||5/14|ENST00000334018.11:c.466-1098G>A|||||||rs713992||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||5/13|ENST00000404755.7:c.466-1098G>A|||||||rs713992||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||5/14|ENST00000404820.7:c.466-1098G>A|||||||rs713992||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||5/6|ENST00000429226.5:c.466-1098G>A|||||||rs713992||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||4/5|ENST00000430127.1:c.382-1098G>A|||||||rs713992||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29229922G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs713992|1096|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-1098G>A|||||||rs713992||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29229922G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs713992|1760|1||HGNC|HGNC:18036|1||||||||Ensembl||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||3/7|ENST00000484039.5:n.269-1098G>A|||||||rs713992||1||HGNC|HGNC:18036|5||||||||Ensembl||G|G||||chr22:g.29229922G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs713992|3424|1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29229922G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs713992|2414|1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||5/14|NM_001267895.2:c.460-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||5/14|NM_001410828.1:c.466-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||5/14|NM_133455.4:c.466-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||4/13|XM_005261329.4:c.382-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||5/15|XM_011529868.4:c.466-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||5/15|XM_011529869.4:c.466-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||5/14|XM_011529870.4:c.466-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||4/14|XM_011529871.4:c.382-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||5/15|XM_011529872.4:c.466-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||5/15|XM_011529873.4:c.466-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs713992|1144|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||4/14|XM_047441133.1:c.382-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||5/13|XM_047441134.1:c.466-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||4/13|XM_047441135.1:c.382-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||5/14|XM_047441136.1:c.466-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||4/13|XM_047441137.1:c.382-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs713992|4092|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||5/16|XR_937808.4:n.609-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||5/10|XR_937810.4:n.609-1098G>A|||||||rs713992||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29229922G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|4|1|-27|1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=110314;gnomADv4_1_AC_joint_XX=56962;gnomADv4_1_AC_joint_XY=53352;gnomADv4_1_AF_grpmax_joint=0.835848;gnomADv4_1_AF_joint=0.725168;gnomADv4_1_AF_joint_XX=0.732479;gnomADv4_1_AF_joint_XY=0.717521;gnomADv4_1_AN_grpmax_joint=41498;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=40645;gnomADv4_1_nhomalt_joint_XX=21152;gnomADv4_1_nhomalt_joint_XY=19493;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29230201 chr22_29230201_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.248;CADD_Rawscore=0.039968;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||5/14|ENST00000334018.11:c.466-819C>T|||||||rs2009159||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||5/13|ENST00000404755.7:c.466-819C>T|||||||rs2009159||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||5/14|ENST00000404820.7:c.466-819C>T|||||||rs2009159||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||5/6|ENST00000429226.5:c.466-819C>T|||||||rs2009159||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||4/5|ENST00000430127.1:c.382-819C>T|||||||rs2009159||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29230201C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs2009159|817|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-819C>T|||||||rs2009159||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29230201C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs2009159|1481|1||HGNC|HGNC:18036|1||||||||Ensembl||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||3/7|ENST00000484039.5:n.269-819C>T|||||||rs2009159||1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29230201C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs2009159|3145|1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29230201C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs2009159|2135|1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||5/14|NM_001267895.2:c.460-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||5/14|NM_001410828.1:c.466-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||5/14|NM_133455.4:c.466-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||4/13|XM_005261329.4:c.382-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||5/15|XM_011529868.4:c.466-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||5/15|XM_011529869.4:c.466-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||5/14|XM_011529870.4:c.466-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||4/14|XM_011529871.4:c.382-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||5/15|XM_011529872.4:c.466-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||5/15|XM_011529873.4:c.466-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs2009159|865|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||4/14|XM_047441133.1:c.382-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||5/13|XM_047441134.1:c.466-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||4/13|XM_047441135.1:c.382-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||5/14|XM_047441136.1:c.466-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||4/13|XM_047441137.1:c.382-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs2009159|4371|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||5/16|XR_937808.4:n.609-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||5/10|XR_937810.4:n.609-819C>T|||||||rs2009159||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29230201C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|19|-13|-50|-13;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14778;gnomADv4_1_AC_joint_XX=7419;gnomADv4_1_AC_joint_XY=7359;gnomADv4_1_AF_grpmax_joint=0.156273;gnomADv4_1_AF_joint=0.097184;gnomADv4_1_AF_joint_XX=0.095431;gnomADv4_1_AF_joint_XY=0.0990178;gnomADv4_1_AN_grpmax_joint=41466;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=878;gnomADv4_1_nhomalt_joint_XX=435;gnomADv4_1_nhomalt_joint_XY=443;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29230336 chr22_29230336_GA_G GA G 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=0.056;CADDIndel_Rawscore=-0.770436;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||5/14|ENST00000334018.11:c.466-672del|||||||rs35728607||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||5/13|ENST00000404755.7:c.466-672del|||||||rs35728607||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||5/14|ENST00000404820.7:c.466-672del|||||||rs35728607||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||5/6|ENST00000429226.5:c.466-672del|||||||rs35728607||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||4/5|ENST00000430127.1:c.382-672del|||||||rs35728607||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A|||11|chr22:g.29230348del|||||||||||||,-|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs35728607|681|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||A|A||||chr22:g.29230348del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-672del|||||||rs35728607||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A|||11|chr22:g.29230348del|||||||||||||,-|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs35728607|1345|1||HGNC|HGNC:18036|1||||||||Ensembl||A|A||||chr22:g.29230348del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||3/7|ENST00000484039.5:n.269-672del|||||||rs35728607||1||HGNC|HGNC:18036|5||||||||Ensembl||A|A|||11|chr22:g.29230348del|||||||||||||,-|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs35728607|3009|1||HGNC|HGNC:18036|2||||||||Ensembl||A|A||||chr22:g.29230348del|||||||||||||,-|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs35728607|1999|1||HGNC|HGNC:18036|3||||||||Ensembl||A|A||||chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||5/14|NM_001267895.2:c.460-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||5/14|NM_001410828.1:c.466-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||5/14|NM_133455.4:c.466-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||4/13|XM_005261329.4:c.382-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||5/15|XM_011529868.4:c.466-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||5/15|XM_011529869.4:c.466-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||5/14|XM_011529870.4:c.466-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||4/14|XM_011529871.4:c.382-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||5/15|XM_011529872.4:c.466-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||5/15|XM_011529873.4:c.466-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||,-|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs35728607|729|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||A|A||||chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||4/14|XM_047441133.1:c.382-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||5/13|XM_047441134.1:c.466-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||4/13|XM_047441135.1:c.382-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||5/14|XM_047441136.1:c.466-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||4/13|XM_047441137.1:c.382-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||,-|upstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs35728607|4507|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29230348del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||5/16|XR_937808.4:n.609-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||5/10|XR_937810.4:n.609-672del|||||||rs35728607||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A|||11|chr22:g.29230348del|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|44|30|28|-31;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90895;gnomADv4_1_AC_joint_XX=47274;gnomADv4_1_AC_joint_XY=43621;gnomADv4_1_AF_grpmax_joint=0.634899;gnomADv4_1_AF_joint=0.617049;gnomADv4_1_AF_joint_XX=0.624739;gnomADv4_1_AF_joint_XY=0.608926;gnomADv4_1_AN_grpmax_joint=40156;gnomADv4_1_AN_joint=147306;gnomADv4_1_AN_joint_XX=75670;gnomADv4_1_AN_joint_XY=71636;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=27756;gnomADv4_1_nhomalt_joint_XX=14607;gnomADv4_1_nhomalt_joint_XY=13149;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29230338 chr22_29230338_A_G A G 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.523;CADD_Rawscore=-0.182113;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||5/14|ENST00000334018.11:c.466-682A>G|||||||rs116022692||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||5/13|ENST00000404755.7:c.466-682A>G|||||||rs116022692||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||5/14|ENST00000404820.7:c.466-682A>G|||||||rs116022692||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||5/6|ENST00000429226.5:c.466-682A>G|||||||rs116022692||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||4/5|ENST00000430127.1:c.382-682A>G|||||||rs116022692||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A||||chr22:g.29230338A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs116022692|680|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-682A>G|||||||rs116022692||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29230338A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs116022692|1344|1||HGNC|HGNC:18036|1||||||||Ensembl||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||3/7|ENST00000484039.5:n.269-682A>G|||||||rs116022692||1||HGNC|HGNC:18036|5||||||||Ensembl||A|A||||chr22:g.29230338A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs116022692|3008|1||HGNC|HGNC:18036|2||||||||Ensembl||A|A||||chr22:g.29230338A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs116022692|1998|1||HGNC|HGNC:18036|3||||||||Ensembl||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||5/14|NM_001267895.2:c.460-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||5/14|NM_001410828.1:c.466-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||5/14|NM_133455.4:c.466-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||4/13|XM_005261329.4:c.382-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||5/15|XM_011529868.4:c.466-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||5/15|XM_011529869.4:c.466-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||5/14|XM_011529870.4:c.466-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||4/14|XM_011529871.4:c.382-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||5/15|XM_011529872.4:c.466-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||5/15|XM_011529873.4:c.466-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs116022692|728|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||4/14|XM_047441133.1:c.382-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||5/13|XM_047441134.1:c.466-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||4/13|XM_047441135.1:c.382-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||5/14|XM_047441136.1:c.466-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||4/13|XM_047441137.1:c.382-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs116022692|4508|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||5/16|XR_937808.4:n.609-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||5/10|XR_937810.4:n.609-682A>G|||||||rs116022692||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29230338A>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|42|28|26|-16;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70113;gnomADv4_1_AC_joint_XX=36586;gnomADv4_1_AC_joint_XY=33527;gnomADv4_1_AF_grpmax_joint=0.594775;gnomADv4_1_AF_joint=0.544212;gnomADv4_1_AF_joint_XX=0.553478;gnomADv4_1_AF_joint_XY=0.534448;gnomADv4_1_AN_grpmax_joint=64110;gnomADv4_1_AN_joint=128834;gnomADv4_1_AN_joint_XX=66102;gnomADv4_1_AN_joint_XY=62732;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=17529;gnomADv4_1_nhomalt_joint_XX=9272;gnomADv4_1_nhomalt_joint_XY=8257;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29230526 chr22_29230526_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.077;CADD_Rawscore=-0.682569;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||5/14|ENST00000334018.11:c.466-494G>A|||||||rs111625211||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||5/13|ENST00000404755.7:c.466-494G>A|||||||rs111625211||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||5/14|ENST00000404820.7:c.466-494G>A|||||||rs111625211||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||5/6|ENST00000429226.5:c.466-494G>A|||||||rs111625211||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||4/5|ENST00000430127.1:c.382-494G>A|||||||rs111625211||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29230526G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs111625211|492|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-494G>A|||||||rs111625211||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29230526G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs111625211|1156|1||HGNC|HGNC:18036|1||||||||Ensembl||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||3/7|ENST00000484039.5:n.269-494G>A|||||||rs111625211||1||HGNC|HGNC:18036|5||||||||Ensembl||G|G||||chr22:g.29230526G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs111625211|2820|1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29230526G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs111625211|1810|1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||5/14|NM_001267895.2:c.460-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||5/14|NM_001410828.1:c.466-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||5/14|NM_133455.4:c.466-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||4/13|XM_005261329.4:c.382-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||5/15|XM_011529868.4:c.466-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||5/15|XM_011529869.4:c.466-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||5/14|XM_011529870.4:c.466-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||4/14|XM_011529871.4:c.382-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||5/15|XM_011529872.4:c.466-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||5/15|XM_011529873.4:c.466-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs111625211|540|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||4/14|XM_047441133.1:c.382-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||5/13|XM_047441134.1:c.466-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||4/13|XM_047441135.1:c.382-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||5/14|XM_047441136.1:c.466-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||4/13|XM_047441137.1:c.382-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs111625211|4696|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||5/16|XR_937808.4:n.609-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||5/10|XR_937810.4:n.609-494G>A|||||||rs111625211||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29230526G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|47|-23|-23|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8404;gnomADv4_1_AC_joint_XX=4058;gnomADv4_1_AC_joint_XY=4346;gnomADv4_1_AF_grpmax_joint=0.0743567;gnomADv4_1_AF_joint=0.0551972;gnomADv4_1_AF_joint_XX=0.0521487;gnomADv4_1_AF_joint_XY=0.0583842;gnomADv4_1_AN_grpmax_joint=68010;gnomADv4_1_AN_joint=152254;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=342;gnomADv4_1_nhomalt_joint_XX=152;gnomADv4_1_nhomalt_joint_XY=190;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29230624 chr22_29230624_C_T C T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.907;CADD_Rawscore=0.356986;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||5/14|ENST00000334018.11:c.466-396C>T|||||||rs3765294||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||5/13|ENST00000404755.7:c.466-396C>T|||||||rs3765294||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||5/14|ENST00000404820.7:c.466-396C>T|||||||rs3765294||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||5/6|ENST00000429226.5:c.466-396C>T|||||||rs3765294||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||4/5|ENST00000430127.1:c.382-396C>T|||||||rs3765294||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29230624C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs3765294|394|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-396C>T|||||||rs3765294||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29230624C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs3765294|1058|1||HGNC|HGNC:18036|1||||||||Ensembl||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||3/7|ENST00000484039.5:n.269-396C>T|||||||rs3765294||1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29230624C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs3765294|2722|1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29230624C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs3765294|1712|1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||5/14|NM_001267895.2:c.460-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||5/14|NM_001410828.1:c.466-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||5/14|NM_133455.4:c.466-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||4/13|XM_005261329.4:c.382-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||5/15|XM_011529868.4:c.466-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||5/15|XM_011529869.4:c.466-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||5/14|XM_011529870.4:c.466-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||4/14|XM_011529871.4:c.382-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||5/15|XM_011529872.4:c.466-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||5/15|XM_011529873.4:c.466-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs3765294|442|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||4/14|XM_047441133.1:c.382-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||5/13|XM_047441134.1:c.466-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||4/13|XM_047441135.1:c.382-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||5/14|XM_047441136.1:c.466-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||4/13|XM_047441137.1:c.382-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs3765294|4794|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||5/16|XR_937808.4:n.609-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||5/10|XR_937810.4:n.609-396C>T|||||||rs3765294||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29230624C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|48|26|41|48;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=110225;gnomADv4_1_AC_joint_XX=56914;gnomADv4_1_AC_joint_XY=53311;gnomADv4_1_AF_grpmax_joint=0.835638;gnomADv4_1_AF_joint=0.724764;gnomADv4_1_AF_joint_XX=0.732126;gnomADv4_1_AF_joint_XY=0.717066;gnomADv4_1_AN_grpmax_joint=41518;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=40590;gnomADv4_1_nhomalt_joint_XX=21121;gnomADv4_1_nhomalt_joint_XY=19469;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29230813 chr22_29230813_A_G A G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.862;CADD_Rawscore=-0.056002;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||5/14|ENST00000334018.11:c.466-207A>G|||||||rs3765296||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||5/13|ENST00000404755.7:c.466-207A>G|||||||rs3765296||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||5/14|ENST00000404820.7:c.466-207A>G|||||||rs3765296||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||5/6|ENST00000429226.5:c.466-207A>G|||||||rs3765296||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||4/5|ENST00000430127.1:c.382-207A>G|||||||rs3765296||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A||||chr22:g.29230813A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs3765296|205|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||1/3|ENST00000435427.5:c.102-207A>G|||||||rs3765296||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29230813A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs3765296|869|1||HGNC|HGNC:18036|1||||||||Ensembl||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||3/7|ENST00000484039.5:n.269-207A>G|||||||rs3765296||1||HGNC|HGNC:18036|5||||||||Ensembl||A|A||||chr22:g.29230813A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs3765296|2533|1||HGNC|HGNC:18036|2||||||||Ensembl||A|A||||chr22:g.29230813A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs3765296|1523|1||HGNC|HGNC:18036|3||||||||Ensembl||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||5/14|NM_001267895.2:c.460-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||5/14|NM_001410828.1:c.466-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||5/14|NM_133455.4:c.466-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||4/13|XM_005261329.4:c.382-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||5/15|XM_011529868.4:c.466-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||5/15|XM_011529869.4:c.466-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||5/14|XM_011529870.4:c.466-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||4/14|XM_011529871.4:c.382-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||5/15|XM_011529872.4:c.466-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||5/15|XM_011529873.4:c.466-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||1/11|XM_011529875.2:c.1-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs3765296|253|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||4/14|XM_047441133.1:c.382-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||5/13|XM_047441134.1:c.466-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||4/13|XM_047441135.1:c.382-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||5/14|XM_047441136.1:c.466-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||4/13|XM_047441137.1:c.382-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC105372985|105372985|Transcript|XR_001755481.2|lncRNA||||||||||rs3765296|4983|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||5/16|XR_937808.4:n.609-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||5/10|XR_937810.4:n.609-207A>G|||||||rs3765296||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29230813A>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|30|2|-1|1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_001755481.2,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,105372985,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,LOC105372985,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96451;gnomADv4_1_AC_joint_XX=50039;gnomADv4_1_AC_joint_XY=46412;gnomADv4_1_AF_grpmax_joint=0.699913;gnomADv4_1_AF_joint=0.634337;gnomADv4_1_AF_joint_XX=0.643638;gnomADv4_1_AF_joint_XY=0.624606;gnomADv4_1_AN_grpmax_joint=41498;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31032;gnomADv4_1_nhomalt_joint_XX=16262;gnomADv4_1_nhomalt_joint_XY=14770;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29231547 chr22_29231547_C_G C G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.034;CADD_Rawscore=0.277693;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||6/14|ENST00000334018.11:c.587-46C>G|||||||rs112034362||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||6/13|ENST00000404755.7:c.587-46C>G|||||||rs112034362||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||6/14|ENST00000404820.7:c.587-46C>G|||||||rs112034362||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||6/6|ENST00000429226.5:c.586+407C>G|||||||rs112034362||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||5/5|ENST00000430127.1:c.503-46C>G|||||||rs112034362||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||2/8|ENST00000433143.1:c.174+39C>G|||||||rs112034362||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||2/3|ENST00000435427.5:c.*118-46C>G|||||||rs112034362||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29231547C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs112034362|135|1||HGNC|HGNC:18036|1||||||||Ensembl||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||4/7|ENST00000484039.5:n.390-46C>G|||||||rs112034362||1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29231547C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs112034362|1799|1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29231547C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs112034362|789|1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||6/14|NM_001267895.2:c.581-46C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||6/14|NM_001410828.1:c.587-46C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||6/14|NM_133455.4:c.587-46C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||5/13|XM_005261329.4:c.503-46C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||7/15|XM_011529868.4:c.637+39C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||7/15|XM_011529869.4:c.637+39C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||7/14|XM_011529870.4:c.637+39C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||6/14|XM_011529871.4:c.553+39C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||7/15|XM_011529872.4:c.637+39C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||7/15|XM_011529873.4:c.637+39C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||3/11|XM_011529875.2:c.172+39C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||3/11|XM_011529876.2:c.100+39C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||6/14|XM_047441133.1:c.553+39C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||6/13|XM_047441134.1:c.587-46C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||5/13|XM_047441135.1:c.503-46C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||6/14|XM_047441136.1:c.587-46C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||5/13|XM_047441137.1:c.503-46C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||7/16|XR_937808.4:n.780+39C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||7/10|XR_937810.4:n.780+39C>G|||||||rs112034362||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29231547C>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|46|24|-39|-29;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=125858;gnomADv4_1_AC_joint_XX=64148;gnomADv4_1_AC_joint_XY=61710;gnomADv4_1_AF_grpmax_joint=0.146642;gnomADv4_1_AF_joint=0.081691;gnomADv4_1_AF_joint_XX=0.0821429;gnomADv4_1_AF_joint_XY=0.0812264;gnomADv4_1_AN_grpmax_joint=72892;gnomADv4_1_AN_joint=1540660;gnomADv4_1_AN_joint_XX=780932;gnomADv4_1_AN_joint_XY=759728;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5873;gnomADv4_1_nhomalt_joint_XX=2987;gnomADv4_1_nhomalt_joint_XY=2886;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29232107 chr22_29232107_C_G C G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=6.067;CADD_Rawscore=0.56002;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||7/14|ENST00000334018.11:c.677-149C>G|||||||rs3817839||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||7/13|ENST00000404755.7:c.677-149C>G|||||||rs3817839||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||7/14|ENST00000404820.7:c.677-149C>G|||||||rs3817839||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||6/6|ENST00000429226.5:c.586+967C>G|||||||rs3817839||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29232107C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs3817839|492|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||3/8|ENST00000433143.1:c.265-149C>G|||||||rs3817839||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||3/3|ENST00000435427.5:c.*208-149C>G|||||||rs3817839||1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29232107C>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron|1/2||ENST00000473933.1:n.426C>G||426|||||rs3817839||1||HGNC|HGNC:18036|1||||||||Ensembl||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||5/7|ENST00000484039.5:n.480-149C>G|||||||rs3817839||1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29232107C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs3817839|1239|1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29232107C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs3817839|229|1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||7/14|NM_001267895.2:c.671-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||7/14|NM_001410828.1:c.677-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||7/14|NM_133455.4:c.677-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||6/13|XM_005261329.4:c.593-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||8/15|XM_011529868.4:c.728-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||8/15|XM_011529869.4:c.728-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||8/14|XM_011529870.4:c.728-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||7/14|XM_011529871.4:c.644-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||8/15|XM_011529872.4:c.728-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||8/15|XM_011529873.4:c.728-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||4/11|XM_011529875.2:c.263-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||4/11|XM_011529876.2:c.191-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||7/14|XM_047441133.1:c.644-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||7/13|XM_047441134.1:c.677-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||6/13|XM_047441135.1:c.593-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||7/14|XM_047441136.1:c.677-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||6/13|XM_047441137.1:c.593-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||8/16|XR_937808.4:n.871-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||8/10|XR_937810.4:n.871-149C>G|||||||rs3817839||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29232107C>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|-47|9|25|-16;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=242744;gnomADv4_1_AC_joint_XX=115477;gnomADv4_1_AC_joint_XY=127267;gnomADv4_1_AF_grpmax_joint=0.56867;gnomADv4_1_AF_joint=0.305044;gnomADv4_1_AF_joint_XX=0.29964;gnomADv4_1_AF_joint_XY=0.310118;gnomADv4_1_AN_grpmax_joint=38576;gnomADv4_1_AN_joint=795768;gnomADv4_1_AN_joint_XX=385386;gnomADv4_1_AN_joint_XY=410382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=39876;gnomADv4_1_nhomalt_joint_XX=18567;gnomADv4_1_nhomalt_joint_XY=21309;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29232626 chr22_29232626_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.042;CADD_Rawscore=-0.845118;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||8/14|ENST00000334018.11:c.823+224G>A|||||||rs1003703||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||8/13|ENST00000404755.7:c.823+224G>A|||||||rs1003703||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||8/14|ENST00000404820.7:c.823+224G>A|||||||rs1003703||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||6/6|ENST00000429226.5:c.587-753G>A|||||||rs1003703||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29232626G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs1003703|1011|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||4/8|ENST00000433143.1:c.411+224G>A|||||||rs1003703||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||G|G||||chr22:g.29232626G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs1003703|281|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29232626G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron|1/2||ENST00000473933.1:n.945G>A||945|||||rs1003703||1||HGNC|HGNC:18036|1||||||||Ensembl||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||6/7|ENST00000484039.5:n.626+224G>A|||||||rs1003703||1||HGNC|HGNC:18036|5||||||||Ensembl||G|G||||chr22:g.29232626G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs1003703|720|1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||1/7|ENST00000488820.6:n.67+224G>A|||||||rs1003703||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||8/14|NM_001267895.2:c.817+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||8/14|NM_001410828.1:c.823+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||8/14|NM_133455.4:c.823+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||7/13|XM_005261329.4:c.739+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||9/15|XM_011529868.4:c.874+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||9/15|XM_011529869.4:c.874+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||9/14|XM_011529870.4:c.874+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||8/14|XM_011529871.4:c.790+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||9/15|XM_011529872.4:c.874+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||9/15|XM_011529873.4:c.874+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||5/11|XM_011529875.2:c.409+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||5/11|XM_011529876.2:c.337+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||8/14|XM_047441133.1:c.790+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||8/13|XM_047441134.1:c.823+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||7/13|XM_047441135.1:c.739+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||8/14|XM_047441136.1:c.823+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||7/13|XM_047441137.1:c.739+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||9/16|XR_937808.4:n.1017+224G>A|||||||rs1003703||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA|10/11||XR_937810.4:n.1077G>A||1077|||||rs1003703||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29232626G>A|||||||||||||;SpliceAI=A|EMID1|0.01|0.00|0.00|0.00|35|4|24|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=157595;gnomADv4_1_AC_joint_XX=75665;gnomADv4_1_AC_joint_XY=81930;gnomADv4_1_AF_grpmax_joint=0.573816;gnomADv4_1_AF_joint=0.299297;gnomADv4_1_AF_joint_XX=0.292975;gnomADv4_1_AF_joint_XY=0.305383;gnomADv4_1_AN_grpmax_joint=30156;gnomADv4_1_AN_joint=526550;gnomADv4_1_AN_joint_XX=258264;gnomADv4_1_AN_joint_XY=268286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=25884;gnomADv4_1_nhomalt_joint_XX=12142;gnomADv4_1_nhomalt_joint_XY=13742;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29232752 chr22_29232752_C_T C T 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.839;CADD_Rawscore=-0.062858;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||8/14|ENST00000334018.11:c.823+350C>T|||||||rs1997719||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||8/13|ENST00000404755.7:c.823+350C>T|||||||rs1997719||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||8/14|ENST00000404820.7:c.823+350C>T|||||||rs1997719||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||6/6|ENST00000429226.5:c.587-627C>T|||||||rs1997719||1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29232752C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs1997719|1137|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||4/8|ENST00000433143.1:c.411+350C>T|||||||rs1997719||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||C|C||||chr22:g.29232752C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs1997719|407|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29232752C>T|||1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron|1/2||ENST00000473933.1:n.1071C>T||1071|||||rs1997719||1||HGNC|HGNC:18036|1||||||||Ensembl||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||6/7|ENST00000484039.5:n.626+350C>T|||||||rs1997719||1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29232752C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs1997719|594|1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||1/7|ENST00000488820.6:n.67+350C>T|||||||rs1997719||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||8/14|NM_001267895.2:c.817+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||8/14|NM_001410828.1:c.823+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||8/14|NM_133455.4:c.823+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||7/13|XM_005261329.4:c.739+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||9/15|XM_011529868.4:c.874+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||9/15|XM_011529869.4:c.874+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||9/14|XM_011529870.4:c.874+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||8/14|XM_011529871.4:c.790+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||9/15|XM_011529872.4:c.874+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||9/15|XM_011529873.4:c.874+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||5/11|XM_011529875.2:c.409+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||5/11|XM_011529876.2:c.337+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||8/14|XM_047441133.1:c.790+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||8/13|XM_047441134.1:c.823+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||7/13|XM_047441135.1:c.739+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||8/14|XM_047441136.1:c.823+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||7/13|XM_047441137.1:c.739+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||9/16|XR_937808.4:n.1017+350C>T|||||||rs1997719||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA|10/11||XR_937810.4:n.1203C>T||1203|||||rs1997719||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29232752C>T|||1||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|-15|-28|9|11;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70912;gnomADv4_1_AC_joint_XX=36155;gnomADv4_1_AC_joint_XY=34757;gnomADv4_1_AF_grpmax_joint=0.480707;gnomADv4_1_AF_joint=0.318437;gnomADv4_1_AF_joint_XX=0.322691;gnomADv4_1_AF_joint_XY=0.314128;gnomADv4_1_AN_grpmax_joint=622;gnomADv4_1_AN_joint=222688;gnomADv4_1_AN_joint_XX=112042;gnomADv4_1_AN_joint_XY=110646;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=13922;gnomADv4_1_nhomalt_joint_XX=7119;gnomADv4_1_nhomalt_joint_XY=6803;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29234280 chr22_29234280_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.896;CADD_Rawscore=0.149766;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||11/14|ENST00000334018.11:c.1030-25C>T|||||||rs76176511||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||10/13|ENST00000404755.7:c.967-25C>T|||||||rs76176511||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||11/14|ENST00000404820.7:c.1030-25C>T|||||||rs76176511||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29234280C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs76176511|852|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29234280C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs76176511|2665|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||7/8|ENST00000433143.1:c.618-25C>T|||||||rs76176511||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||C|C||||chr22:g.29234280C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs76176511|1935|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29234280C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs76176511|418|1||HGNC|HGNC:18036|1||||||||Ensembl||C|C||||chr22:g.29234280C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs76176511|613|1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||3/5|ENST00000487477.1:n.240-25C>T|||||||rs76176511||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||4/7|ENST00000488820.6:n.274-25C>T|||||||rs76176511||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||11/14|NM_001267895.2:c.1024-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||11/14|NM_001410828.1:c.1030-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||11/14|NM_133455.4:c.1030-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||10/13|XM_005261329.4:c.946-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||12/15|XM_011529868.4:c.1081-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||12/15|XM_011529869.4:c.1081-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||12/14|XM_011529870.4:c.1081-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||11/14|XM_011529871.4:c.997-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||12/15|XM_011529872.4:c.1081-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||12/15|XM_011529873.4:c.1081-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||8/11|XM_011529875.2:c.616-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||8/11|XM_011529876.2:c.544-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||11/14|XM_047441133.1:c.997-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||11/13|XM_047441134.1:c.1030-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||10/13|XM_047441135.1:c.946-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||11/14|XM_047441136.1:c.1030-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||10/13|XM_047441137.1:c.946-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||12/16|XR_937808.4:n.1224-25C>T|||||||rs76176511||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs76176511|812|1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29234280C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|25|-7|-2|25;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29146;gnomADv4_1_AC_joint_XX=14765;gnomADv4_1_AC_joint_XY=14381;gnomADv4_1_AF_grpmax_joint=0.0247688;gnomADv4_1_AF_joint=0.0180616;gnomADv4_1_AF_joint_XX=0.018178;gnomADv4_1_AF_joint_XY=0.0179436;gnomADv4_1_AN_grpmax_joint=6056;gnomADv4_1_AN_joint=1613700;gnomADv4_1_AN_joint_XX=812246;gnomADv4_1_AN_joint_XY=801454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=323;gnomADv4_1_nhomalt_joint_XX=152;gnomADv4_1_nhomalt_joint_XY=171;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29234575 chr22_29234575_C_T C T 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=8.356;CADD_Rawscore=0.807459;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+226C>T|||||||rs713886||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+226C>T|||||||rs713886||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+226C>T|||||||rs713886||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29234575C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs713886|1147|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29234575C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs713886|2960|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+226C>T|||||||rs713886||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||C|C||||chr22:g.29234575C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs713886|2230|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29234575C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs713886|713|1||HGNC|HGNC:18036|1||||||||Ensembl||C|C||||chr22:g.29234575C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs713886|908|1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+226C>T|||||||rs713886||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+226C>T|||||||rs713886||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+226C>T|||||||rs713886||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs713886|1107|1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29234575C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|-24|1|-24|-4;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=131196;gnomADv4_1_AC_joint_XX=66988;gnomADv4_1_AC_joint_XY=64208;gnomADv4_1_AF_grpmax_joint=0.977984;gnomADv4_1_AF_joint=0.862133;gnomADv4_1_AF_joint_XX=0.86125;gnomADv4_1_AF_joint_XY=0.863057;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152176;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56946;gnomADv4_1_nhomalt_joint_XX=29039;gnomADv4_1_nhomalt_joint_XY=27907;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29234833 chr22_29234833_C_G C G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.012;CADD_Rawscore=-0.014677;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+484C>G|||||||rs6006067||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+484C>G|||||||rs6006067||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+484C>G|||||||rs6006067||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29234833C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs6006067|1405|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29234833C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs6006067|3218|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+484C>G|||||||rs6006067||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||C|C||||chr22:g.29234833C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs6006067|2488|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29234833C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs6006067|971|1||HGNC|HGNC:18036|1||||||||Ensembl||C|C||||chr22:g.29234833C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs6006067|1166|1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+484C>G|||||||rs6006067||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+484C>G|||||||rs6006067||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+484C>G|||||||rs6006067||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs6006067|1365|1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29234833C>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|-22|10|-1|22;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=130619;gnomADv4_1_AC_joint_XX=66693;gnomADv4_1_AC_joint_XY=63926;gnomADv4_1_AF_grpmax_joint=0.977992;gnomADv4_1_AF_joint=0.860071;gnomADv4_1_AF_joint_XX=0.85918;gnomADv4_1_AF_joint_XY=0.861003;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=151870;gnomADv4_1_AN_joint_XX=77624;gnomADv4_1_AN_joint_XY=74246;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56601;gnomADv4_1_nhomalt_joint_XX=28871;gnomADv4_1_nhomalt_joint_XY=27730;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29235103 chr22_29235103_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.53;CADD_Rawscore=0.093336;CSQ=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+754T>C|||||||rs4547624||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+754T>C|||||||rs4547624||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+754T>C|||||||rs4547624||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T||||chr22:g.29235103T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs4547624|1675|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||T|T||||chr22:g.29235103T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs4547624|3488|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+754T>C|||||||rs4547624||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||T|T||||chr22:g.29235103T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs4547624|2758|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||T|T||||chr22:g.29235103T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs4547624|1241|1||HGNC|HGNC:18036|1||||||||Ensembl||T|T||||chr22:g.29235103T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs4547624|1436|1||HGNC|HGNC:18036|5||||||||Ensembl||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+754T>C|||||||rs4547624||1||HGNC|HGNC:18036|2||||||||Ensembl||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+754T>C|||||||rs4547624||1||HGNC|HGNC:18036|3||||||||Ensembl||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+754T>C|||||||rs4547624||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs4547624|1635|1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29235103T>C|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|-45|14|31|-14;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21944;gnomADv4_1_AC_joint_XX=11020;gnomADv4_1_AC_joint_XY=10924;gnomADv4_1_AF_grpmax_joint=0.263572;gnomADv4_1_AF_joint=0.144321;gnomADv4_1_AF_joint_XX=0.141809;gnomADv4_1_AF_joint_XY=0.146946;gnomADv4_1_AN_grpmax_joint=41446;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2031;gnomADv4_1_nhomalt_joint_XX=1044;gnomADv4_1_nhomalt_joint_XY=987;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29235348 chr22_29235348_CAAA_C;chr22_29235348_CA_C;chr22_29235348_CAA_C CAAA C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.82;CADDIndel_Rawscore=-0.068909;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+1017_1074+1019del|||||||rs3066718||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+1017_1011+1019del|||||||rs3066718||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+1017_1074+1019del|||||||rs3066718||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs3066718|1921|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||AAA|AAA||||chr22:g.29235366_29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs3066718|3734|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||AAA|AAA||||chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+1017_662+1019del|||||||rs3066718||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs3066718|3004|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||AAA|AAA||||chr22:g.29235366_29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs3066718|1487|1||HGNC|HGNC:18036|1||||||||Ensembl||AAA|AAA||||chr22:g.29235366_29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs3066718|1682|1||HGNC|HGNC:18036|5||||||||Ensembl||AAA|AAA||||chr22:g.29235366_29235368del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+1017_284+1019del|||||||rs3066718||1||HGNC|HGNC:18036|2||||||||Ensembl||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+1017_318+1019del|||||||rs3066718||1||HGNC|HGNC:18036|3||||||||Ensembl||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+1017_1068+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+1017_1074+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+1017_1074+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+1017_990+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+1017_1125+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+1017_1125+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+1017_1125+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+1017_1041+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+1017_1125+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+1017_1125+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+1017_660+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+1017_588+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+1017_1041+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+1017_1074+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+1017_990+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+1017_1074+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+1017_990+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+1017_1268+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||||||||RefSeq||AAA|AAA|||17|chr22:g.29235366_29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs3066718|1881|1||EntrezGene|HGNC:18036|||||||||RefSeq||AAA|AAA||||chr22:g.29235366_29235368del|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|20|4|-15|4;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18746;gnomADv4_1_AC_joint_XX=9621;gnomADv4_1_AC_joint_XY=9125;gnomADv4_1_AF_grpmax_joint=0.306305;gnomADv4_1_AF_joint=0.16532;gnomADv4_1_AF_joint_XX=0.160564;gnomADv4_1_AF_joint_XY=0.17065;gnomADv4_1_AN_grpmax_joint=30930;gnomADv4_1_AN_joint=113392;gnomADv4_1_AN_joint_XX=59920;gnomADv4_1_AN_joint_XY=53472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1413;gnomADv4_1_nhomalt_joint_XX=729;gnomADv4_1_nhomalt_joint_XY=684;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29235348 chr22_29235348_CAAA_C;chr22_29235348_CA_C;chr22_29235348_CAA_C CA C 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.714;CADDIndel_Rawscore=-0.103912;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+1019del|||||||rs3066718||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+1019del|||||||rs3066718||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+1019del|||||||rs3066718||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A|||19|chr22:g.29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs3066718|1921|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs3066718|3734|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A||||chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+1019del|||||||rs3066718||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||A|A|||19|chr22:g.29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs3066718|3004|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs3066718|1487|1||HGNC|HGNC:18036|1||||||||Ensembl||A|A||||chr22:g.29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs3066718|1682|1||HGNC|HGNC:18036|5||||||||Ensembl||A|A||||chr22:g.29235368del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+1019del|||||||rs3066718||1||HGNC|HGNC:18036|2||||||||Ensembl||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+1019del|||||||rs3066718||1||HGNC|HGNC:18036|3||||||||Ensembl||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A|||19|chr22:g.29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs3066718|1881|1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29235368del|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|5|-15|9|-15;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9116;gnomADv4_1_AC_joint_XX=4790;gnomADv4_1_AC_joint_XY=4326;gnomADv4_1_AF_grpmax_joint=0.111111;gnomADv4_1_AF_joint=0.0804717;gnomADv4_1_AF_joint_XX=0.0800094;gnomADv4_1_AF_joint_XY=0.08099;gnomADv4_1_AN_grpmax_joint=234;gnomADv4_1_AN_joint=113282;gnomADv4_1_AN_joint_XX=59868;gnomADv4_1_AN_joint_XY=53414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=236;gnomADv4_1_nhomalt_joint_XX=105;gnomADv4_1_nhomalt_joint_XY=131;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29235348 chr22_29235348_CAAA_C;chr22_29235348_CA_C;chr22_29235348_CAA_C CAA C 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=0.724;CADDIndel_Rawscore=-0.100363;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+1018_1074+1019del|||||||rs3066718||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+1018_1011+1019del|||||||rs3066718||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+1018_1074+1019del|||||||rs3066718||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs3066718|1921|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||AA|AA||||chr22:g.29235367_29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs3066718|3734|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||AA|AA||||chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+1018_662+1019del|||||||rs3066718||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs3066718|3004|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||AA|AA||||chr22:g.29235367_29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs3066718|1487|1||HGNC|HGNC:18036|1||||||||Ensembl||AA|AA||||chr22:g.29235367_29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs3066718|1682|1||HGNC|HGNC:18036|5||||||||Ensembl||AA|AA||||chr22:g.29235367_29235368del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+1018_284+1019del|||||||rs3066718||1||HGNC|HGNC:18036|2||||||||Ensembl||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+1018_318+1019del|||||||rs3066718||1||HGNC|HGNC:18036|3||||||||Ensembl||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+1018_1068+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+1018_1074+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+1018_1074+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+1018_990+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+1018_1125+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+1018_1125+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+1018_1125+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+1018_1041+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+1018_1125+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+1018_1125+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+1018_660+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+1018_588+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+1018_1041+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+1018_1074+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+1018_990+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+1018_1074+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+1018_990+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+1018_1268+1019del|||||||rs3066718||1||EntrezGene|HGNC:18036|||||||||RefSeq||AA|AA|||18|chr22:g.29235367_29235368del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs3066718|1881|1||EntrezGene|HGNC:18036|||||||||RefSeq||AA|AA||||chr22:g.29235367_29235368del|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|20|4|-15|-8;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45949;gnomADv4_1_AC_joint_XX=24600;gnomADv4_1_AC_joint_XY=21349;gnomADv4_1_AF_grpmax_joint=0.521552;gnomADv4_1_AF_joint=0.406448;gnomADv4_1_AF_joint_XX=0.411605;gnomADv4_1_AF_joint_XY=0.400664;gnomADv4_1_AN_grpmax_joint=232;gnomADv4_1_AN_joint=113050;gnomADv4_1_AN_joint_XX=59766;gnomADv4_1_AN_joint_XY=53284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7850;gnomADv4_1_nhomalt_joint_XX=4208;gnomADv4_1_nhomalt_joint_XY=3642;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29236269 chr22_29236269_A_C A C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=3.427;CADD_Rawscore=0.31415;CSQ=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+1920A>C|||||||rs5763079||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+1920A>C|||||||rs5763079||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+1920A>C|||||||rs5763079||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29236269A>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs5763079|2841|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29236269A>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs5763079|4654|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+1920A>C|||||||rs5763079||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||A|A||||chr22:g.29236269A>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs5763079|3924|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29236269A>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs5763079|2407|1||HGNC|HGNC:18036|1||||||||Ensembl||A|A||||chr22:g.29236269A>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs5763079|2602|1||HGNC|HGNC:18036|5||||||||Ensembl||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+1920A>C|||||||rs5763079||1||HGNC|HGNC:18036|2||||||||Ensembl||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+1920A>C|||||||rs5763079||1||HGNC|HGNC:18036|3||||||||Ensembl||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+1920A>C|||||||rs5763079||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs5763079|2801|1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29236269A>C|||1||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|8|-5|-10|-30;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66641;gnomADv4_1_AC_joint_XX=34725;gnomADv4_1_AC_joint_XY=31916;gnomADv4_1_AF_grpmax_joint=0.531817;gnomADv4_1_AF_joint=0.43863;gnomADv4_1_AF_joint_XX=0.447026;gnomADv4_1_AF_joint_XY=0.429845;gnomADv4_1_AN_grpmax_joint=67952;gnomADv4_1_AN_joint=151930;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15691;gnomADv4_1_nhomalt_joint_XX=8311;gnomADv4_1_nhomalt_joint_XY=7380;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29236568 chr22_29236568_G_A G A 61 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=61;CADD_PHREDscore=1.798;CADD_Rawscore=0.135783;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+2219G>A|||||||rs12373988||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+2219G>A|||||||rs12373988||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+2219G>A|||||||rs12373988||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29236568G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs12373988|3140|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29236568G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs12373988|4953|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+2219G>A|||||||rs12373988||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||G|G||||chr22:g.29236568G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs12373988|4223|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||G|G||||chr22:g.29236568G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs12373988|2706|1||HGNC|HGNC:18036|1||||||||Ensembl||G|G||||chr22:g.29236568G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs12373988|2901|1||HGNC|HGNC:18036|5||||||||Ensembl||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+2219G>A|||||||rs12373988||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+2219G>A|||||||rs12373988||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+2219G>A|||||||rs12373988||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs12373988|3100|1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29236568G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|10|-22|-19|-22;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64027;gnomADv4_1_AC_joint_XX=32051;gnomADv4_1_AC_joint_XY=31976;gnomADv4_1_AF_grpmax_joint=0.681909;gnomADv4_1_AF_joint=0.422665;gnomADv4_1_AF_joint_XX=0.413647;gnomADv4_1_AF_joint_XY=0.432108;gnomADv4_1_AN_grpmax_joint=5030;gnomADv4_1_AN_joint=151484;gnomADv4_1_AN_joint_XX=77484;gnomADv4_1_AN_joint_XY=74000;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14138;gnomADv4_1_nhomalt_joint_XX=6899;gnomADv4_1_nhomalt_joint_XY=7239;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29236607 chr22_29236607_C_T C T 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.545;CADD_Rawscore=0.228509;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+2258C>T|||||||rs35269245||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+2258C>T|||||||rs35269245||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+2258C>T|||||||rs35269245||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29236607C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs35269245|3179|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29236607C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000430127|protein_coding||||||||||rs35269245|4992|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000399760||B0QYK2.82|UPI000161106B|||Ensembl||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+2258C>T|||||||rs35269245||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||C|C||||chr22:g.29236607C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs35269245|4262|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29236607C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs35269245|2745|1||HGNC|HGNC:18036|1||||||||Ensembl||C|C||||chr22:g.29236607C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs35269245|2940|1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+2258C>T|||||||rs35269245||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+2258C>T|||||||rs35269245||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+2258C>T|||||||rs35269245||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs35269245|3139|1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29236607C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|-5|-29|-2|19;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000430127,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39367;gnomADv4_1_AC_joint_XX=19539;gnomADv4_1_AC_joint_XY=19828;gnomADv4_1_AF_grpmax_joint=0.537465;gnomADv4_1_AF_joint=0.259948;gnomADv4_1_AF_joint_XX=0.252155;gnomADv4_1_AF_joint_XY=0.268113;gnomADv4_1_AN_grpmax_joint=5018;gnomADv4_1_AN_joint=151442;gnomADv4_1_AN_joint_XX=77488;gnomADv4_1_AN_joint_XY=73954;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5815;gnomADv4_1_nhomalt_joint_XX=2785;gnomADv4_1_nhomalt_joint_XY=3030;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29236749 chr22_29236749_A_G A G 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=9.675;CADD_Rawscore=0.941652;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+2400A>G|||||||rs7284125||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+2400A>G|||||||rs7284125||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+2400A>G|||||||rs7284125||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29236749A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs7284125|3321|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+2400A>G|||||||rs7284125||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||A|A||||chr22:g.29236749A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs7284125|4404|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29236749A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs7284125|2887|1||HGNC|HGNC:18036|1||||||||Ensembl||A|A||||chr22:g.29236749A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs7284125|3082|1||HGNC|HGNC:18036|5||||||||Ensembl||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+2400A>G|||||||rs7284125||1||HGNC|HGNC:18036|2||||||||Ensembl||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+2400A>G|||||||rs7284125||1||HGNC|HGNC:18036|3||||||||Ensembl||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+2400A>G|||||||rs7284125||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs7284125|3281|1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29236749A>G|||1||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|-10|16|-49|7;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45729;gnomADv4_1_AC_joint_XX=23925;gnomADv4_1_AC_joint_XY=21804;gnomADv4_1_AF_grpmax_joint=0.44898;gnomADv4_1_AF_joint=0.300746;gnomADv4_1_AF_joint_XX=0.307646;gnomADv4_1_AF_joint_XY=0.293522;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152052;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8800;gnomADv4_1_nhomalt_joint_XX=4672;gnomADv4_1_nhomalt_joint_XY=4128;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29236893 chr22_29236893_A_T A T 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.436;CADD_Rawscore=0.076742;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+2544A>T|||||||rs62227042||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+2544A>T|||||||rs62227042||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+2544A>T|||||||rs62227042||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29236893A>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs62227042|3465|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+2544A>T|||||||rs62227042||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||A|A||||chr22:g.29236893A>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs62227042|4548|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||A|A||||chr22:g.29236893A>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs62227042|3031|1||HGNC|HGNC:18036|1||||||||Ensembl||A|A||||chr22:g.29236893A>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs62227042|3226|1||HGNC|HGNC:18036|5||||||||Ensembl||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+2544A>T|||||||rs62227042||1||HGNC|HGNC:18036|2||||||||Ensembl||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+2544A>T|||||||rs62227042||1||HGNC|HGNC:18036|3||||||||Ensembl||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+2544A>T|||||||rs62227042||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs62227042|3425|1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29236893A>T|||1||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|-2|47|-2|30;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45536;gnomADv4_1_AC_joint_XX=23836;gnomADv4_1_AC_joint_XY=21700;gnomADv4_1_AF_grpmax_joint=0.47482;gnomADv4_1_AF_joint=0.307422;gnomADv4_1_AF_joint_XX=0.313681;gnomADv4_1_AF_joint_XY=0.300829;gnomADv4_1_AN_grpmax_joint=278;gnomADv4_1_AN_joint=148122;gnomADv4_1_AN_joint_XX=75988;gnomADv4_1_AN_joint_XY=72134;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8695;gnomADv4_1_nhomalt_joint_XX=4618;gnomADv4_1_nhomalt_joint_XY=4077;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29237070 chr22_29237070_C_T C T 31 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=31;CADD_PHREDscore=1.48;CADD_Rawscore=0.084501;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+2721C>T|||||||rs12161095||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+2721C>T|||||||rs12161095||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+2721C>T|||||||rs12161095||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29237070C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs12161095|3642|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+2721C>T|||||||rs12161095||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||C|C||||chr22:g.29237070C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs12161095|4725|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29237070C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs12161095|3208|1||HGNC|HGNC:18036|1||||||||Ensembl||C|C||||chr22:g.29237070C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs12161095|3403|1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+2721C>T|||||||rs12161095||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+2721C>T|||||||rs12161095||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+2721C>T|||||||rs12161095||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs12161095|3602|1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29237070C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|4|2|4|2;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65938;gnomADv4_1_AC_joint_XX=34393;gnomADv4_1_AC_joint_XY=31545;gnomADv4_1_AF_grpmax_joint=0.532999;gnomADv4_1_AF_joint=0.44121;gnomADv4_1_AF_joint_XX=0.449288;gnomADv4_1_AF_joint_XY=0.432728;gnomADv4_1_AN_grpmax_joint=67244;gnomADv4_1_AN_joint=149448;gnomADv4_1_AN_joint_XX=76550;gnomADv4_1_AN_joint_XY=72898;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16402;gnomADv4_1_nhomalt_joint_XX=8658;gnomADv4_1_nhomalt_joint_XY=7744;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29237086 chr22_29237086_C_G C G 22 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=22;CADD_PHREDscore=0.608;CADD_Rawscore=-0.144345;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+2737C>G|||||||rs12171266||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+2737C>G|||||||rs12171266||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+2737C>G|||||||rs12171266||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29237086C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs12171266|3658|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+2737C>G|||||||rs12171266||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||C|C||||chr22:g.29237086C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs12171266|4741|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||C|C||||chr22:g.29237086C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs12171266|3224|1||HGNC|HGNC:18036|1||||||||Ensembl||C|C||||chr22:g.29237086C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs12171266|3419|1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+2737C>G|||||||rs12171266||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+2737C>G|||||||rs12171266||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+2737C>G|||||||rs12171266||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs12171266|3618|1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29237086C>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|-6|-12|0|-14;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66914;gnomADv4_1_AC_joint_XX=34878;gnomADv4_1_AC_joint_XY=32036;gnomADv4_1_AF_grpmax_joint=0.543757;gnomADv4_1_AF_joint=0.45083;gnomADv4_1_AF_joint_XX=0.458933;gnomADv4_1_AF_joint_XY=0.442327;gnomADv4_1_AN_grpmax_joint=66846;gnomADv4_1_AN_joint=148424;gnomADv4_1_AN_joint_XX=75998;gnomADv4_1_AN_joint_XY=72426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=17949;gnomADv4_1_nhomalt_joint_XX=9443;gnomADv4_1_nhomalt_joint_XY=8506;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29237245 chr22_29237245_T_C T C 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.642;CADD_Rawscore=-0.130582;CSQ=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+2896T>C|||||||rs12158292||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+2896T>C|||||||rs12158292||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+2896T>C|||||||rs12158292||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T||||chr22:g.29237245T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs12158292|3817|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+2896T>C|||||||rs12158292||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||T|T||||chr22:g.29237245T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000435427|nonsense_mediated_decay||||||||||rs12158292|4900|1||HGNC|HGNC:18036|5||ENSP00000402621||F8WDX7.59|UPI000161106D|||Ensembl||T|T||||chr22:g.29237245T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs12158292|3383|1||HGNC|HGNC:18036|1||||||||Ensembl||T|T||||chr22:g.29237245T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs12158292|3578|1||HGNC|HGNC:18036|5||||||||Ensembl||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+2896T>C|||||||rs12158292||1||HGNC|HGNC:18036|2||||||||Ensembl||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+2896T>C|||||||rs12158292||1||HGNC|HGNC:18036|3||||||||Ensembl||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+2896T>C|||||||rs12158292||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs12158292|3777|1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29237245T>C|||1||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|-41|-39|-4|-41;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000433143,ENST00000435427,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72040;gnomADv4_1_AC_joint_XX=37599;gnomADv4_1_AC_joint_XY=34441;gnomADv4_1_AF_grpmax_joint=0.609929;gnomADv4_1_AF_joint=0.506946;gnomADv4_1_AF_joint_XX=0.515196;gnomADv4_1_AF_joint_XY=0.498235;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=142106;gnomADv4_1_AN_joint_XX=72980;gnomADv4_1_AN_joint_XY=69126;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=22597;gnomADv4_1_nhomalt_joint_XX=11882;gnomADv4_1_nhomalt_joint_XY=10715;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29237800 chr22_29237800_C_CA C CA 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=0.762;CADDIndel_Rawscore=-0.087343;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+3459dup|||||||rs71196642||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+3459dup|||||||rs71196642||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+3459dup|||||||rs71196642||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||||||8|chr22:g.29237808dup|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs71196642|4372|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl|||||||chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+3459dup|||||||rs71196642||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||||||8|chr22:g.29237808dup|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs71196642|3938|1||HGNC|HGNC:18036|1||||||||Ensembl|||||||chr22:g.29237808dup|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs71196642|4133|1||HGNC|HGNC:18036|5||||||||Ensembl|||||||chr22:g.29237808dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+3459dup|||||||rs71196642||1||HGNC|HGNC:18036|2||||||||Ensembl||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+3459dup|||||||rs71196642||1||HGNC|HGNC:18036|3||||||||Ensembl||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+3459dup|||||||rs71196642||1||EntrezGene|HGNC:18036|||||||||RefSeq||||||8|chr22:g.29237808dup|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs71196642|4332|1||EntrezGene|HGNC:18036|||||||||RefSeq|||||||chr22:g.29237808dup|||||||||||||;SpliceAI=CA|EMID1|0.00|0.00|0.00|0.00|38|-9|26|22;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000433143,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43548;gnomADv4_1_AC_joint_XX=21874;gnomADv4_1_AC_joint_XY=21674;gnomADv4_1_AF_grpmax_joint=0.622968;gnomADv4_1_AF_joint=0.310078;gnomADv4_1_AF_joint_XX=0.302578;gnomADv4_1_AF_joint_XY=0.318034;gnomADv4_1_AN_grpmax_joint=4676;gnomADv4_1_AN_joint=140442;gnomADv4_1_AN_joint_XX=72292;gnomADv4_1_AN_joint_XY=68150;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10165;gnomADv4_1_nhomalt_joint_XX=5002;gnomADv4_1_nhomalt_joint_XY=5163;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29237837 chr22_29237837_C_T C T 58 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.751;CADD_Rawscore=0.128807;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+3488C>T|||||||rs5752882||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+3488C>T|||||||rs5752882||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+3488C>T|||||||rs5752882||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29237837C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs5752882|4409|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+3488C>T|||||||rs5752882||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||C|C||||chr22:g.29237837C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs5752882|3975|1||HGNC|HGNC:18036|1||||||||Ensembl||C|C||||chr22:g.29237837C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs5752882|4170|1||HGNC|HGNC:18036|5||||||||Ensembl||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+3488C>T|||||||rs5752882||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+3488C>T|||||||rs5752882||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+3488C>T|||||||rs5752882||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs5752882|4369|1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29237837C>T|||1||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|45|9|-2|9;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000433143,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72671;gnomADv4_1_AC_joint_XX=37853;gnomADv4_1_AC_joint_XY=34818;gnomADv4_1_AF_grpmax_joint=0.600694;gnomADv4_1_AF_joint=0.509393;gnomADv4_1_AF_joint_XX=0.517386;gnomADv4_1_AF_joint_XY=0.500978;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=142662;gnomADv4_1_AN_joint_XX=73162;gnomADv4_1_AN_joint_XY=69500;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=22880;gnomADv4_1_nhomalt_joint_XX=11994;gnomADv4_1_nhomalt_joint_XY=10886;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29237946 chr22_29237946_G_A G A 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=4.831;CADD_Rawscore=0.440135;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+3597G>A|||||||rs62227043||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+3597G>A|||||||rs62227043||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+3597G>A|||||||rs62227043||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29237946G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs62227043|4518|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+3597G>A|||||||rs62227043||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||G|G||||chr22:g.29237946G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs62227043|4084|1||HGNC|HGNC:18036|1||||||||Ensembl||G|G||||chr22:g.29237946G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs62227043|4279|1||HGNC|HGNC:18036|5||||||||Ensembl||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+3597G>A|||||||rs62227043||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+3597G>A|||||||rs62227043||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+3597G>A|||||||rs62227043||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs62227043|4478|1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29237946G>A|||1||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|32|-42|32|19;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000433143,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49317;gnomADv4_1_AC_joint_XX=25783;gnomADv4_1_AC_joint_XY=23534;gnomADv4_1_AF_grpmax_joint=0.507042;gnomADv4_1_AF_joint=0.343018;gnomADv4_1_AF_joint_XX=0.349486;gnomADv4_1_AF_joint_XY=0.3362;gnomADv4_1_AN_grpmax_joint=284;gnomADv4_1_AN_joint=143774;gnomADv4_1_AN_joint_XX=73774;gnomADv4_1_AN_joint_XY=70000;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=13015;gnomADv4_1_nhomalt_joint_XX=6837;gnomADv4_1_nhomalt_joint_XY=6178;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29238254 chr22_29238254_AATT_A AATT A 42 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADDIndel_PHREDscore=0.516;CADDIndel_Rawscore=-0.185286;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+3952_1074+3954del|||||||rs3066719||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+3952_1011+3954del|||||||rs3066719||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+3952_1074+3954del|||||||rs3066719||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000429226|protein_coding||||||||||rs3066719|4827|1|cds_end_NF|HGNC|HGNC:18036|5||ENSP00000403816||B0QYK3.89|UPI000161106C|||Ensembl||ATT|ATT||||chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+3952_662+3954del|||||||rs3066719||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs3066719|4393|1||HGNC|HGNC:18036|1||||||||Ensembl||ATT|ATT||||chr22:g.29238301_29238303del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000484039|protein_coding_CDS_not_defined||||||||||rs3066719|4588|1||HGNC|HGNC:18036|5||||||||Ensembl||ATT|ATT||||chr22:g.29238301_29238303del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+3952_284+3954del|||||||rs3066719||1||HGNC|HGNC:18036|2||||||||Ensembl||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+3952_318+3954del|||||||rs3066719||1||HGNC|HGNC:18036|3||||||||Ensembl||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+3952_1068+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+3952_1074+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+3952_1074+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+3952_990+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+3952_1125+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+3952_1125+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+3952_1125+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+3952_1041+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+3952_1125+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+3952_1125+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+3952_660+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+3952_588+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+3952_1041+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+3952_1074+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+3952_990+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+3952_1074+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+3952_990+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+3952_1268+3954del|||||||rs3066719||1||EntrezGene|HGNC:18036|||||||||RefSeq||ATT|ATT|||46|chr22:g.29238301_29238303del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937810.4|misc_RNA||||||||||rs3066719|4787|1||EntrezGene|HGNC:18036|||||||||RefSeq||ATT|ATT||||chr22:g.29238301_29238303del|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|-37|-34|-39|-45;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000429226,ENST00000433143,ENST00000473933,ENST00000484039,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,XR_937810.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32146;gnomADv4_1_AC_joint_XX=16791;gnomADv4_1_AC_joint_XY=15355;gnomADv4_1_AF_grpmax_joint=0.372067;gnomADv4_1_AF_joint=0.276197;gnomADv4_1_AF_joint_XX=0.275488;gnomADv4_1_AF_joint_XY=0.276976;gnomADv4_1_AN_grpmax_joint=11506;gnomADv4_1_AN_joint=116388;gnomADv4_1_AN_joint_XX=60950;gnomADv4_1_AN_joint_XY=55438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=5822;gnomADv4_1_nhomalt_joint_XX=3044;gnomADv4_1_nhomalt_joint_XY=2778;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29238715 chr22_29238715_G_A G A 47 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.583;CADD_Rawscore=0.102325;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+4366G>A|||||||rs5763081||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+4366G>A|||||||rs5763081||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+4366G>A|||||||rs5763081||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+4366G>A|||||||rs5763081||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||G|G||||chr22:g.29238715G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs5763081|4853|1||HGNC|HGNC:18036|1||||||||Ensembl||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+4366G>A|||||||rs5763081||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+4366G>A|||||||rs5763081||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+4366G>A|||||||rs5763081||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29238715G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|33|1|33|-31;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000473933,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43797;gnomADv4_1_AC_joint_XX=22079;gnomADv4_1_AC_joint_XY=21718;gnomADv4_1_AF_grpmax_joint=0.661732;gnomADv4_1_AF_joint=0.329152;gnomADv4_1_AF_joint_XX=0.320655;gnomADv4_1_AF_joint_XY=0.338266;gnomADv4_1_AN_grpmax_joint=4458;gnomADv4_1_AN_joint=133060;gnomADv4_1_AN_joint_XX=68856;gnomADv4_1_AN_joint_XY=64204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10296;gnomADv4_1_nhomalt_joint_XX=5064;gnomADv4_1_nhomalt_joint_XY=5232;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29238719 chr22_29238719_ATT_A ATT A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=0.5;AF_XX=1.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=0.446;CADDIndel_Rawscore=-0.221636;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1074+4389_1074+4390del|||||||rs71196644||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1011+4389_1011+4390del|||||||rs71196644||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1074+4389_1074+4390del|||||||rs71196644||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.662+4389_662+4390del|||||||rs71196644||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000473933|retained_intron||||||||||rs71196644|4858|1||HGNC|HGNC:18036|1||||||||Ensembl||TT|TT||||chr22:g.29238738_29238739del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.284+4389_284+4390del|||||||rs71196644||1||HGNC|HGNC:18036|2||||||||Ensembl||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.318+4389_318+4390del|||||||rs71196644||1||HGNC|HGNC:18036|3||||||||Ensembl||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1068+4389_1068+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1074+4389_1074+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1074+4389_1074+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.990+4389_990+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1125+4389_1125+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1125+4389_1125+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1125+4389_1125+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1041+4389_1041+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1125+4389_1125+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1125+4389_1125+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.660+4389_660+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.588+4389_588+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1041+4389_1041+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1074+4389_1074+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.990+4389_990+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1074+4389_1074+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.990+4389_990+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1268+4389_1268+4390del|||||||rs71196644||1||EntrezGene|HGNC:18036|||||||||RefSeq||TT|TT|||18|chr22:g.29238738_29238739del|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|29|2|7|-11;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000473933,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40010;gnomADv4_1_AC_joint_XX=20215;gnomADv4_1_AC_joint_XY=19795;gnomADv4_1_AF_grpmax_joint=0.640632;gnomADv4_1_AF_joint=0.340917;gnomADv4_1_AF_joint_XX=0.330732;gnomADv4_1_AF_joint_XY=0.351986;gnomADv4_1_AN_grpmax_joint=4238;gnomADv4_1_AN_joint=117360;gnomADv4_1_AN_joint_XX=61122;gnomADv4_1_AN_joint_XY=56238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8488;gnomADv4_1_nhomalt_joint_XX=4143;gnomADv4_1_nhomalt_joint_XY=4345;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29239299 chr22_29239299_AT_A AT A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=0.5;AF_XX=1.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADDIndel_PHREDscore=0.327;CADDIndel_Rawscore=-0.300289;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1075-4137del|||||||rs34129317||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1012-4137del|||||||rs34129317||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1075-4137del|||||||rs34129317||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.663-4137del|||||||rs34129317||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.285-4137del|||||||rs34129317||1||HGNC|HGNC:18036|2||||||||Ensembl||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.319-4137del|||||||rs34129317||1||HGNC|HGNC:18036|3||||||||Ensembl||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1069-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1075-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1075-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.991-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1126-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1126-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1126-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1042-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1126-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1126-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.661-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.589-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1042-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1075-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.991-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1075-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.991-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1269-4137del|||||||rs34129317||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T|||8|chr22:g.29239308del|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|39|17|-26|17;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43007;gnomADv4_1_AC_joint_XX=21605;gnomADv4_1_AC_joint_XY=21402;gnomADv4_1_AF_grpmax_joint=0.63241;gnomADv4_1_AF_joint=0.324797;gnomADv4_1_AF_joint_XX=0.316557;gnomADv4_1_AF_joint_XY=0.333562;gnomADv4_1_AN_grpmax_joint=4622;gnomADv4_1_AN_joint=132412;gnomADv4_1_AN_joint_XX=68250;gnomADv4_1_AN_joint_XY=64162;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9901;gnomADv4_1_nhomalt_joint_XX=4877;gnomADv4_1_nhomalt_joint_XY=5024;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29239322 chr22_29239322_G_A G A 55 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=0.5;AF_XX=1.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=2.976;CADD_Rawscore=0.272177;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1075-4123G>A|||||||rs5763082||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1012-4123G>A|||||||rs5763082||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1075-4123G>A|||||||rs5763082||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.663-4123G>A|||||||rs5763082||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.285-4123G>A|||||||rs5763082||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.319-4123G>A|||||||rs5763082||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1069-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1075-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1075-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.991-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1126-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1126-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1126-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1042-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1126-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1126-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.661-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.589-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1042-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1075-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.991-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1075-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.991-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1269-4123G>A|||||||rs5763082||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29239322G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|-6|16|-6|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45264;gnomADv4_1_AC_joint_XX=22742;gnomADv4_1_AC_joint_XY=22522;gnomADv4_1_AF_grpmax_joint=0.669647;gnomADv4_1_AF_joint=0.369231;gnomADv4_1_AF_joint_XX=0.360824;gnomADv4_1_AF_joint_XY=0.378127;gnomADv4_1_AN_grpmax_joint=4474;gnomADv4_1_AN_joint=122590;gnomADv4_1_AN_joint_XX=63028;gnomADv4_1_AN_joint_XY=59562;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10827;gnomADv4_1_nhomalt_joint_XX=5333;gnomADv4_1_nhomalt_joint_XY=5494;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29239430 chr22_29239430_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=1.696;CADD_Rawscore=0.120375;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1075-4015C>T|||||||rs5763083||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1012-4015C>T|||||||rs5763083||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1075-4015C>T|||||||rs5763083||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.663-4015C>T|||||||rs5763083||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.285-4015C>T|||||||rs5763083||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.319-4015C>T|||||||rs5763083||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1069-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1075-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1075-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.991-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1126-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1126-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1126-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1042-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1126-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1126-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.661-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.589-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1042-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1075-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.991-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1075-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.991-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1269-4015C>T|||||||rs5763083||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29239430C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|-2|38|-2|-22;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62382;gnomADv4_1_AC_joint_XX=31245;gnomADv4_1_AC_joint_XY=31137;gnomADv4_1_AF_grpmax_joint=0.676078;gnomADv4_1_AF_joint=0.4151;gnomADv4_1_AF_joint_XX=0.406317;gnomADv4_1_AF_joint_XY=0.424302;gnomADv4_1_AN_grpmax_joint=5100;gnomADv4_1_AN_joint=150282;gnomADv4_1_AN_joint_XX=76898;gnomADv4_1_AN_joint_XY=73384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13557;gnomADv4_1_nhomalt_joint_XX=6645;gnomADv4_1_nhomalt_joint_XY=6912;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29239761 chr22_29239761_C_CT C CT 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=1.014;CADDIndel_Rawscore=-0.014287;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1075-3670dup|||||||rs374949058||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1012-3670dup|||||||rs374949058||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1075-3670dup|||||||rs374949058||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.663-3670dup|||||||rs374949058||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.285-3670dup|||||||rs374949058||1||HGNC|HGNC:18036|2||||||||Ensembl||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.319-3670dup|||||||rs374949058||1||HGNC|HGNC:18036|3||||||||Ensembl||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1069-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1075-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1075-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.991-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1126-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1126-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1126-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1042-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1126-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1126-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.661-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.589-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1042-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1075-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.991-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1075-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.991-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1269-3670dup|||||||rs374949058||1||EntrezGene|HGNC:18036|||||||||RefSeq||||||14|chr22:g.29239775dup|||||||||||||;SpliceAI=CT|EMID1|0.02|0.00|0.00|0.00|22|42|42|-48;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45175;gnomADv4_1_AC_joint_XX=23963;gnomADv4_1_AC_joint_XY=21212;gnomADv4_1_AF_grpmax_joint=0.454225;gnomADv4_1_AF_joint=0.315213;gnomADv4_1_AF_joint_XX=0.323658;gnomADv4_1_AF_joint_XY=0.306187;gnomADv4_1_AN_grpmax_joint=284;gnomADv4_1_AN_joint=143316;gnomADv4_1_AN_joint_XX=74038;gnomADv4_1_AN_joint_XY=69278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8421;gnomADv4_1_nhomalt_joint_XX=4542;gnomADv4_1_nhomalt_joint_XY=3879;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29240013 chr22_29240013_G_A G A 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.675;CADD_Rawscore=0.117122;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1075-3432G>A|||||||rs6006071||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1012-3432G>A|||||||rs6006071||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1075-3432G>A|||||||rs6006071||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.663-3432G>A|||||||rs6006071||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.285-3432G>A|||||||rs6006071||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.319-3432G>A|||||||rs6006071||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1069-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1075-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1075-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.991-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1126-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1126-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1126-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1042-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1126-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1126-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.661-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.589-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1042-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1075-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.991-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1075-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.991-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1269-3432G>A|||||||rs6006071||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29240013G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|40|-18|-28|-20;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=63762;gnomADv4_1_AC_joint_XX=31859;gnomADv4_1_AC_joint_XY=31903;gnomADv4_1_AF_grpmax_joint=0.680674;gnomADv4_1_AF_joint=0.420062;gnomADv4_1_AF_joint_XX=0.410469;gnomADv4_1_AF_joint_XY=0.430099;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=151792;gnomADv4_1_AN_joint_XX=77616;gnomADv4_1_AN_joint_XY=74176;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13994;gnomADv4_1_nhomalt_joint_XX=6807;gnomADv4_1_nhomalt_joint_XY=7187;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29240152 chr22_29240152_T_A T A 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=12.78;CADD_Rawscore=1.28103;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1075-3293T>A|||||||rs5997457||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1012-3293T>A|||||||rs5997457||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1075-3293T>A|||||||rs5997457||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.663-3293T>A|||||||rs5997457||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.285-3293T>A|||||||rs5997457||1||HGNC|HGNC:18036|2||||||||Ensembl||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.319-3293T>A|||||||rs5997457||1||HGNC|HGNC:18036|3||||||||Ensembl||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1069-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1075-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1075-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.991-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1126-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1126-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1126-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1042-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1126-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1126-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.661-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.589-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1042-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1075-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.991-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1075-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.991-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1269-3293T>A|||||||rs5997457||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29240152T>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|11|21|11|-37;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=63768;gnomADv4_1_AC_joint_XX=31893;gnomADv4_1_AC_joint_XY=31875;gnomADv4_1_AF_grpmax_joint=0.67907;gnomADv4_1_AF_joint=0.41962;gnomADv4_1_AF_joint_XX=0.410337;gnomADv4_1_AF_joint_XY=0.429339;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151966;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13979;gnomADv4_1_nhomalt_joint_XX=6816;gnomADv4_1_nhomalt_joint_XY=7163;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29240394 chr22_29240394_AAG_A AAG A 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=3.049;CADDIndel_Rawscore=0.27911;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1075-3048_1075-3047del|||||||rs74320717||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1012-3048_1012-3047del|||||||rs74320717||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1075-3048_1075-3047del|||||||rs74320717||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.663-3048_663-3047del|||||||rs74320717||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.285-3048_285-3047del|||||||rs74320717||1||HGNC|HGNC:18036|2||||||||Ensembl||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.319-3048_319-3047del|||||||rs74320717||1||HGNC|HGNC:18036|3||||||||Ensembl||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1069-3048_1069-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1075-3048_1075-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1075-3048_1075-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.991-3048_991-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1126-3048_1126-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1126-3048_1126-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1126-3048_1126-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1042-3048_1042-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1126-3048_1126-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1126-3048_1126-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.661-3048_661-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.589-3048_589-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1042-3048_1042-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1075-3048_1075-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.991-3048_991-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1075-3048_1075-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.991-3048_991-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1269-3048_1269-3047del|||||||rs74320717||1||EntrezGene|HGNC:18036|||||||||RefSeq||AG|AG|||2|chr22:g.29240397_29240398del|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|29|3|-5|29;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39997;gnomADv4_1_AC_joint_XX=19857;gnomADv4_1_AC_joint_XY=20140;gnomADv4_1_AF_grpmax_joint=0.532956;gnomADv4_1_AF_joint=0.263277;gnomADv4_1_AF_joint_XX=0.255652;gnomADv4_1_AF_joint_XY=0.271253;gnomADv4_1_AN_grpmax_joint=5128;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77672;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5901;gnomADv4_1_nhomalt_joint_XX=2834;gnomADv4_1_nhomalt_joint_XY=3067;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29241635 chr22_29241635_C_T C T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.129;CADD_Rawscore=-0.543169;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1075-1810C>T|||||||rs9620876||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1012-1810C>T|||||||rs9620876||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1075-1810C>T|||||||rs9620876||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.663-1810C>T|||||||rs9620876||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.285-1810C>T|||||||rs9620876||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.319-1810C>T|||||||rs9620876||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1069-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1075-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1075-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.991-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1126-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1126-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1126-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1042-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1126-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1126-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.661-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.589-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1042-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1075-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.991-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1075-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.991-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1269-1810C>T|||||||rs9620876||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29241635C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|-10|-35|33|-40;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59726;gnomADv4_1_AC_joint_XX=30929;gnomADv4_1_AC_joint_XY=28797;gnomADv4_1_AF_grpmax_joint=0.530612;gnomADv4_1_AF_joint=0.393017;gnomADv4_1_AF_joint_XX=0.398139;gnomADv4_1_AF_joint_XY=0.387661;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151968;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=13096;gnomADv4_1_nhomalt_joint_XX=6844;gnomADv4_1_nhomalt_joint_XY=6252;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29241669 chr22_29241669_G_C G C 25 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=25;CADD_PHREDscore=0.125;CADD_Rawscore=-0.550875;CSQ=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1075-1776G>C|||||||rs9625746||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1012-1776G>C|||||||rs9625746||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1075-1776G>C|||||||rs9625746||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.663-1776G>C|||||||rs9625746||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.285-1776G>C|||||||rs9625746||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.319-1776G>C|||||||rs9625746||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1069-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1075-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1075-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.991-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1126-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1126-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1126-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1042-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1126-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1126-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.661-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.589-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1042-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1075-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.991-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1075-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.991-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1269-1776G>C|||||||rs9625746||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29241669G>C|||1||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|48|-44|42|47;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45624;gnomADv4_1_AC_joint_XX=23845;gnomADv4_1_AC_joint_XY=21779;gnomADv4_1_AF_grpmax_joint=0.44898;gnomADv4_1_AF_joint=0.300304;gnomADv4_1_AF_joint_XX=0.306925;gnomADv4_1_AF_joint_XY=0.293375;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151926;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8771;gnomADv4_1_nhomalt_joint_XX=4652;gnomADv4_1_nhomalt_joint_XY=4119;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29241793 chr22_29241793_A_AT A AT 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=2.896;CADDIndel_Rawscore=0.264381;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1075-1645dup|||||||rs34030930||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1012-1645dup|||||||rs34030930||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1075-1645dup|||||||rs34030930||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.663-1645dup|||||||rs34030930||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.285-1645dup|||||||rs34030930||1||HGNC|HGNC:18036|2||||||||Ensembl||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.319-1645dup|||||||rs34030930||1||HGNC|HGNC:18036|3||||||||Ensembl||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1069-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1075-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1075-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.991-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1126-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1126-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1126-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1042-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1126-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1126-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.661-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.589-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1042-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1075-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.991-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1075-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.991-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1269-1645dup|||||||rs34030930||1||EntrezGene|HGNC:18036|||||||||RefSeq||||||7|chr22:g.29241800dup|||||||||||||;SpliceAI=AT|EMID1|0.00|0.00|0.00|0.00|25|0|23|-49;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59623;gnomADv4_1_AC_joint_XX=30900;gnomADv4_1_AC_joint_XY=28723;gnomADv4_1_AF_grpmax_joint=0.530612;gnomADv4_1_AF_joint=0.394155;gnomADv4_1_AF_joint_XX=0.39939;gnomADv4_1_AF_joint_XY=0.388674;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151268;gnomADv4_1_AN_joint_XX=77368;gnomADv4_1_AN_joint_XY=73900;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=13095;gnomADv4_1_nhomalt_joint_XX=6846;gnomADv4_1_nhomalt_joint_XY=6249;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29241950 chr22_29241950_A_G A G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.115;CADD_Rawscore=-0.573114;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1075-1495A>G|||||||rs4823023||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1012-1495A>G|||||||rs4823023||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1075-1495A>G|||||||rs4823023||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.663-1495A>G|||||||rs4823023||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.285-1495A>G|||||||rs4823023||1||HGNC|HGNC:18036|2||||||||Ensembl||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.319-1495A>G|||||||rs4823023||1||HGNC|HGNC:18036|3||||||||Ensembl||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1069-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1075-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1075-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.991-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1126-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1126-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1126-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1042-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1126-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1126-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.661-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.589-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1042-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1075-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.991-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1075-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.991-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1269-1495A>G|||||||rs4823023||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29241950A>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|-14|6|-14|6;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=89367;gnomADv4_1_AC_joint_XX=46180;gnomADv4_1_AC_joint_XY=43187;gnomADv4_1_AF_grpmax_joint=0.642857;gnomADv4_1_AF_joint=0.589842;gnomADv4_1_AF_joint_XX=0.595948;gnomADv4_1_AF_joint_XY=0.58345;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151510;gnomADv4_1_AN_joint_XX=77490;gnomADv4_1_AN_joint_XY=74020;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=26479;gnomADv4_1_nhomalt_joint_XX=13811;gnomADv4_1_nhomalt_joint_XY=12668;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29242481 chr22_29242481_G_A G A 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.207;CADD_Rawscore=-0.418307;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1075-964G>A|||||||rs11704518||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1012-964G>A|||||||rs11704518||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1075-964G>A|||||||rs11704518||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.663-964G>A|||||||rs11704518||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.285-964G>A|||||||rs11704518||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.319-964G>A|||||||rs11704518||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1069-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1075-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1075-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.991-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1126-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1126-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1126-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1042-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1126-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1126-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.661-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.589-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1042-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1075-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.991-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1075-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.991-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1269-964G>A|||||||rs11704518||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29242481G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|44|15|3|14;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41070;gnomADv4_1_AC_joint_XX=21373;gnomADv4_1_AC_joint_XY=19697;gnomADv4_1_AF_grpmax_joint=0.438776;gnomADv4_1_AF_joint=0.270222;gnomADv4_1_AF_joint_XX=0.27512;gnomADv4_1_AF_joint_XY=0.265101;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7163;gnomADv4_1_nhomalt_joint_XX=3767;gnomADv4_1_nhomalt_joint_XY=3396;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29243146 chr22_29243146_CT_C CT C 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADDIndel_PHREDscore=11.07;CADDIndel_Rawscore=1.06792;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1075-297del|||||||rs66849612||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1012-297del|||||||rs66849612||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1075-297del|||||||rs66849612||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.663-297del|||||||rs66849612||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.285-297del|||||||rs66849612||1||HGNC|HGNC:18036|2||||||||Ensembl||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.319-297del|||||||rs66849612||1||HGNC|HGNC:18036|3||||||||Ensembl||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1069-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1075-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1075-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.991-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1126-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1126-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1126-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1042-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1126-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1126-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.661-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.589-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1042-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1075-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.991-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1075-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.991-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1269-297del|||||||rs66849612||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T|||1|chr22:g.29243148del|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|-2|13|49|27;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88779;gnomADv4_1_AC_joint_XX=45859;gnomADv4_1_AC_joint_XY=42920;gnomADv4_1_AF_grpmax_joint=0.643836;gnomADv4_1_AF_joint=0.584696;gnomADv4_1_AF_joint_XX=0.590616;gnomADv4_1_AF_joint_XY=0.578499;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151838;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=74192;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=26103;gnomADv4_1_nhomalt_joint_XX=13610;gnomADv4_1_nhomalt_joint_XY=12493;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29243203 chr22_29243203_C_T C T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.548;CADD_Rawscore=-0.170182;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||12/14|ENST00000334018.11:c.1075-242C>T|||||||rs2281157||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||11/13|ENST00000404755.7:c.1012-242C>T|||||||rs2281157||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||12/14|ENST00000404820.7:c.1075-242C>T|||||||rs2281157||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||8/8|ENST00000433143.1:c.663-242C>T|||||||rs2281157||1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||4/5|ENST00000487477.1:n.285-242C>T|||||||rs2281157||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||5/7|ENST00000488820.6:n.319-242C>T|||||||rs2281157||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||12/14|NM_001267895.2:c.1069-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||12/14|NM_001410828.1:c.1075-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||12/14|NM_133455.4:c.1075-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||11/13|XM_005261329.4:c.991-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||13/15|XM_011529868.4:c.1126-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||13/15|XM_011529869.4:c.1126-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||13/14|XM_011529870.4:c.1126-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||12/14|XM_011529871.4:c.1042-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||13/15|XM_011529872.4:c.1126-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||13/15|XM_011529873.4:c.1126-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||9/11|XM_011529875.2:c.661-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||9/11|XM_011529876.2:c.589-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||12/14|XM_047441133.1:c.1042-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||12/13|XM_047441134.1:c.1075-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||11/13|XM_047441135.1:c.991-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||12/14|XM_047441136.1:c.1075-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||11/13|XM_047441137.1:c.991-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||13/16|XR_937808.4:n.1269-242C>T|||||||rs2281157||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29243203C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|-2|-44|-8|41;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88820;gnomADv4_1_AC_joint_XX=45880;gnomADv4_1_AC_joint_XY=42940;gnomADv4_1_AF_grpmax_joint=0.646259;gnomADv4_1_AF_joint=0.584711;gnomADv4_1_AF_joint_XX=0.590659;gnomADv4_1_AF_joint_XY=0.578488;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151904;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=26129;gnomADv4_1_nhomalt_joint_XX=13621;gnomADv4_1_nhomalt_joint_XY=12508;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29244524 chr22_29244524_A_C A C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.947;CADD_Rawscore=0.36055;CSQ=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1119+1035A>C|||||||rs6519780||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1056+1035A>C|||||||rs6519780||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1119+1035A>C|||||||rs6519780||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29244524A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs6519780|1035|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.329+1035A>C|||||||rs6519780||1||HGNC|HGNC:18036|2||||||||Ensembl||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.363+1035A>C|||||||rs6519780||1||HGNC|HGNC:18036|3||||||||Ensembl||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1113+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1119+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1119+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1035+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1170+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1170+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1086+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1170+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1170+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.705+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.633+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1086+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1035+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1119+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1035+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1313+1035A>C|||||||rs6519780||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29244524A>C|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|10|2|18|-19;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59745;gnomADv4_1_AC_joint_XX=30958;gnomADv4_1_AC_joint_XY=28787;gnomADv4_1_AF_grpmax_joint=0.534014;gnomADv4_1_AF_joint=0.393354;gnomADv4_1_AF_joint_XX=0.398625;gnomADv4_1_AF_joint_XY=0.38784;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151886;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=13127;gnomADv4_1_nhomalt_joint_XX=6870;gnomADv4_1_nhomalt_joint_XY=6257;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29244716 chr22_29244716_G_A G A 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.738;CADD_Rawscore=0.248689;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1119+1227G>A|||||||rs7287249||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1056+1227G>A|||||||rs7287249||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1119+1227G>A|||||||rs7287249||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29244716G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs7287249|1227|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.329+1227G>A|||||||rs7287249||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.363+1227G>A|||||||rs7287249||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1113+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1119+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1119+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1035+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1170+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1170+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1086+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1170+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1170+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.705+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.633+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1086+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1035+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1119+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1035+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1313+1227G>A|||||||rs7287249||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29244716G>A|||||||||||||;SpliceAI=A|EMID1|0.01|0.00|0.00|0.00|-15|12|-15|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54377;gnomADv4_1_AC_joint_XX=28145;gnomADv4_1_AC_joint_XY=26232;gnomADv4_1_AF_grpmax_joint=0.5;gnomADv4_1_AF_joint=0.358938;gnomADv4_1_AF_joint_XX=0.363049;gnomADv4_1_AF_joint_XY=0.35463;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=151494;gnomADv4_1_AN_joint_XX=77524;gnomADv4_1_AN_joint_XY=73970;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=12184;gnomADv4_1_nhomalt_joint_XX=6358;gnomADv4_1_nhomalt_joint_XY=5826;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29244757 chr22_29244757_A_AAGACG A AAGACG 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=4.336;CADDIndel_Rawscore=0.395141;CSQ=AGACG|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1119+1271_1119+1275dup|||||||rs10660016||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1056+1271_1056+1275dup|||||||rs10660016||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1119+1271_1119+1275dup|||||||rs10660016||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs10660016|1268|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl|||||||chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.329+1271_329+1275dup|||||||rs10660016||1||HGNC|HGNC:18036|2||||||||Ensembl||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.363+1271_363+1275dup|||||||rs10660016||1||HGNC|HGNC:18036|3||||||||Ensembl||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1113+1271_1113+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1119+1271_1119+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1119+1271_1119+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1035+1271_1035+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1170+1271_1170+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1170+1271_1170+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+1271_1170+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1086+1271_1086+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1170+1271_1170+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1170+1271_1170+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.705+1271_705+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.633+1271_633+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1086+1271_1086+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+1271_1119+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1035+1271_1035+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1119+1271_1119+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1035+1271_1035+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||,AGACG|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1313+1271_1313+1275dup|||||||rs10660016||1||EntrezGene|HGNC:18036|||||||||RefSeq||||||7|chr22:g.29244760_29244764dup|||||||||||||;TYPE=INDEL;VEP_Allele=AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG,AGACG;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54273;gnomADv4_1_AC_joint_XX=28078;gnomADv4_1_AC_joint_XY=26195;gnomADv4_1_AF_grpmax_joint=0.503401;gnomADv4_1_AF_joint=0.357798;gnomADv4_1_AF_joint_XX=0.362119;gnomADv4_1_AF_joint_XY=0.35328;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151686;gnomADv4_1_AN_joint_XX=77538;gnomADv4_1_AN_joint_XY=74148;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=12080;gnomADv4_1_nhomalt_joint_XX=6316;gnomADv4_1_nhomalt_joint_XY=5764;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29245479 chr22_29245479_C_A C A 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=38;CADD_PHREDscore=7.885;CADD_Rawscore=0.755984;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1119+1990C>A|||||||rs77557927||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1056+1990C>A|||||||rs77557927||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1119+1990C>A|||||||rs77557927||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29245479C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs77557927|1990|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.329+1990C>A|||||||rs77557927||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.363+1990C>A|||||||rs77557927||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1113+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1119+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1119+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1035+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1170+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1170+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1086+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1170+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1170+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.705+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.633+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1086+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1035+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1119+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1035+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1313+1990C>A|||||||rs77557927||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29245479C>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4WCK|enhancer||||||||||rs77557927|||||||||||||||||||||chr22:g.29245479C>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|-47|-22|21|-22;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,ENSR22_C4WCK;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8446;gnomADv4_1_AC_joint_XX=4087;gnomADv4_1_AC_joint_XY=4359;gnomADv4_1_AF_grpmax_joint=0.0745066;gnomADv4_1_AF_joint=0.0554738;gnomADv4_1_AF_joint_XX=0.0525254;gnomADv4_1_AF_joint_XY=0.0585557;gnomADv4_1_AN_grpmax_joint=67994;gnomADv4_1_AN_joint=152252;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=343;gnomADv4_1_nhomalt_joint_XX=153;gnomADv4_1_nhomalt_joint_XY=190;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29245750 chr22_29245750_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.383;CADD_Rawscore=0.310119;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1119+2261G>A|||||||rs738435||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1056+2261G>A|||||||rs738435||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1119+2261G>A|||||||rs738435||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29245750G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs738435|2261|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.329+2261G>A|||||||rs738435||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.363+2261G>A|||||||rs738435||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1113+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1119+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1119+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1035+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1170+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1170+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1086+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1170+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1170+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.705+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.633+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1086+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1035+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1119+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1035+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1313+2261G>A|||||||rs738435||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29245750G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4WCK|enhancer||||||||||rs738435|||||||||||||||||||||chr22:g.29245750G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|-16|-6|1|-30;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4,ENSR22_C4WCK;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,.;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55342;gnomADv4_1_AC_joint_XX=28583;gnomADv4_1_AC_joint_XY=26759;gnomADv4_1_AF_grpmax_joint=0.506849;gnomADv4_1_AF_joint=0.363757;gnomADv4_1_AF_joint_XX=0.367561;gnomADv4_1_AF_joint_XY=0.35978;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152140;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=12279;gnomADv4_1_nhomalt_joint_XX=6398;gnomADv4_1_nhomalt_joint_XY=5881;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29246008 chr22_29246008_A_G A G 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=3.463;CADD_Rawscore=0.317352;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1119+2519A>G|||||||rs738436||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1056+2519A>G|||||||rs738436||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1119+2519A>G|||||||rs738436||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29246008A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs738436|2519|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.329+2519A>G|||||||rs738436||1||HGNC|HGNC:18036|2||||||||Ensembl||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.363+2519A>G|||||||rs738436||1||HGNC|HGNC:18036|3||||||||Ensembl||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1113+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1119+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1119+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1035+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1170+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1170+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1086+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1170+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1170+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.705+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.633+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1086+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1035+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1119+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1035+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1313+2519A>G|||||||rs738436||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29246008A>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|32|-18|-18|-4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88974;gnomADv4_1_AC_joint_XX=45935;gnomADv4_1_AC_joint_XY=43039;gnomADv4_1_AF_grpmax_joint=0.656463;gnomADv4_1_AF_joint=0.585294;gnomADv4_1_AF_joint_XX=0.591093;gnomADv4_1_AF_joint_XY=0.579229;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152016;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=26216;gnomADv4_1_nhomalt_joint_XX=13657;gnomADv4_1_nhomalt_joint_XY=12559;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29246376 chr22_29246376_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.163;CADD_Rawscore=0.184772;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1119+2887G>A|||||||rs5752890||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1056+2887G>A|||||||rs5752890||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1119+2887G>A|||||||rs5752890||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29246376G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs5752890|2887|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.329+2887G>A|||||||rs5752890||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.363+2887G>A|||||||rs5752890||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1113+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1119+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1119+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1035+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1170+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1170+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1086+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1170+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1170+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.705+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.633+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1086+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1035+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1119+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1035+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1313+2887G>A|||||||rs5752890||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29246376G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|-1|1|-24|47;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41116;gnomADv4_1_AC_joint_XX=20456;gnomADv4_1_AC_joint_XY=20660;gnomADv4_1_AF_grpmax_joint=0.535756;gnomADv4_1_AF_joint=0.270393;gnomADv4_1_AF_joint_XX=0.263167;gnomADv4_1_AF_joint_XY=0.27795;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152060;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6113;gnomADv4_1_nhomalt_joint_XX=2941;gnomADv4_1_nhomalt_joint_XY=3172;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29247432 chr22_29247432_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.094;CADD_Rawscore=-0.627421;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1119+3943G>A|||||||rs5763096||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1056+3943G>A|||||||rs5763096||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1119+3943G>A|||||||rs5763096||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29247432G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs5763096|3943|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.329+3943G>A|||||||rs5763096||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.363+3943G>A|||||||rs5763096||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1113+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1119+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1119+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1035+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1170+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1170+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1086+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1170+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1170+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.705+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.633+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1086+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1035+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1119+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1035+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1313+3943G>A|||||||rs5763096||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29247432G>A|||1||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|20|1|1|-31;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=89034;gnomADv4_1_AC_joint_XX=45976;gnomADv4_1_AC_joint_XY=43058;gnomADv4_1_AF_grpmax_joint=0.656463;gnomADv4_1_AF_joint=0.585573;gnomADv4_1_AF_joint_XX=0.591453;gnomADv4_1_AF_joint_XY=0.579422;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=26242;gnomADv4_1_nhomalt_joint_XX=13675;gnomADv4_1_nhomalt_joint_XY=12567;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29247549 chr22_29247549_A_C A C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=3.913;CADD_Rawscore=0.357547;CSQ=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1119+4060A>C|||||||rs55809359||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1056+4060A>C|||||||rs55809359||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1119+4060A>C|||||||rs55809359||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29247549A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs55809359|4060|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.329+4060A>C|||||||rs55809359||1||HGNC|HGNC:18036|2||||||||Ensembl||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.363+4060A>C|||||||rs55809359||1||HGNC|HGNC:18036|3||||||||Ensembl||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1113+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1119+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1119+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1035+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1170+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1170+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1086+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1170+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1170+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.705+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.633+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1086+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1035+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1119+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1035+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1313+4060A>C|||||||rs55809359||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29247549A>C|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|41|-2|11|14;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25180;gnomADv4_1_AC_joint_XX=13216;gnomADv4_1_AC_joint_XY=11964;gnomADv4_1_AF_grpmax_joint=0.251701;gnomADv4_1_AF_joint=0.165319;gnomADv4_1_AF_joint_XX=0.169775;gnomADv4_1_AF_joint_XY=0.16066;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152312;gnomADv4_1_AN_joint_XX=77844;gnomADv4_1_AN_joint_XY=74468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2824;gnomADv4_1_nhomalt_joint_XX=1522;gnomADv4_1_nhomalt_joint_XY=1302;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29248259 chr22_29248259_CTTT_C;chr22_29248259_CTT_C CTTT C 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=.;AF_XY=0.5;AN=4;AN_XX=0;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.688;CADDIndel_Rawscore=-0.113278;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1119+4789_1119+4791del|||||||rs33924066||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1056+4789_1056+4791del|||||||rs33924066||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1119+4789_1119+4791del|||||||rs33924066||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs33924066|4771|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||TTT|TTT||||chr22:g.29248278_29248280del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.329+4789_329+4791del|||||||rs33924066||1||HGNC|HGNC:18036|2||||||||Ensembl||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.363+4789_363+4791del|||||||rs33924066||1||HGNC|HGNC:18036|3||||||||Ensembl||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1113+4789_1113+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1119+4789_1119+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1119+4789_1119+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1035+4789_1035+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1170+4789_1170+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1170+4789_1170+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+4789_1170+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1086+4789_1086+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1170+4789_1170+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1170+4789_1170+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.705+4789_705+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.633+4789_633+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1086+4789_1086+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+4789_1119+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1035+4789_1035+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1119+4789_1119+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1035+4789_1035+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1313+4789_1313+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||||||||RefSeq||TTT|TTT|||18|chr22:g.29248278_29248280del|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|-23|6|-23|-21;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22735;gnomADv4_1_AC_joint_XX=12100;gnomADv4_1_AC_joint_XY=10635;gnomADv4_1_AF_grpmax_joint=0.222897;gnomADv4_1_AF_joint=0.19591;gnomADv4_1_AF_joint_XX=0.194853;gnomADv4_1_AF_joint_XY=0.197127;gnomADv4_1_AN_grpmax_joint=4114;gnomADv4_1_AN_joint=116048;gnomADv4_1_AN_joint_XX=62098;gnomADv4_1_AN_joint_XY=53950;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1995;gnomADv4_1_nhomalt_joint_XX=1043;gnomADv4_1_nhomalt_joint_XY=952;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29248259 chr22_29248259_CTTT_C;chr22_29248259_CTT_C CTT C 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=26;CADDIndel_PHREDscore=0.543;CADDIndel_Rawscore=-0.172565;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1119+4790_1119+4791del|||||||rs33924066||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1056+4790_1056+4791del|||||||rs33924066||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1119+4790_1119+4791del|||||||rs33924066||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000433143|protein_coding||||||||||rs33924066|4771|1|cds_start_NF&cds_end_NF|HGNC|HGNC:18036|5||ENSP00000408339||H0Y6W4.53|UPI000161106E|||Ensembl||TT|TT||||chr22:g.29248279_29248280del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.329+4790_329+4791del|||||||rs33924066||1||HGNC|HGNC:18036|2||||||||Ensembl||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.363+4790_363+4791del|||||||rs33924066||1||HGNC|HGNC:18036|3||||||||Ensembl||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1113+4790_1113+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1119+4790_1119+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1119+4790_1119+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1035+4790_1035+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1170+4790_1170+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1170+4790_1170+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+4790_1170+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1086+4790_1086+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1170+4790_1170+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1170+4790_1170+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.705+4790_705+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.633+4790_633+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1086+4790_1086+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+4790_1119+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1035+4790_1035+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1119+4790_1119+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1035+4790_1035+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1313+4790_1313+4791del|||||||rs33924066||1||EntrezGene|HGNC:18036|||||||||RefSeq||TT|TT|||19|chr22:g.29248279_29248280del|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|-23|6|-23|-21;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000433143,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32098;gnomADv4_1_AC_joint_XX=17781;gnomADv4_1_AC_joint_XY=14317;gnomADv4_1_AF_grpmax_joint=0.440594;gnomADv4_1_AF_joint=0.277204;gnomADv4_1_AF_joint_XX=0.287124;gnomADv4_1_AF_joint_XY=0.265799;gnomADv4_1_AN_grpmax_joint=202;gnomADv4_1_AN_joint=115792;gnomADv4_1_AN_joint_XX=61928;gnomADv4_1_AN_joint_XY=53864;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4911;gnomADv4_1_nhomalt_joint_XX=2794;gnomADv4_1_nhomalt_joint_XY=2117;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29248818 chr22_29248818_GC_G GC G 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.192;CADDIndel_Rawscore=-0.437793;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1119+5330del|||||||rs34416679||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1056+5330del|||||||rs34416679||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1119+5330del|||||||rs34416679||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.329+5330del|||||||rs34416679||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.363+5330del|||||||rs34416679||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1113+5330del|||||||rs34416679||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1119+5330del|||||||rs34416679||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1119+5330del|||||||rs34416679||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1035+5330del|||||||rs34416679||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1170+5330del|||||||rs34416679||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1170+5330del|||||||rs34416679||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+5330del|||||||rs34416679||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1086+5330del|||||||rs34416679||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1170+5330del|||||||rs34416679||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1170+5330del|||||||rs34416679||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.705+5330del|||||||rs34416679||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.633+5330del|||||||rs34416679||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1086+5330del|||||||rs34416679||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+5330del|||||||rs34416679||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1035+5330del|||||||rs34416679||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1119+5330del|||||||rs34416679||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1035+5330del|||||||rs34416679||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-5111del|||||||rs34416679||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29248819del|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.01|0.00|7|34|34|30;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87888;gnomADv4_1_AC_joint_XX=45495;gnomADv4_1_AC_joint_XY=42393;gnomADv4_1_AF_grpmax_joint=0.65411;gnomADv4_1_AF_joint=0.579117;gnomADv4_1_AF_joint_XX=0.586079;gnomADv4_1_AF_joint_XY=0.571827;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151762;gnomADv4_1_AN_joint_XX=77626;gnomADv4_1_AN_joint_XY=74136;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25701;gnomADv4_1_nhomalt_joint_XX=13448;gnomADv4_1_nhomalt_joint_XY=12253;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29249237 chr22_29249237_T_C T C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=3.296;CADD_Rawscore=0.302195;CSQ=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-4966T>C|||||||rs73156512||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-4966T>C|||||||rs73156512||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1119+5748T>C|||||||rs73156512||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-4966T>C|||||||rs73156512||1||HGNC|HGNC:18036|2||||||||Ensembl||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-4966T>C|||||||rs73156512||1||HGNC|HGNC:18036|3||||||||Ensembl||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-4966T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1119+5748T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-4966T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1035+5748T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1170+5748T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-4966T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+5748T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1086+5748T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1170+5748T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-4966T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.705+5748T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.633+5748T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-4966T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+5748T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-4966T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-4966T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-4966T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-4693T>C|||||||rs73156512||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29249237T>C|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|21|41|21|-1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8405;gnomADv4_1_AC_joint_XX=4060;gnomADv4_1_AC_joint_XY=4345;gnomADv4_1_AF_grpmax_joint=0.0740147;gnomADv4_1_AF_joint=0.0552757;gnomADv4_1_AF_joint_XX=0.0522523;gnomADv4_1_AF_joint_XY=0.0584351;gnomADv4_1_AN_grpmax_joint=68000;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=344;gnomADv4_1_nhomalt_joint_XX=153;gnomADv4_1_nhomalt_joint_XY=191;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29249275 chr22_29249275_G_C G C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.976;CADD_Rawscore=-0.024162;CSQ=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-4928G>C|||||||rs6006082||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-4928G>C|||||||rs6006082||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1119+5786G>C|||||||rs6006082||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-4928G>C|||||||rs6006082||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-4928G>C|||||||rs6006082||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-4928G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1119+5786G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-4928G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1035+5786G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1170+5786G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-4928G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+5786G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1086+5786G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1170+5786G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-4928G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.705+5786G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.633+5786G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-4928G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+5786G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-4928G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-4928G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-4928G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-4655G>C|||||||rs6006082||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29249275G>C|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|3|-17|3|-17;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87871;gnomADv4_1_AC_joint_XX=45480;gnomADv4_1_AC_joint_XY=42391;gnomADv4_1_AF_grpmax_joint=0.656463;gnomADv4_1_AF_joint=0.580766;gnomADv4_1_AF_joint_XX=0.58746;gnomADv4_1_AF_joint_XY=0.573751;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151302;gnomADv4_1_AN_joint_XX=77418;gnomADv4_1_AN_joint_XY=73884;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25743;gnomADv4_1_nhomalt_joint_XX=13460;gnomADv4_1_nhomalt_joint_XY=12283;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29249386 chr22_29249386_G_A G A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.598;CADD_Rawscore=-0.14854;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-4817G>A|||||||rs5763099||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-4817G>A|||||||rs5763099||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-5885G>A|||||||rs5763099||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-4817G>A|||||||rs5763099||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-4817G>A|||||||rs5763099||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-4817G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-5885G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-4817G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-5885G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-5885G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-4817G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+5897G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-5885G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-5885G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-4817G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-5885G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-5885G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-4817G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+5897G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-4817G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-4817G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-4817G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-4544G>A|||||||rs5763099||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29249386G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|-24|24|-25|7;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87475;gnomADv4_1_AC_joint_XX=45294;gnomADv4_1_AC_joint_XY=42181;gnomADv4_1_AF_grpmax_joint=0.641844;gnomADv4_1_AF_joint=0.578508;gnomADv4_1_AF_joint_XX=0.585512;gnomADv4_1_AF_joint_XY=0.571171;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=151208;gnomADv4_1_AN_joint_XX=77358;gnomADv4_1_AN_joint_XY=73850;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25500;gnomADv4_1_nhomalt_joint_XX=13346;gnomADv4_1_nhomalt_joint_XY=12154;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29249397 chr22_29249397_G_A G A 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.248;CADD_Rawscore=0.039924;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-4806G>A|||||||rs5763100||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-4806G>A|||||||rs5763100||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-5874G>A|||||||rs5763100||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-4806G>A|||||||rs5763100||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-4806G>A|||||||rs5763100||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-4806G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-5874G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-4806G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-5874G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-5874G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-4806G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+5908G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-5874G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-5874G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-4806G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-5874G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-5874G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-4806G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+5908G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-4806G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-4806G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-4806G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-4533G>A|||||||rs5763100||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29249397G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.01|0.00|-35|25|-36|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87457;gnomADv4_1_AC_joint_XX=45287;gnomADv4_1_AC_joint_XY=42170;gnomADv4_1_AF_grpmax_joint=0.641844;gnomADv4_1_AF_joint=0.578358;gnomADv4_1_AF_joint_XX=0.585451;gnomADv4_1_AF_joint_XY=0.57093;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=151216;gnomADv4_1_AN_joint_XX=77354;gnomADv4_1_AN_joint_XY=73862;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25499;gnomADv4_1_nhomalt_joint_XX=13348;gnomADv4_1_nhomalt_joint_XY=12151;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29249411 chr22_29249411_C_T C T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.407;CADD_Rawscore=-0.24489;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-4792C>T|||||||rs5763101||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-4792C>T|||||||rs5763101||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-5860C>T|||||||rs5763101||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-4792C>T|||||||rs5763101||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-4792C>T|||||||rs5763101||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-4792C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-5860C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-4792C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-5860C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-5860C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-4792C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+5922C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-5860C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-5860C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-4792C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-5860C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-5860C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-4792C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+5922C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-4792C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-4792C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-4792C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-4519C>T|||||||rs5763101||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29249411C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.01|0.00|-49|44|-2|-50;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87386;gnomADv4_1_AC_joint_XX=45245;gnomADv4_1_AC_joint_XY=42141;gnomADv4_1_AF_grpmax_joint=0.636691;gnomADv4_1_AF_joint=0.578309;gnomADv4_1_AF_joint_XX=0.58509;gnomADv4_1_AF_joint_XY=0.571202;gnomADv4_1_AN_grpmax_joint=278;gnomADv4_1_AN_joint=151106;gnomADv4_1_AN_joint_XX=77330;gnomADv4_1_AN_joint_XY=73776;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25469;gnomADv4_1_nhomalt_joint_XX=13319;gnomADv4_1_nhomalt_joint_XY=12150;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29249587 chr22_29249587_ATTATTTAT_A ATTATTTAT A 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.438;CADDIndel_Rawscore=-0.226122;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-4581_1120-4574del|||||||rs140494856||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-4581_1057-4574del|||||||rs140494856||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-5649_1120-5642del|||||||rs140494856||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-4581_330-4574del|||||||rs140494856||1||HGNC|HGNC:18036|2||||||||Ensembl||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-4581_364-4574del|||||||rs140494856||1||HGNC|HGNC:18036|3||||||||Ensembl||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-4581_1114-4574del|||||||rs140494856||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-5649_1120-5642del|||||||rs140494856||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-4581_1120-4574del|||||||rs140494856||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-5649_1036-5642del|||||||rs140494856||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-5649_1171-5642del|||||||rs140494856||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-4581_1171-4574del|||||||rs140494856||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+6133_1170+6140del|||||||rs140494856||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-5649_1087-5642del|||||||rs140494856||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-5649_1171-5642del|||||||rs140494856||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-4581_1171-4574del|||||||rs140494856||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-5649_706-5642del|||||||rs140494856||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-5649_634-5642del|||||||rs140494856||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-4581_1087-4574del|||||||rs140494856||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+6133_1119+6140del|||||||rs140494856||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-4581_1036-4574del|||||||rs140494856||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-4581_1120-4574del|||||||rs140494856||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-4581_1036-4574del|||||||rs140494856||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-4308_1314-4301del|||||||rs140494856||1||EntrezGene|HGNC:18036|||||||||RefSeq||TTATTTAT|TTATTTAT|||34|chr22:g.29249622_29249629del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50262;gnomADv4_1_AC_joint_XX=26525;gnomADv4_1_AC_joint_XY=23737;gnomADv4_1_AF_grpmax_joint=0.5;gnomADv4_1_AF_joint=0.360855;gnomADv4_1_AF_joint_XX=0.3678;gnomADv4_1_AF_joint_XY=0.353397;gnomADv4_1_AN_grpmax_joint=274;gnomADv4_1_AN_joint=139286;gnomADv4_1_AN_joint_XX=72118;gnomADv4_1_AN_joint_XY=67168;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=10873;gnomADv4_1_nhomalt_joint_XX=5838;gnomADv4_1_nhomalt_joint_XY=5035;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29249667 chr22_29249667_G_T G T 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.369;CADD_Rawscore=-0.269709;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-4536G>T|||||||rs5763102||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-4536G>T|||||||rs5763102||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-5604G>T|||||||rs5763102||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-4536G>T|||||||rs5763102||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-4536G>T|||||||rs5763102||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-4536G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-5604G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-4536G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-5604G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-5604G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-4536G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+6178G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-5604G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-5604G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-4536G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-5604G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-5604G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-4536G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+6178G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-4536G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-4536G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-4536G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-4263G>T|||||||rs5763102||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29249667G>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|-7|50|-7|-40;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87902;gnomADv4_1_AC_joint_XX=45495;gnomADv4_1_AC_joint_XY=42407;gnomADv4_1_AF_grpmax_joint=0.658621;gnomADv4_1_AF_joint=0.580449;gnomADv4_1_AF_joint_XX=0.58732;gnomADv4_1_AF_joint_XY=0.573253;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=151438;gnomADv4_1_AN_joint_XX=77462;gnomADv4_1_AN_joint_XY=73976;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25764;gnomADv4_1_nhomalt_joint_XX=13471;gnomADv4_1_nhomalt_joint_XY=12293;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29249768 chr22_29249768_C_G C G 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.542;CADD_Rawscore=0.228191;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-4435C>G|||||||rs5763103||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-4435C>G|||||||rs5763103||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-5503C>G|||||||rs5763103||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-4435C>G|||||||rs5763103||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-4435C>G|||||||rs5763103||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-4435C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-5503C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-4435C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-5503C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-5503C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-4435C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+6279C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-5503C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-5503C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-4435C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-5503C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-5503C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-4435C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+6279C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-4435C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-4435C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-4435C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-4162C>G|||||||rs5763103||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29249768C>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|32|-7|23|-11;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87555;gnomADv4_1_AC_joint_XX=45363;gnomADv4_1_AC_joint_XY=42192;gnomADv4_1_AF_grpmax_joint=0.656463;gnomADv4_1_AF_joint=0.578884;gnomADv4_1_AF_joint_XX=0.586116;gnomADv4_1_AF_joint_XY=0.571305;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151248;gnomADv4_1_AN_joint_XX=77396;gnomADv4_1_AN_joint_XY=73852;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25544;gnomADv4_1_nhomalt_joint_XX=13381;gnomADv4_1_nhomalt_joint_XY=12163;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29249787 chr22_29249787_G_A G A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.345;CADD_Rawscore=0.059542;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-4416G>A|||||||rs5763104||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-4416G>A|||||||rs5763104||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-5484G>A|||||||rs5763104||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-4416G>A|||||||rs5763104||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-4416G>A|||||||rs5763104||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-4416G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-5484G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-4416G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-5484G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-5484G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-4416G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+6298G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-5484G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-5484G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-4416G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-5484G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-5484G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-4416G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+6298G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-4416G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-4416G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-4416G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-4143G>A|||||||rs5763104||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29249787G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|2|13|-30|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87335;gnomADv4_1_AC_joint_XX=45280;gnomADv4_1_AC_joint_XY=42055;gnomADv4_1_AF_grpmax_joint=0.665517;gnomADv4_1_AF_joint=0.580392;gnomADv4_1_AF_joint_XX=0.587472;gnomADv4_1_AF_joint_XY=0.572956;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=150476;gnomADv4_1_AN_joint_XX=77076;gnomADv4_1_AN_joint_XY=73400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25454;gnomADv4_1_nhomalt_joint_XX=13350;gnomADv4_1_nhomalt_joint_XY=12104;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29250106 chr22_29250106_A_G A G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=5.015;CADD_Rawscore=0.457263;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-4097A>G|||||||rs4820800||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-4097A>G|||||||rs4820800||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-5165A>G|||||||rs4820800||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-4097A>G|||||||rs4820800||1||HGNC|HGNC:18036|2||||||||Ensembl||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-4097A>G|||||||rs4820800||1||HGNC|HGNC:18036|3||||||||Ensembl||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-4097A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-5165A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-4097A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-5165A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-5165A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-4097A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+6617A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-5165A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-5165A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-4097A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-5165A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-5165A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-4097A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+6617A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-4097A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-4097A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-4097A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-3824A>G|||||||rs4820800||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29250106A>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|1|5|1|5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68160;gnomADv4_1_AC_joint_XX=35270;gnomADv4_1_AC_joint_XY=32890;gnomADv4_1_AF_grpmax_joint=0.581633;gnomADv4_1_AF_joint=0.448492;gnomADv4_1_AF_joint_XX=0.453949;gnomADv4_1_AF_joint_XY=0.442784;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151976;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=15741;gnomADv4_1_nhomalt_joint_XX=8260;gnomADv4_1_nhomalt_joint_XY=7481;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29250286 chr22_29250286_A_G A G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=5.389;CADD_Rawscore=0.492835;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-3917A>G|||||||rs4820801||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-3917A>G|||||||rs4820801||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-4985A>G|||||||rs4820801||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-3917A>G|||||||rs4820801||1||HGNC|HGNC:18036|2||||||||Ensembl||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-3917A>G|||||||rs4820801||1||HGNC|HGNC:18036|3||||||||Ensembl||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-3917A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-4985A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-3917A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-4985A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-4985A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-3917A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+6797A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-4985A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-4985A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-3917A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-4985A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-4985A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-3917A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+6797A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-3917A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-3917A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-3917A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-3644A>G|||||||rs4820801||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29250286A>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|-5|5|-1|5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87746;gnomADv4_1_AC_joint_XX=45392;gnomADv4_1_AC_joint_XY=42354;gnomADv4_1_AF_grpmax_joint=0.653061;gnomADv4_1_AF_joint=0.578578;gnomADv4_1_AF_joint_XX=0.585522;gnomADv4_1_AF_joint_XY=0.571317;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151658;gnomADv4_1_AN_joint_XX=77524;gnomADv4_1_AN_joint_XY=74134;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25584;gnomADv4_1_nhomalt_joint_XX=13373;gnomADv4_1_nhomalt_joint_XY=12211;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29250450 chr22_29250450_A_C A C 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.672;CADD_Rawscore=0.336075;CSQ=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-3753A>C|||||||rs4823024||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-3753A>C|||||||rs4823024||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-4821A>C|||||||rs4823024||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-3753A>C|||||||rs4823024||1||HGNC|HGNC:18036|2||||||||Ensembl||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-3753A>C|||||||rs4823024||1||HGNC|HGNC:18036|3||||||||Ensembl||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-3753A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-4821A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-3753A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-4821A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-4821A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-3753A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+6961A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-4821A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-4821A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-3753A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-4821A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-4821A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-3753A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+6961A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-3753A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-3753A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-3753A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-3480A>C|||||||rs4823024||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29250450A>C|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|-8|32|-47|-8;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88249;gnomADv4_1_AC_joint_XX=45662;gnomADv4_1_AC_joint_XY=42587;gnomADv4_1_AF_grpmax_joint=0.660959;gnomADv4_1_AF_joint=0.579983;gnomADv4_1_AF_joint_XX=0.587006;gnomADv4_1_AF_joint_XY=0.572637;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25879;gnomADv4_1_nhomalt_joint_XX=13529;gnomADv4_1_nhomalt_joint_XY=12350;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29250561 chr22_29250561_C_CT C CT 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.739;CADDIndel_Rawscore=-0.09532;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-3632dup|||||||rs112503246||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-3632dup|||||||rs112503246||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-4700dup|||||||rs112503246||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-3632dup|||||||rs112503246||1||HGNC|HGNC:18036|2||||||||Ensembl||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-3632dup|||||||rs112503246||1||HGNC|HGNC:18036|3||||||||Ensembl||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-3632dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-4700dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-3632dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-4700dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-4700dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-3632dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+7082dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-4700dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-4700dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-3632dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-4700dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-4700dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-3632dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+7082dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-3632dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-3632dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-3632dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-3359dup|||||||rs112503246||1||EntrezGene|HGNC:18036|||||||||RefSeq||||||10|chr22:g.29250571dup|||||||||||||;SpliceAI=CT|EMID1|0.00|0.00|0.00|0.00|27|21|31|50;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88608;gnomADv4_1_AC_joint_XX=45856;gnomADv4_1_AC_joint_XY=42752;gnomADv4_1_AF_grpmax_joint=0.65625;gnomADv4_1_AF_joint=0.599197;gnomADv4_1_AF_joint_XX=0.603909;gnomADv4_1_AF_joint_XY=0.594223;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=147878;gnomADv4_1_AN_joint_XX=75932;gnomADv4_1_AN_joint_XY=71946;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=26604;gnomADv4_1_nhomalt_joint_XX=13866;gnomADv4_1_nhomalt_joint_XY=12738;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29250733 chr22_29250733_ATTT_A ATTT A 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADDIndel_PHREDscore=0.514;CADDIndel_Rawscore=-0.186041;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-3437_1120-3435del|||||||rs748172215||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-3437_1057-3435del|||||||rs748172215||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-4505_1120-4503del|||||||rs748172215||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-3437_330-3435del|||||||rs748172215||1||HGNC|HGNC:18036|2||||||||Ensembl||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-3437_364-3435del|||||||rs748172215||1||HGNC|HGNC:18036|3||||||||Ensembl||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-3437_1114-3435del|||||||rs748172215||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-4505_1120-4503del|||||||rs748172215||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-3437_1120-3435del|||||||rs748172215||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-4505_1036-4503del|||||||rs748172215||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-4505_1171-4503del|||||||rs748172215||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-3437_1171-3435del|||||||rs748172215||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+7277_1170+7279del|||||||rs748172215||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-4505_1087-4503del|||||||rs748172215||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-4505_1171-4503del|||||||rs748172215||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-3437_1171-3435del|||||||rs748172215||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-4505_706-4503del|||||||rs748172215||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-4505_634-4503del|||||||rs748172215||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-3437_1087-3435del|||||||rs748172215||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+7277_1119+7279del|||||||rs748172215||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-3437_1036-3435del|||||||rs748172215||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-3437_1120-3435del|||||||rs748172215||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-3437_1036-3435del|||||||rs748172215||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-3164_1314-3162del|||||||rs748172215||1||EntrezGene|HGNC:18036|||||||||RefSeq||TTT|TTT|||32|chr22:g.29250766_29250768del|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|41|38|-24|23;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3740;gnomADv4_1_AC_joint_XX=2157;gnomADv4_1_AC_joint_XY=1583;gnomADv4_1_AF_grpmax_joint=0.213568;gnomADv4_1_AF_joint=0.174864;gnomADv4_1_AF_joint_XX=0.182735;gnomADv4_1_AF_joint_XY=0.165171;gnomADv4_1_AN_grpmax_joint=1194;gnomADv4_1_AN_joint=21388;gnomADv4_1_AN_joint_XX=11804;gnomADv4_1_AN_joint_XY=9584;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=88;gnomADv4_1_nhomalt_joint_XX=51;gnomADv4_1_nhomalt_joint_XY=37;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29251138 chr22_29251138_G_A G A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.208;CADD_Rawscore=0.031463;CSQ=A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-3065G>A|||||||rs4369969||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-3065G>A|||||||rs4369969||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-4133G>A|||||||rs4369969||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-3065G>A|||||||rs4369969||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-3065G>A|||||||rs4369969||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-3065G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-4133G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-3065G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-4133G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-4133G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-3065G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1170+7649G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-4133G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-4133G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-3065G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-4133G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-4133G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-3065G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1119+7649G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-3065G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-3065G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-3065G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-2792G>A|||||||rs4369969||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29251138G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|-24|1|5|-43;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87692;gnomADv4_1_AC_joint_XX=45380;gnomADv4_1_AC_joint_XY=42312;gnomADv4_1_AF_grpmax_joint=0.649306;gnomADv4_1_AF_joint=0.579636;gnomADv4_1_AF_joint_XX=0.586502;gnomADv4_1_AF_joint_XY=0.572449;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=151288;gnomADv4_1_AN_joint_XX=77374;gnomADv4_1_AN_joint_XY=73914;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25641;gnomADv4_1_nhomalt_joint_XX=13412;gnomADv4_1_nhomalt_joint_XY=12229;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29251226 chr22_29251226_C_T C T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.384;CADD_Rawscore=-0.259567;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-2977C>T|||||||rs4261808||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-2977C>T|||||||rs4261808||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-4045C>T|||||||rs4261808||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-2977C>T|||||||rs4261808||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-2977C>T|||||||rs4261808||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-2977C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-4045C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-2977C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-4045C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-4045C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-2977C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-7591C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-4045C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-4045C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-2977C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-4045C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-4045C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-2977C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-7591C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-2977C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-2977C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-2977C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-2704C>T|||||||rs4261808||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29251226C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.01|0.00|-2|41|-2|17;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87840;gnomADv4_1_AC_joint_XX=45499;gnomADv4_1_AC_joint_XY=42341;gnomADv4_1_AF_grpmax_joint=0.657343;gnomADv4_1_AF_joint=0.580768;gnomADv4_1_AF_joint_XX=0.587539;gnomADv4_1_AF_joint_XY=0.573664;gnomADv4_1_AN_grpmax_joint=286;gnomADv4_1_AN_joint=151248;gnomADv4_1_AN_joint_XX=77440;gnomADv4_1_AN_joint_XY=73808;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25684;gnomADv4_1_nhomalt_joint_XX=13448;gnomADv4_1_nhomalt_joint_XY=12236;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29251274 chr22_29251274_G_T G T 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.241;CADD_Rawscore=-0.378473;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-2929G>T|||||||rs4369970||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-2929G>T|||||||rs4369970||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-3997G>T|||||||rs4369970||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-2929G>T|||||||rs4369970||1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-2929G>T|||||||rs4369970||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-2929G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-3997G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-2929G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-3997G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-3997G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-2929G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-7543G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-3997G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-3997G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-2929G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-3997G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-3997G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-2929G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-7543G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-2929G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-2929G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-2929G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-2656G>T|||||||rs4369970||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29251274G>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|-10|-1|-21|-50;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87787;gnomADv4_1_AC_joint_XX=45455;gnomADv4_1_AC_joint_XY=42332;gnomADv4_1_AF_grpmax_joint=0.65625;gnomADv4_1_AF_joint=0.580256;gnomADv4_1_AF_joint_XX=0.587122;gnomADv4_1_AF_joint_XY=0.573061;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=151290;gnomADv4_1_AN_joint_XX=77420;gnomADv4_1_AN_joint_XY=73870;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25696;gnomADv4_1_nhomalt_joint_XX=13445;gnomADv4_1_nhomalt_joint_XY=12251;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29251382 chr22_29251382_AT_A;chr22_29251382_ATT_A AT A 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.437;CADDIndel_Rawscore=-0.226968;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-2805del|||||||rs59254675||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-2805del|||||||rs59254675||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-3873del|||||||rs59254675||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-2805del|||||||rs59254675||1||HGNC|HGNC:18036|2||||||||Ensembl||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-2805del|||||||rs59254675||1||HGNC|HGNC:18036|3||||||||Ensembl||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-2805del|||||||rs59254675||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-3873del|||||||rs59254675||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-2805del|||||||rs59254675||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-3873del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-3873del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-2805del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-7419del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-3873del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-3873del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-2805del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-3873del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-3873del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-2805del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-7419del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-2805del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-2805del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-2805del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-2532del|||||||rs59254675||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T|||15|chr22:g.29251398del|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|8|19|50|-21;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=121157;gnomADv4_1_AC_joint_XX=62892;gnomADv4_1_AC_joint_XY=58265;gnomADv4_1_AF_grpmax_joint=0.954847;gnomADv4_1_AF_joint=0.844617;gnomADv4_1_AF_joint_XX=0.849731;gnomADv4_1_AF_joint_XY=0.839166;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=143446;gnomADv4_1_AN_joint_XX=74014;gnomADv4_1_AN_joint_XY=69432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=51296;gnomADv4_1_nhomalt_joint_XX=26794;gnomADv4_1_nhomalt_joint_XY=24502;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29251382 chr22_29251382_AT_A;chr22_29251382_ATT_A ATT A 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.433;CADDIndel_Rawscore=-0.229021;CSQ=-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-2806_1120-2805del|||||||rs59254675||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-2806_1057-2805del|||||||rs59254675||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-3874_1120-3873del|||||||rs59254675||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-2806_330-2805del|||||||rs59254675||1||HGNC|HGNC:18036|2||||||||Ensembl||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-2806_364-2805del|||||||rs59254675||1||HGNC|HGNC:18036|3||||||||Ensembl||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-2806_1114-2805del|||||||rs59254675||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-3874_1120-3873del|||||||rs59254675||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-2806_1120-2805del|||||||rs59254675||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-3874_1036-3873del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-3874_1171-3873del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-2806_1171-2805del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-7420_1171-7419del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-3874_1087-3873del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-3874_1171-3873del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-2806_1171-2805del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-3874_706-3873del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-3874_634-3873del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-2806_1087-2805del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-7420_1120-7419del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-2806_1036-2805del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-2806_1120-2805del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-2806_1036-2805del|||||||rs59254675||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-2533_1314-2532del|||||||rs59254675||1||EntrezGene|HGNC:18036|||||||||RefSeq||TT|TT|||14|chr22:g.29251397_29251398del|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|4|19|7|-21;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8663;gnomADv4_1_AC_joint_XX=4194;gnomADv4_1_AC_joint_XY=4469;gnomADv4_1_AF_grpmax_joint=0.0793505;gnomADv4_1_AF_joint=0.0604308;gnomADv4_1_AF_joint_XX=0.0567002;gnomADv4_1_AF_joint_XY=0.0644078;gnomADv4_1_AN_grpmax_joint=65406;gnomADv4_1_AN_joint=143354;gnomADv4_1_AN_joint_XX=73968;gnomADv4_1_AN_joint_XY=69386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=331;gnomADv4_1_nhomalt_joint_XX=144;gnomADv4_1_nhomalt_joint_XY=187;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29251795 chr22_29251795_A_G A G 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.438;CADD_Rawscore=0.076953;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-2408A>G|||||||rs6519781||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-2408A>G|||||||rs6519781||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-3476A>G|||||||rs6519781||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-2408A>G|||||||rs6519781||1||HGNC|HGNC:18036|2||||||||Ensembl||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-2408A>G|||||||rs6519781||1||HGNC|HGNC:18036|3||||||||Ensembl||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-2408A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-3476A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-2408A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-3476A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-3476A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-2408A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-7022A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-3476A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-3476A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-2408A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-3476A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-3476A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-2408A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-7022A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-2408A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-2408A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-2408A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-2135A>G|||||||rs6519781||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29251795A>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|19|-4|-36|-4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=89158;gnomADv4_1_AC_joint_XX=46120;gnomADv4_1_AC_joint_XY=43038;gnomADv4_1_AF_grpmax_joint=0.663265;gnomADv4_1_AF_joint=0.587354;gnomADv4_1_AF_joint_XX=0.594315;gnomADv4_1_AF_joint_XY=0.580074;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151796;gnomADv4_1_AN_joint_XX=77602;gnomADv4_1_AN_joint_XY=74194;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=26410;gnomADv4_1_nhomalt_joint_XX=13811;gnomADv4_1_nhomalt_joint_XY=12599;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29252176 chr22_29252176_T_C T C 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=4.984;CADD_Rawscore=0.454348;CSQ=C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-2027T>C|||||||rs2744464||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-2027T>C|||||||rs2744464||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-3095T>C|||||||rs2744464||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-2027T>C|||||||rs2744464||1||HGNC|HGNC:18036|2||||||||Ensembl||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-2027T>C|||||||rs2744464||1||HGNC|HGNC:18036|3||||||||Ensembl||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-2027T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-3095T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-2027T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-3095T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-3095T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-2027T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-6641T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-3095T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-3095T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-2027T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-3095T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-3095T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-2027T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-6641T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-2027T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-2027T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-2027T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-1754T>C|||||||rs2744464||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29252176T>C|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|-49|21|-49|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=89172;gnomADv4_1_AC_joint_XX=46136;gnomADv4_1_AC_joint_XY=43036;gnomADv4_1_AF_grpmax_joint=0.664384;gnomADv4_1_AF_joint=0.586727;gnomADv4_1_AF_joint_XX=0.59371;gnomADv4_1_AF_joint_XY=0.579422;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151982;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=26431;gnomADv4_1_nhomalt_joint_XX=13817;gnomADv4_1_nhomalt_joint_XY=12614;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29253215 chr22_29253215_C_T C T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.401;CADD_Rawscore=-0.248451;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||13/14|ENST00000334018.11:c.1120-988C>T|||||||rs5752894||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||12/13|ENST00000404755.7:c.1057-988C>T|||||||rs5752894||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-2056C>T|||||||rs5752894||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||5/5|ENST00000487477.1:n.330-988C>T|||||||rs5752894||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||6/7|ENST00000488820.6:n.364-988C>T|||||||rs5752894||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||13/14|NM_001267895.2:c.1114-988C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-2056C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||13/14|NM_133455.4:c.1120-988C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-2056C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-2056C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||14/15|XM_011529869.4:c.1171-988C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-5602C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-2056C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-2056C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||14/15|XM_011529873.4:c.1171-988C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-2056C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-2056C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||13/14|XM_047441133.1:c.1087-988C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-5602C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||12/13|XM_047441135.1:c.1036-988C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||13/14|XM_047441136.1:c.1120-988C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||12/13|XM_047441137.1:c.1036-988C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||14/16|XR_937808.4:n.1314-715C>T|||||||rs5752894||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29253215C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|17|-46|-2|48;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=89149;gnomADv4_1_AC_joint_XX=46097;gnomADv4_1_AC_joint_XY=43052;gnomADv4_1_AF_grpmax_joint=0.656463;gnomADv4_1_AF_joint=0.58609;gnomADv4_1_AF_joint_XX=0.592979;gnomADv4_1_AF_joint_XY=0.578889;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152108;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=26381;gnomADv4_1_nhomalt_joint_XX=13783;gnomADv4_1_nhomalt_joint_XY=12598;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29254469 chr22_29254469_C_T C T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=8.495;CADD_Rawscore=0.822138;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||14/14|ENST00000334018.11:c.1204+182C>T|||||||rs909794||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||13/13|ENST00000404755.7:c.1141+182C>T|||||||rs909794||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-802C>T|||||||rs909794||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29254469C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron|6/6||ENST00000487477.1:n.596C>T||596|||||rs909794||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||7/7|ENST00000488820.6:n.448+182C>T|||||||rs909794||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||14/14|NM_001267895.2:c.1198+182C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-802C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||14/14|NM_133455.4:c.1204+182C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-802C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-802C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||15/15|XM_011529869.4:c.1255+182C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-4348C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-802C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-802C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||15/15|XM_011529873.4:c.1255+182C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-802C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-802C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||14/14|XM_047441133.1:c.1171+182C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-4348C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||13/13|XM_047441135.1:c.1120+182C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||14/14|XM_047441136.1:c.1204+182C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||13/13|XM_047441137.1:c.1120+182C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||16/16|XR_937808.4:n.1559+182C>T|||||||rs909794||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29254469C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|47|9|-14|41;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=389378;gnomADv4_1_AC_joint_XX=190620;gnomADv4_1_AC_joint_XY=198758;gnomADv4_1_AF_grpmax_joint=0.710827;gnomADv4_1_AF_joint=0.631619;gnomADv4_1_AF_joint_XX=0.644361;gnomADv4_1_AF_joint_XY=0.619864;gnomADv4_1_AN_grpmax_joint=54680;gnomADv4_1_AN_joint=616476;gnomADv4_1_AN_joint_XX=295828;gnomADv4_1_AN_joint_XY=320648;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=126893;gnomADv4_1_nhomalt_joint_XX=62950;gnomADv4_1_nhomalt_joint_XY=63943;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29254703 chr22_29254703_A_G A G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.089;CADD_Rawscore=0.004341;CSQ=G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||14/14|ENST00000334018.11:c.1204+416A>G|||||||rs909795||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||13/13|ENST00000404755.7:c.1141+416A>G|||||||rs909795||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-568A>G|||||||rs909795||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||A|A||||chr22:g.29254703A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron|6/6||ENST00000487477.1:n.830A>G||830|||||rs909795||1||HGNC|HGNC:18036|2||||||||Ensembl||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||7/7|ENST00000488820.6:n.448+416A>G|||||||rs909795||1||HGNC|HGNC:18036|3||||||||Ensembl||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||14/14|NM_001267895.2:c.1198+416A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-568A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||14/14|NM_133455.4:c.1204+416A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-568A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-568A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||15/15|XM_011529869.4:c.1255+416A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-4114A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-568A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-568A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||15/15|XM_011529873.4:c.1255+416A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-568A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-568A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||14/14|XM_047441133.1:c.1171+416A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-4114A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||13/13|XM_047441135.1:c.1120+416A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||14/14|XM_047441136.1:c.1204+416A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||13/13|XM_047441137.1:c.1120+416A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||16/16|XR_937808.4:n.1559+416A>G|||||||rs909795||1||EntrezGene|HGNC:18036|||||||||RefSeq||A|A||||chr22:g.29254703A>G|||||||||||||;SpliceAI=G|EMID1|0.00|0.00|0.00|0.00|42|-46|-32|17;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=136497;gnomADv4_1_AC_joint_XX=69729;gnomADv4_1_AC_joint_XY=66768;gnomADv4_1_AF_grpmax_joint=0.849159;gnomADv4_1_AF_joint=0.653659;gnomADv4_1_AF_joint_XX=0.666842;gnomADv4_1_AF_joint_XY=0.640436;gnomADv4_1_AN_grpmax_joint=43138;gnomADv4_1_AN_joint=208820;gnomADv4_1_AN_joint_XX=104566;gnomADv4_1_AN_joint_XY=104254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=46414;gnomADv4_1_nhomalt_joint_XX=24007;gnomADv4_1_nhomalt_joint_XY=22407;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29254752 chr22_29254752_C_T C T 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=8.133;CADD_Rawscore=0.78345;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||14/14|ENST00000334018.11:c.1204+465C>T|||||||rs909796||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||13/13|ENST00000404755.7:c.1141+465C>T|||||||rs909796||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-519C>T|||||||rs909796||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29254752C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron|6/6||ENST00000487477.1:n.879C>T||879|||||rs909796||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||7/7|ENST00000488820.6:n.448+465C>T|||||||rs909796||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||14/14|NM_001267895.2:c.1198+465C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-519C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||14/14|NM_133455.4:c.1204+465C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-519C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-519C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||15/15|XM_011529869.4:c.1255+465C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-4065C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-519C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-519C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||15/15|XM_011529873.4:c.1255+465C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-519C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-519C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||14/14|XM_047441133.1:c.1171+465C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-4065C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||13/13|XM_047441135.1:c.1120+465C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||14/14|XM_047441136.1:c.1204+465C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||13/13|XM_047441137.1:c.1120+465C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||16/16|XR_937808.4:n.1559+465C>T|||||||rs909796||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29254752C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.02|0.00|0|-42|-32|16;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65250;gnomADv4_1_AC_joint_XX=33443;gnomADv4_1_AC_joint_XY=31807;gnomADv4_1_AF_grpmax_joint=0.529412;gnomADv4_1_AF_joint=0.36112;gnomADv4_1_AF_joint_XX=0.365801;gnomADv4_1_AF_joint_XY=0.356325;gnomADv4_1_AN_grpmax_joint=374;gnomADv4_1_AN_joint=180688;gnomADv4_1_AN_joint_XX=91424;gnomADv4_1_AN_joint_XY=89264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=14403;gnomADv4_1_nhomalt_joint_XX=7466;gnomADv4_1_nhomalt_joint_XY=6937;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29254785 chr22_29254785_C_T C T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.402;CADD_Rawscore=0.070455;CSQ=T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||14/14|ENST00000334018.11:c.1204+498C>T|||||||rs3765303||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||13/13|ENST00000404755.7:c.1141+498C>T|||||||rs3765303||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-486C>T|||||||rs3765303||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29254785C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron|6/6||ENST00000487477.1:n.912C>T||912|||||rs3765303||1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||7/7|ENST00000488820.6:n.449-486C>T|||||||rs3765303||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||14/14|NM_001267895.2:c.1198+498C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-486C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||14/14|NM_133455.4:c.1204+498C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-486C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-486C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||15/15|XM_011529869.4:c.1255+498C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-4032C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-486C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-486C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||15/15|XM_011529873.4:c.1256-486C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-486C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-486C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||14/14|XM_047441133.1:c.1171+498C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-4032C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||13/13|XM_047441135.1:c.1120+498C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||14/14|XM_047441136.1:c.1205-486C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||13/13|XM_047441137.1:c.1121-486C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||16/16|XR_937808.4:n.1559+498C>T|||||||rs3765303||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29254785C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|5|12|-17|12;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334018,ENST00000404755,ENST00000404820,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001410828.1,NM_133455.4,XM_005261329.4,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000186998,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9743;gnomADv4_1_AC_joint_XX=4689;gnomADv4_1_AC_joint_XY=5054;gnomADv4_1_AF_grpmax_joint=0.072784;gnomADv4_1_AF_joint=0.0565015;gnomADv4_1_AF_joint_XX=0.0536143;gnomADv4_1_AF_joint_XY=0.0594728;gnomADv4_1_AN_grpmax_joint=80100;gnomADv4_1_AN_joint=172438;gnomADv4_1_AN_joint_XX=87458;gnomADv4_1_AN_joint_XY=84980;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=391;gnomADv4_1_nhomalt_joint_XX=171;gnomADv4_1_nhomalt_joint_XY=220;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29254916 chr22_29254916_C_T C T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.398;CADD_Rawscore=0.069619;CSQ=T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||||||||||rs909797|4956|-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||14/14|ENST00000334018.11:c.1204+629C>T|||||||rs909797||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||13/13|ENST00000404755.7:c.1141+629C>T|||||||rs909797||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-355C>T|||||||rs909797||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29254916C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||||||||||rs909797|4988|-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||C|C||||chr22:g.29254916C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs909797|111|1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||7/7|ENST00000488820.6:n.449-355C>T|||||||rs909797||1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||14/14|NM_001267895.2:c.1198+629C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||||||||||rs909797|4936|-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-355C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||||||||||rs909797|4956|-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||14/14|NM_133455.4:c.1204+629C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||||||||||rs909797|4956|-1||EntrezGene|HGNC:1308|||||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-355C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||||||||||rs909797|4936|-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-355C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||15/15|XM_011529869.4:c.1255+629C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-3901C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-355C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-355C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||15/15|XM_011529873.4:c.1256-355C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-355C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-355C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding||||||||||rs909797|4936|-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding||||||||||rs909797|4936|-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||14/14|XM_047441133.1:c.1171+629C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-3901C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||13/13|XM_047441135.1:c.1120+629C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||14/14|XM_047441136.1:c.1205-355C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||13/13|XM_047441137.1:c.1121-355C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||16/16|XR_937808.4:n.1559+629C>T|||||||rs909797||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29254916C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|-2|5|37|-45;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216085,ENST00000334018,ENST00000404755,ENST00000404820,ENST00000413137,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001329536.1,NM_001410828.1,NM_012265.3,NM_133455.4,NR_138044.2,XM_005261329.4,XM_006724224.5,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_024452208.2,XM_024452209.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000100263,ENSG00000186998,ENSG00000186998,129080,25807,129080,25807,129080,25807,129080,25807,129080,129080,129080,129080,129080,129080,129080,129080,25807,25807,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=RHBDD3,EMID1,EMID1,EMID1,RHBDD3,EMID1,EMID1,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129636;gnomADv4_1_AC_joint_XX=66745;gnomADv4_1_AC_joint_XY=62891;gnomADv4_1_AF_grpmax_joint=0.710204;gnomADv4_1_AF_joint=0.657844;gnomADv4_1_AF_joint_XX=0.66673;gnomADv4_1_AF_joint_XY=0.648668;gnomADv4_1_AN_grpmax_joint=43296;gnomADv4_1_AN_joint=197062;gnomADv4_1_AN_joint_XX=100108;gnomADv4_1_AN_joint_XY=96954;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=43478;gnomADv4_1_nhomalt_joint_XX=22627;gnomADv4_1_nhomalt_joint_XY=20851;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29254998 chr22_29254998_G_A G A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.621;CADD_Rawscore=-0.139145;CSQ=A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||||||||||rs17526034|4874|-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||14/14|ENST00000334018.11:c.1204+711G>A|||||||rs17526034||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||13/13|ENST00000404755.7:c.1141+711G>A|||||||rs17526034||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-273G>A|||||||rs17526034||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29254998G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||||||||||rs17526034|4906|-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||G|G||||chr22:g.29254998G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs17526034|193|1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||7/7|ENST00000488820.6:n.449-273G>A|||||||rs17526034||1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||14/14|NM_001267895.2:c.1198+711G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||||||||||rs17526034|4854|-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-273G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||||||||||rs17526034|4874|-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||14/14|NM_133455.4:c.1204+711G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||||||||||rs17526034|4874|-1||EntrezGene|HGNC:1308|||||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-273G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||||||||||rs17526034|4854|-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-273G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||15/15|XM_011529869.4:c.1255+711G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-3819G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-273G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-273G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||15/15|XM_011529873.4:c.1256-273G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-273G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-273G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding||||||||||rs17526034|4854|-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding||||||||||rs17526034|4854|-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||14/14|XM_047441133.1:c.1171+711G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-3819G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||13/13|XM_047441135.1:c.1120+711G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||14/14|XM_047441136.1:c.1205-273G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||13/13|XM_047441137.1:c.1121-273G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||16/16|XR_937808.4:n.1559+711G>A|||||||rs17526034||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29254998G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|14|48|14|47;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216085,ENST00000334018,ENST00000404755,ENST00000404820,ENST00000413137,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001329536.1,NM_001410828.1,NM_012265.3,NM_133455.4,NR_138044.2,XM_005261329.4,XM_006724224.5,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_024452208.2,XM_024452209.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000100263,ENSG00000186998,ENSG00000186998,129080,25807,129080,25807,129080,25807,129080,25807,129080,129080,129080,129080,129080,129080,129080,129080,25807,25807,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=RHBDD3,EMID1,EMID1,EMID1,RHBDD3,EMID1,EMID1,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8394;gnomADv4_1_AC_joint_XX=4057;gnomADv4_1_AC_joint_XY=4337;gnomADv4_1_AF_grpmax_joint=0.0739387;gnomADv4_1_AF_joint=0.0554184;gnomADv4_1_AF_joint_XX=0.0524025;gnomADv4_1_AF_joint_XY=0.0585717;gnomADv4_1_AN_grpmax_joint=67840;gnomADv4_1_AN_joint=151466;gnomADv4_1_AN_joint_XX=77420;gnomADv4_1_AN_joint_XY=74046;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=343;gnomADv4_1_nhomalt_joint_XX=155;gnomADv4_1_nhomalt_joint_XY=188;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29255031 chr22_29255031_CCTCA_C CCTCA C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=1.794;CADDIndel_Rawscore=0.135155;CSQ=-|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||||||||||rs3066721|4837|-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||CTCA|CTCA||||chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||14/14|ENST00000334018.11:c.1204+750_1204+753del|||||||rs3066721||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||13/13|ENST00000404755.7:c.1141+750_1141+753del|||||||rs3066721||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||13/14|ENST00000404820.7:c.1120-234_1120-231del|||||||rs3066721||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||||||||||rs3066721|4869|-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||CTCA|CTCA||||chr22:g.29255037_29255040del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs3066721|227|1||HGNC|HGNC:18036|2||||||||Ensembl||CTCA|CTCA||||chr22:g.29255037_29255040del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||7/7|ENST00000488820.6:n.449-234_449-231del|||||||rs3066721||1||HGNC|HGNC:18036|3||||||||Ensembl||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||14/14|NM_001267895.2:c.1198+750_1198+753del|||||||rs3066721||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||||||||||rs3066721|4817|-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||CTCA|CTCA||||chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||13/14|NM_001410828.1:c.1120-234_1120-231del|||||||rs3066721||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||||||||||rs3066721|4837|-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||CTCA|CTCA||||chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||14/14|NM_133455.4:c.1204+750_1204+753del|||||||rs3066721||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||||||||||rs3066721|4837|-1||EntrezGene|HGNC:1308|||||||||RefSeq||CTCA|CTCA||||chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||12/13|XM_005261329.4:c.1036-234_1036-231del|||||||rs3066721||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||||||||||rs3066721|4817|-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||CTCA|CTCA||||chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||14/15|XM_011529868.4:c.1171-234_1171-231del|||||||rs3066721||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||15/15|XM_011529869.4:c.1255+750_1255+753del|||||||rs3066721||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-3780_1171-3777del|||||||rs3066721||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||13/14|XM_011529871.4:c.1087-234_1087-231del|||||||rs3066721||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||14/15|XM_011529872.4:c.1171-234_1171-231del|||||||rs3066721||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||15/15|XM_011529873.4:c.1256-234_1256-231del|||||||rs3066721||1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||10/11|XM_011529875.2:c.706-234_706-231del|||||||rs3066721||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||10/11|XM_011529876.2:c.634-234_634-231del|||||||rs3066721||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding||||||||||rs3066721|4817|-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||CTCA|CTCA||||chr22:g.29255037_29255040del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding||||||||||rs3066721|4817|-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||CTCA|CTCA||||chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||14/14|XM_047441133.1:c.1171+750_1171+753del|||||||rs3066721||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-3780_1120-3777del|||||||rs3066721||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||13/13|XM_047441135.1:c.1120+750_1120+753del|||||||rs3066721||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||14/14|XM_047441136.1:c.1205-234_1205-231del|||||||rs3066721||1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||13/13|XM_047441137.1:c.1121-234_1121-231del|||||||rs3066721||1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||16/16|XR_937808.4:n.1559+750_1559+753del|||||||rs3066721||1||EntrezGene|HGNC:18036|||||||||RefSeq||CTCA|CTCA|||5|chr22:g.29255037_29255040del|||||||||||||;SpliceAI=C|EMID1|0.02|0.00|0.00|0.00|-19|31|48|-19;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216085,ENST00000334018,ENST00000404755,ENST00000404820,ENST00000413137,ENST00000487477,ENST00000488820,NM_001267895.2,NM_001329536.1,NM_001410828.1,NM_012265.3,NM_133455.4,NR_138044.2,XM_005261329.4,XM_006724224.5,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_024452208.2,XM_024452209.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000100263,ENSG00000186998,ENSG00000186998,129080,25807,129080,25807,129080,25807,129080,25807,129080,129080,129080,129080,129080,129080,129080,129080,25807,25807,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=RHBDD3,EMID1,EMID1,EMID1,RHBDD3,EMID1,EMID1,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98496;gnomADv4_1_AC_joint_XX=51228;gnomADv4_1_AC_joint_XY=47268;gnomADv4_1_AF_grpmax_joint=0.685621;gnomADv4_1_AF_joint=0.649778;gnomADv4_1_AF_joint_XX=0.660887;gnomADv4_1_AF_joint_XY=0.638153;gnomADv4_1_AN_grpmax_joint=67848;gnomADv4_1_AN_joint=151584;gnomADv4_1_AN_joint_XX=77514;gnomADv4_1_AN_joint_XY=74070;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=32491;gnomADv4_1_nhomalt_joint_XX=17112;gnomADv4_1_nhomalt_joint_XY=15379;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29256169 chr22_29256169_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.019;CADD_Rawscore=-1.07978;CSQ=A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||||||||||rs16987328|3703|-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||14/14|ENST00000334018.11:c.1204+1882G>A|||||||rs16987328||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||13/13|ENST00000404755.7:c.1141+1882G>A|||||||rs16987328||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||14/14|ENST00000404820.7:c.1210+808G>A|||||||rs16987328||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29256169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||||||||||rs16987328|3735|-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||G|G||||chr22:g.29256169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding||||||||||rs16987328|4643|-1|cds_end_NF|HGNC|HGNC:1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||G|G||||chr22:g.29256169G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000237015|Transcript|ENST00000433125|lncRNA||||||||||rs16987328|4720|1||||3||||||||Ensembl||G|G||||chr22:g.29256169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs16987328|1364|1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29256169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs16987328|557|1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29256169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000496342|retained_intron||||||||||rs16987328|4330|-1||HGNC|HGNC:1308|2||||||||Ensembl||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||14/14|NM_001267895.2:c.1198+1882G>A|||||||rs16987328||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||||||||||rs16987328|3683|-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||14/14|NM_001410828.1:c.1210+808G>A|||||||rs16987328||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||||||||||rs16987328|3703|-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||14/14|NM_133455.4:c.1204+1882G>A|||||||rs16987328||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||||||||||rs16987328|3703|-1||EntrezGene|HGNC:1308|||||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||13/13|XM_005261329.4:c.1126+808G>A|||||||rs16987328||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||||||||||rs16987328|3683|-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||15/15|XM_011529868.4:c.1261+808G>A|||||||rs16987328||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||15/15|XM_011529869.4:c.1255+1882G>A|||||||rs16987328||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-2648G>A|||||||rs16987328||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||14/14|XM_011529871.4:c.1177+808G>A|||||||rs16987328||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||15/15|XM_011529872.4:c.1261+808G>A|||||||rs16987328||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs16987328|808|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||11/11|XM_011529875.2:c.796+808G>A|||||||rs16987328||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||11/11|XM_011529876.2:c.724+808G>A|||||||rs16987328||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding||||||||||rs16987328|3683|-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding||||||||||rs16987328|3683|-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||14/14|XM_047441133.1:c.1171+1882G>A|||||||rs16987328||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-2648G>A|||||||rs16987328||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||13/13|XM_047441135.1:c.1120+1882G>A|||||||rs16987328||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs16987328|808|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs16987328|808|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||16/16|XR_937808.4:n.1559+1882G>A|||||||rs16987328||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29256169G>A|||||||||||||;SpliceAI=A|EMID1|0.00|0.00|0.00|0.00|37|-49|-24|-46;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216085,ENST00000334018,ENST00000404755,ENST00000404820,ENST00000413137,ENST00000414672,ENST00000433125,ENST00000487477,ENST00000488820,ENST00000496342,NM_001267895.2,NM_001329536.1,NM_001410828.1,NM_012265.3,NM_133455.4,NR_138044.2,XM_005261329.4,XM_006724224.5,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_024452208.2,XM_024452209.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000100263,ENSG00000100263,ENSG00000237015,ENSG00000186998,ENSG00000186998,ENSG00000100263,129080,25807,129080,25807,129080,25807,129080,25807,129080,129080,129080,129080,129080,129080,129080,129080,25807,25807,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=RHBDD3,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,.,EMID1,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15661;gnomADv4_1_AC_joint_XX=7505;gnomADv4_1_AC_joint_XY=8156;gnomADv4_1_AF_grpmax_joint=0.2799;gnomADv4_1_AF_joint=0.103042;gnomADv4_1_AF_joint_XX=0.096582;gnomADv4_1_AF_joint_XY=0.109801;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1211;gnomADv4_1_nhomalt_joint_XX=530;gnomADv4_1_nhomalt_joint_XY=681;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29257575 chr22_29257575_T_C T C 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.814;CADD_Rawscore=-0.070597;CSQ=C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||||||||||rs2857463|2297|-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||14/14|ENST00000334018.11:c.1205-1242T>C|||||||rs2857463||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||13/13|ENST00000404755.7:c.1142-1242T>C|||||||rs2857463||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||14/14|ENST00000404820.7:c.1211-1242T>C|||||||rs2857463||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T||||chr22:g.29257575T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||||||||||rs2857463|2329|-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||T|T||||chr22:g.29257575T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding||||||||||rs2857463|3237|-1|cds_end_NF|HGNC|HGNC:1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||T|T||||chr22:g.29257575T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000237015|Transcript|ENST00000433125|lncRNA||||||||||rs2857463|3314|1||||3||||||||Ensembl||T|T||||chr22:g.29257575T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs2857463|2770|1||HGNC|HGNC:18036|2||||||||Ensembl||T|T||||chr22:g.29257575T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs2857463|1963|1||HGNC|HGNC:18036|3||||||||Ensembl||T|T||||chr22:g.29257575T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000496342|retained_intron||||||||||rs2857463|2924|-1||HGNC|HGNC:1308|2||||||||Ensembl||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||14/14|NM_001267895.2:c.1199-1242T>C|||||||rs2857463||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||||||||||rs2857463|2277|-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||14/14|NM_001410828.1:c.1211-1242T>C|||||||rs2857463||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||||||||||rs2857463|2297|-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||14/14|NM_133455.4:c.1205-1242T>C|||||||rs2857463||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||||||||||rs2857463|2297|-1||EntrezGene|HGNC:1308|||||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||13/13|XM_005261329.4:c.1127-1242T>C|||||||rs2857463||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||||||||||rs2857463|2277|-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||15/15|XM_011529868.4:c.1262-1242T>C|||||||rs2857463||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||15/15|XM_011529869.4:c.1256-1242T>C|||||||rs2857463||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-1242T>C|||||||rs2857463||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||14/14|XM_011529871.4:c.1178-1242T>C|||||||rs2857463||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||15/15|XM_011529872.4:c.1262-735T>C|||||||rs2857463||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs2857463|2214|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||11/11|XM_011529875.2:c.797-1242T>C|||||||rs2857463||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||11/11|XM_011529876.2:c.725-1242T>C|||||||rs2857463||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding||||||||||rs2857463|2277|-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding||||||||||rs2857463|2277|-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||14/14|XM_047441133.1:c.1172-1242T>C|||||||rs2857463||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-1242T>C|||||||rs2857463||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||13/13|XM_047441135.1:c.1121-1242T>C|||||||rs2857463||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs2857463|2214|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs2857463|2214|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||16/16|XR_937808.4:n.1560-1242T>C|||||||rs2857463||1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29257575T>C|||||||||||||;SpliceAI=C|EMID1|0.00|0.00|0.00|0.00|-17|45|-13|14;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216085,ENST00000334018,ENST00000404755,ENST00000404820,ENST00000413137,ENST00000414672,ENST00000433125,ENST00000487477,ENST00000488820,ENST00000496342,NM_001267895.2,NM_001329536.1,NM_001410828.1,NM_012265.3,NM_133455.4,NR_138044.2,XM_005261329.4,XM_006724224.5,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_024452208.2,XM_024452209.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000100263,ENSG00000100263,ENSG00000237015,ENSG00000186998,ENSG00000186998,ENSG00000100263,129080,25807,129080,25807,129080,25807,129080,25807,129080,129080,129080,129080,129080,129080,129080,129080,25807,25807,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=RHBDD3,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,.,EMID1,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=148240;gnomADv4_1_AC_joint_XX=75822;gnomADv4_1_AC_joint_XY=72418;gnomADv4_1_AF_grpmax_joint=0.996599;gnomADv4_1_AF_joint=0.973649;gnomADv4_1_AF_joint_XX=0.974225;gnomADv4_1_AF_joint_XY=0.973046;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152252;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=72178;gnomADv4_1_nhomalt_joint_XX=36939;gnomADv4_1_nhomalt_joint_XY=35239;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29257622 chr22_29257622_G_A G A 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.562;CADD_Rawscore=-0.164003;CSQ=A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||||||||||rs2744465|2250|-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||14/14|ENST00000334018.11:c.1205-1195G>A|||||||rs2744465||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||13/13|ENST00000404755.7:c.1142-1195G>A|||||||rs2744465||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||14/14|ENST00000404820.7:c.1211-1195G>A|||||||rs2744465||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29257622G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||||||||||rs2744465|2282|-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||G|G||||chr22:g.29257622G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding||||||||||rs2744465|3190|-1|cds_end_NF|HGNC|HGNC:1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||G|G||||chr22:g.29257622G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000237015|Transcript|ENST00000433125|lncRNA||||||||||rs2744465|3267|1||||3||||||||Ensembl||G|G||||chr22:g.29257622G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs2744465|2817|1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29257622G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs2744465|2010|1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29257622G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000496342|retained_intron||||||||||rs2744465|2877|-1||HGNC|HGNC:1308|2||||||||Ensembl||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||14/14|NM_001267895.2:c.1199-1195G>A|||||||rs2744465||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||||||||||rs2744465|2230|-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||14/14|NM_001410828.1:c.1211-1195G>A|||||||rs2744465||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||||||||||rs2744465|2250|-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||14/14|NM_133455.4:c.1205-1195G>A|||||||rs2744465||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||||||||||rs2744465|2250|-1||EntrezGene|HGNC:1308|||||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||13/13|XM_005261329.4:c.1127-1195G>A|||||||rs2744465||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||||||||||rs2744465|2230|-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||15/15|XM_011529868.4:c.1262-1195G>A|||||||rs2744465||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||15/15|XM_011529869.4:c.1256-1195G>A|||||||rs2744465||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-1195G>A|||||||rs2744465||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||14/14|XM_011529871.4:c.1178-1195G>A|||||||rs2744465||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||15/15|XM_011529872.4:c.1262-688G>A|||||||rs2744465||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs2744465|2261|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||11/11|XM_011529875.2:c.797-1195G>A|||||||rs2744465||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||11/11|XM_011529876.2:c.725-1195G>A|||||||rs2744465||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding||||||||||rs2744465|2230|-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding||||||||||rs2744465|2230|-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||14/14|XM_047441133.1:c.1172-1195G>A|||||||rs2744465||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-1195G>A|||||||rs2744465||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||13/13|XM_047441135.1:c.1121-1195G>A|||||||rs2744465||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs2744465|2261|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs2744465|2261|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||16/16|XR_937808.4:n.1560-1195G>A|||||||rs2744465||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29257622G>A|||||||||||||;SpliceAI=A|EMID1|0.02|0.00|0.00|0.00|-2|-1|41|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216085,ENST00000334018,ENST00000404755,ENST00000404820,ENST00000413137,ENST00000414672,ENST00000433125,ENST00000487477,ENST00000488820,ENST00000496342,NM_001267895.2,NM_001329536.1,NM_001410828.1,NM_012265.3,NM_133455.4,NR_138044.2,XM_005261329.4,XM_006724224.5,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_024452208.2,XM_024452209.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000100263,ENSG00000100263,ENSG00000237015,ENSG00000186998,ENSG00000186998,ENSG00000100263,129080,25807,129080,25807,129080,25807,129080,25807,129080,129080,129080,129080,129080,129080,129080,129080,25807,25807,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=RHBDD3,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,.,EMID1,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73627;gnomADv4_1_AC_joint_XX=38464;gnomADv4_1_AC_joint_XY=35163;gnomADv4_1_AF_grpmax_joint=0.611379;gnomADv4_1_AF_joint=0.484121;gnomADv4_1_AF_joint_XX=0.49479;gnomADv4_1_AF_joint_XY=0.472964;gnomADv4_1_AN_grpmax_joint=41480;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=19002;gnomADv4_1_nhomalt_joint_XX=10045;gnomADv4_1_nhomalt_joint_XY=8957;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29257940 chr22_29257940_G_T G T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.737;CADD_Rawscore=-0.095908;CSQ=T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||||||||||rs762817|1932|-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||14/14|ENST00000334018.11:c.1205-877G>T|||||||rs762817||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||13/13|ENST00000404755.7:c.1142-877G>T|||||||rs762817||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||14/14|ENST00000404820.7:c.1211-877G>T|||||||rs762817||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29257940G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||||||||||rs762817|1964|-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||G|G||||chr22:g.29257940G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding||||||||||rs762817|2872|-1|cds_end_NF|HGNC|HGNC:1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||G|G||||chr22:g.29257940G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000237015|Transcript|ENST00000433125|lncRNA||||||||||rs762817|2949|1||||3||||||||Ensembl||G|G||||chr22:g.29257940G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs762817|3135|1||HGNC|HGNC:18036|2||||||||Ensembl||G|G||||chr22:g.29257940G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs762817|2328|1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29257940G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000496342|retained_intron||||||||||rs762817|2559|-1||HGNC|HGNC:1308|2||||||||Ensembl||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||14/14|NM_001267895.2:c.1199-877G>T|||||||rs762817||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||||||||||rs762817|1912|-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||14/14|NM_001410828.1:c.1211-877G>T|||||||rs762817||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||||||||||rs762817|1932|-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||14/14|NM_133455.4:c.1205-877G>T|||||||rs762817||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||||||||||rs762817|1932|-1||EntrezGene|HGNC:1308|||||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||13/13|XM_005261329.4:c.1127-877G>T|||||||rs762817||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||||||||||rs762817|1912|-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||15/15|XM_011529868.4:c.1262-877G>T|||||||rs762817||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||15/15|XM_011529869.4:c.1256-877G>T|||||||rs762817||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-877G>T|||||||rs762817||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||14/14|XM_011529871.4:c.1178-877G>T|||||||rs762817||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||15/15|XM_011529872.4:c.1262-370G>T|||||||rs762817||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs762817|2579|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||11/11|XM_011529875.2:c.797-877G>T|||||||rs762817||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||11/11|XM_011529876.2:c.725-877G>T|||||||rs762817||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding||||||||||rs762817|1912|-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding||||||||||rs762817|1912|-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||14/14|XM_047441133.1:c.1172-877G>T|||||||rs762817||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-877G>T|||||||rs762817||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||13/13|XM_047441135.1:c.1121-877G>T|||||||rs762817||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs762817|2579|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs762817|2579|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||16/16|XR_937808.4:n.1560-877G>T|||||||rs762817||1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29257940G>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|5|-24|3|23;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216085,ENST00000334018,ENST00000404755,ENST00000404820,ENST00000413137,ENST00000414672,ENST00000433125,ENST00000487477,ENST00000488820,ENST00000496342,NM_001267895.2,NM_001329536.1,NM_001410828.1,NM_012265.3,NM_133455.4,NR_138044.2,XM_005261329.4,XM_006724224.5,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_024452208.2,XM_024452209.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000100263,ENSG00000100263,ENSG00000237015,ENSG00000186998,ENSG00000186998,ENSG00000100263,129080,25807,129080,25807,129080,25807,129080,25807,129080,129080,129080,129080,129080,129080,129080,129080,25807,25807,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=RHBDD3,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,.,EMID1,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28260;gnomADv4_1_AC_joint_XX=13770;gnomADv4_1_AC_joint_XY=14490;gnomADv4_1_AF_grpmax_joint=0.369394;gnomADv4_1_AF_joint=0.185862;gnomADv4_1_AF_joint_XX=0.177152;gnomADv4_1_AF_joint_XY=0.194973;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3005;gnomADv4_1_nhomalt_joint_XX=1365;gnomADv4_1_nhomalt_joint_XY=1640;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29258015 chr22_29258015_C_T C T 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.056;CADD_Rawscore=-0.003804;CSQ=T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||||||||||rs909798|1857|-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||14/14|ENST00000334018.11:c.1205-802C>T|||||||rs909798||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||13/13|ENST00000404755.7:c.1142-802C>T|||||||rs909798||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||14/14|ENST00000404820.7:c.1211-802C>T|||||||rs909798||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29258015C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||||||||||rs909798|1889|-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||C|C||||chr22:g.29258015C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding||||||||||rs909798|2797|-1|cds_end_NF|HGNC|HGNC:1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||C|C||||chr22:g.29258015C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000237015|Transcript|ENST00000433125|lncRNA||||||||||rs909798|2874|1||||3||||||||Ensembl||C|C||||chr22:g.29258015C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs909798|3210|1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29258015C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs909798|2403|1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29258015C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000496342|retained_intron||||||||||rs909798|2484|-1||HGNC|HGNC:1308|2||||||||Ensembl||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||14/14|NM_001267895.2:c.1199-802C>T|||||||rs909798||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||||||||||rs909798|1837|-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||14/14|NM_001410828.1:c.1211-802C>T|||||||rs909798||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||||||||||rs909798|1857|-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||14/14|NM_133455.4:c.1205-802C>T|||||||rs909798||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||||||||||rs909798|1857|-1||EntrezGene|HGNC:1308|||||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||13/13|XM_005261329.4:c.1127-802C>T|||||||rs909798||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||||||||||rs909798|1837|-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||15/15|XM_011529868.4:c.1262-802C>T|||||||rs909798||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||15/15|XM_011529869.4:c.1256-802C>T|||||||rs909798||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-802C>T|||||||rs909798||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||14/14|XM_011529871.4:c.1178-802C>T|||||||rs909798||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||15/15|XM_011529872.4:c.1262-295C>T|||||||rs909798||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs909798|2654|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||11/11|XM_011529875.2:c.797-802C>T|||||||rs909798||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||11/11|XM_011529876.2:c.725-802C>T|||||||rs909798||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding||||||||||rs909798|1837|-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding||||||||||rs909798|1837|-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||14/14|XM_047441133.1:c.1172-802C>T|||||||rs909798||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-802C>T|||||||rs909798||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||13/13|XM_047441135.1:c.1121-802C>T|||||||rs909798||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs909798|2654|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs909798|2654|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||16/16|XR_937808.4:n.1560-802C>T|||||||rs909798||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29258015C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|25|-26|25|43;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216085,ENST00000334018,ENST00000404755,ENST00000404820,ENST00000413137,ENST00000414672,ENST00000433125,ENST00000487477,ENST00000488820,ENST00000496342,NM_001267895.2,NM_001329536.1,NM_001410828.1,NM_012265.3,NM_133455.4,NR_138044.2,XM_005261329.4,XM_006724224.5,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_024452208.2,XM_024452209.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000100263,ENSG00000100263,ENSG00000237015,ENSG00000186998,ENSG00000186998,ENSG00000100263,129080,25807,129080,25807,129080,25807,129080,25807,129080,129080,129080,129080,129080,129080,129080,129080,25807,25807,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=RHBDD3,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,.,EMID1,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96839;gnomADv4_1_AC_joint_XX=49785;gnomADv4_1_AC_joint_XY=47054;gnomADv4_1_AF_grpmax_joint=0.68543;gnomADv4_1_AF_joint=0.637006;gnomADv4_1_AF_joint_XX=0.640552;gnomADv4_1_AF_joint_XY=0.633297;gnomADv4_1_AN_grpmax_joint=15278;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=31216;gnomADv4_1_nhomalt_joint_XX=16124;gnomADv4_1_nhomalt_joint_XY=15092;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29258357 chr22_29258357_GCA_G GCA G 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=6.277;CADDIndel_Rawscore=0.581523;CSQ=-|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||||||||||rs766225973|1513|-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||CA|CA||||chr22:g.29258360_29258361del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||14/14|ENST00000334018.11:c.1205-457_1205-456del|||||||rs766225973||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||13/13|ENST00000404755.7:c.1142-457_1142-456del|||||||rs766225973||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||,-|intron_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||14/14|ENST00000404820.7:c.1211-457_1211-456del|||||||rs766225973||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||||||||||rs766225973|1545|-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||CA|CA||||chr22:g.29258360_29258361del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding||||||||||rs766225973|2453|-1|cds_end_NF|HGNC|HGNC:1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||CA|CA||||chr22:g.29258360_29258361del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000237015|Transcript|ENST00000433125|lncRNA||||||||||rs766225973|2530|1||||3||||||||Ensembl||CA|CA||||chr22:g.29258360_29258361del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs766225973|3553|1||HGNC|HGNC:18036|2||||||||Ensembl||CA|CA||||chr22:g.29258360_29258361del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs766225973|2746|1||HGNC|HGNC:18036|3||||||||Ensembl||CA|CA||||chr22:g.29258360_29258361del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000496342|retained_intron||||||||||rs766225973|2140|-1||HGNC|HGNC:1308|2||||||||Ensembl||CA|CA||||chr22:g.29258360_29258361del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||14/14|NM_001267895.2:c.1199-457_1199-456del|||||||rs766225973||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||||||||||rs766225973|1493|-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||CA|CA||||chr22:g.29258360_29258361del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||14/14|NM_001410828.1:c.1211-457_1211-456del|||||||rs766225973||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||||||||||rs766225973|1513|-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||CA|CA||||chr22:g.29258360_29258361del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||14/14|NM_133455.4:c.1205-457_1205-456del|||||||rs766225973||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||||||||||rs766225973|1513|-1||EntrezGene|HGNC:1308|||||||||RefSeq||CA|CA||||chr22:g.29258360_29258361del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||13/13|XM_005261329.4:c.1127-457_1127-456del|||||||rs766225973||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||||||||||rs766225973|1493|-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||CA|CA||||chr22:g.29258360_29258361del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||15/15|XM_011529868.4:c.1262-457_1262-456del|||||||rs766225973||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||15/15|XM_011529869.4:c.1256-457_1256-456del|||||||rs766225973||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||14/14|XM_011529870.4:c.1171-457_1171-456del|||||||rs766225973||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||14/14|XM_011529871.4:c.1178-457_1178-456del|||||||rs766225973||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding|16/16||XM_011529872.4:c.*40_*41del||1453-1454|||||rs766225973||1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs766225973|2997|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||CA|CA||||chr22:g.29258360_29258361del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||11/11|XM_011529875.2:c.797-457_797-456del|||||||rs766225973||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||11/11|XM_011529876.2:c.725-457_725-456del|||||||rs766225973||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding||||||||||rs766225973|1493|-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||CA|CA||||chr22:g.29258360_29258361del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding||||||||||rs766225973|1493|-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||CA|CA||||chr22:g.29258360_29258361del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||14/14|XM_047441133.1:c.1172-457_1172-456del|||||||rs766225973||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||13/13|XM_047441134.1:c.1120-457_1120-456del|||||||rs766225973||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||,-|intron_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||13/13|XM_047441135.1:c.1121-457_1121-456del|||||||rs766225973||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs766225973|2997|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||CA|CA||||chr22:g.29258360_29258361del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs766225973|2997|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||CA|CA||||chr22:g.29258360_29258361del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||16/16|XR_937808.4:n.1560-457_1560-456del|||||||rs766225973||1||EntrezGene|HGNC:18036|||||||||RefSeq||CA|CA|||2|chr22:g.29258360_29258361del|||||||||||||;SpliceAI=G|EMID1|0.02|0.00|0.03|0.00|-47|4|8|4;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216085,ENST00000334018,ENST00000404755,ENST00000404820,ENST00000413137,ENST00000414672,ENST00000433125,ENST00000487477,ENST00000488820,ENST00000496342,NM_001267895.2,NM_001329536.1,NM_001410828.1,NM_012265.3,NM_133455.4,NR_138044.2,XM_005261329.4,XM_006724224.5,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_024452208.2,XM_024452209.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000100263,ENSG00000100263,ENSG00000237015,ENSG00000186998,ENSG00000186998,ENSG00000100263,129080,25807,129080,25807,129080,25807,129080,25807,129080,129080,129080,129080,129080,129080,129080,129080,25807,25807,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=RHBDD3,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,.,EMID1,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=125;gnomADv4_1_AC_joint_XX=58;gnomADv4_1_AC_joint_XY=67;gnomADv4_1_AF_grpmax_joint=0.000235239;gnomADv4_1_AF_joint=0.000821579;gnomADv4_1_AF_joint_XX=0.000745425;gnomADv4_1_AF_joint_XY=0.000901289;gnomADv4_1_AN_grpmax_joint=68016;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29259382 chr22_29259382_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=7.617;CADD_Rawscore=0.72598;CSQ=T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||||||||||rs8550|490|-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||C|C||||chr22:g.29259382C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding|15/15||ENST00000334018.11:c.*438C>T||1913|||||rs8550||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29259382C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding|14/14||ENST00000404755.7:c.*438C>T||1834|||||rs8550||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29259382C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding|15/15||ENST00000404820.7:c.*438C>T||1903|||||rs8550||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29259382C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000406335|protein_coding||||||||||rs8550|4575|-1|cds_end_NF|HGNC|HGNC:1308|2||ENSP00000384113||B0QYJ2.85|UPI0001611071|||Ensembl||C|C||||chr22:g.29259382C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||||||||||rs8550|522|-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||C|C||||chr22:g.29259382C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding||||||||||rs8550|1430|-1|cds_end_NF|HGNC|HGNC:1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||C|C||||chr22:g.29259382C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000237015|Transcript|ENST00000433125|lncRNA||||||||||rs8550|1507|1||||3||||||||Ensembl||C|C||||chr22:g.29259382C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs8550|4577|1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29259382C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs8550|3770|1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29259382C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000496342|retained_intron||||||||||rs8550|1117|-1||HGNC|HGNC:1308|2||||||||Ensembl||C|C||||chr22:g.29259382C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding|15/15||NM_001267895.2:c.*438C>T||1907|||||rs8550||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||||||||||rs8550|470|-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding|15/15||NM_001410828.1:c.*438C>T||1919|||||rs8550||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||||||||||rs8550|490|-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding|15/15||NM_133455.4:c.*438C>T||1913|||||rs8550||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||||||||||rs8550|490|-1||EntrezGene|HGNC:1308|||||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding|14/14||XM_005261329.4:c.*438C>T||1835|||||rs8550||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||||||||||rs8550|470|-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding|16/16||XM_011529868.4:c.*438C>T||1970|||||rs8550||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding|16/16||XM_011529869.4:c.*438C>T||1964|||||rs8550||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding|15/15||XM_011529870.4:c.*419C>T||1879|||||rs8550||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding|15/15||XM_011529871.4:c.*438C>T||1886|||||rs8550||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs8550|575|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs8550|4021|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding|12/12||XM_011529875.2:c.*438C>T||1448|||||rs8550||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding|12/12||XM_011529876.2:c.*438C>T||1400|||||rs8550||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding||||||||||rs8550|470|-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding||||||||||rs8550|470|-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding|15/15||XM_047441133.1:c.*438C>T||1880|||||rs8550||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding|14/14||XM_047441134.1:c.*419C>T||1828|||||rs8550||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding|14/14||XM_047441135.1:c.*438C>T||1829|||||rs8550||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs8550|4021|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs8550|4021|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA|17/17||XR_937808.4:n.2125C>T||2125|||||rs8550||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29259382C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|19|-7|-2|13;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216085,ENST00000334018,ENST00000404755,ENST00000404820,ENST00000406335,ENST00000413137,ENST00000414672,ENST00000433125,ENST00000487477,ENST00000488820,ENST00000496342,NM_001267895.2,NM_001329536.1,NM_001410828.1,NM_012265.3,NM_133455.4,NR_138044.2,XM_005261329.4,XM_006724224.5,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_024452208.2,XM_024452209.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000100263,ENSG00000100263,ENSG00000100263,ENSG00000237015,ENSG00000186998,ENSG00000186998,ENSG00000100263,129080,25807,129080,25807,129080,25807,129080,25807,129080,129080,129080,129080,129080,129080,129080,129080,25807,25807,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=RHBDD3,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,RHBDD3,.,EMID1,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=158257;gnomADv4_1_AC_joint_XX=79515;gnomADv4_1_AC_joint_XY=78742;gnomADv4_1_AF_grpmax_joint=0.880222;gnomADv4_1_AF_joint=0.825873;gnomADv4_1_AF_joint_XX=0.822932;gnomADv4_1_AF_joint_XY=0.828863;gnomADv4_1_AN_grpmax_joint=11012;gnomADv4_1_AN_joint=191624;gnomADv4_1_AN_joint_XX=96624;gnomADv4_1_AN_joint_XY=95000;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=65533;gnomADv4_1_nhomalt_joint_XX=32775;gnomADv4_1_nhomalt_joint_XY=32758;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29259427 chr22_29259427_C_T C T 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.451;CADD_Rawscore=-0.218733;CSQ=T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||||||||||rs9537|445|-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||C|C||||chr22:g.29259427C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding|15/15||ENST00000334018.11:c.*483C>T||1958|||||rs9537||1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29259427C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding|14/14||ENST00000404755.7:c.*483C>T||1879|||||rs9537||1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29259427C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding|15/15||ENST00000404820.7:c.*483C>T||1948|||||rs9537||1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29259427C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000406335|protein_coding||||||||||rs9537|4530|-1|cds_end_NF|HGNC|HGNC:1308|2||ENSP00000384113||B0QYJ2.85|UPI0001611071|||Ensembl||C|C||||chr22:g.29259427C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||||||||||rs9537|477|-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||C|C||||chr22:g.29259427C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding||||||||||rs9537|1385|-1|cds_end_NF|HGNC|HGNC:1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||C|C||||chr22:g.29259427C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000237015|Transcript|ENST00000433125|lncRNA||||||||||rs9537|1462|1||||3||||||||Ensembl||C|C||||chr22:g.29259427C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000487477|retained_intron||||||||||rs9537|4622|1||HGNC|HGNC:18036|2||||||||Ensembl||C|C||||chr22:g.29259427C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs9537|3815|1||HGNC|HGNC:18036|3||||||||Ensembl||C|C||||chr22:g.29259427C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000496342|retained_intron||||||||||rs9537|1072|-1||HGNC|HGNC:1308|2||||||||Ensembl||C|C||||chr22:g.29259427C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding|15/15||NM_001267895.2:c.*483C>T||1952|||||rs9537||1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||||||||||rs9537|425|-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding|15/15||NM_001410828.1:c.*483C>T||1964|||||rs9537||1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||||||||||rs9537|445|-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding|15/15||NM_133455.4:c.*483C>T||1958|||||rs9537||1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||||||||||rs9537|445|-1||EntrezGene|HGNC:1308|||||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding|14/14||XM_005261329.4:c.*483C>T||1880|||||rs9537||1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||||||||||rs9537|425|-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding|16/16||XM_011529868.4:c.*483C>T||2015|||||rs9537||1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding|16/16||XM_011529869.4:c.*483C>T||2009|||||rs9537||1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding|15/15||XM_011529870.4:c.*464C>T||1924|||||rs9537||1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding|15/15||XM_011529871.4:c.*483C>T||1931|||||rs9537||1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs9537|620|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529873.4|protein_coding||||||||||rs9537|4066|1||EntrezGene|HGNC:18036|||XP_011528175.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding|12/12||XM_011529875.2:c.*483C>T||1493|||||rs9537||1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding|12/12||XM_011529876.2:c.*483C>T||1445|||||rs9537||1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding||||||||||rs9537|425|-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding||||||||||rs9537|425|-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding|15/15||XM_047441133.1:c.*483C>T||1925|||||rs9537||1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding|14/14||XM_047441134.1:c.*464C>T||1873|||||rs9537||1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding|14/14||XM_047441135.1:c.*483C>T||1874|||||rs9537||1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441136.1|protein_coding||||||||||rs9537|4066|1||EntrezGene|HGNC:18036|||XP_047297092.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441137.1|protein_coding||||||||||rs9537|4066|1||EntrezGene|HGNC:18036|||XP_047297093.1||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA|17/17||XR_937808.4:n.2170C>T||2170|||||rs9537||1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29259427C>T|||||||||||||;SpliceAI=T|EMID1|0.00|0.00|0.00|0.00|19|-26|-32|39;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216085,ENST00000334018,ENST00000404755,ENST00000404820,ENST00000406335,ENST00000413137,ENST00000414672,ENST00000433125,ENST00000487477,ENST00000488820,ENST00000496342,NM_001267895.2,NM_001329536.1,NM_001410828.1,NM_012265.3,NM_133455.4,NR_138044.2,XM_005261329.4,XM_006724224.5,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529873.4,XM_011529875.2,XM_011529876.2,XM_024452208.2,XM_024452209.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441136.1,XM_047441137.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000100263,ENSG00000100263,ENSG00000100263,ENSG00000237015,ENSG00000186998,ENSG00000186998,ENSG00000100263,129080,25807,129080,25807,129080,25807,129080,25807,129080,129080,129080,129080,129080,129080,129080,129080,25807,25807,129080,129080,129080,129080,129080,129080;VEP_SYMBOL=RHBDD3,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,RHBDD3,.,EMID1,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49442;gnomADv4_1_AC_joint_XX=24823;gnomADv4_1_AC_joint_XY=24619;gnomADv4_1_AF_grpmax_joint=0.471356;gnomADv4_1_AF_joint=0.293254;gnomADv4_1_AF_joint_XX=0.289103;gnomADv4_1_AF_joint_XY=0.297561;gnomADv4_1_AN_grpmax_joint=41614;gnomADv4_1_AN_joint=168598;gnomADv4_1_AN_joint_XX=85862;gnomADv4_1_AN_joint_XY=82736;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8507;gnomADv4_1_nhomalt_joint_XX=4270;gnomADv4_1_nhomalt_joint_XY=4237;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29260400 chr22_29260400_G_T G T 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=3.884;CADD_Rawscore=0.354934;CSQ=T|synonymous_variant|LOW|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding|6/7||ENST00000216085.12%3Ac.909C>A|ENSP00000216085.7%3Ap.Ala303%3D|1337|909|303|A|gcC/gcA|rs2231398||-1||HGNC|HGNC%3A1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||G|G||||chr22%3Ag.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs2231398|803|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs2231398|803|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs2231398|803|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000406335|protein_coding||||||||||rs2231398|3557|-1|cds_end_NF|HGNC|HGNC:1308|2||ENSP00000384113||B0QYJ2.85|UPI0001611071|||Ensembl||G|G||||chr22:g.29260400G>T|||1||||||||||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay|6/7||ENST00000413137.6:c.*485C>A||1147|||||rs2231398||-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding||||||||||rs2231398|412|-1|cds_end_NF|HGNC|HGNC:1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||G|G||||chr22:g.29260400G>T|||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000237015|Transcript|ENST00000433125|lncRNA||||||||||rs2231398|489|1||||3||||||||Ensembl||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000488820|retained_intron||||||||||rs2231398|4788|1||HGNC|HGNC:18036|3||||||||Ensembl||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000493894|retained_intron||||||||||rs2231398|4635|-1||HGNC|HGNC:1308|2||||||||Ensembl||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000496342|retained_intron||||||||||rs2231398|99|-1||HGNC|HGNC:1308|2||||||||Ensembl||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs2231398|803|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29260400G>T|||1||||||||||,T|synonymous_variant|LOW|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding|6/7||NM_001329536.1%3Ac.909C>A|NP_001316465.1%3Ap.Ala303%3D|1178|909|303|A|gcC/gcA|rs2231398||-1||EntrezGene|HGNC%3A1308|||NP_001316465.1||||||RefSeq||G|G||||chr22%3Ag.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs2231398|803|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29260400G>T|||1||||||||||,T|synonymous_variant|LOW|RHBDD3|25807|Transcript|NM_012265.3|protein_coding|6/7||NM_012265.3%3Ac.909C>A|NP_036397.1%3Ap.Ala303%3D|1337|909|303|A|gcC/gcA|rs2231398||-1||EntrezGene|HGNC%3A1308|||NP_036397.1||||||RefSeq||G|G||||chr22%3Ag.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs2231398|803|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29260400G>T|||1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA|6/7||NR_138044.2:n.1179C>A||1179|||||rs2231398||-1||EntrezGene|HGNC:1308|||||||||RefSeq||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs2231398|803|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29260400G>T|||1||||||||||,T|synonymous_variant|LOW|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding|5/6||XM_006724224.5%3Ac.525C>A|XP_006724287.1%3Ap.Ala175%3D|953|525|175|A|gcC/gcA|rs2231398||-1||EntrezGene|HGNC%3A1308|||XP_006724287.1||||||RefSeq||G|G||||chr22%3Ag.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs2231398|803|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs2231398|803|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs2231398|803|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs2231398|803|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs2231398|1593|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs2231398|803|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs2231398|803|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29260400G>T|||1||||||||||,T|synonymous_variant|LOW|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding|5/6||XM_024452208.2%3Ac.918C>A|XP_024307976.1%3Ap.Ala306%3D|2597|918|306|A|gcC/gcA|rs2231398||-1||EntrezGene|HGNC%3A1308|||XP_024307976.1||||||RefSeq||G|G||||chr22%3Ag.29260400G>T|||1||||||||||,T|synonymous_variant|LOW|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding|5/6||XM_024452209.2%3Ac.918C>A|XP_024307977.1%3Ap.Ala306%3D|2438|918|306|A|gcC/gcA|rs2231398||-1||EntrezGene|HGNC%3A1308|||XP_024307977.1||||||RefSeq||G|G||||chr22%3Ag.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs2231398|803|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs2231398|803|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs2231398|803|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29260400G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs2231398|803|1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29260400G>T|||1||||||||||;SpliceAI=T|RHBDD3|0.00|0.00|0.00|0.00|23|-20|3|32;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216085,ENST00000334018,ENST00000404755,ENST00000404820,ENST00000406335,ENST00000413137,ENST00000414672,ENST00000433125,ENST00000488820,ENST00000493894,ENST00000496342,NM_001267895.2,NM_001329536.1,NM_001410828.1,NM_012265.3,NM_133455.4,NR_138044.2,XM_005261329.4,XM_006724224.5,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529875.2,XM_011529876.2,XM_024452208.2,XM_024452209.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000100263,ENSG00000100263,ENSG00000100263,ENSG00000237015,ENSG00000186998,ENSG00000100263,ENSG00000100263,129080,25807,129080,25807,129080,25807,129080,25807,129080,129080,129080,129080,129080,129080,129080,25807,25807,129080,129080,129080,129080;VEP_SYMBOL=RHBDD3,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,RHBDD3,.,EMID1,RHBDD3,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=522717;gnomADv4_1_AC_joint_XX=264664;gnomADv4_1_AC_joint_XY=258053;gnomADv4_1_AF_grpmax_joint=0.407725;gnomADv4_1_AF_joint=0.324345;gnomADv4_1_AF_joint_XX=0.326188;gnomADv4_1_AF_joint_XY=0.322478;gnomADv4_1_AN_grpmax_joint=6058;gnomADv4_1_AN_joint=1611606;gnomADv4_1_AN_joint_XX=811386;gnomADv4_1_AN_joint_XY=800220;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=91503;gnomADv4_1_nhomalt_joint_XX=46379;gnomADv4_1_nhomalt_joint_XY=45124;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29261615 chr22_29261615_C_T C T 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.249;CADD_Rawscore=-0.369913;CSQ=T|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||4/6|ENST00000216085.12:c.533-751G>A|||||||rs2857466||-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs2857466|2018|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs2857466|2018|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs2857466|2018|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000406335|protein_coding||||||||||rs2857466|2342|-1|cds_end_NF|HGNC|HGNC:1308|2||ENSP00000384113||B0QYJ2.85|UPI0001611071|||Ensembl||C|C||||chr22:g.29261615C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||3/6|ENST00000413137.6:c.149-190G>A|||||||rs2857466||-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||C|C||||chr22:g.29261615C>T|||||||||||||,T|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding||4/4|ENST00000414672.5:c.533-751G>A|||||||rs2857466||-1|cds_end_NF|HGNC|HGNC:1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||C|C||||chr22:g.29261615C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000237015|Transcript|ENST00000433125|lncRNA||1/1|ENST00000433125.1:n.192-229C>T|||||||rs2857466||1||||3||||||||Ensembl||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000488106|retained_intron||||||||||rs2857466|3831|-1||HGNC|HGNC:1308|5||||||||Ensembl||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000493894|retained_intron||||||||||rs2857466|3420|-1||HGNC|HGNC:1308|2||||||||Ensembl||C|C||||chr22:g.29261615C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000496342|retained_intron||1/2|ENST00000496342.1:n.568-747G>A|||||||rs2857466||-1||HGNC|HGNC:1308|2||||||||Ensembl||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs2857466|2018|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|intron_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||4/6|NM_001329536.1:c.533-751G>A|||||||rs2857466||-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs2857466|2018|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|intron_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||4/6|NM_012265.3:c.533-751G>A|||||||rs2857466||-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs2857466|2018|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||3/6|NR_138044.2:n.577-190G>A|||||||rs2857466||-1||EntrezGene|HGNC:1308|||||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs2857466|2018|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|intron_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||3/5|XM_006724224.5:c.149-751G>A|||||||rs2857466||-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs2857466|2018|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs2857466|2018|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs2857466|2018|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs2857466|2018|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs2857466|2808|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs2857466|2018|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs2857466|2018|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|intron_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding||3/5|XM_024452208.2:c.542-751G>A|||||||rs2857466||-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|intron_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding||3/5|XM_024452209.2:c.542-751G>A|||||||rs2857466||-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs2857466|2018|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs2857466|2018|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs2857466|2018|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs2857466|2018|1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29261615C>T|||||||||||||;SpliceAI=T|RHBDD3|0.05|0.00|0.00|0.00|-23|-50|-23|-11;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216085,ENST00000334018,ENST00000404755,ENST00000404820,ENST00000406335,ENST00000413137,ENST00000414672,ENST00000433125,ENST00000488106,ENST00000493894,ENST00000496342,NM_001267895.2,NM_001329536.1,NM_001410828.1,NM_012265.3,NM_133455.4,NR_138044.2,XM_005261329.4,XM_006724224.5,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529875.2,XM_011529876.2,XM_024452208.2,XM_024452209.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000100263,ENSG00000100263,ENSG00000100263,ENSG00000237015,ENSG00000100263,ENSG00000100263,ENSG00000100263,129080,25807,129080,25807,129080,25807,129080,25807,129080,129080,129080,129080,129080,129080,129080,25807,25807,129080,129080,129080,129080;VEP_SYMBOL=RHBDD3,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,RHBDD3,.,RHBDD3,RHBDD3,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98216;gnomADv4_1_AC_joint_XX=50547;gnomADv4_1_AC_joint_XY=47669;gnomADv4_1_AF_grpmax_joint=0.696148;gnomADv4_1_AF_joint=0.646507;gnomADv4_1_AF_joint_XX=0.650809;gnomADv4_1_AF_joint_XY=0.642007;gnomADv4_1_AN_grpmax_joint=41428;gnomADv4_1_AN_joint=151918;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=32174;gnomADv4_1_nhomalt_joint_XX=16648;gnomADv4_1_nhomalt_joint_XY=15526;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29262139 chr22_29262139_CT_C;chr22_29262139_CTTTT_C CT C 43 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.354;CADDIndel_Rawscore=-0.280293;CSQ=-|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||4/6|ENST00000216085.12:c.533-1276del|||||||rs34614149||-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs34614149|2543|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs34614149|2543|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs34614149|2543|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000406335|protein_coding||||||||||rs34614149|1817|-1|cds_end_NF|HGNC|HGNC:1308|2||ENSP00000384113||B0QYJ2.85|UPI0001611071|||Ensembl||T|T||||chr22:g.29262159del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||3/6|ENST00000413137.6:c.149-715del|||||||rs34614149||-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||T|T||||chr22:g.29262159del|||||||||||||,-|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding||4/4|ENST00000414672.5:c.533-1276del|||||||rs34614149||-1|cds_end_NF|HGNC|HGNC:1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000237015|Transcript|ENST00000433125|lncRNA||||||||||rs34614149|103|1||||3||||||||Ensembl||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000488106|retained_intron||||||||||rs34614149|3306|-1||HGNC|HGNC:1308|5||||||||Ensembl||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000493894|retained_intron||||||||||rs34614149|2895|-1||HGNC|HGNC:1308|2||||||||Ensembl||T|T||||chr22:g.29262159del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000496342|retained_intron||1/2|ENST00000496342.1:n.568-1272del|||||||rs34614149||-1||HGNC|HGNC:1308|2||||||||Ensembl||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|intron_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||4/6|NM_001329536.1:c.533-1276del|||||||rs34614149||-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|intron_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||4/6|NM_012265.3:c.533-1276del|||||||rs34614149||-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||3/6|NR_138044.2:n.577-715del|||||||rs34614149||-1||EntrezGene|HGNC:1308|||||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|intron_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||3/5|XM_006724224.5:c.149-1276del|||||||rs34614149||-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs34614149|3333|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|intron_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding||3/5|XM_024452208.2:c.542-1276del|||||||rs34614149||-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|intron_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding||3/5|XM_024452209.2:c.542-1276del|||||||rs34614149||-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||||||||RefSeq||T|T||||chr22:g.29262159del|||||||||||||;SpliceAI=C|RHBDD3|0.00|0.00|0.00|0.00|18|47|2|-2;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216085,ENST00000334018,ENST00000404755,ENST00000404820,ENST00000406335,ENST00000413137,ENST00000414672,ENST00000433125,ENST00000488106,ENST00000493894,ENST00000496342,NM_001267895.2,NM_001329536.1,NM_001410828.1,NM_012265.3,NM_133455.4,NR_138044.2,XM_005261329.4,XM_006724224.5,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529875.2,XM_011529876.2,XM_024452208.2,XM_024452209.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000100263,ENSG00000100263,ENSG00000100263,ENSG00000237015,ENSG00000100263,ENSG00000100263,ENSG00000100263,129080,25807,129080,25807,129080,25807,129080,25807,129080,129080,129080,129080,129080,129080,129080,25807,25807,129080,129080,129080,129080;VEP_SYMBOL=RHBDD3,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,RHBDD3,.,RHBDD3,RHBDD3,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42474;gnomADv4_1_AC_joint_XX=22962;gnomADv4_1_AC_joint_XY=19512;gnomADv4_1_AF_grpmax_joint=0.547619;gnomADv4_1_AF_joint=0.474549;gnomADv4_1_AF_joint_XX=0.477559;gnomADv4_1_AF_joint_XY=0.471054;gnomADv4_1_AN_grpmax_joint=126;gnomADv4_1_AN_joint=89504;gnomADv4_1_AN_joint_XX=48082;gnomADv4_1_AN_joint_XY=41422;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4110;gnomADv4_1_nhomalt_joint_XX=2062;gnomADv4_1_nhomalt_joint_XY=2048;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29262139 chr22_29262139_CT_C;chr22_29262139_CTTTT_C CTTTT C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADDIndel_PHREDscore=0.827;CADDIndel_Rawscore=-0.066736;CSQ=-|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||4/6|ENST00000216085.12:c.533-1279_533-1276del|||||||rs34614149||-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs34614149|2543|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs34614149|2543|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs34614149|2543|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000406335|protein_coding||||||||||rs34614149|1814|-1|cds_end_NF|HGNC|HGNC:1308|2||ENSP00000384113||B0QYJ2.85|UPI0001611071|||Ensembl||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||3/6|ENST00000413137.6:c.149-718_149-715del|||||||rs34614149||-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding||4/4|ENST00000414672.5:c.533-1279_533-1276del|||||||rs34614149||-1|cds_end_NF|HGNC|HGNC:1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000237015|Transcript|ENST00000433125|lncRNA||||||||||rs34614149|103|1||||3||||||||Ensembl||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000488106|retained_intron||||||||||rs34614149|3303|-1||HGNC|HGNC:1308|5||||||||Ensembl||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000493894|retained_intron||||||||||rs34614149|2892|-1||HGNC|HGNC:1308|2||||||||Ensembl||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000496342|retained_intron||1/2|ENST00000496342.1:n.568-1275_568-1272del|||||||rs34614149||-1||HGNC|HGNC:1308|2||||||||Ensembl||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|intron_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||4/6|NM_001329536.1:c.533-1279_533-1276del|||||||rs34614149||-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|intron_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||4/6|NM_012265.3:c.533-1279_533-1276del|||||||rs34614149||-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||3/6|NR_138044.2:n.577-718_577-715del|||||||rs34614149||-1||EntrezGene|HGNC:1308|||||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|intron_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||3/5|XM_006724224.5:c.149-1279_149-1276del|||||||rs34614149||-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs34614149|3333|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|intron_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding||3/5|XM_024452208.2:c.542-1279_542-1276del|||||||rs34614149||-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|intron_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding||3/5|XM_024452209.2:c.542-1279_542-1276del|||||||rs34614149||-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||,-|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs34614149|2543|1||EntrezGene|HGNC:18036|||||||||RefSeq||TTTT|TTTT||||chr22:g.29262156_29262159del|||||||||||||;SpliceAI=C|RHBDD3|0.00|0.00|0.00|0.00|-32|47|-32|14;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216085,ENST00000334018,ENST00000404755,ENST00000404820,ENST00000406335,ENST00000413137,ENST00000414672,ENST00000433125,ENST00000488106,ENST00000493894,ENST00000496342,NM_001267895.2,NM_001329536.1,NM_001410828.1,NM_012265.3,NM_133455.4,NR_138044.2,XM_005261329.4,XM_006724224.5,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529875.2,XM_011529876.2,XM_024452208.2,XM_024452209.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000186998,ENSG00000186998,ENSG00000186998,ENSG00000100263,ENSG00000100263,ENSG00000100263,ENSG00000237015,ENSG00000100263,ENSG00000100263,ENSG00000100263,129080,25807,129080,25807,129080,25807,129080,25807,129080,129080,129080,129080,129080,129080,129080,25807,25807,129080,129080,129080,129080;VEP_SYMBOL=RHBDD3,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,RHBDD3,.,RHBDD3,RHBDD3,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,RHBDD3,RHBDD3,EMID1,EMID1,EMID1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17163;gnomADv4_1_AC_joint_XX=8764;gnomADv4_1_AC_joint_XY=8399;gnomADv4_1_AF_grpmax_joint=0.402958;gnomADv4_1_AF_joint=0.187484;gnomADv4_1_AF_joint_XX=0.178043;gnomADv4_1_AF_joint_XY=0.198464;gnomADv4_1_AN_grpmax_joint=2772;gnomADv4_1_AN_joint=91544;gnomADv4_1_AN_joint_XX=49224;gnomADv4_1_AN_joint_XY=42320;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1008;gnomADv4_1_nhomalt_joint_XX=451;gnomADv4_1_nhomalt_joint_XY=557;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29263726 chr22_29263726_G_A G A 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.073;CADD_Rawscore=-0.697556;CSQ=A|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||4/6|ENST00000216085.12:c.532+109C>T|||||||rs2231396||-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||||||||||rs2231396|4565|1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||G|G||1||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||||||||||rs2231396|4600|1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||G|G||1||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||||||||||rs2231396|4283|1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||G|G||1||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||||||||||rs2231396|4542|1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||G|G||1||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs2231396|4129|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||||||||||rs2231396|4542|1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||G|G||1||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs2231396|4129|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs2231396|4129|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000406335|protein_coding||||||||||rs2231396|231|-1|cds_end_NF|HGNC|HGNC:1308|2||ENSP00000384113||B0QYJ2.85|UPI0001611071|||Ensembl||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||||||||||rs2231396|4547|1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||G|G||1||chr22:g.29263726G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||3/6|ENST00000413137.6:c.148+1753C>T|||||||rs2231396||-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||||||||||rs2231396|4590|1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||G|G||1||chr22:g.29263726G>A|||||||||||||,A|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding||4/4|ENST00000414672.5:c.532+109C>T|||||||rs2231396||-1|cds_end_NF|HGNC|HGNC:1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||||||||||rs2231396|4564|1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||G|G||1||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000237015|Transcript|ENST00000433125|lncRNA||||||||||rs2231396|1689|1||||3||||||||Ensembl||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||||||||||rs2231396|4527|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||G|G||1||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||||||||||rs2231396|4556|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||G|G||1||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs2231396|4283|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||G|G||1||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||||||||||rs2231396|4527|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||G|G||1||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||||||||||rs2231396|4600|1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||G|G||1||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||||||||||rs2231396|4587|1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||||||||||rs2231396|4547|1||HGNC|HGNC:3508|5||||||||Ensembl||G|G||1||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000488106|retained_intron||||||||||rs2231396|1720|-1||HGNC|HGNC:1308|5||||||||Ensembl||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000493894|retained_intron||||||||||rs2231396|1309|-1||HGNC|HGNC:1308|2||||||||Ensembl||G|G||||chr22:g.29263726G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000496342|retained_intron||1/2|ENST00000496342.1:n.567+109C>T|||||||rs2231396||-1||HGNC|HGNC:1308|2||||||||Ensembl||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||||||||||rs2231396|4283|1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||G|G||1||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs2231396|4129|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|intron_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||4/6|NM_001329536.1:c.532+109C>T|||||||rs2231396||-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs2231396|4129|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|intron_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||4/6|NM_012265.3:c.532+109C>T|||||||rs2231396||-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs2231396|4129|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||3/6|NR_138044.2:n.576+1753C>T|||||||rs2231396||-1||EntrezGene|HGNC:1308|||||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs2231396|4129|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|intron_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||3/5|XM_006724224.5:c.148+1753C>T|||||||rs2231396||-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs2231396|4129|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs2231396|4129|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs2231396|4129|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs2231396|4129|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529872.4|protein_coding||||||||||rs2231396|4919|1||EntrezGene|HGNC:18036|||XP_011528174.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs2231396|4129|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs2231396|4129|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|intron_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding||3/5|XM_024452208.2:c.541+109C>T|||||||rs2231396||-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|intron_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding||3/5|XM_024452209.2:c.541+109C>T|||||||rs2231396||-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs2231396|4129|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs2231396|4129|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs2231396|4129|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||||||||||rs2231396|4542|1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs2231396|4129|1||EntrezGene|HGNC:18036|||||||||RefSeq||G|G||||chr22:g.29263726G>A|||||||||||||;SpliceAI=A|RHBDD3|0.00|0.00|0.00|0.00|-18|-31|28|-29;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216085,ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000334018,ENST00000397938,ENST00000404755,ENST00000404820,ENST00000406335,ENST00000406548,ENST00000413137,ENST00000414183,ENST00000414672,ENST00000415761,ENST00000433125,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000483415,ENST00000485037,ENST00000488106,ENST00000493894,ENST00000496342,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_001267895.2,NM_001329536.1,NM_001410828.1,NM_005243.4,NM_012265.3,NM_013986.4,NM_133455.4,NR_138044.2,XM_005261329.4,XM_005261389.5,XM_005261390.5,XM_006724224.5,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529872.4,XM_011529875.2,XM_011529876.2,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_024452208.2,XM_024452209.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000186998,ENSG00000182944,ENSG00000186998,ENSG00000186998,ENSG00000100263,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000237015,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000100263,ENSG00000100263,ENSG00000100263,ENSG00000182944,2130,2130,2130,129080,25807,129080,2130,25807,2130,129080,25807,129080,2130,2130,25807,129080,129080,129080,129080,129080,129080,129080,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,25807,25807,129080,129080,129080,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,129080;VEP_SYMBOL=RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EMID1,EWSR1,EMID1,EMID1,RHBDD3,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,RHBDD3,RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EMID1,RHBDD3,EMID1,EWSR1,RHBDD3,EWSR1,EMID1,RHBDD3,EMID1,EWSR1,EWSR1,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,RHBDD3,EMID1,EMID1,EMID1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=106970;gnomADv4_1_AC_joint_XX=56318;gnomADv4_1_AC_joint_XY=50652;gnomADv4_1_AF_grpmax_joint=0.0855448;gnomADv4_1_AF_joint=0.0746487;gnomADv4_1_AF_joint_XX=0.07619;gnomADv4_1_AF_joint_XY=0.0730066;gnomADv4_1_AN_grpmax_joint=1092808;gnomADv4_1_AN_joint=1432978;gnomADv4_1_AN_joint_XX=739178;gnomADv4_1_AN_joint_XY=693800;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4523;gnomADv4_1_nhomalt_joint_XX=2403;gnomADv4_1_nhomalt_joint_XY=2120;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29263971 chr22_29263971_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=2.262;CADD_Rawscore=0.196698;CSQ=T|synonymous_variant|LOW|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding|4/7||ENST00000216085.12%3Ac.396G>A|ENSP00000216085.7%3Ap.Glu132%3D|824|396|132|E|gaG/gaA|rs879580||-1||HGNC|HGNC%3A1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||C|C||||chr22%3Ag.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||||||||||rs879580|4320|1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||C|C||1||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||||||||||rs879580|4355|1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||C|C||1||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||||||||||rs879580|4038|1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||C|C||1||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||||||||||rs879580|4297|1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||C|C||1||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000334018|protein_coding||||||||||rs879580|4374|1||HGNC|HGNC:18036|1|CCDS33630.1|ENSP00000335481|Q96A84.153||UPI00001A796B|Q96A84-3||Ensembl||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||||||||||rs879580|4297|1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||C|C||1||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404755|protein_coding||||||||||rs879580|4374|1||HGNC|HGNC:18036|5||ENSP00000385414||B0QYK4.90|UPI0000D4EC99|||Ensembl||C|C||||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|ENSG00000186998|Transcript|ENST00000404820|protein_coding||||||||||rs879580|4374|1||HGNC|HGNC:18036|5|CCDS93143.1|ENSP00000384452||B0QYK5.104|UPI0000D4E50D|||Ensembl||C|C||||chr22:g.29263971C>T|||||||||||||,T|synonymous_variant|LOW|RHBDD3|ENSG00000100263|Transcript|ENST00000406335|protein_coding|3/3||ENST00000406335.1%3Ac.396G>A|ENSP00000384113.1%3Ap.Glu132%3D|741|396|132|E|gaG/gaA|rs879580||-1|cds_end_NF|HGNC|HGNC%3A1308|2||ENSP00000384113||B0QYJ2.85|UPI0001611071|||Ensembl||C|C||||chr22%3Ag.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||||||||||rs879580|4302|1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||C|C||1||chr22:g.29263971C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||3/6|ENST00000413137.6:c.148+1508G>A|||||||rs879580||-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||||||||||rs879580|4345|1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||C|C||1||chr22:g.29263971C>T|||||||||||||,T|synonymous_variant|LOW|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding|4/5||ENST00000414672.5%3Ac.396G>A|ENSP00000413128.1%3Ap.Glu132%3D|711|396|132|E|gaG/gaA|rs879580||-1|cds_end_NF|HGNC|HGNC%3A1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||C|C||||chr22%3Ag.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||||||||||rs879580|4319|1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||C|C||1||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000237015|Transcript|ENST00000433125|lncRNA||||||||||rs879580|1934|1||||3||||||||Ensembl||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||||||||||rs879580|4282|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||C|C||1||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||||||||||rs879580|4311|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||C|C||1||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs879580|4038|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||C|C||1||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||||||||||rs879580|4282|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||C|C||1||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||||||||||rs879580|4355|1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||C|C||1||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||||||||||rs879580|4342|1||HGNC|HGNC:3508|1||||||||Ensembl||C|C||1||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||||||||||rs879580|4302|1||HGNC|HGNC:3508|5||||||||Ensembl||C|C||1||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000488106|retained_intron||||||||||rs879580|1475|-1||HGNC|HGNC:1308|5||||||||Ensembl||C|C||||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000493894|retained_intron||||||||||rs879580|1064|-1||HGNC|HGNC:1308|2||||||||Ensembl||C|C||||chr22:g.29263971C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000496342|retained_intron|1/3||ENST00000496342.1:n.431G>A||431|||||rs879580||-1||HGNC|HGNC:1308|2||||||||Ensembl||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||||||||||rs879580|4038|1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||C|C||1||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001267895.2|protein_coding||||||||||rs879580|4374|1||EntrezGene|HGNC:18036|||NP_001254824.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|synonymous_variant|LOW|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding|4/7||NM_001329536.1%3Ac.396G>A|NP_001316465.1%3Ap.Glu132%3D|665|396|132|E|gaG/gaA|rs879580||-1||EntrezGene|HGNC%3A1308|||NP_001316465.1||||||RefSeq||C|C||||chr22%3Ag.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_001410828.1|protein_coding||||||||||rs879580|4374|1||EntrezGene|HGNC:18036|||NP_001397757.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|synonymous_variant|LOW|RHBDD3|25807|Transcript|NM_012265.3|protein_coding|4/7||NM_012265.3%3Ac.396G>A|NP_036397.1%3Ap.Glu132%3D|824|396|132|E|gaG/gaA|rs879580||-1||EntrezGene|HGNC%3A1308|||NP_036397.1||||||RefSeq||C|C||||chr22%3Ag.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|NM_133455.4|protein_coding||||||||||rs879580|4374|1||EntrezGene|HGNC:18036|||NP_597712.2||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||3/6|NR_138044.2:n.576+1508G>A|||||||rs879580||-1||EntrezGene|HGNC:1308|||||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_005261329.4|protein_coding||||||||||rs879580|4374|1||EntrezGene|HGNC:18036|||XP_005261386.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|intron_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||3/5|XM_006724224.5:c.148+1508G>A|||||||rs879580||-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529868.4|protein_coding||||||||||rs879580|4374|1||EntrezGene|HGNC:18036|||XP_011528170.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529869.4|protein_coding||||||||||rs879580|4374|1||EntrezGene|HGNC:18036|||XP_011528171.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529870.4|protein_coding||||||||||rs879580|4374|1||EntrezGene|HGNC:18036|||XP_011528172.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529871.4|protein_coding||||||||||rs879580|4374|1||EntrezGene|HGNC:18036|||XP_011528173.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529875.2|protein_coding||||||||||rs879580|4374|1||EntrezGene|HGNC:18036|||XP_011528177.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_011529876.2|protein_coding||||||||||rs879580|4374|1||EntrezGene|HGNC:18036|||XP_011528178.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|synonymous_variant|LOW|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding|3/6||XM_024452208.2%3Ac.405G>A|XP_024307976.1%3Ap.Glu135%3D|2084|405|135|E|gaG/gaA|rs879580||-1||EntrezGene|HGNC%3A1308|||XP_024307976.1||||||RefSeq||C|C||||chr22%3Ag.29263971C>T|||||||||||||,T|synonymous_variant|LOW|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding|3/6||XM_024452209.2%3Ac.405G>A|XP_024307977.1%3Ap.Glu135%3D|1925|405|135|E|gaG/gaA|rs879580||-1||EntrezGene|HGNC%3A1308|||XP_024307977.1||||||RefSeq||C|C||||chr22%3Ag.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441133.1|protein_coding||||||||||rs879580|4374|1||EntrezGene|HGNC:18036|||XP_047297089.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441134.1|protein_coding||||||||||rs879580|4374|1||EntrezGene|HGNC:18036|||XP_047297090.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XM_047441135.1|protein_coding||||||||||rs879580|4374|1||EntrezGene|HGNC:18036|||XP_047297091.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||||||||||rs879580|4297|1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EMID1|129080|Transcript|XR_937808.4|misc_RNA||||||||||rs879580|4374|1||EntrezGene|HGNC:18036|||||||||RefSeq||C|C||||chr22:g.29263971C>T|||||||||||||;SpliceAI=T|RHBDD3|0.00|0.00|0.00|0.00|-2|-15|-38|41;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216085,ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000334018,ENST00000397938,ENST00000404755,ENST00000404820,ENST00000406335,ENST00000406548,ENST00000413137,ENST00000414183,ENST00000414672,ENST00000415761,ENST00000433125,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000483415,ENST00000485037,ENST00000488106,ENST00000493894,ENST00000496342,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_001267895.2,NM_001329536.1,NM_001410828.1,NM_005243.4,NM_012265.3,NM_013986.4,NM_133455.4,NR_138044.2,XM_005261329.4,XM_005261389.5,XM_005261390.5,XM_006724224.5,XM_011529868.4,XM_011529869.4,XM_011529870.4,XM_011529871.4,XM_011529875.2,XM_011529876.2,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_024452208.2,XM_024452209.2,XM_047441133.1,XM_047441134.1,XM_047441135.1,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1,XR_937808.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000186998,ENSG00000182944,ENSG00000186998,ENSG00000186998,ENSG00000100263,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000237015,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000100263,ENSG00000100263,ENSG00000100263,ENSG00000182944,2130,2130,2130,129080,25807,129080,2130,25807,2130,129080,25807,129080,2130,2130,25807,129080,129080,129080,129080,129080,129080,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,25807,25807,129080,129080,129080,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,129080;VEP_SYMBOL=RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EMID1,EWSR1,EMID1,EMID1,RHBDD3,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,RHBDD3,RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EMID1,RHBDD3,EMID1,EWSR1,RHBDD3,EWSR1,EMID1,RHBDD3,EMID1,EWSR1,EWSR1,RHBDD3,EMID1,EMID1,EMID1,EMID1,EMID1,EMID1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,RHBDD3,EMID1,EMID1,EMID1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EMID1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=287122;gnomADv4_1_AC_joint_XX=141596;gnomADv4_1_AC_joint_XY=145526;gnomADv4_1_AF_grpmax_joint=0.361212;gnomADv4_1_AF_joint=0.18514;gnomADv4_1_AF_joint_XX=0.180051;gnomADv4_1_AF_joint_XY=0.190375;gnomADv4_1_AN_grpmax_joint=84078;gnomADv4_1_AN_joint=1550836;gnomADv4_1_AN_joint_XX=786420;gnomADv4_1_AN_joint_XY=764416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=29862;gnomADv4_1_nhomalt_joint_XX=14092;gnomADv4_1_nhomalt_joint_XY=15770;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29265352 chr22_29265352_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.26;CADD_Rawscore=-0.358766;CSQ=A|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||3/6|ENST00000216085.12:c.148+127C>T|||||||rs2301290||-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||||||||||rs2301290|2939|1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||G|G||1||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||||||||||rs2301290|2974|1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||G|G||1||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||||||||||rs2301290|2657|1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||G|G||1||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||||||||||rs2301290|2916|1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||G|G||1||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||||||||||rs2301290|2916|1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||G|G||1||chr22:g.29265352G>A|||||||||||||,A|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000406335|protein_coding||2/2|ENST00000406335.1:c.148+127C>T|||||||rs2301290||-1|cds_end_NF|HGNC|HGNC:1308|2||ENSP00000384113||B0QYJ2.85|UPI0001611071|||Ensembl||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||||||||||rs2301290|2921|1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||G|G||1||chr22:g.29265352G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||3/6|ENST00000413137.6:c.148+127C>T|||||||rs2301290||-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||||||||||rs2301290|2964|1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||G|G||1||chr22:g.29265352G>A|||||||||||||,A|intron_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding||3/4|ENST00000414672.5:c.148+127C>T|||||||rs2301290||-1|cds_end_NF|HGNC|HGNC:1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||||||||||rs2301290|2938|1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||G|G||1||chr22:g.29265352G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000237015|Transcript|ENST00000433125|lncRNA||||||||||rs2301290|3315|1||||3||||||||Ensembl||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||||||||||rs2301290|2901|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||G|G||1||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||||||||||rs2301290|2930|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||G|G||1||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs2301290|2657|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||G|G||1||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||||||||||rs2301290|2901|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||G|G||1||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||||||||||rs2301290|2974|1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||G|G||1||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||||||||||rs2301290|2961|1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||||||||||rs2301290|2921|1||HGNC|HGNC:3508|5||||||||Ensembl||G|G||1||chr22:g.29265352G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000488106|retained_intron||||||||||rs2301290|94|-1||HGNC|HGNC:1308|5||||||||Ensembl||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000493426|retained_intron||||||||||rs2301290|3871|1||HGNC|HGNC:3508|3||||||||Ensembl||G|G||1||chr22:g.29265352G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000493894|retained_intron|3/3||ENST00000493894.1:n.682C>T||682|||||rs2301290||-1||HGNC|HGNC:1308|2||||||||Ensembl||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000496342|retained_intron||||||||||rs2301290|951|-1||HGNC|HGNC:1308|2||||||||Ensembl||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||||||||||rs2301290|2657|1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||G|G||1||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|intron_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||3/6|NM_001329536.1:c.148+127C>T|||||||rs2301290||-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|intron_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||3/6|NM_012265.3:c.148+127C>T|||||||rs2301290||-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||3/6|NR_138044.2:n.576+127C>T|||||||rs2301290||-1||EntrezGene|HGNC:1308|||||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|intron_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||3/5|XM_006724224.5:c.148+127C>T|||||||rs2301290||-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|5_prime_UTR_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding|3/6||XM_024452208.2:c.-977C>T||703|||||rs2301290||-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||0|0|21||,A|5_prime_UTR_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding|3/6||XM_024452209.2:c.-977C>T||544|||||rs2301290||-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||0|0|19||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||||||||||rs2301290|2916|1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||G|G||||chr22:g.29265352G>A|||||||||||||;SpliceAI=A|RHBDD3|0.00|0.00|0.01|0.00|2|-38|2|46;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216085,ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406335,ENST00000406548,ENST00000413137,ENST00000414183,ENST00000414672,ENST00000415761,ENST00000433125,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000483415,ENST00000485037,ENST00000488106,ENST00000493426,ENST00000493894,ENST00000496342,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_001329536.1,NM_005243.4,NM_012265.3,NM_013986.4,NR_138044.2,XM_005261389.5,XM_005261390.5,XM_006724224.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_024452208.2,XM_024452209.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000237015,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000100263,ENSG00000100263,ENSG00000182944,2130,2130,2130,25807,2130,25807,2130,25807,2130,2130,25807,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,25807,25807,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,EWSR1,RHBDD3,RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,EWSR1,RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,19,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=130292;gnomADv4_1_AC_joint_XX=62582;gnomADv4_1_AC_joint_XY=67710;gnomADv4_1_AF_grpmax_joint=0.354434;gnomADv4_1_AF_joint=0.179121;gnomADv4_1_AF_joint_XX=0.17266;gnomADv4_1_AF_joint_XY=0.185537;gnomADv4_1_AN_grpmax_joint=39714;gnomADv4_1_AN_joint=727398;gnomADv4_1_AN_joint_XX=362458;gnomADv4_1_AN_joint_XY=364940;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=13661;gnomADv4_1_nhomalt_joint_XX=6251;gnomADv4_1_nhomalt_joint_XY=7410;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29267516 chr22_29267516_GT_G GT G 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=5.578;CADDIndel_Rawscore=0.511234;CSQ=-|5_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding|2/7||ENST00000216085.12:c.-134del||295|||||rs929263269||-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||T|T||||chr22:g.29267518del|||||||||0|0|2||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||||||||||rs929263269|774|1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||T|T||1||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||||||||||rs929263269|809|1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||T|T||1||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||||||||||rs929263269|492|1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||T|T||1||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||||||||||rs929263269|751|1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||T|T||1||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||||||||||rs929263269|751|1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||T|T||1||chr22:g.29267518del|||||||||||||,-|5_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000406335|protein_coding|1/3||ENST00000406335.1:c.-134del||212|||||rs929263269||-1|cds_end_NF|HGNC|HGNC:1308|2||ENSP00000384113||B0QYJ2.85|UPI0001611071|||Ensembl||T|T||||chr22:g.29267518del|||||||||0|0|0||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||||||||||rs929263269|756|1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||T|T||1||chr22:g.29267518del|||||||||||||,-|5_prime_UTR_variant&NMD_transcript_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay|2/7||ENST00000413137.6:c.-134del||259|||||rs929263269||-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||T|T||||chr22:g.29267518del|||||||||0|0|2||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||||||||||rs929263269|799|1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||T|T||1||chr22:g.29267518del|||||||||||||,-|5_prime_UTR_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding|2/5||ENST00000414672.5:c.-134del||182|||||rs929263269||-1|cds_end_NF|HGNC|HGNC:1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||T|T||||chr22:g.29267518del|||||||||0|0|1||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||||||||||rs929263269|773|1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||T|T||1||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||||||||||rs929263269|736|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||T|T||1||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||||||||||rs929263269|765|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||T|T||1||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs929263269|492|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||T|T||1||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||||||||||rs929263269|736|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||T|T||1||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||||||||||rs929263269|809|1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||T|T||1||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||||||||||rs929263269|796|1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||||||||||rs929263269|756|1||HGNC|HGNC:3508|5||||||||Ensembl||T|T||1||chr22:g.29267518del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000488106|retained_intron|2/3||ENST00000488106.1:n.235del||235|||||rs929263269||-1||HGNC|HGNC:1308|5||||||||Ensembl||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000493426|retained_intron||||||||||rs929263269|1706|1||HGNC|HGNC:3508|3||||||||Ensembl||T|T||1||chr22:g.29267518del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000493894|retained_intron|2/3||ENST00000493894.1:n.274del||274|||||rs929263269||-1||HGNC|HGNC:1308|2||||||||Ensembl||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000496342|retained_intron||||||||||rs929263269|3116|-1||HGNC|HGNC:1308|2||||||||Ensembl||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||||||||||rs929263269|492|1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||T|T||1||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|5_prime_UTR_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding|2/7||NM_001329536.1:c.-134del||136|||||rs929263269||-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||0|0|0||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|5_prime_UTR_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding|2/7||NM_012265.3:c.-134del||295|||||rs929263269||-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||0|0|2||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA|2/7||NR_138044.2:n.295del||295|||||rs929263269||-1||EntrezGene|HGNC:1308|||||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|5_prime_UTR_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding|2/6||XM_006724224.5:c.-134del||295|||||rs929263269||-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||0|0|2||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|5_prime_UTR_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding|2/6||XM_024452208.2:c.-1385del||295|||||rs929263269||-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||0|0|21||,-|5_prime_UTR_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding|2/6||XM_024452209.2:c.-1385del||136|||||rs929263269||-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||0|0|19||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||||||||||rs929263269|751|1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||T|T||||chr22:g.29267518del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4WF5|enhancer||||||||||rs929263269|||||||||||||||||||||chr22:g.29267518del|||||||||||||;SpliceAI=G|RHBDD3|0.00|0.00|0.00|0.00|-43|-4|33|8;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216085,ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406335,ENST00000406548,ENST00000413137,ENST00000414183,ENST00000414672,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000483415,ENST00000485037,ENST00000488106,ENST00000493426,ENST00000493894,ENST00000496342,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_001329536.1,NM_005243.4,NM_012265.3,NM_013986.4,NR_138044.2,XM_005261389.5,XM_005261390.5,XM_006724224.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_024452208.2,XM_024452209.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1,ENSR22_C4WF5;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100263,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000100263,ENSG00000100263,ENSG00000182944,2130,2130,2130,25807,2130,25807,2130,25807,2130,2130,25807,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,25807,25807,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,.;VEP_SYMBOL=RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,EWSR1,RHBDD3,RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,EWSR1,RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,.;VEP_existing_InFrame_oORFs=0,.,.,.,.,.,0,.,0,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,0,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=0,.,.,.,.,.,0,.,0,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,0,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=2,.,.,.,.,.,0,.,2,.,1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,2,.,.,.,.,2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,19,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6;gnomADv4_1_AC_joint_XX=4;gnomADv4_1_AC_joint_XY=2;gnomADv4_1_AF_grpmax_joint=0.000412371;gnomADv4_1_AF_joint=3.92403e-05;gnomADv4_1_AF_joint_XX=5.12518e-05;gnomADv4_1_AF_joint_XY=2.67173e-05;gnomADv4_1_AN_grpmax_joint=4850;gnomADv4_1_AN_joint=152904;gnomADv4_1_AN_joint_XX=78046;gnomADv4_1_AN_joint_XY=74858;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29268434 chr22_29268434_G_A G A 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=5.926;CADD_Rawscore=0.54572;CSQ=A|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||||||||||rs2301291|453|-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||1/14|ENST00000331029.11:c.13+85G>A|||||||rs2301291||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||G|G||1||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||1/15|ENST00000332035.10:c.13+85G>A|||||||rs2301291||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||G|G||1||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||1/16|ENST00000332050.10:c.13+85G>A|||||||rs2301291||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||G|G||1||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||1/8|ENST00000333395.11:c.13+85G>A|||||||rs2301291||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||G|G||1||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||1/16|ENST00000397938.7:c.13+85G>A|||||||rs2301291||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||G|G||1||chr22:g.29268434G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000406335|protein_coding||||||||||rs2301291|706|-1|cds_end_NF|HGNC|HGNC:1308|2||ENSP00000384113||B0QYJ2.85|UPI0001611071|||Ensembl||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||1/16|ENST00000406548.5:c.13+85G>A|||||||rs2301291||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||G|G||1||chr22:g.29268434G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||||||||||rs2301291|489|-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||1/17|ENST00000414183.6:c.13+85G>A|||||||rs2301291||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||G|G||1||chr22:g.29268434G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding||||||||||rs2301291|225|-1|cds_end_NF|HGNC|HGNC:1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||1/5|ENST00000415761.5:c.13+85G>A|||||||rs2301291||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||G|G||1||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||1/6|ENST00000436425.5:c.13+85G>A|||||||rs2301291||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||G|G||1||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||1/7|ENST00000437155.6:c.13+85G>A|||||||rs2301291||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||G|G||1||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||1/4|ENST00000444626.5:c.13+85G>A|||||||rs2301291||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||G|G||1||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||1/6|ENST00000447973.5:c.13+85G>A|||||||rs2301291||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||G|G||1||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||1/6|ENST00000455726.5:c.13+85G>A|||||||rs2301291||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||G|G||1||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||1/7|ENST00000483415.5:n.37+85G>A|||||||rs2301291||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||1/4|ENST00000485037.5:n.77+85G>A|||||||rs2301291||1||HGNC|HGNC:3508|5||||||||Ensembl||G|G||1||chr22:g.29268434G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000488106|retained_intron||||||||||rs2301291|513|-1||HGNC|HGNC:1308|5||||||||Ensembl||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000493426|retained_intron||||||||||rs2301291|789|1||HGNC|HGNC:3508|3||||||||Ensembl||G|G||1||chr22:g.29268434G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000493894|retained_intron||||||||||rs2301291|474|-1||HGNC|HGNC:1308|2||||||||Ensembl||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000496342|retained_intron||||||||||rs2301291|4033|-1||HGNC|HGNC:1308|2||||||||Ensembl||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||1/14|ENST00000629659.2:c.13+85G>A|||||||rs2301291||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||G|G||1||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||1/16|NM_001163285.2:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||1/15|NM_001163286.2:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||1/8|NM_001163287.2:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||||||||||rs2301291|271|-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||1/16|NM_005243.4:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||||||||||rs2301291|453|-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||1/17|NM_013986.4:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||||||||||rs2301291|453|-1||EntrezGene|HGNC:1308|||||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||1/16|XM_005261389.5:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||1/15|XM_005261390.5:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||||||||||rs2301291|453|-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||1/16|XM_011529995.4:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||1/16|XM_011529996.4:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||1/16|XM_011529997.3:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||1/16|XM_011529998.3:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||1/16|XM_011529999.4:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||1/16|XM_011530000.3:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||1/15|XM_011530001.3:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||1/14|XM_011530002.4:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||1/16|XM_017028644.3:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||1/16|XM_017028645.3:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||1/16|XM_017028646.3:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||1/16|XM_017028647.3:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||1/16|XM_017028648.3:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||1/15|XM_017028649.3:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||1/15|XM_017028650.3:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||1/15|XM_017028651.3:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||1/15|XM_017028652.3:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||1/15|XM_017028653.3:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||1/15|XM_017028654.2:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||1/15|XM_017028655.2:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||1/15|XM_017028656.3:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||1/15|XM_017028658.2:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||1/15|XM_017028659.2:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||1/15|XM_017028660.3:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||1/15|XM_017028662.3:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||1/14|XM_017028663.2:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||1/14|XM_024452180.2:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||1/14|XM_024452181.2:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding||||||||||rs2301291|453|-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding||||||||||rs2301291|271|-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||1/16|XM_047441186.1:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||1/16|XM_047441187.1:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||1/15|XM_047441188.1:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||1/15|XM_047441189.1:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||1/15|XM_047441190.1:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||1/15|XM_047441191.1:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||1/15|XM_047441192.1:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||1/14|XM_047441193.1:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||1/15|XM_047441194.1:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||1/14|XM_047441195.1:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||1/14|XM_047441196.1:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||1/15|XM_047441197.1:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||1/14|XM_047441198.1:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||1/13|XM_047441199.1:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||1/13|XM_047441200.1:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||1/13|XM_047441201.1:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||1/7|XM_047441202.1:c.13+85G>A|||||||rs2301291||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||G|G||||chr22:g.29268434G>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29268434G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=EWSR1:2130;ClinVar_Variation_ID=1246240;SpliceAI=A|EWSR1|0.00|0.00|0.00|0.00|3|1|-29|5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216085,ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406335,ENST00000406548,ENST00000413137,ENST00000414183,ENST00000414672,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000483415,ENST00000485037,ENST00000488106,ENST00000493426,ENST00000493894,ENST00000496342,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_001329536.1,NM_005243.4,NM_012265.3,NM_013986.4,NR_138044.2,XM_005261389.5,XM_005261390.5,XM_006724224.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_024452208.2,XM_024452209.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000100263,ENSG00000100263,ENSG00000182944,2130,2130,2130,25807,2130,25807,2130,25807,2130,2130,25807,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,25807,25807,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,EWSR1,RHBDD3,RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,EWSR1,RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=565808;gnomADv4_1_AC_joint_XX=283849;gnomADv4_1_AC_joint_XY=281959;gnomADv4_1_AF_grpmax_joint=0.656656;gnomADv4_1_AF_joint=0.351117;gnomADv4_1_AF_joint_XX=0.349977;gnomADv4_1_AF_joint_XY=0.352273;gnomADv4_1_AN_grpmax_joint=44850;gnomADv4_1_AN_joint=1611450;gnomADv4_1_AN_joint_XX=811050;gnomADv4_1_AN_joint_XY=800400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=103294;gnomADv4_1_nhomalt_joint_XX=51361;gnomADv4_1_nhomalt_joint_XY=51933;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29272015 chr22_29272015_C_T C T 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=5.237;CADD_Rawscore=0.478185;CSQ=T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000216085|protein_coding||||||||||rs2857461|4034|-1||HGNC|HGNC:1308|1|CCDS13850.1|ENSP00000216085|Q9Y3P4.167||UPI0000128721|||Ensembl||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||1/14|ENST00000331029.11:c.14-201C>T|||||||rs2857461||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||1/15|ENST00000332035.10:c.14-201C>T|||||||rs2857461||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||1/16|ENST00000332050.10:c.14-201C>T|||||||rs2857461||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||1/8|ENST00000333395.11:c.14-201C>T|||||||rs2857461||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||1/16|ENST00000397938.7:c.14-201C>T|||||||rs2857461||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000406335|protein_coding||||||||||rs2857461|4287|-1|cds_end_NF|HGNC|HGNC:1308|2||ENSP00000384113||B0QYJ2.85|UPI0001611071|||Ensembl||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||1/16|ENST00000406548.5:c.14-201C>T|||||||rs2857461||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000413137|nonsense_mediated_decay||||||||||rs2857461|4070|-1||HGNC|HGNC:1308|5||ENSP00000399550||F8WFA9.53|UPI000161106F|||Ensembl||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||1/17|ENST00000414183.6:c.14-201C>T|||||||rs2857461||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000414672|protein_coding||||||||||rs2857461|3806|-1|cds_end_NF|HGNC|HGNC:1308|5||ENSP00000413128||B0QYJ1.86|UPI0001611070|||Ensembl||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||1/5|ENST00000415761.5:c.14-201C>T|||||||rs2857461||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||1/6|ENST00000436425.5:c.14-201C>T|||||||rs2857461||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||1/7|ENST00000437155.6:c.14-201C>T|||||||rs2857461||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||1/4|ENST00000444626.5:c.14-201C>T|||||||rs2857461||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||1/6|ENST00000447973.5:c.14-201C>T|||||||rs2857461||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||1/6|ENST00000455726.5:c.14-201C>T|||||||rs2857461||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||||||||||rs2857461|3614|1||HGNC|HGNC:3508|1||||||||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||1/7|ENST00000483415.5:n.38-201C>T|||||||rs2857461||1||HGNC|HGNC:3508|1||||||||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||1/4|ENST00000485037.5:n.78-201C>T|||||||rs2857461||1||HGNC|HGNC:3508|5||||||||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000488106|retained_intron||||||||||rs2857461|4094|-1||HGNC|HGNC:1308|5||||||||Ensembl||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000493426|retained_intron||1/3|ENST00000493426.1:n.441-201C>T|||||||rs2857461||1||HGNC|HGNC:3508|3||||||||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RHBDD3|ENSG00000100263|Transcript|ENST00000493894|retained_intron||||||||||rs2857461|4055|-1||HGNC|HGNC:1308|2||||||||Ensembl||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||1/14|ENST00000629659.2:c.14-201C>T|||||||rs2857461||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||C|C||1||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||1/16|NM_001163285.2:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||1/15|NM_001163286.2:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||1/8|NM_001163287.2:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_001329536.1|protein_coding||||||||||rs2857461|3852|-1||EntrezGene|HGNC:1308|||NP_001316465.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||1/16|NM_005243.4:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NM_012265.3|protein_coding||||||||||rs2857461|4034|-1||EntrezGene|HGNC:1308|||NP_036397.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||1/17|NM_013986.4:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|NR_138044.2|misc_RNA||||||||||rs2857461|4034|-1||EntrezGene|HGNC:1308|||||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||1/16|XM_005261389.5:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||1/15|XM_005261390.5:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_006724224.5|protein_coding||||||||||rs2857461|4034|-1||EntrezGene|HGNC:1308|||XP_006724287.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||1/16|XM_011529995.4:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||1/16|XM_011529996.4:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||1/16|XM_011529997.3:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||1/16|XM_011529998.3:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||1/16|XM_011529999.4:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||1/16|XM_011530000.3:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||1/15|XM_011530001.3:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||1/14|XM_011530002.4:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||1/16|XM_017028644.3:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||1/16|XM_017028645.3:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||1/16|XM_017028646.3:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||1/16|XM_017028647.3:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||1/16|XM_017028648.3:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||1/15|XM_017028649.3:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||1/15|XM_017028650.3:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||1/15|XM_017028651.3:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||1/15|XM_017028652.3:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||1/15|XM_017028653.3:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||1/15|XM_017028654.2:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||1/15|XM_017028655.2:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||1/15|XM_017028656.3:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||1/15|XM_017028658.2:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||1/15|XM_017028659.2:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||1/15|XM_017028660.3:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||1/15|XM_017028662.3:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||1/14|XM_017028663.2:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||1/14|XM_024452180.2:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||1/14|XM_024452181.2:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452208.2|protein_coding||||||||||rs2857461|4034|-1||EntrezGene|HGNC:1308|||XP_024307976.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RHBDD3|25807|Transcript|XM_024452209.2|protein_coding||||||||||rs2857461|3852|-1||EntrezGene|HGNC:1308|||XP_024307977.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||1/16|XM_047441186.1:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||1/16|XM_047441187.1:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||1/15|XM_047441188.1:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||1/15|XM_047441189.1:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||1/15|XM_047441190.1:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||1/15|XM_047441191.1:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||1/15|XM_047441192.1:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||1/14|XM_047441193.1:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||1/15|XM_047441194.1:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||1/14|XM_047441195.1:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||1/14|XM_047441196.1:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||1/15|XM_047441197.1:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||1/14|XM_047441198.1:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||1/13|XM_047441199.1:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||1/13|XM_047441200.1:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||1/13|XM_047441201.1:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||1/7|XM_047441202.1:c.14-201C>T|||||||rs2857461||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||C|C||||chr22:g.29272015C>T|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29272015C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=EWSR1:2130;ClinVar_Variation_ID=1220856;SpliceAI=T|EWSR1|0.00|0.00|0.00|0.00|29|46|-47|8;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216085,ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406335,ENST00000406548,ENST00000413137,ENST00000414183,ENST00000414672,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000485037,ENST00000488106,ENST00000493426,ENST00000493894,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_001329536.1,NM_005243.4,NM_012265.3,NM_013986.4,NR_138044.2,XM_005261389.5,XM_005261390.5,XM_006724224.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_024452208.2,XM_024452209.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100263,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000100263,ENSG00000182944,ENSG00000100263,ENSG00000182944,2130,2130,2130,25807,2130,25807,2130,25807,2130,2130,25807,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,25807,25807,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,RHBDD3,EWSR1,EWSR1,RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,RHBDD3,RHBDD3,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=149338;gnomADv4_1_AC_joint_XX=76358;gnomADv4_1_AC_joint_XY=72980;gnomADv4_1_AF_grpmax_joint=0.989796;gnomADv4_1_AF_joint=0.980449;gnomADv4_1_AF_joint_XX=0.981037;gnomADv4_1_AF_joint_XY=0.979834;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152316;gnomADv4_1_AN_joint_XX=77834;gnomADv4_1_AN_joint_XY=74482;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=73213;gnomADv4_1_nhomalt_joint_XX=37456;gnomADv4_1_nhomalt_joint_XY=35757;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29273659 chr22_29273659_G_C G C 54 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=6.973;CADD_Rawscore=0.655172;CSQ=C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||3/14|ENST00000331029.11:c.103-82G>C|||||||rs4820803||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||3/15|ENST00000332035.10:c.103-82G>C|||||||rs4820803||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||3/16|ENST00000332050.10:c.103-82G>C|||||||rs4820803||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||3/8|ENST00000333395.11:c.103-82G>C|||||||rs4820803||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||3/16|ENST00000397938.7:c.103-82G>C|||||||rs4820803||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||3/16|ENST00000406548.5:c.103-82G>C|||||||rs4820803||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||3/17|ENST00000414183.6:c.103-82G>C|||||||rs4820803||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||3/5|ENST00000415761.5:c.102+1228G>C|||||||rs4820803||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||3/6|ENST00000436425.5:c.103-79G>C|||||||rs4820803||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||3/7|ENST00000437155.6:c.103-79G>C|||||||rs4820803||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||3/4|ENST00000444626.5:c.97-82G>C|||||||rs4820803||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||3/6|ENST00000447973.5:c.103-79G>C|||||||rs4820803||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||3/6|ENST00000455726.5:c.103-82G>C|||||||rs4820803||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||||||||||rs4820803|1970|1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||3/7|ENST00000483415.5:n.127-82G>C|||||||rs4820803||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||3/4|ENST00000485037.5:n.167-82G>C|||||||rs4820803||1||HGNC|HGNC:3508|5||||||||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000493426|retained_intron||3/3|ENST00000493426.1:n.530-82G>C|||||||rs4820803||1||HGNC|HGNC:3508|3||||||||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||3/14|ENST00000629659.2:c.103-79G>C|||||||rs4820803||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||G|G||1||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||3/16|NM_001163285.2:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||3/15|NM_001163286.2:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||3/8|NM_001163287.2:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||3/16|NM_005243.4:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||3/17|NM_013986.4:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||3/16|XM_005261389.5:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||3/15|XM_005261390.5:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||3/16|XM_011529995.4:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||3/16|XM_011529996.4:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||3/16|XM_011529997.3:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||3/16|XM_011529998.3:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||3/16|XM_011529999.4:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||3/16|XM_011530000.3:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||3/15|XM_011530001.3:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||3/14|XM_011530002.4:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||3/16|XM_017028644.3:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||3/16|XM_017028645.3:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||3/16|XM_017028646.3:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||3/16|XM_017028647.3:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||3/16|XM_017028648.3:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||3/15|XM_017028649.3:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||3/15|XM_017028650.3:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||3/15|XM_017028651.3:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||3/15|XM_017028652.3:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||3/15|XM_017028653.3:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||3/15|XM_017028654.2:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||3/15|XM_017028655.2:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||3/15|XM_017028656.3:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||3/15|XM_017028658.2:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||3/15|XM_017028659.2:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||3/15|XM_017028660.3:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||3/15|XM_017028662.3:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||3/14|XM_017028663.2:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||3/14|XM_024452180.2:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||3/14|XM_024452181.2:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||3/16|XM_047441186.1:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||3/16|XM_047441187.1:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||3/15|XM_047441188.1:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||3/15|XM_047441189.1:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||3/15|XM_047441190.1:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||3/15|XM_047441191.1:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||3/15|XM_047441192.1:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||3/14|XM_047441193.1:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||3/15|XM_047441194.1:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||3/14|XM_047441195.1:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||3/14|XM_047441196.1:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||3/15|XM_047441197.1:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||3/14|XM_047441198.1:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||3/13|XM_047441199.1:c.103-79G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||3/13|XM_047441200.1:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||3/13|XM_047441201.1:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||3/7|XM_047441202.1:c.103-82G>C|||||||rs4820803||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||G|G||||chr22:g.29273659G>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29273659G>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=EWSR1:2130;ClinVar_Variation_ID=1270867;SpliceAI=C|EWSR1|0.00|0.00|0.00|0.00|-20|1|-20|0;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000485037,ENST00000493426,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=272450;gnomADv4_1_AC_joint_XX=133396;gnomADv4_1_AC_joint_XY=139054;gnomADv4_1_AF_grpmax_joint=0.365589;gnomADv4_1_AF_joint=0.186664;gnomADv4_1_AF_joint_XX=0.181476;gnomADv4_1_AF_joint_XY=0.191927;gnomADv4_1_AN_grpmax_joint=78840;gnomADv4_1_AN_joint=1459576;gnomADv4_1_AN_joint_XX=735062;gnomADv4_1_AN_joint_XY=724514;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28512;gnomADv4_1_nhomalt_joint_XX=13345;gnomADv4_1_nhomalt_joint_XY=15167;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29273704 chr22_29273704_T_C T C 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.208;CADD_Rawscore=0.190229;CSQ=C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||3/14|ENST00000331029.11:c.103-37T>C|||||||rs4820804||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||3/15|ENST00000332035.10:c.103-37T>C|||||||rs4820804||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||3/16|ENST00000332050.10:c.103-37T>C|||||||rs4820804||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||3/8|ENST00000333395.11:c.103-37T>C|||||||rs4820804||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||3/16|ENST00000397938.7:c.103-37T>C|||||||rs4820804||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||3/16|ENST00000406548.5:c.103-37T>C|||||||rs4820804||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||3/17|ENST00000414183.6:c.103-37T>C|||||||rs4820804||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||3/5|ENST00000415761.5:c.102+1273T>C|||||||rs4820804||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||3/6|ENST00000436425.5:c.103-34T>C|||||||rs4820804||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||3/7|ENST00000437155.6:c.103-34T>C|||||||rs4820804||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||3/4|ENST00000444626.5:c.97-37T>C|||||||rs4820804||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||3/6|ENST00000447973.5:c.103-34T>C|||||||rs4820804||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||3/6|ENST00000455726.5:c.103-37T>C|||||||rs4820804||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||||||||||rs4820804|1925|1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||3/7|ENST00000483415.5:n.127-37T>C|||||||rs4820804||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||3/4|ENST00000485037.5:n.167-37T>C|||||||rs4820804||1||HGNC|HGNC:3508|5||||||||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000493426|retained_intron||3/3|ENST00000493426.1:n.530-37T>C|||||||rs4820804||1||HGNC|HGNC:3508|3||||||||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||3/14|ENST00000629659.2:c.103-34T>C|||||||rs4820804||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||T|T||1||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||3/16|NM_001163285.2:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||3/15|NM_001163286.2:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||3/8|NM_001163287.2:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||3/16|NM_005243.4:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||3/17|NM_013986.4:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||3/16|XM_005261389.5:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||3/15|XM_005261390.5:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||3/16|XM_011529995.4:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||3/16|XM_011529996.4:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||3/16|XM_011529997.3:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||3/16|XM_011529998.3:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||3/16|XM_011529999.4:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||3/16|XM_011530000.3:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||3/15|XM_011530001.3:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||3/14|XM_011530002.4:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||3/16|XM_017028644.3:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||3/16|XM_017028645.3:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||3/16|XM_017028646.3:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||3/16|XM_017028647.3:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||3/16|XM_017028648.3:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||3/15|XM_017028649.3:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||3/15|XM_017028650.3:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||3/15|XM_017028651.3:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||3/15|XM_017028652.3:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||3/15|XM_017028653.3:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||3/15|XM_017028654.2:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||3/15|XM_017028655.2:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||3/15|XM_017028656.3:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||3/15|XM_017028658.2:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||3/15|XM_017028659.2:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||3/15|XM_017028660.3:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||3/15|XM_017028662.3:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||3/14|XM_017028663.2:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||3/14|XM_024452180.2:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||3/14|XM_024452181.2:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||3/16|XM_047441186.1:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||3/16|XM_047441187.1:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||3/15|XM_047441188.1:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||3/15|XM_047441189.1:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||3/15|XM_047441190.1:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||3/15|XM_047441191.1:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||3/15|XM_047441192.1:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||3/14|XM_047441193.1:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||3/15|XM_047441194.1:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||3/14|XM_047441195.1:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||3/14|XM_047441196.1:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||3/15|XM_047441197.1:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||3/14|XM_047441198.1:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||3/13|XM_047441199.1:c.103-34T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||3/13|XM_047441200.1:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||3/13|XM_047441201.1:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||3/7|XM_047441202.1:c.103-37T>C|||||||rs4820804||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||T|T||||chr22:g.29273704T>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29273704T>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=EWSR1:2130;ClinVar_Variation_ID=1276860;SpliceAI=C|EWSR1|0.00|0.00|0.00|0.00|-30|34|34|45;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000485037,ENST00000493426,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=625593;gnomADv4_1_AC_joint_XX=312362;gnomADv4_1_AC_joint_XY=313231;gnomADv4_1_AF_grpmax_joint=0.499069;gnomADv4_1_AF_joint=0.391774;gnomADv4_1_AF_joint_XX=0.388193;gnomADv4_1_AF_joint_XY=0.395412;gnomADv4_1_AN_grpmax_joint=56942;gnomADv4_1_AN_joint=1596820;gnomADv4_1_AN_joint_XX=804656;gnomADv4_1_AN_joint_XY=792164;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=125698;gnomADv4_1_nhomalt_joint_XX=62128;gnomADv4_1_nhomalt_joint_XY=63570;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29273723 chr22_29273723_C_G C G 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.143;CADD_Rawscore=-0.515037;CSQ=G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||3/14|ENST00000331029.11:c.103-18C>G|||||||rs55801595||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||3/15|ENST00000332035.10:c.103-18C>G|||||||rs55801595||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||3/16|ENST00000332050.10:c.103-18C>G|||||||rs55801595||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||3/8|ENST00000333395.11:c.103-18C>G|||||||rs55801595||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||3/16|ENST00000397938.7:c.103-18C>G|||||||rs55801595||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||3/16|ENST00000406548.5:c.103-18C>G|||||||rs55801595||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||3/17|ENST00000414183.6:c.103-18C>G|||||||rs55801595||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||3/5|ENST00000415761.5:c.102+1292C>G|||||||rs55801595||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||3/6|ENST00000436425.5:c.103-15C>G|||||||rs55801595||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||3/7|ENST00000437155.6:c.103-15C>G|||||||rs55801595||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||3/4|ENST00000444626.5:c.97-18C>G|||||||rs55801595||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||3/6|ENST00000447973.5:c.103-15C>G|||||||rs55801595||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||3/6|ENST00000455726.5:c.103-18C>G|||||||rs55801595||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||||||||||rs55801595|1906|1||HGNC|HGNC:3508|1||||||||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||3/7|ENST00000483415.5:n.127-18C>G|||||||rs55801595||1||HGNC|HGNC:3508|1||||||||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||3/4|ENST00000485037.5:n.167-18C>G|||||||rs55801595||1||HGNC|HGNC:3508|5||||||||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000493426|retained_intron||3/3|ENST00000493426.1:n.530-18C>G|||||||rs55801595||1||HGNC|HGNC:3508|3||||||||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||3/14|ENST00000629659.2:c.103-15C>G|||||||rs55801595||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||C|C||1||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||3/16|NM_001163285.2:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||3/15|NM_001163286.2:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||3/8|NM_001163287.2:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||3/16|NM_005243.4:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||3/17|NM_013986.4:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||3/16|XM_005261389.5:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||3/15|XM_005261390.5:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||3/16|XM_011529995.4:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||3/16|XM_011529996.4:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||3/16|XM_011529997.3:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||3/16|XM_011529998.3:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||3/16|XM_011529999.4:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||3/16|XM_011530000.3:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||3/15|XM_011530001.3:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||3/14|XM_011530002.4:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||3/16|XM_017028644.3:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||3/16|XM_017028645.3:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||3/16|XM_017028646.3:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||3/16|XM_017028647.3:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||3/16|XM_017028648.3:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||3/15|XM_017028649.3:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||3/15|XM_017028650.3:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||3/15|XM_017028651.3:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||3/15|XM_017028652.3:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||3/15|XM_017028653.3:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||3/15|XM_017028654.2:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||3/15|XM_017028655.2:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||3/15|XM_017028656.3:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||3/15|XM_017028658.2:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||3/15|XM_017028659.2:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||3/15|XM_017028660.3:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||3/15|XM_017028662.3:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||3/14|XM_017028663.2:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||3/14|XM_024452180.2:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||3/14|XM_024452181.2:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||3/16|XM_047441186.1:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||3/16|XM_047441187.1:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||3/15|XM_047441188.1:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||3/15|XM_047441189.1:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||3/15|XM_047441190.1:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||3/15|XM_047441191.1:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||3/15|XM_047441192.1:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||3/14|XM_047441193.1:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||3/15|XM_047441194.1:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||3/14|XM_047441195.1:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||3/14|XM_047441196.1:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||3/15|XM_047441197.1:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||3/14|XM_047441198.1:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|splice_polypyrimidine_tract_variant&intron_variant|LOW|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||3/13|XM_047441199.1:c.103-15C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||3/13|XM_047441200.1:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||3/13|XM_047441201.1:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||3/7|XM_047441202.1:c.103-18C>G|||||||rs55801595||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||C|C||||chr22:g.29273723C>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29273723C>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=EWSR1:2130;ClinVar_Variation_ID=1249698;SpliceAI=G|EWSR1|0.01|0.00|0.00|0.00|15|13|15|-19;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000485037,ENST00000493426,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=113478;gnomADv4_1_AC_joint_XX=58325;gnomADv4_1_AC_joint_XY=55153;gnomADv4_1_AF_grpmax_joint=0.0826099;gnomADv4_1_AF_joint=0.0710391;gnomADv4_1_AF_joint_XX=0.0724952;gnomADv4_1_AF_joint_XY=0.0695616;gnomADv4_1_AN_grpmax_joint=1174266;gnomADv4_1_AN_joint=1597402;gnomADv4_1_AN_joint_XX=804536;gnomADv4_1_AN_joint_XY=792866;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4622;gnomADv4_1_nhomalt_joint_XX=2370;gnomADv4_1_nhomalt_joint_XY=2252;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29274950 chr22_29274950_T_C T C 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.374;CADD_Rawscore=0.209678;CSQ=C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||4/14|ENST00000331029.11:c.226+1086T>C|||||||rs3788410||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||4/15|ENST00000332035.10:c.226+1086T>C|||||||rs3788410||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||4/16|ENST00000332050.10:c.226+1086T>C|||||||rs3788410||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||4/8|ENST00000333395.11:c.226+1086T>C|||||||rs3788410||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||4/16|ENST00000397938.7:c.226+1086T>C|||||||rs3788410||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||4/16|ENST00000406548.5:c.226+1086T>C|||||||rs3788410||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||5/17|ENST00000414183.6:c.244+668T>C|||||||rs3788410||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||3/5|ENST00000415761.5:c.102+2519T>C|||||||rs3788410||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||5/6|ENST00000436425.5:c.247+668T>C|||||||rs3788410||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||4/7|ENST00000437155.6:c.229+1086T>C|||||||rs3788410||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||4/4|ENST00000444626.5:c.220+1086T>C|||||||rs3788410||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||5/6|ENST00000447973.5:c.244+668T>C|||||||rs3788410||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||4/6|ENST00000455726.5:c.226+1086T>C|||||||rs3788410||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||||||||||rs3788410|679|1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||4/7|ENST00000483415.5:n.250+1086T>C|||||||rs3788410||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||||||||||rs3788410|497|1||HGNC|HGNC:3508|5||||||||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000493426|retained_intron||||||||||rs3788410|1158|1||HGNC|HGNC:3508|3||||||||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||4/14|ENST00000629659.2:c.229+1086T>C|||||||rs3788410||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||T|T||1||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||4/16|NM_001163285.2:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||4/15|NM_001163286.2:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||4/8|NM_001163287.2:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||4/16|NM_005243.4:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||5/17|NM_013986.4:c.244+668T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||4/16|XM_005261389.5:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||4/15|XM_005261390.5:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||4/16|XM_011529995.4:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||4/16|XM_011529996.4:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||4/16|XM_011529997.3:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||4/16|XM_011529998.3:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||4/16|XM_011529999.4:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||4/16|XM_011530000.3:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||4/15|XM_011530001.3:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||4/14|XM_011530002.4:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||4/16|XM_017028644.3:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||4/16|XM_017028645.3:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||4/16|XM_017028646.3:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||4/16|XM_017028647.3:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||4/16|XM_017028648.3:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||4/15|XM_017028649.3:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||4/15|XM_017028650.3:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||4/15|XM_017028651.3:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||4/15|XM_017028652.3:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||4/15|XM_017028653.3:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||4/15|XM_017028654.2:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||4/15|XM_017028655.2:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||4/15|XM_017028656.3:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||4/15|XM_017028658.2:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||4/15|XM_017028659.2:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||4/15|XM_017028660.3:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||4/15|XM_017028662.3:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||4/14|XM_017028663.2:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||4/14|XM_024452180.2:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||4/14|XM_024452181.2:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||4/16|XM_047441186.1:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||4/16|XM_047441187.1:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||4/15|XM_047441188.1:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||4/15|XM_047441189.1:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||4/15|XM_047441190.1:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||4/15|XM_047441191.1:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||4/15|XM_047441192.1:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||4/14|XM_047441193.1:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||4/15|XM_047441194.1:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||4/14|XM_047441195.1:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||4/14|XM_047441196.1:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||4/15|XM_047441197.1:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||4/14|XM_047441198.1:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||4/13|XM_047441199.1:c.229+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||4/13|XM_047441200.1:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||4/13|XM_047441201.1:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||4/7|XM_047441202.1:c.226+1086T>C|||||||rs3788410||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||T|T||||chr22:g.29274950T>C|||||||||||||;SpliceAI=C|EWSR1|0.00|0.00|0.00|0.00|-35|18|9|-16;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000485037,ENST00000493426,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=51751;gnomADv4_1_AC_joint_XX=26090;gnomADv4_1_AC_joint_XY=25661;gnomADv4_1_AF_grpmax_joint=0.477803;gnomADv4_1_AF_joint=0.340181;gnomADv4_1_AF_joint_XX=0.335468;gnomADv4_1_AF_joint_XY=0.34511;gnomADv4_1_AN_grpmax_joint=15272;gnomADv4_1_AN_joint=152128;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=9834;gnomADv4_1_nhomalt_joint_XX=4882;gnomADv4_1_nhomalt_joint_XY=4952;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29275068 chr22_29275068_CT_C CT C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.357;CADDIndel_Rawscore=-0.277578;CSQ=-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||4/14|ENST00000331029.11:c.226+1205del|||||||rs131178||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||4/15|ENST00000332035.10:c.226+1205del|||||||rs131178||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||4/16|ENST00000332050.10:c.226+1205del|||||||rs131178||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||4/8|ENST00000333395.11:c.226+1205del|||||||rs131178||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||4/16|ENST00000397938.7:c.226+1205del|||||||rs131178||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||4/16|ENST00000406548.5:c.226+1205del|||||||rs131178||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||5/17|ENST00000414183.6:c.244+787del|||||||rs131178||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||3/5|ENST00000415761.5:c.102+2638del|||||||rs131178||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||5/6|ENST00000436425.5:c.247+787del|||||||rs131178||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||4/7|ENST00000437155.6:c.229+1205del|||||||rs131178||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||4/4|ENST00000444626.5:c.220+1205del|||||||rs131178||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||5/6|ENST00000447973.5:c.244+787del|||||||rs131178||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||4/6|ENST00000455726.5:c.226+1205del|||||||rs131178||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||||||||||rs131178|560|1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||4/7|ENST00000483415.5:n.250+1205del|||||||rs131178||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||||||||||rs131178|616|1||HGNC|HGNC:3508|5||||||||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000493426|retained_intron||||||||||rs131178|1277|1||HGNC|HGNC:3508|3||||||||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||4/14|ENST00000629659.2:c.229+1205del|||||||rs131178||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||T|T||1||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||4/16|NM_001163285.2:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||4/15|NM_001163286.2:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||4/8|NM_001163287.2:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||4/16|NM_005243.4:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||5/17|NM_013986.4:c.244+787del|||||||rs131178||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||4/16|XM_005261389.5:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||4/15|XM_005261390.5:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||4/16|XM_011529995.4:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||4/16|XM_011529996.4:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||4/16|XM_011529997.3:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||4/16|XM_011529998.3:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||4/16|XM_011529999.4:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||4/16|XM_011530000.3:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||4/15|XM_011530001.3:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||4/14|XM_011530002.4:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||4/16|XM_017028644.3:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||4/16|XM_017028645.3:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||4/16|XM_017028646.3:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||4/16|XM_017028647.3:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||4/16|XM_017028648.3:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||4/15|XM_017028649.3:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||4/15|XM_017028650.3:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||4/15|XM_017028651.3:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||4/15|XM_017028652.3:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||4/15|XM_017028653.3:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||4/15|XM_017028654.2:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||4/15|XM_017028655.2:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||4/15|XM_017028656.3:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||4/15|XM_017028658.2:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||4/15|XM_017028659.2:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||4/15|XM_017028660.3:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||4/15|XM_017028662.3:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||4/14|XM_017028663.2:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||4/14|XM_024452180.2:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||4/14|XM_024452181.2:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||4/16|XM_047441186.1:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||4/16|XM_047441187.1:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||4/15|XM_047441188.1:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||4/15|XM_047441189.1:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||4/15|XM_047441190.1:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||4/15|XM_047441191.1:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||4/15|XM_047441192.1:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||4/14|XM_047441193.1:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||4/15|XM_047441194.1:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||4/14|XM_047441195.1:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||4/14|XM_047441196.1:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||4/15|XM_047441197.1:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||4/14|XM_047441198.1:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||4/13|XM_047441199.1:c.229+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||4/13|XM_047441200.1:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||4/13|XM_047441201.1:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||4/7|XM_047441202.1:c.226+1205del|||||||rs131178||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||T|T||||chr22:g.29275069del|||||||||||||;SpliceAI=C|EWSR1|0.00|0.00|0.00|0.00|-11|9|-40|-45;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000485037,ENST00000493426,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152356;gnomADv4_1_AC_joint_XX=77858;gnomADv4_1_AC_joint_XY=74498;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68042;gnomADv4_1_AN_joint=152356;gnomADv4_1_AN_joint_XX=77858;gnomADv4_1_AN_joint_XY=74498;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76178;gnomADv4_1_nhomalt_joint_XX=38929;gnomADv4_1_nhomalt_joint_XY=37249;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29275935 chr22_29275935_G_GT G GT 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.568;CADDIndel_Rawscore=-0.161258;CSQ=T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||4/14|ENST00000331029.11:c.226+2081dup|||||||rs71322634||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl|||||1|10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||4/15|ENST00000332035.10:c.226+2081dup|||||||rs71322634||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl|||||1|10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||4/16|ENST00000332050.10:c.226+2081dup|||||||rs71322634||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl|||||1|10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||4/8|ENST00000333395.11:c.226+2081dup|||||||rs71322634||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl|||||1|10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||4/16|ENST00000397938.7:c.226+2081dup|||||||rs71322634||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl|||||1|10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||4/16|ENST00000406548.5:c.226+2081dup|||||||rs71322634||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl|||||1|10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||5/17|ENST00000414183.6:c.244+1663dup|||||||rs71322634||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl|||||1|10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||3/5|ENST00000415761.5:c.103-2186dup|||||||rs71322634||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl|||||1|10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||5/6|ENST00000436425.5:c.247+1663dup|||||||rs71322634||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl|||||1|10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||4/7|ENST00000437155.6:c.229+2081dup|||||||rs71322634||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl|||||1|10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||4/4|ENST00000444626.5:c.220+2081dup|||||||rs71322634||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl|||||1|10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||5/6|ENST00000447973.5:c.244+1663dup|||||||rs71322634||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl|||||1|10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||4/6|ENST00000455726.5:c.226+2081dup|||||||rs71322634||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl|||||1|10|chr22:g.29275945dup|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron|1/12||ENST00000479135.5:n.317dup||307-308|||||rs71322634||1||HGNC|HGNC:3508|1||||||||Ensembl|||||1|10|chr22:g.29275945dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||4/7|ENST00000483415.5:n.250+2081dup|||||||rs71322634||1||HGNC|HGNC:3508|1||||||||Ensembl|||||1|10|chr22:g.29275945dup|||||||||||||,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||||||||||rs71322634|1482|1||HGNC|HGNC:3508|5||||||||Ensembl|||||1||chr22:g.29275945dup|||||||||||||,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000493426|retained_intron||||||||||rs71322634|2143|1||HGNC|HGNC:3508|3||||||||Ensembl|||||1||chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||4/14|ENST00000629659.2:c.229+2081dup|||||||rs71322634||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl|||||1|10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||4/16|NM_001163285.2:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||4/15|NM_001163286.2:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||4/8|NM_001163287.2:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||4/16|NM_005243.4:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||5/17|NM_013986.4:c.244+1663dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||4/16|XM_005261389.5:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||4/15|XM_005261390.5:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||4/16|XM_011529995.4:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||4/16|XM_011529996.4:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||4/16|XM_011529997.3:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||4/16|XM_011529998.3:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||4/16|XM_011529999.4:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||4/16|XM_011530000.3:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||4/15|XM_011530001.3:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||4/14|XM_011530002.4:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||4/16|XM_017028644.3:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||4/16|XM_017028645.3:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||4/16|XM_017028646.3:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||4/16|XM_017028647.3:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||4/16|XM_017028648.3:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||4/15|XM_017028649.3:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||4/15|XM_017028650.3:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||4/15|XM_017028651.3:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||4/15|XM_017028652.3:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||4/15|XM_017028653.3:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||4/15|XM_017028654.2:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||4/15|XM_017028655.2:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||4/15|XM_017028656.3:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||4/15|XM_017028658.2:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||4/15|XM_017028659.2:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||4/15|XM_017028660.3:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||4/15|XM_017028662.3:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||4/14|XM_017028663.2:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||4/14|XM_024452180.2:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||4/14|XM_024452181.2:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||4/16|XM_047441186.1:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||4/16|XM_047441187.1:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||4/15|XM_047441188.1:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||4/15|XM_047441189.1:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||4/15|XM_047441190.1:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||4/15|XM_047441191.1:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||4/15|XM_047441192.1:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||4/14|XM_047441193.1:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||4/15|XM_047441194.1:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||4/14|XM_047441195.1:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||4/14|XM_047441196.1:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||4/15|XM_047441197.1:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||4/14|XM_047441198.1:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||4/13|XM_047441199.1:c.229+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||4/13|XM_047441200.1:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||4/13|XM_047441201.1:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||4/7|XM_047441202.1:c.226+2081dup|||||||rs71322634||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||||||10|chr22:g.29275945dup|||||||||||||;SpliceAI=GT|EWSR1|0.00|0.00|0.00|0.00|-50|-48|-48|-24;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000485037,ENST00000493426,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87957;gnomADv4_1_AC_joint_XX=45750;gnomADv4_1_AC_joint_XY=42207;gnomADv4_1_AF_grpmax_joint=0.504242;gnomADv4_1_AF_joint=0.415959;gnomADv4_1_AF_joint_XX=0.414793;gnomADv4_1_AF_joint_XY=0.41723;gnomADv4_1_AN_grpmax_joint=16736;gnomADv4_1_AN_joint=211456;gnomADv4_1_AN_joint_XX=110296;gnomADv4_1_AN_joint_XY=101160;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=15046;gnomADv4_1_nhomalt_joint_XX=7712;gnomADv4_1_nhomalt_joint_XY=7334;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29276304 chr22_29276304_A_G A G 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.362;CADD_Rawscore=-0.274248;CSQ=G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||4/14|ENST00000331029.11:c.227-1726A>G|||||||rs9613855||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||4/15|ENST00000332035.10:c.227-1726A>G|||||||rs9613855||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||4/16|ENST00000332050.10:c.227-1726A>G|||||||rs9613855||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||4/8|ENST00000333395.11:c.227-1726A>G|||||||rs9613855||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||4/16|ENST00000397938.7:c.227-1726A>G|||||||rs9613855||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||4/16|ENST00000406548.5:c.227-1726A>G|||||||rs9613855||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||5/17|ENST00000414183.6:c.245-1726A>G|||||||rs9613855||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||3/5|ENST00000415761.5:c.103-1827A>G|||||||rs9613855||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||5/6|ENST00000436425.5:c.248-1726A>G|||||||rs9613855||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||4/7|ENST00000437155.6:c.230-1726A>G|||||||rs9613855||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||4/4|ENST00000444626.5:c.221-1726A>G|||||||rs9613855||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||5/6|ENST00000447973.5:c.245-1726A>G|||||||rs9613855||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||4/6|ENST00000455726.5:c.227-1726A>G|||||||rs9613855||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron|1/12||ENST00000479135.5:n.676A>G||676|||||rs9613855||1||HGNC|HGNC:3508|1||||||||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||4/7|ENST00000483415.5:n.251-1726A>G|||||||rs9613855||1||HGNC|HGNC:3508|1||||||||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||||||||||rs9613855|1851|1||HGNC|HGNC:3508|5||||||||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000493426|retained_intron||||||||||rs9613855|2512|1||HGNC|HGNC:3508|3||||||||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||4/14|ENST00000629659.2:c.230-1726A>G|||||||rs9613855||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||A|A||1||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||4/16|NM_001163285.2:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||4/15|NM_001163286.2:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||4/8|NM_001163287.2:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||4/16|NM_005243.4:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||5/17|NM_013986.4:c.245-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||4/16|XM_005261389.5:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||4/15|XM_005261390.5:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||4/16|XM_011529995.4:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||4/16|XM_011529996.4:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||4/16|XM_011529997.3:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||4/16|XM_011529998.3:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||4/16|XM_011529999.4:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||4/16|XM_011530000.3:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||4/15|XM_011530001.3:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||4/14|XM_011530002.4:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||4/16|XM_017028644.3:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||4/16|XM_017028645.3:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||4/16|XM_017028646.3:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||4/16|XM_017028647.3:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||4/16|XM_017028648.3:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||4/15|XM_017028649.3:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||4/15|XM_017028650.3:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||4/15|XM_017028651.3:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||4/15|XM_017028652.3:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||4/15|XM_017028653.3:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||4/15|XM_017028654.2:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||4/15|XM_017028655.2:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||4/15|XM_017028656.3:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||4/15|XM_017028658.2:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||4/15|XM_017028659.2:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||4/15|XM_017028660.3:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||4/15|XM_017028662.3:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||4/14|XM_017028663.2:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||4/14|XM_024452180.2:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||4/14|XM_024452181.2:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||4/16|XM_047441186.1:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||4/16|XM_047441187.1:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||4/15|XM_047441188.1:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||4/15|XM_047441189.1:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||4/15|XM_047441190.1:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||4/15|XM_047441191.1:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||4/15|XM_047441192.1:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||4/14|XM_047441193.1:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||4/15|XM_047441194.1:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||4/14|XM_047441195.1:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||4/14|XM_047441196.1:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||4/15|XM_047441197.1:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||4/14|XM_047441198.1:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||4/13|XM_047441199.1:c.230-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||4/13|XM_047441200.1:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||4/13|XM_047441201.1:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||4/7|XM_047441202.1:c.227-1726A>G|||||||rs9613855||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||A|A||||chr22:g.29276304A>G|||||||||||||;SpliceAI=G|EWSR1|0.00|0.00|0.00|0.00|1|-34|-8|-34;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000485037,ENST00000493426,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15338;gnomADv4_1_AC_joint_XX=7728;gnomADv4_1_AC_joint_XY=7610;gnomADv4_1_AF_grpmax_joint=0.102252;gnomADv4_1_AF_joint=0.0667793;gnomADv4_1_AF_joint_XX=0.0646089;gnomADv4_1_AF_joint_XY=0.0691378;gnomADv4_1_AN_grpmax_joint=5506;gnomADv4_1_AN_joint=229682;gnomADv4_1_AN_joint_XX=119612;gnomADv4_1_AN_joint_XY=110070;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=755;gnomADv4_1_nhomalt_joint_XX=358;gnomADv4_1_nhomalt_joint_XY=397;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29276412 chr22_29276412_CTG_C CTG C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=2.786;CADDIndel_Rawscore=0.253505;CSQ=-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||4/14|ENST00000331029.11:c.227-1614_227-1613del|||||||rs147200309||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||TG|TG||1|3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||4/15|ENST00000332035.10:c.227-1614_227-1613del|||||||rs147200309||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||TG|TG||1|3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||4/16|ENST00000332050.10:c.227-1614_227-1613del|||||||rs147200309||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||TG|TG||1|3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||4/8|ENST00000333395.11:c.227-1614_227-1613del|||||||rs147200309||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||TG|TG||1|3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||4/16|ENST00000397938.7:c.227-1614_227-1613del|||||||rs147200309||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||TG|TG||1|3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||4/16|ENST00000406548.5:c.227-1614_227-1613del|||||||rs147200309||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||TG|TG||1|3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||5/17|ENST00000414183.6:c.245-1614_245-1613del|||||||rs147200309||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||TG|TG||1|3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||3/5|ENST00000415761.5:c.103-1715_103-1714del|||||||rs147200309||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||TG|TG||1|3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||5/6|ENST00000436425.5:c.248-1614_248-1613del|||||||rs147200309||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||TG|TG||1|3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||4/7|ENST00000437155.6:c.230-1614_230-1613del|||||||rs147200309||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||TG|TG||1|3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||4/4|ENST00000444626.5:c.221-1614_221-1613del|||||||rs147200309||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||TG|TG||1|3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||5/6|ENST00000447973.5:c.245-1614_245-1613del|||||||rs147200309||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||TG|TG||1|3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||4/6|ENST00000455726.5:c.227-1614_227-1613del|||||||rs147200309||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||TG|TG||1|3|chr22:g.29276416_29276417del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron|1/12||ENST00000479135.5:n.788_789del||785-786|||||rs147200309||1||HGNC|HGNC:3508|1||||||||Ensembl||TG|TG||1|3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||4/7|ENST00000483415.5:n.251-1614_251-1613del|||||||rs147200309||1||HGNC|HGNC:3508|1||||||||Ensembl||TG|TG||1|3|chr22:g.29276416_29276417del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||||||||||rs147200309|1960|1||HGNC|HGNC:3508|5||||||||Ensembl||TG|TG||1||chr22:g.29276416_29276417del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000493426|retained_intron||||||||||rs147200309|2621|1||HGNC|HGNC:3508|3||||||||Ensembl||TG|TG||1||chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||4/14|ENST00000629659.2:c.230-1614_230-1613del|||||||rs147200309||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||TG|TG||1|3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||4/16|NM_001163285.2:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||4/15|NM_001163286.2:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||4/8|NM_001163287.2:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||4/16|NM_005243.4:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||5/17|NM_013986.4:c.245-1614_245-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||4/16|XM_005261389.5:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||4/15|XM_005261390.5:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||4/16|XM_011529995.4:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||4/16|XM_011529996.4:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||4/16|XM_011529997.3:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||4/16|XM_011529998.3:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||4/16|XM_011529999.4:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||4/16|XM_011530000.3:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||4/15|XM_011530001.3:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||4/14|XM_011530002.4:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||4/16|XM_017028644.3:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||4/16|XM_017028645.3:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||4/16|XM_017028646.3:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||4/16|XM_017028647.3:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||4/16|XM_017028648.3:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||4/15|XM_017028649.3:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||4/15|XM_017028650.3:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||4/15|XM_017028651.3:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||4/15|XM_017028652.3:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||4/15|XM_017028653.3:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||4/15|XM_017028654.2:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||4/15|XM_017028655.2:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||4/15|XM_017028656.3:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||4/15|XM_017028658.2:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||4/15|XM_017028659.2:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||4/15|XM_017028660.3:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||4/15|XM_017028662.3:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||4/14|XM_017028663.2:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||4/14|XM_024452180.2:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||4/14|XM_024452181.2:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||4/16|XM_047441186.1:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||4/16|XM_047441187.1:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||4/15|XM_047441188.1:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||4/15|XM_047441189.1:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||4/15|XM_047441190.1:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||4/15|XM_047441191.1:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||4/15|XM_047441192.1:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||4/14|XM_047441193.1:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||4/15|XM_047441194.1:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||4/14|XM_047441195.1:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||4/14|XM_047441196.1:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||4/15|XM_047441197.1:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||4/14|XM_047441198.1:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||4/13|XM_047441199.1:c.230-1614_230-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||4/13|XM_047441200.1:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||4/13|XM_047441201.1:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||4/7|XM_047441202.1:c.227-1614_227-1613del|||||||rs147200309||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||TG|TG|||3|chr22:g.29276416_29276417del|||||||||||||;SpliceAI=C|EWSR1|0.00|0.00|0.00|0.00|16|37|-14|36;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000485037,ENST00000493426,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14445;gnomADv4_1_AC_joint_XX=7589;gnomADv4_1_AC_joint_XY=6856;gnomADv4_1_AF_grpmax_joint=0.0912899;gnomADv4_1_AF_joint=0.0647909;gnomADv4_1_AF_joint_XX=0.0654811;gnomADv4_1_AF_joint_XY=0.0640436;gnomADv4_1_AN_grpmax_joint=111710;gnomADv4_1_AN_joint=222948;gnomADv4_1_AN_joint_XX=115896;gnomADv4_1_AN_joint_XY=107052;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=609;gnomADv4_1_nhomalt_joint_XX=318;gnomADv4_1_nhomalt_joint_XY=291;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29276991 chr22_29276991_GGTT_G GGTT G 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=1.146;CADDIndel_Rawscore=0.017702;CSQ=-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||4/14|ENST00000331029.11:c.227-1036_227-1034del|||||||rs3066725||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||GTT|GTT||1|2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||4/15|ENST00000332035.10:c.227-1036_227-1034del|||||||rs3066725||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||GTT|GTT||1|2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||4/16|ENST00000332050.10:c.227-1036_227-1034del|||||||rs3066725||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||GTT|GTT||1|2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||4/8|ENST00000333395.11:c.227-1036_227-1034del|||||||rs3066725||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||GTT|GTT||1|2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||4/16|ENST00000397938.7:c.227-1036_227-1034del|||||||rs3066725||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||GTT|GTT||1|2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||4/16|ENST00000406548.5:c.227-1036_227-1034del|||||||rs3066725||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||GTT|GTT||1|2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||5/17|ENST00000414183.6:c.245-1036_245-1034del|||||||rs3066725||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||GTT|GTT||1|2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||3/5|ENST00000415761.5:c.103-1137_103-1135del|||||||rs3066725||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||GTT|GTT||1|2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||5/6|ENST00000436425.5:c.248-1036_248-1034del|||||||rs3066725||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||GTT|GTT||1|2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||4/7|ENST00000437155.6:c.230-1036_230-1034del|||||||rs3066725||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||GTT|GTT||1|2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||4/4|ENST00000444626.5:c.221-1036_221-1034del|||||||rs3066725||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||GTT|GTT||1|2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||5/6|ENST00000447973.5:c.245-1036_245-1034del|||||||rs3066725||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||GTT|GTT||1|2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||4/6|ENST00000455726.5:c.227-1036_227-1034del|||||||rs3066725||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||GTT|GTT||1|2|chr22:g.29276994_29276996del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron|1/12||ENST00000479135.5:n.1366_1368del||1364-1366|||||rs3066725||1||HGNC|HGNC:3508|1||||||||Ensembl||GTT|GTT||1|2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||4/7|ENST00000483415.5:n.251-1036_251-1034del|||||||rs3066725||1||HGNC|HGNC:3508|1||||||||Ensembl||GTT|GTT||1|2|chr22:g.29276994_29276996del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||||||||||rs3066725|2539|1||HGNC|HGNC:3508|5||||||||Ensembl||GTT|GTT||1||chr22:g.29276994_29276996del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000493426|retained_intron||||||||||rs3066725|3200|1||HGNC|HGNC:3508|3||||||||Ensembl||GTT|GTT||1||chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||4/14|ENST00000629659.2:c.230-1036_230-1034del|||||||rs3066725||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||GTT|GTT||1|2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||4/16|NM_001163285.2:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||4/15|NM_001163286.2:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||4/8|NM_001163287.2:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||4/16|NM_005243.4:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||5/17|NM_013986.4:c.245-1036_245-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||4/16|XM_005261389.5:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||4/15|XM_005261390.5:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||4/16|XM_011529995.4:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||4/16|XM_011529996.4:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||4/16|XM_011529997.3:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||4/16|XM_011529998.3:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||4/16|XM_011529999.4:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||4/16|XM_011530000.3:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||4/15|XM_011530001.3:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||4/14|XM_011530002.4:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||4/16|XM_017028644.3:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||4/16|XM_017028645.3:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||4/16|XM_017028646.3:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||4/16|XM_017028647.3:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||4/16|XM_017028648.3:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||4/15|XM_017028649.3:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||4/15|XM_017028650.3:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||4/15|XM_017028651.3:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||4/15|XM_017028652.3:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||4/15|XM_017028653.3:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||4/15|XM_017028654.2:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||4/15|XM_017028655.2:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||4/15|XM_017028656.3:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||4/15|XM_017028658.2:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||4/15|XM_017028659.2:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||4/15|XM_017028660.3:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||4/15|XM_017028662.3:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||4/14|XM_017028663.2:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||4/14|XM_024452180.2:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||4/14|XM_024452181.2:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||4/16|XM_047441186.1:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||4/16|XM_047441187.1:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||4/15|XM_047441188.1:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||4/15|XM_047441189.1:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||4/15|XM_047441190.1:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||4/15|XM_047441191.1:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||4/15|XM_047441192.1:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||4/14|XM_047441193.1:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||4/15|XM_047441194.1:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||4/14|XM_047441195.1:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||4/14|XM_047441196.1:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||4/15|XM_047441197.1:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||4/14|XM_047441198.1:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||4/13|XM_047441199.1:c.230-1036_230-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||4/13|XM_047441200.1:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||4/13|XM_047441201.1:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||4/7|XM_047441202.1:c.227-1036_227-1034del|||||||rs3066725||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||GTT|GTT|||2|chr22:g.29276994_29276996del|||||||||||||;SpliceAI=G|EWSR1|0.00|0.00|0.00|0.00|-24|20|24|3;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000485037,ENST00000493426,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25270;gnomADv4_1_AC_joint_XX=13235;gnomADv4_1_AC_joint_XY=12035;gnomADv4_1_AF_grpmax_joint=0.31533;gnomADv4_1_AF_joint=0.109446;gnomADv4_1_AF_joint_XX=0.110048;gnomADv4_1_AF_joint_XY=0.108792;gnomADv4_1_AN_grpmax_joint=16256;gnomADv4_1_AN_joint=230890;gnomADv4_1_AN_joint_XX=120266;gnomADv4_1_AN_joint_XY=110624;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1762;gnomADv4_1_nhomalt_joint_XX=921;gnomADv4_1_nhomalt_joint_XY=841;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29278504 chr22_29278504_TG_T TG T 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.482;CADDIndel_Rawscore=-0.202572;CSQ=-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.413+291del|||||||rs56051811||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||G|G||1|2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+291del|||||||rs56051811||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||G|G||1|2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.413+291del|||||||rs56051811||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||G|G||1|2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.413+291del|||||||rs56051811||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||G|G||1|2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.413+291del|||||||rs56051811||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||G|G||1|2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.413+291del|||||||rs56051811||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||G|G||1|2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.431+291del|||||||rs56051811||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||G|G||1|2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.188+291del|||||||rs56051811||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||G|G||1|2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.434+291del|||||||rs56051811||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||G|G||1|2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.416+291del|||||||rs56051811||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||G|G||1|2|chr22:g.29278507del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs56051811|464|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||G|G||1||chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.431+291del|||||||rs56051811||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||G|G||1|2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+291del|||||||rs56051811||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||G|G||1|2|chr22:g.29278507del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2588+291del|||||||rs56051811||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1|2|chr22:g.29278507del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.437+291del|||||||rs56051811||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1|2|chr22:g.29278507del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||||||||||rs56051811|4052|1||HGNC|HGNC:3508|5||||||||Ensembl||G|G||1||chr22:g.29278507del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000493426|retained_intron||||||||||rs56051811|4713|1||HGNC|HGNC:3508|3||||||||Ensembl||G|G||1||chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.416+291del|||||||rs56051811||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||G|G||1|2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.431+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.416+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.413+291del|||||||rs56051811||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||G|G|||2|chr22:g.29278507del|||||||||||||;SpliceAI=T|EWSR1|0.00|0.00|0.00|0.00|36|-11|-30|-31;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000485037,ENST00000493426,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151491;gnomADv4_1_AC_joint_XX=77458;gnomADv4_1_AC_joint_XY=74033;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999479;gnomADv4_1_AF_joint_XX=0.999535;gnomADv4_1_AF_joint_XY=0.99942;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151570;gnomADv4_1_AN_joint_XX=77494;gnomADv4_1_AN_joint_XY=74076;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75706;gnomADv4_1_nhomalt_joint_XX=38711;gnomADv4_1_nhomalt_joint_XY=36995;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29278539 chr22_29278539_T_A T A 48 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.749;CADD_Rawscore=-0.09189;CSQ=A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.413+323T>A|||||||rs5752897||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+323T>A|||||||rs5752897||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.413+323T>A|||||||rs5752897||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.413+323T>A|||||||rs5752897||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.413+323T>A|||||||rs5752897||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.413+323T>A|||||||rs5752897||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.431+323T>A|||||||rs5752897||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.188+323T>A|||||||rs5752897||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.434+323T>A|||||||rs5752897||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.416+323T>A|||||||rs5752897||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs5752897|498|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.431+323T>A|||||||rs5752897||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+323T>A|||||||rs5752897||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2588+323T>A|||||||rs5752897||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.437+323T>A|||||||rs5752897||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||||||||||rs5752897|4086|1||HGNC|HGNC:3508|5||||||||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000493426|retained_intron||||||||||rs5752897|4747|1||HGNC|HGNC:3508|3||||||||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.416+323T>A|||||||rs5752897||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||T|T||1||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.431+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.416+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.413+323T>A|||||||rs5752897||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||T|T||||chr22:g.29278539T>A|||||||||||||;SpliceAI=A|EWSR1|0.00|0.00|0.00|0.00|16|1|-8|-33;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000485037,ENST00000493426,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151739;gnomADv4_1_AC_joint_XX=77573;gnomADv4_1_AC_joint_XY=74166;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999651;gnomADv4_1_AF_joint_XX=0.999704;gnomADv4_1_AF_joint_XY=0.999596;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151792;gnomADv4_1_AN_joint_XX=77596;gnomADv4_1_AN_joint_XY=74196;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75843;gnomADv4_1_nhomalt_joint_XX=38775;gnomADv4_1_nhomalt_joint_XY=37068;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29278545 chr22_29278545_G_C G C 46 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.147;CADD_Rawscore=-0.508048;CSQ=C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.413+329G>C|||||||rs5763124||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+329G>C|||||||rs5763124||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.413+329G>C|||||||rs5763124||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.413+329G>C|||||||rs5763124||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.413+329G>C|||||||rs5763124||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.413+329G>C|||||||rs5763124||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.431+329G>C|||||||rs5763124||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.188+329G>C|||||||rs5763124||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.434+329G>C|||||||rs5763124||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.416+329G>C|||||||rs5763124||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs5763124|504|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.431+329G>C|||||||rs5763124||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+329G>C|||||||rs5763124||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2588+329G>C|||||||rs5763124||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.437+329G>C|||||||rs5763124||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||||||||||rs5763124|4092|1||HGNC|HGNC:3508|5||||||||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000493426|retained_intron||||||||||rs5763124|4753|1||HGNC|HGNC:3508|3||||||||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.416+329G>C|||||||rs5763124||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||G|G||1||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.431+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.416+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.413+329G>C|||||||rs5763124||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||G|G||||chr22:g.29278545G>C|||||||||||||;SpliceAI=C|EWSR1|0.00|0.00|0.00|0.00|10|43|21|-39;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000485037,ENST00000493426,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151727;gnomADv4_1_AC_joint_XX=77579;gnomADv4_1_AC_joint_XY=74148;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999638;gnomADv4_1_AF_joint_XX=0.999729;gnomADv4_1_AF_joint_XY=0.999542;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151782;gnomADv4_1_AN_joint_XX=77600;gnomADv4_1_AN_joint_XY=74182;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75836;gnomADv4_1_nhomalt_joint_XX=38779;gnomADv4_1_nhomalt_joint_XY=37057;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29278546 chr22_29278546_G_A G A 48 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.049;CADD_Rawscore=-0.808312;CSQ=A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.413+330G>A|||||||rs5763125||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+330G>A|||||||rs5763125||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.413+330G>A|||||||rs5763125||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.413+330G>A|||||||rs5763125||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.413+330G>A|||||||rs5763125||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.413+330G>A|||||||rs5763125||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.431+330G>A|||||||rs5763125||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.188+330G>A|||||||rs5763125||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.434+330G>A|||||||rs5763125||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.416+330G>A|||||||rs5763125||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs5763125|505|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.431+330G>A|||||||rs5763125||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+330G>A|||||||rs5763125||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2588+330G>A|||||||rs5763125||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.437+330G>A|||||||rs5763125||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||||||||||rs5763125|4093|1||HGNC|HGNC:3508|5||||||||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000493426|retained_intron||||||||||rs5763125|4754|1||HGNC|HGNC:3508|3||||||||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.416+330G>A|||||||rs5763125||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||G|G||1||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.431+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.416+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.413+330G>A|||||||rs5763125||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||G|G||||chr22:g.29278546G>A|||||||||||||;SpliceAI=A|EWSR1|0.00|0.00|0.00|0.00|2|9|20|-40;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000485037,ENST00000493426,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151709;gnomADv4_1_AC_joint_XX=77572;gnomADv4_1_AC_joint_XY=74137;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999611;gnomADv4_1_AF_joint_XX=0.999691;gnomADv4_1_AF_joint_XY=0.999528;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151768;gnomADv4_1_AN_joint_XX=77596;gnomADv4_1_AN_joint_XY=74172;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75825;gnomADv4_1_nhomalt_joint_XX=38774;gnomADv4_1_nhomalt_joint_XY=37051;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29278824 chr22_29278824_C_CA C CA 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=43;CADDIndel_PHREDscore=0.462;CADDIndel_Rawscore=-0.212886;CSQ=A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.413+621dup|||||||rs528971696||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl|||||1|13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+621dup|||||||rs528971696||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl|||||1|13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.413+621dup|||||||rs528971696||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl|||||1|13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.413+621dup|||||||rs528971696||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl|||||1|13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.413+621dup|||||||rs528971696||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl|||||1|13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.413+621dup|||||||rs528971696||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl|||||1|13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.431+621dup|||||||rs528971696||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl|||||1|13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.188+621dup|||||||rs528971696||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl|||||1|13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.434+621dup|||||||rs528971696||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl|||||1|13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.416+621dup|||||||rs528971696||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl|||||1|13|chr22:g.29278837dup|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs528971696|783|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl|||||1||chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.431+621dup|||||||rs528971696||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl|||||1|13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+621dup|||||||rs528971696||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl|||||1|13|chr22:g.29278837dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2588+621dup|||||||rs528971696||1||HGNC|HGNC:3508|1||||||||Ensembl|||||1|13|chr22:g.29278837dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.437+621dup|||||||rs528971696||1||HGNC|HGNC:3508|1||||||||Ensembl|||||1|13|chr22:g.29278837dup|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||||||||||rs528971696|4371|1||HGNC|HGNC:3508|5||||||||Ensembl|||||1||chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.416+621dup|||||||rs528971696||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl|||||1|13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.431+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.416+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.413+621dup|||||||rs528971696||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||||||13|chr22:g.29278837dup|||||||||||||;SpliceAI=CA|EWSR1|0.00|0.00|0.00|0.00|17|26|9|-5;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000485037,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48674;gnomADv4_1_AC_joint_XX=24879;gnomADv4_1_AC_joint_XY=23795;gnomADv4_1_AF_grpmax_joint=0.655031;gnomADv4_1_AF_joint=0.345118;gnomADv4_1_AF_joint_XX=0.341032;gnomADv4_1_AF_joint_XY=0.349495;gnomADv4_1_AN_grpmax_joint=4870;gnomADv4_1_AN_joint=141036;gnomADv4_1_AN_joint_XX=72952;gnomADv4_1_AN_joint_XY=68084;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8383;gnomADv4_1_nhomalt_joint_XX=4209;gnomADv4_1_nhomalt_joint_XY=4174;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29279412 chr22_29279412_A_G A G 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.736;CADD_Rawscore=-0.096125;CSQ=G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.413+1196A>G|||||||rs140062||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||A|A||1||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+1196A>G|||||||rs140062||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||A|A||1||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.413+1196A>G|||||||rs140062||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||A|A||1||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.413+1196A>G|||||||rs140062||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||A|A||1||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.413+1196A>G|||||||rs140062||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||A|A||1||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.413+1196A>G|||||||rs140062||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||A|A||1||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.431+1196A>G|||||||rs140062||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||A|A||1||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.188+1196A>G|||||||rs140062||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||A|A||1||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.434+1196A>G|||||||rs140062||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||A|A||1||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.416+1196A>G|||||||rs140062||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||A|A||1||chr22:g.29279412A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs140062|1371|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||A|A||1||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.431+1196A>G|||||||rs140062||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||A|A||1||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+1196A>G|||||||rs140062||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||A|A||1||chr22:g.29279412A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2588+1196A>G|||||||rs140062||1||HGNC|HGNC:3508|1||||||||Ensembl||A|A||1||chr22:g.29279412A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.437+1196A>G|||||||rs140062||1||HGNC|HGNC:3508|1||||||||Ensembl||A|A||1||chr22:g.29279412A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000485037|retained_intron||||||||||rs140062|4959|1||HGNC|HGNC:3508|5||||||||Ensembl||A|A||1||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.416+1196A>G|||||||rs140062||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||A|A||1||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.431+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.416+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.413+1196A>G|||||||rs140062||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||A|A||||chr22:g.29279412A>G|||||||||||||;SpliceAI=G|EWSR1|0.00|0.00|0.00|0.00|-21|9|30|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000485037,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49804;gnomADv4_1_AC_joint_XX=25071;gnomADv4_1_AC_joint_XY=24733;gnomADv4_1_AF_grpmax_joint=0.471666;gnomADv4_1_AF_joint=0.327387;gnomADv4_1_AF_joint_XX=0.322481;gnomADv4_1_AF_joint_XY=0.332513;gnomADv4_1_AN_grpmax_joint=15282;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=9695;gnomADv4_1_nhomalt_joint_XX=4800;gnomADv4_1_nhomalt_joint_XY=4895;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29279947 chr22_29279947_T_A T A 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=8.173;CADD_Rawscore=0.787839;CSQ=A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.413+1731T>A|||||||rs140063||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||T|T||1||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+1731T>A|||||||rs140063||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||T|T||1||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.413+1731T>A|||||||rs140063||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||T|T||1||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.413+1731T>A|||||||rs140063||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||T|T||1||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.413+1731T>A|||||||rs140063||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||T|T||1||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.413+1731T>A|||||||rs140063||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||T|T||1||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.431+1731T>A|||||||rs140063||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||T|T||1||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.188+1731T>A|||||||rs140063||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||T|T||1||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.434+1731T>A|||||||rs140063||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||T|T||1||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.416+1731T>A|||||||rs140063||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||T|T||1||chr22:g.29279947T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs140063|1906|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||T|T||1||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.431+1731T>A|||||||rs140063||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||T|T||1||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+1731T>A|||||||rs140063||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||T|T||1||chr22:g.29279947T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2588+1731T>A|||||||rs140063||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29279947T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.437+1731T>A|||||||rs140063||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.416+1731T>A|||||||rs140063||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||T|T||1||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.431+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.416+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.413+1731T>A|||||||rs140063||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||T|T||||chr22:g.29279947T>A|||||||||||||;SpliceAI=A|EWSR1|0.02|0.00|0.00|0.00|20|39|20|-35;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48894;gnomADv4_1_AC_joint_XX=24596;gnomADv4_1_AC_joint_XY=24298;gnomADv4_1_AF_grpmax_joint=0.468137;gnomADv4_1_AF_joint=0.321515;gnomADv4_1_AF_joint_XX=0.316307;gnomADv4_1_AF_joint_XY=0.326964;gnomADv4_1_AN_grpmax_joint=15284;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=9576;gnomADv4_1_nhomalt_joint_XX=4756;gnomADv4_1_nhomalt_joint_XY=4820;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29280706 chr22_29280706_T_A T A 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=4.44;CADD_Rawscore=0.404517;CSQ=A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.414-1684T>A|||||||rs131180||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||T|T||1||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+2490T>A|||||||rs131180||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||T|T||1||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.414-1684T>A|||||||rs131180||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||T|T||1||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.414-1684T>A|||||||rs131180||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||T|T||1||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.414-1684T>A|||||||rs131180||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||T|T||1||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.414-1684T>A|||||||rs131180||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||T|T||1||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.432-1684T>A|||||||rs131180||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||T|T||1||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.189-1684T>A|||||||rs131180||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||T|T||1||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.435-1684T>A|||||||rs131180||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||T|T||1||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.417-1684T>A|||||||rs131180||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||T|T||1||chr22:g.29280706T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs131180|2665|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||T|T||1||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.432-1684T>A|||||||rs131180||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||T|T||1||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+2490T>A|||||||rs131180||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||T|T||1||chr22:g.29280706T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2589-1684T>A|||||||rs131180||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29280706T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.438-1684T>A|||||||rs131180||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.417-1684T>A|||||||rs131180||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||T|T||1||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+2490T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.432-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+2490T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.417-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.417-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.417-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.417-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.417-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.417-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+2490T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.417-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.417-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.417-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.417-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.417-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+2490T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+2490T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+2490T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+2490T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+2490T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+2490T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.417-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.417-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.417-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+2490T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.417-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+2490T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.417-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+2490T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.417-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+2490T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.414-1684T>A|||||||rs131180||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||T|T||||chr22:g.29280706T>A|||||||||||||;SpliceAI=A|EWSR1|0.01|0.00|0.00|0.00|-12|13|-12|13;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48091;gnomADv4_1_AC_joint_XX=24404;gnomADv4_1_AC_joint_XY=23687;gnomADv4_1_AF_grpmax_joint=0.467407;gnomADv4_1_AF_joint=0.324212;gnomADv4_1_AF_joint_XX=0.320145;gnomADv4_1_AF_joint_XY=0.328512;gnomADv4_1_AN_grpmax_joint=14850;gnomADv4_1_AN_joint=148332;gnomADv4_1_AN_joint_XX=76228;gnomADv4_1_AN_joint_XY=72104;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=9333;gnomADv4_1_nhomalt_joint_XX=4660;gnomADv4_1_nhomalt_joint_XY=4673;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29280843 chr22_29280843_T_G T G 28 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=28;CADD_PHREDscore=1.915;CADD_Rawscore=0.152363;CSQ=G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.414-1547T>G|||||||rs141031975||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||T|T||1||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+2627T>G|||||||rs141031975||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||T|T||1||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.414-1547T>G|||||||rs141031975||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||T|T||1||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.414-1547T>G|||||||rs141031975||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||T|T||1||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.414-1547T>G|||||||rs141031975||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||T|T||1||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.414-1547T>G|||||||rs141031975||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||T|T||1||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.432-1547T>G|||||||rs141031975||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||T|T||1||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.189-1547T>G|||||||rs141031975||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||T|T||1||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.435-1547T>G|||||||rs141031975||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||T|T||1||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.417-1547T>G|||||||rs141031975||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||T|T||1||chr22:g.29280843T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs141031975|2802|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||T|T||1||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.432-1547T>G|||||||rs141031975||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||T|T||1||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+2627T>G|||||||rs141031975||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||T|T||1||chr22:g.29280843T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2589-1547T>G|||||||rs141031975||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29280843T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.438-1547T>G|||||||rs141031975||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.417-1547T>G|||||||rs141031975||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||T|T||1||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+2627T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.432-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+2627T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.417-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.417-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.417-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.417-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.417-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.417-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+2627T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.417-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.417-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.417-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.417-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.417-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+2627T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+2627T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+2627T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+2627T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+2627T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+2627T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.417-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.417-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.417-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+2627T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.417-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+2627T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.417-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+2627T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.417-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+2627T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.414-1547T>G|||||||rs141031975||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||T|T||||chr22:g.29280843T>G|||||||||||||;SpliceAI=G|EWSR1|0.00|0.00|0.00|0.00|1|-27|-27|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8033;gnomADv4_1_AC_joint_XX=4340;gnomADv4_1_AC_joint_XY=3693;gnomADv4_1_AF_grpmax_joint=0.0867494;gnomADv4_1_AF_joint=0.055668;gnomADv4_1_AF_joint_XX=0.0584559;gnomADv4_1_AF_joint_XY=0.0527135;gnomADv4_1_AN_grpmax_joint=65280;gnomADv4_1_AN_joint=144302;gnomADv4_1_AN_joint_XX=74244;gnomADv4_1_AN_joint_XY=70058;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=381;gnomADv4_1_nhomalt_joint_XX=189;gnomADv4_1_nhomalt_joint_XY=192;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29280862 chr22_29280862_GTTTTTTT_G GTTTTTTT G 22 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=22;CADDIndel_PHREDscore=0.649;CADDIndel_Rawscore=-0.127749;CSQ=-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.414-1497_414-1491del|||||||rs71196650||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||TTTTTTT|TTTTTTT||1|30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+2677_413+2683del|||||||rs71196650||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||TTTTTTT|TTTTTTT||1|30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.414-1497_414-1491del|||||||rs71196650||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||TTTTTTT|TTTTTTT||1|30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.414-1497_414-1491del|||||||rs71196650||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||TTTTTTT|TTTTTTT||1|30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.414-1497_414-1491del|||||||rs71196650||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||TTTTTTT|TTTTTTT||1|30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.414-1497_414-1491del|||||||rs71196650||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||TTTTTTT|TTTTTTT||1|30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.432-1497_432-1491del|||||||rs71196650||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||TTTTTTT|TTTTTTT||1|30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.189-1497_189-1491del|||||||rs71196650||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||TTTTTTT|TTTTTTT||1|30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.435-1497_435-1491del|||||||rs71196650||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||TTTTTTT|TTTTTTT||1|30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.417-1497_417-1491del|||||||rs71196650||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||TTTTTTT|TTTTTTT||1|30|chr22:g.29280893_29280899del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs71196650|2822|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||TTTTTTT|TTTTTTT||1||chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.432-1497_432-1491del|||||||rs71196650||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||TTTTTTT|TTTTTTT||1|30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+2677_413+2683del|||||||rs71196650||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||TTTTTTT|TTTTTTT||1|30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2589-1497_2589-1491del|||||||rs71196650||1||HGNC|HGNC:3508|1||||||||Ensembl||TTTTTTT|TTTTTTT||1|30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.438-1497_438-1491del|||||||rs71196650||1||HGNC|HGNC:3508|1||||||||Ensembl||TTTTTTT|TTTTTTT||1|30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.417-1497_417-1491del|||||||rs71196650||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||TTTTTTT|TTTTTTT||1|30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+2677_413+2683del|||||||rs71196650||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.432-1497_432-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+2677_413+2683del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.417-1497_417-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.417-1497_417-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.417-1497_417-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.417-1497_417-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.417-1497_417-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.417-1497_417-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+2677_416+2683del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.417-1497_417-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.417-1497_417-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.417-1497_417-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.417-1497_417-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.417-1497_417-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+2677_416+2683del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+2677_413+2683del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+2677_416+2683del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+2677_413+2683del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+2677_413+2683del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+2677_413+2683del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.417-1497_417-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.417-1497_417-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.417-1497_417-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+2677_416+2683del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.417-1497_417-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+2677_413+2683del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.417-1497_417-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+2677_413+2683del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.417-1497_417-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+2677_413+2683del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.414-1497_414-1491del|||||||rs71196650||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||TTTTTTT|TTTTTTT|||30|chr22:g.29280893_29280899del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24572;gnomADv4_1_AC_joint_XX=13184;gnomADv4_1_AC_joint_XY=11388;gnomADv4_1_AF_grpmax_joint=0.503571;gnomADv4_1_AF_joint=0.391224;gnomADv4_1_AF_joint_XX=0.387582;gnomADv4_1_AF_joint_XY=0.395527;gnomADv4_1_AN_grpmax_joint=1960;gnomADv4_1_AN_joint=62808;gnomADv4_1_AN_joint_XX=34016;gnomADv4_1_AN_joint_XY=28792;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5143;gnomADv4_1_nhomalt_joint_XX=2698;gnomADv4_1_nhomalt_joint_XY=2445;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29280880 chr22_29280880_T_G T G 27 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=27;CADD_PHREDscore=1.931;CADD_Rawscore=0.154617;CSQ=G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.414-1510T>G|||||||rs796420653||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||T|T||1||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+2664T>G|||||||rs796420653||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||T|T||1||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.414-1510T>G|||||||rs796420653||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||T|T||1||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.414-1510T>G|||||||rs796420653||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||T|T||1||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.414-1510T>G|||||||rs796420653||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||T|T||1||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.414-1510T>G|||||||rs796420653||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||T|T||1||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.432-1510T>G|||||||rs796420653||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||T|T||1||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.189-1510T>G|||||||rs796420653||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||T|T||1||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.435-1510T>G|||||||rs796420653||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||T|T||1||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.417-1510T>G|||||||rs796420653||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||T|T||1||chr22:g.29280880T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs796420653|2839|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||T|T||1||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.432-1510T>G|||||||rs796420653||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||T|T||1||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+2664T>G|||||||rs796420653||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||T|T||1||chr22:g.29280880T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2589-1510T>G|||||||rs796420653||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29280880T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.438-1510T>G|||||||rs796420653||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.417-1510T>G|||||||rs796420653||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||T|T||1||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+2664T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.432-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+2664T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.417-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.417-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.417-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.417-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.417-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.417-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+2664T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.417-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.417-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.417-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.417-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.417-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+2664T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+2664T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+2664T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+2664T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+2664T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+2664T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.417-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.417-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.417-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+2664T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.417-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+2664T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.417-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+2664T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.417-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+2664T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.414-1510T>G|||||||rs796420653||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||T|T||||chr22:g.29280880T>G|||||||||||||;SpliceAI=G|EWSR1|0.00|0.00|0.00|0.00|25|-1|-32|-30;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25766;gnomADv4_1_AC_joint_XX=13745;gnomADv4_1_AC_joint_XY=12021;gnomADv4_1_AF_grpmax_joint=0.438898;gnomADv4_1_AF_joint=0.310636;gnomADv4_1_AF_joint_XX=0.313927;gnomADv4_1_AF_joint_XY=0.306956;gnomADv4_1_AN_grpmax_joint=2504;gnomADv4_1_AN_joint=82946;gnomADv4_1_AN_joint_XX=43784;gnomADv4_1_AN_joint_XY=39162;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5384;gnomADv4_1_nhomalt_joint_XX=2782;gnomADv4_1_nhomalt_joint_XY=2602;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29280888 chr22_29280888_T_G T G 22 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=22;CADD_PHREDscore=3.504;CADD_Rawscore=0.321098;CSQ=G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.414-1502T>G|||||||rs577980215||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||T|T||1||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+2672T>G|||||||rs577980215||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||T|T||1||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.414-1502T>G|||||||rs577980215||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||T|T||1||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.414-1502T>G|||||||rs577980215||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||T|T||1||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.414-1502T>G|||||||rs577980215||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||T|T||1||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.414-1502T>G|||||||rs577980215||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||T|T||1||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.432-1502T>G|||||||rs577980215||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||T|T||1||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.189-1502T>G|||||||rs577980215||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||T|T||1||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.435-1502T>G|||||||rs577980215||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||T|T||1||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.417-1502T>G|||||||rs577980215||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||T|T||1||chr22:g.29280888T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs577980215|2847|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||T|T||1||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.432-1502T>G|||||||rs577980215||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||T|T||1||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+2672T>G|||||||rs577980215||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||T|T||1||chr22:g.29280888T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2589-1502T>G|||||||rs577980215||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29280888T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.438-1502T>G|||||||rs577980215||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.417-1502T>G|||||||rs577980215||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||T|T||1||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+2672T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.432-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+2672T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.417-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.417-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.417-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.417-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.417-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.417-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+2672T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.417-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.417-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.417-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.417-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.417-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+2672T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+2672T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+2672T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+2672T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+2672T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+2672T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.417-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.417-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.417-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+2672T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.417-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+2672T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.417-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+2672T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.417-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+2672T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.414-1502T>G|||||||rs577980215||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||T|T||||chr22:g.29280888T>G|||||||||||||;SpliceAI=G|EWSR1|0.00|0.00|0.00|0.00|17|-2|-40|-30;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8465;gnomADv4_1_AC_joint_XX=4369;gnomADv4_1_AC_joint_XY=4096;gnomADv4_1_AF_grpmax_joint=0.114924;gnomADv4_1_AF_joint=0.0701535;gnomADv4_1_AF_joint_XX=0.0694816;gnomADv4_1_AF_joint_XY=0.0708847;gnomADv4_1_AN_grpmax_joint=3672;gnomADv4_1_AN_joint=120664;gnomADv4_1_AN_joint_XX=62880;gnomADv4_1_AN_joint_XY=57784;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=717;gnomADv4_1_nhomalt_joint_XX=308;gnomADv4_1_nhomalt_joint_XY=409;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29281175 chr22_29281175_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.242;CADD_Rawscore=0.038635;CSQ=G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.414-1215A>G|||||||rs5997460||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||A|A||1||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+2959A>G|||||||rs5997460||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||A|A||1||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.414-1215A>G|||||||rs5997460||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||A|A||1||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.414-1215A>G|||||||rs5997460||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||A|A||1||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.414-1215A>G|||||||rs5997460||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||A|A||1||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.414-1215A>G|||||||rs5997460||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||A|A||1||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.432-1215A>G|||||||rs5997460||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||A|A||1||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.189-1215A>G|||||||rs5997460||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||A|A||1||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.435-1215A>G|||||||rs5997460||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||A|A||1||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.417-1215A>G|||||||rs5997460||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||A|A||1||chr22:g.29281175A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs5997460|3134|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||A|A||1||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.432-1215A>G|||||||rs5997460||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||A|A||1||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+2959A>G|||||||rs5997460||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||A|A||1||chr22:g.29281175A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2589-1215A>G|||||||rs5997460||1||HGNC|HGNC:3508|1||||||||Ensembl||A|A||1||chr22:g.29281175A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.438-1215A>G|||||||rs5997460||1||HGNC|HGNC:3508|1||||||||Ensembl||A|A||1||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.417-1215A>G|||||||rs5997460||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||A|A||1||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+2959A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.432-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+2959A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.417-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.417-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.417-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.417-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.417-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.417-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+2959A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.417-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.417-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.417-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.417-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.417-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+2959A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+2959A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+2959A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+2959A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+2959A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+2959A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.417-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.417-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.417-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+2959A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.417-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+2959A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.417-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+2959A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.417-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+2959A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.414-1215A>G|||||||rs5997460||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||A|A||||chr22:g.29281175A>G|||1||||||||||;SpliceAI=G|EWSR1|0.00|0.00|0.00|0.00|-42|22|-19|-17;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=127039;gnomADv4_1_AC_joint_XX=64648;gnomADv4_1_AC_joint_XY=62391;gnomADv4_1_AF_grpmax_joint=0.958641;gnomADv4_1_AF_joint=0.836179;gnomADv4_1_AF_joint_XX=0.832728;gnomADv4_1_AF_joint_XY=0.839785;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151928;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=53328;gnomADv4_1_nhomalt_joint_XX=26978;gnomADv4_1_nhomalt_joint_XY=26350;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29281363 chr22_29281363_G_A G A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.93;CADD_Rawscore=-0.036666;CSQ=A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.414-1027G>A|||||||rs6006086||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||G|G||1||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+3147G>A|||||||rs6006086||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||G|G||1||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.414-1027G>A|||||||rs6006086||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||G|G||1||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.414-1027G>A|||||||rs6006086||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||G|G||1||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.414-1027G>A|||||||rs6006086||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||G|G||1||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.414-1027G>A|||||||rs6006086||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||G|G||1||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.432-1027G>A|||||||rs6006086||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||G|G||1||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.189-1027G>A|||||||rs6006086||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||G|G||1||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.435-1027G>A|||||||rs6006086||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||G|G||1||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.417-1027G>A|||||||rs6006086||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||G|G||1||chr22:g.29281363G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs6006086|3322|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||G|G||1||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.432-1027G>A|||||||rs6006086||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||G|G||1||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+3147G>A|||||||rs6006086||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||G|G||1||chr22:g.29281363G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2589-1027G>A|||||||rs6006086||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29281363G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.438-1027G>A|||||||rs6006086||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.417-1027G>A|||||||rs6006086||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||G|G||1||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+3147G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.432-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+3147G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.417-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.417-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.417-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.417-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.417-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.417-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+3147G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.417-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.417-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.417-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.417-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.417-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+3147G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+3147G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+3147G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+3147G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+3147G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+3147G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.417-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.417-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.417-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+3147G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.417-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+3147G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.417-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+3147G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.417-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+3147G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.414-1027G>A|||||||rs6006086||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||G|G||||chr22:g.29281363G>A|||||||||||||;SpliceAI=A|EWSR1|0.00|0.00|0.00|0.00|22|-10|-13|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152103;gnomADv4_1_AC_joint_XX=77749;gnomADv4_1_AC_joint_XY=74354;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999993;gnomADv4_1_AF_joint_XX=0.999987;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68014;gnomADv4_1_AN_joint=152104;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76051;gnomADv4_1_nhomalt_joint_XX=38874;gnomADv4_1_nhomalt_joint_XY=37177;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29281368 chr22_29281368_CT_C CT C 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=2.38;CADDIndel_Rawscore=0.210337;CSQ=-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.414-1021del|||||||rs71196651||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||T|T||1||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+3153del|||||||rs71196651||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||T|T||1||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.414-1021del|||||||rs71196651||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||T|T||1||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.414-1021del|||||||rs71196651||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||T|T||1||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.414-1021del|||||||rs71196651||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||T|T||1||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.414-1021del|||||||rs71196651||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||T|T||1||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.432-1021del|||||||rs71196651||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||T|T||1||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.189-1021del|||||||rs71196651||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||T|T||1||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.435-1021del|||||||rs71196651||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||T|T||1||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.417-1021del|||||||rs71196651||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||T|T||1||chr22:g.29281369del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs71196651|3328|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||T|T||1||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.432-1021del|||||||rs71196651||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||T|T||1||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+3153del|||||||rs71196651||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||T|T||1||chr22:g.29281369del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2589-1021del|||||||rs71196651||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29281369del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.438-1021del|||||||rs71196651||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.417-1021del|||||||rs71196651||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||T|T||1||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+3153del|||||||rs71196651||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.432-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+3153del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.417-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.417-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.417-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.417-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.417-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.417-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+3153del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.417-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.417-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.417-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.417-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.417-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+3153del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+3153del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+3153del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+3153del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+3153del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+3153del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.417-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.417-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.417-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+3153del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.417-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+3153del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.417-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+3153del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.417-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+3153del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.414-1021del|||||||rs71196651||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||T|T||||chr22:g.29281369del|||||||||||||;SpliceAI=C|EWSR1|0.09|0.00|0.00|0.00|-15|17|-15|-1;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152116;gnomADv4_1_AC_joint_XX=77756;gnomADv4_1_AC_joint_XY=74360;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999987;gnomADv4_1_AF_joint_XX=0.999974;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=76057;gnomADv4_1_nhomalt_joint_XX=38877;gnomADv4_1_nhomalt_joint_XY=37180;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29281409 chr22_29281409_TC_T TC T 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.706;CADDIndel_Rawscore=-0.10686;CSQ=-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.414-978del|||||||rs131181||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||C|C||1|2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+3196del|||||||rs131181||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||C|C||1|2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.414-978del|||||||rs131181||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||C|C||1|2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.414-978del|||||||rs131181||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||C|C||1|2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.414-978del|||||||rs131181||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||C|C||1|2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.414-978del|||||||rs131181||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||C|C||1|2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.432-978del|||||||rs131181||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||C|C||1|2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.189-978del|||||||rs131181||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||C|C||1|2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.435-978del|||||||rs131181||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||C|C||1|2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.417-978del|||||||rs131181||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||C|C||1|2|chr22:g.29281412del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs131181|3369|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||C|C||1||chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.432-978del|||||||rs131181||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||C|C||1|2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+3196del|||||||rs131181||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||C|C||1|2|chr22:g.29281412del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2589-978del|||||||rs131181||1||HGNC|HGNC:3508|1||||||||Ensembl||C|C||1|2|chr22:g.29281412del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.438-978del|||||||rs131181||1||HGNC|HGNC:3508|1||||||||Ensembl||C|C||1|2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.417-978del|||||||rs131181||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||C|C||1|2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+3196del|||||||rs131181||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.432-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+3196del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.417-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.417-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.417-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.417-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.417-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.417-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+3196del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.417-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.417-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.417-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.417-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.417-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+3196del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+3196del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+3196del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+3196del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+3196del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+3196del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.417-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.417-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.417-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+3196del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.417-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+3196del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.417-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+3196del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.417-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+3196del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.414-978del|||||||rs131181||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||C|C|||2|chr22:g.29281412del|||||||||||||;SpliceAI=T|EWSR1|0.00|0.00|0.00|0.00|-3|38|42|38;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152200;gnomADv4_1_AC_joint_XX=77772;gnomADv4_1_AC_joint_XY=74428;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68008;gnomADv4_1_AN_joint=152200;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76100;gnomADv4_1_nhomalt_joint_XX=38886;gnomADv4_1_nhomalt_joint_XY=37214;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29281757 chr22_29281757_T_C T C 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.104;CADD_Rawscore=0.007941;CSQ=C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.414-633T>C|||||||rs131182||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||T|T||1||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+3541T>C|||||||rs131182||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||T|T||1||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.414-633T>C|||||||rs131182||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||T|T||1||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.414-633T>C|||||||rs131182||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||T|T||1||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.414-633T>C|||||||rs131182||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||T|T||1||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.414-633T>C|||||||rs131182||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||T|T||1||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.432-633T>C|||||||rs131182||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||T|T||1||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.189-633T>C|||||||rs131182||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||T|T||1||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.435-633T>C|||||||rs131182||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||T|T||1||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.417-633T>C|||||||rs131182||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||T|T||1||chr22:g.29281757T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs131182|3716|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||T|T||1||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.432-633T>C|||||||rs131182||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||T|T||1||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+3541T>C|||||||rs131182||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||T|T||1||chr22:g.29281757T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2589-633T>C|||||||rs131182||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29281757T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.438-633T>C|||||||rs131182||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.417-633T>C|||||||rs131182||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||T|T||1||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+3541T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.432-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+3541T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.417-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.417-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.417-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.417-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.417-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.417-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+3541T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.417-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.417-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.417-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.417-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.417-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+3541T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+3541T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+3541T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+3541T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+3541T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+3541T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.417-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.417-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.417-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+3541T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.417-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+3541T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.417-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+3541T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.417-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+3541T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.414-633T>C|||||||rs131182||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||T|T||||chr22:g.29281757T>C|||||||||||||;SpliceAI=C|EWSR1|0.00|0.00|0.00|0.00|21|12|-11|-15;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50557;gnomADv4_1_AC_joint_XX=25440;gnomADv4_1_AC_joint_XY=25117;gnomADv4_1_AF_grpmax_joint=0.478825;gnomADv4_1_AF_joint=0.333081;gnomADv4_1_AF_joint_XX=0.327852;gnomADv4_1_AF_joint_XY=0.33855;gnomADv4_1_AN_grpmax_joint=15254;gnomADv4_1_AN_joint=151786;gnomADv4_1_AN_joint_XX=77596;gnomADv4_1_AN_joint_XY=74190;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=9846;gnomADv4_1_nhomalt_joint_XX=4870;gnomADv4_1_nhomalt_joint_XY=4976;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29281978 chr22_29281978_C_A C A 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=3.967;CADD_Rawscore=0.362282;CSQ=A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||5/14|ENST00000331029.11:c.414-412C>A|||||||rs5752899||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||C|C||1||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.413+3762C>A|||||||rs5752899||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||C|C||1||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||5/16|ENST00000332050.10:c.414-412C>A|||||||rs5752899||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||C|C||1||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||5/8|ENST00000333395.11:c.414-412C>A|||||||rs5752899||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||C|C||1||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||5/16|ENST00000397938.7:c.414-412C>A|||||||rs5752899||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||C|C||1||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||5/16|ENST00000406548.5:c.414-412C>A|||||||rs5752899||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||C|C||1||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||6/17|ENST00000414183.6:c.432-412C>A|||||||rs5752899||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||C|C||1||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||4/5|ENST00000415761.5:c.189-412C>A|||||||rs5752899||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||C|C||1||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||6/6|ENST00000436425.5:c.435-412C>A|||||||rs5752899||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||C|C||1||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||5/7|ENST00000437155.6:c.417-412C>A|||||||rs5752899||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||C|C||1||chr22:g.29281978C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000444626|protein_coding||||||||||rs5752899|3937|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000416171||B0QYJ5.83|UPI0001611092|||Ensembl||C|C||1||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||6/6|ENST00000447973.5:c.432-412C>A|||||||rs5752899||1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||C|C||1||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.413+3762C>A|||||||rs5752899||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||C|C||1||chr22:g.29281978C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||1/11|ENST00000479135.5:n.2589-412C>A|||||||rs5752899||1||HGNC|HGNC:3508|1||||||||Ensembl||C|C||1||chr22:g.29281978C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||5/7|ENST00000483415.5:n.438-412C>A|||||||rs5752899||1||HGNC|HGNC:3508|1||||||||Ensembl||C|C||1||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||5/14|ENST00000629659.2:c.417-412C>A|||||||rs5752899||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||C|C||1||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||5/16|NM_001163285.2:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.413+3762C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||5/8|NM_001163287.2:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||5/16|NM_005243.4:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||6/17|NM_013986.4:c.432-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||5/16|XM_005261389.5:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.413+3762C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||5/16|XM_011529995.4:c.417-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||5/16|XM_011529996.4:c.417-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||5/16|XM_011529997.3:c.417-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||5/16|XM_011529998.3:c.417-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||5/16|XM_011529999.4:c.417-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||5/16|XM_011530000.3:c.417-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.416+3762C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||5/14|XM_011530002.4:c.417-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||5/16|XM_017028644.3:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||5/16|XM_017028645.3:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||5/16|XM_017028646.3:c.417-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||5/16|XM_017028647.3:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||5/16|XM_017028648.3:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||5/15|XM_017028649.3:c.417-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||5/15|XM_017028650.3:c.417-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||5/15|XM_017028651.3:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||5/15|XM_017028652.3:c.417-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||5/15|XM_017028653.3:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.416+3762C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.413+3762C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||5/15|XM_017028656.3:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.416+3762C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.413+3762C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||5/15|XM_017028660.3:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.413+3762C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.413+3762C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||5/14|XM_024452180.2:c.417-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||5/14|XM_024452181.2:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||5/16|XM_047441186.1:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||5/16|XM_047441187.1:c.417-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||5/15|XM_047441188.1:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||5/15|XM_047441189.1:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||5/15|XM_047441190.1:c.417-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.416+3762C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||5/15|XM_047441192.1:c.417-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||5/14|XM_047441193.1:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.413+3762C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||5/14|XM_047441195.1:c.417-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||5/14|XM_047441196.1:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.413+3762C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||5/14|XM_047441198.1:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||5/13|XM_047441199.1:c.417-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||5/13|XM_047441200.1:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.413+3762C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||5/7|XM_047441202.1:c.414-412C>A|||||||rs5752899||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||C|C||||chr22:g.29281978C>A|||||||||||||;SpliceAI=A|EWSR1|0.00|0.00|0.00|0.00|40|23|-7|-18;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000444626,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22942;gnomADv4_1_AC_joint_XX=11912;gnomADv4_1_AC_joint_XY=11030;gnomADv4_1_AF_grpmax_joint=0.280502;gnomADv4_1_AF_joint=0.15075;gnomADv4_1_AF_joint_XX=0.153134;gnomADv4_1_AF_joint_XY=0.148257;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152186;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1888;gnomADv4_1_nhomalt_joint_XX=973;gnomADv4_1_nhomalt_joint_XY=915;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29283694 chr22_29283694_AT_A AT A 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.357;CADDIndel_Rawscore=-0.277885;CSQ=-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||6/14|ENST00000331029.11:c.581+1148del|||||||rs131183||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||T|T||1|10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.414-3218del|||||||rs131183||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||T|T||1|10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||6/16|ENST00000332050.10:c.581+1148del|||||||rs131183||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||T|T||1|10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||6/8|ENST00000333395.11:c.581+1148del|||||||rs131183||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||T|T||1|10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||6/16|ENST00000397938.7:c.581+1148del|||||||rs131183||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||T|T||1|10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||6/16|ENST00000406548.5:c.581+1148del|||||||rs131183||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||T|T||1|10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||7/17|ENST00000414183.6:c.599+1148del|||||||rs131183||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||T|T||1|10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||5/5|ENST00000415761.5:c.356+1148del|||||||rs131183||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||T|T||1|10|chr22:g.29283705del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||||||||||rs131183|1271|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||T|T||1||chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||6/7|ENST00000437155.6:c.584+1148del|||||||rs131183||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||T|T||1|10|chr22:g.29283705del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||||||||||rs131183|1239|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||T|T||1||chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.414-3218del|||||||rs131183||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||T|T||1|10|chr22:g.29283705del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||2/11|ENST00000479135.5:n.2756+1148del|||||||rs131183||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1|10|chr22:g.29283705del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||6/7|ENST00000483415.5:n.605+1148del|||||||rs131183||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1|10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||6/14|ENST00000629659.2:c.584+1148del|||||||rs131183||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||T|T||1|10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||6/16|NM_001163285.2:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.414-3218del|||||||rs131183||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||6/8|NM_001163287.2:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||6/16|NM_005243.4:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||7/17|NM_013986.4:c.599+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||6/16|XM_005261389.5:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.414-3218del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||6/16|XM_011529995.4:c.584+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||6/16|XM_011529996.4:c.584+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||6/16|XM_011529997.3:c.584+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||6/16|XM_011529998.3:c.584+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||6/16|XM_011529999.4:c.584+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||6/16|XM_011530000.3:c.584+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.417-3218del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||6/14|XM_011530002.4:c.584+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||6/16|XM_017028644.3:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||6/16|XM_017028645.3:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||6/16|XM_017028646.3:c.584+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||6/16|XM_017028647.3:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||6/16|XM_017028648.3:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||6/15|XM_017028649.3:c.584+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||6/15|XM_017028650.3:c.584+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||6/15|XM_017028651.3:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||6/15|XM_017028652.3:c.584+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||6/15|XM_017028653.3:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.417-3218del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.414-3218del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||6/15|XM_017028656.3:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.417-3218del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.414-3218del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||6/15|XM_017028660.3:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.414-3218del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.414-3218del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||6/14|XM_024452180.2:c.584+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||6/14|XM_024452181.2:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||6/16|XM_047441186.1:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||6/16|XM_047441187.1:c.584+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||6/15|XM_047441188.1:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||6/15|XM_047441189.1:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||6/15|XM_047441190.1:c.584+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.417-3218del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||6/15|XM_047441192.1:c.584+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||6/14|XM_047441193.1:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.414-3218del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||6/14|XM_047441195.1:c.584+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||6/14|XM_047441196.1:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.414-3218del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||6/14|XM_047441198.1:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||6/13|XM_047441199.1:c.584+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||6/13|XM_047441200.1:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.414-3218del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||6/7|XM_047441202.1:c.581+1148del|||||||rs131183||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||T|T|||10|chr22:g.29283705del|||||||||||||;SpliceAI=A|EWSR1|0.00|0.00|0.00|0.00|3|22|11|-7;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65118;gnomADv4_1_AC_joint_XX=33248;gnomADv4_1_AC_joint_XY=31870;gnomADv4_1_AF_grpmax_joint=0.526733;gnomADv4_1_AF_joint=0.441694;gnomADv4_1_AF_joint_XX=0.440161;gnomADv4_1_AF_joint_XY=0.443304;gnomADv4_1_AN_grpmax_joint=15000;gnomADv4_1_AN_joint=147428;gnomADv4_1_AN_joint_XX=75536;gnomADv4_1_AN_joint_XY=71892;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=14886;gnomADv4_1_nhomalt_joint_XX=7598;gnomADv4_1_nhomalt_joint_XY=7288;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29283724 chr22_29283724_G_A G A 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.58;CADD_Rawscore=0.101688;CSQ=A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||6/14|ENST00000331029.11:c.581+1167G>A|||||||rs9613857||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||G|G||1||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.414-3199G>A|||||||rs9613857||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||G|G||1||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||6/16|ENST00000332050.10:c.581+1167G>A|||||||rs9613857||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||G|G||1||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||6/8|ENST00000333395.11:c.581+1167G>A|||||||rs9613857||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||G|G||1||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||6/16|ENST00000397938.7:c.581+1167G>A|||||||rs9613857||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||G|G||1||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||6/16|ENST00000406548.5:c.581+1167G>A|||||||rs9613857||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||G|G||1||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||7/17|ENST00000414183.6:c.599+1167G>A|||||||rs9613857||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||G|G||1||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||5/5|ENST00000415761.5:c.356+1167G>A|||||||rs9613857||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||G|G||1||chr22:g.29283724G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||||||||||rs9613857|1300|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||G|G||1||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||6/7|ENST00000437155.6:c.584+1167G>A|||||||rs9613857||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||G|G||1||chr22:g.29283724G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||||||||||rs9613857|1268|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||G|G||1||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.414-3199G>A|||||||rs9613857||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||G|G||1||chr22:g.29283724G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||2/11|ENST00000479135.5:n.2756+1167G>A|||||||rs9613857||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29283724G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||6/7|ENST00000483415.5:n.605+1167G>A|||||||rs9613857||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||6/14|ENST00000629659.2:c.584+1167G>A|||||||rs9613857||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||G|G||1||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||6/16|NM_001163285.2:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.414-3199G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||6/8|NM_001163287.2:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||6/16|NM_005243.4:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||7/17|NM_013986.4:c.599+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||6/16|XM_005261389.5:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.414-3199G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||6/16|XM_011529995.4:c.584+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||6/16|XM_011529996.4:c.584+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||6/16|XM_011529997.3:c.584+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||6/16|XM_011529998.3:c.584+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||6/16|XM_011529999.4:c.584+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||6/16|XM_011530000.3:c.584+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.417-3199G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||6/14|XM_011530002.4:c.584+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||6/16|XM_017028644.3:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||6/16|XM_017028645.3:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||6/16|XM_017028646.3:c.584+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||6/16|XM_017028647.3:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||6/16|XM_017028648.3:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||6/15|XM_017028649.3:c.584+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||6/15|XM_017028650.3:c.584+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||6/15|XM_017028651.3:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||6/15|XM_017028652.3:c.584+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||6/15|XM_017028653.3:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.417-3199G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.414-3199G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||6/15|XM_017028656.3:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.417-3199G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.414-3199G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||6/15|XM_017028660.3:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.414-3199G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.414-3199G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||6/14|XM_024452180.2:c.584+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||6/14|XM_024452181.2:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||6/16|XM_047441186.1:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||6/16|XM_047441187.1:c.584+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||6/15|XM_047441188.1:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||6/15|XM_047441189.1:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||6/15|XM_047441190.1:c.584+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.417-3199G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||6/15|XM_047441192.1:c.584+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||6/14|XM_047441193.1:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.414-3199G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||6/14|XM_047441195.1:c.584+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||6/14|XM_047441196.1:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.414-3199G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||6/14|XM_047441198.1:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||6/13|XM_047441199.1:c.584+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||6/13|XM_047441200.1:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.414-3199G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||6/7|XM_047441202.1:c.581+1167G>A|||||||rs9613857||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||G|G||||chr22:g.29283724G>A|||||||||||||;SpliceAI=A|EWSR1|0.00|0.00|0.00|0.00|-8|1|45|-37;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19860;gnomADv4_1_AC_joint_XX=9755;gnomADv4_1_AC_joint_XY=10105;gnomADv4_1_AF_grpmax_joint=0.307134;gnomADv4_1_AF_joint=0.131591;gnomADv4_1_AF_joint_XX=0.126399;gnomADv4_1_AF_joint_XY=0.137024;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=150922;gnomADv4_1_AN_joint_XX=77176;gnomADv4_1_AN_joint_XY=73746;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1801;gnomADv4_1_nhomalt_joint_XX=848;gnomADv4_1_nhomalt_joint_XY=953;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29283813 chr22_29283813_C_T C T 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.524;CADD_Rawscore=0.226254;CSQ=T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||6/14|ENST00000331029.11:c.581+1256C>T|||||||rs190179502||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||C|C||1||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.414-3110C>T|||||||rs190179502||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||C|C||1||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||6/16|ENST00000332050.10:c.581+1256C>T|||||||rs190179502||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||C|C||1||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||6/8|ENST00000333395.11:c.581+1256C>T|||||||rs190179502||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||C|C||1||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||6/16|ENST00000397938.7:c.581+1256C>T|||||||rs190179502||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||C|C||1||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||6/16|ENST00000406548.5:c.581+1256C>T|||||||rs190179502||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||C|C||1||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||7/17|ENST00000414183.6:c.599+1256C>T|||||||rs190179502||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||C|C||1||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||5/5|ENST00000415761.5:c.356+1256C>T|||||||rs190179502||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||C|C||1||chr22:g.29283813C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||||||||||rs190179502|1389|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||C|C||1||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||6/7|ENST00000437155.6:c.584+1256C>T|||||||rs190179502||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||C|C||1||chr22:g.29283813C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||||||||||rs190179502|1357|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||C|C||1||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.414-3110C>T|||||||rs190179502||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||C|C||1||chr22:g.29283813C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||2/11|ENST00000479135.5:n.2756+1256C>T|||||||rs190179502||1||HGNC|HGNC:3508|1||||||||Ensembl||C|C||1||chr22:g.29283813C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||6/7|ENST00000483415.5:n.605+1256C>T|||||||rs190179502||1||HGNC|HGNC:3508|1||||||||Ensembl||C|C||1||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||6/14|ENST00000629659.2:c.584+1256C>T|||||||rs190179502||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||C|C||1||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||6/16|NM_001163285.2:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.414-3110C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||6/8|NM_001163287.2:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||6/16|NM_005243.4:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||7/17|NM_013986.4:c.599+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||6/16|XM_005261389.5:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.414-3110C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||6/16|XM_011529995.4:c.584+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||6/16|XM_011529996.4:c.584+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||6/16|XM_011529997.3:c.584+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||6/16|XM_011529998.3:c.584+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||6/16|XM_011529999.4:c.584+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||6/16|XM_011530000.3:c.584+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.417-3110C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||6/14|XM_011530002.4:c.584+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||6/16|XM_017028644.3:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||6/16|XM_017028645.3:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||6/16|XM_017028646.3:c.584+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||6/16|XM_017028647.3:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||6/16|XM_017028648.3:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||6/15|XM_017028649.3:c.584+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||6/15|XM_017028650.3:c.584+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||6/15|XM_017028651.3:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||6/15|XM_017028652.3:c.584+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||6/15|XM_017028653.3:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.417-3110C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.414-3110C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||6/15|XM_017028656.3:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.417-3110C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.414-3110C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||6/15|XM_017028660.3:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.414-3110C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.414-3110C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||6/14|XM_024452180.2:c.584+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||6/14|XM_024452181.2:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||6/16|XM_047441186.1:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||6/16|XM_047441187.1:c.584+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||6/15|XM_047441188.1:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||6/15|XM_047441189.1:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||6/15|XM_047441190.1:c.584+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.417-3110C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||6/15|XM_047441192.1:c.584+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||6/14|XM_047441193.1:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.414-3110C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||6/14|XM_047441195.1:c.584+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||6/14|XM_047441196.1:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.414-3110C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||6/14|XM_047441198.1:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||6/13|XM_047441199.1:c.584+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||6/13|XM_047441200.1:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.414-3110C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||6/7|XM_047441202.1:c.581+1256C>T|||||||rs190179502||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||C|C||||chr22:g.29283813C>T|||||||||||||;SpliceAI=T|EWSR1|0.00|0.00|0.00|0.00|-2|19|-2|-44;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=250;gnomADv4_1_AC_joint_XX=126;gnomADv4_1_AC_joint_XY=124;gnomADv4_1_AF_grpmax_joint=0.0212766;gnomADv4_1_AF_joint=0.00167997;gnomADv4_1_AF_joint_XX=0.00165432;gnomADv4_1_AF_joint_XY=0.00170686;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=148812;gnomADv4_1_AN_joint_XX=76164;gnomADv4_1_AN_joint_XY=72648;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29285122 chr22_29285122_G_GT G GT 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=38;CADDIndel_PHREDscore=0.606;CADDIndel_Rawscore=-0.145265;CSQ=T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||6/14|ENST00000331029.11:c.582-1782dup|||||||rs35739164||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl|||||1|19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.414-1782dup|||||||rs35739164||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl|||||1|19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||6/16|ENST00000332050.10:c.582-1782dup|||||||rs35739164||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl|||||1|19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||6/8|ENST00000333395.11:c.582-1782dup|||||||rs35739164||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl|||||1|19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||6/16|ENST00000397938.7:c.582-1782dup|||||||rs35739164||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl|||||1|19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||6/16|ENST00000406548.5:c.582-1782dup|||||||rs35739164||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl|||||1|19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||7/17|ENST00000414183.6:c.600-1782dup|||||||rs35739164||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl|||||1|19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||5/5|ENST00000415761.5:c.357-1782dup|||||||rs35739164||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl|||||1|19|chr22:g.29285141dup|||||||||||||,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||||||||||rs35739164|2698|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl|||||1||chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||6/7|ENST00000437155.6:c.585-1782dup|||||||rs35739164||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl|||||1|19|chr22:g.29285141dup|||||||||||||,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||||||||||rs35739164|2666|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl|||||1||chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.414-1782dup|||||||rs35739164||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl|||||1|19|chr22:g.29285141dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||2/11|ENST00000479135.5:n.2757-1782dup|||||||rs35739164||1||HGNC|HGNC:3508|1||||||||Ensembl|||||1|19|chr22:g.29285141dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||6/7|ENST00000483415.5:n.606-1782dup|||||||rs35739164||1||HGNC|HGNC:3508|1||||||||Ensembl|||||1|19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||6/14|ENST00000629659.2:c.585-1782dup|||||||rs35739164||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl|||||1|19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||6/16|NM_001163285.2:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.414-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||6/8|NM_001163287.2:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||6/16|NM_005243.4:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||7/17|NM_013986.4:c.600-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||6/16|XM_005261389.5:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.414-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||6/16|XM_011529995.4:c.585-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||6/16|XM_011529996.4:c.585-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||6/16|XM_011529997.3:c.585-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||6/16|XM_011529998.3:c.585-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||6/16|XM_011529999.4:c.585-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||6/16|XM_011530000.3:c.585-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.417-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||6/14|XM_011530002.4:c.585-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||6/16|XM_017028644.3:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||6/16|XM_017028645.3:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||6/16|XM_017028646.3:c.585-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||6/16|XM_017028647.3:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||6/16|XM_017028648.3:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||6/15|XM_017028649.3:c.585-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||6/15|XM_017028650.3:c.585-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||6/15|XM_017028651.3:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||6/15|XM_017028652.3:c.585-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||6/15|XM_017028653.3:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.417-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.414-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||6/15|XM_017028656.3:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.417-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.414-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||6/15|XM_017028660.3:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.414-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.414-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||6/14|XM_024452180.2:c.585-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||6/14|XM_024452181.2:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||6/16|XM_047441186.1:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||6/16|XM_047441187.1:c.585-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||6/15|XM_047441188.1:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||6/15|XM_047441189.1:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||6/15|XM_047441190.1:c.585-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.417-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||6/15|XM_047441192.1:c.585-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||6/14|XM_047441193.1:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.414-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||6/14|XM_047441195.1:c.585-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||6/14|XM_047441196.1:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.414-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||6/14|XM_047441198.1:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||6/13|XM_047441199.1:c.585-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||6/13|XM_047441200.1:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.414-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||6/7|XM_047441202.1:c.582-1782dup|||||||rs35739164||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||||||19|chr22:g.29285141dup|||||||||||||;SpliceAI=GT|EWSR1|0.00|0.00|0.00|0.00|23|-26|46|-26;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000447973,ENST00000455726,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56553;gnomADv4_1_AC_joint_XX=30772;gnomADv4_1_AC_joint_XY=25781;gnomADv4_1_AF_grpmax_joint=0.574109;gnomADv4_1_AF_joint=0.506956;gnomADv4_1_AF_joint_XX=0.513021;gnomADv4_1_AF_joint_XY=0.499903;gnomADv4_1_AN_grpmax_joint=57928;gnomADv4_1_AN_joint=111554;gnomADv4_1_AN_joint_XX=59982;gnomADv4_1_AN_joint_XY=51572;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15469;gnomADv4_1_nhomalt_joint_XX=8461;gnomADv4_1_nhomalt_joint_XY=7008;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29286150 chr22_29286150_G_GT G GT 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.297;CADDIndel_Rawscore=-0.324536;CSQ=T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||6/14|ENST00000331029.11:c.582-764dup|||||||rs138155811||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl|||||1|9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.414-764dup|||||||rs138155811||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl|||||1|9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||6/16|ENST00000332050.10:c.582-764dup|||||||rs138155811||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl|||||1|9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||6/8|ENST00000333395.11:c.582-764dup|||||||rs138155811||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl|||||1|9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||6/16|ENST00000397938.7:c.582-764dup|||||||rs138155811||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl|||||1|9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||6/16|ENST00000406548.5:c.582-764dup|||||||rs138155811||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl|||||1|9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||7/17|ENST00000414183.6:c.600-764dup|||||||rs138155811||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl|||||1|9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||5/5|ENST00000415761.5:c.357-764dup|||||||rs138155811||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl|||||1|9|chr22:g.29286159dup|||||||||||||,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||||||||||rs138155811|3726|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl|||||1||chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||6/7|ENST00000437155.6:c.585-764dup|||||||rs138155811||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl|||||1|9|chr22:g.29286159dup|||||||||||||,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||||||||||rs138155811|3694|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl|||||1||chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.414-764dup|||||||rs138155811||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl|||||1|9|chr22:g.29286159dup|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||||||||||rs138155811|4679|1||HGNC|HGNC:3508|2||||||||Ensembl|||||1||chr22:g.29286159dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||2/11|ENST00000479135.5:n.2757-764dup|||||||rs138155811||1||HGNC|HGNC:3508|1||||||||Ensembl|||||1|9|chr22:g.29286159dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||6/7|ENST00000483415.5:n.606-764dup|||||||rs138155811||1||HGNC|HGNC:3508|1||||||||Ensembl|||||1|9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||6/14|ENST00000629659.2:c.585-764dup|||||||rs138155811||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl|||||1|9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||6/16|NM_001163285.2:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.414-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||6/8|NM_001163287.2:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||6/16|NM_005243.4:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||7/17|NM_013986.4:c.600-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||6/16|XM_005261389.5:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.414-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||6/16|XM_011529995.4:c.585-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||6/16|XM_011529996.4:c.585-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||6/16|XM_011529997.3:c.585-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||6/16|XM_011529998.3:c.585-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||6/16|XM_011529999.4:c.585-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||6/16|XM_011530000.3:c.585-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.417-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||6/14|XM_011530002.4:c.585-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||6/16|XM_017028644.3:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||6/16|XM_017028645.3:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||6/16|XM_017028646.3:c.585-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||6/16|XM_017028647.3:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||6/16|XM_017028648.3:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||6/15|XM_017028649.3:c.585-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||6/15|XM_017028650.3:c.585-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||6/15|XM_017028651.3:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||6/15|XM_017028652.3:c.585-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||6/15|XM_017028653.3:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.417-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.414-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||6/15|XM_017028656.3:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.417-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.414-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||6/15|XM_017028660.3:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.414-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.414-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||6/14|XM_024452180.2:c.585-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||6/14|XM_024452181.2:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||6/16|XM_047441186.1:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||6/16|XM_047441187.1:c.585-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||6/15|XM_047441188.1:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||6/15|XM_047441189.1:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||6/15|XM_047441190.1:c.585-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.417-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||6/15|XM_047441192.1:c.585-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||6/14|XM_047441193.1:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.414-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||6/14|XM_047441195.1:c.585-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||6/14|XM_047441196.1:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.414-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||6/14|XM_047441198.1:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||6/13|XM_047441199.1:c.585-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||6/13|XM_047441200.1:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.414-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||6/7|XM_047441202.1:c.582-764dup|||||||rs138155811||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||||||9|chr22:g.29286159dup|||||||||||||;SpliceAI=GT|EWSR1|0.00|0.00|0.00|0.00|14|-47|46|-32;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000447973,ENST00000455726,ENST00000469669,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26904;gnomADv4_1_AC_joint_XX=13386;gnomADv4_1_AC_joint_XY=13518;gnomADv4_1_AF_grpmax_joint=0.358897;gnomADv4_1_AF_joint=0.179763;gnomADv4_1_AF_joint_XX=0.17442;gnomADv4_1_AF_joint_XY=0.185386;gnomADv4_1_AN_grpmax_joint=4968;gnomADv4_1_AN_joint=149664;gnomADv4_1_AN_joint_XX=76746;gnomADv4_1_AN_joint_XY=72918;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2611;gnomADv4_1_nhomalt_joint_XX=1246;gnomADv4_1_nhomalt_joint_XY=1365;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29286686 chr22_29286686_CAA_C;chr22_29286686_CA_C CAA C 23 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=23;CADDIndel_PHREDscore=0.63;CADDIndel_Rawscore=-0.135532;CSQ=-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||6/14|ENST00000331029.11:c.582-212_582-211del|||||||rs373796997||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||AA|AA||1|24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.414-212_414-211del|||||||rs373796997||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||AA|AA||1|24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||6/16|ENST00000332050.10:c.582-212_582-211del|||||||rs373796997||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||AA|AA||1|24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||6/8|ENST00000333395.11:c.582-212_582-211del|||||||rs373796997||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||AA|AA||1|24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||6/16|ENST00000397938.7:c.582-212_582-211del|||||||rs373796997||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||AA|AA||1|24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||6/16|ENST00000406548.5:c.582-212_582-211del|||||||rs373796997||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||AA|AA||1|24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||7/17|ENST00000414183.6:c.600-212_600-211del|||||||rs373796997||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||AA|AA||1|24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||5/5|ENST00000415761.5:c.357-212_357-211del|||||||rs373796997||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||AA|AA||1|24|chr22:g.29286711_29286712del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||||||||||rs373796997|4263|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||AA|AA||1||chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||6/7|ENST00000437155.6:c.585-212_585-211del|||||||rs373796997||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||AA|AA||1|24|chr22:g.29286711_29286712del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||||||||||rs373796997|4231|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||AA|AA||1||chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.414-212_414-211del|||||||rs373796997||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||AA|AA||1|24|chr22:g.29286711_29286712del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||||||||||rs373796997|4142|1||HGNC|HGNC:3508|2||||||||Ensembl||AA|AA||1||chr22:g.29286711_29286712del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||2/11|ENST00000479135.5:n.2757-212_2757-211del|||||||rs373796997||1||HGNC|HGNC:3508|1||||||||Ensembl||AA|AA||1|24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||6/7|ENST00000483415.5:n.606-212_606-211del|||||||rs373796997||1||HGNC|HGNC:3508|1||||||||Ensembl||AA|AA||1|24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||6/14|ENST00000629659.2:c.585-212_585-211del|||||||rs373796997||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||AA|AA||1|24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||6/16|NM_001163285.2:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.414-212_414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||6/8|NM_001163287.2:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||6/16|NM_005243.4:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||7/17|NM_013986.4:c.600-212_600-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||6/16|XM_005261389.5:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.414-212_414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||6/16|XM_011529995.4:c.585-212_585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||6/16|XM_011529996.4:c.585-212_585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||6/16|XM_011529997.3:c.585-212_585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||6/16|XM_011529998.3:c.585-212_585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||6/16|XM_011529999.4:c.585-212_585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||6/16|XM_011530000.3:c.585-212_585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.417-212_417-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||6/14|XM_011530002.4:c.585-212_585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||6/16|XM_017028644.3:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||6/16|XM_017028645.3:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||6/16|XM_017028646.3:c.585-212_585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||6/16|XM_017028647.3:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||6/16|XM_017028648.3:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||6/15|XM_017028649.3:c.585-212_585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||6/15|XM_017028650.3:c.585-212_585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||6/15|XM_017028651.3:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||6/15|XM_017028652.3:c.585-212_585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||6/15|XM_017028653.3:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.417-212_417-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.414-212_414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||6/15|XM_017028656.3:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.417-212_417-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.414-212_414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||6/15|XM_017028660.3:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.414-212_414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.414-212_414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||6/14|XM_024452180.2:c.585-212_585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||6/14|XM_024452181.2:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||6/16|XM_047441186.1:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||6/16|XM_047441187.1:c.585-212_585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||6/15|XM_047441188.1:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||6/15|XM_047441189.1:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||6/15|XM_047441190.1:c.585-212_585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.417-212_417-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||6/15|XM_047441192.1:c.585-212_585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||6/14|XM_047441193.1:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.414-212_414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||6/14|XM_047441195.1:c.585-212_585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||6/14|XM_047441196.1:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.414-212_414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||6/14|XM_047441198.1:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||6/13|XM_047441199.1:c.585-212_585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||6/13|XM_047441200.1:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.414-212_414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||6/7|XM_047441202.1:c.582-212_582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||AA|AA|||24|chr22:g.29286711_29286712del|||||||||||||;SpliceAI=C|EWSR1|0.00|0.00|0.00|0.00|-22|1|33|-5;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000447973,ENST00000455726,ENST00000469669,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38617;gnomADv4_1_AC_joint_XX=21151;gnomADv4_1_AC_joint_XY=17466;gnomADv4_1_AF_grpmax_joint=0.531864;gnomADv4_1_AF_joint=0.501025;gnomADv4_1_AF_joint_XX=0.502925;gnomADv4_1_AF_joint_XY=0.498744;gnomADv4_1_AN_grpmax_joint=39386;gnomADv4_1_AN_joint=77076;gnomADv4_1_AN_joint_XX=42056;gnomADv4_1_AN_joint_XY=35020;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7797;gnomADv4_1_nhomalt_joint_XX=4228;gnomADv4_1_nhomalt_joint_XY=3569;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29286686 chr22_29286686_CAA_C;chr22_29286686_CA_C CA C 23 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=20;CADDIndel_PHREDscore=0.62;CADDIndel_Rawscore=-0.139552;CSQ=-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||6/14|ENST00000331029.11:c.582-211del|||||||rs373796997||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||A|A||1|25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.414-211del|||||||rs373796997||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||A|A||1|25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||6/16|ENST00000332050.10:c.582-211del|||||||rs373796997||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||A|A||1|25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||6/8|ENST00000333395.11:c.582-211del|||||||rs373796997||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||A|A||1|25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||6/16|ENST00000397938.7:c.582-211del|||||||rs373796997||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||A|A||1|25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||6/16|ENST00000406548.5:c.582-211del|||||||rs373796997||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||A|A||1|25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||7/17|ENST00000414183.6:c.600-211del|||||||rs373796997||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||A|A||1|25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||5/5|ENST00000415761.5:c.357-211del|||||||rs373796997||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||A|A||1|25|chr22:g.29286712del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||||||||||rs373796997|4263|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||A|A||1||chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||6/7|ENST00000437155.6:c.585-211del|||||||rs373796997||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||A|A||1|25|chr22:g.29286712del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||||||||||rs373796997|4231|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||A|A||1||chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.414-211del|||||||rs373796997||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||A|A||1|25|chr22:g.29286712del|||||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||||||||||rs373796997|4143|1||HGNC|HGNC:3508|2||||||||Ensembl||A|A||1||chr22:g.29286712del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||2/11|ENST00000479135.5:n.2757-211del|||||||rs373796997||1||HGNC|HGNC:3508|1||||||||Ensembl||A|A||1|25|chr22:g.29286712del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||6/7|ENST00000483415.5:n.606-211del|||||||rs373796997||1||HGNC|HGNC:3508|1||||||||Ensembl||A|A||1|25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||6/14|ENST00000629659.2:c.585-211del|||||||rs373796997||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||A|A||1|25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||6/16|NM_001163285.2:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||6/8|NM_001163287.2:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||6/16|NM_005243.4:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||7/17|NM_013986.4:c.600-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||6/16|XM_005261389.5:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||6/16|XM_011529995.4:c.585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||6/16|XM_011529996.4:c.585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||6/16|XM_011529997.3:c.585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||6/16|XM_011529998.3:c.585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||6/16|XM_011529999.4:c.585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||6/16|XM_011530000.3:c.585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.417-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||6/14|XM_011530002.4:c.585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||6/16|XM_017028644.3:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||6/16|XM_017028645.3:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||6/16|XM_017028646.3:c.585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||6/16|XM_017028647.3:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||6/16|XM_017028648.3:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||6/15|XM_017028649.3:c.585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||6/15|XM_017028650.3:c.585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||6/15|XM_017028651.3:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||6/15|XM_017028652.3:c.585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||6/15|XM_017028653.3:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.417-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||6/15|XM_017028656.3:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.417-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||6/15|XM_017028660.3:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||6/14|XM_024452180.2:c.585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||6/14|XM_024452181.2:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||6/16|XM_047441186.1:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||6/16|XM_047441187.1:c.585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||6/15|XM_047441188.1:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||6/15|XM_047441189.1:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||6/15|XM_047441190.1:c.585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.417-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||6/15|XM_047441192.1:c.585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||6/14|XM_047441193.1:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||6/14|XM_047441195.1:c.585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||6/14|XM_047441196.1:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||6/14|XM_047441198.1:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||6/13|XM_047441199.1:c.585-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||6/13|XM_047441200.1:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.414-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||6/7|XM_047441202.1:c.582-211del|||||||rs373796997||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||A|A|||25|chr22:g.29286712del|||||||||||||;SpliceAI=C|EWSR1|0.00|0.00|0.00|0.00|-22|-15|-27|-5;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000447973,ENST00000455726,ENST00000469669,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18850;gnomADv4_1_AC_joint_XX=10269;gnomADv4_1_AC_joint_XY=8581;gnomADv4_1_AF_grpmax_joint=0.332315;gnomADv4_1_AF_joint=0.247064;gnomADv4_1_AF_joint_XX=0.246993;gnomADv4_1_AF_joint_XY=0.247149;gnomADv4_1_AN_grpmax_joint=5892;gnomADv4_1_AN_joint=76296;gnomADv4_1_AN_joint_XX=41576;gnomADv4_1_AN_joint_XY=34720;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1518;gnomADv4_1_nhomalt_joint_XX=783;gnomADv4_1_nhomalt_joint_XY=735;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29286712 chr22_29286712_A_T A T 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.138;CADD_Rawscore=-0.524931;CSQ=T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||6/14|ENST00000331029.11:c.582-211A>T|||||||rs5997462||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||A|A||1||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||5/15|ENST00000332035.10:c.414-211A>T|||||||rs5997462||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||A|A||1||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||6/16|ENST00000332050.10:c.582-211A>T|||||||rs5997462||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||A|A||1||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||6/8|ENST00000333395.11:c.582-211A>T|||||||rs5997462||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||A|A||1||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||6/16|ENST00000397938.7:c.582-211A>T|||||||rs5997462||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||A|A||1||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||6/16|ENST00000406548.5:c.582-211A>T|||||||rs5997462||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||A|A||1||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||7/17|ENST00000414183.6:c.600-211A>T|||||||rs5997462||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||A|A||1||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||5/5|ENST00000415761.5:c.357-211A>T|||||||rs5997462||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||A|A||1||chr22:g.29286712A>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000436425|protein_coding||||||||||rs5997462|4288|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000406824||B0QYJ3.87|UPI000161108F|||Ensembl||A|A||1||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||6/7|ENST00000437155.6:c.585-211A>T|||||||rs5997462||1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||A|A||1||chr22:g.29286712A>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000447973|protein_coding||||||||||rs5997462|4256|1|cds_end_NF|HGNC|HGNC:3508|4||ENSP00000405947||B0QYJ4.94|UPI0001611091|||Ensembl||A|A||1||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||5/6|ENST00000455726.5:c.414-211A>T|||||||rs5997462||1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||A|A||1||chr22:g.29286712A>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||||||||||rs5997462|4118|1||HGNC|HGNC:3508|2||||||||Ensembl||A|A||1||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||2/11|ENST00000479135.5:n.2757-211A>T|||||||rs5997462||1||HGNC|HGNC:3508|1||||||||Ensembl||A|A||1||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||6/7|ENST00000483415.5:n.606-211A>T|||||||rs5997462||1||HGNC|HGNC:3508|1||||||||Ensembl||A|A||1||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||6/14|ENST00000629659.2:c.585-211A>T|||||||rs5997462||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||A|A||1||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||6/16|NM_001163285.2:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||5/15|NM_001163286.2:c.414-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||6/8|NM_001163287.2:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||6/16|NM_005243.4:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||7/17|NM_013986.4:c.600-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||6/16|XM_005261389.5:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||5/15|XM_005261390.5:c.414-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||6/16|XM_011529995.4:c.585-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||6/16|XM_011529996.4:c.585-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||6/16|XM_011529997.3:c.585-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||6/16|XM_011529998.3:c.585-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||6/16|XM_011529999.4:c.585-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||6/16|XM_011530000.3:c.585-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||5/15|XM_011530001.3:c.417-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||6/14|XM_011530002.4:c.585-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||6/16|XM_017028644.3:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||6/16|XM_017028645.3:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||6/16|XM_017028646.3:c.585-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||6/16|XM_017028647.3:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||6/16|XM_017028648.3:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||6/15|XM_017028649.3:c.585-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||6/15|XM_017028650.3:c.585-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||6/15|XM_017028651.3:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||6/15|XM_017028652.3:c.585-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||6/15|XM_017028653.3:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||5/15|XM_017028654.2:c.417-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||5/15|XM_017028655.2:c.414-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||6/15|XM_017028656.3:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||5/15|XM_017028658.2:c.417-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||5/15|XM_017028659.2:c.414-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||6/15|XM_017028660.3:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||5/15|XM_017028662.3:c.414-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||5/14|XM_017028663.2:c.414-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||6/14|XM_024452180.2:c.585-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||6/14|XM_024452181.2:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||6/16|XM_047441186.1:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||6/16|XM_047441187.1:c.585-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||6/15|XM_047441188.1:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||6/15|XM_047441189.1:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||6/15|XM_047441190.1:c.585-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||5/15|XM_047441191.1:c.417-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||6/15|XM_047441192.1:c.585-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||6/14|XM_047441193.1:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||5/15|XM_047441194.1:c.414-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||6/14|XM_047441195.1:c.585-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||6/14|XM_047441196.1:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||5/15|XM_047441197.1:c.414-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||6/14|XM_047441198.1:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||6/13|XM_047441199.1:c.585-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||6/13|XM_047441200.1:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||5/13|XM_047441201.1:c.414-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||6/7|XM_047441202.1:c.582-211A>T|||||||rs5997462||1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||A|A||||chr22:g.29286712A>T|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29286712A>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=EWSR1:2130;ClinVar_Variation_ID=1248405;SpliceAI=T|EWSR1|0.00|0.00|0.00|0.00|49|-41|-49|-31;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000436425,ENST00000437155,ENST00000447973,ENST00000455726,ENST00000469669,ENST00000479135,ENST00000483415,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27091;gnomADv4_1_AC_joint_XX=13795;gnomADv4_1_AC_joint_XY=13296;gnomADv4_1_AF_grpmax_joint=0.400046;gnomADv4_1_AF_joint=0.223516;gnomADv4_1_AF_joint_XX=0.218934;gnomADv4_1_AF_joint_XY=0.228477;gnomADv4_1_AN_grpmax_joint=4342;gnomADv4_1_AN_joint=121204;gnomADv4_1_AN_joint_XX=63010;gnomADv4_1_AN_joint_XY=58194;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3002;gnomADv4_1_nhomalt_joint_XX=1458;gnomADv4_1_nhomalt_joint_XY=1544;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29289722 chr22_29289722_C_T C T 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.309;CADD_Rawscore=-0.314582;CSQ=T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||8/14|ENST00000331029.11:c.943+967C>T|||||||rs28755||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||C|C||1||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||7/15|ENST00000332035.10:c.806+936C>T|||||||rs28755||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||C|C||1||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||8/16|ENST00000332050.10:c.869+660C>T|||||||rs28755||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||C|C||1||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||8/8|ENST00000333395.11:c.975-691C>T|||||||rs28755||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||C|C||1||chr22:g.29289722C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||||||||||rs28755|2437|1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||C|C||1||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||8/16|ENST00000397938.7:c.974+936C>T|||||||rs28755||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||C|C||1||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||8/16|ENST00000406548.5:c.974+936C>T|||||||rs28755||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||C|C||1||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||9/17|ENST00000414183.6:c.992+936C>T|||||||rs28755||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||C|C||1||chr22:g.29289722C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||||||||||rs28755|2616|1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||C|C||1||chr22:g.29289722C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||||||||||rs28755|1035|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||C|C||1||chr22:g.29289722C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||||||||||rs28755|1043|1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||C|C||1||chr22:g.29289722C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||||||||||rs28755|1108|1||HGNC|HGNC:3508|2||||||||Ensembl||C|C||1||chr22:g.29289722C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron|4/12||ENST00000479135.5:n.4085C>T||4085|||||rs28755||1||HGNC|HGNC:3508|1||||||||Ensembl||C|C||1||chr22:g.29289722C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron|8/8||ENST00000483415.5:n.1934C>T||1934|||||rs28755||1||HGNC|HGNC:3508|1||||||||Ensembl||C|C||1||chr22:g.29289722C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||||||||||rs28755|2207|1||HGNC|HGNC:3508|5||||||||Ensembl||C|C||1||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||7/14|ENST00000629659.2:c.797-2415C>T|||||||rs28755||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||C|C||1||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||8/16|NM_001163285.2:c.974+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||7/15|NM_001163286.2:c.806+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||8/8|NM_001163287.2:c.975-691C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||8/16|NM_005243.4:c.974+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||9/17|NM_013986.4:c.992+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||8/16|XM_005261389.5:c.974+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||7/15|XM_005261390.5:c.806+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||8/16|XM_011529995.4:c.977+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||8/16|XM_011529996.4:c.977+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||8/16|XM_011529997.3:c.977+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||8/16|XM_011529998.3:c.977+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||8/16|XM_011529999.4:c.977+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||8/16|XM_011530000.3:c.977+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||7/15|XM_011530001.3:c.809+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||7/14|XM_011530002.4:c.797-2415C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||8/16|XM_017028644.3:c.974+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||8/16|XM_017028645.3:c.974+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||8/16|XM_017028646.3:c.977+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||8/16|XM_017028647.3:c.974+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||8/16|XM_017028648.3:c.974+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||8/15|XM_017028649.3:c.977+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||8/15|XM_017028650.3:c.977+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||8/15|XM_017028651.3:c.974+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||8/15|XM_017028652.3:c.977+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||8/15|XM_017028653.3:c.974+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||7/15|XM_017028654.2:c.809+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||7/15|XM_017028655.2:c.806+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||8/15|XM_017028656.3:c.974+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||7/15|XM_017028658.2:c.809+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||7/15|XM_017028659.2:c.806+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||8/15|XM_017028660.3:c.974+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||7/15|XM_017028662.3:c.806+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||7/14|XM_017028663.2:c.806+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||7/14|XM_024452180.2:c.797-2415C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||7/14|XM_024452181.2:c.794-2415C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||8/16|XM_047441186.1:c.974+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||8/16|XM_047441187.1:c.977+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||8/15|XM_047441188.1:c.974+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||8/15|XM_047441189.1:c.974+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||8/15|XM_047441190.1:c.977+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||7/15|XM_047441191.1:c.809+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||8/15|XM_047441192.1:c.977+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||7/14|XM_047441193.1:c.794-2415C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||7/15|XM_047441194.1:c.806+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||7/14|XM_047441195.1:c.797-2415C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||7/14|XM_047441196.1:c.794-2415C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||7/15|XM_047441197.1:c.806+936C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||7/14|XM_047441198.1:c.794-2415C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||7/13|XM_047441199.1:c.797-2415C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||7/13|XM_047441200.1:c.794-2415C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||6/13|XM_047441201.1:c.626-2415C>T|||||||rs28755||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||||||||||rs28755|932|1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||C|C||||chr22:g.29289722C>T|||||||||||||;SpliceAI=T|EWSR1|0.00|0.00|0.00|0.00|46|3|46|-46;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000437155,ENST00000455726,ENST00000469669,ENST00000479135,ENST00000483415,ENST00000483629,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=145278;gnomADv4_1_AC_joint_XX=76042;gnomADv4_1_AC_joint_XY=69236;gnomADv4_1_AF_grpmax_joint=0.78312;gnomADv4_1_AF_joint=0.626322;gnomADv4_1_AF_joint_XX=0.629018;gnomADv4_1_AF_joint_XY=0.623388;gnomADv4_1_AN_grpmax_joint=45366;gnomADv4_1_AN_joint=231954;gnomADv4_1_AN_joint_XX=120890;gnomADv4_1_AN_joint_XY=111064;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=46453;gnomADv4_1_nhomalt_joint_XX=24415;gnomADv4_1_nhomalt_joint_XY=22038;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29289763 chr22_29289763_A_G A G 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.921;CADD_Rawscore=-0.03892;CSQ=G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||8/14|ENST00000331029.11:c.943+1008A>G|||||||rs5763131||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||A|A||1||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||7/15|ENST00000332035.10:c.806+977A>G|||||||rs5763131||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||A|A||1||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||8/16|ENST00000332050.10:c.869+701A>G|||||||rs5763131||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||A|A||1||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||8/8|ENST00000333395.11:c.975-650A>G|||||||rs5763131||1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||A|A||1||chr22:g.29289763A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||||||||||rs5763131|2396|1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||A|A||1||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||8/16|ENST00000397938.7:c.974+977A>G|||||||rs5763131||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||A|A||1||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||8/16|ENST00000406548.5:c.974+977A>G|||||||rs5763131||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||A|A||1||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||9/17|ENST00000414183.6:c.992+977A>G|||||||rs5763131||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||A|A||1||chr22:g.29289763A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000415761|protein_coding||||||||||rs5763131|2657|1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000395200||B0QYJ6.86|UPI0001611093|||Ensembl||A|A||1||chr22:g.29289763A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||||||||||rs5763131|1076|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||A|A||1||chr22:g.29289763A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||||||||||rs5763131|1084|1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||A|A||1||chr22:g.29289763A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||||||||||rs5763131|1067|1||HGNC|HGNC:3508|2||||||||Ensembl||A|A||1||chr22:g.29289763A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron|4/12||ENST00000479135.5:n.4126A>G||4126|||||rs5763131||1||HGNC|HGNC:3508|1||||||||Ensembl||A|A||1||chr22:g.29289763A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron|8/8||ENST00000483415.5:n.1975A>G||1975|||||rs5763131||1||HGNC|HGNC:3508|1||||||||Ensembl||A|A||1||chr22:g.29289763A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||||||||||rs5763131|2166|1||HGNC|HGNC:3508|5||||||||Ensembl||A|A||1||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||7/14|ENST00000629659.2:c.797-2374A>G|||||||rs5763131||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||A|A||1||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||8/16|NM_001163285.2:c.974+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||7/15|NM_001163286.2:c.806+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||8/8|NM_001163287.2:c.975-650A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||8/16|NM_005243.4:c.974+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||9/17|NM_013986.4:c.992+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||8/16|XM_005261389.5:c.974+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||7/15|XM_005261390.5:c.806+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||8/16|XM_011529995.4:c.977+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||8/16|XM_011529996.4:c.977+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||8/16|XM_011529997.3:c.977+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||8/16|XM_011529998.3:c.977+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||8/16|XM_011529999.4:c.977+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||8/16|XM_011530000.3:c.977+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||7/15|XM_011530001.3:c.809+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||7/14|XM_011530002.4:c.797-2374A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||8/16|XM_017028644.3:c.974+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||8/16|XM_017028645.3:c.974+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||8/16|XM_017028646.3:c.977+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||8/16|XM_017028647.3:c.974+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||8/16|XM_017028648.3:c.974+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||8/15|XM_017028649.3:c.977+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||8/15|XM_017028650.3:c.977+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||8/15|XM_017028651.3:c.974+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||8/15|XM_017028652.3:c.977+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||8/15|XM_017028653.3:c.974+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||7/15|XM_017028654.2:c.809+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||7/15|XM_017028655.2:c.806+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||8/15|XM_017028656.3:c.974+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||7/15|XM_017028658.2:c.809+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||7/15|XM_017028659.2:c.806+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||8/15|XM_017028660.3:c.974+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||7/15|XM_017028662.3:c.806+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||7/14|XM_017028663.2:c.806+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||7/14|XM_024452180.2:c.797-2374A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||7/14|XM_024452181.2:c.794-2374A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||8/16|XM_047441186.1:c.974+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||8/16|XM_047441187.1:c.977+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||8/15|XM_047441188.1:c.974+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||8/15|XM_047441189.1:c.974+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||8/15|XM_047441190.1:c.977+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||7/15|XM_047441191.1:c.809+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||8/15|XM_047441192.1:c.977+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||7/14|XM_047441193.1:c.794-2374A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||7/15|XM_047441194.1:c.806+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||7/14|XM_047441195.1:c.797-2374A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||7/14|XM_047441196.1:c.794-2374A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||7/15|XM_047441197.1:c.806+977A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||7/14|XM_047441198.1:c.794-2374A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||7/13|XM_047441199.1:c.797-2374A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||7/13|XM_047441200.1:c.794-2374A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||6/13|XM_047441201.1:c.626-2374A>G|||||||rs5763131||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||||||||||rs5763131|973|1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||A|A||||chr22:g.29289763A>G|||||||||||||;SpliceAI=G|EWSR1|0.00|0.00|0.00|0.00|-38|5|-1|5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000415761,ENST00000437155,ENST00000455726,ENST00000469669,ENST00000479135,ENST00000483415,ENST00000483629,ENST00000629659,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42217;gnomADv4_1_AC_joint_XX=22209;gnomADv4_1_AC_joint_XY=20008;gnomADv4_1_AF_grpmax_joint=0.34183;gnomADv4_1_AF_joint=0.181959;gnomADv4_1_AF_joint_XX=0.183658;gnomADv4_1_AF_joint_XY=0.180109;gnomADv4_1_AN_grpmax_joint=16280;gnomADv4_1_AN_joint=232014;gnomADv4_1_AN_joint_XX=120926;gnomADv4_1_AN_joint_XY=111088;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4129;gnomADv4_1_nhomalt_joint_XX=2188;gnomADv4_1_nhomalt_joint_XY=1941;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29292643 chr22_29292643_T_G T G 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=10.06;CADD_Rawscore=0.976612;CSQ=G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||9/14|ENST00000331029.11:c.1050+37T>G|||||||rs3761426||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||T|T||1||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||10/15|ENST00000332035.10:c.996+37T>G|||||||rs3761426||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||T|T||1||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||11/16|ENST00000332050.10:c.1056+37T>G|||||||rs3761426||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||T|T||1||chr22:g.29292643T>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||||||||||rs3761426|1959|1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||T|T||1||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||2/7|ENST00000360091.3:c.130+37T>G|||||||rs3761426||1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||T|T||1||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||11/16|ENST00000397938.7:c.1164+37T>G|||||||rs3761426||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||T|T||1||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||11/16|ENST00000406548.5:c.1161+37T>G|||||||rs3761426||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||T|T||1||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||12/17|ENST00000414183.6:c.1179+37T>G|||||||rs3761426||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||T|T||1||chr22:g.29292643T>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||||||||||rs3761426|3956|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||T|T||1||chr22:g.29292643T>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||||||||||rs3761426|3964|1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||T|T||1||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||2/7|ENST00000469669.5:n.1459+37T>G|||||||rs3761426||1||HGNC|HGNC:3508|2||||||||Ensembl||T|T||1||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||6/11|ENST00000479135.5:n.6114+37T>G|||||||rs3761426||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29292643T>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||||||||||rs3761426|1624|1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||2/6|ENST00000483629.5:n.360+37T>G|||||||rs3761426||1||HGNC|HGNC:3508|5||||||||Ensembl||T|T||1||chr22:g.29292643T>G|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||||||||||rs3761426|2883|1||HGNC|HGNC:3508|2||||||||Ensembl||T|T||1||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||9/14|ENST00000629659.2:c.948+37T>G|||||||rs3761426||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||T|T||1||chr22:g.29292643T>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||||||||||rs3761426|3885|-1||||||||||||Ensembl||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||11/16|NM_001163285.2:c.1161+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||10/15|NM_001163286.2:c.996+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||||||||||rs3761426|1959|1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||11/16|NM_005243.4:c.1164+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||12/17|NM_013986.4:c.1179+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||11/16|XM_005261389.5:c.1164+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||10/15|XM_005261390.5:c.996+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||11/16|XM_011529995.4:c.1167+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||11/16|XM_011529996.4:c.1164+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||11/16|XM_011529997.3:c.1167+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||11/16|XM_011529998.3:c.1164+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||11/16|XM_011529999.4:c.1167+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||11/16|XM_011530000.3:c.1167+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||10/15|XM_011530001.3:c.999+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||9/14|XM_011530002.4:c.948+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||11/16|XM_017028644.3:c.1161+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||11/16|XM_017028645.3:c.1164+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||11/16|XM_017028646.3:c.1164+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||11/16|XM_017028647.3:c.1161+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||11/16|XM_017028648.3:c.1161+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||11/15|XM_017028649.3:c.1167+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||11/15|XM_017028650.3:c.1167+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||11/15|XM_017028651.3:c.1164+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||11/15|XM_017028652.3:c.1164+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||11/15|XM_017028653.3:c.1161+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||10/15|XM_017028654.2:c.996+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||10/15|XM_017028655.2:c.993+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||11/15|XM_017028656.3:c.1164+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||10/15|XM_017028658.2:c.996+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||10/15|XM_017028659.2:c.993+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||11/15|XM_017028660.3:c.1161+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||10/15|XM_017028662.3:c.993+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||10/14|XM_017028663.2:c.993+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||9/14|XM_024452180.2:c.948+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||9/14|XM_024452181.2:c.945+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||11/16|XM_047441186.1:c.1164+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||11/16|XM_047441187.1:c.1164+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||11/15|XM_047441188.1:c.1164+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||11/15|XM_047441189.1:c.1161+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||11/15|XM_047441190.1:c.1167+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||10/15|XM_047441191.1:c.999+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||11/15|XM_047441192.1:c.1167+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||9/14|XM_047441193.1:c.945+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||10/15|XM_047441194.1:c.996+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||9/14|XM_047441195.1:c.948+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||9/14|XM_047441196.1:c.945+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||10/15|XM_047441197.1:c.996+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||9/14|XM_047441198.1:c.945+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||9/13|XM_047441199.1:c.948+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||9/13|XM_047441200.1:c.945+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||8/13|XM_047441201.1:c.777+37T>G|||||||rs3761426||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||||||||||rs3761426|3853|1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||T|T||||chr22:g.29292643T>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29292643T>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=EWSR1:2130;ClinVar_Variation_ID=1280213;SpliceAI=G|EWSR1|0.00|0.00|0.00|0.00|44|-37|-37|-33;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000437155,ENST00000455726,ENST00000469669,ENST00000479135,ENST00000483415,ENST00000483629,ENST00000610553,ENST00000629659,ENST00000780180,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000301612,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=227588;gnomADv4_1_AC_joint_XX=110525;gnomADv4_1_AC_joint_XY=117063;gnomADv4_1_AF_grpmax_joint=0.292101;gnomADv4_1_AF_joint=0.166264;gnomADv4_1_AF_joint_XX=0.16221;gnomADv4_1_AF_joint_XY=0.170282;gnomADv4_1_AN_grpmax_joint=84464;gnomADv4_1_AN_joint=1368836;gnomADv4_1_AN_joint_XX=681370;gnomADv4_1_AN_joint_XY=687466;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=21063;gnomADv4_1_nhomalt_joint_XX=9847;gnomADv4_1_nhomalt_joint_XY=11216;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29292762 chr22_29292762_CT_C;chr22_29292762_CTT_C CTT C 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADDIndel_PHREDscore=1.717;CADDIndel_Rawscore=0.123705;CSQ=-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||9/14|ENST00000331029.11:c.1050+174_1050+175del|||||||rs34395867||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||TT|TT||1|17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||10/15|ENST00000332035.10:c.996+174_996+175del|||||||rs34395867||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||TT|TT||1|17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||11/16|ENST00000332050.10:c.1056+174_1056+175del|||||||rs34395867||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||TT|TT||1|17|chr22:g.29292780_29292781del|benign||1||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||||||||||rs34395867|2079|1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||TT|TT||1||chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||2/7|ENST00000360091.3:c.130+174_130+175del|||||||rs34395867||1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||TT|TT||1|17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||11/16|ENST00000397938.7:c.1164+174_1164+175del|||||||rs34395867||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||TT|TT||1|17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||11/16|ENST00000406548.5:c.1161+174_1161+175del|||||||rs34395867||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||TT|TT||1|17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||12/17|ENST00000414183.6:c.1179+174_1179+175del|||||||rs34395867||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||TT|TT||1|17|chr22:g.29292780_29292781del|benign||1||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||||||||||rs34395867|4076|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||TT|TT||1||chr22:g.29292780_29292781del|benign||1||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||||||||||rs34395867|4084|1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||TT|TT||1||chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||2/7|ENST00000469669.5:n.1459+174_1459+175del|||||||rs34395867||1||HGNC|HGNC:3508|2||||||||Ensembl||TT|TT||1|17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||6/11|ENST00000479135.5:n.6114+174_6114+175del|||||||rs34395867||1||HGNC|HGNC:3508|1||||||||Ensembl||TT|TT||1|17|chr22:g.29292780_29292781del|benign||1||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||||||||||rs34395867|1744|1||HGNC|HGNC:3508|1||||||||Ensembl||TT|TT||1||chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||2/6|ENST00000483629.5:n.360+174_360+175del|||||||rs34395867||1||HGNC|HGNC:3508|5||||||||Ensembl||TT|TT||1|17|chr22:g.29292780_29292781del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||||||||||rs34395867|2762|1||HGNC|HGNC:3508|2||||||||Ensembl||TT|TT||1||chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||9/14|ENST00000629659.2:c.948+174_948+175del|||||||rs34395867||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||TT|TT||1|17|chr22:g.29292780_29292781del|benign||1||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||||||||||rs34395867|3764|-1||||||||||||Ensembl||TT|TT||||chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||11/16|NM_001163285.2:c.1161+174_1161+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||10/15|NM_001163286.2:c.996+174_996+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||||||||||rs34395867|2079|1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||TT|TT||||chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||11/16|NM_005243.4:c.1164+174_1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||12/17|NM_013986.4:c.1179+174_1179+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||11/16|XM_005261389.5:c.1164+174_1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||10/15|XM_005261390.5:c.996+174_996+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||11/16|XM_011529995.4:c.1167+174_1167+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||11/16|XM_011529996.4:c.1164+174_1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||11/16|XM_011529997.3:c.1167+174_1167+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||11/16|XM_011529998.3:c.1164+174_1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||11/16|XM_011529999.4:c.1167+174_1167+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||11/16|XM_011530000.3:c.1167+174_1167+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||10/15|XM_011530001.3:c.999+174_999+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||9/14|XM_011530002.4:c.948+174_948+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||11/16|XM_017028644.3:c.1161+174_1161+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||11/16|XM_017028645.3:c.1164+174_1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||11/16|XM_017028646.3:c.1164+174_1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||11/16|XM_017028647.3:c.1161+174_1161+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||11/16|XM_017028648.3:c.1161+174_1161+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||11/15|XM_017028649.3:c.1167+174_1167+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||11/15|XM_017028650.3:c.1167+174_1167+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||11/15|XM_017028651.3:c.1164+174_1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||11/15|XM_017028652.3:c.1164+174_1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||11/15|XM_017028653.3:c.1161+174_1161+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||10/15|XM_017028654.2:c.996+174_996+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||10/15|XM_017028655.2:c.993+174_993+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||11/15|XM_017028656.3:c.1164+174_1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||10/15|XM_017028658.2:c.996+174_996+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||10/15|XM_017028659.2:c.993+174_993+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||11/15|XM_017028660.3:c.1161+174_1161+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||10/15|XM_017028662.3:c.993+174_993+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||10/14|XM_017028663.2:c.993+174_993+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||9/14|XM_024452180.2:c.948+174_948+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||9/14|XM_024452181.2:c.945+174_945+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||11/16|XM_047441186.1:c.1164+174_1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||11/16|XM_047441187.1:c.1164+174_1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||11/15|XM_047441188.1:c.1164+174_1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||11/15|XM_047441189.1:c.1161+174_1161+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||11/15|XM_047441190.1:c.1167+174_1167+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||10/15|XM_047441191.1:c.999+174_999+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||11/15|XM_047441192.1:c.1167+174_1167+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||9/14|XM_047441193.1:c.945+174_945+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||10/15|XM_047441194.1:c.996+174_996+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||9/14|XM_047441195.1:c.948+174_948+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||9/14|XM_047441196.1:c.945+174_945+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||10/15|XM_047441197.1:c.996+174_996+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||9/14|XM_047441198.1:c.945+174_945+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||9/13|XM_047441199.1:c.948+174_948+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||9/13|XM_047441200.1:c.945+174_945+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||8/13|XM_047441201.1:c.777+174_777+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||TT|TT|||17|chr22:g.29292780_29292781del|benign||1||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||||||||||rs34395867|3973|1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||TT|TT||||chr22:g.29292780_29292781del|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29292780_29292781del;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=EWSR1:2130;ClinVar_Variation_ID=1242769;SpliceAI=C|EWSR1|0.00|0.00|0.00|0.00|-37|23|-38|23;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000437155,ENST00000455726,ENST00000469669,ENST00000479135,ENST00000483415,ENST00000483629,ENST00000610553,ENST00000629659,ENST00000780180,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000301612,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14624;gnomADv4_1_AC_joint_XX=7627;gnomADv4_1_AC_joint_XY=6997;gnomADv4_1_AF_grpmax_joint=0.291113;gnomADv4_1_AF_joint=0.144372;gnomADv4_1_AF_joint_XX=0.141016;gnomADv4_1_AF_joint_XY=0.148216;gnomADv4_1_AN_grpmax_joint=2858;gnomADv4_1_AN_joint=101294;gnomADv4_1_AN_joint_XX=54086;gnomADv4_1_AN_joint_XY=47208;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=636;gnomADv4_1_nhomalt_joint_XX=310;gnomADv4_1_nhomalt_joint_XY=326;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29292762 chr22_29292762_CT_C;chr22_29292762_CTT_C CT C 49 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.12;CADDIndel_Rawscore=-0.563374;CSQ=-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||9/14|ENST00000331029.11:c.1050+175del|||||||rs34395867||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||T|T||1|18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||10/15|ENST00000332035.10:c.996+175del|||||||rs34395867||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||T|T||1|18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||11/16|ENST00000332050.10:c.1056+175del|||||||rs34395867||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||T|T||1|18|chr22:g.29292781del|benign||1||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||||||||||rs34395867|2079|1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||T|T||1||chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||2/7|ENST00000360091.3:c.130+175del|||||||rs34395867||1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||T|T||1|18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||11/16|ENST00000397938.7:c.1164+175del|||||||rs34395867||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||T|T||1|18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||11/16|ENST00000406548.5:c.1161+175del|||||||rs34395867||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||T|T||1|18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||12/17|ENST00000414183.6:c.1179+175del|||||||rs34395867||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||T|T||1|18|chr22:g.29292781del|benign||1||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000437155|protein_coding||||||||||rs34395867|4076|1|cds_end_NF|HGNC|HGNC:3508|5||ENSP00000412670||F8WC90.75|UPI0003F483B1|||Ensembl||T|T||1||chr22:g.29292781del|benign||1||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000455726|protein_coding||||||||||rs34395867|4084|1|cds_end_NF|HGNC|HGNC:3508|3||ENSP00000393637||B0QYJ7.88|UPI0001611094|||Ensembl||T|T||1||chr22:g.29292781del|benign||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||2/7|ENST00000469669.5:n.1459+175del|||||||rs34395867||1||HGNC|HGNC:3508|2||||||||Ensembl||T|T||1|18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||6/11|ENST00000479135.5:n.6114+175del|||||||rs34395867||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1|18|chr22:g.29292781del|benign||1||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||||||||||rs34395867|1744|1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29292781del|benign||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||2/6|ENST00000483629.5:n.360+175del|||||||rs34395867||1||HGNC|HGNC:3508|5||||||||Ensembl||T|T||1|18|chr22:g.29292781del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||||||||||rs34395867|2763|1||HGNC|HGNC:3508|2||||||||Ensembl||T|T||1||chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||9/14|ENST00000629659.2:c.948+175del|||||||rs34395867||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||T|T||1|18|chr22:g.29292781del|benign||1||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||||||||||rs34395867|3765|-1||||||||||||Ensembl||T|T||||chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||11/16|NM_001163285.2:c.1161+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||10/15|NM_001163286.2:c.996+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||||||||||rs34395867|2079|1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||T|T||||chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||11/16|NM_005243.4:c.1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||12/17|NM_013986.4:c.1179+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||11/16|XM_005261389.5:c.1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||10/15|XM_005261390.5:c.996+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||11/16|XM_011529995.4:c.1167+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||11/16|XM_011529996.4:c.1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||11/16|XM_011529997.3:c.1167+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||11/16|XM_011529998.3:c.1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||11/16|XM_011529999.4:c.1167+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||11/16|XM_011530000.3:c.1167+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||10/15|XM_011530001.3:c.999+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||9/14|XM_011530002.4:c.948+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||11/16|XM_017028644.3:c.1161+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||11/16|XM_017028645.3:c.1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||11/16|XM_017028646.3:c.1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||11/16|XM_017028647.3:c.1161+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||11/16|XM_017028648.3:c.1161+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||11/15|XM_017028649.3:c.1167+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||11/15|XM_017028650.3:c.1167+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||11/15|XM_017028651.3:c.1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||11/15|XM_017028652.3:c.1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||11/15|XM_017028653.3:c.1161+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||10/15|XM_017028654.2:c.996+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||10/15|XM_017028655.2:c.993+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||11/15|XM_017028656.3:c.1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||10/15|XM_017028658.2:c.996+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||10/15|XM_017028659.2:c.993+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||11/15|XM_017028660.3:c.1161+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||10/15|XM_017028662.3:c.993+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||10/14|XM_017028663.2:c.993+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||9/14|XM_024452180.2:c.948+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||9/14|XM_024452181.2:c.945+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||11/16|XM_047441186.1:c.1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||11/16|XM_047441187.1:c.1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||11/15|XM_047441188.1:c.1164+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||11/15|XM_047441189.1:c.1161+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||11/15|XM_047441190.1:c.1167+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||10/15|XM_047441191.1:c.999+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||11/15|XM_047441192.1:c.1167+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||9/14|XM_047441193.1:c.945+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||10/15|XM_047441194.1:c.996+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||9/14|XM_047441195.1:c.948+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||9/14|XM_047441196.1:c.945+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||10/15|XM_047441197.1:c.996+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||9/14|XM_047441198.1:c.945+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||9/13|XM_047441199.1:c.948+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||9/13|XM_047441200.1:c.945+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||8/13|XM_047441201.1:c.777+175del|||||||rs34395867||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||T|T|||18|chr22:g.29292781del|benign||1||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441202.1|protein_coding||||||||||rs34395867|3973|1||EntrezGene|HGNC:3508|||XP_047297158.1||||||RefSeq||T|T||||chr22:g.29292781del|benign||1||||||||||;SpliceAI=C|EWSR1|0.02|0.00|0.00|0.00|23|48|-38|-28;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000437155,ENST00000455726,ENST00000469669,ENST00000479135,ENST00000483415,ENST00000483629,ENST00000610553,ENST00000629659,ENST00000780180,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1,XM_047441202.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000301612,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=51473;gnomADv4_1_AC_joint_XX=27301;gnomADv4_1_AC_joint_XY=24172;gnomADv4_1_AF_grpmax_joint=0.604844;gnomADv4_1_AF_joint=0.511182;gnomADv4_1_AF_joint_XX=0.507812;gnomADv4_1_AF_joint_XY=0.515043;gnomADv4_1_AN_grpmax_joint=3262;gnomADv4_1_AN_joint=100694;gnomADv4_1_AN_joint_XX=53762;gnomADv4_1_AN_joint_XY=46932;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9386;gnomADv4_1_nhomalt_joint_XX=4785;gnomADv4_1_nhomalt_joint_XY=4601;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29293848 chr22_29293848_A_G A G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.526;CADD_Rawscore=0.092621;CSQ=G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||9/14|ENST00000331029.11:c.1050+1242A>G|||||||rs140064||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||A|A||1||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||10/15|ENST00000332035.10:c.996+1242A>G|||||||rs140064||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||A|A||1||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||11/16|ENST00000332050.10:c.1056+1242A>G|||||||rs140064||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||A|A||1||chr22:g.29293848A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||||||||||rs140064|3164|1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||A|A||1||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||2/7|ENST00000360091.3:c.130+1242A>G|||||||rs140064||1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||A|A||1||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||11/16|ENST00000397938.7:c.1164+1242A>G|||||||rs140064||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||A|A||1||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||11/16|ENST00000406548.5:c.1161+1242A>G|||||||rs140064||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||A|A||1||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||12/17|ENST00000414183.6:c.1179+1242A>G|||||||rs140064||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||A|A||1||chr22:g.29293848A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||2/7|ENST00000469669.5:n.1459+1242A>G|||||||rs140064||1||HGNC|HGNC:3508|2||||||||Ensembl||A|A||1||chr22:g.29293848A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||6/11|ENST00000479135.5:n.6114+1242A>G|||||||rs140064||1||HGNC|HGNC:3508|1||||||||Ensembl||A|A||1||chr22:g.29293848A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||||||||||rs140064|2829|1||HGNC|HGNC:3508|1||||||||Ensembl||A|A||1||chr22:g.29293848A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||2/6|ENST00000483629.5:n.360+1242A>G|||||||rs140064||1||HGNC|HGNC:3508|5||||||||Ensembl||A|A||1||chr22:g.29293848A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||||||||||rs140064|1678|1||HGNC|HGNC:3508|2||||||||Ensembl||A|A||1||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||9/14|ENST00000629659.2:c.948+1242A>G|||||||rs140064||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||A|A||1||chr22:g.29293848A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||||||||||rs140064|2680|-1||||||||||||Ensembl||A|A||||chr22:g.29293848A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs140064|4797|-1||||||||||||Ensembl||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||11/16|NM_001163285.2:c.1161+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||10/15|NM_001163286.2:c.996+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||||||||||rs140064|3164|1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||11/16|NM_005243.4:c.1164+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||12/17|NM_013986.4:c.1179+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||11/16|XM_005261389.5:c.1164+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||10/15|XM_005261390.5:c.996+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||11/16|XM_011529995.4:c.1167+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||11/16|XM_011529996.4:c.1164+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||11/16|XM_011529997.3:c.1167+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||11/16|XM_011529998.3:c.1164+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||11/16|XM_011529999.4:c.1167+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||11/16|XM_011530000.3:c.1167+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||10/15|XM_011530001.3:c.999+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||9/14|XM_011530002.4:c.948+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||11/16|XM_017028644.3:c.1161+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||11/16|XM_017028645.3:c.1164+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||11/16|XM_017028646.3:c.1164+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||11/16|XM_017028647.3:c.1161+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||11/16|XM_017028648.3:c.1161+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||11/15|XM_017028649.3:c.1167+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||11/15|XM_017028650.3:c.1167+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||11/15|XM_017028651.3:c.1164+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||11/15|XM_017028652.3:c.1164+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||11/15|XM_017028653.3:c.1161+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||10/15|XM_017028654.2:c.996+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||10/15|XM_017028655.2:c.993+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||11/15|XM_017028656.3:c.1164+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||10/15|XM_017028658.2:c.996+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||10/15|XM_017028659.2:c.993+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||11/15|XM_017028660.3:c.1161+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||10/15|XM_017028662.3:c.993+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||10/14|XM_017028663.2:c.993+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||9/14|XM_024452180.2:c.948+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||9/14|XM_024452181.2:c.945+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||11/16|XM_047441186.1:c.1164+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||11/16|XM_047441187.1:c.1164+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||11/15|XM_047441188.1:c.1164+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||11/15|XM_047441189.1:c.1161+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||11/15|XM_047441190.1:c.1167+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||10/15|XM_047441191.1:c.999+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||11/15|XM_047441192.1:c.1167+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||9/14|XM_047441193.1:c.945+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||10/15|XM_047441194.1:c.996+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||9/14|XM_047441195.1:c.948+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||9/14|XM_047441196.1:c.945+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||10/15|XM_047441197.1:c.996+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||9/14|XM_047441198.1:c.945+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||9/13|XM_047441199.1:c.948+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||9/13|XM_047441200.1:c.945+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||8/13|XM_047441201.1:c.777+1242A>G|||||||rs140064||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||A|A||||chr22:g.29293848A>G|||||||||||||;SpliceAI=G|EWSR1|0.00|0.00|0.00|0.00|-2|-16|-1|-43;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000469669,ENST00000479135,ENST00000483415,ENST00000483629,ENST00000610553,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,.,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=127425;gnomADv4_1_AC_joint_XX=64854;gnomADv4_1_AC_joint_XY=62571;gnomADv4_1_AF_grpmax_joint=0.959156;gnomADv4_1_AF_joint=0.837518;gnomADv4_1_AF_joint_XX=0.833963;gnomADv4_1_AF_joint_XY=0.841234;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=53596;gnomADv4_1_nhomalt_joint_XX=27110;gnomADv4_1_nhomalt_joint_XY=26486;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29293879 chr22_29293879_G_A G A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.25;CADD_Rawscore=0.040201;CSQ=A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||9/14|ENST00000331029.11:c.1050+1273G>A|||||||rs174758||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||G|G||1||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||10/15|ENST00000332035.10:c.996+1273G>A|||||||rs174758||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||G|G||1||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||11/16|ENST00000332050.10:c.1056+1273G>A|||||||rs174758||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||G|G||1||chr22:g.29293879G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||||||||||rs174758|3195|1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||G|G||1||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||2/7|ENST00000360091.3:c.130+1273G>A|||||||rs174758||1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||G|G||1||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||11/16|ENST00000397938.7:c.1164+1273G>A|||||||rs174758||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||G|G||1||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||11/16|ENST00000406548.5:c.1161+1273G>A|||||||rs174758||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||G|G||1||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||12/17|ENST00000414183.6:c.1179+1273G>A|||||||rs174758||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||G|G||1||chr22:g.29293879G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||2/7|ENST00000469669.5:n.1459+1273G>A|||||||rs174758||1||HGNC|HGNC:3508|2||||||||Ensembl||G|G||1||chr22:g.29293879G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||6/11|ENST00000479135.5:n.6114+1273G>A|||||||rs174758||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29293879G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||||||||||rs174758|2860|1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29293879G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||2/6|ENST00000483629.5:n.360+1273G>A|||||||rs174758||1||HGNC|HGNC:3508|5||||||||Ensembl||G|G||1||chr22:g.29293879G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||||||||||rs174758|1647|1||HGNC|HGNC:3508|2||||||||Ensembl||G|G||1||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||9/14|ENST00000629659.2:c.948+1273G>A|||||||rs174758||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||G|G||1||chr22:g.29293879G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||||||||||rs174758|2649|-1||||||||||||Ensembl||G|G||||chr22:g.29293879G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs174758|4766|-1||||||||||||Ensembl||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||11/16|NM_001163285.2:c.1161+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||10/15|NM_001163286.2:c.996+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||||||||||rs174758|3195|1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||11/16|NM_005243.4:c.1164+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||12/17|NM_013986.4:c.1179+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||11/16|XM_005261389.5:c.1164+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||10/15|XM_005261390.5:c.996+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||11/16|XM_011529995.4:c.1167+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||11/16|XM_011529996.4:c.1164+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||11/16|XM_011529997.3:c.1167+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||11/16|XM_011529998.3:c.1164+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||11/16|XM_011529999.4:c.1167+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||11/16|XM_011530000.3:c.1167+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||10/15|XM_011530001.3:c.999+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||9/14|XM_011530002.4:c.948+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||11/16|XM_017028644.3:c.1161+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||11/16|XM_017028645.3:c.1164+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||11/16|XM_017028646.3:c.1164+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||11/16|XM_017028647.3:c.1161+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||11/16|XM_017028648.3:c.1161+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||11/15|XM_017028649.3:c.1167+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||11/15|XM_017028650.3:c.1167+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||11/15|XM_017028651.3:c.1164+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||11/15|XM_017028652.3:c.1164+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||11/15|XM_017028653.3:c.1161+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||10/15|XM_017028654.2:c.996+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||10/15|XM_017028655.2:c.993+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||11/15|XM_017028656.3:c.1164+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||10/15|XM_017028658.2:c.996+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||10/15|XM_017028659.2:c.993+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||11/15|XM_017028660.3:c.1161+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||10/15|XM_017028662.3:c.993+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||10/14|XM_017028663.2:c.993+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||9/14|XM_024452180.2:c.948+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||9/14|XM_024452181.2:c.945+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||11/16|XM_047441186.1:c.1164+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||11/16|XM_047441187.1:c.1164+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||11/15|XM_047441188.1:c.1164+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||11/15|XM_047441189.1:c.1161+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||11/15|XM_047441190.1:c.1167+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||10/15|XM_047441191.1:c.999+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||11/15|XM_047441192.1:c.1167+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||9/14|XM_047441193.1:c.945+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||10/15|XM_047441194.1:c.996+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||9/14|XM_047441195.1:c.948+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||9/14|XM_047441196.1:c.945+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||10/15|XM_047441197.1:c.996+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||9/14|XM_047441198.1:c.945+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||9/13|XM_047441199.1:c.948+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||9/13|XM_047441200.1:c.945+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||8/13|XM_047441201.1:c.777+1273G>A|||||||rs174758||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||G|G||||chr22:g.29293879G>A|||||||||||||;SpliceAI=A|EWSR1|0.02|0.00|0.00|0.00|25|41|25|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000469669,ENST00000479135,ENST00000483415,ENST00000483629,ENST00000610553,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,.,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152304;gnomADv4_1_AC_joint_XX=77836;gnomADv4_1_AC_joint_XY=74468;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999934;gnomADv4_1_AF_joint_XX=0.999897;gnomADv4_1_AF_joint_XY=0.999973;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152314;gnomADv4_1_AN_joint_XX=77844;gnomADv4_1_AN_joint_XY=74470;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=76147;gnomADv4_1_nhomalt_joint_XX=38914;gnomADv4_1_nhomalt_joint_XY=37233;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29294257 chr22_29294257_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.83;CADD_Rawscore=-0.065614;CSQ=A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||9/14|ENST00000331029.11:c.1050+1651G>A|||||||rs73156524||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||G|G||1||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||10/15|ENST00000332035.10:c.996+1651G>A|||||||rs73156524||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||G|G||1||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||11/16|ENST00000332050.10:c.1056+1651G>A|||||||rs73156524||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||G|G||1||chr22:g.29294257G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||||||||||rs73156524|3573|1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||G|G||1||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||2/7|ENST00000360091.3:c.130+1651G>A|||||||rs73156524||1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||G|G||1||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||11/16|ENST00000397938.7:c.1164+1651G>A|||||||rs73156524||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||G|G||1||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||11/16|ENST00000406548.5:c.1161+1651G>A|||||||rs73156524||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||G|G||1||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||12/17|ENST00000414183.6:c.1179+1651G>A|||||||rs73156524||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||G|G||1||chr22:g.29294257G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||2/7|ENST00000469669.5:n.1459+1651G>A|||||||rs73156524||1||HGNC|HGNC:3508|2||||||||Ensembl||G|G||1||chr22:g.29294257G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||6/11|ENST00000479135.5:n.6114+1651G>A|||||||rs73156524||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29294257G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||||||||||rs73156524|3238|1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29294257G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||2/6|ENST00000483629.5:n.360+1651G>A|||||||rs73156524||1||HGNC|HGNC:3508|5||||||||Ensembl||G|G||1||chr22:g.29294257G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||||||||||rs73156524|1269|1||HGNC|HGNC:3508|2||||||||Ensembl||G|G||1||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||9/14|ENST00000629659.2:c.948+1651G>A|||||||rs73156524||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||G|G||1||chr22:g.29294257G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||||||||||rs73156524|2271|-1||||||||||||Ensembl||G|G||||chr22:g.29294257G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs73156524|4388|-1||||||||||||Ensembl||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||11/16|NM_001163285.2:c.1161+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||10/15|NM_001163286.2:c.996+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||||||||||rs73156524|3573|1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||11/16|NM_005243.4:c.1164+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||12/17|NM_013986.4:c.1179+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||11/16|XM_005261389.5:c.1164+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||10/15|XM_005261390.5:c.996+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||11/16|XM_011529995.4:c.1167+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||11/16|XM_011529996.4:c.1164+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||11/16|XM_011529997.3:c.1167+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||11/16|XM_011529998.3:c.1164+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||11/16|XM_011529999.4:c.1167+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||11/16|XM_011530000.3:c.1167+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||10/15|XM_011530001.3:c.999+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||9/14|XM_011530002.4:c.948+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||11/16|XM_017028644.3:c.1161+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||11/16|XM_017028645.3:c.1164+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||11/16|XM_017028646.3:c.1164+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||11/16|XM_017028647.3:c.1161+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||11/16|XM_017028648.3:c.1161+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||11/15|XM_017028649.3:c.1167+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||11/15|XM_017028650.3:c.1167+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||11/15|XM_017028651.3:c.1164+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||11/15|XM_017028652.3:c.1164+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||11/15|XM_017028653.3:c.1161+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||10/15|XM_017028654.2:c.996+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||10/15|XM_017028655.2:c.993+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||11/15|XM_017028656.3:c.1164+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||10/15|XM_017028658.2:c.996+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||10/15|XM_017028659.2:c.993+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||11/15|XM_017028660.3:c.1161+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||10/15|XM_017028662.3:c.993+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||10/14|XM_017028663.2:c.993+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||9/14|XM_024452180.2:c.948+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||9/14|XM_024452181.2:c.945+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||11/16|XM_047441186.1:c.1164+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||11/16|XM_047441187.1:c.1164+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||11/15|XM_047441188.1:c.1164+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||11/15|XM_047441189.1:c.1161+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||11/15|XM_047441190.1:c.1167+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||10/15|XM_047441191.1:c.999+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||11/15|XM_047441192.1:c.1167+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||9/14|XM_047441193.1:c.945+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||10/15|XM_047441194.1:c.996+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||9/14|XM_047441195.1:c.948+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||9/14|XM_047441196.1:c.945+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||10/15|XM_047441197.1:c.996+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||9/14|XM_047441198.1:c.945+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||9/13|XM_047441199.1:c.948+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||9/13|XM_047441200.1:c.945+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||8/13|XM_047441201.1:c.777+1651G>A|||||||rs73156524||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||G|G||||chr22:g.29294257G>A|||||||||||||;SpliceAI=A|EWSR1|0.00|0.00|0.00|0.00|2|-23|-24|34;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000469669,ENST00000479135,ENST00000483415,ENST00000483629,ENST00000610553,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,.,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13927;gnomADv4_1_AC_joint_XX=7185;gnomADv4_1_AC_joint_XY=6742;gnomADv4_1_AF_grpmax_joint=0.280247;gnomADv4_1_AF_joint=0.091501;gnomADv4_1_AF_joint_XX=0.0923593;gnomADv4_1_AF_joint_XY=0.0906037;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152206;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=753;gnomADv4_1_nhomalt_joint_XX=383;gnomADv4_1_nhomalt_joint_XY=370;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29294356 chr22_29294356_T_C T C 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.876;CADD_Rawscore=-0.051845;CSQ=C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||9/14|ENST00000331029.11:c.1050+1750T>C|||||||rs131189||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||T|T||1||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||10/15|ENST00000332035.10:c.996+1750T>C|||||||rs131189||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||T|T||1||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||11/16|ENST00000332050.10:c.1056+1750T>C|||||||rs131189||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||T|T||1||chr22:g.29294356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||||||||||rs131189|3672|1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||T|T||1||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||2/7|ENST00000360091.3:c.130+1750T>C|||||||rs131189||1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||T|T||1||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||11/16|ENST00000397938.7:c.1164+1750T>C|||||||rs131189||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||T|T||1||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||11/16|ENST00000406548.5:c.1161+1750T>C|||||||rs131189||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||T|T||1||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||12/17|ENST00000414183.6:c.1179+1750T>C|||||||rs131189||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||T|T||1||chr22:g.29294356T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||2/7|ENST00000469669.5:n.1459+1750T>C|||||||rs131189||1||HGNC|HGNC:3508|2||||||||Ensembl||T|T||1||chr22:g.29294356T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||6/11|ENST00000479135.5:n.6114+1750T>C|||||||rs131189||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29294356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||||||||||rs131189|3337|1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29294356T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||2/6|ENST00000483629.5:n.360+1750T>C|||||||rs131189||1||HGNC|HGNC:3508|5||||||||Ensembl||T|T||1||chr22:g.29294356T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||||||||||rs131189|1170|1||HGNC|HGNC:3508|2||||||||Ensembl||T|T||1||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||9/14|ENST00000629659.2:c.948+1750T>C|||||||rs131189||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||T|T||1||chr22:g.29294356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||||||||||rs131189|2172|-1||||||||||||Ensembl||T|T||||chr22:g.29294356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs131189|4289|-1||||||||||||Ensembl||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||11/16|NM_001163285.2:c.1161+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||10/15|NM_001163286.2:c.996+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||||||||||rs131189|3672|1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||11/16|NM_005243.4:c.1164+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||12/17|NM_013986.4:c.1179+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||11/16|XM_005261389.5:c.1164+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||10/15|XM_005261390.5:c.996+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||11/16|XM_011529995.4:c.1167+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||11/16|XM_011529996.4:c.1164+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||11/16|XM_011529997.3:c.1167+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||11/16|XM_011529998.3:c.1164+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||11/16|XM_011529999.4:c.1167+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||11/16|XM_011530000.3:c.1167+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||10/15|XM_011530001.3:c.999+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||9/14|XM_011530002.4:c.948+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||11/16|XM_017028644.3:c.1161+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||11/16|XM_017028645.3:c.1164+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||11/16|XM_017028646.3:c.1164+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||11/16|XM_017028647.3:c.1161+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||11/16|XM_017028648.3:c.1161+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||11/15|XM_017028649.3:c.1167+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||11/15|XM_017028650.3:c.1167+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||11/15|XM_017028651.3:c.1164+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||11/15|XM_017028652.3:c.1164+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||11/15|XM_017028653.3:c.1161+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||10/15|XM_017028654.2:c.996+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||10/15|XM_017028655.2:c.993+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||11/15|XM_017028656.3:c.1164+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||10/15|XM_017028658.2:c.996+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||10/15|XM_017028659.2:c.993+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||11/15|XM_017028660.3:c.1161+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||10/15|XM_017028662.3:c.993+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||10/14|XM_017028663.2:c.993+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||9/14|XM_024452180.2:c.948+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||9/14|XM_024452181.2:c.945+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||11/16|XM_047441186.1:c.1164+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||11/16|XM_047441187.1:c.1164+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||11/15|XM_047441188.1:c.1164+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||11/15|XM_047441189.1:c.1161+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||11/15|XM_047441190.1:c.1167+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||10/15|XM_047441191.1:c.999+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||11/15|XM_047441192.1:c.1167+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||9/14|XM_047441193.1:c.945+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||10/15|XM_047441194.1:c.996+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||9/14|XM_047441195.1:c.948+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||9/14|XM_047441196.1:c.945+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||10/15|XM_047441197.1:c.996+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||9/14|XM_047441198.1:c.945+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||9/13|XM_047441199.1:c.948+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||9/13|XM_047441200.1:c.945+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||8/13|XM_047441201.1:c.777+1750T>C|||||||rs131189||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||T|T||||chr22:g.29294356T>C|||||||||||||;SpliceAI=C|EWSR1|0.00|0.00|0.00|0.00|-46|3|35|-21;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000469669,ENST00000479135,ENST00000483415,ENST00000483629,ENST00000610553,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,.,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=104099;gnomADv4_1_AC_joint_XX=53628;gnomADv4_1_AC_joint_XY=50471;gnomADv4_1_AF_grpmax_joint=0.918733;gnomADv4_1_AF_joint=0.686687;gnomADv4_1_AF_joint_XX=0.691814;gnomADv4_1_AF_joint_XY=0.681322;gnomADv4_1_AN_grpmax_joint=41456;gnomADv4_1_AN_joint=151596;gnomADv4_1_AN_joint_XX=77518;gnomADv4_1_AN_joint_XY=74078;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=37361;gnomADv4_1_nhomalt_joint_XX=19370;gnomADv4_1_nhomalt_joint_XY=17991;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29294712 chr22_29294712_G_A G A 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=1.364;CADD_Rawscore=0.063237;CSQ=A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||9/14|ENST00000331029.11:c.1051-1527G>A|||||||rs953829128||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||G|G||1||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||10/15|ENST00000332035.10:c.997-1527G>A|||||||rs953829128||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||G|G||1||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||11/16|ENST00000332050.10:c.1057-1527G>A|||||||rs953829128||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||G|G||1||chr22:g.29294712G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||||||||||rs953829128|4028|1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||G|G||1||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||2/7|ENST00000360091.3:c.131-1527G>A|||||||rs953829128||1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||G|G||1||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||11/16|ENST00000397938.7:c.1165-1527G>A|||||||rs953829128||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||G|G||1||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||11/16|ENST00000406548.5:c.1162-1527G>A|||||||rs953829128||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||G|G||1||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||12/17|ENST00000414183.6:c.1180-1527G>A|||||||rs953829128||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||G|G||1||chr22:g.29294712G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||2/7|ENST00000469669.5:n.1460-1527G>A|||||||rs953829128||1||HGNC|HGNC:3508|2||||||||Ensembl||G|G||1||chr22:g.29294712G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||6/11|ENST00000479135.5:n.6115-1527G>A|||||||rs953829128||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29294712G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||||||||||rs953829128|3693|1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29294712G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||2/6|ENST00000483629.5:n.361-1527G>A|||||||rs953829128||1||HGNC|HGNC:3508|5||||||||Ensembl||G|G||1||chr22:g.29294712G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||||||||||rs953829128|814|1||HGNC|HGNC:3508|2||||||||Ensembl||G|G||1||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||9/14|ENST00000629659.2:c.949-1527G>A|||||||rs953829128||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||G|G||1||chr22:g.29294712G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||||||||||rs953829128|1816|-1||||||||||||Ensembl||G|G||||chr22:g.29294712G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs953829128|3933|-1||||||||||||Ensembl||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||11/16|NM_001163285.2:c.1162-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||10/15|NM_001163286.2:c.997-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||||||||||rs953829128|4028|1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||11/16|NM_005243.4:c.1165-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||12/17|NM_013986.4:c.1180-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||11/16|XM_005261389.5:c.1165-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||10/15|XM_005261390.5:c.997-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||11/16|XM_011529995.4:c.1168-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||11/16|XM_011529996.4:c.1165-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||11/16|XM_011529997.3:c.1168-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||11/16|XM_011529998.3:c.1165-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||11/16|XM_011529999.4:c.1168-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||11/16|XM_011530000.3:c.1168-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||10/15|XM_011530001.3:c.1000-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||9/14|XM_011530002.4:c.949-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||11/16|XM_017028644.3:c.1162-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||11/16|XM_017028645.3:c.1165-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||11/16|XM_017028646.3:c.1165-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||11/16|XM_017028647.3:c.1162-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||11/16|XM_017028648.3:c.1162-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||11/15|XM_017028649.3:c.1168-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||11/15|XM_017028650.3:c.1168-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||11/15|XM_017028651.3:c.1165-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||11/15|XM_017028652.3:c.1165-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||11/15|XM_017028653.3:c.1162-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||10/15|XM_017028654.2:c.997-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||10/15|XM_017028655.2:c.994-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||11/15|XM_017028656.3:c.1165-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||10/15|XM_017028658.2:c.997-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||10/15|XM_017028659.2:c.994-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||11/15|XM_017028660.3:c.1162-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||10/15|XM_017028662.3:c.994-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||10/14|XM_017028663.2:c.994-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||9/14|XM_024452180.2:c.949-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||9/14|XM_024452181.2:c.946-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||11/16|XM_047441186.1:c.1165-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||11/16|XM_047441187.1:c.1165-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||11/15|XM_047441188.1:c.1165-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||11/15|XM_047441189.1:c.1162-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||11/15|XM_047441190.1:c.1168-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||10/15|XM_047441191.1:c.1000-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||11/15|XM_047441192.1:c.1168-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||9/14|XM_047441193.1:c.946-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||10/15|XM_047441194.1:c.997-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||9/14|XM_047441195.1:c.949-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||9/14|XM_047441196.1:c.946-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||10/15|XM_047441197.1:c.997-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||9/14|XM_047441198.1:c.946-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||9/13|XM_047441199.1:c.949-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||9/13|XM_047441200.1:c.946-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||8/13|XM_047441201.1:c.778-1527G>A|||||||rs953829128||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||G|G||||chr22:g.29294712G>A|||||||||||||;SpliceAI=A|EWSR1|0.00|0.00|0.00|0.00|-27|50|20|-28;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000469669,ENST00000479135,ENST00000483415,ENST00000483629,ENST00000610553,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,.,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4;gnomADv4_1_AC_joint_XX=1;gnomADv4_1_AC_joint_XY=3;gnomADv4_1_AF_grpmax_joint=0.000193424;gnomADv4_1_AF_joint=2.63428e-05;gnomADv4_1_AF_joint_XX=1.2873e-05;gnomADv4_1_AF_joint_XY=4.0452e-05;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=151844;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74162;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29295393 chr22_29295393_A_T A T 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=11.91;CADD_Rawscore=1.16268;CSQ=T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||9/14|ENST00000331029.11:c.1051-846A>T|||||||rs174759||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||A|A||1||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||10/15|ENST00000332035.10:c.997-846A>T|||||||rs174759||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||A|A||1||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||11/16|ENST00000332050.10:c.1057-846A>T|||||||rs174759||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||A|A||1||chr22:g.29295393A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000333395|protein_coding||||||||||rs174759|4709|1||HGNC|HGNC:3508|1|CCDS54512.1|ENSP00000327456|Q01844.245||UPI00000709CB|Q01844-4||Ensembl||A|A||1||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||2/7|ENST00000360091.3:c.131-846A>T|||||||rs174759||1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||A|A||1||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||11/16|ENST00000397938.7:c.1165-846A>T|||||||rs174759||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||A|A||1||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||11/16|ENST00000406548.5:c.1162-846A>T|||||||rs174759||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||A|A||1||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||12/17|ENST00000414183.6:c.1180-846A>T|||||||rs174759||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||A|A||1||chr22:g.29295393A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||2/7|ENST00000469669.5:n.1460-846A>T|||||||rs174759||1||HGNC|HGNC:3508|2||||||||Ensembl||A|A||1||chr22:g.29295393A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||6/11|ENST00000479135.5:n.6115-846A>T|||||||rs174759||1||HGNC|HGNC:3508|1||||||||Ensembl||A|A||1||chr22:g.29295393A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483415|retained_intron||||||||||rs174759|4374|1||HGNC|HGNC:3508|1||||||||Ensembl||A|A||1||chr22:g.29295393A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||2/6|ENST00000483629.5:n.361-846A>T|||||||rs174759||1||HGNC|HGNC:3508|5||||||||Ensembl||A|A||1||chr22:g.29295393A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||||||||||rs174759|133|1||HGNC|HGNC:3508|2||||||||Ensembl||A|A||1||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||9/14|ENST00000629659.2:c.949-846A>T|||||||rs174759||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||A|A||1||chr22:g.29295393A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||||||||||rs174759|1135|-1||||||||||||Ensembl||A|A||||chr22:g.29295393A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs174759|3252|-1||||||||||||Ensembl||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||11/16|NM_001163285.2:c.1162-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||10/15|NM_001163286.2:c.997-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163287.2|protein_coding||||||||||rs174759|4709|1||EntrezGene|HGNC:3508|||NP_001156759.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||11/16|NM_005243.4:c.1165-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||12/17|NM_013986.4:c.1180-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||11/16|XM_005261389.5:c.1165-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||10/15|XM_005261390.5:c.997-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||11/16|XM_011529995.4:c.1168-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||11/16|XM_011529996.4:c.1165-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||11/16|XM_011529997.3:c.1168-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||11/16|XM_011529998.3:c.1165-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||11/16|XM_011529999.4:c.1168-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||11/16|XM_011530000.3:c.1168-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||10/15|XM_011530001.3:c.1000-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||9/14|XM_011530002.4:c.949-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||11/16|XM_017028644.3:c.1162-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||11/16|XM_017028645.3:c.1165-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||11/16|XM_017028646.3:c.1165-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||11/16|XM_017028647.3:c.1162-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||11/16|XM_017028648.3:c.1162-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||11/15|XM_017028649.3:c.1168-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||11/15|XM_017028650.3:c.1168-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||11/15|XM_017028651.3:c.1165-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||11/15|XM_017028652.3:c.1165-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||11/15|XM_017028653.3:c.1162-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||10/15|XM_017028654.2:c.997-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||10/15|XM_017028655.2:c.994-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||11/15|XM_017028656.3:c.1165-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||10/15|XM_017028658.2:c.997-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||10/15|XM_017028659.2:c.994-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||11/15|XM_017028660.3:c.1162-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||10/15|XM_017028662.3:c.994-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||10/14|XM_017028663.2:c.994-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||9/14|XM_024452180.2:c.949-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||9/14|XM_024452181.2:c.946-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||11/16|XM_047441186.1:c.1165-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||11/16|XM_047441187.1:c.1165-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||11/15|XM_047441188.1:c.1165-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||11/15|XM_047441189.1:c.1162-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||11/15|XM_047441190.1:c.1168-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||10/15|XM_047441191.1:c.1000-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||11/15|XM_047441192.1:c.1168-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||9/14|XM_047441193.1:c.946-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||10/15|XM_047441194.1:c.997-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||9/14|XM_047441195.1:c.949-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||9/14|XM_047441196.1:c.946-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||10/15|XM_047441197.1:c.997-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||9/14|XM_047441198.1:c.946-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||9/13|XM_047441199.1:c.949-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||9/13|XM_047441200.1:c.946-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||8/13|XM_047441201.1:c.778-846A>T|||||||rs174759||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||A|A||||chr22:g.29295393A>T|||||||||||||;SpliceAI=T|EWSR1|0.00|0.00|0.00|0.00|-5|-22|-6|47;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000333395,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000469669,ENST00000479135,ENST00000483415,ENST00000483629,ENST00000610553,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_001163287.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,.,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=120216;gnomADv4_1_AC_joint_XX=62469;gnomADv4_1_AC_joint_XY=57747;gnomADv4_1_AF_grpmax_joint=0.704523;gnomADv4_1_AF_joint=0.569054;gnomADv4_1_AF_joint_XX=0.569962;gnomADv4_1_AF_joint_XY=0.568074;gnomADv4_1_AN_grpmax_joint=14018;gnomADv4_1_AN_joint=211256;gnomADv4_1_AN_joint_XX=109602;gnomADv4_1_AN_joint_XY=101654;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34414;gnomADv4_1_nhomalt_joint_XX=17910;gnomADv4_1_nhomalt_joint_XY=16504;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29296498 chr22_29296498_G_T G T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=3.941;CADD_Rawscore=0.359975;CSQ=T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||10/14|ENST00000331029.11:c.1180+130G>T|||||||rs140065||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||G|G||1||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||11/15|ENST00000332035.10:c.1126+130G>T|||||||rs140065||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||G|G||1||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||12/16|ENST00000332050.10:c.1186+130G>T|||||||rs140065||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||G|G||1||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||3/7|ENST00000360091.3:c.260+130G>T|||||||rs140065||1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||G|G||1||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||12/16|ENST00000397938.7:c.1294+130G>T|||||||rs140065||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||G|G||1||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||12/16|ENST00000406548.5:c.1291+130G>T|||||||rs140065||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||G|G||1||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||13/17|ENST00000414183.6:c.1309+130G>T|||||||rs140065||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||G|G||1||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||3/7|ENST00000469669.5:n.1589+130G>T|||||||rs140065||1||HGNC|HGNC:3508|2||||||||Ensembl||G|G||1||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||7/11|ENST00000479135.5:n.6244+130G>T|||||||rs140065||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||3/6|ENST00000483629.5:n.490+130G>T|||||||rs140065||1||HGNC|HGNC:3508|5||||||||Ensembl||G|G||1||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||1/3|ENST00000610553.1:n.843+130G>T|||||||rs140065||1||HGNC|HGNC:3508|2||||||||Ensembl||G|G||1||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||10/14|ENST00000629659.2:c.1078+130G>T|||||||rs140065||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||G|G||1||chr22:g.29296498G>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||||||||||rs140065|30|-1||||||||||||Ensembl||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs140065|2147|-1||||||||||||Ensembl||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||12/16|NM_001163285.2:c.1291+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||11/15|NM_001163286.2:c.1126+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||12/16|NM_005243.4:c.1294+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||13/17|NM_013986.4:c.1309+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||12/16|XM_005261389.5:c.1294+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||11/15|XM_005261390.5:c.1126+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||12/16|XM_011529995.4:c.1297+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||12/16|XM_011529996.4:c.1294+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||12/16|XM_011529997.3:c.1297+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||12/16|XM_011529998.3:c.1294+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||12/16|XM_011529999.4:c.1297+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||12/16|XM_011530000.3:c.1297+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||11/15|XM_011530001.3:c.1129+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||10/14|XM_011530002.4:c.1078+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||12/16|XM_017028644.3:c.1291+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||12/16|XM_017028645.3:c.1294+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||12/16|XM_017028646.3:c.1294+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||12/16|XM_017028647.3:c.1291+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||12/16|XM_017028648.3:c.1291+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||12/15|XM_017028649.3:c.1297+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||12/15|XM_017028650.3:c.1297+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||12/15|XM_017028651.3:c.1294+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||12/15|XM_017028652.3:c.1294+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||12/15|XM_017028653.3:c.1291+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||11/15|XM_017028654.2:c.1126+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||11/15|XM_017028655.2:c.1123+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||12/15|XM_017028656.3:c.1294+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||11/15|XM_017028658.2:c.1126+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||11/15|XM_017028659.2:c.1123+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||12/15|XM_017028660.3:c.1291+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||11/15|XM_017028662.3:c.1123+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||11/14|XM_017028663.2:c.1123+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||10/14|XM_024452180.2:c.1078+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||10/14|XM_024452181.2:c.1075+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||12/16|XM_047441186.1:c.1294+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||12/16|XM_047441187.1:c.1294+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||12/15|XM_047441188.1:c.1294+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||12/15|XM_047441189.1:c.1291+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||12/15|XM_047441190.1:c.1297+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||11/15|XM_047441191.1:c.1129+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||12/15|XM_047441192.1:c.1297+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||10/14|XM_047441193.1:c.1075+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||11/15|XM_047441194.1:c.1126+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||10/14|XM_047441195.1:c.1078+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||10/14|XM_047441196.1:c.1075+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||11/15|XM_047441197.1:c.1126+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||10/14|XM_047441198.1:c.1075+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||10/13|XM_047441199.1:c.1078+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||10/13|XM_047441200.1:c.1075+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||9/13|XM_047441201.1:c.907+130G>T|||||||rs140065||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||G|G||||chr22:g.29296498G>T|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29296498G>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=EWSR1:2130;ClinVar_Variation_ID=1280487;SpliceAI=T|EWSR1|0.00|0.00|0.00|0.00|-20|-15|-20|4;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000469669,ENST00000479135,ENST00000483629,ENST00000610553,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,.,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=840898;gnomADv4_1_AC_joint_XX=414527;gnomADv4_1_AC_joint_XY=426371;gnomADv4_1_AF_grpmax_joint=0.960263;gnomADv4_1_AF_joint=0.804413;gnomADv4_1_AF_joint_XX=0.801992;gnomADv4_1_AF_joint_XY=0.806781;gnomADv4_1_AN_grpmax_joint=41246;gnomADv4_1_AN_joint=1045356;gnomADv4_1_AN_joint_XX=516872;gnomADv4_1_AN_joint_XY=528484;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=340432;gnomADv4_1_nhomalt_joint_XX=167346;gnomADv4_1_nhomalt_joint_XY=173086;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29296507 chr22_29296507_G_T G T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.165;CADD_Rawscore=-0.478278;CSQ=T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||10/14|ENST00000331029.11:c.1180+139G>T|||||||rs131190||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||G|G||1||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||11/15|ENST00000332035.10:c.1126+139G>T|||||||rs131190||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||G|G||1||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||12/16|ENST00000332050.10:c.1186+139G>T|||||||rs131190||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||G|G||1||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||3/7|ENST00000360091.3:c.260+139G>T|||||||rs131190||1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||G|G||1||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||12/16|ENST00000397938.7:c.1294+139G>T|||||||rs131190||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||G|G||1||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||12/16|ENST00000406548.5:c.1291+139G>T|||||||rs131190||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||G|G||1||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||13/17|ENST00000414183.6:c.1309+139G>T|||||||rs131190||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||G|G||1||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||3/7|ENST00000469669.5:n.1589+139G>T|||||||rs131190||1||HGNC|HGNC:3508|2||||||||Ensembl||G|G||1||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||7/11|ENST00000479135.5:n.6244+139G>T|||||||rs131190||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||3/6|ENST00000483629.5:n.490+139G>T|||||||rs131190||1||HGNC|HGNC:3508|5||||||||Ensembl||G|G||1||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||1/3|ENST00000610553.1:n.843+139G>T|||||||rs131190||1||HGNC|HGNC:3508|2||||||||Ensembl||G|G||1||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||10/14|ENST00000629659.2:c.1078+139G>T|||||||rs131190||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||G|G||1||chr22:g.29296507G>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||||||||||rs131190|21|-1||||||||||||Ensembl||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs131190|2138|-1||||||||||||Ensembl||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||12/16|NM_001163285.2:c.1291+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||11/15|NM_001163286.2:c.1126+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||12/16|NM_005243.4:c.1294+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||13/17|NM_013986.4:c.1309+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||12/16|XM_005261389.5:c.1294+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||11/15|XM_005261390.5:c.1126+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||12/16|XM_011529995.4:c.1297+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||12/16|XM_011529996.4:c.1294+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||12/16|XM_011529997.3:c.1297+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||12/16|XM_011529998.3:c.1294+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||12/16|XM_011529999.4:c.1297+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||12/16|XM_011530000.3:c.1297+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||11/15|XM_011530001.3:c.1129+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||10/14|XM_011530002.4:c.1078+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||12/16|XM_017028644.3:c.1291+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||12/16|XM_017028645.3:c.1294+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||12/16|XM_017028646.3:c.1294+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||12/16|XM_017028647.3:c.1291+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||12/16|XM_017028648.3:c.1291+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||12/15|XM_017028649.3:c.1297+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||12/15|XM_017028650.3:c.1297+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||12/15|XM_017028651.3:c.1294+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||12/15|XM_017028652.3:c.1294+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||12/15|XM_017028653.3:c.1291+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||11/15|XM_017028654.2:c.1126+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||11/15|XM_017028655.2:c.1123+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||12/15|XM_017028656.3:c.1294+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||11/15|XM_017028658.2:c.1126+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||11/15|XM_017028659.2:c.1123+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||12/15|XM_017028660.3:c.1291+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||11/15|XM_017028662.3:c.1123+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||11/14|XM_017028663.2:c.1123+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||10/14|XM_024452180.2:c.1078+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||10/14|XM_024452181.2:c.1075+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||12/16|XM_047441186.1:c.1294+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||12/16|XM_047441187.1:c.1294+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||12/15|XM_047441188.1:c.1294+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||12/15|XM_047441189.1:c.1291+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||12/15|XM_047441190.1:c.1297+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||11/15|XM_047441191.1:c.1129+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||12/15|XM_047441192.1:c.1297+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||10/14|XM_047441193.1:c.1075+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||11/15|XM_047441194.1:c.1126+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||10/14|XM_047441195.1:c.1078+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||10/14|XM_047441196.1:c.1075+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||11/15|XM_047441197.1:c.1126+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||10/14|XM_047441198.1:c.1075+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||10/13|XM_047441199.1:c.1078+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||10/13|XM_047441200.1:c.1075+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||,T|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||9/13|XM_047441201.1:c.907+139G>T|||||||rs131190||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||G|G||||chr22:g.29296507G>T|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29296507G>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=EWSR1:2130;ClinVar_Variation_ID=1286715;SpliceAI=T|EWSR1|0.00|0.00|0.00|0.00|-29|-28|-29|-1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000469669,ENST00000479135,ENST00000483629,ENST00000610553,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,.,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=785289;gnomADv4_1_AC_joint_XX=386034;gnomADv4_1_AC_joint_XY=399255;gnomADv4_1_AF_grpmax_joint=0.959771;gnomADv4_1_AF_joint=0.876699;gnomADv4_1_AF_joint_XX=0.876561;gnomADv4_1_AF_joint_XY=0.876832;gnomADv4_1_AN_grpmax_joint=39648;gnomADv4_1_AN_joint=895734;gnomADv4_1_AN_joint_XX=440396;gnomADv4_1_AN_joint_XY=455338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=344803;gnomADv4_1_nhomalt_joint_XX=169566;gnomADv4_1_nhomalt_joint_XY=175237;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29297650 chr22_29297650_G_A G A 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.254;CADD_Rawscore=-0.364438;CSQ=A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||10/14|ENST00000331029.11:c.1181-177G>A|||||||rs5752900||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||G|G||1||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||11/15|ENST00000332035.10:c.1127-177G>A|||||||rs5752900||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||G|G||1||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||12/16|ENST00000332050.10:c.1187-177G>A|||||||rs5752900||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||G|G||1||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||3/7|ENST00000360091.3:c.261-177G>A|||||||rs5752900||1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||G|G||1||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||12/16|ENST00000397938.7:c.1295-177G>A|||||||rs5752900||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||G|G||1||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||12/16|ENST00000406548.5:c.1292-177G>A|||||||rs5752900||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||G|G||1||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||13/17|ENST00000414183.6:c.1310-177G>A|||||||rs5752900||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||G|G||1||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||3/7|ENST00000469669.5:n.1590-177G>A|||||||rs5752900||1||HGNC|HGNC:3508|2||||||||Ensembl||G|G||1||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||7/11|ENST00000479135.5:n.6245-177G>A|||||||rs5752900||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||3/6|ENST00000483629.5:n.491-177G>A|||||||rs5752900||1||HGNC|HGNC:3508|5||||||||Ensembl||G|G||1||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||1/3|ENST00000610553.1:n.844-177G>A|||||||rs5752900||1||HGNC|HGNC:3508|2||||||||Ensembl||G|G||1||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||10/14|ENST00000629659.2:c.1079-177G>A|||||||rs5752900||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||G|G||1||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||2/2|ENST00000780180.1:n.360-777C>T|||||||rs5752900||-1||||||||||||Ensembl||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs5752900|995|-1||||||||||||Ensembl||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||12/16|NM_001163285.2:c.1292-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||11/15|NM_001163286.2:c.1127-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||12/16|NM_005243.4:c.1295-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||13/17|NM_013986.4:c.1310-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||12/16|XM_005261389.5:c.1295-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||11/15|XM_005261390.5:c.1127-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||12/16|XM_011529995.4:c.1298-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||12/16|XM_011529996.4:c.1295-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||12/16|XM_011529997.3:c.1298-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||12/16|XM_011529998.3:c.1295-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||12/16|XM_011529999.4:c.1298-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||12/16|XM_011530000.3:c.1298-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||11/15|XM_011530001.3:c.1130-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||10/14|XM_011530002.4:c.1079-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||12/16|XM_017028644.3:c.1292-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||12/16|XM_017028645.3:c.1295-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||12/16|XM_017028646.3:c.1295-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||12/16|XM_017028647.3:c.1292-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||12/16|XM_017028648.3:c.1292-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||12/15|XM_017028649.3:c.1298-1083G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||12/15|XM_017028650.3:c.1298-1083G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||12/15|XM_017028651.3:c.1295-1083G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||12/15|XM_017028652.3:c.1295-1083G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||12/15|XM_017028653.3:c.1292-1083G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||11/15|XM_017028654.2:c.1127-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||11/15|XM_017028655.2:c.1124-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||12/15|XM_017028656.3:c.1295-1083G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||11/15|XM_017028658.2:c.1127-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||11/15|XM_017028659.2:c.1124-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||12/15|XM_017028660.3:c.1292-1083G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||11/15|XM_017028662.3:c.1124-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||11/14|XM_017028663.2:c.1124-1083G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||10/14|XM_024452180.2:c.1079-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||10/14|XM_024452181.2:c.1076-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||12/16|XM_047441186.1:c.1295-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||12/16|XM_047441187.1:c.1295-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||12/15|XM_047441188.1:c.1295-1083G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||12/15|XM_047441189.1:c.1292-1083G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||12/15|XM_047441190.1:c.1298-1083G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||11/15|XM_047441191.1:c.1130-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||12/15|XM_047441192.1:c.1298-1083G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||10/14|XM_047441193.1:c.1076-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||11/15|XM_047441194.1:c.1127-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||10/14|XM_047441195.1:c.1079-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||10/14|XM_047441196.1:c.1076-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||11/15|XM_047441197.1:c.1127-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||10/14|XM_047441198.1:c.1076-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||10/13|XM_047441199.1:c.1079-1083G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||10/13|XM_047441200.1:c.1076-1083G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||9/13|XM_047441201.1:c.908-177G>A|||||||rs5752900||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||G|G||||chr22:g.29297650G>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29297650G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=EWSR1:2130;ClinVar_Variation_ID=1224570;SpliceAI=A|EWSR1|0.00|0.00|0.00|0.00|-3|9|1|9;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000469669,ENST00000479135,ENST00000483629,ENST00000610553,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,.,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24878;gnomADv4_1_AC_joint_XX=12857;gnomADv4_1_AC_joint_XY=12021;gnomADv4_1_AF_grpmax_joint=0.28809;gnomADv4_1_AF_joint=0.163641;gnomADv4_1_AF_joint_XX=0.165414;gnomADv4_1_AF_joint_XY=0.161786;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2109;gnomADv4_1_nhomalt_joint_XX=1107;gnomADv4_1_nhomalt_joint_XY=1002;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29298000 chr22_29298000_A_G A G 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.852;CADD_Rawscore=-0.058963;CSQ=G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||11/14|ENST00000331029.11:c.1303+51A>G|||||||rs3747142||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||A|A||1||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||12/15|ENST00000332035.10:c.1249+51A>G|||||||rs3747142||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||A|A||1||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||13/16|ENST00000332050.10:c.1309+51A>G|||||||rs3747142||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||A|A||1||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||4/7|ENST00000360091.3:c.383+51A>G|||||||rs3747142||1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||A|A||1||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||13/16|ENST00000397938.7:c.1417+51A>G|||||||rs3747142||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||A|A||1||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||13/16|ENST00000406548.5:c.1414+51A>G|||||||rs3747142||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||A|A||1||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||14/17|ENST00000414183.6:c.1432+51A>G|||||||rs3747142||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||A|A||1||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||4/7|ENST00000469669.5:n.1712+51A>G|||||||rs3747142||1||HGNC|HGNC:3508|2||||||||Ensembl||A|A||1||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||8/11|ENST00000479135.5:n.6367+51A>G|||||||rs3747142||1||HGNC|HGNC:3508|1||||||||Ensembl||A|A||1||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||4/6|ENST00000483629.5:n.613+51A>G|||||||rs3747142||1||HGNC|HGNC:3508|5||||||||Ensembl||A|A||1||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||2/3|ENST00000610553.1:n.966+51A>G|||||||rs3747142||1||HGNC|HGNC:3508|2||||||||Ensembl||A|A||1||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||11/14|ENST00000629659.2:c.1201+51A>G|||||||rs3747142||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||A|A||1||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||2/2|ENST00000780180.1:n.360-1127T>C|||||||rs3747142||-1||||||||||||Ensembl||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs3747142|645|-1||||||||||||Ensembl||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||13/16|NM_001163285.2:c.1414+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||12/15|NM_001163286.2:c.1249+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||13/16|NM_005243.4:c.1417+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||14/17|NM_013986.4:c.1432+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||13/16|XM_005261389.5:c.1417+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||12/15|XM_005261390.5:c.1249+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||13/16|XM_011529995.4:c.1420+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||13/16|XM_011529996.4:c.1417+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||13/16|XM_011529997.3:c.1420+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||13/16|XM_011529998.3:c.1417+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||13/16|XM_011529999.4:c.1420+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||13/16|XM_011530000.3:c.1420+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||12/15|XM_011530001.3:c.1252+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||11/14|XM_011530002.4:c.1201+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||13/16|XM_017028644.3:c.1414+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||13/16|XM_017028645.3:c.1417+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||13/16|XM_017028646.3:c.1417+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||13/16|XM_017028647.3:c.1414+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||13/16|XM_017028648.3:c.1414+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||12/15|XM_017028649.3:c.1298-733A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||12/15|XM_017028650.3:c.1298-733A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||12/15|XM_017028651.3:c.1295-733A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||12/15|XM_017028652.3:c.1295-733A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||12/15|XM_017028653.3:c.1292-733A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||12/15|XM_017028654.2:c.1249+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||12/15|XM_017028655.2:c.1246+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||12/15|XM_017028656.3:c.1295-733A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||12/15|XM_017028658.2:c.1249+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||12/15|XM_017028659.2:c.1246+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||12/15|XM_017028660.3:c.1292-733A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||12/15|XM_017028662.3:c.1246+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||11/14|XM_017028663.2:c.1124-733A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||11/14|XM_024452180.2:c.1201+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||11/14|XM_024452181.2:c.1198+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||13/16|XM_047441186.1:c.1417+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||13/16|XM_047441187.1:c.1417+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||12/15|XM_047441188.1:c.1295-733A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||12/15|XM_047441189.1:c.1292-733A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||12/15|XM_047441190.1:c.1298-733A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||12/15|XM_047441191.1:c.1252+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||12/15|XM_047441192.1:c.1298-733A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||11/14|XM_047441193.1:c.1198+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||12/15|XM_047441194.1:c.1249+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||11/14|XM_047441195.1:c.1201+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||11/14|XM_047441196.1:c.1198+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||12/15|XM_047441197.1:c.1249+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||11/14|XM_047441198.1:c.1198+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||10/13|XM_047441199.1:c.1079-733A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||10/13|XM_047441200.1:c.1076-733A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||,G|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||10/13|XM_047441201.1:c.1030+51A>G|||||||rs3747142||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||A|A||||chr22:g.29298000A>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29298000A>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=EWSR1:2130;ClinVar_Variation_ID=1252933;SpliceAI=G|EWSR1|0.00|0.00|0.00|0.00|-16|26|-17|-10;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000469669,ENST00000479135,ENST00000483629,ENST00000610553,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,.,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=275095;gnomADv4_1_AC_joint_XX=135591;gnomADv4_1_AC_joint_XY=139504;gnomADv4_1_AF_grpmax_joint=0.345604;gnomADv4_1_AF_joint=0.176176;gnomADv4_1_AF_joint_XX=0.17176;gnomADv4_1_AF_joint_XY=0.180691;gnomADv4_1_AN_grpmax_joint=44198;gnomADv4_1_AN_joint=1561482;gnomADv4_1_AN_joint_XX=789422;gnomADv4_1_AN_joint_XY=772060;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=27423;gnomADv4_1_nhomalt_joint_XX=12994;gnomADv4_1_nhomalt_joint_XY=14429;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29298322 chr22_29298322_G_A G A 34 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.478;CADD_Rawscore=-0.204212;CSQ=A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||11/14|ENST00000331029.11:c.1303+373G>A|||||||rs140066||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||G|G||1||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||12/15|ENST00000332035.10:c.1249+373G>A|||||||rs140066||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||G|G||1||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||13/16|ENST00000332050.10:c.1309+373G>A|||||||rs140066||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||G|G||1||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||4/7|ENST00000360091.3:c.383+373G>A|||||||rs140066||1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||G|G||1||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||13/16|ENST00000397938.7:c.1417+373G>A|||||||rs140066||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||G|G||1||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||13/16|ENST00000406548.5:c.1414+373G>A|||||||rs140066||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||G|G||1||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||14/17|ENST00000414183.6:c.1432+373G>A|||||||rs140066||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||G|G||1||chr22:g.29298322G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||4/7|ENST00000469669.5:n.1712+373G>A|||||||rs140066||1||HGNC|HGNC:3508|2||||||||Ensembl||G|G||1||chr22:g.29298322G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||8/11|ENST00000479135.5:n.6367+373G>A|||||||rs140066||1||HGNC|HGNC:3508|1||||||||Ensembl||G|G||1||chr22:g.29298322G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||4/6|ENST00000483629.5:n.613+373G>A|||||||rs140066||1||HGNC|HGNC:3508|5||||||||Ensembl||G|G||1||chr22:g.29298322G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||2/3|ENST00000610553.1:n.966+373G>A|||||||rs140066||1||HGNC|HGNC:3508|2||||||||Ensembl||G|G||1||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||11/14|ENST00000629659.2:c.1201+373G>A|||||||rs140066||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||G|G||1||chr22:g.29298322G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||2/2|ENST00000780180.1:n.359+1272C>T|||||||rs140066||-1||||||||||||Ensembl||G|G||||chr22:g.29298322G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs140066|323|-1||||||||||||Ensembl||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||13/16|NM_001163285.2:c.1414+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||12/15|NM_001163286.2:c.1249+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||13/16|NM_005243.4:c.1417+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||14/17|NM_013986.4:c.1432+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||13/16|XM_005261389.5:c.1417+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||12/15|XM_005261390.5:c.1249+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||13/16|XM_011529995.4:c.1420+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||13/16|XM_011529996.4:c.1417+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||13/16|XM_011529997.3:c.1420+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||13/16|XM_011529998.3:c.1417+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||13/16|XM_011529999.4:c.1420+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||13/16|XM_011530000.3:c.1420+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||12/15|XM_011530001.3:c.1252+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||11/14|XM_011530002.4:c.1201+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||13/16|XM_017028644.3:c.1414+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||13/16|XM_017028645.3:c.1417+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||13/16|XM_017028646.3:c.1417+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||13/16|XM_017028647.3:c.1414+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||13/16|XM_017028648.3:c.1414+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||12/15|XM_017028649.3:c.1298-411G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||12/15|XM_017028650.3:c.1298-411G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||12/15|XM_017028651.3:c.1295-411G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||12/15|XM_017028652.3:c.1295-411G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||12/15|XM_017028653.3:c.1292-411G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||12/15|XM_017028654.2:c.1249+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||12/15|XM_017028655.2:c.1246+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||12/15|XM_017028656.3:c.1295-411G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||12/15|XM_017028658.2:c.1249+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||12/15|XM_017028659.2:c.1246+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||12/15|XM_017028660.3:c.1292-411G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||12/15|XM_017028662.3:c.1246+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||11/14|XM_017028663.2:c.1124-411G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||11/14|XM_024452180.2:c.1201+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||11/14|XM_024452181.2:c.1198+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||13/16|XM_047441186.1:c.1417+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||13/16|XM_047441187.1:c.1417+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||12/15|XM_047441188.1:c.1295-411G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||12/15|XM_047441189.1:c.1292-411G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||12/15|XM_047441190.1:c.1298-411G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||12/15|XM_047441191.1:c.1252+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||12/15|XM_047441192.1:c.1298-411G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||11/14|XM_047441193.1:c.1198+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||12/15|XM_047441194.1:c.1249+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||11/14|XM_047441195.1:c.1201+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||11/14|XM_047441196.1:c.1198+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||12/15|XM_047441197.1:c.1249+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||11/14|XM_047441198.1:c.1198+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||10/13|XM_047441199.1:c.1079-411G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||10/13|XM_047441200.1:c.1076-411G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||10/13|XM_047441201.1:c.1030+373G>A|||||||rs140066||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||G|G||||chr22:g.29298322G>A|||||||||||||;SpliceAI=A|EWSR1|0.00|0.00|0.00|0.00|2|42|2|42;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000469669,ENST00000479135,ENST00000483629,ENST00000610553,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,.,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=95800;gnomADv4_1_AC_joint_XX=49296;gnomADv4_1_AC_joint_XY=46504;gnomADv4_1_AF_grpmax_joint=0.754889;gnomADv4_1_AF_joint=0.630761;gnomADv4_1_AF_joint_XX=0.635045;gnomADv4_1_AF_joint_XY=0.626283;gnomADv4_1_AN_grpmax_joint=41422;gnomADv4_1_AN_joint=151880;gnomADv4_1_AN_joint_XX=77626;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=30734;gnomADv4_1_nhomalt_joint_XX=15909;gnomADv4_1_nhomalt_joint_XY=14825;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29298493 chr22_29298493_T_C T C 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.447;CADD_Rawscore=-0.220987;CSQ=C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||11/14|ENST00000331029.11:c.1304-240T>C|||||||rs2857462||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||T|T||1||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||12/15|ENST00000332035.10:c.1250-240T>C|||||||rs2857462||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||T|T||1||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||13/16|ENST00000332050.10:c.1310-240T>C|||||||rs2857462||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||T|T||1||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||4/7|ENST00000360091.3:c.384-240T>C|||||||rs2857462||1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||T|T||1||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||13/16|ENST00000397938.7:c.1418-240T>C|||||||rs2857462||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||T|T||1||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||13/16|ENST00000406548.5:c.1415-240T>C|||||||rs2857462||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||T|T||1||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||14/17|ENST00000414183.6:c.1433-240T>C|||||||rs2857462||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||T|T||1||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||4/7|ENST00000469669.5:n.1713-240T>C|||||||rs2857462||1||HGNC|HGNC:3508|2||||||||Ensembl||T|T||1||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||8/11|ENST00000479135.5:n.6368-240T>C|||||||rs2857462||1||HGNC|HGNC:3508|1||||||||Ensembl||T|T||1||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||4/6|ENST00000483629.5:n.614-240T>C|||||||rs2857462||1||HGNC|HGNC:3508|5||||||||Ensembl||T|T||1||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||2/3|ENST00000610553.1:n.967-240T>C|||||||rs2857462||1||HGNC|HGNC:3508|2||||||||Ensembl||T|T||1||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||11/14|ENST00000629659.2:c.1202-240T>C|||||||rs2857462||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||T|T||1||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||2/2|ENST00000780180.1:n.359+1101A>G|||||||rs2857462||-1||||||||||||Ensembl||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs2857462|152|-1||||||||||||Ensembl||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||13/16|NM_001163285.2:c.1415-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||12/15|NM_001163286.2:c.1250-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||13/16|NM_005243.4:c.1418-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||14/17|NM_013986.4:c.1433-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||13/16|XM_005261389.5:c.1418-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||12/15|XM_005261390.5:c.1250-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||13/16|XM_011529995.4:c.1421-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||13/16|XM_011529996.4:c.1418-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||13/16|XM_011529997.3:c.1421-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||13/16|XM_011529998.3:c.1418-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||13/16|XM_011529999.4:c.1421-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||13/16|XM_011530000.3:c.1421-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||12/15|XM_011530001.3:c.1253-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||11/14|XM_011530002.4:c.1202-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||13/16|XM_017028644.3:c.1415-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||13/16|XM_017028645.3:c.1418-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||13/16|XM_017028646.3:c.1418-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||13/16|XM_017028647.3:c.1415-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||13/16|XM_017028648.3:c.1415-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||12/15|XM_017028649.3:c.1298-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||12/15|XM_017028650.3:c.1298-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||12/15|XM_017028651.3:c.1295-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||12/15|XM_017028652.3:c.1295-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||12/15|XM_017028653.3:c.1292-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||12/15|XM_017028654.2:c.1250-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||12/15|XM_017028655.2:c.1247-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||12/15|XM_017028656.3:c.1295-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||12/15|XM_017028658.2:c.1250-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||12/15|XM_017028659.2:c.1247-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||12/15|XM_017028660.3:c.1292-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||12/15|XM_017028662.3:c.1247-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||11/14|XM_017028663.2:c.1124-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||11/14|XM_024452180.2:c.1202-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||11/14|XM_024452181.2:c.1199-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||13/16|XM_047441186.1:c.1418-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||13/16|XM_047441187.1:c.1418-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||12/15|XM_047441188.1:c.1295-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||12/15|XM_047441189.1:c.1292-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||12/15|XM_047441190.1:c.1298-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||12/15|XM_047441191.1:c.1253-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||12/15|XM_047441192.1:c.1298-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||11/14|XM_047441193.1:c.1199-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||12/15|XM_047441194.1:c.1250-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||11/14|XM_047441195.1:c.1202-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||11/14|XM_047441196.1:c.1199-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||12/15|XM_047441197.1:c.1250-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||11/14|XM_047441198.1:c.1199-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||10/13|XM_047441199.1:c.1079-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||10/13|XM_047441200.1:c.1076-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||,C|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||10/13|XM_047441201.1:c.1031-240T>C|||||||rs2857462||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||T|T||||chr22:g.29298493T>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29298493T>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=EWSR1:2130;ClinVar_Variation_ID=1226351;SpliceAI=C|EWSR1|0.00|0.00|0.00|0.00|-14|42|-4|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000469669,ENST00000479135,ENST00000483629,ENST00000610553,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,.,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=95177;gnomADv4_1_AC_joint_XX=49244;gnomADv4_1_AC_joint_XY=45933;gnomADv4_1_AF_grpmax_joint=0.803372;gnomADv4_1_AF_joint=0.646847;gnomADv4_1_AF_joint_XX=0.650601;gnomADv4_1_AF_joint_XY=0.642869;gnomADv4_1_AN_grpmax_joint=39684;gnomADv4_1_AN_joint=147140;gnomADv4_1_AN_joint_XX=75690;gnomADv4_1_AN_joint_XY=71450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31408;gnomADv4_1_nhomalt_joint_XX=16332;gnomADv4_1_nhomalt_joint_XY=15076;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29298507 chr22_29298507_C_CA C CA 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=1.159;CADDIndel_Rawscore=0.020637;CSQ=A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||11/14|ENST00000331029.11:c.1304-208dup|||||||rs35896020||1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl|||||1|18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||12/15|ENST00000332035.10:c.1250-208dup|||||||rs35896020||1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl|||||1|18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||13/16|ENST00000332050.10:c.1310-208dup|||||||rs35896020||1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl|||||1|18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||4/7|ENST00000360091.3:c.384-208dup|||||||rs35896020||1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl|||||1|18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||13/16|ENST00000397938.7:c.1418-208dup|||||||rs35896020||1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl|||||1|18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||13/16|ENST00000406548.5:c.1415-208dup|||||||rs35896020||1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl|||||1|18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||14/17|ENST00000414183.6:c.1433-208dup|||||||rs35896020||1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl|||||1|18|chr22:g.29298525dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||4/7|ENST00000469669.5:n.1713-208dup|||||||rs35896020||1||HGNC|HGNC:3508|2||||||||Ensembl|||||1|18|chr22:g.29298525dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||8/11|ENST00000479135.5:n.6368-208dup|||||||rs35896020||1||HGNC|HGNC:3508|1||||||||Ensembl|||||1|18|chr22:g.29298525dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||4/6|ENST00000483629.5:n.614-208dup|||||||rs35896020||1||HGNC|HGNC:3508|5||||||||Ensembl|||||1|18|chr22:g.29298525dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||2/3|ENST00000610553.1:n.967-208dup|||||||rs35896020||1||HGNC|HGNC:3508|2||||||||Ensembl|||||1|18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||11/14|ENST00000629659.2:c.1202-208dup|||||||rs35896020||1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl|||||1|18|chr22:g.29298525dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||2/2|ENST00000780180.1:n.359+1086dup|||||||rs35896020||-1||||||||||||Ensembl|||||||chr22:g.29298525dup|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs35896020|137|-1||||||||||||Ensembl|||||||chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||13/16|NM_001163285.2:c.1415-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||12/15|NM_001163286.2:c.1250-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||13/16|NM_005243.4:c.1418-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||14/17|NM_013986.4:c.1433-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||13/16|XM_005261389.5:c.1418-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||12/15|XM_005261390.5:c.1250-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||13/16|XM_011529995.4:c.1421-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||13/16|XM_011529996.4:c.1418-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||13/16|XM_011529997.3:c.1421-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||13/16|XM_011529998.3:c.1418-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||13/16|XM_011529999.4:c.1421-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||13/16|XM_011530000.3:c.1421-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||12/15|XM_011530001.3:c.1253-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||11/14|XM_011530002.4:c.1202-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||13/16|XM_017028644.3:c.1415-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||13/16|XM_017028645.3:c.1418-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||13/16|XM_017028646.3:c.1418-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||13/16|XM_017028647.3:c.1415-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||13/16|XM_017028648.3:c.1415-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||12/15|XM_017028649.3:c.1298-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||12/15|XM_017028650.3:c.1298-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||12/15|XM_017028651.3:c.1295-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||12/15|XM_017028652.3:c.1295-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||12/15|XM_017028653.3:c.1292-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||12/15|XM_017028654.2:c.1250-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||12/15|XM_017028655.2:c.1247-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||12/15|XM_017028656.3:c.1295-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||12/15|XM_017028658.2:c.1250-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||12/15|XM_017028659.2:c.1247-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||12/15|XM_017028660.3:c.1292-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||12/15|XM_017028662.3:c.1247-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||11/14|XM_017028663.2:c.1124-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||11/14|XM_024452180.2:c.1202-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||11/14|XM_024452181.2:c.1199-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||13/16|XM_047441186.1:c.1418-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||13/16|XM_047441187.1:c.1418-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||12/15|XM_047441188.1:c.1295-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||12/15|XM_047441189.1:c.1292-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||12/15|XM_047441190.1:c.1298-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||12/15|XM_047441191.1:c.1253-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||12/15|XM_047441192.1:c.1298-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||11/14|XM_047441193.1:c.1199-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||12/15|XM_047441194.1:c.1250-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||11/14|XM_047441195.1:c.1202-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||11/14|XM_047441196.1:c.1199-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||12/15|XM_047441197.1:c.1250-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||11/14|XM_047441198.1:c.1199-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||10/13|XM_047441199.1:c.1079-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||10/13|XM_047441200.1:c.1076-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||,A|intron_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||10/13|XM_047441201.1:c.1031-208dup|||||||rs35896020||1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||||||18|chr22:g.29298525dup|||||||||||||;SpliceAI=CA|EWSR1|0.00|0.00|0.00|0.00|28|42|3|-16;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000414183,ENST00000469669,ENST00000479135,ENST00000483629,ENST00000610553,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_005243.4,NM_013986.4,XM_005261389.5,XM_005261390.5,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,.,.,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33043;gnomADv4_1_AC_joint_XX=17243;gnomADv4_1_AC_joint_XY=15800;gnomADv4_1_AF_grpmax_joint=0.403385;gnomADv4_1_AF_joint=0.308952;gnomADv4_1_AF_joint_XX=0.308109;gnomADv4_1_AF_joint_XY=0.309877;gnomADv4_1_AN_grpmax_joint=3840;gnomADv4_1_AN_joint=106952;gnomADv4_1_AN_joint_XX=55964;gnomADv4_1_AN_joint_XY=50988;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4469;gnomADv4_1_nhomalt_joint_XX=2307;gnomADv4_1_nhomalt_joint_XY=2162;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29302195 chr22_29302195_GC_G GC G 51 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.877;CADDIndel_Rawscore=-0.051578;CSQ=-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1671|1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||C|C||1||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1860|1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||C|C||1||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1674|1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||C|C||1||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1671|1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||C|C||1||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||C|C||1||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1860|1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||C|C||1||chr22:g.29302197del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|4827|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1853|1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||C|C||1||chr22:g.29302197del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|4422|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||C|C||||chr22:g.29302197del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|4454|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1671|1||HGNC|HGNC:3508|2||||||||Ensembl||C|C||1||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1671|1||HGNC|HGNC:3508|1||||||||Ensembl||C|C||1||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1671|1||HGNC|HGNC:3508|5||||||||Ensembl||C|C||1||chr22:g.29302197del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|4862|1||HGNC|HGNC:16955|4||||||||Ensembl||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1860|1||HGNC|HGNC:3508|2||||||||Ensembl||C|C||1||chr22:g.29302197del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|4845|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||C|C||||chr22:g.29302197del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|4862|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||C|C||||chr22:g.29302197del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|4454|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||C|C||||chr22:g.29302197del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|4862|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||C|C||||chr22:g.29302197del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|4856|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1672|1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||C|C||1||chr22:g.29302197del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.118-2361del|||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802||-1||||||||||||Ensembl||C|C||||chr22:g.29302197del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||1/1|ENST00000780181.1:n.227-2361del|||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802||-1||||||||||||Ensembl||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|4827|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|4454|1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|4827|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|4827|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|4827|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|4827|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|4454|1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||||||||||rs2149019381&rs2149019387&rs2149019393&rs2149019401&rs3216802|1675|1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||C|C||||chr22:g.29302197del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000406549,ENST00000414183,ENST00000416823,ENST00000428622,ENST00000469669,ENST00000479135,ENST00000483629,ENST00000487341,ENST00000610553,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_005243.4,NM_006478.5,NM_013986.4,NM_152236.3,XM_005261389.5,XM_005261390.5,XM_011529825.1,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000185340,ENSG00000182944,ENSG00000185340,ENSG00000185340,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000185340,ENSG00000182944,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,10634,10634,10634,10634,2130,10634,2130,10634,2130,2130,10634,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,GAS2L1,EWSR1,GAS2L1,GAS2L1,EWSR1,EWSR1,EWSR1,GAS2L1,EWSR1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,EWSR1,.,.,EWSR1,EWSR1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,EWSR1,GAS2L1,EWSR1,GAS2L1,EWSR1,EWSR1,GAS2L1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98779;gnomADv4_1_AC_joint_XX=50862;gnomADv4_1_AC_joint_XY=47917;gnomADv4_1_AF_grpmax_joint=0.808113;gnomADv4_1_AF_joint=0.649836;gnomADv4_1_AF_joint_XX=0.654359;gnomADv4_1_AF_joint_XY=0.645104;gnomADv4_1_AN_grpmax_joint=41488;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=32918;gnomADv4_1_nhomalt_joint_XX=17070;gnomADv4_1_nhomalt_joint_XY=15848;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29303764 chr22_29303764_CGTGTGTGTGT_C;chr22_29303764_C_CGT;chr22_29303764_CGTGT_C;chr22_29303764_CGT_C CGTGTGTGTGT C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=1.745;CADDIndel_Rawscore=0.127973;CSQ=-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||||||||||rs59801058|3240|1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||GTGTGTGTGT|GTGTGTGTGT||1||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||||||||||rs59801058|3429|1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||GTGTGTGTGT|GTGTGTGTGT||1||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||||||||||rs59801058|3243|1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||GTGTGTGTGT|GTGTGTGTGT||1||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||||||||||rs59801058|3240|1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||GTGTGTGTGT|GTGTGTGTGT||1||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||||||||||rs59801058|3244|1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||GTGTGTGTGT|GTGTGTGTGT||1||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||||||||||rs59801058|3429|1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||GTGTGTGTGT|GTGTGTGTGT||1||chr22:g.29303802_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs59801058|3249|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||||||||||rs59801058|3422|1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||GTGTGTGTGT|GTGTGTGTGT||1||chr22:g.29303802_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||||||||||rs59801058|2844|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||||||||||rs59801058|2876|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||||||||||rs59801058|3240|1||HGNC|HGNC:3508|2||||||||Ensembl||GTGTGTGTGT|GTGTGTGTGT||1||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||||||||||rs59801058|3240|1||HGNC|HGNC:3508|1||||||||Ensembl||GTGTGTGTGT|GTGTGTGTGT||1||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||||||||||rs59801058|3240|1||HGNC|HGNC:3508|5||||||||Ensembl||GTGTGTGTGT|GTGTGTGTGT||1||chr22:g.29303802_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs59801058|3284|1||HGNC|HGNC:16955|4||||||||Ensembl||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||||||||||rs59801058|3429|1||HGNC|HGNC:3508|2||||||||Ensembl||GTGTGTGTGT|GTGTGTGTGT||1||chr22:g.29303802_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs59801058|3267|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs59801058|3284|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||||||||||rs59801058|2876|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs59801058|3284|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs59801058|3278|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||||||||||rs59801058|3241|1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||GTGTGTGTGT|GTGTGTGTGT||1||chr22:g.29303802_29303811del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.118-3939_118-3930del|||||||rs59801058||-1||||||||||||Ensembl||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||1/1|ENST00000780181.1:n.226+2692_226+2701del|||||||rs59801058||-1||||||||||||Ensembl||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs59801058|3249|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||||||||||rs59801058|2876|1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs59801058|3249|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs59801058|3249|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs59801058|3249|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs59801058|3249|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||||||||||rs59801058|2876|1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||GTGTGTGTGT|GTGTGTGTGT||||chr22:g.29303802_29303811del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000406549,ENST00000414183,ENST00000416823,ENST00000428622,ENST00000469669,ENST00000479135,ENST00000483629,ENST00000487341,ENST00000610553,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_005243.4,NM_006478.5,NM_013986.4,NM_152236.3,XM_005261389.5,XM_005261390.5,XM_011529825.1,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000185340,ENSG00000182944,ENSG00000185340,ENSG00000185340,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000185340,ENSG00000182944,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,10634,10634,10634,10634,2130,10634,2130,10634,2130,2130,10634,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,GAS2L1,EWSR1,GAS2L1,GAS2L1,EWSR1,EWSR1,EWSR1,GAS2L1,EWSR1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,EWSR1,.,.,EWSR1,EWSR1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,EWSR1,GAS2L1,EWSR1,GAS2L1,EWSR1,EWSR1,GAS2L1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10265;gnomADv4_1_AC_joint_XX=5440;gnomADv4_1_AC_joint_XY=4825;gnomADv4_1_AF_grpmax_joint=0.0913363;gnomADv4_1_AF_joint=0.0764152;gnomADv4_1_AF_joint_XX=0.0774907;gnomADv4_1_AF_joint_XY=0.0752378;gnomADv4_1_AN_grpmax_joint=63414;gnomADv4_1_AN_joint=134332;gnomADv4_1_AN_joint_XX=70202;gnomADv4_1_AN_joint_XY=64130;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=426;gnomADv4_1_nhomalt_joint_XX=211;gnomADv4_1_nhomalt_joint_XY=215;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29303764 chr22_29303764_CGTGTGTGTGT_C;chr22_29303764_C_CGT;chr22_29303764_CGTGT_C;chr22_29303764_CGT_C C CGT 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADDIndel_PHREDscore=1.095;CADDIndel_Rawscore=0.005785;CSQ=GT|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||||||||||rs59801058|3239|1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl|||||1||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||||||||||rs59801058|3428|1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl|||||1||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||||||||||rs59801058|3242|1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl|||||1||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||||||||||rs59801058|3239|1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl|||||1||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||||||||||rs59801058|3243|1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl|||||1||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||||||||||rs59801058|3428|1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl|||||1||chr22:g.29303810_29303811dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs59801058|3258|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||||||||||rs59801058|3421|1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl|||||1||chr22:g.29303810_29303811dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||||||||||rs59801058|2853|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||||||||||rs59801058|2885|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||||||||||rs59801058|3239|1||HGNC|HGNC:3508|2||||||||Ensembl|||||1||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||||||||||rs59801058|3239|1||HGNC|HGNC:3508|1||||||||Ensembl|||||1||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||||||||||rs59801058|3239|1||HGNC|HGNC:3508|5||||||||Ensembl|||||1||chr22:g.29303810_29303811dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs59801058|3293|1||HGNC|HGNC:16955|4||||||||Ensembl|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||||||||||rs59801058|3428|1||HGNC|HGNC:3508|2||||||||Ensembl|||||1||chr22:g.29303810_29303811dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs59801058|3276|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs59801058|3293|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||||||||||rs59801058|2885|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs59801058|3293|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs59801058|3287|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||||||||||rs59801058|3240|1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl|||||1||chr22:g.29303810_29303811dup|||||||||||||,GT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.118-3931_118-3930dup|||||||rs59801058||-1||||||||||||Ensembl|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||1/1|ENST00000780181.1:n.226+2700_226+2701dup|||||||rs59801058||-1||||||||||||Ensembl|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs59801058|3258|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||||||||||rs59801058|2885|1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs59801058|3258|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs59801058|3258|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs59801058|3258|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs59801058|3258|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||||||||||rs59801058|2885|1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||,GT|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||||||||||rs59801058|3243|1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq|||||||chr22:g.29303810_29303811dup|||||||||||||;TYPE=INDEL;VEP_Allele=GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000406549,ENST00000414183,ENST00000416823,ENST00000428622,ENST00000469669,ENST00000479135,ENST00000483629,ENST00000487341,ENST00000610553,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_005243.4,NM_006478.5,NM_013986.4,NM_152236.3,XM_005261389.5,XM_005261390.5,XM_011529825.1,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000185340,ENSG00000182944,ENSG00000185340,ENSG00000185340,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000185340,ENSG00000182944,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,10634,10634,10634,10634,2130,10634,2130,10634,2130,2130,10634,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,GAS2L1,EWSR1,GAS2L1,GAS2L1,EWSR1,EWSR1,EWSR1,GAS2L1,EWSR1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,EWSR1,.,.,EWSR1,EWSR1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,EWSR1,GAS2L1,EWSR1,GAS2L1,EWSR1,EWSR1,GAS2L1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20649;gnomADv4_1_AC_joint_XX=10797;gnomADv4_1_AC_joint_XY=9852;gnomADv4_1_AF_grpmax_joint=0.207848;gnomADv4_1_AF_joint=0.153964;gnomADv4_1_AF_joint_XX=0.154062;gnomADv4_1_AF_joint_XY=0.153856;gnomADv4_1_AN_grpmax_joint=4460;gnomADv4_1_AN_joint=134116;gnomADv4_1_AN_joint_XX=70082;gnomADv4_1_AN_joint_XY=64034;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1767;gnomADv4_1_nhomalt_joint_XX=913;gnomADv4_1_nhomalt_joint_XY=854;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29303764 chr22_29303764_CGTGTGTGTGT_C;chr22_29303764_C_CGT;chr22_29303764_CGTGT_C;chr22_29303764_CGT_C CGTGT C 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=1.36;CADDIndel_Rawscore=0.062317;CSQ=-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||||||||||rs59801058|3240|1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||GTGT|GTGT||1||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||||||||||rs59801058|3429|1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||GTGT|GTGT||1||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||||||||||rs59801058|3243|1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||GTGT|GTGT||1||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||||||||||rs59801058|3240|1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||GTGT|GTGT||1||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||||||||||rs59801058|3244|1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||GTGT|GTGT||1||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||||||||||rs59801058|3429|1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||GTGT|GTGT||1||chr22:g.29303808_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs59801058|3255|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||||||||||rs59801058|3422|1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||GTGT|GTGT||1||chr22:g.29303808_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||||||||||rs59801058|2850|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||||||||||rs59801058|2882|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||||||||||rs59801058|3240|1||HGNC|HGNC:3508|2||||||||Ensembl||GTGT|GTGT||1||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||||||||||rs59801058|3240|1||HGNC|HGNC:3508|1||||||||Ensembl||GTGT|GTGT||1||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||||||||||rs59801058|3240|1||HGNC|HGNC:3508|5||||||||Ensembl||GTGT|GTGT||1||chr22:g.29303808_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs59801058|3290|1||HGNC|HGNC:16955|4||||||||Ensembl||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||||||||||rs59801058|3429|1||HGNC|HGNC:3508|2||||||||Ensembl||GTGT|GTGT||1||chr22:g.29303808_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs59801058|3273|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs59801058|3290|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||||||||||rs59801058|2882|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs59801058|3290|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs59801058|3284|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||||||||||rs59801058|3241|1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||GTGT|GTGT||1||chr22:g.29303808_29303811del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.118-3933_118-3930del|||||||rs59801058||-1||||||||||||Ensembl||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||1/1|ENST00000780181.1:n.226+2698_226+2701del|||||||rs59801058||-1||||||||||||Ensembl||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs59801058|3255|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||||||||||rs59801058|2882|1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs59801058|3255|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs59801058|3255|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs59801058|3255|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs59801058|3255|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||||||||||rs59801058|2882|1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||GTGT|GTGT||||chr22:g.29303808_29303811del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000406549,ENST00000414183,ENST00000416823,ENST00000428622,ENST00000469669,ENST00000479135,ENST00000483629,ENST00000487341,ENST00000610553,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_005243.4,NM_006478.5,NM_013986.4,NM_152236.3,XM_005261389.5,XM_005261390.5,XM_011529825.1,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000185340,ENSG00000182944,ENSG00000185340,ENSG00000185340,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000185340,ENSG00000182944,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,10634,10634,10634,10634,2130,10634,2130,10634,2130,2130,10634,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,GAS2L1,EWSR1,GAS2L1,GAS2L1,EWSR1,EWSR1,EWSR1,GAS2L1,EWSR1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,EWSR1,.,.,EWSR1,EWSR1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,EWSR1,GAS2L1,EWSR1,GAS2L1,EWSR1,EWSR1,GAS2L1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32816;gnomADv4_1_AC_joint_XX=17045;gnomADv4_1_AC_joint_XY=15771;gnomADv4_1_AF_grpmax_joint=0.315217;gnomADv4_1_AF_joint=0.244644;gnomADv4_1_AF_joint_XX=0.243146;gnomADv4_1_AF_joint_XY=0.246283;gnomADv4_1_AN_grpmax_joint=276;gnomADv4_1_AN_joint=134138;gnomADv4_1_AN_joint_XX=70102;gnomADv4_1_AN_joint_XY=64036;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4662;gnomADv4_1_nhomalt_joint_XX=2373;gnomADv4_1_nhomalt_joint_XY=2289;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29303764 chr22_29303764_CGTGTGTGTGT_C;chr22_29303764_C_CGT;chr22_29303764_CGTGT_C;chr22_29303764_CGT_C CGT C 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=27;CADDIndel_PHREDscore=1.143;CADDIndel_Rawscore=0.016832;CSQ=-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||||||||||rs59801058|3240|1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||GT|GT||1||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||||||||||rs59801058|3429|1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||GT|GT||1||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||||||||||rs59801058|3243|1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||GT|GT||1||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||||||||||rs59801058|3240|1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||GT|GT||1||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||||||||||rs59801058|3244|1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||GT|GT||1||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||||||||||rs59801058|3429|1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||GT|GT||1||chr22:g.29303810_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs59801058|3257|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||||||||||rs59801058|3422|1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||GT|GT||1||chr22:g.29303810_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||||||||||rs59801058|2852|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||||||||||rs59801058|2884|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||||||||||rs59801058|3240|1||HGNC|HGNC:3508|2||||||||Ensembl||GT|GT||1||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||||||||||rs59801058|3240|1||HGNC|HGNC:3508|1||||||||Ensembl||GT|GT||1||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||||||||||rs59801058|3240|1||HGNC|HGNC:3508|5||||||||Ensembl||GT|GT||1||chr22:g.29303810_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs59801058|3292|1||HGNC|HGNC:16955|4||||||||Ensembl||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||||||||||rs59801058|3429|1||HGNC|HGNC:3508|2||||||||Ensembl||GT|GT||1||chr22:g.29303810_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs59801058|3275|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs59801058|3292|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||||||||||rs59801058|2884|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs59801058|3292|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs59801058|3286|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||||||||||rs59801058|3241|1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||GT|GT||1||chr22:g.29303810_29303811del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.118-3931_118-3930del|||||||rs59801058||-1||||||||||||Ensembl||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||1/1|ENST00000780181.1:n.226+2700_226+2701del|||||||rs59801058||-1||||||||||||Ensembl||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs59801058|3257|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||||||||||rs59801058|2884|1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs59801058|3257|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs59801058|3257|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs59801058|3257|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs59801058|3257|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||||||||||rs59801058|2884|1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||||||||||rs59801058|3244|1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||GT|GT||||chr22:g.29303810_29303811del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000406549,ENST00000414183,ENST00000416823,ENST00000428622,ENST00000469669,ENST00000479135,ENST00000483629,ENST00000487341,ENST00000610553,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_005243.4,NM_006478.5,NM_013986.4,NM_152236.3,XM_005261389.5,XM_005261390.5,XM_011529825.1,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000185340,ENSG00000182944,ENSG00000185340,ENSG00000185340,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000185340,ENSG00000182944,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,10634,10634,10634,10634,2130,10634,2130,10634,2130,2130,10634,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,GAS2L1,EWSR1,GAS2L1,GAS2L1,EWSR1,EWSR1,EWSR1,GAS2L1,EWSR1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,EWSR1,.,.,EWSR1,EWSR1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,EWSR1,GAS2L1,EWSR1,GAS2L1,EWSR1,EWSR1,GAS2L1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7731;gnomADv4_1_AC_joint_XX=3926;gnomADv4_1_AC_joint_XY=3805;gnomADv4_1_AF_grpmax_joint=0.1329;gnomADv4_1_AF_joint=0.0576226;gnomADv4_1_AF_joint_XX=0.0559802;gnomADv4_1_AF_joint_XY=0.0594216;gnomADv4_1_AN_grpmax_joint=4462;gnomADv4_1_AN_joint=134166;gnomADv4_1_AN_joint_XX=70132;gnomADv4_1_AN_joint_XY=64034;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=250;gnomADv4_1_nhomalt_joint_XX=125;gnomADv4_1_nhomalt_joint_XY=125;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29304698 chr22_29304698_CTG_C CTG C 48 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.803;CADDIndel_Rawscore=-0.074079;CSQ=-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000331029|protein_coding||||||||||rs10557864|4174|1||HGNC|HGNC:3508|5||ENSP00000330516||B0QYK0.100|UPI000161108E|||Ensembl||TG|TG||1||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332035|protein_coding||||||||||rs10557864|4363|1||HGNC|HGNC:3508|2|CCDS54514.1|ENSP00000331699|Q01844.245||UPI0000457066|Q01844-6||Ensembl||TG|TG||1||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000332050|protein_coding||||||||||rs10557864|4177|1||HGNC|HGNC:3508|1||ENSP00000330896||C9JGE3.108|UPI0003C9CEBA|||Ensembl||TG|TG||1||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000360091|protein_coding||||||||||rs10557864|4174|1|cds_start_NF|HGNC|HGNC:3508|5||ENSP00000353204||H7BY36.70|UPI0001611095|||Ensembl||TG|TG||1||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000397938|protein_coding||||||||||rs10557864|4178|1||HGNC|HGNC:3508|1|CCDS13851.1|ENSP00000381031|Q01844.245||UPI000012A2B1|Q01844-1||Ensembl||TG|TG||1||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000406548|protein_coding||||||||||rs10557864|4363|1||HGNC|HGNC:3508|1|CCDS54513.1|ENSP00000385726|Q01844.245||UPI0000072CFA|Q01844-3||Ensembl||TG|TG||1||chr22:g.29304699_29304700del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs10557864|2323|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000414183|protein_coding||||||||||rs10557864|4356|1||HGNC|HGNC:3508|2|CCDS13852.2|ENSP00000400142|Q01844.245||UPI000006DE88|Q01844-5||Ensembl||TG|TG||1||chr22:g.29304699_29304700del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||||||||||rs10557864|1918|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||||||||||rs10557864|1950|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000469669|retained_intron||||||||||rs10557864|4174|1||HGNC|HGNC:3508|2||||||||Ensembl||TG|TG||1||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000479135|retained_intron||||||||||rs10557864|4174|1||HGNC|HGNC:3508|1||||||||Ensembl||TG|TG||1||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000483629|retained_intron||||||||||rs10557864|4174|1||HGNC|HGNC:3508|5||||||||Ensembl||TG|TG||1||chr22:g.29304699_29304700del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs10557864|2358|1||HGNC|HGNC:16955|4||||||||Ensembl||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000610553|retained_intron||||||||||rs10557864|4363|1||HGNC|HGNC:3508|2||||||||Ensembl||TG|TG||1||chr22:g.29304699_29304700del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs10557864|2341|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs10557864|2358|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||||||||||rs10557864|1950|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs10557864|2358|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs10557864|2352|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|ENSG00000182944|Transcript|ENST00000629659|protein_coding||||||||||rs10557864|4175|1||HGNC|HGNC:3508|5||ENSP00000486709||A0A0D9SFL3.49|UPI0005D0E951|||Ensembl||TG|TG||1||chr22:g.29304699_29304700del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.118-4865_118-4864del|||||||rs10557864||-1||||||||||||Ensembl||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||1/1|ENST00000780181.1:n.226+1766_226+1767del|||||||rs10557864||-1||||||||||||Ensembl||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163285.2|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||NP_001156757.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_001163286.2|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||NP_001156758.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs10557864|2323|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||||||||||rs10557864|1950|1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs10557864|2323|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs10557864|2323|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_005243.4|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||NP_005234.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs10557864|2323|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|NM_013986.4|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||NP_053733.2||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs10557864|2323|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261389.5|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_005261446.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_005261390.5|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_005261447.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||||||||||rs10557864|1950|1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529995.4|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_011528297.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529996.4|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_011528298.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529997.3|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_011528299.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529998.3|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_011528300.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011529999.4|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_011528301.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530000.3|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_011528302.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530001.3|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_011528303.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_011530002.4|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_011528304.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028644.3|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884133.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028645.3|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884134.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028646.3|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884135.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028647.3|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884136.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028648.3|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884137.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028649.3|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884138.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028650.3|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884139.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028651.3|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884140.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028652.3|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884141.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028653.3|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884142.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028654.2|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884143.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028655.2|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884144.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028656.3|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884145.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028658.2|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884147.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028659.2|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884148.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028660.3|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884149.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028662.3|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884151.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_017028663.2|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_016884152.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452180.2|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_024307948.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_024452181.2|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_024307949.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441186.1|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_047297142.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441187.1|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_047297143.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441188.1|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_047297144.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441189.1|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_047297145.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441190.1|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_047297146.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441191.1|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_047297147.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441192.1|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_047297148.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441193.1|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_047297149.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441194.1|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_047297150.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441195.1|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_047297151.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441196.1|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_047297152.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441197.1|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_047297153.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441198.1|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_047297154.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441199.1|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_047297155.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441200.1|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_047297156.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||,-|downstream_gene_variant|MODIFIER|EWSR1|2130|Transcript|XM_047441201.1|protein_coding||||||||||rs10557864|4178|1||EntrezGene|HGNC:3508|||XP_047297157.1||||||RefSeq||TG|TG||||chr22:g.29304699_29304700del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000331029,ENST00000332035,ENST00000332050,ENST00000360091,ENST00000397938,ENST00000406548,ENST00000406549,ENST00000414183,ENST00000416823,ENST00000428622,ENST00000469669,ENST00000479135,ENST00000483629,ENST00000487341,ENST00000610553,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000629659,ENST00000780180,ENST00000780181,NM_001163285.2,NM_001163286.2,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_005243.4,NM_006478.5,NM_013986.4,NM_152236.3,XM_005261389.5,XM_005261390.5,XM_011529825.1,XM_011529995.4,XM_011529996.4,XM_011529997.3,XM_011529998.3,XM_011529999.4,XM_011530000.3,XM_011530001.3,XM_011530002.4,XM_017028644.3,XM_017028645.3,XM_017028646.3,XM_017028647.3,XM_017028648.3,XM_017028649.3,XM_017028650.3,XM_017028651.3,XM_017028652.3,XM_017028653.3,XM_017028654.2,XM_017028655.2,XM_017028656.3,XM_017028658.2,XM_017028659.2,XM_017028660.3,XM_017028662.3,XM_017028663.2,XM_024452180.2,XM_024452181.2,XM_047441186.1,XM_047441187.1,XM_047441188.1,XM_047441189.1,XM_047441190.1,XM_047441191.1,XM_047441192.1,XM_047441193.1,XM_047441194.1,XM_047441195.1,XM_047441196.1,XM_047441197.1,XM_047441198.1,XM_047441199.1,XM_047441200.1,XM_047441201.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000185340,ENSG00000182944,ENSG00000185340,ENSG00000185340,ENSG00000182944,ENSG00000182944,ENSG00000182944,ENSG00000185340,ENSG00000182944,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000182944,ENSG00000301612,ENSG00000301612,2130,2130,10634,10634,10634,10634,2130,10634,2130,10634,2130,2130,10634,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130,2130;VEP_SYMBOL=EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,GAS2L1,EWSR1,GAS2L1,GAS2L1,EWSR1,EWSR1,EWSR1,GAS2L1,EWSR1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,EWSR1,.,.,EWSR1,EWSR1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,EWSR1,GAS2L1,EWSR1,GAS2L1,EWSR1,EWSR1,GAS2L1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1,EWSR1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98231;gnomADv4_1_AC_joint_XX=50600;gnomADv4_1_AC_joint_XY=47631;gnomADv4_1_AF_grpmax_joint=0.806083;gnomADv4_1_AF_joint=0.648929;gnomADv4_1_AF_joint_XX=0.653477;gnomADv4_1_AF_joint_XY=0.644167;gnomADv4_1_AN_grpmax_joint=41198;gnomADv4_1_AN_joint=151374;gnomADv4_1_AN_joint_XX=77432;gnomADv4_1_AN_joint_XY=73942;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=32675;gnomADv4_1_nhomalt_joint_XX=16930;gnomADv4_1_nhomalt_joint_XY=15745;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29305908 chr22_29305908_CA_C CA C 24 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=24;CADDIndel_PHREDscore=0.436;CADDIndel_Rawscore=-0.227232;CSQ=-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs59323779|1114|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||A|A||||chr22:g.29305931del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||||||||||rs59323779|709|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||A|A||||chr22:g.29305931del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||||||||||rs59323779|741|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||A|A||||chr22:g.29305931del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs59323779|1149|1||HGNC|HGNC:16955|4||||||||Ensembl||A|A||||chr22:g.29305931del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs59323779|4370|1||HGNC|HGNC:16955|2||||||||Ensembl||A|A||||chr22:g.29305931del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs59323779|1132|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||A|A||||chr22:g.29305931del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs59323779|1149|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29305931del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||||||||||rs59323779|741|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29305931del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs59323779|1149|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29305931del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs59323779|1143|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29305931del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.118-6074del|||||||rs59323779||-1||||||||||||Ensembl||A|A||||chr22:g.29305931del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||1/1|ENST00000780181.1:n.226+557del|||||||rs59323779||-1||||||||||||Ensembl||A|A||||chr22:g.29305931del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs59323779|1114|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||A|A||||chr22:g.29305931del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||||||||||rs59323779|741|1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||A|A||||chr22:g.29305931del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs59323779|1114|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||A|A||||chr22:g.29305931del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs59323779|1114|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||A|A||||chr22:g.29305931del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs59323779|1114|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||A|A||||chr22:g.29305931del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs59323779|1114|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||A|A||||chr22:g.29305931del|||||||||||||,-|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||||||||||rs59323779|741|1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||A|A||||chr22:g.29305931del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000406549,ENST00000416823,ENST00000428622,ENST00000487341,ENST00000491016,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,ENST00000780181,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006478.5,NM_152236.3,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,ENSG00000301612,10634,10634,10634,10634,10634,10634,10634;VEP_SYMBOL=GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25454;gnomADv4_1_AC_joint_XX=13884;gnomADv4_1_AC_joint_XY=11570;gnomADv4_1_AF_grpmax_joint=0.467593;gnomADv4_1_AF_joint=0.350374;gnomADv4_1_AF_joint_XX=0.347482;gnomADv4_1_AF_joint_XY=0.353909;gnomADv4_1_AN_grpmax_joint=2376;gnomADv4_1_AN_joint=72648;gnomADv4_1_AN_joint_XX=39956;gnomADv4_1_AN_joint_XY=32692;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1395;gnomADv4_1_nhomalt_joint_XX=713;gnomADv4_1_nhomalt_joint_XY=682;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29306149 chr22_29306149_T_C T C 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=4.351;CADD_Rawscore=0.3965;CSQ=C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs174761|874|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||T|T||||chr22:g.29306149T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||||||||||rs174761|469|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||T|T||||chr22:g.29306149T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||||||||||rs174761|501|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||T|T||||chr22:g.29306149T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs174761|909|1||HGNC|HGNC:16955|4||||||||Ensembl||T|T||||chr22:g.29306149T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs174761|4130|1||HGNC|HGNC:16955|2||||||||Ensembl||T|T||||chr22:g.29306149T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs174761|892|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||T|T||||chr22:g.29306149T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs174761|909|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29306149T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||||||||||rs174761|501|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29306149T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs174761|909|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29306149T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs174761|903|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29306149T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.118-6314A>G|||||||rs174761||-1||||||||||||Ensembl||T|T||||chr22:g.29306149T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||1/1|ENST00000780181.1:n.226+317A>G|||||||rs174761||-1||||||||||||Ensembl||T|T||||chr22:g.29306149T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs174761|874|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||T|T||||chr22:g.29306149T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||||||||||rs174761|501|1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||T|T||||chr22:g.29306149T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs174761|874|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||T|T||||chr22:g.29306149T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs174761|874|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||T|T||||chr22:g.29306149T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs174761|874|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||T|T||||chr22:g.29306149T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs174761|874|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||T|T||||chr22:g.29306149T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||||||||||rs174761|501|1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||T|T||||chr22:g.29306149T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000406549,ENST00000416823,ENST00000428622,ENST00000487341,ENST00000491016,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,ENST00000780181,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006478.5,NM_152236.3,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,ENSG00000301612,10634,10634,10634,10634,10634,10634,10634;VEP_SYMBOL=GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=95788;gnomADv4_1_AC_joint_XX=49267;gnomADv4_1_AC_joint_XY=46521;gnomADv4_1_AF_grpmax_joint=0.80198;gnomADv4_1_AF_joint=0.629662;gnomADv4_1_AF_joint_XX=0.633464;gnomADv4_1_AF_joint_XY=0.625686;gnomADv4_1_AN_grpmax_joint=41516;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31159;gnomADv4_1_nhomalt_joint_XX=16109;gnomADv4_1_nhomalt_joint_XY=15050;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29306664 chr22_29306664_C_A C A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=12.36;CADD_Rawscore=1.22192;CSQ=A|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs1894414|359|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||C|C||||chr22:g.29306664C>A|||||||||||||,A|5_prime_UTR_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding|1/3||ENST00000416823.1:c.-284C>A||47|||||rs1894414||1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||C|C||||chr22:g.29306664C>A|||||||||0|0|2||,A|5_prime_UTR_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding|1/2||ENST00000428622.1:c.-125C>A||15|||||rs1894414||1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||C|C||||chr22:g.29306664C>A|||||||||0|0|0||,A|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs1894414|394|1||HGNC|HGNC:16955|4||||||||Ensembl||C|C||||chr22:g.29306664C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs1894414|3615|1||HGNC|HGNC:16955|2||||||||Ensembl||C|C||||chr22:g.29306664C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs1894414|377|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||C|C||||chr22:g.29306664C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs1894414|394|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||C|C||||chr22:g.29306664C>A|||||||||||||,A|5_prime_UTR_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding|1/6||ENST00000616432.5:c.-509C>A||15|||||rs1894414||1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||C|C||||chr22:g.29306664C>A|||||||||0|0|2||,A|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs1894414|394|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||C|C||||chr22:g.29306664C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs1894414|388|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||C|C||||chr22:g.29306664C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.118-6829G>T|||||||rs1894414||-1||||||||||||Ensembl||C|C||||chr22:g.29306664C>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA|1/2||ENST00000780181.1:n.28G>T||28|||||rs1894414||-1||||||||||||Ensembl||C|C||||chr22:g.29306664C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs1894414|359|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||C|C||||chr22:g.29306664C>A|||||||||||||,A|5_prime_UTR_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding|1/6||NM_001362985.3:c.-509C>A||15|||||rs1894414||1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||C|C||||chr22:g.29306664C>A|||||||||0|0|2||,A|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs1894414|359|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||C|C||||chr22:g.29306664C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs1894414|359|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||C|C||||chr22:g.29306664C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs1894414|359|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||C|C||||chr22:g.29306664C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs1894414|359|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||C|C||||chr22:g.29306664C>A|||||||||||||,A|5_prime_UTR_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding|1/6||XM_011529825.1:c.-125C>A||15|||||rs1894414||1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||C|C||||chr22:g.29306664C>A|||||||||0|0|0||;SpliceAI=A|GAS2L1|0.00|0.00|0.00|0.00|18|-23|25|-36;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000406549,ENST00000416823,ENST00000428622,ENST00000487341,ENST00000491016,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,ENST00000780181,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006478.5,NM_152236.3,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,ENSG00000301612,10634,10634,10634,10634,10634,10634,10634;VEP_SYMBOL=GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1;VEP_existing_InFrame_oORFs=.,0,0,.,.,.,.,0,.,.,.,.,.,0,.,.,.,.,0;VEP_existing_OutOfFrame_oORFs=.,0,0,.,.,.,.,0,.,.,.,.,.,0,.,.,.,.,0;VEP_existing_uORFs=.,2,0,.,.,.,.,2,.,.,.,.,.,2,.,.,.,.,0;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=127358;gnomADv4_1_AC_joint_XX=64811;gnomADv4_1_AC_joint_XY=62547;gnomADv4_1_AF_grpmax_joint=0.958075;gnomADv4_1_AF_joint=0.83655;gnomADv4_1_AF_joint_XX=0.83326;gnomADv4_1_AF_joint_XY=0.839985;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152242;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=53499;gnomADv4_1_nhomalt_joint_XX=27072;gnomADv4_1_nhomalt_joint_XY=26427;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29306758 chr22_29306758_G_C G C 20 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=20;CADD_PHREDscore=4.566;CADD_Rawscore=0.415906;CSQ=C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs2301585|265|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||G|G||||chr22:g.29306758G>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding|1/3||ENST00000416823.1:c.-190G>C||141|||||rs2301585||1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||G|G||||chr22:g.29306758G>C|||||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding|1/2||ENST00000428622.1:c.-31G>C||109|||||rs2301585||1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||G|G||||chr22:g.29306758G>C|||||||||0|0|0||,C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs2301585|300|1||HGNC|HGNC:16955|4||||||||Ensembl||G|G||||chr22:g.29306758G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs2301585|3521|1||HGNC|HGNC:16955|2||||||||Ensembl||G|G||||chr22:g.29306758G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs2301585|283|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||G|G||||chr22:g.29306758G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs2301585|300|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||G|G||||chr22:g.29306758G>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding|1/6||ENST00000616432.5:c.-415G>C||109|||||rs2301585||1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||G|G||||chr22:g.29306758G>C|||||||||0|0|2||,C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs2301585|300|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||G|G||||chr22:g.29306758G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs2301585|294|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||G|G||||chr22:g.29306758G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.118-6923C>G|||||||rs2301585||-1||||||||||||Ensembl||G|G||||chr22:g.29306758G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs2301585|67|-1||||||||||||Ensembl||G|G||||chr22:g.29306758G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs2301585|265|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||G|G||||chr22:g.29306758G>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding|1/6||NM_001362985.3:c.-415G>C||109|||||rs2301585||1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||G|G||||chr22:g.29306758G>C|||||||||0|0|2||,C|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs2301585|265|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||G|G||||chr22:g.29306758G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs2301585|265|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||G|G||||chr22:g.29306758G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs2301585|265|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||G|G||||chr22:g.29306758G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs2301585|265|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||G|G||||chr22:g.29306758G>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding|1/6||XM_011529825.1:c.-31G>C||109|||||rs2301585||1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||G|G||||chr22:g.29306758G>C|||||||||0|0|0||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FM3Z|promoter||||||||||rs2301585|||||||||||||||||||||chr22:g.29306758G>C|||||||||||||;SpliceAI=C|GAS2L1|0.00|0.00|0.00|0.00|3|0|-20|11;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000406549,ENST00000416823,ENST00000428622,ENST00000487341,ENST00000491016,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,ENST00000780181,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006478.5,NM_152236.3,XM_011529825.1,ENSR22_9FM3Z;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,ENSG00000301612,10634,10634,10634,10634,10634,10634,10634,.;VEP_SYMBOL=GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.;VEP_existing_InFrame_oORFs=.,0,0,.,.,.,.,0,.,.,.,.,.,0,.,.,.,.,0,.;VEP_existing_OutOfFrame_oORFs=.,0,0,.,.,.,.,0,.,.,.,.,.,0,.,.,.,.,0,.;VEP_existing_uORFs=.,2,0,.,.,.,.,2,.,.,.,.,.,2,.,.,.,.,0,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53682;gnomADv4_1_AC_joint_XX=27124;gnomADv4_1_AC_joint_XY=26558;gnomADv4_1_AF_grpmax_joint=0.483264;gnomADv4_1_AF_joint=0.35279;gnomADv4_1_AF_joint_XX=0.348772;gnomADv4_1_AF_joint_XY=0.356991;gnomADv4_1_AN_grpmax_joint=15296;gnomADv4_1_AN_joint=152164;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=10237;gnomADv4_1_nhomalt_joint_XX=5108;gnomADv4_1_nhomalt_joint_XY=5129;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29306920 chr22_29306920_A_T A T 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=6.077;CADD_Rawscore=0.561023;CSQ=T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs2301586|103|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||A|A||||chr22:g.29306920A>T|||1||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||1/2|ENST00000416823.1:c.-178-75A>T|||||||rs2301586||1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||A|A||||chr22:g.29306920A>T|||1||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||1/1|ENST00000428622.1:c.-20+151A>T|||||||rs2301586||1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||A|A||||chr22:g.29306920A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs2301586|138|1||HGNC|HGNC:16955|4||||||||Ensembl||A|A||||chr22:g.29306920A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs2301586|3359|1||HGNC|HGNC:16955|2||||||||Ensembl||A|A||||chr22:g.29306920A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs2301586|121|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||A|A||||chr22:g.29306920A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs2301586|138|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29306920A>T|||1||||||||||,T|5_prime_UTR_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding|1/6||ENST00000616432.5:c.-253A>T||271|||||rs2301586||1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29306920A>T|||1||||||0|0|2||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs2301586|138|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29306920A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs2301586|132|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29306920A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.118-7085T>A|||||||rs2301586||-1||||||||||||Ensembl||A|A||||chr22:g.29306920A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs2301586|229|-1||||||||||||Ensembl||A|A||||chr22:g.29306920A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs2301586|103|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||A|A||||chr22:g.29306920A>T|||1||||||||||,T|5_prime_UTR_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding|1/6||NM_001362985.3:c.-253A>T||271|||||rs2301586||1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||A|A||||chr22:g.29306920A>T|||1||||||0|0|2||,T|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs2301586|103|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||A|A||||chr22:g.29306920A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs2301586|103|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||A|A||||chr22:g.29306920A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs2301586|103|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||A|A||||chr22:g.29306920A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs2301586|103|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||A|A||||chr22:g.29306920A>T|||1||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||1/5|XM_011529825.1:c.-20+151A>T|||||||rs2301586||1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||A|A||||chr22:g.29306920A>T|||1||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FM3Z|promoter||||||||||rs2301586|||||||||||||||||||||chr22:g.29306920A>T|||1||||||||||;SpliceAI=T|GAS2L1|0.00|0.00|0.00|0.00|7|27|7|43;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000406549,ENST00000416823,ENST00000428622,ENST00000487341,ENST00000491016,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,ENST00000780181,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006478.5,NM_152236.3,XM_011529825.1,ENSR22_9FM3Z;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,ENSG00000301612,10634,10634,10634,10634,10634,10634,10634,.;VEP_SYMBOL=GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,0,.,.,.,.,.,0,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,0,.,.,.,.,.,0,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,2,.,.,.,.,.,2,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54433;gnomADv4_1_AC_joint_XX=27531;gnomADv4_1_AC_joint_XY=26902;gnomADv4_1_AF_grpmax_joint=0.655612;gnomADv4_1_AF_joint=0.358508;gnomADv4_1_AF_joint_XX=0.354644;gnomADv4_1_AF_joint_XY=0.362551;gnomADv4_1_AN_grpmax_joint=5096;gnomADv4_1_AN_joint=151832;gnomADv4_1_AN_joint_XX=77630;gnomADv4_1_AN_joint_XY=74202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10132;gnomADv4_1_nhomalt_joint_XX=5055;gnomADv4_1_nhomalt_joint_XY=5077;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29307419 chr22_29307419_G_C G C 47 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.074;CADD_Rawscore=-0.69452;CSQ=C|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||1/5|ENST00000406549.7:c.-20+266G>C|||||||rs9613859||1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||G|G||||chr22:g.29307419G>C|||||||||||||,C|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||2/2|ENST00000416823.1:c.-20+266G>C|||||||rs9613859||1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||G|G||||chr22:g.29307419G>C|||||||||||||,C|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||1/1|ENST00000428622.1:c.-20+650G>C|||||||rs9613859||1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||G|G||||chr22:g.29307419G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron|2/2||ENST00000487341.1:n.170G>C||170|||||rs9613859||1||HGNC|HGNC:16955|4||||||||Ensembl||G|G||||chr22:g.29307419G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs9613859|2860|1||HGNC|HGNC:16955|2||||||||Ensembl||G|G||||chr22:g.29307419G>C|||||||||||||,C|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||1/4|ENST00000610653.4:c.-20+266G>C|||||||rs9613859||1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||G|G||||chr22:g.29307419G>C|||||||||||||,C|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||1/5|ENST00000611648.2:c.-20+233G>C|||||||rs9613859||1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||G|G||||chr22:g.29307419G>C|||||||||||||,C|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||1/5|ENST00000616432.5:c.-20+266G>C|||||||rs9613859||1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||G|G||||chr22:g.29307419G>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding|1/5||ENST00000618518.3:c.-687G>C||362|||||rs9613859||1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||G|G||||chr22:g.29307419G>C|||||||||0|0|16||,C|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||1/5|ENST00000621062.4:c.-48+266G>C|||||||rs9613859||1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||G|G||||chr22:g.29307419G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.118-7584C>G|||||||rs9613859||-1||||||||||||Ensembl||G|G||||chr22:g.29307419G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs9613859|728|-1||||||||||||Ensembl||G|G||||chr22:g.29307419G>C|||||||||||||,C|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||1/5|NM_001278730.2:c.-20+266G>C|||||||rs9613859||1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||G|G||||chr22:g.29307419G>C|||||||||||||,C|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||1/5|NM_001362985.3:c.-20+266G>C|||||||rs9613859||1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||G|G||||chr22:g.29307419G>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding|1/5||NM_001395196.1:c.-687G>C||397|||||rs9613859||1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||G|G||||chr22:g.29307419G>C|||||||||0|0|16||,C|5_prime_UTR_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding|2/6||NM_001395197.1:c.-687G>C||205|||||rs9613859||1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||G|G||||chr22:g.29307419G>C|||||||||0|0|15||,C|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||1/5|NM_006478.5:c.-48+266G>C|||||||rs9613859||1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||G|G||||chr22:g.29307419G>C|||||||||||||,C|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||1/5|NM_152236.3:c.-20+233G>C|||||||rs9613859||1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||G|G||||chr22:g.29307419G>C|||||||||||||,C|intron_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||1/5|XM_011529825.1:c.-20+650G>C|||||||rs9613859||1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||G|G||||chr22:g.29307419G>C|||||||||||||;SpliceAI=C|GAS2L1|0.00|0.00|0.00|0.00|43|-49|43|42;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000406549,ENST00000416823,ENST00000428622,ENST00000487341,ENST00000491016,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,ENST00000780181,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006478.5,NM_152236.3,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,ENSG00000301612,10634,10634,10634,10634,10634,10634,10634;VEP_SYMBOL=GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,0,.,.,.,.,.,0,0,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,0,.,.,.,.,.,0,0,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,16,.,.,.,.,.,16,15,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54443;gnomADv4_1_AC_joint_XX=27505;gnomADv4_1_AC_joint_XY=26938;gnomADv4_1_AF_grpmax_joint=0.654757;gnomADv4_1_AF_joint=0.357604;gnomADv4_1_AF_joint_XX=0.353598;gnomADv4_1_AF_joint_XY=0.361788;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152244;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74458;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10134;gnomADv4_1_nhomalt_joint_XX=5049;gnomADv4_1_nhomalt_joint_XY=5085;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29308135 chr22_29308135_C_T C T 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=9.062;CADD_Rawscore=0.880118;CSQ=T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000216101|protein_coding||||||||||rs11090564|4798|-1||HGNC|HGNC:16954|1|CCDS13854.1|ENSP00000216101|Q92737.180||UPI00001348FD|Q92737-1||Ensembl||C|C||||chr22:g.29308135C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000401450|protein_coding||||||||||rs11090564|4798|-1||HGNC|HGNC:16954|2||ENSP00000386095|Q92737.180||UPI000020749D|Q92737-2||Ensembl||C|C||||chr22:g.29308135C>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding|2/6||ENST00000406549.7%3Ac.30C>T|ENSP00000383995.3%3Ap.Gly10%3D|180|30|10|G|ggC/ggT|rs11090564||1||HGNC|HGNC%3A16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||C|C||||chr22%3Ag.29308135C>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding|3/3||ENST00000416823.1%3Ac.30C>T|ENSP00000395988.1%3Ap.Gly10%3D|360|30|10|G|ggC/ggT|rs11090564||1|cds_end_NF|HGNC|HGNC%3A16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||C|C||||chr22%3Ag.29308135C>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding|2/2||ENST00000428622.1%3Ac.30C>T|ENSP00000388645.1%3Ap.Gly10%3D|169|30|10|G|ggC/ggT|rs11090564||1|cds_end_NF|HGNC|HGNC%3A16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||C|C||||chr22%3Ag.29308135C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs11090564|336|1||HGNC|HGNC:16955|4||||||||Ensembl||C|C||||chr22:g.29308135C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs11090564|2144|1||HGNC|HGNC:16955|2||||||||Ensembl||C|C||||chr22:g.29308135C>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding|2/5||ENST00000610653.4%3Ac.30C>T|ENSP00000484130.1%3Ap.Gly10%3D|162|30|10|G|ggC/ggT|rs11090564||1||HGNC|HGNC%3A16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||C|C||||chr22%3Ag.29308135C>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding|2/6||ENST00000611648.2%3Ac.30C>T|ENSP00000479551.1%3Ap.Gly10%3D|178|30|10|G|ggC/ggT|rs11090564||1||HGNC|HGNC%3A16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||C|C||||chr22%3Ag.29308135C>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding|2/6||ENST00000616432.5%3Ac.30C>T|ENSP00000478908.1%3Ap.Gly10%3D|553|30|10|G|ggC/ggT|rs11090564||1||HGNC|HGNC%3A16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||C|C||||chr22%3Ag.29308135C>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding|1/5||ENST00000618518.3%3Ac.30C>T|ENSP00000481012.1%3Ap.Gly10%3D|1078|30|10|G|ggC/ggT|rs11090564||1||HGNC|HGNC%3A16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||C|C||||chr22%3Ag.29308135C>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding|2/6||ENST00000621062.4%3Ac.30C>T|ENSP00000478343.1%3Ap.Gly10%3D|179|30|10|G|ggC/ggT|rs11090564||1||HGNC|HGNC%3A16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||C|C||||chr22%3Ag.29308135C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.117+7730G>A|||||||rs11090564||-1||||||||||||Ensembl||C|C||||chr22:g.29308135C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs11090564|1444|-1||||||||||||Ensembl||C|C||||chr22:g.29308135C>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding|2/6||NM_001278730.2%3Ac.30C>T|NP_001265659.1%3Ap.Gly10%3D|180|30|10|G|ggC/ggT|rs11090564||1||EntrezGene|HGNC%3A16955|||NP_001265659.1||||||RefSeq||C|C||||chr22%3Ag.29308135C>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding|2/6||NM_001362985.3%3Ac.30C>T|NP_001349914.1%3Ap.Gly10%3D|553|30|10|G|ggC/ggT|rs11090564||1||EntrezGene|HGNC%3A16955|||NP_001349914.1||||||RefSeq||C|C||||chr22%3Ag.29308135C>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding|1/5||NM_001395196.1%3Ac.30C>T|NP_001382125.1%3Ap.Gly10%3D|1113|30|10|G|ggC/ggT|rs11090564||1||EntrezGene|HGNC%3A16955|||NP_001382125.1||||||RefSeq||C|C||||chr22%3Ag.29308135C>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding|2/6||NM_001395197.1%3Ac.30C>T|NP_001382126.1%3Ap.Gly10%3D|921|30|10|G|ggC/ggT|rs11090564||1||EntrezGene|HGNC%3A16955|||NP_001382126.1||||||RefSeq||C|C||||chr22%3Ag.29308135C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|NM_006477.5|protein_coding||||||||||rs11090564|4798|-1||EntrezGene|HGNC:16954|||NP_006468.1||||||RefSeq||C|C||||chr22:g.29308135C>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|10634|Transcript|NM_006478.5|protein_coding|2/6||NM_006478.5%3Ac.30C>T|NP_006469.2%3Ap.Gly10%3D|208|30|10|G|ggC/ggT|rs11090564||1||EntrezGene|HGNC%3A16955|||NP_006469.2||||||RefSeq||C|C||||chr22%3Ag.29308135C>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|10634|Transcript|NM_152236.3|protein_coding|2/6||NM_152236.3%3Ac.30C>T|NP_689422.1%3Ap.Gly10%3D|213|30|10|G|ggC/ggT|rs11090564||1||EntrezGene|HGNC%3A16955|||NP_689422.1||||||RefSeq||C|C||||chr22%3Ag.29308135C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding||||||||||rs11090564|4798|-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||C|C||||chr22:g.29308135C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs11090564|4798|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||C|C||||chr22:g.29308135C>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding|2/6||XM_011529825.1%3Ac.30C>T|XP_011528127.1%3Ap.Gly10%3D|169|30|10|G|ggC/ggT|rs11090564||1||EntrezGene|HGNC%3A16955|||XP_011528127.1||||||RefSeq||C|C||||chr22%3Ag.29308135C>T|||||||||||||;SpliceAI=T|GAS2L1|0.00|0.02|0.00|0.00|-22|-48|-2|-38;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216101,ENST00000401450,ENST00000406549,ENST00000416823,ENST00000428622,ENST00000487341,ENST00000491016,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,ENST00000780181,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006477.5,NM_006478.5,NM_152236.3,XM_011529822.1,XM_011529823.2,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100276,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,ENSG00000301612,10634,10634,10634,10634,10633,10634,10634,10633,10633,10634;VEP_SYMBOL=RASL10A,RASL10A,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,RASL10A,GAS2L1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=580507;gnomADv4_1_AC_joint_XX=292876;gnomADv4_1_AC_joint_XY=287631;gnomADv4_1_AF_grpmax_joint=0.483193;gnomADv4_1_AF_joint=0.372364;gnomADv4_1_AF_joint_XX=0.369506;gnomADv4_1_AF_joint_XY=0.37532;gnomADv4_1_AN_grpmax_joint=57120;gnomADv4_1_AN_joint=1558976;gnomADv4_1_AN_joint_XX=792614;gnomADv4_1_AN_joint_XY=766362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=110862;gnomADv4_1_nhomalt_joint_XX=55451;gnomADv4_1_nhomalt_joint_XY=55411;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29309937 chr22_29309937_A_G A G 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.715;CADD_Rawscore=0.123362;CSQ=G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000216101|protein_coding||||||||||rs6006090|2996|-1||HGNC|HGNC:16954|1|CCDS13854.1|ENSP00000216101|Q92737.180||UPI00001348FD|Q92737-1||Ensembl||A|A||||chr22:g.29309937A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000401450|protein_coding||||||||||rs6006090|2996|-1||HGNC|HGNC:16954|2||ENSP00000386095|Q92737.180||UPI000020749D|Q92737-2||Ensembl||A|A||||chr22:g.29309937A>G|||||||||||||,G|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||2/5|ENST00000406549.7:c.634-502A>G|||||||rs6006090||1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||A|A||||chr22:g.29309937A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||||||||||rs6006090|1417|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||A|A||||chr22:g.29309937A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||||||||||rs6006090|1402|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||A|A||||chr22:g.29309937A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000474590|protein_coding_CDS_not_defined||||||||||rs6006090|3598|-1||HGNC|HGNC:16954|2||||||||Ensembl||A|A||||chr22:g.29309937A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs6006090|2138|1||HGNC|HGNC:16955|4||||||||Ensembl||A|A||||chr22:g.29309937A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs6006090|342|1||HGNC|HGNC:16955|2||||||||Ensembl||A|A||||chr22:g.29309937A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||||||||||rs6006090|3566|-1||HGNC|HGNC:16954|5||||||||Ensembl||A|A||||chr22:g.29309937A>G|||||||||||||,G|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||2/4|ENST00000610653.4:c.634-502A>G|||||||rs6006090||1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||A|A||||chr22:g.29309937A>G|||||||||||||,G|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||2/5|ENST00000611648.2:c.634-502A>G|||||||rs6006090||1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29309937A>G|||||||||||||,G|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||2/5|ENST00000616432.5:c.634-502A>G|||||||rs6006090||1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29309937A>G|||||||||||||,G|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||1/4|ENST00000618518.3:c.634-502A>G|||||||rs6006090||1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29309937A>G|||||||||||||,G|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||2/5|ENST00000621062.4:c.634-502A>G|||||||rs6006090||1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29309937A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.117+5928T>C|||||||rs6006090||-1||||||||||||Ensembl||A|A||||chr22:g.29309937A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs6006090|3246|-1||||||||||||Ensembl||A|A||||chr22:g.29309937A>G|||||||||||||,G|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||2/5|NM_001278730.2:c.634-502A>G|||||||rs6006090||1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||A|A||||chr22:g.29309937A>G|||||||||||||,G|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||2/5|NM_001362985.3:c.634-502A>G|||||||rs6006090||1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||A|A||||chr22:g.29309937A>G|||||||||||||,G|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||1/4|NM_001395196.1:c.634-502A>G|||||||rs6006090||1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||A|A||||chr22:g.29309937A>G|||||||||||||,G|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||2/5|NM_001395197.1:c.634-502A>G|||||||rs6006090||1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||A|A||||chr22:g.29309937A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|NM_006477.5|protein_coding||||||||||rs6006090|2996|-1||EntrezGene|HGNC:16954|||NP_006468.1||||||RefSeq||A|A||||chr22:g.29309937A>G|||||||||||||,G|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||2/5|NM_006478.5:c.634-502A>G|||||||rs6006090||1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||A|A||||chr22:g.29309937A>G|||||||||||||,G|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||2/5|NM_152236.3:c.634-502A>G|||||||rs6006090||1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||A|A||||chr22:g.29309937A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding||||||||||rs6006090|2996|-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||A|A||||chr22:g.29309937A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs6006090|2996|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||A|A||||chr22:g.29309937A>G|||||||||||||,G|intron_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||2/5|XM_011529825.1:c.634-502A>G|||||||rs6006090||1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||A|A||||chr22:g.29309937A>G|||||||||||||;SpliceAI=G|GAS2L1|0.00|0.00|0.00|0.00|10|-8|-28|33;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216101,ENST00000401450,ENST00000406549,ENST00000416823,ENST00000428622,ENST00000474590,ENST00000487341,ENST00000491016,ENST00000608559,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,ENST00000780181,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006477.5,NM_006478.5,NM_152236.3,XM_011529822.1,XM_011529823.2,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100276,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,ENSG00000301612,10634,10634,10634,10634,10633,10634,10634,10633,10633,10634;VEP_SYMBOL=RASL10A,RASL10A,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,RASL10A,GAS2L1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70667;gnomADv4_1_AC_joint_XX=36157;gnomADv4_1_AC_joint_XY=34510;gnomADv4_1_AF_grpmax_joint=0.528861;gnomADv4_1_AF_joint=0.465135;gnomADv4_1_AF_joint_XX=0.465497;gnomADv4_1_AF_joint_XY=0.464756;gnomADv4_1_AN_grpmax_joint=15280;gnomADv4_1_AN_joint=151928;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=16655;gnomADv4_1_nhomalt_joint_XX=8528;gnomADv4_1_nhomalt_joint_XY=8127;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29310254 chr22_29310254_A_T A T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.485;CADD_Rawscore=0.319349;CSQ=T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000216101|protein_coding||||||||||rs142333573|2679|-1||HGNC|HGNC:16954|1|CCDS13854.1|ENSP00000216101|Q92737.180||UPI00001348FD|Q92737-1||Ensembl||A|A||||chr22:g.29310254A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000401450|protein_coding||||||||||rs142333573|2679|-1||HGNC|HGNC:16954|2||ENSP00000386095|Q92737.180||UPI000020749D|Q92737-2||Ensembl||A|A||||chr22:g.29310254A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||2/5|ENST00000406549.7:c.634-185A>T|||||||rs142333573||1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||A|A||||chr22:g.29310254A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||||||||||rs142333573|1734|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||A|A||||chr22:g.29310254A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||||||||||rs142333573|1719|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||A|A||||chr22:g.29310254A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000474590|protein_coding_CDS_not_defined||||||||||rs142333573|3281|-1||HGNC|HGNC:16954|2||||||||Ensembl||A|A||||chr22:g.29310254A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs142333573|2455|1||HGNC|HGNC:16955|4||||||||Ensembl||A|A||||chr22:g.29310254A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs142333573|25|1||HGNC|HGNC:16955|2||||||||Ensembl||A|A||||chr22:g.29310254A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||||||||||rs142333573|3249|-1||HGNC|HGNC:16954|5||||||||Ensembl||A|A||||chr22:g.29310254A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||2/4|ENST00000610653.4:c.634-185A>T|||||||rs142333573||1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||A|A||||chr22:g.29310254A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||2/5|ENST00000611648.2:c.634-185A>T|||||||rs142333573||1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29310254A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||2/5|ENST00000616432.5:c.634-185A>T|||||||rs142333573||1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29310254A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||1/4|ENST00000618518.3:c.634-185A>T|||||||rs142333573||1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29310254A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||2/5|ENST00000621062.4:c.634-185A>T|||||||rs142333573||1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29310254A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.117+5611T>A|||||||rs142333573||-1||||||||||||Ensembl||A|A||||chr22:g.29310254A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs142333573|3563|-1||||||||||||Ensembl||A|A||||chr22:g.29310254A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||2/5|NM_001278730.2:c.634-185A>T|||||||rs142333573||1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||A|A||||chr22:g.29310254A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||2/5|NM_001362985.3:c.634-185A>T|||||||rs142333573||1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||A|A||||chr22:g.29310254A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||1/4|NM_001395196.1:c.634-185A>T|||||||rs142333573||1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||A|A||||chr22:g.29310254A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||2/5|NM_001395197.1:c.634-185A>T|||||||rs142333573||1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||A|A||||chr22:g.29310254A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|NM_006477.5|protein_coding||||||||||rs142333573|2679|-1||EntrezGene|HGNC:16954|||NP_006468.1||||||RefSeq||A|A||||chr22:g.29310254A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||2/5|NM_006478.5:c.634-185A>T|||||||rs142333573||1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||A|A||||chr22:g.29310254A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||2/5|NM_152236.3:c.634-185A>T|||||||rs142333573||1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||A|A||||chr22:g.29310254A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding||||||||||rs142333573|2679|-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||A|A||||chr22:g.29310254A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs142333573|2679|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||A|A||||chr22:g.29310254A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||2/5|XM_011529825.1:c.634-185A>T|||||||rs142333573||1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||A|A||||chr22:g.29310254A>T|||||||||||||;SpliceAI=T|GAS2L1|0.00|0.00|0.00|0.00|3|29|-2|-4;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216101,ENST00000401450,ENST00000406549,ENST00000416823,ENST00000428622,ENST00000474590,ENST00000487341,ENST00000491016,ENST00000608559,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,ENST00000780181,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006477.5,NM_006478.5,NM_152236.3,XM_011529822.1,XM_011529823.2,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100276,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,ENSG00000301612,10634,10634,10634,10634,10633,10634,10634,10633,10633,10634;VEP_SYMBOL=RASL10A,RASL10A,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,RASL10A,GAS2L1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49856;gnomADv4_1_AC_joint_XX=24283;gnomADv4_1_AC_joint_XY=25573;gnomADv4_1_AF_grpmax_joint=0.273855;gnomADv4_1_AF_joint=0.140187;gnomADv4_1_AF_joint_XX=0.13686;gnomADv4_1_AF_joint_XY=0.143501;gnomADv4_1_AN_grpmax_joint=9516;gnomADv4_1_AN_joint=355638;gnomADv4_1_AN_joint_XX=177430;gnomADv4_1_AN_joint_XY=178208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3978;gnomADv4_1_nhomalt_joint_XX=1875;gnomADv4_1_nhomalt_joint_XY=2103;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29310262 chr22_29310262_A_T A T 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=2.277;CADD_Rawscore=0.198426;CSQ=T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000216101|protein_coding||||||||||rs12158110|2671|-1||HGNC|HGNC:16954|1|CCDS13854.1|ENSP00000216101|Q92737.180||UPI00001348FD|Q92737-1||Ensembl||A|A||||chr22:g.29310262A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000401450|protein_coding||||||||||rs12158110|2671|-1||HGNC|HGNC:16954|2||ENSP00000386095|Q92737.180||UPI000020749D|Q92737-2||Ensembl||A|A||||chr22:g.29310262A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||2/5|ENST00000406549.7:c.634-177A>T|||||||rs12158110||1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||A|A||||chr22:g.29310262A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||||||||||rs12158110|1742|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||A|A||||chr22:g.29310262A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||||||||||rs12158110|1727|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||A|A||||chr22:g.29310262A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000474590|protein_coding_CDS_not_defined||||||||||rs12158110|3273|-1||HGNC|HGNC:16954|2||||||||Ensembl||A|A||||chr22:g.29310262A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs12158110|2463|1||HGNC|HGNC:16955|4||||||||Ensembl||A|A||||chr22:g.29310262A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs12158110|17|1||HGNC|HGNC:16955|2||||||||Ensembl||A|A||||chr22:g.29310262A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||||||||||rs12158110|3241|-1||HGNC|HGNC:16954|5||||||||Ensembl||A|A||||chr22:g.29310262A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||2/4|ENST00000610653.4:c.634-177A>T|||||||rs12158110||1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||A|A||||chr22:g.29310262A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||2/5|ENST00000611648.2:c.634-177A>T|||||||rs12158110||1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29310262A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||2/5|ENST00000616432.5:c.634-177A>T|||||||rs12158110||1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29310262A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||1/4|ENST00000618518.3:c.634-177A>T|||||||rs12158110||1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29310262A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||2/5|ENST00000621062.4:c.634-177A>T|||||||rs12158110||1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29310262A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.117+5603T>A|||||||rs12158110||-1||||||||||||Ensembl||A|A||||chr22:g.29310262A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs12158110|3571|-1||||||||||||Ensembl||A|A||||chr22:g.29310262A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||2/5|NM_001278730.2:c.634-177A>T|||||||rs12158110||1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||A|A||||chr22:g.29310262A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||2/5|NM_001362985.3:c.634-177A>T|||||||rs12158110||1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||A|A||||chr22:g.29310262A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||1/4|NM_001395196.1:c.634-177A>T|||||||rs12158110||1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||A|A||||chr22:g.29310262A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||2/5|NM_001395197.1:c.634-177A>T|||||||rs12158110||1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||A|A||||chr22:g.29310262A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|NM_006477.5|protein_coding||||||||||rs12158110|2671|-1||EntrezGene|HGNC:16954|||NP_006468.1||||||RefSeq||A|A||||chr22:g.29310262A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||2/5|NM_006478.5:c.634-177A>T|||||||rs12158110||1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||A|A||||chr22:g.29310262A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||2/5|NM_152236.3:c.634-177A>T|||||||rs12158110||1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||A|A||||chr22:g.29310262A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding||||||||||rs12158110|2671|-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||A|A||||chr22:g.29310262A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs12158110|2671|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||A|A||||chr22:g.29310262A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||2/5|XM_011529825.1:c.634-177A>T|||||||rs12158110||1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||A|A||||chr22:g.29310262A>T|||||||||||||;SpliceAI=T|GAS2L1|0.00|0.00|0.00|0.00|21|39|-2|-12;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216101,ENST00000401450,ENST00000406549,ENST00000416823,ENST00000428622,ENST00000474590,ENST00000487341,ENST00000491016,ENST00000608559,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,ENST00000780181,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006477.5,NM_006478.5,NM_152236.3,XM_011529822.1,XM_011529823.2,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100276,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,ENSG00000301612,10634,10634,10634,10634,10633,10634,10634,10633,10633,10634;VEP_SYMBOL=RASL10A,RASL10A,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,RASL10A,GAS2L1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10770;gnomADv4_1_AC_joint_XX=5658;gnomADv4_1_AC_joint_XY=5112;gnomADv4_1_AF_grpmax_joint=0.151906;gnomADv4_1_AF_joint=0.0279053;gnomADv4_1_AF_joint_XX=0.0294154;gnomADv4_1_AF_joint_XY=0.026405;gnomADv4_1_AN_grpmax_joint=46542;gnomADv4_1_AN_joint=385948;gnomADv4_1_AN_joint_XX=192348;gnomADv4_1_AN_joint_XY=193600;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=571;gnomADv4_1_nhomalt_joint_XX=303;gnomADv4_1_nhomalt_joint_XY=268;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29310267 chr22_29310267_A_T A T 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=29;CADD_PHREDscore=0.741;CADD_Rawscore=-0.094377;CSQ=T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000216101|protein_coding||||||||||rs80062417|2666|-1||HGNC|HGNC:16954|1|CCDS13854.1|ENSP00000216101|Q92737.180||UPI00001348FD|Q92737-1||Ensembl||A|A||||chr22:g.29310267A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000401450|protein_coding||||||||||rs80062417|2666|-1||HGNC|HGNC:16954|2||ENSP00000386095|Q92737.180||UPI000020749D|Q92737-2||Ensembl||A|A||||chr22:g.29310267A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||2/5|ENST00000406549.7:c.634-172A>T|||||||rs80062417||1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||A|A||||chr22:g.29310267A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||||||||||rs80062417|1747|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||A|A||||chr22:g.29310267A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||||||||||rs80062417|1732|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||A|A||||chr22:g.29310267A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000474590|protein_coding_CDS_not_defined||||||||||rs80062417|3268|-1||HGNC|HGNC:16954|2||||||||Ensembl||A|A||||chr22:g.29310267A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs80062417|2468|1||HGNC|HGNC:16955|4||||||||Ensembl||A|A||||chr22:g.29310267A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs80062417|12|1||HGNC|HGNC:16955|2||||||||Ensembl||A|A||||chr22:g.29310267A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||||||||||rs80062417|3236|-1||HGNC|HGNC:16954|5||||||||Ensembl||A|A||||chr22:g.29310267A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||2/4|ENST00000610653.4:c.634-172A>T|||||||rs80062417||1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||A|A||||chr22:g.29310267A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||2/5|ENST00000611648.2:c.634-172A>T|||||||rs80062417||1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29310267A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||2/5|ENST00000616432.5:c.634-172A>T|||||||rs80062417||1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29310267A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||1/4|ENST00000618518.3:c.634-172A>T|||||||rs80062417||1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29310267A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||2/5|ENST00000621062.4:c.634-172A>T|||||||rs80062417||1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29310267A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.117+5598T>A|||||||rs80062417||-1||||||||||||Ensembl||A|A||||chr22:g.29310267A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs80062417|3576|-1||||||||||||Ensembl||A|A||||chr22:g.29310267A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||2/5|NM_001278730.2:c.634-172A>T|||||||rs80062417||1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||A|A||||chr22:g.29310267A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||2/5|NM_001362985.3:c.634-172A>T|||||||rs80062417||1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||A|A||||chr22:g.29310267A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||1/4|NM_001395196.1:c.634-172A>T|||||||rs80062417||1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||A|A||||chr22:g.29310267A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||2/5|NM_001395197.1:c.634-172A>T|||||||rs80062417||1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||A|A||||chr22:g.29310267A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|NM_006477.5|protein_coding||||||||||rs80062417|2666|-1||EntrezGene|HGNC:16954|||NP_006468.1||||||RefSeq||A|A||||chr22:g.29310267A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||2/5|NM_006478.5:c.634-172A>T|||||||rs80062417||1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||A|A||||chr22:g.29310267A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||2/5|NM_152236.3:c.634-172A>T|||||||rs80062417||1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||A|A||||chr22:g.29310267A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding||||||||||rs80062417|2666|-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||A|A||||chr22:g.29310267A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs80062417|2666|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||A|A||||chr22:g.29310267A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||2/5|XM_011529825.1:c.634-172A>T|||||||rs80062417||1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||A|A||||chr22:g.29310267A>T|||||||||||||;SpliceAI=T|GAS2L1|0.00|0.00|0.00|0.00|16|-22|16|19;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216101,ENST00000401450,ENST00000406549,ENST00000416823,ENST00000428622,ENST00000474590,ENST00000487341,ENST00000491016,ENST00000608559,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,ENST00000780181,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006477.5,NM_006478.5,NM_152236.3,XM_011529822.1,XM_011529823.2,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100276,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,ENSG00000301612,10634,10634,10634,10634,10633,10634,10634,10633,10633,10634;VEP_SYMBOL=RASL10A,RASL10A,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,RASL10A,GAS2L1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=153098;gnomADv4_1_AC_joint_XX=75957;gnomADv4_1_AC_joint_XY=77141;gnomADv4_1_AF_grpmax_joint=0.505401;gnomADv4_1_AF_joint=0.405596;gnomADv4_1_AF_joint_XX=0.403627;gnomADv4_1_AF_joint_XY=0.407554;gnomADv4_1_AN_grpmax_joint=22772;gnomADv4_1_AN_joint=377464;gnomADv4_1_AN_joint_XX=188186;gnomADv4_1_AN_joint_XY=189278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=31751;gnomADv4_1_nhomalt_joint_XX=15700;gnomADv4_1_nhomalt_joint_XY=16051;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29310268 chr22_29310268_T_A T A 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.588;CADD_Rawscore=-0.152457;CSQ=A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000216101|protein_coding||||||||||rs79162541|2665|-1||HGNC|HGNC:16954|1|CCDS13854.1|ENSP00000216101|Q92737.180||UPI00001348FD|Q92737-1||Ensembl||T|T||||chr22:g.29310268T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000401450|protein_coding||||||||||rs79162541|2665|-1||HGNC|HGNC:16954|2||ENSP00000386095|Q92737.180||UPI000020749D|Q92737-2||Ensembl||T|T||||chr22:g.29310268T>A|||||||||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||2/5|ENST00000406549.7:c.634-171T>A|||||||rs79162541||1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||T|T||||chr22:g.29310268T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||||||||||rs79162541|1748|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||T|T||||chr22:g.29310268T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||||||||||rs79162541|1733|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||T|T||||chr22:g.29310268T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000474590|protein_coding_CDS_not_defined||||||||||rs79162541|3267|-1||HGNC|HGNC:16954|2||||||||Ensembl||T|T||||chr22:g.29310268T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs79162541|2469|1||HGNC|HGNC:16955|4||||||||Ensembl||T|T||||chr22:g.29310268T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs79162541|11|1||HGNC|HGNC:16955|2||||||||Ensembl||T|T||||chr22:g.29310268T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||||||||||rs79162541|3235|-1||HGNC|HGNC:16954|5||||||||Ensembl||T|T||||chr22:g.29310268T>A|||||||||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||2/4|ENST00000610653.4:c.634-171T>A|||||||rs79162541||1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||T|T||||chr22:g.29310268T>A|||||||||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||2/5|ENST00000611648.2:c.634-171T>A|||||||rs79162541||1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29310268T>A|||||||||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||2/5|ENST00000616432.5:c.634-171T>A|||||||rs79162541||1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29310268T>A|||||||||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||1/4|ENST00000618518.3:c.634-171T>A|||||||rs79162541||1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29310268T>A|||||||||||||,A|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||2/5|ENST00000621062.4:c.634-171T>A|||||||rs79162541||1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29310268T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.117+5597A>T|||||||rs79162541||-1||||||||||||Ensembl||T|T||||chr22:g.29310268T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780181|lncRNA||||||||||rs79162541|3577|-1||||||||||||Ensembl||T|T||||chr22:g.29310268T>A|||||||||||||,A|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||2/5|NM_001278730.2:c.634-171T>A|||||||rs79162541||1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||T|T||||chr22:g.29310268T>A|||||||||||||,A|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||2/5|NM_001362985.3:c.634-171T>A|||||||rs79162541||1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||T|T||||chr22:g.29310268T>A|||||||||||||,A|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||1/4|NM_001395196.1:c.634-171T>A|||||||rs79162541||1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||T|T||||chr22:g.29310268T>A|||||||||||||,A|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||2/5|NM_001395197.1:c.634-171T>A|||||||rs79162541||1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||T|T||||chr22:g.29310268T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|NM_006477.5|protein_coding||||||||||rs79162541|2665|-1||EntrezGene|HGNC:16954|||NP_006468.1||||||RefSeq||T|T||||chr22:g.29310268T>A|||||||||||||,A|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||2/5|NM_006478.5:c.634-171T>A|||||||rs79162541||1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||T|T||||chr22:g.29310268T>A|||||||||||||,A|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||2/5|NM_152236.3:c.634-171T>A|||||||rs79162541||1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||T|T||||chr22:g.29310268T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding||||||||||rs79162541|2665|-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||T|T||||chr22:g.29310268T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs79162541|2665|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||T|T||||chr22:g.29310268T>A|||||||||||||,A|intron_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||2/5|XM_011529825.1:c.634-171T>A|||||||rs79162541||1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||T|T||||chr22:g.29310268T>A|||||||||||||;SpliceAI=A|GAS2L1|0.00|0.00|0.00|0.00|15|33|-5|18;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216101,ENST00000401450,ENST00000406549,ENST00000416823,ENST00000428622,ENST00000474590,ENST00000487341,ENST00000491016,ENST00000608559,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,ENST00000780181,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006477.5,NM_006478.5,NM_152236.3,XM_011529822.1,XM_011529823.2,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100276,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,ENSG00000301612,10634,10634,10634,10634,10633,10634,10634,10633,10633,10634;VEP_SYMBOL=RASL10A,RASL10A,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,RASL10A,GAS2L1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=156233;gnomADv4_1_AC_joint_XX=77569;gnomADv4_1_AC_joint_XY=78664;gnomADv4_1_AF_grpmax_joint=0.517392;gnomADv4_1_AF_joint=0.419925;gnomADv4_1_AF_joint_XX=0.417657;gnomADv4_1_AF_joint_XY=0.422185;gnomADv4_1_AN_grpmax_joint=22654;gnomADv4_1_AN_joint=372050;gnomADv4_1_AN_joint_XX=185724;gnomADv4_1_AN_joint_XY=186326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=33262;gnomADv4_1_nhomalt_joint_XX=16453;gnomADv4_1_nhomalt_joint_XY=16809;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29311966 chr22_29311966_A_T A T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.41;CADD_Rawscore=-0.242883;CSQ=T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000216101|protein_coding||||||||||rs9613860|967|-1||HGNC|HGNC:16954|1|CCDS13854.1|ENSP00000216101|Q92737.180||UPI00001348FD|Q92737-1||Ensembl||A|A||||chr22:g.29311966A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000401450|protein_coding||||||||||rs9613860|967|-1||HGNC|HGNC:16954|2||ENSP00000386095|Q92737.180||UPI000020749D|Q92737-2||Ensembl||A|A||||chr22:g.29311966A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||5/5|ENST00000406549.7:c.1011-177A>T|||||||rs9613860||1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||A|A||||chr22:g.29311966A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||||||||||rs9613860|3446|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||A|A||||chr22:g.29311966A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||||||||||rs9613860|3431|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||A|A||||chr22:g.29311966A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000474590|protein_coding_CDS_not_defined||||||||||rs9613860|1569|-1||HGNC|HGNC:16954|2||||||||Ensembl||A|A||||chr22:g.29311966A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs9613860|4167|1||HGNC|HGNC:16955|4||||||||Ensembl||A|A||||chr22:g.29311966A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs9613860|859|1||HGNC|HGNC:16955|2||||||||Ensembl||A|A||||chr22:g.29311966A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000273216|Transcript|ENST00000608014|lncRNA||||||||||rs9613860|4778|-1||||||||||||Ensembl||A|A||||chr22:g.29311966A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||||||||||rs9613860|1537|-1||HGNC|HGNC:16954|5||||||||Ensembl||A|A||||chr22:g.29311966A>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding|5/5||ENST00000610653.4:c.*964A>T||2110|||||rs9613860||1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||A|A||||chr22:g.29311966A>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding|6/6||ENST00000611648.2%3Ac.1515A>T|ENSP00000479551.1%3Ap.Thr505%3D|1663|1515|505|T|acA/acT|rs9613860||1||HGNC|HGNC%3A16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22%3Ag.29311966A>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding|6/6||ENST00000616432.5%3Ac.1515A>T|ENSP00000478908.1%3Ap.Thr505%3D|2038|1515|505|T|acA/acT|rs9613860||1||HGNC|HGNC%3A16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22%3Ag.29311966A>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding|5/5||ENST00000618518.3%3Ac.1515A>T|ENSP00000481012.1%3Ap.Thr505%3D|2563|1515|505|T|acA/acT|rs9613860||1||HGNC|HGNC%3A16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22%3Ag.29311966A>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding|6/6||ENST00000621062.4%3Ac.1515A>T|ENSP00000478343.1%3Ap.Thr505%3D|1664|1515|505|T|acA/acT|rs9613860||1||HGNC|HGNC%3A16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22%3Ag.29311966A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.117+3899T>A|||||||rs9613860||-1||||||||||||Ensembl||A|A||||chr22:g.29311966A>T|||||||||||||,T|intron_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||5/5|NM_001278730.2:c.1011-177A>T|||||||rs9613860||1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||A|A||||chr22:g.29311966A>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding|6/6||NM_001362985.3%3Ac.1515A>T|NP_001349914.1%3Ap.Thr505%3D|2038|1515|505|T|acA/acT|rs9613860||1||EntrezGene|HGNC%3A16955|||NP_001349914.1||||||RefSeq||A|A||||chr22%3Ag.29311966A>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding|5/5||NM_001395196.1%3Ac.1515A>T|NP_001382125.1%3Ap.Thr505%3D|2598|1515|505|T|acA/acT|rs9613860||1||EntrezGene|HGNC%3A16955|||NP_001382125.1||||||RefSeq||A|A||||chr22%3Ag.29311966A>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding|6/6||NM_001395197.1%3Ac.1515A>T|NP_001382126.1%3Ap.Thr505%3D|2406|1515|505|T|acA/acT|rs9613860||1||EntrezGene|HGNC%3A16955|||NP_001382126.1||||||RefSeq||A|A||||chr22%3Ag.29311966A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|NM_006477.5|protein_coding||||||||||rs9613860|967|-1||EntrezGene|HGNC:16954|||NP_006468.1||||||RefSeq||A|A||||chr22:g.29311966A>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|10634|Transcript|NM_006478.5|protein_coding|6/6||NM_006478.5%3Ac.1515A>T|NP_006469.2%3Ap.Thr505%3D|1693|1515|505|T|acA/acT|rs9613860||1||EntrezGene|HGNC%3A16955|||NP_006469.2||||||RefSeq||A|A||||chr22%3Ag.29311966A>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|10634|Transcript|NM_152236.3|protein_coding|6/6||NM_152236.3%3Ac.1515A>T|NP_689422.1%3Ap.Thr505%3D|1698|1515|505|T|acA/acT|rs9613860||1||EntrezGene|HGNC%3A16955|||NP_689422.1||||||RefSeq||A|A||||chr22%3Ag.29311966A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding||||||||||rs9613860|967|-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||A|A||||chr22:g.29311966A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs9613860|967|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||A|A||||chr22:g.29311966A>T|||||||||||||,T|synonymous_variant|LOW|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding|6/6||XM_011529825.1%3Ac.1515A>T|XP_011528127.1%3Ap.Thr505%3D|1654|1515|505|T|acA/acT|rs9613860||1||EntrezGene|HGNC%3A16955|||XP_011528127.1||||||RefSeq||A|A||||chr22%3Ag.29311966A>T|||||||||||||;REVEL_score=0.078;SpliceAI=T|GAS2L1|0.18|0.00|0.00|0.00|10|-45|-34|10;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216101,ENST00000401450,ENST00000406549,ENST00000416823,ENST00000428622,ENST00000474590,ENST00000487341,ENST00000491016,ENST00000608014,ENST00000608559,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006477.5,NM_006478.5,NM_152236.3,XM_011529822.1,XM_011529823.2,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100276,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000273216,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,10634,10634,10634,10634,10633,10634,10634,10633,10633,10634;VEP_SYMBOL=RASL10A,RASL10A,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,.,RASL10A,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,RASL10A,GAS2L1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=266429;gnomADv4_1_AC_joint_XX=131213;gnomADv4_1_AC_joint_XY=135216;gnomADv4_1_AF_grpmax_joint=0.287532;gnomADv4_1_AF_joint=0.165642;gnomADv4_1_AF_joint_XX=0.16213;gnomADv4_1_AF_joint_XY=0.169199;gnomADv4_1_AN_grpmax_joint=91082;gnomADv4_1_AN_joint=1608458;gnomADv4_1_AN_joint_XX=809306;gnomADv4_1_AN_joint_XY=799152;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=24326;gnomADv4_1_nhomalt_joint_XX=11600;gnomADv4_1_nhomalt_joint_XY=12726;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29312201 chr22_29312201_G_C G C 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=31;AlphaMissense_class=likely_benign;AlphaMissense_pathogenicity=0.113;AlphaMissense_protein_variant=G584R;AlphaMissense_transcript_id=ENST00000611648.2;AlphaMissense_uniprot_id=Q99501;CADD_PHREDscore=20.9;CADD_Rawscore=2.95348;CSQ=C|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000216101|protein_coding||||||||||rs557172658|732|-1||HGNC|HGNC:16954|1|CCDS13854.1|ENSP00000216101|Q92737.180||UPI00001348FD|Q92737-1||Ensembl||G|G||||chr22:g.29312201G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000401450|protein_coding||||||||||rs557172658|732|-1||HGNC|HGNC:16954|2||ENSP00000386095|Q92737.180||UPI000020749D|Q92737-2||Ensembl||G|G||||chr22:g.29312201G>C|||||||||||||,C|missense_variant|MODERATE|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding|6/6||ENST00000406549.7:c.1069G>C|ENSP00000383995.3:p.Gly357Arg|1219|1069|357|G/R|Ggc/Cgc|rs557172658||1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||G|G||||chr22:g.29312201G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||||||||||rs557172658|3681|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||G|G||||chr22:g.29312201G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||||||||||rs557172658|3666|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||G|G||||chr22:g.29312201G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000474590|protein_coding_CDS_not_defined||||||||||rs557172658|1334|-1||HGNC|HGNC:16954|2||||||||Ensembl||G|G||||chr22:g.29312201G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000487341|retained_intron||||||||||rs557172658|4402|1||HGNC|HGNC:16955|4||||||||Ensembl||G|G||||chr22:g.29312201G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs557172658|1094|1||HGNC|HGNC:16955|2||||||||Ensembl||G|G||||chr22:g.29312201G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000273216|Transcript|ENST00000608014|lncRNA||||||||||rs557172658|4543|-1||||||||||||Ensembl||G|G||||chr22:g.29312201G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||||||||||rs557172658|1302|-1||HGNC|HGNC:16954|5||||||||Ensembl||G|G||||chr22:g.29312201G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs557172658|107|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||G|G||||chr22:g.29312201G>C|||||||||||||,C|missense_variant|MODERATE|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding|6/6||ENST00000611648.2:c.1750G>C|ENSP00000479551.1:p.Gly584Arg|1898|1750|584|G/R|Ggc/Cgc|rs557172658||1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||G|G||||chr22:g.29312201G>C|||||||||||||,C|missense_variant|MODERATE|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding|6/6||ENST00000616432.5:c.1750G>C|ENSP00000478908.1:p.Gly584Arg|2273|1750|584|G/R|Ggc/Cgc|rs557172658||1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||G|G||||chr22:g.29312201G>C|||||||||||||,C|missense_variant|MODERATE|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding|5/5||ENST00000618518.3:c.1750G>C|ENSP00000481012.1:p.Gly584Arg|2798|1750|584|G/R|Ggc/Cgc|rs557172658||1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||G|G||||chr22:g.29312201G>C|||||||||||||,C|missense_variant|MODERATE|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding|6/6||ENST00000621062.4:c.1750G>C|ENSP00000478343.1:p.Gly584Arg|1899|1750|584|G/R|Ggc/Cgc|rs557172658||1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||G|G||||chr22:g.29312201G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.117+3664C>G|||||||rs557172658||-1||||||||||||Ensembl||G|G||||chr22:g.29312201G>C|||||||||||||,C|missense_variant|MODERATE|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding|6/6||NM_001278730.2:c.1069G>C|NP_001265659.1:p.Gly357Arg|1219|1069|357|G/R|Ggc/Cgc|rs557172658||1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||G|G||||chr22:g.29312201G>C|||||||||||||,C|missense_variant|MODERATE|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding|6/6||NM_001362985.3:c.1750G>C|NP_001349914.1:p.Gly584Arg|2273|1750|584|G/R|Ggc/Cgc|rs557172658||1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||G|G||||chr22:g.29312201G>C|||||||||||||,C|missense_variant|MODERATE|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding|5/5||NM_001395196.1:c.1750G>C|NP_001382125.1:p.Gly584Arg|2833|1750|584|G/R|Ggc/Cgc|rs557172658||1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||G|G||||chr22:g.29312201G>C|||||||||||||,C|missense_variant|MODERATE|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding|6/6||NM_001395197.1:c.1750G>C|NP_001382126.1:p.Gly584Arg|2641|1750|584|G/R|Ggc/Cgc|rs557172658||1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||G|G||||chr22:g.29312201G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|NM_006477.5|protein_coding||||||||||rs557172658|732|-1||EntrezGene|HGNC:16954|||NP_006468.1||||||RefSeq||G|G||||chr22:g.29312201G>C|||||||||||||,C|missense_variant|MODERATE|GAS2L1|10634|Transcript|NM_006478.5|protein_coding|6/6||NM_006478.5:c.1750G>C|NP_006469.2:p.Gly584Arg|1928|1750|584|G/R|Ggc/Cgc|rs557172658||1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||G|G||||chr22:g.29312201G>C|||||||||||||,C|missense_variant|MODERATE|GAS2L1|10634|Transcript|NM_152236.3|protein_coding|6/6||NM_152236.3:c.1750G>C|NP_689422.1:p.Gly584Arg|1933|1750|584|G/R|Ggc/Cgc|rs557172658||1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||G|G||||chr22:g.29312201G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding||||||||||rs557172658|732|-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||G|G||||chr22:g.29312201G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs557172658|732|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||G|G||||chr22:g.29312201G>C|||||||||||||,C|missense_variant|MODERATE|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding|6/6||XM_011529825.1:c.1750G>C|XP_011528127.1:p.Gly584Arg|1889|1750|584|G/R|Ggc/Cgc|rs557172658||1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||G|G||||chr22:g.29312201G>C|||||||||||||;REVEL_score=0.027;SpliceAI=C|GAS2L1|0.03|0.00|0.00|0.00|-37|50|-30|-21;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216101,ENST00000401450,ENST00000406549,ENST00000416823,ENST00000428622,ENST00000474590,ENST00000487341,ENST00000491016,ENST00000608014,ENST00000608559,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006477.5,NM_006478.5,NM_152236.3,XM_011529822.1,XM_011529823.2,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100276,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000273216,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,10634,10634,10634,10634,10633,10634,10634,10633,10633,10634;VEP_SYMBOL=RASL10A,RASL10A,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,.,RASL10A,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,RASL10A,GAS2L1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=198;gnomADv4_1_AC_joint_XX=100;gnomADv4_1_AC_joint_XY=98;gnomADv4_1_AF_grpmax_joint=0.00197954;gnomADv4_1_AF_joint=0.000122747;gnomADv4_1_AF_joint_XX=0.000123164;gnomADv4_1_AF_joint_XY=0.000122323;gnomADv4_1_AN_grpmax_joint=6062;gnomADv4_1_AN_joint=1613080;gnomADv4_1_AN_joint_XX=811924;gnomADv4_1_AN_joint_XY=801156;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29312807 chr22_29312807_CT_C CT C 51 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=2.289;CADDIndel_Rawscore=0.199913;CSQ=-|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000216101|protein_coding||||||||||rs3216803|125|-1||HGNC|HGNC:16954|1|CCDS13854.1|ENSP00000216101|Q92737.180||UPI00001348FD|Q92737-1||Ensembl||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000401450|protein_coding||||||||||rs3216803|125|-1||HGNC|HGNC:16954|2||ENSP00000386095|Q92737.180||UPI000020749D|Q92737-2||Ensembl||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs3216803|23|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000416823|protein_coding||||||||||rs3216803|4288|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000395988||C9JFI0.90|UPI0001611097|||Ensembl||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000428622|protein_coding||||||||||rs3216803|4273|1|cds_end_NF|HGNC|HGNC:16955|4||ENSP00000388645||C9JRR6.90|UPI0001611098|||Ensembl||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000474590|protein_coding_CDS_not_defined||||||||||rs3216803|727|-1||HGNC|HGNC:16954|2||||||||Ensembl||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs3216803|1701|1||HGNC|HGNC:16955|2||||||||Ensembl||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000273216|Transcript|ENST00000608014|lncRNA||||||||||rs3216803|3936|-1||||||||||||Ensembl||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||||||||||rs3216803|695|-1||HGNC|HGNC:16954|5||||||||Ensembl||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs3216803|714|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs3216803|23|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||||||||||rs3216803|21|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs3216803|23|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs3216803|23|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29312808del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.117+3057del|||||||rs3216803||-1||||||||||||Ensembl||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs3216803|21|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||||||||||rs3216803|21|1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs3216803|21|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs3216803|21|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|NM_006477.5|protein_coding||||||||||rs3216803|125|-1||EntrezGene|HGNC:16954|||NP_006468.1||||||RefSeq||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs3216803|21|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs3216803|21|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding||||||||||rs3216803|125|-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs3216803|125|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||T|T||||chr22:g.29312808del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||||||||||rs3216803|21|1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||T|T||||chr22:g.29312808del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216101,ENST00000401450,ENST00000406549,ENST00000416823,ENST00000428622,ENST00000474590,ENST00000491016,ENST00000608014,ENST00000608559,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006477.5,NM_006478.5,NM_152236.3,XM_011529822.1,XM_011529823.2,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100276,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000100276,ENSG00000185340,ENSG00000273216,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,10634,10634,10634,10634,10633,10634,10634,10633,10633,10634;VEP_SYMBOL=RASL10A,RASL10A,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,.,RASL10A,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,RASL10A,GAS2L1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118124;gnomADv4_1_AC_joint_XX=59416;gnomADv4_1_AC_joint_XY=58708;gnomADv4_1_AF_grpmax_joint=0.658147;gnomADv4_1_AF_joint=0.367841;gnomADv4_1_AF_joint_XX=0.367373;gnomADv4_1_AF_joint_XY=0.368315;gnomADv4_1_AN_grpmax_joint=20228;gnomADv4_1_AN_joint=321128;gnomADv4_1_AN_joint_XX=161732;gnomADv4_1_AN_joint_XY=159396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23224;gnomADv4_1_nhomalt_joint_XX=11646;gnomADv4_1_nhomalt_joint_XY=11578;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29314336 chr22_29314336_T_C T C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.286;CADD_Rawscore=0.047758;CSQ=C|intron_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000216101|protein_coding||1/2|ENST00000216101.7:c.220-349A>G|||||||rs174762||-1||HGNC|HGNC:16954|1|CCDS13854.1|ENSP00000216101|Q92737.180||UPI00001348FD|Q92737-1||Ensembl||T|T||||chr22:g.29314336T>C|||||||||||||,C|intron_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000401450|protein_coding||1/1|ENST00000401450.3:c.220-349A>G|||||||rs174762||-1||HGNC|HGNC:16954|2||ENSP00000386095|Q92737.180||UPI000020749D|Q92737-2||Ensembl||T|T||||chr22:g.29314336T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs174762|1551|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||T|T||||chr22:g.29314336T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000474590|protein_coding_CDS_not_defined||||||||||rs174762|30|-1||HGNC|HGNC:16954|2||||||||Ensembl||T|T||||chr22:g.29314336T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs174762|3229|1||HGNC|HGNC:16955|2||||||||Ensembl||T|T||||chr22:g.29314336T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000273216|Transcript|ENST00000608014|lncRNA||||||||||rs174762|2408|-1||||||||||||Ensembl||T|T||||chr22:g.29314336T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||1/2|ENST00000608559.1:n.372-349A>G|||||||rs174762||-1||HGNC|HGNC:16954|5||||||||Ensembl||T|T||||chr22:g.29314336T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs174762|2242|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||T|T||||chr22:g.29314336T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs174762|1551|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29314336T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||||||||||rs174762|1549|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29314336T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs174762|1551|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29314336T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs174762|1551|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29314336T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.117+1529A>G|||||||rs174762||-1||||||||||||Ensembl||T|T||||chr22:g.29314336T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs174762|1549|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||T|T||||chr22:g.29314336T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||||||||||rs174762|1549|1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||T|T||||chr22:g.29314336T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs174762|1549|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||T|T||||chr22:g.29314336T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs174762|1549|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||T|T||||chr22:g.29314336T>C|||||||||||||,C|intron_variant|MODIFIER|RASL10A|10633|Transcript|NM_006477.5|protein_coding||1/2|NM_006477.5:c.220-349A>G|||||||rs174762||-1||EntrezGene|HGNC:16954|||NP_006468.1||||||RefSeq||T|T||||chr22:g.29314336T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs174762|1549|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||T|T||||chr22:g.29314336T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs174762|1549|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||T|T||||chr22:g.29314336T>C|||||||||||||,C|intron_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding||2/3|XM_011529822.1:c.280-349A>G|||||||rs174762||-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||T|T||||chr22:g.29314336T>C|||||||||||||,C|intron_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||1/2|XM_011529823.2:c.76-349A>G|||||||rs174762||-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||T|T||||chr22:g.29314336T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||||||||||rs174762|1549|1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||T|T||||chr22:g.29314336T>C|||||||||||||;SpliceAI=C|RASL10A|0.00|0.00|0.00|0.00|-45|31|49|-39;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216101,ENST00000401450,ENST00000406549,ENST00000474590,ENST00000491016,ENST00000608014,ENST00000608559,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006477.5,NM_006478.5,NM_152236.3,XM_011529822.1,XM_011529823.2,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100276,ENSG00000100276,ENSG00000185340,ENSG00000100276,ENSG00000185340,ENSG00000273216,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,10634,10634,10634,10634,10633,10634,10634,10633,10633,10634;VEP_SYMBOL=RASL10A,RASL10A,GAS2L1,RASL10A,GAS2L1,.,RASL10A,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,RASL10A,GAS2L1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=138766;gnomADv4_1_AC_joint_XX=70424;gnomADv4_1_AC_joint_XY=68342;gnomADv4_1_AF_grpmax_joint=0.800451;gnomADv4_1_AF_joint=0.644153;gnomADv4_1_AF_joint_XX=0.648997;gnomADv4_1_AF_joint_XY=0.639236;gnomADv4_1_AN_grpmax_joint=43448;gnomADv4_1_AN_joint=215424;gnomADv4_1_AN_joint_XX=108512;gnomADv4_1_AN_joint_XY=106912;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=45860;gnomADv4_1_nhomalt_joint_XX=23389;gnomADv4_1_nhomalt_joint_XY=22471;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29314371 chr22_29314371_T_C T C 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=3.828;CADD_Rawscore=0.349958;CSQ=C|intron_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000216101|protein_coding||1/2|ENST00000216101.7:c.220-384A>G|||||||rs13056977||-1||HGNC|HGNC:16954|1|CCDS13854.1|ENSP00000216101|Q92737.180||UPI00001348FD|Q92737-1||Ensembl||T|T||||chr22:g.29314371T>C|||||||||||||,C|intron_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000401450|protein_coding||1/1|ENST00000401450.3:c.220-384A>G|||||||rs13056977||-1||HGNC|HGNC:16954|2||ENSP00000386095|Q92737.180||UPI000020749D|Q92737-2||Ensembl||T|T||||chr22:g.29314371T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs13056977|1586|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||T|T||||chr22:g.29314371T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000474590|protein_coding_CDS_not_defined||||||||||rs13056977|65|-1||HGNC|HGNC:16954|2||||||||Ensembl||T|T||||chr22:g.29314371T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs13056977|3264|1||HGNC|HGNC:16955|2||||||||Ensembl||T|T||||chr22:g.29314371T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000273216|Transcript|ENST00000608014|lncRNA||||||||||rs13056977|2373|-1||||||||||||Ensembl||T|T||||chr22:g.29314371T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||1/2|ENST00000608559.1:n.372-384A>G|||||||rs13056977||-1||HGNC|HGNC:16954|5||||||||Ensembl||T|T||||chr22:g.29314371T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs13056977|2277|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||T|T||||chr22:g.29314371T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs13056977|1586|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29314371T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||||||||||rs13056977|1584|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29314371T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs13056977|1586|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29314371T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs13056977|1586|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29314371T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.117+1494A>G|||||||rs13056977||-1||||||||||||Ensembl||T|T||||chr22:g.29314371T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs13056977|1584|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||T|T||||chr22:g.29314371T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||||||||||rs13056977|1584|1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||T|T||||chr22:g.29314371T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs13056977|1584|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||T|T||||chr22:g.29314371T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs13056977|1584|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||T|T||||chr22:g.29314371T>C|||||||||||||,C|intron_variant|MODIFIER|RASL10A|10633|Transcript|NM_006477.5|protein_coding||1/2|NM_006477.5:c.220-384A>G|||||||rs13056977||-1||EntrezGene|HGNC:16954|||NP_006468.1||||||RefSeq||T|T||||chr22:g.29314371T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs13056977|1584|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||T|T||||chr22:g.29314371T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs13056977|1584|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||T|T||||chr22:g.29314371T>C|||||||||||||,C|intron_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding||2/3|XM_011529822.1:c.280-384A>G|||||||rs13056977||-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||T|T||||chr22:g.29314371T>C|||||||||||||,C|intron_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||1/2|XM_011529823.2:c.76-384A>G|||||||rs13056977||-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||T|T||||chr22:g.29314371T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||||||||||rs13056977|1584|1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||T|T||||chr22:g.29314371T>C|||||||||||||;SpliceAI=C|RASL10A|0.00|0.00|0.01|0.00|43|-4|44|28;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216101,ENST00000401450,ENST00000406549,ENST00000474590,ENST00000491016,ENST00000608014,ENST00000608559,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006477.5,NM_006478.5,NM_152236.3,XM_011529822.1,XM_011529823.2,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100276,ENSG00000100276,ENSG00000185340,ENSG00000100276,ENSG00000185340,ENSG00000273216,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,10634,10634,10634,10634,10633,10634,10634,10633,10633,10634;VEP_SYMBOL=RASL10A,RASL10A,GAS2L1,RASL10A,GAS2L1,.,RASL10A,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,RASL10A,GAS2L1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30803;gnomADv4_1_AC_joint_XX=15796;gnomADv4_1_AC_joint_XY=15007;gnomADv4_1_AF_grpmax_joint=0.284819;gnomADv4_1_AF_joint=0.152394;gnomADv4_1_AF_joint_XX=0.15535;gnomADv4_1_AF_joint_XY=0.149401;gnomADv4_1_AN_grpmax_joint=7338;gnomADv4_1_AN_joint=202128;gnomADv4_1_AN_joint_XX=101680;gnomADv4_1_AN_joint_XY=100448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2645;gnomADv4_1_nhomalt_joint_XX=1362;gnomADv4_1_nhomalt_joint_XY=1283;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29315262 chr22_29315262_T_C T C 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=12.08;CADD_Rawscore=1.18411;CSQ=C|5_prime_UTR_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000216101|protein_coding|1/3||ENST00000216101.7:c.-16A>G||436|||||rs2519485||-1||HGNC|HGNC:16954|1|CCDS13854.1|ENSP00000216101|Q92737.180||UPI00001348FD|Q92737-1||Ensembl||T|T||||chr22:g.29315262T>C|||||||||0|1|0||,C|5_prime_UTR_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000401450|protein_coding|1/2||ENST00000401450.3:c.-16A>G||431|||||rs2519485||-1||HGNC|HGNC:16954|2||ENSP00000386095|Q92737.180||UPI000020749D|Q92737-2||Ensembl||T|T||||chr22:g.29315262T>C|||||||||0|1|0||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs2519485|2477|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||T|T||||chr22:g.29315262T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000474590|protein_coding_CDS_not_defined||||||||||rs2519485|956|-1||HGNC|HGNC:16954|2||||||||Ensembl||T|T||||chr22:g.29315262T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000491016|retained_intron||||||||||rs2519485|4155|1||HGNC|HGNC:16955|2||||||||Ensembl||T|T||||chr22:g.29315262T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000273216|Transcript|ENST00000608014|lncRNA||||||||||rs2519485|1482|-1||||||||||||Ensembl||T|T||||chr22:g.29315262T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||1/2|ENST00000608559.1:n.372-1275A>G|||||||rs2519485||-1||HGNC|HGNC:16954|5||||||||Ensembl||T|T||||chr22:g.29315262T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs2519485|3168|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||T|T||||chr22:g.29315262T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs2519485|2477|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29315262T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||||||||||rs2519485|2475|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29315262T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs2519485|2477|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29315262T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs2519485|2477|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||T|T||||chr22:g.29315262T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||1/2|ENST00000780180.1:n.117+603A>G|||||||rs2519485||-1||||||||||||Ensembl||T|T||||chr22:g.29315262T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs2519485|2475|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||T|T||||chr22:g.29315262T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||||||||||rs2519485|2475|1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||T|T||||chr22:g.29315262T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs2519485|2475|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||T|T||||chr22:g.29315262T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs2519485|2475|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||T|T||||chr22:g.29315262T>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|RASL10A|10633|Transcript|NM_006477.5|protein_coding|1/3||NM_006477.5:c.-16A>G||436|||||rs2519485||-1||EntrezGene|HGNC:16954|||NP_006468.1||||||RefSeq||T|T||||chr22:g.29315262T>C|||||||||0|1|0||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs2519485|2475|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||T|T||||chr22:g.29315262T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs2519485|2475|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||T|T||||chr22:g.29315262T>C|||||||||||||,C|intron_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding||2/3|XM_011529822.1:c.279+603A>G|||||||rs2519485||-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||T|T||||chr22:g.29315262T>C|||||||||||||,C|intron_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||1/2|XM_011529823.2:c.76-1275A>G|||||||rs2519485||-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||T|T||||chr22:g.29315262T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||||||||||rs2519485|2475|1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||T|T||||chr22:g.29315262T>C|||||||||||||;SpliceAI=C|RASL10A|0.00|0.00|0.00|0.00|-1|-27|41|-22;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216101,ENST00000401450,ENST00000406549,ENST00000474590,ENST00000491016,ENST00000608014,ENST00000608559,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006477.5,NM_006478.5,NM_152236.3,XM_011529822.1,XM_011529823.2,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100276,ENSG00000100276,ENSG00000185340,ENSG00000100276,ENSG00000185340,ENSG00000273216,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,10634,10634,10634,10634,10633,10634,10634,10633,10633,10634;VEP_SYMBOL=RASL10A,RASL10A,GAS2L1,RASL10A,GAS2L1,.,RASL10A,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,RASL10A,GAS2L1;VEP_existing_InFrame_oORFs=0,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=1,1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,1,.,.,.,.,.;VEP_existing_uORFs=0,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1439943;gnomADv4_1_AC_joint_XX=735167;gnomADv4_1_AC_joint_XY=704776;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999995;gnomADv4_1_AF_joint_XX=0.999993;gnomADv4_1_AF_joint_XY=0.999997;gnomADv4_1_AN_grpmax_joint=4708;gnomADv4_1_AN_joint=1439950;gnomADv4_1_AN_joint_XX=735172;gnomADv4_1_AN_joint_XY=704778;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=719968;gnomADv4_1_nhomalt_joint_XX=367581;gnomADv4_1_nhomalt_joint_XY=352387;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29316533 chr22_29316533_GGC_G GGC G 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.289;CADDIndel_Rawscore=-0.331827;CSQ=-|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000216101|protein_coding||||||||||rs3831691|837|-1||HGNC|HGNC:16954|1|CCDS13854.1|ENSP00000216101|Q92737.180||UPI00001348FD|Q92737-1||Ensembl||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000401450|protein_coding||||||||||rs3831691|842|-1||HGNC|HGNC:16954|2||ENSP00000386095|Q92737.180||UPI000020749D|Q92737-2||Ensembl||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs3831691|3749|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000474590|protein_coding_CDS_not_defined||||||||||rs3831691|2228|-1||HGNC|HGNC:16954|2||||||||Ensembl||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000273216|Transcript|ENST00000608014|lncRNA||||||||||rs3831691|209|-1||||||||||||Ensembl||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||1/2|ENST00000608559.1:n.372-2548_372-2547del|||||||rs3831691||-1||HGNC|HGNC:16954|5||||||||Ensembl||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs3831691|4440|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs3831691|3749|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||||||||||rs3831691|3747|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs3831691|3749|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs3831691|3749|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||||||||||rs3831691|553|-1||||||||||||Ensembl||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs3831691|3747|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||||||||||rs3831691|3747|1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs3831691|3747|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs3831691|3747|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|NM_006477.5|protein_coding||||||||||rs3831691|837|-1||EntrezGene|HGNC:16954|||NP_006468.1||||||RefSeq||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs3831691|3747|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs3831691|3747|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|5_prime_UTR_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding|1/4||XM_011529822.1:c.-141_-140del||784-785|||||rs3831691||-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||GC|GC||||chr22:g.29316536_29316537del|||||||||0|0|12|uFrameShift_Evidence:False&uFrameShift_KozakContext:TAAATGA&uFrameShift_KozakStrength:Weak&uFrameShift_alt_type:uORF&uFrameShift_alt_type_length:255&uFrameShift_ref_StartDistanceToCDS:370&uFrameShift_ref_type:uORF&uFrameShift_ref_type_length:342&uFrameShift_Evidence:False&uFrameShift_KozakContext:GCCATGT&uFrameShift_KozakStrength:Moderate&uFrameShift_alt_type:uORF&uFrameShift_alt_type_length:177&uFrameShift_ref_StartDistanceToCDS:292&uFrameShift_ref_type:uORF&uFrameShift_ref_type_length:264|uFrameShift&uFrameShift,-|intron_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||1/2|XM_011529823.2:c.76-2548_76-2547del|||||||rs3831691||-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||GC|GC||||chr22:g.29316536_29316537del|||||||||||||,-|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||||||||||rs3831691|3747|1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||GC|GC||||chr22:g.29316536_29316537del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216101,ENST00000401450,ENST00000406549,ENST00000474590,ENST00000608014,ENST00000608559,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006477.5,NM_006478.5,NM_152236.3,XM_011529822.1,XM_011529823.2,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100276,ENSG00000100276,ENSG00000185340,ENSG00000100276,ENSG00000273216,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,10634,10634,10634,10634,10633,10634,10634,10633,10633,10634;VEP_SYMBOL=RASL10A,RASL10A,GAS2L1,RASL10A,.,RASL10A,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,RASL10A,GAS2L1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,uFrameShift_Evidence:False&uFrameShift_KozakContext:TAAATGA&uFrameShift_KozakStrength:Weak&uFrameShift_alt_type:uORF&uFrameShift_alt_type_length:255&uFrameShift_ref_StartDistanceToCDS:370&uFrameShift_ref_type:uORF&uFrameShift_ref_type_length:342&uFrameShift_Evidence:False&uFrameShift_KozakContext:GCCATGT&uFrameShift_KozakStrength:Moderate&uFrameShift_alt_type:uORF&uFrameShift_alt_type_length:177&uFrameShift_ref_StartDistanceToCDS:292&uFrameShift_ref_type:uORF&uFrameShift_ref_type_length:264,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,uFrameShift&uFrameShift,.,.;gnomADv4_1_AC_joint=21648;gnomADv4_1_AC_joint_XX=10573;gnomADv4_1_AC_joint_XY=11075;gnomADv4_1_AF_grpmax_joint=0.360257;gnomADv4_1_AF_joint=0.142324;gnomADv4_1_AF_joint_XX=0.13597;gnomADv4_1_AF_joint_XY=0.14897;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=152104;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2064;gnomADv4_1_nhomalt_joint_XX=957;gnomADv4_1_nhomalt_joint_XY=1107;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29317056 chr22_29317056_A_G A G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.57;CADD_Rawscore=0.100174;CSQ=G|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000216101|protein_coding||||||||||rs174763|1359|-1||HGNC|HGNC:16954|1|CCDS13854.1|ENSP00000216101|Q92737.180||UPI00001348FD|Q92737-1||Ensembl||A|A||||chr22:g.29317056A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000401450|protein_coding||||||||||rs174763|1364|-1||HGNC|HGNC:16954|2||ENSP00000386095|Q92737.180||UPI000020749D|Q92737-2||Ensembl||A|A||||chr22:g.29317056A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs174763|4271|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||A|A||||chr22:g.29317056A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000474590|protein_coding_CDS_not_defined||||||||||rs174763|2750|-1||HGNC|HGNC:16954|2||||||||Ensembl||A|A||||chr22:g.29317056A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000273216|Transcript|ENST00000608014|lncRNA|1/1||ENST00000608014.1:n.165T>C||165|||||rs174763||-1||||||||||||Ensembl||A|A||||chr22:g.29317056A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||1/2|ENST00000608559.1:n.371+2253T>C|||||||rs174763||-1||HGNC|HGNC:16954|5||||||||Ensembl||A|A||||chr22:g.29317056A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs174763|4962|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||A|A||||chr22:g.29317056A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs174763|4271|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29317056A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||||||||||rs174763|4269|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29317056A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs174763|4271|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29317056A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs174763|4271|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||A|A||||chr22:g.29317056A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||||||||||rs174763|1075|-1||||||||||||Ensembl||A|A||||chr22:g.29317056A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs174763|4269|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||A|A||||chr22:g.29317056A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||||||||||rs174763|4269|1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||A|A||||chr22:g.29317056A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs174763|4269|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||A|A||||chr22:g.29317056A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs174763|4269|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||A|A||||chr22:g.29317056A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|NM_006477.5|protein_coding||||||||||rs174763|1359|-1||EntrezGene|HGNC:16954|||NP_006468.1||||||RefSeq||A|A||||chr22:g.29317056A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs174763|4269|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||A|A||||chr22:g.29317056A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs174763|4269|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||A|A||||chr22:g.29317056A>G|||||||||||||,G|5_prime_UTR_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding|1/4||XM_011529822.1:c.-662T>C||263|||||rs174763||-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||A|A||||chr22:g.29317056A>G|||||||||0|0|12||,G|intron_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||1/2|XM_011529823.2:c.75+2253T>C|||||||rs174763||-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||A|A||||chr22:g.29317056A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||||||||||rs174763|4269|1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||A|A||||chr22:g.29317056A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216101,ENST00000401450,ENST00000406549,ENST00000474590,ENST00000608014,ENST00000608559,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006477.5,NM_006478.5,NM_152236.3,XM_011529822.1,XM_011529823.2,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100276,ENSG00000100276,ENSG00000185340,ENSG00000100276,ENSG00000273216,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,10634,10634,10634,10634,10633,10634,10634,10633,10633,10634;VEP_SYMBOL=RASL10A,RASL10A,GAS2L1,RASL10A,.,RASL10A,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,RASL10A,GAS2L1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152372;gnomADv4_1_AC_joint_XX=77848;gnomADv4_1_AC_joint_XY=74524;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68078;gnomADv4_1_AN_joint=152372;gnomADv4_1_AN_joint_XX=77848;gnomADv4_1_AN_joint_XY=74524;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76186;gnomADv4_1_nhomalt_joint_XX=38924;gnomADv4_1_nhomalt_joint_XY=37262;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29317061 chr22_29317061_G_A G A 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.025;CADD_Rawscore=-0.989415;CSQ=A|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000216101|protein_coding||||||||||rs1858804|1364|-1||HGNC|HGNC:16954|1|CCDS13854.1|ENSP00000216101|Q92737.180||UPI00001348FD|Q92737-1||Ensembl||G|G||||chr22:g.29317061G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000401450|protein_coding||||||||||rs1858804|1369|-1||HGNC|HGNC:16954|2||ENSP00000386095|Q92737.180||UPI000020749D|Q92737-2||Ensembl||G|G||||chr22:g.29317061G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000406549|protein_coding||||||||||rs1858804|4276|1||HGNC|HGNC:16955|1|CCDS63438.1|ENSP00000383995|Q99501.179||UPI0001611096|Q99501-4||Ensembl||G|G||||chr22:g.29317061G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000474590|protein_coding_CDS_not_defined||||||||||rs1858804|2755|-1||HGNC|HGNC:16954|2||||||||Ensembl||G|G||||chr22:g.29317061G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000273216|Transcript|ENST00000608014|lncRNA|1/1||ENST00000608014.1:n.160C>T||160|||||rs1858804||-1||||||||||||Ensembl||G|G||||chr22:g.29317061G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||1/2|ENST00000608559.1:n.371+2248C>T|||||||rs1858804||-1||HGNC|HGNC:16954|5||||||||Ensembl||G|G||||chr22:g.29317061G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000610653|protein_coding||||||||||rs1858804|4967|1||HGNC|HGNC:16955|1||ENSP00000484130|Q99501.179|A0A384P5D0.28|UPI0000161439|Q99501-2||Ensembl||G|G||||chr22:g.29317061G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000611648|protein_coding||||||||||rs1858804|4276|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000479551||A0A5E8.132|UPI0000073BD7|||Ensembl||G|G||||chr22:g.29317061G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000616432|protein_coding||||||||||rs1858804|4274|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478908||A0A5E8.132|UPI0000073BD7|||Ensembl||G|G||||chr22:g.29317061G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000618518|protein_coding||||||||||rs1858804|4276|1||HGNC|HGNC:16955|2|CCDS74840.1|ENSP00000481012||A0A5E8.132|UPI0000073BD7|||Ensembl||G|G||||chr22:g.29317061G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GAS2L1|ENSG00000185340|Transcript|ENST00000621062|protein_coding||||||||||rs1858804|4276|1||HGNC|HGNC:16955|1|CCDS74840.1|ENSP00000478343||A0A5E8.132|UPI0000073BD7|||Ensembl||G|G||||chr22:g.29317061G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||||||||||rs1858804|1080|-1||||||||||||Ensembl||G|G||||chr22:g.29317061G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001278730.2|protein_coding||||||||||rs1858804|4274|1||EntrezGene|HGNC:16955|||NP_001265659.1||||||RefSeq||G|G||||chr22:g.29317061G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001362985.3|protein_coding||||||||||rs1858804|4274|1||EntrezGene|HGNC:16955|||NP_001349914.1||||||RefSeq||G|G||||chr22:g.29317061G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395196.1|protein_coding||||||||||rs1858804|4274|1||EntrezGene|HGNC:16955|||NP_001382125.1||||||RefSeq||G|G||||chr22:g.29317061G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_001395197.1|protein_coding||||||||||rs1858804|4274|1||EntrezGene|HGNC:16955|||NP_001382126.1||||||RefSeq||G|G||||chr22:g.29317061G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|NM_006477.5|protein_coding||||||||||rs1858804|1364|-1||EntrezGene|HGNC:16954|||NP_006468.1||||||RefSeq||G|G||||chr22:g.29317061G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_006478.5|protein_coding||||||||||rs1858804|4274|1||EntrezGene|HGNC:16955|||NP_006469.2||||||RefSeq||G|G||||chr22:g.29317061G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|NM_152236.3|protein_coding||||||||||rs1858804|4274|1||EntrezGene|HGNC:16955|||NP_689422.1||||||RefSeq||G|G||||chr22:g.29317061G>A|||||||||||||,A|5_prime_UTR_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding|1/4||XM_011529822.1:c.-667C>T||258|||||rs1858804||-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||G|G||||chr22:g.29317061G>A|||||||||0|0|12||,A|intron_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||1/2|XM_011529823.2:c.75+2248C>T|||||||rs1858804||-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||G|G||||chr22:g.29317061G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GAS2L1|10634|Transcript|XM_011529825.1|protein_coding||||||||||rs1858804|4274|1||EntrezGene|HGNC:16955|||XP_011528127.1||||||RefSeq||G|G||||chr22:g.29317061G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216101,ENST00000401450,ENST00000406549,ENST00000474590,ENST00000608014,ENST00000608559,ENST00000610653,ENST00000611648,ENST00000616432,ENST00000618518,ENST00000621062,ENST00000780180,NM_001278730.2,NM_001362985.3,NM_001395196.1,NM_001395197.1,NM_006477.5,NM_006478.5,NM_152236.3,XM_011529822.1,XM_011529823.2,XM_011529825.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100276,ENSG00000100276,ENSG00000185340,ENSG00000100276,ENSG00000273216,ENSG00000100276,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000185340,ENSG00000301612,10634,10634,10634,10634,10633,10634,10634,10633,10633,10634;VEP_SYMBOL=RASL10A,RASL10A,GAS2L1,RASL10A,.,RASL10A,GAS2L1,GAS2L1,GAS2L1,GAS2L1,GAS2L1,.,GAS2L1,GAS2L1,GAS2L1,GAS2L1,RASL10A,GAS2L1,GAS2L1,RASL10A,RASL10A,GAS2L1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152374;gnomADv4_1_AC_joint_XX=77865;gnomADv4_1_AC_joint_XY=74509;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999987;gnomADv4_1_AF_joint_XX=0.999987;gnomADv4_1_AF_joint_XY=0.999987;gnomADv4_1_AN_grpmax_joint=68078;gnomADv4_1_AN_joint=152376;gnomADv4_1_AN_joint_XX=77866;gnomADv4_1_AN_joint_XY=74510;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76186;gnomADv4_1_nhomalt_joint_XX=38932;gnomADv4_1_nhomalt_joint_XY=37254;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29319984 chr22_29319984_C_CA C CA 16 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=16;CADDIndel_PHREDscore=1.069;CADDIndel_Rawscore=-0.000428;CSQ=A|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000216101|protein_coding||||||||||rs1213513086|4287|-1||HGNC|HGNC:16954|1|CCDS13854.1|ENSP00000216101|Q92737.180||UPI00001348FD|Q92737-1||Ensembl|||||||chr22:g.29320005dup|||||||||||||,A|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000401450|protein_coding||||||||||rs1213513086|4292|-1||HGNC|HGNC:16954|2||ENSP00000386095|Q92737.180||UPI000020749D|Q92737-2||Ensembl|||||||chr22:g.29320005dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000273216|Transcript|ENST00000608014|lncRNA||||||||||rs1213513086|2764|-1||||||||||||Ensembl|||||||chr22:g.29320005dup|||||||||||||,A|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||||||||||rs1213513086|305|-1||HGNC|HGNC:16954|5||||||||Ensembl|||||||chr22:g.29320005dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||||||||||rs1213513086|4003|-1||||||||||||Ensembl|||||||chr22:g.29320005dup|||||||||||||,A|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|NM_006477.5|protein_coding||||||||||rs1213513086|4287|-1||EntrezGene|HGNC:16954|||NP_006468.1||||||RefSeq|||||||chr22:g.29320005dup|||||||||||||,A|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding||||||||||rs1213513086|2666|-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq|||||||chr22:g.29320005dup|||||||||||||,A|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs1213513086|125|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq|||||||chr22:g.29320005dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216101,ENST00000401450,ENST00000608014,ENST00000608559,ENST00000780180,NM_006477.5,XM_011529822.1,XM_011529823.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100276,ENSG00000100276,ENSG00000273216,ENSG00000100276,ENSG00000301612,10633,10633,10633;VEP_SYMBOL=RASL10A,RASL10A,.,RASL10A,.,RASL10A,RASL10A,RASL10A;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9175;gnomADv4_1_AC_joint_XX=5074;gnomADv4_1_AC_joint_XY=4101;gnomADv4_1_AF_grpmax_joint=0.389558;gnomADv4_1_AF_joint=0.167868;gnomADv4_1_AF_joint_XX=0.172339;gnomADv4_1_AF_joint_XY=0.162648;gnomADv4_1_AN_grpmax_joint=1992;gnomADv4_1_AN_joint=54656;gnomADv4_1_AN_joint_XX=29442;gnomADv4_1_AN_joint_XY=25214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=781;gnomADv4_1_nhomalt_joint_XX=456;gnomADv4_1_nhomalt_joint_XY=325;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29320284 chr22_29320284_CA_C CA C 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.299;CADDIndel_Rawscore=-0.322914;CSQ=-|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000216101|protein_coding||||||||||rs35356656|4588|-1||HGNC|HGNC:16954|1|CCDS13854.1|ENSP00000216101|Q92737.180||UPI00001348FD|Q92737-1||Ensembl||A|A||||chr22:g.29320302del|||||||||||||,-|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000401450|protein_coding||||||||||rs35356656|4593|-1||HGNC|HGNC:16954|2||ENSP00000386095|Q92737.180||UPI000020749D|Q92737-2||Ensembl||A|A||||chr22:g.29320302del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000273216|Transcript|ENST00000608014|lncRNA||||||||||rs35356656|3065|-1||||||||||||Ensembl||A|A||||chr22:g.29320302del|||||||||||||,-|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||||||||||rs35356656|606|-1||HGNC|HGNC:16954|5||||||||Ensembl||A|A||||chr22:g.29320302del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000301612|Transcript|ENST00000780180|lncRNA||||||||||rs35356656|4304|-1||||||||||||Ensembl||A|A||||chr22:g.29320302del|||||||||||||,-|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|NM_006477.5|protein_coding||||||||||rs35356656|4588|-1||EntrezGene|HGNC:16954|||NP_006468.1||||||RefSeq||A|A||||chr22:g.29320302del|||||||||||||,-|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding||||||||||rs35356656|2967|-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||A|A||||chr22:g.29320302del|||||||||||||,-|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs35356656|426|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||A|A||||chr22:g.29320302del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216101,ENST00000401450,ENST00000608014,ENST00000608559,ENST00000780180,NM_006477.5,XM_011529822.1,XM_011529823.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100276,ENSG00000100276,ENSG00000273216,ENSG00000100276,ENSG00000301612,10633,10633,10633;VEP_SYMBOL=RASL10A,RASL10A,.,RASL10A,.,RASL10A,RASL10A,RASL10A;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=51610;gnomADv4_1_AC_joint_XX=26804;gnomADv4_1_AC_joint_XY=24806;gnomADv4_1_AF_grpmax_joint=0.536807;gnomADv4_1_AF_joint=0.430809;gnomADv4_1_AF_joint_XX=0.428371;gnomADv4_1_AF_joint_XY=0.433474;gnomADv4_1_AN_grpmax_joint=11900;gnomADv4_1_AN_joint=119798;gnomADv4_1_AN_joint_XX=62572;gnomADv4_1_AN_joint_XY=57226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=9573;gnomADv4_1_nhomalt_joint_XX=4924;gnomADv4_1_nhomalt_joint_XY=4649;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29321337 chr22_29321337_T_C T C 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.139;CADD_Rawscore=0.015901;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000273216|Transcript|ENST00000608014|lncRNA||||||||||rs2519486|4117|-1||||||||||||Ensembl||T|T||||chr22:g.29321337T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||||||||||rs2519486|1658|-1||HGNC|HGNC:16954|5||||||||Ensembl||T|T||||chr22:g.29321337T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding||||||||||rs2519486|4019|-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||T|T||||chr22:g.29321337T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs2519486|1478|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||T|T||||chr22:g.29321337T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000608014,ENST00000608559,XM_011529822.1,XM_011529823.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000273216,ENSG00000100276,10633,10633;VEP_SYMBOL=.,RASL10A,RASL10A,RASL10A;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=105749;gnomADv4_1_AC_joint_XX=54503;gnomADv4_1_AC_joint_XY=51246;gnomADv4_1_AF_grpmax_joint=0.90393;gnomADv4_1_AF_joint=0.695059;gnomADv4_1_AF_joint_XX=0.700805;gnomADv4_1_AF_joint_XY=0.68905;gnomADv4_1_AN_grpmax_joint=41522;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=38124;gnomADv4_1_nhomalt_joint_XX=19776;gnomADv4_1_nhomalt_joint_XY=18348;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29321727 chr22_29321727_G_A G A 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.981;CADD_Rawscore=-0.022815;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000273216|Transcript|ENST00000608014|lncRNA||||||||||rs5763138|4507|-1||||||||||||Ensembl||G|G||||chr22:g.29321727G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||||||||||rs5763138|2048|-1||HGNC|HGNC:16954|5||||||||Ensembl||G|G||||chr22:g.29321727G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding||||||||||rs5763138|4409|-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||G|G||||chr22:g.29321727G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs5763138|1868|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||G|G||||chr22:g.29321727G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000608014,ENST00000608559,XM_011529822.1,XM_011529823.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000273216,ENSG00000100276,10633,10633;VEP_SYMBOL=.,RASL10A,RASL10A,RASL10A;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=73927;gnomADv4_1_AC_joint_XX=37717;gnomADv4_1_AC_joint_XY=36210;gnomADv4_1_AF_grpmax_joint=0.567562;gnomADv4_1_AF_joint=0.486708;gnomADv4_1_AF_joint_XX=0.485668;gnomADv4_1_AF_joint_XY=0.487795;gnomADv4_1_AN_grpmax_joint=41414;gnomADv4_1_AN_joint=151892;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=74232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18273;gnomADv4_1_nhomalt_joint_XX=9335;gnomADv4_1_nhomalt_joint_XY=8938;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29321813 chr22_29321813_A_G A G 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=3.743;CADD_Rawscore=0.342446;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000273216|Transcript|ENST00000608014|lncRNA||||||||||rs5763139|4593|-1||||||||||||Ensembl||A|A||||chr22:g.29321813A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||||||||||rs5763139|2134|-1||HGNC|HGNC:16954|5||||||||Ensembl||A|A||||chr22:g.29321813A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529822.1|protein_coding||||||||||rs5763139|4495|-1||EntrezGene|HGNC:16954|||XP_011528124.1||||||RefSeq||A|A||||chr22:g.29321813A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs5763139|1954|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||A|A||||chr22:g.29321813A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000608014,ENST00000608559,XM_011529822.1,XM_011529823.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000273216,ENSG00000100276,10633,10633;VEP_SYMBOL=.,RASL10A,RASL10A,RASL10A;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=50669;gnomADv4_1_AC_joint_XX=25522;gnomADv4_1_AC_joint_XY=25147;gnomADv4_1_AF_grpmax_joint=0.473332;gnomADv4_1_AF_joint=0.333121;gnomADv4_1_AF_joint_XX=0.32824;gnomADv4_1_AF_joint_XY=0.338225;gnomADv4_1_AN_grpmax_joint=15262;gnomADv4_1_AN_joint=152104;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=9456;gnomADv4_1_nhomalt_joint_XX=4679;gnomADv4_1_nhomalt_joint_XY=4777;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29322332 chr22_29322332_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.815;CADD_Rawscore=-0.070452;CSQ=T|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||||||||||rs5763140|2653|-1||HGNC|HGNC:16954|5||||||||Ensembl||C|C||||chr22:g.29322332C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs5763140|2473|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||C|C||||chr22:g.29322332C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000608559,XM_011529823.2;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000100276,10633;VEP_SYMBOL=RASL10A,RASL10A;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=16063;gnomADv4_1_AC_joint_XX=8286;gnomADv4_1_AC_joint_XY=7777;gnomADv4_1_AF_grpmax_joint=0.283924;gnomADv4_1_AF_joint=0.105511;gnomADv4_1_AF_joint_XX=0.106487;gnomADv4_1_AF_joint_XY=0.10449;gnomADv4_1_AN_grpmax_joint=5188;gnomADv4_1_AN_joint=152240;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=970;gnomADv4_1_nhomalt_joint_XX=484;gnomADv4_1_nhomalt_joint_XY=486;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29322915 chr22_29322915_G_A G A 28 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=28;CADD_PHREDscore=0.243;CADD_Rawscore=-0.375782;CSQ=A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||||||||||rs2106108|4950|-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29322915G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||||||||||rs2106108|4765|-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29322915G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||||||||||rs2106108|4767|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29322915G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||||||||||rs2106108|4767|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29322915G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000482818|retained_intron||||||||||rs2106108|4765|-1||HGNC|HGNC:554|1||||||||Ensembl||G|G||1||chr22:g.29322915G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||||||||||rs2106108|3236|-1||HGNC|HGNC:16954|5||||||||Ensembl||G|G||||chr22:g.29322915G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||||||||||rs2106108|4765|-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29322915G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||||||||||rs2106108|4765|-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29322915G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||||||||||rs2106108|4765|-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29322915G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||||||||||rs2106108|4765|-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29322915G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||||||||||rs2106108|4765|-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29322915G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||||||||||rs2106108|4765|-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29322915G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||||||||||rs2106108|4765|-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29322915G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||||||||||rs2106108|4765|-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29322915G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs2106108|3056|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||G|G||||chr22:g.29322915G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000482818,ENST00000608559,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3,XM_011529823.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100276,162,162,162,162,162,162,162,162,10633;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RASL10A,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RASL10A;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=85101;gnomADv4_1_AC_joint_XX=45081;gnomADv4_1_AC_joint_XY=40020;gnomADv4_1_AF_grpmax_joint=0.847239;gnomADv4_1_AF_joint=0.787447;gnomADv4_1_AF_joint_XX=0.781489;gnomADv4_1_AF_joint_XY=0.794268;gnomADv4_1_AN_grpmax_joint=31618;gnomADv4_1_AN_joint=108072;gnomADv4_1_AN_joint_XX=57686;gnomADv4_1_AN_joint_XY=50386;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31074;gnomADv4_1_nhomalt_joint_XX=16242;gnomADv4_1_nhomalt_joint_XY=14832;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29323178 chr22_29323178_G_T G T 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=13.29;CADD_Rawscore=1.35632;CSQ=T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||||||||||rs6006093|4687|-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29323178G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||||||||||rs6006093|4502|-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29323178G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||||||||||rs6006093|4504|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29323178G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||||||||||rs6006093|4504|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29323178G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000482818|retained_intron||||||||||rs6006093|4502|-1||HGNC|HGNC:554|1||||||||Ensembl||G|G||1||chr22:g.29323178G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||||||||||rs6006093|3499|-1||HGNC|HGNC:16954|5||||||||Ensembl||G|G||||chr22:g.29323178G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||||||||||rs6006093|4502|-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29323178G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||||||||||rs6006093|4502|-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29323178G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||||||||||rs6006093|4502|-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29323178G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||||||||||rs6006093|4502|-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29323178G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||||||||||rs6006093|4502|-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29323178G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||||||||||rs6006093|4502|-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29323178G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||||||||||rs6006093|4502|-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29323178G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||||||||||rs6006093|4502|-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29323178G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs6006093|3319|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||G|G||||chr22:g.29323178G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000482818,ENST00000608559,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3,XM_011529823.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100276,162,162,162,162,162,162,162,162,10633;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RASL10A,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RASL10A;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29926;gnomADv4_1_AC_joint_XX=14904;gnomADv4_1_AC_joint_XY=15022;gnomADv4_1_AF_grpmax_joint=0.364325;gnomADv4_1_AF_joint=0.19699;gnomADv4_1_AF_joint_XX=0.191894;gnomADv4_1_AF_joint_XY=0.202322;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151916;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3150;gnomADv4_1_nhomalt_joint_XX=1516;gnomADv4_1_nhomalt_joint_XY=1634;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29324094 chr22_29324094_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=5.664;CADD_Rawscore=0.519595;CSQ=T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||||||||||rs117242792|3771|-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29324094C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||||||||||rs117242792|3586|-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29324094C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||||||||||rs117242792|3588|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29324094C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||||||||||rs117242792|3588|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29324094C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000482818|retained_intron||||||||||rs117242792|3586|-1||HGNC|HGNC:554|1||||||||Ensembl||C|C||1||chr22:g.29324094C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RASL10A|ENSG00000100276|Transcript|ENST00000608559|protein_coding_CDS_not_defined||||||||||rs117242792|4415|-1||HGNC|HGNC:16954|5||||||||Ensembl||C|C||||chr22:g.29324094C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||||||||||rs117242792|3586|-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29324094C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||||||||||rs117242792|3586|-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29324094C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||||||||||rs117242792|3586|-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29324094C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||||||||||rs117242792|3586|-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29324094C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||||||||||rs117242792|3586|-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29324094C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||||||||||rs117242792|3586|-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29324094C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||||||||||rs117242792|3586|-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29324094C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||||||||||rs117242792|3586|-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29324094C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RASL10A|10633|Transcript|XM_011529823.2|protein_coding||||||||||rs117242792|4235|-1||EntrezGene|HGNC:16954|||XP_011528125.1||||||RefSeq||C|C||||chr22:g.29324094C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000482818,ENST00000608559,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3,XM_011529823.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100276,162,162,162,162,162,162,162,162,10633;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RASL10A,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RASL10A;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3282;gnomADv4_1_AC_joint_XX=1702;gnomADv4_1_AC_joint_XY=1580;gnomADv4_1_AF_grpmax_joint=0.0340177;gnomADv4_1_AF_joint=0.021568;gnomADv4_1_AF_joint_XX=0.0218856;gnomADv4_1_AF_joint_XY=0.021236;gnomADv4_1_AN_grpmax_joint=67994;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=55;gnomADv4_1_nhomalt_joint_XX=29;gnomADv4_1_nhomalt_joint_XY=26;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29325172 chr22_29325172_G_A G A 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.037;CADD_Rawscore=-0.884942;CSQ=A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||||||||||rs174764|2693|-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29325172G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||||||||||rs174764|2508|-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29325172G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||||||||||rs174764|2510|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29325172G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||||||||||rs174764|2510|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29325172G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000482818|retained_intron||||||||||rs174764|2508|-1||HGNC|HGNC:554|1||||||||Ensembl||G|G||1||chr22:g.29325172G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||||||||||rs174764|2508|-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29325172G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||||||||||rs174764|2508|-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29325172G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||||||||||rs174764|2508|-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29325172G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||||||||||rs174764|2508|-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29325172G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||||||||||rs174764|2508|-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29325172G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||||||||||rs174764|2508|-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29325172G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||||||||||rs174764|2508|-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29325172G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||||||||||rs174764|2508|-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29325172G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000482818,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=101106;gnomADv4_1_AC_joint_XX=52044;gnomADv4_1_AC_joint_XY=49062;gnomADv4_1_AF_grpmax_joint=0.845965;gnomADv4_1_AF_joint=0.66455;gnomADv4_1_AF_joint_XX=0.669152;gnomADv4_1_AF_joint_XY=0.659737;gnomADv4_1_AN_grpmax_joint=41536;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=34647;gnomADv4_1_nhomalt_joint_XX=17931;gnomADv4_1_nhomalt_joint_XY=16716;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29325913 chr22_29325913_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.198;CADD_Rawscore=0.474485;CSQ=A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||||||||||rs9613863|1952|-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29325913G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||||||||||rs9613863|1767|-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29325913G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||||||||||rs9613863|1769|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29325913G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||||||||||rs9613863|1769|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29325913G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000482818|retained_intron||||||||||rs9613863|1767|-1||HGNC|HGNC:554|1||||||||Ensembl||G|G||1||chr22:g.29325913G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||||||||||rs9613863|1767|-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29325913G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||||||||||rs9613863|1767|-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29325913G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||||||||||rs9613863|1767|-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29325913G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||||||||||rs9613863|1767|-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29325913G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||||||||||rs9613863|1767|-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29325913G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||||||||||rs9613863|1767|-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29325913G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||||||||||rs9613863|1767|-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29325913G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||||||||||rs9613863|1767|-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29325913G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000482818,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21675;gnomADv4_1_AC_joint_XX=10561;gnomADv4_1_AC_joint_XY=11114;gnomADv4_1_AF_grpmax_joint=0.362302;gnomADv4_1_AF_joint=0.142471;gnomADv4_1_AF_joint_XX=0.135801;gnomADv4_1_AF_joint_XY=0.149446;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2117;gnomADv4_1_nhomalt_joint_XX=979;gnomADv4_1_nhomalt_joint_XY=1138;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29329904 chr22_29329904_T_C T C 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=14.81;CADD_Rawscore=1.60997;CSQ=C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||20/20|ENST00000317368.11:c.2685+474A>G|||||||rs2071578||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22:g.29329904T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||21/22|ENST00000357586.7:c.2767-184A>G|||||||rs2071578||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22:g.29329904T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||20/20|ENST00000405198.6:c.2745+474A>G|||||||rs2071578||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29329904T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||20/20|ENST00000432560.6:c.2745+474A>G|||||||rs2071578||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29329904T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|Transcript|ENST00000459538|snoRNA||||||||||rs2071578|3259|-1||HGNC|HGNC:33564|||||||||Ensembl||T|T||||chr22:g.29329904T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000472057|protein_coding_CDS_not_defined||||||||||rs2071578|1553|-1||HGNC|HGNC:554|3||||||||Ensembl||T|T||1||chr22:g.29329904T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000482818|retained_intron|4/4||ENST00000482818.1:n.1336A>G||1336|||||rs2071578||-1||HGNC|HGNC:554|1||||||||Ensembl||T|T||1||chr22:g.29329904T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000280968|Transcript|ENST00000625572|miRNA||||||||||rs2071578|3254|-1||||||||||||Ensembl||T|T||||chr22:g.29329904T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||21/22|NM_001127.4:c.2767-184A>G|||||||rs2071578||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||T|T||||chr22:g.29329904T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||20/20|NM_001166019.2:c.2685+474A>G|||||||rs2071578||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||T|T||||chr22:g.29329904T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||21/21|NM_001378562.1:c.2766+474A>G|||||||rs2071578||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||T|T||||chr22:g.29329904T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||20/21|NM_001378563.1:c.2746-184A>G|||||||rs2071578||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||T|T||||chr22:g.29329904T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||20/20|NM_001378564.1:c.2595+474A>G|||||||rs2071578||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||T|T||||chr22:g.29329904T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||19/20|NM_001378565.1:c.2575-184A>G|||||||rs2071578||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||T|T||||chr22:g.29329904T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||20/20|NM_001378566.1:c.2559+474A>G|||||||rs2071578||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||T|T||||chr22:g.29329904T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||20/20|NM_145730.3:c.2745+474A>G|||||||rs2071578||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||T|T||||chr22:g.29329904T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD125|100113380|Transcript|NR_003686.1|snoRNA||||||||||rs2071578|3259|-1||EntrezGene|HGNC:33564|||||||||RefSeq||T|T||||chr22:g.29329904T>C|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|18|-37|-36|-27;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000459538,ENST00000472057,ENST00000482818,ENST00000625572,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3,NR_003686.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000239127,ENSG00000100280,ENSG00000100280,ENSG00000280968,162,162,162,162,162,162,162,162,100113380;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,SNORD125,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,SNORD125;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=940238;gnomADv4_1_AC_joint_XX=486413;gnomADv4_1_AC_joint_XY=453825;gnomADv4_1_AF_grpmax_joint=0.907068;gnomADv4_1_AF_joint=0.650974;gnomADv4_1_AF_joint_XX=0.654233;gnomADv4_1_AF_joint_XY=0.647517;gnomADv4_1_AN_grpmax_joint=69890;gnomADv4_1_AN_joint=1444356;gnomADv4_1_AN_joint_XX=743486;gnomADv4_1_AN_joint_XY=700870;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=309624;gnomADv4_1_nhomalt_joint_XX=160803;gnomADv4_1_nhomalt_joint_XY=148821;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29331877 chr22_29331877_C_T C T 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.681;CADD_Rawscore=-0.115815;CSQ=T|synonymous_variant|LOW|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding|17/21||ENST00000317368.11%3Ac.2268G>A|ENSP00000319361.7%3Ap.Ala756%3D|2455|2268|756|A|gcG/gcA|rs174765||-1||HGNC|HGNC%3A554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22%3Ag.29331877C>T|benign||1||||||||||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding|18/23||ENST00000357586.7%3Ac.2349G>A|ENSP00000350199.2%3Ap.Ala783%3D|2523|2349|783|A|gcG/gcA|rs174765||-1||HGNC|HGNC%3A554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22%3Ag.29331877C>T|benign||1||||||||||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding|17/21||ENST00000405198.6%3Ac.2328G>A|ENSP00000384194.2%3Ap.Ala776%3D|2515|2328|776|A|gcG/gcA|rs174765||-1||HGNC|HGNC%3A554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22%3Ag.29331877C>T|benign||1||||||||||,T|synonymous_variant|LOW|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding|17/21||ENST00000432560.6%3Ac.2328G>A|ENSP00000400065.2%3Ap.Ala776%3D|2515|2328|776|A|gcG/gcA|rs174765||-1||HGNC|HGNC%3A554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22%3Ag.29331877C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|Transcript|ENST00000459538|snoRNA||||||||||rs174765|1286|-1||HGNC|HGNC:33564|||||||||Ensembl||C|C||||chr22:g.29331877C>T|benign||1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000472057|protein_coding_CDS_not_defined|4/5||ENST00000472057.1:n.512G>A||512|||||rs174765||-1||HGNC|HGNC:554|3||||||||Ensembl||C|C||1||chr22:g.29331877C>T|benign||1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000482818|retained_intron|1/4||ENST00000482818.1:n.445G>A||445|||||rs174765||-1||HGNC|HGNC:554|1||||||||Ensembl||C|C||1||chr22:g.29331877C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000280968|Transcript|ENST00000625572|miRNA||||||||||rs174765|1281|-1||||||||||||Ensembl||C|C||||chr22:g.29331877C>T|benign||1||||||||||,T|synonymous_variant|LOW|AP1B1|162|Transcript|NM_001127.4|protein_coding|18/23||NM_001127.4%3Ac.2349G>A|NP_001118.3%3Ap.Ala783%3D|2523|2349|783|A|gcG/gcA|rs174765||-1||EntrezGene|HGNC%3A554|||NP_001118.3||||||RefSeq||C|C||||chr22%3Ag.29331877C>T|benign||1||||||||||,T|synonymous_variant|LOW|AP1B1|162|Transcript|NM_001166019.2|protein_coding|17/21||NM_001166019.2%3Ac.2268G>A|NP_001159491.1%3Ap.Ala756%3D|2442|2268|756|A|gcG/gcA|rs174765||-1||EntrezGene|HGNC%3A554|||NP_001159491.1||||||RefSeq||C|C||||chr22%3Ag.29331877C>T|benign||1||||||||||,T|synonymous_variant|LOW|AP1B1|162|Transcript|NM_001378562.1|protein_coding|18/22||NM_001378562.1%3Ac.2349G>A|NP_001365491.1%3Ap.Ala783%3D|2523|2349|783|A|gcG/gcA|rs174765||-1||EntrezGene|HGNC%3A554|||NP_001365491.1||||||RefSeq||C|C||||chr22%3Ag.29331877C>T|benign||1||||||||||,T|synonymous_variant|LOW|AP1B1|162|Transcript|NM_001378563.1|protein_coding|17/22||NM_001378563.1%3Ac.2328G>A|NP_001365492.1%3Ap.Ala776%3D|2502|2328|776|A|gcG/gcA|rs174765||-1||EntrezGene|HGNC%3A554|||NP_001365492.1||||||RefSeq||C|C||||chr22%3Ag.29331877C>T|benign||1||||||||||,T|synonymous_variant|LOW|AP1B1|162|Transcript|NM_001378564.1|protein_coding|17/21||NM_001378564.1%3Ac.2178G>A|NP_001365493.1%3Ap.Ala726%3D|2417|2178|726|A|gcG/gcA|rs174765||-1||EntrezGene|HGNC%3A554|||NP_001365493.1||||||RefSeq||C|C||||chr22%3Ag.29331877C>T|benign||1||||||||||,T|synonymous_variant|LOW|AP1B1|162|Transcript|NM_001378565.1|protein_coding|16/21||NM_001378565.1%3Ac.2157G>A|NP_001365494.1%3Ap.Ala719%3D|2396|2157|719|A|gcG/gcA|rs174765||-1||EntrezGene|HGNC%3A554|||NP_001365494.1||||||RefSeq||C|C||||chr22%3Ag.29331877C>T|benign||1||||||||||,T|synonymous_variant|LOW|AP1B1|162|Transcript|NM_001378566.1|protein_coding|17/21||NM_001378566.1%3Ac.2142G>A|NP_001365495.1%3Ap.Ala714%3D|2316|2142|714|A|gcG/gcA|rs174765||-1||EntrezGene|HGNC%3A554|||NP_001365495.1||||||RefSeq||C|C||||chr22%3Ag.29331877C>T|benign||1||||||||||,T|synonymous_variant|LOW|AP1B1|162|Transcript|NM_145730.3|protein_coding|17/21||NM_145730.3%3Ac.2328G>A|NP_663782.2%3Ap.Ala776%3D|2502|2328|776|A|gcG/gcA|rs174765||-1||EntrezGene|HGNC%3A554|||NP_663782.2||||||RefSeq||C|C||||chr22%3Ag.29331877C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|SNORD125|100113380|Transcript|NR_003686.1|snoRNA||||||||||rs174765|1286|-1||EntrezGene|HGNC:33564|||||||||RefSeq||C|C||||chr22:g.29331877C>T|benign||1||||||||||;ClinVar_CLNDN=Autosomal_recessive_keratitis-ichthyosis-deafness_syndrome|not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29331877C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=AP1B1:162;ClinVar_Variation_ID=1192401;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.02|0.02|0.00|0.00|8|39|-48|-45;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000459538,ENST00000472057,ENST00000482818,ENST00000625572,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3,NR_003686.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000239127,ENSG00000100280,ENSG00000100280,ENSG00000280968,162,162,162,162,162,162,162,162,100113380;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,SNORD125,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,SNORD125;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=895488;gnomADv4_1_AC_joint_XX=452421;gnomADv4_1_AC_joint_XY=443067;gnomADv4_1_AF_grpmax_joint=0.684166;gnomADv4_1_AF_joint=0.555235;gnomADv4_1_AF_joint_XX=0.557285;gnomADv4_1_AF_joint_XY=0.553158;gnomADv4_1_AN_grpmax_joint=44840;gnomADv4_1_AN_joint=1612808;gnomADv4_1_AN_joint_XX=811830;gnomADv4_1_AN_joint_XY=800978;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=251050;gnomADv4_1_nhomalt_joint_XX=127134;gnomADv4_1_nhomalt_joint_XY=123916;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29332794 chr22_29332794_T_C T C 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=0.053;CADD_Rawscore=-0.786555;CSQ=C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||16/20|ENST00000317368.11:c.2229-878A>G|||||||rs3788411||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22:g.29332794T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||17/22|ENST00000357586.7:c.2310-878A>G|||||||rs3788411||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22:g.29332794T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||16/20|ENST00000405198.6:c.2289-878A>G|||||||rs3788411||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29332794T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||16/20|ENST00000432560.6:c.2289-878A>G|||||||rs3788411||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29332794T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|Transcript|ENST00000459538|snoRNA||||||||||rs3788411|369|-1||HGNC|HGNC:33564|||||||||Ensembl||T|T||||chr22:g.29332794T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000472057|protein_coding_CDS_not_defined||3/4|ENST00000472057.1:n.473-878A>G|||||||rs3788411||-1||HGNC|HGNC:554|3||||||||Ensembl||T|T||1||chr22:g.29332794T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000482818|retained_intron||||||||||rs3788411|473|-1||HGNC|HGNC:554|1||||||||Ensembl||T|T||1||chr22:g.29332794T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000280968|Transcript|ENST00000625572|miRNA||||||||||rs3788411|364|-1||||||||||||Ensembl||T|T||||chr22:g.29332794T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||17/22|NM_001127.4:c.2310-878A>G|||||||rs3788411||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||T|T||||chr22:g.29332794T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||16/20|NM_001166019.2:c.2229-878A>G|||||||rs3788411||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||T|T||||chr22:g.29332794T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||17/21|NM_001378562.1:c.2310-878A>G|||||||rs3788411||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||T|T||||chr22:g.29332794T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||16/21|NM_001378563.1:c.2289-878A>G|||||||rs3788411||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||T|T||||chr22:g.29332794T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||16/20|NM_001378564.1:c.2139-878A>G|||||||rs3788411||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||T|T||||chr22:g.29332794T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||15/20|NM_001378565.1:c.2118-878A>G|||||||rs3788411||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||T|T||||chr22:g.29332794T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||16/20|NM_001378566.1:c.2103-878A>G|||||||rs3788411||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||T|T||||chr22:g.29332794T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||16/20|NM_145730.3:c.2289-878A>G|||||||rs3788411||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||T|T||||chr22:g.29332794T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD125|100113380|Transcript|NR_003686.1|snoRNA||||||||||rs3788411|369|-1||EntrezGene|HGNC:33564|||||||||RefSeq||T|T||||chr22:g.29332794T>C|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|-1|-22|1|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000459538,ENST00000472057,ENST00000482818,ENST00000625572,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3,NR_003686.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000239127,ENSG00000100280,ENSG00000100280,ENSG00000280968,162,162,162,162,162,162,162,162,100113380;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,SNORD125,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,SNORD125;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52365;gnomADv4_1_AC_joint_XX=26384;gnomADv4_1_AC_joint_XY=25981;gnomADv4_1_AF_grpmax_joint=0.478346;gnomADv4_1_AF_joint=0.344167;gnomADv4_1_AF_joint_XX=0.339239;gnomADv4_1_AF_joint_XY=0.34932;gnomADv4_1_AN_grpmax_joint=15286;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=9747;gnomADv4_1_nhomalt_joint_XX=4836;gnomADv4_1_nhomalt_joint_XY=4911;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29332865 chr22_29332865_A_T A T 58 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.261;CADD_Rawscore=0.042566;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||16/20|ENST00000317368.11:c.2229-949T>A|||||||rs9613864||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29332865A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||17/22|ENST00000357586.7:c.2310-949T>A|||||||rs9613864||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29332865A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||16/20|ENST00000405198.6:c.2289-949T>A|||||||rs9613864||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29332865A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||16/20|ENST00000432560.6:c.2289-949T>A|||||||rs9613864||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29332865A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|Transcript|ENST00000459538|snoRNA||||||||||rs9613864|298|-1||HGNC|HGNC:33564|||||||||Ensembl||A|A||||chr22:g.29332865A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000472057|protein_coding_CDS_not_defined||3/4|ENST00000472057.1:n.473-949T>A|||||||rs9613864||-1||HGNC|HGNC:554|3||||||||Ensembl||A|A||1||chr22:g.29332865A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000482818|retained_intron||||||||||rs9613864|544|-1||HGNC|HGNC:554|1||||||||Ensembl||A|A||1||chr22:g.29332865A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000280968|Transcript|ENST00000625572|miRNA||||||||||rs9613864|293|-1||||||||||||Ensembl||A|A||||chr22:g.29332865A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||17/22|NM_001127.4:c.2310-949T>A|||||||rs9613864||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29332865A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||16/20|NM_001166019.2:c.2229-949T>A|||||||rs9613864||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29332865A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||17/21|NM_001378562.1:c.2310-949T>A|||||||rs9613864||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29332865A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||16/21|NM_001378563.1:c.2289-949T>A|||||||rs9613864||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29332865A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||16/20|NM_001378564.1:c.2139-949T>A|||||||rs9613864||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29332865A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||15/20|NM_001378565.1:c.2118-949T>A|||||||rs9613864||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29332865A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||16/20|NM_001378566.1:c.2103-949T>A|||||||rs9613864||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29332865A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||16/20|NM_145730.3:c.2289-949T>A|||||||rs9613864||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29332865A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|SNORD125|100113380|Transcript|NR_003686.1|snoRNA||||||||||rs9613864|298|-1||EntrezGene|HGNC:33564|||||||||RefSeq||A|A||||chr22:g.29332865A>T|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.00|0.00|36|34|6|34;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000459538,ENST00000472057,ENST00000482818,ENST00000625572,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3,NR_003686.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000239127,ENSG00000100280,ENSG00000100280,ENSG00000280968,162,162,162,162,162,162,162,162,100113380;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,SNORD125,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,SNORD125;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19909;gnomADv4_1_AC_joint_XX=9784;gnomADv4_1_AC_joint_XY=10125;gnomADv4_1_AF_grpmax_joint=0.299129;gnomADv4_1_AF_joint=0.130774;gnomADv4_1_AF_joint_XX=0.125742;gnomADv4_1_AF_joint_XY=0.136034;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152240;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1697;gnomADv4_1_nhomalt_joint_XX=794;gnomADv4_1_nhomalt_joint_XY=903;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29334013 chr22_29334013_C_T C T 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.117;CADD_Rawscore=-0.568509;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||16/20|ENST00000317368.11:c.2228+252G>A|||||||rs5763144||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29334013C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||17/22|ENST00000357586.7:c.2309+252G>A|||||||rs5763144||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29334013C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||16/20|ENST00000405198.6:c.2288+252G>A|||||||rs5763144||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29334013C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||16/20|ENST00000432560.6:c.2288+252G>A|||||||rs5763144||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29334013C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|Transcript|ENST00000459538|snoRNA||||||||||rs5763144|755|-1||HGNC|HGNC:33564|||||||||Ensembl||C|C||||chr22:g.29334013C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000472057|protein_coding_CDS_not_defined||3/4|ENST00000472057.1:n.472+252G>A|||||||rs5763144||-1||HGNC|HGNC:554|3||||||||Ensembl||C|C||1||chr22:g.29334013C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000482818|retained_intron||||||||||rs5763144|1692|-1||HGNC|HGNC:554|1||||||||Ensembl||C|C||1||chr22:g.29334013C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000280968|Transcript|ENST00000625572|miRNA||||||||||rs5763144|746|-1||||||||||||Ensembl||C|C||||chr22:g.29334013C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||17/22|NM_001127.4:c.2309+252G>A|||||||rs5763144||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29334013C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||16/20|NM_001166019.2:c.2228+252G>A|||||||rs5763144||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29334013C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||17/21|NM_001378562.1:c.2309+252G>A|||||||rs5763144||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29334013C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||16/21|NM_001378563.1:c.2288+252G>A|||||||rs5763144||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29334013C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||16/20|NM_001378564.1:c.2138+252G>A|||||||rs5763144||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29334013C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||15/20|NM_001378565.1:c.2117+252G>A|||||||rs5763144||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29334013C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||16/20|NM_001378566.1:c.2102+252G>A|||||||rs5763144||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29334013C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||16/20|NM_145730.3:c.2288+252G>A|||||||rs5763144||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29334013C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|SNORD125|100113380|Transcript|NR_003686.1|snoRNA||||||||||rs5763144|755|-1||EntrezGene|HGNC:33564|||||||||RefSeq||C|C||||chr22:g.29334013C>T|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.01|0.00|0.00|0.00|24|50|-25|-16;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000459538,ENST00000472057,ENST00000482818,ENST00000625572,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3,NR_003686.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000239127,ENSG00000100280,ENSG00000100280,ENSG00000280968,162,162,162,162,162,162,162,162,100113380;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,SNORD125,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,SNORD125;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52509;gnomADv4_1_AC_joint_XX=26548;gnomADv4_1_AC_joint_XY=25961;gnomADv4_1_AF_grpmax_joint=0.653073;gnomADv4_1_AF_joint=0.345263;gnomADv4_1_AF_joint_XX=0.34155;gnomADv4_1_AF_joint_XY=0.349145;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9426;gnomADv4_1_nhomalt_joint_XX=4699;gnomADv4_1_nhomalt_joint_XY=4727;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29334636 chr22_29334636_A_G A G 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.079;CADD_Rawscore=-0.674185;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||15/20|ENST00000317368.11:c.2143-286T>C|||||||rs98069||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29334636A>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||16/22|ENST00000357586.7:c.2164-226T>C|||||||rs98069||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29334636A>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||15/20|ENST00000405198.6:c.2143-226T>C|||||||rs98069||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29334636A>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||15/20|ENST00000432560.6:c.2143-226T>C|||||||rs98069||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29334636A>G|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|SNORD125|ENSG00000239127|Transcript|ENST00000459538|snoRNA||||||||||rs98069|1378|-1||HGNC|HGNC:33564|||||||||Ensembl||A|A||||chr22:g.29334636A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000472057|protein_coding_CDS_not_defined||2/4|ENST00000472057.1:n.327-226T>C|||||||rs98069||-1||HGNC|HGNC:554|3||||||||Ensembl||A|A||1||chr22:g.29334636A>G|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000482818|retained_intron||||||||||rs98069|2315|-1||HGNC|HGNC:554|1||||||||Ensembl||A|A||1||chr22:g.29334636A>G|benign||1||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000280968|Transcript|ENST00000625572|miRNA||||||||||rs98069|1369|-1||||||||||||Ensembl||A|A||||chr22:g.29334636A>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||16/22|NM_001127.4:c.2164-226T>C|||||||rs98069||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29334636A>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||15/20|NM_001166019.2:c.2143-286T>C|||||||rs98069||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29334636A>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||16/21|NM_001378562.1:c.2164-226T>C|||||||rs98069||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29334636A>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||15/21|NM_001378563.1:c.2143-226T>C|||||||rs98069||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29334636A>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||15/20|NM_001378564.1:c.1993-226T>C|||||||rs98069||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29334636A>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||14/20|NM_001378565.1:c.1972-226T>C|||||||rs98069||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29334636A>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||15/20|NM_001378566.1:c.1957-226T>C|||||||rs98069||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29334636A>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||15/20|NM_145730.3:c.2143-226T>C|||||||rs98069||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29334636A>G|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|SNORD125|100113380|Transcript|NR_003686.1|snoRNA||||||||||rs98069|1378|-1||EntrezGene|HGNC:33564|||||||||RefSeq||A|A||||chr22:g.29334636A>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29334636A>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=AP1B1:162;ClinVar_Variation_ID=1232708;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.02|0.00|29|42|-44|42;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000459538,ENST00000472057,ENST00000482818,ENST00000625572,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3,NR_003686.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000239127,ENSG00000100280,ENSG00000100280,ENSG00000280968,162,162,162,162,162,162,162,162,100113380;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,SNORD125,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,SNORD125;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=100101;gnomADv4_1_AC_joint_XX=51560;gnomADv4_1_AC_joint_XY=48541;gnomADv4_1_AF_grpmax_joint=0.801253;gnomADv4_1_AF_joint=0.658204;gnomADv4_1_AF_joint_XX=0.663151;gnomADv4_1_AF_joint_XY=0.65303;gnomADv4_1_AN_grpmax_joint=41500;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=33674;gnomADv4_1_nhomalt_joint_XX=17451;gnomADv4_1_nhomalt_joint_XY=16223;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29338707 chr22_29338707_T_G T G 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.579;CADD_Rawscore=0.232222;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||15/20|ENST00000317368.11:c.2142+283A>C|||||||rs174766||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22:g.29338707T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||16/22|ENST00000357586.7:c.2163+283A>C|||||||rs174766||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22:g.29338707T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||15/20|ENST00000405198.6:c.2142+283A>C|||||||rs174766||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29338707T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||||||||||rs174766|2856|-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||T|T||1||chr22:g.29338707T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||15/20|ENST00000432560.6:c.2142+283A>C|||||||rs174766||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29338707T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000472057|protein_coding_CDS_not_defined||2/4|ENST00000472057.1:n.326+283A>C|||||||rs174766||-1||HGNC|HGNC:554|3||||||||Ensembl||T|T||1||chr22:g.29338707T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||16/22|NM_001127.4:c.2163+283A>C|||||||rs174766||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||T|T||||chr22:g.29338707T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||15/20|NM_001166019.2:c.2142+283A>C|||||||rs174766||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||T|T||||chr22:g.29338707T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||16/21|NM_001378562.1:c.2163+283A>C|||||||rs174766||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||T|T||||chr22:g.29338707T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||15/21|NM_001378563.1:c.2142+283A>C|||||||rs174766||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||T|T||||chr22:g.29338707T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||15/20|NM_001378564.1:c.1992+283A>C|||||||rs174766||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||T|T||||chr22:g.29338707T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||14/20|NM_001378565.1:c.1971+283A>C|||||||rs174766||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||T|T||||chr22:g.29338707T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||15/20|NM_001378566.1:c.1956+283A>C|||||||rs174766||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||T|T||||chr22:g.29338707T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||15/20|NM_145730.3:c.2142+283A>C|||||||rs174766||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||T|T||||chr22:g.29338707T>G|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.01|0.00|26|-22|26|-35;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000472057,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=102766;gnomADv4_1_AC_joint_XX=52930;gnomADv4_1_AC_joint_XY=49836;gnomADv4_1_AF_grpmax_joint=0.849095;gnomADv4_1_AF_joint=0.67635;gnomADv4_1_AF_joint_XX=0.681297;gnomADv4_1_AF_joint_XY=0.671174;gnomADv4_1_AN_grpmax_joint=41450;gnomADv4_1_AN_joint=151942;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=35723;gnomADv4_1_nhomalt_joint_XX=18512;gnomADv4_1_nhomalt_joint_XY=17211;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29338808 chr22_29338808_G_A G A 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=5.218;CADD_Rawscore=0.476464;CSQ=A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||15/20|ENST00000317368.11:c.2142+182C>T|||||||rs6006098||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29338808G>A|benign||1||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||16/22|ENST00000357586.7:c.2163+182C>T|||||||rs6006098||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29338808G>A|benign||1||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||15/20|ENST00000405198.6:c.2142+182C>T|||||||rs6006098||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29338808G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||||||||||rs6006098|2755|-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||G|G||1||chr22:g.29338808G>A|benign||1||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||15/20|ENST00000432560.6:c.2142+182C>T|||||||rs6006098||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29338808G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000472057|protein_coding_CDS_not_defined||2/4|ENST00000472057.1:n.326+182C>T|||||||rs6006098||-1||HGNC|HGNC:554|3||||||||Ensembl||G|G||1||chr22:g.29338808G>A|benign||1||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||16/22|NM_001127.4:c.2163+182C>T|||||||rs6006098||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29338808G>A|benign||1||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||15/20|NM_001166019.2:c.2142+182C>T|||||||rs6006098||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29338808G>A|benign||1||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||16/21|NM_001378562.1:c.2163+182C>T|||||||rs6006098||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29338808G>A|benign||1||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||15/21|NM_001378563.1:c.2142+182C>T|||||||rs6006098||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29338808G>A|benign||1||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||15/20|NM_001378564.1:c.1992+182C>T|||||||rs6006098||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29338808G>A|benign||1||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||14/20|NM_001378565.1:c.1971+182C>T|||||||rs6006098||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29338808G>A|benign||1||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||15/20|NM_001378566.1:c.1956+182C>T|||||||rs6006098||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29338808G>A|benign||1||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||15/20|NM_145730.3:c.2142+182C>T|||||||rs6006098||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29338808G>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29338808G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=AP1B1:162;ClinVar_Variation_ID=1282441;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|AP1B1|0.00|0.00|0.00|0.00|1|5|14|18;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000472057,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91310;gnomADv4_1_AC_joint_XX=46956;gnomADv4_1_AC_joint_XY=44354;gnomADv4_1_AF_grpmax_joint=0.69383;gnomADv4_1_AF_joint=0.601008;gnomADv4_1_AF_joint_XX=0.604418;gnomADv4_1_AF_joint_XY=0.597441;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151928;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=27691;gnomADv4_1_nhomalt_joint_XX=14323;gnomADv4_1_nhomalt_joint_XY=13368;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29339321 chr22_29339321_C_T C T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.098;CADD_Rawscore=-0.616611;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||14/20|ENST00000317368.11:c.1999-188G>A|||||||rs3747146||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29339321C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||15/22|ENST00000357586.7:c.2020-188G>A|||||||rs3747146||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29339321C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||14/20|ENST00000405198.6:c.1999-188G>A|||||||rs3747146||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29339321C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||||||||||rs3747146|2242|-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||C|C||1||chr22:g.29339321C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||14/20|ENST00000432560.6:c.1999-188G>A|||||||rs3747146||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29339321C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000472057|protein_coding_CDS_not_defined||1/4|ENST00000472057.1:n.183-188G>A|||||||rs3747146||-1||HGNC|HGNC:554|3||||||||Ensembl||C|C||1||chr22:g.29339321C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||15/22|NM_001127.4:c.2020-188G>A|||||||rs3747146||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29339321C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||14/20|NM_001166019.2:c.1999-188G>A|||||||rs3747146||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29339321C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||15/21|NM_001378562.1:c.2020-188G>A|||||||rs3747146||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29339321C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||14/21|NM_001378563.1:c.1999-188G>A|||||||rs3747146||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29339321C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||14/20|NM_001378564.1:c.1849-188G>A|||||||rs3747146||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29339321C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||13/20|NM_001378565.1:c.1828-188G>A|||||||rs3747146||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29339321C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||14/20|NM_001378566.1:c.1813-188G>A|||||||rs3747146||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29339321C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||14/20|NM_145730.3:c.1999-188G>A|||||||rs3747146||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29339321C>T|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29339321C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=AP1B1:162;ClinVar_Variation_ID=1281322;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.00|0.00|-2|5|-48|33;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000472057,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30246;gnomADv4_1_AC_joint_XX=15027;gnomADv4_1_AC_joint_XY=15219;gnomADv4_1_AF_grpmax_joint=0.361995;gnomADv4_1_AF_joint=0.19905;gnomADv4_1_AF_joint_XX=0.193467;gnomADv4_1_AF_joint_XY=0.204887;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151952;gnomADv4_1_AN_joint_XX=77672;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3219;gnomADv4_1_nhomalt_joint_XX=1544;gnomADv4_1_nhomalt_joint_XY=1675;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29341834 chr22_29341834_T_C T C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.401;CADD_Rawscore=-0.248706;CSQ=C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||12/20|ENST00000317368.11:c.1537-74A>G|||||||rs2301587||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22:g.29341834T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||12/22|ENST00000357586.7:c.1537-74A>G|||||||rs2301587||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22:g.29341834T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||12/20|ENST00000405198.6:c.1537-74A>G|||||||rs2301587||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29341834T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||12/12|ENST00000421126.5:c.1537-74A>G|||||||rs2301587||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||T|T||1||chr22:g.29341834T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||12/20|ENST00000432560.6:c.1537-74A>G|||||||rs2301587||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29341834T>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000472057|protein_coding_CDS_not_defined||||||||||rs2301587|997|-1||HGNC|HGNC:554|3||||||||Ensembl||T|T||1||chr22:g.29341834T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||12/22|NM_001127.4:c.1537-74A>G|||||||rs2301587||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||T|T||||chr22:g.29341834T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||12/20|NM_001166019.2:c.1537-74A>G|||||||rs2301587||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||T|T||||chr22:g.29341834T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||12/21|NM_001378562.1:c.1537-74A>G|||||||rs2301587||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||T|T||||chr22:g.29341834T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||12/21|NM_001378563.1:c.1537-74A>G|||||||rs2301587||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||T|T||||chr22:g.29341834T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||11/20|NM_001378564.1:c.1366-74A>G|||||||rs2301587||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||T|T||||chr22:g.29341834T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||11/20|NM_001378565.1:c.1366-74A>G|||||||rs2301587||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||T|T||||chr22:g.29341834T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||12/20|NM_001378566.1:c.1537-74A>G|||||||rs2301587||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||T|T||||chr22:g.29341834T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||12/20|NM_145730.3:c.1537-74A>G|||||||rs2301587||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||T|T||||chr22:g.29341834T>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29341834T>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=AP1B1:162;ClinVar_Variation_ID=1282877;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|-45|-14|5|30;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000472057,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=262165;gnomADv4_1_AC_joint_XX=135748;gnomADv4_1_AC_joint_XY=126417;gnomADv4_1_AF_grpmax_joint=0.320082;gnomADv4_1_AF_joint=0.172998;gnomADv4_1_AF_joint_XX=0.175891;gnomADv4_1_AF_joint_XY=0.169994;gnomADv4_1_AN_grpmax_joint=43442;gnomADv4_1_AN_joint=1515426;gnomADv4_1_AN_joint_XX=771772;gnomADv4_1_AN_joint_XY=743654;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24069;gnomADv4_1_nhomalt_joint_XX=12580;gnomADv4_1_nhomalt_joint_XY=11489;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29344739 chr22_29344739_A_G A G 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.264;CADD_Rawscore=-0.354549;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||11/20|ENST00000317368.11:c.1438-2356T>C|||||||rs174767||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29344739A>G|||1||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||11/22|ENST00000357586.7:c.1438-2356T>C|||||||rs174767||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29344739A>G|||1||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||11/20|ENST00000405198.6:c.1438-2356T>C|||||||rs174767||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29344739A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000415756|protein_coding||||||||||rs174767|4534|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:554|3||ENSP00000392735||H7C034.60|UPI0000E5A43C|||Ensembl||A|A||1||chr22:g.29344739A>G|||1||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||11/12|ENST00000421126.5:c.1438-2356T>C|||||||rs174767||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||A|A||1||chr22:g.29344739A>G|||1||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||11/20|ENST00000432560.6:c.1438-2356T>C|||||||rs174767||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29344739A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000472057|protein_coding_CDS_not_defined||||||||||rs174767|3902|-1||HGNC|HGNC:554|3||||||||Ensembl||A|A||1||chr22:g.29344739A>G|||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||11/22|NM_001127.4:c.1438-2356T>C|||||||rs174767||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29344739A>G|||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||11/20|NM_001166019.2:c.1438-2356T>C|||||||rs174767||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29344739A>G|||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||11/21|NM_001378562.1:c.1438-2356T>C|||||||rs174767||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29344739A>G|||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||11/21|NM_001378563.1:c.1438-2356T>C|||||||rs174767||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29344739A>G|||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||10/20|NM_001378564.1:c.1267-2356T>C|||||||rs174767||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29344739A>G|||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||10/20|NM_001378565.1:c.1267-2356T>C|||||||rs174767||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29344739A>G|||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||11/20|NM_001378566.1:c.1438-2356T>C|||||||rs174767||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29344739A>G|||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||11/20|NM_145730.3:c.1438-2356T>C|||||||rs174767||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29344739A>G|||1||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|10|29|11|29;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000415756,ENST00000421126,ENST00000432560,ENST00000472057,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=104952;gnomADv4_1_AC_joint_XX=54174;gnomADv4_1_AC_joint_XY=50778;gnomADv4_1_AF_grpmax_joint=0.920999;gnomADv4_1_AF_joint=0.692487;gnomADv4_1_AF_joint_XX=0.698731;gnomADv4_1_AF_joint_XY=0.685948;gnomADv4_1_AN_grpmax_joint=41354;gnomADv4_1_AN_joint=151558;gnomADv4_1_AN_joint_XX=77532;gnomADv4_1_AN_joint_XY=74026;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=37941;gnomADv4_1_nhomalt_joint_XX=19732;gnomADv4_1_nhomalt_joint_XY=18209;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29345538 chr22_29345538_A_AT A AT 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.937;CADDIndel_Rawscore=-0.034664;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||11/20|ENST00000317368.11:c.1438-3156dup|||||||rs34676854||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl|||||1||chr22:g.29345550dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||11/22|ENST00000357586.7:c.1438-3156dup|||||||rs34676854||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl|||||1||chr22:g.29345550dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||11/20|ENST00000405198.6:c.1438-3156dup|||||||rs34676854||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29345550dup|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000415756|protein_coding||||||||||rs34676854|3734|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:554|3||ENSP00000392735||H7C034.60|UPI0000E5A43C|||Ensembl|||||1||chr22:g.29345550dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||11/12|ENST00000421126.5:c.1438-3156dup|||||||rs34676854||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl|||||1||chr22:g.29345550dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||11/20|ENST00000432560.6:c.1438-3156dup|||||||rs34676854||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29345550dup|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000472057|protein_coding_CDS_not_defined||||||||||rs34676854|4701|-1||HGNC|HGNC:554|3||||||||Ensembl|||||1||chr22:g.29345550dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||11/22|NM_001127.4:c.1438-3156dup|||||||rs34676854||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq|||||||chr22:g.29345550dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||11/20|NM_001166019.2:c.1438-3156dup|||||||rs34676854||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq|||||||chr22:g.29345550dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||11/21|NM_001378562.1:c.1438-3156dup|||||||rs34676854||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq|||||||chr22:g.29345550dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||11/21|NM_001378563.1:c.1438-3156dup|||||||rs34676854||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq|||||||chr22:g.29345550dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||10/20|NM_001378564.1:c.1267-3156dup|||||||rs34676854||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq|||||||chr22:g.29345550dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||10/20|NM_001378565.1:c.1267-3156dup|||||||rs34676854||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq|||||||chr22:g.29345550dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||11/20|NM_001378566.1:c.1438-3156dup|||||||rs34676854||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq|||||||chr22:g.29345550dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||11/20|NM_145730.3:c.1438-3156dup|||||||rs34676854||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq|||||||chr22:g.29345550dup|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=AT|AP1B1|0.00|0.00|0.00|0.00|31|-21|34|31;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000415756,ENST00000421126,ENST00000432560,ENST00000472057,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44931;gnomADv4_1_AC_joint_XX=22758;gnomADv4_1_AC_joint_XY=22173;gnomADv4_1_AF_grpmax_joint=0.490556;gnomADv4_1_AF_joint=0.338621;gnomADv4_1_AF_joint_XX=0.333617;gnomADv4_1_AF_joint_XY=0.343917;gnomADv4_1_AN_grpmax_joint=13660;gnomADv4_1_AN_joint=132688;gnomADv4_1_AN_joint_XX=68216;gnomADv4_1_AN_joint_XY=64472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=8277;gnomADv4_1_nhomalt_joint_XX=4152;gnomADv4_1_nhomalt_joint_XY=4125;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29347493 chr22_29347493_T_C T C 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=14.36;CADD_Rawscore=1.5296;CSQ=C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||11/20|ENST00000317368.11:c.1437+1725A>G|||||||rs2283849||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22:g.29347493T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||11/22|ENST00000357586.7:c.1437+1725A>G|||||||rs2283849||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22:g.29347493T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||11/20|ENST00000405198.6:c.1437+1725A>G|||||||rs2283849||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29347493T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000415756|protein_coding||||||||||rs2283849|1780|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:554|3||ENSP00000392735||H7C034.60|UPI0000E5A43C|||Ensembl||T|T||1||chr22:g.29347493T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||11/12|ENST00000421126.5:c.1437+1725A>G|||||||rs2283849||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||T|T||1||chr22:g.29347493T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||11/20|ENST00000432560.6:c.1437+1725A>G|||||||rs2283849||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29347493T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||11/22|NM_001127.4:c.1437+1725A>G|||||||rs2283849||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||T|T||||chr22:g.29347493T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||11/20|NM_001166019.2:c.1437+1725A>G|||||||rs2283849||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||T|T||||chr22:g.29347493T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||11/21|NM_001378562.1:c.1437+1725A>G|||||||rs2283849||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||T|T||||chr22:g.29347493T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||11/21|NM_001378563.1:c.1437+1725A>G|||||||rs2283849||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||T|T||||chr22:g.29347493T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||10/20|NM_001378564.1:c.1266+1725A>G|||||||rs2283849||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||T|T||||chr22:g.29347493T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||10/20|NM_001378565.1:c.1266+1725A>G|||||||rs2283849||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||T|T||||chr22:g.29347493T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||11/20|NM_001378566.1:c.1437+1725A>G|||||||rs2283849||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||T|T||||chr22:g.29347493T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||11/20|NM_145730.3:c.1437+1725A>G|||||||rs2283849||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||T|T||||chr22:g.29347493T>C|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|5|-30|5|44;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000415756,ENST00000421126,ENST00000432560,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52648;gnomADv4_1_AC_joint_XX=26547;gnomADv4_1_AC_joint_XY=26101;gnomADv4_1_AF_grpmax_joint=0.481855;gnomADv4_1_AF_joint=0.346359;gnomADv4_1_AF_joint_XX=0.341555;gnomADv4_1_AF_joint_XY=0.351387;gnomADv4_1_AN_grpmax_joint=15266;gnomADv4_1_AN_joint=152004;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=9823;gnomADv4_1_nhomalt_joint_XX=4878;gnomADv4_1_nhomalt_joint_XY=4945;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29347790 chr22_29347790_C_T C T 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=3.996;CADD_Rawscore=0.364887;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||11/20|ENST00000317368.11:c.1437+1428G>A|||||||rs715589||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29347790C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||11/22|ENST00000357586.7:c.1437+1428G>A|||||||rs715589||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29347790C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||11/20|ENST00000405198.6:c.1437+1428G>A|||||||rs715589||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29347790C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000415756|protein_coding||||||||||rs715589|1483|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:554|3||ENSP00000392735||H7C034.60|UPI0000E5A43C|||Ensembl||C|C||1||chr22:g.29347790C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||11/12|ENST00000421126.5:c.1437+1428G>A|||||||rs715589||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||C|C||1||chr22:g.29347790C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||11/20|ENST00000432560.6:c.1437+1428G>A|||||||rs715589||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29347790C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||11/22|NM_001127.4:c.1437+1428G>A|||||||rs715589||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29347790C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||11/20|NM_001166019.2:c.1437+1428G>A|||||||rs715589||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29347790C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||11/21|NM_001378562.1:c.1437+1428G>A|||||||rs715589||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29347790C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||11/21|NM_001378563.1:c.1437+1428G>A|||||||rs715589||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29347790C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||10/20|NM_001378564.1:c.1266+1428G>A|||||||rs715589||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29347790C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||10/20|NM_001378565.1:c.1266+1428G>A|||||||rs715589||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29347790C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||11/20|NM_001378566.1:c.1437+1428G>A|||||||rs715589||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29347790C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||11/20|NM_145730.3:c.1437+1428G>A|||||||rs715589||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29347790C>T|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.00|0.00|-24|38|38|-8;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000415756,ENST00000421126,ENST00000432560,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28688;gnomADv4_1_AC_joint_XX=14208;gnomADv4_1_AC_joint_XY=14480;gnomADv4_1_AF_grpmax_joint=0.362563;gnomADv4_1_AF_joint=0.188588;gnomADv4_1_AF_joint_XX=0.18273;gnomADv4_1_AF_joint_XY=0.194713;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2943;gnomADv4_1_nhomalt_joint_XX=1408;gnomADv4_1_nhomalt_joint_XY=1535;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29350264 chr22_29350264_T_C T C 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=4.115;CADD_Rawscore=0.375421;CSQ=C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||9/20|ENST00000317368.11:c.1156-114A>G|||||||rs737883||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22:g.29350264T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||9/22|ENST00000357586.7:c.1156-114A>G|||||||rs737883||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22:g.29350264T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||9/20|ENST00000405198.6:c.1156-114A>G|||||||rs737883||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29350264T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000415756|protein_coding||2/3|ENST00000415756.1:c.293-114A>G|||||||rs737883||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:554|3||ENSP00000392735||H7C034.60|UPI0000E5A43C|||Ensembl||T|T||1||chr22:g.29350264T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||9/12|ENST00000421126.5:c.1156-114A>G|||||||rs737883||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||T|T||1||chr22:g.29350264T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||9/20|ENST00000432560.6:c.1156-114A>G|||||||rs737883||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29350264T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||9/22|NM_001127.4:c.1156-114A>G|||||||rs737883||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||T|T||||chr22:g.29350264T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||9/20|NM_001166019.2:c.1156-114A>G|||||||rs737883||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||T|T||||chr22:g.29350264T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||9/21|NM_001378562.1:c.1156-114A>G|||||||rs737883||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||T|T||||chr22:g.29350264T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||9/21|NM_001378563.1:c.1156-114A>G|||||||rs737883||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||T|T||||chr22:g.29350264T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||8/20|NM_001378564.1:c.985-114A>G|||||||rs737883||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||T|T||||chr22:g.29350264T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||8/20|NM_001378565.1:c.985-114A>G|||||||rs737883||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||T|T||||chr22:g.29350264T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||9/20|NM_001378566.1:c.1156-114A>G|||||||rs737883||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||T|T||||chr22:g.29350264T>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||9/20|NM_145730.3:c.1156-114A>G|||||||rs737883||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||T|T||||chr22:g.29350264T>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29350264T>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=AP1B1:162;ClinVar_Variation_ID=1249596;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.01|0.00|-31|-9|1|-19;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000415756,ENST00000421126,ENST00000432560,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=275183;gnomADv4_1_AC_joint_XX=131848;gnomADv4_1_AC_joint_XY=143335;gnomADv4_1_AF_grpmax_joint=0.660304;gnomADv4_1_AF_joint=0.380251;gnomADv4_1_AF_joint_XX=0.379043;gnomADv4_1_AF_joint_XY=0.381368;gnomADv4_1_AN_grpmax_joint=36830;gnomADv4_1_AN_joint=723688;gnomADv4_1_AN_joint_XX=347844;gnomADv4_1_AN_joint_XY=375844;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=54837;gnomADv4_1_nhomalt_joint_XX=26092;gnomADv4_1_nhomalt_joint_XY=28745;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29352666 chr22_29352666_T_C T C 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.192;CADD_Rawscore=-0.437609;CSQ=C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||7/20|ENST00000317368.11:c.939-841A>G|||||||rs4823032||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22:g.29352666T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||7/22|ENST00000357586.7:c.939-841A>G|||||||rs4823032||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22:g.29352666T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||7/20|ENST00000405198.6:c.939-841A>G|||||||rs4823032||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29352666T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000415756|protein_coding||||||||||rs4823032|919|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:554|3||ENSP00000392735||H7C034.60|UPI0000E5A43C|||Ensembl||T|T||1||chr22:g.29352666T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||7/12|ENST00000421126.5:c.939-841A>G|||||||rs4823032||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||T|T||1||chr22:g.29352666T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||7/20|ENST00000432560.6:c.939-841A>G|||||||rs4823032||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29352666T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||7/22|NM_001127.4:c.939-841A>G|||||||rs4823032||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||T|T||||chr22:g.29352666T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||7/20|NM_001166019.2:c.939-841A>G|||||||rs4823032||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||T|T||||chr22:g.29352666T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||7/21|NM_001378562.1:c.939-841A>G|||||||rs4823032||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||T|T||||chr22:g.29352666T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||7/21|NM_001378563.1:c.939-841A>G|||||||rs4823032||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||T|T||||chr22:g.29352666T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||6/20|NM_001378564.1:c.768-841A>G|||||||rs4823032||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||T|T||||chr22:g.29352666T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||6/20|NM_001378565.1:c.768-841A>G|||||||rs4823032||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||T|T||||chr22:g.29352666T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||7/20|NM_001378566.1:c.939-841A>G|||||||rs4823032||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||T|T||||chr22:g.29352666T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||7/20|NM_145730.3:c.939-841A>G|||||||rs4823032||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||T|T||||chr22:g.29352666T>C|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|26|2|1|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000415756,ENST00000421126,ENST00000432560,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57136;gnomADv4_1_AC_joint_XX=28743;gnomADv4_1_AC_joint_XY=28393;gnomADv4_1_AF_grpmax_joint=0.673584;gnomADv4_1_AF_joint=0.375712;gnomADv4_1_AF_joint_XX=0.369713;gnomADv4_1_AF_joint_XY=0.381986;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11658;gnomADv4_1_nhomalt_joint_XX=5784;gnomADv4_1_nhomalt_joint_XY=5874;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29354197 chr22_29354197_T_C T C 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.367;CADD_Rawscore=0.063758;CSQ=C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||7/20|ENST00000317368.11:c.938+453A>G|||||||rs3788412||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22:g.29354197T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||7/22|ENST00000357586.7:c.938+453A>G|||||||rs3788412||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22:g.29354197T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||7/20|ENST00000405198.6:c.938+453A>G|||||||rs3788412||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29354197T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000415756|protein_coding||||||||||rs3788412|2450|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:554|3||ENSP00000392735||H7C034.60|UPI0000E5A43C|||Ensembl||T|T||1||chr22:g.29354197T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||7/12|ENST00000421126.5:c.938+453A>G|||||||rs3788412||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||T|T||1||chr22:g.29354197T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||7/20|ENST00000432560.6:c.938+453A>G|||||||rs3788412||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29354197T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||7/22|NM_001127.4:c.938+453A>G|||||||rs3788412||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||T|T||||chr22:g.29354197T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||7/20|NM_001166019.2:c.938+453A>G|||||||rs3788412||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||T|T||||chr22:g.29354197T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||7/21|NM_001378562.1:c.938+453A>G|||||||rs3788412||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||T|T||||chr22:g.29354197T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||7/21|NM_001378563.1:c.938+453A>G|||||||rs3788412||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||T|T||||chr22:g.29354197T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||6/20|NM_001378564.1:c.767+453A>G|||||||rs3788412||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||T|T||||chr22:g.29354197T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||6/20|NM_001378565.1:c.767+453A>G|||||||rs3788412||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||T|T||||chr22:g.29354197T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||7/20|NM_001378566.1:c.938+453A>G|||||||rs3788412||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||T|T||||chr22:g.29354197T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||7/20|NM_145730.3:c.938+453A>G|||||||rs3788412||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||T|T||||chr22:g.29354197T>C|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|-19|-2|-47|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000415756,ENST00000421126,ENST00000432560,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52845;gnomADv4_1_AC_joint_XX=26564;gnomADv4_1_AC_joint_XY=26281;gnomADv4_1_AF_grpmax_joint=0.664854;gnomADv4_1_AF_joint=0.347646;gnomADv4_1_AF_joint_XX=0.341721;gnomADv4_1_AF_joint_XY=0.353848;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9992;gnomADv4_1_nhomalt_joint_XX=4948;gnomADv4_1_nhomalt_joint_XY=5044;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29355041 chr22_29355041_G_C G C 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.595;CADD_Rawscore=0.104325;CSQ=C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||6/20|ENST00000317368.11:c.717-170C>G|||||||rs6006103||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29355041G>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||6/22|ENST00000357586.7:c.717-170C>G|||||||rs6006103||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29355041G>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||6/20|ENST00000405198.6:c.717-170C>G|||||||rs6006103||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29355041G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000415756|protein_coding||||||||||rs6006103|3294|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:554|3||ENSP00000392735||H7C034.60|UPI0000E5A43C|||Ensembl||G|G||1||chr22:g.29355041G>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||6/12|ENST00000421126.5:c.717-170C>G|||||||rs6006103||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||G|G||1||chr22:g.29355041G>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||6/20|ENST00000432560.6:c.717-170C>G|||||||rs6006103||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29355041G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||||||||||rs6006103|4632|-1||HGNC|HGNC:554|2||||||||Ensembl||G|G||1||chr22:g.29355041G>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||6/22|NM_001127.4:c.717-170C>G|||||||rs6006103||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29355041G>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||6/20|NM_001166019.2:c.717-170C>G|||||||rs6006103||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29355041G>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||6/21|NM_001378562.1:c.717-170C>G|||||||rs6006103||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29355041G>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||6/21|NM_001378563.1:c.717-170C>G|||||||rs6006103||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29355041G>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||5/20|NM_001378564.1:c.546-170C>G|||||||rs6006103||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29355041G>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||5/20|NM_001378565.1:c.546-170C>G|||||||rs6006103||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29355041G>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||6/20|NM_001378566.1:c.717-170C>G|||||||rs6006103||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29355041G>C|benign||1||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||6/20|NM_145730.3:c.717-170C>G|||||||rs6006103||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29355041G>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29355041G>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=AP1B1:162;ClinVar_Variation_ID=1258451;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|1|27|32|-50;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000415756,ENST00000421126,ENST00000432560,ENST00000473606,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46194;gnomADv4_1_AC_joint_XX=23068;gnomADv4_1_AC_joint_XY=23126;gnomADv4_1_AF_grpmax_joint=0.664011;gnomADv4_1_AF_joint=0.304112;gnomADv4_1_AF_joint_XX=0.297054;gnomADv4_1_AF_joint_XY=0.311495;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=151898;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7551;gnomADv4_1_nhomalt_joint_XX=3669;gnomADv4_1_nhomalt_joint_XY=3882;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29356191 chr22_29356191_C_G C G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.126;CADD_Rawscore=0.013121;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||6/20|ENST00000317368.11:c.716+235G>C|||||||rs4823033||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29356191C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||6/22|ENST00000357586.7:c.716+235G>C|||||||rs4823033||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29356191C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||6/20|ENST00000405198.6:c.716+235G>C|||||||rs4823033||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29356191C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000415756|protein_coding||||||||||rs4823033|4444|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:554|3||ENSP00000392735||H7C034.60|UPI0000E5A43C|||Ensembl||C|C||1||chr22:g.29356191C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||6/12|ENST00000421126.5:c.716+235G>C|||||||rs4823033||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||C|C||1||chr22:g.29356191C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||6/20|ENST00000432560.6:c.716+235G>C|||||||rs4823033||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29356191C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||||||||||rs4823033|3482|-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29356191C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs4823033|4877|1||||||||||||Ensembl||C|C||||chr22:g.29356191C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||6/22|NM_001127.4:c.716+235G>C|||||||rs4823033||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29356191C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||6/20|NM_001166019.2:c.716+235G>C|||||||rs4823033||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29356191C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||6/21|NM_001378562.1:c.716+235G>C|||||||rs4823033||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29356191C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||6/21|NM_001378563.1:c.716+235G>C|||||||rs4823033||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29356191C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||5/20|NM_001378564.1:c.545+235G>C|||||||rs4823033||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29356191C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||5/20|NM_001378565.1:c.545+235G>C|||||||rs4823033||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29356191C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||6/20|NM_001378566.1:c.716+235G>C|||||||rs4823033||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29356191C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||6/20|NM_145730.3:c.716+235G>C|||||||rs4823033||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29356191C>G|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|33|-36|-35|-36;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000415756,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=126985;gnomADv4_1_AC_joint_XX=64580;gnomADv4_1_AC_joint_XY=62405;gnomADv4_1_AF_grpmax_joint=0.96677;gnomADv4_1_AF_joint=0.83387;gnomADv4_1_AF_joint_XX=0.829608;gnomADv4_1_AF_joint_XY=0.838326;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152284;gnomADv4_1_AN_joint_XX=77844;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=53202;gnomADv4_1_nhomalt_joint_XX=26871;gnomADv4_1_nhomalt_joint_XY=26331;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29357062 chr22_29357062_GTTTT_G GTTTT G 50 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.554;CADDIndel_Rawscore=-0.167465;CSQ=-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||5/20|ENST00000317368.11:c.526-450_526-447del|||||||rs59590928||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||TTTT|TTTT||1||chr22:g.29357065_29357068del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||5/22|ENST00000357586.7:c.526-450_526-447del|||||||rs59590928||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||TTTT|TTTT||1||chr22:g.29357065_29357068del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||5/20|ENST00000405198.6:c.526-450_526-447del|||||||rs59590928||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||TTTT|TTTT||1||chr22:g.29357065_29357068del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||5/12|ENST00000421126.5:c.526-450_526-447del|||||||rs59590928||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||TTTT|TTTT||1||chr22:g.29357065_29357068del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||5/20|ENST00000432560.6:c.526-450_526-447del|||||||rs59590928||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||TTTT|TTTT||1||chr22:g.29357065_29357068del|||||||||||||,-|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||||||||||rs59590928|2607|-1||HGNC|HGNC:554|2||||||||Ensembl||TTTT|TTTT||1||chr22:g.29357065_29357068del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs59590928|4002|1||||||||||||Ensembl||TTTT|TTTT||||chr22:g.29357065_29357068del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||5/22|NM_001127.4:c.526-450_526-447del|||||||rs59590928||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||TTTT|TTTT||||chr22:g.29357065_29357068del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||5/20|NM_001166019.2:c.526-450_526-447del|||||||rs59590928||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||TTTT|TTTT||||chr22:g.29357065_29357068del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||5/21|NM_001378562.1:c.526-450_526-447del|||||||rs59590928||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||TTTT|TTTT||||chr22:g.29357065_29357068del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||5/21|NM_001378563.1:c.526-450_526-447del|||||||rs59590928||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||TTTT|TTTT||||chr22:g.29357065_29357068del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||4/20|NM_001378564.1:c.355-450_355-447del|||||||rs59590928||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||TTTT|TTTT||||chr22:g.29357065_29357068del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||4/20|NM_001378565.1:c.355-450_355-447del|||||||rs59590928||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||TTTT|TTTT||||chr22:g.29357065_29357068del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||5/20|NM_001378566.1:c.526-450_526-447del|||||||rs59590928||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||TTTT|TTTT||||chr22:g.29357065_29357068del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||5/20|NM_145730.3:c.526-450_526-447del|||||||rs59590928||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||TTTT|TTTT||||chr22:g.29357065_29357068del|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|35|-21|17|11;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49625;gnomADv4_1_AC_joint_XX=25061;gnomADv4_1_AC_joint_XY=24564;gnomADv4_1_AF_grpmax_joint=0.659181;gnomADv4_1_AF_joint=0.336368;gnomADv4_1_AF_joint_XX=0.331039;gnomADv4_1_AF_joint_XY=0.341984;gnomADv4_1_AN_grpmax_joint=5032;gnomADv4_1_AN_joint=147532;gnomADv4_1_AN_joint_XX=75704;gnomADv4_1_AN_joint_XY=71828;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8766;gnomADv4_1_nhomalt_joint_XX=4360;gnomADv4_1_nhomalt_joint_XY=4406;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29357333 chr22_29357333_G_A G A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.144;CADD_Rawscore=0.017249;CSQ=A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||5/20|ENST00000317368.11:c.526-717C>T|||||||rs5752902||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29357333G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||5/22|ENST00000357586.7:c.526-717C>T|||||||rs5752902||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29357333G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||5/20|ENST00000405198.6:c.526-717C>T|||||||rs5752902||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29357333G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||5/12|ENST00000421126.5:c.526-717C>T|||||||rs5752902||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||G|G||1||chr22:g.29357333G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||5/20|ENST00000432560.6:c.526-717C>T|||||||rs5752902||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29357333G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||||||||||rs5752902|2340|-1||HGNC|HGNC:554|2||||||||Ensembl||G|G||1||chr22:g.29357333G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs5752902|3735|1||||||||||||Ensembl||G|G||||chr22:g.29357333G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||5/22|NM_001127.4:c.526-717C>T|||||||rs5752902||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29357333G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||5/20|NM_001166019.2:c.526-717C>T|||||||rs5752902||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29357333G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||5/21|NM_001378562.1:c.526-717C>T|||||||rs5752902||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29357333G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||5/21|NM_001378563.1:c.526-717C>T|||||||rs5752902||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29357333G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||4/20|NM_001378564.1:c.355-717C>T|||||||rs5752902||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29357333G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||4/20|NM_001378565.1:c.355-717C>T|||||||rs5752902||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29357333G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||5/20|NM_001378566.1:c.526-717C>T|||||||rs5752902||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29357333G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||5/20|NM_145730.3:c.526-717C>T|||||||rs5752902||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29357333G>A|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|AP1B1|0.00|0.00|0.00|0.00|-17|-35|2|-16;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23797;gnomADv4_1_AC_joint_XX=12377;gnomADv4_1_AC_joint_XY=11420;gnomADv4_1_AF_grpmax_joint=0.289433;gnomADv4_1_AF_joint=0.156565;gnomADv4_1_AF_joint_XX=0.159321;gnomADv4_1_AF_joint_XY=0.153685;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2031;gnomADv4_1_nhomalt_joint_XX=1051;gnomADv4_1_nhomalt_joint_XY=980;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29357688 chr22_29357688_G_GT G GT 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=39;CADDIndel_PHREDscore=1.497;CADDIndel_Rawscore=0.087513;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||5/20|ENST00000317368.11:c.525+1037dup|||||||rs695400||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl|||||1||chr22:g.29357705dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||5/22|ENST00000357586.7:c.525+1037dup|||||||rs695400||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl|||||1||chr22:g.29357705dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||5/20|ENST00000405198.6:c.525+1037dup|||||||rs695400||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29357705dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||5/12|ENST00000421126.5:c.525+1037dup|||||||rs695400||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl|||||1||chr22:g.29357705dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||5/20|ENST00000432560.6:c.525+1037dup|||||||rs695400||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29357705dup|||||||||||||,T|downstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||||||||||rs695400|1984|-1||HGNC|HGNC:554|2||||||||Ensembl|||||1||chr22:g.29357705dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs695400|3379|1||||||||||||Ensembl|||||||chr22:g.29357705dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||5/22|NM_001127.4:c.525+1037dup|||||||rs695400||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq|||||||chr22:g.29357705dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||5/20|NM_001166019.2:c.525+1037dup|||||||rs695400||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq|||||||chr22:g.29357705dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||5/21|NM_001378562.1:c.525+1037dup|||||||rs695400||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq|||||||chr22:g.29357705dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||5/21|NM_001378563.1:c.525+1037dup|||||||rs695400||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq|||||||chr22:g.29357705dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||4/20|NM_001378564.1:c.354+1037dup|||||||rs695400||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq|||||||chr22:g.29357705dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||4/20|NM_001378565.1:c.354+1037dup|||||||rs695400||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq|||||||chr22:g.29357705dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||5/20|NM_001378566.1:c.525+1037dup|||||||rs695400||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq|||||||chr22:g.29357705dup|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||5/20|NM_145730.3:c.525+1037dup|||||||rs695400||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq|||||||chr22:g.29357705dup|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=GT|AP1B1|0.00|0.00|0.00|0.00|-3|-35|15|-46;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47205;gnomADv4_1_AC_joint_XX=24771;gnomADv4_1_AC_joint_XY=22434;gnomADv4_1_AF_grpmax_joint=0.662983;gnomADv4_1_AF_joint=0.374566;gnomADv4_1_AF_joint_XX=0.371658;gnomADv4_1_AF_joint_XY=0.377829;gnomADv4_1_AN_grpmax_joint=4344;gnomADv4_1_AN_joint=126026;gnomADv4_1_AN_joint_XX=66650;gnomADv4_1_AN_joint_XY=59376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10554;gnomADv4_1_nhomalt_joint_XX=5470;gnomADv4_1_nhomalt_joint_XY=5084;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29359899 chr22_29359899_T_C T C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=9.56;CADD_Rawscore=0.930367;CSQ=C|synonymous_variant|LOW|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding|4/21||ENST00000317368.11%3Ac.204A>G|ENSP00000319361.7%3Ap.Leu68%3D|391|204|68|L|ctA/ctG|rs2072051||-1||HGNC|HGNC%3A554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22%3Ag.29359899T>C|benign||1||||||||||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding|4/23||ENST00000357586.7%3Ac.204A>G|ENSP00000350199.2%3Ap.Leu68%3D|378|204|68|L|ctA/ctG|rs2072051||-1||HGNC|HGNC%3A554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22%3Ag.29359899T>C|benign||1||||||||||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding|4/21||ENST00000405198.6%3Ac.204A>G|ENSP00000384194.2%3Ap.Leu68%3D|391|204|68|L|ctA/ctG|rs2072051||-1||HGNC|HGNC%3A554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22%3Ag.29359899T>C|benign||1||||||||||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding|4/13||ENST00000421126.5%3Ac.204A>G|ENSP00000400022.1%3Ap.Leu68%3D|378|204|68|L|ctA/ctG|rs2072051||-1|cds_end_NF|HGNC|HGNC%3A554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||T|T||1||chr22%3Ag.29359899T>C|benign||1||||||||||,C|synonymous_variant|LOW|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding|4/21||ENST00000432560.6%3Ac.204A>G|ENSP00000400065.2%3Ap.Leu68%3D|391|204|68|L|ctA/ctG|rs2072051||-1||HGNC|HGNC%3A554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22%3Ag.29359899T>C|benign||1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron|4/4||ENST00000473606.1:n.334A>G||334|||||rs2072051||-1||HGNC|HGNC:554|2||||||||Ensembl||T|T||1||chr22:g.29359899T>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs2072051|1169|1||||||||||||Ensembl||T|T||||chr22:g.29359899T>C|benign||1||||||||||,C|synonymous_variant|LOW|AP1B1|162|Transcript|NM_001127.4|protein_coding|4/23||NM_001127.4%3Ac.204A>G|NP_001118.3%3Ap.Leu68%3D|378|204|68|L|ctA/ctG|rs2072051||-1||EntrezGene|HGNC%3A554|||NP_001118.3||||||RefSeq||T|T||||chr22%3Ag.29359899T>C|benign||1||||||||||,C|synonymous_variant|LOW|AP1B1|162|Transcript|NM_001166019.2|protein_coding|4/21||NM_001166019.2%3Ac.204A>G|NP_001159491.1%3Ap.Leu68%3D|378|204|68|L|ctA/ctG|rs2072051||-1||EntrezGene|HGNC%3A554|||NP_001159491.1||||||RefSeq||T|T||||chr22%3Ag.29359899T>C|benign||1||||||||||,C|synonymous_variant|LOW|AP1B1|162|Transcript|NM_001378562.1|protein_coding|4/22||NM_001378562.1%3Ac.204A>G|NP_001365491.1%3Ap.Leu68%3D|378|204|68|L|ctA/ctG|rs2072051||-1||EntrezGene|HGNC%3A554|||NP_001365491.1||||||RefSeq||T|T||||chr22%3Ag.29359899T>C|benign||1||||||||||,C|synonymous_variant|LOW|AP1B1|162|Transcript|NM_001378563.1|protein_coding|4/22||NM_001378563.1%3Ac.204A>G|NP_001365492.1%3Ap.Leu68%3D|378|204|68|L|ctA/ctG|rs2072051||-1||EntrezGene|HGNC%3A554|||NP_001365492.1||||||RefSeq||T|T||||chr22%3Ag.29359899T>C|benign||1||||||||||,C|synonymous_variant|LOW|AP1B1|162|Transcript|NM_001378564.1|protein_coding|3/21||NM_001378564.1%3Ac.33A>G|NP_001365493.1%3Ap.Leu11%3D|272|33|11|L|ctA/ctG|rs2072051||-1||EntrezGene|HGNC%3A554|||NP_001365493.1||||||RefSeq||T|T||||chr22%3Ag.29359899T>C|benign||1||||||||||,C|synonymous_variant|LOW|AP1B1|162|Transcript|NM_001378565.1|protein_coding|3/21||NM_001378565.1%3Ac.33A>G|NP_001365494.1%3Ap.Leu11%3D|272|33|11|L|ctA/ctG|rs2072051||-1||EntrezGene|HGNC%3A554|||NP_001365494.1||||||RefSeq||T|T||||chr22%3Ag.29359899T>C|benign||1||||||||||,C|synonymous_variant|LOW|AP1B1|162|Transcript|NM_001378566.1|protein_coding|4/21||NM_001378566.1%3Ac.204A>G|NP_001365495.1%3Ap.Leu68%3D|378|204|68|L|ctA/ctG|rs2072051||-1||EntrezGene|HGNC%3A554|||NP_001365495.1||||||RefSeq||T|T||||chr22%3Ag.29359899T>C|benign||1||||||||||,C|synonymous_variant|LOW|AP1B1|162|Transcript|NM_145730.3|protein_coding|4/21||NM_145730.3%3Ac.204A>G|NP_663782.2%3Ap.Leu68%3D|378|204|68|L|ctA/ctG|rs2072051||-1||EntrezGene|HGNC%3A554|||NP_663782.2||||||RefSeq||T|T||||chr22%3Ag.29359899T>C|benign||1||||||||||;ClinVar_CLNDN=Autosomal_recessive_keratitis-ichthyosis-deafness_syndrome|not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29359899T>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=AP1B1:162;ClinVar_Variation_ID=1192402;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.01|0.00|0.00|0.00|26|-2|0|4;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=926626;gnomADv4_1_AC_joint_XX=468461;gnomADv4_1_AC_joint_XY=458165;gnomADv4_1_AF_grpmax_joint=0.839839;gnomADv4_1_AF_joint=0.574329;gnomADv4_1_AF_joint_XX=0.576846;gnomADv4_1_AF_joint_XY=0.571779;gnomADv4_1_AN_grpmax_joint=75012;gnomADv4_1_AN_joint=1613406;gnomADv4_1_AN_joint_XX=812108;gnomADv4_1_AN_joint_XY=801298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=270917;gnomADv4_1_nhomalt_joint_XX=137498;gnomADv4_1_nhomalt_joint_XY=133419;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29361253 chr22_29361253_C_T C T 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=0.5;AF_XX=1.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=5.019;CADD_Rawscore=0.457581;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||3/20|ENST00000317368.11:c.144-1294G>A|||||||rs58595531||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29361253C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||3/22|ENST00000357586.7:c.144-1294G>A|||||||rs58595531||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29361253C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||3/20|ENST00000405198.6:c.144-1294G>A|||||||rs58595531||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29361253C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||3/12|ENST00000421126.5:c.144-1294G>A|||||||rs58595531||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||C|C||1||chr22:g.29361253C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||3/20|ENST00000432560.6:c.144-1294G>A|||||||rs58595531||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29361253C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||3/3|ENST00000473606.1:n.274-1294G>A|||||||rs58595531||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29361253C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+56C>T|||||||rs58595531||1||||||||||||Ensembl||C|C||||chr22:g.29361253C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||3/22|NM_001127.4:c.144-1294G>A|||||||rs58595531||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29361253C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||3/20|NM_001166019.2:c.144-1294G>A|||||||rs58595531||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29361253C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||3/21|NM_001378562.1:c.144-1294G>A|||||||rs58595531||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29361253C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||3/21|NM_001378563.1:c.144-1294G>A|||||||rs58595531||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29361253C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||2/20|NM_001378564.1:c.-28-1294G>A|||||||rs58595531||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29361253C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||2/20|NM_001378565.1:c.-28-1294G>A|||||||rs58595531||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29361253C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||3/20|NM_001378566.1:c.144-1294G>A|||||||rs58595531||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29361253C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||3/20|NM_145730.3:c.144-1294G>A|||||||rs58595531||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29361253C>T|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.00|0.00|7|25|-2|5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13336;gnomADv4_1_AC_joint_XX=6167;gnomADv4_1_AC_joint_XY=7169;gnomADv4_1_AF_grpmax_joint=0.272822;gnomADv4_1_AF_joint=0.0877946;gnomADv4_1_AF_joint_XX=0.0794021;gnomADv4_1_AF_joint_XY=0.0965756;gnomADv4_1_AN_grpmax_joint=4776;gnomADv4_1_AN_joint=151900;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=800;gnomADv4_1_nhomalt_joint_XX=329;gnomADv4_1_nhomalt_joint_XY=471;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29362246 chr22_29362246_C_T C T 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.315;CADD_Rawscore=0.485727;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||3/20|ENST00000317368.11:c.143+755G>A|||||||rs2881921||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29362246C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||3/22|ENST00000357586.7:c.143+755G>A|||||||rs2881921||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29362246C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||3/20|ENST00000405198.6:c.143+755G>A|||||||rs2881921||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29362246C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||3/12|ENST00000421126.5:c.143+755G>A|||||||rs2881921||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||C|C||1||chr22:g.29362246C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||3/20|ENST00000432560.6:c.143+755G>A|||||||rs2881921||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29362246C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||3/3|ENST00000473606.1:n.273+755G>A|||||||rs2881921||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29362246C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+1049C>T|||||||rs2881921||1||||||||||||Ensembl||C|C||||chr22:g.29362246C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||3/22|NM_001127.4:c.143+755G>A|||||||rs2881921||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29362246C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||3/20|NM_001166019.2:c.143+755G>A|||||||rs2881921||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29362246C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||3/21|NM_001378562.1:c.143+755G>A|||||||rs2881921||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29362246C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||3/21|NM_001378563.1:c.143+755G>A|||||||rs2881921||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29362246C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||2/20|NM_001378564.1:c.-28-2287G>A|||||||rs2881921||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29362246C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||2/20|NM_001378565.1:c.-28-2287G>A|||||||rs2881921||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29362246C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||3/20|NM_001378566.1:c.143+755G>A|||||||rs2881921||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29362246C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||3/20|NM_145730.3:c.143+755G>A|||||||rs2881921||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29362246C>T|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.00|0.00|-30|50|27|-21;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53780;gnomADv4_1_AC_joint_XX=27029;gnomADv4_1_AC_joint_XY=26751;gnomADv4_1_AF_grpmax_joint=0.665764;gnomADv4_1_AF_joint=0.353541;gnomADv4_1_AF_joint_XX=0.347631;gnomADv4_1_AF_joint_XY=0.359721;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10420;gnomADv4_1_nhomalt_joint_XX=5153;gnomADv4_1_nhomalt_joint_XY=5267;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29362402 chr22_29362402_A_T A T 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.936;CADD_Rawscore=-0.034912;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||3/20|ENST00000317368.11:c.143+599T>A|||||||rs3963293||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29362402A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||3/22|ENST00000357586.7:c.143+599T>A|||||||rs3963293||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29362402A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||3/20|ENST00000405198.6:c.143+599T>A|||||||rs3963293||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29362402A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||3/12|ENST00000421126.5:c.143+599T>A|||||||rs3963293||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||A|A||1||chr22:g.29362402A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||3/20|ENST00000432560.6:c.143+599T>A|||||||rs3963293||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29362402A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||3/3|ENST00000473606.1:n.273+599T>A|||||||rs3963293||-1||HGNC|HGNC:554|2||||||||Ensembl||A|A||1||chr22:g.29362402A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+1205A>T|||||||rs3963293||1||||||||||||Ensembl||A|A||||chr22:g.29362402A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||3/22|NM_001127.4:c.143+599T>A|||||||rs3963293||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29362402A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||3/20|NM_001166019.2:c.143+599T>A|||||||rs3963293||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29362402A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||3/21|NM_001378562.1:c.143+599T>A|||||||rs3963293||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29362402A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||3/21|NM_001378563.1:c.143+599T>A|||||||rs3963293||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29362402A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||2/20|NM_001378564.1:c.-28-2443T>A|||||||rs3963293||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29362402A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||2/20|NM_001378565.1:c.-28-2443T>A|||||||rs3963293||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29362402A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||3/20|NM_001378566.1:c.143+599T>A|||||||rs3963293||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29362402A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||3/20|NM_145730.3:c.143+599T>A|||||||rs3963293||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29362402A>T|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.00|0.00|-2|-5|-14|26;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53478;gnomADv4_1_AC_joint_XX=26924;gnomADv4_1_AC_joint_XY=26554;gnomADv4_1_AF_grpmax_joint=0.666406;gnomADv4_1_AF_joint=0.353962;gnomADv4_1_AF_joint_XX=0.348134;gnomADv4_1_AF_joint_XY=0.360074;gnomADv4_1_AN_grpmax_joint=5114;gnomADv4_1_AN_joint=151084;gnomADv4_1_AN_joint_XX=77338;gnomADv4_1_AN_joint_XY=73746;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10338;gnomADv4_1_nhomalt_joint_XX=5125;gnomADv4_1_nhomalt_joint_XY=5213;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29362499 chr22_29362499_A_G A G 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.944;CADD_Rawscore=0.360288;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||3/20|ENST00000317368.11:c.143+502T>C|||||||rs6006104||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29362499A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||3/22|ENST00000357586.7:c.143+502T>C|||||||rs6006104||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29362499A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||3/20|ENST00000405198.6:c.143+502T>C|||||||rs6006104||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29362499A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||3/12|ENST00000421126.5:c.143+502T>C|||||||rs6006104||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||A|A||1||chr22:g.29362499A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||3/20|ENST00000432560.6:c.143+502T>C|||||||rs6006104||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29362499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||3/3|ENST00000473606.1:n.273+502T>C|||||||rs6006104||-1||HGNC|HGNC:554|2||||||||Ensembl||A|A||1||chr22:g.29362499A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+1302A>G|||||||rs6006104||1||||||||||||Ensembl||A|A||||chr22:g.29362499A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||3/22|NM_001127.4:c.143+502T>C|||||||rs6006104||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29362499A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||3/20|NM_001166019.2:c.143+502T>C|||||||rs6006104||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29362499A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||3/21|NM_001378562.1:c.143+502T>C|||||||rs6006104||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29362499A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||3/21|NM_001378563.1:c.143+502T>C|||||||rs6006104||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29362499A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||2/20|NM_001378564.1:c.-28-2540T>C|||||||rs6006104||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29362499A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||2/20|NM_001378565.1:c.-28-2540T>C|||||||rs6006104||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29362499A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||3/20|NM_001378566.1:c.143+502T>C|||||||rs6006104||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29362499A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||3/20|NM_145730.3:c.143+502T>C|||||||rs6006104||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29362499A>G|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|13|15|24|47;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46226;gnomADv4_1_AC_joint_XX=23079;gnomADv4_1_AC_joint_XY=23147;gnomADv4_1_AF_grpmax_joint=0.664979;gnomADv4_1_AF_joint=0.304315;gnomADv4_1_AF_joint_XX=0.297211;gnomADv4_1_AF_joint_XY=0.311744;gnomADv4_1_AN_grpmax_joint=5134;gnomADv4_1_AN_joint=151902;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7560;gnomADv4_1_nhomalt_joint_XX=3667;gnomADv4_1_nhomalt_joint_XY=3893;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29362591 chr22_29362591_C_T C T 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.692;CADD_Rawscore=-0.111641;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||3/20|ENST00000317368.11:c.143+410G>A|||||||rs5997467||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29362591C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||3/22|ENST00000357586.7:c.143+410G>A|||||||rs5997467||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29362591C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||3/20|ENST00000405198.6:c.143+410G>A|||||||rs5997467||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29362591C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||3/12|ENST00000421126.5:c.143+410G>A|||||||rs5997467||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||C|C||1||chr22:g.29362591C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||3/20|ENST00000432560.6:c.143+410G>A|||||||rs5997467||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29362591C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||3/3|ENST00000473606.1:n.273+410G>A|||||||rs5997467||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29362591C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+1394C>T|||||||rs5997467||1||||||||||||Ensembl||C|C||||chr22:g.29362591C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||3/22|NM_001127.4:c.143+410G>A|||||||rs5997467||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29362591C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||3/20|NM_001166019.2:c.143+410G>A|||||||rs5997467||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29362591C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||3/21|NM_001378562.1:c.143+410G>A|||||||rs5997467||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29362591C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||3/21|NM_001378563.1:c.143+410G>A|||||||rs5997467||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29362591C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||2/20|NM_001378564.1:c.-28-2632G>A|||||||rs5997467||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29362591C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||2/20|NM_001378565.1:c.-28-2632G>A|||||||rs5997467||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29362591C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||3/20|NM_001378566.1:c.143+410G>A|||||||rs5997467||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29362591C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||3/20|NM_145730.3:c.143+410G>A|||||||rs5997467||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29362591C>T|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.00|0.00|2|19|3|-13;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53694;gnomADv4_1_AC_joint_XX=26997;gnomADv4_1_AC_joint_XY=26697;gnomADv4_1_AF_grpmax_joint=0.664014;gnomADv4_1_AF_joint=0.353171;gnomADv4_1_AF_joint_XX=0.347425;gnomADv4_1_AF_joint_XY=0.359178;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152034;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10383;gnomADv4_1_nhomalt_joint_XX=5142;gnomADv4_1_nhomalt_joint_XY=5241;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29363199 chr22_29363199_C_G C G 45 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.503;CADD_Rawscore=-0.191595;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||2/20|ENST00000317368.11:c.38-93G>C|||||||rs6006105||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29363199C>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||2/22|ENST00000357586.7:c.38-93G>C|||||||rs6006105||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29363199C>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||2/20|ENST00000405198.6:c.38-93G>C|||||||rs6006105||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29363199C>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||2/12|ENST00000421126.5:c.38-93G>C|||||||rs6006105||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||C|C||1||chr22:g.29363199C>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||2/20|ENST00000432560.6:c.38-93G>C|||||||rs6006105||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29363199C>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||2/3|ENST00000473606.1:n.168-93G>C|||||||rs6006105||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29363199C>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+2002C>G|||||||rs6006105||1||||||||||||Ensembl||C|C||||chr22:g.29363199C>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||2/22|NM_001127.4:c.38-93G>C|||||||rs6006105||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29363199C>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||2/20|NM_001166019.2:c.38-93G>C|||||||rs6006105||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29363199C>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||2/21|NM_001378562.1:c.38-93G>C|||||||rs6006105||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29363199C>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||2/21|NM_001378563.1:c.38-93G>C|||||||rs6006105||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29363199C>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||2/20|NM_001378564.1:c.-28-3240G>C|||||||rs6006105||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29363199C>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||2/20|NM_001378565.1:c.-28-3240G>C|||||||rs6006105||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29363199C>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||2/20|NM_001378566.1:c.38-93G>C|||||||rs6006105||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29363199C>G|benign||1||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||2/20|NM_145730.3:c.38-93G>C|||||||rs6006105||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29363199C>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29363199C>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=AP1B1:162;ClinVar_Variation_ID=1240572;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|-26|0|-12|1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=234758;gnomADv4_1_AC_joint_XX=111602;gnomADv4_1_AC_joint_XY=123156;gnomADv4_1_AF_grpmax_joint=0.669253;gnomADv4_1_AF_joint=0.334933;gnomADv4_1_AF_joint_XX=0.335397;gnomADv4_1_AF_joint_XY=0.334514;gnomADv4_1_AN_grpmax_joint=39562;gnomADv4_1_AN_joint=700910;gnomADv4_1_AN_joint_XX=332746;gnomADv4_1_AN_joint_XY=368164;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=42689;gnomADv4_1_nhomalt_joint_XX=20350;gnomADv4_1_nhomalt_joint_XY=22339;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29363455 chr22_29363455_C_G C G 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.907;CADD_Rawscore=0.151384;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||2/20|ENST00000317368.11:c.38-349G>C|||||||rs174769||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29363455C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||2/22|ENST00000357586.7:c.38-349G>C|||||||rs174769||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29363455C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||2/20|ENST00000405198.6:c.38-349G>C|||||||rs174769||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29363455C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||2/12|ENST00000421126.5:c.38-349G>C|||||||rs174769||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||C|C||1||chr22:g.29363455C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||2/20|ENST00000432560.6:c.38-349G>C|||||||rs174769||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29363455C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||2/3|ENST00000473606.1:n.168-349G>C|||||||rs174769||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29363455C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+2258C>G|||||||rs174769||1||||||||||||Ensembl||C|C||||chr22:g.29363455C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||2/22|NM_001127.4:c.38-349G>C|||||||rs174769||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29363455C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||2/20|NM_001166019.2:c.38-349G>C|||||||rs174769||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29363455C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||2/21|NM_001378562.1:c.38-349G>C|||||||rs174769||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29363455C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||2/21|NM_001378563.1:c.38-349G>C|||||||rs174769||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29363455C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||2/20|NM_001378564.1:c.-28-3496G>C|||||||rs174769||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29363455C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||2/20|NM_001378565.1:c.-28-3496G>C|||||||rs174769||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29363455C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||2/20|NM_001378566.1:c.38-349G>C|||||||rs174769||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29363455C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||2/20|NM_145730.3:c.38-349G>C|||||||rs174769||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29363455C>G|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.07|0.00|0.00|0.00|25|-1|19|-1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58765;gnomADv4_1_AC_joint_XX=29955;gnomADv4_1_AC_joint_XY=28810;gnomADv4_1_AF_grpmax_joint=0.528549;gnomADv4_1_AF_joint=0.386449;gnomADv4_1_AF_joint_XX=0.385353;gnomADv4_1_AF_joint_XY=0.387596;gnomADv4_1_AN_grpmax_joint=15272;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=12422;gnomADv4_1_nhomalt_joint_XX=6326;gnomADv4_1_nhomalt_joint_XY=6096;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29364150 chr22_29364150_A_G A G 49 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.145;CADD_Rawscore=-0.51231;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||2/20|ENST00000317368.11:c.38-1044T>C|||||||rs378720||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29364150A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||2/22|ENST00000357586.7:c.38-1044T>C|||||||rs378720||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29364150A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||2/20|ENST00000405198.6:c.38-1044T>C|||||||rs378720||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29364150A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||2/12|ENST00000421126.5:c.38-1044T>C|||||||rs378720||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||A|A||1||chr22:g.29364150A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||2/20|ENST00000432560.6:c.38-1044T>C|||||||rs378720||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29364150A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||2/3|ENST00000473606.1:n.168-1044T>C|||||||rs378720||-1||HGNC|HGNC:554|2||||||||Ensembl||A|A||1||chr22:g.29364150A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+2953A>G|||||||rs378720||1||||||||||||Ensembl||A|A||||chr22:g.29364150A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||2/22|NM_001127.4:c.38-1044T>C|||||||rs378720||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29364150A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||2/20|NM_001166019.2:c.38-1044T>C|||||||rs378720||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29364150A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||2/21|NM_001378562.1:c.38-1044T>C|||||||rs378720||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29364150A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||2/21|NM_001378563.1:c.38-1044T>C|||||||rs378720||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29364150A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||2/20|NM_001378564.1:c.-29+3057T>C|||||||rs378720||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29364150A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||2/20|NM_001378565.1:c.-29+3057T>C|||||||rs378720||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29364150A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||2/20|NM_001378566.1:c.38-1044T>C|||||||rs378720||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29364150A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||2/20|NM_145730.3:c.38-1044T>C|||||||rs378720||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29364150A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FMNK|enhancer||||||||||rs378720|||||||||||||||||||||chr22:g.29364150A>G|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|26|24|25|-3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3,ENSR22_9FMNK;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162,.;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53731;gnomADv4_1_AC_joint_XX=27021;gnomADv4_1_AC_joint_XY=26710;gnomADv4_1_AF_grpmax_joint=0.665248;gnomADv4_1_AF_joint=0.353461;gnomADv4_1_AF_joint_XX=0.347743;gnomADv4_1_AF_joint_XY=0.35944;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10410;gnomADv4_1_nhomalt_joint_XX=5157;gnomADv4_1_nhomalt_joint_XY=5253;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29365243 chr22_29365243_C_T C T 50 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=7.025;CADD_Rawscore=0.660753;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||2/20|ENST00000317368.11:c.37+1964G>A|||||||rs34234634||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29365243C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||2/22|ENST00000357586.7:c.37+1964G>A|||||||rs34234634||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29365243C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||2/20|ENST00000405198.6:c.37+1964G>A|||||||rs34234634||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29365243C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||2/12|ENST00000421126.5:c.37+1964G>A|||||||rs34234634||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||C|C||1||chr22:g.29365243C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||2/20|ENST00000432560.6:c.37+1964G>A|||||||rs34234634||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29365243C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||2/3|ENST00000473606.1:n.167+1964G>A|||||||rs34234634||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29365243C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+4046C>T|||||||rs34234634||1||||||||||||Ensembl||C|C||||chr22:g.29365243C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||2/22|NM_001127.4:c.37+1964G>A|||||||rs34234634||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29365243C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||2/20|NM_001166019.2:c.37+1964G>A|||||||rs34234634||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29365243C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||2/21|NM_001378562.1:c.37+1964G>A|||||||rs34234634||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29365243C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||2/21|NM_001378563.1:c.37+1964G>A|||||||rs34234634||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29365243C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||2/20|NM_001378564.1:c.-29+1964G>A|||||||rs34234634||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29365243C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||2/20|NM_001378565.1:c.-29+1964G>A|||||||rs34234634||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29365243C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||2/20|NM_001378566.1:c.37+1964G>A|||||||rs34234634||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29365243C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||2/20|NM_145730.3:c.37+1964G>A|||||||rs34234634||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29365243C>T|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.00|0.00|-4|-22|-4|11;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53546;gnomADv4_1_AC_joint_XX=26906;gnomADv4_1_AC_joint_XY=26640;gnomADv4_1_AF_grpmax_joint=0.664729;gnomADv4_1_AF_joint=0.35249;gnomADv4_1_AF_joint_XX=0.346566;gnomADv4_1_AF_joint_XY=0.358682;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151908;gnomADv4_1_AN_joint_XX=77636;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10308;gnomADv4_1_nhomalt_joint_XX=5095;gnomADv4_1_nhomalt_joint_XY=5213;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29365589 chr22_29365589_C_T C T 28 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=28;CADD_PHREDscore=0.807;CADD_Rawscore=-0.072904;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||2/20|ENST00000317368.11:c.37+1618G>A|||||||rs418267||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29365589C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||2/22|ENST00000357586.7:c.37+1618G>A|||||||rs418267||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29365589C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||2/20|ENST00000405198.6:c.37+1618G>A|||||||rs418267||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29365589C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||2/12|ENST00000421126.5:c.37+1618G>A|||||||rs418267||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||C|C||1||chr22:g.29365589C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||2/20|ENST00000432560.6:c.37+1618G>A|||||||rs418267||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29365589C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||2/3|ENST00000473606.1:n.167+1618G>A|||||||rs418267||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29365589C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+4392C>T|||||||rs418267||1||||||||||||Ensembl||C|C||||chr22:g.29365589C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||2/22|NM_001127.4:c.37+1618G>A|||||||rs418267||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29365589C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||2/20|NM_001166019.2:c.37+1618G>A|||||||rs418267||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29365589C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||2/21|NM_001378562.1:c.37+1618G>A|||||||rs418267||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29365589C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||2/21|NM_001378563.1:c.37+1618G>A|||||||rs418267||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29365589C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||2/20|NM_001378564.1:c.-29+1618G>A|||||||rs418267||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29365589C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||2/20|NM_001378565.1:c.-29+1618G>A|||||||rs418267||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29365589C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||2/20|NM_001378566.1:c.37+1618G>A|||||||rs418267||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29365589C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||2/20|NM_145730.3:c.37+1618G>A|||||||rs418267||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29365589C>T|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.00|0.00|-2|5|-24|5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22344;gnomADv4_1_AC_joint_XX=10681;gnomADv4_1_AC_joint_XY=11663;gnomADv4_1_AF_grpmax_joint=0.372917;gnomADv4_1_AF_joint=0.146994;gnomADv4_1_AF_joint_XX=0.137465;gnomADv4_1_AF_joint_XY=0.156959;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2060;gnomADv4_1_nhomalt_joint_XX=922;gnomADv4_1_nhomalt_joint_XY=1138;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29365661 chr22_29365661_C_G C G 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.75;AF_XX=.;AF_XY=0.75;AN=4;AN_XX=0;AN_XY=4;AQ=49;CADD_PHREDscore=1.025;CADD_Rawscore=-0.011447;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||2/20|ENST00000317368.11:c.37+1546G>C|||||||rs1807503||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29365661C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||2/22|ENST00000357586.7:c.37+1546G>C|||||||rs1807503||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29365661C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||2/20|ENST00000405198.6:c.37+1546G>C|||||||rs1807503||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29365661C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||2/12|ENST00000421126.5:c.37+1546G>C|||||||rs1807503||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||C|C||1||chr22:g.29365661C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||2/20|ENST00000432560.6:c.37+1546G>C|||||||rs1807503||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29365661C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||2/3|ENST00000473606.1:n.167+1546G>C|||||||rs1807503||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29365661C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+4464C>G|||||||rs1807503||1||||||||||||Ensembl||C|C||||chr22:g.29365661C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||2/22|NM_001127.4:c.37+1546G>C|||||||rs1807503||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29365661C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||2/20|NM_001166019.2:c.37+1546G>C|||||||rs1807503||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29365661C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||2/21|NM_001378562.1:c.37+1546G>C|||||||rs1807503||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29365661C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||2/21|NM_001378563.1:c.37+1546G>C|||||||rs1807503||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29365661C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||2/20|NM_001378564.1:c.-29+1546G>C|||||||rs1807503||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29365661C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||2/20|NM_001378565.1:c.-29+1546G>C|||||||rs1807503||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29365661C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||2/20|NM_001378566.1:c.37+1546G>C|||||||rs1807503||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29365661C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||2/20|NM_145730.3:c.37+1546G>C|||||||rs1807503||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29365661C>G|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|-12|28|-26|28;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50624;gnomADv4_1_AC_joint_XX=25633;gnomADv4_1_AC_joint_XY=24991;gnomADv4_1_AF_grpmax_joint=0.58062;gnomADv4_1_AF_joint=0.337376;gnomADv4_1_AF_joint_XX=0.333555;gnomADv4_1_AF_joint_XY=0.341388;gnomADv4_1_AN_grpmax_joint=5036;gnomADv4_1_AN_joint=150052;gnomADv4_1_AN_joint_XX=76848;gnomADv4_1_AN_joint_XY=73204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8717;gnomADv4_1_nhomalt_joint_XX=4395;gnomADv4_1_nhomalt_joint_XY=4322;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29366251 chr22_29366251_G_A G A 59 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=8.606;CADD_Rawscore=0.833615;CSQ=A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||2/20|ENST00000317368.11:c.37+956C>T|||||||rs6006108||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29366251G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||2/22|ENST00000357586.7:c.37+956C>T|||||||rs6006108||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29366251G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||2/20|ENST00000405198.6:c.37+956C>T|||||||rs6006108||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29366251G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||2/12|ENST00000421126.5:c.37+956C>T|||||||rs6006108||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||G|G||1||chr22:g.29366251G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||2/20|ENST00000432560.6:c.37+956C>T|||||||rs6006108||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29366251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||2/3|ENST00000473606.1:n.167+956C>T|||||||rs6006108||-1||HGNC|HGNC:554|2||||||||Ensembl||G|G||1||chr22:g.29366251G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+5054G>A|||||||rs6006108||1||||||||||||Ensembl||G|G||||chr22:g.29366251G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||2/22|NM_001127.4:c.37+956C>T|||||||rs6006108||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29366251G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||2/20|NM_001166019.2:c.37+956C>T|||||||rs6006108||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29366251G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||2/21|NM_001378562.1:c.37+956C>T|||||||rs6006108||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29366251G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||2/21|NM_001378563.1:c.37+956C>T|||||||rs6006108||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29366251G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||2/20|NM_001378564.1:c.-29+956C>T|||||||rs6006108||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29366251G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||2/20|NM_001378565.1:c.-29+956C>T|||||||rs6006108||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29366251G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||2/20|NM_001378566.1:c.37+956C>T|||||||rs6006108||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29366251G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||2/20|NM_145730.3:c.37+956C>T|||||||rs6006108||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29366251G>A|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|AP1B1|0.00|0.00|0.00|0.00|-24|12|5|-37;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53747;gnomADv4_1_AC_joint_XX=27022;gnomADv4_1_AC_joint_XY=26725;gnomADv4_1_AF_grpmax_joint=0.664929;gnomADv4_1_AF_joint=0.353408;gnomADv4_1_AF_joint_XX=0.347586;gnomADv4_1_AF_joint_XY=0.359497;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10409;gnomADv4_1_nhomalt_joint_XX=5155;gnomADv4_1_nhomalt_joint_XY=5254;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29366380 chr22_29366380_G_A G A 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.179;CADD_Rawscore=-0.456019;CSQ=A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||2/20|ENST00000317368.11:c.37+827C>T|||||||rs2002566||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29366380G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||2/22|ENST00000357586.7:c.37+827C>T|||||||rs2002566||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29366380G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||2/20|ENST00000405198.6:c.37+827C>T|||||||rs2002566||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29366380G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||2/12|ENST00000421126.5:c.37+827C>T|||||||rs2002566||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||G|G||1||chr22:g.29366380G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||2/20|ENST00000432560.6:c.37+827C>T|||||||rs2002566||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29366380G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||2/3|ENST00000473606.1:n.167+827C>T|||||||rs2002566||-1||HGNC|HGNC:554|2||||||||Ensembl||G|G||1||chr22:g.29366380G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+5183G>A|||||||rs2002566||1||||||||||||Ensembl||G|G||||chr22:g.29366380G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||2/22|NM_001127.4:c.37+827C>T|||||||rs2002566||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29366380G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||2/20|NM_001166019.2:c.37+827C>T|||||||rs2002566||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29366380G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||2/21|NM_001378562.1:c.37+827C>T|||||||rs2002566||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29366380G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||2/21|NM_001378563.1:c.37+827C>T|||||||rs2002566||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29366380G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||2/20|NM_001378564.1:c.-29+827C>T|||||||rs2002566||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29366380G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||2/20|NM_001378565.1:c.-29+827C>T|||||||rs2002566||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29366380G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||2/20|NM_001378566.1:c.37+827C>T|||||||rs2002566||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29366380G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||2/20|NM_145730.3:c.37+827C>T|||||||rs2002566||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29366380G>A|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|AP1B1|0.00|0.00|0.00|0.00|-14|21|39|-26;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53698;gnomADv4_1_AC_joint_XX=27015;gnomADv4_1_AC_joint_XY=26683;gnomADv4_1_AF_grpmax_joint=0.664988;gnomADv4_1_AF_joint=0.353258;gnomADv4_1_AF_joint_XX=0.347612;gnomADv4_1_AF_joint_XY=0.359164;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10397;gnomADv4_1_nhomalt_joint_XX=5156;gnomADv4_1_nhomalt_joint_XY=5241;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29366725 chr22_29366725_A_G A G 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.771;CADD_Rawscore=0.131815;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||2/20|ENST00000317368.11:c.37+482T>C|||||||rs6006109||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29366725A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||2/22|ENST00000357586.7:c.37+482T>C|||||||rs6006109||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29366725A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||2/20|ENST00000405198.6:c.37+482T>C|||||||rs6006109||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29366725A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||2/12|ENST00000421126.5:c.37+482T>C|||||||rs6006109||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||A|A||1||chr22:g.29366725A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||2/20|ENST00000432560.6:c.37+482T>C|||||||rs6006109||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29366725A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||2/3|ENST00000473606.1:n.167+482T>C|||||||rs6006109||-1||HGNC|HGNC:554|2||||||||Ensembl||A|A||1||chr22:g.29366725A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+5528A>G|||||||rs6006109||1||||||||||||Ensembl||A|A||||chr22:g.29366725A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||2/22|NM_001127.4:c.37+482T>C|||||||rs6006109||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29366725A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||2/20|NM_001166019.2:c.37+482T>C|||||||rs6006109||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29366725A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||2/21|NM_001378562.1:c.37+482T>C|||||||rs6006109||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29366725A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||2/21|NM_001378563.1:c.37+482T>C|||||||rs6006109||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29366725A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||2/20|NM_001378564.1:c.-29+482T>C|||||||rs6006109||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29366725A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||2/20|NM_001378565.1:c.-29+482T>C|||||||rs6006109||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29366725A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||2/20|NM_001378566.1:c.37+482T>C|||||||rs6006109||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29366725A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||2/20|NM_145730.3:c.37+482T>C|||||||rs6006109||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29366725A>G|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|-28|46|-28|-9;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53424;gnomADv4_1_AC_joint_XX=26900;gnomADv4_1_AC_joint_XY=26524;gnomADv4_1_AF_grpmax_joint=0.664141;gnomADv4_1_AF_joint=0.352867;gnomADv4_1_AF_joint_XX=0.347195;gnomADv4_1_AF_joint_XY=0.358811;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=151400;gnomADv4_1_AN_joint_XX=77478;gnomADv4_1_AN_joint_XY=73922;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10323;gnomADv4_1_nhomalt_joint_XX=5121;gnomADv4_1_nhomalt_joint_XY=5202;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29366833 chr22_29366833_GACAC_G;chr22_29366833_GACACACAC_G;chr22_29366833_G_GACAC GACAC G 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=1.881;CADDIndel_Rawscore=0.147688;CSQ=-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||2/20|ENST00000317368.11:c.37+370_37+373del|||||||rs200885223||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||ACAC|ACAC||1||chr22:g.29366879_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||2/22|ENST00000357586.7:c.37+370_37+373del|||||||rs200885223||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||ACAC|ACAC||1||chr22:g.29366879_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||2/20|ENST00000405198.6:c.37+370_37+373del|||||||rs200885223||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||ACAC|ACAC||1||chr22:g.29366879_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||2/12|ENST00000421126.5:c.37+370_37+373del|||||||rs200885223||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||ACAC|ACAC||1||chr22:g.29366879_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||2/20|ENST00000432560.6:c.37+370_37+373del|||||||rs200885223||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||ACAC|ACAC||1||chr22:g.29366879_29366882del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||2/3|ENST00000473606.1:n.167+370_167+373del|||||||rs200885223||-1||HGNC|HGNC:554|2||||||||Ensembl||ACAC|ACAC||1||chr22:g.29366879_29366882del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+5682_130+5685del|||||||rs200885223||1||||||||||||Ensembl||ACAC|ACAC|||45|chr22:g.29366879_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||2/22|NM_001127.4:c.37+370_37+373del|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||ACAC|ACAC||||chr22:g.29366879_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||2/20|NM_001166019.2:c.37+370_37+373del|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||ACAC|ACAC||||chr22:g.29366879_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||2/21|NM_001378562.1:c.37+370_37+373del|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||ACAC|ACAC||||chr22:g.29366879_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||2/21|NM_001378563.1:c.37+370_37+373del|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||ACAC|ACAC||||chr22:g.29366879_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||2/20|NM_001378564.1:c.-29+370_-29+373del|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||ACAC|ACAC||||chr22:g.29366879_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||2/20|NM_001378565.1:c.-29+370_-29+373del|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||ACAC|ACAC||||chr22:g.29366879_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||2/20|NM_001378566.1:c.37+370_37+373del|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||ACAC|ACAC||||chr22:g.29366879_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||2/20|NM_145730.3:c.37+370_37+373del|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||ACAC|ACAC||||chr22:g.29366879_29366882del|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|-11|-37|45|41;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37134;gnomADv4_1_AC_joint_XX=19817;gnomADv4_1_AC_joint_XY=17317;gnomADv4_1_AF_grpmax_joint=0.364439;gnomADv4_1_AF_joint=0.283267;gnomADv4_1_AF_joint_XX=0.287353;gnomADv4_1_AF_joint_XY=0.278731;gnomADv4_1_AN_grpmax_joint=61972;gnomADv4_1_AN_joint=131092;gnomADv4_1_AN_joint_XX=68964;gnomADv4_1_AN_joint_XY=62128;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5845;gnomADv4_1_nhomalt_joint_XX=3186;gnomADv4_1_nhomalt_joint_XY=2659;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29366833 chr22_29366833_GACAC_G;chr22_29366833_GACACACAC_G;chr22_29366833_G_GACAC GACACACAC G 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=2.181;CADDIndel_Rawscore=0.186906;CSQ=-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||2/20|ENST00000317368.11:c.37+366_37+373del|||||||rs200885223||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||ACACACAC|ACACACAC||1||chr22:g.29366875_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||2/22|ENST00000357586.7:c.37+366_37+373del|||||||rs200885223||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||ACACACAC|ACACACAC||1||chr22:g.29366875_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||2/20|ENST00000405198.6:c.37+366_37+373del|||||||rs200885223||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||ACACACAC|ACACACAC||1||chr22:g.29366875_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||2/12|ENST00000421126.5:c.37+366_37+373del|||||||rs200885223||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||ACACACAC|ACACACAC||1||chr22:g.29366875_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||2/20|ENST00000432560.6:c.37+366_37+373del|||||||rs200885223||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||ACACACAC|ACACACAC||1||chr22:g.29366875_29366882del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||2/3|ENST00000473606.1:n.167+366_167+373del|||||||rs200885223||-1||HGNC|HGNC:554|2||||||||Ensembl||ACACACAC|ACACACAC||1||chr22:g.29366875_29366882del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+5678_130+5685del|||||||rs200885223||1||||||||||||Ensembl||ACACACAC|ACACACAC|||41|chr22:g.29366875_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||2/22|NM_001127.4:c.37+366_37+373del|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.29366875_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||2/20|NM_001166019.2:c.37+366_37+373del|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.29366875_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||2/21|NM_001378562.1:c.37+366_37+373del|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.29366875_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||2/21|NM_001378563.1:c.37+366_37+373del|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.29366875_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||2/20|NM_001378564.1:c.-29+366_-29+373del|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.29366875_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||2/20|NM_001378565.1:c.-29+366_-29+373del|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.29366875_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||2/20|NM_001378566.1:c.37+366_37+373del|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.29366875_29366882del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||2/20|NM_145730.3:c.37+366_37+373del|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||ACACACAC|ACACACAC||||chr22:g.29366875_29366882del|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7598;gnomADv4_1_AC_joint_XX=4090;gnomADv4_1_AC_joint_XY=3508;gnomADv4_1_AF_grpmax_joint=0.0804046;gnomADv4_1_AF_joint=0.0578516;gnomADv4_1_AF_joint_XX=0.0592187;gnomADv4_1_AF_joint_XY=0.0563353;gnomADv4_1_AN_grpmax_joint=62086;gnomADv4_1_AN_joint=131336;gnomADv4_1_AN_joint_XX=69066;gnomADv4_1_AN_joint_XY=62270;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=248;gnomADv4_1_nhomalt_joint_XX=144;gnomADv4_1_nhomalt_joint_XY=104;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29366833 chr22_29366833_GACAC_G;chr22_29366833_GACACACAC_G;chr22_29366833_G_GACAC G GACAC 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=26;CADDIndel_PHREDscore=3.346;CADDIndel_Rawscore=0.306749;CSQ=ACAC|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||2/20|ENST00000317368.11:c.37+370_37+373dup|||||||rs200885223||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl|||||1||chr22:g.29366879_29366882dup|||||||||||||,ACAC|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||2/22|ENST00000357586.7:c.37+370_37+373dup|||||||rs200885223||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl|||||1||chr22:g.29366879_29366882dup|||||||||||||,ACAC|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||2/20|ENST00000405198.6:c.37+370_37+373dup|||||||rs200885223||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29366879_29366882dup|||||||||||||,ACAC|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||2/12|ENST00000421126.5:c.37+370_37+373dup|||||||rs200885223||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl|||||1||chr22:g.29366879_29366882dup|||||||||||||,ACAC|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||2/20|ENST00000432560.6:c.37+370_37+373dup|||||||rs200885223||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29366879_29366882dup|||||||||||||,ACAC|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||2/3|ENST00000473606.1:n.167+370_167+373dup|||||||rs200885223||-1||HGNC|HGNC:554|2||||||||Ensembl|||||1||chr22:g.29366879_29366882dup|||||||||||||,ACAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+5682_130+5685dup|||||||rs200885223||1||||||||||||Ensembl||||||49|chr22:g.29366879_29366882dup|||||||||||||,ACAC|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||2/22|NM_001127.4:c.37+370_37+373dup|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq|||||||chr22:g.29366879_29366882dup|||||||||||||,ACAC|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||2/20|NM_001166019.2:c.37+370_37+373dup|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq|||||||chr22:g.29366879_29366882dup|||||||||||||,ACAC|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||2/21|NM_001378562.1:c.37+370_37+373dup|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq|||||||chr22:g.29366879_29366882dup|||||||||||||,ACAC|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||2/21|NM_001378563.1:c.37+370_37+373dup|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq|||||||chr22:g.29366879_29366882dup|||||||||||||,ACAC|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||2/20|NM_001378564.1:c.-29+370_-29+373dup|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq|||||||chr22:g.29366879_29366882dup|||||||||||||,ACAC|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||2/20|NM_001378565.1:c.-29+370_-29+373dup|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq|||||||chr22:g.29366879_29366882dup|||||||||||||,ACAC|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||2/20|NM_001378566.1:c.37+370_37+373dup|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq|||||||chr22:g.29366879_29366882dup|||||||||||||,ACAC|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||2/20|NM_145730.3:c.37+370_37+373dup|||||||rs200885223||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq|||||||chr22:g.29366879_29366882dup|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4580;gnomADv4_1_AC_joint_XX=2317;gnomADv4_1_AC_joint_XY=2263;gnomADv4_1_AF_grpmax_joint=0.0623846;gnomADv4_1_AF_joint=0.0348835;gnomADv4_1_AF_joint_XX=0.0335573;gnomADv4_1_AF_joint_XY=0.0363546;gnomADv4_1_AN_grpmax_joint=34672;gnomADv4_1_AN_joint=131294;gnomADv4_1_AN_joint_XX=69046;gnomADv4_1_AN_joint_XY=62248;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=131;gnomADv4_1_nhomalt_joint_XX=68;gnomADv4_1_nhomalt_joint_XY=63;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29367338 chr22_29367338_G_GGGA G GGGA 25 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=25;CADDIndel_PHREDscore=0.813;CADDIndel_Rawscore=-0.070938;CSQ=GGA|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-71_-27-69dup|||||||rs3044023||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl|||||1||chr22:g.29367343_29367345dup|||1||||||||||,GGA|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-71_-27-69dup|||||||rs3044023||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl|||||1||chr22:g.29367343_29367345dup|||1||||||||||,GGA|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-71_-27-69dup|||||||rs3044023||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29367343_29367345dup|||1||||||||||,GGA|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||1/12|ENST00000421126.5:c.-27-71_-27-69dup|||||||rs3044023||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl|||||1||chr22:g.29367343_29367345dup|||1||||||||||,GGA|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-71_-27-69dup|||||||rs3044023||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29367343_29367345dup|||1||||||||||,GGA|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-74_107-72dup|||||||rs3044023||-1||HGNC|HGNC:554|2||||||||Ensembl|||||1||chr22:g.29367343_29367345dup|||1||||||||||,GGA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+6146_130+6148dup|||||||rs3044023||1||||||||||||Ensembl||||||7|chr22:g.29367343_29367345dup|||1||||||||||,GGA|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-71_-27-69dup|||||||rs3044023||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq|||||||chr22:g.29367343_29367345dup|||1||||||||||,GGA|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-71_-27-69dup|||||||rs3044023||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq|||||||chr22:g.29367343_29367345dup|||1||||||||||,GGA|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-71_-27-69dup|||||||rs3044023||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq|||||||chr22:g.29367343_29367345dup|||1||||||||||,GGA|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-71_-27-69dup|||||||rs3044023||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq|||||||chr22:g.29367343_29367345dup|||1||||||||||,GGA|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-71_-92-69dup|||||||rs3044023||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq|||||||chr22:g.29367343_29367345dup|||1||||||||||,GGA|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-71_-92-69dup|||||||rs3044023||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq|||||||chr22:g.29367343_29367345dup|||1||||||||||,GGA|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-71_-27-69dup|||||||rs3044023||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq|||||||chr22:g.29367343_29367345dup|||1||||||||||,GGA|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-71_-27-69dup|||||||rs3044023||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq|||||||chr22:g.29367343_29367345dup|||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29367340GAG[3];ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=AP1B1:162;ClinVar_Variation_ID=1242365;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=GGA,GGA,GGA,GGA,GGA,GGA,GGA,GGA,GGA,GGA,GGA,GGA,GGA,GGA,GGA;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=108911;gnomADv4_1_AC_joint_XX=54738;gnomADv4_1_AC_joint_XY=54173;gnomADv4_1_AF_grpmax_joint=0.471624;gnomADv4_1_AF_joint=0.196614;gnomADv4_1_AF_joint_XX=0.209742;gnomADv4_1_AF_joint_XY=0.184919;gnomADv4_1_AN_grpmax_joint=22766;gnomADv4_1_AN_joint=553934;gnomADv4_1_AN_joint_XX=260978;gnomADv4_1_AN_joint_XY=292956;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25258;gnomADv4_1_nhomalt_joint_XX=12956;gnomADv4_1_nhomalt_joint_XY=12302;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29367462 chr22_29367462_C_T C T 41 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.157;CADD_Rawscore=-0.491083;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-192G>A|||||||rs4034938||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29367462C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-192G>A|||||||rs4034938||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29367462C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-192G>A|||||||rs4034938||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29367462C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||1/12|ENST00000421126.5:c.-27-192G>A|||||||rs4034938||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||C|C||1||chr22:g.29367462C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-192G>A|||||||rs4034938||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29367462C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-195G>A|||||||rs4034938||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29367462C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+6265C>T|||||||rs4034938||1||||||||||||Ensembl||C|C||||chr22:g.29367462C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-192G>A|||||||rs4034938||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29367462C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-192G>A|||||||rs4034938||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29367462C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-192G>A|||||||rs4034938||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29367462C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-192G>A|||||||rs4034938||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29367462C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-192G>A|||||||rs4034938||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29367462C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-192G>A|||||||rs4034938||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29367462C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-192G>A|||||||rs4034938||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29367462C>T|benign||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-192G>A|||||||rs4034938||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29367462C>T|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29367462C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=AP1B1:162;ClinVar_Variation_ID=1223013;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.00|0.00|37|0|10|0;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52610;gnomADv4_1_AC_joint_XX=26558;gnomADv4_1_AC_joint_XY=26052;gnomADv4_1_AF_grpmax_joint=0.671149;gnomADv4_1_AF_joint=0.373645;gnomADv4_1_AF_joint_XX=0.365641;gnomADv4_1_AF_joint_XY=0.382173;gnomADv4_1_AN_grpmax_joint=4908;gnomADv4_1_AN_joint=140802;gnomADv4_1_AN_joint_XX=72634;gnomADv4_1_AN_joint_XY=68168;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10071;gnomADv4_1_nhomalt_joint_XX=5000;gnomADv4_1_nhomalt_joint_XY=5071;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29368675 chr22_29368675_T_C T C 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=0.235;CADD_Rawscore=-0.385339;CSQ=C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-1405A>G|||||||rs762697472||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22:g.29368675T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-1405A>G|||||||rs762697472||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22:g.29368675T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-1405A>G|||||||rs762697472||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29368675T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||1/12|ENST00000421126.5:c.-27-1405A>G|||||||rs762697472||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||T|T||1||chr22:g.29368675T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-1405A>G|||||||rs762697472||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29368675T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-1408A>G|||||||rs762697472||-1||HGNC|HGNC:554|2||||||||Ensembl||T|T||1||chr22:g.29368675T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+7478T>C|||||||rs762697472||1||||||||||||Ensembl||T|T||||chr22:g.29368675T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-1405A>G|||||||rs762697472||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||T|T||||chr22:g.29368675T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-1405A>G|||||||rs762697472||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||T|T||||chr22:g.29368675T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-1405A>G|||||||rs762697472||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||T|T||||chr22:g.29368675T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-1405A>G|||||||rs762697472||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||T|T||||chr22:g.29368675T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-1405A>G|||||||rs762697472||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||T|T||||chr22:g.29368675T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-1405A>G|||||||rs762697472||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||T|T||||chr22:g.29368675T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-1405A>G|||||||rs762697472||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||T|T||||chr22:g.29368675T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-1405A>G|||||||rs762697472||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||T|T||||chr22:g.29368675T>C|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|-10|-6|-10|2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=161;gnomADv4_1_AC_joint_XX=79;gnomADv4_1_AC_joint_XY=82;gnomADv4_1_AF_grpmax_joint=0.000617683;gnomADv4_1_AF_joint=0.00105783;gnomADv4_1_AF_joint_XX=0.00101584;gnomADv4_1_AF_joint_XY=0.00110171;gnomADv4_1_AN_grpmax_joint=67996;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29369393 chr22_29369393_A_T A T 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.383;CADD_Rawscore=0.066797;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-2123T>A|||||||rs2267133||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29369393A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-2123T>A|||||||rs2267133||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29369393A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-2123T>A|||||||rs2267133||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29369393A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||1/12|ENST00000421126.5:c.-28+1120T>A|||||||rs2267133||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||A|A||1||chr22:g.29369393A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-2123T>A|||||||rs2267133||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29369393A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-2126T>A|||||||rs2267133||-1||HGNC|HGNC:554|2||||||||Ensembl||A|A||1||chr22:g.29369393A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+8196A>T|||||||rs2267133||1||||||||||||Ensembl||A|A||||chr22:g.29369393A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-2123T>A|||||||rs2267133||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29369393A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-2123T>A|||||||rs2267133||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29369393A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-2123T>A|||||||rs2267133||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29369393A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-2123T>A|||||||rs2267133||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29369393A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-2123T>A|||||||rs2267133||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29369393A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-2123T>A|||||||rs2267133||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29369393A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-2123T>A|||||||rs2267133||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29369393A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-2123T>A|||||||rs2267133||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29369393A>T|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.23|0.00|0.33|0.00|-4|-36|-36|40;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=92105;gnomADv4_1_AC_joint_XX=47111;gnomADv4_1_AC_joint_XY=44994;gnomADv4_1_AF_grpmax_joint=0.759621;gnomADv4_1_AF_joint=0.608548;gnomADv4_1_AF_joint_XX=0.609378;gnomADv4_1_AF_joint_XY=0.607682;gnomADv4_1_AN_grpmax_joint=40898;gnomADv4_1_AN_joint=151352;gnomADv4_1_AN_joint_XX=77310;gnomADv4_1_AN_joint_XY=74042;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=28685;gnomADv4_1_nhomalt_joint_XX=14693;gnomADv4_1_nhomalt_joint_XY=13992;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29369837 chr22_29369837_ATT_A ATT A 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.696;CADDIndel_Rawscore=-0.110459;CSQ=-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-2569_-27-2568del|||||||rs564733165||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||TT|TT||1||chr22:g.29369857_29369858del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-2569_-27-2568del|||||||rs564733165||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||TT|TT||1||chr22:g.29369857_29369858del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-2569_-27-2568del|||||||rs564733165||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||TT|TT||1||chr22:g.29369857_29369858del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||1/12|ENST00000421126.5:c.-28+674_-28+675del|||||||rs564733165||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||TT|TT||1||chr22:g.29369857_29369858del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-2569_-27-2568del|||||||rs564733165||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||TT|TT||1||chr22:g.29369857_29369858del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-2572_107-2571del|||||||rs564733165||-1||HGNC|HGNC:554|2||||||||Ensembl||TT|TT||1||chr22:g.29369857_29369858del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+8660_130+8661del|||||||rs564733165||1||||||||||||Ensembl||TT|TT|||19|chr22:g.29369857_29369858del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-2569_-27-2568del|||||||rs564733165||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||TT|TT||||chr22:g.29369857_29369858del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-2569_-27-2568del|||||||rs564733165||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||TT|TT||||chr22:g.29369857_29369858del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-2569_-27-2568del|||||||rs564733165||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||TT|TT||||chr22:g.29369857_29369858del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-2569_-27-2568del|||||||rs564733165||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||TT|TT||||chr22:g.29369857_29369858del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-2569_-92-2568del|||||||rs564733165||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||TT|TT||||chr22:g.29369857_29369858del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-2569_-92-2568del|||||||rs564733165||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||TT|TT||||chr22:g.29369857_29369858del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-2569_-27-2568del|||||||rs564733165||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||TT|TT||||chr22:g.29369857_29369858del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-2569_-27-2568del|||||||rs564733165||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||TT|TT||||chr22:g.29369857_29369858del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FMQ6|enhancer||||||||||rs564733165|||||||||||||||||||||chr22:g.29369857_29369858del|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|AP1B1|0.00|0.00|0.00|0.00|-47|-16|-14|-45;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3,ENSR22_9FMQ6;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162,.;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8699;gnomADv4_1_AC_joint_XX=4480;gnomADv4_1_AC_joint_XY=4219;gnomADv4_1_AF_grpmax_joint=0.104396;gnomADv4_1_AF_joint=0.0725207;gnomADv4_1_AF_joint_XX=0.0711993;gnomADv4_1_AF_joint_XY=0.0739786;gnomADv4_1_AN_grpmax_joint=3640;gnomADv4_1_AN_joint=119952;gnomADv4_1_AN_joint_XX=62922;gnomADv4_1_AN_joint_XY=57030;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=242;gnomADv4_1_nhomalt_joint_XX=125;gnomADv4_1_nhomalt_joint_XY=117;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29370315 chr22_29370315_T_A T A 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.029;CADD_Rawscore=0.2772;CSQ=A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-3045A>T|||||||rs4820809||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22:g.29370315T>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-3045A>T|||||||rs4820809||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22:g.29370315T>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-3045A>T|||||||rs4820809||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29370315T>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||1/12|ENST00000421126.5:c.-28+198A>T|||||||rs4820809||-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||T|T||1||chr22:g.29370315T>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-3045A>T|||||||rs4820809||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29370315T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-3048A>T|||||||rs4820809||-1||HGNC|HGNC:554|2||||||||Ensembl||T|T||1||chr22:g.29370315T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+9118T>A|||||||rs4820809||1||||||||||||Ensembl||T|T||||chr22:g.29370315T>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-3045A>T|||||||rs4820809||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||T|T||||chr22:g.29370315T>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-3045A>T|||||||rs4820809||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||T|T||||chr22:g.29370315T>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-3045A>T|||||||rs4820809||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||T|T||||chr22:g.29370315T>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-3045A>T|||||||rs4820809||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||T|T||||chr22:g.29370315T>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-3045A>T|||||||rs4820809||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||T|T||||chr22:g.29370315T>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-3045A>T|||||||rs4820809||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||T|T||||chr22:g.29370315T>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-3045A>T|||||||rs4820809||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||T|T||||chr22:g.29370315T>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-3045A>T|||||||rs4820809||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||T|T||||chr22:g.29370315T>A|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|AP1B1|0.00|0.00|0.00|0.00|36|-27|13|1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53496;gnomADv4_1_AC_joint_XX=26909;gnomADv4_1_AC_joint_XY=26587;gnomADv4_1_AF_grpmax_joint=0.664916;gnomADv4_1_AF_joint=0.353585;gnomADv4_1_AF_joint_XX=0.347715;gnomADv4_1_AF_joint_XY=0.359731;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=151296;gnomADv4_1_AN_joint_XX=77388;gnomADv4_1_AN_joint_XY=73908;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10338;gnomADv4_1_nhomalt_joint_XX=5117;gnomADv4_1_nhomalt_joint_XY=5221;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29370906 chr22_29370906_C_T C T 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=6.742;CADD_Rawscore=0.63035;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-3636G>A|||||||rs174770||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29370906C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-3636G>A|||||||rs174770||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29370906C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-3636G>A|||||||rs174770||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29370906C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||||||||||rs174770|247|-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||C|C||1||chr22:g.29370906C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-3636G>A|||||||rs174770||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29370906C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-3639G>A|||||||rs174770||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29370906C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+9709C>T|||||||rs174770||1||||||||||||Ensembl||C|C||||chr22:g.29370906C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-3636G>A|||||||rs174770||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29370906C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-3636G>A|||||||rs174770||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29370906C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-3636G>A|||||||rs174770||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29370906C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-3636G>A|||||||rs174770||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29370906C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-3636G>A|||||||rs174770||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29370906C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-3636G>A|||||||rs174770||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29370906C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-3636G>A|||||||rs174770||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29370906C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-3636G>A|||||||rs174770||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29370906C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FMQG|enhancer||||||||||rs174770|||||||||||||||||||||chr22:g.29370906C>T|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.00|0.00|-2|44|-2|-47;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3,ENSR22_9FMQG;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162,.;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=93007;gnomADv4_1_AC_joint_XX=47646;gnomADv4_1_AC_joint_XY=45361;gnomADv4_1_AF_grpmax_joint=0.780964;gnomADv4_1_AF_joint=0.612154;gnomADv4_1_AF_joint_XX=0.613205;gnomADv4_1_AF_joint_XY=0.611054;gnomADv4_1_AN_grpmax_joint=41468;gnomADv4_1_AN_joint=151934;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74234;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=29524;gnomADv4_1_nhomalt_joint_XX=15162;gnomADv4_1_nhomalt_joint_XY=14362;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29370977 chr22_29370977_G_A G A 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=9.876;CADD_Rawscore=0.960585;CSQ=A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-3707C>T|||||||rs2267134||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29370977G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-3707C>T|||||||rs2267134||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29370977G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-3707C>T|||||||rs2267134||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29370977G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||||||||||rs2267134|318|-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||G|G||1||chr22:g.29370977G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-3707C>T|||||||rs2267134||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29370977G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-3710C>T|||||||rs2267134||-1||HGNC|HGNC:554|2||||||||Ensembl||G|G||1||chr22:g.29370977G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+9780G>A|||||||rs2267134||1||||||||||||Ensembl||G|G||||chr22:g.29370977G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-3707C>T|||||||rs2267134||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29370977G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-3707C>T|||||||rs2267134||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29370977G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-3707C>T|||||||rs2267134||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29370977G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-3707C>T|||||||rs2267134||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29370977G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-3707C>T|||||||rs2267134||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29370977G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-3707C>T|||||||rs2267134||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29370977G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-3707C>T|||||||rs2267134||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29370977G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-3707C>T|||||||rs2267134||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29370977G>A|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|AP1B1|0.00|0.00|0.00|0.00|-5|-3|2|-3;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15606;gnomADv4_1_AC_joint_XX=7166;gnomADv4_1_AC_joint_XY=8440;gnomADv4_1_AF_grpmax_joint=0.374322;gnomADv4_1_AF_joint=0.102539;gnomADv4_1_AF_joint_XX=0.0921222;gnomADv4_1_AF_joint_XY=0.113429;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152196;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1380;gnomADv4_1_nhomalt_joint_XX=572;gnomADv4_1_nhomalt_joint_XY=808;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29371045 chr22_29371045_A_G A G 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=3.635;CADD_Rawscore=0.332823;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-3775T>C|||||||rs2267135||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29371045A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-3775T>C|||||||rs2267135||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29371045A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-3775T>C|||||||rs2267135||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29371045A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||||||||||rs2267135|386|-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||A|A||1||chr22:g.29371045A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-3775T>C|||||||rs2267135||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29371045A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-3778T>C|||||||rs2267135||-1||HGNC|HGNC:554|2||||||||Ensembl||A|A||1||chr22:g.29371045A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+9848A>G|||||||rs2267135||1||||||||||||Ensembl||A|A||||chr22:g.29371045A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-3775T>C|||||||rs2267135||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29371045A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-3775T>C|||||||rs2267135||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29371045A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-3775T>C|||||||rs2267135||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29371045A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-3775T>C|||||||rs2267135||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29371045A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-3775T>C|||||||rs2267135||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29371045A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-3775T>C|||||||rs2267135||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29371045A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-3775T>C|||||||rs2267135||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29371045A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-3775T>C|||||||rs2267135||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29371045A>G|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|10|-5|49|44;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56592;gnomADv4_1_AC_joint_XX=28415;gnomADv4_1_AC_joint_XY=28177;gnomADv4_1_AF_grpmax_joint=0.674757;gnomADv4_1_AF_joint=0.372453;gnomADv4_1_AF_joint_XX=0.365814;gnomADv4_1_AF_joint_XY=0.379396;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151944;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11448;gnomADv4_1_nhomalt_joint_XX=5647;gnomADv4_1_nhomalt_joint_XY=5801;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29371936 chr22_29371936_A_G A G 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=4.214;CADD_Rawscore=0.384269;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-4666T>C|||||||rs2267136||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29371936A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-4666T>C|||||||rs2267136||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29371936A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-4666T>C|||||||rs2267136||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29371936A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||||||||||rs2267136|1277|-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||A|A||1||chr22:g.29371936A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-4666T>C|||||||rs2267136||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29371936A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-4669T>C|||||||rs2267136||-1||HGNC|HGNC:554|2||||||||Ensembl||A|A||1||chr22:g.29371936A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+10739A>G|||||||rs2267136||1||||||||||||Ensembl||A|A||||chr22:g.29371936A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-4666T>C|||||||rs2267136||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29371936A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-4666T>C|||||||rs2267136||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29371936A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-4666T>C|||||||rs2267136||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29371936A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-4666T>C|||||||rs2267136||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29371936A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-4666T>C|||||||rs2267136||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29371936A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-4666T>C|||||||rs2267136||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29371936A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-4666T>C|||||||rs2267136||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29371936A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-4666T>C|||||||rs2267136||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29371936A>G|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|46|47|-8|47;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53667;gnomADv4_1_AC_joint_XX=27004;gnomADv4_1_AC_joint_XY=26663;gnomADv4_1_AF_grpmax_joint=0.665632;gnomADv4_1_AF_joint=0.353151;gnomADv4_1_AF_joint_XX=0.347569;gnomADv4_1_AF_joint_XY=0.358991;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151966;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10381;gnomADv4_1_nhomalt_joint_XX=5146;gnomADv4_1_nhomalt_joint_XY=5235;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29373100 chr22_29373100_A_T A T 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.303;CADD_Rawscore=0.201567;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-5830T>A|||||||rs5763171||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29373100A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-5830T>A|||||||rs5763171||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29373100A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-5830T>A|||||||rs5763171||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29373100A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||||||||||rs5763171|2441|-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||A|A||1||chr22:g.29373100A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-5830T>A|||||||rs5763171||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29373100A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-5833T>A|||||||rs5763171||-1||HGNC|HGNC:554|2||||||||Ensembl||A|A||1||chr22:g.29373100A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+11903A>T|||||||rs5763171||1||||||||||||Ensembl||A|A||||chr22:g.29373100A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-5830T>A|||||||rs5763171||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29373100A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-5830T>A|||||||rs5763171||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29373100A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-5830T>A|||||||rs5763171||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29373100A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-5830T>A|||||||rs5763171||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29373100A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-5830T>A|||||||rs5763171||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29373100A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-5830T>A|||||||rs5763171||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29373100A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-5830T>A|||||||rs5763171||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29373100A>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-5830T>A|||||||rs5763171||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29373100A>T|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.00|0.00|45|-9|10|46;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46343;gnomADv4_1_AC_joint_XX=23187;gnomADv4_1_AC_joint_XY=23156;gnomADv4_1_AF_grpmax_joint=0.665951;gnomADv4_1_AF_joint=0.305109;gnomADv4_1_AF_joint_XX=0.298363;gnomADv4_1_AF_joint_XY=0.312176;gnomADv4_1_AN_grpmax_joint=5122;gnomADv4_1_AN_joint=151890;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74176;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7598;gnomADv4_1_nhomalt_joint_XX=3703;gnomADv4_1_nhomalt_joint_XY=3895;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29373317 chr22_29373317_C_A C A 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.154;CADD_Rawscore=-0.496407;CSQ=A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-6047G>T|||||||rs5752903||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29373317C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-6047G>T|||||||rs5752903||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29373317C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-6047G>T|||||||rs5752903||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29373317C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||||||||||rs5752903|2658|-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||C|C||1||chr22:g.29373317C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-6047G>T|||||||rs5752903||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29373317C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-6050G>T|||||||rs5752903||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29373317C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+12120C>A|||||||rs5752903||1||||||||||||Ensembl||C|C||||chr22:g.29373317C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-6047G>T|||||||rs5752903||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29373317C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-6047G>T|||||||rs5752903||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29373317C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-6047G>T|||||||rs5752903||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29373317C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-6047G>T|||||||rs5752903||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29373317C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-6047G>T|||||||rs5752903||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29373317C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-6047G>T|||||||rs5752903||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29373317C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-6047G>T|||||||rs5752903||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29373317C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-6047G>T|||||||rs5752903||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29373317C>A|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|AP1B1|0.00|0.00|0.00|0.00|-3|34|37|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=99000;gnomADv4_1_AC_joint_XX=50802;gnomADv4_1_AC_joint_XY=48198;gnomADv4_1_AF_grpmax_joint=0.907102;gnomADv4_1_AF_joint=0.650879;gnomADv4_1_AF_joint_XX=0.653301;gnomADv4_1_AF_joint_XY=0.648345;gnomADv4_1_AN_grpmax_joint=41508;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=34351;gnomADv4_1_nhomalt_joint_XX=17713;gnomADv4_1_nhomalt_joint_XY=16638;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29373637 chr22_29373637_A_G A G 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.008;CADD_Rawscore=-1.32139;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-6367T>C|||||||rs5763172||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29373637A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-6367T>C|||||||rs5763172||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29373637A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-6367T>C|||||||rs5763172||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29373637A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||||||||||rs5763172|2978|-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||A|A||1||chr22:g.29373637A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-6367T>C|||||||rs5763172||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29373637A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-6370T>C|||||||rs5763172||-1||HGNC|HGNC:554|2||||||||Ensembl||A|A||1||chr22:g.29373637A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+12440A>G|||||||rs5763172||1||||||||||||Ensembl||A|A||||chr22:g.29373637A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-6367T>C|||||||rs5763172||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29373637A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-6367T>C|||||||rs5763172||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29373637A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-6367T>C|||||||rs5763172||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29373637A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-6367T>C|||||||rs5763172||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29373637A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-6367T>C|||||||rs5763172||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29373637A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-6367T>C|||||||rs5763172||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29373637A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-6367T>C|||||||rs5763172||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29373637A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-6367T>C|||||||rs5763172||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29373637A>G|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|-21|-9|-23|48;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56672;gnomADv4_1_AC_joint_XX=28473;gnomADv4_1_AC_joint_XY=28199;gnomADv4_1_AF_grpmax_joint=0.675639;gnomADv4_1_AF_joint=0.372744;gnomADv4_1_AF_joint_XX=0.366306;gnomADv4_1_AF_joint_XY=0.379478;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11482;gnomADv4_1_nhomalt_joint_XX=5671;gnomADv4_1_nhomalt_joint_XY=5811;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29373710 chr22_29373710_C_G C G 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.74;CADD_Rawscore=0.127099;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-6440G>C|||||||rs5763173||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29373710C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-6440G>C|||||||rs5763173||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29373710C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-6440G>C|||||||rs5763173||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29373710C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||||||||||rs5763173|3051|-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||C|C||1||chr22:g.29373710C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-6440G>C|||||||rs5763173||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29373710C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-6443G>C|||||||rs5763173||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29373710C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+12513C>G|||||||rs5763173||1||||||||||||Ensembl||C|C||||chr22:g.29373710C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-6440G>C|||||||rs5763173||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29373710C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-6440G>C|||||||rs5763173||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29373710C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-6440G>C|||||||rs5763173||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29373710C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-6440G>C|||||||rs5763173||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29373710C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-6440G>C|||||||rs5763173||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29373710C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-6440G>C|||||||rs5763173||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29373710C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-6440G>C|||||||rs5763173||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29373710C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-6440G>C|||||||rs5763173||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29373710C>G|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|24|0|-25|0;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53694;gnomADv4_1_AC_joint_XX=26982;gnomADv4_1_AC_joint_XY=26712;gnomADv4_1_AF_grpmax_joint=0.666086;gnomADv4_1_AF_joint=0.353385;gnomADv4_1_AF_joint_XX=0.347491;gnomADv4_1_AF_joint_XY=0.359545;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151942;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10386;gnomADv4_1_nhomalt_joint_XX=5133;gnomADv4_1_nhomalt_joint_XY=5253;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29373965 chr22_29373965_A_AG A AG 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.913;CADDIndel_Rawscore=-0.041228;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-6696dup|||||||rs538570492||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl|||||1||chr22:g.29373971dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-6696dup|||||||rs538570492||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl|||||1||chr22:g.29373971dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-6696dup|||||||rs538570492||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29373971dup|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||||||||||rs538570492|3306|-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl|||||1||chr22:g.29373971dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-6696dup|||||||rs538570492||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29373971dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-6699dup|||||||rs538570492||-1||HGNC|HGNC:554|2||||||||Ensembl|||||1||chr22:g.29373971dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+12774dup|||||||rs538570492||1||||||||||||Ensembl||||||6|chr22:g.29373971dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-6696dup|||||||rs538570492||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq|||||||chr22:g.29373971dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-6696dup|||||||rs538570492||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq|||||||chr22:g.29373971dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-6696dup|||||||rs538570492||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq|||||||chr22:g.29373971dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-6696dup|||||||rs538570492||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq|||||||chr22:g.29373971dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-6696dup|||||||rs538570492||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq|||||||chr22:g.29373971dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-6696dup|||||||rs538570492||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq|||||||chr22:g.29373971dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-6696dup|||||||rs538570492||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq|||||||chr22:g.29373971dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-6696dup|||||||rs538570492||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq|||||||chr22:g.29373971dup|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=AG|AP1B1|0.00|0.00|0.00|0.00|-4|-43|-27|15;TYPE=INDEL;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45483;gnomADv4_1_AC_joint_XX=22802;gnomADv4_1_AC_joint_XY=22681;gnomADv4_1_AF_grpmax_joint=0.66475;gnomADv4_1_AF_joint=0.303192;gnomADv4_1_AF_joint_XX=0.296507;gnomADv4_1_AF_joint_XY=0.310223;gnomADv4_1_AN_grpmax_joint=5044;gnomADv4_1_AN_joint=150014;gnomADv4_1_AN_joint_XX=76902;gnomADv4_1_AN_joint_XY=73112;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7414;gnomADv4_1_nhomalt_joint_XX=3620;gnomADv4_1_nhomalt_joint_XY=3794;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29374285 chr22_29374285_G_GAAAT G GAAAT 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=5.93;CADDIndel_Rawscore=0.546119;CSQ=AAAT|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-7016_-27-7015insATTT|||||||rs10667003||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl|||||1||chr22:g.29374288_29374289insTAAA|||||||||||||,AAAT|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-7016_-27-7015insATTT|||||||rs10667003||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl|||||1||chr22:g.29374288_29374289insTAAA|||||||||||||,AAAT|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-7016_-27-7015insATTT|||||||rs10667003||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29374288_29374289insTAAA|||||||||||||,AAAT|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||||||||||rs10667003|3626|-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl|||||1||chr22:g.29374288_29374289insTAAA|||||||||||||,AAAT|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-7016_-27-7015insATTT|||||||rs10667003||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29374288_29374289insTAAA|||||||||||||,AAAT|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-7019_107-7018insATTT|||||||rs10667003||-1||HGNC|HGNC:554|2||||||||Ensembl|||||1||chr22:g.29374288_29374289insTAAA|||||||||||||,AAAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+13091_130+13092insTAAA|||||||rs10667003||1||||||||||||Ensembl||||||3|chr22:g.29374288_29374289insTAAA|||||||||||||,AAAT|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-7016_-27-7015insATTT|||||||rs10667003||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq|||||||chr22:g.29374288_29374289insTAAA|||||||||||||,AAAT|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-7016_-27-7015insATTT|||||||rs10667003||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq|||||||chr22:g.29374288_29374289insTAAA|||||||||||||,AAAT|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-7016_-27-7015insATTT|||||||rs10667003||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq|||||||chr22:g.29374288_29374289insTAAA|||||||||||||,AAAT|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-7016_-27-7015insATTT|||||||rs10667003||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq|||||||chr22:g.29374288_29374289insTAAA|||||||||||||,AAAT|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-7016_-92-7015insATTT|||||||rs10667003||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq|||||||chr22:g.29374288_29374289insTAAA|||||||||||||,AAAT|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-7016_-92-7015insATTT|||||||rs10667003||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq|||||||chr22:g.29374288_29374289insTAAA|||||||||||||,AAAT|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-7016_-27-7015insATTT|||||||rs10667003||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq|||||||chr22:g.29374288_29374289insTAAA|||||||||||||,AAAT|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-7016_-27-7015insATTT|||||||rs10667003||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq|||||||chr22:g.29374288_29374289insTAAA|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=93203;gnomADv4_1_AC_joint_XX=47772;gnomADv4_1_AC_joint_XY=45431;gnomADv4_1_AF_grpmax_joint=0.781655;gnomADv4_1_AF_joint=0.614779;gnomADv4_1_AF_joint_XX=0.616111;gnomADv4_1_AF_joint_XY=0.613385;gnomADv4_1_AN_grpmax_joint=41320;gnomADv4_1_AN_joint=151604;gnomADv4_1_AN_joint_XX=77538;gnomADv4_1_AN_joint_XY=74066;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=29631;gnomADv4_1_nhomalt_joint_XX=15231;gnomADv4_1_nhomalt_joint_XY=14400;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29374559 chr22_29374559_GA_G GA G 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=1.301;CADDIndel_Rawscore=0.050855;CSQ=-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-7290del|||||||rs35256140||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29374562del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-7290del|||||||rs35256140||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29374562del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-7290del|||||||rs35256140||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29374562del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||||||||||rs35256140|3901|-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||A|A||1||chr22:g.29374562del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-7290del|||||||rs35256140||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29374562del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-7293del|||||||rs35256140||-1||HGNC|HGNC:554|2||||||||Ensembl||A|A||1||chr22:g.29374562del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+13365del|||||||rs35256140||1||||||||||||Ensembl||A|A|||2|chr22:g.29374562del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-7290del|||||||rs35256140||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29374562del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-7290del|||||||rs35256140||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29374562del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-7290del|||||||rs35256140||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29374562del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-7290del|||||||rs35256140||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29374562del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-7290del|||||||rs35256140||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29374562del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-7290del|||||||rs35256140||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29374562del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-7290del|||||||rs35256140||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29374562del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-7290del|||||||rs35256140||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29374562del|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|35|3|5|21;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46361;gnomADv4_1_AC_joint_XX=23156;gnomADv4_1_AC_joint_XY=23205;gnomADv4_1_AF_grpmax_joint=0.665636;gnomADv4_1_AF_joint=0.304966;gnomADv4_1_AF_joint_XX=0.297895;gnomADv4_1_AF_joint_XY=0.312365;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7592;gnomADv4_1_nhomalt_joint_XX=3686;gnomADv4_1_nhomalt_joint_XY=3906;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29375207 chr22_29375207_C_CG C CG 50 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.774;CADDIndel_Rawscore=-0.083496;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-7938dup|||||||rs5844850||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl|||||1||chr22:g.29375209dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-7938dup|||||||rs5844850||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl|||||1||chr22:g.29375209dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-7938dup|||||||rs5844850||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29375209dup|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||||||||||rs5844850|4548|-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl|||||1||chr22:g.29375209dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-7938dup|||||||rs5844850||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29375209dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-7941dup|||||||rs5844850||-1||HGNC|HGNC:554|2||||||||Ensembl|||||1||chr22:g.29375209dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+14012dup|||||||rs5844850||1||||||||||||Ensembl||||||2|chr22:g.29375209dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-7938dup|||||||rs5844850||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq|||||||chr22:g.29375209dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-7938dup|||||||rs5844850||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq|||||||chr22:g.29375209dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-7938dup|||||||rs5844850||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq|||||||chr22:g.29375209dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-7938dup|||||||rs5844850||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq|||||||chr22:g.29375209dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-7938dup|||||||rs5844850||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq|||||||chr22:g.29375209dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-7938dup|||||||rs5844850||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq|||||||chr22:g.29375209dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-7938dup|||||||rs5844850||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq|||||||chr22:g.29375209dup|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-7938dup|||||||rs5844850||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq|||||||chr22:g.29375209dup|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=CG|AP1B1|0.00|0.00|0.00|0.00|-24|-26|18|16;TYPE=INDEL;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60080;gnomADv4_1_AC_joint_XX=30327;gnomADv4_1_AC_joint_XY=29753;gnomADv4_1_AF_grpmax_joint=0.675749;gnomADv4_1_AF_joint=0.396814;gnomADv4_1_AF_joint_XX=0.391478;gnomADv4_1_AF_joint_XY=0.402405;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=151406;gnomADv4_1_AN_joint_XX=77468;gnomADv4_1_AN_joint_XY=73938;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13246;gnomADv4_1_nhomalt_joint_XX=6640;gnomADv4_1_nhomalt_joint_XY=6606;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29375349 chr22_29375349_CAAAA_C;chr22_29375349_CAAA_C CAAAA C 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADDIndel_PHREDscore=0.925;CADDIndel_Rawscore=-0.037943;CSQ=-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-8083_-27-8080del|||||||rs547697174||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||AAAA|AAAA||1||chr22:g.29375373_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-8083_-27-8080del|||||||rs547697174||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||AAAA|AAAA||1||chr22:g.29375373_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-8083_-27-8080del|||||||rs547697174||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||AAAA|AAAA||1||chr22:g.29375373_29375376del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||||||||||rs547697174|4691|-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||AAAA|AAAA||1||chr22:g.29375373_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-8083_-27-8080del|||||||rs547697174||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||AAAA|AAAA||1||chr22:g.29375373_29375376del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-8086_107-8083del|||||||rs547697174||-1||HGNC|HGNC:554|2||||||||Ensembl||AAAA|AAAA||1||chr22:g.29375373_29375376del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+14176_130+14179del|||||||rs547697174||1||||||||||||Ensembl||AAAA|AAAA|||23|chr22:g.29375373_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-8083_-27-8080del|||||||rs547697174||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||AAAA|AAAA||||chr22:g.29375373_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-8083_-27-8080del|||||||rs547697174||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||AAAA|AAAA||||chr22:g.29375373_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-8083_-27-8080del|||||||rs547697174||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||AAAA|AAAA||||chr22:g.29375373_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-8083_-27-8080del|||||||rs547697174||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||AAAA|AAAA||||chr22:g.29375373_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-8083_-92-8080del|||||||rs547697174||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||AAAA|AAAA||||chr22:g.29375373_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-8083_-92-8080del|||||||rs547697174||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||AAAA|AAAA||||chr22:g.29375373_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-8083_-27-8080del|||||||rs547697174||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||AAAA|AAAA||||chr22:g.29375373_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-8083_-27-8080del|||||||rs547697174||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||AAAA|AAAA||||chr22:g.29375373_29375376del|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|8|-27|-27|9;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3780;gnomADv4_1_AC_joint_XX=2213;gnomADv4_1_AC_joint_XY=1567;gnomADv4_1_AF_grpmax_joint=0.0947102;gnomADv4_1_AF_joint=0.0667845;gnomADv4_1_AF_joint_XX=0.0694209;gnomADv4_1_AF_joint_XY=0.0633848;gnomADv4_1_AN_grpmax_joint=30852;gnomADv4_1_AN_joint=56600;gnomADv4_1_AN_joint_XX=31878;gnomADv4_1_AN_joint_XY=24722;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29375349 chr22_29375349_CAAAA_C;chr22_29375349_CAAA_C CAAA C 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADDIndel_PHREDscore=0.255;CADDIndel_Rawscore=-0.363768;CSQ=-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-8082_-27-8080del|||||||rs547697174||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||AAA|AAA||1||chr22:g.29375374_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-8082_-27-8080del|||||||rs547697174||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||AAA|AAA||1||chr22:g.29375374_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-8082_-27-8080del|||||||rs547697174||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||AAA|AAA||1||chr22:g.29375374_29375376del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000421126|protein_coding||||||||||rs547697174|4691|-1|cds_end_NF|HGNC|HGNC:554|5||ENSP00000400022||C9J1E7.82|UPI0000D4EE7F|||Ensembl||AAA|AAA||1||chr22:g.29375374_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-8082_-27-8080del|||||||rs547697174||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||AAA|AAA||1||chr22:g.29375374_29375376del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-8085_107-8083del|||||||rs547697174||-1||HGNC|HGNC:554|2||||||||Ensembl||AAA|AAA||1||chr22:g.29375374_29375376del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+14177_130+14179del|||||||rs547697174||1||||||||||||Ensembl||AAA|AAA|||24|chr22:g.29375374_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-8082_-27-8080del|||||||rs547697174||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||AAA|AAA||||chr22:g.29375374_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-8082_-27-8080del|||||||rs547697174||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||AAA|AAA||||chr22:g.29375374_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-8082_-27-8080del|||||||rs547697174||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||AAA|AAA||||chr22:g.29375374_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-8082_-27-8080del|||||||rs547697174||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||AAA|AAA||||chr22:g.29375374_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-8082_-92-8080del|||||||rs547697174||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||AAA|AAA||||chr22:g.29375374_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-8082_-92-8080del|||||||rs547697174||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||AAA|AAA||||chr22:g.29375374_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-8082_-27-8080del|||||||rs547697174||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||AAA|AAA||||chr22:g.29375374_29375376del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-8082_-27-8080del|||||||rs547697174||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||AAA|AAA||||chr22:g.29375374_29375376del|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|-27|-6|-27|9;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000421126,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13851;gnomADv4_1_AC_joint_XX=7750;gnomADv4_1_AC_joint_XY=6101;gnomADv4_1_AF_grpmax_joint=0.439474;gnomADv4_1_AF_joint=0.253802;gnomADv4_1_AF_joint_XX=0.251476;gnomADv4_1_AF_joint_XY=0.256819;gnomADv4_1_AN_grpmax_joint=1520;gnomADv4_1_AN_joint=54574;gnomADv4_1_AN_joint_XX=30818;gnomADv4_1_AN_joint_XY=23756;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=156;gnomADv4_1_nhomalt_joint_XX=89;gnomADv4_1_nhomalt_joint_XY=67;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29375923 chr22_29375923_C_T C T 59 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.204;CADD_Rawscore=-0.421911;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-8653G>A|||||||rs6006112||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29375923C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-8653G>A|||||||rs6006112||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29375923C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-8653G>A|||||||rs6006112||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29375923C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-8653G>A|||||||rs6006112||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29375923C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-8656G>A|||||||rs6006112||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29375923C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+14726C>T|||||||rs6006112||1||||||||||||Ensembl||C|C||||chr22:g.29375923C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-8653G>A|||||||rs6006112||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29375923C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-8653G>A|||||||rs6006112||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29375923C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-8653G>A|||||||rs6006112||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29375923C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-8653G>A|||||||rs6006112||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29375923C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-8653G>A|||||||rs6006112||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29375923C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-8653G>A|||||||rs6006112||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29375923C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-8653G>A|||||||rs6006112||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29375923C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-8653G>A|||||||rs6006112||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29375923C>T|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.00|0.00|-2|19|-4|-35;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53713;gnomADv4_1_AC_joint_XX=27006;gnomADv4_1_AC_joint_XY=26707;gnomADv4_1_AF_grpmax_joint=0.66492;gnomADv4_1_AF_joint=0.353329;gnomADv4_1_AF_joint_XX=0.347505;gnomADv4_1_AF_joint_XY=0.359419;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10397;gnomADv4_1_nhomalt_joint_XX=5145;gnomADv4_1_nhomalt_joint_XY=5252;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29376402 chr22_29376402_G_C G C 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.496;CADD_Rawscore=0.223259;CSQ=C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-9132C>G|||||||rs2283850||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29376402G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-9132C>G|||||||rs2283850||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29376402G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-9132C>G|||||||rs2283850||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29376402G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-9132C>G|||||||rs2283850||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29376402G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-9135C>G|||||||rs2283850||-1||HGNC|HGNC:554|2||||||||Ensembl||G|G||1||chr22:g.29376402G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+15205G>C|||||||rs2283850||1||||||||||||Ensembl||G|G||||chr22:g.29376402G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-9132C>G|||||||rs2283850||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29376402G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-9132C>G|||||||rs2283850||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29376402G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-9132C>G|||||||rs2283850||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29376402G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-9132C>G|||||||rs2283850||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29376402G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-9132C>G|||||||rs2283850||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29376402G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-9132C>G|||||||rs2283850||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29376402G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-9132C>G|||||||rs2283850||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29376402G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-9132C>G|||||||rs2283850||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29376402G>C|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.02|0.00|0.00|0.00|11|-44|11|22;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=93732;gnomADv4_1_AC_joint_XX=48036;gnomADv4_1_AC_joint_XY=45696;gnomADv4_1_AF_grpmax_joint=0.786803;gnomADv4_1_AF_joint=0.616861;gnomADv4_1_AF_joint_XX=0.618176;gnomADv4_1_AF_joint_XY=0.615484;gnomADv4_1_AN_grpmax_joint=41464;gnomADv4_1_AN_joint=151950;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74244;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=29954;gnomADv4_1_nhomalt_joint_XX=15394;gnomADv4_1_nhomalt_joint_XY=14560;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29376656 chr22_29376656_TG_T TG T 49 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.39;CADDIndel_Rawscore=-0.255551;CSQ=-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-9387del|||||||rs34602244||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29376658del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-9387del|||||||rs34602244||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29376658del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-9387del|||||||rs34602244||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29376658del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-9387del|||||||rs34602244||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29376658del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-9390del|||||||rs34602244||-1||HGNC|HGNC:554|2||||||||Ensembl||G|G||1||chr22:g.29376658del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+15461del|||||||rs34602244||1||||||||||||Ensembl||G|G|||1|chr22:g.29376658del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-9387del|||||||rs34602244||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29376658del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-9387del|||||||rs34602244||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29376658del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-9387del|||||||rs34602244||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29376658del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-9387del|||||||rs34602244||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29376658del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-9387del|||||||rs34602244||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29376658del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-9387del|||||||rs34602244||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29376658del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-9387del|||||||rs34602244||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29376658del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-9387del|||||||rs34602244||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29376658del|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.00|0.00|-41|1|7|-40;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53604;gnomADv4_1_AC_joint_XX=26952;gnomADv4_1_AC_joint_XY=26652;gnomADv4_1_AF_grpmax_joint=0.665627;gnomADv4_1_AF_joint=0.353826;gnomADv4_1_AF_joint_XX=0.347777;gnomADv4_1_AF_joint_XY=0.360162;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=151498;gnomADv4_1_AN_joint_XX=77498;gnomADv4_1_AN_joint_XY=74000;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10359;gnomADv4_1_nhomalt_joint_XX=5126;gnomADv4_1_nhomalt_joint_XY=5233;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29377111 chr22_29377111_G_A G A 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=8.573;CADD_Rawscore=0.830154;CSQ=A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-9841C>T|||||||rs2283851||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29377111G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-9841C>T|||||||rs2283851||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29377111G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-9841C>T|||||||rs2283851||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29377111G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-9841C>T|||||||rs2283851||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29377111G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-9844C>T|||||||rs2283851||-1||HGNC|HGNC:554|2||||||||Ensembl||G|G||1||chr22:g.29377111G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+15914G>A|||||||rs2283851||1||||||||||||Ensembl||G|G||||chr22:g.29377111G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-9841C>T|||||||rs2283851||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29377111G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-9841C>T|||||||rs2283851||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29377111G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-9841C>T|||||||rs2283851||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29377111G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-9841C>T|||||||rs2283851||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29377111G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-9841C>T|||||||rs2283851||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29377111G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-9841C>T|||||||rs2283851||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29377111G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-9841C>T|||||||rs2283851||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29377111G>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-9841C>T|||||||rs2283851||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29377111G>A|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|AP1B1|0.00|0.00|0.00|0.00|-17|7|8|-24;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17264;gnomADv4_1_AC_joint_XX=8124;gnomADv4_1_AC_joint_XY=9140;gnomADv4_1_AF_grpmax_joint=0.378357;gnomADv4_1_AF_joint=0.116272;gnomADv4_1_AF_joint_XX=0.106335;gnomADv4_1_AF_joint_XY=0.126804;gnomADv4_1_AN_grpmax_joint=4990;gnomADv4_1_AN_joint=148480;gnomADv4_1_AN_joint_XX=76400;gnomADv4_1_AN_joint_XY=72080;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1456;gnomADv4_1_nhomalt_joint_XX=620;gnomADv4_1_nhomalt_joint_XY=836;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29377195 chr22_29377195_CA_C CA C 28 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=28;CADDIndel_PHREDscore=1.016;CADDIndel_Rawscore=-0.013656;CSQ=-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-9926del|||||||rs34466410||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29377220del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-9926del|||||||rs34466410||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29377220del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-9926del|||||||rs34466410||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29377220del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-9926del|||||||rs34466410||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29377220del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-9929del|||||||rs34466410||-1||HGNC|HGNC:554|2||||||||Ensembl||A|A||1||chr22:g.29377220del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+16023del|||||||rs34466410||1||||||||||||Ensembl||A|A|||24|chr22:g.29377220del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-9926del|||||||rs34466410||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29377220del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-9926del|||||||rs34466410||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29377220del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-9926del|||||||rs34466410||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29377220del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-9926del|||||||rs34466410||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29377220del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-9926del|||||||rs34466410||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29377220del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-9926del|||||||rs34466410||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29377220del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-9926del|||||||rs34466410||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29377220del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-9926del|||||||rs34466410||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29377220del|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|36|-7|-45|3;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30356;gnomADv4_1_AC_joint_XX=16770;gnomADv4_1_AC_joint_XY=13586;gnomADv4_1_AF_grpmax_joint=0.574544;gnomADv4_1_AF_joint=0.462927;gnomADv4_1_AF_joint_XX=0.459452;gnomADv4_1_AF_joint_XY=0.46729;gnomADv4_1_AN_grpmax_joint=1972;gnomADv4_1_AN_joint=65574;gnomADv4_1_AN_joint_XX=36500;gnomADv4_1_AN_joint_XY=29074;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1760;gnomADv4_1_nhomalt_joint_XX=845;gnomADv4_1_nhomalt_joint_XY=915;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29377336 chr22_29377336_T_C T C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=6.983;CADD_Rawscore=0.656258;CSQ=C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-27-10066A>G|||||||rs6006113||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22:g.29377336T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-27-10066A>G|||||||rs6006113||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22:g.29377336T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-27-10066A>G|||||||rs6006113||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29377336T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-27-10066A>G|||||||rs6006113||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29377336T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.107-10069A>G|||||||rs6006113||-1||HGNC|HGNC:554|2||||||||Ensembl||T|T||1||chr22:g.29377336T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+16139T>C|||||||rs6006113||1||||||||||||Ensembl||T|T||||chr22:g.29377336T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-27-10066A>G|||||||rs6006113||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||T|T||||chr22:g.29377336T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-27-10066A>G|||||||rs6006113||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||T|T||||chr22:g.29377336T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-27-10066A>G|||||||rs6006113||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||T|T||||chr22:g.29377336T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-27-10066A>G|||||||rs6006113||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||T|T||||chr22:g.29377336T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-92-10066A>G|||||||rs6006113||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||T|T||||chr22:g.29377336T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-92-10066A>G|||||||rs6006113||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||T|T||||chr22:g.29377336T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-27-10066A>G|||||||rs6006113||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||T|T||||chr22:g.29377336T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-27-10066A>G|||||||rs6006113||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||T|T||||chr22:g.29377336T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FMSD|enhancer||||||||||rs6006113|||||||||||||||||||||chr22:g.29377336T>C|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|4|-43|-30|23;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3,ENSR22_9FMSD;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162,.;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53642;gnomADv4_1_AC_joint_XX=26973;gnomADv4_1_AC_joint_XY=26669;gnomADv4_1_AF_grpmax_joint=0.66499;gnomADv4_1_AF_joint=0.353215;gnomADv4_1_AF_joint_XX=0.347375;gnomADv4_1_AF_joint_XY=0.359324;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=151868;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74220;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10376;gnomADv4_1_nhomalt_joint_XX=5133;gnomADv4_1_nhomalt_joint_XY=5243;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29377880 chr22_29377880_A_G A G 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=3.231;CADD_Rawscore=0.296169;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+10544T>C|||||||rs5763178||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29377880A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+10544T>C|||||||rs5763178||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29377880A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+10544T>C|||||||rs5763178||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29377880A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+10544T>C|||||||rs5763178||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29377880A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+10544T>C|||||||rs5763178||-1||HGNC|HGNC:554|2||||||||Ensembl||A|A||1||chr22:g.29377880A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+16683A>G|||||||rs5763178||1||||||||||||Ensembl||A|A||||chr22:g.29377880A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+10544T>C|||||||rs5763178||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29377880A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+10544T>C|||||||rs5763178||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29377880A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+10544T>C|||||||rs5763178||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29377880A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+10544T>C|||||||rs5763178||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29377880A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+10544T>C|||||||rs5763178||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29377880A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+10544T>C|||||||rs5763178||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29377880A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+10544T>C|||||||rs5763178||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29377880A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+10544T>C|||||||rs5763178||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29377880A>G|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|8|18|-2|18;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=95648;gnomADv4_1_AC_joint_XX=49026;gnomADv4_1_AC_joint_XY=46622;gnomADv4_1_AF_grpmax_joint=0.83451;gnomADv4_1_AF_joint=0.63084;gnomADv4_1_AF_joint_XX=0.632332;gnomADv4_1_AF_joint_XY=0.629279;gnomADv4_1_AN_grpmax_joint=41368;gnomADv4_1_AN_joint=151620;gnomADv4_1_AN_joint_XX=77532;gnomADv4_1_AN_joint_XY=74088;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31577;gnomADv4_1_nhomalt_joint_XX=16229;gnomADv4_1_nhomalt_joint_XY=15348;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29378747 chr22_29378747_T_C T C 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.891;CADD_Rawscore=0.263896;CSQ=C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+9677A>G|||||||rs174771||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22:g.29378747T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+9677A>G|||||||rs174771||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22:g.29378747T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+9677A>G|||||||rs174771||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29378747T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+9677A>G|||||||rs174771||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29378747T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+9677A>G|||||||rs174771||-1||HGNC|HGNC:554|2||||||||Ensembl||T|T||1||chr22:g.29378747T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+17550T>C|||||||rs174771||1||||||||||||Ensembl||T|T||||chr22:g.29378747T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+9677A>G|||||||rs174771||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||T|T||||chr22:g.29378747T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+9677A>G|||||||rs174771||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||T|T||||chr22:g.29378747T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+9677A>G|||||||rs174771||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||T|T||||chr22:g.29378747T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+9677A>G|||||||rs174771||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||T|T||||chr22:g.29378747T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+9677A>G|||||||rs174771||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||T|T||||chr22:g.29378747T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+9677A>G|||||||rs174771||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||T|T||||chr22:g.29378747T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+9677A>G|||||||rs174771||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||T|T||||chr22:g.29378747T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+9677A>G|||||||rs174771||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||T|T||||chr22:g.29378747T>C|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|-27|-2|-27|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58005;gnomADv4_1_AC_joint_XX=29626;gnomADv4_1_AC_joint_XY=28379;gnomADv4_1_AF_grpmax_joint=0.528615;gnomADv4_1_AF_joint=0.387734;gnomADv4_1_AF_joint_XX=0.386319;gnomADv4_1_AF_joint_XY=0.389223;gnomADv4_1_AN_grpmax_joint=14992;gnomADv4_1_AN_joint=149600;gnomADv4_1_AN_joint_XX=76688;gnomADv4_1_AN_joint_XY=72912;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=12243;gnomADv4_1_nhomalt_joint_XX=6238;gnomADv4_1_nhomalt_joint_XY=6005;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29378860 chr22_29378860_CAA_C;chr22_29378860_CA_C CAA C 39 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=39;CADDIndel_PHREDscore=0.442;CADDIndel_Rawscore=-0.224285;CSQ=-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+9562_-28+9563del|||||||rs695434||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||AA|AA||1||chr22:g.29378879_29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+9562_-28+9563del|||||||rs695434||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||AA|AA||1||chr22:g.29378879_29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+9562_-28+9563del|||||||rs695434||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||AA|AA||1||chr22:g.29378879_29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+9562_-28+9563del|||||||rs695434||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||AA|AA||1||chr22:g.29378879_29378880del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+9562_106+9563del|||||||rs695434||-1||HGNC|HGNC:554|2||||||||Ensembl||AA|AA||1||chr22:g.29378879_29378880del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+17682_130+17683del|||||||rs695434||1||||||||||||Ensembl||AA|AA|||18|chr22:g.29378879_29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+9562_-28+9563del|||||||rs695434||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||AA|AA||||chr22:g.29378879_29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+9562_-28+9563del|||||||rs695434||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||AA|AA||||chr22:g.29378879_29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+9562_-28+9563del|||||||rs695434||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||AA|AA||||chr22:g.29378879_29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+9562_-28+9563del|||||||rs695434||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||AA|AA||||chr22:g.29378879_29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+9562_-93+9563del|||||||rs695434||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||AA|AA||||chr22:g.29378879_29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+9562_-93+9563del|||||||rs695434||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||AA|AA||||chr22:g.29378879_29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+9562_-28+9563del|||||||rs695434||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||AA|AA||||chr22:g.29378879_29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+9562_-28+9563del|||||||rs695434||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||AA|AA||||chr22:g.29378879_29378880del|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|-29|-11|3|1;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35905;gnomADv4_1_AC_joint_XX=18969;gnomADv4_1_AC_joint_XY=16936;gnomADv4_1_AF_grpmax_joint=0.604948;gnomADv4_1_AF_joint=0.324392;gnomADv4_1_AF_joint_XX=0.320585;gnomADv4_1_AF_joint_XY=0.328765;gnomADv4_1_AN_grpmax_joint=3678;gnomADv4_1_AN_joint=110684;gnomADv4_1_AN_joint_XX=59170;gnomADv4_1_AN_joint_XY=51514;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4505;gnomADv4_1_nhomalt_joint_XX=2314;gnomADv4_1_nhomalt_joint_XY=2191;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29378860 chr22_29378860_CAA_C;chr22_29378860_CA_C CA C 39 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=13;CADDIndel_PHREDscore=0.239;CADDIndel_Rawscore=-0.38079;CSQ=-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+9563del|||||||rs695434||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+9563del|||||||rs695434||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+9563del|||||||rs695434||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+9563del|||||||rs695434||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29378880del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+9563del|||||||rs695434||-1||HGNC|HGNC:554|2||||||||Ensembl||A|A||1||chr22:g.29378880del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+17683del|||||||rs695434||1||||||||||||Ensembl||A|A|||19|chr22:g.29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+9563del|||||||rs695434||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+9563del|||||||rs695434||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+9563del|||||||rs695434||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+9563del|||||||rs695434||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+9563del|||||||rs695434||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+9563del|||||||rs695434||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+9563del|||||||rs695434||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29378880del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+9563del|||||||rs695434||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29378880del|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|39|-11|41|1;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42502;gnomADv4_1_AC_joint_XX=22696;gnomADv4_1_AC_joint_XY=19806;gnomADv4_1_AF_grpmax_joint=0.515;gnomADv4_1_AF_joint=0.385457;gnomADv4_1_AF_joint_XX=0.384991;gnomADv4_1_AF_joint_XY=0.385992;gnomADv4_1_AN_grpmax_joint=200;gnomADv4_1_AN_joint=110264;gnomADv4_1_AN_joint_XX=58952;gnomADv4_1_AN_joint_XY=51312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7038;gnomADv4_1_nhomalt_joint_XX=3732;gnomADv4_1_nhomalt_joint_XY=3306;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29379034 chr22_29379034_C_A C A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=7.748;CADD_Rawscore=0.740646;CSQ=A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+9390G>T|||||||rs174772||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29379034C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+9390G>T|||||||rs174772||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29379034C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+9390G>T|||||||rs174772||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29379034C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+9390G>T|||||||rs174772||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29379034C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+9390G>T|||||||rs174772||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29379034C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+17837C>A|||||||rs174772||1||||||||||||Ensembl||C|C||||chr22:g.29379034C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+9390G>T|||||||rs174772||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29379034C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+9390G>T|||||||rs174772||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29379034C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+9390G>T|||||||rs174772||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29379034C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+9390G>T|||||||rs174772||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29379034C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+9390G>T|||||||rs174772||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29379034C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+9390G>T|||||||rs174772||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29379034C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+9390G>T|||||||rs174772||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29379034C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+9390G>T|||||||rs174772||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29379034C>A|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|AP1B1|0.00|0.00|0.00|0.00|-9|20|-2|-23;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=127005;gnomADv4_1_AC_joint_XX=64588;gnomADv4_1_AC_joint_XY=62417;gnomADv4_1_AF_grpmax_joint=0.966783;gnomADv4_1_AF_joint=0.835208;gnomADv4_1_AF_joint_XX=0.830885;gnomADv4_1_AF_joint_XY=0.839728;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=53292;gnomADv4_1_nhomalt_joint_XX=26915;gnomADv4_1_nhomalt_joint_XY=26377;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29379151 chr22_29379151_C_G C G 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.977;CADD_Rawscore=0.16092;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+9273G>C|||||||rs2348468||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29379151C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+9273G>C|||||||rs2348468||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29379151C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+9273G>C|||||||rs2348468||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29379151C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+9273G>C|||||||rs2348468||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29379151C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+9273G>C|||||||rs2348468||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29379151C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+17954C>G|||||||rs2348468||1||||||||||||Ensembl||C|C||||chr22:g.29379151C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+9273G>C|||||||rs2348468||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29379151C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+9273G>C|||||||rs2348468||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29379151C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+9273G>C|||||||rs2348468||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29379151C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+9273G>C|||||||rs2348468||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29379151C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+9273G>C|||||||rs2348468||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29379151C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+9273G>C|||||||rs2348468||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29379151C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+9273G>C|||||||rs2348468||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29379151C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+9273G>C|||||||rs2348468||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29379151C>G|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|37|43|34|-44;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53788;gnomADv4_1_AC_joint_XX=27034;gnomADv4_1_AC_joint_XY=26754;gnomADv4_1_AF_grpmax_joint=0.665184;gnomADv4_1_AF_joint=0.353896;gnomADv4_1_AF_joint_XX=0.348018;gnomADv4_1_AF_joint_XY=0.360042;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=151988;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10439;gnomADv4_1_nhomalt_joint_XX=5161;gnomADv4_1_nhomalt_joint_XY=5278;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29379629 chr22_29379629_G_T G T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.709;CADD_Rawscore=0.122377;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+8795C>A|||||||rs9613877||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29379629G>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+8795C>A|||||||rs9613877||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29379629G>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+8795C>A|||||||rs9613877||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29379629G>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+8795C>A|||||||rs9613877||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29379629G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+8795C>A|||||||rs9613877||-1||HGNC|HGNC:554|2||||||||Ensembl||G|G||1||chr22:g.29379629G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+18432G>T|||||||rs9613877||1||||||||||||Ensembl||G|G||||chr22:g.29379629G>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+8795C>A|||||||rs9613877||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29379629G>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+8795C>A|||||||rs9613877||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29379629G>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+8795C>A|||||||rs9613877||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29379629G>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+8795C>A|||||||rs9613877||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29379629G>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+8795C>A|||||||rs9613877||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29379629G>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+8795C>A|||||||rs9613877||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29379629G>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+8795C>A|||||||rs9613877||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29379629G>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+8795C>A|||||||rs9613877||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29379629G>T|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.01|0.00|43|-3|-25|3;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17580;gnomADv4_1_AC_joint_XX=8202;gnomADv4_1_AC_joint_XY=9378;gnomADv4_1_AF_grpmax_joint=0.375338;gnomADv4_1_AF_joint=0.115514;gnomADv4_1_AF_joint_XX=0.105435;gnomADv4_1_AF_joint_XY=0.126052;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152190;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1491;gnomADv4_1_nhomalt_joint_XX=627;gnomADv4_1_nhomalt_joint_XY=864;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29379808 chr22_29379808_C_T C T 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.682;CADD_Rawscore=-0.115374;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+8616G>A|||||||rs78068506||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29379808C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+8616G>A|||||||rs78068506||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29379808C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+8616G>A|||||||rs78068506||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29379808C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+8616G>A|||||||rs78068506||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29379808C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+8616G>A|||||||rs78068506||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29379808C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+18611C>T|||||||rs78068506||1||||||||||||Ensembl||C|C||||chr22:g.29379808C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+8616G>A|||||||rs78068506||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29379808C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+8616G>A|||||||rs78068506||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29379808C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+8616G>A|||||||rs78068506||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29379808C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+8616G>A|||||||rs78068506||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29379808C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+8616G>A|||||||rs78068506||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29379808C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+8616G>A|||||||rs78068506||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29379808C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+8616G>A|||||||rs78068506||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29379808C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+8616G>A|||||||rs78068506||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29379808C>T|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.00|0.00|-13|8|-2|14;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5468;gnomADv4_1_AC_joint_XX=2845;gnomADv4_1_AC_joint_XY=2623;gnomADv4_1_AF_grpmax_joint=0.0550344;gnomADv4_1_AF_joint=0.0359179;gnomADv4_1_AF_joint_XX=0.0365662;gnomADv4_1_AF_joint_XY=0.0352402;gnomADv4_1_AN_grpmax_joint=68012;gnomADv4_1_AN_joint=152236;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=159;gnomADv4_1_nhomalt_joint_XX=71;gnomADv4_1_nhomalt_joint_XY=88;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29380061 chr22_29380061_T_C T C 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=8.344;CADD_Rawscore=0.806247;CSQ=C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+8363A>G|||||||rs5763179||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22:g.29380061T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+8363A>G|||||||rs5763179||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22:g.29380061T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+8363A>G|||||||rs5763179||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29380061T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+8363A>G|||||||rs5763179||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29380061T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+8363A>G|||||||rs5763179||-1||HGNC|HGNC:554|2||||||||Ensembl||T|T||1||chr22:g.29380061T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+18864T>C|||||||rs5763179||1||||||||||||Ensembl||T|T||||chr22:g.29380061T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+8363A>G|||||||rs5763179||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||T|T||||chr22:g.29380061T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+8363A>G|||||||rs5763179||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||T|T||||chr22:g.29380061T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+8363A>G|||||||rs5763179||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||T|T||||chr22:g.29380061T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+8363A>G|||||||rs5763179||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||T|T||||chr22:g.29380061T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+8363A>G|||||||rs5763179||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||T|T||||chr22:g.29380061T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+8363A>G|||||||rs5763179||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||T|T||||chr22:g.29380061T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+8363A>G|||||||rs5763179||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||T|T||||chr22:g.29380061T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+8363A>G|||||||rs5763179||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||T|T||||chr22:g.29380061T>C|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.04|0.00|0.00|0.00|23|-33|23|-11;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53682;gnomADv4_1_AC_joint_XX=27006;gnomADv4_1_AC_joint_XY=26676;gnomADv4_1_AF_grpmax_joint=0.666083;gnomADv4_1_AF_joint=0.353241;gnomADv4_1_AF_joint_XX=0.347585;gnomADv4_1_AF_joint_XY=0.359157;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=151970;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10388;gnomADv4_1_nhomalt_joint_XX=5146;gnomADv4_1_nhomalt_joint_XY=5242;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29380334 chr22_29380334_C_G C G 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=3.576;CADD_Rawscore=0.327536;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+8090G>C|||||||rs5763180||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29380334C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+8090G>C|||||||rs5763180||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29380334C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+8090G>C|||||||rs5763180||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29380334C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+8090G>C|||||||rs5763180||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29380334C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+8090G>C|||||||rs5763180||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29380334C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+19137C>G|||||||rs5763180||1||||||||||||Ensembl||C|C||||chr22:g.29380334C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+8090G>C|||||||rs5763180||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29380334C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+8090G>C|||||||rs5763180||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29380334C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+8090G>C|||||||rs5763180||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29380334C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+8090G>C|||||||rs5763180||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29380334C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+8090G>C|||||||rs5763180||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29380334C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+8090G>C|||||||rs5763180||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29380334C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+8090G>C|||||||rs5763180||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29380334C>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+8090G>C|||||||rs5763180||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29380334C>G|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|-6|-1|-21|47;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23785;gnomADv4_1_AC_joint_XX=12363;gnomADv4_1_AC_joint_XY=11422;gnomADv4_1_AF_grpmax_joint=0.289105;gnomADv4_1_AF_joint=0.156429;gnomADv4_1_AF_joint_XX=0.159055;gnomADv4_1_AF_joint_XY=0.153683;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2042;gnomADv4_1_nhomalt_joint_XX=1052;gnomADv4_1_nhomalt_joint_XY=990;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29380414 chr22_29380414_CG_C CG C 49 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.051;CADDIndel_Rawscore=-0.793564;CSQ=-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+8009del|||||||rs35047068||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29380417del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+8009del|||||||rs35047068||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29380417del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+8009del|||||||rs35047068||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29380417del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+8009del|||||||rs35047068||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29380417del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+8009del|||||||rs35047068||-1||HGNC|HGNC:554|2||||||||Ensembl||G|G||1||chr22:g.29380417del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+19220del|||||||rs35047068||1||||||||||||Ensembl||G|G|||2|chr22:g.29380417del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+8009del|||||||rs35047068||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29380417del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+8009del|||||||rs35047068||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29380417del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+8009del|||||||rs35047068||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29380417del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+8009del|||||||rs35047068||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29380417del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+8009del|||||||rs35047068||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29380417del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+8009del|||||||rs35047068||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29380417del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+8009del|||||||rs35047068||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29380417del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+8009del|||||||rs35047068||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29380417del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FMTB|enhancer||||||||||rs35047068|||||||||||||||||||||chr22:g.29380417del|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|-44|42|31|-33;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3,ENSR22_9FMTB;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162,.;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=92391;gnomADv4_1_AC_joint_XX=47337;gnomADv4_1_AC_joint_XY=45054;gnomADv4_1_AF_grpmax_joint=0.769173;gnomADv4_1_AF_joint=0.609005;gnomADv4_1_AF_joint_XX=0.610186;gnomADv4_1_AF_joint_XY=0.60777;gnomADv4_1_AN_grpmax_joint=41308;gnomADv4_1_AN_joint=151708;gnomADv4_1_AN_joint_XX=77578;gnomADv4_1_AN_joint_XY=74130;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=29098;gnomADv4_1_nhomalt_joint_XX=14934;gnomADv4_1_nhomalt_joint_XY=14164;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29380868 chr22_29380868_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.528;CADD_Rawscore=-0.179463;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+7556G>A|||||||rs5763181||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29380868C>T|||1||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+7556G>A|||||||rs5763181||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29380868C>T|||1||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+7556G>A|||||||rs5763181||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29380868C>T|||1||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+7556G>A|||||||rs5763181||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29380868C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+7556G>A|||||||rs5763181||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29380868C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+19671C>T|||||||rs5763181||1||||||||||||Ensembl||C|C||||chr22:g.29380868C>T|||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+7556G>A|||||||rs5763181||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29380868C>T|||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+7556G>A|||||||rs5763181||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29380868C>T|||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+7556G>A|||||||rs5763181||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29380868C>T|||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+7556G>A|||||||rs5763181||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29380868C>T|||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+7556G>A|||||||rs5763181||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29380868C>T|||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+7556G>A|||||||rs5763181||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29380868C>T|||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+7556G>A|||||||rs5763181||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29380868C>T|||1||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+7556G>A|||||||rs5763181||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29380868C>T|||1||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.00|0.00|-19|10|41|-44;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23783;gnomADv4_1_AC_joint_XX=12362;gnomADv4_1_AC_joint_XY=11421;gnomADv4_1_AF_grpmax_joint=0.289698;gnomADv4_1_AF_joint=0.156335;gnomADv4_1_AF_joint_XX=0.158989;gnomADv4_1_AF_joint_XY=0.153562;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152128;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2037;gnomADv4_1_nhomalt_joint_XX=1050;gnomADv4_1_nhomalt_joint_XY=987;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29381302 chr22_29381302_A_G A G 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.719;CADD_Rawscore=0.34029;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+7122T>C|||||||rs5752905||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29381302A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+7122T>C|||||||rs5752905||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29381302A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+7122T>C|||||||rs5752905||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29381302A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+7122T>C|||||||rs5752905||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29381302A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+7122T>C|||||||rs5752905||-1||HGNC|HGNC:554|2||||||||Ensembl||A|A||1||chr22:g.29381302A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+20105A>G|||||||rs5752905||1||||||||||||Ensembl||A|A||||chr22:g.29381302A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+7122T>C|||||||rs5752905||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29381302A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+7122T>C|||||||rs5752905||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29381302A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+7122T>C|||||||rs5752905||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29381302A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+7122T>C|||||||rs5752905||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29381302A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+7122T>C|||||||rs5752905||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29381302A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+7122T>C|||||||rs5752905||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29381302A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+7122T>C|||||||rs5752905||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29381302A>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+7122T>C|||||||rs5752905||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29381302A>G|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|45|50|15|-5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53697;gnomADv4_1_AC_joint_XX=27000;gnomADv4_1_AC_joint_XY=26697;gnomADv4_1_AF_grpmax_joint=0.665894;gnomADv4_1_AF_joint=0.353428;gnomADv4_1_AF_joint_XX=0.34758;gnomADv4_1_AF_joint_XY=0.359546;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=151932;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10397;gnomADv4_1_nhomalt_joint_XX=5144;gnomADv4_1_nhomalt_joint_XY=5253;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29381592 chr22_29381592_C_A C A 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.016;CADD_Rawscore=-1.11876;CSQ=A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+6832G>T|||||||rs5763182||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29381592C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+6832G>T|||||||rs5763182||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29381592C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+6832G>T|||||||rs5763182||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29381592C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+6832G>T|||||||rs5763182||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29381592C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+6832G>T|||||||rs5763182||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29381592C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+20395C>A|||||||rs5763182||1||||||||||||Ensembl||C|C||||chr22:g.29381592C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+6832G>T|||||||rs5763182||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29381592C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+6832G>T|||||||rs5763182||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29381592C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+6832G>T|||||||rs5763182||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29381592C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+6832G>T|||||||rs5763182||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29381592C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+6832G>T|||||||rs5763182||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29381592C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+6832G>T|||||||rs5763182||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29381592C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+6832G>T|||||||rs5763182||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29381592C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+6832G>T|||||||rs5763182||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29381592C>A|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|AP1B1|0.00|0.00|0.00|0.00|-6|-1|36|1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53729;gnomADv4_1_AC_joint_XX=27004;gnomADv4_1_AC_joint_XY=26725;gnomADv4_1_AF_grpmax_joint=0.665248;gnomADv4_1_AF_joint=0.35335;gnomADv4_1_AF_joint_XX=0.347533;gnomADv4_1_AF_joint_XY=0.359429;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10399;gnomADv4_1_nhomalt_joint_XX=5146;gnomADv4_1_nhomalt_joint_XY=5253;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29382081 chr22_29382081_T_C T C 54 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.551;CADD_Rawscore=-0.168946;CSQ=C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+6343A>G|||||||rs6006115||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22:g.29382081T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+6343A>G|||||||rs6006115||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22:g.29382081T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+6343A>G|||||||rs6006115||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29382081T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+6343A>G|||||||rs6006115||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29382081T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+6343A>G|||||||rs6006115||-1||HGNC|HGNC:554|2||||||||Ensembl||T|T||1||chr22:g.29382081T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+20884T>C|||||||rs6006115||1||||||||||||Ensembl||T|T||||chr22:g.29382081T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+6343A>G|||||||rs6006115||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||T|T||||chr22:g.29382081T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+6343A>G|||||||rs6006115||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||T|T||||chr22:g.29382081T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+6343A>G|||||||rs6006115||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||T|T||||chr22:g.29382081T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+6343A>G|||||||rs6006115||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||T|T||||chr22:g.29382081T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+6343A>G|||||||rs6006115||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||T|T||||chr22:g.29382081T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+6343A>G|||||||rs6006115||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||T|T||||chr22:g.29382081T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+6343A>G|||||||rs6006115||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||T|T||||chr22:g.29382081T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+6343A>G|||||||rs6006115||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||T|T||||chr22:g.29382081T>C|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|-46|-12|-46|21;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56520;gnomADv4_1_AC_joint_XX=28408;gnomADv4_1_AC_joint_XY=28112;gnomADv4_1_AF_grpmax_joint=0.674806;gnomADv4_1_AF_joint=0.372499;gnomADv4_1_AF_joint_XX=0.366064;gnomADv4_1_AF_joint_XY=0.379236;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151732;gnomADv4_1_AN_joint_XX=77604;gnomADv4_1_AN_joint_XY=74128;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11443;gnomADv4_1_nhomalt_joint_XX=5657;gnomADv4_1_nhomalt_joint_XY=5786;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29382463 chr22_29382463_G_C G C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.331;CADD_Rawscore=0.204753;CSQ=C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+5961C>G|||||||rs174773||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29382463G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+5961C>G|||||||rs174773||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29382463G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+5961C>G|||||||rs174773||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29382463G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+5961C>G|||||||rs174773||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29382463G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+5961C>G|||||||rs174773||-1||HGNC|HGNC:554|2||||||||Ensembl||G|G||1||chr22:g.29382463G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+21266G>C|||||||rs174773||1||||||||||||Ensembl||G|G||||chr22:g.29382463G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+5961C>G|||||||rs174773||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29382463G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+5961C>G|||||||rs174773||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29382463G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+5961C>G|||||||rs174773||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29382463G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+5961C>G|||||||rs174773||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29382463G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+5961C>G|||||||rs174773||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29382463G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+5961C>G|||||||rs174773||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29382463G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+5961C>G|||||||rs174773||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29382463G>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+5961C>G|||||||rs174773||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29382463G>C|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|46|-20|-30|-9;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=145767;gnomADv4_1_AC_joint_XX=74616;gnomADv4_1_AC_joint_XY=71151;gnomADv4_1_AF_grpmax_joint=0.999036;gnomADv4_1_AF_joint=0.957079;gnomADv4_1_AF_joint_XX=0.958557;gnomADv4_1_AF_joint_XY=0.955534;gnomADv4_1_AN_grpmax_joint=5188;gnomADv4_1_AN_joint=152304;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=69803;gnomADv4_1_nhomalt_joint_XX=35781;gnomADv4_1_nhomalt_joint_XY=34022;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29382730 chr22_29382730_C_A C A 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.259;CADD_Rawscore=-0.359822;CSQ=A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+5694G>T|||||||rs5763184||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29382730C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+5694G>T|||||||rs5763184||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29382730C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+5694G>T|||||||rs5763184||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29382730C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+5694G>T|||||||rs5763184||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29382730C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+5694G>T|||||||rs5763184||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29382730C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+21533C>A|||||||rs5763184||1||||||||||||Ensembl||C|C||||chr22:g.29382730C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+5694G>T|||||||rs5763184||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29382730C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+5694G>T|||||||rs5763184||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29382730C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+5694G>T|||||||rs5763184||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29382730C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+5694G>T|||||||rs5763184||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29382730C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+5694G>T|||||||rs5763184||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29382730C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+5694G>T|||||||rs5763184||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29382730C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+5694G>T|||||||rs5763184||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29382730C>A|||||||||||||,A|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+5694G>T|||||||rs5763184||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29382730C>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8TBQX|enhancer||||||||||rs5763184|||||||||||||||||||||chr22:g.29382730C>A|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|AP1B1|0.00|0.00|0.00|0.00|-19|33|25|-14;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_145730.3,ENSR22_8TBQX;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,162,162,162,162,162,162,162,162,.;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53593;gnomADv4_1_AC_joint_XX=26958;gnomADv4_1_AC_joint_XY=26635;gnomADv4_1_AF_grpmax_joint=0.665045;gnomADv4_1_AF_joint=0.353008;gnomADv4_1_AF_joint_XX=0.347227;gnomADv4_1_AF_joint_XY=0.359059;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=151818;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=74180;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10363;gnomADv4_1_nhomalt_joint_XX=5133;gnomADv4_1_nhomalt_joint_XY=5230;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29383448 chr22_29383448_C_T C T 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.331;CADD_Rawscore=-0.296862;CSQ=T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+4976G>A|||||||rs9613878||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29383448C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+4976G>A|||||||rs9613878||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29383448C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+4976G>A|||||||rs9613878||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29383448C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+4976G>A|||||||rs9613878||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29383448C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+4976G>A|||||||rs9613878||-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29383448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs9613878|4461|1||||||||||||Ensembl||C|C||||chr22:g.29383448C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+22251C>T|||||||rs9613878||1||||||||||||Ensembl||C|C||||chr22:g.29383448C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+4976G>A|||||||rs9613878||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29383448C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+4976G>A|||||||rs9613878||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29383448C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+4976G>A|||||||rs9613878||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29383448C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+4976G>A|||||||rs9613878||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29383448C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+4976G>A|||||||rs9613878||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29383448C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+4976G>A|||||||rs9613878||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29383448C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+4976G>A|||||||rs9613878||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29383448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||||||||||rs9613878|4461|1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29383448C>T|||||||||||||,T|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+4976G>A|||||||rs9613878||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29383448C>T|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|AP1B1|0.00|0.00|0.00|0.00|3|26|3|-22;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000650462,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_001393612.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,ENSG00000290778,162,162,162,162,162,162,162,5988,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RFPL1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46256;gnomADv4_1_AC_joint_XX=23124;gnomADv4_1_AC_joint_XY=23132;gnomADv4_1_AF_grpmax_joint=0.665244;gnomADv4_1_AF_joint=0.304488;gnomADv4_1_AF_joint_XX=0.297591;gnomADv4_1_AF_joint_XY=0.31171;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151914;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74210;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7570;gnomADv4_1_nhomalt_joint_XX=3682;gnomADv4_1_nhomalt_joint_XY=3888;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29383690 chr22_29383690_CA_C CA C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=47;CADDIndel_PHREDscore=0.104;CADDIndel_Rawscore=-0.600202;CSQ=-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+4733del|||||||rs35180572||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29383710del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+4733del|||||||rs35180572||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29383710del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+4733del|||||||rs35180572||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29383710del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+4733del|||||||rs35180572||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29383710del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+4733del|||||||rs35180572||-1||HGNC|HGNC:554|2||||||||Ensembl||A|A||1||chr22:g.29383710del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs35180572|4218|1||||||||||||Ensembl||A|A||||chr22:g.29383710del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+22513del|||||||rs35180572||1||||||||||||Ensembl||A|A|||19|chr22:g.29383710del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+4733del|||||||rs35180572||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29383710del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+4733del|||||||rs35180572||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29383710del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+4733del|||||||rs35180572||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29383710del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+4733del|||||||rs35180572||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29383710del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+4733del|||||||rs35180572||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29383710del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+4733del|||||||rs35180572||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29383710del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+4733del|||||||rs35180572||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29383710del|||||||||||||,-|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||||||||||rs35180572|4218|1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29383710del|||||||||||||,-|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+4733del|||||||rs35180572||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29383710del|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|3|-3|4|49;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000650462,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_001393612.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,ENSG00000290778,162,162,162,162,162,162,162,5988,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RFPL1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=51347;gnomADv4_1_AC_joint_XX=27658;gnomADv4_1_AC_joint_XY=23689;gnomADv4_1_AF_grpmax_joint=0.694542;gnomADv4_1_AF_joint=0.571844;gnomADv4_1_AF_joint_XX=0.573556;gnomADv4_1_AF_joint_XY=0.569858;gnomADv4_1_AN_grpmax_joint=22242;gnomADv4_1_AN_joint=89792;gnomADv4_1_AN_joint_XX=48222;gnomADv4_1_AN_joint_XY=41570;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11966;gnomADv4_1_nhomalt_joint_XX=6464;gnomADv4_1_nhomalt_joint_XY=5502;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29383895 chr22_29383895_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=4.026;CADD_Rawscore=0.367566;CSQ=C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+4529A>G|||||||rs174774||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22:g.29383895T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+4529A>G|||||||rs174774||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22:g.29383895T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+4529A>G|||||||rs174774||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29383895T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+4529A>G|||||||rs174774||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29383895T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+4529A>G|||||||rs174774||-1||HGNC|HGNC:554|2||||||||Ensembl||T|T||1||chr22:g.29383895T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs174774|4014|1||||||||||||Ensembl||T|T||||chr22:g.29383895T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+22698T>C|||||||rs174774||1||||||||||||Ensembl||T|T||||chr22:g.29383895T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+4529A>G|||||||rs174774||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||T|T||||chr22:g.29383895T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+4529A>G|||||||rs174774||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||T|T||||chr22:g.29383895T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+4529A>G|||||||rs174774||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||T|T||||chr22:g.29383895T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+4529A>G|||||||rs174774||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||T|T||||chr22:g.29383895T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+4529A>G|||||||rs174774||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||T|T||||chr22:g.29383895T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+4529A>G|||||||rs174774||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||T|T||||chr22:g.29383895T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+4529A>G|||||||rs174774||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||T|T||||chr22:g.29383895T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||||||||||rs174774|4014|1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29383895T>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+4529A>G|||||||rs174774||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||T|T||||chr22:g.29383895T>C|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|-1|-2|-21|46;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000650462,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_001393612.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,ENSG00000290778,162,162,162,162,162,162,162,5988,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RFPL1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=145637;gnomADv4_1_AC_joint_XX=74547;gnomADv4_1_AC_joint_XY=71090;gnomADv4_1_AF_grpmax_joint=0.999226;gnomADv4_1_AF_joint=0.956967;gnomADv4_1_AF_joint_XX=0.958409;gnomADv4_1_AF_joint_XY=0.955459;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152186;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=69732;gnomADv4_1_nhomalt_joint_XX=35742;gnomADv4_1_nhomalt_joint_XY=33990;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29385456 chr22_29385456_T_G T G 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.066;CADD_Rawscore=0.172543;CSQ=G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+2968A>C|||||||rs2283852||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22:g.29385456T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+2968A>C|||||||rs2283852||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22:g.29385456T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+2968A>C|||||||rs2283852||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29385456T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+2968A>C|||||||rs2283852||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29385456T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+2968A>C|||||||rs2283852||-1||HGNC|HGNC:554|2||||||||Ensembl||T|T||1||chr22:g.29385456T>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs2283852|2453|1||||||||||||Ensembl||T|T||||chr22:g.29385456T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+24259T>G|||||||rs2283852||1||||||||||||Ensembl||T|T||||chr22:g.29385456T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+2968A>C|||||||rs2283852||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||T|T||||chr22:g.29385456T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+2968A>C|||||||rs2283852||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||T|T||||chr22:g.29385456T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+2968A>C|||||||rs2283852||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||T|T||||chr22:g.29385456T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+2968A>C|||||||rs2283852||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||T|T||||chr22:g.29385456T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+2968A>C|||||||rs2283852||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||T|T||||chr22:g.29385456T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+2968A>C|||||||rs2283852||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||T|T||||chr22:g.29385456T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+2968A>C|||||||rs2283852||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||T|T||||chr22:g.29385456T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||||||||||rs2283852|2453|1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29385456T>G|||||||||||||,G|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+2968A>C|||||||rs2283852||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||T|T||||chr22:g.29385456T>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4WPP|enhancer||||||||||rs2283852|||||||||||||||||||||chr22:g.29385456T>G|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|AP1B1|0.00|0.00|0.00|0.00|-13|-29|-13|-43;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000650462,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_001393612.1,NM_145730.3,ENSR22_C4WPP;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,ENSG00000290778,162,162,162,162,162,162,162,5988,162,.;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RFPL1,AP1B1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53746;gnomADv4_1_AC_joint_XX=27034;gnomADv4_1_AC_joint_XY=26712;gnomADv4_1_AF_grpmax_joint=0.666279;gnomADv4_1_AF_joint=0.354282;gnomADv4_1_AF_joint_XX=0.348385;gnomADv4_1_AF_joint_XY=0.360457;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151704;gnomADv4_1_AN_joint_XX=77598;gnomADv4_1_AN_joint_XY=74106;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10413;gnomADv4_1_nhomalt_joint_XX=5155;gnomADv4_1_nhomalt_joint_XY=5258;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29386444 chr22_29386444_A_C A C 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=4.801;CADD_Rawscore=0.437367;CSQ=C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||1/20|ENST00000317368.11:c.-28+1980T>G|||||||rs715494||-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29386444A>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||1/22|ENST00000357586.7:c.-28+1980T>G|||||||rs715494||-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29386444A>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||1/20|ENST00000405198.6:c.-28+1980T>G|||||||rs715494||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29386444A>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||1/20|ENST00000432560.6:c.-28+1980T>G|||||||rs715494||-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29386444A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||1/3|ENST00000473606.1:n.106+1980T>G|||||||rs715494||-1||HGNC|HGNC:554|2||||||||Ensembl||A|A||1||chr22:g.29386444A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs715494|1465|1||||||||||||Ensembl||A|A||||chr22:g.29386444A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+25247A>C|||||||rs715494||1||||||||||||Ensembl||A|A||||chr22:g.29386444A>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||1/22|NM_001127.4:c.-28+1980T>G|||||||rs715494||-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29386444A>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||1/20|NM_001166019.2:c.-28+1980T>G|||||||rs715494||-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29386444A>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||1/21|NM_001378562.1:c.-28+1980T>G|||||||rs715494||-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29386444A>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||1/21|NM_001378563.1:c.-28+1980T>G|||||||rs715494||-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29386444A>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||1/20|NM_001378564.1:c.-93+1980T>G|||||||rs715494||-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29386444A>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||1/20|NM_001378565.1:c.-93+1980T>G|||||||rs715494||-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29386444A>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||1/20|NM_001378566.1:c.-28+1980T>G|||||||rs715494||-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29386444A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||||||||||rs715494|1465|1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29386444A>C|||||||||||||,C|intron_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||1/20|NM_145730.3:c.-28+1980T>G|||||||rs715494||-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29386444A>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4WPP|enhancer||||||||||rs715494|||||||||||||||||||||chr22:g.29386444A>C|||||||||||||;DecipherG2P_allelic_requirement=biallelic_autosomal;DecipherG2P_confidence_category=limited;DecipherG2P_confidence_value_flag=Requires_clinical_review;DecipherG2P_disease_name=MEDNIK-like_Syndrome;DecipherG2P_gene_disease_pair_entry_date=2019-11-21_12:40:48;DecipherG2P_gene_symbol=AP1B1;DecipherG2P_hgnc_id=554;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=31630788|31630791;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|AP1B1|0.00|0.00|0.00|0.00|18|-7|-9|-5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000650462,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_001393612.1,NM_145730.3,ENSR22_C4WPP;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,ENSG00000290778,162,162,162,162,162,162,162,5988,162,.;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RFPL1,AP1B1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=95908;gnomADv4_1_AC_joint_XX=49139;gnomADv4_1_AC_joint_XY=46769;gnomADv4_1_AF_grpmax_joint=0.834482;gnomADv4_1_AF_joint=0.630799;gnomADv4_1_AF_joint_XX=0.632289;gnomADv4_1_AF_joint_XY=0.629241;gnomADv4_1_AN_grpmax_joint=41482;gnomADv4_1_AN_joint=152042;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31660;gnomADv4_1_nhomalt_joint_XX=16265;gnomADv4_1_nhomalt_joint_XY=15395;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29388797 chr22_29388797_G_C G C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=6.922;CADD_Rawscore=0.649631;CSQ=C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||||||||||rs5752906|214|-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29388797G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||||||||||rs5752906|227|-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29388797G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||||||||||rs5752906|214|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29388797G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||||||||||rs5752906|214|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29388797G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||||||||||rs5752906|268|-1||HGNC|HGNC:554|2||||||||Ensembl||G|G||1||chr22:g.29388797G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+701G>C|||||||rs5752906||1||||||||||||Ensembl||G|G||||chr22:g.29388797G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+27600G>C|||||||rs5752906||1||||||||||||Ensembl||G|G||||chr22:g.29388797G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||||||||||rs5752906|227|-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29388797G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||||||||||rs5752906|227|-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29388797G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||||||||||rs5752906|227|-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29388797G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||||||||||rs5752906|227|-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29388797G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||||||||||rs5752906|227|-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29388797G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||||||||||rs5752906|227|-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29388797G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||||||||||rs5752906|227|-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29388797G>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+701G>C|||||||rs5752906||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29388797G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||||||||||rs5752906|227|-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29388797G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7SGT|promoter||||||||||rs5752906|||||||||||||||||||||chr22:g.29388797G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000650462,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_001393612.1,NM_145730.3,ENSR22_B7SGT;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,ENSG00000290778,162,162,162,162,162,162,162,5988,162,.;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RFPL1,AP1B1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60355;gnomADv4_1_AC_joint_XX=30462;gnomADv4_1_AC_joint_XY=29893;gnomADv4_1_AF_grpmax_joint=0.674738;gnomADv4_1_AF_joint=0.396686;gnomADv4_1_AF_joint_XX=0.391734;gnomADv4_1_AF_joint_XY=0.401863;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152148;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13348;gnomADv4_1_nhomalt_joint_XX=6692;gnomADv4_1_nhomalt_joint_XY=6656;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29389603 chr22_29389603_G_A G A 59 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.621;CADD_Rawscore=0.108573;CSQ=A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||||||||||rs2283853|1020|-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29389603G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||||||||||rs2283853|1033|-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29389603G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||||||||||rs2283853|1020|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29389603G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||||||||||rs2283853|1020|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29389603G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||||||||||rs2283853|1074|-1||HGNC|HGNC:554|2||||||||Ensembl||G|G||1||chr22:g.29389603G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+1507G>A|||||||rs2283853||1||||||||||||Ensembl||G|G||||chr22:g.29389603G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+28406G>A|||||||rs2283853||1||||||||||||Ensembl||G|G||||chr22:g.29389603G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||||||||||rs2283853|1033|-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29389603G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||||||||||rs2283853|1033|-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29389603G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||||||||||rs2283853|1033|-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29389603G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||||||||||rs2283853|1033|-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29389603G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||||||||||rs2283853|1033|-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29389603G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||||||||||rs2283853|1033|-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29389603G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||||||||||rs2283853|1033|-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29389603G>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+1507G>A|||||||rs2283853||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29389603G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||||||||||rs2283853|1033|-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29389603G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000650462,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_001393612.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,ENSG00000290778,162,162,162,162,162,162,162,5988,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RFPL1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43973;gnomADv4_1_AC_joint_XX=22169;gnomADv4_1_AC_joint_XY=21804;gnomADv4_1_AF_grpmax_joint=0.670721;gnomADv4_1_AF_joint=0.305925;gnomADv4_1_AF_joint_XX=0.299759;gnomADv4_1_AF_joint_XY=0.312459;gnomADv4_1_AN_grpmax_joint=4604;gnomADv4_1_AN_joint=143738;gnomADv4_1_AN_joint_XX=73956;gnomADv4_1_AN_joint_XY=69782;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7112;gnomADv4_1_nhomalt_joint_XX=3502;gnomADv4_1_nhomalt_joint_XY=3610;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29389794 chr22_29389794_G_GT G GT 49 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=2.131;CADDIndel_Rawscore=0.180811;CSQ=T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||||||||||rs150059639|1211|-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl|||||1||chr22:g.29389803dup|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||||||||||rs150059639|1224|-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl|||||1||chr22:g.29389803dup|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||||||||||rs150059639|1211|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29389803dup|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||||||||||rs150059639|1211|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29389803dup|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||||||||||rs150059639|1265|-1||HGNC|HGNC:554|2||||||||Ensembl|||||1||chr22:g.29389803dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+1707dup|||||||rs150059639||1||||||||||||Ensembl||||||9|chr22:g.29389803dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+28606dup|||||||rs150059639||1||||||||||||Ensembl||||||9|chr22:g.29389803dup|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||||||||||rs150059639|1224|-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq|||||||chr22:g.29389803dup|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||||||||||rs150059639|1224|-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq|||||||chr22:g.29389803dup|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||||||||||rs150059639|1224|-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq|||||||chr22:g.29389803dup|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||||||||||rs150059639|1224|-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq|||||||chr22:g.29389803dup|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||||||||||rs150059639|1224|-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq|||||||chr22:g.29389803dup|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||||||||||rs150059639|1224|-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq|||||||chr22:g.29389803dup|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||||||||||rs150059639|1224|-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq|||||||chr22:g.29389803dup|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+1707dup|||||||rs150059639||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||9|chr22:g.29389803dup|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||||||||||rs150059639|1224|-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq|||||||chr22:g.29389803dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000650462,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_001393612.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,ENSG00000290778,162,162,162,162,162,162,162,5988,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RFPL1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45768;gnomADv4_1_AC_joint_XX=22962;gnomADv4_1_AC_joint_XY=22806;gnomADv4_1_AF_grpmax_joint=0.656593;gnomADv4_1_AF_joint=0.304795;gnomADv4_1_AF_joint_XX=0.298402;gnomADv4_1_AF_joint_XY=0.311515;gnomADv4_1_AN_grpmax_joint=5096;gnomADv4_1_AN_joint=150160;gnomADv4_1_AN_joint_XX=76950;gnomADv4_1_AN_joint_XY=73210;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7382;gnomADv4_1_nhomalt_joint_XX=3606;gnomADv4_1_nhomalt_joint_XY=3776;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29389929 chr22_29389929_A_G A G 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.944;CADD_Rawscore=0.15641;CSQ=G|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||||||||||rs2283854|1346|-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||A|A||1||chr22:g.29389929A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||||||||||rs2283854|1359|-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||A|A||1||chr22:g.29389929A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||||||||||rs2283854|1346|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29389929A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||||||||||rs2283854|1346|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||A|A||1||chr22:g.29389929A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||||||||||rs2283854|1400|-1||HGNC|HGNC:554|2||||||||Ensembl||A|A||1||chr22:g.29389929A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+1833A>G|||||||rs2283854||1||||||||||||Ensembl||A|A||||chr22:g.29389929A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+28732A>G|||||||rs2283854||1||||||||||||Ensembl||A|A||||chr22:g.29389929A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||||||||||rs2283854|1359|-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||A|A||||chr22:g.29389929A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||||||||||rs2283854|1359|-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||A|A||||chr22:g.29389929A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||||||||||rs2283854|1359|-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||A|A||||chr22:g.29389929A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||||||||||rs2283854|1359|-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||A|A||||chr22:g.29389929A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||||||||||rs2283854|1359|-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||A|A||||chr22:g.29389929A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||||||||||rs2283854|1359|-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||A|A||||chr22:g.29389929A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||||||||||rs2283854|1359|-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||A|A||||chr22:g.29389929A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+1833A>G|||||||rs2283854||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29389929A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||||||||||rs2283854|1359|-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||A|A||||chr22:g.29389929A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000650462,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_001393612.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,ENSG00000290778,162,162,162,162,162,162,162,5988,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RFPL1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53486;gnomADv4_1_AC_joint_XX=26952;gnomADv4_1_AC_joint_XY=26534;gnomADv4_1_AF_grpmax_joint=0.664554;gnomADv4_1_AF_joint=0.3535;gnomADv4_1_AF_joint_XX=0.348127;gnomADv4_1_AF_joint_XY=0.359131;gnomADv4_1_AN_grpmax_joint=5050;gnomADv4_1_AN_joint=151304;gnomADv4_1_AN_joint_XX=77420;gnomADv4_1_AN_joint_XY=73884;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10345;gnomADv4_1_nhomalt_joint_XX=5139;gnomADv4_1_nhomalt_joint_XY=5206;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29390377 chr22_29390377_G_T G T 58 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.481;CADD_Rawscore=-0.20284;CSQ=T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||||||||||rs5763189|1794|-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||G|G||1||chr22:g.29390377G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||||||||||rs5763189|1807|-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||G|G||1||chr22:g.29390377G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||||||||||rs5763189|1794|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29390377G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||||||||||rs5763189|1794|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||G|G||1||chr22:g.29390377G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||||||||||rs5763189|1848|-1||HGNC|HGNC:554|2||||||||Ensembl||G|G||1||chr22:g.29390377G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+2281G>T|||||||rs5763189||1||||||||||||Ensembl||G|G||||chr22:g.29390377G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+29180G>T|||||||rs5763189||1||||||||||||Ensembl||G|G||||chr22:g.29390377G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||||||||||rs5763189|1807|-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||G|G||||chr22:g.29390377G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||||||||||rs5763189|1807|-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||G|G||||chr22:g.29390377G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||||||||||rs5763189|1807|-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||G|G||||chr22:g.29390377G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||||||||||rs5763189|1807|-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||G|G||||chr22:g.29390377G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||||||||||rs5763189|1807|-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||G|G||||chr22:g.29390377G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||||||||||rs5763189|1807|-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||G|G||||chr22:g.29390377G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||||||||||rs5763189|1807|-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||G|G||||chr22:g.29390377G>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+2281G>T|||||||rs5763189||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29390377G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||||||||||rs5763189|1807|-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||G|G||||chr22:g.29390377G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000650462,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_001393612.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,ENSG00000290778,162,162,162,162,162,162,162,5988,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RFPL1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56573;gnomADv4_1_AC_joint_XX=28400;gnomADv4_1_AC_joint_XY=28173;gnomADv4_1_AF_grpmax_joint=0.67712;gnomADv4_1_AF_joint=0.372883;gnomADv4_1_AF_joint_XX=0.366244;gnomADv4_1_AF_joint_XY=0.379823;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151718;gnomADv4_1_AN_joint_XX=77544;gnomADv4_1_AN_joint_XY=74174;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11456;gnomADv4_1_nhomalt_joint_XX=5656;gnomADv4_1_nhomalt_joint_XY=5800;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29390508 chr22_29390508_C_T C T 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.072;CADD_Rawscore=0.000298;CSQ=T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||||||||||rs5763190|1925|-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||C|C||1||chr22:g.29390508C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||||||||||rs5763190|1938|-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||C|C||1||chr22:g.29390508C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||||||||||rs5763190|1925|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29390508C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||||||||||rs5763190|1925|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||C|C||1||chr22:g.29390508C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||||||||||rs5763190|1979|-1||HGNC|HGNC:554|2||||||||Ensembl||C|C||1||chr22:g.29390508C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+2412C>T|||||||rs5763190||1||||||||||||Ensembl||C|C||||chr22:g.29390508C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+29311C>T|||||||rs5763190||1||||||||||||Ensembl||C|C||||chr22:g.29390508C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||||||||||rs5763190|1938|-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||C|C||||chr22:g.29390508C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||||||||||rs5763190|1938|-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||C|C||||chr22:g.29390508C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||||||||||rs5763190|1938|-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||C|C||||chr22:g.29390508C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||||||||||rs5763190|1938|-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||C|C||||chr22:g.29390508C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||||||||||rs5763190|1938|-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||C|C||||chr22:g.29390508C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||||||||||rs5763190|1938|-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||C|C||||chr22:g.29390508C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||||||||||rs5763190|1938|-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||C|C||||chr22:g.29390508C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+2412C>T|||||||rs5763190||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29390508C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||||||||||rs5763190|1938|-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||C|C||||chr22:g.29390508C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000650462,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_001393612.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,ENSG00000290778,162,162,162,162,162,162,162,5988,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RFPL1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60186;gnomADv4_1_AC_joint_XX=30387;gnomADv4_1_AC_joint_XY=29799;gnomADv4_1_AF_grpmax_joint=0.675252;gnomADv4_1_AF_joint=0.39631;gnomADv4_1_AF_joint_XX=0.391343;gnomADv4_1_AF_joint_XY=0.401506;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=151866;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13302;gnomADv4_1_nhomalt_joint_XX=6665;gnomADv4_1_nhomalt_joint_XY=6637;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29390582 chr22_29390582_T_TTTTA;chr22_29390582_T_TTTTATTTA T TTTTA 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=6.346;CADDIndel_Rawscore=0.588643;CSQ=TTTA|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||||||||||rs36102459|1999|-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl|||||1||chr22:g.29390610_29390613dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||||||||||rs36102459|2012|-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl|||||1||chr22:g.29390610_29390613dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||||||||||rs36102459|1999|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29390610_29390613dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||||||||||rs36102459|1999|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29390610_29390613dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||||||||||rs36102459|2053|-1||HGNC|HGNC:554|2||||||||Ensembl|||||1||chr22:g.29390610_29390613dup|||||||||||||,TTTA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+2514_188+2517dup|||||||rs36102459||1||||||||||||Ensembl||||||31|chr22:g.29390610_29390613dup|||||||||||||,TTTA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+29413_130+29416dup|||||||rs36102459||1||||||||||||Ensembl||||||31|chr22:g.29390610_29390613dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||||||||||rs36102459|2012|-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq|||||||chr22:g.29390610_29390613dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||||||||||rs36102459|2012|-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq|||||||chr22:g.29390610_29390613dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||||||||||rs36102459|2012|-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq|||||||chr22:g.29390610_29390613dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||||||||||rs36102459|2012|-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq|||||||chr22:g.29390610_29390613dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||||||||||rs36102459|2012|-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq|||||||chr22:g.29390610_29390613dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||||||||||rs36102459|2012|-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq|||||||chr22:g.29390610_29390613dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||||||||||rs36102459|2012|-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq|||||||chr22:g.29390610_29390613dup|||||||||||||,TTTA|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+2514_-1211+2517dup|||||||rs36102459||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||31|chr22:g.29390610_29390613dup|||||||||||||,TTTA|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||||||||||rs36102459|2012|-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq|||||||chr22:g.29390610_29390613dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000650462,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_001393612.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,ENSG00000290778,162,162,162,162,162,162,162,5988,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RFPL1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25217;gnomADv4_1_AC_joint_XX=12470;gnomADv4_1_AC_joint_XY=12747;gnomADv4_1_AF_grpmax_joint=0.364509;gnomADv4_1_AF_joint=0.17174;gnomADv4_1_AF_joint_XX=0.165253;gnomADv4_1_AF_joint_XY=0.178599;gnomADv4_1_AN_grpmax_joint=4790;gnomADv4_1_AN_joint=146832;gnomADv4_1_AN_joint_XX=75460;gnomADv4_1_AN_joint_XY=71372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2590;gnomADv4_1_nhomalt_joint_XX=1219;gnomADv4_1_nhomalt_joint_XY=1371;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29390582 chr22_29390582_T_TTTTA;chr22_29390582_T_TTTTATTTA T TTTTATTTA 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=6.178;CADDIndel_Rawscore=0.571326;CSQ=TTTATTTA|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||||||||||rs36102459|1999|-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl|||||1||chr22:g.29390606_29390613dup|||||||||||||,TTTATTTA|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||||||||||rs36102459|2012|-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl|||||1||chr22:g.29390606_29390613dup|||||||||||||,TTTATTTA|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||||||||||rs36102459|1999|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29390606_29390613dup|||||||||||||,TTTATTTA|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||||||||||rs36102459|1999|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl|||||1||chr22:g.29390606_29390613dup|||||||||||||,TTTATTTA|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||||||||||rs36102459|2053|-1||HGNC|HGNC:554|2||||||||Ensembl|||||1||chr22:g.29390606_29390613dup|||||||||||||,TTTATTTA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+2510_188+2517dup|||||||rs36102459||1||||||||||||Ensembl||||||31|chr22:g.29390606_29390613dup|||||||||||||,TTTATTTA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+29409_130+29416dup|||||||rs36102459||1||||||||||||Ensembl||||||31|chr22:g.29390606_29390613dup|||||||||||||,TTTATTTA|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||||||||||rs36102459|2012|-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq|||||||chr22:g.29390606_29390613dup|||||||||||||,TTTATTTA|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||||||||||rs36102459|2012|-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq|||||||chr22:g.29390606_29390613dup|||||||||||||,TTTATTTA|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||||||||||rs36102459|2012|-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq|||||||chr22:g.29390606_29390613dup|||||||||||||,TTTATTTA|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||||||||||rs36102459|2012|-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq|||||||chr22:g.29390606_29390613dup|||||||||||||,TTTATTTA|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||||||||||rs36102459|2012|-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq|||||||chr22:g.29390606_29390613dup|||||||||||||,TTTATTTA|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||||||||||rs36102459|2012|-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq|||||||chr22:g.29390606_29390613dup|||||||||||||,TTTATTTA|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||||||||||rs36102459|2012|-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq|||||||chr22:g.29390606_29390613dup|||||||||||||,TTTATTTA|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+2510_-1211+2517dup|||||||rs36102459||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||31|chr22:g.29390606_29390613dup|||||||||||||,TTTATTTA|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||||||||||rs36102459|2012|-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq|||||||chr22:g.29390606_29390613dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTATTTA,TTTATTTA,TTTATTTA,TTTATTTA,TTTATTTA,TTTATTTA,TTTATTTA,TTTATTTA,TTTATTTA,TTTATTTA,TTTATTTA,TTTATTTA,TTTATTTA,TTTATTTA,TTTATTTA,TTTATTTA;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000650462,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_001393612.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,ENSG00000290778,162,162,162,162,162,162,162,5988,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RFPL1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15890;gnomADv4_1_AC_joint_XX=8153;gnomADv4_1_AC_joint_XY=7737;gnomADv4_1_AF_grpmax_joint=0.291353;gnomADv4_1_AF_joint=0.108204;gnomADv4_1_AF_joint_XX=0.108058;gnomADv4_1_AF_joint_XY=0.108358;gnomADv4_1_AN_grpmax_joint=4788;gnomADv4_1_AN_joint=146852;gnomADv4_1_AN_joint_XX=75450;gnomADv4_1_AN_joint_XY=71402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1012;gnomADv4_1_nhomalt_joint_XX=486;gnomADv4_1_nhomalt_joint_XY=526;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29392378 chr22_29392378_CTTTTTT_C;chr22_29392378_CTTTTT_C CTTTTTT C 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=19;CADDIndel_PHREDscore=0.58;CADDIndel_Rawscore=-0.156052;CSQ=-|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||||||||||rs869307314|3796|-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||TTTTTT|TTTTTT||1||chr22:g.29392406_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||||||||||rs869307314|3809|-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||TTTTTT|TTTTTT||1||chr22:g.29392406_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||||||||||rs869307314|3796|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||TTTTTT|TTTTTT||1||chr22:g.29392406_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||||||||||rs869307314|3796|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||TTTTTT|TTTTTT||1||chr22:g.29392406_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||||||||||rs869307314|3850|-1||HGNC|HGNC:554|2||||||||Ensembl||TTTTTT|TTTTTT||1||chr22:g.29392406_29392411del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+4310_188+4315del|||||||rs869307314||1||||||||||||Ensembl||TTTTTT|TTTTTT|||27|chr22:g.29392406_29392411del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+31209_130+31214del|||||||rs869307314||1||||||||||||Ensembl||TTTTTT|TTTTTT|||27|chr22:g.29392406_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||||||||||rs869307314|3809|-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||TTTTTT|TTTTTT||||chr22:g.29392406_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||||||||||rs869307314|3809|-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||TTTTTT|TTTTTT||||chr22:g.29392406_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||||||||||rs869307314|3809|-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||TTTTTT|TTTTTT||||chr22:g.29392406_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||||||||||rs869307314|3809|-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||TTTTTT|TTTTTT||||chr22:g.29392406_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||||||||||rs869307314|3809|-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||TTTTTT|TTTTTT||||chr22:g.29392406_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||||||||||rs869307314|3809|-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||TTTTTT|TTTTTT||||chr22:g.29392406_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||||||||||rs869307314|3809|-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||TTTTTT|TTTTTT||||chr22:g.29392406_29392411del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+4310_-1211+4315del|||||||rs869307314||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||TTTTTT|TTTTTT|||27|chr22:g.29392406_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||||||||||rs869307314|3809|-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||TTTTTT|TTTTTT||||chr22:g.29392406_29392411del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000650462,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_001393612.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,ENSG00000290778,162,162,162,162,162,162,162,5988,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RFPL1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5027;gnomADv4_1_AC_joint_XX=2917;gnomADv4_1_AC_joint_XY=2110;gnomADv4_1_AF_grpmax_joint=0.164474;gnomADv4_1_AF_joint=0.111661;gnomADv4_1_AF_joint_XX=0.11682;gnomADv4_1_AF_joint_XY=0.105237;gnomADv4_1_AN_grpmax_joint=1064;gnomADv4_1_AN_joint=45020;gnomADv4_1_AN_joint_XX=24970;gnomADv4_1_AN_joint_XY=20050;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=119;gnomADv4_1_nhomalt_joint_XX=69;gnomADv4_1_nhomalt_joint_XY=50;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29392378 chr22_29392378_CTTTTTT_C;chr22_29392378_CTTTTT_C CTTTTT C 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=18;CADDIndel_PHREDscore=0.555;CADDIndel_Rawscore=-0.166895;CSQ=-|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||||||||||rs869307314|3796|-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||TTTTT|TTTTT||1||chr22:g.29392407_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||||||||||rs869307314|3809|-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||TTTTT|TTTTT||1||chr22:g.29392407_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||||||||||rs869307314|3796|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||TTTTT|TTTTT||1||chr22:g.29392407_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||||||||||rs869307314|3796|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||TTTTT|TTTTT||1||chr22:g.29392407_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||||||||||rs869307314|3850|-1||HGNC|HGNC:554|2||||||||Ensembl||TTTTT|TTTTT||1||chr22:g.29392407_29392411del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+4311_188+4315del|||||||rs869307314||1||||||||||||Ensembl||TTTTT|TTTTT|||28|chr22:g.29392407_29392411del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+31210_130+31214del|||||||rs869307314||1||||||||||||Ensembl||TTTTT|TTTTT|||28|chr22:g.29392407_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||||||||||rs869307314|3809|-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||TTTTT|TTTTT||||chr22:g.29392407_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||||||||||rs869307314|3809|-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||TTTTT|TTTTT||||chr22:g.29392407_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||||||||||rs869307314|3809|-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||TTTTT|TTTTT||||chr22:g.29392407_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||||||||||rs869307314|3809|-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||TTTTT|TTTTT||||chr22:g.29392407_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||||||||||rs869307314|3809|-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||TTTTT|TTTTT||||chr22:g.29392407_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||||||||||rs869307314|3809|-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||TTTTT|TTTTT||||chr22:g.29392407_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||||||||||rs869307314|3809|-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||TTTTT|TTTTT||||chr22:g.29392407_29392411del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+4311_-1211+4315del|||||||rs869307314||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||TTTTT|TTTTT|||28|chr22:g.29392407_29392411del|||||||||||||,-|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||||||||||rs869307314|3809|-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||TTTTT|TTTTT||||chr22:g.29392407_29392411del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000650462,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_001393612.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,ENSG00000290778,162,162,162,162,162,162,162,5988,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RFPL1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2305;gnomADv4_1_AC_joint_XX=1320;gnomADv4_1_AC_joint_XY=985;gnomADv4_1_AF_grpmax_joint=0.107276;gnomADv4_1_AF_joint=0.0506616;gnomADv4_1_AF_joint_XX=0.0521162;gnomADv4_1_AF_joint_XY=0.0488349;gnomADv4_1_AN_grpmax_joint=1072;gnomADv4_1_AN_joint=45498;gnomADv4_1_AN_joint_XX=25328;gnomADv4_1_AN_joint_XY=20170;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34;gnomADv4_1_nhomalt_joint_XX=22;gnomADv4_1_nhomalt_joint_XY=12;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29393032 chr22_29393032_T_C T C 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=7.75;CADD_Rawscore=0.740879;CSQ=C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000317368|protein_coding||||||||||rs5752907|4449|-1||HGNC|HGNC:554|1|CCDS54515.1|ENSP00000319361|Q10567.200||UPI000000DB6A|Q10567-4||Ensembl||T|T||1||chr22:g.29393032T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000357586|protein_coding||||||||||rs5752907|4462|-1||HGNC|HGNC:554|1|CCDS13855.1|ENSP00000350199|Q10567.200||UPI0000124FE1|Q10567-1||Ensembl||T|T||1||chr22:g.29393032T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000405198|protein_coding||||||||||rs5752907|4449|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000384194|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29393032T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000432560|protein_coding||||||||||rs5752907|4449|-1||HGNC|HGNC:554|5|CCDS13856.2|ENSP00000400065|Q10567.200||UPI00006E250D|Q10567-3||Ensembl||T|T||1||chr22:g.29393032T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|ENSG00000100280|Transcript|ENST00000473606|retained_intron||||||||||rs5752907|4503|-1||HGNC|HGNC:554|2||||||||Ensembl||T|T||1||chr22:g.29393032T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+4936T>C|||||||rs5752907||1||||||||||||Ensembl||T|T||||chr22:g.29393032T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+31835T>C|||||||rs5752907||1||||||||||||Ensembl||T|T||||chr22:g.29393032T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001127.4|protein_coding||||||||||rs5752907|4462|-1||EntrezGene|HGNC:554|||NP_001118.3||||||RefSeq||T|T||||chr22:g.29393032T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001166019.2|protein_coding||||||||||rs5752907|4462|-1||EntrezGene|HGNC:554|||NP_001159491.1||||||RefSeq||T|T||||chr22:g.29393032T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378562.1|protein_coding||||||||||rs5752907|4462|-1||EntrezGene|HGNC:554|||NP_001365491.1||||||RefSeq||T|T||||chr22:g.29393032T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378563.1|protein_coding||||||||||rs5752907|4462|-1||EntrezGene|HGNC:554|||NP_001365492.1||||||RefSeq||T|T||||chr22:g.29393032T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378564.1|protein_coding||||||||||rs5752907|4462|-1||EntrezGene|HGNC:554|||NP_001365493.1||||||RefSeq||T|T||||chr22:g.29393032T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378565.1|protein_coding||||||||||rs5752907|4462|-1||EntrezGene|HGNC:554|||NP_001365494.1||||||RefSeq||T|T||||chr22:g.29393032T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_001378566.1|protein_coding||||||||||rs5752907|4462|-1||EntrezGene|HGNC:554|||NP_001365495.1||||||RefSeq||T|T||||chr22:g.29393032T>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+4936T>C|||||||rs5752907||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29393032T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|AP1B1|162|Transcript|NM_145730.3|protein_coding||||||||||rs5752907|4462|-1||EntrezGene|HGNC:554|||NP_663782.2||||||RefSeq||T|T||||chr22:g.29393032T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000317368,ENST00000357586,ENST00000405198,ENST00000432560,ENST00000473606,ENST00000650462,ENST00000752284,NM_001127.4,NM_001166019.2,NM_001378562.1,NM_001378563.1,NM_001378564.1,NM_001378565.1,NM_001378566.1,NM_001393612.1,NM_145730.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000100280,ENSG00000290778,ENSG00000290778,162,162,162,162,162,162,162,5988,162;VEP_SYMBOL=AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,.,.,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,AP1B1,RFPL1,AP1B1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54375;gnomADv4_1_AC_joint_XX=27320;gnomADv4_1_AC_joint_XY=27055;gnomADv4_1_AF_grpmax_joint=0.664795;gnomADv4_1_AF_joint=0.357702;gnomADv4_1_AF_joint_XX=0.351672;gnomADv4_1_AF_joint_XY=0.364005;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10643;gnomADv4_1_nhomalt_joint_XX=5252;gnomADv4_1_nhomalt_joint_XY=5391;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29393684 chr22_29393684_T_TAG T TAG 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=3.619;CADDIndel_Rawscore=0.331402;CSQ=AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+5607_188+5608dup|||||||rs35434800||1||||||||||||Ensembl||||||20|chr22:g.29393703_29393704dup|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+32506_130+32507dup|||||||rs35434800||1||||||||||||Ensembl||||||20|chr22:g.29393703_29393704dup|||||||||||||,AG|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+5607_-1211+5608dup|||||||rs35434800||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||20|chr22:g.29393703_29393704dup|||||||||||||;TYPE=INDEL;VEP_Allele=AG,AG,AG;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=23741;gnomADv4_1_AC_joint_XX=12346;gnomADv4_1_AC_joint_XY=11395;gnomADv4_1_AF_grpmax_joint=0.294625;gnomADv4_1_AF_joint=0.15879;gnomADv4_1_AF_joint_XX=0.161133;gnomADv4_1_AF_joint_XY=0.156327;gnomADv4_1_AN_grpmax_joint=5098;gnomADv4_1_AN_joint=149512;gnomADv4_1_AN_joint_XX=76620;gnomADv4_1_AN_joint_XY=72892;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1952;gnomADv4_1_nhomalt_joint_XX=1015;gnomADv4_1_nhomalt_joint_XY=937;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29394336 chr22_29394336_T_TTTTTG T TTTTTG 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.877;CADDIndel_Rawscore=-0.051776;CSQ=TTTTG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+6261_188+6265dup|||||||rs151036219||1||||||||||||Ensembl||||||25|chr22:g.29394357_29394361dup|||||||||||||,TTTTG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+33160_130+33164dup|||||||rs151036219||1||||||||||||Ensembl||||||25|chr22:g.29394357_29394361dup|||||||||||||,TTTTG|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+6261_-1211+6265dup|||||||rs151036219||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||25|chr22:g.29394357_29394361dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTTG,TTTTG,TTTTG;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=36637;gnomADv4_1_AC_joint_XX=18297;gnomADv4_1_AC_joint_XY=18340;gnomADv4_1_AF_grpmax_joint=0.378957;gnomADv4_1_AF_joint=0.245231;gnomADv4_1_AF_joint_XX=0.23897;gnomADv4_1_AF_joint_XY=0.251812;gnomADv4_1_AN_grpmax_joint=40308;gnomADv4_1_AN_joint=149398;gnomADv4_1_AN_joint_XX=76566;gnomADv4_1_AN_joint_XY=72832;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5271;gnomADv4_1_nhomalt_joint_XX=2607;gnomADv4_1_nhomalt_joint_XY=2664;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29394366 chr22_29394366_G_A G A 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.139;CADD_Rawscore=0.015977;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+6270G>A|||||||rs575110643||1||||||||||||Ensembl||G|G||||chr22:g.29394366G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+33169G>A|||||||rs575110643||1||||||||||||Ensembl||G|G||||chr22:g.29394366G>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+6270G>A|||||||rs575110643||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29394366G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=260;gnomADv4_1_AC_joint_XX=132;gnomADv4_1_AC_joint_XY=128;gnomADv4_1_AF_grpmax_joint=0.0205479;gnomADv4_1_AF_joint=0.00171899;gnomADv4_1_AF_joint_XX=0.00170512;gnomADv4_1_AF_joint_XY=0.00173352;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151252;gnomADv4_1_AN_joint_XX=77414;gnomADv4_1_AN_joint_XY=73838;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29395245 chr22_29395245_A_G A G 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.438;CADD_Rawscore=0.077011;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+7149A>G|||||||rs174775||1||||||||||||Ensembl||A|A||||chr22:g.29395245A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+34048A>G|||||||rs174775||1||||||||||||Ensembl||A|A||||chr22:g.29395245A>G|||1||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+7149A>G|||||||rs174775||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29395245A>G|||1||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7SHR|enhancer||||||||||rs174775|||||||||||||||||||||chr22:g.29395245A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1,ENSR22_B7SHR;VEP_Feature_type=Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000290778,ENSG00000290778,5988,.;VEP_SYMBOL=.,.,RFPL1,.;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=100325;gnomADv4_1_AC_joint_XX=51421;gnomADv4_1_AC_joint_XY=48904;gnomADv4_1_AF_grpmax_joint=0.909958;gnomADv4_1_AF_joint=0.659998;gnomADv4_1_AF_joint_XX=0.661602;gnomADv4_1_AF_joint_XY=0.658321;gnomADv4_1_AN_grpmax_joint=41514;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=35148;gnomADv4_1_nhomalt_joint_XX=18071;gnomADv4_1_nhomalt_joint_XY=17077;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29395841 chr22_29395841_T_C T C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.671;CADD_Rawscore=-0.119713;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+7745T>C|||||||rs6006120||1||||||||||||Ensembl||T|T||||chr22:g.29395841T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+34644T>C|||||||rs6006120||1||||||||||||Ensembl||T|T||||chr22:g.29395841T>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+7745T>C|||||||rs6006120||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29395841T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=49345;gnomADv4_1_AC_joint_XX=24845;gnomADv4_1_AC_joint_XY=24500;gnomADv4_1_AF_grpmax_joint=0.562563;gnomADv4_1_AF_joint=0.32504;gnomADv4_1_AF_joint_XX=0.320159;gnomADv4_1_AF_joint_XY=0.330144;gnomADv4_1_AN_grpmax_joint=41350;gnomADv4_1_AN_joint=151812;gnomADv4_1_AN_joint_XX=77602;gnomADv4_1_AN_joint_XY=74210;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10035;gnomADv4_1_nhomalt_joint_XX=5069;gnomADv4_1_nhomalt_joint_XY=4966;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29396897 chr22_29396897_CTT_C CTT C 17 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=17;CADDIndel_PHREDscore=2.047;CADDIndel_Rawscore=0.170107;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+8827_188+8828del|||||||rs796852407||1||||||||||||Ensembl||TT|TT|||25|chr22:g.29396923_29396924del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+35726_130+35727del|||||||rs796852407||1||||||||||||Ensembl||TT|TT|||25|chr22:g.29396923_29396924del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+8827_-1211+8828del|||||||rs796852407||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||TT|TT|||25|chr22:g.29396923_29396924del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=10533;gnomADv4_1_AC_joint_XX=5834;gnomADv4_1_AC_joint_XY=4699;gnomADv4_1_AF_grpmax_joint=0.286291;gnomADv4_1_AF_joint=0.149987;gnomADv4_1_AF_joint_XX=0.152947;gnomADv4_1_AF_joint_XY=0.146468;gnomADv4_1_AN_grpmax_joint=14108;gnomADv4_1_AN_joint=70226;gnomADv4_1_AN_joint_XX=38144;gnomADv4_1_AN_joint_XY=32082;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=129;gnomADv4_1_nhomalt_joint_XX=70;gnomADv4_1_nhomalt_joint_XY=59;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29396975 chr22_29396975_C_T C T 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=2.235;CADD_Rawscore=0.193504;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.188+8879C>T|||||||rs9613889||1||||||||||||Ensembl||C|C||||chr22:g.29396975C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+35778C>T|||||||rs9613889||1||||||||||||Ensembl||C|C||||chr22:g.29396975C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1211+8879C>T|||||||rs9613889||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29396975C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=44418;gnomADv4_1_AC_joint_XX=22401;gnomADv4_1_AC_joint_XY=22017;gnomADv4_1_AF_grpmax_joint=0.495775;gnomADv4_1_AF_joint=0.308789;gnomADv4_1_AF_joint_XX=0.30079;gnomADv4_1_AF_joint_XY=0.317376;gnomADv4_1_AN_grpmax_joint=38818;gnomADv4_1_AN_joint=143846;gnomADv4_1_AN_joint_XX=74474;gnomADv4_1_AN_joint_XY=69372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7955;gnomADv4_1_nhomalt_joint_XX=4014;gnomADv4_1_nhomalt_joint_XY=3941;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29397536 chr22_29397536_G_C G C 59 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.589;CADD_Rawscore=-0.152186;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-9267G>C|||||||rs2267137||1||||||||||||Ensembl||G|G||||chr22:g.29397536G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+36339G>C|||||||rs2267137||1||||||||||||Ensembl||G|G||||chr22:g.29397536G>C|||1||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-9267G>C|||||||rs2267137||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29397536G>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=90639;gnomADv4_1_AC_joint_XX=46320;gnomADv4_1_AC_joint_XY=44319;gnomADv4_1_AF_grpmax_joint=0.728865;gnomADv4_1_AF_joint=0.600569;gnomADv4_1_AF_joint_XX=0.600389;gnomADv4_1_AF_joint_XY=0.600756;gnomADv4_1_AN_grpmax_joint=40526;gnomADv4_1_AN_joint=150922;gnomADv4_1_AN_joint_XX=77150;gnomADv4_1_AN_joint_XY=73772;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=27681;gnomADv4_1_nhomalt_joint_XX=14117;gnomADv4_1_nhomalt_joint_XY=13564;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29397652 chr22_29397652_A_G A G 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=14.75;CADD_Rawscore=1.59952;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-9151A>G|||||||rs2267138||1||||||||||||Ensembl||A|A||||chr22:g.29397652A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+36455A>G|||||||rs2267138||1||||||||||||Ensembl||A|A||||chr22:g.29397652A>G|||1||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-9151A>G|||||||rs2267138||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29397652A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=18928;gnomADv4_1_AC_joint_XX=9620;gnomADv4_1_AC_joint_XY=9308;gnomADv4_1_AF_grpmax_joint=0.315095;gnomADv4_1_AF_joint=0.124381;gnomADv4_1_AF_joint_XX=0.123714;gnomADv4_1_AF_joint_XY=0.125077;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152178;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1355;gnomADv4_1_nhomalt_joint_XX=659;gnomADv4_1_nhomalt_joint_XY=696;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29397752 chr22_29397752_A_G A G 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.782;CADD_Rawscore=-0.080796;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-9051A>G|||||||rs714963||1||||||||||||Ensembl||A|A||||chr22:g.29397752A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.130+36555A>G|||||||rs714963||1||||||||||||Ensembl||A|A||||chr22:g.29397752A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-9051A>G|||||||rs714963||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29397752A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=31116;gnomADv4_1_AC_joint_XX=16028;gnomADv4_1_AC_joint_XY=15088;gnomADv4_1_AF_grpmax_joint=0.317068;gnomADv4_1_AF_joint=0.204686;gnomADv4_1_AF_joint_XX=0.206217;gnomADv4_1_AF_joint_XY=0.203085;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3562;gnomADv4_1_nhomalt_joint_XX=1807;gnomADv4_1_nhomalt_joint_XY=1755;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29397846 chr22_29397846_A_G A G 60 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=1.236;CADD_Rawscore=0.037411;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-8957A>G|||||||rs714962||1||||||||||||Ensembl||A|A||||chr22:g.29397846A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-36592A>G|||||||rs714962||1||||||||||||Ensembl||A|A||||chr22:g.29397846A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-8957A>G|||||||rs714962||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29397846A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=62313;gnomADv4_1_AC_joint_XX=31422;gnomADv4_1_AC_joint_XY=30891;gnomADv4_1_AF_grpmax_joint=0.755918;gnomADv4_1_AF_joint=0.410435;gnomADv4_1_AF_joint_XX=0.404766;gnomADv4_1_AF_joint_XY=0.416366;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151822;gnomADv4_1_AN_joint_XX=77630;gnomADv4_1_AN_joint_XY=74192;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14051;gnomADv4_1_nhomalt_joint_XX=6977;gnomADv4_1_nhomalt_joint_XY=7074;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29398038 chr22_29398038_A_C A C 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=4.843;CADD_Rawscore=0.441278;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-8765A>C|||||||rs2188121||1||||||||||||Ensembl||A|A||||chr22:g.29398038A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-36400A>C|||||||rs2188121||1||||||||||||Ensembl||A|A||||chr22:g.29398038A>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-8765A>C|||||||rs2188121||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29398038A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=80922;gnomADv4_1_AC_joint_XX=41230;gnomADv4_1_AC_joint_XY=39692;gnomADv4_1_AF_grpmax_joint=0.816524;gnomADv4_1_AF_joint=0.53227;gnomADv4_1_AF_joint_XX=0.530385;gnomADv4_1_AF_joint_XY=0.534241;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24330;gnomADv4_1_nhomalt_joint_XX=12424;gnomADv4_1_nhomalt_joint_XY=11906;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29398924 chr22_29398924_G_T G T 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=27;CADD_PHREDscore=4.964;CADD_Rawscore=0.452495;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-7879G>T|||||||rs8141229||1||||||||||||Ensembl||G|G||||chr22:g.29398924G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-35514G>T|||||||rs8141229||1||||||||||||Ensembl||G|G||||chr22:g.29398924G>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-7879G>T|||||||rs8141229||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29398924G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=24733;gnomADv4_1_AC_joint_XX=12910;gnomADv4_1_AC_joint_XY=11823;gnomADv4_1_AF_grpmax_joint=0.207284;gnomADv4_1_AF_joint=0.162589;gnomADv4_1_AF_joint_XX=0.166036;gnomADv4_1_AF_joint_XY=0.158984;gnomADv4_1_AN_grpmax_joint=67984;gnomADv4_1_AN_joint=152120;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2192;gnomADv4_1_nhomalt_joint_XX=1149;gnomADv4_1_nhomalt_joint_XY=1043;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29399260 chr22_29399260_CA_C CA C 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=1.733;CADDIndel_Rawscore=0.126026;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-7529del|||||||rs695240||1||||||||||||Ensembl||A|A|||13|chr22:g.29399274del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-35164del|||||||rs695240||1||||||||||||Ensembl||A|A|||13|chr22:g.29399274del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-7529del|||||||rs695240||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A|||13|chr22:g.29399274del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=105003;gnomADv4_1_AC_joint_XX=53807;gnomADv4_1_AC_joint_XY=51196;gnomADv4_1_AF_grpmax_joint=0.858446;gnomADv4_1_AF_joint=0.71564;gnomADv4_1_AF_joint_XX=0.712128;gnomADv4_1_AF_joint_XY=0.719368;gnomADv4_1_AN_grpmax_joint=4606;gnomADv4_1_AN_joint=146726;gnomADv4_1_AN_joint_XX=75558;gnomADv4_1_AN_joint_XY=71168;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=37126;gnomADv4_1_nhomalt_joint_XX=18989;gnomADv4_1_nhomalt_joint_XY=18137;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29399994 chr22_29399994_CT_C CT C 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.75;AF_XX=.;AF_XY=0.75;AN=4;AN_XX=0;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.452;CADDIndel_Rawscore=-0.21837;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-6790del|||||||rs11359739||1||||||||||||Ensembl||T|T|||18|chr22:g.29400013del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-34425del|||||||rs11359739||1||||||||||||Ensembl||T|T|||18|chr22:g.29400013del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-6790del|||||||rs11359739||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T|||18|chr22:g.29400013del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=47710;gnomADv4_1_AC_joint_XX=25036;gnomADv4_1_AC_joint_XY=22674;gnomADv4_1_AF_grpmax_joint=0.626477;gnomADv4_1_AF_joint=0.410783;gnomADv4_1_AF_joint_XX=0.408125;gnomADv4_1_AF_joint_XY=0.413759;gnomADv4_1_AN_grpmax_joint=3724;gnomADv4_1_AN_joint=116144;gnomADv4_1_AN_joint_XX=61344;gnomADv4_1_AN_joint_XY=54800;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8071;gnomADv4_1_nhomalt_joint_XX=4125;gnomADv4_1_nhomalt_joint_XY=3946;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29400786 chr22_29400786_T_C T C 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.316;CADD_Rawscore=0.053702;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-6017T>C|||||||rs2283855||1||||||||||||Ensembl||T|T||||chr22:g.29400786T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-33652T>C|||||||rs2283855||1||||||||||||Ensembl||T|T||||chr22:g.29400786T>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-6017T>C|||||||rs2283855||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29400786T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=99410;gnomADv4_1_AC_joint_XX=50696;gnomADv4_1_AC_joint_XY=48714;gnomADv4_1_AF_grpmax_joint=0.888105;gnomADv4_1_AF_joint=0.653205;gnomADv4_1_AF_joint_XX=0.651804;gnomADv4_1_AF_joint_XY=0.65467;gnomADv4_1_AN_grpmax_joint=41548;gnomADv4_1_AN_joint=152188;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=34478;gnomADv4_1_nhomalt_joint_XX=17590;gnomADv4_1_nhomalt_joint_XY=16888;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29400979 chr22_29400979_T_G T G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.44;CADD_Rawscore=0.315276;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-5824T>G|||||||rs1569173419||1||||||||||||Ensembl||T|T||||chr22:g.29400979T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-33459T>G|||||||rs1569173419||1||||||||||||Ensembl||T|T||||chr22:g.29400979T>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-5824T>G|||||||rs1569173419||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29400979T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29401370 chr22_29401370_C_G C G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=4.763;CADD_Rawscore=0.433897;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-5433C>G|||||||rs2283856||1||||||||||||Ensembl||C|C||||chr22:g.29401370C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-33068C>G|||||||rs2283856||1||||||||||||Ensembl||C|C||||chr22:g.29401370C>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-5433C>G|||||||rs2283856||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29401370C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=54257;gnomADv4_1_AC_joint_XX=27342;gnomADv4_1_AC_joint_XY=26915;gnomADv4_1_AF_grpmax_joint=0.568614;gnomADv4_1_AF_joint=0.357745;gnomADv4_1_AF_joint_XX=0.352536;gnomADv4_1_AF_joint_XY=0.363196;gnomADv4_1_AN_grpmax_joint=41158;gnomADv4_1_AN_joint=151664;gnomADv4_1_AN_joint_XX=77558;gnomADv4_1_AN_joint_XY=74106;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11500;gnomADv4_1_nhomalt_joint_XX=5856;gnomADv4_1_nhomalt_joint_XY=5644;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29401384 chr22_29401384_G_T G T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.092;CADD_Rawscore=0.005078;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-5419G>T|||||||rs2283857||1||||||||||||Ensembl||G|G||||chr22:g.29401384G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-33054G>T|||||||rs2283857||1||||||||||||Ensembl||G|G||||chr22:g.29401384G>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-5419G>T|||||||rs2283857||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29401384G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=54063;gnomADv4_1_AC_joint_XX=27225;gnomADv4_1_AC_joint_XY=26838;gnomADv4_1_AF_grpmax_joint=0.567755;gnomADv4_1_AF_joint=0.356884;gnomADv4_1_AF_joint_XX=0.35159;gnomADv4_1_AF_joint_XY=0.362421;gnomADv4_1_AN_grpmax_joint=41030;gnomADv4_1_AN_joint=151486;gnomADv4_1_AN_joint_XX=77434;gnomADv4_1_AN_joint_XY=74052;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11371;gnomADv4_1_nhomalt_joint_XX=5784;gnomADv4_1_nhomalt_joint_XY=5587;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29402662 chr22_29402662_G_A G A 21 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=21;CADD_PHREDscore=0.232;CADD_Rawscore=-0.387947;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs2267139|4141|1||||||||||||Ensembl||G|G||||chr22:g.29402662G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-4141G>A|||||||rs2267139||1||||||||||||Ensembl||G|G||||chr22:g.29402662G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-31776G>A|||||||rs2267139||1||||||||||||Ensembl||G|G||||chr22:g.29402662G>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-4141G>A|||||||rs2267139||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29402662G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=42410;gnomADv4_1_AC_joint_XX=21991;gnomADv4_1_AC_joint_XY=20419;gnomADv4_1_AF_grpmax_joint=0.303452;gnomADv4_1_AF_joint=0.282233;gnomADv4_1_AF_joint_XX=0.28582;gnomADv4_1_AF_joint_XY=0.278469;gnomADv4_1_AN_grpmax_joint=67622;gnomADv4_1_AN_joint=150266;gnomADv4_1_AN_joint_XX=76940;gnomADv4_1_AN_joint_XY=73326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5978;gnomADv4_1_nhomalt_joint_XX=3168;gnomADv4_1_nhomalt_joint_XY=2810;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29402695 chr22_29402695_C_T C T 21 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=21;CADD_PHREDscore=2.895;CADD_Rawscore=0.264307;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs2267140|4108|1||||||||||||Ensembl||C|C||||chr22:g.29402695C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-4108C>T|||||||rs2267140||1||||||||||||Ensembl||C|C||||chr22:g.29402695C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-31743C>T|||||||rs2267140||1||||||||||||Ensembl||C|C||||chr22:g.29402695C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-4108C>T|||||||rs2267140||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29402695C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=48254;gnomADv4_1_AC_joint_XX=24454;gnomADv4_1_AC_joint_XY=23800;gnomADv4_1_AF_grpmax_joint=0.543212;gnomADv4_1_AF_joint=0.335993;gnomADv4_1_AF_joint_XX=0.331679;gnomADv4_1_AF_joint_XY=0.340545;gnomADv4_1_AN_grpmax_joint=37004;gnomADv4_1_AN_joint=143616;gnomADv4_1_AN_joint_XX=73728;gnomADv4_1_AN_joint_XY=69888;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9542;gnomADv4_1_nhomalt_joint_XX=4903;gnomADv4_1_nhomalt_joint_XY=4639;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29402760 chr22_29402760_C_T C T 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=19;CADD_PHREDscore=0.687;CADD_Rawscore=-0.113476;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs2267141|4043|1||||||||||||Ensembl||C|C||||chr22:g.29402760C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-4043C>T|||||||rs2267141||1||||||||||||Ensembl||C|C||||chr22:g.29402760C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-31678C>T|||||||rs2267141||1||||||||||||Ensembl||C|C||||chr22:g.29402760C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-4043C>T|||||||rs2267141||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29402760C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=41119;gnomADv4_1_AC_joint_XX=21427;gnomADv4_1_AC_joint_XY=19692;gnomADv4_1_AF_grpmax_joint=0.538859;gnomADv4_1_AF_joint=0.31274;gnomADv4_1_AF_joint_XX=0.313609;gnomADv4_1_AF_joint_XY=0.311799;gnomADv4_1_AN_grpmax_joint=31524;gnomADv4_1_AN_joint=131480;gnomADv4_1_AN_joint_XX=68324;gnomADv4_1_AN_joint_XY=63156;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8372;gnomADv4_1_nhomalt_joint_XX=4490;gnomADv4_1_nhomalt_joint_XY=3882;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29402766 chr22_29402766_G_T G T 22 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=22;CADD_PHREDscore=0.73;CADD_Rawscore=-0.09819;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs2267142|4037|1||||||||||||Ensembl||G|G||||chr22:g.29402766G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-4037G>T|||||||rs2267142||1||||||||||||Ensembl||G|G||||chr22:g.29402766G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-31672G>T|||||||rs2267142||1||||||||||||Ensembl||G|G||||chr22:g.29402766G>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-4037G>T|||||||rs2267142||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29402766G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=40997;gnomADv4_1_AC_joint_XX=21327;gnomADv4_1_AC_joint_XY=19670;gnomADv4_1_AF_grpmax_joint=0.537023;gnomADv4_1_AF_joint=0.312025;gnomADv4_1_AF_joint_XX=0.312749;gnomADv4_1_AF_joint_XY=0.311244;gnomADv4_1_AN_grpmax_joint=31494;gnomADv4_1_AN_joint=131390;gnomADv4_1_AN_joint_XX=68192;gnomADv4_1_AN_joint_XY=63198;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8353;gnomADv4_1_nhomalt_joint_XX=4485;gnomADv4_1_nhomalt_joint_XY=3868;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29402822 chr22_29402822_G_C G C 20 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=20;CADD_PHREDscore=2.708;CADD_Rawscore=0.245595;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs4256055|3981|1||||||||||||Ensembl||G|G||||chr22:g.29402822G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-3981G>C|||||||rs4256055||1||||||||||||Ensembl||G|G||||chr22:g.29402822G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-31616G>C|||||||rs4256055||1||||||||||||Ensembl||G|G||||chr22:g.29402822G>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-3981G>C|||||||rs4256055||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29402822G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=28590;gnomADv4_1_AC_joint_XX=15013;gnomADv4_1_AC_joint_XY=13577;gnomADv4_1_AF_grpmax_joint=0.253314;gnomADv4_1_AF_joint=0.202832;gnomADv4_1_AF_joint_XX=0.206404;gnomADv4_1_AF_joint_XY=0.199024;gnomADv4_1_AN_grpmax_joint=34404;gnomADv4_1_AN_joint=140954;gnomADv4_1_AN_joint_XX=72736;gnomADv4_1_AN_joint_XY=68218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3069;gnomADv4_1_nhomalt_joint_XX=1609;gnomADv4_1_nhomalt_joint_XY=1460;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29402922 chr22_29402922_T_G T G 44 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=3.165;CADD_Rawscore=0.290024;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs5752908|3881|1||||||||||||Ensembl||T|T||||chr22:g.29402922T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-3881T>G|||||||rs5752908||1||||||||||||Ensembl||T|T||||chr22:g.29402922T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-31516T>G|||||||rs5752908||1||||||||||||Ensembl||T|T||||chr22:g.29402922T>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-3881T>G|||||||rs5752908||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29402922T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=123370;gnomADv4_1_AC_joint_XX=64708;gnomADv4_1_AC_joint_XY=58662;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999968;gnomADv4_1_AF_joint_XX=0.999969;gnomADv4_1_AF_joint_XY=0.999966;gnomADv4_1_AN_grpmax_joint=280;gnomADv4_1_AN_joint=123374;gnomADv4_1_AN_joint_XX=64710;gnomADv4_1_AN_joint_XY=58664;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=61685;gnomADv4_1_nhomalt_joint_XX=32354;gnomADv4_1_nhomalt_joint_XY=29331;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29403016 chr22_29403016_T_C T C 24 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=24;CADD_PHREDscore=4.19;CADD_Rawscore=0.382111;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs5763205|3787|1||||||||||||Ensembl||T|T||||chr22:g.29403016T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-3787T>C|||||||rs5763205||1||||||||||||Ensembl||T|T||||chr22:g.29403016T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-31422T>C|||||||rs5763205||1||||||||||||Ensembl||T|T||||chr22:g.29403016T>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-3787T>C|||||||rs5763205||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29403016T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=12267;gnomADv4_1_AC_joint_XX=6278;gnomADv4_1_AC_joint_XY=5989;gnomADv4_1_AF_grpmax_joint=0.234816;gnomADv4_1_AF_joint=0.0849904;gnomADv4_1_AF_joint_XX=0.0845408;gnomADv4_1_AF_joint_XY=0.0854668;gnomADv4_1_AN_grpmax_joint=4676;gnomADv4_1_AN_joint=144334;gnomADv4_1_AN_joint_XX=74260;gnomADv4_1_AN_joint_XY=70074;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=634;gnomADv4_1_nhomalt_joint_XX=322;gnomADv4_1_nhomalt_joint_XY=312;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29403185 chr22_29403185_A_T A T 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=14;CADD_PHREDscore=1.586;CADD_Rawscore=0.102684;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs9613891|3618|1||||||||||||Ensembl||A|A||||chr22:g.29403185A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-3618A>T|||||||rs9613891||1||||||||||||Ensembl||A|A||||chr22:g.29403185A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-31253A>T|||||||rs9613891||1||||||||||||Ensembl||A|A||||chr22:g.29403185A>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-3618A>T|||||||rs9613891||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29403185A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=53201;gnomADv4_1_AC_joint_XX=26778;gnomADv4_1_AC_joint_XY=26423;gnomADv4_1_AF_grpmax_joint=0.555382;gnomADv4_1_AF_joint=0.351115;gnomADv4_1_AF_joint_XX=0.34563;gnomADv4_1_AF_joint_XY=0.356855;gnomADv4_1_AN_grpmax_joint=5128;gnomADv4_1_AN_joint=151520;gnomADv4_1_AN_joint_XX=77476;gnomADv4_1_AN_joint_XY=74044;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11020;gnomADv4_1_nhomalt_joint_XX=5582;gnomADv4_1_nhomalt_joint_XY=5438;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29403269 chr22_29403269_GA_G GA G 22 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=22;CADDIndel_PHREDscore=0.778;CADDIndel_Rawscore=-0.082035;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs3216410|3533|1||||||||||||Ensembl||A|A||||chr22:g.29403272del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-3531del|||||||rs3216410||1||||||||||||Ensembl||A|A|||2|chr22:g.29403272del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-31166del|||||||rs3216410||1||||||||||||Ensembl||A|A|||2|chr22:g.29403272del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-3531del|||||||rs3216410||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A|||2|chr22:g.29403272del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=51381;gnomADv4_1_AC_joint_XX=25970;gnomADv4_1_AC_joint_XY=25411;gnomADv4_1_AF_grpmax_joint=0.553415;gnomADv4_1_AF_joint=0.349436;gnomADv4_1_AF_joint_XX=0.344485;gnomADv4_1_AF_joint_XY=0.354645;gnomADv4_1_AN_grpmax_joint=39034;gnomADv4_1_AN_joint=147040;gnomADv4_1_AN_joint_XX=75388;gnomADv4_1_AN_joint_XY=71652;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10150;gnomADv4_1_nhomalt_joint_XX=5178;gnomADv4_1_nhomalt_joint_XY=4972;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29403474 chr22_29403474_T_C T C 15 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=15;CADD_PHREDscore=2.283;CADD_Rawscore=0.199144;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs2267143|3329|1||||||||||||Ensembl||T|T||||chr22:g.29403474T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-3329T>C|||||||rs2267143||1||||||||||||Ensembl||T|T||||chr22:g.29403474T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-30964T>C|||||||rs2267143||1||||||||||||Ensembl||T|T||||chr22:g.29403474T>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-3329T>C|||||||rs2267143||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29403474T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,5988;VEP_SYMBOL=.,.,.,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=53135;gnomADv4_1_AC_joint_XX=26760;gnomADv4_1_AC_joint_XY=26375;gnomADv4_1_AF_grpmax_joint=0.557383;gnomADv4_1_AF_joint=0.35171;gnomADv4_1_AF_joint_XX=0.346255;gnomADv4_1_AF_joint_XY=0.357424;gnomADv4_1_AN_grpmax_joint=5106;gnomADv4_1_AN_joint=151076;gnomADv4_1_AN_joint_XX=77284;gnomADv4_1_AN_joint_XY=73792;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10925;gnomADv4_1_nhomalt_joint_XX=5544;gnomADv4_1_nhomalt_joint_XY=5381;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29404162 chr22_29404162_G_A G A 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=29;CADD_PHREDscore=3.229;CADD_Rawscore=0.295971;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs3865717|2641|1||||||||||||Ensembl||G|G||||chr22:g.29404162G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-2641G>A|||||||rs3865717||1||||||||||||Ensembl||G|G||||chr22:g.29404162G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-30276G>A|||||||rs3865717||1||||||||||||Ensembl||G|G||||chr22:g.29404162G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs3865717|4906|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29404162G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs3865717|4969|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29404162G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs3865717|4905|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29404162G>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-2641G>A|||||||rs3865717||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29404162G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs3865717|4906|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29404162G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs3865717|4975|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29404162G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4237;gnomADv4_1_AC_joint_XX=2205;gnomADv4_1_AC_joint_XY=2032;gnomADv4_1_AF_grpmax_joint=0.041924;gnomADv4_1_AF_joint=0.0280077;gnomADv4_1_AF_joint_XX=0.0284913;gnomADv4_1_AF_joint_XY=0.0275011;gnomADv4_1_AN_grpmax_joint=67694;gnomADv4_1_AN_joint=151280;gnomADv4_1_AN_joint_XX=77392;gnomADv4_1_AN_joint_XY=73888;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4;gnomADv4_1_nhomalt_joint_XX=2;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29404292 chr22_29404292_C_T C T 28 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=28;CADD_PHREDscore=0.109;CADD_Rawscore=-0.589215;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs3091378|2511|1||||||||||||Ensembl||C|C||||chr22:g.29404292C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-2511C>T|||||||rs3091378||1||||||||||||Ensembl||C|C||||chr22:g.29404292C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-30146C>T|||||||rs3091378||1||||||||||||Ensembl||C|C||||chr22:g.29404292C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs3091378|4902|1||||||||||||Ensembl||C|C||||chr22:g.29404292C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs3091378|4776|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29404292C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs3091378|4839|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29404292C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs3091378|4775|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29404292C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-2511C>T|||||||rs3091378||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29404292C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs3091378|4776|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29404292C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs3091378|4845|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29404292C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13004;gnomADv4_1_AC_joint_XX=6679;gnomADv4_1_AC_joint_XY=6325;gnomADv4_1_AF_grpmax_joint=0.129252;gnomADv4_1_AF_joint=0.0857738;gnomADv4_1_AF_joint_XX=0.0861673;gnomADv4_1_AF_joint_XY=0.0853622;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151608;gnomADv4_1_AN_joint_XX=77512;gnomADv4_1_AN_joint_XY=74096;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=10;gnomADv4_1_nhomalt_joint_XX=6;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29404343 chr22_29404343_T_A T A 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=29;CADD_PHREDscore=4.444;CADD_Rawscore=0.404892;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs6006123|2460|1||||||||||||Ensembl||T|T||||chr22:g.29404343T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-2460T>A|||||||rs6006123||1||||||||||||Ensembl||T|T||||chr22:g.29404343T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-30095T>A|||||||rs6006123||1||||||||||||Ensembl||T|T||||chr22:g.29404343T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs6006123|4851|1||||||||||||Ensembl||T|T||||chr22:g.29404343T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs6006123|4725|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29404343T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs6006123|4788|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29404343T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs6006123|4724|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29404343T>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-2460T>A|||||||rs6006123||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29404343T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs6006123|4725|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29404343T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs6006123|4794|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29404343T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18749;gnomADv4_1_AC_joint_XX=8975;gnomADv4_1_AC_joint_XY=9774;gnomADv4_1_AF_grpmax_joint=0.329235;gnomADv4_1_AF_joint=0.123664;gnomADv4_1_AF_joint_XX=0.115765;gnomADv4_1_AF_joint_XY=0.131931;gnomADv4_1_AN_grpmax_joint=5124;gnomADv4_1_AN_joint=151612;gnomADv4_1_AN_joint_XX=77528;gnomADv4_1_AN_joint_XY=74084;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9;gnomADv4_1_nhomalt_joint_XX=5;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29404457 chr22_29404457_A_G A G 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=6.288;CADD_Rawscore=0.582615;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs3865716|2346|1||||||||||||Ensembl||A|A||||chr22:g.29404457A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-2346A>G|||||||rs3865716||1||||||||||||Ensembl||A|A||||chr22:g.29404457A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-29981A>G|||||||rs3865716||1||||||||||||Ensembl||A|A||||chr22:g.29404457A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs3865716|4737|1||||||||||||Ensembl||A|A||||chr22:g.29404457A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs3865716|4611|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29404457A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs3865716|4674|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29404457A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs3865716|4610|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29404457A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-2346A>G|||||||rs3865716||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29404457A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs3865716|4611|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29404457A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs3865716|4680|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29404457A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=147770;gnomADv4_1_AC_joint_XX=75672;gnomADv4_1_AC_joint_XY=72098;gnomADv4_1_AF_grpmax_joint=0.999416;gnomADv4_1_AF_joint=0.974878;gnomADv4_1_AF_joint_XX=0.976085;gnomADv4_1_AF_joint_XY=0.973613;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151578;gnomADv4_1_AN_joint_XX=77526;gnomADv4_1_AN_joint_XY=74052;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72060;gnomADv4_1_nhomalt_joint_XX=36943;gnomADv4_1_nhomalt_joint_XY=35117;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29405454 chr22_29405454_G_T G T 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=1.179;CADD_Rawscore=0.025057;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs9608758|1349|1||||||||||||Ensembl||G|G||||chr22:g.29405454G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-1349G>T|||||||rs9608758||1||||||||||||Ensembl||G|G||||chr22:g.29405454G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-28984G>T|||||||rs9608758||1||||||||||||Ensembl||G|G||||chr22:g.29405454G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs9608758|3740|1||||||||||||Ensembl||G|G||||chr22:g.29405454G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs9608758|3614|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29405454G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs9608758|3677|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29405454G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs9608758|3613|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29405454G>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-1349G>T|||||||rs9608758||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29405454G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs9608758|3614|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29405454G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs9608758|3683|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29405454G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55848;gnomADv4_1_AC_joint_XX=28171;gnomADv4_1_AC_joint_XY=27677;gnomADv4_1_AF_grpmax_joint=0.601708;gnomADv4_1_AF_joint=0.369287;gnomADv4_1_AF_joint_XX=0.364249;gnomADv4_1_AF_joint_XY=0.37456;gnomADv4_1_AN_grpmax_joint=41334;gnomADv4_1_AN_joint=151232;gnomADv4_1_AN_joint_XX=77340;gnomADv4_1_AN_joint_XY=73892;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=12415;gnomADv4_1_nhomalt_joint_XX=6335;gnomADv4_1_nhomalt_joint_XY=6080;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29406001 chr22_29406001_C_T C T 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=6.441;CADD_Rawscore=0.598538;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs28633508|802|1||||||||||||Ensembl||C|C||||chr22:g.29406001C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-802C>T|||||||rs28633508||1||||||||||||Ensembl||C|C||||chr22:g.29406001C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-28437C>T|||||||rs28633508||1||||||||||||Ensembl||C|C||||chr22:g.29406001C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs28633508|3193|1||||||||||||Ensembl||C|C||||chr22:g.29406001C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs28633508|3067|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29406001C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs28633508|3130|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29406001C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs28633508|3066|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29406001C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-802C>T|||||||rs28633508||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29406001C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs28633508|3067|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29406001C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs28633508|3136|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29406001C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41927;gnomADv4_1_AC_joint_XX=21756;gnomADv4_1_AC_joint_XY=20171;gnomADv4_1_AF_grpmax_joint=0.304487;gnomADv4_1_AF_joint=0.281976;gnomADv4_1_AF_joint_XX=0.285519;gnomADv4_1_AF_joint_XY=0.278251;gnomADv4_1_AN_grpmax_joint=67034;gnomADv4_1_AN_joint=148690;gnomADv4_1_AN_joint_XX=76198;gnomADv4_1_AN_joint_XY=72492;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5987;gnomADv4_1_nhomalt_joint_XX=3171;gnomADv4_1_nhomalt_joint_XY=2816;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29406057 chr22_29406057_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=6.427;CADD_Rawscore=0.597044;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs185372207|746|1||||||||||||Ensembl||C|C||||chr22:g.29406057C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-746C>T|||||||rs185372207||1||||||||||||Ensembl||C|C||||chr22:g.29406057C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-28381C>T|||||||rs185372207||1||||||||||||Ensembl||C|C||||chr22:g.29406057C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs185372207|3137|1||||||||||||Ensembl||C|C||||chr22:g.29406057C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs185372207|3011|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29406057C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs185372207|3074|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29406057C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs185372207|3010|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29406057C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-746C>T|||||||rs185372207||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29406057C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs185372207|3011|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29406057C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs185372207|3080|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29406057C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11539;gnomADv4_1_AC_joint_XX=5951;gnomADv4_1_AC_joint_XY=5588;gnomADv4_1_AF_grpmax_joint=0.241957;gnomADv4_1_AF_joint=0.0914589;gnomADv4_1_AF_joint_XX=0.0887679;gnomADv4_1_AF_joint_XY=0.09451;gnomADv4_1_AN_grpmax_joint=4414;gnomADv4_1_AN_joint=126166;gnomADv4_1_AN_joint_XX=67040;gnomADv4_1_AN_joint_XY=59126;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=593;gnomADv4_1_nhomalt_joint_XX=298;gnomADv4_1_nhomalt_joint_XY=295;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29406094 chr22_29406094_G_C G C 36 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=3.022;CADD_Rawscore=0.27655;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs28470270|709|1||||||||||||Ensembl||G|G||||chr22:g.29406094G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-709G>C|||||||rs28470270||1||||||||||||Ensembl||G|G||||chr22:g.29406094G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-28344G>C|||||||rs28470270||1||||||||||||Ensembl||G|G||||chr22:g.29406094G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs28470270|3100|1||||||||||||Ensembl||G|G||||chr22:g.29406094G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs28470270|2974|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29406094G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs28470270|3037|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29406094G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs28470270|2973|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29406094G>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-709G>C|||||||rs28470270||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29406094G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs28470270|2974|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29406094G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs28470270|3043|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29406094G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119932;gnomADv4_1_AC_joint_XX=63624;gnomADv4_1_AC_joint_XY=56308;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999717;gnomADv4_1_AF_joint_XX=0.999654;gnomADv4_1_AF_joint_XY=0.999787;gnomADv4_1_AN_grpmax_joint=248;gnomADv4_1_AN_joint=119966;gnomADv4_1_AN_joint_XX=63646;gnomADv4_1_AN_joint_XY=56320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=59950;gnomADv4_1_nhomalt_joint_XX=31801;gnomADv4_1_nhomalt_joint_XY=28149;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29406111 chr22_29406111_T_G T G 32 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=4.158;CADD_Rawscore=0.379252;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs4823035|692|1||||||||||||Ensembl||T|T||||chr22:g.29406111T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-692T>G|||||||rs4823035||1||||||||||||Ensembl||T|T||||chr22:g.29406111T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-28327T>G|||||||rs4823035||1||||||||||||Ensembl||T|T||||chr22:g.29406111T>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs4823035|3083|1||||||||||||Ensembl||T|T||||chr22:g.29406111T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs4823035|2957|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29406111T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs4823035|3020|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29406111T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs4823035|2956|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29406111T>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-692T>G|||||||rs4823035||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29406111T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs4823035|2957|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29406111T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs4823035|3026|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29406111T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90953;gnomADv4_1_AC_joint_XX=49993;gnomADv4_1_AC_joint_XY=40960;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.990062;gnomADv4_1_AF_joint_XX=0.990156;gnomADv4_1_AF_joint_XY=0.989946;gnomADv4_1_AN_grpmax_joint=180;gnomADv4_1_AN_joint=91866;gnomADv4_1_AN_joint_XX=50490;gnomADv4_1_AN_joint_XY=41376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=45020;gnomADv4_1_nhomalt_joint_XX=24748;gnomADv4_1_nhomalt_joint_XY=20272;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29406146 chr22_29406146_AT_A AT A 13 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=13;CADDIndel_PHREDscore=0.713;CADDIndel_Rawscore=-0.104312;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs545815002|656|1||||||||||||Ensembl||T|T||||chr22:g.29406147del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-656del|||||||rs545815002||1||||||||||||Ensembl||T|T||||chr22:g.29406147del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-28291del|||||||rs545815002||1||||||||||||Ensembl||T|T||||chr22:g.29406147del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs545815002|3047|1||||||||||||Ensembl||T|T||||chr22:g.29406147del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs545815002|2921|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29406147del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs545815002|2984|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29406147del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs545815002|2920|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29406147del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-656del|||||||rs545815002||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29406147del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs545815002|2921|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29406147del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs545815002|2990|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29406147del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2770;gnomADv4_1_AC_joint_XX=1603;gnomADv4_1_AC_joint_XY=1167;gnomADv4_1_AF_grpmax_joint=0.122767;gnomADv4_1_AF_joint=0.0998126;gnomADv4_1_AF_joint_XX=0.111785;gnomADv4_1_AF_joint_XY=0.0870116;gnomADv4_1_AN_grpmax_joint=14776;gnomADv4_1_AN_joint=27752;gnomADv4_1_AN_joint_XX=14340;gnomADv4_1_AN_joint_XY=13412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=641;gnomADv4_1_nhomalt_joint_XX=350;gnomADv4_1_nhomalt_joint_XY=291;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29406266 chr22_29406266_CT_C CT C 24 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=24;CADDIndel_PHREDscore=0.377;CADDIndel_Rawscore=-0.264091;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs549621670|536|1||||||||||||Ensembl||T|T||||chr22:g.29406267del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-536del|||||||rs549621670||1||||||||||||Ensembl||T|T||||chr22:g.29406267del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-28171del|||||||rs549621670||1||||||||||||Ensembl||T|T||||chr22:g.29406267del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs549621670|2927|1||||||||||||Ensembl||T|T||||chr22:g.29406267del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs549621670|2801|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29406267del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs549621670|2864|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29406267del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs549621670|2800|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29406267del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-536del|||||||rs549621670||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29406267del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs549621670|2801|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29406267del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs549621670|2870|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29406267del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1;gnomADv4_1_AC_joint_XX=1;gnomADv4_1_AC_joint_XY=0;gnomADv4_1_AF_grpmax_joint=6.60153e-05;gnomADv4_1_AF_joint=6.64726e-06;gnomADv4_1_AF_joint_XX=1.29779e-05;gnomADv4_1_AF_joint_XY=0.0;gnomADv4_1_AN_grpmax_joint=15148;gnomADv4_1_AN_joint=150438;gnomADv4_1_AN_joint_XX=77054;gnomADv4_1_AN_joint_XY=73384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29406269 chr22_29406269_T_A T A 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=18;CADD_PHREDscore=3.505;CADD_Rawscore=0.32113;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs56734349|534|1||||||||||||Ensembl||T|T||||chr22:g.29406269T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-534T>A|||||||rs56734349||1||||||||||||Ensembl||T|T||||chr22:g.29406269T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-28169T>A|||||||rs56734349||1||||||||||||Ensembl||T|T||||chr22:g.29406269T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs56734349|2925|1||||||||||||Ensembl||T|T||||chr22:g.29406269T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs56734349|2799|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29406269T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs56734349|2862|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29406269T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs56734349|2798|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29406269T>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-534T>A|||||||rs56734349||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29406269T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs56734349|2799|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29406269T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs56734349|2868|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29406269T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29406270 chr22_29406270_A_C A C 23 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=23;CADD_PHREDscore=2.082;CADD_Rawscore=0.174539;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs59387231|533|1||||||||||||Ensembl||A|A||||chr22:g.29406270A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-533A>C|||||||rs59387231||1||||||||||||Ensembl||A|A||||chr22:g.29406270A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-28168A>C|||||||rs59387231||1||||||||||||Ensembl||A|A||||chr22:g.29406270A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs59387231|2924|1||||||||||||Ensembl||A|A||||chr22:g.29406270A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs59387231|2798|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29406270A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs59387231|2861|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29406270A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs59387231|2797|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29406270A>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-533A>C|||||||rs59387231||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29406270A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs59387231|2798|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29406270A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs59387231|2867|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29406270A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=.;gnomADv4_1_AC_joint_XX=.;gnomADv4_1_AC_joint_XY=.;gnomADv4_1_AF_grpmax_joint=.;gnomADv4_1_AF_joint=.;gnomADv4_1_AF_joint_XX=.;gnomADv4_1_AF_joint_XY=.;gnomADv4_1_AN_grpmax_joint=.;gnomADv4_1_AN_joint=150206;gnomADv4_1_AN_joint_XX=76924;gnomADv4_1_AN_joint_XY=73282;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=.;gnomADv4_1_nhomalt_joint=.;gnomADv4_1_nhomalt_joint_XX=.;gnomADv4_1_nhomalt_joint_XY=.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29406603 chr22_29406603_A_G A G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.997;CADD_Rawscore=-0.01858;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs9613893|200|1||||||||||||Ensembl||A|A||||chr22:g.29406603A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||1/6|ENST00000650462.1:n.189-200A>G|||||||rs9613893||1||||||||||||Ensembl||A|A||||chr22:g.29406603A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-27835A>G|||||||rs9613893||1||||||||||||Ensembl||A|A||||chr22:g.29406603A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs9613893|2591|1||||||||||||Ensembl||A|A||||chr22:g.29406603A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs9613893|2465|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29406603A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs9613893|2528|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29406603A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs9613893|2464|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29406603A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||1/9|NM_001393612.1:c.-1210-200A>G|||||||rs9613893||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29406603A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs9613893|2465|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29406603A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs9613893|2534|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29406603A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55801;gnomADv4_1_AC_joint_XX=28173;gnomADv4_1_AC_joint_XY=27628;gnomADv4_1_AF_grpmax_joint=0.599846;gnomADv4_1_AF_joint=0.366764;gnomADv4_1_AF_joint_XX=0.362251;gnomADv4_1_AF_joint_XY=0.371484;gnomADv4_1_AN_grpmax_joint=41504;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=12381;gnomADv4_1_nhomalt_joint_XX=6332;gnomADv4_1_nhomalt_joint_XY=6049;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29406812 chr22_29406812_C_A C A 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=12;CADD_PHREDscore=0.495;CADD_Rawscore=-0.195881;CSQ=A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene|1/5||ENST00000649455.1:n.10C>A||10|||||rs56095561||1||||||||||||Ensembl||C|C||||chr22:g.29406812C>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA|2/7||ENST00000650462.1:n.198C>A||198|||||rs56095561||1||||||||||||Ensembl||C|C||||chr22:g.29406812C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-27626C>A|||||||rs56095561||1||||||||||||Ensembl||C|C||||chr22:g.29406812C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs56095561|2382|1||||||||||||Ensembl||C|C||||chr22:g.29406812C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs56095561|2256|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29406812C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs56095561|2319|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29406812C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs56095561|2255|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29406812C>A|||||||||||||,A|5_prime_UTR_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding|2/10||NM_001393612.1:c.-1201C>A||198|||||rs56095561||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29406812C>A|||||||||0|2|20||,A|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs56095561|2256|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29406812C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs56095561|2325|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29406812C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,0,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,2,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,20,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29706;gnomADv4_1_AC_joint_XX=15513;gnomADv4_1_AC_joint_XY=14193;gnomADv4_1_AF_grpmax_joint=0.227801;gnomADv4_1_AF_joint=0.19526;gnomADv4_1_AF_joint_XX=0.199514;gnomADv4_1_AF_joint_XY=0.190812;gnomADv4_1_AN_grpmax_joint=41488;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3038;gnomADv4_1_nhomalt_joint_XX=1592;gnomADv4_1_nhomalt_joint_XY=1446;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29407079 chr22_29407079_TTGTG_T;chr22_29407079_TTGTGTGTGTG_T TTGTG T 26 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=26;CADDIndel_PHREDscore=0.876;CADDIndel_Rawscore=-0.052028;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||1/4|ENST00000649455.1:n.75+237_75+240del|||||||rs56270684||1||||||||||||Ensembl||TGTG|TGTG|||34|chr22:g.29407114_29407117del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||2/6|ENST00000650462.1:n.263+237_263+240del|||||||rs56270684||1||||||||||||Ensembl||TGTG|TGTG|||34|chr22:g.29407114_29407117del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-27324_131-27321del|||||||rs56270684||1||||||||||||Ensembl||TGTG|TGTG|||34|chr22:g.29407114_29407117del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs56270684|2111|1||||||||||||Ensembl||TGTG|TGTG||||chr22:g.29407114_29407117del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs56270684|1985|-1||HGNC|HGNC:9978|||||||||Ensembl||TGTG|TGTG||||chr22:g.29407114_29407117del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs56270684|2048|-1||HGNC|HGNC:9978|||||||||Ensembl||TGTG|TGTG||||chr22:g.29407114_29407117del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs56270684|1984|-1||HGNC|HGNC:9978|||||||||Ensembl||TGTG|TGTG||||chr22:g.29407114_29407117del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||2/9|NM_001393612.1:c.-1136+237_-1136+240del|||||||rs56270684||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||TGTG|TGTG|||34|chr22:g.29407114_29407117del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs56270684|1985|-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29407114_29407117del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs56270684|2054|-1||EntrezGene||||||||||RefSeq||TGTG|TGTG||||chr22:g.29407114_29407117del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73986;gnomADv4_1_AC_joint_XX=38236;gnomADv4_1_AC_joint_XY=35750;gnomADv4_1_AF_grpmax_joint=0.677083;gnomADv4_1_AF_joint=0.507372;gnomADv4_1_AF_joint_XX=0.510113;gnomADv4_1_AF_joint_XY=0.504473;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=145822;gnomADv4_1_AN_joint_XX=74956;gnomADv4_1_AN_joint_XY=70866;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=21324;gnomADv4_1_nhomalt_joint_XX=11163;gnomADv4_1_nhomalt_joint_XY=10161;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29407079 chr22_29407079_TTGTG_T;chr22_29407079_TTGTGTGTGTG_T TTGTGTGTGTG T 26 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=19;CADDIndel_PHREDscore=1.051;CADDIndel_Rawscore=-0.004812;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||1/4|ENST00000649455.1:n.75+231_75+240del|||||||rs56270684||1||||||||||||Ensembl||TGTGTGTGTG|TGTGTGTGTG|||28|chr22:g.29407108_29407117del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||2/6|ENST00000650462.1:n.263+231_263+240del|||||||rs56270684||1||||||||||||Ensembl||TGTGTGTGTG|TGTGTGTGTG|||28|chr22:g.29407108_29407117del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-27330_131-27321del|||||||rs56270684||1||||||||||||Ensembl||TGTGTGTGTG|TGTGTGTGTG|||28|chr22:g.29407108_29407117del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs56270684|2105|1||||||||||||Ensembl||TGTGTGTGTG|TGTGTGTGTG||||chr22:g.29407108_29407117del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs56270684|1979|-1||HGNC|HGNC:9978|||||||||Ensembl||TGTGTGTGTG|TGTGTGTGTG||||chr22:g.29407108_29407117del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs56270684|2042|-1||HGNC|HGNC:9978|||||||||Ensembl||TGTGTGTGTG|TGTGTGTGTG||||chr22:g.29407108_29407117del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs56270684|1978|-1||HGNC|HGNC:9978|||||||||Ensembl||TGTGTGTGTG|TGTGTGTGTG||||chr22:g.29407108_29407117del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||2/9|NM_001393612.1:c.-1136+231_-1136+240del|||||||rs56270684||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||TGTGTGTGTG|TGTGTGTGTG|||28|chr22:g.29407108_29407117del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs56270684|1979|-1||EntrezGene||||||||||RefSeq||TGTGTGTGTG|TGTGTGTGTG||||chr22:g.29407108_29407117del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs56270684|2048|-1||EntrezGene||||||||||RefSeq||TGTGTGTGTG|TGTGTGTGTG||||chr22:g.29407108_29407117del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30582;gnomADv4_1_AC_joint_XX=15267;gnomADv4_1_AC_joint_XY=15315;gnomADv4_1_AF_grpmax_joint=0.451239;gnomADv4_1_AF_joint=0.210009;gnomADv4_1_AF_joint_XX=0.203968;gnomADv4_1_AF_joint_XY=0.216399;gnomADv4_1_AN_grpmax_joint=4922;gnomADv4_1_AN_joint=145622;gnomADv4_1_AN_joint_XX=74850;gnomADv4_1_AN_joint_XY=70772;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3560;gnomADv4_1_nhomalt_joint_XX=1742;gnomADv4_1_nhomalt_joint_XY=1818;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29407119 chr22_29407119_G_C G C 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=27;CADD_PHREDscore=2.378;CADD_Rawscore=0.210102;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||1/4|ENST00000649455.1:n.75+242G>C|||||||rs5752909||1||||||||||||Ensembl||G|G||||chr22:g.29407119G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||2/6|ENST00000650462.1:n.263+242G>C|||||||rs5752909||1||||||||||||Ensembl||G|G||||chr22:g.29407119G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-27319G>C|||||||rs5752909||1||||||||||||Ensembl||G|G||||chr22:g.29407119G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs5752909|2075|1||||||||||||Ensembl||G|G||||chr22:g.29407119G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs5752909|1949|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29407119G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs5752909|2012|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29407119G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs5752909|1948|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29407119G>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||2/9|NM_001393612.1:c.-1136+242G>C|||||||rs5752909||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29407119G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs5752909|1949|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29407119G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs5752909|2018|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29407119G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=51932;gnomADv4_1_AC_joint_XX=26142;gnomADv4_1_AC_joint_XY=25790;gnomADv4_1_AF_grpmax_joint=0.556369;gnomADv4_1_AF_joint=0.35004;gnomADv4_1_AF_joint_XX=0.343784;gnomADv4_1_AF_joint_XY=0.356619;gnomADv4_1_AN_grpmax_joint=5056;gnomADv4_1_AN_joint=148360;gnomADv4_1_AN_joint_XX=76042;gnomADv4_1_AN_joint_XY=72318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10380;gnomADv4_1_nhomalt_joint_XX=5267;gnomADv4_1_nhomalt_joint_XY=5113;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29407504 chr22_29407504_A_G A G 49 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.609;CADD_Rawscore=0.106616;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||1/4|ENST00000649455.1:n.75+627A>G|||||||rs5752910||1||||||||||||Ensembl||A|A||||chr22:g.29407504A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||2/6|ENST00000650462.1:n.263+627A>G|||||||rs5752910||1||||||||||||Ensembl||A|A||||chr22:g.29407504A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-26934A>G|||||||rs5752910||1||||||||||||Ensembl||A|A||||chr22:g.29407504A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs5752910|1690|1||||||||||||Ensembl||A|A||||chr22:g.29407504A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs5752910|1564|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29407504A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs5752910|1627|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29407504A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs5752910|1563|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29407504A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||2/9|NM_001393612.1:c.-1136+627A>G|||||||rs5752910||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29407504A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs5752910|1564|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29407504A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs5752910|1633|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29407504A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96500;gnomADv4_1_AC_joint_XX=49409;gnomADv4_1_AC_joint_XY=47091;gnomADv4_1_AF_grpmax_joint=0.877954;gnomADv4_1_AF_joint=0.646974;gnomADv4_1_AF_joint_XX=0.645886;gnomADv4_1_AF_joint_XY=0.648119;gnomADv4_1_AN_grpmax_joint=40288;gnomADv4_1_AN_joint=149156;gnomADv4_1_AN_joint_XX=76498;gnomADv4_1_AN_joint_XY=72658;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=33156;gnomADv4_1_nhomalt_joint_XX=16977;gnomADv4_1_nhomalt_joint_XY=16179;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29407574 chr22_29407574_T_C T C 44 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.944;CADD_Rawscore=-0.032663;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||1/4|ENST00000649455.1:n.75+697T>C|||||||rs3855715||1||||||||||||Ensembl||T|T||||chr22:g.29407574T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||2/6|ENST00000650462.1:n.263+697T>C|||||||rs3855715||1||||||||||||Ensembl||T|T||||chr22:g.29407574T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-26864T>C|||||||rs3855715||1||||||||||||Ensembl||T|T||||chr22:g.29407574T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs3855715|1620|1||||||||||||Ensembl||T|T||||chr22:g.29407574T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs3855715|1494|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29407574T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs3855715|1557|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29407574T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs3855715|1493|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29407574T>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||2/9|NM_001393612.1:c.-1136+697T>C|||||||rs3855715||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29407574T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs3855715|1494|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29407574T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs3855715|1563|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29407574T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=144441;gnomADv4_1_AC_joint_XX=73865;gnomADv4_1_AC_joint_XY=70576;gnomADv4_1_AF_grpmax_joint=0.999225;gnomADv4_1_AF_joint=0.955348;gnomADv4_1_AF_joint_XX=0.955686;gnomADv4_1_AF_joint_XY=0.954994;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151192;gnomADv4_1_AN_joint_XX=77290;gnomADv4_1_AN_joint_XY=73902;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=69047;gnomADv4_1_nhomalt_joint_XX=35316;gnomADv4_1_nhomalt_joint_XY=33731;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29408950 chr22_29408950_C_T C T 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADD_PHREDscore=3.322;CADD_Rawscore=0.304603;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||2/4|ENST00000649455.1:n.140+383C>T|||||||rs11705091||1||||||||||||Ensembl||C|C||||chr22:g.29408950C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||3/6|ENST00000650462.1:n.328+383C>T|||||||rs11705091||1||||||||||||Ensembl||C|C||||chr22:g.29408950C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-25488C>T|||||||rs11705091||1||||||||||||Ensembl||C|C||||chr22:g.29408950C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs11705091|244|1||||||||||||Ensembl||C|C||||chr22:g.29408950C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs11705091|118|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29408950C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs11705091|181|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29408950C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs11705091|117|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29408950C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||3/9|NM_001393612.1:c.-1071+383C>T|||||||rs11705091||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29408950C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs11705091|118|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29408950C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs11705091|187|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29408950C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24851;gnomADv4_1_AC_joint_XX=13013;gnomADv4_1_AC_joint_XY=11838;gnomADv4_1_AF_grpmax_joint=0.208403;gnomADv4_1_AF_joint=0.164044;gnomADv4_1_AF_joint_XX=0.167957;gnomADv4_1_AF_joint_XY=0.159947;gnomADv4_1_AN_grpmax_joint=67950;gnomADv4_1_AN_joint=151490;gnomADv4_1_AN_joint_XX=77478;gnomADv4_1_AN_joint_XY=74012;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2191;gnomADv4_1_nhomalt_joint_XX=1167;gnomADv4_1_nhomalt_joint_XY=1024;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29408961 chr22_29408961_T_TA T TA 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADDIndel_PHREDscore=0.91;CADDIndel_Rawscore=-0.042199;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||2/4|ENST00000649455.1:n.140+397dup|||||||rs61324882||1||||||||||||Ensembl||||||3|chr22:g.29408964dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||3/6|ENST00000650462.1:n.328+397dup|||||||rs61324882||1||||||||||||Ensembl||||||3|chr22:g.29408964dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-25474dup|||||||rs61324882||1||||||||||||Ensembl||||||3|chr22:g.29408964dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs61324882|232|1||||||||||||Ensembl|||||||chr22:g.29408964dup|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs61324882|106|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29408964dup|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs61324882|169|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29408964dup|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs61324882|105|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29408964dup|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||3/9|NM_001393612.1:c.-1071+397dup|||||||rs61324882||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||3|chr22:g.29408964dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs61324882|106|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29408964dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs61324882|175|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29408964dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29838;gnomADv4_1_AC_joint_XX=15622;gnomADv4_1_AC_joint_XY=14216;gnomADv4_1_AF_grpmax_joint=0.233329;gnomADv4_1_AF_joint=0.196414;gnomADv4_1_AF_joint_XX=0.201138;gnomADv4_1_AF_joint_XY=0.191472;gnomADv4_1_AN_grpmax_joint=41388;gnomADv4_1_AN_joint=151914;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74246;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3042;gnomADv4_1_nhomalt_joint_XX=1603;gnomADv4_1_nhomalt_joint_XY=1439;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29409328 chr22_29409328_C_T C T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=2.405;CADD_Rawscore=0.213223;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||2/4|ENST00000649455.1:n.141-246C>T|||||||rs2267144||1||||||||||||Ensembl||C|C||||chr22:g.29409328C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||3/6|ENST00000650462.1:n.329-246C>T|||||||rs2267144||1||||||||||||Ensembl||C|C||||chr22:g.29409328C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-25110C>T|||||||rs2267144||1||||||||||||Ensembl||C|C||||chr22:g.29409328C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA|1/3||ENST00000752285.1:n.135C>T||135|||||rs2267144||1||||||||||||Ensembl||C|C||||chr22:g.29409328C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA|6/6||ENST00000752427.1:n.906G>A||906|||||rs2267144||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29409328C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA|5/5||ENST00000752430.1:n.853G>A||853|||||rs2267144||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29409328C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA|4/4||ENST00000752431.1:n.732G>A||732|||||rs2267144||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29409328C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||3/9|NM_001393612.1:c.-1070-246C>T|||||||rs2267144||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29409328C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA|4/4||XR_007068059.1:n.699G>A||699|||||rs2267144||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29409328C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA|4/4||XR_007068060.1:n.749G>A||749|||||rs2267144||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29409328C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53316;gnomADv4_1_AC_joint_XX=26843;gnomADv4_1_AC_joint_XY=26473;gnomADv4_1_AF_grpmax_joint=0.557276;gnomADv4_1_AF_joint=0.350749;gnomADv4_1_AF_joint_XX=0.345372;gnomADv4_1_AF_joint_XY=0.356376;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10960;gnomADv4_1_nhomalt_joint_XX=5559;gnomADv4_1_nhomalt_joint_XY=5401;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29409418 chr22_29409418_A_G A G 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.821;CADD_Rawscore=0.139191;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||2/4|ENST00000649455.1:n.141-156A>G|||||||rs2267145||1||||||||||||Ensembl||A|A||||chr22:g.29409418A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||3/6|ENST00000650462.1:n.329-156A>G|||||||rs2267145||1||||||||||||Ensembl||A|A||||chr22:g.29409418A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-25020A>G|||||||rs2267145||1||||||||||||Ensembl||A|A||||chr22:g.29409418A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA|1/3||ENST00000752285.1:n.225A>G||225|||||rs2267145||1||||||||||||Ensembl||A|A||||chr22:g.29409418A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA|6/6||ENST00000752427.1:n.816T>C||816|||||rs2267145||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29409418A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA|5/5||ENST00000752430.1:n.763T>C||763|||||rs2267145||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29409418A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA|4/4||ENST00000752431.1:n.642T>C||642|||||rs2267145||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29409418A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||3/9|NM_001393612.1:c.-1070-156A>G|||||||rs2267145||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29409418A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA|4/4||XR_007068059.1:n.609T>C||609|||||rs2267145||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29409418A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA|4/4||XR_007068060.1:n.659T>C||659|||||rs2267145||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29409418A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=99151;gnomADv4_1_AC_joint_XX=50613;gnomADv4_1_AC_joint_XY=48538;gnomADv4_1_AF_grpmax_joint=0.881563;gnomADv4_1_AF_joint=0.652223;gnomADv4_1_AF_joint_XX=0.651206;gnomADv4_1_AF_joint_XY=0.653288;gnomADv4_1_AN_grpmax_joint=41482;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=34237;gnomADv4_1_nhomalt_joint_XX=17486;gnomADv4_1_nhomalt_joint_XY=16751;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29409878 chr22_29409878_T_C T C 57 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.813;CADD_Rawscore=-0.071149;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||3/4|ENST00000649455.1:n.205+240T>C|||||||rs1963292||1||||||||||||Ensembl||T|T||||chr22:g.29409878T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||4/6|ENST00000650462.1:n.393+240T>C|||||||rs1963292||1||||||||||||Ensembl||T|T||||chr22:g.29409878T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-24560T>C|||||||rs1963292||1||||||||||||Ensembl||T|T||||chr22:g.29409878T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||1/2|ENST00000752285.1:n.445+240T>C|||||||rs1963292||1||||||||||||Ensembl||T|T||||chr22:g.29409878T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||5/5|ENST00000752427.1:n.577-221A>G|||||||rs1963292||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29409878T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||4/4|ENST00000752430.1:n.524-221A>G|||||||rs1963292||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29409878T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||3/3|ENST00000752431.1:n.403-221A>G|||||||rs1963292||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29409878T>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||4/9|NM_001393612.1:c.-1006+240T>C|||||||rs1963292||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29409878T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||3/3|XR_007068059.1:n.370-221A>G|||||||rs1963292||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29409878T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||3/3|XR_007068060.1:n.420-221A>G|||||||rs1963292||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29409878T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98981;gnomADv4_1_AC_joint_XX=50525;gnomADv4_1_AC_joint_XY=48456;gnomADv4_1_AF_grpmax_joint=0.880588;gnomADv4_1_AF_joint=0.651165;gnomADv4_1_AF_joint_XX=0.650157;gnomADv4_1_AF_joint_XY=0.65222;gnomADv4_1_AN_grpmax_joint=41470;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=34121;gnomADv4_1_nhomalt_joint_XX=17428;gnomADv4_1_nhomalt_joint_XY=16693;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29410233 chr22_29410233_A_C A C 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=0.762;CADD_Rawscore=-0.087305;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||4/4|ENST00000649455.1:n.233+29A>C|||||||rs5763214||1||||||||||||Ensembl||A|A||||chr22:g.29410233A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||5/6|ENST00000650462.1:n.421+29A>C|||||||rs5763214||1||||||||||||Ensembl||A|A||||chr22:g.29410233A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-24205A>C|||||||rs5763214||1||||||||||||Ensembl||A|A||||chr22:g.29410233A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||1/2|ENST00000752285.1:n.446-465A>C|||||||rs5763214||1||||||||||||Ensembl||A|A||||chr22:g.29410233A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||5/5|ENST00000752427.1:n.577-576T>G|||||||rs5763214||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29410233A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||4/4|ENST00000752430.1:n.524-576T>G|||||||rs5763214||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29410233A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||3/3|ENST00000752431.1:n.403-576T>G|||||||rs5763214||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29410233A>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||5/9|NM_001393612.1:c.-978+29A>C|||||||rs5763214||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29410233A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||3/3|XR_007068059.1:n.370-576T>G|||||||rs5763214||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29410233A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||3/3|XR_007068060.1:n.420-576T>G|||||||rs5763214||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29410233A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11609;gnomADv4_1_AC_joint_XX=6070;gnomADv4_1_AC_joint_XY=5539;gnomADv4_1_AF_grpmax_joint=0.222474;gnomADv4_1_AF_joint=0.0857576;gnomADv4_1_AF_joint_XX=0.0861115;gnomADv4_1_AF_joint_XY=0.085373;gnomADv4_1_AN_grpmax_joint=4850;gnomADv4_1_AN_joint=135370;gnomADv4_1_AN_joint_XX=70490;gnomADv4_1_AN_joint_XY=64880;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=582;gnomADv4_1_nhomalt_joint_XX=299;gnomADv4_1_nhomalt_joint_XY=283;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29410285 chr22_29410285_T_TATATATGTAGATATATATCTATATATAG T TATATATGTAGATATATATCTATATATAG 21 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=21;CADDIndel_PHREDscore=0.485;CADDIndel_Rawscore=-0.200549;CSQ=ATATATGTAGATATATATCTATATATAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||4/4|ENST00000649455.1:n.233+87_233+88insGTAGATATATATCTATATATAGATATAT|||||||rs1569175607||1||||||||||||Ensembl||||||6|chr22:g.29410291_29410292insGTAGATATATATCTATATATAGATATAT|||||||||||||,ATATATGTAGATATATATCTATATATAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||5/6|ENST00000650462.1:n.421+87_421+88insGTAGATATATATCTATATATAGATATAT|||||||rs1569175607||1||||||||||||Ensembl||||||6|chr22:g.29410291_29410292insGTAGATATATATCTATATATAGATATAT|||||||||||||,ATATATGTAGATATATATCTATATATAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-24147_131-24146insGTAGATATATATCTATATATAGATATAT|||||||rs1569175607||1||||||||||||Ensembl||||||6|chr22:g.29410291_29410292insGTAGATATATATCTATATATAGATATAT|||||||||||||,ATATATGTAGATATATATCTATATATAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||1/2|ENST00000752285.1:n.446-407_446-406insGTAGATATATATCTATATATAGATATAT|||||||rs1569175607||1||||||||||||Ensembl||||||6|chr22:g.29410291_29410292insGTAGATATATATCTATATATAGATATAT|||||||||||||,ATATATGTAGATATATATCTATATATAG|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||5/5|ENST00000752427.1:n.577-629_577-628insCTATATATAGATATATATCTACATATAT|||||||rs1569175607||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410291_29410292insGTAGATATATATCTATATATAGATATAT|||||||||||||,ATATATGTAGATATATATCTATATATAG|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||4/4|ENST00000752430.1:n.524-629_524-628insCTATATATAGATATATATCTACATATAT|||||||rs1569175607||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410291_29410292insGTAGATATATATCTATATATAGATATAT|||||||||||||,ATATATGTAGATATATATCTATATATAG|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||3/3|ENST00000752431.1:n.403-629_403-628insCTATATATAGATATATATCTACATATAT|||||||rs1569175607||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410291_29410292insGTAGATATATATCTATATATAGATATAT|||||||||||||,ATATATGTAGATATATATCTATATATAG|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||5/9|NM_001393612.1:c.-978+87_-978+88insGTAGATATATATCTATATATAGATATAT|||||||rs1569175607||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||6|chr22:g.29410291_29410292insGTAGATATATATCTATATATAGATATAT|||||||||||||,ATATATGTAGATATATATCTATATATAG|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||3/3|XR_007068059.1:n.370-629_370-628insCTATATATAGATATATATCTACATATAT|||||||rs1569175607||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29410291_29410292insGTAGATATATATCTATATATAGATATAT|||||||||||||,ATATATGTAGATATATATCTATATATAG|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||3/3|XR_007068060.1:n.420-629_420-628insCTATATATAGATATATATCTACATATAT|||||||rs1569175607||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29410291_29410292insGTAGATATATATCTATATATAGATATAT|||||||||||||;TYPE=INDEL;VEP_Allele=ATATATGTAGATATATATCTATATATAG,ATATATGTAGATATATATCTATATATAG,ATATATGTAGATATATATCTATATATAG,ATATATGTAGATATATATCTATATATAG,ATATATGTAGATATATATCTATATATAG,ATATATGTAGATATATATCTATATATAG,ATATATGTAGATATATATCTATATATAG,ATATATGTAGATATATATCTATATATAG,ATATATGTAGATATATATCTATATATAG,ATATATGTAGATATATATCTATATATAG;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=890;gnomADv4_1_AC_joint_XX=430;gnomADv4_1_AC_joint_XY=460;gnomADv4_1_AF_grpmax_joint=0.046798;gnomADv4_1_AF_joint=0.00912708;gnomADv4_1_AF_joint_XX=0.00820861;gnomADv4_1_AF_joint_XY=0.0101932;gnomADv4_1_AN_grpmax_joint=2030;gnomADv4_1_AN_joint=97512;gnomADv4_1_AN_joint_XX=52384;gnomADv4_1_AN_joint_XY=45128;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=82;gnomADv4_1_nhomalt_joint_XX=34;gnomADv4_1_nhomalt_joint_XY=48;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29410303 chr22_29410303_T_TAG T TAG 22 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=22;CADDIndel_PHREDscore=1.429;CADDIndel_Rawscore=0.075301;CSQ=AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||4/4|ENST00000649455.1:n.233+100_233+101insGA|||||||rs1303192828||1||||||||||||Ensembl||||||1|chr22:g.29410304_29410305insGA|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||5/6|ENST00000650462.1:n.421+100_421+101insGA|||||||rs1303192828||1||||||||||||Ensembl||||||1|chr22:g.29410304_29410305insGA|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-24134_131-24133insGA|||||||rs1303192828||1||||||||||||Ensembl||||||1|chr22:g.29410304_29410305insGA|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||1/2|ENST00000752285.1:n.446-394_446-393insGA|||||||rs1303192828||1||||||||||||Ensembl||||||1|chr22:g.29410304_29410305insGA|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||5/5|ENST00000752427.1:n.577-647_577-646insCT|||||||rs1303192828||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410304_29410305insGA|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||4/4|ENST00000752430.1:n.524-647_524-646insCT|||||||rs1303192828||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410304_29410305insGA|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||3/3|ENST00000752431.1:n.403-647_403-646insCT|||||||rs1303192828||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410304_29410305insGA|||||||||||||,AG|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||5/9|NM_001393612.1:c.-978+100_-978+101insGA|||||||rs1303192828||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||1|chr22:g.29410304_29410305insGA|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||3/3|XR_007068059.1:n.370-647_370-646insCT|||||||rs1303192828||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29410304_29410305insGA|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||3/3|XR_007068060.1:n.420-647_420-646insCT|||||||rs1303192828||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29410304_29410305insGA|||||||||||||;TYPE=INDEL;VEP_Allele=AG,AG,AG,AG,AG,AG,AG,AG,AG,AG;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=990;gnomADv4_1_AC_joint_XX=484;gnomADv4_1_AC_joint_XY=506;gnomADv4_1_AF_grpmax_joint=0.0340368;gnomADv4_1_AF_joint=0.00980839;gnomADv4_1_AF_joint_XX=0.00896429;gnomADv4_1_AF_joint_XY=0.0107793;gnomADv4_1_AN_grpmax_joint=2938;gnomADv4_1_AN_joint=100934;gnomADv4_1_AN_joint_XX=53992;gnomADv4_1_AN_joint_XY=46942;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=81;gnomADv4_1_nhomalt_joint_XX=32;gnomADv4_1_nhomalt_joint_XY=49;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29410323 chr22_29410323_TA_T TA T 24 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=24;CADDIndel_PHREDscore=2.47;CADDIndel_Rawscore=0.220403;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||4/4|ENST00000649455.1:n.233+120del|||||||rs1223560526||1||||||||||||Ensembl||A|A||||chr22:g.29410324del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||5/6|ENST00000650462.1:n.421+120del|||||||rs1223560526||1||||||||||||Ensembl||A|A||||chr22:g.29410324del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-24114del|||||||rs1223560526||1||||||||||||Ensembl||A|A||||chr22:g.29410324del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||1/2|ENST00000752285.1:n.446-374del|||||||rs1223560526||1||||||||||||Ensembl||A|A||||chr22:g.29410324del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||5/5|ENST00000752427.1:n.576+632del|||||||rs1223560526||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29410324del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||4/4|ENST00000752430.1:n.523+632del|||||||rs1223560526||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29410324del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||3/3|ENST00000752431.1:n.402+632del|||||||rs1223560526||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29410324del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||5/9|NM_001393612.1:c.-978+120del|||||||rs1223560526||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29410324del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||3/3|XR_007068059.1:n.369+632del|||||||rs1223560526||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29410324del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||3/3|XR_007068060.1:n.419+632del|||||||rs1223560526||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29410324del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1337;gnomADv4_1_AC_joint_XX=683;gnomADv4_1_AC_joint_XY=654;gnomADv4_1_AF_grpmax_joint=0.0443081;gnomADv4_1_AF_joint=0.0134469;gnomADv4_1_AF_joint_XX=0.0128601;gnomADv4_1_AF_joint_XY=0.0141198;gnomADv4_1_AN_grpmax_joint=2934;gnomADv4_1_AN_joint=99428;gnomADv4_1_AN_joint_XX=53110;gnomADv4_1_AN_joint_XY=46318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=83;gnomADv4_1_nhomalt_joint_XX=31;gnomADv4_1_nhomalt_joint_XY=52;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29410337 chr22_29410337_G_T G T 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=32;CADD_PHREDscore=1.165;CADD_Rawscore=0.021834;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||4/4|ENST00000649455.1:n.233+133G>T|||||||rs12157390||1||||||||||||Ensembl||G|G||||chr22:g.29410337G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||5/6|ENST00000650462.1:n.421+133G>T|||||||rs12157390||1||||||||||||Ensembl||G|G||||chr22:g.29410337G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-24101G>T|||||||rs12157390||1||||||||||||Ensembl||G|G||||chr22:g.29410337G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||1/2|ENST00000752285.1:n.446-361G>T|||||||rs12157390||1||||||||||||Ensembl||G|G||||chr22:g.29410337G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||5/5|ENST00000752427.1:n.576+619C>A|||||||rs12157390||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29410337G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||4/4|ENST00000752430.1:n.523+619C>A|||||||rs12157390||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29410337G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||3/3|ENST00000752431.1:n.402+619C>A|||||||rs12157390||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29410337G>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||5/9|NM_001393612.1:c.-978+133G>T|||||||rs12157390||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29410337G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||3/3|XR_007068059.1:n.369+619C>A|||||||rs12157390||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29410337G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||3/3|XR_007068060.1:n.419+619C>A|||||||rs12157390||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29410337G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1835;gnomADv4_1_AC_joint_XX=1004;gnomADv4_1_AC_joint_XY=831;gnomADv4_1_AF_grpmax_joint=0.0870787;gnomADv4_1_AF_joint=0.02933;gnomADv4_1_AF_joint_XX=0.0295173;gnomADv4_1_AF_joint_XY=0.0291068;gnomADv4_1_AN_grpmax_joint=1780;gnomADv4_1_AN_joint=62564;gnomADv4_1_AN_joint_XX=34014;gnomADv4_1_AN_joint_XY=28550;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=89;gnomADv4_1_nhomalt_joint_XX=40;gnomADv4_1_nhomalt_joint_XY=49;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29410356 chr22_29410356_A_ATAT A ATAT 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADDIndel_PHREDscore=2.16;CADDIndel_Rawscore=0.184356;CSQ=TAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||4/4|ENST00000649455.1:n.233+153_233+154insATT|||||||rs568553147||1||||||||||||Ensembl||||||1|chr22:g.29410357_29410358insATT|||||||||||||,TAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||5/6|ENST00000650462.1:n.421+153_421+154insATT|||||||rs568553147||1||||||||||||Ensembl||||||1|chr22:g.29410357_29410358insATT|||||||||||||,TAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-24081_131-24080insATT|||||||rs568553147||1||||||||||||Ensembl||||||1|chr22:g.29410357_29410358insATT|||||||||||||,TAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||1/2|ENST00000752285.1:n.446-341_446-340insATT|||||||rs568553147||1||||||||||||Ensembl||||||1|chr22:g.29410357_29410358insATT|||||||||||||,TAT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||5/5|ENST00000752427.1:n.576+599_576+600insATA|||||||rs568553147||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410357_29410358insATT|||||||||||||,TAT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||4/4|ENST00000752430.1:n.523+599_523+600insATA|||||||rs568553147||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410357_29410358insATT|||||||||||||,TAT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||3/3|ENST00000752431.1:n.402+599_402+600insATA|||||||rs568553147||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410357_29410358insATT|||||||||||||,TAT|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||5/9|NM_001393612.1:c.-978+153_-978+154insATT|||||||rs568553147||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||1|chr22:g.29410357_29410358insATT|||||||||||||,TAT|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||3/3|XR_007068059.1:n.369+599_369+600insATA|||||||rs568553147||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29410357_29410358insATT|||||||||||||,TAT|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||3/3|XR_007068060.1:n.419+599_419+600insATA|||||||rs568553147||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29410357_29410358insATT|||||||||||||;TYPE=INDEL;VEP_Allele=TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2304;gnomADv4_1_AC_joint_XX=1319;gnomADv4_1_AC_joint_XY=985;gnomADv4_1_AF_grpmax_joint=0.110092;gnomADv4_1_AF_joint=0.0335166;gnomADv4_1_AF_joint_XX=0.0343043;gnomADv4_1_AF_joint_XY=0.0325168;gnomADv4_1_AN_grpmax_joint=1744;gnomADv4_1_AN_joint=68742;gnomADv4_1_AN_joint_XX=38450;gnomADv4_1_AN_joint_XY=30292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=108;gnomADv4_1_nhomalt_joint_XX=65;gnomADv4_1_nhomalt_joint_XY=43;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29410372 chr22_29410372_CTA_C CTA C 31 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=31;CADDIndel_PHREDscore=1.799;CADDIndel_Rawscore=0.135981;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||4/4|ENST00000649455.1:n.233+177_233+178del|||||||rs67982243||1||||||||||||Ensembl||TA|TA|||8|chr22:g.29410381_29410382del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||5/6|ENST00000650462.1:n.421+177_421+178del|||||||rs67982243||1||||||||||||Ensembl||TA|TA|||8|chr22:g.29410381_29410382del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-24057_131-24056del|||||||rs67982243||1||||||||||||Ensembl||TA|TA|||8|chr22:g.29410381_29410382del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||1/2|ENST00000752285.1:n.446-317_446-316del|||||||rs67982243||1||||||||||||Ensembl||TA|TA|||8|chr22:g.29410381_29410382del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||5/5|ENST00000752427.1:n.576+582_576+583del|||||||rs67982243||-1||HGNC|HGNC:9978|||||||||Ensembl||TA|TA||||chr22:g.29410381_29410382del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||4/4|ENST00000752430.1:n.523+582_523+583del|||||||rs67982243||-1||HGNC|HGNC:9978|||||||||Ensembl||TA|TA||||chr22:g.29410381_29410382del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||3/3|ENST00000752431.1:n.402+582_402+583del|||||||rs67982243||-1||HGNC|HGNC:9978|||||||||Ensembl||TA|TA||||chr22:g.29410381_29410382del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||5/9|NM_001393612.1:c.-978+177_-978+178del|||||||rs67982243||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||TA|TA|||8|chr22:g.29410381_29410382del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||3/3|XR_007068059.1:n.369+582_369+583del|||||||rs67982243||-1||EntrezGene||||||||||RefSeq||TA|TA||||chr22:g.29410381_29410382del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||3/3|XR_007068060.1:n.419+582_419+583del|||||||rs67982243||-1||EntrezGene||||||||||RefSeq||TA|TA||||chr22:g.29410381_29410382del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18877;gnomADv4_1_AC_joint_XX=10785;gnomADv4_1_AC_joint_XY=8092;gnomADv4_1_AF_grpmax_joint=0.402626;gnomADv4_1_AF_joint=0.320362;gnomADv4_1_AF_joint_XX=0.32528;gnomADv4_1_AF_joint_XY=0.314033;gnomADv4_1_AN_grpmax_joint=9674;gnomADv4_1_AN_joint=58924;gnomADv4_1_AN_joint_XX=33156;gnomADv4_1_AN_joint_XY=25768;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3548;gnomADv4_1_nhomalt_joint_XX=2006;gnomADv4_1_nhomalt_joint_XY=1542;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29410407 chr22_29410407_C_A C A 25 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=25;CADD_PHREDscore=2.643;CADD_Rawscore=0.238904;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||4/4|ENST00000649455.1:n.233+203C>A|||||||rs182634703||1||||||||||||Ensembl||C|C||||chr22:g.29410407C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||5/6|ENST00000650462.1:n.421+203C>A|||||||rs182634703||1||||||||||||Ensembl||C|C||||chr22:g.29410407C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-24031C>A|||||||rs182634703||1||||||||||||Ensembl||C|C||||chr22:g.29410407C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||1/2|ENST00000752285.1:n.446-291C>A|||||||rs182634703||1||||||||||||Ensembl||C|C||||chr22:g.29410407C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||5/5|ENST00000752427.1:n.576+549G>T|||||||rs182634703||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29410407C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||4/4|ENST00000752430.1:n.523+549G>T|||||||rs182634703||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29410407C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||3/3|ENST00000752431.1:n.402+549G>T|||||||rs182634703||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29410407C>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||5/9|NM_001393612.1:c.-978+203C>A|||||||rs182634703||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29410407C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||3/3|XR_007068059.1:n.369+549G>T|||||||rs182634703||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29410407C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||3/3|XR_007068060.1:n.419+549G>T|||||||rs182634703||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29410407C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6410;gnomADv4_1_AC_joint_XX=3775;gnomADv4_1_AC_joint_XY=2635;gnomADv4_1_AF_grpmax_joint=0.381549;gnomADv4_1_AF_joint=0.152684;gnomADv4_1_AF_joint_XX=0.16012;gnomADv4_1_AF_joint_XY=0.14316;gnomADv4_1_AN_grpmax_joint=878;gnomADv4_1_AN_joint=41982;gnomADv4_1_AN_joint_XX=23576;gnomADv4_1_AN_joint_XY=18406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=779;gnomADv4_1_nhomalt_joint_XX=481;gnomADv4_1_nhomalt_joint_XY=298;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29410409 chr22_29410409_A_C A C 20 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=20;CADD_PHREDscore=4.071;CADD_Rawscore=0.371504;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||4/4|ENST00000649455.1:n.233+205A>C|||||||rs187197576||1||||||||||||Ensembl||A|A||||chr22:g.29410409A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||5/6|ENST00000650462.1:n.421+205A>C|||||||rs187197576||1||||||||||||Ensembl||A|A||||chr22:g.29410409A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-24029A>C|||||||rs187197576||1||||||||||||Ensembl||A|A||||chr22:g.29410409A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||1/2|ENST00000752285.1:n.446-289A>C|||||||rs187197576||1||||||||||||Ensembl||A|A||||chr22:g.29410409A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||5/5|ENST00000752427.1:n.576+547T>G|||||||rs187197576||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29410409A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||4/4|ENST00000752430.1:n.523+547T>G|||||||rs187197576||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29410409A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||3/3|ENST00000752431.1:n.402+547T>G|||||||rs187197576||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29410409A>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||5/9|NM_001393612.1:c.-978+205A>C|||||||rs187197576||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29410409A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||3/3|XR_007068059.1:n.369+547T>G|||||||rs187197576||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29410409A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||3/3|XR_007068060.1:n.419+547T>G|||||||rs187197576||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29410409A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5647;gnomADv4_1_AC_joint_XX=3322;gnomADv4_1_AC_joint_XY=2325;gnomADv4_1_AF_grpmax_joint=0.285714;gnomADv4_1_AF_joint=0.121509;gnomADv4_1_AF_joint_XX=0.129867;gnomADv4_1_AF_joint_XY=0.111276;gnomADv4_1_AN_grpmax_joint=840;gnomADv4_1_AN_joint=46474;gnomADv4_1_AN_joint_XX=25580;gnomADv4_1_AN_joint_XY=20894;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=562;gnomADv4_1_nhomalt_joint_XX=357;gnomADv4_1_nhomalt_joint_XY=205;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29410427 chr22_29410427_AT_A AT A 17 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=17;CADDIndel_PHREDscore=0.884;CADDIndel_Rawscore=-0.049735;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||4/4|ENST00000649455.1:n.233+225del|||||||rs761047470||1||||||||||||Ensembl||T|T|||1|chr22:g.29410429del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||5/6|ENST00000650462.1:n.421+225del|||||||rs761047470||1||||||||||||Ensembl||T|T|||1|chr22:g.29410429del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-24009del|||||||rs761047470||1||||||||||||Ensembl||T|T|||1|chr22:g.29410429del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||1/2|ENST00000752285.1:n.446-269del|||||||rs761047470||1||||||||||||Ensembl||T|T|||1|chr22:g.29410429del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||5/5|ENST00000752427.1:n.576+528del|||||||rs761047470||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29410429del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||4/4|ENST00000752430.1:n.523+528del|||||||rs761047470||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29410429del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||3/3|ENST00000752431.1:n.402+528del|||||||rs761047470||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29410429del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||5/9|NM_001393612.1:c.-978+225del|||||||rs761047470||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T|||1|chr22:g.29410429del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||3/3|XR_007068059.1:n.369+528del|||||||rs761047470||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29410429del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||3/3|XR_007068060.1:n.419+528del|||||||rs761047470||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29410429del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5115;gnomADv4_1_AC_joint_XX=3012;gnomADv4_1_AC_joint_XY=2103;gnomADv4_1_AF_grpmax_joint=0.219048;gnomADv4_1_AF_joint=0.0981502;gnomADv4_1_AF_joint_XX=0.103662;gnomADv4_1_AF_joint_XY=0.0912048;gnomADv4_1_AN_grpmax_joint=1260;gnomADv4_1_AN_joint=52114;gnomADv4_1_AN_joint_XX=29056;gnomADv4_1_AN_joint_XY=23058;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=402;gnomADv4_1_nhomalt_joint_XX=264;gnomADv4_1_nhomalt_joint_XY=138;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29410506 chr22_29410506_G_GAGAGATATATATTGTAGATATATATATCTACTATATAT G GAGAGATATATATTGTAGATATATATATCTACTATATAT 22 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=22;CADDIndel_PHREDscore=0.104;CADDIndel_Rawscore=-0.599999;CSQ=AGAGATATATATTGTAGATATATATATCTACTATATAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||4/4|ENST00000649455.1:n.234-164_234-127dup|||||||rs1413629655||1||||||||||||Ensembl||||||65|chr22:g.29410532_29410569dup|||||||||||||,AGAGATATATATTGTAGATATATATATCTACTATATAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||5/6|ENST00000650462.1:n.422-164_422-127dup|||||||rs1413629655||1||||||||||||Ensembl||||||65|chr22:g.29410532_29410569dup|||||||||||||,AGAGATATATATTGTAGATATATATATCTACTATATAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-23904_131-23867dup|||||||rs1413629655||1||||||||||||Ensembl||||||65|chr22:g.29410532_29410569dup|||||||||||||,AGAGATATATATTGTAGATATATATATCTACTATATAT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||1/2|ENST00000752285.1:n.446-164_446-127dup|||||||rs1413629655||1||||||||||||Ensembl||||||65|chr22:g.29410532_29410569dup|||||||||||||,AGAGATATATATTGTAGATATATATATCTACTATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||5/5|ENST00000752427.1:n.576+412_576+449dup|||||||rs1413629655||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410532_29410569dup|||||||||||||,AGAGATATATATTGTAGATATATATATCTACTATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||4/4|ENST00000752430.1:n.523+412_523+449dup|||||||rs1413629655||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410532_29410569dup|||||||||||||,AGAGATATATATTGTAGATATATATATCTACTATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||3/3|ENST00000752431.1:n.402+412_402+449dup|||||||rs1413629655||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410532_29410569dup|||||||||||||,AGAGATATATATTGTAGATATATATATCTACTATATAT|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||5/9|NM_001393612.1:c.-977-164_-977-127dup|||||||rs1413629655||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||65|chr22:g.29410532_29410569dup|||||||||||||,AGAGATATATATTGTAGATATATATATCTACTATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||3/3|XR_007068059.1:n.369+412_369+449dup|||||||rs1413629655||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29410532_29410569dup|||||||||||||,AGAGATATATATTGTAGATATATATATCTACTATATAT|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||3/3|XR_007068060.1:n.419+412_419+449dup|||||||rs1413629655||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29410532_29410569dup|||||||||||||;TYPE=INDEL;VEP_Allele=AGAGATATATATTGTAGATATATATATCTACTATATAT,AGAGATATATATTGTAGATATATATATCTACTATATAT,AGAGATATATATTGTAGATATATATATCTACTATATAT,AGAGATATATATTGTAGATATATATATCTACTATATAT,AGAGATATATATTGTAGATATATATATCTACTATATAT,AGAGATATATATTGTAGATATATATATCTACTATATAT,AGAGATATATATTGTAGATATATATATCTACTATATAT,AGAGATATATATTGTAGATATATATATCTACTATATAT,AGAGATATATATTGTAGATATATATATCTACTATATAT,AGAGATATATATTGTAGATATATATATCTACTATATAT;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7715;gnomADv4_1_AC_joint_XX=4566;gnomADv4_1_AC_joint_XY=3149;gnomADv4_1_AF_grpmax_joint=0.285181;gnomADv4_1_AF_joint=0.122057;gnomADv4_1_AF_joint_XX=0.12948;gnomADv4_1_AF_joint_XY=0.11269;gnomADv4_1_AN_grpmax_joint=1606;gnomADv4_1_AN_joint=63208;gnomADv4_1_AN_joint_XX=35264;gnomADv4_1_AN_joint_XY=27944;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1432;gnomADv4_1_nhomalt_joint_XX=841;gnomADv4_1_nhomalt_joint_XY=591;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29410573 chr22_29410573_G_GTAGATATATCTATCTATATATAGATATATA G GTAGATATATCTATCTATATATAGATATATA 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=19;CADDIndel_PHREDscore=0.344;CADDIndel_Rawscore=-0.287222;CSQ=TAGATATATCTATCTATATATAGATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||4/4|ENST00000649455.1:n.234-98_234-69dup|||||||rs1256241906||1||||||||||||Ensembl||||||56|chr22:g.29410600_29410629dup|||||||||||||,TAGATATATCTATCTATATATAGATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||5/6|ENST00000650462.1:n.422-98_422-69dup|||||||rs1256241906||1||||||||||||Ensembl||||||56|chr22:g.29410600_29410629dup|||||||||||||,TAGATATATCTATCTATATATAGATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-23838_131-23809dup|||||||rs1256241906||1||||||||||||Ensembl||||||56|chr22:g.29410600_29410629dup|||||||||||||,TAGATATATCTATCTATATATAGATATATA|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||1/2|ENST00000752285.1:n.446-98_446-69dup|||||||rs1256241906||1||||||||||||Ensembl||||||56|chr22:g.29410600_29410629dup|||||||||||||,TAGATATATCTATCTATATATAGATATATA|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||5/5|ENST00000752427.1:n.576+353_576+382dup|||||||rs1256241906||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410600_29410629dup|||||||||||||,TAGATATATCTATCTATATATAGATATATA|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||4/4|ENST00000752430.1:n.523+353_523+382dup|||||||rs1256241906||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410600_29410629dup|||||||||||||,TAGATATATCTATCTATATATAGATATATA|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||3/3|ENST00000752431.1:n.402+353_402+382dup|||||||rs1256241906||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410600_29410629dup|||||||||||||,TAGATATATCTATCTATATATAGATATATA|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||5/9|NM_001393612.1:c.-977-98_-977-69dup|||||||rs1256241906||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||56|chr22:g.29410600_29410629dup|||||||||||||,TAGATATATCTATCTATATATAGATATATA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||3/3|XR_007068059.1:n.369+353_369+382dup|||||||rs1256241906||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29410600_29410629dup|||||||||||||,TAGATATATCTATCTATATATAGATATATA|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||3/3|XR_007068060.1:n.419+353_419+382dup|||||||rs1256241906||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29410600_29410629dup|||||||||||||;TYPE=INDEL;VEP_Allele=TAGATATATCTATCTATATATAGATATATA,TAGATATATCTATCTATATATAGATATATA,TAGATATATCTATCTATATATAGATATATA,TAGATATATCTATCTATATATAGATATATA,TAGATATATCTATCTATATATAGATATATA,TAGATATATCTATCTATATATAGATATATA,TAGATATATCTATCTATATATAGATATATA,TAGATATATCTATCTATATATAGATATATA,TAGATATATCTATCTATATATAGATATATA,TAGATATATCTATCTATATATAGATATATA;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3946;gnomADv4_1_AC_joint_XX=2284;gnomADv4_1_AC_joint_XY=1662;gnomADv4_1_AF_grpmax_joint=0.125;gnomADv4_1_AF_joint=0.0922394;gnomADv4_1_AF_joint_XX=0.0992353;gnomADv4_1_AF_joint_XY=0.0840923;gnomADv4_1_AN_grpmax_joint=72;gnomADv4_1_AN_joint=42780;gnomADv4_1_AN_joint_XX=23016;gnomADv4_1_AN_joint_XY=19764;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=313;gnomADv4_1_nhomalt_joint_XX=187;gnomADv4_1_nhomalt_joint_XY=126;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29410603 chr22_29410603_A_ATAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG A ATAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG 21 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=21;CSQ=TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||4/4|ENST00000649455.1:n.234-69_234-68insTATCTATCTATATATAGATAGATATATTGTAGATATATCTATCTATATATAGATA|||||||rs1569176181||1||||||||||||Ensembl||||||26|chr22:g.29410629_29410630insTATCTATCTATATATAGATAGATATATTGTAGATATATCTATCTATATATAGATA|||||||||||||,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||5/6|ENST00000650462.1:n.422-69_422-68insTATCTATCTATATATAGATAGATATATTGTAGATATATCTATCTATATATAGATA|||||||rs1569176181||1||||||||||||Ensembl||||||26|chr22:g.29410629_29410630insTATCTATCTATATATAGATAGATATATTGTAGATATATCTATCTATATATAGATA|||||||||||||,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-23809_131-23808insTATCTATCTATATATAGATAGATATATTGTAGATATATCTATCTATATATAGATA|||||||rs1569176181||1||||||||||||Ensembl||||||26|chr22:g.29410629_29410630insTATCTATCTATATATAGATAGATATATTGTAGATATATCTATCTATATATAGATA|||||||||||||,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||1/2|ENST00000752285.1:n.446-69_446-68insTATCTATCTATATATAGATAGATATATTGTAGATATATCTATCTATATATAGATA|||||||rs1569176181||1||||||||||||Ensembl||||||26|chr22:g.29410629_29410630insTATCTATCTATATATAGATAGATATATTGTAGATATATCTATCTATATATAGATA|||||||||||||,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||5/5|ENST00000752427.1:n.576+352_576+353insCAATATATCTATCTATATATAGATAGATATATCTATATATAGATAGATATATCTA|||||||rs1569176181||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410629_29410630insTATCTATCTATATATAGATAGATATATTGTAGATATATCTATCTATATATAGATA|||||||||||||,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||4/4|ENST00000752430.1:n.523+352_523+353insCAATATATCTATCTATATATAGATAGATATATCTATATATAGATAGATATATCTA|||||||rs1569176181||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410629_29410630insTATCTATCTATATATAGATAGATATATTGTAGATATATCTATCTATATATAGATA|||||||||||||,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||3/3|ENST00000752431.1:n.402+352_402+353insCAATATATCTATCTATATATAGATAGATATATCTATATATAGATAGATATATCTA|||||||rs1569176181||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29410629_29410630insTATCTATCTATATATAGATAGATATATTGTAGATATATCTATCTATATATAGATA|||||||||||||,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||5/9|NM_001393612.1:c.-977-69_-977-68insTATCTATCTATATATAGATAGATATATTGTAGATATATCTATCTATATATAGATA|||||||rs1569176181||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||26|chr22:g.29410629_29410630insTATCTATCTATATATAGATAGATATATTGTAGATATATCTATCTATATATAGATA|||||||||||||,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||3/3|XR_007068059.1:n.369+352_369+353insCAATATATCTATCTATATATAGATAGATATATCTATATATAGATAGATATATCTA|||||||rs1569176181||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29410629_29410630insTATCTATCTATATATAGATAGATATATTGTAGATATATCTATCTATATATAGATA|||||||||||||,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||3/3|XR_007068060.1:n.419+352_419+353insCAATATATCTATCTATATATAGATAGATATATCTATATATAGATAGATATATCTA|||||||rs1569176181||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29410629_29410630insTATCTATCTATATATAGATAGATATATTGTAGATATATCTATCTATATATAGATA|||||||||||||;TYPE=INDEL;VEP_Allele=TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG,TAGATATATCTATCTATATATAGATATATCTATCTATATATAGATAGATATATTG;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3832;gnomADv4_1_AC_joint_XX=2233;gnomADv4_1_AC_joint_XY=1599;gnomADv4_1_AF_grpmax_joint=0.0967357;gnomADv4_1_AF_joint=0.0390018;gnomADv4_1_AF_joint_XX=0.0429654;gnomADv4_1_AF_joint_XY=0.0345506;gnomADv4_1_AN_grpmax_joint=2512;gnomADv4_1_AN_joint=98252;gnomADv4_1_AN_joint_XX=51972;gnomADv4_1_AN_joint_XY=46280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=96;gnomADv4_1_nhomalt_joint_XX=67;gnomADv4_1_nhomalt_joint_XY=29;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29410613 chr22_29410613_C_A C A 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=42;CADD_PHREDscore=0.213;CADD_Rawscore=-0.409863;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||4/4|ENST00000649455.1:n.234-85C>A|||||||rs4637226||1||||||||||||Ensembl||C|C||||chr22:g.29410613C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||5/6|ENST00000650462.1:n.422-85C>A|||||||rs4637226||1||||||||||||Ensembl||C|C||||chr22:g.29410613C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-23825C>A|||||||rs4637226||1||||||||||||Ensembl||C|C||||chr22:g.29410613C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||1/2|ENST00000752285.1:n.446-85C>A|||||||rs4637226||1||||||||||||Ensembl||C|C||||chr22:g.29410613C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||5/5|ENST00000752427.1:n.576+343G>T|||||||rs4637226||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29410613C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||4/4|ENST00000752430.1:n.523+343G>T|||||||rs4637226||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29410613C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||3/3|ENST00000752431.1:n.402+343G>T|||||||rs4637226||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29410613C>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||5/9|NM_001393612.1:c.-977-85C>A|||||||rs4637226||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29410613C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||3/3|XR_007068059.1:n.369+343G>T|||||||rs4637226||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29410613C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||3/3|XR_007068060.1:n.419+343G>T|||||||rs4637226||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29410613C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41107;gnomADv4_1_AC_joint_XX=21398;gnomADv4_1_AC_joint_XY=19709;gnomADv4_1_AF_grpmax_joint=0.579805;gnomADv4_1_AF_joint=0.324741;gnomADv4_1_AF_joint_XX=0.321127;gnomADv4_1_AF_joint_XY=0.328757;gnomADv4_1_AN_grpmax_joint=32830;gnomADv4_1_AN_joint=126584;gnomADv4_1_AN_joint_XX=66634;gnomADv4_1_AN_joint_XY=59950;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8921;gnomADv4_1_nhomalt_joint_XX=4686;gnomADv4_1_nhomalt_joint_XY=4235;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29410797 chr22_29410797_C_T C T 45 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=4.132;CADD_Rawscore=0.376923;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs5752911|30|1||||||||||||Ensembl||C|C||||chr22:g.29410797C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA|6/7||ENST00000650462.1:n.521C>T||521|||||rs5752911||1||||||||||||Ensembl||C|C||||chr22:g.29410797C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-23641C>T|||||||rs5752911||1||||||||||||Ensembl||C|C||||chr22:g.29410797C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA|2/3||ENST00000752285.1:n.545C>T||545|||||rs5752911||1||||||||||||Ensembl||C|C||||chr22:g.29410797C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||5/5|ENST00000752427.1:n.576+159G>A|||||||rs5752911||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29410797C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||4/4|ENST00000752430.1:n.523+159G>A|||||||rs5752911||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29410797C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||3/3|ENST00000752431.1:n.402+159G>A|||||||rs5752911||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29410797C>T|||||||||||||,T|5_prime_UTR_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding|6/10||NM_001393612.1:c.-878C>T||521|||||rs5752911||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29410797C>T|||||||||0|2|20|uAUG_gained_CapDistanceToStart:519&uAUG_gained_DistanceToCDS:879&uAUG_gained_DistanceToStop:108&uAUG_gained_KozakContext:CGGATGC&uAUG_gained_KozakStrength:Weak&uAUG_gained_type:uORF|uAUG_gained,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||3/3|XR_007068059.1:n.369+159G>A|||||||rs5752911||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29410797C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||3/3|XR_007068060.1:n.419+159G>A|||||||rs5752911||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29410797C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,0,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,2,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,20,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,uAUG_gained_CapDistanceToStart:519&uAUG_gained_DistanceToCDS:879&uAUG_gained_DistanceToStop:108&uAUG_gained_KozakContext:CGGATGC&uAUG_gained_KozakStrength:Weak&uAUG_gained_type:uORF,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,uAUG_gained,.,.;gnomADv4_1_AC_joint=42354;gnomADv4_1_AC_joint_XX=21966;gnomADv4_1_AC_joint_XY=20388;gnomADv4_1_AF_grpmax_joint=0.302721;gnomADv4_1_AF_joint=0.281041;gnomADv4_1_AF_joint_XX=0.28463;gnomADv4_1_AF_joint_XY=0.277275;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=150704;gnomADv4_1_AN_joint_XX=77174;gnomADv4_1_AN_joint_XY=73530;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=6055;gnomADv4_1_nhomalt_joint_XX=3210;gnomADv4_1_nhomalt_joint_XY=2845;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29411476 chr22_29411476_GAACTCTTTCTGCCCTAGTAGGATTCATGCAT_G GAACTCTTTCTGCCCTAGTAGGATTCATGCAT G 29 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=29;CADDIndel_PHREDscore=5.846;CADDIndel_Rawscore=0.537723;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs60980567|710|1||||||||||||Ensembl||AACTCTTTCTGCCCTAGTAGGATTCATGCAT|AACTCTTTCTGCCCTAGTAGGATTCATGCAT||||chr22:g.29411477_29411507del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.902+299_902+329del|||||||rs60980567||1||||||||||||Ensembl||AACTCTTTCTGCCCTAGTAGGATTCATGCAT|AACTCTTTCTGCCCTAGTAGGATTCATGCAT||||chr22:g.29411477_29411507del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-22961_131-22931del|||||||rs60980567||1||||||||||||Ensembl||AACTCTTTCTGCCCTAGTAGGATTCATGCAT|AACTCTTTCTGCCCTAGTAGGATTCATGCAT||||chr22:g.29411477_29411507del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+299_926+329del|||||||rs60980567||1||||||||||||Ensembl||AACTCTTTCTGCCCTAGTAGGATTCATGCAT|AACTCTTTCTGCCCTAGTAGGATTCATGCAT||||chr22:g.29411477_29411507del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||4/5|ENST00000752427.1:n.432-407_432-377del|||||||rs60980567||-1||HGNC|HGNC:9978|||||||||Ensembl||AACTCTTTCTGCCCTAGTAGGATTCATGCAT|AACTCTTTCTGCCCTAGTAGGATTCATGCAT||||chr22:g.29411477_29411507del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||3/4|ENST00000752430.1:n.379-407_379-377del|||||||rs60980567||-1||HGNC|HGNC:9978|||||||||Ensembl||AACTCTTTCTGCCCTAGTAGGATTCATGCAT|AACTCTTTCTGCCCTAGTAGGATTCATGCAT||||chr22:g.29411477_29411507del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||2/3|ENST00000752431.1:n.258-407_258-377del|||||||rs60980567||-1||HGNC|HGNC:9978|||||||||Ensembl||AACTCTTTCTGCCCTAGTAGGATTCATGCAT|AACTCTTTCTGCCCTAGTAGGATTCATGCAT||||chr22:g.29411477_29411507del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-497+299_-497+329del|||||||rs60980567||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||AACTCTTTCTGCCCTAGTAGGATTCATGCAT|AACTCTTTCTGCCCTAGTAGGATTCATGCAT||||chr22:g.29411477_29411507del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||2/3|XR_007068059.1:n.225-407_225-377del|||||||rs60980567||-1||EntrezGene||||||||||RefSeq||AACTCTTTCTGCCCTAGTAGGATTCATGCAT|AACTCTTTCTGCCCTAGTAGGATTCATGCAT||||chr22:g.29411477_29411507del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||2/3|XR_007068060.1:n.275-407_275-377del|||||||rs60980567||-1||EntrezGene||||||||||RefSeq||AACTCTTTCTGCCCTAGTAGGATTCATGCAT|AACTCTTTCTGCCCTAGTAGGATTCATGCAT||||chr22:g.29411477_29411507del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40236;gnomADv4_1_AC_joint_XX=20097;gnomADv4_1_AC_joint_XY=20139;gnomADv4_1_AF_grpmax_joint=0.467261;gnomADv4_1_AF_joint=0.264505;gnomADv4_1_AF_joint_XX=0.258436;gnomADv4_1_AF_joint_XY=0.270853;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7129;gnomADv4_1_nhomalt_joint_XX=3580;gnomADv4_1_nhomalt_joint_XY=3549;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29411511 chr22_29411511_AT_A AT A 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADDIndel_PHREDscore=5.68;CADDIndel_Rawscore=0.52125;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs58594577|745|1||||||||||||Ensembl||T|T||||chr22:g.29411512del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.902+334del|||||||rs58594577||1||||||||||||Ensembl||T|T||||chr22:g.29411512del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-22926del|||||||rs58594577||1||||||||||||Ensembl||T|T||||chr22:g.29411512del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+334del|||||||rs58594577||1||||||||||||Ensembl||T|T||||chr22:g.29411512del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||4/5|ENST00000752427.1:n.432-412del|||||||rs58594577||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29411512del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||3/4|ENST00000752430.1:n.379-412del|||||||rs58594577||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29411512del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||2/3|ENST00000752431.1:n.258-412del|||||||rs58594577||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29411512del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-497+334del|||||||rs58594577||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29411512del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||2/3|XR_007068059.1:n.225-412del|||||||rs58594577||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29411512del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||2/3|XR_007068060.1:n.275-412del|||||||rs58594577||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29411512del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40295;gnomADv4_1_AC_joint_XX=20109;gnomADv4_1_AC_joint_XY=20186;gnomADv4_1_AF_grpmax_joint=0.467748;gnomADv4_1_AF_joint=0.264764;gnomADv4_1_AF_joint_XX=0.25853;gnomADv4_1_AF_joint_XY=0.271281;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152192;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7142;gnomADv4_1_nhomalt_joint_XX=3580;gnomADv4_1_nhomalt_joint_XY=3562;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29411803 chr22_29411803_T_C T C 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=5.615;CADD_Rawscore=0.514856;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs140456358|1036|1||||||||||||Ensembl||T|T||||chr22:g.29411803T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.902+625T>C|||||||rs140456358||1||||||||||||Ensembl||T|T||||chr22:g.29411803T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-22635T>C|||||||rs140456358||1||||||||||||Ensembl||T|T||||chr22:g.29411803T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+625T>C|||||||rs140456358||1||||||||||||Ensembl||T|T||||chr22:g.29411803T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||4/5|ENST00000752427.1:n.432-703A>G|||||||rs140456358||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29411803T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||3/4|ENST00000752430.1:n.379-703A>G|||||||rs140456358||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29411803T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||2/3|ENST00000752431.1:n.258-703A>G|||||||rs140456358||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29411803T>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-497+625T>C|||||||rs140456358||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29411803T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||2/3|XR_007068059.1:n.225-703A>G|||||||rs140456358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29411803T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||2/3|XR_007068060.1:n.275-703A>G|||||||rs140456358||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29411803T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=225;gnomADv4_1_AC_joint_XX=105;gnomADv4_1_AC_joint_XY=120;gnomADv4_1_AF_grpmax_joint=0.0170068;gnomADv4_1_AF_joint=0.0014771;gnomADv4_1_AF_joint_XX=0.00134902;gnomADv4_1_AF_joint_XY=0.00161091;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152326;gnomADv4_1_AN_joint_XX=77834;gnomADv4_1_AN_joint_XY=74492;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29411866 chr22_29411866_A_C A C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=4.484;CADD_Rawscore=0.408455;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs2283858|1099|1||||||||||||Ensembl||A|A||||chr22:g.29411866A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.902+688A>C|||||||rs2283858||1||||||||||||Ensembl||A|A||||chr22:g.29411866A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-22572A>C|||||||rs2283858||1||||||||||||Ensembl||A|A||||chr22:g.29411866A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+688A>C|||||||rs2283858||1||||||||||||Ensembl||A|A||||chr22:g.29411866A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||4/5|ENST00000752427.1:n.431+652T>G|||||||rs2283858||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29411866A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||3/4|ENST00000752430.1:n.378+652T>G|||||||rs2283858||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29411866A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||2/3|ENST00000752431.1:n.257+652T>G|||||||rs2283858||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29411866A>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-497+688A>C|||||||rs2283858||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29411866A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||2/3|XR_007068059.1:n.224+652T>G|||||||rs2283858||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29411866A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||2/3|XR_007068060.1:n.274+652T>G|||||||rs2283858||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29411866A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15022;gnomADv4_1_AC_joint_XX=6960;gnomADv4_1_AC_joint_XY=8062;gnomADv4_1_AF_grpmax_joint=0.278147;gnomADv4_1_AF_joint=0.0988172;gnomADv4_1_AF_joint_XX=0.0895384;gnomADv4_1_AF_joint_XY=0.108527;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1203;gnomADv4_1_nhomalt_joint_XX=521;gnomADv4_1_nhomalt_joint_XY=682;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29412875 chr22_29412875_C_T C T 27 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=27;CADD_PHREDscore=2.677;CADD_Rawscore=0.242459;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs5763220|2108|1||||||||||||Ensembl||C|C||||chr22:g.29412875C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.902+1697C>T|||||||rs5763220||1||||||||||||Ensembl||C|C||||chr22:g.29412875C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-21563C>T|||||||rs5763220||1||||||||||||Ensembl||C|C||||chr22:g.29412875C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+1697C>T|||||||rs5763220||1||||||||||||Ensembl||C|C||||chr22:g.29412875C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs5763220|4281|1||||||||||||Ensembl||C|C||||chr22:g.29412875C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.296-222G>A|||||||rs5763220||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29412875C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.243-222G>A|||||||rs5763220||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29412875C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||1/3|ENST00000752431.1:n.122-222G>A|||||||rs5763220||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29412875C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-497+1697C>T|||||||rs5763220||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29412875C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||1/3|XR_007068059.1:n.89-222G>A|||||||rs5763220||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29412875C>T|||||||||||||,T|splice_region_variant&non_coding_transcript_exon_variant|LOW|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA|1/4||XR_007068060.1:n.138G>A||138|||||rs5763220||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29412875C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FN7N|enhancer||||||||||rs5763220|||||||||||||||||||||chr22:g.29412875C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1,ENSR22_9FN7N;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305,.;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12981;gnomADv4_1_AC_joint_XX=6573;gnomADv4_1_AC_joint_XY=6408;gnomADv4_1_AF_grpmax_joint=0.22759;gnomADv4_1_AF_joint=0.0853732;gnomADv4_1_AF_joint_XX=0.0845619;gnomADv4_1_AF_joint_XY=0.0862217;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=659;gnomADv4_1_nhomalt_joint_XX=325;gnomADv4_1_nhomalt_joint_XY=334;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29413462 chr22_29413462_C_T C T 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=6.027;CADD_Rawscore=0.555945;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs11703604|2695|1||||||||||||Ensembl||C|C||||chr22:g.29413462C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.902+2284C>T|||||||rs11703604||1||||||||||||Ensembl||C|C||||chr22:g.29413462C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-20976C>T|||||||rs11703604||1||||||||||||Ensembl||C|C||||chr22:g.29413462C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+2284C>T|||||||rs11703604||1||||||||||||Ensembl||C|C||||chr22:g.29413462C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs11703604|3694|1||||||||||||Ensembl||C|C||||chr22:g.29413462C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.296-809G>A|||||||rs11703604||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29413462C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.243-809G>A|||||||rs11703604||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29413462C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||1/3|ENST00000752431.1:n.122-809G>A|||||||rs11703604||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29413462C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-497+2284C>T|||||||rs11703604||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29413462C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||1/3|XR_007068059.1:n.89-809G>A|||||||rs11703604||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29413462C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs11703604|450|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29413462C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25884;gnomADv4_1_AC_joint_XX=13518;gnomADv4_1_AC_joint_XY=12366;gnomADv4_1_AF_grpmax_joint=0.208841;gnomADv4_1_AF_joint=0.170209;gnomADv4_1_AF_joint_XX=0.173923;gnomADv4_1_AF_joint_XY=0.166326;gnomADv4_1_AN_grpmax_joint=67980;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2359;gnomADv4_1_nhomalt_joint_XX=1239;gnomADv4_1_nhomalt_joint_XY=1120;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29413912 chr22_29413912_T_A T A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.285;CADD_Rawscore=0.047564;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs12628406|3145|1||||||||||||Ensembl||T|T||||chr22:g.29413912T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.902+2734T>A|||||||rs12628406||1||||||||||||Ensembl||T|T||||chr22:g.29413912T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-20526T>A|||||||rs12628406||1||||||||||||Ensembl||T|T||||chr22:g.29413912T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+2734T>A|||||||rs12628406||1||||||||||||Ensembl||T|T||||chr22:g.29413912T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs12628406|3244|1||||||||||||Ensembl||T|T||||chr22:g.29413912T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.296-1259A>T|||||||rs12628406||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29413912T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.243-1259A>T|||||||rs12628406||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29413912T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||1/3|ENST00000752431.1:n.122-1259A>T|||||||rs12628406||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29413912T>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-497+2734T>A|||||||rs12628406||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29413912T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||1/3|XR_007068059.1:n.89-1259A>T|||||||rs12628406||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29413912T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs12628406|900|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29413912T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12766;gnomADv4_1_AC_joint_XX=6449;gnomADv4_1_AC_joint_XY=6317;gnomADv4_1_AF_grpmax_joint=0.22948;gnomADv4_1_AF_joint=0.0838412;gnomADv4_1_AF_joint_XX=0.082875;gnomADv4_1_AF_joint_XY=0.0848512;gnomADv4_1_AN_grpmax_joint=5190;gnomADv4_1_AN_joint=152264;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=643;gnomADv4_1_nhomalt_joint_XX=315;gnomADv4_1_nhomalt_joint_XY=328;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29414023 chr22_29414023_A_G A G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.863;CADD_Rawscore=0.145214;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs5763221|3256|1||||||||||||Ensembl||A|A||||chr22:g.29414023A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.902+2845A>G|||||||rs5763221||1||||||||||||Ensembl||A|A||||chr22:g.29414023A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-20415A>G|||||||rs5763221||1||||||||||||Ensembl||A|A||||chr22:g.29414023A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+2845A>G|||||||rs5763221||1||||||||||||Ensembl||A|A||||chr22:g.29414023A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs5763221|3133|1||||||||||||Ensembl||A|A||||chr22:g.29414023A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.296-1370T>C|||||||rs5763221||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29414023A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.243-1370T>C|||||||rs5763221||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29414023A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||1/3|ENST00000752431.1:n.121+1330T>C|||||||rs5763221||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29414023A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-497+2845A>G|||||||rs5763221||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29414023A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||1/3|XR_007068059.1:n.88+1330T>C|||||||rs5763221||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29414023A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs5763221|1011|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29414023A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40486;gnomADv4_1_AC_joint_XX=20234;gnomADv4_1_AC_joint_XY=20252;gnomADv4_1_AF_grpmax_joint=0.471657;gnomADv4_1_AF_joint=0.2661;gnomADv4_1_AF_joint_XX=0.260164;gnomADv4_1_AF_joint_XY=0.272307;gnomADv4_1_AN_grpmax_joint=41492;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7234;gnomADv4_1_nhomalt_joint_XX=3636;gnomADv4_1_nhomalt_joint_XY=3598;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29414214 chr22_29414214_T_TTTATATAAATTC T TTTATATAAATTC 33 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADDIndel_PHREDscore=1.335;CADDIndel_Rawscore=0.057618;CSQ=TTATATAAATTC|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs61578123|4940|-1||||||||||||Ensembl|||||||chr22:g.29414215_29414216insTATATAAATTCT|||||||||||||,TTATATAAATTC|downstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs61578123|3447|1||||||||||||Ensembl|||||||chr22:g.29414215_29414216insTATATAAATTCT|||||||||||||,TTATATAAATTC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.903-2797_903-2796insTATATAAATTCT|||||||rs61578123||1||||||||||||Ensembl||||||1|chr22:g.29414215_29414216insTATATAAATTCT|||||||||||||,TTATATAAATTC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-20223_131-20222insTATATAAATTCT|||||||rs61578123||1||||||||||||Ensembl||||||1|chr22:g.29414215_29414216insTATATAAATTCT|||||||||||||,TTATATAAATTC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+3037_926+3038insTATATAAATTCT|||||||rs61578123||1||||||||||||Ensembl||||||1|chr22:g.29414215_29414216insTATATAAATTCT|||||||||||||,TTATATAAATTC|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs61578123|2941|1||||||||||||Ensembl|||||||chr22:g.29414215_29414216insTATATAAATTCT|||||||||||||,TTATATAAATTC|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.296-1562_296-1561insGAATTTATATAA|||||||rs61578123||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29414215_29414216insTATATAAATTCT|||||||||||||,TTATATAAATTC|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.243-1562_243-1561insGAATTTATATAA|||||||rs61578123||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29414215_29414216insTATATAAATTCT|||||||||||||,TTATATAAATTC|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||1/3|ENST00000752431.1:n.121+1138_121+1139insGAATTTATATAA|||||||rs61578123||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29414215_29414216insTATATAAATTCT|||||||||||||,TTATATAAATTC|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-496-2797_-496-2796insTATATAAATTCT|||||||rs61578123||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||1|chr22:g.29414215_29414216insTATATAAATTCT|||||||||||||,TTATATAAATTC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||1/3|XR_007068059.1:n.88+1138_88+1139insGAATTTATATAA|||||||rs61578123||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29414215_29414216insTATATAAATTCT|||||||||||||,TTATATAAATTC|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs61578123|1202|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29414215_29414216insTATATAAATTCT|||||||||||||;TYPE=INDEL;VEP_Allele=TTATATAAATTC,TTATATAAATTC,TTATATAAATTC,TTATATAAATTC,TTATATAAATTC,TTATATAAATTC,TTATATAAATTC,TTATATAAATTC,TTATATAAATTC,TTATATAAATTC,TTATATAAATTC,TTATATAAATTC;VEP_Feature=ENST00000439655,ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90101;gnomADv4_1_AC_joint_XX=46581;gnomADv4_1_AC_joint_XY=43520;gnomADv4_1_AF_grpmax_joint=0.903419;gnomADv4_1_AF_joint=0.648358;gnomADv4_1_AF_joint_XX=0.649394;gnomADv4_1_AF_joint_XY=0.647253;gnomADv4_1_AN_grpmax_joint=35918;gnomADv4_1_AN_joint=138968;gnomADv4_1_AN_joint_XX=71730;gnomADv4_1_AN_joint_XY=67238;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31465;gnomADv4_1_nhomalt_joint_XX=16292;gnomADv4_1_nhomalt_joint_XY=15173;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29414224 chr22_29414224_A_C A C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.054;CADD_Rawscore=-0.780313;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs56906302|4931|-1||||||||||||Ensembl||A|A||||chr22:g.29414224A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs56906302|3457|1||||||||||||Ensembl||A|A||||chr22:g.29414224A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.903-2788A>C|||||||rs56906302||1||||||||||||Ensembl||A|A||||chr22:g.29414224A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-20214A>C|||||||rs56906302||1||||||||||||Ensembl||A|A||||chr22:g.29414224A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+3046A>C|||||||rs56906302||1||||||||||||Ensembl||A|A||||chr22:g.29414224A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs56906302|2932|1||||||||||||Ensembl||A|A||||chr22:g.29414224A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.296-1571T>G|||||||rs56906302||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29414224A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.243-1571T>G|||||||rs56906302||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29414224A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||1/3|ENST00000752431.1:n.121+1129T>G|||||||rs56906302||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29414224A>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-496-2788A>C|||||||rs56906302||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29414224A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||1/3|XR_007068059.1:n.88+1129T>G|||||||rs56906302||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29414224A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs56906302|1212|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29414224A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000439655,ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33368;gnomADv4_1_AC_joint_XX=16944;gnomADv4_1_AC_joint_XY=16424;gnomADv4_1_AF_grpmax_joint=0.629041;gnomADv4_1_AF_joint=0.426635;gnomADv4_1_AF_joint_XX=0.425194;gnomADv4_1_AF_joint_XY=0.428132;gnomADv4_1_AN_grpmax_joint=24930;gnomADv4_1_AN_joint=78212;gnomADv4_1_AN_joint_XX=39850;gnomADv4_1_AN_joint_XY=38362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5706;gnomADv4_1_nhomalt_joint_XX=2927;gnomADv4_1_nhomalt_joint_XY=2779;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29414225 chr22_29414225_A_ATTTTTTC A ATTTTTTC 31 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=31;CADDIndel_PHREDscore=0.248;CADDIndel_Rawscore=-0.371077;CSQ=TTTTTTC|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs61478261|4929|-1||||||||||||Ensembl|||||||chr22:g.29414233_29414239dup|||||||||||||,TTTTTTC|downstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs61478261|3458|1||||||||||||Ensembl|||||||chr22:g.29414233_29414239dup|||||||||||||,TTTTTTC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.903-2779_903-2773dup|||||||rs61478261||1||||||||||||Ensembl||||||14|chr22:g.29414233_29414239dup|||||||||||||,TTTTTTC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-20205_131-20199dup|||||||rs61478261||1||||||||||||Ensembl||||||14|chr22:g.29414233_29414239dup|||||||||||||,TTTTTTC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+3055_926+3061dup|||||||rs61478261||1||||||||||||Ensembl||||||14|chr22:g.29414233_29414239dup|||||||||||||,TTTTTTC|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs61478261|2930|1||||||||||||Ensembl|||||||chr22:g.29414233_29414239dup|||||||||||||,TTTTTTC|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.296-1579_296-1573dup|||||||rs61478261||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29414233_29414239dup|||||||||||||,TTTTTTC|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.243-1579_243-1573dup|||||||rs61478261||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29414233_29414239dup|||||||||||||,TTTTTTC|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||1/3|ENST00000752431.1:n.121+1121_121+1127dup|||||||rs61478261||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29414233_29414239dup|||||||||||||,TTTTTTC|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-496-2779_-496-2773dup|||||||rs61478261||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||14|chr22:g.29414233_29414239dup|||||||||||||,TTTTTTC|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||1/3|XR_007068059.1:n.88+1121_88+1127dup|||||||rs61478261||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29414233_29414239dup|||||||||||||,TTTTTTC|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs61478261|1213|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29414233_29414239dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTTTTC,TTTTTTC,TTTTTTC,TTTTTTC,TTTTTTC,TTTTTTC,TTTTTTC,TTTTTTC,TTTTTTC,TTTTTTC,TTTTTTC,TTTTTTC;VEP_Feature=ENST00000439655,ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74119;gnomADv4_1_AC_joint_XX=38902;gnomADv4_1_AC_joint_XY=35217;gnomADv4_1_AF_grpmax_joint=0.857549;gnomADv4_1_AF_joint=0.6063;gnomADv4_1_AF_joint_XX=0.609673;gnomADv4_1_AF_joint_XY=0.602618;gnomADv4_1_AN_grpmax_joint=28838;gnomADv4_1_AN_joint=122248;gnomADv4_1_AN_joint_XX=63808;gnomADv4_1_AN_joint_XY=58440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24151;gnomADv4_1_nhomalt_joint_XX=12756;gnomADv4_1_nhomalt_joint_XY=11395;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29414933 chr22_29414933_C_T C T 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=7.826;CADD_Rawscore=0.749393;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs144292846|4222|-1||||||||||||Ensembl||C|C||||chr22:g.29414933C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs144292846|4166|1||||||||||||Ensembl||C|C||||chr22:g.29414933C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.903-2079C>T|||||||rs144292846||1||||||||||||Ensembl||C|C||||chr22:g.29414933C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-19505C>T|||||||rs144292846||1||||||||||||Ensembl||C|C||||chr22:g.29414933C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+3755C>T|||||||rs144292846||1||||||||||||Ensembl||C|C||||chr22:g.29414933C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs144292846|2223|1||||||||||||Ensembl||C|C||||chr22:g.29414933C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.296-2280G>A|||||||rs144292846||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29414933C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.243-2280G>A|||||||rs144292846||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29414933C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||1/3|ENST00000752431.1:n.121+420G>A|||||||rs144292846||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29414933C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-496-2079C>T|||||||rs144292846||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29414933C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||1/3|XR_007068059.1:n.88+420G>A|||||||rs144292846||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29414933C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs144292846|1921|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29414933C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7SLN|enhancer||||||||||rs144292846|||||||||||||||||||||chr22:g.29414933C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000439655,ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1,ENSR22_B7SLN;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000242156,ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305,.;VEP_SYMBOL=.,.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16315;gnomADv4_1_AC_joint_XX=8403;gnomADv4_1_AC_joint_XY=7912;gnomADv4_1_AF_grpmax_joint=0.143836;gnomADv4_1_AF_joint=0.107351;gnomADv4_1_AF_joint_XX=0.108133;gnomADv4_1_AF_joint_XY=0.106533;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151978;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=908;gnomADv4_1_nhomalt_joint_XX=458;gnomADv4_1_nhomalt_joint_XY=450;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29415183 chr22_29415183_C_G C G 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=5.113;CADD_Rawscore=0.466426;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs12168979|3972|-1||||||||||||Ensembl||C|C||||chr22:g.29415183C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs12168979|4416|1||||||||||||Ensembl||C|C||||chr22:g.29415183C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.903-1829C>G|||||||rs12168979||1||||||||||||Ensembl||C|C||||chr22:g.29415183C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-19255C>G|||||||rs12168979||1||||||||||||Ensembl||C|C||||chr22:g.29415183C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+4005C>G|||||||rs12168979||1||||||||||||Ensembl||C|C||||chr22:g.29415183C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs12168979|1973|1||||||||||||Ensembl||C|C||||chr22:g.29415183C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.296-2530G>C|||||||rs12168979||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29415183C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.243-2530G>C|||||||rs12168979||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29415183C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||1/3|ENST00000752431.1:n.121+170G>C|||||||rs12168979||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29415183C>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-496-1829C>G|||||||rs12168979||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29415183C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||1/3|XR_007068059.1:n.88+170G>C|||||||rs12168979||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29415183C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs12168979|2171|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29415183C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7SLN|enhancer||||||||||rs12168979|||||||||||||||||||||chr22:g.29415183C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000439655,ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1,ENSR22_B7SLN;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000242156,ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305,.;VEP_SYMBOL=.,.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28611;gnomADv4_1_AC_joint_XX=14512;gnomADv4_1_AC_joint_XY=14099;gnomADv4_1_AF_grpmax_joint=0.331101;gnomADv4_1_AF_joint=0.188966;gnomADv4_1_AF_joint_XX=0.187426;gnomADv4_1_AF_joint_XY=0.190579;gnomADv4_1_AN_grpmax_joint=41054;gnomADv4_1_AN_joint=151408;gnomADv4_1_AN_joint_XX=77428;gnomADv4_1_AN_joint_XY=73980;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3391;gnomADv4_1_nhomalt_joint_XX=1733;gnomADv4_1_nhomalt_joint_XY=1658;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29415232 chr22_29415232_T_A T A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=2.291;CADD_Rawscore=0.200185;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs2106265|3923|-1||||||||||||Ensembl||T|T||||chr22:g.29415232T>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs2106265|4465|1||||||||||||Ensembl||T|T||||chr22:g.29415232T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.903-1780T>A|||||||rs2106265||1||||||||||||Ensembl||T|T||||chr22:g.29415232T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-19206T>A|||||||rs2106265||1||||||||||||Ensembl||T|T||||chr22:g.29415232T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+4054T>A|||||||rs2106265||1||||||||||||Ensembl||T|T||||chr22:g.29415232T>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs2106265|1924|1||||||||||||Ensembl||T|T||||chr22:g.29415232T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.296-2579A>T|||||||rs2106265||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29415232T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.243-2579A>T|||||||rs2106265||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29415232T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||1/3|ENST00000752431.1:n.121+121A>T|||||||rs2106265||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29415232T>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-496-1780T>A|||||||rs2106265||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29415232T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||1/3|XR_007068059.1:n.88+121A>T|||||||rs2106265||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29415232T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs2106265|2220|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29415232T>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7SLN|enhancer||||||||||rs2106265|||||||||||||||||||||chr22:g.29415232T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000439655,ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1,ENSR22_B7SLN;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000242156,ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305,.;VEP_SYMBOL=.,.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41403;gnomADv4_1_AC_joint_XX=20742;gnomADv4_1_AC_joint_XY=20661;gnomADv4_1_AF_grpmax_joint=0.4967;gnomADv4_1_AF_joint=0.273284;gnomADv4_1_AF_joint_XX=0.267563;gnomADv4_1_AF_joint_XY=0.279278;gnomADv4_1_AN_grpmax_joint=41210;gnomADv4_1_AN_joint=151502;gnomADv4_1_AN_joint_XX=77522;gnomADv4_1_AN_joint_XY=73980;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7719;gnomADv4_1_nhomalt_joint_XX=3903;gnomADv4_1_nhomalt_joint_XY=3816;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29415384 chr22_29415384_G_C G C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=6.382;CADD_Rawscore=0.59236;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs2106266|3771|-1||||||||||||Ensembl||G|G||||chr22:g.29415384G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000285697|Transcript|ENST00000649455|transcribed_unprocessed_pseudogene||||||||||rs2106266|4617|1||||||||||||Ensembl||G|G||||chr22:g.29415384G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.903-1628G>C|||||||rs2106266||1||||||||||||Ensembl||G|G||||chr22:g.29415384G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-19054G>C|||||||rs2106266||1||||||||||||Ensembl||G|G||||chr22:g.29415384G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+4206G>C|||||||rs2106266||1||||||||||||Ensembl||G|G||||chr22:g.29415384G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs2106266|1772|1||||||||||||Ensembl||G|G||||chr22:g.29415384G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.296-2731C>G|||||||rs2106266||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29415384G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.243-2731C>G|||||||rs2106266||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29415384G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA|1/4||ENST00000752431.1:n.90C>G||90|||||rs2106266||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29415384G>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-496-1628G>C|||||||rs2106266||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29415384G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA|1/4||XR_007068059.1:n.57C>G||57|||||rs2106266||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29415384G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs2106266|2372|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29415384G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7SLN|enhancer||||||||||rs2106266|||||||||||||||||||||chr22:g.29415384G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000439655,ENST00000649455,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1,ENSR22_B7SLN;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000242156,ENSG00000285697,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305,.;VEP_SYMBOL=.,.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40529;gnomADv4_1_AC_joint_XX=20240;gnomADv4_1_AC_joint_XY=20289;gnomADv4_1_AF_grpmax_joint=0.471558;gnomADv4_1_AF_joint=0.266382;gnomADv4_1_AF_joint_XX=0.260348;gnomADv4_1_AF_joint_XY=0.272687;gnomADv4_1_AN_grpmax_joint=41488;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7230;gnomADv4_1_nhomalt_joint_XX=3629;gnomADv4_1_nhomalt_joint_XY=3601;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29416475 chr22_29416475_C_T C T 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=3.343;CADD_Rawscore=0.30646;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs57877755|2680|-1||||||||||||Ensembl||C|C||||chr22:g.29416475C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.903-537C>T|||||||rs57877755||1||||||||||||Ensembl||C|C||||chr22:g.29416475C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-17963C>T|||||||rs57877755||1||||||||||||Ensembl||C|C||||chr22:g.29416475C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+5297C>T|||||||rs57877755||1||||||||||||Ensembl||C|C||||chr22:g.29416475C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs57877755|681|1||||||||||||Ensembl||C|C||||chr22:g.29416475C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+2680G>A|||||||rs57877755||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29416475C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+2680G>A|||||||rs57877755||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29416475C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs57877755|1002|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29416475C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-496-537C>T|||||||rs57877755||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29416475C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs57877755|1035|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29416475C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs57877755|3463|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29416475C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24850;gnomADv4_1_AC_joint_XX=12924;gnomADv4_1_AC_joint_XY=11926;gnomADv4_1_AF_grpmax_joint=0.198432;gnomADv4_1_AF_joint=0.163328;gnomADv4_1_AF_joint_XX=0.166246;gnomADv4_1_AF_joint_XY=0.160278;gnomADv4_1_AN_grpmax_joint=67998;gnomADv4_1_AN_joint=152148;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2159;gnomADv4_1_nhomalt_joint_XX=1117;gnomADv4_1_nhomalt_joint_XY=1042;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29416522 chr22_29416522_A_G A G 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.348;CADD_Rawscore=-0.284466;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs7286640|2633|-1||||||||||||Ensembl||A|A||||chr22:g.29416522A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.903-490A>G|||||||rs7286640||1||||||||||||Ensembl||A|A||||chr22:g.29416522A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-17916A>G|||||||rs7286640||1||||||||||||Ensembl||A|A||||chr22:g.29416522A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+5344A>G|||||||rs7286640||1||||||||||||Ensembl||A|A||||chr22:g.29416522A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs7286640|634|1||||||||||||Ensembl||A|A||||chr22:g.29416522A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+2633T>C|||||||rs7286640||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29416522A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+2633T>C|||||||rs7286640||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29416522A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs7286640|1049|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29416522A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-496-490A>G|||||||rs7286640||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29416522A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs7286640|1082|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29416522A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs7286640|3510|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29416522A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40498;gnomADv4_1_AC_joint_XX=20250;gnomADv4_1_AC_joint_XY=20248;gnomADv4_1_AF_grpmax_joint=0.471515;gnomADv4_1_AF_joint=0.266319;gnomADv4_1_AF_joint_XX=0.260537;gnomADv4_1_AF_joint_XY=0.272363;gnomADv4_1_AN_grpmax_joint=41460;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7215;gnomADv4_1_nhomalt_joint_XX=3632;gnomADv4_1_nhomalt_joint_XY=3583;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29416768 chr22_29416768_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=8.889;CADD_Rawscore=0.862598;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs9613901|2387|-1||||||||||||Ensembl||C|C||||chr22:g.29416768C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.903-244C>T|||||||rs9613901||1||||||||||||Ensembl||C|C||||chr22:g.29416768C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-17670C>T|||||||rs9613901||1||||||||||||Ensembl||C|C||||chr22:g.29416768C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+5590C>T|||||||rs9613901||1||||||||||||Ensembl||C|C||||chr22:g.29416768C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs9613901|388|1||||||||||||Ensembl||C|C||||chr22:g.29416768C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+2387G>A|||||||rs9613901||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29416768C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+2387G>A|||||||rs9613901||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29416768C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs9613901|1295|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29416768C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-496-244C>T|||||||rs9613901||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29416768C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs9613901|1328|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29416768C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs9613901|3756|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29416768C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40354;gnomADv4_1_AC_joint_XX=20164;gnomADv4_1_AC_joint_XY=20190;gnomADv4_1_AF_grpmax_joint=0.470834;gnomADv4_1_AF_joint=0.265522;gnomADv4_1_AF_joint_XX=0.259544;gnomADv4_1_AF_joint_XY=0.271773;gnomADv4_1_AN_grpmax_joint=41418;gnomADv4_1_AN_joint=151980;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7184;gnomADv4_1_nhomalt_joint_XX=3614;gnomADv4_1_nhomalt_joint_XY=3570;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29416864 chr22_29416864_A_G A G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.012;CADD_Rawscore=-1.21575;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs5752912|2291|-1||||||||||||Ensembl||A|A||||chr22:g.29416864A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.903-148A>G|||||||rs5752912||1||||||||||||Ensembl||A|A||||chr22:g.29416864A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-17574A>G|||||||rs5752912||1||||||||||||Ensembl||A|A||||chr22:g.29416864A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+5686A>G|||||||rs5752912||1||||||||||||Ensembl||A|A||||chr22:g.29416864A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs5752912|292|1||||||||||||Ensembl||A|A||||chr22:g.29416864A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+2291T>C|||||||rs5752912||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29416864A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+2291T>C|||||||rs5752912||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29416864A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs5752912|1391|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29416864A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-496-148A>G|||||||rs5752912||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29416864A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs5752912|1424|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29416864A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs5752912|3852|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29416864A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18396;gnomADv4_1_AC_joint_XX=9430;gnomADv4_1_AC_joint_XY=8966;gnomADv4_1_AF_grpmax_joint=0.253965;gnomADv4_1_AF_joint=0.120885;gnomADv4_1_AF_joint_XX=0.12123;gnomADv4_1_AF_joint_XY=0.120524;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152178;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1176;gnomADv4_1_nhomalt_joint_XX=606;gnomADv4_1_nhomalt_joint_XY=570;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29416932 chr22_29416932_C_T C T 25 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=25;CADD_PHREDscore=0.182;CADD_Rawscore=-0.451086;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs6006131|2223|-1||||||||||||Ensembl||C|C||||chr22:g.29416932C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||6/6|ENST00000650462.1:n.903-80C>T|||||||rs6006131||1||||||||||||Ensembl||C|C||||chr22:g.29416932C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-17506C>T|||||||rs6006131||1||||||||||||Ensembl||C|C||||chr22:g.29416932C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+5754C>T|||||||rs6006131||1||||||||||||Ensembl||C|C||||chr22:g.29416932C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs6006131|224|1||||||||||||Ensembl||C|C||||chr22:g.29416932C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+2223G>A|||||||rs6006131||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29416932C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+2223G>A|||||||rs6006131||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29416932C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs6006131|1459|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29416932C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||6/9|NM_001393612.1:c.-496-80C>T|||||||rs6006131||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29416932C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs6006131|1492|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29416932C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs6006131|3920|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29416932C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41187;gnomADv4_1_AC_joint_XX=20589;gnomADv4_1_AC_joint_XY=20598;gnomADv4_1_AF_grpmax_joint=0.482346;gnomADv4_1_AF_joint=0.270746;gnomADv4_1_AF_joint_XX=0.264865;gnomADv4_1_AF_joint_XY=0.276892;gnomADv4_1_AN_grpmax_joint=41464;gnomADv4_1_AN_joint=152124;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7524;gnomADv4_1_nhomalt_joint_XX=3779;gnomADv4_1_nhomalt_joint_XY=3745;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29417094 chr22_29417094_G_T G T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.766;CADD_Rawscore=0.251503;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs28422478|2061|-1||||||||||||Ensembl||G|G||||chr22:g.29417094G>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA|7/7||ENST00000650462.1:n.985G>T||985|||||rs28422478||1||||||||||||Ensembl||G|G||||chr22:g.29417094G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-17344G>T|||||||rs28422478||1||||||||||||Ensembl||G|G||||chr22:g.29417094G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+5916G>T|||||||rs28422478||1||||||||||||Ensembl||G|G||||chr22:g.29417094G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs28422478|62|1||||||||||||Ensembl||G|G||||chr22:g.29417094G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+2061C>A|||||||rs28422478||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29417094G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+2061C>A|||||||rs28422478||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29417094G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs28422478|1621|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29417094G>T|||||||||||||,T|5_prime_UTR_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding|7/10||NM_001393612.1:c.-414G>T||985|||||rs28422478||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29417094G>T|||||||||0|2|20|uAUG_lost_CapDistanceToStart:982&uAUG_lost_DistanceToCDS:416&uAUG_lost_DistanceToStop:66&uAUG_lost_Evidence:False&uAUG_lost_KozakContext:AAAATGT&uAUG_lost_KozakStrength:Moderate&uAUG_lost_type:uORF|uAUG_lost,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs28422478|1654|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29417094G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs28422478|4082|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29417094G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,0,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,2,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,20,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,uAUG_lost_CapDistanceToStart:982&uAUG_lost_DistanceToCDS:416&uAUG_lost_DistanceToStop:66&uAUG_lost_Evidence:False&uAUG_lost_KozakContext:AAAATGT&uAUG_lost_KozakStrength:Moderate&uAUG_lost_type:uORF,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,uAUG_lost,.,.;gnomADv4_1_AC_joint=25921;gnomADv4_1_AC_joint_XX=12667;gnomADv4_1_AC_joint_XY=13254;gnomADv4_1_AF_grpmax_joint=0.445261;gnomADv4_1_AF_joint=0.170695;gnomADv4_1_AF_joint_XX=0.163029;gnomADv4_1_AF_joint_XY=0.178727;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=151856;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74158;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2751;gnomADv4_1_nhomalt_joint_XX=1293;gnomADv4_1_nhomalt_joint_XY=1458;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29417117 chr22_29417117_C_T C T 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.418;CADD_Rawscore=0.214625;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs377301|2038|-1||||||||||||Ensembl||C|C||||chr22:g.29417117C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA|7/7||ENST00000650462.1:n.1008C>T||1008|||||rs377301||1||||||||||||Ensembl||C|C||||chr22:g.29417117C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-17321C>T|||||||rs377301||1||||||||||||Ensembl||C|C||||chr22:g.29417117C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+5939C>T|||||||rs377301||1||||||||||||Ensembl||C|C||||chr22:g.29417117C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs377301|39|1||||||||||||Ensembl||C|C||||chr22:g.29417117C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+2038G>A|||||||rs377301||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29417117C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+2038G>A|||||||rs377301||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29417117C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs377301|1644|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29417117C>T|||||||||||||,T|5_prime_UTR_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding|7/10||NM_001393612.1:c.-391C>T||1008|||||rs377301||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29417117C>T|||||||||0|2|20|uAUG_gained_CapDistanceToStart:1006&uAUG_gained_DistanceToCDS:392&uAUG_gained_DistanceToStop:42&uAUG_gained_KozakContext:ATGATGC&uAUG_gained_KozakStrength:Moderate&uAUG_gained_type:uORF|uAUG_gained,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs377301|1677|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29417117C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs377301|4105|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29417117C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,0,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,2,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,20,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,uAUG_gained_CapDistanceToStart:1006&uAUG_gained_DistanceToCDS:392&uAUG_gained_DistanceToStop:42&uAUG_gained_KozakContext:ATGATGC&uAUG_gained_KozakStrength:Moderate&uAUG_gained_type:uORF,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,uAUG_gained,.,.;gnomADv4_1_AC_joint=35921;gnomADv4_1_AC_joint_XX=17818;gnomADv4_1_AC_joint_XY=18103;gnomADv4_1_AF_grpmax_joint=0.598991;gnomADv4_1_AF_joint=0.237112;gnomADv4_1_AF_joint_XX=0.229684;gnomADv4_1_AF_joint_XY=0.244907;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151494;gnomADv4_1_AN_joint_XX=77576;gnomADv4_1_AN_joint_XY=73918;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4996;gnomADv4_1_nhomalt_joint_XX=2383;gnomADv4_1_nhomalt_joint_XY=2613;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29417128 chr22_29417128_G_C G C 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=29;CADD_PHREDscore=9.675;CADD_Rawscore=0.941707;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs6006132|2027|-1||||||||||||Ensembl||G|G||||chr22:g.29417128G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA|7/7||ENST00000650462.1:n.1019G>C||1019|||||rs6006132||1||||||||||||Ensembl||G|G||||chr22:g.29417128G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-17310G>C|||||||rs6006132||1||||||||||||Ensembl||G|G||||chr22:g.29417128G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+5950G>C|||||||rs6006132||1||||||||||||Ensembl||G|G||||chr22:g.29417128G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs6006132|28|1||||||||||||Ensembl||G|G||||chr22:g.29417128G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+2027C>G|||||||rs6006132||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29417128G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+2027C>G|||||||rs6006132||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29417128G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs6006132|1655|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29417128G>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding|7/10||NM_001393612.1:c.-380G>C||1019|||||rs6006132||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29417128G>C|||||||||0|2|20||,C|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs6006132|1688|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29417128G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs6006132|4116|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29417128G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,0,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,2,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,20,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53620;gnomADv4_1_AC_joint_XX=27820;gnomADv4_1_AC_joint_XY=25800;gnomADv4_1_AF_grpmax_joint=0.470135;gnomADv4_1_AF_joint=0.353121;gnomADv4_1_AF_joint_XX=0.358127;gnomADv4_1_AF_joint_XY=0.347878;gnomADv4_1_AN_grpmax_joint=41420;gnomADv4_1_AN_joint=151846;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74164;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9968;gnomADv4_1_nhomalt_joint_XX=5253;gnomADv4_1_nhomalt_joint_XY=4715;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29417264 chr22_29417264_T_G T G 26 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=26;CADD_PHREDscore=3.895;CADD_Rawscore=0.355887;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs456915|1891|-1||||||||||||Ensembl||T|T||||chr22:g.29417264T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA|7/7||ENST00000650462.1:n.1155T>G||1155|||||rs456915||1||||||||||||Ensembl||T|T||||chr22:g.29417264T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-17174T>G|||||||rs456915||1||||||||||||Ensembl||T|T||||chr22:g.29417264T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+6086T>G|||||||rs456915||1||||||||||||Ensembl||T|T||||chr22:g.29417264T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA|1/2||ENST00000752286.1:n.109T>G||109|||||rs456915||1||||||||||||Ensembl||T|T||||chr22:g.29417264T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+1891A>C|||||||rs456915||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29417264T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+1891A>C|||||||rs456915||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29417264T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs456915|1791|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29417264T>G|||||||||||||,G|5_prime_UTR_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding|7/10||NM_001393612.1:c.-244T>G||1155|||||rs456915||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29417264T>G|||||||||0|2|20||,G|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs456915|1824|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29417264T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs456915|4252|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29417264T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,0,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,2,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,20,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36359;gnomADv4_1_AC_joint_XX=18775;gnomADv4_1_AC_joint_XY=17584;gnomADv4_1_AF_grpmax_joint=0.393668;gnomADv4_1_AF_joint=0.241797;gnomADv4_1_AF_joint_XX=0.243926;gnomADv4_1_AF_joint_XY=0.239564;gnomADv4_1_AN_grpmax_joint=5022;gnomADv4_1_AN_joint=150370;gnomADv4_1_AN_joint_XX=76970;gnomADv4_1_AN_joint_XY=73400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4559;gnomADv4_1_nhomalt_joint_XX=2349;gnomADv4_1_nhomalt_joint_XY=2210;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29417416 chr22_29417416_T_G T G 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=18;CADD_PHREDscore=3.262;CADD_Rawscore=0.299013;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs9608763|1739|-1||||||||||||Ensembl||T|T||||chr22:g.29417416T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA|7/7||ENST00000650462.1:n.1307T>G||1307|||||rs9608763||1||||||||||||Ensembl||T|T||||chr22:g.29417416T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-17022T>G|||||||rs9608763||1||||||||||||Ensembl||T|T||||chr22:g.29417416T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+6238T>G|||||||rs9608763||1||||||||||||Ensembl||T|T||||chr22:g.29417416T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+84T>G|||||||rs9608763||1||||||||||||Ensembl||T|T||||chr22:g.29417416T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+1739A>C|||||||rs9608763||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29417416T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+1739A>C|||||||rs9608763||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29417416T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs9608763|1943|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29417416T>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+84T>G|||||||rs9608763||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29417416T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs9608763|1976|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29417416T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs9608763|4404|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29417416T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33836;gnomADv4_1_AC_joint_XX=16980;gnomADv4_1_AC_joint_XY=16856;gnomADv4_1_AF_grpmax_joint=0.4649;gnomADv4_1_AF_joint=0.225775;gnomADv4_1_AF_joint_XX=0.221457;gnomADv4_1_AF_joint_XY=0.230298;gnomADv4_1_AN_grpmax_joint=40000;gnomADv4_1_AN_joint=149866;gnomADv4_1_AN_joint_XX=76674;gnomADv4_1_AN_joint_XY=73192;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5816;gnomADv4_1_nhomalt_joint_XX=2962;gnomADv4_1_nhomalt_joint_XY=2854;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29417497 chr22_29417497_A_G A G 30 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADD_PHREDscore=1.446;CADD_Rawscore=0.078442;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs457059|1658|-1||||||||||||Ensembl||A|A||||chr22:g.29417497A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA|7/7||ENST00000650462.1:n.1388A>G||1388|||||rs457059||1||||||||||||Ensembl||A|A||||chr22:g.29417497A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-16941A>G|||||||rs457059||1||||||||||||Ensembl||A|A||||chr22:g.29417497A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+6319A>G|||||||rs457059||1||||||||||||Ensembl||A|A||||chr22:g.29417497A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+165A>G|||||||rs457059||1||||||||||||Ensembl||A|A||||chr22:g.29417497A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+1658T>C|||||||rs457059||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29417497A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+1658T>C|||||||rs457059||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29417497A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs457059|2024|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29417497A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+165A>G|||||||rs457059||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29417497A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs457059|2057|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29417497A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs457059|4485|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29417497A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32710;gnomADv4_1_AC_joint_XX=16756;gnomADv4_1_AC_joint_XY=15954;gnomADv4_1_AF_grpmax_joint=0.442515;gnomADv4_1_AF_joint=0.233609;gnomADv4_1_AF_joint_XX=0.232238;gnomADv4_1_AF_joint_XY=0.235067;gnomADv4_1_AN_grpmax_joint=34948;gnomADv4_1_AN_joint=140020;gnomADv4_1_AN_joint_XX=72150;gnomADv4_1_AN_joint_XY=67870;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5235;gnomADv4_1_nhomalt_joint_XX=2705;gnomADv4_1_nhomalt_joint_XY=2530;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29417526 chr22_29417526_G_A G A 60 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=60;CADD_PHREDscore=6.507;CADD_Rawscore=0.605426;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs9286735|1629|-1||||||||||||Ensembl||G|G||||chr22:g.29417526G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA|7/7||ENST00000650462.1:n.1417G>A||1417|||||rs9286735||1||||||||||||Ensembl||G|G||||chr22:g.29417526G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-16912G>A|||||||rs9286735||1||||||||||||Ensembl||G|G||||chr22:g.29417526G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+6348G>A|||||||rs9286735||1||||||||||||Ensembl||G|G||||chr22:g.29417526G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+194G>A|||||||rs9286735||1||||||||||||Ensembl||G|G||||chr22:g.29417526G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+1629C>T|||||||rs9286735||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29417526G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+1629C>T|||||||rs9286735||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29417526G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs9286735|2053|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29417526G>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+194G>A|||||||rs9286735||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29417526G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs9286735|2086|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29417526G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs9286735|4514|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29417526G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87877;gnomADv4_1_AC_joint_XX=45039;gnomADv4_1_AC_joint_XY=42838;gnomADv4_1_AF_grpmax_joint=0.844411;gnomADv4_1_AF_joint=0.605105;gnomADv4_1_AF_joint_XX=0.603416;gnomADv4_1_AF_joint_XY=0.606891;gnomADv4_1_AN_grpmax_joint=37554;gnomADv4_1_AN_joint=145226;gnomADv4_1_AN_joint_XX=74640;gnomADv4_1_AN_joint_XY=70586;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=28646;gnomADv4_1_nhomalt_joint_XX=14687;gnomADv4_1_nhomalt_joint_XY=13959;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29417563 chr22_29417563_G_C G C 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=11.14;CADD_Rawscore=1.07521;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs9286736|1592|-1||||||||||||Ensembl||G|G||||chr22:g.29417563G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA|7/7||ENST00000650462.1:n.1454G>C||1454|||||rs9286736||1||||||||||||Ensembl||G|G||||chr22:g.29417563G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-16875G>C|||||||rs9286736||1||||||||||||Ensembl||G|G||||chr22:g.29417563G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+6385G>C|||||||rs9286736||1||||||||||||Ensembl||G|G||||chr22:g.29417563G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+231G>C|||||||rs9286736||1||||||||||||Ensembl||G|G||||chr22:g.29417563G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+1592C>G|||||||rs9286736||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29417563G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+1592C>G|||||||rs9286736||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29417563G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs9286736|2090|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29417563G>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+231G>C|||||||rs9286736||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29417563G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs9286736|2123|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29417563G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs9286736|4551|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29417563G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34650;gnomADv4_1_AC_joint_XX=17464;gnomADv4_1_AC_joint_XY=17186;gnomADv4_1_AF_grpmax_joint=0.432983;gnomADv4_1_AF_joint=0.238423;gnomADv4_1_AF_joint_XX=0.234058;gnomADv4_1_AF_joint_XY=0.243028;gnomADv4_1_AN_grpmax_joint=37274;gnomADv4_1_AN_joint=145330;gnomADv4_1_AN_joint_XX=74614;gnomADv4_1_AN_joint_XY=70716;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5556;gnomADv4_1_nhomalt_joint_XX=2826;gnomADv4_1_nhomalt_joint_XY=2730;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29417784 chr22_29417784_A_C A C 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=11.31;CADD_Rawscore=1.0931;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs9625794|1371|-1||||||||||||Ensembl||A|A||||chr22:g.29417784A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs9625794|27|1||||||||||||Ensembl||A|A||||chr22:g.29417784A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-16654A>C|||||||rs9625794||1||||||||||||Ensembl||A|A||||chr22:g.29417784A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+6606A>C|||||||rs9625794||1||||||||||||Ensembl||A|A||||chr22:g.29417784A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+452A>C|||||||rs9625794||1||||||||||||Ensembl||A|A||||chr22:g.29417784A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+1371T>G|||||||rs9625794||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29417784A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+1371T>G|||||||rs9625794||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29417784A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs9625794|2311|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29417784A>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+452A>C|||||||rs9625794||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29417784A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs9625794|2344|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29417784A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs9625794|4772|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29417784A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40026;gnomADv4_1_AC_joint_XX=20037;gnomADv4_1_AC_joint_XY=19989;gnomADv4_1_AF_grpmax_joint=0.487377;gnomADv4_1_AF_joint=0.264135;gnomADv4_1_AF_joint_XX=0.258649;gnomADv4_1_AF_joint_XY=0.269874;gnomADv4_1_AN_grpmax_joint=41194;gnomADv4_1_AN_joint=151536;gnomADv4_1_AN_joint_XX=77468;gnomADv4_1_AN_joint_XY=74068;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7172;gnomADv4_1_nhomalt_joint_XX=3616;gnomADv4_1_nhomalt_joint_XY=3556;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29417815 chr22_29417815_T_C T C 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=5.931;CADD_Rawscore=0.546193;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs5763222|1340|-1||||||||||||Ensembl||T|T||||chr22:g.29417815T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs5763222|58|1||||||||||||Ensembl||T|T||||chr22:g.29417815T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-16623T>C|||||||rs5763222||1||||||||||||Ensembl||T|T||||chr22:g.29417815T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+6637T>C|||||||rs5763222||1||||||||||||Ensembl||T|T||||chr22:g.29417815T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+483T>C|||||||rs5763222||1||||||||||||Ensembl||T|T||||chr22:g.29417815T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+1340A>G|||||||rs5763222||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29417815T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+1340A>G|||||||rs5763222||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29417815T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs5763222|2342|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29417815T>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+483T>C|||||||rs5763222||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29417815T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs5763222|2375|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29417815T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs5763222|4803|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29417815T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30340;gnomADv4_1_AC_joint_XX=14881;gnomADv4_1_AC_joint_XY=15459;gnomADv4_1_AF_grpmax_joint=0.404669;gnomADv4_1_AF_joint=0.199979;gnomADv4_1_AF_joint_XX=0.191864;gnomADv4_1_AF_joint_XY=0.208466;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151716;gnomADv4_1_AN_joint_XX=77560;gnomADv4_1_AN_joint_XY=74156;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3604;gnomADv4_1_nhomalt_joint_XX=1714;gnomADv4_1_nhomalt_joint_XY=1890;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29417938 chr22_29417938_G_GT G GT 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=27;CADDIndel_PHREDscore=3.449;CADDIndel_Rawscore=0.316105;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs1275094627|1216|-1||||||||||||Ensembl|||||||chr22:g.29417957dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs1275094627|181|1||||||||||||Ensembl|||||||chr22:g.29417957dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-16481dup|||||||rs1275094627||1||||||||||||Ensembl||||||19|chr22:g.29417957dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+6779dup|||||||rs1275094627||1||||||||||||Ensembl||||||19|chr22:g.29417957dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+625dup|||||||rs1275094627||1||||||||||||Ensembl||||||19|chr22:g.29417957dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+1216dup|||||||rs1275094627||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29417957dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+1216dup|||||||rs1275094627||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29417957dup|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs1275094627|2465|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29417957dup|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+625dup|||||||rs1275094627||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||19|chr22:g.29417957dup|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs1275094627|2498|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29417957dup|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068060.1|lncRNA||||||||||rs1275094627|4926|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29417957dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1,XR_007068060.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23065;gnomADv4_1_AC_joint_XX=12469;gnomADv4_1_AC_joint_XY=10596;gnomADv4_1_AF_grpmax_joint=0.299351;gnomADv4_1_AF_joint=0.178306;gnomADv4_1_AF_joint_XX=0.185407;gnomADv4_1_AF_joint_XY=0.170617;gnomADv4_1_AN_grpmax_joint=33910;gnomADv4_1_AN_joint=129356;gnomADv4_1_AN_joint_XX=67252;gnomADv4_1_AN_joint_XY=62104;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2553;gnomADv4_1_nhomalt_joint_XX=1405;gnomADv4_1_nhomalt_joint_XY=1148;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29418335 chr22_29418335_T_C T C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.607;CADD_Rawscore=-0.144531;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs5763223|820|-1||||||||||||Ensembl||T|T||||chr22:g.29418335T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs5763223|578|1||||||||||||Ensembl||T|T||||chr22:g.29418335T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-16103T>C|||||||rs5763223||1||||||||||||Ensembl||T|T||||chr22:g.29418335T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+7157T>C|||||||rs5763223||1||||||||||||Ensembl||T|T||||chr22:g.29418335T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+1003T>C|||||||rs5763223||1||||||||||||Ensembl||T|T||||chr22:g.29418335T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+820A>G|||||||rs5763223||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29418335T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+820A>G|||||||rs5763223||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29418335T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs5763223|2862|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29418335T>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+1003T>C|||||||rs5763223||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29418335T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs5763223|2895|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29418335T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41527;gnomADv4_1_AC_joint_XX=20844;gnomADv4_1_AC_joint_XY=20683;gnomADv4_1_AF_grpmax_joint=0.51775;gnomADv4_1_AF_joint=0.273351;gnomADv4_1_AF_joint_XX=0.268435;gnomADv4_1_AF_joint_XY=0.278491;gnomADv4_1_AN_grpmax_joint=41352;gnomADv4_1_AN_joint=151918;gnomADv4_1_AN_joint_XX=77650;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7867;gnomADv4_1_nhomalt_joint_XX=4009;gnomADv4_1_nhomalt_joint_XY=3858;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29418392 chr22_29418392_A_G A G 49 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.813;CADD_Rawscore=-0.071123;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs6006133|763|-1||||||||||||Ensembl||A|A||||chr22:g.29418392A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs6006133|635|1||||||||||||Ensembl||A|A||||chr22:g.29418392A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-16046A>G|||||||rs6006133||1||||||||||||Ensembl||A|A||||chr22:g.29418392A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+7214A>G|||||||rs6006133||1||||||||||||Ensembl||A|A||||chr22:g.29418392A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+1060A>G|||||||rs6006133||1||||||||||||Ensembl||A|A||||chr22:g.29418392A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+763T>C|||||||rs6006133||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29418392A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+763T>C|||||||rs6006133||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29418392A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs6006133|2919|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29418392A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+1060A>G|||||||rs6006133||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29418392A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs6006133|2952|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29418392A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82028;gnomADv4_1_AC_joint_XX=41775;gnomADv4_1_AC_joint_XY=40253;gnomADv4_1_AF_grpmax_joint=0.729635;gnomADv4_1_AF_joint=0.540163;gnomADv4_1_AF_joint_XX=0.538074;gnomADv4_1_AF_joint_XY=0.542347;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151858;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=74220;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23298;gnomADv4_1_nhomalt_joint_XX=11857;gnomADv4_1_nhomalt_joint_XY=11441;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29418406 chr22_29418406_C_T C T 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.238;CADD_Rawscore=-0.381912;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs6006134|749|-1||||||||||||Ensembl||C|C||||chr22:g.29418406C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs6006134|649|1||||||||||||Ensembl||C|C||||chr22:g.29418406C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-16032C>T|||||||rs6006134||1||||||||||||Ensembl||C|C||||chr22:g.29418406C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+7228C>T|||||||rs6006134||1||||||||||||Ensembl||C|C||||chr22:g.29418406C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+1074C>T|||||||rs6006134||1||||||||||||Ensembl||C|C||||chr22:g.29418406C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+749G>A|||||||rs6006134||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29418406C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+749G>A|||||||rs6006134||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29418406C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs6006134|2933|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29418406C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+1074C>T|||||||rs6006134||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29418406C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs6006134|2966|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29418406C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30349;gnomADv4_1_AC_joint_XX=14880;gnomADv4_1_AC_joint_XY=15469;gnomADv4_1_AF_grpmax_joint=0.403213;gnomADv4_1_AF_joint=0.199738;gnomADv4_1_AF_joint_XX=0.191501;gnomADv4_1_AF_joint_XY=0.208359;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151944;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3605;gnomADv4_1_nhomalt_joint_XX=1719;gnomADv4_1_nhomalt_joint_XY=1886;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29418496 chr22_29418496_C_CT C CT 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=19;CADDIndel_PHREDscore=2.016;CADDIndel_Rawscore=0.166002;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs923537800|658|-1||||||||||||Ensembl|||||||chr22:g.29418517dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs923537800|739|1||||||||||||Ensembl|||||||chr22:g.29418517dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-15921dup|||||||rs923537800||1||||||||||||Ensembl||||||21|chr22:g.29418517dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+7339dup|||||||rs923537800||1||||||||||||Ensembl||||||21|chr22:g.29418517dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+1185dup|||||||rs923537800||1||||||||||||Ensembl||||||21|chr22:g.29418517dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+658dup|||||||rs923537800||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29418517dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+658dup|||||||rs923537800||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29418517dup|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs923537800|3023|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29418517dup|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+1185dup|||||||rs923537800||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||21|chr22:g.29418517dup|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs923537800|3056|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29418517dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7828;gnomADv4_1_AC_joint_XX=4442;gnomADv4_1_AC_joint_XY=3386;gnomADv4_1_AF_grpmax_joint=0.0874414;gnomADv4_1_AF_joint=0.0628896;gnomADv4_1_AF_joint_XX=0.0685388;gnomADv4_1_AF_joint_XY=0.056753;gnomADv4_1_AN_grpmax_joint=58462;gnomADv4_1_AN_joint=124472;gnomADv4_1_AN_joint_XX=64810;gnomADv4_1_AN_joint_XY=59662;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=416;gnomADv4_1_nhomalt_joint_XX=236;gnomADv4_1_nhomalt_joint_XY=180;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29418648 chr22_29418648_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.54;CADD_Rawscore=0.095106;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs174702|507|-1||||||||||||Ensembl||T|T||||chr22:g.29418648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs174702|891|1||||||||||||Ensembl||T|T||||chr22:g.29418648T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-15790T>C|||||||rs174702||1||||||||||||Ensembl||T|T||||chr22:g.29418648T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+7470T>C|||||||rs174702||1||||||||||||Ensembl||T|T||||chr22:g.29418648T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+1316T>C|||||||rs174702||1||||||||||||Ensembl||T|T||||chr22:g.29418648T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+507A>G|||||||rs174702||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29418648T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+507A>G|||||||rs174702||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29418648T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs174702|3175|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29418648T>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+1316T>C|||||||rs174702||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29418648T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs174702|3208|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29418648T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151220;gnomADv4_1_AC_joint_XX=77313;gnomADv4_1_AC_joint_XY=73907;gnomADv4_1_AF_grpmax_joint=0.999806;gnomADv4_1_AF_joint=0.995235;gnomADv4_1_AF_joint_XX=0.995096;gnomADv4_1_AF_joint_XY=0.99538;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151944;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=75256;gnomADv4_1_nhomalt_joint_XX=38470;gnomADv4_1_nhomalt_joint_XY=36786;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29418719 chr22_29418719_C_T C T 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.67;CADD_Rawscore=-0.120017;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs174703|436|-1||||||||||||Ensembl||C|C||||chr22:g.29418719C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs174703|962|1||||||||||||Ensembl||C|C||||chr22:g.29418719C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-15719C>T|||||||rs174703||1||||||||||||Ensembl||C|C||||chr22:g.29418719C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+7541C>T|||||||rs174703||1||||||||||||Ensembl||C|C||||chr22:g.29418719C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+1387C>T|||||||rs174703||1||||||||||||Ensembl||C|C||||chr22:g.29418719C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+436G>A|||||||rs174703||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29418719C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+436G>A|||||||rs174703||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29418719C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs174703|3246|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29418719C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+1387C>T|||||||rs174703||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29418719C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs174703|3279|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29418719C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151089;gnomADv4_1_AC_joint_XX=77203;gnomADv4_1_AC_joint_XY=73886;gnomADv4_1_AF_grpmax_joint=0.996339;gnomADv4_1_AF_joint=0.992557;gnomADv4_1_AF_joint_XX=0.992531;gnomADv4_1_AF_joint_XY=0.992584;gnomADv4_1_AN_grpmax_joint=41520;gnomADv4_1_AN_joint=152222;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=74990;gnomADv4_1_nhomalt_joint_XX=38318;gnomADv4_1_nhomalt_joint_XY=36672;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29418735 chr22_29418735_A_T A T 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.704;CADD_Rawscore=-0.107379;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs12163249|420|-1||||||||||||Ensembl||A|A||||chr22:g.29418735A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs12163249|978|1||||||||||||Ensembl||A|A||||chr22:g.29418735A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-15703A>T|||||||rs12163249||1||||||||||||Ensembl||A|A||||chr22:g.29418735A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+7557A>T|||||||rs12163249||1||||||||||||Ensembl||A|A||||chr22:g.29418735A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+1403A>T|||||||rs12163249||1||||||||||||Ensembl||A|A||||chr22:g.29418735A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||3/5|ENST00000752427.1:n.295+420T>A|||||||rs12163249||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29418735A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||2/4|ENST00000752430.1:n.242+420T>A|||||||rs12163249||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29418735A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs12163249|3262|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29418735A>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+1403A>T|||||||rs12163249||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29418735A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs12163249|3295|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29418735A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96847;gnomADv4_1_AC_joint_XX=49340;gnomADv4_1_AC_joint_XY=47507;gnomADv4_1_AF_grpmax_joint=0.873125;gnomADv4_1_AF_joint=0.637227;gnomADv4_1_AF_joint_XX=0.635121;gnomADv4_1_AF_joint_XY=0.639429;gnomADv4_1_AN_grpmax_joint=41466;gnomADv4_1_AN_joint=151982;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=32865;gnomADv4_1_nhomalt_joint_XX=16752;gnomADv4_1_nhomalt_joint_XY=16113;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29419487 chr22_29419487_C_T C T 21 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=21;CADD_PHREDscore=1.396;CADD_Rawscore=0.06934;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||1/1|ENST00000439655.1:n.70-227G>A|||||||rs6006135||-1||||||||||||Ensembl||C|C||||chr22:g.29419487C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs6006135|1730|1||||||||||||Ensembl||C|C||||chr22:g.29419487C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-14951C>T|||||||rs6006135||1||||||||||||Ensembl||C|C||||chr22:g.29419487C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+8309C>T|||||||rs6006135||1||||||||||||Ensembl||C|C||||chr22:g.29419487C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+2155C>T|||||||rs6006135||1||||||||||||Ensembl||C|C||||chr22:g.29419487C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||2/5|ENST00000752427.1:n.190-227G>A|||||||rs6006135||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29419487C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||1/4|ENST00000752430.1:n.137-227G>A|||||||rs6006135||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29419487C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752431|lncRNA||||||||||rs6006135|4014|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29419487C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+2155C>T|||||||rs6006135||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29419487C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC102723305|102723305|Transcript|XR_007068059.1|lncRNA||||||||||rs6006135|4047|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29419487C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,ENST00000752431,NM_001393612.1,XR_007068059.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,102723305;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,LOC102723305;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39952;gnomADv4_1_AC_joint_XX=20025;gnomADv4_1_AC_joint_XY=19927;gnomADv4_1_AF_grpmax_joint=0.485693;gnomADv4_1_AF_joint=0.263567;gnomADv4_1_AF_joint_XX=0.25828;gnomADv4_1_AF_joint_XY=0.269102;gnomADv4_1_AN_grpmax_joint=41238;gnomADv4_1_AN_joint=151582;gnomADv4_1_AN_joint_XX=77532;gnomADv4_1_AN_joint_XY=74050;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7146;gnomADv4_1_nhomalt_joint_XX=3609;gnomADv4_1_nhomalt_joint_XY=3537;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29420632 chr22_29420632_TGC_T TGC T 29 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=29;CADDIndel_PHREDscore=0.228;CADDIndel_Rawscore=-0.392856;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||1/1|ENST00000439655.1:n.70-1374_70-1373del|||||||rs60882800||-1||||||||||||Ensembl||GC|GC||||chr22:g.29420633_29420634del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs60882800|2876|1||||||||||||Ensembl||GC|GC||||chr22:g.29420633_29420634del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-13805_131-13804del|||||||rs60882800||1||||||||||||Ensembl||GC|GC||||chr22:g.29420633_29420634del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+9455_926+9456del|||||||rs60882800||1||||||||||||Ensembl||GC|GC||||chr22:g.29420633_29420634del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+3301_177+3302del|||||||rs60882800||1||||||||||||Ensembl||GC|GC||||chr22:g.29420633_29420634del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||2/5|ENST00000752427.1:n.190-1374_190-1373del|||||||rs60882800||-1||HGNC|HGNC:9978|||||||||Ensembl||GC|GC||||chr22:g.29420633_29420634del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||1/4|ENST00000752430.1:n.137-1374_137-1373del|||||||rs60882800||-1||HGNC|HGNC:9978|||||||||Ensembl||GC|GC||||chr22:g.29420633_29420634del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+3301_-176+3302del|||||||rs60882800||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||GC|GC||||chr22:g.29420633_29420634del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25547;gnomADv4_1_AC_joint_XX=14221;gnomADv4_1_AC_joint_XY=11326;gnomADv4_1_AF_grpmax_joint=0.601205;gnomADv4_1_AF_joint=0.44334;gnomADv4_1_AF_joint_XX=0.435452;gnomADv4_1_AF_joint_XY=0.453657;gnomADv4_1_AN_grpmax_joint=12282;gnomADv4_1_AN_joint=57624;gnomADv4_1_AN_joint_XX=32658;gnomADv4_1_AN_joint_XY=24966;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9960;gnomADv4_1_nhomalt_joint_XX=5466;gnomADv4_1_nhomalt_joint_XY=4494;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29420892 chr22_29420892_T_C T C 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.23;CADD_Rawscore=0.035998;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||1/1|ENST00000439655.1:n.70-1632A>G|||||||rs9608764||-1||||||||||||Ensembl||T|T||||chr22:g.29420892T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs9608764|3135|1||||||||||||Ensembl||T|T||||chr22:g.29420892T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-13546T>C|||||||rs9608764||1||||||||||||Ensembl||T|T||||chr22:g.29420892T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+9714T>C|||||||rs9608764||1||||||||||||Ensembl||T|T||||chr22:g.29420892T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+3560T>C|||||||rs9608764||1||||||||||||Ensembl||T|T||||chr22:g.29420892T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||2/5|ENST00000752427.1:n.190-1632A>G|||||||rs9608764||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29420892T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||1/4|ENST00000752430.1:n.137-1632A>G|||||||rs9608764||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29420892T>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+3560T>C|||||||rs9608764||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29420892T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73378;gnomADv4_1_AC_joint_XX=37776;gnomADv4_1_AC_joint_XY=35602;gnomADv4_1_AF_grpmax_joint=0.633606;gnomADv4_1_AF_joint=0.484075;gnomADv4_1_AF_joint_XX=0.487244;gnomADv4_1_AF_joint_XY=0.480757;gnomADv4_1_AN_grpmax_joint=41308;gnomADv4_1_AN_joint=151584;gnomADv4_1_AN_joint_XX=77530;gnomADv4_1_AN_joint_XY=74054;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18431;gnomADv4_1_nhomalt_joint_XX=9560;gnomADv4_1_nhomalt_joint_XY=8871;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29421426 chr22_29421426_C_CA C CA 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=38;CADDIndel_PHREDscore=2.704;CADDIndel_Rawscore=0.245196;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||1/1|ENST00000439655.1:n.69+1698dup|||||||rs67012680||-1||||||||||||Ensembl|||||||chr22:g.29421434dup|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs67012680|3669|1||||||||||||Ensembl|||||||chr22:g.29421434dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-13004dup|||||||rs67012680||1||||||||||||Ensembl||||||8|chr22:g.29421434dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+10256dup|||||||rs67012680||1||||||||||||Ensembl||||||8|chr22:g.29421434dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+4102dup|||||||rs67012680||1||||||||||||Ensembl||||||8|chr22:g.29421434dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||2/5|ENST00000752427.1:n.189+1698dup|||||||rs67012680||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29421434dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||1/4|ENST00000752430.1:n.136+1698dup|||||||rs67012680||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29421434dup|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+4102dup|||||||rs67012680||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||8|chr22:g.29421434dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18707;gnomADv4_1_AC_joint_XX=8892;gnomADv4_1_AC_joint_XY=9815;gnomADv4_1_AF_grpmax_joint=0.36131;gnomADv4_1_AF_joint=0.124569;gnomADv4_1_AF_joint_XX=0.11558;gnomADv4_1_AF_joint_XY=0.134011;gnomADv4_1_AN_grpmax_joint=5040;gnomADv4_1_AN_joint=150174;gnomADv4_1_AN_joint_XX=76934;gnomADv4_1_AN_joint_XY=73240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1583;gnomADv4_1_nhomalt_joint_XX=713;gnomADv4_1_nhomalt_joint_XY=870;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29421527 chr22_29421527_T_C T C 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=11;CADD_PHREDscore=1.017;CADD_Rawscore=-0.013576;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||1/1|ENST00000439655.1:n.69+1598A>G|||||||rs117617130||-1||||||||||||Ensembl||T|T||||chr22:g.29421527T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs117617130|3770|1||||||||||||Ensembl||T|T||||chr22:g.29421527T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-12911T>C|||||||rs117617130||1||||||||||||Ensembl||T|T||||chr22:g.29421527T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+10349T>C|||||||rs117617130||1||||||||||||Ensembl||T|T||||chr22:g.29421527T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+4195T>C|||||||rs117617130||1||||||||||||Ensembl||T|T||||chr22:g.29421527T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||2/5|ENST00000752427.1:n.189+1598A>G|||||||rs117617130||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29421527T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||1/4|ENST00000752430.1:n.136+1598A>G|||||||rs117617130||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29421527T>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+4195T>C|||||||rs117617130||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29421527T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2779;gnomADv4_1_AC_joint_XX=1489;gnomADv4_1_AC_joint_XY=1290;gnomADv4_1_AF_grpmax_joint=0.0472441;gnomADv4_1_AF_joint=0.0203799;gnomADv4_1_AF_joint_XX=0.021382;gnomADv4_1_AF_joint_XY=0.019334;gnomADv4_1_AN_grpmax_joint=254;gnomADv4_1_AN_joint=136360;gnomADv4_1_AN_joint_XX=69638;gnomADv4_1_AN_joint_XY=66722;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=133;gnomADv4_1_nhomalt_joint_XX=77;gnomADv4_1_nhomalt_joint_XY=56;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29422719 chr22_29422719_G_T G T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.457;CADD_Rawscore=-0.215932;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||1/1|ENST00000439655.1:n.69+406C>A|||||||rs6006139||-1||||||||||||Ensembl||G|G||||chr22:g.29422719G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000650462|lncRNA||||||||||rs6006139|4962|1||||||||||||Ensembl||G|G||||chr22:g.29422719G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-11719G>T|||||||rs6006139||1||||||||||||Ensembl||G|G||||chr22:g.29422719G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.926+11541G>T|||||||rs6006139||1||||||||||||Ensembl||G|G||||chr22:g.29422719G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+5387G>T|||||||rs6006139||1||||||||||||Ensembl||G|G||||chr22:g.29422719G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||2/5|ENST00000752427.1:n.189+406C>A|||||||rs6006139||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29422719G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||1/4|ENST00000752430.1:n.136+406C>A|||||||rs6006139||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29422719G>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+5387G>T|||||||rs6006139||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29422719G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000439655,ENST00000650462,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29079;gnomADv4_1_AC_joint_XX=14223;gnomADv4_1_AC_joint_XY=14856;gnomADv4_1_AF_grpmax_joint=0.404152;gnomADv4_1_AF_joint=0.191551;gnomADv4_1_AF_joint_XX=0.183291;gnomADv4_1_AF_joint_XY=0.200189;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151808;gnomADv4_1_AN_joint_XX=77598;gnomADv4_1_AN_joint_XY=74210;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3309;gnomADv4_1_nhomalt_joint_XX=1575;gnomADv4_1_nhomalt_joint_XY=1734;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29422808 chr22_29422808_T_TAC;chr22_29422808_T_TACAC T TAC 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.275;CADDIndel_Rawscore=-0.344647;CSQ=AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||1/1|ENST00000439655.1:n.69+315_69+316dup|||||||rs4034937||-1||||||||||||Ensembl|||||||chr22:g.29422825_29422826dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-11613_131-11612dup|||||||rs4034937||1||||||||||||Ensembl||||||18|chr22:g.29422825_29422826dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-11613_927-11612dup|||||||rs4034937||1||||||||||||Ensembl||||||18|chr22:g.29422825_29422826dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+5493_177+5494dup|||||||rs4034937||1||||||||||||Ensembl||||||18|chr22:g.29422825_29422826dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||2/5|ENST00000752427.1:n.189+315_189+316dup|||||||rs4034937||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29422825_29422826dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||1/4|ENST00000752430.1:n.136+315_136+316dup|||||||rs4034937||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29422825_29422826dup|||||||||||||,AC|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+5493_-176+5494dup|||||||rs4034937||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||18|chr22:g.29422825_29422826dup|||||||||||||;TYPE=INDEL;VEP_Allele=AC,AC,AC,AC,AC,AC,AC;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48774;gnomADv4_1_AC_joint_XX=25378;gnomADv4_1_AC_joint_XY=23396;gnomADv4_1_AF_grpmax_joint=0.407906;gnomADv4_1_AF_joint=0.325143;gnomADv4_1_AF_joint_XX=0.330486;gnomADv4_1_AF_joint_XY=0.319539;gnomADv4_1_AN_grpmax_joint=40600;gnomADv4_1_AN_joint=150008;gnomADv4_1_AN_joint_XX=76790;gnomADv4_1_AN_joint_XY=73218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7956;gnomADv4_1_nhomalt_joint_XX=4192;gnomADv4_1_nhomalt_joint_XY=3764;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29422808 chr22_29422808_T_TAC;chr22_29422808_T_TACAC T TACAC 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=0.269;CADDIndel_Rawscore=-0.350194;CSQ=ACAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||1/1|ENST00000439655.1:n.69+313_69+316dup|||||||rs4034937||-1||||||||||||Ensembl|||||||chr22:g.29422823_29422826dup|||||||||||||,ACAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-11615_131-11612dup|||||||rs4034937||1||||||||||||Ensembl||||||18|chr22:g.29422823_29422826dup|||||||||||||,ACAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-11615_927-11612dup|||||||rs4034937||1||||||||||||Ensembl||||||18|chr22:g.29422823_29422826dup|||||||||||||,ACAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+5491_177+5494dup|||||||rs4034937||1||||||||||||Ensembl||||||18|chr22:g.29422823_29422826dup|||||||||||||,ACAC|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||2/5|ENST00000752427.1:n.189+313_189+316dup|||||||rs4034937||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29422823_29422826dup|||||||||||||,ACAC|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||1/4|ENST00000752430.1:n.136+313_136+316dup|||||||rs4034937||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29422823_29422826dup|||||||||||||,ACAC|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+5491_-176+5494dup|||||||rs4034937||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||18|chr22:g.29422823_29422826dup|||||||||||||;TYPE=INDEL;VEP_Allele=ACAC,ACAC,ACAC,ACAC,ACAC,ACAC,ACAC;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26695;gnomADv4_1_AC_joint_XX=13039;gnomADv4_1_AC_joint_XY=13656;gnomADv4_1_AF_grpmax_joint=0.394201;gnomADv4_1_AF_joint=0.177803;gnomADv4_1_AF_joint_XX=0.169651;gnomADv4_1_AF_joint_XY=0.186354;gnomADv4_1_AN_grpmax_joint=5104;gnomADv4_1_AN_joint=150138;gnomADv4_1_AN_joint_XX=76858;gnomADv4_1_AN_joint_XY=73280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2710;gnomADv4_1_nhomalt_joint_XX=1296;gnomADv4_1_nhomalt_joint_XY=1414;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29422827 chr22_29422827_T_A T A 49 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.844;CADD_Rawscore=-0.061503;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||1/1|ENST00000439655.1:n.69+298A>T|||||||rs2078731||-1||||||||||||Ensembl||T|T||||chr22:g.29422827T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-11611T>A|||||||rs2078731||1||||||||||||Ensembl||T|T||||chr22:g.29422827T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-11611T>A|||||||rs2078731||1||||||||||||Ensembl||T|T||||chr22:g.29422827T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+5495T>A|||||||rs2078731||1||||||||||||Ensembl||T|T||||chr22:g.29422827T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||2/5|ENST00000752427.1:n.189+298A>T|||||||rs2078731||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29422827T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||1/4|ENST00000752430.1:n.136+298A>T|||||||rs2078731||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29422827T>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+5495T>A|||||||rs2078731||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29422827T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81275;gnomADv4_1_AC_joint_XX=41398;gnomADv4_1_AC_joint_XY=39877;gnomADv4_1_AF_grpmax_joint=0.728963;gnomADv4_1_AF_joint=0.537249;gnomADv4_1_AF_joint_XX=0.534844;gnomADv4_1_AF_joint_XY=0.539768;gnomADv4_1_AN_grpmax_joint=5110;gnomADv4_1_AN_joint=151280;gnomADv4_1_AN_joint_XX=77402;gnomADv4_1_AN_joint_XY=73878;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=22886;gnomADv4_1_nhomalt_joint_XX=11642;gnomADv4_1_nhomalt_joint_XY=11244;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29422829 chr22_29422829_T_A T A 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.312;CADD_Rawscore=-0.31217;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||1/1|ENST00000439655.1:n.69+296A>T|||||||rs2078732||-1||||||||||||Ensembl||T|T||||chr22:g.29422829T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-11609T>A|||||||rs2078732||1||||||||||||Ensembl||T|T||||chr22:g.29422829T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-11609T>A|||||||rs2078732||1||||||||||||Ensembl||T|T||||chr22:g.29422829T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+5497T>A|||||||rs2078732||1||||||||||||Ensembl||T|T||||chr22:g.29422829T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||2/5|ENST00000752427.1:n.189+296A>T|||||||rs2078732||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29422829T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||1/4|ENST00000752430.1:n.136+296A>T|||||||rs2078732||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29422829T>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+5497T>A|||||||rs2078732||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29422829T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=79958;gnomADv4_1_AC_joint_XX=40706;gnomADv4_1_AC_joint_XY=39252;gnomADv4_1_AF_grpmax_joint=0.72818;gnomADv4_1_AF_joint=0.528208;gnomADv4_1_AF_joint_XX=0.525768;gnomADv4_1_AF_joint_XY=0.530762;gnomADv4_1_AN_grpmax_joint=5110;gnomADv4_1_AN_joint=151376;gnomADv4_1_AN_joint_XX=77422;gnomADv4_1_AN_joint_XY=73954;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21986;gnomADv4_1_nhomalt_joint_XX=11172;gnomADv4_1_nhomalt_joint_XY=10814;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29422865 chr22_29422865_C_T C T 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.097;CADD_Rawscore=-0.61932;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||1/1|ENST00000439655.1:n.69+260G>A|||||||rs2018515||-1||||||||||||Ensembl||C|C||||chr22:g.29422865C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-11573C>T|||||||rs2018515||1||||||||||||Ensembl||C|C||||chr22:g.29422865C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-11573C>T|||||||rs2018515||1||||||||||||Ensembl||C|C||||chr22:g.29422865C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+5533C>T|||||||rs2018515||1||||||||||||Ensembl||C|C||||chr22:g.29422865C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||2/5|ENST00000752427.1:n.189+260G>A|||||||rs2018515||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29422865C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||1/4|ENST00000752430.1:n.136+260G>A|||||||rs2018515||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29422865C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+5533C>T|||||||rs2018515||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29422865C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96320;gnomADv4_1_AC_joint_XX=49114;gnomADv4_1_AC_joint_XY=47206;gnomADv4_1_AF_grpmax_joint=0.869175;gnomADv4_1_AF_joint=0.634502;gnomADv4_1_AF_joint_XX=0.632635;gnomADv4_1_AF_joint_XY=0.636457;gnomADv4_1_AN_grpmax_joint=41460;gnomADv4_1_AN_joint=151804;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74170;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=32544;gnomADv4_1_nhomalt_joint_XX=16614;gnomADv4_1_nhomalt_joint_XY=15930;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29423015 chr22_29423015_CAT_C CAT C 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=23;CADDIndel_PHREDscore=0.24;CADDIndel_Rawscore=-0.379101;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||1/1|ENST00000439655.1:n.69+108_69+109del|||||||rs3044108||-1||||||||||||Ensembl||AT|AT||||chr22:g.29423016_29423017del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-11422_131-11421del|||||||rs3044108||1||||||||||||Ensembl||AT|AT||||chr22:g.29423016_29423017del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-11422_927-11421del|||||||rs3044108||1||||||||||||Ensembl||AT|AT||||chr22:g.29423016_29423017del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+5684_177+5685del|||||||rs3044108||1||||||||||||Ensembl||AT|AT||||chr22:g.29423016_29423017del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||2/5|ENST00000752427.1:n.189+108_189+109del|||||||rs3044108||-1||HGNC|HGNC:9978|||||||||Ensembl||AT|AT||||chr22:g.29423016_29423017del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||1/4|ENST00000752430.1:n.136+108_136+109del|||||||rs3044108||-1||HGNC|HGNC:9978|||||||||Ensembl||AT|AT||||chr22:g.29423016_29423017del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+5684_-176+5685del|||||||rs3044108||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||AT|AT||||chr22:g.29423016_29423017del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=135612;gnomADv4_1_AC_joint_XX=66257;gnomADv4_1_AC_joint_XY=69355;gnomADv4_1_AF_grpmax_joint=0.1927;gnomADv4_1_AF_joint=0.162129;gnomADv4_1_AF_joint_XX=0.165929;gnomADv4_1_AF_joint_XY=0.158658;gnomADv4_1_AN_grpmax_joint=492954;gnomADv4_1_AN_joint=836446;gnomADv4_1_AN_joint_XX=399310;gnomADv4_1_AN_joint_XY=437136;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3365;gnomADv4_1_nhomalt_joint_XX=1716;gnomADv4_1_nhomalt_joint_XY=1649;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29423092 chr22_29423092_G_A G A 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=46;CADD_PHREDscore=0.213;CADD_Rawscore=-0.410684;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||1/1|ENST00000439655.1:n.69+33C>T|||||||rs459310||-1||||||||||||Ensembl||G|G||||chr22:g.29423092G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-11346G>A|||||||rs459310||1||||||||||||Ensembl||G|G||||chr22:g.29423092G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-11346G>A|||||||rs459310||1||||||||||||Ensembl||G|G||||chr22:g.29423092G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+5760G>A|||||||rs459310||1||||||||||||Ensembl||G|G||||chr22:g.29423092G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||2/5|ENST00000752427.1:n.189+33C>T|||||||rs459310||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29423092G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||1/4|ENST00000752430.1:n.136+33C>T|||||||rs459310||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29423092G>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+5760G>A|||||||rs459310||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29423092G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=452760;gnomADv4_1_AC_joint_XX=220453;gnomADv4_1_AC_joint_XY=232307;gnomADv4_1_AF_grpmax_joint=0.723613;gnomADv4_1_AF_joint=0.410852;gnomADv4_1_AF_joint_XX=0.405258;gnomADv4_1_AF_joint_XY=0.416306;gnomADv4_1_AN_grpmax_joint=39394;gnomADv4_1_AN_joint=1102002;gnomADv4_1_AN_joint_XX=543982;gnomADv4_1_AN_joint_XY=558020;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=91931;gnomADv4_1_nhomalt_joint_XX=43389;gnomADv4_1_nhomalt_joint_XY=48542;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29423382 chr22_29423382_C_CTTTTT C CTTTTT 10 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=10;CADDIndel_PHREDscore=0.379;CADDIndel_Rawscore=-0.262953;CSQ=TTTTT|upstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs11424148|189|-1||||||||||||Ensembl|||||||chr22:g.29423390_29423394dup|||||||||||||,TTTTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-11048_131-11044dup|||||||rs11424148||1||||||||||||Ensembl||||||12|chr22:g.29423390_29423394dup|||||||||||||,TTTTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-11048_927-11044dup|||||||rs11424148||1||||||||||||Ensembl||||||12|chr22:g.29423390_29423394dup|||||||||||||,TTTTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+6058_177+6062dup|||||||rs11424148||1||||||||||||Ensembl||||||12|chr22:g.29423390_29423394dup|||||||||||||,TTTTT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-199_126-195dup|||||||rs11424148||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29423390_29423394dup|||||||||||||,TTTTT|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs11424148|122|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29423390_29423394dup|||||||||||||,TTTTT|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+6058_-176+6062dup|||||||rs11424148||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||12|chr22:g.29423390_29423394dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTTT,TTTTT,TTTTT,TTTTT,TTTTT,TTTTT,TTTTT;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7796;gnomADv4_1_AC_joint_XX=3965;gnomADv4_1_AC_joint_XY=3831;gnomADv4_1_AF_grpmax_joint=0.177411;gnomADv4_1_AF_joint=0.0586871;gnomADv4_1_AF_joint_XX=0.0573873;gnomADv4_1_AF_joint_XY=0.060096;gnomADv4_1_AN_grpmax_joint=3692;gnomADv4_1_AN_joint=132840;gnomADv4_1_AN_joint_XX=69092;gnomADv4_1_AN_joint_XY=63748;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=476;gnomADv4_1_nhomalt_joint_XX=248;gnomADv4_1_nhomalt_joint_XY=228;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29423750 chr22_29423750_T_A T A 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=6.11;CADD_Rawscore=0.564321;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs11705312|557|-1||||||||||||Ensembl||T|T||||chr22:g.29423750T>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-10688T>A|||||||rs11705312||1||||||||||||Ensembl||T|T||||chr22:g.29423750T>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-10688T>A|||||||rs11705312||1||||||||||||Ensembl||T|T||||chr22:g.29423750T>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+6418T>A|||||||rs11705312||1||||||||||||Ensembl||T|T||||chr22:g.29423750T>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-562A>T|||||||rs11705312||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29423750T>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs11705312|490|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29423750T>A|||1||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+6418T>A|||||||rs11705312||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29423750T>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24091;gnomADv4_1_AC_joint_XX=12585;gnomADv4_1_AC_joint_XY=11506;gnomADv4_1_AF_grpmax_joint=0.18425;gnomADv4_1_AF_joint=0.158354;gnomADv4_1_AF_joint_XX=0.161815;gnomADv4_1_AF_joint_XY=0.154734;gnomADv4_1_AN_grpmax_joint=68000;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2029;gnomADv4_1_nhomalt_joint_XX=1048;gnomADv4_1_nhomalt_joint_XY=981;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29423822 chr22_29423822_T_G T G 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.081;CADD_Rawscore=-0.669145;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs375832985|629|-1||||||||||||Ensembl||T|T||||chr22:g.29423822T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-10616T>G|||||||rs375832985||1||||||||||||Ensembl||T|T||||chr22:g.29423822T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-10616T>G|||||||rs375832985||1||||||||||||Ensembl||T|T||||chr22:g.29423822T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+6490T>G|||||||rs375832985||1||||||||||||Ensembl||T|T||||chr22:g.29423822T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-634A>C|||||||rs375832985||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29423822T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs375832985|562|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29423822T>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+6490T>G|||||||rs375832985||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29423822T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=225;gnomADv4_1_AC_joint_XX=107;gnomADv4_1_AC_joint_XY=118;gnomADv4_1_AF_grpmax_joint=0.0170068;gnomADv4_1_AF_joint=0.00147708;gnomADv4_1_AF_joint_XX=0.00137472;gnomADv4_1_AF_joint_XY=0.00158402;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152328;gnomADv4_1_AN_joint_XX=77834;gnomADv4_1_AN_joint_XY=74494;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29424040 chr22_29424040_C_T C T 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.729;CADD_Rawscore=0.125422;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs11704649|847|-1||||||||||||Ensembl||C|C||||chr22:g.29424040C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-10398C>T|||||||rs11704649||1||||||||||||Ensembl||C|C||||chr22:g.29424040C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-10398C>T|||||||rs11704649||1||||||||||||Ensembl||C|C||||chr22:g.29424040C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+6708C>T|||||||rs11704649||1||||||||||||Ensembl||C|C||||chr22:g.29424040C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-852G>A|||||||rs11704649||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29424040C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs11704649|780|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29424040C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+6708C>T|||||||rs11704649||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29424040C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26357;gnomADv4_1_AC_joint_XX=13791;gnomADv4_1_AC_joint_XY=12566;gnomADv4_1_AF_grpmax_joint=0.196737;gnomADv4_1_AF_joint=0.173417;gnomADv4_1_AF_joint_XX=0.177522;gnomADv4_1_AF_joint_XY=0.169125;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2434;gnomADv4_1_nhomalt_joint_XX=1246;gnomADv4_1_nhomalt_joint_XY=1188;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29424241 chr22_29424241_A_G A G 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=3.236;CADD_Rawscore=0.296663;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs5763226|1048|-1||||||||||||Ensembl||A|A||||chr22:g.29424241A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-10197A>G|||||||rs5763226||1||||||||||||Ensembl||A|A||||chr22:g.29424241A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-10197A>G|||||||rs5763226||1||||||||||||Ensembl||A|A||||chr22:g.29424241A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+6909A>G|||||||rs5763226||1||||||||||||Ensembl||A|A||||chr22:g.29424241A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-1053T>C|||||||rs5763226||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29424241A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs5763226|981|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29424241A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+6909A>G|||||||rs5763226||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29424241A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27413;gnomADv4_1_AC_joint_XX=14131;gnomADv4_1_AC_joint_XY=13282;gnomADv4_1_AF_grpmax_joint=0.193664;gnomADv4_1_AF_joint=0.180249;gnomADv4_1_AF_joint_XX=0.181857;gnomADv4_1_AF_joint_XY=0.17857;gnomADv4_1_AN_grpmax_joint=41474;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2539;gnomADv4_1_nhomalt_joint_XX=1290;gnomADv4_1_nhomalt_joint_XY=1249;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29424477 chr22_29424477_TGA_T TGA T 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.64;CADDIndel_Rawscore=-0.131513;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs71765615|1285|-1||||||||||||Ensembl||GA|GA||||chr22:g.29424480_29424481del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-9958_131-9957del|||||||rs71765615||1||||||||||||Ensembl||GA|GA|||2|chr22:g.29424480_29424481del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-9958_927-9957del|||||||rs71765615||1||||||||||||Ensembl||GA|GA|||2|chr22:g.29424480_29424481del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+7148_177+7149del|||||||rs71765615||1||||||||||||Ensembl||GA|GA|||2|chr22:g.29424480_29424481del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-1291_126-1290del|||||||rs71765615||-1||HGNC|HGNC:9978|||||||||Ensembl||GA|GA||||chr22:g.29424480_29424481del|||||||||||||,-|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs71765615|1218|-1||HGNC|HGNC:9978|||||||||Ensembl||GA|GA||||chr22:g.29424480_29424481del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+7148_-176+7149del|||||||rs71765615||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||GA|GA|||2|chr22:g.29424480_29424481del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52667;gnomADv4_1_AC_joint_XX=27506;gnomADv4_1_AC_joint_XY=25161;gnomADv4_1_AF_grpmax_joint=0.492012;gnomADv4_1_AF_joint=0.347853;gnomADv4_1_AF_joint_XX=0.355164;gnomADv4_1_AF_joint_XY=0.340197;gnomADv4_1_AN_grpmax_joint=41188;gnomADv4_1_AN_joint=151406;gnomADv4_1_AN_joint_XX=77446;gnomADv4_1_AN_joint_XY=73960;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9924;gnomADv4_1_nhomalt_joint_XX=5253;gnomADv4_1_nhomalt_joint_XY=4671;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29424656 chr22_29424656_TAA_T;chr22_29424656_TAAAAAAA_T;chr22_29424656_TA_T TAA T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=37;CADDIndel_PHREDscore=0.327;CADDIndel_Rawscore=-0.299829;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs59555537|1464|-1||||||||||||Ensembl||AA|AA||||chr22:g.29424678_29424679del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-9760_131-9759del|||||||rs59555537||1||||||||||||Ensembl||AA|AA|||21|chr22:g.29424678_29424679del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-9760_927-9759del|||||||rs59555537||1||||||||||||Ensembl||AA|AA|||21|chr22:g.29424678_29424679del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+7346_177+7347del|||||||rs59555537||1||||||||||||Ensembl||AA|AA|||21|chr22:g.29424678_29424679del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-1470_126-1469del|||||||rs59555537||-1||HGNC|HGNC:9978|||||||||Ensembl||AA|AA||||chr22:g.29424678_29424679del|||||||||||||,-|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs59555537|1397|-1||HGNC|HGNC:9978|||||||||Ensembl||AA|AA||||chr22:g.29424678_29424679del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+7346_-176+7347del|||||||rs59555537||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||AA|AA|||21|chr22:g.29424678_29424679del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44558;gnomADv4_1_AC_joint_XX=23219;gnomADv4_1_AC_joint_XY=21339;gnomADv4_1_AF_grpmax_joint=0.461987;gnomADv4_1_AF_joint=0.365973;gnomADv4_1_AF_joint_XX=0.361295;gnomADv4_1_AF_joint_XY=0.371203;gnomADv4_1_AN_grpmax_joint=3604;gnomADv4_1_AN_joint=121752;gnomADv4_1_AN_joint_XX=64266;gnomADv4_1_AN_joint_XY=57486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=7841;gnomADv4_1_nhomalt_joint_XX=4038;gnomADv4_1_nhomalt_joint_XY=3803;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29424656 chr22_29424656_TAA_T;chr22_29424656_TAAAAAAA_T;chr22_29424656_TA_T TAAAAAAA T 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=37;CADDIndel_PHREDscore=1.605;CADDIndel_Rawscore=0.105958;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs59555537|1464|-1||||||||||||Ensembl||AAAAAAA|AAAAAAA||||chr22:g.29424673_29424679del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-9765_131-9759del|||||||rs59555537||1||||||||||||Ensembl||AAAAAAA|AAAAAAA|||16|chr22:g.29424673_29424679del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-9765_927-9759del|||||||rs59555537||1||||||||||||Ensembl||AAAAAAA|AAAAAAA|||16|chr22:g.29424673_29424679del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+7341_177+7347del|||||||rs59555537||1||||||||||||Ensembl||AAAAAAA|AAAAAAA|||16|chr22:g.29424673_29424679del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-1475_126-1469del|||||||rs59555537||-1||HGNC|HGNC:9978|||||||||Ensembl||AAAAAAA|AAAAAAA||||chr22:g.29424673_29424679del|||||||||||||,-|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs59555537|1397|-1||HGNC|HGNC:9978|||||||||Ensembl||AAAAAAA|AAAAAAA||||chr22:g.29424673_29424679del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+7341_-176+7347del|||||||rs59555537||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||AAAAAAA|AAAAAAA|||16|chr22:g.29424673_29424679del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12431;gnomADv4_1_AC_joint_XX=6460;gnomADv4_1_AC_joint_XY=5971;gnomADv4_1_AF_grpmax_joint=0.134584;gnomADv4_1_AF_joint=0.102011;gnomADv4_1_AF_joint_XX=0.100404;gnomADv4_1_AF_joint_XY=0.103807;gnomADv4_1_AN_grpmax_joint=3626;gnomADv4_1_AN_joint=121860;gnomADv4_1_AN_joint_XX=64340;gnomADv4_1_AN_joint_XY=57520;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=653;gnomADv4_1_nhomalt_joint_XX=324;gnomADv4_1_nhomalt_joint_XY=329;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29424656 chr22_29424656_TAA_T;chr22_29424656_TAAAAAAA_T;chr22_29424656_TA_T TA T 37 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=15;CADDIndel_PHREDscore=0.036;CADDIndel_Rawscore=-0.893708;CSQ=-|upstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs59555537|1464|-1||||||||||||Ensembl||A|A||||chr22:g.29424679del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-9759del|||||||rs59555537||1||||||||||||Ensembl||A|A|||22|chr22:g.29424679del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-9759del|||||||rs59555537||1||||||||||||Ensembl||A|A|||22|chr22:g.29424679del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+7347del|||||||rs59555537||1||||||||||||Ensembl||A|A|||22|chr22:g.29424679del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-1469del|||||||rs59555537||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29424679del|||||||||||||,-|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs59555537|1397|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29424679del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+7347del|||||||rs59555537||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A|||22|chr22:g.29424679del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49180;gnomADv4_1_AC_joint_XX=26446;gnomADv4_1_AC_joint_XY=22734;gnomADv4_1_AF_grpmax_joint=0.5;gnomADv4_1_AF_joint=0.405428;gnomADv4_1_AF_joint_XX=0.412909;gnomADv4_1_AF_joint_XY=0.397059;gnomADv4_1_AN_grpmax_joint=242;gnomADv4_1_AN_joint=121304;gnomADv4_1_AN_joint_XX=64048;gnomADv4_1_AN_joint_XY=57256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9698;gnomADv4_1_nhomalt_joint_XX=5239;gnomADv4_1_nhomalt_joint_XY=4459;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29424829 chr22_29424829_T_C T C 10 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=10;CADD_PHREDscore=1.007;CADD_Rawscore=-0.016028;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs1051531565|1636|-1||||||||||||Ensembl||T|T||||chr22:g.29424829T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-9609T>C|||||||rs1051531565||1||||||||||||Ensembl||T|T||||chr22:g.29424829T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-9609T>C|||||||rs1051531565||1||||||||||||Ensembl||T|T||||chr22:g.29424829T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+7497T>C|||||||rs1051531565||1||||||||||||Ensembl||T|T||||chr22:g.29424829T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-1641A>G|||||||rs1051531565||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29424829T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs1051531565|1569|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29424829T>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+7497T>C|||||||rs1051531565||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29424829T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1444;gnomADv4_1_AC_joint_XX=814;gnomADv4_1_AC_joint_XY=630;gnomADv4_1_AF_grpmax_joint=0.084292;gnomADv4_1_AF_joint=0.0789157;gnomADv4_1_AF_joint_XX=0.0814163;gnomADv4_1_AF_joint_XY=0.0759036;gnomADv4_1_AN_grpmax_joint=9562;gnomADv4_1_AN_joint=18298;gnomADv4_1_AN_joint_XX=9998;gnomADv4_1_AN_joint_XY=8300;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29425124 chr22_29425124_G_A G A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.098;CADD_Rawscore=0.006401;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs9608765|1931|-1||||||||||||Ensembl||G|G||||chr22:g.29425124G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-9314G>A|||||||rs9608765||1||||||||||||Ensembl||G|G||||chr22:g.29425124G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-9314G>A|||||||rs9608765||1||||||||||||Ensembl||G|G||||chr22:g.29425124G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+7792G>A|||||||rs9608765||1||||||||||||Ensembl||G|G||||chr22:g.29425124G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-1936C>T|||||||rs9608765||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29425124G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs9608765|1864|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29425124G>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+7792G>A|||||||rs9608765||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29425124G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20607;gnomADv4_1_AC_joint_XX=10200;gnomADv4_1_AC_joint_XY=10407;gnomADv4_1_AF_grpmax_joint=0.176371;gnomADv4_1_AF_joint=0.138499;gnomADv4_1_AF_joint_XX=0.133697;gnomADv4_1_AF_joint_XY=0.143553;gnomADv4_1_AN_grpmax_joint=4706;gnomADv4_1_AN_joint=148788;gnomADv4_1_AN_joint_XX=76292;gnomADv4_1_AN_joint_XY=72496;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1725;gnomADv4_1_nhomalt_joint_XX=840;gnomADv4_1_nhomalt_joint_XY=885;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29425135 chr22_29425135_T_C T C 27 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=27;CADD_PHREDscore=1.295;CADD_Rawscore=0.049577;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs5997477|1942|-1||||||||||||Ensembl||T|T||||chr22:g.29425135T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-9303T>C|||||||rs5997477||1||||||||||||Ensembl||T|T||||chr22:g.29425135T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-9303T>C|||||||rs5997477||1||||||||||||Ensembl||T|T||||chr22:g.29425135T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.177+7803T>C|||||||rs5997477||1||||||||||||Ensembl||T|T||||chr22:g.29425135T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-1947A>G|||||||rs5997477||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29425135T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs5997477|1875|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29425135T>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-176+7803T>C|||||||rs5997477||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29425135T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69949;gnomADv4_1_AC_joint_XX=35749;gnomADv4_1_AC_joint_XY=34200;gnomADv4_1_AF_grpmax_joint=0.735876;gnomADv4_1_AF_joint=0.482833;gnomADv4_1_AF_joint_XX=0.477877;gnomADv4_1_AF_joint_XY=0.488125;gnomADv4_1_AN_grpmax_joint=39932;gnomADv4_1_AN_joint=144872;gnomADv4_1_AN_joint_XX=74808;gnomADv4_1_AN_joint_XY=70064;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18598;gnomADv4_1_nhomalt_joint_XX=9538;gnomADv4_1_nhomalt_joint_XY=9060;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29427779 chr22_29427779_A_G A G 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=6.307;CADD_Rawscore=0.584636;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs5752915|4586|-1||||||||||||Ensembl||A|A||||chr22:g.29427779A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-6659A>G|||||||rs5752915||1||||||||||||Ensembl||A|A||||chr22:g.29427779A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-6659A>G|||||||rs5752915||1||||||||||||Ensembl||A|A||||chr22:g.29427779A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.178-6659A>G|||||||rs5752915||1||||||||||||Ensembl||A|A||||chr22:g.29427779A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-4591T>C|||||||rs5752915||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29427779A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs5752915|4519|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29427779A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-175-6659A>G|||||||rs5752915||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29427779A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000439655,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68757;gnomADv4_1_AC_joint_XX=34840;gnomADv4_1_AC_joint_XY=33917;gnomADv4_1_AF_grpmax_joint=0.649966;gnomADv4_1_AF_joint=0.452438;gnomADv4_1_AF_joint_XX=0.44838;gnomADv4_1_AF_joint_XY=0.456684;gnomADv4_1_AN_grpmax_joint=41436;gnomADv4_1_AN_joint=151970;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17029;gnomADv4_1_nhomalt_joint_XX=8632;gnomADv4_1_nhomalt_joint_XY=8397;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29428135 chr22_29428135_A_G A G 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=7.199;CADD_Rawscore=0.679841;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs5752916|4942|-1||||||||||||Ensembl||A|A||||chr22:g.29428135A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs5752916|4809|1||HGNC|HGNC:45142|||||||||Ensembl||A|A||||chr22:g.29428135A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-6303A>G|||||||rs5752916||1||||||||||||Ensembl||A|A||||chr22:g.29428135A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-6303A>G|||||||rs5752916||1||||||||||||Ensembl||A|A||||chr22:g.29428135A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.178-6303A>G|||||||rs5752916||1||||||||||||Ensembl||A|A||||chr22:g.29428135A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-4947T>C|||||||rs5752916||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29428135A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs5752916|4875|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29428135A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-175-6303A>G|||||||rs5752916||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29428135A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000439655,ENST00000616792,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000278292,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,RFPL4AP6,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19339;gnomADv4_1_AC_joint_XX=9485;gnomADv4_1_AC_joint_XY=9854;gnomADv4_1_AF_grpmax_joint=0.176337;gnomADv4_1_AF_joint=0.12704;gnomADv4_1_AF_joint_XX=0.121899;gnomADv4_1_AF_joint_XY=0.132414;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152228;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1699;gnomADv4_1_nhomalt_joint_XX=826;gnomADv4_1_nhomalt_joint_XY=873;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29428187 chr22_29428187_G_A G A 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=6.185;CADD_Rawscore=0.572069;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000242156|Transcript|ENST00000439655|transcribed_unprocessed_pseudogene||||||||||rs5752917|4994|-1||||||||||||Ensembl||G|G||||chr22:g.29428187G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs5752917|4757|1||HGNC|HGNC:45142|||||||||Ensembl||G|G||||chr22:g.29428187G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-6251G>A|||||||rs5752917||1||||||||||||Ensembl||G|G||||chr22:g.29428187G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-6251G>A|||||||rs5752917||1||||||||||||Ensembl||G|G||||chr22:g.29428187G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.178-6251G>A|||||||rs5752917||1||||||||||||Ensembl||G|G||||chr22:g.29428187G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-4999C>T|||||||rs5752917||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29428187G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752430|lncRNA||||||||||rs5752917|4927|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29428187G>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-175-6251G>A|||||||rs5752917||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29428187G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000439655,ENST00000616792,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752430,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000242156,ENSG00000278292,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988;VEP_SYMBOL=.,RFPL4AP6,.,.,.,RFPL1S,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19259;gnomADv4_1_AC_joint_XX=9455;gnomADv4_1_AC_joint_XY=9804;gnomADv4_1_AF_grpmax_joint=0.176275;gnomADv4_1_AF_joint=0.126596;gnomADv4_1_AF_joint_XX=0.121583;gnomADv4_1_AF_joint_XY=0.131838;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1701;gnomADv4_1_nhomalt_joint_XX=828;gnomADv4_1_nhomalt_joint_XY=873;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29428534 chr22_29428534_C_T C T 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=3.744;CADD_Rawscore=0.342509;CSQ=T|upstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs174709|4410|1||HGNC|HGNC:45142|||||||||Ensembl||C|C||||chr22:g.29428534C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-5904C>T|||||||rs174709||1||||||||||||Ensembl||C|C||||chr22:g.29428534C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-5904C>T|||||||rs174709||1||||||||||||Ensembl||C|C||||chr22:g.29428534C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.178-5904C>T|||||||rs174709||1||||||||||||Ensembl||C|C||||chr22:g.29428534C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-5346G>A|||||||rs174709||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29428534C>T|||1||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-175-5904C>T|||||||rs174709||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29428534C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000616792,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000278292,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,5988;VEP_SYMBOL=RFPL4AP6,.,.,.,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=48995;gnomADv4_1_AC_joint_XX=25216;gnomADv4_1_AC_joint_XY=23779;gnomADv4_1_AF_grpmax_joint=0.520408;gnomADv4_1_AF_joint=0.322174;gnomADv4_1_AF_joint_XX=0.324422;gnomADv4_1_AF_joint_XY=0.319825;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9787;gnomADv4_1_nhomalt_joint_XX=5059;gnomADv4_1_nhomalt_joint_XY=4728;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29428721 chr22_29428721_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.571;CADD_Rawscore=-0.159814;CSQ=T|upstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs174710|4223|1||HGNC|HGNC:45142|||||||||Ensembl||C|C||||chr22:g.29428721C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-5717C>T|||||||rs174710||1||||||||||||Ensembl||C|C||||chr22:g.29428721C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-5717C>T|||||||rs174710||1||||||||||||Ensembl||C|C||||chr22:g.29428721C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.178-5717C>T|||||||rs174710||1||||||||||||Ensembl||C|C||||chr22:g.29428721C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-5533G>A|||||||rs174710||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29428721C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-175-5717C>T|||||||rs174710||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29428721C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000616792,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000278292,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,5988;VEP_SYMBOL=RFPL4AP6,.,.,.,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=139858;gnomADv4_1_AC_joint_XX=71536;gnomADv4_1_AC_joint_XY=68322;gnomADv4_1_AF_grpmax_joint=0.967052;gnomADv4_1_AF_joint=0.918559;gnomADv4_1_AF_joint_XX=0.919368;gnomADv4_1_AF_joint_XY=0.917714;gnomADv4_1_AN_grpmax_joint=41550;gnomADv4_1_AN_joint=152258;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=64515;gnomADv4_1_nhomalt_joint_XX=33020;gnomADv4_1_nhomalt_joint_XY=31495;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29428854 chr22_29428854_G_A G A 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=9.776;CADD_Rawscore=0.951341;CSQ=A|upstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs5752918|4090|1||HGNC|HGNC:45142|||||||||Ensembl||G|G||||chr22:g.29428854G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-5584G>A|||||||rs5752918||1||||||||||||Ensembl||G|G||||chr22:g.29428854G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-5584G>A|||||||rs5752918||1||||||||||||Ensembl||G|G||||chr22:g.29428854G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.178-5584G>A|||||||rs5752918||1||||||||||||Ensembl||G|G||||chr22:g.29428854G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-5666C>T|||||||rs5752918||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29428854G>A|||1||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-175-5584G>A|||||||rs5752918||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29428854G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000616792,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000278292,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,5988;VEP_SYMBOL=RFPL4AP6,.,.,.,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=19286;gnomADv4_1_AC_joint_XX=9462;gnomADv4_1_AC_joint_XY=9824;gnomADv4_1_AF_grpmax_joint=0.176837;gnomADv4_1_AF_joint=0.126783;gnomADv4_1_AF_joint_XX=0.121657;gnomADv4_1_AF_joint_XY=0.132146;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1680;gnomADv4_1_nhomalt_joint_XX=817;gnomADv4_1_nhomalt_joint_XY=863;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29429068 chr22_29429068_T_C T C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=5.207;CADD_Rawscore=0.475407;CSQ=C|upstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs5763231|3876|1||HGNC|HGNC:45142|||||||||Ensembl||T|T||||chr22:g.29429068T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-5370T>C|||||||rs5763231||1||||||||||||Ensembl||T|T||||chr22:g.29429068T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-5370T>C|||||||rs5763231||1||||||||||||Ensembl||T|T||||chr22:g.29429068T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.178-5370T>C|||||||rs5763231||1||||||||||||Ensembl||T|T||||chr22:g.29429068T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-5880A>G|||||||rs5763231||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29429068T>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-175-5370T>C|||||||rs5763231||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29429068T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000616792,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000278292,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,5988;VEP_SYMBOL=RFPL4AP6,.,.,.,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=19319;gnomADv4_1_AC_joint_XX=9476;gnomADv4_1_AC_joint_XY=9843;gnomADv4_1_AF_grpmax_joint=0.176958;gnomADv4_1_AF_joint=0.126938;gnomADv4_1_AF_joint_XX=0.121787;gnomADv4_1_AF_joint_XY=0.132327;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152192;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1698;gnomADv4_1_nhomalt_joint_XX=827;gnomADv4_1_nhomalt_joint_XY=871;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29429418 chr22_29429418_A_G A G 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=6.754;CADD_Rawscore=0.631631;CSQ=G|upstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs174711|3526|1||HGNC|HGNC:45142|||||||||Ensembl||A|A||||chr22:g.29429418A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-5020A>G|||||||rs174711||1||||||||||||Ensembl||A|A||||chr22:g.29429418A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-5020A>G|||||||rs174711||1||||||||||||Ensembl||A|A||||chr22:g.29429418A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.178-5020A>G|||||||rs174711||1||||||||||||Ensembl||A|A||||chr22:g.29429418A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-6230T>C|||||||rs174711||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29429418A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-175-5020A>G|||||||rs174711||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29429418A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000616792,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000278292,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,5988;VEP_SYMBOL=RFPL4AP6,.,.,.,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=94348;gnomADv4_1_AC_joint_XX=48472;gnomADv4_1_AC_joint_XY=45876;gnomADv4_1_AF_grpmax_joint=0.789923;gnomADv4_1_AF_joint=0.621684;gnomADv4_1_AF_joint_XX=0.62451;gnomADv4_1_AF_joint_XY=0.618725;gnomADv4_1_AN_grpmax_joint=67880;gnomADv4_1_AN_joint=151762;gnomADv4_1_AN_joint_XX=77616;gnomADv4_1_AN_joint_XY=74146;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=32467;gnomADv4_1_nhomalt_joint_XX=16760;gnomADv4_1_nhomalt_joint_XY=15707;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29430623 chr22_29430623_C_T C T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=5.904;CADD_Rawscore=0.543463;CSQ=T|upstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs9613908|2321|1||HGNC|HGNC:45142|||||||||Ensembl||C|C||||chr22:g.29430623C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-3815C>T|||||||rs9613908||1||||||||||||Ensembl||C|C||||chr22:g.29430623C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-3815C>T|||||||rs9613908||1||||||||||||Ensembl||C|C||||chr22:g.29430623C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.178-3815C>T|||||||rs9613908||1||||||||||||Ensembl||C|C||||chr22:g.29430623C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-7435G>A|||||||rs9613908||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29430623C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-175-3815C>T|||||||rs9613908||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29430623C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000616792,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000278292,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,5988;VEP_SYMBOL=RFPL4AP6,.,.,.,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=19202;gnomADv4_1_AC_joint_XX=9437;gnomADv4_1_AC_joint_XY=9765;gnomADv4_1_AF_grpmax_joint=0.17558;gnomADv4_1_AF_joint=0.126329;gnomADv4_1_AF_joint_XX=0.121417;gnomADv4_1_AF_joint_XY=0.131469;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152000;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1679;gnomADv4_1_nhomalt_joint_XX=819;gnomADv4_1_nhomalt_joint_XY=860;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29431333 chr22_29431333_A_C A C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.415;CADD_Rawscore=0.072738;CSQ=C|upstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs174712|1611|1||HGNC|HGNC:45142|||||||||Ensembl||A|A||||chr22:g.29431333A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-3105A>C|||||||rs174712||1||||||||||||Ensembl||A|A||||chr22:g.29431333A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-3105A>C|||||||rs174712||1||||||||||||Ensembl||A|A||||chr22:g.29431333A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.178-3105A>C|||||||rs174712||1||||||||||||Ensembl||A|A||||chr22:g.29431333A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-8145T>G|||||||rs174712||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29431333A>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-175-3105A>C|||||||rs174712||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29431333A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000616792,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,NM_001393612.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000278292,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,5988;VEP_SYMBOL=RFPL4AP6,.,.,.,RFPL1S,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=140270;gnomADv4_1_AC_joint_XX=71772;gnomADv4_1_AC_joint_XY=68498;gnomADv4_1_AF_grpmax_joint=0.97164;gnomADv4_1_AF_joint=0.921205;gnomADv4_1_AF_joint_XX=0.922235;gnomADv4_1_AF_joint_XY=0.920128;gnomADv4_1_AN_grpmax_joint=41572;gnomADv4_1_AN_joint=152268;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=64899;gnomADv4_1_nhomalt_joint_XX=33236;gnomADv4_1_nhomalt_joint_XY=31663;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29432051 chr22_29432051_C_T C T 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=39;CADD_PHREDscore=0.997;CADD_Rawscore=-0.018473;CSQ=T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||||||||||rs9608766|4483|-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29432051C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs9608766|893|1||HGNC|HGNC:45142|||||||||Ensembl||C|C||||chr22:g.29432051C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-2387C>T|||||||rs9608766||1||||||||||||Ensembl||C|C||||chr22:g.29432051C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-2387C>T|||||||rs9608766||1||||||||||||Ensembl||C|C||||chr22:g.29432051C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.178-2387C>T|||||||rs9608766||1||||||||||||Ensembl||C|C||||chr22:g.29432051C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-8863G>A|||||||rs9608766||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29432051C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-175-2387C>T|||||||rs9608766||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29432051C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs9608766|4964|-1||EntrezGene|HGNC:9978|||||||||RefSeq||C|C|OK|||chr22:g.29432051C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000461286,ENST00000616792,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,NM_001393612.1,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000278292,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,5988,10740;VEP_SYMBOL=RFPL1S,RFPL4AP6,.,.,.,RFPL1S,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19326;gnomADv4_1_AC_joint_XX=9496;gnomADv4_1_AC_joint_XY=9830;gnomADv4_1_AF_grpmax_joint=0.169791;gnomADv4_1_AF_joint=0.127059;gnomADv4_1_AF_joint_XX=0.122119;gnomADv4_1_AF_joint_XY=0.132227;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1698;gnomADv4_1_nhomalt_joint_XX=819;gnomADv4_1_nhomalt_joint_XY=879;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29432296 chr22_29432296_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.508;CADD_Rawscore=-0.189015;CSQ=T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||||||||||rs5763233|4238|-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29432296C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs5763233|648|1||HGNC|HGNC:45142|||||||||Ensembl||C|C||||chr22:g.29432296C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-2142C>T|||||||rs5763233||1||||||||||||Ensembl||C|C||||chr22:g.29432296C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-2142C>T|||||||rs5763233||1||||||||||||Ensembl||C|C||||chr22:g.29432296C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.178-2142C>T|||||||rs5763233||1||||||||||||Ensembl||C|C||||chr22:g.29432296C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-9108G>A|||||||rs5763233||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29432296C>T|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-175-2142C>T|||||||rs5763233||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29432296C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs5763233|4719|-1||EntrezGene|HGNC:9978|||||||||RefSeq||C|C|OK|||chr22:g.29432296C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000461286,ENST00000616792,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,NM_001393612.1,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000278292,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,5988,10740;VEP_SYMBOL=RFPL1S,RFPL4AP6,.,.,.,RFPL1S,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64804;gnomADv4_1_AC_joint_XX=32889;gnomADv4_1_AC_joint_XY=31915;gnomADv4_1_AF_grpmax_joint=0.566351;gnomADv4_1_AF_joint=0.42632;gnomADv4_1_AF_joint_XX=0.423216;gnomADv4_1_AF_joint_XY=0.429566;gnomADv4_1_AN_grpmax_joint=41446;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=14640;gnomADv4_1_nhomalt_joint_XX=7415;gnomADv4_1_nhomalt_joint_XY=7225;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29433806 chr22_29433806_T_C T C 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=3.323;CADD_Rawscore=0.304674;CSQ=C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs174714|4616|-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29433806T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs174714|4777|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||T|T||||chr22:g.29433806T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||||||||||rs174714|2728|-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29433806T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||2/2|ENST00000616792.1:n.272+259T>C|||||||rs174714||1||HGNC|HGNC:45142|||||||||Ensembl||T|T||||chr22:g.29433806T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-632T>C|||||||rs174714||1||||||||||||Ensembl||T|T||||chr22:g.29433806T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-632T>C|||||||rs174714||1||||||||||||Ensembl||T|T||||chr22:g.29433806T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.178-632T>C|||||||rs174714||1||||||||||||Ensembl||T|T||||chr22:g.29433806T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-10618A>G|||||||rs174714||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29433806T>C|||||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-175-632T>C|||||||rs174714||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29433806T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs174714|4777|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||T|T||||chr22:g.29433806T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs174714|3209|-1||EntrezGene|HGNC:9978|||||||||RefSeq||T|T|OK|||chr22:g.29433806T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,.,.,.,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48203;gnomADv4_1_AC_joint_XX=24826;gnomADv4_1_AC_joint_XY=23377;gnomADv4_1_AF_grpmax_joint=0.465986;gnomADv4_1_AF_joint=0.316992;gnomADv4_1_AF_joint_XX=0.319314;gnomADv4_1_AF_joint_XY=0.314562;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9425;gnomADv4_1_nhomalt_joint_XX=4887;gnomADv4_1_nhomalt_joint_XY=4538;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29433878 chr22_29433878_G_A G A 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.739;CADD_Rawscore=-0.095221;CSQ=A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs150060506|4544|-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29433878G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs150060506|4705|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||G|G||||chr22:g.29433878G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||||||||||rs150060506|2656|-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29433878G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||2/2|ENST00000616792.1:n.272+331G>A|||||||rs150060506||1||HGNC|HGNC:45142|||||||||Ensembl||G|G||||chr22:g.29433878G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||1/1|ENST00000752284.1:n.131-560G>A|||||||rs150060506||1||||||||||||Ensembl||G|G||||chr22:g.29433878G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||2/2|ENST00000752285.1:n.927-560G>A|||||||rs150060506||1||||||||||||Ensembl||G|G||||chr22:g.29433878G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||1/1|ENST00000752286.1:n.178-560G>A|||||||rs150060506||1||||||||||||Ensembl||G|G||||chr22:g.29433878G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-10690C>T|||||||rs150060506||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29433878G>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||7/9|NM_001393612.1:c.-175-560G>A|||||||rs150060506||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29433878G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs150060506|4705|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||G|G||||chr22:g.29433878G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs150060506|3137|-1||EntrezGene|HGNC:9978|||||||||RefSeq||G|G|OK|||chr22:g.29433878G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,.,.,.,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2480;gnomADv4_1_AC_joint_XX=1279;gnomADv4_1_AC_joint_XY=1201;gnomADv4_1_AF_grpmax_joint=0.0578231;gnomADv4_1_AF_joint=0.0162956;gnomADv4_1_AF_joint_XX=0.0164409;gnomADv4_1_AF_joint_XY=0.0161438;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152188;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=29;gnomADv4_1_nhomalt_joint_XX=13;gnomADv4_1_nhomalt_joint_XY=16;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29435288 chr22_29435288_G_A G A 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.927;CADD_Rawscore=-0.037311;CSQ=A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs1807682|3134|-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29435288G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs1807682|3295|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||G|G||||chr22:g.29435288G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||||||||||rs1807682|1246|-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29435288G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs1807682|283|1||HGNC|HGNC:45142|||||||||Ensembl||G|G||||chr22:g.29435288G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs1807682|113|1||||||||||||Ensembl||G|G||||chr22:g.29435288G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs1807682|113|1||||||||||||Ensembl||G|G||||chr22:g.29435288G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs1807682|100|1||||||||||||Ensembl||G|G||||chr22:g.29435288G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-12100C>T|||||||rs1807682||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29435288G>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||8/9|NM_001393612.1:c.-6+681G>A|||||||rs1807682||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29435288G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs1807682|3295|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||G|G||||chr22:g.29435288G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs1807682|1727|-1||EntrezGene|HGNC:9978|||||||||RefSeq||G|G|OK|||chr22:g.29435288G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,.,.,.,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15695;gnomADv4_1_AC_joint_XX=8101;gnomADv4_1_AC_joint_XY=7594;gnomADv4_1_AF_grpmax_joint=0.118721;gnomADv4_1_AF_joint=0.103149;gnomADv4_1_AF_joint_XX=0.104163;gnomADv4_1_AF_joint_XY=0.102089;gnomADv4_1_AN_grpmax_joint=68008;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=867;gnomADv4_1_nhomalt_joint_XX=427;gnomADv4_1_nhomalt_joint_XY=440;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29436016 chr22_29436016_G_A G A 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=5.474;CADD_Rawscore=0.50107;CSQ=A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs1974480|2406|-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29436016G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs1974480|2567|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||G|G||||chr22:g.29436016G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||||||||||rs1974480|518|-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29436016G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs1974480|1011|1||HGNC|HGNC:45142|||||||||Ensembl||G|G||||chr22:g.29436016G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs1974480|4550|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29436016G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs1974480|4751|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29436016G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs1974480|4751|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29436016G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs1974480|841|1||||||||||||Ensembl||G|G||||chr22:g.29436016G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs1974480|841|1||||||||||||Ensembl||G|G||||chr22:g.29436016G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs1974480|828|1||||||||||||Ensembl||G|G||||chr22:g.29436016G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-12828C>T|||||||rs1974480||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29436016G>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||8/9|NM_001393612.1:c.-6+1409G>A|||||||rs1974480||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29436016G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs1974480|2567|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||G|G||||chr22:g.29436016G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs1974480|999|-1||EntrezGene|HGNC:9978|||||||||RefSeq||G|G|OK|||chr22:g.29436016G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,RFPL1S,RFPL1S,RFPL1S,.,.,.,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48188;gnomADv4_1_AC_joint_XX=24820;gnomADv4_1_AC_joint_XY=23368;gnomADv4_1_AF_grpmax_joint=0.465986;gnomADv4_1_AF_joint=0.317056;gnomADv4_1_AF_joint_XX=0.3195;gnomADv4_1_AF_joint_XY=0.3145;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9424;gnomADv4_1_nhomalt_joint_XX=4892;gnomADv4_1_nhomalt_joint_XY=4532;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29436111 chr22_29436111_A_G A G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.487;CADD_Rawscore=0.22223;CSQ=G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs174715|2311|-1||HGNC|HGNC:9978|1||||||||Ensembl||A|A||||chr22:g.29436111A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs174715|2472|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||A|A||||chr22:g.29436111A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||||||||||rs174715|423|-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29436111A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs174715|1106|1||HGNC|HGNC:45142|||||||||Ensembl||A|A||||chr22:g.29436111A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs174715|4455|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29436111A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs174715|4656|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29436111A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs174715|4656|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29436111A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs174715|936|1||||||||||||Ensembl||A|A||||chr22:g.29436111A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs174715|936|1||||||||||||Ensembl||A|A||||chr22:g.29436111A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs174715|923|1||||||||||||Ensembl||A|A||||chr22:g.29436111A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-12923T>C|||||||rs174715||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29436111A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||8/9|NM_001393612.1:c.-6+1504A>G|||||||rs174715||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29436111A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs174715|2472|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||A|A||||chr22:g.29436111A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs174715|904|-1||EntrezGene|HGNC:9978|||||||||RefSeq||A|A|OK|||chr22:g.29436111A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,RFPL1S,RFPL1S,RFPL1S,.,.,.,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=122085;gnomADv4_1_AC_joint_XX=62395;gnomADv4_1_AC_joint_XY=59690;gnomADv4_1_AF_grpmax_joint=0.857203;gnomADv4_1_AF_joint=0.806811;gnomADv4_1_AF_joint_XX=0.806241;gnomADv4_1_AF_joint_XY=0.807407;gnomADv4_1_AN_grpmax_joint=4790;gnomADv4_1_AN_joint=151318;gnomADv4_1_AN_joint_XX=77390;gnomADv4_1_AN_joint_XY=73928;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=49415;gnomADv4_1_nhomalt_joint_XX=25218;gnomADv4_1_nhomalt_joint_XY=24197;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29436164 chr22_29436164_A_G A G 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=4.021;CADD_Rawscore=0.367113;CSQ=G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs12484616|2258|-1||HGNC|HGNC:9978|1||||||||Ensembl||A|A||||chr22:g.29436164A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs12484616|2419|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||A|A||||chr22:g.29436164A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||||||||||rs12484616|370|-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29436164A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs12484616|1159|1||HGNC|HGNC:45142|||||||||Ensembl||A|A||||chr22:g.29436164A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs12484616|4402|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29436164A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs12484616|4603|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29436164A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs12484616|4603|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29436164A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs12484616|989|1||||||||||||Ensembl||A|A||||chr22:g.29436164A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs12484616|989|1||||||||||||Ensembl||A|A||||chr22:g.29436164A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs12484616|976|1||||||||||||Ensembl||A|A||||chr22:g.29436164A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-12976T>C|||||||rs12484616||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29436164A>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||8/9|NM_001393612.1:c.-6+1557A>G|||||||rs12484616||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29436164A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs12484616|2419|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||A|A||||chr22:g.29436164A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs12484616|851|-1||EntrezGene|HGNC:9978|||||||||RefSeq||A|A|OK|||chr22:g.29436164A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,RFPL1S,RFPL1S,RFPL1S,.,.,.,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47963;gnomADv4_1_AC_joint_XX=24738;gnomADv4_1_AC_joint_XY=23225;gnomADv4_1_AF_grpmax_joint=0.465986;gnomADv4_1_AF_joint=0.316324;gnomADv4_1_AF_joint_XX=0.319002;gnomADv4_1_AF_joint_XY=0.313521;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151626;gnomADv4_1_AN_joint_XX=77548;gnomADv4_1_AN_joint_XY=74078;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9335;gnomADv4_1_nhomalt_joint_XX=4856;gnomADv4_1_nhomalt_joint_XY=4479;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29436405 chr22_29436405_G_A G A 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.761;CADD_Rawscore=-0.087718;CSQ=A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs174716|2017|-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29436405G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs174716|2178|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||G|G||||chr22:g.29436405G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||||||||||rs174716|129|-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29436405G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs174716|1400|1||HGNC|HGNC:45142|||||||||Ensembl||G|G||||chr22:g.29436405G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs174716|4161|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29436405G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs174716|4362|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29436405G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs174716|4362|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29436405G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs174716|1230|1||||||||||||Ensembl||G|G||||chr22:g.29436405G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs174716|1230|1||||||||||||Ensembl||G|G||||chr22:g.29436405G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs174716|1217|1||||||||||||Ensembl||G|G||||chr22:g.29436405G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-13217C>T|||||||rs174716||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29436405G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs174716|4785|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29436405G>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||8/9|NM_001393612.1:c.-6+1798G>A|||||||rs174716||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29436405G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs174716|2178|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||G|G||||chr22:g.29436405G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs174716|610|-1||EntrezGene|HGNC:9978|||||||||RefSeq||G|G|OK|||chr22:g.29436405G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752428,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,RFPL1S,RFPL1S,RFPL1S,.,.,.,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=123245;gnomADv4_1_AC_joint_XX=62980;gnomADv4_1_AC_joint_XY=60265;gnomADv4_1_AF_grpmax_joint=0.876801;gnomADv4_1_AF_joint=0.814574;gnomADv4_1_AF_joint_XX=0.814032;gnomADv4_1_AF_joint_XY=0.815141;gnomADv4_1_AN_grpmax_joint=41088;gnomADv4_1_AN_joint=151300;gnomADv4_1_AN_joint_XX=77368;gnomADv4_1_AN_joint_XY=73932;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=50441;gnomADv4_1_nhomalt_joint_XX=25753;gnomADv4_1_nhomalt_joint_XY=24688;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29436599 chr22_29436599_C_CAA C CAA 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADDIndel_PHREDscore=0.906;CADDIndel_Rawscore=-0.043231;CSQ=AA|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs200602345|1822|-1||HGNC|HGNC:9978|1||||||||Ensembl|||||||chr22:g.29436614_29436615dup|||||||||||||,AA|upstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs200602345|1983|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl|||||||chr22:g.29436614_29436615dup|||||||||||||,AA|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA|3/3||ENST00000461286.4:n.5836_5837dup||5837-5838|||||rs200602345||-1||HGNC|HGNC:9978|4||||||||Ensembl|||||||chr22:g.29436614_29436615dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs200602345|1594|1||HGNC|HGNC:45142|||||||||Ensembl|||||||chr22:g.29436614_29436615dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs200602345|3966|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29436614_29436615dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs200602345|4167|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29436614_29436615dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs200602345|4167|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29436614_29436615dup|||||||||||||,AA|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs200602345|1424|1||||||||||||Ensembl|||||||chr22:g.29436614_29436615dup|||||||||||||,AA|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs200602345|1424|1||||||||||||Ensembl|||||||chr22:g.29436614_29436615dup|||||||||||||,AA|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs200602345|1411|1||||||||||||Ensembl|||||||chr22:g.29436614_29436615dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-13413_126-13412dup|||||||rs200602345||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29436614_29436615dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs200602345|4590|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29436614_29436615dup|||||||||||||,AA|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||8/9|NM_001393612.1:c.-6+2007_-6+2008dup|||||||rs200602345||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||16|chr22:g.29436614_29436615dup|||||||||||||,AA|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs200602345|1983|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq|||||||chr22:g.29436614_29436615dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs200602345|415|-1||EntrezGene|HGNC:9978|||||||||RefSeq||||OK|||chr22:g.29436614_29436615dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752428,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,RFPL1S,RFPL1S,RFPL1S,.,.,.,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16242;gnomADv4_1_AC_joint_XX=8344;gnomADv4_1_AC_joint_XY=7898;gnomADv4_1_AF_grpmax_joint=0.236673;gnomADv4_1_AF_joint=0.176107;gnomADv4_1_AF_joint_XX=0.17304;gnomADv4_1_AF_joint_XY=0.179467;gnomADv4_1_AN_grpmax_joint=44234;gnomADv4_1_AN_joint=92228;gnomADv4_1_AN_joint_XX=48220;gnomADv4_1_AN_joint_XY=44008;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1218;gnomADv4_1_nhomalt_joint_XX=633;gnomADv4_1_nhomalt_joint_XY=585;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29436765 chr22_29436765_C_A C A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=2.102;CADD_Rawscore=0.177138;CSQ=A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs28250|1657|-1||HGNC|HGNC:9978|1||||||||Ensembl||C|C||||chr22:g.29436765C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs28250|1818|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||C|C||||chr22:g.29436765C>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA|3/3||ENST00000461286.4:n.5672G>T||5672|||||rs28250||-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29436765C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs28250|1760|1||HGNC|HGNC:45142|||||||||Ensembl||C|C||||chr22:g.29436765C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs28250|3801|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29436765C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs28250|4002|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29436765C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs28250|4002|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29436765C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs28250|1590|1||||||||||||Ensembl||C|C||||chr22:g.29436765C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs28250|1590|1||||||||||||Ensembl||C|C||||chr22:g.29436765C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs28250|1577|1||||||||||||Ensembl||C|C||||chr22:g.29436765C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-13577G>T|||||||rs28250||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29436765C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs28250|4425|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29436765C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs28250|4947|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29436765C>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||8/9|NM_001393612.1:c.-5-2109C>A|||||||rs28250||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29436765C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs28250|1818|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||C|C||||chr22:g.29436765C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs28250|250|-1||EntrezGene|HGNC:9978|||||||||RefSeq||C|C|OK|||chr22:g.29436765C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,RFPL1S,RFPL1S,RFPL1S,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48145;gnomADv4_1_AC_joint_XX=24734;gnomADv4_1_AC_joint_XY=23411;gnomADv4_1_AF_grpmax_joint=0.357288;gnomADv4_1_AF_joint=0.316785;gnomADv4_1_AF_joint_XX=0.318376;gnomADv4_1_AF_joint_XY=0.315121;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=151980;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8178;gnomADv4_1_nhomalt_joint_XX=4215;gnomADv4_1_nhomalt_joint_XY=3963;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29436786 chr22_29436786_T_A T A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.901;CADD_Rawscore=-0.044585;CSQ=A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs28251|1636|-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29436786T>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs28251|1797|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||T|T||||chr22:g.29436786T>A|||1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA|3/3||ENST00000461286.4:n.5651A>T||5651|||||rs28251||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29436786T>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs28251|1781|1||HGNC|HGNC:45142|||||||||Ensembl||T|T||||chr22:g.29436786T>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs28251|3780|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29436786T>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs28251|3981|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29436786T>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs28251|3981|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29436786T>A|||1||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs28251|1611|1||||||||||||Ensembl||T|T||||chr22:g.29436786T>A|||1||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs28251|1611|1||||||||||||Ensembl||T|T||||chr22:g.29436786T>A|||1||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs28251|1598|1||||||||||||Ensembl||T|T||||chr22:g.29436786T>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-13598A>T|||||||rs28251||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29436786T>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs28251|4404|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29436786T>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs28251|4926|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29436786T>A|||1||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||8/9|NM_001393612.1:c.-5-2088T>A|||||||rs28251||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29436786T>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs28251|1797|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||T|T||||chr22:g.29436786T>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs28251|229|-1||EntrezGene|HGNC:9978|||||||||RefSeq||T|T|OK|||chr22:g.29436786T>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,RFPL1S,RFPL1S,RFPL1S,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48127;gnomADv4_1_AC_joint_XX=24738;gnomADv4_1_AC_joint_XY=23389;gnomADv4_1_AF_grpmax_joint=0.357113;gnomADv4_1_AF_joint=0.316637;gnomADv4_1_AF_joint_XX=0.318354;gnomADv4_1_AF_joint_XY=0.314842;gnomADv4_1_AN_grpmax_joint=67970;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8166;gnomADv4_1_nhomalt_joint_XX=4211;gnomADv4_1_nhomalt_joint_XY=3955;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29436981 chr22_29436981_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=2.312;CADD_Rawscore=0.202581;CSQ=A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs67115|1441|-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29436981G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs67115|1602|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||G|G||||chr22:g.29436981G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA|3/3||ENST00000461286.4:n.5456C>T||5456|||||rs67115||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29436981G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs67115|1976|1||HGNC|HGNC:45142|||||||||Ensembl||G|G||||chr22:g.29436981G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs67115|3585|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29436981G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs67115|3786|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29436981G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs67115|3786|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29436981G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs67115|1806|1||||||||||||Ensembl||G|G||||chr22:g.29436981G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs67115|1806|1||||||||||||Ensembl||G|G||||chr22:g.29436981G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs67115|1793|1||||||||||||Ensembl||G|G||||chr22:g.29436981G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-13793C>T|||||||rs67115||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29436981G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs67115|4209|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29436981G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs67115|4731|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29436981G>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||8/9|NM_001393612.1:c.-5-1893G>A|||||||rs67115||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29436981G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs67115|1602|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||G|G||||chr22:g.29436981G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs67115|34|-1||EntrezGene|HGNC:9978|||||||||RefSeq||G|G|OK|||chr22:g.29436981G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,RFPL1S,RFPL1S,RFPL1S,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48246;gnomADv4_1_AC_joint_XX=24786;gnomADv4_1_AC_joint_XY=23460;gnomADv4_1_AF_grpmax_joint=0.35747;gnomADv4_1_AF_joint=0.317237;gnomADv4_1_AF_joint_XX=0.318857;gnomADv4_1_AF_joint_XY=0.315543;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8204;gnomADv4_1_nhomalt_joint_XX=4225;gnomADv4_1_nhomalt_joint_XY=3979;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29437650 chr22_29437650_C_G C G 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.225;CADD_Rawscore=0.035106;CSQ=G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs174718|772|-1||HGNC|HGNC:9978|1||||||||Ensembl||C|C||||chr22:g.29437650C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs174718|933|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||C|C||||chr22:g.29437650C>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA|3/3||ENST00000461286.4:n.4787G>C||4787|||||rs174718||-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29437650C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs174718|2645|1||HGNC|HGNC:45142|||||||||Ensembl||C|C||||chr22:g.29437650C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs174718|2916|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29437650C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs174718|3117|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29437650C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs174718|3117|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29437650C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs174718|2475|1||||||||||||Ensembl||C|C||||chr22:g.29437650C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs174718|2475|1||||||||||||Ensembl||C|C||||chr22:g.29437650C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs174718|2462|1||||||||||||Ensembl||C|C||||chr22:g.29437650C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-14462G>C|||||||rs174718||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29437650C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs174718|3540|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29437650C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs174718|4062|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29437650C>G|||||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||8/9|NM_001393612.1:c.-5-1224C>G|||||||rs174718||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29437650C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs174718|933|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||C|C||||chr22:g.29437650C>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA|1/1||NR_002727.2:n.4480G>C||4480|||||rs174718||-1||EntrezGene|HGNC:9978|||||||||RefSeq||C|C|OK|||chr22:g.29437650C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,RFPL1S,RFPL1S,RFPL1S,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1332350;gnomADv4_1_AC_joint_XX=671434;gnomADv4_1_AC_joint_XY=660916;gnomADv4_1_AF_grpmax_joint=0.967115;gnomADv4_1_AF_joint=0.836932;gnomADv4_1_AF_joint_XX=0.837688;gnomADv4_1_AF_joint_XY=0.836164;gnomADv4_1_AN_grpmax_joint=44062;gnomADv4_1_AN_joint=1591946;gnomADv4_1_AN_joint_XX=801532;gnomADv4_1_AN_joint_XY=790414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=558625;gnomADv4_1_nhomalt_joint_XX=281762;gnomADv4_1_nhomalt_joint_XY=276863;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29437953 chr22_29437953_A_ATT;chr22_29437953_A_AT A ATT 28 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=27;CADDIndel_PHREDscore=1.944;CADDIndel_Rawscore=0.156386;CSQ=TT|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs3044138|468|-1||HGNC|HGNC:9978|1||||||||Ensembl|||||||chr22:g.29437971_29437972dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs3044138|629|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl|||||||chr22:g.29437971_29437972dup|||||||||||||,TT|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA|3/3||ENST00000461286.4:n.4482_4483dup||4483-4484|||||rs3044138||-1||HGNC|HGNC:9978|4||||||||Ensembl|||||||chr22:g.29437971_29437972dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs3044138|2948|1||HGNC|HGNC:45142|||||||||Ensembl|||||||chr22:g.29437971_29437972dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs3044138|2612|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29437971_29437972dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs3044138|2813|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29437971_29437972dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs3044138|2813|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29437971_29437972dup|||||||||||||,TT|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs3044138|2778|1||||||||||||Ensembl|||||||chr22:g.29437971_29437972dup|||||||||||||,TT|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs3044138|2778|1||||||||||||Ensembl|||||||chr22:g.29437971_29437972dup|||||||||||||,TT|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs3044138|2765|1||||||||||||Ensembl|||||||chr22:g.29437971_29437972dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-14767_126-14766dup|||||||rs3044138||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29437971_29437972dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs3044138|3236|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29437971_29437972dup|||||||||||||,TT|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs3044138|3758|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29437971_29437972dup|||||||||||||,TT|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||8/9|NM_001393612.1:c.-5-903_-5-902dup|||||||rs3044138||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||19|chr22:g.29437971_29437972dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs3044138|629|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq|||||||chr22:g.29437971_29437972dup|||||||||||||,TT|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA|1/1||NR_002727.2:n.4175_4176dup||4176-4177|||||rs3044138||-1||EntrezGene|HGNC:9978|||||||||RefSeq||||OK|||chr22:g.29437971_29437972dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,RFPL1S,RFPL1S,RFPL1S,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45801;gnomADv4_1_AC_joint_XX=22306;gnomADv4_1_AC_joint_XY=23495;gnomADv4_1_AF_grpmax_joint=0.509563;gnomADv4_1_AF_joint=0.175848;gnomADv4_1_AF_joint_XX=0.174386;gnomADv4_1_AF_joint_XY=0.177259;gnomADv4_1_AN_grpmax_joint=6274;gnomADv4_1_AN_joint=260458;gnomADv4_1_AN_joint_XX=127912;gnomADv4_1_AN_joint_XY=132546;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3593;gnomADv4_1_nhomalt_joint_XX=1839;gnomADv4_1_nhomalt_joint_XY=1754;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29437953 chr22_29437953_A_ATT;chr22_29437953_A_AT A AT 28 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=28;CADDIndel_PHREDscore=1.969;CADDIndel_Rawscore=0.159781;CSQ=T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs3044138|468|-1||HGNC|HGNC:9978|1||||||||Ensembl|||||||chr22:g.29437972dup|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs3044138|629|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl|||||||chr22:g.29437972dup|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA|3/3||ENST00000461286.4:n.4483dup||4483-4484|||||rs3044138||-1||HGNC|HGNC:9978|4||||||||Ensembl|||||||chr22:g.29437972dup|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs3044138|2948|1||HGNC|HGNC:45142|||||||||Ensembl|||||||chr22:g.29437972dup|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs3044138|2612|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29437972dup|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs3044138|2813|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29437972dup|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs3044138|2813|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29437972dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs3044138|2778|1||||||||||||Ensembl|||||||chr22:g.29437972dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs3044138|2778|1||||||||||||Ensembl|||||||chr22:g.29437972dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs3044138|2765|1||||||||||||Ensembl|||||||chr22:g.29437972dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-14766dup|||||||rs3044138||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29437972dup|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs3044138|3236|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29437972dup|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs3044138|3758|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29437972dup|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||8/9|NM_001393612.1:c.-5-902dup|||||||rs3044138||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||19|chr22:g.29437972dup|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs3044138|629|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq|||||||chr22:g.29437972dup|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA|1/1||NR_002727.2:n.4176dup||4176-4177|||||rs3044138||-1||EntrezGene|HGNC:9978|||||||||RefSeq||||OK|||chr22:g.29437972dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,RFPL1S,RFPL1S,RFPL1S,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=94101;gnomADv4_1_AC_joint_XX=47200;gnomADv4_1_AC_joint_XY=46901;gnomADv4_1_AF_grpmax_joint=0.514163;gnomADv4_1_AF_joint=0.35815;gnomADv4_1_AF_joint_XX=0.366198;gnomADv4_1_AF_joint_XY=0.3504;gnomADv4_1_AN_grpmax_joint=34598;gnomADv4_1_AN_joint=262742;gnomADv4_1_AN_joint_XX=128892;gnomADv4_1_AN_joint_XY=133850;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=14044;gnomADv4_1_nhomalt_joint_XX=7438;gnomADv4_1_nhomalt_joint_XY=6606;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29438096 chr22_29438096_AC_A AC A 44 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=0.632;CADDIndel_Rawscore=-0.134467;CSQ=-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs58248313|325|-1||HGNC|HGNC:9978|1||||||||Ensembl||C|C||||chr22:g.29438097del|||||||||||||,-|upstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs58248313|486|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||C|C||||chr22:g.29438097del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA|3/3||ENST00000461286.4:n.4340del||4340|||||rs58248313||-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29438097del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs58248313|3092|1||HGNC|HGNC:45142|||||||||Ensembl||C|C||||chr22:g.29438097del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs58248313|2469|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29438097del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs58248313|2670|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29438097del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs58248313|2670|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29438097del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs58248313|2922|1||||||||||||Ensembl||C|C||||chr22:g.29438097del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs58248313|2922|1||||||||||||Ensembl||C|C||||chr22:g.29438097del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs58248313|2909|1||||||||||||Ensembl||C|C||||chr22:g.29438097del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-14909del|||||||rs58248313||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29438097del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs58248313|3093|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29438097del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs58248313|3615|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29438097del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||8/9|NM_001393612.1:c.-5-777del|||||||rs58248313||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29438097del|||||||||||||,-|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs58248313|486|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||C|C||||chr22:g.29438097del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA|1/1||NR_002727.2:n.4033del||4033|||||rs58248313||-1||EntrezGene|HGNC:9978|||||||||RefSeq||C|C|OK|||chr22:g.29438097del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,RFPL1S,RFPL1S,RFPL1S,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=123223;gnomADv4_1_AC_joint_XX=62287;gnomADv4_1_AC_joint_XY=60936;gnomADv4_1_AF_grpmax_joint=0.932866;gnomADv4_1_AF_joint=0.672931;gnomADv4_1_AF_joint_XX=0.669753;gnomADv4_1_AF_joint_XY=0.67621;gnomADv4_1_AN_grpmax_joint=5422;gnomADv4_1_AN_joint=183114;gnomADv4_1_AN_joint_XX=93000;gnomADv4_1_AN_joint_XY=90114;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=42244;gnomADv4_1_nhomalt_joint_XX=21249;gnomADv4_1_nhomalt_joint_XY=20995;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29438179 chr22_29438179_C_CT;chr22_29438179_CT_C C CT 22 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=22;CADDIndel_PHREDscore=0.603;CADDIndel_Rawscore=-0.146519;CSQ=T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs60607519|242|-1||HGNC|HGNC:9978|1||||||||Ensembl|||||||chr22:g.29438200dup|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs60607519|403|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl|||||||chr22:g.29438200dup|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA|3/3||ENST00000461286.4:n.4257dup||4257-4258|||||rs60607519||-1||HGNC|HGNC:9978|4||||||||Ensembl|||||||chr22:g.29438200dup|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs60607519|3174|1||HGNC|HGNC:45142|||||||||Ensembl|||||||chr22:g.29438200dup|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs60607519|2386|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29438200dup|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs60607519|2587|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29438200dup|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs60607519|2587|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29438200dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs60607519|3004|1||||||||||||Ensembl|||||||chr22:g.29438200dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs60607519|3004|1||||||||||||Ensembl|||||||chr22:g.29438200dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs60607519|2991|1||||||||||||Ensembl|||||||chr22:g.29438200dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-14992dup|||||||rs60607519||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29438200dup|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs60607519|3010|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29438200dup|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs60607519|3532|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29438200dup|||||||||||||,T|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||8/9|NM_001393612.1:c.-5-674dup|||||||rs60607519||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||||||21|chr22:g.29438200dup|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs60607519|403|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq|||||||chr22:g.29438200dup|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA|1/1||NR_002727.2:n.3950dup||3950-3951|||||rs60607519||-1||EntrezGene|HGNC:9978|||||||||RefSeq||||OK|||chr22:g.29438200dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,RFPL1S,RFPL1S,RFPL1S,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18777;gnomADv4_1_AC_joint_XX=10006;gnomADv4_1_AC_joint_XY=8771;gnomADv4_1_AF_grpmax_joint=0.362739;gnomADv4_1_AF_joint=0.197928;gnomADv4_1_AF_joint_XX=0.194965;gnomADv4_1_AF_joint_XY=0.201419;gnomADv4_1_AN_grpmax_joint=3242;gnomADv4_1_AN_joint=94868;gnomADv4_1_AN_joint_XX=51322;gnomADv4_1_AN_joint_XY=43546;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2714;gnomADv4_1_nhomalt_joint_XX=1417;gnomADv4_1_nhomalt_joint_XY=1297;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29438179 chr22_29438179_C_CT;chr22_29438179_CT_C CT C 22 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=22;CADDIndel_PHREDscore=0.488;CADDIndel_Rawscore=-0.199374;CSQ=-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs60607519|242|-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29438200del|||||||||||||,-|upstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs60607519|403|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||T|T||||chr22:g.29438200del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA|3/3||ENST00000461286.4:n.4257del||4257|||||rs60607519||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29438200del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs60607519|3175|1||HGNC|HGNC:45142|||||||||Ensembl||T|T||||chr22:g.29438200del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs60607519|2386|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29438200del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs60607519|2587|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29438200del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs60607519|2587|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29438200del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs60607519|3005|1||||||||||||Ensembl||T|T||||chr22:g.29438200del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs60607519|3005|1||||||||||||Ensembl||T|T||||chr22:g.29438200del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs60607519|2992|1||||||||||||Ensembl||T|T||||chr22:g.29438200del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-14992del|||||||rs60607519||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29438200del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs60607519|3010|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29438200del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs60607519|3532|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29438200del|||||||||||||,-|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||8/9|NM_001393612.1:c.-5-674del|||||||rs60607519||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T|||20|chr22:g.29438200del|||||||||||||,-|upstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs60607519|403|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||T|T||||chr22:g.29438200del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA|1/1||NR_002727.2:n.3950del||3950|||||rs60607519||-1||EntrezGene|HGNC:9978|||||||||RefSeq||T|T|OK|||chr22:g.29438200del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,RFPL1S,RFPL1S,RFPL1S,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20938;gnomADv4_1_AC_joint_XX=11707;gnomADv4_1_AC_joint_XY=9231;gnomADv4_1_AF_grpmax_joint=0.240067;gnomADv4_1_AF_joint=0.221702;gnomADv4_1_AF_joint_XX=0.22927;gnomADv4_1_AF_joint_XY=0.212794;gnomADv4_1_AN_grpmax_joint=22198;gnomADv4_1_AN_joint=94442;gnomADv4_1_AN_joint_XX=51062;gnomADv4_1_AN_joint_XY=43380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1205;gnomADv4_1_nhomalt_joint_XX=655;gnomADv4_1_nhomalt_joint_XY=550;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29438777 chr22_29438777_A_G A G 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.953;CADD_Rawscore=0.269954;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA|3/3||ENST00000248980.9:n.688T>C||688|||||rs465736||-1||HGNC|HGNC:9978|1||||||||Ensembl||A|A||||chr22:g.29438777A>G|||1||||||||||,G|5_prime_UTR_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding|1/2||ENST00000354373.2:c.-15A>G||195|||||rs465736||1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||A|A||||chr22:g.29438777A>G|||1||||||0|2|3||,G|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA|3/3||ENST00000461286.4:n.3660T>C||3660|||||rs465736||-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29438777A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|RFPL4AP6|ENSG00000278292|Transcript|ENST00000616792|transcribed_unprocessed_pseudogene||||||||||rs465736|3772|1||HGNC|HGNC:45142|||||||||Ensembl||A|A||||chr22:g.29438777A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs465736|1789|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29438777A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs465736|1990|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29438777A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs465736|1990|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29438777A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752284|lncRNA||||||||||rs465736|3602|1||||||||||||Ensembl||A|A||||chr22:g.29438777A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752285|lncRNA||||||||||rs465736|3602|1||||||||||||Ensembl||A|A||||chr22:g.29438777A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000290778|Transcript|ENST00000752286|lncRNA||||||||||rs465736|3589|1||||||||||||Ensembl||A|A||||chr22:g.29438777A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-15589T>C|||||||rs465736||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29438777A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs465736|2413|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29438777A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs465736|2935|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29438777A>G|||1||||||||||,G|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||8/9|NM_001393612.1:c.-5-97A>G|||||||rs465736||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29438777A>G|||1||||||||||,G|5_prime_UTR_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding|1/2||NM_021026.2:c.-15A>G||195|||||rs465736||1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||A|A||||chr22:g.29438777A>G|||1||||||0|2|3||,G|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA|1/1||NR_002727.2:n.3353T>C||3353|||||rs465736||-1||EntrezGene|HGNC:9978|||||||||RefSeq||A|A|OK|||chr22:g.29438777A>G|||1||||||||||;SpliceAI=G|RFPL1|0.00|0.00|0.00|0.00|-18|23|22|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000616792,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752284,ENST00000752285,ENST00000752286,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000278292,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000290778,ENSG00000290778,ENSG00000290778,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL4AP6,RFPL1S,RFPL1S,RFPL1S,.,.,.,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,0,.,.,.,.,.,.,.,.,.,.,.,.,0,.;VEP_existing_OutOfFrame_oORFs=.,2,.,.,.,.,.,.,.,.,.,.,.,.,2,.;VEP_existing_uORFs=.,3,.,.,.,.,.,.,.,.,.,.,.,.,3,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=257632;gnomADv4_1_AC_joint_XX=128897;gnomADv4_1_AC_joint_XY=128735;gnomADv4_1_AF_grpmax_joint=0.175355;gnomADv4_1_AF_joint=0.160166;gnomADv4_1_AF_joint_XX=0.159054;gnomADv4_1_AF_joint_XY=0.161295;gnomADv4_1_AN_grpmax_joint=90240;gnomADv4_1_AN_joint=1608534;gnomADv4_1_AN_joint_XX=810398;gnomADv4_1_AN_joint_XY=798136;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=22098;gnomADv4_1_nhomalt_joint_XX=10996;gnomADv4_1_nhomalt_joint_XY=11102;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29440698 chr22_29440698_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.255;CADD_Rawscore=-0.363356;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-1505C>T|||||||rs5763238||-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29440698G>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||1/1|ENST00000354373.2:c.374-844G>A|||||||rs5763238||1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||G|G||||chr22:g.29440698G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA|3/3||ENST00000461286.4:n.1739C>T||1739|||||rs5763238||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29440698G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA|2/2||ENST00000657516.2:n.2025C>T||2025|||||rs5763238||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29440698G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs5763238|69|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29440698G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs5763238|69|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29440698G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-17510C>T|||||||rs5763238||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29440698G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs5763238|492|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29440698G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs5763238|1014|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29440698G>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||9/9|NM_001393612.1:c.287-844G>A|||||||rs5763238||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29440698G>A|||||||||||||,A|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||1/1|NM_021026.2:c.374-844G>A|||||||rs5763238||1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||G|G||||chr22:g.29440698G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA|1/1||NR_002727.2:n.1432C>T||1432|||||rs5763238||-1||EntrezGene|HGNC:9978|||||||||RefSeq||G|G|OK|||chr22:g.29440698G>A|||||||||||||;SpliceAI=A|RFPL1|0.00|0.00|0.00|0.00|3|31|1|48;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21716;gnomADv4_1_AC_joint_XX=10752;gnomADv4_1_AC_joint_XY=10964;gnomADv4_1_AF_grpmax_joint=0.169394;gnomADv4_1_AF_joint=0.143091;gnomADv4_1_AF_joint_XX=0.138575;gnomADv4_1_AF_joint_XY=0.147815;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=151764;gnomADv4_1_AN_joint_XX=77590;gnomADv4_1_AN_joint_XY=74174;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1825;gnomADv4_1_nhomalt_joint_XX=877;gnomADv4_1_nhomalt_joint_XY=948;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29440937 chr22_29440937_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.651;CADD_Rawscore=0.113245;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-1744A>G|||||||rs5763240||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29440937T>C|||1||||||||||,C|intron_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||1/1|ENST00000354373.2:c.374-605T>C|||||||rs5763240||1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||T|T||||chr22:g.29440937T>C|||1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA|3/3||ENST00000461286.4:n.1500A>G||1500|||||rs5763240||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29440937T>C|||1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA|2/2||ENST00000657516.2:n.1786A>G||1786|||||rs5763240||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29440937T>C|||1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA|4/4||ENST00000658349.2:n.1469A>G||1469|||||rs5763240||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29440937T>C|||1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA|3/3||ENST00000661328.1:n.1466A>G||1466|||||rs5763240||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29440937T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-17749A>G|||||||rs5763240||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29440937T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs5763240|253|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29440937T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs5763240|775|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29440937T>C|||1||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||9/9|NM_001393612.1:c.287-605T>C|||||||rs5763240||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29440937T>C|||1||||||||||,C|intron_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||1/1|NM_021026.2:c.374-605T>C|||||||rs5763240||1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||T|T||||chr22:g.29440937T>C|||1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA|1/1||NR_002727.2:n.1193A>G||1193|||||rs5763240||-1||EntrezGene|HGNC:9978|||||||||RefSeq||T|T|OK|||chr22:g.29440937T>C|||1||||||||||;SpliceAI=C|RFPL1|0.00|0.00|0.00|0.00|-30|16|-3|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49536;gnomADv4_1_AC_joint_XX=25452;gnomADv4_1_AC_joint_XY=24084;gnomADv4_1_AF_grpmax_joint=0.357405;gnomADv4_1_AF_joint=0.325125;gnomADv4_1_AF_joint_XX=0.326844;gnomADv4_1_AF_joint_XY=0.323327;gnomADv4_1_AN_grpmax_joint=68242;gnomADv4_1_AN_joint=152360;gnomADv4_1_AN_joint_XX=77872;gnomADv4_1_AN_joint_XY=74488;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8604;gnomADv4_1_nhomalt_joint_XX=4446;gnomADv4_1_nhomalt_joint_XY=4158;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29441548 chr22_29441548_T_C T C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;AlphaMissense_class=likely_benign;AlphaMissense_pathogenicity=0.2824;AlphaMissense_protein_variant=M127T;AlphaMissense_transcript_id=ENST00000354373.2;AlphaMissense_uniprot_id=O75677;CADD_PHREDscore=16.86;CADD_Rawscore=2.0237;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-2355A>G|||||||rs3804076||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29441548T>C|||||||||||||,C|missense_variant|MODERATE|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding|2/2||ENST00000354373.2:c.380T>C|ENSP00000346342.2:p.Met127Thr|589|380|127|M/T|aTg/aCg|rs3804076||1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||T|T||||chr22:g.29441548T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA|3/3||ENST00000461286.4:n.889A>G||889|||||rs3804076||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29441548T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA|2/2||ENST00000657516.2:n.1175A>G||1175|||||rs3804076||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29441548T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA|4/4||ENST00000658349.2:n.858A>G||858|||||rs3804076||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29441548T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA|3/3||ENST00000661328.1:n.855A>G||855|||||rs3804076||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29441548T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-18360A>G|||||||rs3804076||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29441548T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA|3/3||ENST00000752428.1:n.745A>G||745|||||rs3804076||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29441548T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs3804076|164|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29441548T>C|||||||||||||,C|missense_variant|MODERATE|RFPL1|5988|Transcript|NM_001393612.1|protein_coding|10/10||NM_001393612.1:c.293T>C|NP_001380541.1:p.Met98Thr|1691|293|98|M/T|aTg/aCg|rs3804076||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29441548T>C|||||||||||||,C|missense_variant|MODERATE|RFPL1|5988|Transcript|NM_021026.2|protein_coding|2/2||NM_021026.2:c.380T>C|NP_066306.2:p.Met127Thr|589|380|127|M/T|aTg/aCg|rs3804076||1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||T|T||||chr22:g.29441548T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA|1/1||NR_002727.2:n.582A>G||582|||||rs3804076||-1||EntrezGene|HGNC:9978|||||||||RefSeq||T|T|OK|||chr22:g.29441548T>C|||||||||||||;REVEL_score=0.084;SpliceAI=C|RFPL1|0.00|0.00|0.00|0.00|-6|21|-4|21;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=623734;gnomADv4_1_AC_joint_XX=313624;gnomADv4_1_AC_joint_XY=310110;gnomADv4_1_AF_grpmax_joint=0.432231;gnomADv4_1_AF_joint=0.387146;gnomADv4_1_AF_joint_XX=0.386671;gnomADv4_1_AF_joint_XY=0.387628;gnomADv4_1_AN_grpmax_joint=6050;gnomADv4_1_AN_joint=1611108;gnomADv4_1_AN_joint_XX=811088;gnomADv4_1_AN_joint_XY=800020;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=128812;gnomADv4_1_nhomalt_joint_XX=64784;gnomADv4_1_nhomalt_joint_XY=64028;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29441577 chr22_29441577_TTCC_T TTCC T 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=1.543;CADDIndel_Rawscore=0.095555;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-2387_272-2385del|||||||rs3842466||-1||HGNC|HGNC:9978|1||||||||Ensembl||TCC|TCC||||chr22:g.29441583_29441585del|||||||||||||,-|inframe_deletion|MODERATE|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding|2/2||ENST00000354373.2:c.415_417del|ENSP00000346342.2:p.Leu139del|619-621|410-412|137-138|FL/F|tTCCtc/ttc|rs3842466||1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||TCC|CTC|||5|chr22:g.29441583_29441585del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA|3/3||ENST00000461286.4:n.857_859del||857-859|||||rs3842466||-1||HGNC|HGNC:9978|4||||||||Ensembl||TCC|TCC||||chr22:g.29441583_29441585del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA|2/2||ENST00000657516.2:n.1143_1145del||1143-1145|||||rs3842466||-1||HGNC|HGNC:9978|||||||||Ensembl||TCC|TCC||||chr22:g.29441583_29441585del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA|4/4||ENST00000658349.2:n.826_828del||826-828|||||rs3842466||-1||HGNC|HGNC:9978|||||||||Ensembl||TCC|TCC||||chr22:g.29441583_29441585del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA|3/3||ENST00000661328.1:n.823_825del||823-825|||||rs3842466||-1||HGNC|HGNC:9978|||||||||Ensembl||TCC|TCC||||chr22:g.29441583_29441585del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-18392_126-18390del|||||||rs3842466||-1||HGNC|HGNC:9978|||||||||Ensembl||TCC|TCC||||chr22:g.29441583_29441585del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA|3/3||ENST00000752428.1:n.713_715del||713-715|||||rs3842466||-1||HGNC|HGNC:9978|||||||||Ensembl||TCC|TCC||||chr22:g.29441583_29441585del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs3842466|132|-1||HGNC|HGNC:9978|||||||||Ensembl||TCC|TCC||||chr22:g.29441583_29441585del|||||||||||||,-|inframe_deletion|MODERATE|RFPL1|5988|Transcript|NM_001393612.1|protein_coding|10/10||NM_001393612.1:c.328_330del|NP_001380541.1:p.Leu110del|1721-1723|323-325|108-109|FL/F|tTCCtc/ttc|rs3842466||1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||TCC|CTC|||5|chr22:g.29441583_29441585del|||||||||||||,-|inframe_deletion|MODERATE|RFPL1|5988|Transcript|NM_021026.2|protein_coding|2/2||NM_021026.2:c.415_417del|NP_066306.2:p.Leu139del|619-621|410-412|137-138|FL/F|tTCCtc/ttc|rs3842466||1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||TCC|CTC|||5|chr22:g.29441583_29441585del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA|1/1||NR_002727.2:n.550_552del||550-552|||||rs3842466||-1||EntrezGene|HGNC:9978|||||||||RefSeq||TCC|TCC|OK|||chr22:g.29441583_29441585del|||||||||||||;SpliceAI=T|RFPL1|0.00|0.00|0.00|0.00|-35|26|-15|36;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=640743;gnomADv4_1_AC_joint_XX=322446;gnomADv4_1_AC_joint_XY=318297;gnomADv4_1_AF_grpmax_joint=0.471919;gnomADv4_1_AF_joint=0.397341;gnomADv4_1_AF_joint_XX=0.397258;gnomADv4_1_AF_joint_XY=0.397425;gnomADv4_1_AN_grpmax_joint=6054;gnomADv4_1_AN_joint=1612578;gnomADv4_1_AN_joint_XX=811680;gnomADv4_1_AN_joint_XY=800898;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=133711;gnomADv4_1_nhomalt_joint_XX=67278;gnomADv4_1_nhomalt_joint_XY=66433;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29442959 chr22_29442959_CA_C CA C 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=1.139;CADDIndel_Rawscore=0.016045;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-3767del|||||||rs10711888||-1||HGNC|HGNC:9978|1||||||||Ensembl||A|A||||chr22:g.29442974del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs10711888|505|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||A|A||||chr22:g.29442974del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-831del|||||||rs10711888||-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29442974del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-831del|||||||rs10711888||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29442974del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-831del|||||||rs10711888||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29442974del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-831del|||||||rs10711888||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29442974del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-19772del|||||||rs10711888||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29442974del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-831del|||||||rs10711888||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29442974del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-831del|||||||rs10711888||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29442974del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||||||||||rs10711888|505|1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29442974del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs10711888|505|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||A|A||||chr22:g.29442974del|||||||||||||,-|upstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs10711888|831|-1||EntrezGene|HGNC:9978|||||||||RefSeq||A|A|OK|||chr22:g.29442974del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73209;gnomADv4_1_AC_joint_XX=38272;gnomADv4_1_AC_joint_XY=34937;gnomADv4_1_AF_grpmax_joint=0.737069;gnomADv4_1_AF_joint=0.632191;gnomADv4_1_AF_joint_XX=0.63402;gnomADv4_1_AF_joint_XY=0.6302;gnomADv4_1_AN_grpmax_joint=232;gnomADv4_1_AN_joint=115802;gnomADv4_1_AN_joint_XX=60364;gnomADv4_1_AN_joint_XY=55438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=19608;gnomADv4_1_nhomalt_joint_XX=10335;gnomADv4_1_nhomalt_joint_XY=9273;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29443179 chr22_29443179_T_C T C 28 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=28;CADD_PHREDscore=3.464;CADD_Rawscore=0.317453;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-3986A>G|||||||rs5763241||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29443179T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs5763241|724|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||T|T||||chr22:g.29443179T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-1050A>G|||||||rs5763241||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29443179T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-1050A>G|||||||rs5763241||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29443179T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-1050A>G|||||||rs5763241||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29443179T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-1050A>G|||||||rs5763241||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29443179T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-19991A>G|||||||rs5763241||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29443179T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-1050A>G|||||||rs5763241||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29443179T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-1050A>G|||||||rs5763241||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29443179T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||||||||||rs5763241|724|1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29443179T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs5763241|724|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||T|T||||chr22:g.29443179T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs5763241|1050|-1||EntrezGene|HGNC:9978|||||||||RefSeq||T|T|OK|||chr22:g.29443179T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16235;gnomADv4_1_AC_joint_XX=8378;gnomADv4_1_AC_joint_XY=7857;gnomADv4_1_AF_grpmax_joint=0.13662;gnomADv4_1_AF_joint=0.106687;gnomADv4_1_AF_joint_XX=0.107695;gnomADv4_1_AF_joint_XY=0.105633;gnomADv4_1_AN_grpmax_joint=15276;gnomADv4_1_AN_joint=152174;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=934;gnomADv4_1_nhomalt_joint_XX=462;gnomADv4_1_nhomalt_joint_XY=472;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29443688 chr22_29443688_G_A G A 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=4.765;CADD_Rawscore=0.434095;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-4495C>T|||||||rs9608769||-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29443688G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs9608769|1233|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||G|G||||chr22:g.29443688G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-1559C>T|||||||rs9608769||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29443688G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-1559C>T|||||||rs9608769||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29443688G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-1559C>T|||||||rs9608769||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29443688G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-1559C>T|||||||rs9608769||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29443688G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-20500C>T|||||||rs9608769||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29443688G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-1559C>T|||||||rs9608769||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29443688G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-1559C>T|||||||rs9608769||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29443688G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||||||||||rs9608769|1233|1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29443688G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs9608769|1233|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||G|G||||chr22:g.29443688G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs9608769|1559|-1||EntrezGene|HGNC:9978|||||||||RefSeq||G|G|OK|||chr22:g.29443688G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46763;gnomADv4_1_AC_joint_XX=24134;gnomADv4_1_AC_joint_XY=22629;gnomADv4_1_AF_grpmax_joint=0.465986;gnomADv4_1_AF_joint=0.307433;gnomADv4_1_AF_joint_XX=0.310325;gnomADv4_1_AF_joint_XY=0.304407;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152108;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9103;gnomADv4_1_nhomalt_joint_XX=4727;gnomADv4_1_nhomalt_joint_XY=4376;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29444313 chr22_29444313_C_T C T 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=4.338;CADD_Rawscore=0.395338;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-5120G>A|||||||rs105268||-1||HGNC|HGNC:9978|1||||||||Ensembl||C|C||||chr22:g.29444313C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs105268|1858|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||C|C||||chr22:g.29444313C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-2184G>A|||||||rs105268||-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29444313C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-2184G>A|||||||rs105268||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29444313C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-2184G>A|||||||rs105268||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29444313C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-2184G>A|||||||rs105268||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29444313C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-21125G>A|||||||rs105268||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29444313C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-2184G>A|||||||rs105268||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29444313C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-2184G>A|||||||rs105268||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29444313C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||||||||||rs105268|1858|1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29444313C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs105268|1858|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||C|C||||chr22:g.29444313C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs105268|2184|-1||EntrezGene|HGNC:9978|||||||||RefSeq||C|C|OK|||chr22:g.29444313C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19363;gnomADv4_1_AC_joint_XX=9530;gnomADv4_1_AC_joint_XY=9833;gnomADv4_1_AF_grpmax_joint=0.170948;gnomADv4_1_AF_joint=0.127385;gnomADv4_1_AF_joint_XX=0.122629;gnomADv4_1_AF_joint_XY=0.13236;gnomADv4_1_AN_grpmax_joint=67974;gnomADv4_1_AN_joint=152004;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1702;gnomADv4_1_nhomalt_joint_XX=823;gnomADv4_1_nhomalt_joint_XY=879;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29444351 chr22_29444351_C_T C T 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.222;CADD_Rawscore=-0.399254;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-5158G>A|||||||rs5763243||-1||HGNC|HGNC:9978|1||||||||Ensembl||C|C||||chr22:g.29444351C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs5763243|1896|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||C|C||||chr22:g.29444351C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-2222G>A|||||||rs5763243||-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29444351C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-2222G>A|||||||rs5763243||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29444351C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-2222G>A|||||||rs5763243||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29444351C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-2222G>A|||||||rs5763243||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29444351C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-21163G>A|||||||rs5763243||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29444351C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-2222G>A|||||||rs5763243||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29444351C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-2222G>A|||||||rs5763243||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29444351C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||||||||||rs5763243|1896|1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||C|C||||chr22:g.29444351C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs5763243|1896|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||C|C||||chr22:g.29444351C>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs5763243|2222|-1||EntrezGene|HGNC:9978|||||||||RefSeq||C|C|OK|||chr22:g.29444351C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30705;gnomADv4_1_AC_joint_XX=15335;gnomADv4_1_AC_joint_XY=15370;gnomADv4_1_AF_grpmax_joint=0.436988;gnomADv4_1_AF_joint=0.202156;gnomADv4_1_AF_joint_XX=0.197453;gnomADv4_1_AF_joint_XY=0.207076;gnomADv4_1_AN_grpmax_joint=5126;gnomADv4_1_AN_joint=151888;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3792;gnomADv4_1_nhomalt_joint_XX=1872;gnomADv4_1_nhomalt_joint_XY=1920;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29444665 chr22_29444665_GA_G GA G 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.107;CADDIndel_Rawscore=-0.592636;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-5473del|||||||rs71196671||-1||HGNC|HGNC:9978|1||||||||Ensembl||A|A||||chr22:g.29444681del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs71196671|2211|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||A|A||||chr22:g.29444681del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-2537del|||||||rs71196671||-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29444681del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-2537del|||||||rs71196671||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29444681del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-2537del|||||||rs71196671||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29444681del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-2537del|||||||rs71196671||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29444681del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-21478del|||||||rs71196671||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29444681del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-2537del|||||||rs71196671||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29444681del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-2537del|||||||rs71196671||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29444681del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||||||||||rs71196671|2211|1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||A|A||||chr22:g.29444681del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs71196671|2211|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||A|A||||chr22:g.29444681del|||||||||||||,-|upstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs71196671|2537|-1||EntrezGene|HGNC:9978|||||||||RefSeq||A|A|OK|||chr22:g.29444681del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3229;gnomADv4_1_AC_joint_XX=1726;gnomADv4_1_AC_joint_XY=1503;gnomADv4_1_AF_grpmax_joint=0.0613208;gnomADv4_1_AF_joint=0.0283758;gnomADv4_1_AF_joint_XX=0.0287695;gnomADv4_1_AF_joint_XY=0.0279368;gnomADv4_1_AN_grpmax_joint=212;gnomADv4_1_AN_joint=113794;gnomADv4_1_AN_joint_XX=59994;gnomADv4_1_AN_joint_XY=53800;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=38;gnomADv4_1_nhomalt_joint_XX=19;gnomADv4_1_nhomalt_joint_XY=19;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29444821 chr22_29444821_C_CA C CA 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=1.525;CADDIndel_Rawscore=0.09241;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-5629dup|||||||rs143081903||-1||HGNC|HGNC:9978|1||||||||Ensembl|||||||chr22:g.29444834dup|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs143081903|2366|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl|||||||chr22:g.29444834dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-2693dup|||||||rs143081903||-1||HGNC|HGNC:9978|4||||||||Ensembl|||||||chr22:g.29444834dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-2693dup|||||||rs143081903||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29444834dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-2693dup|||||||rs143081903||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29444834dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-2693dup|||||||rs143081903||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29444834dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-21634dup|||||||rs143081903||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29444834dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-2693dup|||||||rs143081903||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29444834dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-2693dup|||||||rs143081903||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29444834dup|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||||||||||rs143081903|2366|1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq|||||||chr22:g.29444834dup|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs143081903|2366|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq|||||||chr22:g.29444834dup|||||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs143081903|2692|-1||EntrezGene|HGNC:9978|||||||||RefSeq||||OK|||chr22:g.29444834dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38697;gnomADv4_1_AC_joint_XX=20330;gnomADv4_1_AC_joint_XY=18367;gnomADv4_1_AF_grpmax_joint=0.307576;gnomADv4_1_AF_joint=0.266994;gnomADv4_1_AF_joint_XX=0.272432;gnomADv4_1_AF_joint_XY=0.261221;gnomADv4_1_AN_grpmax_joint=65896;gnomADv4_1_AN_joint=144936;gnomADv4_1_AN_joint_XX=74624;gnomADv4_1_AN_joint_XY=70312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5123;gnomADv4_1_nhomalt_joint_XX=2702;gnomADv4_1_nhomalt_joint_XY=2421;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29445653 chr22_29445653_G_A G A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.026;CADD_Rawscore=-0.011075;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-6460C>T|||||||rs174719||-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29445653G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs174719|3198|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||G|G||||chr22:g.29445653G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-3524C>T|||||||rs174719||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29445653G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-3524C>T|||||||rs174719||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29445653G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-3524C>T|||||||rs174719||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29445653G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-3524C>T|||||||rs174719||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29445653G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-22465C>T|||||||rs174719||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29445653G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-3524C>T|||||||rs174719||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29445653G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-3524C>T|||||||rs174719||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29445653G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||||||||||rs174719|3198|1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||G|G||||chr22:g.29445653G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs174719|3198|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||G|G||||chr22:g.29445653G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs174719|3524|-1||EntrezGene|HGNC:9978|||||||||RefSeq||G|G|OK|||chr22:g.29445653G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=139786;gnomADv4_1_AC_joint_XX=71503;gnomADv4_1_AC_joint_XY=68283;gnomADv4_1_AF_grpmax_joint=0.962217;gnomADv4_1_AF_joint=0.917954;gnomADv4_1_AF_joint_XX=0.918637;gnomADv4_1_AF_joint_XY=0.91724;gnomADv4_1_AN_grpmax_joint=41580;gnomADv4_1_AN_joint=152280;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=64423;gnomADv4_1_nhomalt_joint_XX=32969;gnomADv4_1_nhomalt_joint_XY=31454;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29446469 chr22_29446469_T_C T C 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.845;CADD_Rawscore=-0.061169;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-7276A>G|||||||rs174720||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29446469T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs174720|4014|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||T|T||||chr22:g.29446469T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-4340A>G|||||||rs174720||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29446469T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-4340A>G|||||||rs174720||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29446469T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-4340A>G|||||||rs174720||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29446469T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-4340A>G|||||||rs174720||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29446469T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-23281A>G|||||||rs174720||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29446469T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-4340A>G|||||||rs174720||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29446469T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-4340A>G|||||||rs174720||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29446469T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||||||||||rs174720|4014|1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29446469T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs174720|4014|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||T|T||||chr22:g.29446469T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs174720|4340|-1||EntrezGene|HGNC:9978|||||||||RefSeq||T|T|OK|||chr22:g.29446469T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151474;gnomADv4_1_AC_joint_XX=77402;gnomADv4_1_AC_joint_XY=74072;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.994159;gnomADv4_1_AF_joint_XX=0.994092;gnomADv4_1_AF_joint_XY=0.994228;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152364;gnomADv4_1_AN_joint_XX=77862;gnomADv4_1_AN_joint_XY=74502;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75299;gnomADv4_1_nhomalt_joint_XX=38473;gnomADv4_1_nhomalt_joint_XY=36826;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29446900 chr22_29446900_A_AT A AT 30 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=30;CADDIndel_PHREDscore=2.379;CADDIndel_Rawscore=0.210239;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-7708dup|||||||rs71324767||-1||HGNC|HGNC:9978|1||||||||Ensembl|||||||chr22:g.29446917dup|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs71324767|4445|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl|||||||chr22:g.29446917dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-4772dup|||||||rs71324767||-1||HGNC|HGNC:9978|4||||||||Ensembl|||||||chr22:g.29446917dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-4772dup|||||||rs71324767||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29446917dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-4772dup|||||||rs71324767||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29446917dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-4772dup|||||||rs71324767||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29446917dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-23713dup|||||||rs71324767||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29446917dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-4772dup|||||||rs71324767||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29446917dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-4772dup|||||||rs71324767||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29446917dup|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||||||||||rs71324767|4445|1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq|||||||chr22:g.29446917dup|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs71324767|4445|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq|||||||chr22:g.29446917dup|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|10740|Transcript|NR_002727.2|lncRNA||||||||||rs71324767|4771|-1||EntrezGene|HGNC:9978|||||||||RefSeq||||OK|||chr22:g.29446917dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2,NR_002727.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988,10740;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33834;gnomADv4_1_AC_joint_XX=18206;gnomADv4_1_AC_joint_XY=15628;gnomADv4_1_AF_grpmax_joint=0.374793;gnomADv4_1_AF_joint=0.292616;gnomADv4_1_AF_joint_XX=0.298361;gnomADv4_1_AF_joint_XY=0.286196;gnomADv4_1_AN_grpmax_joint=56866;gnomADv4_1_AN_joint=115626;gnomADv4_1_AN_joint_XX=61020;gnomADv4_1_AN_joint_XY=54606;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5494;gnomADv4_1_nhomalt_joint_XX=2975;gnomADv4_1_nhomalt_joint_XY=2519;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29447265 chr22_29447265_T_C T C 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.279;CADD_Rawscore=0.046259;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-8072A>G|||||||rs174721||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29447265T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1|ENSG00000128250|Transcript|ENST00000354373|protein_coding||||||||||rs174721|4810|1||HGNC|HGNC:9977|1|CCDS13857.2|ENSP00000346342|O75677.168||UPI000013CC65|||Ensembl||T|T||||chr22:g.29447265T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-5136A>G|||||||rs174721||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29447265T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-5136A>G|||||||rs174721||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29447265T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-5136A>G|||||||rs174721||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29447265T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-5136A>G|||||||rs174721||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29447265T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-24077A>G|||||||rs174721||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29447265T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-5136A>G|||||||rs174721||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29447265T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-5136A>G|||||||rs174721||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29447265T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_001393612.1|protein_coding||||||||||rs174721|4810|1||EntrezGene|HGNC:9977|||NP_001380541.1||||||RefSeq||T|T||||chr22:g.29447265T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1|5988|Transcript|NM_021026.2|protein_coding||||||||||rs174721|4810|1||EntrezGene|HGNC:9977|||NP_066306.2||||||RefSeq||T|T||||chr22:g.29447265T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000354373,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,NM_001393612.1,NM_021026.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000128250,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,5988,5988;VEP_SYMBOL=RFPL1S,RFPL1,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1,RFPL1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=132382;gnomADv4_1_AC_joint_XX=68078;gnomADv4_1_AC_joint_XY=64304;gnomADv4_1_AF_grpmax_joint=0.959444;gnomADv4_1_AF_joint=0.87082;gnomADv4_1_AF_joint_XX=0.875556;gnomADv4_1_AF_joint_XY=0.865861;gnomADv4_1_AN_grpmax_joint=41498;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=58081;gnomADv4_1_nhomalt_joint_XX=30028;gnomADv4_1_nhomalt_joint_XY=28053;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29448325 chr22_29448325_G_T G T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.329;CADD_Rawscore=-0.298873;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-9132C>A|||||||rs4823038||-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29448325G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-6196C>A|||||||rs4823038||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29448325G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-6196C>A|||||||rs4823038||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29448325G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-6196C>A|||||||rs4823038||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29448325G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-6196C>A|||||||rs4823038||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29448325G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-25137C>A|||||||rs4823038||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29448325G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-6196C>A|||||||rs4823038||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29448325G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-6196C>A|||||||rs4823038||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29448325G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=131273;gnomADv4_1_AC_joint_XX=67433;gnomADv4_1_AC_joint_XY=63840;gnomADv4_1_AF_grpmax_joint=0.954545;gnomADv4_1_AF_joint=0.86415;gnomADv4_1_AF_joint_XX=0.868288;gnomADv4_1_AF_joint_XY=0.859821;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=151910;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56919;gnomADv4_1_nhomalt_joint_XX=29369;gnomADv4_1_nhomalt_joint_XY=27550;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29449349 chr22_29449349_CA_C CA C 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADDIndel_PHREDscore=0.667;CADDIndel_Rawscore=-0.120876;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-10157del|||||||rs60039570||-1||HGNC|HGNC:9978|1||||||||Ensembl||A|A||||chr22:g.29449366del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-7221del|||||||rs60039570||-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29449366del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-7221del|||||||rs60039570||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29449366del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-7221del|||||||rs60039570||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29449366del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-7221del|||||||rs60039570||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29449366del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-26162del|||||||rs60039570||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29449366del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-7221del|||||||rs60039570||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29449366del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-7221del|||||||rs60039570||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29449366del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs60039570|4434|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29449366del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46011;gnomADv4_1_AC_joint_XX=24186;gnomADv4_1_AC_joint_XY=21825;gnomADv4_1_AF_grpmax_joint=0.564394;gnomADv4_1_AF_joint=0.356768;gnomADv4_1_AF_joint_XX=0.358375;gnomADv4_1_AF_joint_XY=0.355005;gnomADv4_1_AN_grpmax_joint=264;gnomADv4_1_AN_joint=128966;gnomADv4_1_AN_joint_XX=67488;gnomADv4_1_AN_joint_XY=61478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8811;gnomADv4_1_nhomalt_joint_XX=4681;gnomADv4_1_nhomalt_joint_XY=4130;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29450225 chr22_29450225_A_AG A AG 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.92;CADDIndel_Rawscore=-0.039274;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-11033_272-11032insC|||||||rs61450963||-1||HGNC|HGNC:9978|1||||||||Ensembl|||||||chr22:g.29450225_29450226insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-8097_308-8096insC|||||||rs61450963||-1||HGNC|HGNC:9978|4||||||||Ensembl|||||||chr22:g.29450225_29450226insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-8097_594-8096insC|||||||rs61450963||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29450225_29450226insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-8097_277-8096insC|||||||rs61450963||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29450225_29450226insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-8097_274-8096insC|||||||rs61450963||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29450225_29450226insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-27038_126-27037insC|||||||rs61450963||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29450225_29450226insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-8097_164-8096insC|||||||rs61450963||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29450225_29450226insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-8097_111-8096insC|||||||rs61450963||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29450225_29450226insG|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs61450963|3558|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29450225_29450226insG|||||||||||||;TYPE=INDEL;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45584;gnomADv4_1_AC_joint_XX=23355;gnomADv4_1_AC_joint_XY=22229;gnomADv4_1_AF_grpmax_joint=0.356472;gnomADv4_1_AF_joint=0.300865;gnomADv4_1_AF_joint_XX=0.30151;gnomADv4_1_AF_joint_XY=0.300189;gnomADv4_1_AN_grpmax_joint=67952;gnomADv4_1_AN_joint=151510;gnomADv4_1_AN_joint_XX=77460;gnomADv4_1_AN_joint_XY=74050;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7403;gnomADv4_1_nhomalt_joint_XX=3799;gnomADv4_1_nhomalt_joint_XY=3604;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29450493 chr22_29450493_T_C T C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=3.23;CADD_Rawscore=0.296132;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-11300A>G|||||||rs5763247||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29450493T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-8364A>G|||||||rs5763247||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29450493T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-8364A>G|||||||rs5763247||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29450493T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-8364A>G|||||||rs5763247||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29450493T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-8364A>G|||||||rs5763247||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29450493T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.126-27305A>G|||||||rs5763247||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29450493T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-8364A>G|||||||rs5763247||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29450493T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-8364A>G|||||||rs5763247||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29450493T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs5763247|3291|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29450493T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19394;gnomADv4_1_AC_joint_XX=9544;gnomADv4_1_AC_joint_XY=9850;gnomADv4_1_AF_grpmax_joint=0.171179;gnomADv4_1_AF_joint=0.127532;gnomADv4_1_AF_joint_XX=0.122765;gnomADv4_1_AF_joint_XY=0.132517;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1709;gnomADv4_1_nhomalt_joint_XX=825;gnomADv4_1_nhomalt_joint_XY=884;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29450998 chr22_29450998_C_CA C CA 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=1.757;CADDIndel_Rawscore=0.129722;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-11806dup|||||||rs201838094||-1||HGNC|HGNC:9978|1||||||||Ensembl|||||||chr22:g.29451007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-8870dup|||||||rs201838094||-1||HGNC|HGNC:9978|4||||||||Ensembl|||||||chr22:g.29451007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-8870dup|||||||rs201838094||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29451007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-8870dup|||||||rs201838094||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29451007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-8870dup|||||||rs201838094||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29451007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+27011dup|||||||rs201838094||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29451007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-8870dup|||||||rs201838094||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29451007dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-8870dup|||||||rs201838094||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29451007dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs201838094|2785|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29451007dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19383;gnomADv4_1_AC_joint_XX=9543;gnomADv4_1_AC_joint_XY=9840;gnomADv4_1_AF_grpmax_joint=0.171255;gnomADv4_1_AF_joint=0.12839;gnomADv4_1_AF_joint_XX=0.123534;gnomADv4_1_AF_joint_XY=0.133478;gnomADv4_1_AN_grpmax_joint=67712;gnomADv4_1_AN_joint=150970;gnomADv4_1_AN_joint_XX=77250;gnomADv4_1_AN_joint_XY=73720;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1687;gnomADv4_1_nhomalt_joint_XX=813;gnomADv4_1_nhomalt_joint_XY=874;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29451061 chr22_29451061_C_CACAG C CACAG 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.543;CADDIndel_Rawscore=-0.172744;CSQ=ACAG|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-11869_272-11868insCTGT|||||||rs10627800||-1||HGNC|HGNC:9978|1||||||||Ensembl|||||||chr22:g.29451064_29451065insGACA|||||||||||||,ACAG|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-8933_308-8932insCTGT|||||||rs10627800||-1||HGNC|HGNC:9978|4||||||||Ensembl|||||||chr22:g.29451064_29451065insGACA|||||||||||||,ACAG|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-8933_594-8932insCTGT|||||||rs10627800||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29451064_29451065insGACA|||||||||||||,ACAG|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-8933_277-8932insCTGT|||||||rs10627800||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29451064_29451065insGACA|||||||||||||,ACAG|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-8933_274-8932insCTGT|||||||rs10627800||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29451064_29451065insGACA|||||||||||||,ACAG|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+26948_125+26949insCTGT|||||||rs10627800||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29451064_29451065insGACA|||||||||||||,ACAG|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-8933_164-8932insCTGT|||||||rs10627800||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29451064_29451065insGACA|||||||||||||,ACAG|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-8933_111-8932insCTGT|||||||rs10627800||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29451064_29451065insGACA|||||||||||||,ACAG|downstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs10627800|2722|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29451064_29451065insGACA|||||||||||||;TYPE=INDEL;VEP_Allele=ACAG,ACAG,ACAG,ACAG,ACAG,ACAG,ACAG,ACAG,ACAG;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48743;gnomADv4_1_AC_joint_XX=25065;gnomADv4_1_AC_joint_XY=23678;gnomADv4_1_AF_grpmax_joint=0.35656;gnomADv4_1_AF_joint=0.321244;gnomADv4_1_AF_joint_XX=0.323069;gnomADv4_1_AF_joint_XY=0.319334;gnomADv4_1_AN_grpmax_joint=67896;gnomADv4_1_AN_joint=151732;gnomADv4_1_AN_joint_XX=77584;gnomADv4_1_AN_joint_XY=74148;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8316;gnomADv4_1_nhomalt_joint_XX=4294;gnomADv4_1_nhomalt_joint_XY=4022;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29451080 chr22_29451080_G_A G A 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=3.144;CADD_Rawscore=0.288109;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-11887C>T|||||||rs174722||-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29451080G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-8951C>T|||||||rs174722||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29451080G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-8951C>T|||||||rs174722||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29451080G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-8951C>T|||||||rs174722||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29451080G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-8951C>T|||||||rs174722||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29451080G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+26930C>T|||||||rs174722||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29451080G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-8951C>T|||||||rs174722||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29451080G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-8951C>T|||||||rs174722||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29451080G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs174722|2704|-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29451080G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19453;gnomADv4_1_AC_joint_XX=9575;gnomADv4_1_AC_joint_XY=9878;gnomADv4_1_AF_grpmax_joint=0.170967;gnomADv4_1_AF_joint=0.127974;gnomADv4_1_AF_joint_XX=0.123192;gnomADv4_1_AF_joint_XY=0.132976;gnomADv4_1_AN_grpmax_joint=67978;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1697;gnomADv4_1_nhomalt_joint_XX=822;gnomADv4_1_nhomalt_joint_XY=875;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29451337 chr22_29451337_A_G A G 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=6.011;CADD_Rawscore=0.554301;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-12144T>C|||||||rs174723||-1||HGNC|HGNC:9978|1||||||||Ensembl||A|A||||chr22:g.29451337A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-9208T>C|||||||rs174723||-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29451337A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-9208T>C|||||||rs174723||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29451337A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-9208T>C|||||||rs174723||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29451337A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-9208T>C|||||||rs174723||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29451337A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+26673T>C|||||||rs174723||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29451337A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-9208T>C|||||||rs174723||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29451337A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-9208T>C|||||||rs174723||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29451337A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs174723|2447|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29451337A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52594;gnomADv4_1_AC_joint_XX=27104;gnomADv4_1_AC_joint_XY=25490;gnomADv4_1_AF_grpmax_joint=0.582192;gnomADv4_1_AF_joint=0.346538;gnomADv4_1_AF_joint_XX=0.349359;gnomADv4_1_AF_joint_XY=0.343587;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151770;gnomADv4_1_AN_joint_XX=77582;gnomADv4_1_AN_joint_XY=74188;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=10423;gnomADv4_1_nhomalt_joint_XX=5424;gnomADv4_1_nhomalt_joint_XY=4999;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29451573 chr22_29451573_T_A T A 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.078;CADD_Rawscore=-0.680011;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-12380A>T|||||||rs55925114||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29451573T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-9444A>T|||||||rs55925114||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29451573T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-9444A>T|||||||rs55925114||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29451573T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-9444A>T|||||||rs55925114||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29451573T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-9444A>T|||||||rs55925114||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29451573T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+26437A>T|||||||rs55925114||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29451573T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-9444A>T|||||||rs55925114||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29451573T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-9444A>T|||||||rs55925114||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29451573T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs55925114|2211|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29451573T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36444;gnomADv4_1_AC_joint_XX=18885;gnomADv4_1_AC_joint_XY=17559;gnomADv4_1_AF_grpmax_joint=0.32557;gnomADv4_1_AF_joint=0.269488;gnomADv4_1_AF_joint_XX=0.270947;gnomADv4_1_AF_joint_XY=0.267937;gnomADv4_1_AN_grpmax_joint=61274;gnomADv4_1_AN_joint=135234;gnomADv4_1_AN_joint_XX=69700;gnomADv4_1_AN_joint_XY=65534;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4914;gnomADv4_1_nhomalt_joint_XX=2576;gnomADv4_1_nhomalt_joint_XY=2338;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29452038 chr22_29452038_CTTCT_C CTTCT C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.5;CADDIndel_Rawscore=-0.193269;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-12849_272-12846del|||||||rs140189845||-1||HGNC|HGNC:9978|1||||||||Ensembl||TTCT|TTCT||||chr22:g.29452043_29452046del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-9913_308-9910del|||||||rs140189845||-1||HGNC|HGNC:9978|4||||||||Ensembl||TTCT|TTCT||||chr22:g.29452043_29452046del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-9913_594-9910del|||||||rs140189845||-1||HGNC|HGNC:9978|||||||||Ensembl||TTCT|TTCT||||chr22:g.29452043_29452046del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-9913_277-9910del|||||||rs140189845||-1||HGNC|HGNC:9978|||||||||Ensembl||TTCT|TTCT||||chr22:g.29452043_29452046del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-9913_274-9910del|||||||rs140189845||-1||HGNC|HGNC:9978|||||||||Ensembl||TTCT|TTCT||||chr22:g.29452043_29452046del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+25968_125+25971del|||||||rs140189845||-1||HGNC|HGNC:9978|||||||||Ensembl||TTCT|TTCT||||chr22:g.29452043_29452046del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-9913_164-9910del|||||||rs140189845||-1||HGNC|HGNC:9978|||||||||Ensembl||TTCT|TTCT||||chr22:g.29452043_29452046del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-9913_111-9910del|||||||rs140189845||-1||HGNC|HGNC:9978|||||||||Ensembl||TTCT|TTCT||||chr22:g.29452043_29452046del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs140189845|1742|-1||EntrezGene||||||||||RefSeq||TTCT|TTCT||||chr22:g.29452043_29452046del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19475;gnomADv4_1_AC_joint_XX=9610;gnomADv4_1_AC_joint_XY=9865;gnomADv4_1_AF_grpmax_joint=0.171849;gnomADv4_1_AF_joint=0.130633;gnomADv4_1_AF_joint_XX=0.126165;gnomADv4_1_AF_joint_XY=0.1353;gnomADv4_1_AN_grpmax_joint=67792;gnomADv4_1_AN_joint=149082;gnomADv4_1_AN_joint_XX=76170;gnomADv4_1_AN_joint_XY=72912;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1702;gnomADv4_1_nhomalt_joint_XX=833;gnomADv4_1_nhomalt_joint_XY=869;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29452173 chr22_29452173_CT_C CT C 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.011;CADDIndel_Rawscore=-1.23482;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-12981del|||||||rs34145204||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29452185del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-10045del|||||||rs34145204||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29452185del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-10045del|||||||rs34145204||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452185del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-10045del|||||||rs34145204||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452185del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-10045del|||||||rs34145204||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452185del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+25836del|||||||rs34145204||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452185del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-10045del|||||||rs34145204||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452185del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-10045del|||||||rs34145204||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452185del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs34145204|1610|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29452185del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42943;gnomADv4_1_AC_joint_XX=22524;gnomADv4_1_AC_joint_XY=20419;gnomADv4_1_AF_grpmax_joint=0.515038;gnomADv4_1_AF_joint=0.350549;gnomADv4_1_AF_joint_XX=0.354307;gnomADv4_1_AF_joint_XY=0.346496;gnomADv4_1_AN_grpmax_joint=266;gnomADv4_1_AN_joint=122502;gnomADv4_1_AN_joint_XX=63572;gnomADv4_1_AN_joint_XY=58930;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7518;gnomADv4_1_nhomalt_joint_XX=3997;gnomADv4_1_nhomalt_joint_XY=3521;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29452441 chr22_29452441_T_C T C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=46;CADD_PHREDscore=0.099;CADD_Rawscore=-0.614145;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-13248A>G|||||||rs9613915||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29452441T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-10312A>G|||||||rs9613915||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29452441T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-10312A>G|||||||rs9613915||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452441T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-10312A>G|||||||rs9613915||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452441T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-10312A>G|||||||rs9613915||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452441T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+25569A>G|||||||rs9613915||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452441T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-10312A>G|||||||rs9613915||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452441T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-10312A>G|||||||rs9613915||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452441T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs9613915|1343|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29452441T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21595;gnomADv4_1_AC_joint_XX=10732;gnomADv4_1_AC_joint_XY=10863;gnomADv4_1_AF_grpmax_joint=0.173408;gnomADv4_1_AF_joint=0.14496;gnomADv4_1_AF_joint_XX=0.140692;gnomADv4_1_AF_joint_XY=0.149439;gnomADv4_1_AN_grpmax_joint=4648;gnomADv4_1_AN_joint=148972;gnomADv4_1_AN_joint_XX=76280;gnomADv4_1_AN_joint_XY=72692;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1813;gnomADv4_1_nhomalt_joint_XX=894;gnomADv4_1_nhomalt_joint_XY=919;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29452495 chr22_29452495_T_G T G 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.404;CADD_Rawscore=-0.246524;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-13302A>C|||||||rs9613916||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29452495T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-10366A>C|||||||rs9613916||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29452495T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-10366A>C|||||||rs9613916||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452495T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-10366A>C|||||||rs9613916||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452495T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-10366A>C|||||||rs9613916||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452495T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+25515A>C|||||||rs9613916||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452495T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-10366A>C|||||||rs9613916||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452495T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-10366A>C|||||||rs9613916||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29452495T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs9613916|1289|-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29452495T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20610;gnomADv4_1_AC_joint_XX=10199;gnomADv4_1_AC_joint_XY=10411;gnomADv4_1_AF_grpmax_joint=0.172612;gnomADv4_1_AF_joint=0.136324;gnomADv4_1_AF_joint_XX=0.131825;gnomADv4_1_AF_joint_XY=0.14104;gnomADv4_1_AN_grpmax_joint=67788;gnomADv4_1_AN_joint=151184;gnomADv4_1_AN_joint_XX=77368;gnomADv4_1_AN_joint_XY=73816;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1759;gnomADv4_1_nhomalt_joint_XX=857;gnomADv4_1_nhomalt_joint_XY=902;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29453190 chr22_29453190_T_TA T TA 20 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=20;CADDIndel_PHREDscore=0.338;CADDIndel_Rawscore=-0.292041;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-13998dup|||||||rs562104641||-1||HGNC|HGNC:9978|1||||||||Ensembl|||||||chr22:g.29453210dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-11062dup|||||||rs562104641||-1||HGNC|HGNC:9978|4||||||||Ensembl|||||||chr22:g.29453210dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-11062dup|||||||rs562104641||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29453210dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-11062dup|||||||rs562104641||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29453210dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-11062dup|||||||rs562104641||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29453210dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+24819dup|||||||rs562104641||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29453210dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-11062dup|||||||rs562104641||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29453210dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-11062dup|||||||rs562104641||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29453210dup|||||||||||||,A|downstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs562104641|593|-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29453210dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22633;gnomADv4_1_AC_joint_XX=11763;gnomADv4_1_AC_joint_XY=10870;gnomADv4_1_AF_grpmax_joint=0.555786;gnomADv4_1_AF_joint=0.183415;gnomADv4_1_AF_joint_XX=0.181634;gnomADv4_1_AF_joint_XY=0.185381;gnomADv4_1_AN_grpmax_joint=4338;gnomADv4_1_AN_joint=123398;gnomADv4_1_AN_joint_XX=64762;gnomADv4_1_AN_joint_XY=58636;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2887;gnomADv4_1_nhomalt_joint_XX=1484;gnomADv4_1_nhomalt_joint_XY=1403;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29453493 chr22_29453493_AAAT_A AAAT A 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.324;CADDIndel_Rawscore=-0.302376;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-14303_272-14301del|||||||rs146466001||-1||HGNC|HGNC:9978|1||||||||Ensembl||AAT|AAT||||chr22:g.29453502_29453504del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-11367_308-11365del|||||||rs146466001||-1||HGNC|HGNC:9978|4||||||||Ensembl||AAT|AAT||||chr22:g.29453502_29453504del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-11367_594-11365del|||||||rs146466001||-1||HGNC|HGNC:9978|||||||||Ensembl||AAT|AAT||||chr22:g.29453502_29453504del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-11367_277-11365del|||||||rs146466001||-1||HGNC|HGNC:9978|||||||||Ensembl||AAT|AAT||||chr22:g.29453502_29453504del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-11367_274-11365del|||||||rs146466001||-1||HGNC|HGNC:9978|||||||||Ensembl||AAT|AAT||||chr22:g.29453502_29453504del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+24514_125+24516del|||||||rs146466001||-1||HGNC|HGNC:9978|||||||||Ensembl||AAT|AAT||||chr22:g.29453502_29453504del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-11367_164-11365del|||||||rs146466001||-1||HGNC|HGNC:9978|||||||||Ensembl||AAT|AAT||||chr22:g.29453502_29453504del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-11367_111-11365del|||||||rs146466001||-1||HGNC|HGNC:9978|||||||||Ensembl||AAT|AAT||||chr22:g.29453502_29453504del|||||||||||||,-|downstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs146466001|288|-1||EntrezGene||||||||||RefSeq||AAT|AAT||||chr22:g.29453502_29453504del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19111;gnomADv4_1_AC_joint_XX=9440;gnomADv4_1_AC_joint_XY=9671;gnomADv4_1_AF_grpmax_joint=0.169823;gnomADv4_1_AF_joint=0.126995;gnomADv4_1_AF_joint_XX=0.12248;gnomADv4_1_AF_joint_XY=0.131736;gnomADv4_1_AN_grpmax_joint=67588;gnomADv4_1_AN_joint=150486;gnomADv4_1_AN_joint_XX=77074;gnomADv4_1_AN_joint_XY=73412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1628;gnomADv4_1_nhomalt_joint_XX=793;gnomADv4_1_nhomalt_joint_XY=835;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29454598 chr22_29454598_G_A G A 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=14.38;CADD_Rawscore=1.53343;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-15405C>T|||||||rs174724||-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29454598G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-12469C>T|||||||rs174724||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29454598G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-12469C>T|||||||rs174724||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29454598G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-12469C>T|||||||rs174724||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29454598G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-12469C>T|||||||rs174724||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29454598G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+23412C>T|||||||rs174724||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29454598G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-12469C>T|||||||rs174724||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29454598G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-12469C>T|||||||rs174724||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29454598G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA|4/4||XR_001755482.2:n.6528C>T||6528|||||rs174724||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29454598G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47696;gnomADv4_1_AC_joint_XX=24641;gnomADv4_1_AC_joint_XY=23055;gnomADv4_1_AF_grpmax_joint=0.465986;gnomADv4_1_AF_joint=0.313427;gnomADv4_1_AF_joint_XX=0.316731;gnomADv4_1_AF_joint_XY=0.309971;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152176;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9258;gnomADv4_1_nhomalt_joint_XX=4819;gnomADv4_1_nhomalt_joint_XY=4439;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29455013 chr22_29455013_T_C T C 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.94;CADD_Rawscore=0.155837;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-15820A>G|||||||rs11703287||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29455013T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-12884A>G|||||||rs11703287||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29455013T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-12884A>G|||||||rs11703287||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455013T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-12884A>G|||||||rs11703287||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455013T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-12884A>G|||||||rs11703287||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455013T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+22997A>G|||||||rs11703287||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455013T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-12884A>G|||||||rs11703287||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455013T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-12884A>G|||||||rs11703287||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455013T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA|3/4||XR_001755482.2:n.6228A>G||6228|||||rs11703287||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29455013T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2713;gnomADv4_1_AC_joint_XX=1435;gnomADv4_1_AC_joint_XY=1278;gnomADv4_1_AF_grpmax_joint=0.0408163;gnomADv4_1_AF_joint=0.0178128;gnomADv4_1_AF_joint_XX=0.0184409;gnomADv4_1_AF_joint_XY=0.0171567;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152306;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74490;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=37;gnomADv4_1_nhomalt_joint_XX=21;gnomADv4_1_nhomalt_joint_XY=16;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29455194 chr22_29455194_T_C T C 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.504;CADD_Rawscore=-0.191198;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-16001A>G|||||||rs420395||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29455194T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-13065A>G|||||||rs420395||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29455194T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-13065A>G|||||||rs420395||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455194T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-13065A>G|||||||rs420395||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455194T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-13065A>G|||||||rs420395||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455194T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+22816A>G|||||||rs420395||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455194T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-13065A>G|||||||rs420395||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455194T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-13065A>G|||||||rs420395||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455194T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA|3/4||XR_001755482.2:n.6047A>G||6047|||||rs420395||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29455194T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=139712;gnomADv4_1_AC_joint_XX=71479;gnomADv4_1_AC_joint_XY=68233;gnomADv4_1_AF_grpmax_joint=0.956828;gnomADv4_1_AF_joint=0.918035;gnomADv4_1_AF_joint_XX=0.919037;gnomADv4_1_AF_joint_XY=0.916987;gnomADv4_1_AN_grpmax_joint=41532;gnomADv4_1_AN_joint=152186;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=64382;gnomADv4_1_nhomalt_joint_XX=32964;gnomADv4_1_nhomalt_joint_XY=31418;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29455326 chr22_29455326_T_C T C 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.162;CADD_Rawscore=-0.482382;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-16133A>G|||||||rs4823039||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29455326T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-13197A>G|||||||rs4823039||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29455326T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-13197A>G|||||||rs4823039||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455326T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-13197A>G|||||||rs4823039||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455326T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-13197A>G|||||||rs4823039||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455326T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+22684A>G|||||||rs4823039||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455326T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-13197A>G|||||||rs4823039||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455326T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-13197A>G|||||||rs4823039||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455326T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA|3/4||XR_001755482.2:n.5915A>G||5915|||||rs4823039||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29455326T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=122167;gnomADv4_1_AC_joint_XX=62424;gnomADv4_1_AC_joint_XY=59743;gnomADv4_1_AF_grpmax_joint=0.858863;gnomADv4_1_AF_joint=0.802885;gnomADv4_1_AF_joint_XX=0.802489;gnomADv4_1_AF_joint_XY=0.8033;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=49260;gnomADv4_1_nhomalt_joint_XX=25135;gnomADv4_1_nhomalt_joint_XY=24125;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29455689 chr22_29455689_AT_A AT A 43 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.53;CADDIndel_Rawscore=-0.178472;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.272-16497del|||||||rs35740119||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29455704del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.308-13561del|||||||rs35740119||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29455704del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-13561del|||||||rs35740119||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455704del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.277-13561del|||||||rs35740119||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455704del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.274-13561del|||||||rs35740119||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455704del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+22320del|||||||rs35740119||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455704del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-13561del|||||||rs35740119||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455704del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-13561del|||||||rs35740119||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29455704del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA|3/4||XR_001755482.2:n.5551del||5551|||||rs35740119||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29455704del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111561;gnomADv4_1_AC_joint_XX=57877;gnomADv4_1_AC_joint_XY=53684;gnomADv4_1_AF_grpmax_joint=0.941891;gnomADv4_1_AF_joint=0.826011;gnomADv4_1_AF_joint_XX=0.829706;gnomADv4_1_AF_joint_XY=0.822063;gnomADv4_1_AN_grpmax_joint=4612;gnomADv4_1_AN_joint=135060;gnomADv4_1_AN_joint_XX=69756;gnomADv4_1_AN_joint_XY=65304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46067;gnomADv4_1_nhomalt_joint_XX=23999;gnomADv4_1_nhomalt_joint_XY=22068;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29457832 chr22_29457832_A_G A G 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.244;CADD_Rawscore=0.038985;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+14474T>C|||||||rs5752921||-1||HGNC|HGNC:9978|1||||||||Ensembl||A|A||||chr22:g.29457832A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+14474T>C|||||||rs5752921||-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29457832A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-15703T>C|||||||rs5752921||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29457832A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+14474T>C|||||||rs5752921||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29457832A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+14474T>C|||||||rs5752921||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29457832A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+20178T>C|||||||rs5752921||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29457832A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-15703T>C|||||||rs5752921||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29457832A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-15703T>C|||||||rs5752921||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29457832A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4435-1026T>C|||||||rs5752921||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29457832A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16602;gnomADv4_1_AC_joint_XX=8563;gnomADv4_1_AC_joint_XY=8039;gnomADv4_1_AF_grpmax_joint=0.139136;gnomADv4_1_AF_joint=0.109185;gnomADv4_1_AF_joint_XX=0.110161;gnomADv4_1_AF_joint_XY=0.108164;gnomADv4_1_AN_grpmax_joint=15280;gnomADv4_1_AN_joint=152054;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=968;gnomADv4_1_nhomalt_joint_XX=478;gnomADv4_1_nhomalt_joint_XY=490;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29458180 chr22_29458180_T_C T C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.33;CADD_Rawscore=-0.297702;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+14126A>G|||||||rs9613918||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29458180T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+14126A>G|||||||rs9613918||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29458180T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-16051A>G|||||||rs9613918||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458180T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+14126A>G|||||||rs9613918||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458180T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+14126A>G|||||||rs9613918||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458180T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+19830A>G|||||||rs9613918||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458180T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-16051A>G|||||||rs9613918||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458180T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-16051A>G|||||||rs9613918||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458180T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4435-1374A>G|||||||rs9613918||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29458180T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68963;gnomADv4_1_AC_joint_XX=35017;gnomADv4_1_AC_joint_XY=33946;gnomADv4_1_AF_grpmax_joint=0.674539;gnomADv4_1_AF_joint=0.454589;gnomADv4_1_AF_joint_XX=0.451215;gnomADv4_1_AF_joint_XY=0.458123;gnomADv4_1_AN_grpmax_joint=41326;gnomADv4_1_AN_joint=151704;gnomADv4_1_AN_joint_XX=77606;gnomADv4_1_AN_joint_XY=74098;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17373;gnomADv4_1_nhomalt_joint_XX=8829;gnomADv4_1_nhomalt_joint_XY=8544;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29458239 chr22_29458239_CT_C CT C 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=1.316;CADDIndel_Rawscore=0.053726;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+14066del|||||||rs36107974||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29458250del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+14066del|||||||rs36107974||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29458250del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-16111del|||||||rs36107974||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458250del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+14066del|||||||rs36107974||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458250del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+14066del|||||||rs36107974||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458250del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+19770del|||||||rs36107974||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458250del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-16111del|||||||rs36107974||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458250del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-16111del|||||||rs36107974||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458250del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4435-1434del|||||||rs36107974||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29458250del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118704;gnomADv4_1_AC_joint_XX=60813;gnomADv4_1_AC_joint_XY=57891;gnomADv4_1_AF_grpmax_joint=0.854352;gnomADv4_1_AF_joint=0.795102;gnomADv4_1_AF_joint_XX=0.794443;gnomADv4_1_AF_joint_XY=0.795796;gnomADv4_1_AN_grpmax_joint=4710;gnomADv4_1_AN_joint=149294;gnomADv4_1_AN_joint_XX=76548;gnomADv4_1_AN_joint_XY=72746;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=47359;gnomADv4_1_nhomalt_joint_XX=24234;gnomADv4_1_nhomalt_joint_XY=23125;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29458556 chr22_29458556_CAA_C CAA C 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=11;CADDIndel_PHREDscore=0.795;CADDIndel_Rawscore=-0.076829;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+13748_271+13749del|||||||rs869213896||-1||HGNC|HGNC:9978|1||||||||Ensembl||AA|AA||||chr22:g.29458583_29458584del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+13748_307+13749del|||||||rs869213896||-1||HGNC|HGNC:9978|4||||||||Ensembl||AA|AA||||chr22:g.29458583_29458584del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-16429_594-16428del|||||||rs869213896||-1||HGNC|HGNC:9978|||||||||Ensembl||AA|AA||||chr22:g.29458583_29458584del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+13748_276+13749del|||||||rs869213896||-1||HGNC|HGNC:9978|||||||||Ensembl||AA|AA||||chr22:g.29458583_29458584del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+13748_273+13749del|||||||rs869213896||-1||HGNC|HGNC:9978|||||||||Ensembl||AA|AA||||chr22:g.29458583_29458584del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+19452_125+19453del|||||||rs869213896||-1||HGNC|HGNC:9978|||||||||Ensembl||AA|AA||||chr22:g.29458583_29458584del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-16429_164-16428del|||||||rs869213896||-1||HGNC|HGNC:9978|||||||||Ensembl||AA|AA||||chr22:g.29458583_29458584del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-16429_111-16428del|||||||rs869213896||-1||HGNC|HGNC:9978|||||||||Ensembl||AA|AA||||chr22:g.29458583_29458584del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4435-1752_4435-1751del|||||||rs869213896||-1||EntrezGene||||||||||RefSeq||AA|AA||||chr22:g.29458583_29458584del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7761;gnomADv4_1_AC_joint_XX=4428;gnomADv4_1_AC_joint_XY=3333;gnomADv4_1_AF_grpmax_joint=0.290616;gnomADv4_1_AF_joint=0.176202;gnomADv4_1_AF_joint_XX=0.176274;gnomADv4_1_AF_joint_XY=0.176107;gnomADv4_1_AN_grpmax_joint=1428;gnomADv4_1_AN_joint=44046;gnomADv4_1_AN_joint_XX=25120;gnomADv4_1_AN_joint_XY=18926;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32;gnomADv4_1_nhomalt_joint_XX=12;gnomADv4_1_nhomalt_joint_XY=20;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29458970 chr22_29458970_T_C T C 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=2.118;CADD_Rawscore=0.179123;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+13336A>G|||||||rs7289240||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29458970T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+13336A>G|||||||rs7289240||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29458970T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-16841A>G|||||||rs7289240||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458970T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+13336A>G|||||||rs7289240||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458970T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+13336A>G|||||||rs7289240||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458970T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+19040A>G|||||||rs7289240||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458970T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-16841A>G|||||||rs7289240||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458970T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-16841A>G|||||||rs7289240||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29458970T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4435-2164A>G|||||||rs7289240||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29458970T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48556;gnomADv4_1_AC_joint_XX=25067;gnomADv4_1_AC_joint_XY=23489;gnomADv4_1_AF_grpmax_joint=0.517007;gnomADv4_1_AF_joint=0.319237;gnomADv4_1_AF_joint_XX=0.322422;gnomADv4_1_AF_joint_XY=0.315908;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9619;gnomADv4_1_nhomalt_joint_XX=4998;gnomADv4_1_nhomalt_joint_XY=4621;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29459338 chr22_29459338_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.578;CADD_Rawscore=-0.156727;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+12968C>T|||||||rs9306464||-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29459338G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+12968C>T|||||||rs9306464||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29459338G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.594-17209C>T|||||||rs9306464||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29459338G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+12968C>T|||||||rs9306464||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29459338G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+12968C>T|||||||rs9306464||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29459338G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+18672C>T|||||||rs9306464||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29459338G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.164-17209C>T|||||||rs9306464||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29459338G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-17209C>T|||||||rs9306464||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29459338G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4435-2532C>T|||||||rs9306464||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29459338G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=131392;gnomADv4_1_AC_joint_XX=67535;gnomADv4_1_AC_joint_XY=63857;gnomADv4_1_AF_grpmax_joint=0.955495;gnomADv4_1_AF_joint=0.864671;gnomADv4_1_AF_joint_XX=0.869154;gnomADv4_1_AF_joint_XY=0.859981;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=151956;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=57164;gnomADv4_1_nhomalt_joint_XX=29531;gnomADv4_1_nhomalt_joint_XY=27633;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29460090 chr22_29460090_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.867;CADD_Rawscore=0.145683;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+12216C>T|||||||rs9613919||-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29460090G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+12216C>T|||||||rs9613919||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29460090G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+17920C>T|||||||rs9613919||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29460090G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+12216C>T|||||||rs9613919||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29460090G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+12216C>T|||||||rs9613919||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29460090G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+17920C>T|||||||rs9613919||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29460090G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+17920C>T|||||||rs9613919||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29460090G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.111-17961C>T|||||||rs9613919||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29460090G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4435-3284C>T|||||||rs9613919||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29460090G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10806;gnomADv4_1_AC_joint_XX=5099;gnomADv4_1_AC_joint_XY=5707;gnomADv4_1_AF_grpmax_joint=0.14857;gnomADv4_1_AF_joint=0.0709502;gnomADv4_1_AF_joint_XX=0.0655095;gnomADv4_1_AF_joint_XY=0.0766369;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152304;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=609;gnomADv4_1_nhomalt_joint_XX=264;gnomADv4_1_nhomalt_joint_XY=345;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29460927 chr22_29460927_T_TA T TA 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=18;CADDIndel_PHREDscore=0.691;CADDIndel_Rawscore=-0.112092;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+11378dup|||||||rs35633008||-1||HGNC|HGNC:9978|1||||||||Ensembl|||||||chr22:g.29460948dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+11378dup|||||||rs35633008||-1||HGNC|HGNC:9978|4||||||||Ensembl|||||||chr22:g.29460948dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+17082dup|||||||rs35633008||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29460948dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+11378dup|||||||rs35633008||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29460948dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+11378dup|||||||rs35633008||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29460948dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+17082dup|||||||rs35633008||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29460948dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+17082dup|||||||rs35633008||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29460948dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+17886dup|||||||rs35633008||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29460948dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4435-4122dup|||||||rs35633008||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29460948dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14612;gnomADv4_1_AC_joint_XX=8149;gnomADv4_1_AC_joint_XY=6463;gnomADv4_1_AF_grpmax_joint=0.222715;gnomADv4_1_AF_joint=0.186454;gnomADv4_1_AF_joint_XX=0.190237;gnomADv4_1_AF_joint_XY=0.181892;gnomADv4_1_AN_grpmax_joint=42844;gnomADv4_1_AN_joint=78368;gnomADv4_1_AN_joint_XX=42836;gnomADv4_1_AN_joint_XY=35532;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1410;gnomADv4_1_nhomalt_joint_XX=784;gnomADv4_1_nhomalt_joint_XY=626;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29463325 chr22_29463325_C_CA C CA 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.75;AF_XX=.;AF_XY=0.75;AN=4;AN_XX=0;AN_XY=4;AQ=41;CADDIndel_PHREDscore=1.139;CADDIndel_Rawscore=0.016107;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+8980dup|||||||rs11447532||-1||HGNC|HGNC:9978|1||||||||Ensembl|||||||chr22:g.29463345dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+8980dup|||||||rs11447532||-1||HGNC|HGNC:9978|4||||||||Ensembl|||||||chr22:g.29463345dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+14684dup|||||||rs11447532||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29463345dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+8980dup|||||||rs11447532||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29463345dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+8980dup|||||||rs11447532||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29463345dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+14684dup|||||||rs11447532||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29463345dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+14684dup|||||||rs11447532||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29463345dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+15488dup|||||||rs11447532||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29463345dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4434+4807dup|||||||rs11447532||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29463345dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56335;gnomADv4_1_AC_joint_XX=31146;gnomADv4_1_AC_joint_XY=25189;gnomADv4_1_AF_grpmax_joint=0.761364;gnomADv4_1_AF_joint=0.642697;gnomADv4_1_AF_joint_XX=0.650338;gnomADv4_1_AF_joint_XY=0.633494;gnomADv4_1_AN_grpmax_joint=176;gnomADv4_1_AN_joint=87654;gnomADv4_1_AN_joint_XX=47892;gnomADv4_1_AN_joint_XY=39762;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=17958;gnomADv4_1_nhomalt_joint_XX=10010;gnomADv4_1_nhomalt_joint_XY=7948;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29463517 chr22_29463517_C_T C T 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=8.352;CADD_Rawscore=0.807042;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+8789G>A|||||||rs79310937||-1||HGNC|HGNC:9978|1||||||||Ensembl||C|C||||chr22:g.29463517C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+8789G>A|||||||rs79310937||-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29463517C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+14493G>A|||||||rs79310937||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29463517C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+8789G>A|||||||rs79310937||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29463517C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+8789G>A|||||||rs79310937||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29463517C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+14493G>A|||||||rs79310937||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29463517C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+14493G>A|||||||rs79310937||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29463517C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+15297G>A|||||||rs79310937||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29463517C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4434+4616G>A|||||||rs79310937||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29463517C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14534;gnomADv4_1_AC_joint_XX=7503;gnomADv4_1_AC_joint_XY=7031;gnomADv4_1_AF_grpmax_joint=0.133975;gnomADv4_1_AF_joint=0.0962772;gnomADv4_1_AF_joint_XX=0.0970709;gnomADv4_1_AF_joint_XY=0.0954443;gnomADv4_1_AN_grpmax_joint=15070;gnomADv4_1_AN_joint=150960;gnomADv4_1_AN_joint_XX=77294;gnomADv4_1_AN_joint_XY=73666;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=862;gnomADv4_1_nhomalt_joint_XX=430;gnomADv4_1_nhomalt_joint_XY=432;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29464468 chr22_29464468_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.315;CADD_Rawscore=0.202957;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+7838T>C|||||||rs380350||-1||HGNC|HGNC:9978|1||||||||Ensembl||A|A||||chr22:g.29464468A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+7838T>C|||||||rs380350||-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29464468A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+13542T>C|||||||rs380350||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29464468A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+7838T>C|||||||rs380350||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29464468A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+7838T>C|||||||rs380350||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29464468A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+13542T>C|||||||rs380350||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29464468A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+13542T>C|||||||rs380350||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29464468A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+14346T>C|||||||rs380350||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29464468A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4434+3665T>C|||||||rs380350||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29464468A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=139068;gnomADv4_1_AC_joint_XX=71108;gnomADv4_1_AC_joint_XY=67960;gnomADv4_1_AF_grpmax_joint=0.957334;gnomADv4_1_AF_joint=0.913779;gnomADv4_1_AF_joint_XX=0.914126;gnomADv4_1_AF_joint_XY=0.913416;gnomADv4_1_AN_grpmax_joint=41532;gnomADv4_1_AN_joint=152190;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=63804;gnomADv4_1_nhomalt_joint_XX=32626;gnomADv4_1_nhomalt_joint_XY=31178;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29464822 chr22_29464822_T_C T C 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.05;CADD_Rawscore=-0.005054;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+7484A>G|||||||rs62226125||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29464822T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+7484A>G|||||||rs62226125||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29464822T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+13188A>G|||||||rs62226125||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29464822T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+7484A>G|||||||rs62226125||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29464822T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+7484A>G|||||||rs62226125||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29464822T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+13188A>G|||||||rs62226125||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29464822T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+13188A>G|||||||rs62226125||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29464822T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+13992A>G|||||||rs62226125||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29464822T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4434+3311A>G|||||||rs62226125||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29464822T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20957;gnomADv4_1_AC_joint_XX=10941;gnomADv4_1_AC_joint_XY=10016;gnomADv4_1_AF_grpmax_joint=0.248299;gnomADv4_1_AF_joint=0.137688;gnomADv4_1_AF_joint_XX=0.140652;gnomADv4_1_AF_joint_XY=0.134591;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152206;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1960;gnomADv4_1_nhomalt_joint_XX=1027;gnomADv4_1_nhomalt_joint_XY=933;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29465229 chr22_29465229_CT_C CT C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.243;CADDIndel_Rawscore=-0.376034;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+7076del|||||||rs60856996||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29465231del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+7076del|||||||rs60856996||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29465231del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+12780del|||||||rs60856996||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29465231del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+7076del|||||||rs60856996||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29465231del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+7076del|||||||rs60856996||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29465231del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+12780del|||||||rs60856996||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29465231del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+12780del|||||||rs60856996||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29465231del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+13584del|||||||rs60856996||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29465231del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4434+2903del|||||||rs60856996||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29465231del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30686;gnomADv4_1_AC_joint_XX=15424;gnomADv4_1_AC_joint_XY=15262;gnomADv4_1_AF_grpmax_joint=0.27596;gnomADv4_1_AF_joint=0.202281;gnomADv4_1_AF_joint_XX=0.198814;gnomADv4_1_AF_joint_XY=0.205909;gnomADv4_1_AN_grpmax_joint=41314;gnomADv4_1_AN_joint=151700;gnomADv4_1_AN_joint_XX=77580;gnomADv4_1_AN_joint_XY=74120;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3518;gnomADv4_1_nhomalt_joint_XX=1742;gnomADv4_1_nhomalt_joint_XY=1776;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29465851 chr22_29465851_T_C T C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=2.008;CADD_Rawscore=0.164939;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+6455A>G|||||||rs447914||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29465851T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+6455A>G|||||||rs447914||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29465851T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+12159A>G|||||||rs447914||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29465851T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+6455A>G|||||||rs447914||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29465851T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+6455A>G|||||||rs447914||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29465851T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||||||||||rs447914|4414|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29465851T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+12159A>G|||||||rs447914||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29465851T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+12159A>G|||||||rs447914||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29465851T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+12963A>G|||||||rs447914||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29465851T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4434+2282A>G|||||||rs447914||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29465851T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29759;gnomADv4_1_AC_joint_XX=14923;gnomADv4_1_AC_joint_XY=14836;gnomADv4_1_AF_grpmax_joint=0.252448;gnomADv4_1_AF_joint=0.19576;gnomADv4_1_AF_joint_XX=0.192084;gnomADv4_1_AF_joint_XY=0.199602;gnomADv4_1_AN_grpmax_joint=41454;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3298;gnomADv4_1_nhomalt_joint_XX=1626;gnomADv4_1_nhomalt_joint_XY=1672;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29466959 chr22_29466959_C_T C T 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=3.058;CADD_Rawscore=0.27998;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+5347G>A|||||||rs12233366||-1||HGNC|HGNC:9978|1||||||||Ensembl||C|C||||chr22:g.29466959C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||||||||||rs12233366|4982|-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29466959C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+5347G>A|||||||rs12233366||-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29466959C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+11051G>A|||||||rs12233366||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29466959C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+5347G>A|||||||rs12233366||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29466959C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+5347G>A|||||||rs12233366||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29466959C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||||||||||rs12233366|3306|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29466959C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+11051G>A|||||||rs12233366||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29466959C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+11051G>A|||||||rs12233366||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29466959C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+11855G>A|||||||rs12233366||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29466959C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4434+1174G>A|||||||rs12233366||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29466959C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000248980,ENST00000419368,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16605;gnomADv4_1_AC_joint_XX=8690;gnomADv4_1_AC_joint_XY=7915;gnomADv4_1_AF_grpmax_joint=0.142148;gnomADv4_1_AF_joint=0.113223;gnomADv4_1_AF_joint_XX=0.114935;gnomADv4_1_AF_joint_XY=0.1114;gnomADv4_1_AN_grpmax_joint=14302;gnomADv4_1_AN_joint=146658;gnomADv4_1_AN_joint_XX=75608;gnomADv4_1_AN_joint_XY=71050;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1004;gnomADv4_1_nhomalt_joint_XX=505;gnomADv4_1_nhomalt_joint_XY=499;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29467132 chr22_29467132_C_G C G 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=11.09;CADD_Rawscore=1.07028;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+5174G>C|||||||rs146415584||-1||HGNC|HGNC:9978|1||||||||Ensembl||C|C||||chr22:g.29467132C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||||||||||rs146415584|4809|-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29467132C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+5174G>C|||||||rs146415584||-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29467132C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+10878G>C|||||||rs146415584||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29467132C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+5174G>C|||||||rs146415584||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29467132C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+5174G>C|||||||rs146415584||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29467132C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||||||||||rs146415584|3133|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29467132C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+10878G>C|||||||rs146415584||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29467132C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+10878G>C|||||||rs146415584||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29467132C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+11682G>C|||||||rs146415584||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29467132C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4434+1001G>C|||||||rs146415584||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29467132C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000248980,ENST00000419368,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=200;gnomADv4_1_AC_joint_XX=94;gnomADv4_1_AC_joint_XY=106;gnomADv4_1_AF_grpmax_joint=0.0136054;gnomADv4_1_AF_joint=0.00132151;gnomADv4_1_AF_joint_XX=0.0012134;gnomADv4_1_AF_joint_XY=0.00143488;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151342;gnomADv4_1_AN_joint_XX=77468;gnomADv4_1_AN_joint_XY=73874;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29467615 chr22_29467615_GTGCCCAGACTGGTGC_G GTGCCCAGACTGGTGC G 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=2.537;CADDIndel_Rawscore=0.227713;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+4676_271+4690del|||||||rs61641126||-1||HGNC|HGNC:9978|1||||||||Ensembl||TGCCCAGACTGGTGC|TGCCCAGACTGGTGC||||chr22:g.29467634_29467648del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||||||||||rs61641126|4311|-1||HGNC|HGNC:9978|4||||||||Ensembl||TGCCCAGACTGGTGC|TGCCCAGACTGGTGC||||chr22:g.29467634_29467648del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+4676_307+4690del|||||||rs61641126||-1||HGNC|HGNC:9978|4||||||||Ensembl||TGCCCAGACTGGTGC|TGCCCAGACTGGTGC||||chr22:g.29467634_29467648del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+10380_593+10394del|||||||rs61641126||-1||HGNC|HGNC:9978|||||||||Ensembl||TGCCCAGACTGGTGC|TGCCCAGACTGGTGC||||chr22:g.29467634_29467648del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+4676_276+4690del|||||||rs61641126||-1||HGNC|HGNC:9978|||||||||Ensembl||TGCCCAGACTGGTGC|TGCCCAGACTGGTGC||||chr22:g.29467634_29467648del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+4676_273+4690del|||||||rs61641126||-1||HGNC|HGNC:9978|||||||||Ensembl||TGCCCAGACTGGTGC|TGCCCAGACTGGTGC||||chr22:g.29467634_29467648del|||||||||||||,-|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||||||||||rs61641126|2635|-1||HGNC|HGNC:9978|||||||||Ensembl||TGCCCAGACTGGTGC|TGCCCAGACTGGTGC||||chr22:g.29467634_29467648del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+10380_125+10394del|||||||rs61641126||-1||HGNC|HGNC:9978|||||||||Ensembl||TGCCCAGACTGGTGC|TGCCCAGACTGGTGC||||chr22:g.29467634_29467648del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+10380_163+10394del|||||||rs61641126||-1||HGNC|HGNC:9978|||||||||Ensembl||TGCCCAGACTGGTGC|TGCCCAGACTGGTGC||||chr22:g.29467634_29467648del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+11184_110+11198del|||||||rs61641126||-1||HGNC|HGNC:9978|||||||||Ensembl||TGCCCAGACTGGTGC|TGCCCAGACTGGTGC||||chr22:g.29467634_29467648del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4434+503_4434+517del|||||||rs61641126||-1||EntrezGene||||||||||RefSeq||TGCCCAGACTGGTGC|TGCCCAGACTGGTGC||||chr22:g.29467634_29467648del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000248980,ENST00000419368,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46965;gnomADv4_1_AC_joint_XX=24253;gnomADv4_1_AC_joint_XY=22712;gnomADv4_1_AF_grpmax_joint=0.458904;gnomADv4_1_AF_joint=0.309485;gnomADv4_1_AF_joint_XX=0.312442;gnomADv4_1_AF_joint_XY=0.306389;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151752;gnomADv4_1_AN_joint_XX=77624;gnomADv4_1_AN_joint_XY=74128;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8942;gnomADv4_1_nhomalt_joint_XX=4647;gnomADv4_1_nhomalt_joint_XY=4295;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29467933 chr22_29467933_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.571;CADD_Rawscore=-0.159857;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+4373G>A|||||||rs424541||-1||HGNC|HGNC:9978|1||||||||Ensembl||C|C||||chr22:g.29467933C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||||||||||rs424541|4008|-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29467933C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+4373G>A|||||||rs424541||-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29467933C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+10077G>A|||||||rs424541||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29467933C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+4373G>A|||||||rs424541||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29467933C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+4373G>A|||||||rs424541||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29467933C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||||||||||rs424541|2332|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29467933C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+10077G>A|||||||rs424541||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29467933C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+10077G>A|||||||rs424541||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29467933C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+10881G>A|||||||rs424541||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29467933C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4434+200G>A|||||||rs424541||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29467933C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000248980,ENST00000419368,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18718;gnomADv4_1_AC_joint_XX=9176;gnomADv4_1_AC_joint_XY=9542;gnomADv4_1_AF_grpmax_joint=0.166181;gnomADv4_1_AF_joint=0.123091;gnomADv4_1_AF_joint_XX=0.117986;gnomADv4_1_AF_joint_XY=0.128436;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1589;gnomADv4_1_nhomalt_joint_XX=763;gnomADv4_1_nhomalt_joint_XY=826;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29467955 chr22_29467955_G_A G A 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=27;CADD_PHREDscore=0.961;CADD_Rawscore=-0.028219;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+4351C>T|||||||rs191356840||-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29467955G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||||||||||rs191356840|3986|-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29467955G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+4351C>T|||||||rs191356840||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29467955G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+10055C>T|||||||rs191356840||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29467955G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+4351C>T|||||||rs191356840||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29467955G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+4351C>T|||||||rs191356840||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29467955G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||||||||||rs191356840|2310|-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29467955G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+10055C>T|||||||rs191356840||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29467955G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+10055C>T|||||||rs191356840||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29467955G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+10859C>T|||||||rs191356840||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29467955G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||2/3|XR_001755482.2:n.4434+178C>T|||||||rs191356840||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29467955G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000419368,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=201;gnomADv4_1_AC_joint_XX=94;gnomADv4_1_AC_joint_XY=107;gnomADv4_1_AF_grpmax_joint=0.0136054;gnomADv4_1_AF_joint=0.0013215;gnomADv4_1_AF_joint_XX=0.00120891;gnomADv4_1_AF_joint_XY=0.00143926;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29468684 chr22_29468684_T_C T C 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=4.757;CADD_Rawscore=0.433323;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+3622A>G|||||||rs5752923||-1||HGNC|HGNC:9978|1||||||||Ensembl||T|T||||chr22:g.29468684T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||||||||||rs5752923|3257|-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29468684T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+3622A>G|||||||rs5752923||-1||HGNC|HGNC:9978|4||||||||Ensembl||T|T||||chr22:g.29468684T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+9326A>G|||||||rs5752923||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29468684T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+3622A>G|||||||rs5752923||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29468684T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+3622A>G|||||||rs5752923||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29468684T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||||||||||rs5752923|1581|-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29468684T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+9326A>G|||||||rs5752923||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29468684T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+9326A>G|||||||rs5752923||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29468684T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+10130A>G|||||||rs5752923||-1||HGNC|HGNC:9978|||||||||Ensembl||T|T||||chr22:g.29468684T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA|2/4||XR_001755482.2:n.3883A>G||3883|||||rs5752923||-1||EntrezGene||||||||||RefSeq||T|T||||chr22:g.29468684T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000419368,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17394;gnomADv4_1_AC_joint_XX=9012;gnomADv4_1_AC_joint_XY=8382;gnomADv4_1_AF_grpmax_joint=0.142145;gnomADv4_1_AF_joint=0.114421;gnomADv4_1_AF_joint_XX=0.115937;gnomADv4_1_AF_joint_XY=0.112834;gnomADv4_1_AN_grpmax_joint=15252;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1050;gnomADv4_1_nhomalt_joint_XX=519;gnomADv4_1_nhomalt_joint_XY=531;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29470467 chr22_29470467_G_C G C 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.135;CADD_Rawscore=-0.531722;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||2/2|ENST00000248980.9:n.271+1839C>G|||||||rs28380||-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29470467G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||||||||||rs28380|1474|-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29470467G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||2/2|ENST00000461286.4:n.307+1839C>G|||||||rs28380||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29470467G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+7543C>G|||||||rs28380||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29470467G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||3/3|ENST00000658349.2:n.276+1839C>G|||||||rs28380||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29470467G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||2/2|ENST00000661328.1:n.273+1839C>G|||||||rs28380||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29470467G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA|3/3||ENST00000669415.1:n.849C>G||849|||||rs28380||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29470467G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+7543C>G|||||||rs28380||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29470467G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+7543C>G|||||||rs28380||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29470467G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+8347C>G|||||||rs28380||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29470467G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA|2/4||XR_001755482.2:n.2100C>G||2100|||||rs28380||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29470467G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4WXS|enhancer||||||||||rs28380|||||||||||||||||||||chr22:g.29470467G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000419368,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2,ENSR22_C4WXS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541,.;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=104809;gnomADv4_1_AC_joint_XX=53333;gnomADv4_1_AC_joint_XY=51476;gnomADv4_1_AF_grpmax_joint=0.899304;gnomADv4_1_AF_joint=0.6885;gnomADv4_1_AF_joint_XX=0.685567;gnomADv4_1_AF_joint_XY=0.691566;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152228;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=37772;gnomADv4_1_nhomalt_joint_XX=19150;gnomADv4_1_nhomalt_joint_XY=18622;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29472459 chr22_29472459_CA_C CA C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=0.321;CADDIndel_Rawscore=-0.304442;CSQ=-|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||1/2|ENST00000248980.9:n.128-11del|||||||rs35069565||-1||HGNC|HGNC:9978|1||||||||Ensembl||A|A||||chr22:g.29472473del|||||||||||||,-|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||1/1|ENST00000419368.1:n.62-11del|||||||rs35069565||-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29472473del|||||||||||||,-|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||1/2|ENST00000461286.4:n.167-14del|||||||rs35069565||-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29472473del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+5550del|||||||rs35069565||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29472473del|||||||||||||,-|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||2/3|ENST00000658349.2:n.133-11del|||||||rs35069565||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29472473del|||||||||||||,-|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||1/2|ENST00000661328.1:n.130-11del|||||||rs35069565||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29472473del|||||||||||||,-|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||1/2|ENST00000669415.1:n.148-14del|||||||rs35069565||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29472473del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+5550del|||||||rs35069565||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29472473del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+5550del|||||||rs35069565||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29472473del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+6354del|||||||rs35069565||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29472473del|||||||||||||,-|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||1/3|XR_001755482.2:n.118-11del|||||||rs35069565||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29472473del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000248980,ENST00000419368,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12551;gnomADv4_1_AC_joint_XX=6401;gnomADv4_1_AC_joint_XY=6150;gnomADv4_1_AF_grpmax_joint=0.375816;gnomADv4_1_AF_joint=0.0908874;gnomADv4_1_AF_joint_XX=0.0894844;gnomADv4_1_AF_joint_XY=0.0923951;gnomADv4_1_AN_grpmax_joint=4904;gnomADv4_1_AN_joint=138094;gnomADv4_1_AN_joint_XX=71532;gnomADv4_1_AN_joint_XY=66562;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=753;gnomADv4_1_nhomalt_joint_XX=370;gnomADv4_1_nhomalt_joint_XY=383;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29472636 chr22_29472636_CAGAT_C;chr22_29472636_CAGATAGAT_C;chr22_29472636_C_CAGAT CAGAT C 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.713;CADDIndel_Rawscore=-0.104383;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||1/2|ENST00000248980.9:n.128-191_128-188del|||||||rs3044141||-1||HGNC|HGNC:9978|1||||||||Ensembl||AGAT|AGAT||||chr22:g.29472686_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||1/1|ENST00000419368.1:n.62-191_62-188del|||||||rs3044141||-1||HGNC|HGNC:9978|4||||||||Ensembl||AGAT|AGAT||||chr22:g.29472686_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||1/2|ENST00000461286.4:n.167-194_167-191del|||||||rs3044141||-1||HGNC|HGNC:9978|4||||||||Ensembl||AGAT|AGAT||||chr22:g.29472686_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+5370_593+5373del|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl||AGAT|AGAT||||chr22:g.29472686_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||2/3|ENST00000658349.2:n.133-191_133-188del|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl||AGAT|AGAT||||chr22:g.29472686_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||1/2|ENST00000661328.1:n.130-191_130-188del|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl||AGAT|AGAT||||chr22:g.29472686_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||1/2|ENST00000669415.1:n.148-194_148-191del|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl||AGAT|AGAT||||chr22:g.29472686_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+5370_125+5373del|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl||AGAT|AGAT||||chr22:g.29472686_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+5370_163+5373del|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl||AGAT|AGAT||||chr22:g.29472686_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+6174_110+6177del|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl||AGAT|AGAT||||chr22:g.29472686_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||1/3|XR_001755482.2:n.118-191_118-188del|||||||rs3044141||-1||EntrezGene||||||||||RefSeq||AGAT|AGAT||||chr22:g.29472686_29472689del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000248980,ENST00000419368,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39853;gnomADv4_1_AC_joint_XX=20444;gnomADv4_1_AC_joint_XY=19409;gnomADv4_1_AF_grpmax_joint=0.352278;gnomADv4_1_AF_joint=0.278221;gnomADv4_1_AF_joint_XX=0.275838;gnomADv4_1_AF_joint_XY=0.280777;gnomADv4_1_AN_grpmax_joint=4258;gnomADv4_1_AN_joint=143242;gnomADv4_1_AN_joint_XX=74116;gnomADv4_1_AN_joint_XY=69126;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5595;gnomADv4_1_nhomalt_joint_XX=2854;gnomADv4_1_nhomalt_joint_XY=2741;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29472636 chr22_29472636_CAGAT_C;chr22_29472636_CAGATAGAT_C;chr22_29472636_C_CAGAT CAGATAGAT C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.751;CADDIndel_Rawscore=-0.090999;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||1/2|ENST00000248980.9:n.128-195_128-188del|||||||rs3044141||-1||HGNC|HGNC:9978|1||||||||Ensembl||AGATAGAT|AGATAGAT||||chr22:g.29472682_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||1/1|ENST00000419368.1:n.62-195_62-188del|||||||rs3044141||-1||HGNC|HGNC:9978|4||||||||Ensembl||AGATAGAT|AGATAGAT||||chr22:g.29472682_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||1/2|ENST00000461286.4:n.167-198_167-191del|||||||rs3044141||-1||HGNC|HGNC:9978|4||||||||Ensembl||AGATAGAT|AGATAGAT||||chr22:g.29472682_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+5366_593+5373del|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl||AGATAGAT|AGATAGAT||||chr22:g.29472682_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||2/3|ENST00000658349.2:n.133-195_133-188del|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl||AGATAGAT|AGATAGAT||||chr22:g.29472682_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||1/2|ENST00000661328.1:n.130-195_130-188del|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl||AGATAGAT|AGATAGAT||||chr22:g.29472682_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||1/2|ENST00000669415.1:n.148-198_148-191del|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl||AGATAGAT|AGATAGAT||||chr22:g.29472682_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+5366_125+5373del|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl||AGATAGAT|AGATAGAT||||chr22:g.29472682_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+5366_163+5373del|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl||AGATAGAT|AGATAGAT||||chr22:g.29472682_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+6170_110+6177del|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl||AGATAGAT|AGATAGAT||||chr22:g.29472682_29472689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||1/3|XR_001755482.2:n.118-195_118-188del|||||||rs3044141||-1||EntrezGene||||||||||RefSeq||AGATAGAT|AGATAGAT||||chr22:g.29472682_29472689del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000248980,ENST00000419368,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26232;gnomADv4_1_AC_joint_XX=13727;gnomADv4_1_AC_joint_XY=12505;gnomADv4_1_AF_grpmax_joint=0.192241;gnomADv4_1_AF_joint=0.18298;gnomADv4_1_AF_joint_XX=0.185065;gnomADv4_1_AF_joint_XY=0.180745;gnomADv4_1_AN_grpmax_joint=38332;gnomADv4_1_AN_joint=143360;gnomADv4_1_AN_joint_XX=74174;gnomADv4_1_AN_joint_XY=69186;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2347;gnomADv4_1_nhomalt_joint_XX=1228;gnomADv4_1_nhomalt_joint_XY=1119;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29472636 chr22_29472636_CAGAT_C;chr22_29472636_CAGATAGAT_C;chr22_29472636_C_CAGAT C CAGAT 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=0.806;CADDIndel_Rawscore=-0.073253;CSQ=AGAT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||1/2|ENST00000248980.9:n.128-191_128-188dup|||||||rs3044141||-1||HGNC|HGNC:9978|1||||||||Ensembl|||||||chr22:g.29472686_29472689dup|||||||||||||,AGAT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||1/1|ENST00000419368.1:n.62-191_62-188dup|||||||rs3044141||-1||HGNC|HGNC:9978|4||||||||Ensembl|||||||chr22:g.29472686_29472689dup|||||||||||||,AGAT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||1/2|ENST00000461286.4:n.167-194_167-191dup|||||||rs3044141||-1||HGNC|HGNC:9978|4||||||||Ensembl|||||||chr22:g.29472686_29472689dup|||||||||||||,AGAT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+5370_593+5373dup|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29472686_29472689dup|||||||||||||,AGAT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||2/3|ENST00000658349.2:n.133-191_133-188dup|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29472686_29472689dup|||||||||||||,AGAT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||1/2|ENST00000661328.1:n.130-191_130-188dup|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29472686_29472689dup|||||||||||||,AGAT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||1/2|ENST00000669415.1:n.148-194_148-191dup|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29472686_29472689dup|||||||||||||,AGAT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+5370_125+5373dup|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29472686_29472689dup|||||||||||||,AGAT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+5370_163+5373dup|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29472686_29472689dup|||||||||||||,AGAT|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+6174_110+6177dup|||||||rs3044141||-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29472686_29472689dup|||||||||||||,AGAT|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||1/3|XR_001755482.2:n.118-191_118-188dup|||||||rs3044141||-1||EntrezGene||||||||||RefSeq|||||||chr22:g.29472686_29472689dup|||||||||||||;TYPE=INDEL;VEP_Allele=AGAT,AGAT,AGAT,AGAT,AGAT,AGAT,AGAT,AGAT,AGAT,AGAT,AGAT;VEP_Feature=ENST00000248980,ENST00000419368,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14828;gnomADv4_1_AC_joint_XX=7787;gnomADv4_1_AC_joint_XY=7041;gnomADv4_1_AF_grpmax_joint=0.135714;gnomADv4_1_AF_joint=0.1034;gnomADv4_1_AF_joint_XX=0.104969;gnomADv4_1_AF_joint_XY=0.101719;gnomADv4_1_AN_grpmax_joint=280;gnomADv4_1_AN_joint=143404;gnomADv4_1_AN_joint_XX=74184;gnomADv4_1_AN_joint_XY=69220;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=797;gnomADv4_1_nhomalt_joint_XX=422;gnomADv4_1_nhomalt_joint_XY=375;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29472866 chr22_29472866_G_C G C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.979;CADD_Rawscore=0.161109;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||1/2|ENST00000248980.9:n.128-417C>G|||||||rs174649||-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29472866G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||1/1|ENST00000419368.1:n.62-417C>G|||||||rs174649||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29472866G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||1/2|ENST00000461286.4:n.167-420C>G|||||||rs174649||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29472866G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+5144C>G|||||||rs174649||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29472866G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||2/3|ENST00000658349.2:n.133-417C>G|||||||rs174649||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29472866G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||1/2|ENST00000661328.1:n.130-417C>G|||||||rs174649||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29472866G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||1/2|ENST00000669415.1:n.148-420C>G|||||||rs174649||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29472866G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+5144C>G|||||||rs174649||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29472866G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+5144C>G|||||||rs174649||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29472866G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+5948C>G|||||||rs174649||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29472866G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||1/3|XR_001755482.2:n.118-417C>G|||||||rs174649||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29472866G>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000419368,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18594;gnomADv4_1_AC_joint_XX=9115;gnomADv4_1_AC_joint_XY=9479;gnomADv4_1_AF_grpmax_joint=0.16639;gnomADv4_1_AF_joint=0.122255;gnomADv4_1_AF_joint_XX=0.117235;gnomADv4_1_AF_joint_XY=0.127505;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1577;gnomADv4_1_nhomalt_joint_XX=757;gnomADv4_1_nhomalt_joint_XY=820;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29474096 chr22_29474096_A_C A C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.808;CADD_Rawscore=0.255751;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||1/2|ENST00000248980.9:n.128-1647T>G|||||||rs8140270||-1||HGNC|HGNC:9978|1||||||||Ensembl||A|A||||chr22:g.29474096A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||1/1|ENST00000419368.1:n.62-1647T>G|||||||rs8140270||-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29474096A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||1/2|ENST00000461286.4:n.167-1650T>G|||||||rs8140270||-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29474096A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+3914T>G|||||||rs8140270||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29474096A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||2/3|ENST00000658349.2:n.133-1647T>G|||||||rs8140270||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29474096A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||1/2|ENST00000661328.1:n.130-1647T>G|||||||rs8140270||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29474096A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||1/2|ENST00000669415.1:n.148-1650T>G|||||||rs8140270||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29474096A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+3914T>G|||||||rs8140270||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29474096A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+3914T>G|||||||rs8140270||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29474096A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+4718T>G|||||||rs8140270||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29474096A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||1/3|XR_001755482.2:n.118-1647T>G|||||||rs8140270||-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29474096A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000419368,ENST00000461286,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,107985541;VEP_SYMBOL=RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12797;gnomADv4_1_AC_joint_XX=6505;gnomADv4_1_AC_joint_XY=6292;gnomADv4_1_AF_grpmax_joint=0.374854;gnomADv4_1_AF_joint=0.0841122;gnomADv4_1_AF_joint_XX=0.0836312;gnomADv4_1_AF_joint_XY=0.0846154;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=811;gnomADv4_1_nhomalt_joint_XX=399;gnomADv4_1_nhomalt_joint_XY=412;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29475746 chr22_29475746_G_T G T 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=1.741;CADD_Rawscore=0.127272;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||1/2|ENST00000248980.9:n.127+2264C>A|||||||rs165869||-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29475746G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs165869|4472|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||G|G||1||chr22:g.29475746G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||1/1|ENST00000419368.1:n.61+2264C>A|||||||rs165869||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29475746G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||1/2|ENST00000461286.4:n.166+2264C>A|||||||rs165869||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29475746G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs165869|4474|-1||||5||||||||Ensembl||G|G||||chr22:g.29475746G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+2264C>A|||||||rs165869||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29475746G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||2/3|ENST00000658349.2:n.132+2264C>A|||||||rs165869||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29475746G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||1/2|ENST00000661328.1:n.129+2264C>A|||||||rs165869||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29475746G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||1/2|ENST00000669415.1:n.147+2264C>A|||||||rs165869||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29475746G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+2264C>A|||||||rs165869||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29475746G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+2264C>A|||||||rs165869||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29475746G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+3068C>A|||||||rs165869||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29475746G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs165869|4472|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||G|G||||chr22:g.29475746G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs165869|4472|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||G|G||||chr22:g.29475746G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||1/3|XR_001755482.2:n.117+2264C>A|||||||rs165869||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29475746G>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8TDQP|enhancer||||||||||rs165869|||||||||||||||||||||chr22:g.29475746G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000248980,ENST00000310624,ENST00000419368,ENST00000461286,ENST00000634116,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,NM_021076.4,XM_011530200.3,XR_001755482.2,ENSR22_8TDQP;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000225465,ENSG00000100285,ENSG00000225465,ENSG00000225465,ENSG00000282816,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,4744,4744,107985541,.;VEP_SYMBOL=RFPL1S,NEFH,RFPL1S,RFPL1S,.,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,NEFH,NEFH,LOC107985541,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18711;gnomADv4_1_AC_joint_XX=9163;gnomADv4_1_AC_joint_XY=9548;gnomADv4_1_AF_grpmax_joint=0.16639;gnomADv4_1_AF_joint=0.122932;gnomADv4_1_AF_joint_XX=0.117761;gnomADv4_1_AF_joint_XY=0.12834;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152206;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1587;gnomADv4_1_nhomalt_joint_XX=759;gnomADv4_1_nhomalt_joint_XY=828;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29476171 chr22_29476171_G_C G C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=5.144;CADD_Rawscore=0.469413;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||1/2|ENST00000248980.9:n.127+1839C>G|||||||rs58619916||-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29476171G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs58619916|4047|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||G|G||1||chr22:g.29476171G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||1/1|ENST00000419368.1:n.61+1839C>G|||||||rs58619916||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29476171G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||1/2|ENST00000461286.4:n.166+1839C>G|||||||rs58619916||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29476171G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs58619916|4049|-1||||5||||||||Ensembl||G|G||||chr22:g.29476171G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+1839C>G|||||||rs58619916||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29476171G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||2/3|ENST00000658349.2:n.132+1839C>G|||||||rs58619916||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29476171G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||1/2|ENST00000661328.1:n.129+1839C>G|||||||rs58619916||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29476171G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||1/2|ENST00000669415.1:n.147+1839C>G|||||||rs58619916||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29476171G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+1839C>G|||||||rs58619916||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29476171G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+1839C>G|||||||rs58619916||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29476171G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+2643C>G|||||||rs58619916||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29476171G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs58619916|4047|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||G|G||||chr22:g.29476171G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs58619916|4047|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||G|G||||chr22:g.29476171G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||1/3|XR_001755482.2:n.117+1839C>G|||||||rs58619916||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29476171G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000310624,ENST00000419368,ENST00000461286,ENST00000634116,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,NM_021076.4,XM_011530200.3,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000100285,ENSG00000225465,ENSG00000225465,ENSG00000282816,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,4744,4744,107985541;VEP_SYMBOL=RFPL1S,NEFH,RFPL1S,RFPL1S,.,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,NEFH,NEFH,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11948;gnomADv4_1_AC_joint_XX=6053;gnomADv4_1_AC_joint_XY=5895;gnomADv4_1_AF_grpmax_joint=0.373629;gnomADv4_1_AF_joint=0.0785205;gnomADv4_1_AF_joint_XX=0.0778361;gnomADv4_1_AF_joint_XY=0.079236;gnomADv4_1_AN_grpmax_joint=5104;gnomADv4_1_AN_joint=152164;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=775;gnomADv4_1_nhomalt_joint_XX=378;gnomADv4_1_nhomalt_joint_XY=397;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29477505 chr22_29477505_C_A C A 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.81;CADD_Rawscore=-0.072077;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||1/2|ENST00000248980.9:n.127+505G>T|||||||rs165627||-1||HGNC|HGNC:9978|1||||||||Ensembl||C|C||||chr22:g.29477505C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs165627|2713|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||C|C||1||chr22:g.29477505C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||1/1|ENST00000419368.1:n.61+505G>T|||||||rs165627||-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29477505C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||1/2|ENST00000461286.4:n.166+505G>T|||||||rs165627||-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29477505C>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs165627|2715|-1||||5||||||||Ensembl||C|C||||chr22:g.29477505C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+505G>T|||||||rs165627||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29477505C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||2/3|ENST00000658349.2:n.132+505G>T|||||||rs165627||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29477505C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||1/2|ENST00000661328.1:n.129+505G>T|||||||rs165627||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29477505C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||1/2|ENST00000669415.1:n.147+505G>T|||||||rs165627||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29477505C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+505G>T|||||||rs165627||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29477505C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+505G>T|||||||rs165627||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29477505C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+1309G>T|||||||rs165627||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29477505C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs165627|2713|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||C|C||||chr22:g.29477505C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs165627|2713|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||C|C||||chr22:g.29477505C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||1/3|XR_001755482.2:n.117+505G>T|||||||rs165627||-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29477505C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000248980,ENST00000310624,ENST00000419368,ENST00000461286,ENST00000634116,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,NM_021076.4,XM_011530200.3,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000100285,ENSG00000225465,ENSG00000225465,ENSG00000282816,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,4744,4744,107985541;VEP_SYMBOL=RFPL1S,NEFH,RFPL1S,RFPL1S,.,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,NEFH,NEFH,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=139283;gnomADv4_1_AC_joint_XX=71242;gnomADv4_1_AC_joint_XY=68041;gnomADv4_1_AF_grpmax_joint=0.959647;gnomADv4_1_AF_joint=0.914915;gnomADv4_1_AF_joint_XX=0.915377;gnomADv4_1_AF_joint_XY=0.914431;gnomADv4_1_AN_grpmax_joint=41558;gnomADv4_1_AN_joint=152236;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=63981;gnomADv4_1_nhomalt_joint_XX=32731;gnomADv4_1_nhomalt_joint_XY=31250;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29477519 chr22_29477519_G_C G C 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.586;CADD_Rawscore=-0.153378;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||1/2|ENST00000248980.9:n.127+491C>G|||||||rs768835554||-1||HGNC|HGNC:9978|1||||||||Ensembl||G|G||||chr22:g.29477519G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs768835554|2699|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||G|G||1||chr22:g.29477519G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||1/1|ENST00000419368.1:n.61+491C>G|||||||rs768835554||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29477519G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||1/2|ENST00000461286.4:n.166+491C>G|||||||rs768835554||-1||HGNC|HGNC:9978|4||||||||Ensembl||G|G||||chr22:g.29477519G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs768835554|2701|-1||||5||||||||Ensembl||G|G||||chr22:g.29477519G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||1/1|ENST00000657516.2:n.593+491C>G|||||||rs768835554||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29477519G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||2/3|ENST00000658349.2:n.132+491C>G|||||||rs768835554||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29477519G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||1/2|ENST00000661328.1:n.129+491C>G|||||||rs768835554||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29477519G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||1/2|ENST00000669415.1:n.147+491C>G|||||||rs768835554||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29477519G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||1/5|ENST00000752427.1:n.125+491C>G|||||||rs768835554||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29477519G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||2/2|ENST00000752428.1:n.163+491C>G|||||||rs768835554||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29477519G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+1295C>G|||||||rs768835554||-1||HGNC|HGNC:9978|||||||||Ensembl||G|G||||chr22:g.29477519G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs768835554|2699|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||G|G||||chr22:g.29477519G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs768835554|2699|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||G|G||||chr22:g.29477519G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||1/3|XR_001755482.2:n.117+491C>G|||||||rs768835554||-1||EntrezGene||||||||||RefSeq||G|G||||chr22:g.29477519G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000248980,ENST00000310624,ENST00000419368,ENST00000461286,ENST00000634116,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,NM_021076.4,XM_011530200.3,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000100285,ENSG00000225465,ENSG00000225465,ENSG00000282816,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,4744,4744,107985541;VEP_SYMBOL=RFPL1S,NEFH,RFPL1S,RFPL1S,.,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,NEFH,NEFH,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=124;gnomADv4_1_AC_joint_XX=57;gnomADv4_1_AC_joint_XY=67;gnomADv4_1_AF_grpmax_joint=0.00023517;gnomADv4_1_AF_joint=0.000814846;gnomADv4_1_AF_joint_XX=0.000732253;gnomADv4_1_AF_joint_XY=0.000901337;gnomADv4_1_AN_grpmax_joint=68036;gnomADv4_1_AN_joint=152176;gnomADv4_1_AN_joint_XX=77842;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29478261 chr22_29478261_A_G A G 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=9.98;CADD_Rawscore=0.970008;CSQ=G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs165649|125|-1||HGNC|HGNC:9978|1||||||||Ensembl||A|A||||chr22:g.29478261A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs165649|1957|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||A|A||1||chr22:g.29478261A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||||||||||rs165649|191|-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29478261A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||||||||||rs165649|86|-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29478261A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs165649|1959|-1||||5||||||||Ensembl||A|A||||chr22:g.29478261A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA|1/2||ENST00000657516.2:n.342T>C||342|||||rs165649||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29478261A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||1/3|ENST00000658349.2:n.68-187T>C|||||||rs165649||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29478261A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs165649|123|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29478261A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||||||||||rs165649|105|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29478261A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs165649|127|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29478261A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||1/2|ENST00000752428.1:n.99-187T>C|||||||rs165649||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29478261A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+553T>C|||||||rs165649||-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29478261A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs165649|1957|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||A|A||||chr22:g.29478261A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs165649|1957|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||A|A||||chr22:g.29478261A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs165649|135|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29478261A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8TDS5|promoter||||||||||rs165649|||||||||||||||||||||chr22:g.29478261A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000248980,ENST00000310624,ENST00000419368,ENST00000461286,ENST00000634116,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,NM_021076.4,XM_011530200.3,XR_001755482.2,ENSR22_8TDS5;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000225465,ENSG00000100285,ENSG00000225465,ENSG00000225465,ENSG00000282816,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,4744,4744,107985541,.;VEP_SYMBOL=RFPL1S,NEFH,RFPL1S,RFPL1S,.,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,NEFH,NEFH,LOC107985541,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18760;gnomADv4_1_AC_joint_XX=9186;gnomADv4_1_AC_joint_XY=9574;gnomADv4_1_AF_grpmax_joint=0.166528;gnomADv4_1_AF_joint=0.122978;gnomADv4_1_AF_joint_XX=0.118002;gnomADv4_1_AF_joint_XY=0.128163;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152548;gnomADv4_1_AN_joint_XX=77846;gnomADv4_1_AN_joint_XY=74702;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1590;gnomADv4_1_nhomalt_joint_XX=762;gnomADv4_1_nhomalt_joint_XY=828;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29478767 chr22_29478767_C_G C G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.317;CADD_Rawscore=0.304091;CSQ=G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs165823|631|-1||HGNC|HGNC:9978|1||||||||Ensembl||C|C||||chr22:g.29478767C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs165823|1451|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||C|C||1||chr22:g.29478767C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||||||||||rs165823|697|-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29478767C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||||||||||rs165823|592|-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29478767C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs165823|1453|-1||||5||||||||Ensembl||C|C||||chr22:g.29478767C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs165823|165|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29478767C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||1/3|ENST00000658349.2:n.67+47G>C|||||||rs165823||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29478767C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs165823|629|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29478767C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||||||||||rs165823|611|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29478767C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs165823|633|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29478767C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||1/2|ENST00000752428.1:n.98+47G>C|||||||rs165823||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29478767C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||1/1|ENST00000752429.1:n.110+47G>C|||||||rs165823||-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29478767C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs165823|1451|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||C|C||||chr22:g.29478767C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs165823|1451|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||C|C||||chr22:g.29478767C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs165823|641|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29478767C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7SXS|enhancer||||||||||rs165823|||||||||||||||||||||chr22:g.29478767C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000248980,ENST00000310624,ENST00000419368,ENST00000461286,ENST00000634116,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,NM_021076.4,XM_011530200.3,XR_001755482.2,ENSR22_B7SXS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000225465,ENSG00000100285,ENSG00000225465,ENSG00000225465,ENSG00000282816,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,4744,4744,107985541,.;VEP_SYMBOL=RFPL1S,NEFH,RFPL1S,RFPL1S,.,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,NEFH,NEFH,LOC107985541,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18640;gnomADv4_1_AC_joint_XX=9136;gnomADv4_1_AC_joint_XY=9504;gnomADv4_1_AF_grpmax_joint=0.167358;gnomADv4_1_AF_joint=0.122466;gnomADv4_1_AF_joint_XX=0.117444;gnomADv4_1_AF_joint_XY=0.127714;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152206;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1587;gnomADv4_1_nhomalt_joint_XX=758;gnomADv4_1_nhomalt_joint_XY=829;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29481428 chr22_29481428_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=2.55;CADD_Rawscore=0.229091;CSQ=T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs165607|3292|-1||HGNC|HGNC:9978|1||||||||Ensembl||C|C||||chr22:g.29481428C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||1/3|ENST00000310624.7:c.883+283C>T|||||||rs165607||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||C|C||1||chr22:g.29481428C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||||||||||rs165607|3358|-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29481428C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||||||||||rs165607|3253|-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29481428C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs165607|315|-1||||5||||||||Ensembl||C|C||||chr22:g.29481428C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs165607|2826|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29481428C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs165607|2548|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29481428C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs165607|3290|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29481428C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||||||||||rs165607|3272|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29481428C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs165607|3294|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29481428C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs165607|2517|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29481428C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs165607|2505|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29481428C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||1/3|NM_021076.4:c.883+283C>T|||||||rs165607||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||C|C||||chr22:g.29481428C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||1/4|XM_011530200.3:c.883+283C>T|||||||rs165607||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||C|C||||chr22:g.29481428C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs165607|3302|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29481428C>T|benign||1||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FNXH|promoter||||||||||rs165607|||||||||||||||||||||chr22:g.29481428C>T|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29481428C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NEFH:4744;ClinVar_Variation_ID=1291663;SpliceAI=T|NEFH|0.00|0.00|0.00|0.00|-10|28|37|-12;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000248980,ENST00000310624,ENST00000419368,ENST00000461286,ENST00000634116,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,NM_021076.4,XM_011530200.3,XR_001755482.2,ENSR22_9FNXH;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000225465,ENSG00000100285,ENSG00000225465,ENSG00000225465,ENSG00000282816,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,4744,4744,107985541,.;VEP_SYMBOL=RFPL1S,NEFH,RFPL1S,RFPL1S,.,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,NEFH,NEFH,LOC107985541,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18594;gnomADv4_1_AC_joint_XX=9116;gnomADv4_1_AC_joint_XY=9478;gnomADv4_1_AF_grpmax_joint=0.166181;gnomADv4_1_AF_joint=0.12225;gnomADv4_1_AF_joint_XX=0.117266;gnomADv4_1_AF_joint_XY=0.127461;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1575;gnomADv4_1_nhomalt_joint_XX=755;gnomADv4_1_nhomalt_joint_XY=820;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29481568 chr22_29481568_C_T C T 55 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=10.04;CADD_Rawscore=0.974677;CSQ=T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs165697|3432|-1||HGNC|HGNC:9978|1||||||||Ensembl||C|C||||chr22:g.29481568C>T|||||||||||||,T|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||1/3|ENST00000310624.7:c.883+423C>T|||||||rs165697||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||C|C||1||chr22:g.29481568C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||||||||||rs165697|3498|-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29481568C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||||||||||rs165697|3393|-1||HGNC|HGNC:9978|4||||||||Ensembl||C|C||||chr22:g.29481568C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs165697|455|-1||||5||||||||Ensembl||C|C||||chr22:g.29481568C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs165697|2966|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29481568C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs165697|2688|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29481568C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs165697|3430|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29481568C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||||||||||rs165697|3412|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29481568C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs165697|3434|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29481568C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs165697|2657|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29481568C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs165697|2645|-1||HGNC|HGNC:9978|||||||||Ensembl||C|C||||chr22:g.29481568C>T|||||||||||||,T|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||1/3|NM_021076.4:c.883+423C>T|||||||rs165697||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||C|C||||chr22:g.29481568C>T|||||||||||||,T|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||1/4|XM_011530200.3:c.883+423C>T|||||||rs165697||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||C|C||||chr22:g.29481568C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs165697|3442|-1||EntrezGene||||||||||RefSeq||C|C||||chr22:g.29481568C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FNXH|promoter||||||||||rs165697|||||||||||||||||||||chr22:g.29481568C>T|||||||||||||;SpliceAI=T|NEFH|0.00|0.00|0.00|0.00|20|47|-33|14;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000248980,ENST00000310624,ENST00000419368,ENST00000461286,ENST00000634116,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,NM_021076.4,XM_011530200.3,XR_001755482.2,ENSR22_9FNXH;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000225465,ENSG00000100285,ENSG00000225465,ENSG00000225465,ENSG00000282816,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,4744,4744,107985541,.;VEP_SYMBOL=RFPL1S,NEFH,RFPL1S,RFPL1S,.,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,NEFH,NEFH,LOC107985541,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18734;gnomADv4_1_AC_joint_XX=9181;gnomADv4_1_AC_joint_XY=9553;gnomADv4_1_AF_grpmax_joint=0.167636;gnomADv4_1_AF_joint=0.123117;gnomADv4_1_AF_joint_XX=0.118038;gnomADv4_1_AF_joint_XY=0.128428;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152164;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1587;gnomADv4_1_nhomalt_joint_XX=757;gnomADv4_1_nhomalt_joint_XY=830;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29481576 chr22_29481576_A_G A G 62 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=62;CADD_PHREDscore=9.414;CADD_Rawscore=0.915825;CSQ=G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs165865|3440|-1||HGNC|HGNC:9978|1||||||||Ensembl||A|A||||chr22:g.29481576A>G|||||||||||||,G|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||1/3|ENST00000310624.7:c.883+431A>G|||||||rs165865||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||A|A||1||chr22:g.29481576A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||||||||||rs165865|3506|-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29481576A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||||||||||rs165865|3401|-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29481576A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs165865|463|-1||||5||||||||Ensembl||A|A||||chr22:g.29481576A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs165865|2974|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29481576A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs165865|2696|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29481576A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs165865|3438|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29481576A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||||||||||rs165865|3420|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29481576A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs165865|3442|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29481576A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs165865|2665|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29481576A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs165865|2653|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29481576A>G|||||||||||||,G|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||1/3|NM_021076.4:c.883+431A>G|||||||rs165865||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||A|A||||chr22:g.29481576A>G|||||||||||||,G|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||1/4|XM_011530200.3:c.883+431A>G|||||||rs165865||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||A|A||||chr22:g.29481576A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs165865|3450|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29481576A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FNXH|promoter||||||||||rs165865|||||||||||||||||||||chr22:g.29481576A>G|||||||||||||;SpliceAI=G|NEFH|0.00|0.00|0.00|0.00|-49|39|6|38;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000248980,ENST00000310624,ENST00000419368,ENST00000461286,ENST00000634116,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,NM_021076.4,XM_011530200.3,XR_001755482.2,ENSR22_9FNXH;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000225465,ENSG00000100285,ENSG00000225465,ENSG00000225465,ENSG00000282816,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,4744,4744,107985541,.;VEP_SYMBOL=RFPL1S,NEFH,RFPL1S,RFPL1S,.,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,NEFH,NEFH,LOC107985541,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=139348;gnomADv4_1_AC_joint_XX=71266;gnomADv4_1_AC_joint_XY=68082;gnomADv4_1_AF_grpmax_joint=0.959978;gnomADv4_1_AF_joint=0.915583;gnomADv4_1_AF_joint_XX=0.91611;gnomADv4_1_AF_joint_XY=0.915031;gnomADv4_1_AN_grpmax_joint=41552;gnomADv4_1_AN_joint=152196;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=64055;gnomADv4_1_nhomalt_joint_XX=32768;gnomADv4_1_nhomalt_joint_XY=31287;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29481636 chr22_29481636_A_G A G 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=6.295;CADD_Rawscore=0.583315;CSQ=G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000248980|lncRNA||||||||||rs165821|3500|-1||HGNC|HGNC:9978|1||||||||Ensembl||A|A||||chr22:g.29481636A>G|||||||||||||,G|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||1/3|ENST00000310624.7:c.883+491A>G|||||||rs165821||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||A|A||1||chr22:g.29481636A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000419368|lncRNA||||||||||rs165821|3566|-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29481636A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000461286|lncRNA||||||||||rs165821|3461|-1||HGNC|HGNC:9978|4||||||||Ensembl||A|A||||chr22:g.29481636A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs165821|523|-1||||5||||||||Ensembl||A|A||||chr22:g.29481636A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs165821|3034|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29481636A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs165821|2756|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29481636A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000661328|lncRNA||||||||||rs165821|3498|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29481636A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000669415|lncRNA||||||||||rs165821|3480|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29481636A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752427|lncRNA||||||||||rs165821|3502|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29481636A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs165821|2725|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29481636A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs165821|2713|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29481636A>G|||||||||||||,G|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||1/3|NM_021076.4:c.883+491A>G|||||||rs165821||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||A|A||||chr22:g.29481636A>G|||||||||||||,G|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||1/4|XM_011530200.3:c.883+491A>G|||||||rs165821||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||A|A||||chr22:g.29481636A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|LOC107985541|107985541|Transcript|XR_001755482.2|lncRNA||||||||||rs165821|3510|-1||EntrezGene||||||||||RefSeq||A|A||||chr22:g.29481636A>G|||||||||||||;SpliceAI=G|NEFH|0.00|0.00|0.01|0.00|-21|2|0|-29;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000248980,ENST00000310624,ENST00000419368,ENST00000461286,ENST00000634116,ENST00000657516,ENST00000658349,ENST00000661328,ENST00000669415,ENST00000752427,ENST00000752428,ENST00000752429,NM_021076.4,XM_011530200.3,XR_001755482.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000225465,ENSG00000100285,ENSG00000225465,ENSG00000225465,ENSG00000282816,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,4744,4744,107985541;VEP_SYMBOL=RFPL1S,NEFH,RFPL1S,RFPL1S,.,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,RFPL1S,NEFH,NEFH,LOC107985541;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18631;gnomADv4_1_AC_joint_XX=9136;gnomADv4_1_AC_joint_XY=9495;gnomADv4_1_AF_grpmax_joint=0.167289;gnomADv4_1_AF_joint=0.122447;gnomADv4_1_AF_joint_XX=0.117481;gnomADv4_1_AF_joint_XY=0.127638;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1585;gnomADv4_1_nhomalt_joint_XX=758;gnomADv4_1_nhomalt_joint_XY=827;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29483276 chr22_29483276_C_CA C CA 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADDIndel_PHREDscore=0.965;CADDIndel_Rawscore=-0.026969;CSQ=A|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||1/3|ENST00000310624.7:c.884-84dup|||||||rs144426244||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl|||||1|15|chr22:g.29483291dup|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs144426244|2163|-1||||5||||||||Ensembl|||||||chr22:g.29483291dup|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000657516|lncRNA||||||||||rs144426244|4674|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29483291dup|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs144426244|4396|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29483291dup|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs144426244|4365|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29483291dup|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs144426244|4353|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29483291dup|benign||1||||||||||,A|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||1/3|NM_021076.4:c.884-84dup|||||||rs144426244||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||||||15|chr22:g.29483291dup|benign||1||||||||||,A|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||1/4|XM_011530200.3:c.884-84dup|||||||rs144426244||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||||||15|chr22:g.29483291dup|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29483291dup;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NEFH:4744;ClinVar_Variation_ID=1242753;SpliceAI=CA|NEFH|0.00|0.00|0.00|0.00|49|-25|9|-21;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000310624,ENST00000634116,ENST00000657516,ENST00000658349,ENST00000752428,ENST00000752429,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,ENSG00000282816,ENSG00000225465,ENSG00000225465,ENSG00000225465,ENSG00000225465,4744,4744;VEP_SYMBOL=NEFH,.,RFPL1S,RFPL1S,RFPL1S,RFPL1S,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=234146;gnomADv4_1_AC_joint_XX=115968;gnomADv4_1_AC_joint_XY=118178;gnomADv4_1_AF_grpmax_joint=0.276775;gnomADv4_1_AF_joint=0.259664;gnomADv4_1_AF_joint_XX=0.261454;gnomADv4_1_AF_joint_XY=0.257931;gnomADv4_1_AN_grpmax_joint=622852;gnomADv4_1_AN_joint=901726;gnomADv4_1_AN_joint_XX=443550;gnomADv4_1_AN_joint_XY=458176;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2746;gnomADv4_1_nhomalt_joint_XX=1490;gnomADv4_1_nhomalt_joint_XY=1256;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29483768 chr22_29483768_GA_G GA G 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=33;CADDIndel_PHREDscore=0.047;CADDIndel_Rawscore=-0.81852;CSQ=-|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||2/3|ENST00000310624.7:c.1083+214del|||||||rs361680||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||A|A||1|19|chr22:g.29483788del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs361680|2656|-1||||5||||||||Ensembl||A|A||||chr22:g.29483788del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs361680|4889|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29483788del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs361680|4858|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29483788del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs361680|4846|-1||HGNC|HGNC:9978|||||||||Ensembl||A|A||||chr22:g.29483788del|benign||1||||||||||,-|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||2/3|NM_021076.4:c.1083+214del|||||||rs361680||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||A|A|||19|chr22:g.29483788del|benign||1||||||||||,-|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||2/4|XM_011530200.3:c.1083+214del|||||||rs361680||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||A|A|||19|chr22:g.29483788del|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29483788del;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NEFH:4744;ClinVar_Variation_ID=1229510;SpliceAI=G|NEFH|0.00|0.00|0.00|0.00|-4|34|-40|-44;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000310624,ENST00000634116,ENST00000658349,ENST00000752428,ENST00000752429,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,ENSG00000282816,ENSG00000225465,ENSG00000225465,ENSG00000225465,4744,4744;VEP_SYMBOL=NEFH,.,RFPL1S,RFPL1S,RFPL1S,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14093;gnomADv4_1_AC_joint_XX=7532;gnomADv4_1_AC_joint_XY=6561;gnomADv4_1_AF_grpmax_joint=0.422696;gnomADv4_1_AF_joint=0.248923;gnomADv4_1_AF_joint_XX=0.245935;gnomADv4_1_AF_joint_XY=0.252443;gnomADv4_1_AN_grpmax_joint=2018;gnomADv4_1_AN_joint=56616;gnomADv4_1_AN_joint_XX=30626;gnomADv4_1_AN_joint_XY=25990;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=952;gnomADv4_1_nhomalt_joint_XX=495;gnomADv4_1_nhomalt_joint_XY=457;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29483827 chr22_29483827_TTTTATTTA_T;chr22_29483827_T_TTTTA TTTTATTTA T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=1.099;CADDIndel_Rawscore=0.006718;CSQ=-|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||2/3|ENST00000310624.7:c.1083+285_1083+292del|||||||rs140814097||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||TTTATTTA|TTTATTTA||1|31|chr22:g.29483859_29483866del|||1||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs140814097|2715|-1||||5||||||||Ensembl||TTTATTTA|TTTATTTA||||chr22:g.29483859_29483866del|||1||||||||||,-|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs140814097|4948|-1||HGNC|HGNC:9978|||||||||Ensembl||TTTATTTA|TTTATTTA||||chr22:g.29483859_29483866del|||1||||||||||,-|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs140814097|4917|-1||HGNC|HGNC:9978|||||||||Ensembl||TTTATTTA|TTTATTTA||||chr22:g.29483859_29483866del|||1||||||||||,-|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs140814097|4905|-1||HGNC|HGNC:9978|||||||||Ensembl||TTTATTTA|TTTATTTA||||chr22:g.29483859_29483866del|||1||||||||||,-|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||2/3|NM_021076.4:c.1083+285_1083+292del|||||||rs140814097||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||TTTATTTA|TTTATTTA|||31|chr22:g.29483859_29483866del|||1||||||||||,-|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||2/4|XM_011530200.3:c.1083+285_1083+292del|||||||rs140814097||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||TTTATTTA|TTTATTTA|||31|chr22:g.29483859_29483866del|||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29483831ATTT[7];ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NEFH:4744;ClinVar_Variation_ID=1267655;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000310624,ENST00000634116,ENST00000658349,ENST00000752428,ENST00000752429,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,ENSG00000282816,ENSG00000225465,ENSG00000225465,ENSG00000225465,4744,4744;VEP_SYMBOL=NEFH,.,RFPL1S,RFPL1S,RFPL1S,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33857;gnomADv4_1_AC_joint_XX=17115;gnomADv4_1_AC_joint_XY=16742;gnomADv4_1_AF_grpmax_joint=0.446369;gnomADv4_1_AF_joint=0.248328;gnomADv4_1_AF_joint_XX=0.239672;gnomADv4_1_AF_joint_XY=0.257847;gnomADv4_1_AN_grpmax_joint=4214;gnomADv4_1_AN_joint=136340;gnomADv4_1_AN_joint_XX=71410;gnomADv4_1_AN_joint_XY=64930;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4881;gnomADv4_1_nhomalt_joint_XX=2399;gnomADv4_1_nhomalt_joint_XY=2482;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29483827 chr22_29483827_TTTTATTTA_T;chr22_29483827_T_TTTTA T TTTTA 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=1.394;CADDIndel_Rawscore=0.068858;CSQ=TTTA|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||2/3|ENST00000310624.7:c.1083+289_1083+292dup|||||||rs140814097||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl|||||1|39|chr22:g.29483863_29483866dup|||1||||||||||,TTTA|upstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs140814097|2714|-1||||5||||||||Ensembl|||||||chr22:g.29483863_29483866dup|||1||||||||||,TTTA|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000658349|lncRNA||||||||||rs140814097|4947|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29483863_29483866dup|||1||||||||||,TTTA|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752428|lncRNA||||||||||rs140814097|4916|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29483863_29483866dup|||1||||||||||,TTTA|upstream_gene_variant|MODIFIER|RFPL1S|ENSG00000225465|Transcript|ENST00000752429|lncRNA||||||||||rs140814097|4904|-1||HGNC|HGNC:9978|||||||||Ensembl|||||||chr22:g.29483863_29483866dup|||1||||||||||,TTTA|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||2/3|NM_021076.4:c.1083+289_1083+292dup|||||||rs140814097||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||||||39|chr22:g.29483863_29483866dup|||1||||||||||,TTTA|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||2/4|XM_011530200.3:c.1083+289_1083+292dup|||||||rs140814097||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||||||39|chr22:g.29483863_29483866dup|||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29483831ATTT[10];ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NEFH:4744;ClinVar_Variation_ID=1273295;TYPE=INDEL;VEP_Allele=TTTA,TTTA,TTTA,TTTA,TTTA,TTTA,TTTA;VEP_Feature=ENST00000310624,ENST00000634116,ENST00000658349,ENST00000752428,ENST00000752429,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,ENSG00000282816,ENSG00000225465,ENSG00000225465,ENSG00000225465,4744,4744;VEP_SYMBOL=NEFH,.,RFPL1S,RFPL1S,RFPL1S,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30590;gnomADv4_1_AC_joint_XX=16002;gnomADv4_1_AC_joint_XY=14588;gnomADv4_1_AF_grpmax_joint=0.405797;gnomADv4_1_AF_joint=0.224497;gnomADv4_1_AF_joint_XX=0.224199;gnomADv4_1_AF_joint_XY=0.224825;gnomADv4_1_AN_grpmax_joint=276;gnomADv4_1_AN_joint=136260;gnomADv4_1_AN_joint_XX=71374;gnomADv4_1_AN_joint_XY=64886;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3719;gnomADv4_1_nhomalt_joint_XX=1952;gnomADv4_1_nhomalt_joint_XY=1767;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29484060 chr22_29484060_G_A G A 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.598;CADD_Rawscore=-0.148298;CSQ=A|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||2/3|ENST00000310624.7:c.1083+486G>A|||||||rs8136014||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||G|G||1||chr22:g.29484060G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs8136014|2947|-1||||5||||||||Ensembl||G|G||||chr22:g.29484060G>A|||||||||||||,A|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||2/3|NM_021076.4:c.1083+486G>A|||||||rs8136014||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||G|G||||chr22:g.29484060G>A|||||||||||||,A|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||2/4|XM_011530200.3:c.1083+486G>A|||||||rs8136014||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||G|G||||chr22:g.29484060G>A|||||||||||||;SpliceAI=A|NEFH|0.00|0.00|0.00|0.00|-28|1|-28|0;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000310624,ENST00000634116,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,ENSG00000282816,4744,4744;VEP_SYMBOL=NEFH,.,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=38697;gnomADv4_1_AC_joint_XX=19681;gnomADv4_1_AC_joint_XY=19016;gnomADv4_1_AF_grpmax_joint=0.37415;gnomADv4_1_AF_joint=0.254901;gnomADv4_1_AF_joint_XX=0.253419;gnomADv4_1_AF_joint_XY=0.256453;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151812;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74150;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5983;gnomADv4_1_nhomalt_joint_XX=3019;gnomADv4_1_nhomalt_joint_XY=2964;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29484784 chr22_29484784_A_G A G 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=4.171;CADD_Rawscore=0.380447;CSQ=G|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||2/3|ENST00000310624.7:c.1084-939A>G|||||||rs165633||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||A|A||1||chr22:g.29484784A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs165633|3671|-1||||5||||||||Ensembl||A|A||||chr22:g.29484784A>G|||1||||||||||,G|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||2/3|NM_021076.4:c.1084-939A>G|||||||rs165633||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||A|A||||chr22:g.29484784A>G|||1||||||||||,G|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||2/4|XM_011530200.3:c.1084-939A>G|||||||rs165633||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||A|A||||chr22:g.29484784A>G|||1||||||||||;SpliceAI=G|NEFH|0.00|0.00|0.00|0.00|26|29|26|-9;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000310624,ENST00000634116,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,ENSG00000282816,4744,4744;VEP_SYMBOL=NEFH,.,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=28129;gnomADv4_1_AC_joint_XX=13821;gnomADv4_1_AC_joint_XY=14308;gnomADv4_1_AF_grpmax_joint=0.245939;gnomADv4_1_AF_joint=0.185264;gnomADv4_1_AF_joint_XX=0.178032;gnomADv4_1_AF_joint_XY=0.19283;gnomADv4_1_AN_grpmax_joint=4802;gnomADv4_1_AN_joint=151832;gnomADv4_1_AN_joint_XX=77632;gnomADv4_1_AN_joint_XY=74200;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3442;gnomADv4_1_nhomalt_joint_XX=1628;gnomADv4_1_nhomalt_joint_XY=1814;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29484925 chr22_29484925_T_C T C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.298;CADD_Rawscore=0.050148;CSQ=C|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||2/3|ENST00000310624.7:c.1084-798T>C|||||||rs5763264||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||T|T||1||chr22:g.29484925T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs5763264|3812|-1||||5||||||||Ensembl||T|T||||chr22:g.29484925T>C|||||||||||||,C|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||2/3|NM_021076.4:c.1084-798T>C|||||||rs5763264||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||T|T||||chr22:g.29484925T>C|||||||||||||,C|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||2/4|XM_011530200.3:c.1084-798T>C|||||||rs5763264||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||T|T||||chr22:g.29484925T>C|||||||||||||;SpliceAI=C|NEFH|0.00|0.00|0.00|0.00|-40|41|-40|10;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000310624,ENST00000634116,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,ENSG00000282816,4744,4744;VEP_SYMBOL=NEFH,.,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=108929;gnomADv4_1_AC_joint_XX=55689;gnomADv4_1_AC_joint_XY=53240;gnomADv4_1_AF_grpmax_joint=0.874708;gnomADv4_1_AF_joint=0.717365;gnomADv4_1_AF_joint_XX=0.71742;gnomADv4_1_AF_joint_XY=0.717308;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151846;gnomADv4_1_AN_joint_XX=77624;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=40009;gnomADv4_1_nhomalt_joint_XX=20458;gnomADv4_1_nhomalt_joint_XY=19551;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29485225 chr22_29485225_C_T C T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.896;CADD_Rawscore=0.149799;CSQ=T|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||2/3|ENST00000310624.7:c.1084-498C>T|||||||rs2240635||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||C|C||1||chr22:g.29485225C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs2240635|4112|-1||||5||||||||Ensembl||C|C||||chr22:g.29485225C>T|||||||||||||,T|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||2/3|NM_021076.4:c.1084-498C>T|||||||rs2240635||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||C|C||||chr22:g.29485225C>T|||||||||||||,T|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||2/4|XM_011530200.3:c.1084-498C>T|||||||rs2240635||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||C|C||||chr22:g.29485225C>T|||||||||||||;SpliceAI=T|NEFH|0.00|0.00|0.01|0.00|20|-50|20|5;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000310624,ENST00000634116,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,ENSG00000282816,4744,4744;VEP_SYMBOL=NEFH,.,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=101641;gnomADv4_1_AC_joint_XX=51927;gnomADv4_1_AC_joint_XY=49714;gnomADv4_1_AF_grpmax_joint=0.863302;gnomADv4_1_AF_joint=0.668805;gnomADv4_1_AF_joint_XX=0.668146;gnomADv4_1_AF_joint_XY=0.669495;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=151974;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34266;gnomADv4_1_nhomalt_joint_XX=17507;gnomADv4_1_nhomalt_joint_XY=16759;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29485264 chr22_29485264_C_G C G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.588;CADD_Rawscore=-0.152503;CSQ=G|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||2/3|ENST00000310624.7:c.1084-459C>G|||||||rs2240636||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||C|C||1||chr22:g.29485264C>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs2240636|4151|-1||||5||||||||Ensembl||C|C||||chr22:g.29485264C>G|||||||||||||,G|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||2/3|NM_021076.4:c.1084-459C>G|||||||rs2240636||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||C|C||||chr22:g.29485264C>G|||||||||||||,G|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||2/4|XM_011530200.3:c.1084-459C>G|||||||rs2240636||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||C|C||||chr22:g.29485264C>G|||||||||||||;SpliceAI=G|NEFH|0.00|0.00|0.00|0.00|30|-42|-7|-19;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000310624,ENST00000634116,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,ENSG00000282816,4744,4744;VEP_SYMBOL=NEFH,.,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=102234;gnomADv4_1_AC_joint_XX=52162;gnomADv4_1_AC_joint_XY=50072;gnomADv4_1_AF_grpmax_joint=0.866783;gnomADv4_1_AF_joint=0.672698;gnomADv4_1_AF_joint_XX=0.671377;gnomADv4_1_AF_joint_XY=0.67408;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=151976;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34831;gnomADv4_1_nhomalt_joint_XX=17735;gnomADv4_1_nhomalt_joint_XY=17096;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29485479 chr22_29485479_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=4.81;CADD_Rawscore=0.438157;CSQ=A|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||2/3|ENST00000310624.7:c.1084-244G>A|||||||rs3815335||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||G|G||1||chr22:g.29485479G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs3815335|4366|-1||||5||||||||Ensembl||G|G||||chr22:g.29485479G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||2/3|NM_021076.4:c.1084-244G>A|||||||rs3815335||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||G|G||||chr22:g.29485479G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||2/4|XM_011530200.3:c.1084-244G>A|||||||rs3815335||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||G|G||||chr22:g.29485479G>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29485479G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NEFH:4744;ClinVar_Variation_ID=1295335;SpliceAI=A|NEFH|0.02|0.00|0.00|0.00|27|-20|43|-1;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000310624,ENST00000634116,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,ENSG00000282816,4744,4744;VEP_SYMBOL=NEFH,.,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=49929;gnomADv4_1_AC_joint_XX=26020;gnomADv4_1_AC_joint_XY=23909;gnomADv4_1_AF_grpmax_joint=0.412573;gnomADv4_1_AF_joint=0.328273;gnomADv4_1_AF_joint_XX=0.334619;gnomADv4_1_AF_joint_XY=0.321634;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8402;gnomADv4_1_nhomalt_joint_XX=4392;gnomADv4_1_nhomalt_joint_XY=4010;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29485839 chr22_29485839_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=2.294;CADD_Rawscore=0.200507;CSQ=T|synonymous_variant|LOW|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding|3/4||ENST00000310624.7%3Ac.1200C>T|ENSP00000311997.6%3Ap.Ala400%3D|1245|1200|400|A|gcC/gcT|rs165734||1||HGNC|HGNC%3A7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||C|C||1||chr22%3Ag.29485839C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs165734|4726|-1||||5||||||||Ensembl||C|C||||chr22:g.29485839C>T|benign||1||||||||||,T|synonymous_variant|LOW|NEFH|4744|Transcript|NM_021076.4|protein_coding|3/4||NM_021076.4%3Ac.1200C>T|NP_066554.2%3Ap.Ala400%3D|1245|1200|400|A|gcC/gcT|rs165734||1||EntrezGene|HGNC%3A7737|||NP_066554.2||||||RefSeq||C|C||||chr22%3Ag.29485839C>T|benign||1||||||||||,T|synonymous_variant|LOW|NEFH|4744|Transcript|XM_011530200.3|protein_coding|3/5||XM_011530200.3%3Ac.1200C>T|XP_011528502.1%3Ap.Ala400%3D|1245|1200|400|A|gcC/gcT|rs165734||1||EntrezGene|HGNC%3A7737|||XP_011528502.1||||||RefSeq||C|C||||chr22%3Ag.29485839C>T|benign||1||||||||||;ClinVar_CLNDN=not_specified|Charcot-Marie-Tooth_disease_axonal_type_2CC|Amyotrophic_lateral_sclerosis_type_1|not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29485839C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NEFH:4744;ClinVar_Variation_ID=522275;SpliceAI=T|NEFH|0.00|0.00|0.00|0.00|-21|-23|8|34;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000310624,ENST00000634116,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,ENSG00000282816,4744,4744;VEP_SYMBOL=NEFH,.,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=244016;gnomADv4_1_AC_joint_XX=121679;gnomADv4_1_AC_joint_XY=122337;gnomADv4_1_AF_grpmax_joint=0.177636;gnomADv4_1_AF_joint=0.151224;gnomADv4_1_AF_joint_XX=0.14982;gnomADv4_1_AF_joint_XY=0.152647;gnomADv4_1_AN_grpmax_joint=91074;gnomADv4_1_AN_joint=1613604;gnomADv4_1_AN_joint_XX=812166;gnomADv4_1_AN_joint_XY=801438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=19934;gnomADv4_1_nhomalt_joint_XX=9867;gnomADv4_1_nhomalt_joint_XY=10067;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29485895 chr22_29485895_G_A G A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.071;CADD_Rawscore=1.4e-05;CSQ=A|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||3/3|ENST00000310624.7:c.1208+48G>A|||||||rs4823040||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||G|G||1||chr22:g.29485895G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000282816|Transcript|ENST00000634116|lncRNA||||||||||rs4823040|4782|-1||||5||||||||Ensembl||G|G||||chr22:g.29485895G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||3/3|NM_021076.4:c.1208+48G>A|||||||rs4823040||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||G|G||||chr22:g.29485895G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||3/4|XM_011530200.3:c.1208+48G>A|||||||rs4823040||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||G|G||||chr22:g.29485895G>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29485895G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NEFH:4744;ClinVar_Variation_ID=1295334;SpliceAI=A|NEFH|0.00|0.00|0.00|0.00|2|42|-48|-44;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000310624,ENST00000634116,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,ENSG00000282816,4744,4744;VEP_SYMBOL=NEFH,.,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=1542669;gnomADv4_1_AC_joint_XX=775843;gnomADv4_1_AC_joint_XY=766826;gnomADv4_1_AF_grpmax_joint=0.999955;gnomADv4_1_AF_joint=0.956874;gnomADv4_1_AF_joint_XX=0.95628;gnomADv4_1_AF_joint_XY=0.957477;gnomADv4_1_AN_grpmax_joint=44886;gnomADv4_1_AN_joint=1612196;gnomADv4_1_AN_joint_XX=811314;gnomADv4_1_AN_joint_XY=800882;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=738316;gnomADv4_1_nhomalt_joint_XX=371072;gnomADv4_1_nhomalt_joint_XY=367244;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29486191 chr22_29486191_A_AT A AT 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=1.353;CADDIndel_Rawscore=0.06103;CSQ=T|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||3/3|ENST00000310624.7:c.1208+357dup|||||||rs138706088||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl|||||1|13|chr22:g.29486204dup|||||||||||||,T|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||3/3|NM_021076.4:c.1208+357dup|||||||rs138706088||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||||||13|chr22:g.29486204dup|||||||||||||,T|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||3/4|XM_011530200.3:c.1208+357dup|||||||rs138706088||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||||||13|chr22:g.29486204dup|||||||||||||;SpliceAI=AT|NEFH|0.00|0.00|0.00|0.00|16|19|10|-46;TYPE=INDEL;VEP_Allele=T,T,T;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=20453;gnomADv4_1_AC_joint_XX=10183;gnomADv4_1_AC_joint_XY=10270;gnomADv4_1_AF_grpmax_joint=0.173225;gnomADv4_1_AF_joint=0.144299;gnomADv4_1_AF_joint_XX=0.13957;gnomADv4_1_AF_joint_XY=0.149317;gnomADv4_1_AN_grpmax_joint=4422;gnomADv4_1_AN_joint=141740;gnomADv4_1_AN_joint_XX=72960;gnomADv4_1_AN_joint_XY=68780;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1546;gnomADv4_1_nhomalt_joint_XX=733;gnomADv4_1_nhomalt_joint_XY=813;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29486519 chr22_29486519_CTT_C;chr22_29486519_CT_C CTT C 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=35;CADDIndel_PHREDscore=0.959;CADDIndel_Rawscore=-0.028536;CSQ=-|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||3/3|ENST00000310624.7:c.1208+692_1208+693del|||||||rs362163||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||TT|TT||1|19|chr22:g.29486539_29486540del|||||||||||||,-|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||3/3|NM_021076.4:c.1208+692_1208+693del|||||||rs362163||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||TT|TT|||19|chr22:g.29486539_29486540del|||||||||||||,-|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||3/4|XM_011530200.3:c.1208+692_1208+693del|||||||rs362163||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||TT|TT|||19|chr22:g.29486539_29486540del|||||||||||||;SpliceAI=C|NEFH|0.00|0.00|0.00|0.00|25|-38|25|-5;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=11478;gnomADv4_1_AC_joint_XX=6207;gnomADv4_1_AC_joint_XY=5271;gnomADv4_1_AF_grpmax_joint=0.139972;gnomADv4_1_AF_joint=0.112616;gnomADv4_1_AF_joint_XX=0.112793;gnomADv4_1_AF_joint_XY=0.112407;gnomADv4_1_AN_grpmax_joint=2822;gnomADv4_1_AN_joint=101922;gnomADv4_1_AN_joint_XX=55030;gnomADv4_1_AN_joint_XY=46892;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=205;gnomADv4_1_nhomalt_joint_XX=101;gnomADv4_1_nhomalt_joint_XY=104;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29486519 chr22_29486519_CTT_C;chr22_29486519_CT_C CT C 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=26;CADDIndel_PHREDscore=0.062;CADDIndel_Rawscore=-0.739713;CSQ=-|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||3/3|ENST00000310624.7:c.1208+693del|||||||rs362163||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||T|T||1|20|chr22:g.29486540del|||||||||||||,-|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||3/3|NM_021076.4:c.1208+693del|||||||rs362163||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||T|T|||20|chr22:g.29486540del|||||||||||||,-|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||3/4|XM_011530200.3:c.1208+693del|||||||rs362163||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||T|T|||20|chr22:g.29486540del|||||||||||||;SpliceAI=C|NEFH|0.00|0.00|0.00|0.00|49|25|25|-5;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=21575;gnomADv4_1_AC_joint_XX=11981;gnomADv4_1_AC_joint_XY=9594;gnomADv4_1_AF_grpmax_joint=0.301105;gnomADv4_1_AF_joint=0.210722;gnomADv4_1_AF_joint_XX=0.216561;gnomADv4_1_AF_joint_XY=0.203859;gnomADv4_1_AN_grpmax_joint=3258;gnomADv4_1_AN_joint=102386;gnomADv4_1_AN_joint_XX=55324;gnomADv4_1_AN_joint_XY=47062;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=620;gnomADv4_1_nhomalt_joint_XX=315;gnomADv4_1_nhomalt_joint_XY=305;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29486984 chr22_29486984_C_T C T 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=8.959;CADD_Rawscore=0.869639;CSQ=T|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||3/3|ENST00000310624.7:c.1208+1137C>T|||||||rs165899||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||C|C||1||chr22:g.29486984C>T|||||||||||||,T|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||3/3|NM_021076.4:c.1208+1137C>T|||||||rs165899||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||C|C||||chr22:g.29486984C>T|||||||||||||,T|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||3/4|XM_011530200.3:c.1208+1137C>T|||||||rs165899||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||C|C||||chr22:g.29486984C>T|||||||||||||;SpliceAI=T|NEFH|0.00|0.00|0.00|0.00|-43|-12|-43|1;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=18432;gnomADv4_1_AC_joint_XX=9039;gnomADv4_1_AC_joint_XY=9393;gnomADv4_1_AF_grpmax_joint=0.171778;gnomADv4_1_AF_joint=0.121088;gnomADv4_1_AF_joint_XX=0.116147;gnomADv4_1_AF_joint_XY=0.126257;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152220;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1524;gnomADv4_1_nhomalt_joint_XX=727;gnomADv4_1_nhomalt_joint_XY=797;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29487130 chr22_29487130_TAGTC_T TAGTC T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=2.347;CADDIndel_Rawscore=0.206591;CSQ=-|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||3/3|ENST00000310624.7:c.1208+1287_1208+1290del|||||||rs362061||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||AGTC|AGTC||1|3|chr22:g.29487134_29487137del|||||||||||||,-|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||3/3|NM_021076.4:c.1208+1287_1208+1290del|||||||rs362061||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||AGTC|AGTC|||3|chr22:g.29487134_29487137del|||||||||||||,-|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||3/4|XM_011530200.3:c.1208+1287_1208+1290del|||||||rs362061||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||AGTC|AGTC|||3|chr22:g.29487134_29487137del|||||||||||||;SpliceAI=T|NEFH|0.00|0.00|0.00|0.00|-31|-8|-35|-31;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=23192;gnomADv4_1_AC_joint_XX=11554;gnomADv4_1_AC_joint_XY=11638;gnomADv4_1_AF_grpmax_joint=0.173651;gnomADv4_1_AF_joint=0.152563;gnomADv4_1_AF_joint_XX=0.148647;gnomADv4_1_AF_joint_XY=0.156661;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152016;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1901;gnomADv4_1_nhomalt_joint_XX=916;gnomADv4_1_nhomalt_joint_XY=985;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29487469 chr22_29487469_C_CA C CA 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.457;CADDIndel_Rawscore=-0.215891;CSQ=A|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||3/3|ENST00000310624.7:c.1209-1366dup|||||||rs60393645||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl|||||1|14|chr22:g.29487483dup|||||||||||||,A|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||3/3|NM_021076.4:c.1209-1366dup|||||||rs60393645||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||||||14|chr22:g.29487483dup|||||||||||||,A|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||3/4|XM_011530200.3:c.1209-1366dup|||||||rs60393645||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||||||14|chr22:g.29487483dup|||||||||||||;SpliceAI=CA|NEFH|0.00|0.00|0.00|0.00|18|44|-27|26;TYPE=INDEL;VEP_Allele=A,A,A;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=45631;gnomADv4_1_AC_joint_XX=23606;gnomADv4_1_AC_joint_XY=22025;gnomADv4_1_AF_grpmax_joint=0.501422;gnomADv4_1_AF_joint=0.326823;gnomADv4_1_AF_joint_XX=0.326899;gnomADv4_1_AF_joint_XY=0.326742;gnomADv4_1_AN_grpmax_joint=38690;gnomADv4_1_AN_joint=139620;gnomADv4_1_AN_joint_XX=72212;gnomADv4_1_AN_joint_XY=67408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7933;gnomADv4_1_nhomalt_joint_XX=4127;gnomADv4_1_nhomalt_joint_XY=3806;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29487779 chr22_29487779_CACTT_C CACTT C 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.871;CADDIndel_Rawscore=-0.0534;CSQ=-|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||3/3|ENST00000310624.7:c.1209-1066_1209-1063del|||||||rs362231||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||ACTT|ACTT||1|3|chr22:g.29487783_29487786del|||||||||||||,-|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||3/3|NM_021076.4:c.1209-1066_1209-1063del|||||||rs362231||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||ACTT|ACTT|||3|chr22:g.29487783_29487786del|||||||||||||,-|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||3/4|XM_011530200.3:c.1209-1066_1209-1063del|||||||rs362231||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||ACTT|ACTT|||3|chr22:g.29487783_29487786del|||||||||||||;SpliceAI=C|NEFH|0.00|0.00|0.00|0.00|-18|18|-26|-11;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=23232;gnomADv4_1_AC_joint_XX=11577;gnomADv4_1_AC_joint_XY=11655;gnomADv4_1_AF_grpmax_joint=0.173571;gnomADv4_1_AF_joint=0.152651;gnomADv4_1_AF_joint_XX=0.148797;gnomADv4_1_AF_joint_XY=0.156683;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152190;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1911;gnomADv4_1_nhomalt_joint_XX=924;gnomADv4_1_nhomalt_joint_XY=987;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29487903 chr22_29487903_G_T G T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.161;CADD_Rawscore=0.020953;CSQ=T|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||3/3|ENST00000310624.7:c.1209-946G>T|||||||rs174650||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||G|G||1||chr22:g.29487903G>T|||||||||||||,T|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||3/3|NM_021076.4:c.1209-946G>T|||||||rs174650||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||G|G||||chr22:g.29487903G>T|||||||||||||,T|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||3/4|XM_011530200.3:c.1209-946G>T|||||||rs174650||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||G|G||||chr22:g.29487903G>T|||||||||||||;SpliceAI=T|NEFH|0.01|0.00|0.00|0.00|17|-25|17|0;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=122673;gnomADv4_1_AC_joint_XX=62329;gnomADv4_1_AC_joint_XY=60344;gnomADv4_1_AF_grpmax_joint=0.917763;gnomADv4_1_AF_joint=0.806454;gnomADv4_1_AF_joint_XX=0.801412;gnomADv4_1_AF_joint_XY=0.81173;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=49615;gnomADv4_1_nhomalt_joint_XX=25048;gnomADv4_1_nhomalt_joint_XY=24567;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29488288 chr22_29488288_T_C T C 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.237;CADD_Rawscore=-0.382676;CSQ=C|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||3/3|ENST00000310624.7:c.1209-561T>C|||||||rs165743||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||T|T||1||chr22:g.29488288T>C|||||||||||||,C|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||3/3|NM_021076.4:c.1209-561T>C|||||||rs165743||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||T|T||||chr22:g.29488288T>C|||||||||||||,C|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||3/4|XM_011530200.3:c.1209-561T>C|||||||rs165743||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||T|T||||chr22:g.29488288T>C|||||||||||||;SpliceAI=C|NEFH|0.00|0.00|0.00|0.00|-37|29|49|-31;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=121566;gnomADv4_1_AC_joint_XX=61743;gnomADv4_1_AC_joint_XY=59823;gnomADv4_1_AF_grpmax_joint=0.91699;gnomADv4_1_AF_joint=0.799745;gnomADv4_1_AF_joint_XX=0.794674;gnomADv4_1_AF_joint_XY=0.805046;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=48744;gnomADv4_1_nhomalt_joint_XX=24592;gnomADv4_1_nhomalt_joint_XY=24152;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29488391 chr22_29488391_G_GA G GA 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.233;CADDIndel_Rawscore=-0.387007;CSQ=A|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||3/3|ENST00000310624.7:c.1209-448dup|||||||rs67015509||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl|||||1|10|chr22:g.29488401dup|||||||||||||,A|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||3/3|NM_021076.4:c.1209-448dup|||||||rs67015509||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||||||10|chr22:g.29488401dup|||||||||||||,A|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||3/4|XM_011530200.3:c.1209-448dup|||||||rs67015509||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||||||10|chr22:g.29488401dup|||||||||||||;SpliceAI=GA|NEFH|0.00|0.00|0.00|0.00|0|37|10|-32;TYPE=INDEL;VEP_Allele=A,A,A;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=30970;gnomADv4_1_AC_joint_XX=16515;gnomADv4_1_AC_joint_XY=14455;gnomADv4_1_AF_grpmax_joint=0.304505;gnomADv4_1_AF_joint=0.208648;gnomADv4_1_AF_joint_XX=0.216903;gnomADv4_1_AF_joint_XY=0.199953;gnomADv4_1_AN_grpmax_joint=67076;gnomADv4_1_AN_joint=148432;gnomADv4_1_AN_joint_XX=76140;gnomADv4_1_AN_joint_XY=72292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3845;gnomADv4_1_nhomalt_joint_XX=2090;gnomADv4_1_nhomalt_joint_XY=1755;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29488578 chr22_29488578_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.604;CADD_Rawscore=-0.146042;CSQ=T|intron_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||3/3|ENST00000310624.7:c.1209-271C>T|||||||rs165624||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||C|C||1||chr22:g.29488578C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||3/3|NM_021076.4:c.1209-271C>T|||||||rs165624||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||C|C||||chr22:g.29488578C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||3/4|XM_011530200.3:c.1209-271C>T|||||||rs165624||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||C|C||||chr22:g.29488578C>T|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29488578C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NEFH:4744;ClinVar_Variation_ID=1269918;SpliceAI=T|NEFH|0.00|0.00|0.00|0.00|9|-31|-2|21;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=23266;gnomADv4_1_AC_joint_XX=11577;gnomADv4_1_AC_joint_XY=11689;gnomADv4_1_AF_grpmax_joint=0.172837;gnomADv4_1_AF_joint=0.153106;gnomADv4_1_AF_joint_XX=0.149031;gnomADv4_1_AF_joint_XY=0.157368;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=151960;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1939;gnomADv4_1_nhomalt_joint_XX=929;gnomADv4_1_nhomalt_joint_XY=1010;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29489484 chr22_29489484_C_T C T 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=18.24;CADD_Rawscore=2.32695;CSQ=T|missense_variant|MODERATE|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding|4/4||ENST00000310624.7:c.1844C>T|ENSP00000311997.6:p.Pro615Leu|1889|1844|615|P/L|cCg/cTg|rs5763269||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||C|C||1||chr22:g.29489484C>T|benign||1||||||||||,T|missense_variant|MODERATE|NEFH|4744|Transcript|NM_021076.4|protein_coding|4/4||NM_021076.4:c.1844C>T|NP_066554.2:p.Pro615Leu|1889|1844|615|P/L|cCg/cTg|rs5763269||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||C|C||||chr22:g.29489484C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||4/4|XM_011530200.3:c.1653-97C>T|||||||rs5763269||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||C|C||||chr22:g.29489484C>T|benign||1||||||||||;ClinVar_CLNDN=Amyotrophic_lateral_sclerosis_type_1|Charcot-Marie-Tooth_disease_axonal_type_2CC|not_specified|not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29489484C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NEFH:4744;ClinVar_Variation_ID=66733;REVEL_score=0.357;SpliceAI=T|NEFH|0.00|0.00|0.00|0.00|21|45|-6|49;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=327523;gnomADv4_1_AC_joint_XX=166756;gnomADv4_1_AC_joint_XY=160767;gnomADv4_1_AF_grpmax_joint=0.23235;gnomADv4_1_AF_joint=0.203772;gnomADv4_1_AF_joint_XX=0.206155;gnomADv4_1_AF_joint_XY=0.201358;gnomADv4_1_AN_grpmax_joint=6034;gnomADv4_1_AN_joint=1607302;gnomADv4_1_AN_joint_XX=808888;gnomADv4_1_AN_joint_XY=798414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=34798;gnomADv4_1_nhomalt_joint_XX=17887;gnomADv4_1_nhomalt_joint_XY=16911;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29489578 chr22_29489578_A_AAAGTCCCCTGAGAAGGCC A AAAGTCCCCTGAGAAGGCC 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=18;CADDIndel_PHREDscore=5.915;CADDIndel_Rawscore=0.544636;CSQ=AAGTCCCCTGAGAAGGCC|inframe_insertion|MODERATE|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding|4/4||ENST00000310624.7:c.1947_1964dup|ENSP00000311997.6:p.Ala652_Lys657dup|1983-1984|1938-1939|646-647|-/KSPEKA|-/AAGTCCCCTGAGAAGGCC|rs147489453||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl|||||1|26|chr22:g.29489587_29489604dup|benign||1||||||||||,AAGTCCCCTGAGAAGGCC|inframe_insertion|MODERATE|NEFH|4744|Transcript|NM_021076.4|protein_coding|4/4||NM_021076.4:c.1947_1964dup|NP_066554.2:p.Ala652_Lys657dup|1983-1984|1938-1939|646-647|-/KSPEKA|-/AAGTCCCCTGAGAAGGCC|rs147489453||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||||||26|chr22:g.29489587_29489604dup|benign||1||||||||||,AAGTCCCCTGAGAAGGCC|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant|LOW|NEFH|4744|Transcript|XM_011530200.3|protein_coding||4/4|XM_011530200.3:c.1659_1676dup|||||||rs147489453||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||||||26|chr22:g.29489587_29489604dup|benign||1||||||||||;ClinVar_CLNDN=not_specified|not_provided|Amyotrophic_lateral_sclerosis_type_1;ClinVar_CLNHGVS=NC_000022.11:g.29489587_29489604dup;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NEFH:4744;ClinVar_Variation_ID=522277;TYPE=INDEL;VEP_Allele=AAGTCCCCTGAGAAGGCC,AAGTCCCCTGAGAAGGCC,AAGTCCCCTGAGAAGGCC;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=323415;gnomADv4_1_AC_joint_XX=154174;gnomADv4_1_AC_joint_XY=169241;gnomADv4_1_AF_grpmax_joint=0.830637;gnomADv4_1_AF_joint=0.485317;gnomADv4_1_AF_joint_XX=0.474677;gnomADv4_1_AF_joint_XY=0.495433;gnomADv4_1_AN_grpmax_joint=29422;gnomADv4_1_AN_joint=666400;gnomADv4_1_AN_joint_XX=324798;gnomADv4_1_AN_joint_XY=341602;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=105214;gnomADv4_1_nhomalt_joint_XX=50076;gnomADv4_1_nhomalt_joint_XY=55138;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29489872 chr22_29489872_T_C T C 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.089;CADD_Rawscore=-0.64243;CSQ=C|synonymous_variant|LOW|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding|4/4||ENST00000310624.7%3Ac.2232T>C|ENSP00000311997.6%3Ap.Ala744%3D|2277|2232|744|A|gcT/gcC|rs165923||1||HGNC|HGNC%3A7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||T|T||1||chr22%3Ag.29489872T>C|benign||1||||||||||,C|synonymous_variant|LOW|NEFH|4744|Transcript|NM_021076.4|protein_coding|4/4||NM_021076.4%3Ac.2232T>C|NP_066554.2%3Ap.Ala744%3D|2277|2232|744|A|gcT/gcC|rs165923||1||EntrezGene|HGNC%3A7737|||NP_066554.2||||||RefSeq||T|T||||chr22%3Ag.29489872T>C|benign||1||||||||||,C|synonymous_variant|LOW|NEFH|4744|Transcript|XM_011530200.3|protein_coding|5/5||XM_011530200.3%3Ac.1944T>C|XP_011528502.1%3Ap.Ala648%3D|1989|1944|648|A|gcT/gcC|rs165923||1||EntrezGene|HGNC%3A7737|||XP_011528502.1||||||RefSeq||T|T||||chr22%3Ag.29489872T>C|benign||1||||||||||;ClinVar_CLNDN=not_provided|Charcot-Marie-Tooth_disease_axonal_type_2CC|Amyotrophic_lateral_sclerosis_type_1|not_specified;ClinVar_CLNHGVS=NC_000022.11:g.29489872T>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NEFH:4744;ClinVar_Variation_ID=522183;SpliceAI=C|NEFH|0.00|0.00|0.00|0.00|-13|-43|48|-3;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=1266039;gnomADv4_1_AC_joint_XX=635068;gnomADv4_1_AC_joint_XY=630971;gnomADv4_1_AF_grpmax_joint=0.855262;gnomADv4_1_AF_joint=0.79155;gnomADv4_1_AF_joint_XX=0.78901;gnomADv4_1_AF_joint_XY=0.794124;gnomADv4_1_AN_grpmax_joint=90218;gnomADv4_1_AN_joint=1599442;gnomADv4_1_AN_joint_XX=804892;gnomADv4_1_AN_joint_XY=794550;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=500764;gnomADv4_1_nhomalt_joint_XX=250311;gnomADv4_1_nhomalt_joint_XY=250453;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29490054 chr22_29490054_A_C A C 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=19.82;CADD_Rawscore=2.69206;CSQ=C|missense_variant|MODERATE|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding|4/4||ENST00000310624.7:c.2414A>C|ENSP00000311997.6:p.Glu805Ala|2459|2414|805|E/A|gAg/gCg|rs165602||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||A|A||1||chr22:g.29490054A>C|benign||1||||||||||,C|missense_variant|MODERATE|NEFH|4744|Transcript|NM_021076.4|protein_coding|4/4||NM_021076.4:c.2414A>C|NP_066554.2:p.Glu805Ala|2459|2414|805|E/A|gAg/gCg|rs165602||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||A|A||||chr22:g.29490054A>C|benign||1||||||||||,C|missense_variant|MODERATE|NEFH|4744|Transcript|XM_011530200.3|protein_coding|5/5||XM_011530200.3:c.2126A>C|XP_011528502.1:p.Glu709Ala|2171|2126|709|E/A|gAg/gCg|rs165602||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||A|A||||chr22:g.29490054A>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29490054_29490055delinsCA;ClinVar_CLNSIG=Uncertain_significance;ClinVar_GENEINFO=NEFH:4744;ClinVar_MNV=chr22|29490054|AG|CA|1;ClinVar_Variation_ID=2420685;REVEL_score=0.382;SpliceAI=C|NEFH|0.00|0.00|0.00|0.00|11|-1|-2|43;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=250032;gnomADv4_1_AC_joint_XX=125009;gnomADv4_1_AC_joint_XY=125023;gnomADv4_1_AF_grpmax_joint=0.178087;gnomADv4_1_AF_joint=0.154928;gnomADv4_1_AF_joint_XX=0.153892;gnomADv4_1_AF_joint_XY=0.155977;gnomADv4_1_AN_grpmax_joint=91068;gnomADv4_1_AN_joint=1613862;gnomADv4_1_AN_joint_XX=812314;gnomADv4_1_AN_joint_XY=801548;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=20439;gnomADv4_1_nhomalt_joint_XX=10134;gnomADv4_1_nhomalt_joint_XY=10305;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29490424 chr22_29490424_A_G A G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.986;CADD_Rawscore=0.162048;CSQ=G|synonymous_variant|LOW|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding|4/4||ENST00000310624.7%3Ac.2784A>G|ENSP00000311997.6%3Ap.Val928%3D|2829|2784|928|V|gtA/gtG|rs165625||1||HGNC|HGNC%3A7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||A|A||1||chr22%3Ag.29490424A>G|benign||1||||||||||,G|synonymous_variant|LOW|NEFH|4744|Transcript|NM_021076.4|protein_coding|4/4||NM_021076.4%3Ac.2784A>G|NP_066554.2%3Ap.Val928%3D|2829|2784|928|V|gtA/gtG|rs165625||1||EntrezGene|HGNC%3A7737|||NP_066554.2||||||RefSeq||A|A||||chr22%3Ag.29490424A>G|benign||1||||||||||,G|synonymous_variant|LOW|NEFH|4744|Transcript|XM_011530200.3|protein_coding|5/5||XM_011530200.3%3Ac.2496A>G|XP_011528502.1%3Ap.Val832%3D|2541|2496|832|V|gtA/gtG|rs165625||1||EntrezGene|HGNC%3A7737|||XP_011528502.1||||||RefSeq||A|A||||chr22%3Ag.29490424A>G|benign||1||||||||||;ClinVar_CLNDN=Charcot-Marie-Tooth_disease_axonal_type_2CC|not_specified|not_provided|Amyotrophic_lateral_sclerosis_type_1;ClinVar_CLNHGVS=NC_000022.11:g.29490424A>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NEFH:4744;ClinVar_Variation_ID=66743;SpliceAI=G|NEFH|0.00|0.00|0.00|0.00|-13|2|-45|-3;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=1278233;gnomADv4_1_AC_joint_XX=641614;gnomADv4_1_AC_joint_XY=636619;gnomADv4_1_AF_grpmax_joint=0.912993;gnomADv4_1_AF_joint=0.79492;gnomADv4_1_AF_joint_XX=0.792641;gnomADv4_1_AF_joint_XY=0.797231;gnomADv4_1_AN_grpmax_joint=44824;gnomADv4_1_AN_joint=1608002;gnomADv4_1_AN_joint_XX=809464;gnomADv4_1_AN_joint_XY=798538;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=509212;gnomADv4_1_nhomalt_joint_XX=254847;gnomADv4_1_nhomalt_joint_XY=254365;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29490904 chr22_29490904_G_T G T 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.26;CADD_Rawscore=-0.359233;CSQ=T|3_prime_UTR_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding|4/4||ENST00000310624.7:c.*201G>T||3309|||||rs1061373||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||G|G||1||chr22:g.29490904G>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding|4/4||NM_021076.4:c.*201G>T||3309|||||rs1061373||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||G|G||||chr22:g.29490904G>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding|5/5||XM_011530200.3:c.*201G>T||3021|||||rs1061373||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||G|G||||chr22:g.29490904G>T|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29490904G>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NEFH:4744;ClinVar_Variation_ID=1237119;SpliceAI=T|NEFH|0.00|0.00|0.00|0.00|12|-13|-38|0;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=624927;gnomADv4_1_AC_joint_XX=304325;gnomADv4_1_AC_joint_XY=320602;gnomADv4_1_AF_grpmax_joint=0.877982;gnomADv4_1_AF_joint=0.643261;gnomADv4_1_AF_joint_XX=0.641186;gnomADv4_1_AF_joint_XY=0.645243;gnomADv4_1_AN_grpmax_joint=37896;gnomADv4_1_AN_joint=971498;gnomADv4_1_AN_joint_XX=474628;gnomADv4_1_AN_joint_XY=496870;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=202800;gnomADv4_1_nhomalt_joint_XX=98512;gnomADv4_1_nhomalt_joint_XY=104288;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29491197 chr22_29491197_G_C G C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=10.84;CADD_Rawscore=1.04533;CSQ=C|3_prime_UTR_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding|4/4||ENST00000310624.7:c.*494G>C||3602|||||rs710195||1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||G|G||1||chr22:g.29491197G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding|4/4||NM_021076.4:c.*494G>C||3602|||||rs710195||1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||G|G||||chr22:g.29491197G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding|5/5||XM_011530200.3:c.*494G>C||3314|||||rs710195||1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||G|G||||chr22:g.29491197G>C|||||||||||||;SpliceAI=C|NEFH|0.00|0.00|0.00|0.00|-50|-21|20|-12;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=153309;gnomADv4_1_AC_joint_XX=75759;gnomADv4_1_AC_joint_XY=77550;gnomADv4_1_AF_grpmax_joint=0.873707;gnomADv4_1_AF_joint=0.660217;gnomADv4_1_AF_joint_XX=0.658259;gnomADv4_1_AF_joint_XY=0.662141;gnomADv4_1_AN_grpmax_joint=9280;gnomADv4_1_AN_joint=232210;gnomADv4_1_AN_joint_XX=115090;gnomADv4_1_AN_joint_XY=117120;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=51020;gnomADv4_1_nhomalt_joint_XX=25089;gnomADv4_1_nhomalt_joint_XY=25931;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29491634 chr22_29491634_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.464;CADD_Rawscore=-0.211856;CSQ=C|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs165894|244|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||T|T||1||chr22:g.29491634T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs165894|244|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||T|T||||chr22:g.29491634T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs165894|344|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||T|T||||chr22:g.29491634T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=122812;gnomADv4_1_AC_joint_XX=62402;gnomADv4_1_AC_joint_XY=60410;gnomADv4_1_AF_grpmax_joint=0.917928;gnomADv4_1_AF_joint=0.808091;gnomADv4_1_AF_joint_XX=0.803115;gnomADv4_1_AF_joint_XY=0.813296;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151978;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=49769;gnomADv4_1_nhomalt_joint_XX=25127;gnomADv4_1_nhomalt_joint_XY=24642;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29491719 chr22_29491719_C_T C T 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.147;CADD_Rawscore=-0.508188;CSQ=T|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs6006166|329|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||C|C||1||chr22:g.29491719C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs6006166|329|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||C|C||||chr22:g.29491719C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs6006166|429|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||C|C||||chr22:g.29491719C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=95313;gnomADv4_1_AC_joint_XX=48583;gnomADv4_1_AC_joint_XY=46730;gnomADv4_1_AF_grpmax_joint=0.758171;gnomADv4_1_AF_joint=0.628366;gnomADv4_1_AF_joint_XX=0.626166;gnomADv4_1_AF_joint_XY=0.630668;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151684;gnomADv4_1_AN_joint_XX=77588;gnomADv4_1_AN_joint_XY=74096;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=30015;gnomADv4_1_nhomalt_joint_XX=15256;gnomADv4_1_nhomalt_joint_XY=14759;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29492159 chr22_29492159_C_CA C CA 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.588;CADDIndel_Rawscore=-0.152426;CSQ=A|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs35198111|769|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl|||||1||chr22:g.29492170dup|||||||||||||,A|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs35198111|769|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq|||||||chr22:g.29492170dup|||||||||||||,A|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs35198111|869|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq|||||||chr22:g.29492170dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=24483;gnomADv4_1_AC_joint_XX=13038;gnomADv4_1_AC_joint_XY=11445;gnomADv4_1_AF_grpmax_joint=0.29845;gnomADv4_1_AF_joint=0.195604;gnomADv4_1_AF_joint_XX=0.201521;gnomADv4_1_AF_joint_XY=0.189274;gnomADv4_1_AN_grpmax_joint=258;gnomADv4_1_AN_joint=125166;gnomADv4_1_AN_joint_XX=64698;gnomADv4_1_AN_joint_XY=60468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2231;gnomADv4_1_nhomalt_joint_XX=1188;gnomADv4_1_nhomalt_joint_XY=1043;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29492171 chr22_29492171_CAAA_C CAAA C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.614;CADDIndel_Rawscore=-0.14176;CSQ=-|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs140176707|782|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||AAA|AAA||1||chr22:g.29492175_29492177del|||||||||||||,-|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs140176707|782|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||AAA|AAA||||chr22:g.29492175_29492177del|||||||||||||,-|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs140176707|882|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||AAA|AAA||||chr22:g.29492175_29492177del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=50763;gnomADv4_1_AC_joint_XX=26044;gnomADv4_1_AC_joint_XY=24719;gnomADv4_1_AF_grpmax_joint=0.445105;gnomADv4_1_AF_joint=0.349083;gnomADv4_1_AF_joint_XX=0.350525;gnomADv4_1_AF_joint_XY=0.347577;gnomADv4_1_AN_grpmax_joint=5046;gnomADv4_1_AN_joint=145418;gnomADv4_1_AN_joint_XX=74300;gnomADv4_1_AN_joint_XY=71118;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8485;gnomADv4_1_nhomalt_joint_XX=4303;gnomADv4_1_nhomalt_joint_XY=4182;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29492324 chr22_29492324_G_GT G GT 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.521;CADDIndel_Rawscore=-0.182996;CSQ=T|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs549441166|934|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl|||||1||chr22:g.29492336dup|||||||||||||,T|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs549441166|934|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq|||||||chr22:g.29492336dup|||||||||||||,T|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs549441166|1034|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq|||||||chr22:g.29492336dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=26175;gnomADv4_1_AC_joint_XX=13635;gnomADv4_1_AC_joint_XY=12540;gnomADv4_1_AF_grpmax_joint=0.225087;gnomADv4_1_AF_joint=0.179684;gnomADv4_1_AF_joint_XX=0.182169;gnomADv4_1_AF_joint_XY=0.177059;gnomADv4_1_AN_grpmax_joint=66010;gnomADv4_1_AN_joint=145672;gnomADv4_1_AN_joint_XX=74848;gnomADv4_1_AN_joint_XY=70824;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2399;gnomADv4_1_nhomalt_joint_XX=1280;gnomADv4_1_nhomalt_joint_XY=1119;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29492805 chr22_29492805_T_C T C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.011;CADD_Rawscore=-1.23106;CSQ=C|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs9613931|1415|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||T|T||1||chr22:g.29492805T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs9613931|1415|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||T|T||||chr22:g.29492805T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs9613931|1515|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||T|T||||chr22:g.29492805T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=55671;gnomADv4_1_AC_joint_XX=28649;gnomADv4_1_AC_joint_XY=27022;gnomADv4_1_AF_grpmax_joint=0.46784;gnomADv4_1_AF_joint=0.36731;gnomADv4_1_AF_joint_XX=0.36956;gnomADv4_1_AF_joint_XY=0.364955;gnomADv4_1_AN_grpmax_joint=41294;gnomADv4_1_AN_joint=151564;gnomADv4_1_AN_joint_XX=77522;gnomADv4_1_AN_joint_XY=74042;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10489;gnomADv4_1_nhomalt_joint_XX=5379;gnomADv4_1_nhomalt_joint_XY=5110;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29493212 chr22_29493212_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.997;CADD_Rawscore=0.364995;CSQ=A|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs4333024|1822|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||G|G||1||chr22:g.29493212G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs4333024|1822|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||G|G||||chr22:g.29493212G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs4333024|1922|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||G|G||||chr22:g.29493212G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=54400;gnomADv4_1_AC_joint_XX=27961;gnomADv4_1_AC_joint_XY=26439;gnomADv4_1_AF_grpmax_joint=0.444164;gnomADv4_1_AF_joint=0.358083;gnomADv4_1_AF_joint_XX=0.359886;gnomADv4_1_AF_joint_XY=0.356196;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9876;gnomADv4_1_nhomalt_joint_XX=5048;gnomADv4_1_nhomalt_joint_XY=4828;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29493335 chr22_29493335_TATA_T TATA T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.375;CADDIndel_Rawscore=-0.265143;CSQ=-|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs62956160|1946|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||ATA|ATA||1||chr22:g.29493338_29493340del|||||||||||||,-|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs62956160|1946|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||ATA|ATA||||chr22:g.29493338_29493340del|||||||||||||,-|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs62956160|2046|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||ATA|ATA||||chr22:g.29493338_29493340del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=65850;gnomADv4_1_AC_joint_XX=33122;gnomADv4_1_AC_joint_XY=32728;gnomADv4_1_AF_grpmax_joint=0.583194;gnomADv4_1_AF_joint=0.433995;gnomADv4_1_AF_joint_XX=0.426786;gnomADv4_1_AF_joint_XY=0.441542;gnomADv4_1_AN_grpmax_joint=4796;gnomADv4_1_AN_joint=151730;gnomADv4_1_AN_joint_XX=77608;gnomADv4_1_AN_joint_XY=74122;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=14387;gnomADv4_1_nhomalt_joint_XX=7162;gnomADv4_1_nhomalt_joint_XY=7225;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29493573 chr22_29493573_T_C T C 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=1.177;CADD_Rawscore=0.024516;CSQ=C|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs8137532|2183|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||T|T||1||chr22:g.29493573T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs8137532|2183|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||T|T||||chr22:g.29493573T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs8137532|2283|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||T|T||||chr22:g.29493573T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=39545;gnomADv4_1_AC_joint_XX=20526;gnomADv4_1_AC_joint_XY=19019;gnomADv4_1_AF_grpmax_joint=0.332996;gnomADv4_1_AF_joint=0.260052;gnomADv4_1_AF_joint_XX=0.264095;gnomADv4_1_AF_joint_XY=0.255824;gnomADv4_1_AN_grpmax_joint=41484;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5392;gnomADv4_1_nhomalt_joint_XX=2858;gnomADv4_1_nhomalt_joint_XY=2534;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29493661 chr22_29493661_G_A G A 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.66;CADD_Rawscore=-0.123807;CSQ=A|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs8140848|2271|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||G|G||1||chr22:g.29493661G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs8140848|2271|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||G|G||||chr22:g.29493661G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs8140848|2371|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||G|G||||chr22:g.29493661G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=30061;gnomADv4_1_AC_joint_XX=15783;gnomADv4_1_AC_joint_XY=14278;gnomADv4_1_AF_grpmax_joint=0.251701;gnomADv4_1_AF_joint=0.19744;gnomADv4_1_AF_joint_XX=0.202851;gnomADv4_1_AF_joint_XY=0.191785;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152254;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3137;gnomADv4_1_nhomalt_joint_XX=1686;gnomADv4_1_nhomalt_joint_XY=1451;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29494318 chr22_29494318_T_TAAAC T TAAAC 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.567;CADDIndel_Rawscore=-0.161784;CSQ=AAAC|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs361665|2928|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl|||||1||chr22:g.29494323_29494326dup|||||||||||||,AAAC|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs361665|2928|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq|||||||chr22:g.29494323_29494326dup|||||||||||||,AAAC|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs361665|3028|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq|||||||chr22:g.29494323_29494326dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAC,AAAC,AAAC;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=121261;gnomADv4_1_AC_joint_XX=61632;gnomADv4_1_AC_joint_XY=59629;gnomADv4_1_AF_grpmax_joint=0.917803;gnomADv4_1_AF_joint=0.80054;gnomADv4_1_AF_joint_XX=0.795375;gnomADv4_1_AF_joint_XY=0.80595;gnomADv4_1_AN_grpmax_joint=5134;gnomADv4_1_AN_joint=151474;gnomADv4_1_AN_joint_XX=77488;gnomADv4_1_AN_joint_XY=73986;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=48693;gnomADv4_1_nhomalt_joint_XX=24590;gnomADv4_1_nhomalt_joint_XY=24103;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29494414 chr22_29494414_T_C T C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.02;CADD_Rawscore=0.166575;CSQ=C|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs165668|3024|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||T|T||1||chr22:g.29494414T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs165668|3024|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||T|T||||chr22:g.29494414T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs165668|3124|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||T|T||||chr22:g.29494414T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=122145;gnomADv4_1_AC_joint_XX=61997;gnomADv4_1_AC_joint_XY=60148;gnomADv4_1_AF_grpmax_joint=0.919243;gnomADv4_1_AF_joint=0.802667;gnomADv4_1_AF_joint_XX=0.797184;gnomADv4_1_AF_joint_XY=0.808397;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152174;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=49184;gnomADv4_1_nhomalt_joint_XX=24796;gnomADv4_1_nhomalt_joint_XY=24388;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29495013 chr22_29495013_T_C T C 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.629;CADD_Rawscore=0.10972;CSQ=C|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs174651|3623|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||T|T||1||chr22:g.29495013T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs174651|3623|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||T|T||||chr22:g.29495013T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs174651|3723|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||T|T||||chr22:g.29495013T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=122170;gnomADv4_1_AC_joint_XX=62018;gnomADv4_1_AC_joint_XY=60152;gnomADv4_1_AF_grpmax_joint=0.918726;gnomADv4_1_AF_joint=0.802609;gnomADv4_1_AF_joint_XX=0.797126;gnomADv4_1_AF_joint_XY=0.808343;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152216;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=49199;gnomADv4_1_nhomalt_joint_XX=24807;gnomADv4_1_nhomalt_joint_XY=24392;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29495670 chr22_29495670_CAA_C CAA C 16 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=16;CADDIndel_PHREDscore=1.19;CADDIndel_Rawscore=0.027471;CSQ=-|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs71750345|4281|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||AA|AA||1||chr22:g.29495696_29495697del|||||||||||||,-|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs71750345|4281|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||AA|AA||||chr22:g.29495696_29495697del|||||||||||||,-|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs71750345|4381|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||AA|AA||||chr22:g.29495696_29495697del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=16265;gnomADv4_1_AC_joint_XX=9418;gnomADv4_1_AC_joint_XY=6847;gnomADv4_1_AF_grpmax_joint=0.329618;gnomADv4_1_AF_joint=0.289991;gnomADv4_1_AF_joint_XX=0.29691;gnomADv4_1_AF_joint_XY=0.280983;gnomADv4_1_AN_grpmax_joint=32116;gnomADv4_1_AN_joint=56088;gnomADv4_1_AN_joint_XX=31720;gnomADv4_1_AN_joint_XY=24368;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=115;gnomADv4_1_nhomalt_joint_XX=56;gnomADv4_1_nhomalt_joint_XY=59;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29495936 chr22_29495936_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.291;CADD_Rawscore=-0.329423;CSQ=T|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs5763275|4546|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||C|C||1||chr22:g.29495936C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs5763275|4546|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||C|C||||chr22:g.29495936C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs5763275|4646|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||C|C||||chr22:g.29495936C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=43799;gnomADv4_1_AC_joint_XX=22836;gnomADv4_1_AC_joint_XY=20963;gnomADv4_1_AF_grpmax_joint=0.440152;gnomADv4_1_AF_joint=0.291085;gnomADv4_1_AF_joint_XX=0.296256;gnomADv4_1_AF_joint_XY=0.285654;gnomADv4_1_AN_grpmax_joint=40920;gnomADv4_1_AN_joint=150468;gnomADv4_1_AN_joint_XX=77082;gnomADv4_1_AN_joint_XY=73386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7076;gnomADv4_1_nhomalt_joint_XX=3743;gnomADv4_1_nhomalt_joint_XY=3333;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29496031 chr22_29496031_AC_A AC A 38 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=0.432;CADDIndel_Rawscore=-0.229997;CSQ=-|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs62855461|4642|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||C|C||1||chr22:g.29496032del|||||||||||||,-|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs62855461|4642|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||C|C||||chr22:g.29496032del|||||||||||||,-|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs62855461|4742|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||C|C||||chr22:g.29496032del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=76120;gnomADv4_1_AC_joint_XX=40028;gnomADv4_1_AC_joint_XY=36092;gnomADv4_1_AF_grpmax_joint=0.812535;gnomADv4_1_AF_joint=0.710685;gnomADv4_1_AF_joint_XX=0.703356;gnomADv4_1_AF_joint_XY=0.718993;gnomADv4_1_AN_grpmax_joint=3558;gnomADv4_1_AN_joint=107108;gnomADv4_1_AN_joint_XX=56910;gnomADv4_1_AN_joint_XY=50198;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=26237;gnomADv4_1_nhomalt_joint_XX=13542;gnomADv4_1_nhomalt_joint_XY=12695;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29496043 chr22_29496043_A_C A C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.634;CADD_Rawscore=0.110638;CSQ=C|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs12172359|4653|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||A|A||1||chr22:g.29496043A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs12172359|4653|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||A|A||||chr22:g.29496043A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs12172359|4753|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||A|A||||chr22:g.29496043A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=43345;gnomADv4_1_AC_joint_XX=22760;gnomADv4_1_AC_joint_XY=20585;gnomADv4_1_AF_grpmax_joint=0.317202;gnomADv4_1_AF_joint=0.296559;gnomADv4_1_AF_joint_XX=0.302113;gnomADv4_1_AF_joint_XY=0.29065;gnomADv4_1_AN_grpmax_joint=66910;gnomADv4_1_AN_joint=146160;gnomADv4_1_AN_joint_XX=75336;gnomADv4_1_AN_joint_XY=70824;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6641;gnomADv4_1_nhomalt_joint_XX=3440;gnomADv4_1_nhomalt_joint_XY=3201;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29496173 chr22_29496173_A_G A G 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.59;CADD_Rawscore=-0.151875;CSQ=G|downstream_gene_variant|MODIFIER|NEFH|ENSG00000100285|Transcript|ENST00000310624|protein_coding||||||||||rs5763276|4783|1||HGNC|HGNC:7737|1|CCDS13858.1|ENSP00000311997|P12036.214||UPI00001AEF71|||Ensembl||A|A||1||chr22:g.29496173A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|NM_021076.4|protein_coding||||||||||rs5763276|4783|1||EntrezGene|HGNC:7737|||NP_066554.2||||||RefSeq||A|A||||chr22:g.29496173A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NEFH|4744|Transcript|XM_011530200.3|protein_coding||||||||||rs5763276|4883|1||EntrezGene|HGNC:7737|||XP_011528502.1||||||RefSeq||A|A||||chr22:g.29496173A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G;VEP_Feature=ENST00000310624,NM_021076.4,XM_011530200.3;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100285,4744,4744;VEP_SYMBOL=NEFH,NEFH,NEFH;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=44107;gnomADv4_1_AC_joint_XX=22970;gnomADv4_1_AC_joint_XY=21137;gnomADv4_1_AF_grpmax_joint=0.439188;gnomADv4_1_AF_joint=0.290602;gnomADv4_1_AF_joint_XX=0.296097;gnomADv4_1_AF_joint_XY=0.284858;gnomADv4_1_AN_grpmax_joint=41406;gnomADv4_1_AN_joint=151778;gnomADv4_1_AN_joint_XX=77576;gnomADv4_1_AN_joint_XY=74202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7138;gnomADv4_1_nhomalt_joint_XX=3772;gnomADv4_1_nhomalt_joint_XY=3366;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29496819 chr22_29496819_T_TAAA T TAAA 29 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=29;CADDIndel_PHREDscore=1.024;CADDIndel_Rawscore=-0.011738;CSQ=AAA|intergenic_variant|MODIFIER|||||||||||||||rs567948137|||||||||||||||||||||chr22:g.29496837_29496839dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=24500;gnomADv4_1_AC_joint_XX=13358;gnomADv4_1_AC_joint_XY=11142;gnomADv4_1_AF_grpmax_joint=0.308696;gnomADv4_1_AF_joint=0.211385;gnomADv4_1_AF_joint_XX=0.218068;gnomADv4_1_AF_joint_XY=0.203894;gnomADv4_1_AN_grpmax_joint=230;gnomADv4_1_AN_joint=115902;gnomADv4_1_AN_joint_XX=61256;gnomADv4_1_AN_joint_XY=54646;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2446;gnomADv4_1_nhomalt_joint_XX=1378;gnomADv4_1_nhomalt_joint_XY=1068;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29497051 chr22_29497051_T_C T C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.54;CADD_Rawscore=-0.173751;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs165853|||||||||||||||||||||chr22:g.29497051T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15932;gnomADv4_1_AC_joint_XX=7922;gnomADv4_1_AC_joint_XY=8010;gnomADv4_1_AF_grpmax_joint=0.150975;gnomADv4_1_AF_joint=0.104721;gnomADv4_1_AF_joint_XX=0.101862;gnomADv4_1_AF_joint_XY=0.107711;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1084;gnomADv4_1_nhomalt_joint_XX=537;gnomADv4_1_nhomalt_joint_XY=547;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29498113 chr22_29498113_TC_T TC T 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=2.113;CADDIndel_Rawscore=0.178518;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs361758|||||||||||||||||||||chr22:g.29498116del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=105824;gnomADv4_1_AC_joint_XX=53601;gnomADv4_1_AC_joint_XY=52223;gnomADv4_1_AF_grpmax_joint=0.796289;gnomADv4_1_AF_joint=0.696366;gnomADv4_1_AF_joint_XX=0.689952;gnomADv4_1_AF_joint_XY=0.703075;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=151966;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=37496;gnomADv4_1_nhomalt_joint_XX=18816;gnomADv4_1_nhomalt_joint_XY=18680;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29498412 chr22_29498412_C_CTT C CTT 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=1.618;CADDIndel_Rawscore=0.107995;CSQ=TT|intergenic_variant|MODIFIER|||||||||||||||rs56766255|||||||||||||||||||||chr22:g.29498427_29498428dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38885;gnomADv4_1_AC_joint_XX=20711;gnomADv4_1_AC_joint_XY=18174;gnomADv4_1_AF_grpmax_joint=0.322299;gnomADv4_1_AF_joint=0.282849;gnomADv4_1_AF_joint_XX=0.288205;gnomADv4_1_AF_joint_XY=0.276984;gnomADv4_1_AN_grpmax_joint=64856;gnomADv4_1_AN_joint=137476;gnomADv4_1_AN_joint_XX=71862;gnomADv4_1_AN_joint_XY=65614;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5650;gnomADv4_1_nhomalt_joint_XX=3001;gnomADv4_1_nhomalt_joint_XY=2649;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29498464 chr22_29498464_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.767;CADD_Rawscore=-0.085823;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs165803|||||||||||||||||||||chr22:g.29498464A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=111652;gnomADv4_1_AC_joint_XX=56924;gnomADv4_1_AC_joint_XY=54728;gnomADv4_1_AF_grpmax_joint=0.796333;gnomADv4_1_AF_joint=0.745828;gnomADv4_1_AF_joint_XX=0.741372;gnomADv4_1_AF_joint_XY=0.750521;gnomADv4_1_AN_grpmax_joint=5072;gnomADv4_1_AN_joint=149702;gnomADv4_1_AN_joint_XX=76782;gnomADv4_1_AN_joint_XY=72920;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41722;gnomADv4_1_nhomalt_joint_XX=21168;gnomADv4_1_nhomalt_joint_XY=20554;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29498816 chr22_29498816_G_C G C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.036;CADD_Rawscore=0.368433;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs165663|||||||||||||||||||||chr22:g.29498816G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=112928;gnomADv4_1_AC_joint_XX=57402;gnomADv4_1_AC_joint_XY=55526;gnomADv4_1_AF_grpmax_joint=0.796911;gnomADv4_1_AF_joint=0.742459;gnomADv4_1_AF_joint_XX=0.738441;gnomADv4_1_AF_joint_XY=0.746658;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=42145;gnomADv4_1_nhomalt_joint_XX=21330;gnomADv4_1_nhomalt_joint_XY=20815;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29499643 chr22_29499643_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.469;CADD_Rawscore=0.317924;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs165662|||||||||||||||||||||chr22:g.29499643T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=152108;gnomADv4_1_AC_joint_XX=77756;gnomADv4_1_AC_joint_XY=74352;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68020;gnomADv4_1_AN_joint=152108;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76054;gnomADv4_1_nhomalt_joint_XX=38878;gnomADv4_1_nhomalt_joint_XY=37176;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29499665 chr22_29499665_T_G T G 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.425;CADD_Rawscore=-0.233826;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs165717|||||||||||||||||||||chr22:g.29499665T>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=152146;gnomADv4_1_AC_joint_XX=77749;gnomADv4_1_AC_joint_XY=74397;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999987;gnomADv4_1_AF_joint_XX=0.999987;gnomADv4_1_AF_joint_XY=0.999987;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152148;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=76072;gnomADv4_1_nhomalt_joint_XX=38874;gnomADv4_1_nhomalt_joint_XY=37198;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29500485 chr22_29500485_A_G A G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.167;CADD_Rawscore=-0.474531;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5752930|||||||||||||||||||||chr22:g.29500485A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=44130;gnomADv4_1_AC_joint_XX=22984;gnomADv4_1_AC_joint_XY=21146;gnomADv4_1_AF_grpmax_joint=0.439338;gnomADv4_1_AF_joint=0.290842;gnomADv4_1_AF_joint_XX=0.296178;gnomADv4_1_AF_joint_XY=0.285256;gnomADv4_1_AN_grpmax_joint=41344;gnomADv4_1_AN_joint=151732;gnomADv4_1_AN_joint_XX=77602;gnomADv4_1_AN_joint_XY=74130;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7144;gnomADv4_1_nhomalt_joint_XX=3780;gnomADv4_1_nhomalt_joint_XY=3364;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29501057 chr22_29501057_GAAGAA_G GAAGAA G 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=7.57;CADDIndel_Rawscore=0.720793;CSQ=-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||||||||||rs146235999|4817|-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||AAGAA|AAGAA||||chr22:g.29501062_29501066del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||||||||||rs146235999|4817|-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||AAGAA|AAGAA||||chr22:g.29501062_29501066del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||||||||||rs146235999|4817|-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||AAGAA|AAGAA||||chr22:g.29501062_29501066del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||||||||||rs146235999|4817|-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||AAGAA|AAGAA||||chr22:g.29501062_29501066del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||||||||||rs146235999|4817|-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||AAGAA|AAGAA||||chr22:g.29501062_29501066del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||||||||||rs146235999|4817|-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||AAGAA|AAGAA||||chr22:g.29501062_29501066del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||||||||||rs146235999|4817|-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||AAGAA|AAGAA||||chr22:g.29501062_29501066del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||||||||||rs146235999|4817|-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||AAGAA|AAGAA||||chr22:g.29501062_29501066del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||||||||||rs146235999|4817|-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||AAGAA|AAGAA||||chr22:g.29501062_29501066del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||||||||||rs146235999|4817|-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||AAGAA|AAGAA||||chr22:g.29501062_29501066del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000490103,NM_001002877.2,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29630;gnomADv4_1_AC_joint_XX=15600;gnomADv4_1_AC_joint_XY=14030;gnomADv4_1_AF_grpmax_joint=0.255172;gnomADv4_1_AF_joint=0.199287;gnomADv4_1_AF_joint_XX=0.204569;gnomADv4_1_AF_joint_XY=0.193726;gnomADv4_1_AN_grpmax_joint=290;gnomADv4_1_AN_joint=148680;gnomADv4_1_AN_joint_XX=76258;gnomADv4_1_AN_joint_XY=72422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3054;gnomADv4_1_nhomalt_joint_XX=1653;gnomADv4_1_nhomalt_joint_XY=1401;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29501455 chr22_29501455_T_C T C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.657;CADD_Rawscore=0.114302;CSQ=C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||||||||||rs113656612|4424|-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29501455T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||||||||||rs113656612|4424|-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29501455T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||||||||||rs113656612|4424|-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29501455T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||||||||||rs113656612|4424|-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29501455T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||||||||||rs113656612|4424|-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29501455T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||||||||||rs113656612|4424|-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29501455T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||||||||||rs113656612|4424|-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||T|T||||chr22:g.29501455T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||||||||||rs113656612|4424|-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29501455T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||||||||||rs113656612|4424|-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29501455T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||||||||||rs113656612|4424|-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29501455T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000490103,NM_001002877.2,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31567;gnomADv4_1_AC_joint_XX=16684;gnomADv4_1_AC_joint_XY=14883;gnomADv4_1_AF_grpmax_joint=0.314815;gnomADv4_1_AF_joint=0.221956;gnomADv4_1_AF_joint_XX=0.228385;gnomADv4_1_AF_joint_XY=0.215166;gnomADv4_1_AN_grpmax_joint=270;gnomADv4_1_AN_joint=142222;gnomADv4_1_AN_joint_XX=73052;gnomADv4_1_AN_joint_XY=69170;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3531;gnomADv4_1_nhomalt_joint_XX=1913;gnomADv4_1_nhomalt_joint_XY=1618;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29501529 chr22_29501529_C_CA C CA 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=40;CADDIndel_PHREDscore=0.993;CADDIndel_Rawscore=-0.01966;CSQ=A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||||||||||rs531647825|4349|-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29501547dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||||||||||rs531647825|4349|-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq|||||||chr22:g.29501547dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||||||||||rs531647825|4349|-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq|||||||chr22:g.29501547dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||||||||||rs531647825|4349|-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq|||||||chr22:g.29501547dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||||||||||rs531647825|4349|-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq|||||||chr22:g.29501547dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||||||||||rs531647825|4349|-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq|||||||chr22:g.29501547dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||||||||||rs531647825|4349|-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq|||||||chr22:g.29501547dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||||||||||rs531647825|4349|-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq|||||||chr22:g.29501547dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||||||||||rs531647825|4349|-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq|||||||chr22:g.29501547dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||||||||||rs531647825|4349|-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq|||||||chr22:g.29501547dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000490103,NM_001002877.2,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32165;gnomADv4_1_AC_joint_XX=17428;gnomADv4_1_AC_joint_XY=14737;gnomADv4_1_AF_grpmax_joint=0.430108;gnomADv4_1_AF_joint=0.298271;gnomADv4_1_AF_joint_XX=0.305872;gnomADv4_1_AF_joint_XY=0.289756;gnomADv4_1_AN_grpmax_joint=186;gnomADv4_1_AN_joint=107838;gnomADv4_1_AN_joint_XX=56978;gnomADv4_1_AN_joint_XY=50860;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4142;gnomADv4_1_nhomalt_joint_XX=2298;gnomADv4_1_nhomalt_joint_XY=1844;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29501800 chr22_29501800_T_A T A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=2.661;CADD_Rawscore=0.240751;CSQ=A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||||||||||rs12628277|4079|-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29501800T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||||||||||rs12628277|4079|-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29501800T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||||||||||rs12628277|4079|-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29501800T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||||||||||rs12628277|4079|-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29501800T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||||||||||rs12628277|4079|-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29501800T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||||||||||rs12628277|4079|-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29501800T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||||||||||rs12628277|4079|-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||T|T||||chr22:g.29501800T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||||||||||rs12628277|4079|-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29501800T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||||||||||rs12628277|4079|-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29501800T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||||||||||rs12628277|4079|-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29501800T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000490103,NM_001002877.2,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47927;gnomADv4_1_AC_joint_XX=24703;gnomADv4_1_AC_joint_XY=23224;gnomADv4_1_AF_grpmax_joint=0.332599;gnomADv4_1_AF_joint=0.316408;gnomADv4_1_AF_joint_XX=0.318814;gnomADv4_1_AF_joint_XY=0.313889;gnomADv4_1_AN_grpmax_joint=41284;gnomADv4_1_AN_joint=151472;gnomADv4_1_AN_joint_XX=77484;gnomADv4_1_AN_joint_XY=73988;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7576;gnomADv4_1_nhomalt_joint_XX=3939;gnomADv4_1_nhomalt_joint_XY=3637;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29503746 chr22_29503746_GA_G GA G 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.595;CADDIndel_Rawscore=-0.149562;CSQ=-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs5844860|4584|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29503758del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||||||||||rs5844860|4421|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29503758del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||||||||||rs5844860|4421|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29503758del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||||||||||rs5844860|4611|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29503758del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||||||||||rs5844860|4580|-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29503758del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs5844860|4582|-1||HGNC|HGNC:19074|2||||||||Ensembl||A|A||||chr22:g.29503758del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||||||||||rs5844860|2132|-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29503758del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||||||||||rs5844860|2132|-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29503758del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||||||||||rs5844860|4420|-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29503758del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||||||||||rs5844860|4420|-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29503758del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||||||||||rs5844860|2132|-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29503758del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||||||||||rs5844860|2132|-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29503758del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||||||||||rs5844860|2132|-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29503758del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||||||||||rs5844860|2132|-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29503758del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||||||||||rs5844860|2132|-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||A|A||||chr22:g.29503758del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||||||||||rs5844860|2132|-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29503758del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||||||||||rs5844860|2132|-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29503758del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||||||||||rs5844860|2132|-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29503758del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29636;gnomADv4_1_AC_joint_XX=15589;gnomADv4_1_AC_joint_XY=14047;gnomADv4_1_AF_grpmax_joint=0.255989;gnomADv4_1_AF_joint=0.204739;gnomADv4_1_AF_joint_XX=0.209114;gnomADv4_1_AF_joint_XY=0.200094;gnomADv4_1_AN_grpmax_joint=14442;gnomADv4_1_AN_joint=144750;gnomADv4_1_AN_joint_XX=74548;gnomADv4_1_AN_joint_XY=70202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=3056;gnomADv4_1_nhomalt_joint_XX=1647;gnomADv4_1_nhomalt_joint_XY=1409;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29504659 chr22_29504659_C_CA C CA 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADDIndel_PHREDscore=0.804;CADDIndel_Rawscore=-0.073687;CSQ=A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs5844861|3671|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl|||||||chr22:g.29504686dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||||||||||rs5844861|3508|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29504686dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||||||||||rs5844861|3508|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29504686dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||||||||||rs5844861|3698|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29504686dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||||||||||rs5844861|3667|-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl|||||||chr22:g.29504686dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs5844861|3669|-1||HGNC|HGNC:19074|2||||||||Ensembl|||||||chr22:g.29504686dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||||||||||rs5844861|1219|-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29504686dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||||||||||rs5844861|1219|-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq|||||||chr22:g.29504686dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||||||||||rs5844861|3507|-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||||OK|||chr22:g.29504686dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||||||||||rs5844861|3507|-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||||OK|||chr22:g.29504686dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||||||||||rs5844861|1219|-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq|||||||chr22:g.29504686dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||||||||||rs5844861|1219|-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq|||||||chr22:g.29504686dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||||||||||rs5844861|1219|-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq|||||||chr22:g.29504686dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||||||||||rs5844861|1219|-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq|||||||chr22:g.29504686dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||||||||||rs5844861|1219|-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq|||||||chr22:g.29504686dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||||||||||rs5844861|1219|-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq|||||||chr22:g.29504686dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||||||||||rs5844861|1219|-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq|||||||chr22:g.29504686dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||||||||||rs5844861|1219|-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq|||||||chr22:g.29504686dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21154;gnomADv4_1_AC_joint_XX=12357;gnomADv4_1_AC_joint_XY=8797;gnomADv4_1_AF_grpmax_joint=0.552557;gnomADv4_1_AF_joint=0.426544;gnomADv4_1_AF_joint_XX=0.445265;gnomADv4_1_AF_joint_XY=0.402756;gnomADv4_1_AN_grpmax_joint=25382;gnomADv4_1_AN_joint=49594;gnomADv4_1_AN_joint_XX=27752;gnomADv4_1_AN_joint_XY=21842;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8547;gnomADv4_1_nhomalt_joint_XX=5021;gnomADv4_1_nhomalt_joint_XY=3526;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29504867 chr22_29504867_C_G C G 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=3.791;CADD_Rawscore=0.346718;CSQ=G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs5763286|3464|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29504867C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||||||||||rs5763286|3301|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29504867C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||||||||||rs5763286|3301|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29504867C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||||||||||rs5763286|3491|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29504867C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||||||||||rs5763286|3460|-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29504867C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs5763286|3462|-1||HGNC|HGNC:19074|2||||||||Ensembl||C|C||||chr22:g.29504867C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||||||||||rs5763286|1012|-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29504867C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||||||||||rs5763286|1012|-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29504867C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||||||||||rs5763286|3300|-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29504867C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||||||||||rs5763286|3300|-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29504867C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||||||||||rs5763286|1012|-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29504867C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||||||||||rs5763286|1012|-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29504867C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||||||||||rs5763286|1012|-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29504867C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||||||||||rs5763286|1012|-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29504867C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||||||||||rs5763286|1012|-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||C|C||||chr22:g.29504867C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||||||||||rs5763286|1012|-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29504867C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||||||||||rs5763286|1012|-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29504867C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||||||||||rs5763286|1012|-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29504867C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30028;gnomADv4_1_AC_joint_XX=15774;gnomADv4_1_AC_joint_XY=14254;gnomADv4_1_AF_grpmax_joint=0.251701;gnomADv4_1_AF_joint=0.197714;gnomADv4_1_AF_joint_XX=0.203142;gnomADv4_1_AF_joint_XY=0.192035;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151876;gnomADv4_1_AN_joint_XX=77650;gnomADv4_1_AN_joint_XY=74226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3132;gnomADv4_1_nhomalt_joint_XX=1685;gnomADv4_1_nhomalt_joint_XY=1447;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29506007 chr22_29506007_G_A G A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=2.784;CADD_Rawscore=0.253317;CSQ=A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs5763287|2324|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29506007G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||||||||||rs5763287|2161|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29506007G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||||||||||rs5763287|2161|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29506007G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||||||||||rs5763287|2351|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29506007G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||||||||||rs5763287|2320|-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29506007G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs5763287|2322|-1||HGNC|HGNC:19074|2||||||||Ensembl||G|G||||chr22:g.29506007G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding|20/20||ENST00000490103.6:c.*2450C>T||4600|||||rs5763287||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29506007G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding|21/21||NM_001002877.2:c.*2450C>T||4716|||||rs5763287||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29506007G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||||||||||rs5763287|2160|-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29506007G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||||||||||rs5763287|2160|-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29506007G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding|20/20||NM_003678.5:c.*2450C>T||4600|||||rs5763287||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29506007G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding|21/21||XM_005261797.2:c.*2450C>T||4633|||||rs5763287||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29506007G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding|22/22||XM_005261798.2:c.*2450C>T||4749|||||rs5763287||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29506007G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding|21/21||XM_005261799.2:c.*2450C>T||4754|||||rs5763287||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29506007G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding|11/11||XM_005261801.5:c.*2450C>T||3648|||||rs5763287||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||G|G||||chr22:g.29506007G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding|22/22||XM_006724347.2:c.*2450C>T||4870|||||rs5763287||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29506007G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding|22/22||XM_047441558.1:c.*2450C>T||4862|||||rs5763287||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29506007G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding|21/21||XM_047441559.1:c.*2450C>T||4829|||||rs5763287||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29506007G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|-17|15|7|4;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29961;gnomADv4_1_AC_joint_XX=15744;gnomADv4_1_AC_joint_XY=14217;gnomADv4_1_AF_grpmax_joint=0.243492;gnomADv4_1_AF_joint=0.19745;gnomADv4_1_AF_joint_XX=0.20297;gnomADv4_1_AF_joint_XY=0.191676;gnomADv4_1_AN_grpmax_joint=15212;gnomADv4_1_AN_joint=151740;gnomADv4_1_AN_joint_XX=77568;gnomADv4_1_AN_joint_XY=74172;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=3111;gnomADv4_1_nhomalt_joint_XX=1681;gnomADv4_1_nhomalt_joint_XY=1430;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29506203 chr22_29506203_A_C A C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.976;CADD_Rawscore=-0.024005;CSQ=C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs5752933|2128|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29506203A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||||||||||rs5752933|1965|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29506203A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||||||||||rs5752933|1965|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29506203A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||||||||||rs5752933|2155|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29506203A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||||||||||rs5752933|2124|-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29506203A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs5752933|2126|-1||HGNC|HGNC:19074|2||||||||Ensembl||A|A||||chr22:g.29506203A>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding|20/20||ENST00000490103.6:c.*2254T>G||4404|||||rs5752933||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29506203A>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding|21/21||NM_001002877.2:c.*2254T>G||4520|||||rs5752933||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29506203A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||||||||||rs5752933|1964|-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29506203A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||||||||||rs5752933|1964|-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29506203A>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding|20/20||NM_003678.5:c.*2254T>G||4404|||||rs5752933||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29506203A>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding|21/21||XM_005261797.2:c.*2254T>G||4437|||||rs5752933||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29506203A>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding|22/22||XM_005261798.2:c.*2254T>G||4553|||||rs5752933||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29506203A>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding|21/21||XM_005261799.2:c.*2254T>G||4558|||||rs5752933||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29506203A>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding|11/11||XM_005261801.5:c.*2254T>G||3452|||||rs5752933||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||A|A||||chr22:g.29506203A>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding|22/22||XM_006724347.2:c.*2254T>G||4674|||||rs5752933||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29506203A>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding|22/22||XM_047441558.1:c.*2254T>G||4666|||||rs5752933||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29506203A>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding|21/21||XM_047441559.1:c.*2254T>G||4633|||||rs5752933||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29506203A>C|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|-43|-15|-13|-9;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32148;gnomADv4_1_AC_joint_XX=16926;gnomADv4_1_AC_joint_XY=15222;gnomADv4_1_AF_grpmax_joint=0.284247;gnomADv4_1_AF_joint=0.211258;gnomADv4_1_AF_joint_XX=0.217687;gnomADv4_1_AF_joint_XY=0.204542;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152174;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3617;gnomADv4_1_nhomalt_joint_XX=1952;gnomADv4_1_nhomalt_joint_XY=1665;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29506710 chr22_29506710_G_A G A 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=2.685;CADD_Rawscore=0.243239;CSQ=A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs79963234|1621|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29506710G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||||||||||rs79963234|1458|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29506710G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||||||||||rs79963234|1458|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29506710G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||||||||||rs79963234|1648|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29506710G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||||||||||rs79963234|1617|-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29506710G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs79963234|1619|-1||HGNC|HGNC:19074|2||||||||Ensembl||G|G||||chr22:g.29506710G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding|20/20||ENST00000490103.6:c.*1747C>T||3897|||||rs79963234||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29506710G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding|21/21||NM_001002877.2:c.*1747C>T||4013|||||rs79963234||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29506710G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||||||||||rs79963234|1457|-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29506710G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||||||||||rs79963234|1457|-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29506710G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding|20/20||NM_003678.5:c.*1747C>T||3897|||||rs79963234||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29506710G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding|21/21||XM_005261797.2:c.*1747C>T||3930|||||rs79963234||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29506710G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding|22/22||XM_005261798.2:c.*1747C>T||4046|||||rs79963234||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29506710G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding|21/21||XM_005261799.2:c.*1747C>T||4051|||||rs79963234||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29506710G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding|11/11||XM_005261801.5:c.*1747C>T||2945|||||rs79963234||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||G|G||||chr22:g.29506710G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding|22/22||XM_006724347.2:c.*1747C>T||4167|||||rs79963234||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29506710G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding|22/22||XM_047441558.1:c.*1747C>T||4159|||||rs79963234||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29506710G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding|21/21||XM_047441559.1:c.*1747C>T||4126|||||rs79963234||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29506710G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|-43|-39|7|-3;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7915;gnomADv4_1_AC_joint_XX=3910;gnomADv4_1_AC_joint_XY=4005;gnomADv4_1_AF_grpmax_joint=0.0723288;gnomADv4_1_AF_joint=0.052008;gnomADv4_1_AF_joint_XX=0.05027;gnomADv4_1_AF_joint_XY=0.0538249;gnomADv4_1_AN_grpmax_joint=68078;gnomADv4_1_AN_joint=152188;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=308;gnomADv4_1_nhomalt_joint_XX=146;gnomADv4_1_nhomalt_joint_XY=162;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29508530 chr22_29508530_T_C T C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.098;CADD_Rawscore=0.283747;CSQ=C|splice_polypyrimidine_tract_variant&intron_variant&NMD_transcript_variant|LOW|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||18/18|ENST00000358079.8:c.*1844-10A>G|||||||rs2283859||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29508530T>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant|LOW|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||19/19|ENST00000397871.5:c.1989-10A>G|||||||rs2283859||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29508530T>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant|LOW|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||20/20|ENST00000397872.5:c.1989-10A>G|||||||rs2283859||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29508530T>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant|LOW|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||20/20|ENST00000397873.6:c.1989-10A>G|||||||rs2283859||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29508530T>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant&NMD_transcript_variant|LOW|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||22/22|ENST00000442555.5:c.*1076-10A>G|||||||rs2283859||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29508530T>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||1/1|ENST00000472164.1:n.338-10A>G|||||||rs2283859||-1||HGNC|HGNC:19074|2||||||||Ensembl||T|T||||chr22:g.29508530T>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant|LOW|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||19/19|ENST00000490103.6:c.1989-10A>G|||||||rs2283859||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29508530T>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant|LOW|THOC5|8563|Transcript|NM_001002877.2|protein_coding||20/20|NM_001002877.2:c.1989-10A>G|||||||rs2283859||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29508530T>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant|LOW|THOC5|8563|Transcript|NM_001002878.1|protein_coding||20/20|NM_001002878.1:c.1989-10A>G|||||||rs2283859||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29508530T>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant|LOW|THOC5|8563|Transcript|NM_001002879.1|protein_coding||19/19|NM_001002879.1:c.1989-10A>G|||||||rs2283859||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29508530T>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant|LOW|THOC5|8563|Transcript|NM_003678.5|protein_coding||19/19|NM_003678.5:c.1989-10A>G|||||||rs2283859||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29508530T>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant|LOW|THOC5|8563|Transcript|XM_005261797.2|protein_coding||20/20|XM_005261797.2:c.2022-10A>G|||||||rs2283859||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29508530T>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant|LOW|THOC5|8563|Transcript|XM_005261798.2|protein_coding||21/21|XM_005261798.2:c.2022-10A>G|||||||rs2283859||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29508530T>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant|LOW|THOC5|8563|Transcript|XM_005261799.2|protein_coding||20/20|XM_005261799.2:c.2022-10A>G|||||||rs2283859||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29508530T>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant|LOW|THOC5|8563|Transcript|XM_005261801.5|protein_coding||10/10|XM_005261801.5:c.972-10A>G|||||||rs2283859||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||T|T||||chr22:g.29508530T>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant|LOW|THOC5|8563|Transcript|XM_006724347.2|protein_coding||21/21|XM_006724347.2:c.2022-10A>G|||||||rs2283859||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29508530T>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant|LOW|THOC5|8563|Transcript|XM_047441558.1|protein_coding||21/21|XM_047441558.1:c.2022-10A>G|||||||rs2283859||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29508530T>C|||||||||||||,C|splice_polypyrimidine_tract_variant&intron_variant|LOW|THOC5|8563|Transcript|XM_047441559.1|protein_coding||20/20|XM_047441559.1:c.1989-10A>G|||||||rs2283859||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29508530T>C|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|-10|-22|-36|28;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=391134;gnomADv4_1_AC_joint_XX=197586;gnomADv4_1_AC_joint_XY=193548;gnomADv4_1_AF_grpmax_joint=0.299901;gnomADv4_1_AF_joint=0.242883;gnomADv4_1_AF_joint_XX=0.24381;gnomADv4_1_AF_joint_XY=0.241944;gnomADv4_1_AN_grpmax_joint=6052;gnomADv4_1_AN_joint=1610380;gnomADv4_1_AN_joint_XX=810410;gnomADv4_1_AN_joint_XY=799970;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=48678;gnomADv4_1_nhomalt_joint_XX=24678;gnomADv4_1_nhomalt_joint_XY=24000;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29509062 chr22_29509062_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=9.744;CADD_Rawscore=0.948335;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||18/18|ENST00000358079.8:c.*1844-542C>T|||||||rs6006178||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29509062G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||19/19|ENST00000397871.5:c.1989-542C>T|||||||rs6006178||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29509062G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||20/20|ENST00000397872.5:c.1989-542C>T|||||||rs6006178||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29509062G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||20/20|ENST00000397873.6:c.1989-542C>T|||||||rs6006178||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29509062G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs6006178|4827|-1||||5||||||||Ensembl||G|G||||chr22:g.29509062G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||22/22|ENST00000442555.5:c.*1076-542C>T|||||||rs6006178||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29509062G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||1/1|ENST00000472164.1:n.338-542C>T|||||||rs6006178||-1||HGNC|HGNC:19074|2||||||||Ensembl||G|G||||chr22:g.29509062G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||19/19|ENST00000490103.6:c.1989-542C>T|||||||rs6006178||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29509062G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||20/20|NM_001002877.2:c.1989-542C>T|||||||rs6006178||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29509062G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||20/20|NM_001002878.1:c.1989-542C>T|||||||rs6006178||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29509062G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||19/19|NM_001002879.1:c.1989-542C>T|||||||rs6006178||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29509062G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||19/19|NM_003678.5:c.1989-542C>T|||||||rs6006178||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29509062G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||20/20|XM_005261797.2:c.2022-542C>T|||||||rs6006178||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29509062G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||21/21|XM_005261798.2:c.2022-542C>T|||||||rs6006178||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29509062G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||20/20|XM_005261799.2:c.2022-542C>T|||||||rs6006178||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29509062G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||10/10|XM_005261801.5:c.972-542C>T|||||||rs6006178||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||G|G||||chr22:g.29509062G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||21/21|XM_006724347.2:c.2022-542C>T|||||||rs6006178||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29509062G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||21/21|XM_047441558.1:c.2022-542C>T|||||||rs6006178||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29509062G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||20/20|XM_047441559.1:c.1989-542C>T|||||||rs6006178||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29509062G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|-7|20|25|12;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38941;gnomADv4_1_AC_joint_XX=20245;gnomADv4_1_AC_joint_XY=18696;gnomADv4_1_AF_grpmax_joint=0.309422;gnomADv4_1_AF_joint=0.25643;gnomADv4_1_AF_joint_XX=0.260775;gnomADv4_1_AF_joint_XY=0.251886;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=151858;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5087;gnomADv4_1_nhomalt_joint_XX=2657;gnomADv4_1_nhomalt_joint_XY=2430;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29509288 chr22_29509288_A_G A G 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.952;CADD_Rawscore=-0.030391;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||18/18|ENST00000358079.8:c.*1844-768T>C|||||||rs55652051||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29509288A>G|||1||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||19/19|ENST00000397871.5:c.1989-768T>C|||||||rs55652051||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29509288A>G|||1||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||20/20|ENST00000397872.5:c.1989-768T>C|||||||rs55652051||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29509288A>G|||1||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||20/20|ENST00000397873.6:c.1989-768T>C|||||||rs55652051||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29509288A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs55652051|4601|-1||||5||||||||Ensembl||A|A||||chr22:g.29509288A>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||22/22|ENST00000442555.5:c.*1076-768T>C|||||||rs55652051||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29509288A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||1/1|ENST00000472164.1:n.338-768T>C|||||||rs55652051||-1||HGNC|HGNC:19074|2||||||||Ensembl||A|A||||chr22:g.29509288A>G|||1||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||19/19|ENST00000490103.6:c.1989-768T>C|||||||rs55652051||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29509288A>G|||1||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||20/20|NM_001002877.2:c.1989-768T>C|||||||rs55652051||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29509288A>G|||1||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||20/20|NM_001002878.1:c.1989-768T>C|||||||rs55652051||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29509288A>G|||1||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||19/19|NM_001002879.1:c.1989-768T>C|||||||rs55652051||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29509288A>G|||1||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||19/19|NM_003678.5:c.1989-768T>C|||||||rs55652051||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29509288A>G|||1||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||20/20|XM_005261797.2:c.2022-768T>C|||||||rs55652051||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29509288A>G|||1||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||21/21|XM_005261798.2:c.2022-768T>C|||||||rs55652051||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29509288A>G|||1||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||20/20|XM_005261799.2:c.2022-768T>C|||||||rs55652051||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29509288A>G|||1||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||10/10|XM_005261801.5:c.972-768T>C|||||||rs55652051||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||A|A||||chr22:g.29509288A>G|||1||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||21/21|XM_006724347.2:c.2022-768T>C|||||||rs55652051||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29509288A>G|||1||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||21/21|XM_047441558.1:c.2022-768T>C|||||||rs55652051||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29509288A>G|||1||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||20/20|XM_047441559.1:c.1989-768T>C|||||||rs55652051||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29509288A>G|||1||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|-20|2|-20|7;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26425;gnomADv4_1_AC_joint_XX=13957;gnomADv4_1_AC_joint_XY=12468;gnomADv4_1_AF_grpmax_joint=0.226027;gnomADv4_1_AF_joint=0.176543;gnomADv4_1_AF_joint_XX=0.182325;gnomADv4_1_AF_joint_XY=0.170491;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=149680;gnomADv4_1_AN_joint_XX=76550;gnomADv4_1_AN_joint_XY=73130;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2549;gnomADv4_1_nhomalt_joint_XX=1394;gnomADv4_1_nhomalt_joint_XY=1155;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29509388 chr22_29509388_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=10.34;CADD_Rawscore=1.00057;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||18/18|ENST00000358079.8:c.*1844-868T>C|||||||rs2283860||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29509388A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||19/19|ENST00000397871.5:c.1989-868T>C|||||||rs2283860||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29509388A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||20/20|ENST00000397872.5:c.1989-868T>C|||||||rs2283860||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29509388A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||20/20|ENST00000397873.6:c.1989-868T>C|||||||rs2283860||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29509388A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs2283860|4501|-1||||5||||||||Ensembl||A|A||||chr22:g.29509388A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||22/22|ENST00000442555.5:c.*1076-868T>C|||||||rs2283860||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29509388A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||1/1|ENST00000472164.1:n.338-868T>C|||||||rs2283860||-1||HGNC|HGNC:19074|2||||||||Ensembl||A|A||||chr22:g.29509388A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||19/19|ENST00000490103.6:c.1989-868T>C|||||||rs2283860||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29509388A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||20/20|NM_001002877.2:c.1989-868T>C|||||||rs2283860||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29509388A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||20/20|NM_001002878.1:c.1989-868T>C|||||||rs2283860||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29509388A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||19/19|NM_001002879.1:c.1989-868T>C|||||||rs2283860||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29509388A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||19/19|NM_003678.5:c.1989-868T>C|||||||rs2283860||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29509388A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||20/20|XM_005261797.2:c.2022-868T>C|||||||rs2283860||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29509388A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||21/21|XM_005261798.2:c.2022-868T>C|||||||rs2283860||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29509388A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||20/20|XM_005261799.2:c.2022-868T>C|||||||rs2283860||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29509388A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||10/10|XM_005261801.5:c.972-868T>C|||||||rs2283860||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||A|A||||chr22:g.29509388A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||21/21|XM_006724347.2:c.2022-868T>C|||||||rs2283860||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29509388A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||21/21|XM_047441558.1:c.2022-868T>C|||||||rs2283860||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29509388A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||20/20|XM_047441559.1:c.1989-868T>C|||||||rs2283860||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29509388A>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|43|4|-17|35;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68886;gnomADv4_1_AC_joint_XX=35750;gnomADv4_1_AC_joint_XY=33136;gnomADv4_1_AF_grpmax_joint=0.746711;gnomADv4_1_AF_joint=0.453162;gnomADv4_1_AF_joint_XX=0.460103;gnomADv4_1_AF_joint_XY=0.445904;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16102;gnomADv4_1_nhomalt_joint_XX=8463;gnomADv4_1_nhomalt_joint_XY=7639;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29509746 chr22_29509746_C_G C G 10 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=10;CADD_PHREDscore=5.297;CADD_Rawscore=0.48395;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||18/18|ENST00000358079.8:c.*1844-1226G>C|||||||rs7292442||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29509746C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||19/19|ENST00000397871.5:c.1989-1226G>C|||||||rs7292442||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29509746C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||20/20|ENST00000397872.5:c.1989-1226G>C|||||||rs7292442||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29509746C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||20/20|ENST00000397873.6:c.1989-1226G>C|||||||rs7292442||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29509746C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs7292442|4143|-1||||5||||||||Ensembl||C|C||||chr22:g.29509746C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||22/22|ENST00000442555.5:c.*1076-1226G>C|||||||rs7292442||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29509746C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||1/1|ENST00000472164.1:n.338-1226G>C|||||||rs7292442||-1||HGNC|HGNC:19074|2||||||||Ensembl||C|C||||chr22:g.29509746C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||19/19|ENST00000490103.6:c.1989-1226G>C|||||||rs7292442||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29509746C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||20/20|NM_001002877.2:c.1989-1226G>C|||||||rs7292442||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29509746C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||20/20|NM_001002878.1:c.1989-1226G>C|||||||rs7292442||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29509746C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||19/19|NM_001002879.1:c.1989-1226G>C|||||||rs7292442||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29509746C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||19/19|NM_003678.5:c.1989-1226G>C|||||||rs7292442||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29509746C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||20/20|XM_005261797.2:c.2022-1226G>C|||||||rs7292442||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29509746C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||21/21|XM_005261798.2:c.2022-1226G>C|||||||rs7292442||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29509746C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||20/20|XM_005261799.2:c.2022-1226G>C|||||||rs7292442||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29509746C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||10/10|XM_005261801.5:c.972-1226G>C|||||||rs7292442||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||C|C||||chr22:g.29509746C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||21/21|XM_006724347.2:c.2022-1226G>C|||||||rs7292442||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29509746C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||21/21|XM_047441558.1:c.2022-1226G>C|||||||rs7292442||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29509746C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||20/20|XM_047441559.1:c.1989-1226G>C|||||||rs7292442||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29509746C>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|-7|-1|49|5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29704;gnomADv4_1_AC_joint_XX=15744;gnomADv4_1_AC_joint_XY=13960;gnomADv4_1_AF_grpmax_joint=0.411377;gnomADv4_1_AF_joint=0.233765;gnomADv4_1_AF_joint_XX=0.238401;gnomADv4_1_AF_joint_XY=0.228747;gnomADv4_1_AN_grpmax_joint=2426;gnomADv4_1_AN_joint=127068;gnomADv4_1_AN_joint_XX=66040;gnomADv4_1_AN_joint_XY=61028;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3810;gnomADv4_1_nhomalt_joint_XX=2030;gnomADv4_1_nhomalt_joint_XY=1780;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29509813 chr22_29509813_A_G A G 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=12;CADD_PHREDscore=8.191;CADD_Rawscore=0.789723;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||18/18|ENST00000358079.8:c.*1843+1293T>C|||||||rs5763291||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29509813A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||19/19|ENST00000397871.5:c.1988+1293T>C|||||||rs5763291||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29509813A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||20/20|ENST00000397872.5:c.1988+1293T>C|||||||rs5763291||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29509813A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||20/20|ENST00000397873.6:c.1988+1293T>C|||||||rs5763291||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29509813A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs5763291|4076|-1||||5||||||||Ensembl||A|A||||chr22:g.29509813A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||22/22|ENST00000442555.5:c.*1075+1293T>C|||||||rs5763291||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29509813A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||1/1|ENST00000472164.1:n.337+1293T>C|||||||rs5763291||-1||HGNC|HGNC:19074|2||||||||Ensembl||A|A||||chr22:g.29509813A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||19/19|ENST00000490103.6:c.1988+1293T>C|||||||rs5763291||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29509813A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||20/20|NM_001002877.2:c.1988+1293T>C|||||||rs5763291||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29509813A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||20/20|NM_001002878.1:c.1988+1293T>C|||||||rs5763291||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29509813A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||19/19|NM_001002879.1:c.1988+1293T>C|||||||rs5763291||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29509813A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||19/19|NM_003678.5:c.1988+1293T>C|||||||rs5763291||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29509813A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||20/20|XM_005261797.2:c.2021+1293T>C|||||||rs5763291||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29509813A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||21/21|XM_005261798.2:c.2021+1293T>C|||||||rs5763291||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29509813A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||20/20|XM_005261799.2:c.2021+1293T>C|||||||rs5763291||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29509813A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||10/10|XM_005261801.5:c.971+1293T>C|||||||rs5763291||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||A|A||||chr22:g.29509813A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||21/21|XM_006724347.2:c.2021+1293T>C|||||||rs5763291||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29509813A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||21/21|XM_047441558.1:c.2021+1293T>C|||||||rs5763291||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29509813A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||20/20|XM_047441559.1:c.1988+1293T>C|||||||rs5763291||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29509813A>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|32|-18|32|38;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17086;gnomADv4_1_AC_joint_XX=9126;gnomADv4_1_AC_joint_XY=7960;gnomADv4_1_AF_grpmax_joint=0.186992;gnomADv4_1_AF_joint=0.133869;gnomADv4_1_AF_joint_XX=0.138462;gnomADv4_1_AF_joint_XY=0.128965;gnomADv4_1_AN_grpmax_joint=246;gnomADv4_1_AN_joint=127632;gnomADv4_1_AN_joint_XX=65910;gnomADv4_1_AN_joint_XY=61722;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=556;gnomADv4_1_nhomalt_joint_XX=297;gnomADv4_1_nhomalt_joint_XY=259;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29510712 chr22_29510712_T_C T C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.223;CADD_Rawscore=0.192025;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||18/18|ENST00000358079.8:c.*1843+394A>G|||||||rs6006179||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29510712T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||19/19|ENST00000397871.5:c.1988+394A>G|||||||rs6006179||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29510712T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||20/20|ENST00000397872.5:c.1988+394A>G|||||||rs6006179||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29510712T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||20/20|ENST00000397873.6:c.1988+394A>G|||||||rs6006179||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29510712T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs6006179|3177|-1||||5||||||||Ensembl||T|T||||chr22:g.29510712T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||22/22|ENST00000442555.5:c.*1075+394A>G|||||||rs6006179||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29510712T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||1/1|ENST00000472164.1:n.337+394A>G|||||||rs6006179||-1||HGNC|HGNC:19074|2||||||||Ensembl||T|T||||chr22:g.29510712T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||19/19|ENST00000490103.6:c.1988+394A>G|||||||rs6006179||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29510712T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||20/20|NM_001002877.2:c.1988+394A>G|||||||rs6006179||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29510712T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||20/20|NM_001002878.1:c.1988+394A>G|||||||rs6006179||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29510712T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||19/19|NM_001002879.1:c.1988+394A>G|||||||rs6006179||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29510712T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||19/19|NM_003678.5:c.1988+394A>G|||||||rs6006179||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29510712T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||20/20|XM_005261797.2:c.2021+394A>G|||||||rs6006179||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29510712T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||21/21|XM_005261798.2:c.2021+394A>G|||||||rs6006179||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29510712T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||20/20|XM_005261799.2:c.2021+394A>G|||||||rs6006179||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29510712T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||10/10|XM_005261801.5:c.971+394A>G|||||||rs6006179||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||T|T||||chr22:g.29510712T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||21/21|XM_006724347.2:c.2021+394A>G|||||||rs6006179||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29510712T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||21/21|XM_047441558.1:c.2021+394A>G|||||||rs6006179||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29510712T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||20/20|XM_047441559.1:c.1988+394A>G|||||||rs6006179||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29510712T>C|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|5|-42|5|-45;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73058;gnomADv4_1_AC_joint_XX=37947;gnomADv4_1_AC_joint_XY=35111;gnomADv4_1_AF_grpmax_joint=0.746419;gnomADv4_1_AF_joint=0.480993;gnomADv4_1_AF_joint_XX=0.488567;gnomADv4_1_AF_joint_XY=0.473067;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151890;gnomADv4_1_AN_joint_XX=77670;gnomADv4_1_AN_joint_XY=74220;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17722;gnomADv4_1_nhomalt_joint_XX=9302;gnomADv4_1_nhomalt_joint_XY=8420;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29511861 chr22_29511861_G_T G T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.365;CADD_Rawscore=-0.272418;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||17/18|ENST00000358079.8:c.*1652+160C>A|||||||rs2074948||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29511861G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||18/19|ENST00000397871.5:c.1797+160C>A|||||||rs2074948||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29511861G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||19/20|ENST00000397872.5:c.1797+160C>A|||||||rs2074948||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29511861G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||19/20|ENST00000397873.6:c.1797+160C>A|||||||rs2074948||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29511861G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs2074948|2028|-1||||5||||||||Ensembl||G|G||||chr22:g.29511861G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||21/22|ENST00000442555.5:c.*884+160C>A|||||||rs2074948||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29511861G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs2074948|419|-1||HGNC|HGNC:19074|2||||||||Ensembl||G|G||||chr22:g.29511861G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||18/19|ENST00000490103.6:c.1797+160C>A|||||||rs2074948||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29511861G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||19/20|NM_001002877.2:c.1797+160C>A|||||||rs2074948||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29511861G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||19/20|NM_001002878.1:c.1797+160C>A|||||||rs2074948||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29511861G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||18/19|NM_001002879.1:c.1797+160C>A|||||||rs2074948||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29511861G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||18/19|NM_003678.5:c.1797+160C>A|||||||rs2074948||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29511861G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||19/20|XM_005261797.2:c.1830+160C>A|||||||rs2074948||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29511861G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||20/21|XM_005261798.2:c.1830+160C>A|||||||rs2074948||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29511861G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||19/20|XM_005261799.2:c.1830+160C>A|||||||rs2074948||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29511861G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||9/10|XM_005261801.5:c.780+160C>A|||||||rs2074948||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||G|G||||chr22:g.29511861G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||20/21|XM_006724347.2:c.1830+160C>A|||||||rs2074948||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29511861G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||20/21|XM_047441558.1:c.1830+160C>A|||||||rs2074948||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29511861G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||19/20|XM_047441559.1:c.1797+160C>A|||||||rs2074948||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29511861G>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|4|47|45|-45;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30190;gnomADv4_1_AC_joint_XX=15580;gnomADv4_1_AC_joint_XY=14610;gnomADv4_1_AF_grpmax_joint=0.429787;gnomADv4_1_AF_joint=0.198415;gnomADv4_1_AF_joint_XX=0.200314;gnomADv4_1_AF_joint_XY=0.196429;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3342;gnomADv4_1_nhomalt_joint_XX=1729;gnomADv4_1_nhomalt_joint_XY=1613;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29512083 chr22_29512083_C_T C T 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;AlphaMissense_class=likely_benign;AlphaMissense_pathogenicity=0.0583;AlphaMissense_protein_variant=V579I;AlphaMissense_transcript_id=ENST00000397873.6;AlphaMissense_uniprot_id=Q13769;CADD_PHREDscore=1.033;CADD_Rawscore=-0.009408;CSQ=T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay|17/19||ENST00000358079.8:c.*1590G>A||1984|||||rs1049534||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29512083C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding|18/20||ENST00000397871.5:c.1735G>A|ENSP00000380969.1:p.Val579Ile|1954|1735|579|V/I|Gtt/Att|rs1049534||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29512083C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding|19/21||ENST00000397872.5:c.1735G>A|ENSP00000380970.1:p.Val579Ile|2070|1735|579|V/I|Gtt/Att|rs1049534||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29512083C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding|19/21||ENST00000397873.6:c.1735G>A|ENSP00000380971.2:p.Val579Ile|1958|1735|579|V/I|Gtt/Att|rs1049534||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29512083C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs1049534|1806|-1||||5||||||||Ensembl||C|C||||chr22:g.29512083C>T|||||||||||||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay|21/23||ENST00000442555.5:c.*822G>A||2565|||||rs1049534||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29512083C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs1049534|641|-1||HGNC|HGNC:19074|2||||||||Ensembl||C|C||||chr22:g.29512083C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding|18/20||ENST00000490103.6:c.1735G>A|ENSP00000420306.1:p.Val579Ile|1833|1735|579|V/I|Gtt/Att|rs1049534||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29512083C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|NM_001002877.2|protein_coding|19/21||NM_001002877.2:c.1735G>A|NP_001002877.1:p.Val579Ile|1949|1735|579|V/I|Gtt/Att|rs1049534||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29512083C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|NM_001002878.1|protein_coding|19/21||NM_001002878.1:c.1735G>A|NP_001002878.1:p.Val579Ile|2070|1735|579|V/I|Gtt/Att|rs1049534||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29512083C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|NM_001002879.1|protein_coding|18/20||NM_001002879.1:c.1735G>A|NP_001002879.1:p.Val579Ile|1954|1735|579|V/I|Gtt/Att|rs1049534||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29512083C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|NM_003678.5|protein_coding|18/20||NM_003678.5:c.1735G>A|NP_003669.4:p.Val579Ile|1833|1735|579|V/I|Gtt/Att|rs1049534||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29512083C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|XM_005261797.2|protein_coding|19/21||XM_005261797.2:c.1768G>A|XP_005261854.1:p.Val590Ile|1866|1768|590|V/I|Gtt/Att|rs1049534||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29512083C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|XM_005261798.2|protein_coding|20/22||XM_005261798.2:c.1768G>A|XP_005261855.1:p.Val590Ile|1982|1768|590|V/I|Gtt/Att|rs1049534||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29512083C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|XM_005261799.2|protein_coding|19/21||XM_005261799.2:c.1768G>A|XP_005261856.1:p.Val590Ile|1987|1768|590|V/I|Gtt/Att|rs1049534||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29512083C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|XM_005261801.5|protein_coding|9/11||XM_005261801.5:c.718G>A|XP_005261858.1:p.Val240Ile|881|718|240|V/I|Gtt/Att|rs1049534||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||C|C||||chr22:g.29512083C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|XM_006724347.2|protein_coding|20/22||XM_006724347.2:c.1768G>A|XP_006724410.1:p.Val590Ile|2103|1768|590|V/I|Gtt/Att|rs1049534||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29512083C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|XM_047441558.1|protein_coding|20/22||XM_047441558.1:c.1768G>A|XP_047297514.1:p.Val590Ile|2095|1768|590|V/I|Gtt/Att|rs1049534||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29512083C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|XM_047441559.1|protein_coding|19/21||XM_047441559.1:c.1735G>A|XP_047297515.1:p.Val579Ile|2062|1735|579|V/I|Gtt/Att|rs1049534||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29512083C>T|||||||||||||;REVEL_score=0.045;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-28|-9|-9|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=363980;gnomADv4_1_AC_joint_XX=184345;gnomADv4_1_AC_joint_XY=179635;gnomADv4_1_AF_grpmax_joint=0.461604;gnomADv4_1_AF_joint=0.22557;gnomADv4_1_AF_joint_XX=0.226965;gnomADv4_1_AF_joint_XY=0.224155;gnomADv4_1_AN_grpmax_joint=44822;gnomADv4_1_AN_joint=1613602;gnomADv4_1_AN_joint_XX=812216;gnomADv4_1_AN_joint_XY=801386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=43436;gnomADv4_1_nhomalt_joint_XX=22138;gnomADv4_1_nhomalt_joint_XY=21298;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29512165 chr22_29512165_G_T G T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.171;CADD_Rawscore=-0.468524;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||16/18|ENST00000358079.8:c.*1537-29C>A|||||||rs2007668||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29512165G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||17/19|ENST00000397871.5:c.1682-29C>A|||||||rs2007668||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29512165G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||18/20|ENST00000397872.5:c.1682-29C>A|||||||rs2007668||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29512165G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||18/20|ENST00000397873.6:c.1682-29C>A|||||||rs2007668||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29512165G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs2007668|1724|-1||||5||||||||Ensembl||G|G||||chr22:g.29512165G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||20/22|ENST00000442555.5:c.*769-29C>A|||||||rs2007668||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29512165G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs2007668|723|-1||HGNC|HGNC:19074|2||||||||Ensembl||G|G||||chr22:g.29512165G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||17/19|ENST00000490103.6:c.1682-29C>A|||||||rs2007668||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29512165G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||18/20|NM_001002877.2:c.1682-29C>A|||||||rs2007668||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29512165G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||18/20|NM_001002878.1:c.1682-29C>A|||||||rs2007668||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29512165G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||17/19|NM_001002879.1:c.1682-29C>A|||||||rs2007668||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29512165G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||17/19|NM_003678.5:c.1682-29C>A|||||||rs2007668||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29512165G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||18/20|XM_005261797.2:c.1715-29C>A|||||||rs2007668||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29512165G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||19/21|XM_005261798.2:c.1715-29C>A|||||||rs2007668||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29512165G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||18/20|XM_005261799.2:c.1715-29C>A|||||||rs2007668||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29512165G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||8/10|XM_005261801.5:c.665-29C>A|||||||rs2007668||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||G|G||||chr22:g.29512165G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||19/21|XM_006724347.2:c.1715-29C>A|||||||rs2007668||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29512165G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||19/21|XM_047441558.1:c.1715-29C>A|||||||rs2007668||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29512165G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||18/20|XM_047441559.1:c.1682-29C>A|||||||rs2007668||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29512165G>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-29|-40|48|-29;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=780819;gnomADv4_1_AC_joint_XX=397825;gnomADv4_1_AC_joint_XY=382994;gnomADv4_1_AF_grpmax_joint=0.75955;gnomADv4_1_AF_joint=0.491079;gnomADv4_1_AF_joint_XX=0.497796;gnomADv4_1_AF_joint_XY=0.484291;gnomADv4_1_AN_grpmax_joint=44658;gnomADv4_1_AN_joint=1590006;gnomADv4_1_AN_joint_XX=799172;gnomADv4_1_AN_joint_XY=790834;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=196702;gnomADv4_1_nhomalt_joint_XX=101169;gnomADv4_1_nhomalt_joint_XY=95533;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29512860 chr22_29512860_G_T G T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.008;CADD_Rawscore=-0.015749;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||16/18|ENST00000358079.8:c.*1537-724C>A|||||||rs737975||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29512860G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||17/19|ENST00000397871.5:c.1682-724C>A|||||||rs737975||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29512860G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||18/20|ENST00000397872.5:c.1682-724C>A|||||||rs737975||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29512860G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||18/20|ENST00000397873.6:c.1682-724C>A|||||||rs737975||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29512860G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs737975|1029|-1||||5||||||||Ensembl||G|G||||chr22:g.29512860G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||20/22|ENST00000442555.5:c.*769-724C>A|||||||rs737975||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29512860G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs737975|1418|-1||HGNC|HGNC:19074|2||||||||Ensembl||G|G||||chr22:g.29512860G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||17/19|ENST00000490103.6:c.1682-724C>A|||||||rs737975||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29512860G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||18/20|NM_001002877.2:c.1682-724C>A|||||||rs737975||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29512860G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||18/20|NM_001002878.1:c.1682-724C>A|||||||rs737975||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29512860G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||17/19|NM_001002879.1:c.1682-724C>A|||||||rs737975||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29512860G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||17/19|NM_003678.5:c.1682-724C>A|||||||rs737975||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29512860G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||18/20|XM_005261797.2:c.1715-724C>A|||||||rs737975||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29512860G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||19/21|XM_005261798.2:c.1715-724C>A|||||||rs737975||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29512860G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||18/20|XM_005261799.2:c.1715-724C>A|||||||rs737975||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29512860G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||8/10|XM_005261801.5:c.665-724C>A|||||||rs737975||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||G|G||||chr22:g.29512860G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||19/21|XM_006724347.2:c.1715-724C>A|||||||rs737975||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29512860G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||19/21|XM_047441558.1:c.1715-724C>A|||||||rs737975||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29512860G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||18/20|XM_047441559.1:c.1682-724C>A|||||||rs737975||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29512860G>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-39|8|36|8;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38697;gnomADv4_1_AC_joint_XX=20175;gnomADv4_1_AC_joint_XY=18522;gnomADv4_1_AF_grpmax_joint=0.31412;gnomADv4_1_AF_joint=0.254455;gnomADv4_1_AF_joint_XX=0.259546;gnomADv4_1_AF_joint_XY=0.249132;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4988;gnomADv4_1_nhomalt_joint_XX=2627;gnomADv4_1_nhomalt_joint_XY=2361;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29513491 chr22_29513491_C_T C T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=9.699;CADD_Rawscore=0.943988;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||16/18|ENST00000358079.8:c.*1537-1355G>A|||||||rs5752937||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29513491C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||17/19|ENST00000397871.5:c.1682-1355G>A|||||||rs5752937||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29513491C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||18/20|ENST00000397872.5:c.1682-1355G>A|||||||rs5752937||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29513491C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||18/20|ENST00000397873.6:c.1682-1355G>A|||||||rs5752937||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29513491C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs5752937|398|-1||||5||||||||Ensembl||C|C||||chr22:g.29513491C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||20/22|ENST00000442555.5:c.*769-1355G>A|||||||rs5752937||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29513491C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs5752937|2049|-1||HGNC|HGNC:19074|2||||||||Ensembl||C|C||||chr22:g.29513491C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||17/19|ENST00000490103.6:c.1682-1355G>A|||||||rs5752937||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29513491C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||18/20|NM_001002877.2:c.1682-1355G>A|||||||rs5752937||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29513491C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||18/20|NM_001002878.1:c.1682-1355G>A|||||||rs5752937||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29513491C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||17/19|NM_001002879.1:c.1682-1355G>A|||||||rs5752937||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29513491C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||17/19|NM_003678.5:c.1682-1355G>A|||||||rs5752937||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29513491C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||18/20|XM_005261797.2:c.1715-1355G>A|||||||rs5752937||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29513491C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||19/21|XM_005261798.2:c.1715-1355G>A|||||||rs5752937||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29513491C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||18/20|XM_005261799.2:c.1715-1355G>A|||||||rs5752937||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29513491C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||8/10|XM_005261801.5:c.665-1355G>A|||||||rs5752937||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||C|C||||chr22:g.29513491C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||19/21|XM_006724347.2:c.1715-1355G>A|||||||rs5752937||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29513491C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||19/21|XM_047441558.1:c.1715-1355G>A|||||||rs5752937||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29513491C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||18/20|XM_047441559.1:c.1682-1355G>A|||||||rs5752937||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29513491C>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-2|29|43|-13;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26513;gnomADv4_1_AC_joint_XX=13991;gnomADv4_1_AC_joint_XY=12522;gnomADv4_1_AF_grpmax_joint=0.231293;gnomADv4_1_AF_joint=0.17449;gnomADv4_1_AF_joint_XX=0.180092;gnomADv4_1_AF_joint_XY=0.168628;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151946;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2548;gnomADv4_1_nhomalt_joint_XX=1393;gnomADv4_1_nhomalt_joint_XY=1155;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29513951 chr22_29513951_AT_A AT A 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.583;CADDIndel_Rawscore=-0.154927;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||16/18|ENST00000358079.8:c.*1537-1816del|||||||rs71196678||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29513967del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||17/19|ENST00000397871.5:c.1682-1816del|||||||rs71196678||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29513967del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||18/20|ENST00000397872.5:c.1682-1816del|||||||rs71196678||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29513967del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||18/20|ENST00000397873.6:c.1682-1816del|||||||rs71196678||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29513967del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA|2/2||ENST00000411969.1:n.226del||226|||||rs71196678||-1||||5||||||||Ensembl||T|T||||chr22:g.29513967del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||20/22|ENST00000442555.5:c.*769-1816del|||||||rs71196678||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29513967del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs71196678|2510|-1||HGNC|HGNC:19074|2||||||||Ensembl||T|T||||chr22:g.29513967del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||17/19|ENST00000490103.6:c.1682-1816del|||||||rs71196678||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29513967del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||18/20|NM_001002877.2:c.1682-1816del|||||||rs71196678||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29513967del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||18/20|NM_001002878.1:c.1682-1816del|||||||rs71196678||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29513967del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||17/19|NM_001002879.1:c.1682-1816del|||||||rs71196678||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29513967del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||17/19|NM_003678.5:c.1682-1816del|||||||rs71196678||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29513967del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||18/20|XM_005261797.2:c.1715-1816del|||||||rs71196678||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29513967del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||19/21|XM_005261798.2:c.1715-1816del|||||||rs71196678||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29513967del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||18/20|XM_005261799.2:c.1715-1816del|||||||rs71196678||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29513967del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||8/10|XM_005261801.5:c.665-1816del|||||||rs71196678||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||T|T||||chr22:g.29513967del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||19/21|XM_006724347.2:c.1715-1816del|||||||rs71196678||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29513967del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||19/21|XM_047441558.1:c.1715-1816del|||||||rs71196678||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29513967del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||18/20|XM_047441559.1:c.1682-1816del|||||||rs71196678||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29513967del|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|24|-11|41|15;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58387;gnomADv4_1_AC_joint_XX=30746;gnomADv4_1_AC_joint_XY=27641;gnomADv4_1_AF_grpmax_joint=0.481163;gnomADv4_1_AF_joint=0.410056;gnomADv4_1_AF_joint_XX=0.420211;gnomADv4_1_AF_joint_XY=0.399321;gnomADv4_1_AN_grpmax_joint=64022;gnomADv4_1_AN_joint=142388;gnomADv4_1_AN_joint_XX=73168;gnomADv4_1_AN_joint_XY=69220;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10746;gnomADv4_1_nhomalt_joint_XX=5802;gnomADv4_1_nhomalt_joint_XY=4944;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29514106 chr22_29514106_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=5.322;CADD_Rawscore=0.486409;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||16/18|ENST00000358079.8:c.*1537-1970C>T|||||||rs5763292||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29514106G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||17/19|ENST00000397871.5:c.1682-1970C>T|||||||rs5763292||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29514106G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||18/20|ENST00000397872.5:c.1682-1970C>T|||||||rs5763292||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29514106G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||18/20|ENST00000397873.6:c.1682-1970C>T|||||||rs5763292||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29514106G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-90C>T|||||||rs5763292||-1||||5||||||||Ensembl||G|G||||chr22:g.29514106G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||20/22|ENST00000442555.5:c.*769-1970C>T|||||||rs5763292||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29514106G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs5763292|2664|-1||HGNC|HGNC:19074|2||||||||Ensembl||G|G||||chr22:g.29514106G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs5763292|4900|-1||HGNC|HGNC:19074|5||||||||Ensembl||G|G||||chr22:g.29514106G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||17/19|ENST00000490103.6:c.1682-1970C>T|||||||rs5763292||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29514106G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||18/20|NM_001002877.2:c.1682-1970C>T|||||||rs5763292||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29514106G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||18/20|NM_001002878.1:c.1682-1970C>T|||||||rs5763292||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29514106G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||17/19|NM_001002879.1:c.1682-1970C>T|||||||rs5763292||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29514106G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||17/19|NM_003678.5:c.1682-1970C>T|||||||rs5763292||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29514106G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||18/20|XM_005261797.2:c.1715-1970C>T|||||||rs5763292||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29514106G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||19/21|XM_005261798.2:c.1715-1970C>T|||||||rs5763292||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29514106G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||18/20|XM_005261799.2:c.1715-1970C>T|||||||rs5763292||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29514106G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||8/10|XM_005261801.5:c.665-1970C>T|||||||rs5763292||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||G|G||||chr22:g.29514106G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||19/21|XM_006724347.2:c.1715-1970C>T|||||||rs5763292||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29514106G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||19/21|XM_047441558.1:c.1715-1970C>T|||||||rs5763292||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29514106G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||18/20|XM_047441559.1:c.1682-1970C>T|||||||rs5763292||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29514106G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|-25|7|44|-14;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26458;gnomADv4_1_AC_joint_XX=13973;gnomADv4_1_AC_joint_XY=12485;gnomADv4_1_AF_grpmax_joint=0.232877;gnomADv4_1_AF_joint=0.174795;gnomADv4_1_AF_joint_XX=0.18053;gnomADv4_1_AF_joint_XY=0.168794;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151366;gnomADv4_1_AN_joint_XX=77400;gnomADv4_1_AN_joint_XY=73966;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2532;gnomADv4_1_nhomalt_joint_XX=1390;gnomADv4_1_nhomalt_joint_XY=1142;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29514238 chr22_29514238_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=6.215;CADD_Rawscore=0.575144;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||16/18|ENST00000358079.8:c.*1537-2102G>A|||||||rs5763293||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29514238C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||17/19|ENST00000397871.5:c.1682-2102G>A|||||||rs5763293||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29514238C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||18/20|ENST00000397872.5:c.1682-2102G>A|||||||rs5763293||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29514238C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||18/20|ENST00000397873.6:c.1682-2102G>A|||||||rs5763293||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29514238C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-222G>A|||||||rs5763293||-1||||5||||||||Ensembl||C|C||||chr22:g.29514238C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||20/22|ENST00000442555.5:c.*769-2102G>A|||||||rs5763293||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29514238C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs5763293|2796|-1||HGNC|HGNC:19074|2||||||||Ensembl||C|C||||chr22:g.29514238C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs5763293|4768|-1||HGNC|HGNC:19074|5||||||||Ensembl||C|C||||chr22:g.29514238C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||17/19|ENST00000490103.6:c.1682-2102G>A|||||||rs5763293||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29514238C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||18/20|NM_001002877.2:c.1682-2102G>A|||||||rs5763293||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29514238C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||18/20|NM_001002878.1:c.1682-2102G>A|||||||rs5763293||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29514238C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||17/19|NM_001002879.1:c.1682-2102G>A|||||||rs5763293||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29514238C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||17/19|NM_003678.5:c.1682-2102G>A|||||||rs5763293||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29514238C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||18/20|XM_005261797.2:c.1715-2102G>A|||||||rs5763293||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29514238C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||19/21|XM_005261798.2:c.1715-2102G>A|||||||rs5763293||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29514238C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||18/20|XM_005261799.2:c.1715-2102G>A|||||||rs5763293||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29514238C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||8/10|XM_005261801.5:c.665-2102G>A|||||||rs5763293||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||C|C||||chr22:g.29514238C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||19/21|XM_006724347.2:c.1715-2102G>A|||||||rs5763293||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29514238C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||19/21|XM_047441558.1:c.1715-2102G>A|||||||rs5763293||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29514238C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||18/20|XM_047441559.1:c.1682-2102G>A|||||||rs5763293||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29514238C>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-26|32|16|32;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26511;gnomADv4_1_AC_joint_XX=13999;gnomADv4_1_AC_joint_XY=12512;gnomADv4_1_AF_grpmax_joint=0.231293;gnomADv4_1_AF_joint=0.174375;gnomADv4_1_AF_joint_XX=0.180084;gnomADv4_1_AF_joint_XY=0.168403;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152034;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2543;gnomADv4_1_nhomalt_joint_XX=1395;gnomADv4_1_nhomalt_joint_XY=1148;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29516147 chr22_29516147_GA_G;chr22_29516147_G_GA GA G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.577;CADDIndel_Rawscore=-0.157428;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||16/18|ENST00000358079.8:c.*1536+881del|||||||rs57982377||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29516163del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||17/19|ENST00000397871.5:c.1681+881del|||||||rs57982377||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29516163del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||18/20|ENST00000397872.5:c.1681+881del|||||||rs57982377||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29516163del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||18/20|ENST00000397873.6:c.1681+881del|||||||rs57982377||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29516163del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-2132del|||||||rs57982377||-1||||5||||||||Ensembl||A|A||||chr22:g.29516163del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||20/22|ENST00000442555.5:c.*768+881del|||||||rs57982377||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29516163del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs57982377|4706|-1||HGNC|HGNC:19074|2||||||||Ensembl||A|A||||chr22:g.29516163del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs57982377|2858|-1||HGNC|HGNC:19074|5||||||||Ensembl||A|A||||chr22:g.29516163del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||17/19|ENST00000490103.6:c.1681+881del|||||||rs57982377||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29516163del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||18/20|NM_001002877.2:c.1681+881del|||||||rs57982377||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29516163del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||18/20|NM_001002878.1:c.1681+881del|||||||rs57982377||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29516163del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||17/19|NM_001002879.1:c.1681+881del|||||||rs57982377||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29516163del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||17/19|NM_003678.5:c.1681+881del|||||||rs57982377||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29516163del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||18/20|XM_005261797.2:c.1714+881del|||||||rs57982377||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29516163del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||19/21|XM_005261798.2:c.1714+881del|||||||rs57982377||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29516163del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||18/20|XM_005261799.2:c.1714+881del|||||||rs57982377||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29516163del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||8/10|XM_005261801.5:c.664+881del|||||||rs57982377||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||A|A||||chr22:g.29516163del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||19/21|XM_006724347.2:c.1714+881del|||||||rs57982377||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29516163del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||19/21|XM_047441558.1:c.1714+881del|||||||rs57982377||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29516163del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||18/20|XM_047441559.1:c.1681+881del|||||||rs57982377||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29516163del|||||||||||||;SpliceAI=G|THOC5|0.01|0.00|0.00|0.00|-32|-3|-12|-3;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25494;gnomADv4_1_AC_joint_XX=13743;gnomADv4_1_AC_joint_XY=11751;gnomADv4_1_AF_grpmax_joint=0.255906;gnomADv4_1_AF_joint=0.209641;gnomADv4_1_AF_joint_XX=0.213852;gnomADv4_1_AF_joint_XY=0.204921;gnomADv4_1_AN_grpmax_joint=254;gnomADv4_1_AN_joint=121608;gnomADv4_1_AN_joint_XX=64264;gnomADv4_1_AN_joint_XY=57344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2433;gnomADv4_1_nhomalt_joint_XX=1367;gnomADv4_1_nhomalt_joint_XY=1066;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29516147 chr22_29516147_GA_G;chr22_29516147_G_GA G GA 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADDIndel_PHREDscore=0.607;CADDIndel_Rawscore=-0.144716;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||16/18|ENST00000358079.8:c.*1536+881dup|||||||rs57982377||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl|||||||chr22:g.29516163dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||17/19|ENST00000397871.5:c.1681+881dup|||||||rs57982377||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29516163dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||18/20|ENST00000397872.5:c.1681+881dup|||||||rs57982377||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29516163dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||18/20|ENST00000397873.6:c.1681+881dup|||||||rs57982377||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29516163dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-2132dup|||||||rs57982377||-1||||5||||||||Ensembl|||||||chr22:g.29516163dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||20/22|ENST00000442555.5:c.*768+881dup|||||||rs57982377||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl|||||||chr22:g.29516163dup|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs57982377|4705|-1||HGNC|HGNC:19074|2||||||||Ensembl|||||||chr22:g.29516163dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs57982377|2858|-1||HGNC|HGNC:19074|5||||||||Ensembl|||||||chr22:g.29516163dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||17/19|ENST00000490103.6:c.1681+881dup|||||||rs57982377||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29516163dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||18/20|NM_001002877.2:c.1681+881dup|||||||rs57982377||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq|||||||chr22:g.29516163dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||18/20|NM_001002878.1:c.1681+881dup|||||||rs57982377||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||||OK|||chr22:g.29516163dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||17/19|NM_001002879.1:c.1681+881dup|||||||rs57982377||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||||OK|||chr22:g.29516163dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||17/19|NM_003678.5:c.1681+881dup|||||||rs57982377||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq|||||||chr22:g.29516163dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||18/20|XM_005261797.2:c.1714+881dup|||||||rs57982377||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq|||||||chr22:g.29516163dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||19/21|XM_005261798.2:c.1714+881dup|||||||rs57982377||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq|||||||chr22:g.29516163dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||18/20|XM_005261799.2:c.1714+881dup|||||||rs57982377||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq|||||||chr22:g.29516163dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||8/10|XM_005261801.5:c.664+881dup|||||||rs57982377||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq|||||||chr22:g.29516163dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||19/21|XM_006724347.2:c.1714+881dup|||||||rs57982377||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq|||||||chr22:g.29516163dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||19/21|XM_047441558.1:c.1714+881dup|||||||rs57982377||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq|||||||chr22:g.29516163dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||18/20|XM_047441559.1:c.1681+881dup|||||||rs57982377||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq|||||||chr22:g.29516163dup|||||||||||||;SpliceAI=GA|THOC5|0.00|0.00|0.00|0.00|-32|-3|-7|-6;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34008;gnomADv4_1_AC_joint_XX=18331;gnomADv4_1_AC_joint_XY=15677;gnomADv4_1_AF_grpmax_joint=0.312943;gnomADv4_1_AF_joint=0.279349;gnomADv4_1_AF_joint_XX=0.284908;gnomADv4_1_AF_joint_XY=0.273118;gnomADv4_1_AN_grpmax_joint=4512;gnomADv4_1_AN_joint=121740;gnomADv4_1_AN_joint_XX=64340;gnomADv4_1_AN_joint_XY=57400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4611;gnomADv4_1_nhomalt_joint_XX=2517;gnomADv4_1_nhomalt_joint_XY=2094;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29516170 chr22_29516170_A_G A G 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=1.51;CADD_Rawscore=0.089841;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||16/18|ENST00000358079.8:c.*1536+859T>C|||||||rs12628784||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29516170A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||17/19|ENST00000397871.5:c.1681+859T>C|||||||rs12628784||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29516170A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||18/20|ENST00000397872.5:c.1681+859T>C|||||||rs12628784||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29516170A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||18/20|ENST00000397873.6:c.1681+859T>C|||||||rs12628784||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29516170A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-2154T>C|||||||rs12628784||-1||||5||||||||Ensembl||A|A||||chr22:g.29516170A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||20/22|ENST00000442555.5:c.*768+859T>C|||||||rs12628784||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29516170A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs12628784|4728|-1||HGNC|HGNC:19074|2||||||||Ensembl||A|A||||chr22:g.29516170A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs12628784|2836|-1||HGNC|HGNC:19074|5||||||||Ensembl||A|A||||chr22:g.29516170A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||17/19|ENST00000490103.6:c.1681+859T>C|||||||rs12628784||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29516170A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||18/20|NM_001002877.2:c.1681+859T>C|||||||rs12628784||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29516170A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||18/20|NM_001002878.1:c.1681+859T>C|||||||rs12628784||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29516170A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||17/19|NM_001002879.1:c.1681+859T>C|||||||rs12628784||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29516170A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||17/19|NM_003678.5:c.1681+859T>C|||||||rs12628784||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29516170A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||18/20|XM_005261797.2:c.1714+859T>C|||||||rs12628784||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29516170A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||19/21|XM_005261798.2:c.1714+859T>C|||||||rs12628784||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29516170A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||18/20|XM_005261799.2:c.1714+859T>C|||||||rs12628784||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29516170A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||8/10|XM_005261801.5:c.664+859T>C|||||||rs12628784||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||A|A||||chr22:g.29516170A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||19/21|XM_006724347.2:c.1714+859T>C|||||||rs12628784||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29516170A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||19/21|XM_047441558.1:c.1714+859T>C|||||||rs12628784||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29516170A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||18/20|XM_047441559.1:c.1681+859T>C|||||||rs12628784||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29516170A>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|47|-26|0|-26;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29372;gnomADv4_1_AC_joint_XX=15277;gnomADv4_1_AC_joint_XY=14095;gnomADv4_1_AF_grpmax_joint=0.424502;gnomADv4_1_AF_joint=0.196282;gnomADv4_1_AF_joint_XX=0.198966;gnomADv4_1_AF_joint_XY=0.193453;gnomADv4_1_AN_grpmax_joint=5020;gnomADv4_1_AN_joint=149642;gnomADv4_1_AN_joint_XX=76782;gnomADv4_1_AN_joint_XY=72860;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3251;gnomADv4_1_nhomalt_joint_XX=1692;gnomADv4_1_nhomalt_joint_XY=1559;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29516441 chr22_29516441_A_G A G 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.135;CADD_Rawscore=-0.531179;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||16/18|ENST00000358079.8:c.*1536+588T>C|||||||rs4608625||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29516441A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||17/19|ENST00000397871.5:c.1681+588T>C|||||||rs4608625||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29516441A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||18/20|ENST00000397872.5:c.1681+588T>C|||||||rs4608625||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29516441A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||18/20|ENST00000397873.6:c.1681+588T>C|||||||rs4608625||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29516441A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-2425T>C|||||||rs4608625||-1||||5||||||||Ensembl||A|A||||chr22:g.29516441A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||20/22|ENST00000442555.5:c.*768+588T>C|||||||rs4608625||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29516441A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000472164|retained_intron||||||||||rs4608625|4999|-1||HGNC|HGNC:19074|2||||||||Ensembl||A|A||||chr22:g.29516441A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs4608625|2565|-1||HGNC|HGNC:19074|5||||||||Ensembl||A|A||||chr22:g.29516441A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||17/19|ENST00000490103.6:c.1681+588T>C|||||||rs4608625||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29516441A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||18/20|NM_001002877.2:c.1681+588T>C|||||||rs4608625||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29516441A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||18/20|NM_001002878.1:c.1681+588T>C|||||||rs4608625||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29516441A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||17/19|NM_001002879.1:c.1681+588T>C|||||||rs4608625||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29516441A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||17/19|NM_003678.5:c.1681+588T>C|||||||rs4608625||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29516441A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||18/20|XM_005261797.2:c.1714+588T>C|||||||rs4608625||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29516441A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||19/21|XM_005261798.2:c.1714+588T>C|||||||rs4608625||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29516441A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||18/20|XM_005261799.2:c.1714+588T>C|||||||rs4608625||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29516441A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||8/10|XM_005261801.5:c.664+588T>C|||||||rs4608625||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||A|A||||chr22:g.29516441A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||19/21|XM_006724347.2:c.1714+588T>C|||||||rs4608625||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29516441A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||19/21|XM_047441558.1:c.1714+588T>C|||||||rs4608625||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29516441A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||18/20|XM_047441559.1:c.1681+588T>C|||||||rs4608625||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29516441A>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|-3|39|1|-9;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000472164,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30202;gnomADv4_1_AC_joint_XX=15581;gnomADv4_1_AC_joint_XY=14621;gnomADv4_1_AF_grpmax_joint=0.429981;gnomADv4_1_AF_joint=0.198423;gnomADv4_1_AF_joint_XX=0.200265;gnomADv4_1_AF_joint_XY=0.196498;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152210;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3348;gnomADv4_1_nhomalt_joint_XX=1727;gnomADv4_1_nhomalt_joint_XY=1621;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29516896 chr22_29516896_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=3.872;CADD_Rawscore=0.353868;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||16/18|ENST00000358079.8:c.*1536+133C>T|||||||rs12161054||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29516896G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||17/19|ENST00000397871.5:c.1681+133C>T|||||||rs12161054||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29516896G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||18/20|ENST00000397872.5:c.1681+133C>T|||||||rs12161054||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29516896G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||18/20|ENST00000397873.6:c.1681+133C>T|||||||rs12161054||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29516896G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-2880C>T|||||||rs12161054||-1||||5||||||||Ensembl||G|G||||chr22:g.29516896G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||20/22|ENST00000442555.5:c.*768+133C>T|||||||rs12161054||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29516896G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs12161054|2110|-1||HGNC|HGNC:19074|5||||||||Ensembl||G|G||||chr22:g.29516896G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||17/19|ENST00000490103.6:c.1681+133C>T|||||||rs12161054||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29516896G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||18/20|NM_001002877.2:c.1681+133C>T|||||||rs12161054||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29516896G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||18/20|NM_001002878.1:c.1681+133C>T|||||||rs12161054||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29516896G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||17/19|NM_001002879.1:c.1681+133C>T|||||||rs12161054||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29516896G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||17/19|NM_003678.5:c.1681+133C>T|||||||rs12161054||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29516896G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||18/20|XM_005261797.2:c.1714+133C>T|||||||rs12161054||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29516896G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||19/21|XM_005261798.2:c.1714+133C>T|||||||rs12161054||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29516896G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||18/20|XM_005261799.2:c.1714+133C>T|||||||rs12161054||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29516896G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||8/10|XM_005261801.5:c.664+133C>T|||||||rs12161054||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||G|G||||chr22:g.29516896G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||19/21|XM_006724347.2:c.1714+133C>T|||||||rs12161054||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29516896G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||19/21|XM_047441558.1:c.1714+133C>T|||||||rs12161054||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29516896G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||18/20|XM_047441559.1:c.1681+133C>T|||||||rs12161054||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29516896G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|13|20|21|9;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=197391;gnomADv4_1_AC_joint_XX=97544;gnomADv4_1_AC_joint_XY=99847;gnomADv4_1_AF_grpmax_joint=0.293868;gnomADv4_1_AF_joint=0.255608;gnomADv4_1_AF_joint_XX=0.263103;gnomADv4_1_AF_joint_XY=0.248687;gnomADv4_1_AN_grpmax_joint=38684;gnomADv4_1_AN_joint=772240;gnomADv4_1_AN_joint_XX=370744;gnomADv4_1_AN_joint_XY=401496;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=26495;gnomADv4_1_nhomalt_joint_XX=13255;gnomADv4_1_nhomalt_joint_XY=13240;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29517283 chr22_29517283_C_T C T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;AlphaMissense_class=likely_benign;AlphaMissense_pathogenicity=0.0639;AlphaMissense_protein_variant=V525I;AlphaMissense_transcript_id=ENST00000397873.6;AlphaMissense_uniprot_id=Q13769;CADD_PHREDscore=0.061;CADD_Rawscore=-0.745173;CSQ=T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay|15/19||ENST00000358079.8:c.*1428G>A||1822|||||rs737976||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29517283C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding|16/20||ENST00000397871.5:c.1573G>A|ENSP00000380969.1:p.Val525Ile|1792|1573|525|V/I|Gtt/Att|rs737976||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29517283C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding|17/21||ENST00000397872.5:c.1573G>A|ENSP00000380970.1:p.Val525Ile|1908|1573|525|V/I|Gtt/Att|rs737976||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29517283C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding|17/21||ENST00000397873.6:c.1573G>A|ENSP00000380971.2:p.Val525Ile|1796|1573|525|V/I|Gtt/Att|rs737976||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29517283C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-3267G>A|||||||rs737976||-1||||5||||||||Ensembl||C|C||||chr22:g.29517283C>T|||||||||||||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay|19/23||ENST00000442555.5:c.*660G>A||2403|||||rs737976||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29517283C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs737976|1723|-1||HGNC|HGNC:19074|5||||||||Ensembl||C|C||||chr22:g.29517283C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding|16/20||ENST00000490103.6:c.1573G>A|ENSP00000420306.1:p.Val525Ile|1671|1573|525|V/I|Gtt/Att|rs737976||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29517283C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|NM_001002877.2|protein_coding|17/21||NM_001002877.2:c.1573G>A|NP_001002877.1:p.Val525Ile|1787|1573|525|V/I|Gtt/Att|rs737976||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29517283C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|NM_001002878.1|protein_coding|17/21||NM_001002878.1:c.1573G>A|NP_001002878.1:p.Val525Ile|1908|1573|525|V/I|Gtt/Att|rs737976||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29517283C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|NM_001002879.1|protein_coding|16/20||NM_001002879.1:c.1573G>A|NP_001002879.1:p.Val525Ile|1792|1573|525|V/I|Gtt/Att|rs737976||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29517283C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|NM_003678.5|protein_coding|16/20||NM_003678.5:c.1573G>A|NP_003669.4:p.Val525Ile|1671|1573|525|V/I|Gtt/Att|rs737976||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29517283C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|XM_005261797.2|protein_coding|17/21||XM_005261797.2:c.1606G>A|XP_005261854.1:p.Val536Ile|1704|1606|536|V/I|Gtt/Att|rs737976||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29517283C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|XM_005261798.2|protein_coding|18/22||XM_005261798.2:c.1606G>A|XP_005261855.1:p.Val536Ile|1820|1606|536|V/I|Gtt/Att|rs737976||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29517283C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|XM_005261799.2|protein_coding|17/21||XM_005261799.2:c.1606G>A|XP_005261856.1:p.Val536Ile|1825|1606|536|V/I|Gtt/Att|rs737976||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29517283C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|XM_005261801.5|protein_coding|7/11||XM_005261801.5:c.556G>A|XP_005261858.1:p.Val186Ile|719|556|186|V/I|Gtt/Att|rs737976||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||C|C||||chr22:g.29517283C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|XM_006724347.2|protein_coding|18/22||XM_006724347.2:c.1606G>A|XP_006724410.1:p.Val536Ile|1941|1606|536|V/I|Gtt/Att|rs737976||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29517283C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|XM_047441558.1|protein_coding|18/22||XM_047441558.1:c.1606G>A|XP_047297514.1:p.Val536Ile|1933|1606|536|V/I|Gtt/Att|rs737976||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29517283C>T|||||||||||||,T|missense_variant|MODERATE|THOC5|8563|Transcript|XM_047441559.1|protein_coding|17/21||XM_047441559.1:c.1573G>A|XP_047297515.1:p.Val525Ile|1900|1573|525|V/I|Gtt/Att|rs737976||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29517283C>T|||||||||||||;REVEL_score=0.013;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-12|30|31|-20;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=791956;gnomADv4_1_AC_joint_XX=404018;gnomADv4_1_AC_joint_XY=387938;gnomADv4_1_AF_grpmax_joint=0.758465;gnomADv4_1_AF_joint=0.49097;gnomADv4_1_AF_joint_XX=0.497595;gnomADv4_1_AF_joint_XY=0.484255;gnomADv4_1_AN_grpmax_joint=44834;gnomADv4_1_AN_joint=1613044;gnomADv4_1_AN_joint_XX=811942;gnomADv4_1_AN_joint_XY=801102;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=199462;gnomADv4_1_nhomalt_joint_XX=102667;gnomADv4_1_nhomalt_joint_XY=96795;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29517583 chr22_29517583_T_C T C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.935;CADD_Rawscore=0.155167;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||14/18|ENST00000358079.8:c.*1345-217A>G|||||||rs2074951||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29517583T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||15/19|ENST00000397871.5:c.1490-217A>G|||||||rs2074951||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29517583T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||16/20|ENST00000397872.5:c.1490-217A>G|||||||rs2074951||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29517583T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||16/20|ENST00000397873.6:c.1490-217A>G|||||||rs2074951||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29517583T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-3567A>G|||||||rs2074951||-1||||5||||||||Ensembl||T|T||||chr22:g.29517583T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||18/22|ENST00000442555.5:c.*577-217A>G|||||||rs2074951||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29517583T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs2074951|1423|-1||HGNC|HGNC:19074|5||||||||Ensembl||T|T||||chr22:g.29517583T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||15/19|ENST00000490103.6:c.1490-217A>G|||||||rs2074951||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29517583T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||16/20|NM_001002877.2:c.1490-217A>G|||||||rs2074951||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29517583T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||16/20|NM_001002878.1:c.1490-217A>G|||||||rs2074951||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29517583T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||15/19|NM_001002879.1:c.1490-217A>G|||||||rs2074951||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29517583T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||15/19|NM_003678.5:c.1490-217A>G|||||||rs2074951||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29517583T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||16/20|XM_005261797.2:c.1523-217A>G|||||||rs2074951||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29517583T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||17/21|XM_005261798.2:c.1523-217A>G|||||||rs2074951||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29517583T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||16/20|XM_005261799.2:c.1523-217A>G|||||||rs2074951||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29517583T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||6/10|XM_005261801.5:c.473-217A>G|||||||rs2074951||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||T|T||||chr22:g.29517583T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||17/21|XM_006724347.2:c.1523-217A>G|||||||rs2074951||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29517583T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||17/21|XM_047441558.1:c.1523-217A>G|||||||rs2074951||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29517583T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||16/20|XM_047441559.1:c.1490-217A>G|||||||rs2074951||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29517583T>C|||||||||||||;SpliceAI=C|THOC5|0.02|0.00|0.01|0.00|41|-2|-36|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26934;gnomADv4_1_AC_joint_XX=14214;gnomADv4_1_AC_joint_XY=12720;gnomADv4_1_AF_grpmax_joint=0.238095;gnomADv4_1_AF_joint=0.176906;gnomADv4_1_AF_joint_XX=0.18269;gnomADv4_1_AF_joint_XY=0.170862;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152250;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2621;gnomADv4_1_nhomalt_joint_XX=1429;gnomADv4_1_nhomalt_joint_XY=1192;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29517812 chr22_29517812_A_C A C 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=8.655;CADD_Rawscore=0.838629;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||14/18|ENST00000358079.8:c.*1345-446T>G|||||||rs2008880||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29517812A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||15/19|ENST00000397871.5:c.1490-446T>G|||||||rs2008880||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29517812A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||16/20|ENST00000397872.5:c.1490-446T>G|||||||rs2008880||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29517812A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||16/20|ENST00000397873.6:c.1490-446T>G|||||||rs2008880||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29517812A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-3796T>G|||||||rs2008880||-1||||5||||||||Ensembl||A|A||||chr22:g.29517812A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||18/22|ENST00000442555.5:c.*577-446T>G|||||||rs2008880||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29517812A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs2008880|1194|-1||HGNC|HGNC:19074|5||||||||Ensembl||A|A||||chr22:g.29517812A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||15/19|ENST00000490103.6:c.1490-446T>G|||||||rs2008880||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29517812A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||16/20|NM_001002877.2:c.1490-446T>G|||||||rs2008880||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29517812A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||16/20|NM_001002878.1:c.1490-446T>G|||||||rs2008880||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29517812A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||15/19|NM_001002879.1:c.1490-446T>G|||||||rs2008880||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29517812A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||15/19|NM_003678.5:c.1490-446T>G|||||||rs2008880||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29517812A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||16/20|XM_005261797.2:c.1523-446T>G|||||||rs2008880||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29517812A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||17/21|XM_005261798.2:c.1523-446T>G|||||||rs2008880||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29517812A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||16/20|XM_005261799.2:c.1523-446T>G|||||||rs2008880||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29517812A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||6/10|XM_005261801.5:c.473-446T>G|||||||rs2008880||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||A|A||||chr22:g.29517812A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||17/21|XM_006724347.2:c.1523-446T>G|||||||rs2008880||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29517812A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||17/21|XM_047441558.1:c.1523-446T>G|||||||rs2008880||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29517812A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||16/20|XM_047441559.1:c.1490-446T>G|||||||rs2008880||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29517812A>C|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|50|-13|50|31;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=136186;gnomADv4_1_AC_joint_XX=69776;gnomADv4_1_AC_joint_XY=66410;gnomADv4_1_AF_grpmax_joint=0.97105;gnomADv4_1_AF_joint=0.894548;gnomADv4_1_AF_joint_XX=0.896495;gnomADv4_1_AF_joint_XY=0.892512;gnomADv4_1_AN_grpmax_joint=41554;gnomADv4_1_AN_joint=152240;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=61160;gnomADv4_1_nhomalt_joint_XX=31412;gnomADv4_1_nhomalt_joint_XY=29748;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29519155 chr22_29519155_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=3.755;CADD_Rawscore=0.343478;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||13/18|ENST00000358079.8:c.*1230-35G>A|||||||rs2072301||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29519155C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||14/19|ENST00000397871.5:c.1375-35G>A|||||||rs2072301||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29519155C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||15/20|ENST00000397872.5:c.1375-35G>A|||||||rs2072301||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29519155C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||15/20|ENST00000397873.6:c.1375-35G>A|||||||rs2072301||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29519155C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-5139G>A|||||||rs2072301||-1||||5||||||||Ensembl||C|C||||chr22:g.29519155C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||17/22|ENST00000442555.5:c.*462-35G>A|||||||rs2072301||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29519155C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||7/7|ENST00000484924.5:n.795-35G>A|||||||rs2072301||-1||HGNC|HGNC:19074|5||||||||Ensembl||C|C||||chr22:g.29519155C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||14/19|ENST00000490103.6:c.1375-35G>A|||||||rs2072301||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29519155C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||15/20|NM_001002877.2:c.1375-35G>A|||||||rs2072301||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29519155C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||15/20|NM_001002878.1:c.1375-35G>A|||||||rs2072301||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29519155C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||14/19|NM_001002879.1:c.1375-35G>A|||||||rs2072301||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29519155C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||14/19|NM_003678.5:c.1375-35G>A|||||||rs2072301||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29519155C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||15/20|XM_005261797.2:c.1408-35G>A|||||||rs2072301||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29519155C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||16/21|XM_005261798.2:c.1408-35G>A|||||||rs2072301||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29519155C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||15/20|XM_005261799.2:c.1408-35G>A|||||||rs2072301||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29519155C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||5/10|XM_005261801.5:c.358-35G>A|||||||rs2072301||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||C|C||||chr22:g.29519155C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||16/21|XM_006724347.2:c.1408-35G>A|||||||rs2072301||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29519155C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||16/21|XM_047441558.1:c.1408-35G>A|||||||rs2072301||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29519155C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||15/20|XM_047441559.1:c.1375-35G>A|||||||rs2072301||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29519155C>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-35|-42|-9|44;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=378814;gnomADv4_1_AC_joint_XX=193932;gnomADv4_1_AC_joint_XY=184882;gnomADv4_1_AF_grpmax_joint=0.295231;gnomADv4_1_AF_joint=0.265418;gnomADv4_1_AF_joint_XX=0.270851;gnomADv4_1_AF_joint_XY=0.259948;gnomADv4_1_AN_grpmax_joint=42360;gnomADv4_1_AN_joint=1427238;gnomADv4_1_AN_joint_XX=716010;gnomADv4_1_AN_joint_XY=711228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=52299;gnomADv4_1_nhomalt_joint_XX=27017;gnomADv4_1_nhomalt_joint_XY=25282;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29519417 chr22_29519417_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.274;CADD_Rawscore=0.300149;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||13/18|ENST00000358079.8:c.*1230-297T>C|||||||rs5763294||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29519417A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||14/19|ENST00000397871.5:c.1375-297T>C|||||||rs5763294||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29519417A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||15/20|ENST00000397872.5:c.1375-297T>C|||||||rs5763294||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29519417A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||15/20|ENST00000397873.6:c.1375-297T>C|||||||rs5763294||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29519417A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-5401T>C|||||||rs5763294||-1||||5||||||||Ensembl||A|A||||chr22:g.29519417A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||17/22|ENST00000442555.5:c.*462-297T>C|||||||rs5763294||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29519417A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||7/7|ENST00000484924.5:n.795-297T>C|||||||rs5763294||-1||HGNC|HGNC:19074|5||||||||Ensembl||A|A||||chr22:g.29519417A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||14/19|ENST00000490103.6:c.1375-297T>C|||||||rs5763294||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29519417A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||15/20|NM_001002877.2:c.1375-297T>C|||||||rs5763294||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29519417A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||15/20|NM_001002878.1:c.1375-297T>C|||||||rs5763294||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29519417A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||14/19|NM_001002879.1:c.1375-297T>C|||||||rs5763294||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29519417A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||14/19|NM_003678.5:c.1375-297T>C|||||||rs5763294||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29519417A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||15/20|XM_005261797.2:c.1408-297T>C|||||||rs5763294||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29519417A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||16/21|XM_005261798.2:c.1408-297T>C|||||||rs5763294||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29519417A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||15/20|XM_005261799.2:c.1408-297T>C|||||||rs5763294||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29519417A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||5/10|XM_005261801.5:c.358-297T>C|||||||rs5763294||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||A|A||||chr22:g.29519417A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||16/21|XM_006724347.2:c.1408-297T>C|||||||rs5763294||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29519417A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||16/21|XM_047441558.1:c.1408-297T>C|||||||rs5763294||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29519417A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||15/20|XM_047441559.1:c.1375-297T>C|||||||rs5763294||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29519417A>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|23|-29|4|0;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73595;gnomADv4_1_AC_joint_XX=38216;gnomADv4_1_AC_joint_XY=35379;gnomADv4_1_AF_grpmax_joint=0.744874;gnomADv4_1_AF_joint=0.483573;gnomADv4_1_AF_joint_XX=0.491322;gnomADv4_1_AF_joint_XY=0.475473;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152190;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17948;gnomADv4_1_nhomalt_joint_XX=9415;gnomADv4_1_nhomalt_joint_XY=8533;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29519634 chr22_29519634_C_CT C CT 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=3.562;CADDIndel_Rawscore=0.326231;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||13/18|ENST00000358079.8:c.*1229+373dup|||||||rs34656123||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl|||||||chr22:g.29519649dup|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||14/19|ENST00000397871.5:c.1374+373dup|||||||rs34656123||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29519649dup|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||15/20|ENST00000397872.5:c.1374+373dup|||||||rs34656123||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29519649dup|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||15/20|ENST00000397873.6:c.1374+373dup|||||||rs34656123||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29519649dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-5619dup|||||||rs34656123||-1||||5||||||||Ensembl|||||||chr22:g.29519649dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||17/22|ENST00000442555.5:c.*461+373dup|||||||rs34656123||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl|||||||chr22:g.29519649dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||7/7|ENST00000484924.5:n.794+373dup|||||||rs34656123||-1||HGNC|HGNC:19074|5||||||||Ensembl|||||||chr22:g.29519649dup|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||14/19|ENST00000490103.6:c.1374+373dup|||||||rs34656123||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29519649dup|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||15/20|NM_001002877.2:c.1374+373dup|||||||rs34656123||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq|||||||chr22:g.29519649dup|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||15/20|NM_001002878.1:c.1374+373dup|||||||rs34656123||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||||OK|||chr22:g.29519649dup|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||14/19|NM_001002879.1:c.1374+373dup|||||||rs34656123||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||||OK|||chr22:g.29519649dup|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||14/19|NM_003678.5:c.1374+373dup|||||||rs34656123||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq|||||||chr22:g.29519649dup|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||15/20|XM_005261797.2:c.1407+373dup|||||||rs34656123||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq|||||||chr22:g.29519649dup|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||16/21|XM_005261798.2:c.1407+373dup|||||||rs34656123||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq|||||||chr22:g.29519649dup|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||15/20|XM_005261799.2:c.1407+373dup|||||||rs34656123||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq|||||||chr22:g.29519649dup|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||5/10|XM_005261801.5:c.357+373dup|||||||rs34656123||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq|||||||chr22:g.29519649dup|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||16/21|XM_006724347.2:c.1407+373dup|||||||rs34656123||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq|||||||chr22:g.29519649dup|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||16/21|XM_047441558.1:c.1407+373dup|||||||rs34656123||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq|||||||chr22:g.29519649dup|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||15/20|XM_047441559.1:c.1374+373dup|||||||rs34656123||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq|||||||chr22:g.29519649dup|||||||||||||;SpliceAI=CT|THOC5|0.00|0.00|0.00|0.00|-1|-50|0|-1;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33815;gnomADv4_1_AC_joint_XX=17436;gnomADv4_1_AC_joint_XY=16379;gnomADv4_1_AF_grpmax_joint=0.674969;gnomADv4_1_AF_joint=0.240184;gnomADv4_1_AF_joint_XX=0.239013;gnomADv4_1_AF_joint_XY=0.241443;gnomADv4_1_AN_grpmax_joint=4778;gnomADv4_1_AN_joint=140788;gnomADv4_1_AN_joint_XX=72950;gnomADv4_1_AN_joint_XY=67838;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4492;gnomADv4_1_nhomalt_joint_XX=2264;gnomADv4_1_nhomalt_joint_XY=2228;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29519808 chr22_29519808_A_G A G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=4.89;CADD_Rawscore=0.445639;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||13/18|ENST00000358079.8:c.*1229+200T>C|||||||rs2270077||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29519808A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||14/19|ENST00000397871.5:c.1374+200T>C|||||||rs2270077||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29519808A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||15/20|ENST00000397872.5:c.1374+200T>C|||||||rs2270077||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29519808A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||15/20|ENST00000397873.6:c.1374+200T>C|||||||rs2270077||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29519808A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-5792T>C|||||||rs2270077||-1||||5||||||||Ensembl||A|A||||chr22:g.29519808A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||17/22|ENST00000442555.5:c.*461+200T>C|||||||rs2270077||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29519808A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||7/7|ENST00000484924.5:n.794+200T>C|||||||rs2270077||-1||HGNC|HGNC:19074|5||||||||Ensembl||A|A||||chr22:g.29519808A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||14/19|ENST00000490103.6:c.1374+200T>C|||||||rs2270077||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29519808A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||15/20|NM_001002877.2:c.1374+200T>C|||||||rs2270077||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29519808A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||15/20|NM_001002878.1:c.1374+200T>C|||||||rs2270077||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29519808A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||14/19|NM_001002879.1:c.1374+200T>C|||||||rs2270077||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29519808A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||14/19|NM_003678.5:c.1374+200T>C|||||||rs2270077||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29519808A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||15/20|XM_005261797.2:c.1407+200T>C|||||||rs2270077||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29519808A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||16/21|XM_005261798.2:c.1407+200T>C|||||||rs2270077||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29519808A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||15/20|XM_005261799.2:c.1407+200T>C|||||||rs2270077||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29519808A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||5/10|XM_005261801.5:c.357+200T>C|||||||rs2270077||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||A|A||||chr22:g.29519808A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||16/21|XM_006724347.2:c.1407+200T>C|||||||rs2270077||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29519808A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||16/21|XM_047441558.1:c.1407+200T>C|||||||rs2270077||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29519808A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||15/20|XM_047441559.1:c.1374+200T>C|||||||rs2270077||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29519808A>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|-13|-45|-18|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38640;gnomADv4_1_AC_joint_XX=20147;gnomADv4_1_AC_joint_XY=18493;gnomADv4_1_AF_grpmax_joint=0.315606;gnomADv4_1_AF_joint=0.254912;gnomADv4_1_AF_joint_XX=0.259874;gnomADv4_1_AF_joint_XY=0.249716;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151582;gnomADv4_1_AN_joint_XX=77526;gnomADv4_1_AN_joint_XY=74056;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4983;gnomADv4_1_nhomalt_joint_XX=2621;gnomADv4_1_nhomalt_joint_XY=2362;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29522194 chr22_29522194_CA_C CA C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.201;CADDIndel_Rawscore=-0.425534;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||11/18|ENST00000358079.8:c.*1031-1096del|||||||rs34045670||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29522210del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||12/19|ENST00000397871.5:c.1176-1096del|||||||rs34045670||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29522210del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||13/20|ENST00000397872.5:c.1176-1096del|||||||rs34045670||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29522210del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||13/20|ENST00000397873.6:c.1176-1096del|||||||rs34045670||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29522210del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-8179del|||||||rs34045670||-1||||5||||||||Ensembl||A|A||||chr22:g.29522210del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||15/22|ENST00000442555.5:c.*263-1096del|||||||rs34045670||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29522210del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs34045670|3643|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||A|A||||chr22:g.29522210del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||5/7|ENST00000484924.5:n.596-1096del|||||||rs34045670||-1||HGNC|HGNC:19074|5||||||||Ensembl||A|A||||chr22:g.29522210del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||12/19|ENST00000490103.6:c.1176-1096del|||||||rs34045670||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29522210del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||13/20|NM_001002877.2:c.1176-1096del|||||||rs34045670||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29522210del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||13/20|NM_001002878.1:c.1176-1096del|||||||rs34045670||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29522210del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||12/19|NM_001002879.1:c.1176-1096del|||||||rs34045670||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29522210del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||12/19|NM_003678.5:c.1176-1096del|||||||rs34045670||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29522210del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||13/20|XM_005261797.2:c.1209-1096del|||||||rs34045670||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29522210del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||14/21|XM_005261798.2:c.1209-1096del|||||||rs34045670||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29522210del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||13/20|XM_005261799.2:c.1209-1096del|||||||rs34045670||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29522210del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||3/10|XM_005261801.5:c.159-1096del|||||||rs34045670||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||A|A||||chr22:g.29522210del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||14/21|XM_006724347.2:c.1209-1096del|||||||rs34045670||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29522210del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||14/21|XM_047441558.1:c.1209-1096del|||||||rs34045670||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29522210del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||13/20|XM_047441559.1:c.1176-1096del|||||||rs34045670||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29522210del|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|20|-10|-10|22;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000443089,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39619;gnomADv4_1_AC_joint_XX=20674;gnomADv4_1_AC_joint_XY=18945;gnomADv4_1_AF_grpmax_joint=0.662438;gnomADv4_1_AF_joint=0.2881;gnomADv4_1_AF_joint_XX=0.289098;gnomADv4_1_AF_joint_XY=0.287019;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=137518;gnomADv4_1_AN_joint_XX=71512;gnomADv4_1_AN_joint_XY=66006;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5751;gnomADv4_1_nhomalt_joint_XX=2990;gnomADv4_1_nhomalt_joint_XY=2761;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29522367 chr22_29522367_TAAATA_T TAAATA T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.708;CADDIndel_Rawscore=-0.106095;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||11/18|ENST00000358079.8:c.*1031-1273_*1031-1269del|||||||rs149441641||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||12/19|ENST00000397871.5:c.1176-1273_1176-1269del|||||||rs149441641||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||13/20|ENST00000397872.5:c.1176-1273_1176-1269del|||||||rs149441641||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||13/20|ENST00000397873.6:c.1176-1273_1176-1269del|||||||rs149441641||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-8356_162-8352del|||||||rs149441641||-1||||5||||||||Ensembl||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||15/22|ENST00000442555.5:c.*263-1273_*263-1269del|||||||rs149441641||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs149441641|3466|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||5/7|ENST00000484924.5:n.596-1273_596-1269del|||||||rs149441641||-1||HGNC|HGNC:19074|5||||||||Ensembl||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||12/19|ENST00000490103.6:c.1176-1273_1176-1269del|||||||rs149441641||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||13/20|NM_001002877.2:c.1176-1273_1176-1269del|||||||rs149441641||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||13/20|NM_001002878.1:c.1176-1273_1176-1269del|||||||rs149441641||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||AAATA|AAATA|OK|||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||12/19|NM_001002879.1:c.1176-1273_1176-1269del|||||||rs149441641||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||AAATA|AAATA|OK|||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||12/19|NM_003678.5:c.1176-1273_1176-1269del|||||||rs149441641||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||13/20|XM_005261797.2:c.1209-1273_1209-1269del|||||||rs149441641||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||14/21|XM_005261798.2:c.1209-1273_1209-1269del|||||||rs149441641||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||13/20|XM_005261799.2:c.1209-1273_1209-1269del|||||||rs149441641||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||3/10|XM_005261801.5:c.159-1273_159-1269del|||||||rs149441641||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||14/21|XM_006724347.2:c.1209-1273_1209-1269del|||||||rs149441641||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||14/21|XM_047441558.1:c.1209-1273_1209-1269del|||||||rs149441641||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||13/20|XM_047441559.1:c.1176-1273_1176-1269del|||||||rs149441641||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||AAATA|AAATA||||chr22:g.29522396_29522400del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000443089,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27236;gnomADv4_1_AC_joint_XX=14390;gnomADv4_1_AC_joint_XY=12846;gnomADv4_1_AF_grpmax_joint=0.236111;gnomADv4_1_AF_joint=0.18239;gnomADv4_1_AF_joint_XX=0.188267;gnomADv4_1_AF_joint_XY=0.176228;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=149328;gnomADv4_1_AN_joint_XX=76434;gnomADv4_1_AN_joint_XY=72894;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2623;gnomADv4_1_nhomalt_joint_XX=1420;gnomADv4_1_nhomalt_joint_XY=1203;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29522493 chr22_29522493_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.099;CADD_Rawscore=-0.613736;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||11/18|ENST00000358079.8:c.*1031-1394G>A|||||||rs11704899||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29522493C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||12/19|ENST00000397871.5:c.1176-1394G>A|||||||rs11704899||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29522493C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||13/20|ENST00000397872.5:c.1176-1394G>A|||||||rs11704899||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29522493C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||13/20|ENST00000397873.6:c.1176-1394G>A|||||||rs11704899||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29522493C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-8477G>A|||||||rs11704899||-1||||5||||||||Ensembl||C|C||||chr22:g.29522493C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||15/22|ENST00000442555.5:c.*263-1394G>A|||||||rs11704899||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29522493C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs11704899|3345|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||C|C||||chr22:g.29522493C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||5/7|ENST00000484924.5:n.596-1394G>A|||||||rs11704899||-1||HGNC|HGNC:19074|5||||||||Ensembl||C|C||||chr22:g.29522493C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||12/19|ENST00000490103.6:c.1176-1394G>A|||||||rs11704899||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29522493C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||13/20|NM_001002877.2:c.1176-1394G>A|||||||rs11704899||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29522493C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||13/20|NM_001002878.1:c.1176-1394G>A|||||||rs11704899||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29522493C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||12/19|NM_001002879.1:c.1176-1394G>A|||||||rs11704899||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29522493C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||12/19|NM_003678.5:c.1176-1394G>A|||||||rs11704899||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29522493C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||13/20|XM_005261797.2:c.1209-1394G>A|||||||rs11704899||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29522493C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||14/21|XM_005261798.2:c.1209-1394G>A|||||||rs11704899||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29522493C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||13/20|XM_005261799.2:c.1209-1394G>A|||||||rs11704899||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29522493C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||3/10|XM_005261801.5:c.159-1394G>A|||||||rs11704899||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||C|C||||chr22:g.29522493C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||14/21|XM_006724347.2:c.1209-1394G>A|||||||rs11704899||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29522493C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||14/21|XM_047441558.1:c.1209-1394G>A|||||||rs11704899||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29522493C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||13/20|XM_047441559.1:c.1176-1394G>A|||||||rs11704899||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29522493C>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-39|1|-3|42;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000443089,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17576;gnomADv4_1_AC_joint_XX=9307;gnomADv4_1_AC_joint_XY=8269;gnomADv4_1_AF_grpmax_joint=0.170068;gnomADv4_1_AF_joint=0.11558;gnomADv4_1_AF_joint_XX=0.119738;gnomADv4_1_AF_joint_XY=0.111232;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1265;gnomADv4_1_nhomalt_joint_XX=700;gnomADv4_1_nhomalt_joint_XY=565;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29523212 chr22_29523212_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.147;CADD_Rawscore=0.182822;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||11/18|ENST00000358079.8:c.*1031-2113C>T|||||||rs5763295||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29523212G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||12/19|ENST00000397871.5:c.1176-2113C>T|||||||rs5763295||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29523212G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||13/20|ENST00000397872.5:c.1176-2113C>T|||||||rs5763295||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29523212G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||13/20|ENST00000397873.6:c.1176-2113C>T|||||||rs5763295||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29523212G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-9196C>T|||||||rs5763295||-1||||5||||||||Ensembl||G|G||||chr22:g.29523212G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||15/22|ENST00000442555.5:c.*263-2113C>T|||||||rs5763295||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29523212G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs5763295|2626|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29523212G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||5/7|ENST00000484924.5:n.596-2113C>T|||||||rs5763295||-1||HGNC|HGNC:19074|5||||||||Ensembl||G|G||||chr22:g.29523212G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||12/19|ENST00000490103.6:c.1176-2113C>T|||||||rs5763295||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29523212G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||13/20|NM_001002877.2:c.1176-2113C>T|||||||rs5763295||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29523212G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||13/20|NM_001002878.1:c.1176-2113C>T|||||||rs5763295||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29523212G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||12/19|NM_001002879.1:c.1176-2113C>T|||||||rs5763295||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29523212G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||12/19|NM_003678.5:c.1176-2113C>T|||||||rs5763295||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29523212G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||13/20|XM_005261797.2:c.1209-2113C>T|||||||rs5763295||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29523212G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||14/21|XM_005261798.2:c.1209-2113C>T|||||||rs5763295||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29523212G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||13/20|XM_005261799.2:c.1209-2113C>T|||||||rs5763295||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29523212G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||3/10|XM_005261801.5:c.159-2113C>T|||||||rs5763295||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||G|G||||chr22:g.29523212G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||14/21|XM_006724347.2:c.1209-2113C>T|||||||rs5763295||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29523212G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||14/21|XM_047441558.1:c.1209-2113C>T|||||||rs5763295||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29523212G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||13/20|XM_047441559.1:c.1176-2113C>T|||||||rs5763295||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29523212G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|28|23|7|-11;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000443089,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68773;gnomADv4_1_AC_joint_XX=35720;gnomADv4_1_AC_joint_XY=33053;gnomADv4_1_AF_grpmax_joint=0.746988;gnomADv4_1_AF_joint=0.457097;gnomADv4_1_AF_joint_XX=0.463631;gnomADv4_1_AF_joint_XY=0.45024;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=150456;gnomADv4_1_AN_joint_XX=77044;gnomADv4_1_AN_joint_XY=73412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16077;gnomADv4_1_nhomalt_joint_XX=8456;gnomADv4_1_nhomalt_joint_XY=7621;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29523344 chr22_29523344_T_C T C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.18;CADD_Rawscore=-0.454875;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||11/18|ENST00000358079.8:c.*1031-2245A>G|||||||rs5763296||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29523344T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||12/19|ENST00000397871.5:c.1176-2245A>G|||||||rs5763296||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29523344T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||13/20|ENST00000397872.5:c.1176-2245A>G|||||||rs5763296||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29523344T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||13/20|ENST00000397873.6:c.1176-2245A>G|||||||rs5763296||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29523344T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-9328A>G|||||||rs5763296||-1||||5||||||||Ensembl||T|T||||chr22:g.29523344T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||15/22|ENST00000442555.5:c.*263-2245A>G|||||||rs5763296||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29523344T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs5763296|2494|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||T|T||||chr22:g.29523344T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||5/7|ENST00000484924.5:n.596-2245A>G|||||||rs5763296||-1||HGNC|HGNC:19074|5||||||||Ensembl||T|T||||chr22:g.29523344T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||12/19|ENST00000490103.6:c.1176-2245A>G|||||||rs5763296||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29523344T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||13/20|NM_001002877.2:c.1176-2245A>G|||||||rs5763296||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29523344T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||13/20|NM_001002878.1:c.1176-2245A>G|||||||rs5763296||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29523344T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||12/19|NM_001002879.1:c.1176-2245A>G|||||||rs5763296||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29523344T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||12/19|NM_003678.5:c.1176-2245A>G|||||||rs5763296||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29523344T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||13/20|XM_005261797.2:c.1209-2245A>G|||||||rs5763296||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29523344T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||14/21|XM_005261798.2:c.1209-2245A>G|||||||rs5763296||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29523344T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||13/20|XM_005261799.2:c.1209-2245A>G|||||||rs5763296||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29523344T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||3/10|XM_005261801.5:c.159-2245A>G|||||||rs5763296||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||T|T||||chr22:g.29523344T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||14/21|XM_006724347.2:c.1209-2245A>G|||||||rs5763296||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29523344T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||14/21|XM_047441558.1:c.1209-2245A>G|||||||rs5763296||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29523344T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||13/20|XM_047441559.1:c.1176-2245A>G|||||||rs5763296||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29523344T>C|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|42|-30|34|20;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000443089,ENST00000484924,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68889;gnomADv4_1_AC_joint_XX=35751;gnomADv4_1_AC_joint_XY=33138;gnomADv4_1_AF_grpmax_joint=0.746332;gnomADv4_1_AF_joint=0.453193;gnomADv4_1_AF_joint_XX=0.46008;gnomADv4_1_AF_joint_XY=0.445991;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16100;gnomADv4_1_nhomalt_joint_XX=8456;gnomADv4_1_nhomalt_joint_XY=7644;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29523841 chr22_29523841_T_C T C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.317;CADD_Rawscore=0.053935;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||11/18|ENST00000358079.8:c.*1030+1997A>G|||||||rs737977||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29523841T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||12/19|ENST00000397871.5:c.1175+1997A>G|||||||rs737977||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29523841T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||13/20|ENST00000397872.5:c.1175+1997A>G|||||||rs737977||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29523841T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||13/20|ENST00000397873.6:c.1175+1997A>G|||||||rs737977||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29523841T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.162-9825A>G|||||||rs737977||-1||||5||||||||Ensembl||T|T||||chr22:g.29523841T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||15/22|ENST00000442555.5:c.*262+1997A>G|||||||rs737977||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29523841T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs737977|1997|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||T|T||||chr22:g.29523841T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||5/7|ENST00000484924.5:n.595+1997A>G|||||||rs737977||-1||HGNC|HGNC:19074|5||||||||Ensembl||T|T||||chr22:g.29523841T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||12/19|ENST00000490103.6:c.1175+1997A>G|||||||rs737977||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29523841T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs737977|4542|-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29523841T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||13/20|NM_001002877.2:c.1175+1997A>G|||||||rs737977||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29523841T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||13/20|NM_001002878.1:c.1175+1997A>G|||||||rs737977||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29523841T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||12/19|NM_001002879.1:c.1175+1997A>G|||||||rs737977||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29523841T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||12/19|NM_003678.5:c.1175+1997A>G|||||||rs737977||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29523841T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||13/20|XM_005261797.2:c.1208+1997A>G|||||||rs737977||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29523841T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||14/21|XM_005261798.2:c.1208+1997A>G|||||||rs737977||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29523841T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||13/20|XM_005261799.2:c.1208+1997A>G|||||||rs737977||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29523841T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||3/10|XM_005261801.5:c.158+1997A>G|||||||rs737977||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||T|T||||chr22:g.29523841T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||14/21|XM_006724347.2:c.1208+1997A>G|||||||rs737977||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29523841T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||14/21|XM_047441558.1:c.1208+1997A>G|||||||rs737977||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29523841T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||13/20|XM_047441559.1:c.1175+1997A>G|||||||rs737977||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29523841T>C|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|30|-50|30|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000443089,ENST00000484924,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68924;gnomADv4_1_AC_joint_XX=35758;gnomADv4_1_AC_joint_XY=33166;gnomADv4_1_AF_grpmax_joint=0.745848;gnomADv4_1_AF_joint=0.453209;gnomADv4_1_AF_joint_XX=0.459981;gnomADv4_1_AF_joint_XY=0.446127;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16101;gnomADv4_1_nhomalt_joint_XX=8456;gnomADv4_1_nhomalt_joint_XY=7645;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29524830 chr22_29524830_C_A C A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.794;CADD_Rawscore=-0.077058;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||11/18|ENST00000358079.8:c.*1030+1008G>T|||||||rs2188120||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29524830C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||12/19|ENST00000397871.5:c.1175+1008G>T|||||||rs2188120||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29524830C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||13/20|ENST00000397872.5:c.1175+1008G>T|||||||rs2188120||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29524830C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||13/20|ENST00000397873.6:c.1175+1008G>T|||||||rs2188120||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29524830C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+10400G>T|||||||rs2188120||-1||||5||||||||Ensembl||C|C||||chr22:g.29524830C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||15/22|ENST00000442555.5:c.*262+1008G>T|||||||rs2188120||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29524830C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs2188120|1008|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||C|C||||chr22:g.29524830C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||5/7|ENST00000484924.5:n.595+1008G>T|||||||rs2188120||-1||HGNC|HGNC:19074|5||||||||Ensembl||C|C||||chr22:g.29524830C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||12/19|ENST00000490103.6:c.1175+1008G>T|||||||rs2188120||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29524830C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs2188120|3553|-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29524830C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||13/20|NM_001002877.2:c.1175+1008G>T|||||||rs2188120||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29524830C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||13/20|NM_001002878.1:c.1175+1008G>T|||||||rs2188120||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29524830C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||12/19|NM_001002879.1:c.1175+1008G>T|||||||rs2188120||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29524830C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||12/19|NM_003678.5:c.1175+1008G>T|||||||rs2188120||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29524830C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||13/20|XM_005261797.2:c.1208+1008G>T|||||||rs2188120||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29524830C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||14/21|XM_005261798.2:c.1208+1008G>T|||||||rs2188120||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29524830C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||13/20|XM_005261799.2:c.1208+1008G>T|||||||rs2188120||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29524830C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||3/10|XM_005261801.5:c.158+1008G>T|||||||rs2188120||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||C|C||||chr22:g.29524830C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||14/21|XM_006724347.2:c.1208+1008G>T|||||||rs2188120||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29524830C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||14/21|XM_047441558.1:c.1208+1008G>T|||||||rs2188120||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29524830C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||13/20|XM_047441559.1:c.1175+1008G>T|||||||rs2188120||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29524830C>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FPF3|open_chromatin_region||||||||||rs2188120|||||||||||||||||||||chr22:g.29524830C>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|19|-9|19|1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000443089,ENST00000484924,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1,ENSR22_9FPF3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,.;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26525;gnomADv4_1_AC_joint_XX=13992;gnomADv4_1_AC_joint_XY=12533;gnomADv4_1_AF_grpmax_joint=0.231293;gnomADv4_1_AF_joint=0.174298;gnomADv4_1_AF_joint_XX=0.179887;gnomADv4_1_AF_joint_XY=0.168454;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152182;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2541;gnomADv4_1_nhomalt_joint_XX=1386;gnomADv4_1_nhomalt_joint_XY=1155;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29526401 chr22_29526401_G_A G A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.035;CADD_Rawscore=-0.009013;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||10/18|ENST00000358079.8:c.*922-455C>T|||||||rs78150365||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29526401G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||11/19|ENST00000397871.5:c.1067-455C>T|||||||rs78150365||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29526401G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||12/20|ENST00000397872.5:c.1067-455C>T|||||||rs78150365||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29526401G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||12/20|ENST00000397873.6:c.1067-455C>T|||||||rs78150365||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29526401G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+8829C>T|||||||rs78150365||-1||||5||||||||Ensembl||G|G||||chr22:g.29526401G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||14/22|ENST00000442555.5:c.*154-455C>T|||||||rs78150365||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29526401G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||8/8|ENST00000443089.5:c.678-455C>T|||||||rs78150365||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29526401G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||4/7|ENST00000484924.5:n.487-455C>T|||||||rs78150365||-1||HGNC|HGNC:19074|5||||||||Ensembl||G|G||||chr22:g.29526401G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||11/19|ENST00000490103.6:c.1067-455C>T|||||||rs78150365||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29526401G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs78150365|1982|-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29526401G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||12/20|NM_001002877.2:c.1067-455C>T|||||||rs78150365||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29526401G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||12/20|NM_001002878.1:c.1067-455C>T|||||||rs78150365||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29526401G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||11/19|NM_001002879.1:c.1067-455C>T|||||||rs78150365||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29526401G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||11/19|NM_003678.5:c.1067-455C>T|||||||rs78150365||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29526401G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||12/20|XM_005261797.2:c.1100-455C>T|||||||rs78150365||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29526401G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||13/21|XM_005261798.2:c.1100-455C>T|||||||rs78150365||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29526401G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||12/20|XM_005261799.2:c.1100-455C>T|||||||rs78150365||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29526401G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||2/10|XM_005261801.5:c.50-455C>T|||||||rs78150365||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||G|G||||chr22:g.29526401G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||13/21|XM_006724347.2:c.1100-455C>T|||||||rs78150365||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29526401G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||13/21|XM_047441558.1:c.1100-455C>T|||||||rs78150365||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29526401G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||12/20|XM_047441559.1:c.1067-455C>T|||||||rs78150365||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29526401G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|-38|-35|6|22;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000443089,ENST00000484924,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30163;gnomADv4_1_AC_joint_XX=15585;gnomADv4_1_AC_joint_XY=14578;gnomADv4_1_AF_grpmax_joint=0.405152;gnomADv4_1_AF_joint=0.198859;gnomADv4_1_AF_joint_XX=0.200869;gnomADv4_1_AF_joint_XY=0.196755;gnomADv4_1_AN_grpmax_joint=5124;gnomADv4_1_AN_joint=151680;gnomADv4_1_AN_joint_XX=77588;gnomADv4_1_AN_joint_XY=74092;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3355;gnomADv4_1_nhomalt_joint_XX=1739;gnomADv4_1_nhomalt_joint_XY=1616;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29527095 chr22_29527095_A_G A G 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.799;CADD_Rawscore=0.135868;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||10/18|ENST00000358079.8:c.*921+983T>C|||||||rs73159006||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29527095A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||11/19|ENST00000397871.5:c.1066+983T>C|||||||rs73159006||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29527095A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||12/20|ENST00000397872.5:c.1066+983T>C|||||||rs73159006||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29527095A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||12/20|ENST00000397873.6:c.1066+983T>C|||||||rs73159006||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29527095A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+8135T>C|||||||rs73159006||-1||||5||||||||Ensembl||A|A||||chr22:g.29527095A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||14/22|ENST00000442555.5:c.*153+983T>C|||||||rs73159006||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29527095A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||8/8|ENST00000443089.5:c.677+983T>C|||||||rs73159006||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||A|A||||chr22:g.29527095A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||4/7|ENST00000484924.5:n.486+983T>C|||||||rs73159006||-1||HGNC|HGNC:19074|5||||||||Ensembl||A|A||||chr22:g.29527095A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs73159006|4458|-1||HGNC|HGNC:19074|3||||||||Ensembl||A|A||||chr22:g.29527095A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||11/19|ENST00000490103.6:c.1066+983T>C|||||||rs73159006||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29527095A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs73159006|1288|-1||HGNC|HGNC:19074|3||||||||Ensembl||A|A||||chr22:g.29527095A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||12/20|NM_001002877.2:c.1066+983T>C|||||||rs73159006||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29527095A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||12/20|NM_001002878.1:c.1066+983T>C|||||||rs73159006||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29527095A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||11/19|NM_001002879.1:c.1066+983T>C|||||||rs73159006||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29527095A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||11/19|NM_003678.5:c.1066+983T>C|||||||rs73159006||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29527095A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||12/20|XM_005261797.2:c.1099+983T>C|||||||rs73159006||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29527095A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||13/21|XM_005261798.2:c.1099+983T>C|||||||rs73159006||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29527095A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||12/20|XM_005261799.2:c.1099+983T>C|||||||rs73159006||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29527095A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||2/10|XM_005261801.5:c.49+983T>C|||||||rs73159006||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||A|A||||chr22:g.29527095A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||13/21|XM_006724347.2:c.1099+983T>C|||||||rs73159006||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29527095A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||13/21|XM_047441558.1:c.1099+983T>C|||||||rs73159006||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29527095A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||12/20|XM_047441559.1:c.1066+983T>C|||||||rs73159006||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29527095A>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|-26|2|-8|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000443089,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30253;gnomADv4_1_AC_joint_XX=15596;gnomADv4_1_AC_joint_XY=14657;gnomADv4_1_AF_grpmax_joint=0.433501;gnomADv4_1_AF_joint=0.198842;gnomADv4_1_AF_joint_XX=0.20055;gnomADv4_1_AF_joint_XY=0.197056;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3368;gnomADv4_1_nhomalt_joint_XX=1738;gnomADv4_1_nhomalt_joint_XY=1630;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29527367 chr22_29527367_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.47;CADD_Rawscore=-0.208569;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||10/18|ENST00000358079.8:c.*921+711G>A|||||||rs11704049||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29527367C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||11/19|ENST00000397871.5:c.1066+711G>A|||||||rs11704049||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29527367C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||12/20|ENST00000397872.5:c.1066+711G>A|||||||rs11704049||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29527367C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||12/20|ENST00000397873.6:c.1066+711G>A|||||||rs11704049||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29527367C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+7863G>A|||||||rs11704049||-1||||5||||||||Ensembl||C|C||||chr22:g.29527367C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||14/22|ENST00000442555.5:c.*153+711G>A|||||||rs11704049||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29527367C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||8/8|ENST00000443089.5:c.677+711G>A|||||||rs11704049||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||C|C||||chr22:g.29527367C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||4/7|ENST00000484924.5:n.486+711G>A|||||||rs11704049||-1||HGNC|HGNC:19074|5||||||||Ensembl||C|C||||chr22:g.29527367C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs11704049|4186|-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29527367C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||11/19|ENST00000490103.6:c.1066+711G>A|||||||rs11704049||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29527367C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs11704049|1016|-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29527367C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||12/20|NM_001002877.2:c.1066+711G>A|||||||rs11704049||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29527367C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||12/20|NM_001002878.1:c.1066+711G>A|||||||rs11704049||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29527367C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||11/19|NM_001002879.1:c.1066+711G>A|||||||rs11704049||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29527367C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||11/19|NM_003678.5:c.1066+711G>A|||||||rs11704049||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29527367C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||12/20|XM_005261797.2:c.1099+711G>A|||||||rs11704049||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29527367C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||13/21|XM_005261798.2:c.1099+711G>A|||||||rs11704049||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29527367C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||12/20|XM_005261799.2:c.1099+711G>A|||||||rs11704049||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29527367C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||2/10|XM_005261801.5:c.49+711G>A|||||||rs11704049||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||C|C||||chr22:g.29527367C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||13/21|XM_006724347.2:c.1099+711G>A|||||||rs11704049||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29527367C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||13/21|XM_047441558.1:c.1099+711G>A|||||||rs11704049||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29527367C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||12/20|XM_047441559.1:c.1066+711G>A|||||||rs11704049||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29527367C>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|12|24|-34|-44;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000443089,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30218;gnomADv4_1_AC_joint_XX=15585;gnomADv4_1_AC_joint_XY=14633;gnomADv4_1_AF_grpmax_joint=0.430255;gnomADv4_1_AF_joint=0.198641;gnomADv4_1_AF_joint_XX=0.200404;gnomADv4_1_AF_joint_XY=0.196796;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152124;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3349;gnomADv4_1_nhomalt_joint_XX=1729;gnomADv4_1_nhomalt_joint_XY=1620;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29528223 chr22_29528223_T_C T C 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.632;CADD_Rawscore=-0.134445;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||9/18|ENST00000358079.8:c.*822-46A>G|||||||rs5763297||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29528223T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||10/19|ENST00000397871.5:c.967-46A>G|||||||rs5763297||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29528223T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||11/20|ENST00000397872.5:c.967-46A>G|||||||rs5763297||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29528223T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||11/20|ENST00000397873.6:c.967-46A>G|||||||rs5763297||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29528223T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+7007A>G|||||||rs5763297||-1||||5||||||||Ensembl||T|T||||chr22:g.29528223T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||13/22|ENST00000442555.5:c.*54-46A>G|||||||rs5763297||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29528223T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||7/8|ENST00000443089.5:c.578-46A>G|||||||rs5763297||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||T|T||||chr22:g.29528223T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||3/7|ENST00000484924.5:n.387-46A>G|||||||rs5763297||-1||HGNC|HGNC:19074|5||||||||Ensembl||T|T||||chr22:g.29528223T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs5763297|3330|-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29528223T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||10/19|ENST00000490103.6:c.967-46A>G|||||||rs5763297||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29528223T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs5763297|160|-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29528223T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||11/20|NM_001002877.2:c.967-46A>G|||||||rs5763297||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29528223T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||11/20|NM_001002878.1:c.967-46A>G|||||||rs5763297||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29528223T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||10/19|NM_001002879.1:c.967-46A>G|||||||rs5763297||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29528223T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||10/19|NM_003678.5:c.967-46A>G|||||||rs5763297||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29528223T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||11/20|XM_005261797.2:c.1000-46A>G|||||||rs5763297||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29528223T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||12/21|XM_005261798.2:c.1000-46A>G|||||||rs5763297||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29528223T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||11/20|XM_005261799.2:c.1000-46A>G|||||||rs5763297||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29528223T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||1/10|XM_005261801.5:c.-51-46A>G|||||||rs5763297||-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||T|T||||chr22:g.29528223T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||12/21|XM_006724347.2:c.1000-46A>G|||||||rs5763297||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29528223T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||12/21|XM_047441558.1:c.1000-46A>G|||||||rs5763297||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29528223T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||11/20|XM_047441559.1:c.967-46A>G|||||||rs5763297||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29528223T>C|||||||||||||;SpliceAI=C|THOC5|0.01|0.00|0.00|0.00|-49|-24|44|41;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000443089,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=371114;gnomADv4_1_AC_joint_XX=187658;gnomADv4_1_AC_joint_XY=183456;gnomADv4_1_AF_grpmax_joint=0.46444;gnomADv4_1_AF_joint=0.230009;gnomADv4_1_AF_joint_XX=0.231059;gnomADv4_1_AF_joint_XY=0.228945;gnomADv4_1_AN_grpmax_joint=44826;gnomADv4_1_AN_joint=1613476;gnomADv4_1_AN_joint_XX=812164;gnomADv4_1_AN_joint_XY=801312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=45041;gnomADv4_1_nhomalt_joint_XX=22856;gnomADv4_1_nhomalt_joint_XY=22185;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29528836 chr22_29528836_T_C T C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.649;CADD_Rawscore=-0.127729;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||8/18|ENST00000358079.8:c.*780+101A>G|||||||rs4823044||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29528836T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||9/19|ENST00000397871.5:c.925+326A>G|||||||rs4823044||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29528836T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||10/20|ENST00000397872.5:c.925+326A>G|||||||rs4823044||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29528836T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||10/20|ENST00000397873.6:c.925+326A>G|||||||rs4823044||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29528836T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+6394A>G|||||||rs4823044||-1||||5||||||||Ensembl||T|T||||chr22:g.29528836T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||11/22|ENST00000442555.5:c.958+326A>G|||||||rs4823044||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29528836T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||6/8|ENST00000443089.5:c.536+326A>G|||||||rs4823044||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||T|T||||chr22:g.29528836T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||2/7|ENST00000484924.5:n.193+326A>G|||||||rs4823044||-1||HGNC|HGNC:19074|5||||||||Ensembl||T|T||||chr22:g.29528836T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs4823044|2717|-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29528836T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||9/19|ENST00000490103.6:c.925+326A>G|||||||rs4823044||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29528836T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||4/4|ENST00000492707.5:n.466+326A>G|||||||rs4823044||-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29528836T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||10/20|NM_001002877.2:c.925+326A>G|||||||rs4823044||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29528836T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||10/20|NM_001002878.1:c.925+326A>G|||||||rs4823044||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29528836T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||9/19|NM_001002879.1:c.925+326A>G|||||||rs4823044||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29528836T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||9/19|NM_003678.5:c.925+326A>G|||||||rs4823044||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29528836T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||10/20|XM_005261797.2:c.958+326A>G|||||||rs4823044||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29528836T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||11/21|XM_005261798.2:c.958+326A>G|||||||rs4823044||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29528836T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||10/20|XM_005261799.2:c.958+326A>G|||||||rs4823044||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29528836T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||||||||||rs4823044|451|-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||T|T||||chr22:g.29528836T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||11/21|XM_006724347.2:c.958+326A>G|||||||rs4823044||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29528836T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||11/21|XM_047441558.1:c.958+326A>G|||||||rs4823044||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29528836T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||10/20|XM_047441559.1:c.925+326A>G|||||||rs4823044||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29528836T>C|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|-9|-2|14|32;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000443089,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=290069;gnomADv4_1_AC_joint_XX=139225;gnomADv4_1_AC_joint_XY=150844;gnomADv4_1_AF_grpmax_joint=0.806731;gnomADv4_1_AF_joint=0.595091;gnomADv4_1_AF_joint_XX=0.584954;gnomADv4_1_AF_joint_XY=0.604765;gnomADv4_1_AN_grpmax_joint=27454;gnomADv4_1_AN_joint=487436;gnomADv4_1_AN_joint_XX=238010;gnomADv4_1_AN_joint_XY=249426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=88969;gnomADv4_1_nhomalt_joint_XX=41910;gnomADv4_1_nhomalt_joint_XY=47059;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29529295 chr22_29529295_T_C T C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.625;CADD_Rawscore=0.109122;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||7/18|ENST00000358079.8:c.*478-56A>G|||||||rs2302141||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29529295T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||8/19|ENST00000397871.5:c.848-56A>G|||||||rs2302141||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29529295T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||9/20|ENST00000397872.5:c.848-56A>G|||||||rs2302141||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29529295T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||9/20|ENST00000397873.6:c.848-56A>G|||||||rs2302141||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29529295T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+5935A>G|||||||rs2302141||-1||||5||||||||Ensembl||T|T||||chr22:g.29529295T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||10/22|ENST00000442555.5:c.881-56A>G|||||||rs2302141||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29529295T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||5/8|ENST00000443089.5:c.459-56A>G|||||||rs2302141||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||T|T||||chr22:g.29529295T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||1/7|ENST00000484924.5:n.116-56A>G|||||||rs2302141||-1||HGNC|HGNC:19074|5||||||||Ensembl||T|T||||chr22:g.29529295T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs2302141|2258|-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29529295T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||8/19|ENST00000490103.6:c.848-56A>G|||||||rs2302141||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29529295T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||3/4|ENST00000492707.5:n.389-56A>G|||||||rs2302141||-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29529295T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||9/20|NM_001002877.2:c.848-56A>G|||||||rs2302141||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29529295T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||9/20|NM_001002878.1:c.848-56A>G|||||||rs2302141||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29529295T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||8/19|NM_001002879.1:c.848-56A>G|||||||rs2302141||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29529295T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||8/19|NM_003678.5:c.848-56A>G|||||||rs2302141||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29529295T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||9/20|XM_005261797.2:c.881-56A>G|||||||rs2302141||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29529295T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||10/21|XM_005261798.2:c.881-56A>G|||||||rs2302141||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29529295T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||9/20|XM_005261799.2:c.881-56A>G|||||||rs2302141||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29529295T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||||||||||rs2302141|910|-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||T|T||||chr22:g.29529295T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||10/21|XM_006724347.2:c.881-56A>G|||||||rs2302141||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29529295T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||10/21|XM_047441558.1:c.881-56A>G|||||||rs2302141||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29529295T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||9/20|XM_047441559.1:c.848-56A>G|||||||rs2302141||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29529295T>C|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|-37|-12|35|37;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000443089,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=366352;gnomADv4_1_AC_joint_XX=184783;gnomADv4_1_AC_joint_XY=181569;gnomADv4_1_AF_grpmax_joint=0.46314;gnomADv4_1_AF_joint=0.231321;gnomADv4_1_AF_joint_XX=0.232357;gnomADv4_1_AF_joint_XY=0.230275;gnomADv4_1_AN_grpmax_joint=44628;gnomADv4_1_AN_joint=1583742;gnomADv4_1_AN_joint_XX=795254;gnomADv4_1_AN_joint_XY=788488;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=44483;gnomADv4_1_nhomalt_joint_XX=22494;gnomADv4_1_nhomalt_joint_XY=21989;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29531609 chr22_29531609_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.354;CADD_Rawscore=-0.280252;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||7/18|ENST00000358079.8:c.*477+222G>A|||||||rs9613940||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29531609C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||8/19|ENST00000397871.5:c.847+222G>A|||||||rs9613940||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29531609C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||9/20|ENST00000397872.5:c.847+222G>A|||||||rs9613940||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29531609C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||9/20|ENST00000397873.6:c.847+222G>A|||||||rs9613940||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29531609C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+3621G>A|||||||rs9613940||-1||||5||||||||Ensembl||C|C||||chr22:g.29531609C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||9/22|ENST00000442555.5:c.847+222G>A|||||||rs9613940||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29531609C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||4/8|ENST00000443089.5:c.425+222G>A|||||||rs9613940||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||C|C||||chr22:g.29531609C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs9613940|2929|-1||HGNC|HGNC:19074|1||||||||Ensembl||C|C||||chr22:g.29531609C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||1/7|ENST00000484924.5:n.116-2370G>A|||||||rs9613940||-1||HGNC|HGNC:19074|5||||||||Ensembl||C|C||||chr22:g.29531609C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron|2/2||ENST00000488052.1:n.470G>A||470|||||rs9613940||-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29531609C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||8/19|ENST00000490103.6:c.847+222G>A|||||||rs9613940||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29531609C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||3/4|ENST00000492707.5:n.388+222G>A|||||||rs9613940||-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29531609C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||9/20|NM_001002877.2:c.847+222G>A|||||||rs9613940||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29531609C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||9/20|NM_001002878.1:c.847+222G>A|||||||rs9613940||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29531609C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||8/19|NM_001002879.1:c.847+222G>A|||||||rs9613940||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29531609C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||8/19|NM_003678.5:c.847+222G>A|||||||rs9613940||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29531609C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||8/20|XM_005261797.2:c.847+222G>A|||||||rs9613940||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29531609C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||9/21|XM_005261798.2:c.847+222G>A|||||||rs9613940||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29531609C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||8/20|XM_005261799.2:c.847+222G>A|||||||rs9613940||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29531609C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||||||||||rs9613940|3224|-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||C|C||||chr22:g.29531609C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||9/21|XM_006724347.2:c.847+222G>A|||||||rs9613940||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29531609C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||9/21|XM_047441558.1:c.847+222G>A|||||||rs9613940||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29531609C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||9/20|XM_047441559.1:c.847+222G>A|||||||rs9613940||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29531609C>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|25|-1|25|6;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000442555,ENST00000443089,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=344369;gnomADv4_1_AC_joint_XX=181699;gnomADv4_1_AC_joint_XY=162670;gnomADv4_1_AF_grpmax_joint=0.284344;gnomADv4_1_AF_joint=0.268487;gnomADv4_1_AF_joint_XX=0.271011;gnomADv4_1_AF_joint_XY=0.265722;gnomADv4_1_AN_grpmax_joint=32422;gnomADv4_1_AN_joint=1282630;gnomADv4_1_AN_joint_XX=670450;gnomADv4_1_AN_joint_XY=612180;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=47433;gnomADv4_1_nhomalt_joint_XX=25091;gnomADv4_1_nhomalt_joint_XY=22342;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29531715 chr22_29531715_T_C T C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=13.86;CADD_Rawscore=1.44554;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||7/18|ENST00000358079.8:c.*477+116A>G|||||||rs5763300||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29531715T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||8/19|ENST00000397871.5:c.847+116A>G|||||||rs5763300||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29531715T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||9/20|ENST00000397872.5:c.847+116A>G|||||||rs5763300||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29531715T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||9/20|ENST00000397873.6:c.847+116A>G|||||||rs5763300||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29531715T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+3515A>G|||||||rs5763300||-1||||5||||||||Ensembl||T|T||||chr22:g.29531715T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs5763300|4952|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||T|T||||chr22:g.29531715T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||9/22|ENST00000442555.5:c.847+116A>G|||||||rs5763300||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29531715T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||4/8|ENST00000443089.5:c.425+116A>G|||||||rs5763300||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||T|T||||chr22:g.29531715T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs5763300|2823|-1||HGNC|HGNC:19074|1||||||||Ensembl||T|T||||chr22:g.29531715T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||1/7|ENST00000484924.5:n.116-2476A>G|||||||rs5763300||-1||HGNC|HGNC:19074|5||||||||Ensembl||T|T||||chr22:g.29531715T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron|2/2||ENST00000488052.1:n.364A>G||364|||||rs5763300||-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29531715T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||8/19|ENST00000490103.6:c.847+116A>G|||||||rs5763300||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29531715T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||3/4|ENST00000492707.5:n.388+116A>G|||||||rs5763300||-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29531715T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||9/20|NM_001002877.2:c.847+116A>G|||||||rs5763300||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29531715T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||9/20|NM_001002878.1:c.847+116A>G|||||||rs5763300||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29531715T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||8/19|NM_001002879.1:c.847+116A>G|||||||rs5763300||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29531715T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||8/19|NM_003678.5:c.847+116A>G|||||||rs5763300||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29531715T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||8/20|XM_005261797.2:c.847+116A>G|||||||rs5763300||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29531715T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||9/21|XM_005261798.2:c.847+116A>G|||||||rs5763300||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29531715T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||8/20|XM_005261799.2:c.847+116A>G|||||||rs5763300||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29531715T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||||||||||rs5763300|3330|-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||T|T||||chr22:g.29531715T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||9/21|XM_006724347.2:c.847+116A>G|||||||rs5763300||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29531715T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||9/21|XM_047441558.1:c.847+116A>G|||||||rs5763300||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29531715T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||9/20|XM_047441559.1:c.847+116A>G|||||||rs5763300||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29531715T>C|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|17|-36|42|-1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=338103;gnomADv4_1_AC_joint_XX=173432;gnomADv4_1_AC_joint_XY=164671;gnomADv4_1_AF_grpmax_joint=0.465855;gnomADv4_1_AF_joint=0.226939;gnomADv4_1_AF_joint_XX=0.227855;gnomADv4_1_AF_joint_XY=0.225982;gnomADv4_1_AN_grpmax_joint=42964;gnomADv4_1_AN_joint=1489842;gnomADv4_1_AN_joint_XX=761152;gnomADv4_1_AN_joint_XY=728690;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=40752;gnomADv4_1_nhomalt_joint_XX=20950;gnomADv4_1_nhomalt_joint_XY=19802;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29532943 chr22_29532943_A_G A G 55 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.305;CADD_Rawscore=0.484732;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||6/18|ENST00000358079.8:c.*345-980T>C|||||||rs10427614||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||7/19|ENST00000397871.5:c.715-980T>C|||||||rs10427614||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||8/20|ENST00000397872.5:c.715-980T>C|||||||rs10427614||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||8/20|ENST00000397873.6:c.715-980T>C|||||||rs10427614||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+2287T>C|||||||rs10427614||-1||||5||||||||Ensembl||A|A||||chr22:g.29532943A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs10427614|3724|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||8/22|ENST00000442555.5:c.715-980T>C|||||||rs10427614||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||3/8|ENST00000443089.5:c.293-980T>C|||||||rs10427614||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||A|A||||chr22:g.29532943A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs10427614|1595|-1||HGNC|HGNC:19074|1||||||||Ensembl||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||1/7|ENST00000484924.5:n.115+3681T>C|||||||rs10427614||-1||HGNC|HGNC:19074|5||||||||Ensembl||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||1/1|ENST00000488052.1:n.116-980T>C|||||||rs10427614||-1||HGNC|HGNC:19074|3||||||||Ensembl||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||7/19|ENST00000490103.6:c.715-980T>C|||||||rs10427614||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||2/4|ENST00000492707.5:n.256-980T>C|||||||rs10427614||-1||HGNC|HGNC:19074|3||||||||Ensembl||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||8/20|NM_001002877.2:c.715-980T>C|||||||rs10427614||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||8/20|NM_001002878.1:c.715-980T>C|||||||rs10427614||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29532943A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||7/19|NM_001002879.1:c.715-980T>C|||||||rs10427614||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29532943A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||7/19|NM_003678.5:c.715-980T>C|||||||rs10427614||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||7/20|XM_005261797.2:c.715-980T>C|||||||rs10427614||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||8/21|XM_005261798.2:c.715-980T>C|||||||rs10427614||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||7/20|XM_005261799.2:c.715-980T>C|||||||rs10427614||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29532943A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||||||||||rs10427614|4558|-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||8/21|XM_006724347.2:c.715-980T>C|||||||rs10427614||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||8/21|XM_047441558.1:c.715-980T>C|||||||rs10427614||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29532943A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||8/20|XM_047441559.1:c.715-980T>C|||||||rs10427614||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29532943A>G|||||||||||||;SpliceAI=G|THOC5|0.02|0.00|0.00|0.00|27|26|-42|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30461;gnomADv4_1_AC_joint_XX=15709;gnomADv4_1_AC_joint_XY=14752;gnomADv4_1_AF_grpmax_joint=0.423316;gnomADv4_1_AF_joint=0.200341;gnomADv4_1_AF_joint_XX=0.202055;gnomADv4_1_AF_joint_XY=0.198546;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3315;gnomADv4_1_nhomalt_joint_XX=1716;gnomADv4_1_nhomalt_joint_XY=1599;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29532959 chr22_29532959_G_C G C 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.107;CADD_Rawscore=-0.593036;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||6/18|ENST00000358079.8:c.*345-996C>G|||||||rs10427559||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||7/19|ENST00000397871.5:c.715-996C>G|||||||rs10427559||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||8/20|ENST00000397872.5:c.715-996C>G|||||||rs10427559||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||8/20|ENST00000397873.6:c.715-996C>G|||||||rs10427559||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+2271C>G|||||||rs10427559||-1||||5||||||||Ensembl||G|G||||chr22:g.29532959G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs10427559|3708|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||8/22|ENST00000442555.5:c.715-996C>G|||||||rs10427559||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||3/8|ENST00000443089.5:c.293-996C>G|||||||rs10427559||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29532959G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs10427559|1579|-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||1/7|ENST00000484924.5:n.115+3665C>G|||||||rs10427559||-1||HGNC|HGNC:19074|5||||||||Ensembl||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||1/1|ENST00000488052.1:n.116-996C>G|||||||rs10427559||-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||7/19|ENST00000490103.6:c.715-996C>G|||||||rs10427559||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||2/4|ENST00000492707.5:n.256-996C>G|||||||rs10427559||-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||8/20|NM_001002877.2:c.715-996C>G|||||||rs10427559||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||8/20|NM_001002878.1:c.715-996C>G|||||||rs10427559||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29532959G>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||7/19|NM_001002879.1:c.715-996C>G|||||||rs10427559||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29532959G>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||7/19|NM_003678.5:c.715-996C>G|||||||rs10427559||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||7/20|XM_005261797.2:c.715-996C>G|||||||rs10427559||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||8/21|XM_005261798.2:c.715-996C>G|||||||rs10427559||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||7/20|XM_005261799.2:c.715-996C>G|||||||rs10427559||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29532959G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||||||||||rs10427559|4574|-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||8/21|XM_006724347.2:c.715-996C>G|||||||rs10427559||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||8/21|XM_047441558.1:c.715-996C>G|||||||rs10427559||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29532959G>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||8/20|XM_047441559.1:c.715-996C>G|||||||rs10427559||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29532959G>C|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|11|-9|15|11;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30472;gnomADv4_1_AC_joint_XX=15717;gnomADv4_1_AC_joint_XY=14755;gnomADv4_1_AF_grpmax_joint=0.424602;gnomADv4_1_AF_joint=0.200463;gnomADv4_1_AF_joint_XX=0.202236;gnomADv4_1_AF_joint_XY=0.198608;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3313;gnomADv4_1_nhomalt_joint_XX=1716;gnomADv4_1_nhomalt_joint_XY=1597;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29533250 chr22_29533250_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=6.117;CADD_Rawscore=0.565045;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||6/18|ENST00000358079.8:c.*345-1287C>T|||||||rs8135828||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||7/19|ENST00000397871.5:c.715-1287C>T|||||||rs8135828||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||8/20|ENST00000397872.5:c.715-1287C>T|||||||rs8135828||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||8/20|ENST00000397873.6:c.715-1287C>T|||||||rs8135828||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+1980C>T|||||||rs8135828||-1||||5||||||||Ensembl||G|G||||chr22:g.29533250G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs8135828|3417|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||8/22|ENST00000442555.5:c.715-1287C>T|||||||rs8135828||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||3/8|ENST00000443089.5:c.293-1287C>T|||||||rs8135828||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29533250G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs8135828|1288|-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||1/7|ENST00000484924.5:n.115+3374C>T|||||||rs8135828||-1||HGNC|HGNC:19074|5||||||||Ensembl||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||1/1|ENST00000488052.1:n.116-1287C>T|||||||rs8135828||-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||7/19|ENST00000490103.6:c.715-1287C>T|||||||rs8135828||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||2/4|ENST00000492707.5:n.256-1287C>T|||||||rs8135828||-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||8/20|NM_001002877.2:c.715-1287C>T|||||||rs8135828||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||8/20|NM_001002878.1:c.715-1287C>T|||||||rs8135828||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29533250G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||7/19|NM_001002879.1:c.715-1287C>T|||||||rs8135828||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29533250G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||7/19|NM_003678.5:c.715-1287C>T|||||||rs8135828||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||7/20|XM_005261797.2:c.715-1287C>T|||||||rs8135828||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||8/21|XM_005261798.2:c.715-1287C>T|||||||rs8135828||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||7/20|XM_005261799.2:c.715-1287C>T|||||||rs8135828||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29533250G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261801.5|protein_coding||||||||||rs8135828|4865|-1||EntrezGene|HGNC:19074|||XP_005261858.1||||||RefSeq||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||8/21|XM_006724347.2:c.715-1287C>T|||||||rs8135828||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||8/21|XM_047441558.1:c.715-1287C>T|||||||rs8135828||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29533250G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||8/20|XM_047441559.1:c.715-1287C>T|||||||rs8135828||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29533250G>A|||1||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|-12|23|-12|-21;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_005261801.5,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21407;gnomADv4_1_AC_joint_XX=10959;gnomADv4_1_AC_joint_XY=10448;gnomADv4_1_AF_grpmax_joint=0.415149;gnomADv4_1_AF_joint=0.140619;gnomADv4_1_AF_joint_XX=0.140868;gnomADv4_1_AF_joint_XY=0.140358;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152234;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1964;gnomADv4_1_nhomalt_joint_XX=994;gnomADv4_1_nhomalt_joint_XY=970;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29533638 chr22_29533638_G_A G A 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.776;CADD_Rawscore=-0.082792;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||6/18|ENST00000358079.8:c.*345-1675C>T|||||||rs5763301||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||7/19|ENST00000397871.5:c.715-1675C>T|||||||rs5763301||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||8/20|ENST00000397872.5:c.715-1675C>T|||||||rs5763301||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||8/20|ENST00000397873.6:c.715-1675C>T|||||||rs5763301||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+1592C>T|||||||rs5763301||-1||||5||||||||Ensembl||G|G||||chr22:g.29533638G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs5763301|3029|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||8/22|ENST00000442555.5:c.715-1675C>T|||||||rs5763301||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||3/8|ENST00000443089.5:c.293-1675C>T|||||||rs5763301||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29533638G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs5763301|900|-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||1/7|ENST00000484924.5:n.115+2986C>T|||||||rs5763301||-1||HGNC|HGNC:19074|5||||||||Ensembl||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||1/1|ENST00000488052.1:n.116-1675C>T|||||||rs5763301||-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||7/19|ENST00000490103.6:c.715-1675C>T|||||||rs5763301||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||2/4|ENST00000492707.5:n.256-1675C>T|||||||rs5763301||-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||8/20|NM_001002877.2:c.715-1675C>T|||||||rs5763301||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||8/20|NM_001002878.1:c.715-1675C>T|||||||rs5763301||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29533638G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||7/19|NM_001002879.1:c.715-1675C>T|||||||rs5763301||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29533638G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||7/19|NM_003678.5:c.715-1675C>T|||||||rs5763301||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||7/20|XM_005261797.2:c.715-1675C>T|||||||rs5763301||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||8/21|XM_005261798.2:c.715-1675C>T|||||||rs5763301||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||7/20|XM_005261799.2:c.715-1675C>T|||||||rs5763301||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||8/21|XM_006724347.2:c.715-1675C>T|||||||rs5763301||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||8/21|XM_047441558.1:c.715-1675C>T|||||||rs5763301||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29533638G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||8/20|XM_047441559.1:c.715-1675C>T|||||||rs5763301||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29533638G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|21|-38|6|-38;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30174;gnomADv4_1_AC_joint_XX=15532;gnomADv4_1_AC_joint_XY=14642;gnomADv4_1_AF_grpmax_joint=0.426084;gnomADv4_1_AF_joint=0.198383;gnomADv4_1_AF_joint_XX=0.199738;gnomADv4_1_AF_joint_XY=0.196965;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3295;gnomADv4_1_nhomalt_joint_XX=1696;gnomADv4_1_nhomalt_joint_XY=1599;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29533734 chr22_29533734_T_C T C 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.171;CADD_Rawscore=-0.467906;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||6/18|ENST00000358079.8:c.*345-1771A>G|||||||rs5763302||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||7/19|ENST00000397871.5:c.715-1771A>G|||||||rs5763302||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||8/20|ENST00000397872.5:c.715-1771A>G|||||||rs5763302||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||8/20|ENST00000397873.6:c.715-1771A>G|||||||rs5763302||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+1496A>G|||||||rs5763302||-1||||5||||||||Ensembl||T|T||||chr22:g.29533734T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs5763302|2933|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||8/22|ENST00000442555.5:c.715-1771A>G|||||||rs5763302||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||3/8|ENST00000443089.5:c.293-1771A>G|||||||rs5763302||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||T|T||||chr22:g.29533734T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs5763302|804|-1||HGNC|HGNC:19074|1||||||||Ensembl||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||1/7|ENST00000484924.5:n.115+2890A>G|||||||rs5763302||-1||HGNC|HGNC:19074|5||||||||Ensembl||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||1/1|ENST00000488052.1:n.116-1771A>G|||||||rs5763302||-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||7/19|ENST00000490103.6:c.715-1771A>G|||||||rs5763302||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||2/4|ENST00000492707.5:n.256-1771A>G|||||||rs5763302||-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||8/20|NM_001002877.2:c.715-1771A>G|||||||rs5763302||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||8/20|NM_001002878.1:c.715-1771A>G|||||||rs5763302||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29533734T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||7/19|NM_001002879.1:c.715-1771A>G|||||||rs5763302||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29533734T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||7/19|NM_003678.5:c.715-1771A>G|||||||rs5763302||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||7/20|XM_005261797.2:c.715-1771A>G|||||||rs5763302||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||8/21|XM_005261798.2:c.715-1771A>G|||||||rs5763302||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||7/20|XM_005261799.2:c.715-1771A>G|||||||rs5763302||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||8/21|XM_006724347.2:c.715-1771A>G|||||||rs5763302||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||8/21|XM_047441558.1:c.715-1771A>G|||||||rs5763302||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29533734T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||8/20|XM_047441559.1:c.715-1771A>G|||||||rs5763302||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29533734T>C|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|24|-2|-36|-3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73942;gnomADv4_1_AC_joint_XX=38333;gnomADv4_1_AC_joint_XY=35609;gnomADv4_1_AF_grpmax_joint=0.755212;gnomADv4_1_AF_joint=0.486531;gnomADv4_1_AF_joint_XX=0.493194;gnomADv4_1_AF_joint_XY=0.479557;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=151978;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18115;gnomADv4_1_nhomalt_joint_XX=9471;gnomADv4_1_nhomalt_joint_XY=8644;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29533755 chr22_29533755_A_G A G 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=11.18;CADD_Rawscore=1.07939;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||6/18|ENST00000358079.8:c.*345-1792T>C|||||||rs5763303||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||7/19|ENST00000397871.5:c.715-1792T>C|||||||rs5763303||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||8/20|ENST00000397872.5:c.715-1792T>C|||||||rs5763303||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||8/20|ENST00000397873.6:c.715-1792T>C|||||||rs5763303||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+1475T>C|||||||rs5763303||-1||||5||||||||Ensembl||A|A||||chr22:g.29533755A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs5763303|2912|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||8/22|ENST00000442555.5:c.715-1792T>C|||||||rs5763303||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||3/8|ENST00000443089.5:c.293-1792T>C|||||||rs5763303||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||A|A||||chr22:g.29533755A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs5763303|783|-1||HGNC|HGNC:19074|1||||||||Ensembl||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||1/7|ENST00000484924.5:n.115+2869T>C|||||||rs5763303||-1||HGNC|HGNC:19074|5||||||||Ensembl||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||1/1|ENST00000488052.1:n.116-1792T>C|||||||rs5763303||-1||HGNC|HGNC:19074|3||||||||Ensembl||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||7/19|ENST00000490103.6:c.715-1792T>C|||||||rs5763303||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||2/4|ENST00000492707.5:n.256-1792T>C|||||||rs5763303||-1||HGNC|HGNC:19074|3||||||||Ensembl||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||8/20|NM_001002877.2:c.715-1792T>C|||||||rs5763303||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||8/20|NM_001002878.1:c.715-1792T>C|||||||rs5763303||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29533755A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||7/19|NM_001002879.1:c.715-1792T>C|||||||rs5763303||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29533755A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||7/19|NM_003678.5:c.715-1792T>C|||||||rs5763303||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||7/20|XM_005261797.2:c.715-1792T>C|||||||rs5763303||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||8/21|XM_005261798.2:c.715-1792T>C|||||||rs5763303||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||7/20|XM_005261799.2:c.715-1792T>C|||||||rs5763303||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||8/21|XM_006724347.2:c.715-1792T>C|||||||rs5763303||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||8/21|XM_047441558.1:c.715-1792T>C|||||||rs5763303||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29533755A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||8/20|XM_047441559.1:c.715-1792T>C|||||||rs5763303||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29533755A>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|3|-23|3|40;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30154;gnomADv4_1_AC_joint_XX=15529;gnomADv4_1_AC_joint_XY=14625;gnomADv4_1_AF_grpmax_joint=0.426119;gnomADv4_1_AF_joint=0.198126;gnomADv4_1_AF_joint_XX=0.199602;gnomADv4_1_AF_joint_XY=0.196583;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152196;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3284;gnomADv4_1_nhomalt_joint_XX=1693;gnomADv4_1_nhomalt_joint_XY=1591;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29534075 chr22_29534075_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.208;CADD_Rawscore=-0.41709;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||6/18|ENST00000358079.8:c.*345-2112G>A|||||||rs5763304||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||7/19|ENST00000397871.5:c.715-2112G>A|||||||rs5763304||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||8/20|ENST00000397872.5:c.715-2112G>A|||||||rs5763304||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||8/20|ENST00000397873.6:c.715-2112G>A|||||||rs5763304||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+1155G>A|||||||rs5763304||-1||||5||||||||Ensembl||C|C||||chr22:g.29534075C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs5763304|2592|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||8/22|ENST00000442555.5:c.715-2112G>A|||||||rs5763304||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||3/8|ENST00000443089.5:c.293-2112G>A|||||||rs5763304||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||C|C||||chr22:g.29534075C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs5763304|463|-1||HGNC|HGNC:19074|1||||||||Ensembl||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||1/7|ENST00000484924.5:n.115+2549G>A|||||||rs5763304||-1||HGNC|HGNC:19074|5||||||||Ensembl||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||1/1|ENST00000488052.1:n.116-2112G>A|||||||rs5763304||-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||7/19|ENST00000490103.6:c.715-2112G>A|||||||rs5763304||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||2/4|ENST00000492707.5:n.256-2112G>A|||||||rs5763304||-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||8/20|NM_001002877.2:c.715-2112G>A|||||||rs5763304||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||8/20|NM_001002878.1:c.715-2112G>A|||||||rs5763304||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29534075C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||7/19|NM_001002879.1:c.715-2112G>A|||||||rs5763304||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29534075C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||7/19|NM_003678.5:c.715-2112G>A|||||||rs5763304||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||7/20|XM_005261797.2:c.715-2112G>A|||||||rs5763304||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||8/21|XM_005261798.2:c.715-2112G>A|||||||rs5763304||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||7/20|XM_005261799.2:c.715-2112G>A|||||||rs5763304||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||8/21|XM_006724347.2:c.715-2112G>A|||||||rs5763304||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||8/21|XM_047441558.1:c.715-2112G>A|||||||rs5763304||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29534075C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||8/20|XM_047441559.1:c.715-2112G>A|||||||rs5763304||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29534075C>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-2|-7|22|50;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73030;gnomADv4_1_AC_joint_XX=37843;gnomADv4_1_AC_joint_XY=35187;gnomADv4_1_AF_grpmax_joint=0.755603;gnomADv4_1_AF_joint=0.480511;gnomADv4_1_AF_joint_XX=0.487115;gnomADv4_1_AF_joint_XY=0.473606;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=151984;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17712;gnomADv4_1_nhomalt_joint_XX=9254;gnomADv4_1_nhomalt_joint_XY=8458;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29534206 chr22_29534206_T_C T C 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=9.294;CADD_Rawscore=0.903667;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||6/18|ENST00000358079.8:c.*345-2243A>G|||||||rs5763305||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||7/19|ENST00000397871.5:c.715-2243A>G|||||||rs5763305||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||8/20|ENST00000397872.5:c.715-2243A>G|||||||rs5763305||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||8/20|ENST00000397873.6:c.715-2243A>G|||||||rs5763305||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+1024A>G|||||||rs5763305||-1||||5||||||||Ensembl||T|T||||chr22:g.29534206T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs5763305|2461|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||8/22|ENST00000442555.5:c.715-2243A>G|||||||rs5763305||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||3/8|ENST00000443089.5:c.293-2243A>G|||||||rs5763305||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||T|T||||chr22:g.29534206T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs5763305|332|-1||HGNC|HGNC:19074|1||||||||Ensembl||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||1/7|ENST00000484924.5:n.115+2418A>G|||||||rs5763305||-1||HGNC|HGNC:19074|5||||||||Ensembl||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||1/1|ENST00000488052.1:n.116-2243A>G|||||||rs5763305||-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||7/19|ENST00000490103.6:c.715-2243A>G|||||||rs5763305||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||2/4|ENST00000492707.5:n.256-2243A>G|||||||rs5763305||-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||8/20|NM_001002877.2:c.715-2243A>G|||||||rs5763305||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||8/20|NM_001002878.1:c.715-2243A>G|||||||rs5763305||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29534206T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||7/19|NM_001002879.1:c.715-2243A>G|||||||rs5763305||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29534206T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||7/19|NM_003678.5:c.715-2243A>G|||||||rs5763305||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||7/20|XM_005261797.2:c.715-2243A>G|||||||rs5763305||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||8/21|XM_005261798.2:c.715-2243A>G|||||||rs5763305||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||7/20|XM_005261799.2:c.715-2243A>G|||||||rs5763305||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||8/21|XM_006724347.2:c.715-2243A>G|||||||rs5763305||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||8/21|XM_047441558.1:c.715-2243A>G|||||||rs5763305||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29534206T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||8/20|XM_047441559.1:c.715-2243A>G|||||||rs5763305||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29534206T>C|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|26|-4|26|27;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21385;gnomADv4_1_AC_joint_XX=10958;gnomADv4_1_AC_joint_XY=10427;gnomADv4_1_AF_grpmax_joint=0.415215;gnomADv4_1_AF_joint=0.140559;gnomADv4_1_AF_joint_XX=0.140906;gnomADv4_1_AF_joint_XY=0.140197;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1959;gnomADv4_1_nhomalt_joint_XX=994;gnomADv4_1_nhomalt_joint_XY=965;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29534541 chr22_29534541_GT_G GT G 56 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=0.55;CADDIndel_Rawscore=-0.169461;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||6/18|ENST00000358079.8:c.*344+2082del|||||||rs59426394||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||7/19|ENST00000397871.5:c.714+2082del|||||||rs59426394||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||8/20|ENST00000397872.5:c.714+2082del|||||||rs59426394||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||8/20|ENST00000397873.6:c.714+2082del|||||||rs59426394||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+688del|||||||rs59426394||-1||||5||||||||Ensembl||T|T||||chr22:g.29534552del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs59426394|4902|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||T|T||||chr22:g.29534552del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs59426394|2125|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||8/22|ENST00000442555.5:c.714+2082del|||||||rs59426394||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||3/8|ENST00000443089.5:c.292+2082del|||||||rs59426394||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||T|T||||chr22:g.29534552del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs59426394|4796|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||T|T||||chr22:g.29534552del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron|7/7||ENST00000475187.5:n.1931del||1931|||||rs59426394||-1||HGNC|HGNC:19074|1||||||||Ensembl||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||1/7|ENST00000484924.5:n.115+2082del|||||||rs59426394||-1||HGNC|HGNC:19074|5||||||||Ensembl||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||1/1|ENST00000488052.1:n.115+2082del|||||||rs59426394||-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||7/19|ENST00000490103.6:c.714+2082del|||||||rs59426394||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||2/4|ENST00000492707.5:n.255+2082del|||||||rs59426394||-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||8/20|NM_001002877.2:c.714+2082del|||||||rs59426394||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||8/20|NM_001002878.1:c.714+2082del|||||||rs59426394||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29534552del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||7/19|NM_001002879.1:c.714+2082del|||||||rs59426394||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29534552del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||7/19|NM_003678.5:c.714+2082del|||||||rs59426394||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||7/20|XM_005261797.2:c.714+2082del|||||||rs59426394||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||8/21|XM_005261798.2:c.714+2082del|||||||rs59426394||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||7/20|XM_005261799.2:c.714+2082del|||||||rs59426394||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||8/21|XM_006724347.2:c.714+2082del|||||||rs59426394||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||8/21|XM_047441558.1:c.714+2082del|||||||rs59426394||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29534552del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||8/20|XM_047441559.1:c.714+2082del|||||||rs59426394||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29534552del|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|17|36|-17|-13;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29499;gnomADv4_1_AC_joint_XX=15237;gnomADv4_1_AC_joint_XY=14262;gnomADv4_1_AF_grpmax_joint=0.428998;gnomADv4_1_AF_joint=0.202912;gnomADv4_1_AF_joint_XX=0.203671;gnomADv4_1_AF_joint_XY=0.202109;gnomADv4_1_AN_grpmax_joint=5028;gnomADv4_1_AN_joint=145378;gnomADv4_1_AN_joint_XX=74812;gnomADv4_1_AN_joint_XY=70566;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3152;gnomADv4_1_nhomalt_joint_XX=1636;gnomADv4_1_nhomalt_joint_XY=1516;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29534589 chr22_29534589_C_A C A 59 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.775;CADD_Rawscore=0.132422;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||6/18|ENST00000358079.8:c.*344+2035G>T|||||||rs5763306||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||7/19|ENST00000397871.5:c.714+2035G>T|||||||rs5763306||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||8/20|ENST00000397872.5:c.714+2035G>T|||||||rs5763306||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||8/20|ENST00000397873.6:c.714+2035G>T|||||||rs5763306||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||1/1|ENST00000411969.1:n.161+641G>T|||||||rs5763306||-1||||5||||||||Ensembl||C|C||||chr22:g.29534589C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs5763306|4855|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||C|C||||chr22:g.29534589C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs5763306|2078|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||8/22|ENST00000442555.5:c.714+2035G>T|||||||rs5763306||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||3/8|ENST00000443089.5:c.292+2035G>T|||||||rs5763306||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||C|C||||chr22:g.29534589C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs5763306|4749|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||C|C||||chr22:g.29534589C>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron|7/7||ENST00000475187.5:n.1884G>T||1884|||||rs5763306||-1||HGNC|HGNC:19074|1||||||||Ensembl||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||1/7|ENST00000484924.5:n.115+2035G>T|||||||rs5763306||-1||HGNC|HGNC:19074|5||||||||Ensembl||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||1/1|ENST00000488052.1:n.115+2035G>T|||||||rs5763306||-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||7/19|ENST00000490103.6:c.714+2035G>T|||||||rs5763306||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||2/4|ENST00000492707.5:n.255+2035G>T|||||||rs5763306||-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||8/20|NM_001002877.2:c.714+2035G>T|||||||rs5763306||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||8/20|NM_001002878.1:c.714+2035G>T|||||||rs5763306||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29534589C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||7/19|NM_001002879.1:c.714+2035G>T|||||||rs5763306||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29534589C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||7/19|NM_003678.5:c.714+2035G>T|||||||rs5763306||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||7/20|XM_005261797.2:c.714+2035G>T|||||||rs5763306||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||8/21|XM_005261798.2:c.714+2035G>T|||||||rs5763306||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||7/20|XM_005261799.2:c.714+2035G>T|||||||rs5763306||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||8/21|XM_006724347.2:c.714+2035G>T|||||||rs5763306||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||8/21|XM_047441558.1:c.714+2035G>T|||||||rs5763306||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29534589C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||8/20|XM_047441559.1:c.714+2035G>T|||||||rs5763306||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29534589C>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|-3|25|2|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29821;gnomADv4_1_AC_joint_XX=15404;gnomADv4_1_AC_joint_XY=14417;gnomADv4_1_AF_grpmax_joint=0.426539;gnomADv4_1_AF_joint=0.198966;gnomADv4_1_AF_joint_XX=0.20027;gnomADv4_1_AF_joint_XY=0.197591;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=149880;gnomADv4_1_AN_joint_XX=76916;gnomADv4_1_AN_joint_XY=72964;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3264;gnomADv4_1_nhomalt_joint_XX=1687;gnomADv4_1_nhomalt_joint_XY=1577;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29535261 chr22_29535261_C_CA C CA 22 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=22;CADDIndel_PHREDscore=1.86;CADDIndel_Rawscore=0.144751;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||6/18|ENST00000358079.8:c.*344+1362dup|||||||rs572658824||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||7/19|ENST00000397871.5:c.714+1362dup|||||||rs572658824||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||8/20|ENST00000397872.5:c.714+1362dup|||||||rs572658824||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||8/20|ENST00000397873.6:c.714+1362dup|||||||rs572658824||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29535280dup|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA|1/2||ENST00000411969.1:n.129dup||129-130|||||rs572658824||-1||||5||||||||Ensembl|||||||chr22:g.29535280dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs572658824|4182|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl|||||||chr22:g.29535280dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs572658824|1405|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||8/22|ENST00000442555.5:c.714+1362dup|||||||rs572658824||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||3/8|ENST00000443089.5:c.292+1362dup|||||||rs572658824||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl|||||||chr22:g.29535280dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs572658824|4076|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||6/6|ENST00000475187.5:n.1542-331dup|||||||rs572658824||-1||HGNC|HGNC:19074|1||||||||Ensembl|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||1/7|ENST00000484924.5:n.115+1362dup|||||||rs572658824||-1||HGNC|HGNC:19074|5||||||||Ensembl|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||1/1|ENST00000488052.1:n.115+1362dup|||||||rs572658824||-1||HGNC|HGNC:19074|3||||||||Ensembl|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||7/19|ENST00000490103.6:c.714+1362dup|||||||rs572658824||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||2/4|ENST00000492707.5:n.255+1362dup|||||||rs572658824||-1||HGNC|HGNC:19074|3||||||||Ensembl|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||8/20|NM_001002877.2:c.714+1362dup|||||||rs572658824||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||8/20|NM_001002878.1:c.714+1362dup|||||||rs572658824||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||||OK|||chr22:g.29535280dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||7/19|NM_001002879.1:c.714+1362dup|||||||rs572658824||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||||OK|||chr22:g.29535280dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||7/19|NM_003678.5:c.714+1362dup|||||||rs572658824||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||7/20|XM_005261797.2:c.714+1362dup|||||||rs572658824||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||8/21|XM_005261798.2:c.714+1362dup|||||||rs572658824||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||7/20|XM_005261799.2:c.714+1362dup|||||||rs572658824||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||8/21|XM_006724347.2:c.714+1362dup|||||||rs572658824||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||8/21|XM_047441558.1:c.714+1362dup|||||||rs572658824||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq|||||||chr22:g.29535280dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||8/20|XM_047441559.1:c.714+1362dup|||||||rs572658824||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq|||||||chr22:g.29535280dup|||||||||||||;SpliceAI=CA|THOC5|0.00|0.00|0.00|0.00|-4|-10|-4|-8;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16950;gnomADv4_1_AC_joint_XX=9420;gnomADv4_1_AC_joint_XY=7530;gnomADv4_1_AF_grpmax_joint=0.490295;gnomADv4_1_AF_joint=0.290339;gnomADv4_1_AF_joint_XX=0.298744;gnomADv4_1_AF_joint_XY=0.280468;gnomADv4_1_AN_grpmax_joint=2370;gnomADv4_1_AN_joint=58380;gnomADv4_1_AN_joint_XX=31532;gnomADv4_1_AN_joint_XY=26848;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2198;gnomADv4_1_nhomalt_joint_XX=1229;gnomADv4_1_nhomalt_joint_XY=969;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29536449 chr22_29536449_C_A C A 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.05;CADD_Rawscore=-0.79903;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||6/18|ENST00000358079.8:c.*344+175G>T|||||||rs999458||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29536449C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||7/19|ENST00000397871.5:c.714+175G>T|||||||rs999458||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29536449C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||8/20|ENST00000397872.5:c.714+175G>T|||||||rs999458||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29536449C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||8/20|ENST00000397873.6:c.714+175G>T|||||||rs999458||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29536449C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs999458|1059|-1||||5||||||||Ensembl||C|C||||chr22:g.29536449C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs999458|2995|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||C|C||||chr22:g.29536449C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs999458|218|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||C|C||||chr22:g.29536449C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||8/22|ENST00000442555.5:c.714+175G>T|||||||rs999458||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29536449C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||3/8|ENST00000443089.5:c.292+175G>T|||||||rs999458||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||C|C||||chr22:g.29536449C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs999458|2889|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||C|C||||chr22:g.29536449C>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron|6/7||ENST00000475187.5:n.886G>T||886|||||rs999458||-1||HGNC|HGNC:19074|1||||||||Ensembl||C|C||||chr22:g.29536449C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||1/7|ENST00000484924.5:n.115+175G>T|||||||rs999458||-1||HGNC|HGNC:19074|5||||||||Ensembl||C|C||||chr22:g.29536449C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||1/1|ENST00000488052.1:n.115+175G>T|||||||rs999458||-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29536449C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||7/19|ENST00000490103.6:c.714+175G>T|||||||rs999458||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29536449C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||2/4|ENST00000492707.5:n.255+175G>T|||||||rs999458||-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29536449C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||8/20|NM_001002877.2:c.714+175G>T|||||||rs999458||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29536449C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||8/20|NM_001002878.1:c.714+175G>T|||||||rs999458||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29536449C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||7/19|NM_001002879.1:c.714+175G>T|||||||rs999458||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29536449C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||7/19|NM_003678.5:c.714+175G>T|||||||rs999458||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29536449C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||7/20|XM_005261797.2:c.714+175G>T|||||||rs999458||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29536449C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||8/21|XM_005261798.2:c.714+175G>T|||||||rs999458||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29536449C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||7/20|XM_005261799.2:c.714+175G>T|||||||rs999458||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29536449C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||8/21|XM_006724347.2:c.714+175G>T|||||||rs999458||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29536449C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||8/21|XM_047441558.1:c.714+175G>T|||||||rs999458||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29536449C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||8/20|XM_047441559.1:c.714+175G>T|||||||rs999458||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29536449C>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|9|33|33|31;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=145853;gnomADv4_1_AC_joint_XX=72850;gnomADv4_1_AC_joint_XY=73003;gnomADv4_1_AF_grpmax_joint=0.291877;gnomADv4_1_AF_joint=0.248814;gnomADv4_1_AF_joint_XX=0.256545;gnomADv4_1_AF_joint_XY=0.241549;gnomADv4_1_AN_grpmax_joint=35628;gnomADv4_1_AN_joint=586194;gnomADv4_1_AN_joint_XX=283966;gnomADv4_1_AN_joint_XY=302228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19050;gnomADv4_1_nhomalt_joint_XX=9629;gnomADv4_1_nhomalt_joint_XY=9421;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29537298 chr22_29537298_G_A G A 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.896;CADD_Rawscore=-0.046081;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||5/18|ENST00000358079.8:c.*230-560C>T|||||||rs73159014||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29537298G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||6/19|ENST00000397871.5:c.600-560C>T|||||||rs73159014||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29537298G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||7/20|ENST00000397872.5:c.600-560C>T|||||||rs73159014||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29537298G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||7/20|ENST00000397873.6:c.600-560C>T|||||||rs73159014||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29537298G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs73159014|1908|-1||||5||||||||Ensembl||G|G||||chr22:g.29537298G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs73159014|2146|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29537298G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||7/7|ENST00000440771.5:c.600-560C>T|||||||rs73159014||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29537298G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||7/22|ENST00000442555.5:c.600-560C>T|||||||rs73159014||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29537298G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||2/8|ENST00000443089.5:c.178-560C>T|||||||rs73159014||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29537298G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs73159014|2040|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||G|G||||chr22:g.29537298G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||5/6|ENST00000475187.5:n.597-560C>T|||||||rs73159014||-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29537298G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs73159014|560|-1||HGNC|HGNC:19074|5||||||||Ensembl||G|G||||chr22:g.29537298G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs73159014|560|-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29537298G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||6/19|ENST00000490103.6:c.600-560C>T|||||||rs73159014||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29537298G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||1/4|ENST00000492707.5:n.141-560C>T|||||||rs73159014||-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29537298G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||7/20|NM_001002877.2:c.600-560C>T|||||||rs73159014||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29537298G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||7/20|NM_001002878.1:c.600-560C>T|||||||rs73159014||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29537298G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||6/19|NM_001002879.1:c.600-560C>T|||||||rs73159014||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29537298G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||6/19|NM_003678.5:c.600-560C>T|||||||rs73159014||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29537298G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||6/20|XM_005261797.2:c.600-560C>T|||||||rs73159014||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29537298G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||7/21|XM_005261798.2:c.600-560C>T|||||||rs73159014||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29537298G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||6/20|XM_005261799.2:c.600-560C>T|||||||rs73159014||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29537298G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||7/21|XM_006724347.2:c.600-560C>T|||||||rs73159014||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29537298G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||7/21|XM_047441558.1:c.600-560C>T|||||||rs73159014||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29537298G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||7/20|XM_047441559.1:c.600-560C>T|||||||rs73159014||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29537298G>A|||1||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|-10|45|37|20;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9232;gnomADv4_1_AC_joint_XX=4543;gnomADv4_1_AC_joint_XY=4689;gnomADv4_1_AF_grpmax_joint=0.151057;gnomADv4_1_AF_joint=0.0606236;gnomADv4_1_AF_joint_XX=0.0583663;gnomADv4_1_AF_joint_XY=0.0629836;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152284;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=395;gnomADv4_1_nhomalt_joint_XX=185;gnomADv4_1_nhomalt_joint_XY=210;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29537583 chr22_29537583_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=3.548;CADD_Rawscore=0.324982;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||5/18|ENST00000358079.8:c.*230-845G>A|||||||rs5997488||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29537583C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||6/19|ENST00000397871.5:c.600-845G>A|||||||rs5997488||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29537583C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||7/20|ENST00000397872.5:c.600-845G>A|||||||rs5997488||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29537583C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||7/20|ENST00000397873.6:c.600-845G>A|||||||rs5997488||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29537583C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs5997488|2193|-1||||5||||||||Ensembl||C|C||||chr22:g.29537583C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs5997488|1861|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||C|C||||chr22:g.29537583C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||7/7|ENST00000440771.5:c.600-845G>A|||||||rs5997488||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||C|C||||chr22:g.29537583C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||7/22|ENST00000442555.5:c.600-845G>A|||||||rs5997488||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29537583C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||2/8|ENST00000443089.5:c.178-845G>A|||||||rs5997488||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||C|C||||chr22:g.29537583C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs5997488|1755|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||C|C||||chr22:g.29537583C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||5/6|ENST00000475187.5:n.597-845G>A|||||||rs5997488||-1||HGNC|HGNC:19074|1||||||||Ensembl||C|C||||chr22:g.29537583C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs5997488|845|-1||HGNC|HGNC:19074|5||||||||Ensembl||C|C||||chr22:g.29537583C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs5997488|845|-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29537583C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||6/19|ENST00000490103.6:c.600-845G>A|||||||rs5997488||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29537583C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||1/4|ENST00000492707.5:n.141-845G>A|||||||rs5997488||-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29537583C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||7/20|NM_001002877.2:c.600-845G>A|||||||rs5997488||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29537583C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||7/20|NM_001002878.1:c.600-845G>A|||||||rs5997488||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29537583C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||6/19|NM_001002879.1:c.600-845G>A|||||||rs5997488||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29537583C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||6/19|NM_003678.5:c.600-845G>A|||||||rs5997488||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29537583C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||6/20|XM_005261797.2:c.600-845G>A|||||||rs5997488||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29537583C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||7/21|XM_005261798.2:c.600-845G>A|||||||rs5997488||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29537583C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||6/20|XM_005261799.2:c.600-845G>A|||||||rs5997488||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29537583C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||7/21|XM_006724347.2:c.600-845G>A|||||||rs5997488||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29537583C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||7/21|XM_047441558.1:c.600-845G>A|||||||rs5997488||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29537583C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||7/20|XM_047441559.1:c.600-845G>A|||||||rs5997488||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29537583C>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|6|-23|-1|47;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37521;gnomADv4_1_AC_joint_XX=19551;gnomADv4_1_AC_joint_XY=17970;gnomADv4_1_AF_grpmax_joint=0.316907;gnomADv4_1_AF_joint=0.247552;gnomADv4_1_AF_joint_XX=0.252238;gnomADv4_1_AF_joint_XY=0.242648;gnomADv4_1_AN_grpmax_joint=5134;gnomADv4_1_AN_joint=151568;gnomADv4_1_AN_joint_XX=77510;gnomADv4_1_AN_joint_XY=74058;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4727;gnomADv4_1_nhomalt_joint_XX=2467;gnomADv4_1_nhomalt_joint_XY=2260;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29537638 chr22_29537638_T_C T C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=4.348;CADD_Rawscore=0.396249;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||5/18|ENST00000358079.8:c.*230-900A>G|||||||rs5752940||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29537638T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||6/19|ENST00000397871.5:c.600-900A>G|||||||rs5752940||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29537638T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||7/20|ENST00000397872.5:c.600-900A>G|||||||rs5752940||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29537638T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||7/20|ENST00000397873.6:c.600-900A>G|||||||rs5752940||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29537638T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs5752940|2248|-1||||5||||||||Ensembl||T|T||||chr22:g.29537638T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs5752940|1806|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||T|T||||chr22:g.29537638T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||7/7|ENST00000440771.5:c.600-900A>G|||||||rs5752940||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||T|T||||chr22:g.29537638T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||7/22|ENST00000442555.5:c.600-900A>G|||||||rs5752940||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29537638T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||2/8|ENST00000443089.5:c.178-900A>G|||||||rs5752940||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||T|T||||chr22:g.29537638T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs5752940|1700|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||T|T||||chr22:g.29537638T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||5/6|ENST00000475187.5:n.597-900A>G|||||||rs5752940||-1||HGNC|HGNC:19074|1||||||||Ensembl||T|T||||chr22:g.29537638T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs5752940|900|-1||HGNC|HGNC:19074|5||||||||Ensembl||T|T||||chr22:g.29537638T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs5752940|900|-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29537638T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||6/19|ENST00000490103.6:c.600-900A>G|||||||rs5752940||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29537638T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||1/4|ENST00000492707.5:n.141-900A>G|||||||rs5752940||-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29537638T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||7/20|NM_001002877.2:c.600-900A>G|||||||rs5752940||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29537638T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||7/20|NM_001002878.1:c.600-900A>G|||||||rs5752940||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29537638T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||6/19|NM_001002879.1:c.600-900A>G|||||||rs5752940||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29537638T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||6/19|NM_003678.5:c.600-900A>G|||||||rs5752940||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29537638T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||6/20|XM_005261797.2:c.600-900A>G|||||||rs5752940||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29537638T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||7/21|XM_005261798.2:c.600-900A>G|||||||rs5752940||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29537638T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||6/20|XM_005261799.2:c.600-900A>G|||||||rs5752940||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29537638T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||7/21|XM_006724347.2:c.600-900A>G|||||||rs5752940||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29537638T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||7/21|XM_047441558.1:c.600-900A>G|||||||rs5752940||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29537638T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||7/20|XM_047441559.1:c.600-900A>G|||||||rs5752940||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29537638T>C|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|-49|-8|36|-8;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30111;gnomADv4_1_AC_joint_XX=15505;gnomADv4_1_AC_joint_XY=14606;gnomADv4_1_AF_grpmax_joint=0.426482;gnomADv4_1_AF_joint=0.198289;gnomADv4_1_AF_joint_XX=0.19975;gnomADv4_1_AF_joint_XY=0.196762;gnomADv4_1_AN_grpmax_joint=5128;gnomADv4_1_AN_joint=151854;gnomADv4_1_AN_joint_XX=77622;gnomADv4_1_AN_joint_XY=74232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3276;gnomADv4_1_nhomalt_joint_XX=1687;gnomADv4_1_nhomalt_joint_XY=1589;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29537848 chr22_29537848_A_G A G 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.186;CADD_Rawscore=0.187572;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||5/18|ENST00000358079.8:c.*230-1110T>C|||||||rs112883011||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29537848A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||6/19|ENST00000397871.5:c.600-1110T>C|||||||rs112883011||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29537848A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||7/20|ENST00000397872.5:c.600-1110T>C|||||||rs112883011||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29537848A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||7/20|ENST00000397873.6:c.600-1110T>C|||||||rs112883011||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29537848A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs112883011|2458|-1||||5||||||||Ensembl||A|A||||chr22:g.29537848A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs112883011|1596|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||A|A||||chr22:g.29537848A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||7/7|ENST00000440771.5:c.600-1110T>C|||||||rs112883011||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||A|A||||chr22:g.29537848A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||7/22|ENST00000442555.5:c.600-1110T>C|||||||rs112883011||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29537848A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||2/8|ENST00000443089.5:c.178-1110T>C|||||||rs112883011||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||A|A||||chr22:g.29537848A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs112883011|1490|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||A|A||||chr22:g.29537848A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||5/6|ENST00000475187.5:n.597-1110T>C|||||||rs112883011||-1||HGNC|HGNC:19074|1||||||||Ensembl||A|A||||chr22:g.29537848A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs112883011|1110|-1||HGNC|HGNC:19074|5||||||||Ensembl||A|A||||chr22:g.29537848A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs112883011|1110|-1||HGNC|HGNC:19074|3||||||||Ensembl||A|A||||chr22:g.29537848A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||6/19|ENST00000490103.6:c.600-1110T>C|||||||rs112883011||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29537848A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||1/4|ENST00000492707.5:n.141-1110T>C|||||||rs112883011||-1||HGNC|HGNC:19074|3||||||||Ensembl||A|A||||chr22:g.29537848A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||7/20|NM_001002877.2:c.600-1110T>C|||||||rs112883011||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29537848A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||7/20|NM_001002878.1:c.600-1110T>C|||||||rs112883011||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29537848A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||6/19|NM_001002879.1:c.600-1110T>C|||||||rs112883011||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29537848A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||6/19|NM_003678.5:c.600-1110T>C|||||||rs112883011||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29537848A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||6/20|XM_005261797.2:c.600-1110T>C|||||||rs112883011||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29537848A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||7/21|XM_005261798.2:c.600-1110T>C|||||||rs112883011||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29537848A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||6/20|XM_005261799.2:c.600-1110T>C|||||||rs112883011||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29537848A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||7/21|XM_006724347.2:c.600-1110T>C|||||||rs112883011||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29537848A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||7/21|XM_047441558.1:c.600-1110T>C|||||||rs112883011||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29537848A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||7/20|XM_047441559.1:c.600-1110T>C|||||||rs112883011||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29537848A>G|||||||||||||;SpliceAI=G|THOC5|0.03|0.00|0.00|0.00|36|34|-34|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30134;gnomADv4_1_AC_joint_XX=15511;gnomADv4_1_AC_joint_XY=14623;gnomADv4_1_AF_grpmax_joint=0.425156;gnomADv4_1_AF_joint=0.198107;gnomADv4_1_AF_joint_XX=0.199524;gnomADv4_1_AF_joint_XY=0.196625;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3283;gnomADv4_1_nhomalt_joint_XX=1691;gnomADv4_1_nhomalt_joint_XY=1592;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29537886 chr22_29537886_T_C T C 56 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.186;CADD_Rawscore=0.292006;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||5/18|ENST00000358079.8:c.*230-1148A>G|||||||rs74395461||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29537886T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||6/19|ENST00000397871.5:c.600-1148A>G|||||||rs74395461||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29537886T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||7/20|ENST00000397872.5:c.600-1148A>G|||||||rs74395461||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29537886T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||7/20|ENST00000397873.6:c.600-1148A>G|||||||rs74395461||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29537886T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs74395461|2496|-1||||5||||||||Ensembl||T|T||||chr22:g.29537886T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs74395461|1558|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||T|T||||chr22:g.29537886T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||7/7|ENST00000440771.5:c.600-1148A>G|||||||rs74395461||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||T|T||||chr22:g.29537886T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||7/22|ENST00000442555.5:c.600-1148A>G|||||||rs74395461||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29537886T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||2/8|ENST00000443089.5:c.178-1148A>G|||||||rs74395461||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||T|T||||chr22:g.29537886T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs74395461|1452|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||T|T||||chr22:g.29537886T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||5/6|ENST00000475187.5:n.597-1148A>G|||||||rs74395461||-1||HGNC|HGNC:19074|1||||||||Ensembl||T|T||||chr22:g.29537886T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs74395461|1148|-1||HGNC|HGNC:19074|5||||||||Ensembl||T|T||||chr22:g.29537886T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs74395461|1148|-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29537886T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||6/19|ENST00000490103.6:c.600-1148A>G|||||||rs74395461||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29537886T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||1/4|ENST00000492707.5:n.141-1148A>G|||||||rs74395461||-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29537886T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||7/20|NM_001002877.2:c.600-1148A>G|||||||rs74395461||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29537886T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||7/20|NM_001002878.1:c.600-1148A>G|||||||rs74395461||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29537886T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||6/19|NM_001002879.1:c.600-1148A>G|||||||rs74395461||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29537886T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||6/19|NM_003678.5:c.600-1148A>G|||||||rs74395461||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29537886T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||6/20|XM_005261797.2:c.600-1148A>G|||||||rs74395461||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29537886T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||7/21|XM_005261798.2:c.600-1148A>G|||||||rs74395461||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29537886T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||6/20|XM_005261799.2:c.600-1148A>G|||||||rs74395461||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29537886T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||7/21|XM_006724347.2:c.600-1148A>G|||||||rs74395461||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29537886T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||7/21|XM_047441558.1:c.600-1148A>G|||||||rs74395461||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29537886T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||7/20|XM_047441559.1:c.600-1148A>G|||||||rs74395461||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29537886T>C|||||||||||||;SpliceAI=C|THOC5|0.04|0.00|0.00|0.00|-23|-2|-4|-36;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30157;gnomADv4_1_AC_joint_XX=15520;gnomADv4_1_AC_joint_XY=14637;gnomADv4_1_AF_grpmax_joint=0.426026;gnomADv4_1_AF_joint=0.198206;gnomADv4_1_AF_joint_XX=0.199594;gnomADv4_1_AF_joint_XY=0.196755;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3290;gnomADv4_1_nhomalt_joint_XX=1693;gnomADv4_1_nhomalt_joint_XY=1597;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29538558 chr22_29538558_G_A G A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=11.68;CADD_Rawscore=1.1345;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||5/18|ENST00000358079.8:c.*229+772C>T|||||||rs57995869||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29538558G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||6/19|ENST00000397871.5:c.599+772C>T|||||||rs57995869||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29538558G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||7/20|ENST00000397872.5:c.599+772C>T|||||||rs57995869||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29538558G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||7/20|ENST00000397873.6:c.599+772C>T|||||||rs57995869||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29538558G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs57995869|3168|-1||||5||||||||Ensembl||G|G||||chr22:g.29538558G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs57995869|4396|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29538558G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs57995869|4945|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29538558G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs57995869|886|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29538558G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||7/7|ENST00000440771.5:c.599+772C>T|||||||rs57995869||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29538558G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||7/22|ENST00000442555.5:c.599+772C>T|||||||rs57995869||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29538558G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||2/8|ENST00000443089.5:c.177+772C>T|||||||rs57995869||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29538558G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs57995869|780|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||G|G||||chr22:g.29538558G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||5/6|ENST00000475187.5:n.596+772C>T|||||||rs57995869||-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29538558G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs57995869|1820|-1||HGNC|HGNC:19074|5||||||||Ensembl||G|G||||chr22:g.29538558G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs57995869|1820|-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29538558G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||6/19|ENST00000490103.6:c.599+772C>T|||||||rs57995869||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29538558G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||1/4|ENST00000492707.5:n.140+772C>T|||||||rs57995869||-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29538558G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||7/20|NM_001002877.2:c.599+772C>T|||||||rs57995869||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29538558G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||7/20|NM_001002878.1:c.599+772C>T|||||||rs57995869||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29538558G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||6/19|NM_001002879.1:c.599+772C>T|||||||rs57995869||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29538558G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||6/19|NM_003678.5:c.599+772C>T|||||||rs57995869||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29538558G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||6/20|XM_005261797.2:c.599+772C>T|||||||rs57995869||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29538558G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||7/21|XM_005261798.2:c.599+772C>T|||||||rs57995869||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29538558G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||6/20|XM_005261799.2:c.599+772C>T|||||||rs57995869||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29538558G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||7/21|XM_006724347.2:c.599+772C>T|||||||rs57995869||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29538558G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||7/21|XM_047441558.1:c.599+772C>T|||||||rs57995869||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29538558G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||7/20|XM_047441559.1:c.599+772C>T|||||||rs57995869||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29538558G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|46|-47|-20|0;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21327;gnomADv4_1_AC_joint_XX=10930;gnomADv4_1_AC_joint_XY=10397;gnomADv4_1_AF_grpmax_joint=0.412788;gnomADv4_1_AF_joint=0.140427;gnomADv4_1_AF_joint_XX=0.140789;gnomADv4_1_AF_joint_XY=0.14005;gnomADv4_1_AN_grpmax_joint=5114;gnomADv4_1_AN_joint=151872;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1952;gnomADv4_1_nhomalt_joint_XX=991;gnomADv4_1_nhomalt_joint_XY=961;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29538800 chr22_29538801_G_A;chr22_29538800_GGA_G GGA G 14 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=12;CADDIndel_PHREDscore=0.413;CADDIndel_Rawscore=-0.240794;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||5/18|ENST00000358079.8:c.*229+528_*229+529del|||||||rs534049324||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||6/19|ENST00000397871.5:c.599+528_599+529del|||||||rs534049324||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||7/20|ENST00000397872.5:c.599+528_599+529del|||||||rs534049324||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||7/20|ENST00000397873.6:c.599+528_599+529del|||||||rs534049324||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs534049324|3411|-1||||5||||||||Ensembl||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs534049324|4152|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs534049324|4701|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs534049324|642|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||7/7|ENST00000440771.5:c.599+528_599+529del|||||||rs534049324||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||7/22|ENST00000442555.5:c.599+528_599+529del|||||||rs534049324||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||2/8|ENST00000443089.5:c.177+528_177+529del|||||||rs534049324||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs534049324|536|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||5/6|ENST00000475187.5:n.596+528_596+529del|||||||rs534049324||-1||HGNC|HGNC:19074|1||||||||Ensembl||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs534049324|2063|-1||HGNC|HGNC:19074|5||||||||Ensembl||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs534049324|2063|-1||HGNC|HGNC:19074|3||||||||Ensembl||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||6/19|ENST00000490103.6:c.599+528_599+529del|||||||rs534049324||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||1/4|ENST00000492707.5:n.140+528_140+529del|||||||rs534049324||-1||HGNC|HGNC:19074|3||||||||Ensembl||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||7/20|NM_001002877.2:c.599+528_599+529del|||||||rs534049324||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||7/20|NM_001002878.1:c.599+528_599+529del|||||||rs534049324||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||GA|GA|OK|||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||6/19|NM_001002879.1:c.599+528_599+529del|||||||rs534049324||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||GA|GA|OK|||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||6/19|NM_003678.5:c.599+528_599+529del|||||||rs534049324||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||6/20|XM_005261797.2:c.599+528_599+529del|||||||rs534049324||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||7/21|XM_005261798.2:c.599+528_599+529del|||||||rs534049324||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||6/20|XM_005261799.2:c.599+528_599+529del|||||||rs534049324||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||7/21|XM_006724347.2:c.599+528_599+529del|||||||rs534049324||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||7/21|XM_047441558.1:c.599+528_599+529del|||||||rs534049324||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||GA|GA||||chr22:g.29538801_29538802del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||7/20|XM_047441559.1:c.599+528_599+529del|||||||rs534049324||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||GA|GA||||chr22:g.29538801_29538802del|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|-5|-7|49|32;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12192;gnomADv4_1_AC_joint_XX=6842;gnomADv4_1_AC_joint_XY=5350;gnomADv4_1_AF_grpmax_joint=0.555556;gnomADv4_1_AF_joint=0.377274;gnomADv4_1_AF_joint_XX=0.382962;gnomADv4_1_AF_joint_XY=0.370242;gnomADv4_1_AN_grpmax_joint=36;gnomADv4_1_AN_joint=32316;gnomADv4_1_AN_joint_XX=17866;gnomADv4_1_AN_joint_XY=14450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3115;gnomADv4_1_nhomalt_joint_XX=1739;gnomADv4_1_nhomalt_joint_XY=1376;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29538801 chr22_29538801_G_A;chr22_29538800_GGA_G G A 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=14;CADD_PHREDscore=0.721;CADD_Rawscore=-0.101291;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||5/18|ENST00000358079.8:c.*229+529C>T|||||||rs5763309||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29538801G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||6/19|ENST00000397871.5:c.599+529C>T|||||||rs5763309||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29538801G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||7/20|ENST00000397872.5:c.599+529C>T|||||||rs5763309||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29538801G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||7/20|ENST00000397873.6:c.599+529C>T|||||||rs5763309||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29538801G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs5763309|3411|-1||||5||||||||Ensembl||G|G||||chr22:g.29538801G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs5763309|4153|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29538801G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs5763309|4702|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29538801G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs5763309|643|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29538801G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||7/7|ENST00000440771.5:c.599+529C>T|||||||rs5763309||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29538801G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||7/22|ENST00000442555.5:c.599+529C>T|||||||rs5763309||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29538801G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||2/8|ENST00000443089.5:c.177+529C>T|||||||rs5763309||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29538801G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs5763309|537|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||G|G||||chr22:g.29538801G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||5/6|ENST00000475187.5:n.596+529C>T|||||||rs5763309||-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29538801G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs5763309|2063|-1||HGNC|HGNC:19074|5||||||||Ensembl||G|G||||chr22:g.29538801G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs5763309|2063|-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29538801G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||6/19|ENST00000490103.6:c.599+529C>T|||||||rs5763309||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29538801G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||1/4|ENST00000492707.5:n.140+529C>T|||||||rs5763309||-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29538801G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||7/20|NM_001002877.2:c.599+529C>T|||||||rs5763309||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29538801G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||7/20|NM_001002878.1:c.599+529C>T|||||||rs5763309||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29538801G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||6/19|NM_001002879.1:c.599+529C>T|||||||rs5763309||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29538801G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||6/19|NM_003678.5:c.599+529C>T|||||||rs5763309||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29538801G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||6/20|XM_005261797.2:c.599+529C>T|||||||rs5763309||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29538801G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||7/21|XM_005261798.2:c.599+529C>T|||||||rs5763309||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29538801G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||6/20|XM_005261799.2:c.599+529C>T|||||||rs5763309||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29538801G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||7/21|XM_006724347.2:c.599+529C>T|||||||rs5763309||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29538801G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||7/21|XM_047441558.1:c.599+529C>T|||||||rs5763309||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29538801G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||7/20|XM_047441559.1:c.599+529C>T|||||||rs5763309||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29538801G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|-32|-6|31|48;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82034;gnomADv4_1_AC_joint_XX=43547;gnomADv4_1_AC_joint_XY=38487;gnomADv4_1_AF_grpmax_joint=0.955904;gnomADv4_1_AF_joint=0.891907;gnomADv4_1_AF_joint_XX=0.887772;gnomADv4_1_AF_joint_XY=0.896631;gnomADv4_1_AN_grpmax_joint=2744;gnomADv4_1_AN_joint=91976;gnomADv4_1_AN_joint_XX=49052;gnomADv4_1_AN_joint_XY=42924;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=36177;gnomADv4_1_nhomalt_joint_XX=19091;gnomADv4_1_nhomalt_joint_XY=17086;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29538848 chr22_29538848_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.477;CADD_Rawscore=0.083989;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||5/18|ENST00000358079.8:c.*229+482G>A|||||||rs4479529||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29538848C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||6/19|ENST00000397871.5:c.599+482G>A|||||||rs4479529||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29538848C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||7/20|ENST00000397872.5:c.599+482G>A|||||||rs4479529||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29538848C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||7/20|ENST00000397873.6:c.599+482G>A|||||||rs4479529||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29538848C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs4479529|3458|-1||||5||||||||Ensembl||C|C||||chr22:g.29538848C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs4479529|4106|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||C|C||||chr22:g.29538848C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs4479529|4655|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||C|C||||chr22:g.29538848C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs4479529|596|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||C|C||||chr22:g.29538848C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||7/7|ENST00000440771.5:c.599+482G>A|||||||rs4479529||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||C|C||||chr22:g.29538848C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||7/22|ENST00000442555.5:c.599+482G>A|||||||rs4479529||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29538848C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||2/8|ENST00000443089.5:c.177+482G>A|||||||rs4479529||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||C|C||||chr22:g.29538848C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs4479529|490|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||C|C||||chr22:g.29538848C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||5/6|ENST00000475187.5:n.596+482G>A|||||||rs4479529||-1||HGNC|HGNC:19074|1||||||||Ensembl||C|C||||chr22:g.29538848C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs4479529|2110|-1||HGNC|HGNC:19074|5||||||||Ensembl||C|C||||chr22:g.29538848C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs4479529|2110|-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29538848C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||6/19|ENST00000490103.6:c.599+482G>A|||||||rs4479529||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29538848C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||1/4|ENST00000492707.5:n.140+482G>A|||||||rs4479529||-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29538848C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||7/20|NM_001002877.2:c.599+482G>A|||||||rs4479529||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29538848C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||7/20|NM_001002878.1:c.599+482G>A|||||||rs4479529||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29538848C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||6/19|NM_001002879.1:c.599+482G>A|||||||rs4479529||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29538848C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||6/19|NM_003678.5:c.599+482G>A|||||||rs4479529||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29538848C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||6/20|XM_005261797.2:c.599+482G>A|||||||rs4479529||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29538848C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||7/21|XM_005261798.2:c.599+482G>A|||||||rs4479529||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29538848C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||6/20|XM_005261799.2:c.599+482G>A|||||||rs4479529||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29538848C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||7/21|XM_006724347.2:c.599+482G>A|||||||rs4479529||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29538848C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||7/21|XM_047441558.1:c.599+482G>A|||||||rs4479529||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29538848C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||7/20|XM_047441559.1:c.599+482G>A|||||||rs4479529||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29538848C>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-43|-35|42|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35518;gnomADv4_1_AC_joint_XX=18793;gnomADv4_1_AC_joint_XY=16725;gnomADv4_1_AF_grpmax_joint=0.314344;gnomADv4_1_AF_joint=0.246359;gnomADv4_1_AF_joint_XX=0.252153;gnomADv4_1_AF_joint_XY=0.240157;gnomADv4_1_AN_grpmax_joint=4880;gnomADv4_1_AN_joint=144172;gnomADv4_1_AN_joint_XX=74530;gnomADv4_1_AN_joint_XY=69642;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4494;gnomADv4_1_nhomalt_joint_XX=2382;gnomADv4_1_nhomalt_joint_XY=2112;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29539109 chr22_29539109_C_CA;chr22_29539109_CA_C C CA 28 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=28;CADDIndel_PHREDscore=0.59;CADDIndel_Rawscore=-0.151913;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||5/18|ENST00000358079.8:c.*229+220dup|||||||rs373724250||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl|||||||chr22:g.29539131dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||6/19|ENST00000397871.5:c.599+220dup|||||||rs373724250||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29539131dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||7/20|ENST00000397872.5:c.599+220dup|||||||rs373724250||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29539131dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||7/20|ENST00000397873.6:c.599+220dup|||||||rs373724250||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29539131dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs373724250|3719|-1||||5||||||||Ensembl|||||||chr22:g.29539131dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs373724250|3844|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl|||||||chr22:g.29539131dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs373724250|4393|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl|||||||chr22:g.29539131dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs373724250|334|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl|||||||chr22:g.29539131dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||7/7|ENST00000440771.5:c.599+220dup|||||||rs373724250||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl|||||||chr22:g.29539131dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||7/22|ENST00000442555.5:c.599+220dup|||||||rs373724250||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl|||||||chr22:g.29539131dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||2/8|ENST00000443089.5:c.177+220dup|||||||rs373724250||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl|||||||chr22:g.29539131dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs373724250|228|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl|||||||chr22:g.29539131dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||5/6|ENST00000475187.5:n.596+220dup|||||||rs373724250||-1||HGNC|HGNC:19074|1||||||||Ensembl|||||||chr22:g.29539131dup|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs373724250|2371|-1||HGNC|HGNC:19074|5||||||||Ensembl|||||||chr22:g.29539131dup|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs373724250|2371|-1||HGNC|HGNC:19074|3||||||||Ensembl|||||||chr22:g.29539131dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||6/19|ENST00000490103.6:c.599+220dup|||||||rs373724250||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29539131dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||1/4|ENST00000492707.5:n.140+220dup|||||||rs373724250||-1||HGNC|HGNC:19074|3||||||||Ensembl|||||||chr22:g.29539131dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||7/20|NM_001002877.2:c.599+220dup|||||||rs373724250||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq|||||||chr22:g.29539131dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||7/20|NM_001002878.1:c.599+220dup|||||||rs373724250||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||||OK|||chr22:g.29539131dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||6/19|NM_001002879.1:c.599+220dup|||||||rs373724250||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||||OK|||chr22:g.29539131dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||6/19|NM_003678.5:c.599+220dup|||||||rs373724250||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq|||||||chr22:g.29539131dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||6/20|XM_005261797.2:c.599+220dup|||||||rs373724250||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq|||||||chr22:g.29539131dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||7/21|XM_005261798.2:c.599+220dup|||||||rs373724250||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq|||||||chr22:g.29539131dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||6/20|XM_005261799.2:c.599+220dup|||||||rs373724250||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq|||||||chr22:g.29539131dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||7/21|XM_006724347.2:c.599+220dup|||||||rs373724250||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq|||||||chr22:g.29539131dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||7/21|XM_047441558.1:c.599+220dup|||||||rs373724250||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq|||||||chr22:g.29539131dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||7/20|XM_047441559.1:c.599+220dup|||||||rs373724250||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq|||||||chr22:g.29539131dup|||||||||||||;SpliceAI=CA|THOC5|0.00|0.00|0.00|0.00|2|-3|2|3;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1857;gnomADv4_1_AC_joint_XX=988;gnomADv4_1_AC_joint_XY=869;gnomADv4_1_AF_grpmax_joint=0.0625468;gnomADv4_1_AF_joint=0.0550385;gnomADv4_1_AF_joint_XX=0.0565023;gnomADv4_1_AF_joint_XY=0.0534638;gnomADv4_1_AN_grpmax_joint=16020;gnomADv4_1_AN_joint=33740;gnomADv4_1_AN_joint_XX=17486;gnomADv4_1_AN_joint_XY=16254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=20;gnomADv4_1_nhomalt_joint_XX=16;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29539109 chr22_29539109_C_CA;chr22_29539109_CA_C CA C 28 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=28;CADDIndel_PHREDscore=0.282;CADDIndel_Rawscore=-0.337998;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||5/18|ENST00000358079.8:c.*229+220del|||||||rs373724250||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29539131del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||6/19|ENST00000397871.5:c.599+220del|||||||rs373724250||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29539131del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||7/20|ENST00000397872.5:c.599+220del|||||||rs373724250||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29539131del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||7/20|ENST00000397873.6:c.599+220del|||||||rs373724250||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29539131del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs373724250|3720|-1||||5||||||||Ensembl||A|A||||chr22:g.29539131del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs373724250|3844|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||A|A||||chr22:g.29539131del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs373724250|4393|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||A|A||||chr22:g.29539131del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs373724250|334|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||A|A||||chr22:g.29539131del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||7/7|ENST00000440771.5:c.599+220del|||||||rs373724250||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||A|A||||chr22:g.29539131del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||7/22|ENST00000442555.5:c.599+220del|||||||rs373724250||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29539131del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||2/8|ENST00000443089.5:c.177+220del|||||||rs373724250||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||A|A||||chr22:g.29539131del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs373724250|228|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||A|A||||chr22:g.29539131del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||5/6|ENST00000475187.5:n.596+220del|||||||rs373724250||-1||HGNC|HGNC:19074|1||||||||Ensembl||A|A||||chr22:g.29539131del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs373724250|2372|-1||HGNC|HGNC:19074|5||||||||Ensembl||A|A||||chr22:g.29539131del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs373724250|2372|-1||HGNC|HGNC:19074|3||||||||Ensembl||A|A||||chr22:g.29539131del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||6/19|ENST00000490103.6:c.599+220del|||||||rs373724250||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29539131del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||1/4|ENST00000492707.5:n.140+220del|||||||rs373724250||-1||HGNC|HGNC:19074|3||||||||Ensembl||A|A||||chr22:g.29539131del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||7/20|NM_001002877.2:c.599+220del|||||||rs373724250||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29539131del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||7/20|NM_001002878.1:c.599+220del|||||||rs373724250||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29539131del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||6/19|NM_001002879.1:c.599+220del|||||||rs373724250||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29539131del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||6/19|NM_003678.5:c.599+220del|||||||rs373724250||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29539131del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||6/20|XM_005261797.2:c.599+220del|||||||rs373724250||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29539131del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||7/21|XM_005261798.2:c.599+220del|||||||rs373724250||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29539131del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||6/20|XM_005261799.2:c.599+220del|||||||rs373724250||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29539131del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||7/21|XM_006724347.2:c.599+220del|||||||rs373724250||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29539131del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||7/21|XM_047441558.1:c.599+220del|||||||rs373724250||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29539131del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||7/20|XM_047441559.1:c.599+220del|||||||rs373724250||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29539131del|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|-6|-3|-2|3;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=181;gnomADv4_1_AC_joint_XX=93;gnomADv4_1_AC_joint_XY=88;gnomADv4_1_AF_grpmax_joint=0.0121951;gnomADv4_1_AF_joint=0.00491127;gnomADv4_1_AF_joint_XX=0.0048377;gnomADv4_1_AF_joint_XY=0.00499149;gnomADv4_1_AN_grpmax_joint=82;gnomADv4_1_AN_joint=36854;gnomADv4_1_AN_joint_XX=19224;gnomADv4_1_AN_joint_XY=17630;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29539715 chr22_29539715_G_A G A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=4.136;CADD_Rawscore=0.377348;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*83-239C>T|||||||rs9613942||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.453-239C>T|||||||rs9613942||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.453-239C>T|||||||rs9613942||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.453-239C>T|||||||rs9613942||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29539715G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs9613942|4325|-1||||5||||||||Ensembl||G|G||||chr22:g.29539715G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs9613942|3239|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29539715G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs9613942|3788|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.453-239C>T|||||||rs9613942||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.453-239C>T|||||||rs9613942||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.453-239C>T|||||||rs9613942||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.31-239C>T|||||||rs9613942||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.390-239C>T|||||||rs9613942||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.450-239C>T|||||||rs9613942||-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29539715G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs9613942|2977|-1||HGNC|HGNC:19074|5||||||||Ensembl||G|G||||chr22:g.29539715G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs9613942|2977|-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.453-239C>T|||||||rs9613942||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29539715G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs9613942|246|-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.453-239C>T|||||||rs9613942||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.453-239C>T|||||||rs9613942||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.453-239C>T|||||||rs9613942||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.453-239C>T|||||||rs9613942||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.453-239C>T|||||||rs9613942||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.453-239C>T|||||||rs9613942||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.453-239C>T|||||||rs9613942||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.453-239C>T|||||||rs9613942||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.453-239C>T|||||||rs9613942||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29539715G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.453-239C>T|||||||rs9613942||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29539715G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|-26|-4|-26|-25;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38414;gnomADv4_1_AC_joint_XX=20038;gnomADv4_1_AC_joint_XY=18376;gnomADv4_1_AF_grpmax_joint=0.316279;gnomADv4_1_AF_joint=0.25273;gnomADv4_1_AF_joint_XX=0.257783;gnomADv4_1_AF_joint_XY=0.247442;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151996;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4913;gnomADv4_1_nhomalt_joint_XX=2585;gnomADv4_1_nhomalt_joint_XY=2328;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29539784 chr22_29539784_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.951;CADD_Rawscore=0.548238;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*83-308C>T|||||||rs4823046||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.453-308C>T|||||||rs4823046||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.453-308C>T|||||||rs4823046||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.453-308C>T|||||||rs4823046||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29539784G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs4823046|4394|-1||||5||||||||Ensembl||G|G||||chr22:g.29539784G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs4823046|3170|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29539784G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs4823046|3719|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.453-308C>T|||||||rs4823046||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.453-308C>T|||||||rs4823046||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.453-308C>T|||||||rs4823046||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.31-308C>T|||||||rs4823046||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.390-308C>T|||||||rs4823046||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.450-308C>T|||||||rs4823046||-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29539784G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs4823046|3046|-1||HGNC|HGNC:19074|5||||||||Ensembl||G|G||||chr22:g.29539784G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs4823046|3046|-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.453-308C>T|||||||rs4823046||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29539784G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs4823046|315|-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.453-308C>T|||||||rs4823046||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.453-308C>T|||||||rs4823046||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.453-308C>T|||||||rs4823046||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.453-308C>T|||||||rs4823046||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.453-308C>T|||||||rs4823046||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.453-308C>T|||||||rs4823046||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.453-308C>T|||||||rs4823046||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.453-308C>T|||||||rs4823046||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.453-308C>T|||||||rs4823046||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29539784G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.453-308C>T|||||||rs4823046||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29539784G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|-13|26|-13|26;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=128320;gnomADv4_1_AC_joint_XX=65616;gnomADv4_1_AC_joint_XY=62704;gnomADv4_1_AF_grpmax_joint=0.950405;gnomADv4_1_AF_joint=0.843556;gnomADv4_1_AF_joint_XX=0.843957;gnomADv4_1_AF_joint_XY=0.843136;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=54225;gnomADv4_1_nhomalt_joint_XX=27734;gnomADv4_1_nhomalt_joint_XY=26491;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29540049 chr22_29540049_G_A G A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=3.638;CADD_Rawscore=0.333065;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*83-573C>T|||||||rs10427824||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.453-573C>T|||||||rs10427824||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.453-573C>T|||||||rs10427824||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.453-573C>T|||||||rs10427824||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29540049G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000234208|Transcript|ENST00000411969|lncRNA||||||||||rs10427824|4659|-1||||5||||||||Ensembl||G|G||||chr22:g.29540049G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs10427824|2905|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29540049G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs10427824|3454|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.453-573C>T|||||||rs10427824||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.453-573C>T|||||||rs10427824||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.453-573C>T|||||||rs10427824||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.31-573C>T|||||||rs10427824||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.390-573C>T|||||||rs10427824||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.450-573C>T|||||||rs10427824||-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29540049G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs10427824|3311|-1||HGNC|HGNC:19074|5||||||||Ensembl||G|G||||chr22:g.29540049G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs10427824|3311|-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.453-573C>T|||||||rs10427824||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29540049G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs10427824|580|-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.453-573C>T|||||||rs10427824||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.453-573C>T|||||||rs10427824||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.453-573C>T|||||||rs10427824||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.453-573C>T|||||||rs10427824||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.453-573C>T|||||||rs10427824||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.453-573C>T|||||||rs10427824||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.453-573C>T|||||||rs10427824||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.453-573C>T|||||||rs10427824||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.453-573C>T|||||||rs10427824||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29540049G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.453-573C>T|||||||rs10427824||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29540049G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.01|0.00|-15|13|13|-31;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000411969,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000234208,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,.,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21387;gnomADv4_1_AC_joint_XX=10958;gnomADv4_1_AC_joint_XY=10429;gnomADv4_1_AF_grpmax_joint=0.415248;gnomADv4_1_AF_joint=0.140528;gnomADv4_1_AF_joint_XX=0.140877;gnomADv4_1_AF_joint_XY=0.140163;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152190;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1962;gnomADv4_1_nhomalt_joint_XX=997;gnomADv4_1_nhomalt_joint_XY=965;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29540531 chr22_29540531_G_T G T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.47;CADD_Rawscore=-0.208753;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*83-1055C>A|||||||rs9613943||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.453-1055C>A|||||||rs9613943||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.453-1055C>A|||||||rs9613943||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.453-1055C>A|||||||rs9613943||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29540531G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs9613943|2423|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29540531G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs9613943|2972|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.453-1055C>A|||||||rs9613943||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.453-1055C>A|||||||rs9613943||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.453-1055C>A|||||||rs9613943||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.31-1055C>A|||||||rs9613943||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.390-1055C>A|||||||rs9613943||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.450-1055C>A|||||||rs9613943||-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29540531G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs9613943|3793|-1||HGNC|HGNC:19074|5||||||||Ensembl||G|G||||chr22:g.29540531G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs9613943|3793|-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.453-1055C>A|||||||rs9613943||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29540531G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs9613943|1062|-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.453-1055C>A|||||||rs9613943||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.453-1055C>A|||||||rs9613943||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.453-1055C>A|||||||rs9613943||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.453-1055C>A|||||||rs9613943||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.453-1055C>A|||||||rs9613943||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.453-1055C>A|||||||rs9613943||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.453-1055C>A|||||||rs9613943||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.453-1055C>A|||||||rs9613943||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.453-1055C>A|||||||rs9613943||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29540531G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.453-1055C>A|||||||rs9613943||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29540531G>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-34|47|-4|-46;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37505;gnomADv4_1_AC_joint_XX=19575;gnomADv4_1_AC_joint_XY=17930;gnomADv4_1_AF_grpmax_joint=0.316473;gnomADv4_1_AF_joint=0.246776;gnomADv4_1_AF_joint_XX=0.251833;gnomADv4_1_AF_joint_XY=0.241481;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151980;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4708;gnomADv4_1_nhomalt_joint_XX=2474;gnomADv4_1_nhomalt_joint_XY=2234;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29540843 chr22_29540843_C_A C A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.331;CADD_Rawscore=-0.297249;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*83-1367G>T|||||||rs56166672||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.453-1367G>T|||||||rs56166672||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.453-1367G>T|||||||rs56166672||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.453-1367G>T|||||||rs56166672||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29540843C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs56166672|2111|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||C|C||||chr22:g.29540843C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs56166672|2660|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.453-1367G>T|||||||rs56166672||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.453-1367G>T|||||||rs56166672||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.453-1367G>T|||||||rs56166672||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.31-1367G>T|||||||rs56166672||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.390-1367G>T|||||||rs56166672||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.450-1367G>T|||||||rs56166672||-1||HGNC|HGNC:19074|1||||||||Ensembl||C|C||||chr22:g.29540843C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs56166672|4105|-1||HGNC|HGNC:19074|5||||||||Ensembl||C|C||||chr22:g.29540843C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs56166672|4105|-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.453-1367G>T|||||||rs56166672||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29540843C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs56166672|1374|-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.453-1367G>T|||||||rs56166672||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.453-1367G>T|||||||rs56166672||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.453-1367G>T|||||||rs56166672||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.453-1367G>T|||||||rs56166672||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.453-1367G>T|||||||rs56166672||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.453-1367G>T|||||||rs56166672||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.453-1367G>T|||||||rs56166672||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.453-1367G>T|||||||rs56166672||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.453-1367G>T|||||||rs56166672||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29540843C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.453-1367G>T|||||||rs56166672||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29540843C>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|15|0|16|0;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27089;gnomADv4_1_AC_joint_XX=13892;gnomADv4_1_AC_joint_XY=13197;gnomADv4_1_AF_grpmax_joint=0.427606;gnomADv4_1_AF_joint=0.178034;gnomADv4_1_AF_joint_XX=0.178657;gnomADv4_1_AF_joint_XY=0.177384;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2689;gnomADv4_1_nhomalt_joint_XX=1379;gnomADv4_1_nhomalt_joint_XY=1310;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29540993 chr22_29540993_C_G C G 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.978;CADD_Rawscore=-0.023646;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*83-1517G>C|||||||rs737979||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.453-1517G>C|||||||rs737979||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.453-1517G>C|||||||rs737979||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.453-1517G>C|||||||rs737979||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29540993C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs737979|1961|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||C|C||||chr22:g.29540993C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs737979|2510|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.453-1517G>C|||||||rs737979||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.453-1517G>C|||||||rs737979||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.453-1517G>C|||||||rs737979||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.31-1517G>C|||||||rs737979||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.390-1517G>C|||||||rs737979||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.450-1517G>C|||||||rs737979||-1||HGNC|HGNC:19074|1||||||||Ensembl||C|C||||chr22:g.29540993C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs737979|4255|-1||HGNC|HGNC:19074|5||||||||Ensembl||C|C||||chr22:g.29540993C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs737979|4255|-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.453-1517G>C|||||||rs737979||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29540993C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs737979|1524|-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.453-1517G>C|||||||rs737979||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.453-1517G>C|||||||rs737979||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.453-1517G>C|||||||rs737979||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.453-1517G>C|||||||rs737979||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.453-1517G>C|||||||rs737979||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.453-1517G>C|||||||rs737979||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.453-1517G>C|||||||rs737979||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.453-1517G>C|||||||rs737979||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.453-1517G>C|||||||rs737979||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29540993C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.453-1517G>C|||||||rs737979||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29540993C>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|50|-23|-36|50;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=135861;gnomADv4_1_AC_joint_XX=69612;gnomADv4_1_AC_joint_XY=66249;gnomADv4_1_AF_grpmax_joint=0.970486;gnomADv4_1_AF_joint=0.892929;gnomADv4_1_AF_joint_XX=0.894894;gnomADv4_1_AF_joint_XY=0.890875;gnomADv4_1_AN_grpmax_joint=41540;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=60903;gnomADv4_1_nhomalt_joint_XX=31281;gnomADv4_1_nhomalt_joint_XY=29622;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29541250 chr22_29541250_C_A C A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=2.235;CADD_Rawscore=0.193498;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*82+1609G>T|||||||rs737980||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.452+1609G>T|||||||rs737980||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.452+1609G>T|||||||rs737980||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.452+1609G>T|||||||rs737980||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29541250C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs737980|1704|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||C|C||||chr22:g.29541250C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs737980|2253|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.452+1609G>T|||||||rs737980||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.452+1609G>T|||||||rs737980||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.452+1609G>T|||||||rs737980||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.30+1609G>T|||||||rs737980||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.389+1609G>T|||||||rs737980||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.449+1609G>T|||||||rs737980||-1||HGNC|HGNC:19074|1||||||||Ensembl||C|C||||chr22:g.29541250C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs737980|4512|-1||HGNC|HGNC:19074|5||||||||Ensembl||C|C||||chr22:g.29541250C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs737980|4512|-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.452+1609G>T|||||||rs737980||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29541250C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs737980|1781|-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.452+1609G>T|||||||rs737980||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.452+1609G>T|||||||rs737980||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.452+1609G>T|||||||rs737980||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.452+1609G>T|||||||rs737980||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.452+1609G>T|||||||rs737980||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.452+1609G>T|||||||rs737980||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.452+1609G>T|||||||rs737980||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.452+1609G>T|||||||rs737980||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.452+1609G>T|||||||rs737980||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29541250C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.452+1609G>T|||||||rs737980||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29541250C>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|12|-1|12|0;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37541;gnomADv4_1_AC_joint_XX=19581;gnomADv4_1_AC_joint_XY=17960;gnomADv4_1_AF_grpmax_joint=0.317882;gnomADv4_1_AF_joint=0.247521;gnomADv4_1_AF_joint_XX=0.252385;gnomADv4_1_AF_joint_XY=0.242428;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151668;gnomADv4_1_AN_joint_XX=77584;gnomADv4_1_AN_joint_XY=74084;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4737;gnomADv4_1_nhomalt_joint_XX=2485;gnomADv4_1_nhomalt_joint_XY=2252;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29541279 chr22_29541279_G_T G T 54 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.748;CADD_Rawscore=-0.092079;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*82+1580C>A|||||||rs737981||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.452+1580C>A|||||||rs737981||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.452+1580C>A|||||||rs737981||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.452+1580C>A|||||||rs737981||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29541279G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs737981|1675|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29541279G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs737981|2224|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.452+1580C>A|||||||rs737981||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.452+1580C>A|||||||rs737981||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.452+1580C>A|||||||rs737981||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.30+1580C>A|||||||rs737981||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.389+1580C>A|||||||rs737981||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.449+1580C>A|||||||rs737981||-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29541279G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs737981|4541|-1||HGNC|HGNC:19074|5||||||||Ensembl||G|G||||chr22:g.29541279G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs737981|4541|-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.452+1580C>A|||||||rs737981||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29541279G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs737981|1810|-1||HGNC|HGNC:19074|3||||||||Ensembl||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.452+1580C>A|||||||rs737981||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.452+1580C>A|||||||rs737981||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.452+1580C>A|||||||rs737981||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.452+1580C>A|||||||rs737981||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.452+1580C>A|||||||rs737981||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.452+1580C>A|||||||rs737981||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.452+1580C>A|||||||rs737981||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.452+1580C>A|||||||rs737981||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.452+1580C>A|||||||rs737981||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29541279G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.452+1580C>A|||||||rs737981||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29541279G>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|32|-17|-17|20;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37527;gnomADv4_1_AC_joint_XX=19573;gnomADv4_1_AC_joint_XY=17954;gnomADv4_1_AF_grpmax_joint=0.317054;gnomADv4_1_AF_joint=0.247171;gnomADv4_1_AF_joint_XX=0.252138;gnomADv4_1_AF_joint_XY=0.241974;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151826;gnomADv4_1_AN_joint_XX=77628;gnomADv4_1_AN_joint_XY=74198;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4729;gnomADv4_1_nhomalt_joint_XX=2480;gnomADv4_1_nhomalt_joint_XY=2249;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29541446 chr22_29541446_T_G T G 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=2.143;CADD_Rawscore=0.182333;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*82+1413A>C|||||||rs2881994||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.452+1413A>C|||||||rs2881994||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.452+1413A>C|||||||rs2881994||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.452+1413A>C|||||||rs2881994||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29541446T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs2881994|1508|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||T|T||||chr22:g.29541446T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs2881994|2057|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.452+1413A>C|||||||rs2881994||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.452+1413A>C|||||||rs2881994||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.452+1413A>C|||||||rs2881994||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.30+1413A>C|||||||rs2881994||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.389+1413A>C|||||||rs2881994||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.449+1413A>C|||||||rs2881994||-1||HGNC|HGNC:19074|1||||||||Ensembl||T|T||||chr22:g.29541446T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs2881994|4708|-1||HGNC|HGNC:19074|5||||||||Ensembl||T|T||||chr22:g.29541446T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs2881994|4708|-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.452+1413A>C|||||||rs2881994||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29541446T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs2881994|1977|-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.452+1413A>C|||||||rs2881994||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.452+1413A>C|||||||rs2881994||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.452+1413A>C|||||||rs2881994||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.452+1413A>C|||||||rs2881994||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.452+1413A>C|||||||rs2881994||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.452+1413A>C|||||||rs2881994||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.452+1413A>C|||||||rs2881994||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.452+1413A>C|||||||rs2881994||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.452+1413A>C|||||||rs2881994||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29541446T>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.452+1413A>C|||||||rs2881994||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29541446T>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|32|-2|-48|-2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36377;gnomADv4_1_AC_joint_XX=19102;gnomADv4_1_AC_joint_XY=17275;gnomADv4_1_AF_grpmax_joint=0.32543;gnomADv4_1_AF_joint=0.255823;gnomADv4_1_AF_joint_XX=0.258968;gnomADv4_1_AF_joint_XY=0.252433;gnomADv4_1_AN_grpmax_joint=4766;gnomADv4_1_AN_joint=142196;gnomADv4_1_AN_joint_XX=73762;gnomADv4_1_AN_joint_XY=68434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4572;gnomADv4_1_nhomalt_joint_XX=2415;gnomADv4_1_nhomalt_joint_XY=2157;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29541506 chr22_29541506_C_CA;chr22_29541506_CA_C C CA 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=23;CADDIndel_PHREDscore=0.294;CADDIndel_Rawscore=-0.327245;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*82+1352dup|||||||rs34069596||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.452+1352dup|||||||rs34069596||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.452+1352dup|||||||rs34069596||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.452+1352dup|||||||rs34069596||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29541525dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs34069596|1447|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl|||||||chr22:g.29541525dup|||||||||||||,A|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs34069596|1996|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.452+1352dup|||||||rs34069596||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.452+1352dup|||||||rs34069596||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.452+1352dup|||||||rs34069596||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.30+1352dup|||||||rs34069596||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.389+1352dup|||||||rs34069596||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.449+1352dup|||||||rs34069596||-1||HGNC|HGNC:19074|1||||||||Ensembl|||||||chr22:g.29541525dup|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs34069596|4768|-1||HGNC|HGNC:19074|5||||||||Ensembl|||||||chr22:g.29541525dup|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs34069596|4768|-1||HGNC|HGNC:19074|3||||||||Ensembl|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.452+1352dup|||||||rs34069596||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29541525dup|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs34069596|2037|-1||HGNC|HGNC:19074|3||||||||Ensembl|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.452+1352dup|||||||rs34069596||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.452+1352dup|||||||rs34069596||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||||OK|||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.452+1352dup|||||||rs34069596||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||||OK|||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.452+1352dup|||||||rs34069596||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.452+1352dup|||||||rs34069596||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.452+1352dup|||||||rs34069596||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.452+1352dup|||||||rs34069596||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.452+1352dup|||||||rs34069596||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.452+1352dup|||||||rs34069596||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq|||||||chr22:g.29541525dup|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.452+1352dup|||||||rs34069596||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq|||||||chr22:g.29541525dup|||||||||||||;SpliceAI=CA|THOC5|0.00|0.00|0.00|0.00|-7|-28|-7|-3;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19800;gnomADv4_1_AC_joint_XX=10869;gnomADv4_1_AC_joint_XY=8931;gnomADv4_1_AF_grpmax_joint=0.414286;gnomADv4_1_AF_joint=0.222677;gnomADv4_1_AF_joint_XX=0.223946;gnomADv4_1_AF_joint_XY=0.221152;gnomADv4_1_AN_grpmax_joint=3500;gnomADv4_1_AN_joint=88918;gnomADv4_1_AN_joint_XX=48534;gnomADv4_1_AN_joint_XY=40384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2089;gnomADv4_1_nhomalt_joint_XX=1135;gnomADv4_1_nhomalt_joint_XY=954;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29541506 chr22_29541506_C_CA;chr22_29541506_CA_C CA C 23 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=17;CADDIndel_PHREDscore=0.237;CADDIndel_Rawscore=-0.382991;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*82+1352del|||||||rs34069596||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.452+1352del|||||||rs34069596||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.452+1352del|||||||rs34069596||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.452+1352del|||||||rs34069596||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29541525del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs34069596|1447|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||A|A||||chr22:g.29541525del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs34069596|1996|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.452+1352del|||||||rs34069596||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.452+1352del|||||||rs34069596||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.452+1352del|||||||rs34069596||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.30+1352del|||||||rs34069596||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.389+1352del|||||||rs34069596||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.449+1352del|||||||rs34069596||-1||HGNC|HGNC:19074|1||||||||Ensembl||A|A||||chr22:g.29541525del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs34069596|4769|-1||HGNC|HGNC:19074|5||||||||Ensembl||A|A||||chr22:g.29541525del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs34069596|4769|-1||HGNC|HGNC:19074|3||||||||Ensembl||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.452+1352del|||||||rs34069596||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29541525del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs34069596|2038|-1||HGNC|HGNC:19074|3||||||||Ensembl||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.452+1352del|||||||rs34069596||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.452+1352del|||||||rs34069596||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.452+1352del|||||||rs34069596||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.452+1352del|||||||rs34069596||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.452+1352del|||||||rs34069596||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.452+1352del|||||||rs34069596||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.452+1352del|||||||rs34069596||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.452+1352del|||||||rs34069596||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.452+1352del|||||||rs34069596||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29541525del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.452+1352del|||||||rs34069596||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29541525del|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|-3|-7|-7|1;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24165;gnomADv4_1_AC_joint_XX=13328;gnomADv4_1_AC_joint_XY=10837;gnomADv4_1_AF_grpmax_joint=0.319325;gnomADv4_1_AF_joint=0.271871;gnomADv4_1_AF_joint_XX=0.274793;gnomADv4_1_AF_joint_XY=0.268362;gnomADv4_1_AN_grpmax_joint=3498;gnomADv4_1_AN_joint=88884;gnomADv4_1_AN_joint_XX=48502;gnomADv4_1_AN_joint_XY=40382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1478;gnomADv4_1_nhomalt_joint_XX=801;gnomADv4_1_nhomalt_joint_XY=677;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29541619 chr22_29541619_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.338;CADD_Rawscore=-0.291729;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*82+1240A>G|||||||rs2348672||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.452+1240A>G|||||||rs2348672||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.452+1240A>G|||||||rs2348672||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.452+1240A>G|||||||rs2348672||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29541619T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs2348672|1335|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||T|T||||chr22:g.29541619T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs2348672|1884|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.452+1240A>G|||||||rs2348672||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.452+1240A>G|||||||rs2348672||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.452+1240A>G|||||||rs2348672||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.30+1240A>G|||||||rs2348672||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.389+1240A>G|||||||rs2348672||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.449+1240A>G|||||||rs2348672||-1||HGNC|HGNC:19074|1||||||||Ensembl||T|T||||chr22:g.29541619T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000484924|retained_intron||||||||||rs2348672|4881|-1||HGNC|HGNC:19074|5||||||||Ensembl||T|T||||chr22:g.29541619T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000488052|retained_intron||||||||||rs2348672|4881|-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.452+1240A>G|||||||rs2348672||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29541619T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs2348672|2150|-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.452+1240A>G|||||||rs2348672||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.452+1240A>G|||||||rs2348672||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.452+1240A>G|||||||rs2348672||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.452+1240A>G|||||||rs2348672||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.452+1240A>G|||||||rs2348672||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.452+1240A>G|||||||rs2348672||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.452+1240A>G|||||||rs2348672||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.452+1240A>G|||||||rs2348672||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.452+1240A>G|||||||rs2348672||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29541619T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.452+1240A>G|||||||rs2348672||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29541619T>C|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.07|0.00|6|-2|-36|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000484924,ENST00000488052,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37194;gnomADv4_1_AC_joint_XX=19431;gnomADv4_1_AC_joint_XY=17763;gnomADv4_1_AF_grpmax_joint=0.316576;gnomADv4_1_AF_joint=0.246933;gnomADv4_1_AF_joint_XX=0.252069;gnomADv4_1_AF_joint_XY=0.241549;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=150624;gnomADv4_1_AN_joint_XX=77086;gnomADv4_1_AN_joint_XY=73538;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4667;gnomADv4_1_nhomalt_joint_XX=2451;gnomADv4_1_nhomalt_joint_XY=2216;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29541859 chr22_29541859_TC_T TC T 26 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=26;CADDIndel_PHREDscore=0.336;CADDIndel_Rawscore=-0.293179;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*82+999del|||||||rs371246911||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.452+999del|||||||rs371246911||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.452+999del|||||||rs371246911||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.452+999del|||||||rs371246911||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29541861del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs371246911|1094|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||C|C||||chr22:g.29541861del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs371246911|1643|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.452+999del|||||||rs371246911||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.452+999del|||||||rs371246911||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.452+999del|||||||rs371246911||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.30+999del|||||||rs371246911||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.389+999del|||||||rs371246911||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.449+999del|||||||rs371246911||-1||HGNC|HGNC:19074|1||||||||Ensembl||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.452+999del|||||||rs371246911||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29541861del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs371246911|2391|-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.452+999del|||||||rs371246911||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.452+999del|||||||rs371246911||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.452+999del|||||||rs371246911||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.452+999del|||||||rs371246911||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.452+999del|||||||rs371246911||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.452+999del|||||||rs371246911||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.452+999del|||||||rs371246911||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.452+999del|||||||rs371246911||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.452+999del|||||||rs371246911||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29541861del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.452+999del|||||||rs371246911||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29541861del|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-26|-2|-26|1;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26920;gnomADv4_1_AC_joint_XX=14718;gnomADv4_1_AC_joint_XY=12202;gnomADv4_1_AF_grpmax_joint=0.899837;gnomADv4_1_AF_joint=0.792371;gnomADv4_1_AF_joint_XX=0.784291;gnomADv4_1_AF_joint_XY=0.802341;gnomADv4_1_AN_grpmax_joint=2456;gnomADv4_1_AN_joint=33974;gnomADv4_1_AN_joint_XX=18766;gnomADv4_1_AN_joint_XY=15208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10750;gnomADv4_1_nhomalt_joint_XX=5795;gnomADv4_1_nhomalt_joint_XY=4955;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29541874 chr22_29541874_A_T A T 16 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=16;CADD_PHREDscore=0.784;CADD_Rawscore=-0.080152;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*82+985T>A|||||||rs371915878||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.452+985T>A|||||||rs371915878||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.452+985T>A|||||||rs371915878||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.452+985T>A|||||||rs371915878||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29541874A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs371915878|1080|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||A|A||||chr22:g.29541874A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs371915878|1629|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.452+985T>A|||||||rs371915878||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.452+985T>A|||||||rs371915878||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.452+985T>A|||||||rs371915878||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.30+985T>A|||||||rs371915878||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.389+985T>A|||||||rs371915878||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.449+985T>A|||||||rs371915878||-1||HGNC|HGNC:19074|1||||||||Ensembl||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.452+985T>A|||||||rs371915878||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29541874A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs371915878|2405|-1||HGNC|HGNC:19074|3||||||||Ensembl||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.452+985T>A|||||||rs371915878||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.452+985T>A|||||||rs371915878||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.452+985T>A|||||||rs371915878||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.452+985T>A|||||||rs371915878||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.452+985T>A|||||||rs371915878||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.452+985T>A|||||||rs371915878||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.452+985T>A|||||||rs371915878||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.452+985T>A|||||||rs371915878||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.452+985T>A|||||||rs371915878||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29541874A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.452+985T>A|||||||rs371915878||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29541874A>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-2|-17|50|-17;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20946;gnomADv4_1_AC_joint_XX=11251;gnomADv4_1_AC_joint_XY=9695;gnomADv4_1_AF_grpmax_joint=0.502927;gnomADv4_1_AF_joint=0.224372;gnomADv4_1_AF_joint_XX=0.220824;gnomADv4_1_AF_joint_XY=0.228634;gnomADv4_1_AN_grpmax_joint=3758;gnomADv4_1_AN_joint=93354;gnomADv4_1_AN_joint_XX=50950;gnomADv4_1_AN_joint_XY=42404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2718;gnomADv4_1_nhomalt_joint_XX=1371;gnomADv4_1_nhomalt_joint_XY=1347;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29541878 chr22_29541878_A_T A T 20 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=20;CADD_PHREDscore=0.57;CADD_Rawscore=-0.160375;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*82+981T>A|||||||rs375674549||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.452+981T>A|||||||rs375674549||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.452+981T>A|||||||rs375674549||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.452+981T>A|||||||rs375674549||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29541878A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs375674549|1076|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||A|A||||chr22:g.29541878A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs375674549|1625|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.452+981T>A|||||||rs375674549||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.452+981T>A|||||||rs375674549||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.452+981T>A|||||||rs375674549||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.30+981T>A|||||||rs375674549||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.389+981T>A|||||||rs375674549||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.449+981T>A|||||||rs375674549||-1||HGNC|HGNC:19074|1||||||||Ensembl||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.452+981T>A|||||||rs375674549||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29541878A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs375674549|2409|-1||HGNC|HGNC:19074|3||||||||Ensembl||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.452+981T>A|||||||rs375674549||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.452+981T>A|||||||rs375674549||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.452+981T>A|||||||rs375674549||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.452+981T>A|||||||rs375674549||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.452+981T>A|||||||rs375674549||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.452+981T>A|||||||rs375674549||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.452+981T>A|||||||rs375674549||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.452+981T>A|||||||rs375674549||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.452+981T>A|||||||rs375674549||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29541878A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.452+981T>A|||||||rs375674549||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29541878A>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-27|-21|3|5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21100;gnomADv4_1_AC_joint_XX=11312;gnomADv4_1_AC_joint_XY=9788;gnomADv4_1_AF_grpmax_joint=0.495844;gnomADv4_1_AF_joint=0.218002;gnomADv4_1_AF_joint_XX=0.214804;gnomADv4_1_AF_joint_XY=0.221819;gnomADv4_1_AN_grpmax_joint=3850;gnomADv4_1_AN_joint=96788;gnomADv4_1_AN_joint_XX=52662;gnomADv4_1_AN_joint_XY=44126;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2692;gnomADv4_1_nhomalt_joint_XX=1358;gnomADv4_1_nhomalt_joint_XY=1334;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29541885 chr22_29541885_A_T A T 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=14;CADD_PHREDscore=3.035;CADD_Rawscore=0.27781;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*82+974T>A|||||||rs369339480||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.452+974T>A|||||||rs369339480||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.452+974T>A|||||||rs369339480||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.452+974T>A|||||||rs369339480||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29541885A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs369339480|1069|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||A|A||||chr22:g.29541885A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs369339480|1618|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.452+974T>A|||||||rs369339480||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.452+974T>A|||||||rs369339480||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.452+974T>A|||||||rs369339480||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.30+974T>A|||||||rs369339480||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.389+974T>A|||||||rs369339480||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.449+974T>A|||||||rs369339480||-1||HGNC|HGNC:19074|1||||||||Ensembl||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.452+974T>A|||||||rs369339480||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29541885A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs369339480|2416|-1||HGNC|HGNC:19074|3||||||||Ensembl||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.452+974T>A|||||||rs369339480||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.452+974T>A|||||||rs369339480||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.452+974T>A|||||||rs369339480||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.452+974T>A|||||||rs369339480||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.452+974T>A|||||||rs369339480||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.452+974T>A|||||||rs369339480||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.452+974T>A|||||||rs369339480||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.452+974T>A|||||||rs369339480||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.452+974T>A|||||||rs369339480||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29541885A>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.452+974T>A|||||||rs369339480||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29541885A>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-28|-6|46|-2;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21193;gnomADv4_1_AC_joint_XX=11356;gnomADv4_1_AC_joint_XY=9837;gnomADv4_1_AF_grpmax_joint=0.486507;gnomADv4_1_AF_joint=0.217021;gnomADv4_1_AF_joint_XX=0.214677;gnomADv4_1_AF_joint_XY=0.219792;gnomADv4_1_AN_grpmax_joint=3928;gnomADv4_1_AN_joint=97654;gnomADv4_1_AN_joint_XX=52898;gnomADv4_1_AN_joint_XY=44756;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2615;gnomADv4_1_nhomalt_joint_XX=1338;gnomADv4_1_nhomalt_joint_XY=1277;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29541893 chr22_29541893_AATATATATATAT_A AATATATATATAT A 24 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=24;CADDIndel_PHREDscore=0.473;CADDIndel_Rawscore=-0.206965;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*82+954_*82+965del|||||||rs55924406||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.452+954_452+965del|||||||rs55924406||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.452+954_452+965del|||||||rs55924406||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.452+954_452+965del|||||||rs55924406||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs55924406|1049|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs55924406|1598|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.452+954_452+965del|||||||rs55924406||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.452+954_452+965del|||||||rs55924406||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.452+954_452+965del|||||||rs55924406||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.30+954_30+965del|||||||rs55924406||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.389+954_389+965del|||||||rs55924406||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.449+954_449+965del|||||||rs55924406||-1||HGNC|HGNC:19074|1||||||||Ensembl||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.452+954_452+965del|||||||rs55924406||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs55924406|2425|-1||HGNC|HGNC:19074|3||||||||Ensembl||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.452+954_452+965del|||||||rs55924406||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.452+954_452+965del|||||||rs55924406||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||ATATATATATAT|ATATATATATAT|OK|||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.452+954_452+965del|||||||rs55924406||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||ATATATATATAT|ATATATATATAT|OK|||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.452+954_452+965del|||||||rs55924406||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.452+954_452+965del|||||||rs55924406||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.452+954_452+965del|||||||rs55924406||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.452+954_452+965del|||||||rs55924406||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.452+954_452+965del|||||||rs55924406||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.452+954_452+965del|||||||rs55924406||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.452+954_452+965del|||||||rs55924406||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||ATATATATATAT|ATATATATATAT||||chr22:g.29541912_29541923del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20515;gnomADv4_1_AC_joint_XX=10984;gnomADv4_1_AC_joint_XY=9531;gnomADv4_1_AF_grpmax_joint=0.489335;gnomADv4_1_AF_joint=0.272538;gnomADv4_1_AF_joint_XX=0.263254;gnomADv4_1_AF_joint_XY=0.284083;gnomADv4_1_AN_grpmax_joint=3188;gnomADv4_1_AN_joint=75274;gnomADv4_1_AN_joint_XX=41724;gnomADv4_1_AN_joint_XY=33550;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3009;gnomADv4_1_nhomalt_joint_XX=1491;gnomADv4_1_nhomalt_joint_XY=1518;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29542688 chr22_29542688_C_T C T 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.675;CADD_Rawscore=0.117168;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||4/18|ENST00000358079.8:c.*82+171G>A|||||||rs2240637||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||5/19|ENST00000397871.5:c.452+171G>A|||||||rs2240637||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||6/20|ENST00000397872.5:c.452+171G>A|||||||rs2240637||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||6/20|ENST00000397873.6:c.452+171G>A|||||||rs2240637||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29542688C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs2240637|266|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||C|C||||chr22:g.29542688C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs2240637|815|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||5/5|ENST00000428374.5:c.452+171G>A|||||||rs2240637||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||6/7|ENST00000440771.5:c.452+171G>A|||||||rs2240637||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||6/22|ENST00000442555.5:c.452+171G>A|||||||rs2240637||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||1/8|ENST00000443089.5:c.30+171G>A|||||||rs2240637||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||4/4|ENST00000455450.5:c.389+171G>A|||||||rs2240637||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||4/6|ENST00000475187.5:n.449+171G>A|||||||rs2240637||-1||HGNC|HGNC:19074|1||||||||Ensembl||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||5/19|ENST00000490103.6:c.452+171G>A|||||||rs2240637||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29542688C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs2240637|3219|-1||HGNC|HGNC:19074|3||||||||Ensembl||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||6/20|NM_001002877.2:c.452+171G>A|||||||rs2240637||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||6/20|NM_001002878.1:c.452+171G>A|||||||rs2240637||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||5/19|NM_001002879.1:c.452+171G>A|||||||rs2240637||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||5/19|NM_003678.5:c.452+171G>A|||||||rs2240637||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||5/20|XM_005261797.2:c.452+171G>A|||||||rs2240637||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||6/21|XM_005261798.2:c.452+171G>A|||||||rs2240637||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||5/20|XM_005261799.2:c.452+171G>A|||||||rs2240637||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||6/21|XM_006724347.2:c.452+171G>A|||||||rs2240637||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||6/21|XM_047441558.1:c.452+171G>A|||||||rs2240637||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29542688C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||6/20|XM_047441559.1:c.452+171G>A|||||||rs2240637||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29542688C>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-2|48|-1|-47;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30075;gnomADv4_1_AC_joint_XX=15481;gnomADv4_1_AC_joint_XY=14594;gnomADv4_1_AF_grpmax_joint=0.426322;gnomADv4_1_AF_joint=0.198311;gnomADv4_1_AF_joint_XX=0.199559;gnomADv4_1_AF_joint_XY=0.197003;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=151656;gnomADv4_1_AN_joint_XX=77576;gnomADv4_1_AN_joint_XY=74080;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3270;gnomADv4_1_nhomalt_joint_XX=1682;gnomADv4_1_nhomalt_joint_XY=1588;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29543694 chr22_29543694_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.677;CADD_Rawscore=0.117448;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||2/18|ENST00000358079.8:c.241-152A>G|||||||rs5763315||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||3/19|ENST00000397871.5:c.241-152A>G|||||||rs5763315||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||4/20|ENST00000397872.5:c.241-152A>G|||||||rs5763315||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||4/20|ENST00000397873.6:c.241-152A>G|||||||rs5763315||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||5/6|ENST00000414902.5:c.*38-152A>G|||||||rs5763315||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||5/5|ENST00000418021.1:c.241-152A>G|||||||rs5763315||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||3/5|ENST00000428374.5:c.241-152A>G|||||||rs5763315||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||4/7|ENST00000440771.5:c.241-152A>G|||||||rs5763315||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||4/22|ENST00000442555.5:c.241-152A>G|||||||rs5763315||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29543694T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs5763315|806|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||2/4|ENST00000455450.5:c.178-152A>G|||||||rs5763315||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||2/6|ENST00000475187.5:n.238-152A>G|||||||rs5763315||-1||HGNC|HGNC:19074|1||||||||Ensembl||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||3/19|ENST00000490103.6:c.241-152A>G|||||||rs5763315||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29543694T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000492707|retained_intron||||||||||rs5763315|4225|-1||HGNC|HGNC:19074|3||||||||Ensembl||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||4/20|NM_001002877.2:c.241-152A>G|||||||rs5763315||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||4/20|NM_001002878.1:c.241-152A>G|||||||rs5763315||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||3/19|NM_001002879.1:c.241-152A>G|||||||rs5763315||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||3/19|NM_003678.5:c.241-152A>G|||||||rs5763315||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||3/20|XM_005261797.2:c.241-152A>G|||||||rs5763315||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||4/21|XM_005261798.2:c.241-152A>G|||||||rs5763315||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||3/20|XM_005261799.2:c.241-152A>G|||||||rs5763315||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||4/21|XM_006724347.2:c.241-152A>G|||||||rs5763315||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||4/21|XM_047441558.1:c.241-152A>G|||||||rs5763315||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29543694T>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||4/20|XM_047441559.1:c.241-152A>G|||||||rs5763315||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29543694T>C|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|27|-40|-48|-31;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,ENST00000492707,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=437896;gnomADv4_1_AC_joint_XX=212534;gnomADv4_1_AC_joint_XY=225362;gnomADv4_1_AF_grpmax_joint=0.967426;gnomADv4_1_AF_joint=0.854025;gnomADv4_1_AF_joint_XX=0.854614;gnomADv4_1_AF_joint_XY=0.853469;gnomADv4_1_AN_grpmax_joint=32818;gnomADv4_1_AN_joint=512744;gnomADv4_1_AN_joint_XX=248690;gnomADv4_1_AN_joint_XY=264054;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=187626;gnomADv4_1_nhomalt_joint_XX=91072;gnomADv4_1_nhomalt_joint_XY=96554;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29544960 chr22_29544960_G_A G A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=5.451;CADD_Rawscore=0.498808;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||1/18|ENST00000358079.8:c.97-357C>T|||||||rs467812||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||2/19|ENST00000397871.5:c.97-357C>T|||||||rs467812||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||3/20|ENST00000397872.5:c.97-357C>T|||||||rs467812||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||3/20|ENST00000397873.6:c.97-357C>T|||||||rs467812||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||3/6|ENST00000414902.5:c.97-357C>T|||||||rs467812||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||4/5|ENST00000418021.1:c.97-357C>T|||||||rs467812||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||2/5|ENST00000428374.5:c.97-357C>T|||||||rs467812||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||3/7|ENST00000440771.5:c.97-357C>T|||||||rs467812||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||3/22|ENST00000442555.5:c.97-357C>T|||||||rs467812||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29544960G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs467812|2072|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||1/4|ENST00000455450.5:c.33+101C>T|||||||rs467812||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||1/6|ENST00000475187.5:n.94-357C>T|||||||rs467812||-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||2/19|ENST00000490103.6:c.97-357C>T|||||||rs467812||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||3/20|NM_001002877.2:c.97-357C>T|||||||rs467812||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||3/20|NM_001002878.1:c.97-357C>T|||||||rs467812||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||2/19|NM_001002879.1:c.97-357C>T|||||||rs467812||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||2/19|NM_003678.5:c.97-357C>T|||||||rs467812||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||2/20|XM_005261797.2:c.97-357C>T|||||||rs467812||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||3/21|XM_005261798.2:c.97-357C>T|||||||rs467812||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||2/20|XM_005261799.2:c.97-357C>T|||||||rs467812||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||3/21|XM_006724347.2:c.97-357C>T|||||||rs467812||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||3/21|XM_047441558.1:c.97-357C>T|||||||rs467812||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29544960G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||3/20|XM_047441559.1:c.97-357C>T|||||||rs467812||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29544960G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|48|44|2|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=177527;gnomADv4_1_AC_joint_XX=81020;gnomADv4_1_AC_joint_XY=96507;gnomADv4_1_AF_grpmax_joint=0.696014;gnomADv4_1_AF_joint=0.534868;gnomADv4_1_AF_joint_XX=0.519872;gnomADv4_1_AF_joint_XY=0.548142;gnomADv4_1_AN_grpmax_joint=42900;gnomADv4_1_AN_joint=331908;gnomADv4_1_AN_joint_XX=155846;gnomADv4_1_AN_joint_XY=176062;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=48724;gnomADv4_1_nhomalt_joint_XX=21402;gnomADv4_1_nhomalt_joint_XY=27322;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29545039 chr22_29545039_A_G A G 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=6.512;CADD_Rawscore=0.605967;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||1/18|ENST00000358079.8:c.97-436T>C|||||||rs467902||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||2/19|ENST00000397871.5:c.97-436T>C|||||||rs467902||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||3/20|ENST00000397872.5:c.97-436T>C|||||||rs467902||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||3/20|ENST00000397873.6:c.97-436T>C|||||||rs467902||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||3/6|ENST00000414902.5:c.97-436T>C|||||||rs467902||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||4/5|ENST00000418021.1:c.97-436T>C|||||||rs467902||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||2/5|ENST00000428374.5:c.97-436T>C|||||||rs467902||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||3/7|ENST00000440771.5:c.97-436T>C|||||||rs467902||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||3/22|ENST00000442555.5:c.97-436T>C|||||||rs467902||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29545039A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs467902|2151|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||1/4|ENST00000455450.5:c.33+22T>C|||||||rs467902||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||1/6|ENST00000475187.5:n.94-436T>C|||||||rs467902||-1||HGNC|HGNC:19074|1||||||||Ensembl||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||2/19|ENST00000490103.6:c.97-436T>C|||||||rs467902||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||3/20|NM_001002877.2:c.97-436T>C|||||||rs467902||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||3/20|NM_001002878.1:c.97-436T>C|||||||rs467902||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||2/19|NM_001002879.1:c.97-436T>C|||||||rs467902||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||2/19|NM_003678.5:c.97-436T>C|||||||rs467902||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||2/20|XM_005261797.2:c.97-436T>C|||||||rs467902||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||3/21|XM_005261798.2:c.97-436T>C|||||||rs467902||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||2/20|XM_005261799.2:c.97-436T>C|||||||rs467902||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||3/21|XM_006724347.2:c.97-436T>C|||||||rs467902||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||3/21|XM_047441558.1:c.97-436T>C|||||||rs467902||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29545039A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||3/20|XM_047441559.1:c.97-436T>C|||||||rs467902||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29545039A>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|-35|-11|-16|22;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=335674;gnomADv4_1_AC_joint_XX=152541;gnomADv4_1_AC_joint_XY=183133;gnomADv4_1_AF_grpmax_joint=0.878687;gnomADv4_1_AF_joint=0.78866;gnomADv4_1_AF_joint_XX=0.787747;gnomADv4_1_AF_joint_XY=0.789421;gnomADv4_1_AN_grpmax_joint=47876;gnomADv4_1_AN_joint=425626;gnomADv4_1_AN_joint_XX=193642;gnomADv4_1_AN_joint_XY=231984;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=133247;gnomADv4_1_nhomalt_joint_XX=60436;gnomADv4_1_nhomalt_joint_XY=72811;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29545948 chr22_29545948_G_A G A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.906;CADD_Rawscore=-0.043197;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||1/18|ENST00000358079.8:c.97-1345C>T|||||||rs467510||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||2/19|ENST00000397871.5:c.97-1345C>T|||||||rs467510||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||3/20|ENST00000397872.5:c.97-1345C>T|||||||rs467510||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||3/20|ENST00000397873.6:c.97-1345C>T|||||||rs467510||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||3/6|ENST00000414902.5:c.97-1345C>T|||||||rs467510||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||4/5|ENST00000418021.1:c.97-1345C>T|||||||rs467510||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||2/5|ENST00000428374.5:c.97-1345C>T|||||||rs467510||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||3/7|ENST00000440771.5:c.97-1345C>T|||||||rs467510||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||3/22|ENST00000442555.5:c.97-1345C>T|||||||rs467510||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29545948G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs467510|3060|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29545948G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs467510|804|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||1/6|ENST00000475187.5:n.94-1345C>T|||||||rs467510||-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||2/19|ENST00000490103.6:c.97-1345C>T|||||||rs467510||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||3/20|NM_001002877.2:c.97-1345C>T|||||||rs467510||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||3/20|NM_001002878.1:c.97-1345C>T|||||||rs467510||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29545948G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||2/19|NM_001002879.1:c.97-1345C>T|||||||rs467510||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29545948G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||2/19|NM_003678.5:c.97-1345C>T|||||||rs467510||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||2/20|XM_005261797.2:c.97-1345C>T|||||||rs467510||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||3/21|XM_005261798.2:c.97-1345C>T|||||||rs467510||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||2/20|XM_005261799.2:c.97-1345C>T|||||||rs467510||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||3/21|XM_006724347.2:c.97-1345C>T|||||||rs467510||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||3/21|XM_047441558.1:c.97-1345C>T|||||||rs467510||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29545948G>A|||1||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||3/20|XM_047441559.1:c.97-1345C>T|||||||rs467510||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29545948G>A|||1||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|-8|-39|-31|36;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=145298;gnomADv4_1_AC_joint_XX=73994;gnomADv4_1_AC_joint_XY=71304;gnomADv4_1_AF_grpmax_joint=0.999614;gnomADv4_1_AF_joint=0.953649;gnomADv4_1_AF_joint_XX=0.950322;gnomADv4_1_AF_joint_XY=0.957126;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152360;gnomADv4_1_AN_joint_XX=77862;gnomADv4_1_AN_joint_XY=74498;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=69353;gnomADv4_1_nhomalt_joint_XX=35212;gnomADv4_1_nhomalt_joint_XY=34141;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29546219 chr22_29546219_G_A G A 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.542;CADD_Rawscore=0.095351;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||1/18|ENST00000358079.8:c.97-1616C>T|||||||rs467555||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||2/19|ENST00000397871.5:c.97-1616C>T|||||||rs467555||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||3/20|ENST00000397872.5:c.97-1616C>T|||||||rs467555||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||3/20|ENST00000397873.6:c.97-1616C>T|||||||rs467555||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||3/6|ENST00000414902.5:c.97-1616C>T|||||||rs467555||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||4/5|ENST00000418021.1:c.97-1616C>T|||||||rs467555||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||2/5|ENST00000428374.5:c.97-1616C>T|||||||rs467555||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||3/7|ENST00000440771.5:c.97-1616C>T|||||||rs467555||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||3/22|ENST00000442555.5:c.97-1616C>T|||||||rs467555||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29546219G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs467555|3331|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29546219G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs467555|1075|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||1/6|ENST00000475187.5:n.94-1616C>T|||||||rs467555||-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||2/19|ENST00000490103.6:c.97-1616C>T|||||||rs467555||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||3/20|NM_001002877.2:c.97-1616C>T|||||||rs467555||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||3/20|NM_001002878.1:c.97-1616C>T|||||||rs467555||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29546219G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||2/19|NM_001002879.1:c.97-1616C>T|||||||rs467555||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29546219G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||2/19|NM_003678.5:c.97-1616C>T|||||||rs467555||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||2/20|XM_005261797.2:c.97-1616C>T|||||||rs467555||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||3/21|XM_005261798.2:c.97-1616C>T|||||||rs467555||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||2/20|XM_005261799.2:c.97-1616C>T|||||||rs467555||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||3/21|XM_006724347.2:c.97-1616C>T|||||||rs467555||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||3/21|XM_047441558.1:c.97-1616C>T|||||||rs467555||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29546219G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||3/20|XM_047441559.1:c.97-1616C>T|||||||rs467555||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29546219G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|1|41|2|41;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=121842;gnomADv4_1_AC_joint_XX=62190;gnomADv4_1_AC_joint_XY=59652;gnomADv4_1_AF_grpmax_joint=0.879362;gnomADv4_1_AF_joint=0.801645;gnomADv4_1_AF_joint_XX=0.800263;gnomADv4_1_AF_joint_XY=0.803091;gnomADv4_1_AN_grpmax_joint=41496;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=49129;gnomADv4_1_nhomalt_joint_XX=25029;gnomADv4_1_nhomalt_joint_XY=24100;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29546263 chr22_29546263_G_T G T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.66;CADD_Rawscore=-0.123732;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||1/18|ENST00000358079.8:c.97-1660C>A|||||||rs467912||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||2/19|ENST00000397871.5:c.97-1660C>A|||||||rs467912||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||3/20|ENST00000397872.5:c.97-1660C>A|||||||rs467912||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||3/20|ENST00000397873.6:c.97-1660C>A|||||||rs467912||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||3/6|ENST00000414902.5:c.97-1660C>A|||||||rs467912||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||4/5|ENST00000418021.1:c.97-1660C>A|||||||rs467912||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||2/5|ENST00000428374.5:c.97-1660C>A|||||||rs467912||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||3/7|ENST00000440771.5:c.97-1660C>A|||||||rs467912||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||3/22|ENST00000442555.5:c.97-1660C>A|||||||rs467912||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29546263G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs467912|3375|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29546263G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs467912|1119|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||1/6|ENST00000475187.5:n.94-1660C>A|||||||rs467912||-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||2/19|ENST00000490103.6:c.97-1660C>A|||||||rs467912||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||3/20|NM_001002877.2:c.97-1660C>A|||||||rs467912||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||3/20|NM_001002878.1:c.97-1660C>A|||||||rs467912||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29546263G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||2/19|NM_001002879.1:c.97-1660C>A|||||||rs467912||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29546263G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||2/19|NM_003678.5:c.97-1660C>A|||||||rs467912||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||2/20|XM_005261797.2:c.97-1660C>A|||||||rs467912||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||3/21|XM_005261798.2:c.97-1660C>A|||||||rs467912||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||2/20|XM_005261799.2:c.97-1660C>A|||||||rs467912||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||3/21|XM_006724347.2:c.97-1660C>A|||||||rs467912||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||3/21|XM_047441558.1:c.97-1660C>A|||||||rs467912||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29546263G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||3/20|XM_047441559.1:c.97-1660C>A|||||||rs467912||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29546263G>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|45|-3|-25|-3;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=121907;gnomADv4_1_AC_joint_XX=62210;gnomADv4_1_AC_joint_XY=59697;gnomADv4_1_AF_grpmax_joint=0.879379;gnomADv4_1_AF_joint=0.801883;gnomADv4_1_AF_joint_XX=0.80052;gnomADv4_1_AF_joint_XY=0.803308;gnomADv4_1_AN_grpmax_joint=41502;gnomADv4_1_AN_joint=152026;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=49175;gnomADv4_1_nhomalt_joint_XX=25045;gnomADv4_1_nhomalt_joint_XY=24130;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29546308 chr22_29546308_G_A G A 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.493;CADD_Rawscore=0.086835;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||1/18|ENST00000358079.8:c.97-1705C>T|||||||rs457295||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||2/19|ENST00000397871.5:c.97-1705C>T|||||||rs457295||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||3/20|ENST00000397872.5:c.97-1705C>T|||||||rs457295||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||3/20|ENST00000397873.6:c.97-1705C>T|||||||rs457295||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||3/6|ENST00000414902.5:c.97-1705C>T|||||||rs457295||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||4/5|ENST00000418021.1:c.97-1705C>T|||||||rs457295||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||2/5|ENST00000428374.5:c.97-1705C>T|||||||rs457295||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||3/7|ENST00000440771.5:c.97-1705C>T|||||||rs457295||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||3/22|ENST00000442555.5:c.97-1705C>T|||||||rs457295||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29546308G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs457295|3420|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29546308G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs457295|1164|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||1/6|ENST00000475187.5:n.94-1705C>T|||||||rs457295||-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||2/19|ENST00000490103.6:c.97-1705C>T|||||||rs457295||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||3/20|NM_001002877.2:c.97-1705C>T|||||||rs457295||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||3/20|NM_001002878.1:c.97-1705C>T|||||||rs457295||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29546308G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||2/19|NM_001002879.1:c.97-1705C>T|||||||rs457295||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29546308G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||2/19|NM_003678.5:c.97-1705C>T|||||||rs457295||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||2/20|XM_005261797.2:c.97-1705C>T|||||||rs457295||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||3/21|XM_005261798.2:c.97-1705C>T|||||||rs457295||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||2/20|XM_005261799.2:c.97-1705C>T|||||||rs457295||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||3/21|XM_006724347.2:c.97-1705C>T|||||||rs457295||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||3/21|XM_047441558.1:c.97-1705C>T|||||||rs457295||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29546308G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||3/20|XM_047441559.1:c.97-1705C>T|||||||rs457295||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29546308G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|0|-48|37|-48;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=121859;gnomADv4_1_AC_joint_XX=62189;gnomADv4_1_AC_joint_XY=59670;gnomADv4_1_AF_grpmax_joint=0.879226;gnomADv4_1_AF_joint=0.801704;gnomADv4_1_AF_joint_XX=0.800332;gnomADv4_1_AF_joint_XY=0.803139;gnomADv4_1_AN_grpmax_joint=41474;gnomADv4_1_AN_joint=152000;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=49144;gnomADv4_1_nhomalt_joint_XX=25030;gnomADv4_1_nhomalt_joint_XY=24114;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29546317 chr22_29546317_A_G A G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=4.408;CADD_Rawscore=0.401606;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||1/18|ENST00000358079.8:c.97-1714T>C|||||||rs459351||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||2/19|ENST00000397871.5:c.97-1714T>C|||||||rs459351||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||3/20|ENST00000397872.5:c.97-1714T>C|||||||rs459351||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||3/20|ENST00000397873.6:c.97-1714T>C|||||||rs459351||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||3/6|ENST00000414902.5:c.97-1714T>C|||||||rs459351||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||4/5|ENST00000418021.1:c.97-1714T>C|||||||rs459351||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||2/5|ENST00000428374.5:c.97-1714T>C|||||||rs459351||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||3/7|ENST00000440771.5:c.97-1714T>C|||||||rs459351||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||3/22|ENST00000442555.5:c.97-1714T>C|||||||rs459351||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29546317A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs459351|3429|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||A|A||||chr22:g.29546317A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs459351|1173|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||1/6|ENST00000475187.5:n.94-1714T>C|||||||rs459351||-1||HGNC|HGNC:19074|1||||||||Ensembl||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||2/19|ENST00000490103.6:c.97-1714T>C|||||||rs459351||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||3/20|NM_001002877.2:c.97-1714T>C|||||||rs459351||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||3/20|NM_001002878.1:c.97-1714T>C|||||||rs459351||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29546317A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||2/19|NM_001002879.1:c.97-1714T>C|||||||rs459351||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29546317A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||2/19|NM_003678.5:c.97-1714T>C|||||||rs459351||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||2/20|XM_005261797.2:c.97-1714T>C|||||||rs459351||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||3/21|XM_005261798.2:c.97-1714T>C|||||||rs459351||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||2/20|XM_005261799.2:c.97-1714T>C|||||||rs459351||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||3/21|XM_006724347.2:c.97-1714T>C|||||||rs459351||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||3/21|XM_047441558.1:c.97-1714T>C|||||||rs459351||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29546317A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||3/20|XM_047441559.1:c.97-1714T>C|||||||rs459351||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29546317A>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|-9|-28|28|45;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=121852;gnomADv4_1_AC_joint_XX=62188;gnomADv4_1_AC_joint_XY=59664;gnomADv4_1_AF_grpmax_joint=0.87905;gnomADv4_1_AF_joint=0.801626;gnomADv4_1_AF_joint_XX=0.800278;gnomADv4_1_AF_joint_XY=0.803036;gnomADv4_1_AN_grpmax_joint=41480;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=49137;gnomADv4_1_nhomalt_joint_XX=25028;gnomADv4_1_nhomalt_joint_XY=24109;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29546409 chr22_29546409_T_TTTTTC T TTTTTC 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.814;CADDIndel_Rawscore=-0.070589;CSQ=TTTTC|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||1/18|ENST00000358079.8:c.97-1811_97-1807dup|||||||rs55872235||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||2/19|ENST00000397871.5:c.97-1811_97-1807dup|||||||rs55872235||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||3/20|ENST00000397872.5:c.97-1811_97-1807dup|||||||rs55872235||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||3/20|ENST00000397873.6:c.97-1811_97-1807dup|||||||rs55872235||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||3/6|ENST00000414902.5:c.97-1811_97-1807dup|||||||rs55872235||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||4/5|ENST00000418021.1:c.97-1811_97-1807dup|||||||rs55872235||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||2/5|ENST00000428374.5:c.97-1811_97-1807dup|||||||rs55872235||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||3/7|ENST00000440771.5:c.97-1811_97-1807dup|||||||rs55872235||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||3/22|ENST00000442555.5:c.97-1811_97-1807dup|||||||rs55872235||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs55872235|3521|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs55872235|1265|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||1/6|ENST00000475187.5:n.94-1811_94-1807dup|||||||rs55872235||-1||HGNC|HGNC:19074|1||||||||Ensembl|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||2/19|ENST00000490103.6:c.97-1811_97-1807dup|||||||rs55872235||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||3/20|NM_001002877.2:c.97-1811_97-1807dup|||||||rs55872235||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||3/20|NM_001002878.1:c.97-1811_97-1807dup|||||||rs55872235||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||||OK|||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||2/19|NM_001002879.1:c.97-1811_97-1807dup|||||||rs55872235||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||||OK|||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||2/19|NM_003678.5:c.97-1811_97-1807dup|||||||rs55872235||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||2/20|XM_005261797.2:c.97-1811_97-1807dup|||||||rs55872235||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||3/21|XM_005261798.2:c.97-1811_97-1807dup|||||||rs55872235||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||2/20|XM_005261799.2:c.97-1811_97-1807dup|||||||rs55872235||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||3/21|XM_006724347.2:c.97-1811_97-1807dup|||||||rs55872235||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||3/21|XM_047441558.1:c.97-1811_97-1807dup|||||||rs55872235||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq|||||||chr22:g.29546413_29546417dup|||||||||||||,TTTTC|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||3/20|XM_047441559.1:c.97-1811_97-1807dup|||||||rs55872235||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq|||||||chr22:g.29546413_29546417dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC,TTTTC;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=130244;gnomADv4_1_AC_joint_XX=66649;gnomADv4_1_AC_joint_XY=63595;gnomADv4_1_AF_grpmax_joint=0.960124;gnomADv4_1_AF_joint=0.859186;gnomADv4_1_AF_joint_XX=0.859034;gnomADv4_1_AF_joint_XY=0.859345;gnomADv4_1_AN_grpmax_joint=41378;gnomADv4_1_AN_joint=151590;gnomADv4_1_AN_joint_XX=77586;gnomADv4_1_AN_joint_XY=74004;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=56412;gnomADv4_1_nhomalt_joint_XX=28850;gnomADv4_1_nhomalt_joint_XY=27562;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29546552 chr22_29546552_TGGAGATTACA_T TGGAGATTACA T 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.368;CADDIndel_Rawscore=-0.270035;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||1/18|ENST00000358079.8:c.97-1959_97-1950del|||||||rs55710710||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||2/19|ENST00000397871.5:c.97-1959_97-1950del|||||||rs55710710||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||3/20|ENST00000397872.5:c.97-1959_97-1950del|||||||rs55710710||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||3/20|ENST00000397873.6:c.97-1959_97-1950del|||||||rs55710710||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||3/6|ENST00000414902.5:c.97-1959_97-1950del|||||||rs55710710||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||4/5|ENST00000418021.1:c.97-1959_97-1950del|||||||rs55710710||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||2/5|ENST00000428374.5:c.97-1959_97-1950del|||||||rs55710710||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||3/7|ENST00000440771.5:c.97-1959_97-1950del|||||||rs55710710||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||3/22|ENST00000442555.5:c.97-1959_97-1950del|||||||rs55710710||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs55710710|3665|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs55710710|1409|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||1/6|ENST00000475187.5:n.94-1959_94-1950del|||||||rs55710710||-1||HGNC|HGNC:19074|1||||||||Ensembl||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||2/19|ENST00000490103.6:c.97-1959_97-1950del|||||||rs55710710||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||3/20|NM_001002877.2:c.97-1959_97-1950del|||||||rs55710710||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||3/20|NM_001002878.1:c.97-1959_97-1950del|||||||rs55710710||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||GGAGATTACA|GGAGATTACA|OK|||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||2/19|NM_001002879.1:c.97-1959_97-1950del|||||||rs55710710||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||GGAGATTACA|GGAGATTACA|OK|||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||2/19|NM_003678.5:c.97-1959_97-1950del|||||||rs55710710||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||2/20|XM_005261797.2:c.97-1959_97-1950del|||||||rs55710710||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||3/21|XM_005261798.2:c.97-1959_97-1950del|||||||rs55710710||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||2/20|XM_005261799.2:c.97-1959_97-1950del|||||||rs55710710||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||3/21|XM_006724347.2:c.97-1959_97-1950del|||||||rs55710710||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||3/21|XM_047441558.1:c.97-1959_97-1950del|||||||rs55710710||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||3/20|XM_047441559.1:c.97-1959_97-1950del|||||||rs55710710||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||GGAGATTACA|GGAGATTACA||||chr22:g.29546554_29546563del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=121461;gnomADv4_1_AC_joint_XX=61995;gnomADv4_1_AC_joint_XY=59466;gnomADv4_1_AF_grpmax_joint=0.879618;gnomADv4_1_AF_joint=0.802242;gnomADv4_1_AF_joint_XX=0.800576;gnomADv4_1_AF_joint_XY=0.803986;gnomADv4_1_AN_grpmax_joint=41302;gnomADv4_1_AN_joint=151402;gnomADv4_1_AN_joint_XX=77438;gnomADv4_1_AN_joint_XY=73964;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=48966;gnomADv4_1_nhomalt_joint_XX=24940;gnomADv4_1_nhomalt_joint_XY=24026;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29546720 chr22_29546720_G_A G A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.16;CADD_Rawscore=-0.485643;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||1/18|ENST00000358079.8:c.97-2117C>T|||||||rs1316094||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||2/19|ENST00000397871.5:c.97-2117C>T|||||||rs1316094||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||3/20|ENST00000397872.5:c.97-2117C>T|||||||rs1316094||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||3/20|ENST00000397873.6:c.97-2117C>T|||||||rs1316094||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||3/6|ENST00000414902.5:c.97-2117C>T|||||||rs1316094||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||4/5|ENST00000418021.1:c.97-2117C>T|||||||rs1316094||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||2/5|ENST00000428374.5:c.97-2117C>T|||||||rs1316094||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||3/7|ENST00000440771.5:c.97-2117C>T|||||||rs1316094||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||3/22|ENST00000442555.5:c.97-2117C>T|||||||rs1316094||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29546720G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs1316094|3832|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||G|G||||chr22:g.29546720G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs1316094|1576|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||1/6|ENST00000475187.5:n.94-2117C>T|||||||rs1316094||-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||2/19|ENST00000490103.6:c.97-2117C>T|||||||rs1316094||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||3/20|NM_001002877.2:c.97-2117C>T|||||||rs1316094||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||3/20|NM_001002878.1:c.97-2117C>T|||||||rs1316094||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29546720G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||2/19|NM_001002879.1:c.97-2117C>T|||||||rs1316094||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29546720G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||2/19|NM_003678.5:c.97-2117C>T|||||||rs1316094||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||2/20|XM_005261797.2:c.97-2117C>T|||||||rs1316094||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||3/21|XM_005261798.2:c.97-2117C>T|||||||rs1316094||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||2/20|XM_005261799.2:c.97-2117C>T|||||||rs1316094||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||3/21|XM_006724347.2:c.97-2117C>T|||||||rs1316094||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||3/21|XM_047441558.1:c.97-2117C>T|||||||rs1316094||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29546720G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||3/20|XM_047441559.1:c.97-2117C>T|||||||rs1316094||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29546720G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|-15|48|9|-49;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=130698;gnomADv4_1_AC_joint_XX=66770;gnomADv4_1_AC_joint_XY=63928;gnomADv4_1_AF_grpmax_joint=0.959695;gnomADv4_1_AF_joint=0.859505;gnomADv4_1_AF_joint_XX=0.858977;gnomADv4_1_AF_joint_XY=0.860057;gnomADv4_1_AN_grpmax_joint=41508;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=56624;gnomADv4_1_nhomalt_joint_XX=28901;gnomADv4_1_nhomalt_joint_XY=27723;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29547004 chr22_29547004_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=3.706;CADD_Rawscore=0.339157;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||1/18|ENST00000358079.8:c.96+2048G>A|||||||rs2348677||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||2/19|ENST00000397871.5:c.96+2048G>A|||||||rs2348677||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||3/20|ENST00000397872.5:c.96+2048G>A|||||||rs2348677||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||3/20|ENST00000397873.6:c.96+2048G>A|||||||rs2348677||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||3/6|ENST00000414902.5:c.96+2048G>A|||||||rs2348677||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||4/5|ENST00000418021.1:c.96+2048G>A|||||||rs2348677||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||2/5|ENST00000428374.5:c.96+2048G>A|||||||rs2348677||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||3/7|ENST00000440771.5:c.96+2048G>A|||||||rs2348677||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||3/22|ENST00000442555.5:c.96+2048G>A|||||||rs2348677||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29547004C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs2348677|4116|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||C|C||||chr22:g.29547004C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs2348677|1860|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||1/6|ENST00000475187.5:n.93+2048G>A|||||||rs2348677||-1||HGNC|HGNC:19074|1||||||||Ensembl||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||2/19|ENST00000490103.6:c.96+2048G>A|||||||rs2348677||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||3/20|NM_001002877.2:c.96+2048G>A|||||||rs2348677||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||3/20|NM_001002878.1:c.96+2048G>A|||||||rs2348677||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29547004C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||2/19|NM_001002879.1:c.96+2048G>A|||||||rs2348677||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29547004C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||2/19|NM_003678.5:c.96+2048G>A|||||||rs2348677||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||2/20|XM_005261797.2:c.96+2048G>A|||||||rs2348677||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||3/21|XM_005261798.2:c.96+2048G>A|||||||rs2348677||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||2/20|XM_005261799.2:c.96+2048G>A|||||||rs2348677||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||3/21|XM_006724347.2:c.96+2048G>A|||||||rs2348677||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||3/21|XM_047441558.1:c.96+2048G>A|||||||rs2348677||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29547004C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||3/20|XM_047441559.1:c.96+2048G>A|||||||rs2348677||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29547004C>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-33|-1|-9|-1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37535;gnomADv4_1_AC_joint_XX=19569;gnomADv4_1_AC_joint_XY=17966;gnomADv4_1_AF_grpmax_joint=0.319727;gnomADv4_1_AF_joint=0.247455;gnomADv4_1_AF_joint_XX=0.252353;gnomADv4_1_AF_joint_XY=0.242332;gnomADv4_1_AN_grpmax_joint=5120;gnomADv4_1_AN_joint=151684;gnomADv4_1_AN_joint_XX=77546;gnomADv4_1_AN_joint_XY=74138;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4714;gnomADv4_1_nhomalt_joint_XX=2467;gnomADv4_1_nhomalt_joint_XY=2247;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29547136 chr22_29547136_A_G A G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.559;CADD_Rawscore=-0.165258;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||1/18|ENST00000358079.8:c.96+1916T>C|||||||rs457335||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||2/19|ENST00000397871.5:c.96+1916T>C|||||||rs457335||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||3/20|ENST00000397872.5:c.96+1916T>C|||||||rs457335||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||3/20|ENST00000397873.6:c.96+1916T>C|||||||rs457335||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||3/6|ENST00000414902.5:c.96+1916T>C|||||||rs457335||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||4/5|ENST00000418021.1:c.96+1916T>C|||||||rs457335||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||2/5|ENST00000428374.5:c.96+1916T>C|||||||rs457335||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||3/7|ENST00000440771.5:c.96+1916T>C|||||||rs457335||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||3/22|ENST00000442555.5:c.96+1916T>C|||||||rs457335||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29547136A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000443089|protein_coding||||||||||rs457335|4248|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:19074|2||ENSP00000393247||H7C072.75|UPI0003F4835D|||Ensembl||A|A||||chr22:g.29547136A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs457335|1992|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||1/6|ENST00000475187.5:n.93+1916T>C|||||||rs457335||-1||HGNC|HGNC:19074|1||||||||Ensembl||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||2/19|ENST00000490103.6:c.96+1916T>C|||||||rs457335||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||3/20|NM_001002877.2:c.96+1916T>C|||||||rs457335||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||3/20|NM_001002878.1:c.96+1916T>C|||||||rs457335||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29547136A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||2/19|NM_001002879.1:c.96+1916T>C|||||||rs457335||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29547136A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||2/19|NM_003678.5:c.96+1916T>C|||||||rs457335||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||2/20|XM_005261797.2:c.96+1916T>C|||||||rs457335||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||3/21|XM_005261798.2:c.96+1916T>C|||||||rs457335||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||2/20|XM_005261799.2:c.96+1916T>C|||||||rs457335||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||3/21|XM_006724347.2:c.96+1916T>C|||||||rs457335||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||3/21|XM_047441558.1:c.96+1916T>C|||||||rs457335||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29547136A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||3/20|XM_047441559.1:c.96+1916T>C|||||||rs457335||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29547136A>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|7|-38|-47|15;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000443089,ENST00000455450,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=122017;gnomADv4_1_AC_joint_XX=62263;gnomADv4_1_AC_joint_XY=59754;gnomADv4_1_AF_grpmax_joint=0.879412;gnomADv4_1_AF_joint=0.801931;gnomADv4_1_AF_joint_XX=0.800481;gnomADv4_1_AF_joint_XY=0.803448;gnomADv4_1_AN_grpmax_joint=41530;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=49215;gnomADv4_1_nhomalt_joint_XX=25060;gnomADv4_1_nhomalt_joint_XY=24155;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29548424 chr22_29548424_G_A G A 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.157;CADD_Rawscore=-0.490814;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||1/18|ENST00000358079.8:c.96+628C>T|||||||rs11090569||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||2/19|ENST00000397871.5:c.96+628C>T|||||||rs11090569||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||3/20|ENST00000397872.5:c.96+628C>T|||||||rs11090569||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||3/20|ENST00000397873.6:c.96+628C>T|||||||rs11090569||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||3/6|ENST00000414902.5:c.96+628C>T|||||||rs11090569||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||4/5|ENST00000418021.1:c.96+628C>T|||||||rs11090569||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||2/5|ENST00000428374.5:c.96+628C>T|||||||rs11090569||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||3/7|ENST00000440771.5:c.96+628C>T|||||||rs11090569||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||3/22|ENST00000442555.5:c.96+628C>T|||||||rs11090569||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29548424G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs11090569|3280|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||1/6|ENST00000475187.5:n.93+628C>T|||||||rs11090569||-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||2/19|ENST00000490103.6:c.96+628C>T|||||||rs11090569||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||3/20|NM_001002877.2:c.96+628C>T|||||||rs11090569||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||3/20|NM_001002878.1:c.96+628C>T|||||||rs11090569||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29548424G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||2/19|NM_001002879.1:c.96+628C>T|||||||rs11090569||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29548424G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||2/19|NM_003678.5:c.96+628C>T|||||||rs11090569||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||2/20|XM_005261797.2:c.96+628C>T|||||||rs11090569||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||3/21|XM_005261798.2:c.96+628C>T|||||||rs11090569||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||2/20|XM_005261799.2:c.96+628C>T|||||||rs11090569||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||3/21|XM_006724347.2:c.96+628C>T|||||||rs11090569||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||3/21|XM_047441558.1:c.96+628C>T|||||||rs11090569||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29548424G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||3/20|XM_047441559.1:c.96+628C>T|||||||rs11090569||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29548424G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|-36|17|22|-22;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000455450,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37617;gnomADv4_1_AC_joint_XX=19628;gnomADv4_1_AC_joint_XY=17989;gnomADv4_1_AF_grpmax_joint=0.315789;gnomADv4_1_AF_joint=0.247598;gnomADv4_1_AF_joint_XX=0.252645;gnomADv4_1_AF_joint_XY=0.242315;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=151928;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4748;gnomADv4_1_nhomalt_joint_XX=2490;gnomADv4_1_nhomalt_joint_XY=2258;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29548812 chr22_29548812_T_A T A 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=11.38;CADD_Rawscore=1.10026;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||1/18|ENST00000358079.8:c.96+240A>T|||||||rs2240638||-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||2/19|ENST00000397871.5:c.96+240A>T|||||||rs2240638||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||3/20|ENST00000397872.5:c.96+240A>T|||||||rs2240638||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||3/20|ENST00000397873.6:c.96+240A>T|||||||rs2240638||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||3/6|ENST00000414902.5:c.96+240A>T|||||||rs2240638||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||4/5|ENST00000418021.1:c.96+240A>T|||||||rs2240638||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||2/5|ENST00000428374.5:c.96+240A>T|||||||rs2240638||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||3/7|ENST00000440771.5:c.96+240A>T|||||||rs2240638||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||3/22|ENST00000442555.5:c.96+240A>T|||||||rs2240638||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29548812T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000455450|protein_coding||||||||||rs2240638|3668|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000415425||H7C441.61|UPI0005C121B2|||Ensembl||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||1/6|ENST00000475187.5:n.93+240A>T|||||||rs2240638||-1||HGNC|HGNC:19074|1||||||||Ensembl||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||2/19|ENST00000490103.6:c.96+240A>T|||||||rs2240638||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||3/20|NM_001002877.2:c.96+240A>T|||||||rs2240638||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||3/20|NM_001002878.1:c.96+240A>T|||||||rs2240638||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29548812T>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||2/19|NM_001002879.1:c.96+240A>T|||||||rs2240638||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29548812T>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||2/19|NM_003678.5:c.96+240A>T|||||||rs2240638||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||2/20|XM_005261797.2:c.96+240A>T|||||||rs2240638||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||3/21|XM_005261798.2:c.96+240A>T|||||||rs2240638||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||2/20|XM_005261799.2:c.96+240A>T|||||||rs2240638||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||3/21|XM_006724347.2:c.96+240A>T|||||||rs2240638||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||3/21|XM_047441558.1:c.96+240A>T|||||||rs2240638||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29548812T>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||3/20|XM_047441559.1:c.96+240A>T|||||||rs2240638||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29548812T>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.01|0.00|2|-30|2|-10;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000455450,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37624;gnomADv4_1_AC_joint_XX=19623;gnomADv4_1_AC_joint_XY=18001;gnomADv4_1_AF_grpmax_joint=0.316382;gnomADv4_1_AF_joint=0.247657;gnomADv4_1_AF_joint_XX=0.252574;gnomADv4_1_AF_joint_XY=0.24251;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4748;gnomADv4_1_nhomalt_joint_XX=2487;gnomADv4_1_nhomalt_joint_XY=2261;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29551213 chr22_29551213_C_G C G 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.385;CADD_Rawscore=-0.258711;CSQ=G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs468356|3595|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29551213C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs468356|2056|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||1/19|ENST00000397871.5:c.-11-2055G>C|||||||rs468356||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||1/20|ENST00000397872.5:c.-127-370G>C|||||||rs468356||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||1/20|ENST00000397873.6:c.-127-370G>C|||||||rs468356||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||1/6|ENST00000414902.5:c.-127-370G>C|||||||rs468356||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||2/5|ENST00000418021.1:c.-127-370G>C|||||||rs468356||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||1/5|ENST00000428374.5:c.-11-2055G>C|||||||rs468356||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||1/7|ENST00000440771.5:c.-127-370G>C|||||||rs468356||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||1/22|ENST00000442555.5:c.-127-370G>C|||||||rs468356||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29551213C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs468356|2069|-1||HGNC|HGNC:19074|1||||||||Ensembl||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||1/19|ENST00000490103.6:c.-11-2055G>C|||||||rs468356||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||1/20|NM_001002877.2:c.-127-370G>C|||||||rs468356||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||1/20|NM_001002878.1:c.-127-370G>C|||||||rs468356||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29551213C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||1/19|NM_001002879.1:c.-11-2055G>C|||||||rs468356||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29551213C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs468356|3595|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29551213C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs468356|3595|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||1/19|NM_003678.5:c.-11-2055G>C|||||||rs468356||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||1/20|XM_005261797.2:c.-11-2055G>C|||||||rs468356||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||1/21|XM_005261798.2:c.-127-370G>C|||||||rs468356||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||1/20|XM_005261799.2:c.-11-2055G>C|||||||rs468356||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||1/21|XM_006724347.2:c.-127-370G>C|||||||rs468356||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||1/21|XM_047441558.1:c.-119-378G>C|||||||rs468356||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29551213C>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||1/20|XM_047441559.1:c.-119-378G>C|||||||rs468356||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29551213C>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|2|27|24|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=121814;gnomADv4_1_AC_joint_XX=62174;gnomADv4_1_AC_joint_XY=59640;gnomADv4_1_AF_grpmax_joint=0.878898;gnomADv4_1_AF_joint=0.801872;gnomADv4_1_AF_joint_XX=0.800324;gnomADv4_1_AF_joint_XY=0.803492;gnomADv4_1_AN_grpmax_joint=41436;gnomADv4_1_AN_joint=151912;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=49124;gnomADv4_1_nhomalt_joint_XX=25018;gnomADv4_1_nhomalt_joint_XY=24106;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29551391 chr22_29551391_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.224;CADD_Rawscore=-0.396949;CSQ=G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs468019|3417|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29551391A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs468019|2234|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||1/19|ENST00000397871.5:c.-12+2057T>C|||||||rs468019||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||1/20|ENST00000397872.5:c.-127-548T>C|||||||rs468019||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||1/20|ENST00000397873.6:c.-127-548T>C|||||||rs468019||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||1/6|ENST00000414902.5:c.-127-548T>C|||||||rs468019||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||2/5|ENST00000418021.1:c.-127-548T>C|||||||rs468019||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||1/5|ENST00000428374.5:c.-12+2057T>C|||||||rs468019||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||1/7|ENST00000440771.5:c.-127-548T>C|||||||rs468019||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||1/22|ENST00000442555.5:c.-127-548T>C|||||||rs468019||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29551391A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs468019|2247|-1||HGNC|HGNC:19074|1||||||||Ensembl||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||1/19|ENST00000490103.6:c.-11-2233T>C|||||||rs468019||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||1/20|NM_001002877.2:c.-127-548T>C|||||||rs468019||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||1/20|NM_001002878.1:c.-127-548T>C|||||||rs468019||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29551391A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||1/19|NM_001002879.1:c.-12+2057T>C|||||||rs468019||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29551391A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs468019|3417|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29551391A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs468019|3417|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||1/19|NM_003678.5:c.-11-2233T>C|||||||rs468019||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||1/20|XM_005261797.2:c.-11-2233T>C|||||||rs468019||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||1/21|XM_005261798.2:c.-127-548T>C|||||||rs468019||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||1/20|XM_005261799.2:c.-12+2057T>C|||||||rs468019||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||1/21|XM_006724347.2:c.-127-548T>C|||||||rs468019||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||1/21|XM_047441558.1:c.-119-556T>C|||||||rs468019||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29551391A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||1/20|XM_047441559.1:c.-119-556T>C|||||||rs468019||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29551391A>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|40|16|-40|16;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=121836;gnomADv4_1_AC_joint_XX=62172;gnomADv4_1_AC_joint_XY=59664;gnomADv4_1_AF_grpmax_joint=0.878813;gnomADv4_1_AF_joint=0.801774;gnomADv4_1_AF_joint_XX=0.80036;gnomADv4_1_AF_joint_XY=0.803253;gnomADv4_1_AN_grpmax_joint=41440;gnomADv4_1_AN_joint=151958;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=49139;gnomADv4_1_nhomalt_joint_XX=25021;gnomADv4_1_nhomalt_joint_XY=24118;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29551677 chr22_29551677_G_A G A 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.33;CADD_Rawscore=-0.298075;CSQ=A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs67292640|3131|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29551677G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs67292640|2520|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||1/19|ENST00000397871.5:c.-12+1771C>T|||||||rs67292640||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||1/20|ENST00000397872.5:c.-127-834C>T|||||||rs67292640||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||1/20|ENST00000397873.6:c.-127-834C>T|||||||rs67292640||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||1/6|ENST00000414902.5:c.-127-834C>T|||||||rs67292640||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||2/5|ENST00000418021.1:c.-127-834C>T|||||||rs67292640||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||1/5|ENST00000428374.5:c.-12+1771C>T|||||||rs67292640||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||1/7|ENST00000440771.5:c.-127-834C>T|||||||rs67292640||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||1/22|ENST00000442555.5:c.-127-834C>T|||||||rs67292640||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29551677G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs67292640|2533|-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||1/19|ENST00000490103.6:c.-12+1994C>T|||||||rs67292640||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||1/20|NM_001002877.2:c.-127-834C>T|||||||rs67292640||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||1/20|NM_001002878.1:c.-127-834C>T|||||||rs67292640||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29551677G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||1/19|NM_001002879.1:c.-12+1771C>T|||||||rs67292640||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29551677G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs67292640|3131|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29551677G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs67292640|3131|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||1/19|NM_003678.5:c.-12+1994C>T|||||||rs67292640||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||1/20|XM_005261797.2:c.-12+1994C>T|||||||rs67292640||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||1/21|XM_005261798.2:c.-127-834C>T|||||||rs67292640||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||1/20|XM_005261799.2:c.-12+1771C>T|||||||rs67292640||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||1/21|XM_006724347.2:c.-127-834C>T|||||||rs67292640||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||1/21|XM_047441558.1:c.-119-842C>T|||||||rs67292640||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29551677G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||1/20|XM_047441559.1:c.-119-842C>T|||||||rs67292640||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29551677G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|-3|45|8|41;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37538;gnomADv4_1_AC_joint_XX=19578;gnomADv4_1_AC_joint_XY=17960;gnomADv4_1_AF_grpmax_joint=0.315146;gnomADv4_1_AF_joint=0.247247;gnomADv4_1_AF_joint_XX=0.252229;gnomADv4_1_AF_joint_XY=0.242035;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151824;gnomADv4_1_AN_joint_XX=77620;gnomADv4_1_AN_joint_XY=74204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4733;gnomADv4_1_nhomalt_joint_XX=2483;gnomADv4_1_nhomalt_joint_XY=2250;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29551921 chr22_29551921_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.108;CADD_Rawscore=0.008711;CSQ=G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs6006187|2887|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29551921A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs6006187|2764|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||1/19|ENST00000397871.5:c.-12+1527T>C|||||||rs6006187||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||1/20|ENST00000397872.5:c.-127-1078T>C|||||||rs6006187||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||1/20|ENST00000397873.6:c.-127-1078T>C|||||||rs6006187||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||1/6|ENST00000414902.5:c.-127-1078T>C|||||||rs6006187||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||2/5|ENST00000418021.1:c.-127-1078T>C|||||||rs6006187||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||1/5|ENST00000428374.5:c.-12+1527T>C|||||||rs6006187||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||1/7|ENST00000440771.5:c.-127-1078T>C|||||||rs6006187||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||1/22|ENST00000442555.5:c.-127-1078T>C|||||||rs6006187||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29551921A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs6006187|2777|-1||HGNC|HGNC:19074|1||||||||Ensembl||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||1/19|ENST00000490103.6:c.-12+1750T>C|||||||rs6006187||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||1/20|NM_001002877.2:c.-127-1078T>C|||||||rs6006187||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||1/20|NM_001002878.1:c.-127-1078T>C|||||||rs6006187||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29551921A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||1/19|NM_001002879.1:c.-12+1527T>C|||||||rs6006187||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29551921A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs6006187|2887|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29551921A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs6006187|2887|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||1/19|NM_003678.5:c.-12+1750T>C|||||||rs6006187||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||1/20|XM_005261797.2:c.-12+1750T>C|||||||rs6006187||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||1/21|XM_005261798.2:c.-127-1078T>C|||||||rs6006187||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||1/20|XM_005261799.2:c.-12+1527T>C|||||||rs6006187||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||1/21|XM_006724347.2:c.-127-1078T>C|||||||rs6006187||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||1/21|XM_047441558.1:c.-119-1086T>C|||||||rs6006187||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29551921A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||1/20|XM_047441559.1:c.-119-1086T>C|||||||rs6006187||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29551921A>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|23|-5|-48|41;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=120873;gnomADv4_1_AC_joint_XX=61712;gnomADv4_1_AC_joint_XY=59161;gnomADv4_1_AF_grpmax_joint=0.878491;gnomADv4_1_AF_joint=0.801237;gnomADv4_1_AF_joint_XX=0.799689;gnomADv4_1_AF_joint_XY=0.802858;gnomADv4_1_AN_grpmax_joint=41174;gnomADv4_1_AN_joint=150858;gnomADv4_1_AN_joint_XX=77170;gnomADv4_1_AN_joint_XY=73688;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=48714;gnomADv4_1_nhomalt_joint_XX=24819;gnomADv4_1_nhomalt_joint_XY=23895;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29551931 chr22_29551931_G_A G A 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.633;CADD_Rawscore=-0.133989;CSQ=A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs6006188|2877|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29551931G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs6006188|2774|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||1/19|ENST00000397871.5:c.-12+1517C>T|||||||rs6006188||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||1/20|ENST00000397872.5:c.-127-1088C>T|||||||rs6006188||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||1/20|ENST00000397873.6:c.-127-1088C>T|||||||rs6006188||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||1/6|ENST00000414902.5:c.-127-1088C>T|||||||rs6006188||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||2/5|ENST00000418021.1:c.-127-1088C>T|||||||rs6006188||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||1/5|ENST00000428374.5:c.-12+1517C>T|||||||rs6006188||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||1/7|ENST00000440771.5:c.-127-1088C>T|||||||rs6006188||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||1/22|ENST00000442555.5:c.-127-1088C>T|||||||rs6006188||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29551931G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs6006188|2787|-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||1/19|ENST00000490103.6:c.-12+1740C>T|||||||rs6006188||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||1/20|NM_001002877.2:c.-127-1088C>T|||||||rs6006188||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||1/20|NM_001002878.1:c.-127-1088C>T|||||||rs6006188||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29551931G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||1/19|NM_001002879.1:c.-12+1517C>T|||||||rs6006188||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29551931G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs6006188|2877|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29551931G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs6006188|2877|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||1/19|NM_003678.5:c.-12+1740C>T|||||||rs6006188||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||1/20|XM_005261797.2:c.-12+1740C>T|||||||rs6006188||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||1/21|XM_005261798.2:c.-127-1088C>T|||||||rs6006188||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||1/20|XM_005261799.2:c.-12+1517C>T|||||||rs6006188||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||1/21|XM_006724347.2:c.-127-1088C>T|||||||rs6006188||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||1/21|XM_047441558.1:c.-119-1096C>T|||||||rs6006188||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29551931G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||1/20|XM_047441559.1:c.-119-1096C>T|||||||rs6006188||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29551931G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|-15|13|19|-14;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=120989;gnomADv4_1_AC_joint_XX=61768;gnomADv4_1_AC_joint_XY=59221;gnomADv4_1_AF_grpmax_joint=0.878469;gnomADv4_1_AF_joint=0.801283;gnomADv4_1_AF_joint_XX=0.799751;gnomADv4_1_AF_joint_XY=0.802888;gnomADv4_1_AN_grpmax_joint=41224;gnomADv4_1_AN_joint=150994;gnomADv4_1_AN_joint_XX=77234;gnomADv4_1_AN_joint_XY=73760;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=48773;gnomADv4_1_nhomalt_joint_XX=24846;gnomADv4_1_nhomalt_joint_XY=23927;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29552316 chr22_29552316_A_C A C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=41;CADD_PHREDscore=0.841;CADD_Rawscore=-0.062407;CSQ=C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs375415867|2492|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29552316A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs375415867|3159|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||1/19|ENST00000397871.5:c.-12+1132T>G|||||||rs375415867||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||1/20|ENST00000397872.5:c.-128+1132T>G|||||||rs375415867||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||1/20|ENST00000397873.6:c.-128+1355T>G|||||||rs375415867||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||1/6|ENST00000414902.5:c.-128+1355T>G|||||||rs375415867||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||2/5|ENST00000418021.1:c.-128+1355T>G|||||||rs375415867||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||1/5|ENST00000428374.5:c.-12+1132T>G|||||||rs375415867||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||1/7|ENST00000440771.5:c.-128+1132T>G|||||||rs375415867||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||1/22|ENST00000442555.5:c.-128+1355T>G|||||||rs375415867||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29552316A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs375415867|3172|-1||HGNC|HGNC:19074|1||||||||Ensembl||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||1/19|ENST00000490103.6:c.-12+1355T>G|||||||rs375415867||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||1/20|NM_001002877.2:c.-128+1355T>G|||||||rs375415867||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||1/20|NM_001002878.1:c.-128+1132T>G|||||||rs375415867||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29552316A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||1/19|NM_001002879.1:c.-12+1132T>G|||||||rs375415867||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29552316A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs375415867|2492|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29552316A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs375415867|2492|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||1/19|NM_003678.5:c.-12+1355T>G|||||||rs375415867||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||1/20|XM_005261797.2:c.-12+1355T>G|||||||rs375415867||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||1/21|XM_005261798.2:c.-128+1355T>G|||||||rs375415867||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||1/20|XM_005261799.2:c.-12+1132T>G|||||||rs375415867||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||1/21|XM_006724347.2:c.-128+1132T>G|||||||rs375415867||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||1/21|XM_047441558.1:c.-120+1132T>G|||||||rs375415867||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29552316A>C|||||||||||||,C|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||1/20|XM_047441559.1:c.-120+1132T>G|||||||rs375415867||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29552316A>C|||||||||||||;SpliceAI=C|THOC5|0.00|0.00|0.00|0.00|-10|11|1|-10;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216121,ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29522;gnomADv4_1_AC_joint_XX=15250;gnomADv4_1_AC_joint_XY=14272;gnomADv4_1_AF_grpmax_joint=0.441302;gnomADv4_1_AF_joint=0.226608;gnomADv4_1_AF_joint_XX=0.227076;gnomADv4_1_AF_joint_XY=0.226109;gnomADv4_1_AN_grpmax_joint=4702;gnomADv4_1_AN_joint=130278;gnomADv4_1_AN_joint_XX=67158;gnomADv4_1_AN_joint_XY=63120;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3156;gnomADv4_1_nhomalt_joint_XX=1640;gnomADv4_1_nhomalt_joint_XY=1516;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29552318 chr22_29552318_C_A C A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.147;CADD_Rawscore=-0.508168;CSQ=A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs566944782|2490|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29552318C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs566944782|3161|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||1/19|ENST00000397871.5:c.-12+1130G>T|||||||rs566944782||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||1/20|ENST00000397872.5:c.-128+1130G>T|||||||rs566944782||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||1/20|ENST00000397873.6:c.-128+1353G>T|||||||rs566944782||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||1/6|ENST00000414902.5:c.-128+1353G>T|||||||rs566944782||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||2/5|ENST00000418021.1:c.-128+1353G>T|||||||rs566944782||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||1/5|ENST00000428374.5:c.-12+1130G>T|||||||rs566944782||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||1/7|ENST00000440771.5:c.-128+1130G>T|||||||rs566944782||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||1/22|ENST00000442555.5:c.-128+1353G>T|||||||rs566944782||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29552318C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs566944782|3174|-1||HGNC|HGNC:19074|1||||||||Ensembl||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||1/19|ENST00000490103.6:c.-12+1353G>T|||||||rs566944782||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||1/20|NM_001002877.2:c.-128+1353G>T|||||||rs566944782||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||1/20|NM_001002878.1:c.-128+1130G>T|||||||rs566944782||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29552318C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||1/19|NM_001002879.1:c.-12+1130G>T|||||||rs566944782||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29552318C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs566944782|2490|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29552318C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs566944782|2490|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||1/19|NM_003678.5:c.-12+1353G>T|||||||rs566944782||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||1/20|XM_005261797.2:c.-12+1353G>T|||||||rs566944782||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||1/21|XM_005261798.2:c.-128+1353G>T|||||||rs566944782||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||1/20|XM_005261799.2:c.-12+1130G>T|||||||rs566944782||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||1/21|XM_006724347.2:c.-128+1130G>T|||||||rs566944782||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||1/21|XM_047441558.1:c.-120+1130G>T|||||||rs566944782||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29552318C>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||1/20|XM_047441559.1:c.-120+1130G>T|||||||rs566944782||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29552318C>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.01|0.00|9|0|-12|0;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29505;gnomADv4_1_AC_joint_XX=15236;gnomADv4_1_AC_joint_XY=14269;gnomADv4_1_AF_grpmax_joint=0.420667;gnomADv4_1_AF_joint=0.197514;gnomADv4_1_AF_joint_XX=0.199294;gnomADv4_1_AF_joint_XY=0.195648;gnomADv4_1_AN_grpmax_joint=4916;gnomADv4_1_AN_joint=149382;gnomADv4_1_AN_joint_XX=76450;gnomADv4_1_AN_joint_XY=72932;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3155;gnomADv4_1_nhomalt_joint_XX=1637;gnomADv4_1_nhomalt_joint_XY=1518;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29552420 chr22_29552420_A_G A G 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.75;AF_XX=.;AF_XY=0.75;AN=4;AN_XX=0;AN_XY=4;AQ=52;CADD_PHREDscore=1.984;CADD_Rawscore=0.161791;CSQ=G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs2881995|2388|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29552420A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs2881995|3263|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||1/19|ENST00000397871.5:c.-12+1028T>C|||||||rs2881995||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||1/20|ENST00000397872.5:c.-128+1028T>C|||||||rs2881995||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||1/20|ENST00000397873.6:c.-128+1251T>C|||||||rs2881995||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||1/6|ENST00000414902.5:c.-128+1251T>C|||||||rs2881995||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||2/5|ENST00000418021.1:c.-128+1251T>C|||||||rs2881995||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||1/5|ENST00000428374.5:c.-12+1028T>C|||||||rs2881995||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||1/7|ENST00000440771.5:c.-128+1028T>C|||||||rs2881995||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||1/22|ENST00000442555.5:c.-128+1251T>C|||||||rs2881995||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29552420A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs2881995|3276|-1||HGNC|HGNC:19074|1||||||||Ensembl||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||1/19|ENST00000490103.6:c.-12+1251T>C|||||||rs2881995||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||1/20|NM_001002877.2:c.-128+1251T>C|||||||rs2881995||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||1/20|NM_001002878.1:c.-128+1028T>C|||||||rs2881995||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29552420A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||1/19|NM_001002879.1:c.-12+1028T>C|||||||rs2881995||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29552420A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs2881995|2388|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29552420A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs2881995|2388|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||1/19|NM_003678.5:c.-12+1251T>C|||||||rs2881995||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||1/20|XM_005261797.2:c.-12+1251T>C|||||||rs2881995||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||1/21|XM_005261798.2:c.-128+1251T>C|||||||rs2881995||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||1/20|XM_005261799.2:c.-12+1028T>C|||||||rs2881995||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||1/21|XM_006724347.2:c.-128+1028T>C|||||||rs2881995||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||1/21|XM_047441558.1:c.-120+1028T>C|||||||rs2881995||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29552420A>G|||||||||||||,G|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||1/20|XM_047441559.1:c.-120+1028T>C|||||||rs2881995||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29552420A>G|||||||||||||;SpliceAI=G|THOC5|0.00|0.00|0.00|0.00|-35|2|-35|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66763;gnomADv4_1_AC_joint_XX=34675;gnomADv4_1_AC_joint_XY=32088;gnomADv4_1_AF_grpmax_joint=0.748984;gnomADv4_1_AF_joint=0.4704;gnomADv4_1_AF_joint_XX=0.477013;gnomADv4_1_AF_joint_XY=0.463458;gnomADv4_1_AN_grpmax_joint=4920;gnomADv4_1_AN_joint=141928;gnomADv4_1_AN_joint_XX=72692;gnomADv4_1_AN_joint_XY=69236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15331;gnomADv4_1_nhomalt_joint_XX=8051;gnomADv4_1_nhomalt_joint_XY=7280;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29552513 chr22_29552513_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=5.861;CADD_Rawscore=0.539242;CSQ=T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs55752411|2295|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29552513C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs55752411|3356|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||1/19|ENST00000397871.5:c.-12+935G>A|||||||rs55752411||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||1/20|ENST00000397872.5:c.-128+935G>A|||||||rs55752411||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||1/20|ENST00000397873.6:c.-128+1158G>A|||||||rs55752411||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||1/6|ENST00000414902.5:c.-128+1158G>A|||||||rs55752411||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||2/5|ENST00000418021.1:c.-128+1158G>A|||||||rs55752411||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||1/5|ENST00000428374.5:c.-12+935G>A|||||||rs55752411||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||1/7|ENST00000440771.5:c.-128+935G>A|||||||rs55752411||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||1/22|ENST00000442555.5:c.-128+1158G>A|||||||rs55752411||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29552513C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs55752411|3369|-1||HGNC|HGNC:19074|1||||||||Ensembl||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||1/19|ENST00000490103.6:c.-12+1158G>A|||||||rs55752411||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||1/20|NM_001002877.2:c.-128+1158G>A|||||||rs55752411||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||1/20|NM_001002878.1:c.-128+935G>A|||||||rs55752411||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29552513C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||1/19|NM_001002879.1:c.-12+935G>A|||||||rs55752411||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29552513C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs55752411|2295|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29552513C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs55752411|2295|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||1/19|NM_003678.5:c.-12+1158G>A|||||||rs55752411||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||1/20|XM_005261797.2:c.-12+1158G>A|||||||rs55752411||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||1/21|XM_005261798.2:c.-128+1158G>A|||||||rs55752411||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||1/20|XM_005261799.2:c.-12+935G>A|||||||rs55752411||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||1/21|XM_006724347.2:c.-128+935G>A|||||||rs55752411||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||1/21|XM_047441558.1:c.-120+935G>A|||||||rs55752411||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29552513C>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||1/20|XM_047441559.1:c.-120+935G>A|||||||rs55752411||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29552513C>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|-2|-50|-50|-8;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21133;gnomADv4_1_AC_joint_XX=10874;gnomADv4_1_AC_joint_XY=10259;gnomADv4_1_AF_grpmax_joint=0.411116;gnomADv4_1_AF_joint=0.139983;gnomADv4_1_AF_joint_XX=0.140669;gnomADv4_1_AF_joint_XY=0.139264;gnomADv4_1_AN_grpmax_joint=4984;gnomADv4_1_AN_joint=150968;gnomADv4_1_AN_joint_XX=77302;gnomADv4_1_AN_joint_XY=73666;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1908;gnomADv4_1_nhomalt_joint_XX=976;gnomADv4_1_nhomalt_joint_XY=932;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29552552 chr22_29552552_AG_A AG A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=1.145;CADDIndel_Rawscore=0.017471;CSQ=-|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs145763228|2255|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29552553del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs145763228|3396|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||1/19|ENST00000397871.5:c.-12+895del|||||||rs145763228||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||1/20|ENST00000397872.5:c.-128+895del|||||||rs145763228||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||1/20|ENST00000397873.6:c.-128+1118del|||||||rs145763228||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||1/6|ENST00000414902.5:c.-128+1118del|||||||rs145763228||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||2/5|ENST00000418021.1:c.-128+1118del|||||||rs145763228||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||1/5|ENST00000428374.5:c.-12+895del|||||||rs145763228||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||1/7|ENST00000440771.5:c.-128+895del|||||||rs145763228||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||1/22|ENST00000442555.5:c.-128+1118del|||||||rs145763228||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29552553del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs145763228|3409|-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||1/19|ENST00000490103.6:c.-12+1118del|||||||rs145763228||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||1/20|NM_001002877.2:c.-128+1118del|||||||rs145763228||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||1/20|NM_001002878.1:c.-128+895del|||||||rs145763228||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29552553del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||1/19|NM_001002879.1:c.-12+895del|||||||rs145763228||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29552553del|||||||||||||,-|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs145763228|2255|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29552553del|||||||||||||,-|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs145763228|2255|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||1/19|NM_003678.5:c.-12+1118del|||||||rs145763228||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||1/20|XM_005261797.2:c.-12+1118del|||||||rs145763228||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||1/21|XM_005261798.2:c.-128+1118del|||||||rs145763228||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||1/20|XM_005261799.2:c.-12+895del|||||||rs145763228||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||1/21|XM_006724347.2:c.-128+895del|||||||rs145763228||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||1/21|XM_047441558.1:c.-120+895del|||||||rs145763228||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29552553del|||||||||||||,-|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||1/20|XM_047441559.1:c.-120+895del|||||||rs145763228||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29552553del|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|11|1|3|28;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216121,ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36980;gnomADv4_1_AC_joint_XX=19335;gnomADv4_1_AC_joint_XY=17645;gnomADv4_1_AF_grpmax_joint=0.31764;gnomADv4_1_AF_joint=0.249797;gnomADv4_1_AF_joint_XX=0.255066;gnomADv4_1_AF_joint_XY=0.244269;gnomADv4_1_AN_grpmax_joint=4864;gnomADv4_1_AN_joint=148040;gnomADv4_1_AN_joint_XX=75804;gnomADv4_1_AN_joint_XY=72236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4618;gnomADv4_1_nhomalt_joint_XX=2431;gnomADv4_1_nhomalt_joint_XY=2187;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29552568 chr22_29552568_G_A G A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.779;CADD_Rawscore=-0.081809;CSQ=A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs55888944|2240|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29552568G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs55888944|3411|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||1/19|ENST00000397871.5:c.-12+880C>T|||||||rs55888944||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||1/20|ENST00000397872.5:c.-128+880C>T|||||||rs55888944||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||1/20|ENST00000397873.6:c.-128+1103C>T|||||||rs55888944||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||1/6|ENST00000414902.5:c.-128+1103C>T|||||||rs55888944||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||2/5|ENST00000418021.1:c.-128+1103C>T|||||||rs55888944||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||1/5|ENST00000428374.5:c.-12+880C>T|||||||rs55888944||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||1/7|ENST00000440771.5:c.-128+880C>T|||||||rs55888944||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||1/22|ENST00000442555.5:c.-128+1103C>T|||||||rs55888944||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29552568G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs55888944|3424|-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||1/19|ENST00000490103.6:c.-12+1103C>T|||||||rs55888944||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||1/20|NM_001002877.2:c.-128+1103C>T|||||||rs55888944||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||1/20|NM_001002878.1:c.-128+880C>T|||||||rs55888944||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29552568G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||1/19|NM_001002879.1:c.-12+880C>T|||||||rs55888944||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29552568G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs55888944|2240|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29552568G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs55888944|2240|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||1/19|NM_003678.5:c.-12+1103C>T|||||||rs55888944||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||1/20|XM_005261797.2:c.-12+1103C>T|||||||rs55888944||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||1/21|XM_005261798.2:c.-128+1103C>T|||||||rs55888944||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||1/20|XM_005261799.2:c.-12+880C>T|||||||rs55888944||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||1/21|XM_006724347.2:c.-128+880C>T|||||||rs55888944||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||1/21|XM_047441558.1:c.-120+880C>T|||||||rs55888944||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29552568G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||1/20|XM_047441559.1:c.-120+880C>T|||||||rs55888944||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29552568G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|-6|18|-8|25;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29740;gnomADv4_1_AC_joint_XX=15341;gnomADv4_1_AC_joint_XY=14399;gnomADv4_1_AF_grpmax_joint=0.425627;gnomADv4_1_AF_joint=0.198653;gnomADv4_1_AF_joint_XX=0.200358;gnomADv4_1_AF_joint_XY=0.196869;gnomADv4_1_AN_grpmax_joint=4948;gnomADv4_1_AN_joint=149708;gnomADv4_1_AN_joint_XX=76568;gnomADv4_1_AN_joint_XY=73140;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3209;gnomADv4_1_nhomalt_joint_XX=1651;gnomADv4_1_nhomalt_joint_XY=1558;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29553003 chr22_29553003_G_T G T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.185;CADD_Rawscore=0.026425;CSQ=T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs469285|1805|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29553003G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs469285|3846|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||1/19|ENST00000397871.5:c.-12+445C>A|||||||rs469285||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||1/20|ENST00000397872.5:c.-128+445C>A|||||||rs469285||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||1/20|ENST00000397873.6:c.-128+668C>A|||||||rs469285||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||1/6|ENST00000414902.5:c.-128+668C>A|||||||rs469285||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||2/5|ENST00000418021.1:c.-128+668C>A|||||||rs469285||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||1/5|ENST00000428374.5:c.-12+445C>A|||||||rs469285||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||1/7|ENST00000440771.5:c.-128+445C>A|||||||rs469285||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||1/22|ENST00000442555.5:c.-128+668C>A|||||||rs469285||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29553003G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs469285|3859|-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||1/19|ENST00000490103.6:c.-12+668C>A|||||||rs469285||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||1/20|NM_001002877.2:c.-128+668C>A|||||||rs469285||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||1/20|NM_001002878.1:c.-128+445C>A|||||||rs469285||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29553003G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||1/19|NM_001002879.1:c.-12+445C>A|||||||rs469285||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29553003G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs469285|1805|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29553003G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs469285|1805|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||1/19|NM_003678.5:c.-12+668C>A|||||||rs469285||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||1/20|XM_005261797.2:c.-12+668C>A|||||||rs469285||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||1/21|XM_005261798.2:c.-128+668C>A|||||||rs469285||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||1/20|XM_005261799.2:c.-12+445C>A|||||||rs469285||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||1/21|XM_006724347.2:c.-128+445C>A|||||||rs469285||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||1/21|XM_047441558.1:c.-120+445C>A|||||||rs469285||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29553003G>T|||||||||||||,T|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||1/20|XM_047441559.1:c.-120+445C>A|||||||rs469285||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29553003G>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7TCM|enhancer||||||||||rs469285|||||||||||||||||||||chr22:g.29553003G>T|||||||||||||;SpliceAI=T|THOC5|0.00|0.00|0.00|0.00|10|-27|1|10;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1,ENSR22_B7TCM;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563,.;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=130651;gnomADv4_1_AC_joint_XX=66758;gnomADv4_1_AC_joint_XY=63893;gnomADv4_1_AF_grpmax_joint=0.959356;gnomADv4_1_AF_joint=0.859286;gnomADv4_1_AF_joint_XX=0.858933;gnomADv4_1_AF_joint_XY=0.859655;gnomADv4_1_AN_grpmax_joint=41482;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=56585;gnomADv4_1_nhomalt_joint_XX=28891;gnomADv4_1_nhomalt_joint_XY=27694;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29553520 chr22_29553520_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=4.924;CADD_Rawscore=0.448733;CSQ=A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs469189|1288|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29553520G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000358079|nonsense_mediated_decay||||||||||rs469189|4363|-1||HGNC|HGNC:19074|5||ENSP00000444493||F5GZF3.58|UPI000204A807|||Ensembl||G|G||||chr22:g.29553520G>A|||||||||||||,A|5_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding|1/20||ENST00000397871.5:c.-84C>T||136|||||rs469189||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29553520G>A|||||||||0|0|1||,A|5_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding|1/21||ENST00000397872.5:c.-200C>T||136|||||rs469189||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29553520G>A|||||||||0|2|1||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||1/20|ENST00000397873.6:c.-128+151C>T|||||||rs469189||-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29553520G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||1/6|ENST00000414902.5:c.-128+151C>T|||||||rs469189||-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29553520G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||2/5|ENST00000418021.1:c.-128+151C>T|||||||rs469189||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29553520G>A|||||||||||||,A|5_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding|1/6||ENST00000428374.5:c.-84C>T||161|||||rs469189||-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29553520G>A|||||||||0|0|1||,A|5_prime_UTR_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding|1/8||ENST00000440771.5:c.-200C>T||136|||||rs469189||-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29553520G>A|||||||||0|2|1||,A|intron_variant&NMD_transcript_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||1/22|ENST00000442555.5:c.-128+151C>T|||||||rs469189||-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29553520G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000475187|retained_intron||||||||||rs469189|4376|-1||HGNC|HGNC:19074|1||||||||Ensembl||G|G||||chr22:g.29553520G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||1/19|ENST00000490103.6:c.-12+151C>T|||||||rs469189||-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29553520G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||1/20|NM_001002877.2:c.-128+151C>T|||||||rs469189||-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29553520G>A|||||||||||||,A|5_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding|1/21||NM_001002878.1:c.-200C>T||136|||||rs469189||-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29553520G>A|||||||||0|2|1||,A|5_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding|1/20||NM_001002879.1:c.-84C>T||136|||||rs469189||-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29553520G>A|||||||||0|0|1||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs469189|1288|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29553520G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs469189|1288|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29553520G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||1/19|NM_003678.5:c.-12+151C>T|||||||rs469189||-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29553520G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||1/20|XM_005261797.2:c.-12+151C>T|||||||rs469189||-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29553520G>A|||||||||||||,A|intron_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||1/21|XM_005261798.2:c.-128+151C>T|||||||rs469189||-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29553520G>A|||||||||||||,A|5_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding|1/21||XM_005261799.2:c.-84C>T||136|||||rs469189||-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29553520G>A|||||||||0|0|1||,A|5_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding|1/22||XM_006724347.2:c.-200C>T||136|||||rs469189||-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29553520G>A|||||||||0|2|1||,A|5_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding|1/22||XM_047441558.1:c.-192C>T||136|||||rs469189||-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29553520G>A|||||||||0|2|1||,A|5_prime_UTR_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding|1/21||XM_047441559.1:c.-192C>T||136|||||rs469189||-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29553520G>A|||||||||0|2|1||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7TCM|enhancer||||||||||rs469189|||||||||||||||||||||chr22:g.29553520G>A|||||||||||||;SpliceAI=A|THOC5|0.00|0.00|0.00|0.00|11|-37|2|-25;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000358079,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000475187,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1,ENSR22_B7TCM;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563,.;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,.;VEP_existing_InFrame_oORFs=.,.,0,0,.,.,.,0,0,.,.,.,.,0,0,.,.,.,.,.,0,0,0,0,.;VEP_existing_OutOfFrame_oORFs=.,.,0,2,.,.,.,0,2,.,.,.,.,2,0,.,.,.,.,.,0,2,2,2,.;VEP_existing_uORFs=.,.,1,1,.,.,.,1,1,.,.,.,.,1,1,.,.,.,.,.,1,1,1,1,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22373;gnomADv4_1_AC_joint_XX=11379;gnomADv4_1_AC_joint_XY=10994;gnomADv4_1_AF_grpmax_joint=0.168152;gnomADv4_1_AF_joint=0.14661;gnomADv4_1_AF_joint_XX=0.146038;gnomADv4_1_AF_joint_XY=0.147207;gnomADv4_1_AN_grpmax_joint=41522;gnomADv4_1_AN_joint=152602;gnomADv4_1_AN_joint_XX=77918;gnomADv4_1_AN_joint_XY=74684;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1702;gnomADv4_1_nhomalt_joint_XX=866;gnomADv4_1_nhomalt_joint_XY=836;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29555661 chr22_29555661_A_T A T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.501;CADD_Rawscore=0.320826;CSQ=T|3_prime_UTR_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding|10/10||ENST00000216121.12:c.*274T>A||1160|||||rs7609||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||||||||||rs7609|2006|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||||||||||rs7609|2006|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||||||||||rs7609|1895|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs7609|1920|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs7609|445|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs7609|1981|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs7609|2006|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||||||||||rs7609|1407|-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||||||||||rs7609|1904|-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||||||||||rs7609|1904|-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||||||||||rs7609|2006|-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||||||||||rs7609|2006|-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29555661A>T|||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding|10/10||NM_001202502.2:c.*274T>A||1100|||||rs7609||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29555661A>T|||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding|10/10||NM_003634.4:c.*274T>A||1160|||||rs7609||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||||||||||rs7609|1904|-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||||||||||rs7609|1904|-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||||||||||rs7609|1904|-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||||||||||rs7609|2006|-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||||||||||rs7609|2006|-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||||||||||rs7609|2006|-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29555661A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||||||||||rs7609|2006|-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29555661A>T|||1||||||||||;SpliceAI=T|NIPSNAP1|0.00|0.00|0.00|0.00|-2|-27|3|13;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000440771,ENST00000442555,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=348903;gnomADv4_1_AC_joint_XX=168038;gnomADv4_1_AC_joint_XY=180865;gnomADv4_1_AF_grpmax_joint=0.851179;gnomADv4_1_AF_joint=0.766453;gnomADv4_1_AF_joint_XX=0.764622;gnomADv4_1_AF_joint_XY=0.768161;gnomADv4_1_AN_grpmax_joint=50450;gnomADv4_1_AN_joint=455218;gnomADv4_1_AN_joint_XX=219766;gnomADv4_1_AN_joint_XY=235452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=135680;gnomADv4_1_nhomalt_joint_XX=65182;gnomADv4_1_nhomalt_joint_XY=70498;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29556027 chr22_29556027_CAG_C CAG C 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=4.39;CADDIndel_Rawscore=0.400013;CSQ=-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||9/9|ENST00000216121.12:c.791-30_791-29del|||||||rs148052790||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||||||||||rs148052790|2373|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||||||||||rs148052790|2373|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||||||||||rs148052790|2262|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs148052790|2287|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs148052790|812|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs148052790|2348|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs148052790|4779|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs148052790|2373|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||||||||||rs148052790|1774|-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||||||||||rs148052790|2271|-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||||||||||rs148052790|2271|-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||||||||||rs148052790|2373|-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||AG|AG|OK|||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||||||||||rs148052790|2373|-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||AG|AG|OK|||chr22:g.29556028_29556029del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||9/9|NM_001202502.2:c.731-30_731-29del|||||||rs148052790||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||9/9|NM_003634.4:c.791-30_791-29del|||||||rs148052790||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||||||||||rs148052790|2271|-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||||||||||rs148052790|2271|-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||||||||||rs148052790|2271|-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||||||||||rs148052790|2373|-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||||||||||rs148052790|2373|-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||||||||||rs148052790|2373|-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||AG|AG||||chr22:g.29556028_29556029del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||||||||||rs148052790|2373|-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||AG|AG||||chr22:g.29556028_29556029del|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|-1|-28|44|46;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216121,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000418021,ENST00000428374,ENST00000437094,ENST00000440771,ENST00000442555,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=403973;gnomADv4_1_AC_joint_XX=208845;gnomADv4_1_AC_joint_XY=195128;gnomADv4_1_AF_grpmax_joint=0.282986;gnomADv4_1_AF_joint=0.260786;gnomADv4_1_AF_joint_XX=0.26584;gnomADv4_1_AF_joint_XY=0.255586;gnomADv4_1_AN_grpmax_joint=1144908;gnomADv4_1_AN_joint=1549058;gnomADv4_1_AN_joint_XX=785604;gnomADv4_1_AN_joint_XY=763454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=54675;gnomADv4_1_nhomalt_joint_XX=28470;gnomADv4_1_nhomalt_joint_XY=26205;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29556192 chr22_29556192_C_G C G 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.913;CADD_Rawscore=0.152097;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||9/9|ENST00000216121.12:c.791-193G>C|||||||rs469363||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||||||||||rs469363|2537|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||||||||||rs469363|2537|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||||||||||rs469363|2426|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs469363|2451|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||C|C||||chr22:g.29556192C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs469363|4978|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs469363|976|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs469363|2512|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||C|C||||chr22:g.29556192C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs469363|4616|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs469363|2537|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||||||||||rs469363|1938|-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||||||||||rs469363|2435|-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||||||||||rs469363|2435|-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||||||||||rs469363|2537|-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||||||||||rs469363|2537|-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29556192C>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||9/9|NM_001202502.2:c.731-193G>C|||||||rs469363||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29556192C>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||9/9|NM_003634.4:c.791-193G>C|||||||rs469363||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||||||||||rs469363|2435|-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||||||||||rs469363|2435|-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||||||||||rs469363|2435|-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||||||||||rs469363|2537|-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||||||||||rs469363|2537|-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||||||||||rs469363|2537|-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29556192C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||||||||||rs469363|2537|-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29556192C>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|-25|-1|32|1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000415100,ENST00000418021,ENST00000428374,ENST00000437094,ENST00000440771,ENST00000442555,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,THOC5,THOC5,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=120495;gnomADv4_1_AC_joint_XX=61551;gnomADv4_1_AC_joint_XY=58944;gnomADv4_1_AF_grpmax_joint=0.868077;gnomADv4_1_AF_joint=0.792689;gnomADv4_1_AF_joint_XX=0.792121;gnomADv4_1_AF_joint_XY=0.793282;gnomADv4_1_AN_grpmax_joint=41456;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=48172;gnomADv4_1_nhomalt_joint_XX=24581;gnomADv4_1_nhomalt_joint_XY=23591;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29556237 chr22_29556237_T_C T C 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=12.05;CADD_Rawscore=1.18039;CSQ=C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||9/9|ENST00000216121.12:c.791-238A>G|||||||rs468217||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||||||||||rs468217|2582|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||||||||||rs468217|2582|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||||||||||rs468217|2471|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs468217|2496|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||T|T||||chr22:g.29556237T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs468217|4933|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs468217|1021|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs468217|2557|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||T|T||||chr22:g.29556237T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs468217|4571|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs468217|2582|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||||||||||rs468217|1983|-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||||||||||rs468217|2480|-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||||||||||rs468217|2480|-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||||||||||rs468217|2582|-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||T|T|OK|||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||||||||||rs468217|2582|-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||T|T|OK|||chr22:g.29556237T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||9/9|NM_001202502.2:c.731-238A>G|||||||rs468217||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29556237T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||9/9|NM_003634.4:c.791-238A>G|||||||rs468217||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||||||||||rs468217|2480|-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||||||||||rs468217|2480|-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||||||||||rs468217|2480|-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||||||||||rs468217|2582|-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||||||||||rs468217|2582|-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||||||||||rs468217|2582|-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||T|T||||chr22:g.29556237T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||||||||||rs468217|2582|-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||T|T||||chr22:g.29556237T>C|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.25|0.00|1|-11|1|-13;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216121,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000415100,ENST00000418021,ENST00000428374,ENST00000437094,ENST00000440771,ENST00000442555,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,THOC5,THOC5,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=79630;gnomADv4_1_AC_joint_XX=40166;gnomADv4_1_AC_joint_XY=39464;gnomADv4_1_AF_grpmax_joint=0.68763;gnomADv4_1_AF_joint=0.52404;gnomADv4_1_AF_joint_XX=0.517083;gnomADv4_1_AF_joint_XY=0.531316;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=151954;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=21008;gnomADv4_1_nhomalt_joint_XX=10425;gnomADv4_1_nhomalt_joint_XY=10583;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29556448 chr22_29556448_C_T C T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.67;CADD_Rawscore=0.11636;CSQ=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||9/9|ENST00000216121.12:c.791-449G>A|||||||rs469565||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||||||||||rs469565|2793|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||||||||||rs469565|2793|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||||||||||rs469565|2682|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs469565|2707|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||C|C||||chr22:g.29556448C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs469565|4722|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs469565|1232|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs469565|2768|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||C|C||||chr22:g.29556448C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs469565|4360|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs469565|2793|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||||||||||rs469565|2194|-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||||||||||rs469565|2691|-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||||||||||rs469565|2691|-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||||||||||rs469565|2793|-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||C|C|OK|||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||||||||||rs469565|2793|-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||C|C|OK|||chr22:g.29556448C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||9/9|NM_001202502.2:c.731-449G>A|||||||rs469565||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29556448C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||9/9|NM_003634.4:c.791-449G>A|||||||rs469565||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||||||||||rs469565|2691|-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||||||||||rs469565|2691|-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||||||||||rs469565|2691|-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||||||||||rs469565|2793|-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||||||||||rs469565|2793|-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||||||||||rs469565|2793|-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||C|C||||chr22:g.29556448C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||||||||||rs469565|2793|-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||C|C||||chr22:g.29556448C>T|||||||||||||;SpliceAI=T|NIPSNAP1|0.00|0.00|0.04|0.00|-2|48|-1|-49;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000415100,ENST00000418021,ENST00000428374,ENST00000437094,ENST00000440771,ENST00000442555,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,THOC5,THOC5,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=120234;gnomADv4_1_AC_joint_XX=61428;gnomADv4_1_AC_joint_XY=58806;gnomADv4_1_AF_grpmax_joint=0.867997;gnomADv4_1_AF_joint=0.792902;gnomADv4_1_AF_joint_XX=0.79219;gnomADv4_1_AF_joint_XY=0.793646;gnomADv4_1_AN_grpmax_joint=41408;gnomADv4_1_AN_joint=151638;gnomADv4_1_AN_joint_XX=77542;gnomADv4_1_AN_joint_XY=74096;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=48068;gnomADv4_1_nhomalt_joint_XX=24527;gnomADv4_1_nhomalt_joint_XY=23541;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29557816 chr22_29557816_A_G A G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=4.004;CADD_Rawscore=0.365603;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||9/9|ENST00000216121.12:c.790+1054T>C|||||||rs469253||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||||||||||rs469253|4161|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||||||||||rs469253|4161|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||||||||||rs469253|4050|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs469253|4075|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||A|A||||chr22:g.29557816A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs469253|3354|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs469253|2600|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs469253|4136|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||A|A||||chr22:g.29557816A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs469253|2992|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs469253|4161|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||||||||||rs469253|3562|-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||A|A||||chr22:g.29557816A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs469253|3814|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||||||||||rs469253|4059|-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||||||||||rs469253|4059|-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||||||||||rs469253|4161|-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||A|A|OK|||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||||||||||rs469253|4161|-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||A|A|OK|||chr22:g.29557816A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||9/9|NM_001202502.2:c.730+1054T>C|||||||rs469253||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29557816A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||9/9|NM_003634.4:c.790+1054T>C|||||||rs469253||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||||||||||rs469253|4059|-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||||||||||rs469253|4059|-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||||||||||rs469253|4059|-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||||||||||rs469253|4161|-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||||||||||rs469253|4161|-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||||||||||rs469253|4161|-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||A|A||||chr22:g.29557816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||||||||||rs469253|4161|-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||A|A||||chr22:g.29557816A>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|-21|3|-23|0;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000415100,ENST00000418021,ENST00000428374,ENST00000437094,ENST00000440771,ENST00000442555,ENST00000455496,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000184117,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,THOC5,THOC5,NIPSNAP1,THOC5,THOC5,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31540;gnomADv4_1_AC_joint_XX=16168;gnomADv4_1_AC_joint_XY=15372;gnomADv4_1_AF_grpmax_joint=0.544747;gnomADv4_1_AF_joint=0.2075;gnomADv4_1_AF_joint_XX=0.208023;gnomADv4_1_AF_joint_XY=0.206952;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=152000;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3689;gnomADv4_1_nhomalt_joint_XX=1886;gnomADv4_1_nhomalt_joint_XY=1803;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29558604 chr22_29558604_G_A G A 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.465;CADD_Rawscore=-0.211372;CSQ=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||9/9|ENST00000216121.12:c.790+266C>T|||||||rs469230||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397871|protein_coding||||||||||rs469230|4949|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380969|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397872|protein_coding||||||||||rs469230|4949|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380970|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000397873|protein_coding||||||||||rs469230|4838|-1||HGNC|HGNC:19074|5|CCDS13859.1|ENSP00000380971|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000414902|nonsense_mediated_decay||||||||||rs469230|4863|-1||HGNC|HGNC:19074|5||ENSP00000393420||F8WES8.55|UPI0000E06DA1|||Ensembl||G|G||||chr22:g.29558604G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs469230|2566|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs469230|3388|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000428374|protein_coding||||||||||rs469230|4924|-1|cds_end_NF|HGNC|HGNC:19074|2||ENSP00000416804||C9JCL9.77|UPI000173A2FD|||Ensembl||G|G||||chr22:g.29558604G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs469230|2204|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000440771|protein_coding||||||||||rs469230|4949|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000413505||C9JXG5.78|UPI000173A2FF|||Ensembl||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||||||||||rs469230|4350|-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||G|G||||chr22:g.29558604G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs469230|3026|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000490103|protein_coding||||||||||rs469230|4847|-1||HGNC|HGNC:19074|1|CCDS13859.1|ENSP00000420306|Q13769.176||UPI000013FD77|||Ensembl||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002877.2|protein_coding||||||||||rs469230|4847|-1||EntrezGene|HGNC:19074|||NP_001002877.1||||||RefSeq||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002878.1|protein_coding||||||||||rs469230|4949|-1||EntrezGene|HGNC:19074|||NP_001002878.1||||||RefSeq||G|G|OK|||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_001002879.1|protein_coding||||||||||rs469230|4949|-1||EntrezGene|HGNC:19074|||NP_001002879.1||||||RefSeq||G|G|OK|||chr22:g.29558604G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||9/9|NM_001202502.2:c.730+266C>T|||||||rs469230||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29558604G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||9/9|NM_003634.4:c.790+266C>T|||||||rs469230||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|NM_003678.5|protein_coding||||||||||rs469230|4847|-1||EntrezGene|HGNC:19074|||NP_003669.4||||||RefSeq||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261797.2|protein_coding||||||||||rs469230|4847|-1||EntrezGene|HGNC:19074|||XP_005261854.1||||||RefSeq||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261798.2|protein_coding||||||||||rs469230|4847|-1||EntrezGene|HGNC:19074|||XP_005261855.1||||||RefSeq||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_005261799.2|protein_coding||||||||||rs469230|4949|-1||EntrezGene|HGNC:19074|||XP_005261856.1||||||RefSeq||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_006724347.2|protein_coding||||||||||rs469230|4949|-1||EntrezGene|HGNC:19074|||XP_006724410.1||||||RefSeq||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441558.1|protein_coding||||||||||rs469230|4949|-1||EntrezGene|HGNC:19074|||XP_047297514.1||||||RefSeq||G|G||||chr22:g.29558604G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|8563|Transcript|XM_047441559.1|protein_coding||||||||||rs469230|4949|-1||EntrezGene|HGNC:19074|||XP_047297515.1||||||RefSeq||G|G||||chr22:g.29558604G>A|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.00|0.00|-20|39|-20|-34;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000397871,ENST00000397872,ENST00000397873,ENST00000414902,ENST00000415100,ENST00000418021,ENST00000428374,ENST00000437094,ENST00000440771,ENST00000442555,ENST00000455496,ENST00000490103,NM_001002877.2,NM_001002878.1,NM_001002879.1,NM_001202502.2,NM_003634.4,NM_003678.5,XM_005261797.2,XM_005261798.2,XM_005261799.2,XM_006724347.2,XM_047441558.1,XM_047441559.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000100296,ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000184117,ENSG00000100296,ENSG00000100296,ENSG00000184117,ENSG00000100296,8563,8563,8563,8508,8508,8563,8563,8563,8563,8563,8563,8563;VEP_SYMBOL=NIPSNAP1,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,THOC5,THOC5,NIPSNAP1,THOC5,THOC5,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,NIPSNAP1,NIPSNAP1,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5,THOC5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=120569;gnomADv4_1_AC_joint_XX=61608;gnomADv4_1_AC_joint_XY=58961;gnomADv4_1_AF_grpmax_joint=0.868086;gnomADv4_1_AF_joint=0.792581;gnomADv4_1_AF_joint_XX=0.79208;gnomADv4_1_AF_joint_XY=0.793105;gnomADv4_1_AN_grpmax_joint=41512;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=48194;gnomADv4_1_nhomalt_joint_XX=24602;gnomADv4_1_nhomalt_joint_XY=23592;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29559247 chr22_29559247_GT_G GT G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=1.516;CADDIndel_Rawscore=0.090935;CSQ=-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||8/9|ENST00000216121.12:c.707-295del|||||||rs11308506||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29559249del|||||||||||||,-|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs11308506|1922|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29559249del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs11308506|4032|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||T|T||||chr22:g.29559249del|||||||||||||,-|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs11308506|1560|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29559249del|||||||||||||,-|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000442555|nonsense_mediated_decay||||||||||rs11308506|4994|-1||HGNC|HGNC:19074|2||ENSP00000416500||F8WCP5.61|UPI000173A2FB|||Ensembl||T|T||||chr22:g.29559249del|||||||||||||,-|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs11308506|2382|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29559249del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||8/9|NM_001202502.2:c.647-295del|||||||rs11308506||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29559249del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||8/9|NM_003634.4:c.707-295del|||||||rs11308506||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29559249del|||||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|33|-20|-23|-36;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000418021,ENST00000437094,ENST00000442555,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000100296,ENSG00000184117,ENSG00000100296,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,THOC5,NIPSNAP1,THOC5,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129829;gnomADv4_1_AC_joint_XX=66397;gnomADv4_1_AC_joint_XY=63432;gnomADv4_1_AF_grpmax_joint=0.958827;gnomADv4_1_AF_joint=0.853105;gnomADv4_1_AF_joint_XX=0.853564;gnomADv4_1_AF_joint_XY=0.852626;gnomADv4_1_AN_grpmax_joint=41532;gnomADv4_1_AN_joint=152184;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=56023;gnomADv4_1_nhomalt_joint_XX=28652;gnomADv4_1_nhomalt_joint_XY=27371;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29559263 chr22_29559263_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.07;CADD_Rawscore=0.17302;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||8/9|ENST00000216121.12:c.707-310T>C|||||||rs468224||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29559263A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs468224|1907|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29559263A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs468224|4047|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||A|A||||chr22:g.29559263A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs468224|1545|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29559263A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs468224|2367|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29559263A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||8/9|NM_001202502.2:c.647-310T>C|||||||rs468224||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29559263A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||8/9|NM_003634.4:c.707-310T>C|||||||rs468224||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29559263A>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|-44|-3|-10|-5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000418021,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000100296,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,THOC5,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=120606;gnomADv4_1_AC_joint_XX=61608;gnomADv4_1_AC_joint_XY=58998;gnomADv4_1_AF_grpmax_joint=0.868382;gnomADv4_1_AF_joint=0.792543;gnomADv4_1_AF_joint_XX=0.79208;gnomADv4_1_AF_joint_XY=0.793027;gnomADv4_1_AN_grpmax_joint=41514;gnomADv4_1_AN_joint=152176;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=48214;gnomADv4_1_nhomalt_joint_XX=24603;gnomADv4_1_nhomalt_joint_XY=23611;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29559444 chr22_29559444_C_T C T 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.112;CADD_Rawscore=-0.581585;CSQ=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||8/9|ENST00000216121.12:c.707-491G>A|||||||rs468221||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29559444C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs468221|1726|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29559444C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs468221|4228|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||C|C||||chr22:g.29559444C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs468221|1364|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29559444C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs468221|2186|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29559444C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||8/9|NM_001202502.2:c.647-491G>A|||||||rs468221||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29559444C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||8/9|NM_003634.4:c.707-491G>A|||||||rs468221||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29559444C>T|||||||||||||;SpliceAI=T|NIPSNAP1|0.00|0.00|0.00|0.00|-21|-33|8|-39;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000418021,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000100296,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,THOC5,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=79202;gnomADv4_1_AC_joint_XX=39964;gnomADv4_1_AC_joint_XY=39238;gnomADv4_1_AF_grpmax_joint=0.663202;gnomADv4_1_AF_joint=0.522317;gnomADv4_1_AF_joint_XX=0.515359;gnomADv4_1_AF_joint_XY=0.529599;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=151636;gnomADv4_1_AN_joint_XX=77546;gnomADv4_1_AN_joint_XY=74090;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=20835;gnomADv4_1_nhomalt_joint_XX=10336;gnomADv4_1_nhomalt_joint_XY=10499;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29559461 chr22_29559461_T_C T C 66 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=66;CADD_PHREDscore=0.313;CADD_Rawscore=-0.311182;CSQ=C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||8/9|ENST00000216121.12:c.707-508A>G|||||||rs468795||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29559461T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs468795|1709|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29559461T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs468795|4245|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||T|T||||chr22:g.29559461T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs468795|1347|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29559461T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs468795|2169|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29559461T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||8/9|NM_001202502.2:c.647-508A>G|||||||rs468795||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29559461T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||8/9|NM_003634.4:c.707-508A>G|||||||rs468795||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29559461T>C|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|48|-3|-49|-1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000418021,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000100296,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,THOC5,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129573;gnomADv4_1_AC_joint_XX=66292;gnomADv4_1_AC_joint_XY=63281;gnomADv4_1_AF_grpmax_joint=0.959244;gnomADv4_1_AF_joint=0.853318;gnomADv4_1_AF_joint_XX=0.853904;gnomADv4_1_AF_joint_XY=0.852706;gnomADv4_1_AN_grpmax_joint=41442;gnomADv4_1_AN_joint=151846;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74212;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=55918;gnomADv4_1_nhomalt_joint_XX=28612;gnomADv4_1_nhomalt_joint_XY=27306;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29559982 chr22_29559982_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=4.549;CADD_Rawscore=0.414353;CSQ=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||8/9|ENST00000216121.12:c.706+752C>T|||||||rs13056992||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29559982G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs13056992|1188|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29559982G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs13056992|4766|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29559982G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs13056992|826|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29559982G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs13056992|1648|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29559982G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||8/9|NM_001202502.2:c.646+752C>T|||||||rs13056992||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29559982G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||8/9|NM_003634.4:c.706+752C>T|||||||rs13056992||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29559982G>A|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.00|0.00|31|25|31|-29;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000418021,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000100296,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,THOC5,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36599;gnomADv4_1_AC_joint_XX=19155;gnomADv4_1_AC_joint_XY=17444;gnomADv4_1_AF_grpmax_joint=0.284112;gnomADv4_1_AF_joint=0.240945;gnomADv4_1_AF_joint_XX=0.246646;gnomADv4_1_AF_joint_XY=0.23498;gnomADv4_1_AN_grpmax_joint=67938;gnomADv4_1_AN_joint=151898;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74236;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4510;gnomADv4_1_nhomalt_joint_XX=2381;gnomADv4_1_nhomalt_joint_XY=2129;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29560146 chr22_29560146_G_C G C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=2.65;CADD_Rawscore=0.239587;CSQ=C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||8/9|ENST00000216121.12:c.706+588C>G|||||||rs467866||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29560146G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs467866|1024|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29560146G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs467866|4930|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||G|G||||chr22:g.29560146G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs467866|662|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29560146G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs467866|1484|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29560146G>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||8/9|NM_001202502.2:c.646+588C>G|||||||rs467866||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29560146G>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||8/9|NM_003634.4:c.706+588C>G|||||||rs467866||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29560146G>C|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|1|46|1|13;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000418021,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000100296,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,THOC5,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82972;gnomADv4_1_AC_joint_XX=41996;gnomADv4_1_AC_joint_XY=40976;gnomADv4_1_AF_grpmax_joint=0.66549;gnomADv4_1_AF_joint=0.546941;gnomADv4_1_AF_joint_XX=0.541172;gnomADv4_1_AF_joint_XY=0.552982;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=151702;gnomADv4_1_AN_joint_XX=77602;gnomADv4_1_AN_joint_XY=74100;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=23182;gnomADv4_1_nhomalt_joint_XX=11582;gnomADv4_1_nhomalt_joint_XY=11600;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29560148 chr22_29560148_T_C T C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=5.974;CADD_Rawscore=0.550575;CSQ=C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||8/9|ENST00000216121.12:c.706+586A>G|||||||rs468851||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29560148T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs468851|1022|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29560148T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs468851|4932|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||T|T||||chr22:g.29560148T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs468851|660|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29560148T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs468851|1482|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29560148T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||8/9|NM_001202502.2:c.646+586A>G|||||||rs468851||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29560148T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||8/9|NM_003634.4:c.706+586A>G|||||||rs468851||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29560148T>C|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|-38|44|11|18;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000418021,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000100296,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,THOC5,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82963;gnomADv4_1_AC_joint_XX=41990;gnomADv4_1_AC_joint_XY=40973;gnomADv4_1_AF_grpmax_joint=0.66549;gnomADv4_1_AF_joint=0.54668;gnomADv4_1_AF_joint_XX=0.540997;gnomADv4_1_AF_joint_XY=0.552629;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=151758;gnomADv4_1_AN_joint_XX=77616;gnomADv4_1_AN_joint_XY=74142;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=23179;gnomADv4_1_nhomalt_joint_XX=11579;gnomADv4_1_nhomalt_joint_XY=11600;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29560167 chr22_29560167_T_C T C 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=2.093;CADD_Rawscore=0.176015;CSQ=C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||8/9|ENST00000216121.12:c.706+567A>G|||||||rs468852||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29560167T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs468852|1003|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29560167T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|THOC5|ENSG00000100296|Transcript|ENST00000418021|protein_coding||||||||||rs468852|4951|-1|cds_end_NF|HGNC|HGNC:19074|3||ENSP00000388039||C9JXU6.75|UPI000173A2FE|||Ensembl||T|T||||chr22:g.29560167T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs468852|641|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29560167T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs468852|1463|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29560167T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||8/9|NM_001202502.2:c.646+567A>G|||||||rs468852||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29560167T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||8/9|NM_003634.4:c.706+567A>G|||||||rs468852||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29560167T>C|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|26|25|26|-8;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000418021,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000100296,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,THOC5,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129256;gnomADv4_1_AC_joint_XX=66166;gnomADv4_1_AC_joint_XY=63090;gnomADv4_1_AF_grpmax_joint=0.957929;gnomADv4_1_AF_joint=0.851421;gnomADv4_1_AF_joint_XX=0.851952;gnomADv4_1_AF_joint_XY=0.850866;gnomADv4_1_AN_grpmax_joint=41406;gnomADv4_1_AN_joint=151812;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74148;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=55734;gnomADv4_1_nhomalt_joint_XX=28534;gnomADv4_1_nhomalt_joint_XY=27200;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29560241 chr22_29560241_C_CT C CT 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=1.576;CADDIndel_Rawscore=0.101041;CSQ=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||8/9|ENST00000216121.12:c.706+492dup|||||||rs35947318||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl|||||||chr22:g.29560253dup|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs35947318|928|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl|||||||chr22:g.29560253dup|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs35947318|566|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl|||||||chr22:g.29560253dup|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs35947318|1388|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl|||||||chr22:g.29560253dup|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||8/9|NM_001202502.2:c.646+492dup|||||||rs35947318||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq|||||||chr22:g.29560253dup|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||8/9|NM_003634.4:c.706+492dup|||||||rs35947318||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq|||||||chr22:g.29560253dup|||||||||||||;SpliceAI=CT|NIPSNAP1|0.00|0.00|0.00|0.00|-49|-5|-48|-16;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=73487;gnomADv4_1_AC_joint_XX=37710;gnomADv4_1_AC_joint_XY=35777;gnomADv4_1_AF_grpmax_joint=0.660026;gnomADv4_1_AF_joint=0.50636;gnomADv4_1_AF_joint_XX=0.502948;gnomADv4_1_AF_joint_XY=0.510007;gnomADv4_1_AN_grpmax_joint=4618;gnomADv4_1_AN_joint=145128;gnomADv4_1_AN_joint_XX=74978;gnomADv4_1_AN_joint_XY=70150;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=18464;gnomADv4_1_nhomalt_joint_XX=9383;gnomADv4_1_nhomalt_joint_XY=9081;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29561024 chr22_29561024_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.367;CADD_Rawscore=0.063746;CSQ=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||7/9|ENST00000216121.12:c.611+147G>A|||||||rs468692||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29561024C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs468692|146|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29561024C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||7/7|ENST00000437094.5:c.206+147G>A|||||||rs468692||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29561024C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs468692|606|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29561024C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||7/9|NM_001202502.2:c.551+147G>A|||||||rs468692||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29561024C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||7/9|NM_003634.4:c.611+147G>A|||||||rs468692||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29561024C>T|||||||||||||;SpliceAI=T|NIPSNAP1|0.01|0.00|0.08|0.00|9|-1|-7|-43;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=690023;gnomADv4_1_AC_joint_XX=331354;gnomADv4_1_AC_joint_XY=358669;gnomADv4_1_AF_grpmax_joint=0.879717;gnomADv4_1_AF_joint=0.764963;gnomADv4_1_AF_joint_XX=0.764415;gnomADv4_1_AF_joint_XY=0.765471;gnomADv4_1_AN_grpmax_joint=60790;gnomADv4_1_AN_joint=902034;gnomADv4_1_AN_joint_XX=433474;gnomADv4_1_AN_joint_XY=468560;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=267297;gnomADv4_1_nhomalt_joint_XX=128295;gnomADv4_1_nhomalt_joint_XY=139002;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29561332 chr22_29561332_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.863;CADD_Rawscore=-0.055617;CSQ=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||6/9|ENST00000216121.12:c.580-130C>T|||||||rs6361||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29561332G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||7/7|ENST00000415100.5:c.629-130C>T|||||||rs6361||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29561332G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||6/7|ENST00000437094.5:c.175-130C>T|||||||rs6361||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29561332G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs6361|298|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29561332G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||6/9|NM_001202502.2:c.520-130C>T|||||||rs6361||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29561332G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||6/9|NM_003634.4:c.580-130C>T|||||||rs6361||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29561332G>A|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.01|0.00|-26|17|18|-33;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=735376;gnomADv4_1_AC_joint_XX=361987;gnomADv4_1_AC_joint_XY=373389;gnomADv4_1_AF_grpmax_joint=0.679903;gnomADv4_1_AF_joint=0.50994;gnomADv4_1_AF_joint_XX=0.504038;gnomADv4_1_AF_joint_XY=0.515795;gnomADv4_1_AN_grpmax_joint=87764;gnomADv4_1_AN_joint=1442084;gnomADv4_1_AN_joint_XX=718174;gnomADv4_1_AN_joint_XY=723910;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=192030;gnomADv4_1_nhomalt_joint_XX=93188;gnomADv4_1_nhomalt_joint_XY=98842;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29561581 chr22_29561581_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=3.476;CADD_Rawscore=0.318583;CSQ=A|synonymous_variant|LOW|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding|6/10||ENST00000216121.12%3Ac.504C>T|ENSP00000216121.7%3Ap.Leu168%3D|535|504|168|L|ctC/ctT|rs1058642||-1||HGNC|HGNC%3A7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22%3Ag.29561581G>A|||||||||||||,A|synonymous_variant|LOW|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding|7/8||ENST00000415100.5%3Ac.555C>T|ENSP00000407851.1%3Ap.Leu185%3D|553|555|185|L|ctC/ctT|rs1058642||-1|cds_start_NF&cds_end_NF|HGNC|HGNC%3A7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22%3Ag.29561581G>A|||||||||||||,A|synonymous_variant|LOW|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding|6/8||ENST00000437094.5%3Ac.99C>T|ENSP00000403448.2%3Ap.Leu33%3D|546|99|33|L|ctC/ctT|rs1058642||-1|cds_end_NF|HGNC|HGNC%3A7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22%3Ag.29561581G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs1058642|49|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29561581G>A|||||||||||||,A|synonymous_variant|LOW|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding|6/10||NM_001202502.2%3Ac.444C>T|NP_001189431.1%3Ap.Leu148%3D|475|444|148|L|ctC/ctT|rs1058642||-1||EntrezGene|HGNC%3A7827|||NP_001189431.1||||||RefSeq||G|G||||chr22%3Ag.29561581G>A|||||||||||||,A|synonymous_variant|LOW|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding|6/10||NM_003634.4%3Ac.504C>T|NP_003625.2%3Ap.Leu168%3D|535|504|168|L|ctC/ctT|rs1058642||-1||EntrezGene|HGNC%3A7827|||NP_003625.2||||||RefSeq||G|G||||chr22%3Ag.29561581G>A|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.00|0.00|45|18|-33|-19;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=418002;gnomADv4_1_AC_joint_XX=214509;gnomADv4_1_AC_joint_XY=203493;gnomADv4_1_AF_grpmax_joint=0.283406;gnomADv4_1_AF_joint=0.259033;gnomADv4_1_AF_joint_XX=0.2641;gnomADv4_1_AF_joint_XY=0.253897;gnomADv4_1_AN_grpmax_joint=1179882;gnomADv4_1_AN_joint=1613704;gnomADv4_1_AN_joint_XX=812226;gnomADv4_1_AN_joint_XY=801478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=56390;gnomADv4_1_nhomalt_joint_XX=29167;gnomADv4_1_nhomalt_joint_XY=27223;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29561922 chr22_29561922_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.396;CADD_Rawscore=0.069318;CSQ=C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.368-60A>G|||||||rs469295||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29561922T>C|||1||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.417-60A>G|||||||rs469295||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29561922T>C|||1||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-38-60A>G|||||||rs469295||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29561922T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||5/6|ENST00000455496.1:c.*115-60A>G|||||||rs469295||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29561922T>C|||1||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.308-60A>G|||||||rs469295||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29561922T>C|||1||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.368-60A>G|||||||rs469295||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29561922T>C|||1||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|-5|49|50|49;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=1184961;gnomADv4_1_AC_joint_XX=593272;gnomADv4_1_AC_joint_XY=591689;gnomADv4_1_AF_grpmax_joint=0.878521;gnomADv4_1_AF_joint=0.767385;gnomADv4_1_AF_joint_XX=0.766723;gnomADv4_1_AF_joint_XY=0.76805;gnomADv4_1_AN_grpmax_joint=73568;gnomADv4_1_AN_joint=1544154;gnomADv4_1_AN_joint_XX=773776;gnomADv4_1_AN_joint_XY=770378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=458566;gnomADv4_1_nhomalt_joint_XX=229440;gnomADv4_1_nhomalt_joint_XY=229126;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29561955 chr22_29561955_C_T C T 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.067;CADD_Rawscore=-0.718047;CSQ=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.368-93G>A|||||||rs468986||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29561955C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.417-93G>A|||||||rs468986||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29561955C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-38-93G>A|||||||rs468986||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29561955C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||5/6|ENST00000455496.1:c.*115-93G>A|||||||rs468986||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29561955C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.308-93G>A|||||||rs468986||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29561955C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.368-93G>A|||||||rs468986||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29561955C>T|||||||||||||;SpliceAI=T|NIPSNAP1|0.00|0.00|0.00|0.00|-24|16|1|16;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=571162;gnomADv4_1_AC_joint_XX=275349;gnomADv4_1_AC_joint_XY=295813;gnomADv4_1_AF_grpmax_joint=0.679936;gnomADv4_1_AF_joint=0.50487;gnomADv4_1_AF_joint_XX=0.497201;gnomADv4_1_AF_joint_XY=0.512225;gnomADv4_1_AN_grpmax_joint=79784;gnomADv4_1_AN_joint=1131304;gnomADv4_1_AN_joint_XX=553798;gnomADv4_1_AN_joint_XY=577506;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=148216;gnomADv4_1_nhomalt_joint_XX=70175;gnomADv4_1_nhomalt_joint_XY=78041;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29562347 chr22_29562347_T_TACCTCATGTGTTGAGGTGGCAAGGACATCCAGAGATGCTAATTTATGCATC T TACCTCATGTGTTGAGGTGGCAAGGACATCCAGAGATGCTAATTTATGCATC 29 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=29;CSQ=ACCTCATGTGTTGAGGTGGCAAGGACATCCAGAGATGCTAATTTATGCATC|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.368-536_368-486dup|||||||rs2064341551||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl|||||||chr22:g.29562348_29562398dup|||||||||||||,ACCTCATGTGTTGAGGTGGCAAGGACATCCAGAGATGCTAATTTATGCATC|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.417-536_417-486dup|||||||rs2064341551||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl|||||||chr22:g.29562348_29562398dup|||||||||||||,ACCTCATGTGTTGAGGTGGCAAGGACATCCAGAGATGCTAATTTATGCATC|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-38-536_-38-486dup|||||||rs2064341551||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl|||||||chr22:g.29562348_29562398dup|||||||||||||,ACCTCATGTGTTGAGGTGGCAAGGACATCCAGAGATGCTAATTTATGCATC|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||5/6|ENST00000455496.1:c.*115-536_*115-486dup|||||||rs2064341551||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl|||||||chr22:g.29562348_29562398dup|||||||||||||,ACCTCATGTGTTGAGGTGGCAAGGACATCCAGAGATGCTAATTTATGCATC|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.308-536_308-486dup|||||||rs2064341551||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq|||||||chr22:g.29562348_29562398dup|||||||||||||,ACCTCATGTGTTGAGGTGGCAAGGACATCCAGAGATGCTAATTTATGCATC|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.368-536_368-486dup|||||||rs2064341551||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq|||||||chr22:g.29562348_29562398dup|||||||||||||;TYPE=INDEL;VEP_Allele=ACCTCATGTGTTGAGGTGGCAAGGACATCCAGAGATGCTAATTTATGCATC,ACCTCATGTGTTGAGGTGGCAAGGACATCCAGAGATGCTAATTTATGCATC,ACCTCATGTGTTGAGGTGGCAAGGACATCCAGAGATGCTAATTTATGCATC,ACCTCATGTGTTGAGGTGGCAAGGACATCCAGAGATGCTAATTTATGCATC,ACCTCATGTGTTGAGGTGGCAAGGACATCCAGAGATGCTAATTTATGCATC,ACCTCATGTGTTGAGGTGGCAAGGACATCCAGAGATGCTAATTTATGCATC;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=6;gnomADv4_1_AC_joint_XX=4;gnomADv4_1_AC_joint_XY=2;gnomADv4_1_AF_grpmax_joint=0.000414938;gnomADv4_1_AF_joint=3.93959e-05;gnomADv4_1_AF_joint_XX=5.1406e-05;gnomADv4_1_AF_joint_XY=2.685e-05;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152300;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=74488;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29562645 chr22_29562645_T_C T C 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.431;CADD_Rawscore=-0.230618;CSQ=C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.368-783A>G|||||||rs468475||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29562645T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.417-783A>G|||||||rs468475||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29562645T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-38-783A>G|||||||rs468475||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29562645T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||5/6|ENST00000455496.1:c.*115-783A>G|||||||rs468475||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29562645T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.308-783A>G|||||||rs468475||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29562645T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.368-783A>G|||||||rs468475||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29562645T>C|||||||||||||;SpliceAI=C|NIPSNAP1|0.02|0.00|0.00|0.00|18|-2|-31|-5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=120137;gnomADv4_1_AC_joint_XX=61421;gnomADv4_1_AC_joint_XY=58716;gnomADv4_1_AF_grpmax_joint=0.880832;gnomADv4_1_AF_joint=0.791604;gnomADv4_1_AF_joint_XX=0.791467;gnomADv4_1_AF_joint_XY=0.791748;gnomADv4_1_AN_grpmax_joint=41454;gnomADv4_1_AN_joint=151764;gnomADv4_1_AN_joint_XX=77604;gnomADv4_1_AN_joint_XY=74160;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=48063;gnomADv4_1_nhomalt_joint_XX=24560;gnomADv4_1_nhomalt_joint_XY=23503;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29563098 chr22_29563098_TA_T TA T 47 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.229;CADDIndel_Rawscore=-0.391548;CSQ=-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.368-1237del|||||||rs695281||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29563116del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.417-1237del|||||||rs695281||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29563116del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-38-1237del|||||||rs695281||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29563116del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||5/6|ENST00000455496.1:c.*114+1139del|||||||rs695281||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29563116del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.308-1237del|||||||rs695281||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29563116del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.368-1237del|||||||rs695281||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29563116del|||||||||||||;SpliceAI=T|NIPSNAP1|0.00|0.00|0.00|0.00|-27|-3|4|43;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=51077;gnomADv4_1_AC_joint_XX=27100;gnomADv4_1_AC_joint_XY=23977;gnomADv4_1_AF_grpmax_joint=0.703524;gnomADv4_1_AF_joint=0.389253;gnomADv4_1_AF_joint_XX=0.39621;gnomADv4_1_AF_joint_XY=0.381678;gnomADv4_1_AN_grpmax_joint=4540;gnomADv4_1_AN_joint=131218;gnomADv4_1_AN_joint_XX=68398;gnomADv4_1_AN_joint_XY=62820;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9862;gnomADv4_1_nhomalt_joint_XX=5360;gnomADv4_1_nhomalt_joint_XY=4502;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29563159 chr22_29563159_G_A G A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.016;CADD_Rawscore=-1.13177;CSQ=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.368-1297C>T|||||||rs867088||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29563159G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.417-1297C>T|||||||rs867088||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29563159G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-38-1297C>T|||||||rs867088||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29563159G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||5/6|ENST00000455496.1:c.*114+1079C>T|||||||rs867088||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29563159G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.308-1297C>T|||||||rs867088||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29563159G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.368-1297C>T|||||||rs867088||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29563159G>A|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.00|0.00|-17|-19|30|-18;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=36460;gnomADv4_1_AC_joint_XX=19124;gnomADv4_1_AC_joint_XY=17336;gnomADv4_1_AF_grpmax_joint=0.284193;gnomADv4_1_AF_joint=0.24072;gnomADv4_1_AF_joint_XX=0.246704;gnomADv4_1_AF_joint_XY=0.234448;gnomADv4_1_AN_grpmax_joint=67894;gnomADv4_1_AN_joint=151462;gnomADv4_1_AN_joint_XX=77518;gnomADv4_1_AN_joint_XY=73944;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4502;gnomADv4_1_nhomalt_joint_XX=2385;gnomADv4_1_nhomalt_joint_XY=2117;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29563311 chr22_29563311_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.179;CADD_Rawscore=0.024936;CSQ=C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.368-1449A>G|||||||rs456585||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29563311T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.417-1449A>G|||||||rs456585||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29563311T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-38-1449A>G|||||||rs456585||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29563311T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||5/6|ENST00000455496.1:c.*114+927A>G|||||||rs456585||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29563311T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.308-1449A>G|||||||rs456585||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29563311T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.368-1449A>G|||||||rs456585||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29563311T>C|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|0|49|1|31;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=129412;gnomADv4_1_AC_joint_XX=66220;gnomADv4_1_AC_joint_XY=63192;gnomADv4_1_AF_grpmax_joint=0.958591;gnomADv4_1_AF_joint=0.85209;gnomADv4_1_AF_joint_XX=0.852581;gnomADv4_1_AF_joint_XY=0.851575;gnomADv4_1_AN_grpmax_joint=41464;gnomADv4_1_AN_joint=151876;gnomADv4_1_AN_joint_XX=77670;gnomADv4_1_AN_joint_XY=74206;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=55835;gnomADv4_1_nhomalt_joint_XX=28575;gnomADv4_1_nhomalt_joint_XY=27260;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29563346 chr22_29563346_T_A T A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.404;CADD_Rawscore=0.070824;CSQ=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.368-1484A>T|||||||rs465742||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29563346T>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.417-1484A>T|||||||rs465742||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29563346T>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-38-1484A>T|||||||rs465742||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29563346T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||5/6|ENST00000455496.1:c.*114+892A>T|||||||rs465742||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29563346T>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.308-1484A>T|||||||rs465742||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29563346T>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.368-1484A>T|||||||rs465742||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29563346T>A|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.00|0.00|-10|16|27|-4;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=132984;gnomADv4_1_AC_joint_XX=67784;gnomADv4_1_AC_joint_XY=65200;gnomADv4_1_AF_grpmax_joint=0.963705;gnomADv4_1_AF_joint=0.875967;gnomADv4_1_AF_joint_XX=0.872898;gnomADv4_1_AF_joint_XY=0.87918;gnomADv4_1_AN_grpmax_joint=41438;gnomADv4_1_AN_joint=151814;gnomADv4_1_AN_joint_XX=77654;gnomADv4_1_AN_joint_XY=74160;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=58483;gnomADv4_1_nhomalt_joint_XX=29723;gnomADv4_1_nhomalt_joint_XY=28760;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29563482 chr22_29563482_G_A G A 54 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.849;CADD_Rawscore=-0.059901;CSQ=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.368-1620C>T|||||||rs9613956||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29563482G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.417-1620C>T|||||||rs9613956||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29563482G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-38-1620C>T|||||||rs9613956||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29563482G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||5/6|ENST00000455496.1:c.*114+756C>T|||||||rs9613956||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29563482G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.308-1620C>T|||||||rs9613956||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29563482G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.368-1620C>T|||||||rs9613956||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29563482G>A|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.00|0.00|-33|17|-33|-32;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=36305;gnomADv4_1_AC_joint_XX=19031;gnomADv4_1_AC_joint_XY=17274;gnomADv4_1_AF_grpmax_joint=0.284123;gnomADv4_1_AF_joint=0.240135;gnomADv4_1_AF_joint_XX=0.246133;gnomADv4_1_AF_joint_XY=0.233856;gnomADv4_1_AN_grpmax_joint=67696;gnomADv4_1_AN_joint=151186;gnomADv4_1_AN_joint_XX=77320;gnomADv4_1_AN_joint_XY=73866;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4410;gnomADv4_1_nhomalt_joint_XX=2336;gnomADv4_1_nhomalt_joint_XY=2074;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29563501 chr22_29563501_T_C T C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=3.641;CADD_Rawscore=0.333316;CSQ=C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.368-1639A>G|||||||rs9613957||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29563501T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.417-1639A>G|||||||rs9613957||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29563501T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-38-1639A>G|||||||rs9613957||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29563501T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||5/6|ENST00000455496.1:c.*114+737A>G|||||||rs9613957||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29563501T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.308-1639A>G|||||||rs9613957||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29563501T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.368-1639A>G|||||||rs9613957||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29563501T>C|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|22|-2|22|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=36480;gnomADv4_1_AC_joint_XX=19121;gnomADv4_1_AC_joint_XY=17359;gnomADv4_1_AF_grpmax_joint=0.283313;gnomADv4_1_AF_joint=0.240231;gnomADv4_1_AF_joint_XX=0.246246;gnomADv4_1_AF_joint_XY=0.233936;gnomADv4_1_AN_grpmax_joint=67886;gnomADv4_1_AN_joint=151854;gnomADv4_1_AN_joint_XX=77650;gnomADv4_1_AN_joint_XY=74204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4450;gnomADv4_1_nhomalt_joint_XX=2358;gnomADv4_1_nhomalt_joint_XY=2092;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29564346 chr22_29564346_A_G A G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.115;CADD_Rawscore=0.17881;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.368-2484T>C|||||||rs456300||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29564346A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.417-2484T>C|||||||rs456300||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29564346A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-38-2484T>C|||||||rs456300||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29564346A>G|||||||||||||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay|5/7||ENST00000455496.1:c.*6T>C||404|||||rs456300||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29564346A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.308-2484T>C|||||||rs456300||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29564346A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.368-2484T>C|||||||rs456300||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29564346A>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.14|0.00|0.00|0.00|25|-11|10|26;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=256297;gnomADv4_1_AC_joint_XX=115206;gnomADv4_1_AC_joint_XY=141091;gnomADv4_1_AF_grpmax_joint=0.684384;gnomADv4_1_AF_joint=0.544569;gnomADv4_1_AF_joint_XX=0.532671;gnomADv4_1_AF_joint_XY=0.554686;gnomADv4_1_AN_grpmax_joint=64550;gnomADv4_1_AN_joint=470642;gnomADv4_1_AN_joint_XX=216280;gnomADv4_1_AN_joint_XY=254362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=71922;gnomADv4_1_nhomalt_joint_XX=31456;gnomADv4_1_nhomalt_joint_XY=40466;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29564779 chr22_29564779_T_G T G 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=13.83;CADD_Rawscore=1.44119;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.368-2917A>C|||||||rs9608781||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29564779T>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.417-2917A>C|||||||rs9608781||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29564779T>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-38-2917A>C|||||||rs9608781||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29564779T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||4/6|ENST00000455496.1:c.368-408A>C|||||||rs9608781||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29564779T>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.308-2917A>C|||||||rs9608781||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29564779T>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.368-2917A>C|||||||rs9608781||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29564779T>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|-34|-3|41|-3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=36656;gnomADv4_1_AC_joint_XX=19185;gnomADv4_1_AC_joint_XY=17471;gnomADv4_1_AF_grpmax_joint=0.28415;gnomADv4_1_AF_joint=0.241009;gnomADv4_1_AF_joint_XX=0.246771;gnomADv4_1_AF_joint_XY=0.234983;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4527;gnomADv4_1_nhomalt_joint_XX=2390;gnomADv4_1_nhomalt_joint_XY=2137;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29565997 chr22_29565997_G_T G T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=5.831;CADD_Rawscore=0.536247;CSQ=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.367+3196C>A|||||||rs467768||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29565997G>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.416+3196C>A|||||||rs467768||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29565997G>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-39+3196C>A|||||||rs467768||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29565997G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||4/6|ENST00000455496.1:c.368-1626C>A|||||||rs467768||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29565997G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs467768|3869|-1||HGNC|HGNC:7827|2||||||||Ensembl||G|G||||chr22:g.29565997G>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.307+3196C>A|||||||rs467768||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29565997G>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.367+3196C>A|||||||rs467768||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29565997G>T|||||||||||||;SpliceAI=T|NIPSNAP1|0.00|0.00|0.00|0.00|-32|-16|-32|-24;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16312;gnomADv4_1_AC_joint_XX=8191;gnomADv4_1_AC_joint_XY=8121;gnomADv4_1_AF_grpmax_joint=0.163832;gnomADv4_1_AF_joint=0.107233;gnomADv4_1_AF_joint_XX=0.105326;gnomADv4_1_AF_joint_XY=0.109227;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1128;gnomADv4_1_nhomalt_joint_XX=569;gnomADv4_1_nhomalt_joint_XY=559;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29566058 chr22_29566058_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.561;CADD_Rawscore=0.098532;CSQ=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.367+3135G>A|||||||rs8142111||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29566058C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.416+3135G>A|||||||rs8142111||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29566058C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-39+3135G>A|||||||rs8142111||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29566058C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||4/6|ENST00000455496.1:c.368-1687G>A|||||||rs8142111||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29566058C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs8142111|3808|-1||HGNC|HGNC:7827|2||||||||Ensembl||C|C||||chr22:g.29566058C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.307+3135G>A|||||||rs8142111||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29566058C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.367+3135G>A|||||||rs8142111||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29566058C>T|||||||||||||;SpliceAI=T|NIPSNAP1|0.00|0.00|0.00|0.00|-2|21|-4|21;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36464;gnomADv4_1_AC_joint_XX=19096;gnomADv4_1_AC_joint_XY=17368;gnomADv4_1_AF_grpmax_joint=0.284321;gnomADv4_1_AF_joint=0.239923;gnomADv4_1_AF_joint_XX=0.245728;gnomADv4_1_AF_joint_XY=0.233849;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=151982;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4492;gnomADv4_1_nhomalt_joint_XX=2376;gnomADv4_1_nhomalt_joint_XY=2116;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29566088 chr22_29566088_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.296;CADD_Rawscore=0.049783;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.367+3105T>C|||||||rs468254||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29566088A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.416+3105T>C|||||||rs468254||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29566088A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-39+3105T>C|||||||rs468254||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29566088A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||4/6|ENST00000455496.1:c.368-1717T>C|||||||rs468254||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29566088A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs468254|3778|-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29566088A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.307+3105T>C|||||||rs468254||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29566088A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.367+3105T>C|||||||rs468254||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29566088A>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|-5|-9|-1|-9;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129511;gnomADv4_1_AC_joint_XX=66273;gnomADv4_1_AC_joint_XY=63238;gnomADv4_1_AF_grpmax_joint=0.958558;gnomADv4_1_AF_joint=0.851755;gnomADv4_1_AF_joint_XX=0.852408;gnomADv4_1_AF_joint_XY=0.851071;gnomADv4_1_AN_grpmax_joint=41504;gnomADv4_1_AN_joint=152052;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=55870;gnomADv4_1_nhomalt_joint_XX=28598;gnomADv4_1_nhomalt_joint_XY=27272;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29566141 chr22_29566141_C_CT C CT 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=1.077;CADDIndel_Rawscore=0.001521;CSQ=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.367+3051dup|||||||rs11369607||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl|||||||chr22:g.29566146dup|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.416+3051dup|||||||rs11369607||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl|||||||chr22:g.29566146dup|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-39+3051dup|||||||rs11369607||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl|||||||chr22:g.29566146dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||4/6|ENST00000455496.1:c.368-1771dup|||||||rs11369607||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl|||||||chr22:g.29566146dup|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs11369607|3724|-1||HGNC|HGNC:7827|2||||||||Ensembl|||||||chr22:g.29566146dup|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.307+3051dup|||||||rs11369607||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq|||||||chr22:g.29566146dup|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.367+3051dup|||||||rs11369607||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq|||||||chr22:g.29566146dup|||||||||||||;SpliceAI=CT|NIPSNAP1|0.00|0.00|0.00|0.00|18|-29|39|41;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119683;gnomADv4_1_AC_joint_XX=61275;gnomADv4_1_AC_joint_XY=58408;gnomADv4_1_AF_grpmax_joint=0.880854;gnomADv4_1_AF_joint=0.790352;gnomADv4_1_AF_joint_XX=0.79036;gnomADv4_1_AF_joint_XY=0.790344;gnomADv4_1_AN_grpmax_joint=41252;gnomADv4_1_AN_joint=151430;gnomADv4_1_AN_joint_XX=77528;gnomADv4_1_AN_joint_XY=73902;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=47874;gnomADv4_1_nhomalt_joint_XX=24500;gnomADv4_1_nhomalt_joint_XY=23374;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29566160 chr22_29566160_C_CT C CT 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.116;CADDIndel_Rawscore=-0.57186;CSQ=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.367+3032dup|||||||rs11369608||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl|||||||chr22:g.29566170dup|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.416+3032dup|||||||rs11369608||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl|||||||chr22:g.29566170dup|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-39+3032dup|||||||rs11369608||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl|||||||chr22:g.29566170dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||4/6|ENST00000455496.1:c.368-1790dup|||||||rs11369608||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl|||||||chr22:g.29566170dup|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs11369608|3705|-1||HGNC|HGNC:7827|2||||||||Ensembl|||||||chr22:g.29566170dup|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.307+3032dup|||||||rs11369608||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq|||||||chr22:g.29566170dup|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.367+3032dup|||||||rs11369608||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq|||||||chr22:g.29566170dup|||||||||||||;SpliceAI=CT|NIPSNAP1|0.00|0.00|0.00|0.00|-27|-48|45|37;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=117135;gnomADv4_1_AC_joint_XX=60089;gnomADv4_1_AC_joint_XY=57046;gnomADv4_1_AF_grpmax_joint=0.875012;gnomADv4_1_AF_joint=0.786035;gnomADv4_1_AF_joint_XX=0.786402;gnomADv4_1_AF_joint_XY=0.785649;gnomADv4_1_AN_grpmax_joint=40580;gnomADv4_1_AN_joint=149020;gnomADv4_1_AN_joint_XX=76410;gnomADv4_1_AN_joint_XY=72610;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=46483;gnomADv4_1_nhomalt_joint_XX=23851;gnomADv4_1_nhomalt_joint_XY=22632;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29566454 chr22_29566454_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=12.22;CADD_Rawscore=1.20312;CSQ=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.367+2739C>T|||||||rs468150||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29566454G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.416+2739C>T|||||||rs468150||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29566454G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-39+2739C>T|||||||rs468150||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29566454G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||4/6|ENST00000455496.1:c.368-2083C>T|||||||rs468150||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29566454G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs468150|3412|-1||HGNC|HGNC:7827|2||||||||Ensembl||G|G||||chr22:g.29566454G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.307+2739C>T|||||||rs468150||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29566454G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.367+2739C>T|||||||rs468150||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29566454G>A|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.00|0.00|1|33|16|33;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80051;gnomADv4_1_AC_joint_XX=40418;gnomADv4_1_AC_joint_XY=39633;gnomADv4_1_AF_grpmax_joint=0.663553;gnomADv4_1_AF_joint=0.527262;gnomADv4_1_AF_joint_XX=0.520555;gnomADv4_1_AF_joint_XY=0.534281;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=151824;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74180;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=21347;gnomADv4_1_nhomalt_joint_XX=10595;gnomADv4_1_nhomalt_joint_XY=10752;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29567519 chr22_29567519_C_T C T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.909;CADD_Rawscore=-0.042373;CSQ=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.367+1674G>A|||||||rs468902||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29567519C>T|||1||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.416+1674G>A|||||||rs468902||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29567519C>T|||1||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-39+1674G>A|||||||rs468902||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29567519C>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||4/6|ENST00000455496.1:c.367+1674G>A|||||||rs468902||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29567519C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs468902|2347|-1||HGNC|HGNC:7827|2||||||||Ensembl||C|C||||chr22:g.29567519C>T|||1||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.307+1674G>A|||||||rs468902||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29567519C>T|||1||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.367+1674G>A|||||||rs468902||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29567519C>T|||1||||||||||;SpliceAI=T|NIPSNAP1|0.00|0.00|0.00|0.00|-3|26|-48|-22;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80096;gnomADv4_1_AC_joint_XX=40436;gnomADv4_1_AC_joint_XY=39660;gnomADv4_1_AF_grpmax_joint=0.664108;gnomADv4_1_AF_joint=0.527357;gnomADv4_1_AF_joint_XX=0.520613;gnomADv4_1_AF_joint_XY=0.534415;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=151882;gnomADv4_1_AN_joint_XX=77670;gnomADv4_1_AN_joint_XY=74212;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=21369;gnomADv4_1_nhomalt_joint_XX=10606;gnomADv4_1_nhomalt_joint_XY=10763;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29567611 chr22_29567611_G_C G C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.791;CADD_Rawscore=0.25401;CSQ=C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.367+1582C>G|||||||rs468563||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29567611G>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.416+1582C>G|||||||rs468563||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29567611G>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-39+1582C>G|||||||rs468563||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29567611G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||4/6|ENST00000455496.1:c.367+1582C>G|||||||rs468563||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29567611G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs468563|2255|-1||HGNC|HGNC:7827|2||||||||Ensembl||G|G||||chr22:g.29567611G>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.307+1582C>G|||||||rs468563||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29567611G>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.367+1582C>G|||||||rs468563||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29567611G>C|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|48|-41|-18|36;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16326;gnomADv4_1_AC_joint_XX=8202;gnomADv4_1_AC_joint_XY=8124;gnomADv4_1_AF_grpmax_joint=0.16404;gnomADv4_1_AF_joint=0.107316;gnomADv4_1_AF_joint_XX=0.105449;gnomADv4_1_AF_joint_XY=0.10927;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1129;gnomADv4_1_nhomalt_joint_XX=570;gnomADv4_1_nhomalt_joint_XY=559;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29568178 chr22_29568178_CAA_C CAA C 15 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=15;CADDIndel_PHREDscore=1.093;CADDIndel_Rawscore=0.005196;CSQ=-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.367+1013_367+1014del|||||||rs33974680||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||AA|AA||||chr22:g.29568201_29568202del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.416+1013_416+1014del|||||||rs33974680||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||AA|AA||||chr22:g.29568201_29568202del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-39+1013_-39+1014del|||||||rs33974680||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||AA|AA||||chr22:g.29568201_29568202del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||4/6|ENST00000455496.1:c.367+1013_367+1014del|||||||rs33974680||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||AA|AA||||chr22:g.29568201_29568202del|||||||||||||,-|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs33974680|1686|-1||HGNC|HGNC:7827|2||||||||Ensembl||AA|AA||||chr22:g.29568201_29568202del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.307+1013_307+1014del|||||||rs33974680||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||AA|AA||||chr22:g.29568201_29568202del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.367+1013_367+1014del|||||||rs33974680||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||AA|AA||||chr22:g.29568201_29568202del|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|-27|-7|3|45;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16346;gnomADv4_1_AC_joint_XX=9145;gnomADv4_1_AC_joint_XY=7201;gnomADv4_1_AF_grpmax_joint=0.465382;gnomADv4_1_AF_joint=0.397268;gnomADv4_1_AF_joint_XX=0.395032;gnomADv4_1_AF_joint_XY=0.400144;gnomADv4_1_AN_grpmax_joint=8146;gnomADv4_1_AN_joint=41146;gnomADv4_1_AN_joint_XX=23150;gnomADv4_1_AN_joint_XY=17996;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1405;gnomADv4_1_nhomalt_joint_XX=717;gnomADv4_1_nhomalt_joint_XY=688;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29568496 chr22_29568496_G_GA G GA 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=33;CADDIndel_PHREDscore=0.203;CADDIndel_Rawscore=-0.422541;CSQ=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.367+696dup|||||||rs695602||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl|||||||chr22:g.29568510dup|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.416+696dup|||||||rs695602||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl|||||||chr22:g.29568510dup|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-39+696dup|||||||rs695602||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl|||||||chr22:g.29568510dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||4/6|ENST00000455496.1:c.367+696dup|||||||rs695602||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl|||||||chr22:g.29568510dup|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs695602|1369|-1||HGNC|HGNC:7827|2||||||||Ensembl|||||||chr22:g.29568510dup|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.307+696dup|||||||rs695602||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq|||||||chr22:g.29568510dup|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.367+696dup|||||||rs695602||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq|||||||chr22:g.29568510dup|||||||||||||;SpliceAI=GA|NIPSNAP1|0.00|0.00|0.00|0.00|-17|-21|-21|37;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61339;gnomADv4_1_AC_joint_XX=32527;gnomADv4_1_AC_joint_XY=28812;gnomADv4_1_AF_grpmax_joint=0.771602;gnomADv4_1_AF_joint=0.550748;gnomADv4_1_AF_joint_XX=0.557351;gnomADv4_1_AF_joint_XY=0.543479;gnomADv4_1_AN_grpmax_joint=4282;gnomADv4_1_AN_joint=111374;gnomADv4_1_AN_joint_XX=58360;gnomADv4_1_AN_joint_XY=53014;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13807;gnomADv4_1_nhomalt_joint_XX=7426;gnomADv4_1_nhomalt_joint_XY=6381;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29568661 chr22_29568661_A_G A G 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.396;CADD_Rawscore=-0.251665;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.367+532T>C|||||||rs9613958||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29568661A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.416+532T>C|||||||rs9613958||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29568661A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-39+532T>C|||||||rs9613958||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29568661A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||4/6|ENST00000455496.1:c.367+532T>C|||||||rs9613958||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29568661A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs9613958|1205|-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29568661A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.307+532T>C|||||||rs9613958||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29568661A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.367+532T>C|||||||rs9613958||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29568661A>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|29|6|48|6;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36372;gnomADv4_1_AC_joint_XX=19063;gnomADv4_1_AC_joint_XY=17309;gnomADv4_1_AF_grpmax_joint=0.284154;gnomADv4_1_AF_joint=0.239548;gnomADv4_1_AF_joint_XX=0.245493;gnomADv4_1_AF_joint_XY=0.233325;gnomADv4_1_AN_grpmax_joint=67928;gnomADv4_1_AN_joint=151836;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74184;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4464;gnomADv4_1_nhomalt_joint_XX=2363;gnomADv4_1_nhomalt_joint_XY=2101;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29569179 chr22_29569179_G_C G C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=6.106;CADD_Rawscore=0.563893;CSQ=C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||4/9|ENST00000216121.12:c.367+14C>G|||||||rs467669||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29569179G>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||5/7|ENST00000415100.5:c.416+14C>G|||||||rs467669||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29569179G>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||4/7|ENST00000437094.5:c.-39+14C>G|||||||rs467669||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29569179G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||4/6|ENST00000455496.1:c.367+14C>G|||||||rs467669||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29569179G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs467669|687|-1||HGNC|HGNC:7827|2||||||||Ensembl||G|G||||chr22:g.29569179G>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||4/9|NM_001202502.2:c.307+14C>G|||||||rs467669||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29569179G>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||4/9|NM_003634.4:c.367+14C>G|||||||rs467669||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29569179G>C|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|37|-8|18|14;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=223232;gnomADv4_1_AC_joint_XX=111350;gnomADv4_1_AC_joint_XY=111882;gnomADv4_1_AF_grpmax_joint=0.168192;gnomADv4_1_AF_joint=0.138583;gnomADv4_1_AF_joint_XX=0.137359;gnomADv4_1_AF_joint_XY=0.139824;gnomADv4_1_AN_grpmax_joint=90884;gnomADv4_1_AN_joint=1610814;gnomADv4_1_AN_joint_XX=810652;gnomADv4_1_AN_joint_XY=800162;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=16663;gnomADv4_1_nhomalt_joint_XX=8295;gnomADv4_1_nhomalt_joint_XY=8368;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29569678 chr22_29569678_TA_T TA T 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.405;CADDIndel_Rawscore=-0.245957;CSQ=-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||3/9|ENST00000216121.12:c.273-392del|||||||rs35756780||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29569692del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||4/7|ENST00000415100.5:c.322-392del|||||||rs35756780||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29569692del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||3/7|ENST00000437094.5:c.-133-392del|||||||rs35756780||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29569692del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||3/6|ENST00000455496.1:c.273-392del|||||||rs35756780||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29569692del|||||||||||||,-|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs35756780|187|-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29569692del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||3/9|NM_001202502.2:c.213-392del|||||||rs35756780||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29569692del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||3/9|NM_003634.4:c.273-392del|||||||rs35756780||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29569692del|||||||||||||;SpliceAI=T|NIPSNAP1|0.00|0.00|0.00|0.00|-5|-3|4|3;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118290;gnomADv4_1_AC_joint_XX=61366;gnomADv4_1_AC_joint_XY=56924;gnomADv4_1_AF_grpmax_joint=0.953956;gnomADv4_1_AF_joint=0.843182;gnomADv4_1_AF_joint_XX=0.844238;gnomADv4_1_AF_joint_XY=0.842046;gnomADv4_1_AN_grpmax_joint=37812;gnomADv4_1_AN_joint=140290;gnomADv4_1_AN_joint_XX=72688;gnomADv4_1_AN_joint_XY=67602;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=50258;gnomADv4_1_nhomalt_joint_XX=26114;gnomADv4_1_nhomalt_joint_XY=24144;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29569891 chr22_29569891_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=4.53;CADD_Rawscore=0.412648;CSQ=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||3/9|ENST00000216121.12:c.272+271C>T|||||||rs2267147||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29569891G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||4/7|ENST00000415100.5:c.321+271C>T|||||||rs2267147||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29569891G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||3/7|ENST00000437094.5:c.-134+271C>T|||||||rs2267147||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29569891G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||3/6|ENST00000455496.1:c.272+271C>T|||||||rs2267147||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29569891G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron|3/3||ENST00000496944.1:n.561C>T||561|||||rs2267147||-1||HGNC|HGNC:7827|2||||||||Ensembl||G|G||||chr22:g.29569891G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||3/9|NM_001202502.2:c.212+271C>T|||||||rs2267147||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29569891G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||3/9|NM_003634.4:c.272+271C>T|||||||rs2267147||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29569891G>A|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.03|0.00|-4|20|21|-27;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=110902;gnomADv4_1_AC_joint_XX=54944;gnomADv4_1_AC_joint_XY=55958;gnomADv4_1_AF_grpmax_joint=0.276452;gnomADv4_1_AF_joint=0.235397;gnomADv4_1_AF_joint_XX=0.24494;gnomADv4_1_AF_joint_XY=0.226723;gnomADv4_1_AN_grpmax_joint=258906;gnomADv4_1_AN_joint=471128;gnomADv4_1_AN_joint_XX=224316;gnomADv4_1_AN_joint_XY=246812;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13857;gnomADv4_1_nhomalt_joint_XX=6989;gnomADv4_1_nhomalt_joint_XY=6868;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29570094 chr22_29570094_C_T C T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.22;CADD_Rawscore=-0.401679;CSQ=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||3/9|ENST00000216121.12:c.272+68G>A|||||||rs456285||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29570094C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||4/7|ENST00000415100.5:c.321+68G>A|||||||rs456285||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29570094C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||3/7|ENST00000437094.5:c.-134+68G>A|||||||rs456285||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29570094C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||3/6|ENST00000455496.1:c.272+68G>A|||||||rs456285||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29570094C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron|3/3||ENST00000496944.1:n.358G>A||358|||||rs456285||-1||HGNC|HGNC:7827|2||||||||Ensembl||C|C||||chr22:g.29570094C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||3/9|NM_001202502.2:c.212+68G>A|||||||rs456285||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29570094C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||3/9|NM_003634.4:c.272+68G>A|||||||rs456285||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29570094C>T|||||||||||||;SpliceAI=T|NIPSNAP1|0.00|0.00|0.00|0.00|-2|-48|-2|-43;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1020558;gnomADv4_1_AC_joint_XX=502410;gnomADv4_1_AC_joint_XY=518148;gnomADv4_1_AF_grpmax_joint=0.877427;gnomADv4_1_AF_joint=0.763286;gnomADv4_1_AF_joint_XX=0.762186;gnomADv4_1_AF_joint_XY=0.764356;gnomADv4_1_AN_grpmax_joint=69338;gnomADv4_1_AN_joint=1337058;gnomADv4_1_AN_joint_XX=659170;gnomADv4_1_AN_joint_XY=677888;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=393331;gnomADv4_1_nhomalt_joint_XX=193398;gnomADv4_1_nhomalt_joint_XY=199933;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29570328 chr22_29570328_C_G C G 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=7.977;CADD_Rawscore=0.766275;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||2/9|ENST00000216121.12:c.226+77G>C|||||||rs457930||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29570328C>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||3/7|ENST00000415100.5:c.275+77G>C|||||||rs457930||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29570328C>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||2/7|ENST00000437094.5:c.-180+77G>C|||||||rs457930||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29570328C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||2/6|ENST00000455496.1:c.226+77G>C|||||||rs457930||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29570328C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||2/2|ENST00000496944.1:n.244+77G>C|||||||rs457930||-1||HGNC|HGNC:7827|2||||||||Ensembl||C|C||||chr22:g.29570328C>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||2/9|NM_001202502.2:c.166+77G>C|||||||rs457930||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29570328C>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||2/9|NM_003634.4:c.226+77G>C|||||||rs457930||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29570328C>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|37|3|-4|23;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=221239;gnomADv4_1_AC_joint_XX=110408;gnomADv4_1_AC_joint_XY=110831;gnomADv4_1_AF_grpmax_joint=0.165934;gnomADv4_1_AF_joint=0.137407;gnomADv4_1_AF_joint_XX=0.136268;gnomADv4_1_AF_joint_XY=0.138562;gnomADv4_1_AN_grpmax_joint=90970;gnomADv4_1_AN_joint=1610096;gnomADv4_1_AN_joint_XX=810228;gnomADv4_1_AN_joint_XY=799868;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=16385;gnomADv4_1_nhomalt_joint_XX=8167;gnomADv4_1_nhomalt_joint_XY=8218;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29571770 chr22_29571770_CT_C CT C 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.43;CADDIndel_Rawscore=-0.230691;CSQ=-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-1239del|||||||rs695673||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29571777del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-1239del|||||||rs695673||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29571777del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-1239del|||||||rs695673||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29571777del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-1239del|||||||rs695673||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29571777del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-1239del|||||||rs695673||-1||HGNC|HGNC:7827|2||||||||Ensembl||T|T||||chr22:g.29571777del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-1239del|||||||rs695673||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29571777del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-1239del|||||||rs695673||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29571777del|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|20|12|23|28;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31795;gnomADv4_1_AC_joint_XX=16265;gnomADv4_1_AC_joint_XY=15530;gnomADv4_1_AF_grpmax_joint=0.5926;gnomADv4_1_AF_joint=0.209437;gnomADv4_1_AF_joint_XX=0.209493;gnomADv4_1_AF_joint_XY=0.209378;gnomADv4_1_AN_grpmax_joint=5108;gnomADv4_1_AN_joint=151812;gnomADv4_1_AN_joint_XX=77640;gnomADv4_1_AN_joint_XY=74172;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3910;gnomADv4_1_nhomalt_joint_XX=1988;gnomADv4_1_nhomalt_joint_XY=1922;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29572302 chr22_29572302_CAA_C CAA C 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=30;CADDIndel_PHREDscore=0.868;CADDIndel_Rawscore=-0.054136;CSQ=-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-1772_99-1771del|||||||rs695769||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||AA|AA||||chr22:g.29572321_29572322del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-1772_148-1771del|||||||rs695769||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||AA|AA||||chr22:g.29572321_29572322del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-1772_-307-1771del|||||||rs695769||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||AA|AA||||chr22:g.29572321_29572322del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-1772_99-1771del|||||||rs695769||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||AA|AA||||chr22:g.29572321_29572322del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-1772_117-1771del|||||||rs695769||-1||HGNC|HGNC:7827|2||||||||Ensembl||AA|AA||||chr22:g.29572321_29572322del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-1772_39-1771del|||||||rs695769||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||AA|AA||||chr22:g.29572321_29572322del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-1772_99-1771del|||||||rs695769||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||AA|AA||||chr22:g.29572321_29572322del|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|-3|-27|-3|3;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22139;gnomADv4_1_AC_joint_XX=11931;gnomADv4_1_AC_joint_XY=10208;gnomADv4_1_AF_grpmax_joint=0.587652;gnomADv4_1_AF_joint=0.315865;gnomADv4_1_AF_joint_XX=0.318789;gnomADv4_1_AF_joint_XY=0.312515;gnomADv4_1_AN_grpmax_joint=3126;gnomADv4_1_AN_joint=70090;gnomADv4_1_AN_joint_XX=37426;gnomADv4_1_AN_joint_XY=32664;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1656;gnomADv4_1_nhomalt_joint_XX=847;gnomADv4_1_nhomalt_joint_XY=809;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29572801 chr22_29572801_A_AAAAAT A AAAAAT 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=1.299;CADDIndel_Rawscore=0.05045;CSQ=AAAAT|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-2274_99-2270dup|||||||rs1555973374||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl|||||||chr22:g.29572823_29572827dup|||||||||||||,AAAAT|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-2274_148-2270dup|||||||rs1555973374||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl|||||||chr22:g.29572823_29572827dup|||||||||||||,AAAAT|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-2274_-307-2270dup|||||||rs1555973374||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl|||||||chr22:g.29572823_29572827dup|||||||||||||,AAAAT|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-2274_99-2270dup|||||||rs1555973374||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl|||||||chr22:g.29572823_29572827dup|||||||||||||,AAAAT|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-2274_117-2270dup|||||||rs1555973374||-1||HGNC|HGNC:7827|2||||||||Ensembl|||||||chr22:g.29572823_29572827dup|||||||||||||,AAAAT|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-2274_39-2270dup|||||||rs1555973374||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq|||||||chr22:g.29572823_29572827dup|||||||||||||,AAAAT|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-2274_99-2270dup|||||||rs1555973374||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq|||||||chr22:g.29572823_29572827dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAAT,AAAAT,AAAAT,AAAAT,AAAAT,AAAAT,AAAAT;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=997;gnomADv4_1_AC_joint_XX=477;gnomADv4_1_AC_joint_XY=520;gnomADv4_1_AF_grpmax_joint=0.0257353;gnomADv4_1_AF_joint=0.00743065;gnomADv4_1_AF_joint_XX=0.00691064;gnomADv4_1_AF_joint_XY=0.00798158;gnomADv4_1_AN_grpmax_joint=272;gnomADv4_1_AN_joint=134174;gnomADv4_1_AN_joint_XX=69024;gnomADv4_1_AN_joint_XY=65150;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5;gnomADv4_1_nhomalt_joint_XX=2;gnomADv4_1_nhomalt_joint_XY=3;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29573286 chr22_29573286_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.139;CADD_Rawscore=-0.523414;CSQ=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-2754G>A|||||||rs9613961||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29573286C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-2754G>A|||||||rs9613961||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29573286C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-2754G>A|||||||rs9613961||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29573286C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-2754G>A|||||||rs9613961||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29573286C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-2754G>A|||||||rs9613961||-1||HGNC|HGNC:7827|2||||||||Ensembl||C|C||||chr22:g.29573286C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-2754G>A|||||||rs9613961||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29573286C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-2754G>A|||||||rs9613961||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29573286C>T|||||||||||||;SpliceAI=T|NIPSNAP1|0.00|0.00|0.00|0.00|-3|41|-2|-50;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36730;gnomADv4_1_AC_joint_XX=19229;gnomADv4_1_AC_joint_XY=17501;gnomADv4_1_AF_grpmax_joint=0.285086;gnomADv4_1_AF_joint=0.241778;gnomADv4_1_AF_joint_XX=0.247592;gnomADv4_1_AF_joint_XY=0.235697;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=151916;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4542;gnomADv4_1_nhomalt_joint_XX=2400;gnomADv4_1_nhomalt_joint_XY=2142;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29573389 chr22_29573389_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.418;CADD_Rawscore=-0.238256;CSQ=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-2857C>T|||||||rs4470427||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29573389G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-2857C>T|||||||rs4470427||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29573389G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-2857C>T|||||||rs4470427||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29573389G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-2857C>T|||||||rs4470427||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29573389G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-2857C>T|||||||rs4470427||-1||HGNC|HGNC:7827|2||||||||Ensembl||G|G||||chr22:g.29573389G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-2857C>T|||||||rs4470427||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29573389G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-2857C>T|||||||rs4470427||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29573389G>A|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.00|0.00|7|-4|7|-3;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36777;gnomADv4_1_AC_joint_XX=19254;gnomADv4_1_AC_joint_XY=17523;gnomADv4_1_AF_grpmax_joint=0.285143;gnomADv4_1_AF_joint=0.241827;gnomADv4_1_AF_joint_XX=0.247716;gnomADv4_1_AF_joint_XY=0.23567;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4564;gnomADv4_1_nhomalt_joint_XX=2412;gnomADv4_1_nhomalt_joint_XY=2152;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29573752 chr22_29573752_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.241;CADD_Rawscore=0.038459;CSQ=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-3220C>T|||||||rs695780||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29573752G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-3220C>T|||||||rs695780||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29573752G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-3220C>T|||||||rs695780||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29573752G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-3220C>T|||||||rs695780||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29573752G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-3220C>T|||||||rs695780||-1||HGNC|HGNC:7827|2||||||||Ensembl||G|G||||chr22:g.29573752G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-3220C>T|||||||rs695780||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29573752G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-3220C>T|||||||rs695780||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29573752G>A|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.00|0.00|-12|9|-12|9;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26682;gnomADv4_1_AC_joint_XX=14023;gnomADv4_1_AC_joint_XY=12659;gnomADv4_1_AF_grpmax_joint=0.561902;gnomADv4_1_AF_joint=0.191769;gnomADv4_1_AF_joint_XX=0.19471;gnomADv4_1_AF_joint_XY=0.188614;gnomADv4_1_AN_grpmax_joint=4184;gnomADv4_1_AN_joint=139136;gnomADv4_1_AN_joint_XX=72020;gnomADv4_1_AN_joint_XY=67116;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3040;gnomADv4_1_nhomalt_joint_XX=1617;gnomADv4_1_nhomalt_joint_XY=1423;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29573768 chr22_29573768_CA_C;chr22_29573768_C_CAAAAAAAAAAAA CA C 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=41;CADDIndel_PHREDscore=0.87;CADDIndel_Rawscore=-0.053613;CSQ=-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-3237del|||||||rs695672||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29573782del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-3237del|||||||rs695672||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29573782del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-3237del|||||||rs695672||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29573782del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-3237del|||||||rs695672||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29573782del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-3237del|||||||rs695672||-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29573782del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-3237del|||||||rs695672||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29573782del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-3237del|||||||rs695672||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29573782del|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|-28|-7|-28|46;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36953;gnomADv4_1_AC_joint_XX=19692;gnomADv4_1_AC_joint_XY=17261;gnomADv4_1_AF_grpmax_joint=0.315117;gnomADv4_1_AF_joint=0.295534;gnomADv4_1_AF_joint_XX=0.300165;gnomADv4_1_AF_joint_XY=0.290423;gnomADv4_1_AN_grpmax_joint=59178;gnomADv4_1_AN_joint=125038;gnomADv4_1_AN_joint_XX=65604;gnomADv4_1_AN_joint_XY=59434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5272;gnomADv4_1_nhomalt_joint_XX=2813;gnomADv4_1_nhomalt_joint_XY=2459;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29573768 chr22_29573768_CA_C;chr22_29573768_C_CAAAAAAAAAAAA C CAAAAAAAAAAAA 41 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=14;CADDIndel_PHREDscore=0.841;CADDIndel_Rawscore=-0.062353;CSQ=AAAAAAAAAAAA|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-3248_99-3237dup|||||||rs695672||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl|||||||chr22:g.29573771_29573782dup|||||||||||||,AAAAAAAAAAAA|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-3248_148-3237dup|||||||rs695672||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl|||||||chr22:g.29573771_29573782dup|||||||||||||,AAAAAAAAAAAA|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-3248_-307-3237dup|||||||rs695672||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl|||||||chr22:g.29573771_29573782dup|||||||||||||,AAAAAAAAAAAA|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-3248_99-3237dup|||||||rs695672||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl|||||||chr22:g.29573771_29573782dup|||||||||||||,AAAAAAAAAAAA|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-3248_117-3237dup|||||||rs695672||-1||HGNC|HGNC:7827|2||||||||Ensembl|||||||chr22:g.29573771_29573782dup|||||||||||||,AAAAAAAAAAAA|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-3248_39-3237dup|||||||rs695672||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq|||||||chr22:g.29573771_29573782dup|||||||||||||,AAAAAAAAAAAA|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-3248_99-3237dup|||||||rs695672||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq|||||||chr22:g.29573771_29573782dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAA;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11286;gnomADv4_1_AC_joint_XX=6249;gnomADv4_1_AC_joint_XY=5037;gnomADv4_1_AF_grpmax_joint=0.393815;gnomADv4_1_AF_joint=0.0924582;gnomADv4_1_AF_joint_XX=0.0974579;gnomADv4_1_AF_joint_XY=0.0869258;gnomADv4_1_AN_grpmax_joint=2684;gnomADv4_1_AN_joint=122066;gnomADv4_1_AN_joint_XX=64120;gnomADv4_1_AN_joint_XY=57946;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=706;gnomADv4_1_nhomalt_joint_XX=401;gnomADv4_1_nhomalt_joint_XY=305;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29573872 chr22_29573872_T_G T G 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.104;CADD_Rawscore=0.007972;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-3340A>C|||||||rs695399||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29573872T>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-3340A>C|||||||rs695399||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29573872T>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-3340A>C|||||||rs695399||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29573872T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-3340A>C|||||||rs695399||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29573872T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-3340A>C|||||||rs695399||-1||HGNC|HGNC:7827|2||||||||Ensembl||T|T||||chr22:g.29573872T>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-3340A>C|||||||rs695399||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29573872T>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-3340A>C|||||||rs695399||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29573872T>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|-35|39|5|-42;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71740;gnomADv4_1_AC_joint_XX=37192;gnomADv4_1_AC_joint_XY=34548;gnomADv4_1_AF_grpmax_joint=0.757261;gnomADv4_1_AF_joint=0.482195;gnomADv4_1_AF_joint_XX=0.487969;gnomADv4_1_AF_joint_XY=0.47613;gnomADv4_1_AN_grpmax_joint=5096;gnomADv4_1_AN_joint=148778;gnomADv4_1_AN_joint_XX=76218;gnomADv4_1_AN_joint_XY=72560;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17247;gnomADv4_1_nhomalt_joint_XX=9009;gnomADv4_1_nhomalt_joint_XY=8238;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29573939 chr22_29573939_A_AAAAAC A AAAAAC 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=11;CADDIndel_PHREDscore=0.434;CADDIndel_Rawscore=-0.228828;CSQ=AAAAC|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-3412_99-3408dup|||||||rs695343||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl|||||||chr22:g.29573964_29573968dup|||||||||||||,AAAAC|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-3412_148-3408dup|||||||rs695343||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl|||||||chr22:g.29573964_29573968dup|||||||||||||,AAAAC|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-3412_-307-3408dup|||||||rs695343||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl|||||||chr22:g.29573964_29573968dup|||||||||||||,AAAAC|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-3412_99-3408dup|||||||rs695343||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl|||||||chr22:g.29573964_29573968dup|||||||||||||,AAAAC|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-3412_117-3408dup|||||||rs695343||-1||HGNC|HGNC:7827|2||||||||Ensembl|||||||chr22:g.29573964_29573968dup|||||||||||||,AAAAC|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-3412_39-3408dup|||||||rs695343||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq|||||||chr22:g.29573964_29573968dup|||||||||||||,AAAAC|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-3412_99-3408dup|||||||rs695343||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq|||||||chr22:g.29573964_29573968dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAAC,AAAAC,AAAAC,AAAAC,AAAAC,AAAAC,AAAAC;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29203;gnomADv4_1_AC_joint_XX=15155;gnomADv4_1_AC_joint_XY=14048;gnomADv4_1_AF_grpmax_joint=0.568421;gnomADv4_1_AF_joint=0.19723;gnomADv4_1_AF_joint_XX=0.199277;gnomADv4_1_AF_joint_XY=0.195068;gnomADv4_1_AN_grpmax_joint=4750;gnomADv4_1_AN_joint=148066;gnomADv4_1_AN_joint_XX=76050;gnomADv4_1_AN_joint_XY=72016;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3409;gnomADv4_1_nhomalt_joint_XX=1776;gnomADv4_1_nhomalt_joint_XY=1633;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29574274 chr22_29574274_A_G A G 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=31;CADD_PHREDscore=0.827;CADD_Rawscore=-0.066751;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-3742T>C|||||||rs2348679||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29574274A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-3742T>C|||||||rs2348679||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29574274A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-3742T>C|||||||rs2348679||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29574274A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-3742T>C|||||||rs2348679||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29574274A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-3742T>C|||||||rs2348679||-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29574274A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-3742T>C|||||||rs2348679||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29574274A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-3742T>C|||||||rs2348679||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29574274A>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.01|0.00|0.00|0.00|-19|-12|-19|47;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34996;gnomADv4_1_AC_joint_XX=18460;gnomADv4_1_AC_joint_XY=16536;gnomADv4_1_AF_grpmax_joint=0.431771;gnomADv4_1_AF_joint=0.347569;gnomADv4_1_AF_joint_XX=0.354427;gnomADv4_1_AF_joint_XY=0.340219;gnomADv4_1_AN_grpmax_joint=1920;gnomADv4_1_AN_joint=100688;gnomADv4_1_AN_joint_XX=52084;gnomADv4_1_AN_joint_XY=48604;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5946;gnomADv4_1_nhomalt_joint_XX=3003;gnomADv4_1_nhomalt_joint_XY=2943;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29574279 chr22_29574279_A_G A G 23 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=23;CADD_PHREDscore=0.246;CADD_Rawscore=-0.372562;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-3747T>C|||||||rs2348680||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29574279A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-3747T>C|||||||rs2348680||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29574279A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-3747T>C|||||||rs2348680||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29574279A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-3747T>C|||||||rs2348680||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29574279A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-3747T>C|||||||rs2348680||-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29574279A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-3747T>C|||||||rs2348680||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29574279A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-3747T>C|||||||rs2348680||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29574279A>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.01|0.00|0.00|0.00|-24|-17|-24|42;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35754;gnomADv4_1_AC_joint_XX=18857;gnomADv4_1_AC_joint_XY=16897;gnomADv4_1_AF_grpmax_joint=0.480293;gnomADv4_1_AF_joint=0.374325;gnomADv4_1_AF_joint_XX=0.382185;gnomADv4_1_AF_joint_XY=0.365926;gnomADv4_1_AN_grpmax_joint=1776;gnomADv4_1_AN_joint=95516;gnomADv4_1_AN_joint_XX=49340;gnomADv4_1_AN_joint_XY=46176;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6207;gnomADv4_1_nhomalt_joint_XX=3145;gnomADv4_1_nhomalt_joint_XY=3062;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29574283 chr22_29574283_A_G;chr22_29574283_A_AAGAAAAGAAAG A G 22 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=22;CADD_PHREDscore=1.202;CADD_Rawscore=0.030002;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-3751T>C|||||||rs695454||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29574283A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-3751T>C|||||||rs695454||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29574283A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-3751T>C|||||||rs695454||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29574283A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-3751T>C|||||||rs695454||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29574283A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-3751T>C|||||||rs695454||-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29574283A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-3751T>C|||||||rs695454||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29574283A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-3751T>C|||||||rs695454||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29574283A>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.01|0.00|0.00|0.00|-28|-21|-28|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36059;gnomADv4_1_AC_joint_XX=19018;gnomADv4_1_AC_joint_XY=17041;gnomADv4_1_AF_grpmax_joint=0.378795;gnomADv4_1_AF_joint=0.324493;gnomADv4_1_AF_joint_XX=0.327287;gnomADv4_1_AF_joint_XY=0.321431;gnomADv4_1_AN_grpmax_joint=22400;gnomADv4_1_AN_joint=111124;gnomADv4_1_AN_joint_XX=58108;gnomADv4_1_AN_joint_XY=53016;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6409;gnomADv4_1_nhomalt_joint_XX=3251;gnomADv4_1_nhomalt_joint_XY=3158;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29574283 chr22_29574283_A_G;chr22_29574283_A_AAGAAAAGAAAG A AAGAAAAGAAAG 22 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADDIndel_PHREDscore=0.412;CADDIndel_Rawscore=-0.241688;CSQ=AGAAAAGAAAG|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-3752_99-3751insCTTTCTTTTCT|||||||rs1555973585||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl|||||||chr22:g.29574284_29574285insGAAAAGAAAGA|||||||||||||,AGAAAAGAAAG|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-3752_148-3751insCTTTCTTTTCT|||||||rs1555973585||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl|||||||chr22:g.29574284_29574285insGAAAAGAAAGA|||||||||||||,AGAAAAGAAAG|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-3752_-307-3751insCTTTCTTTTCT|||||||rs1555973585||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl|||||||chr22:g.29574284_29574285insGAAAAGAAAGA|||||||||||||,AGAAAAGAAAG|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-3752_99-3751insCTTTCTTTTCT|||||||rs1555973585||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl|||||||chr22:g.29574284_29574285insGAAAAGAAAGA|||||||||||||,AGAAAAGAAAG|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-3752_117-3751insCTTTCTTTTCT|||||||rs1555973585||-1||HGNC|HGNC:7827|2||||||||Ensembl|||||||chr22:g.29574284_29574285insGAAAAGAAAGA|||||||||||||,AGAAAAGAAAG|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-3752_39-3751insCTTTCTTTTCT|||||||rs1555973585||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq|||||||chr22:g.29574284_29574285insGAAAAGAAAGA|||||||||||||,AGAAAAGAAAG|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-3752_99-3751insCTTTCTTTTCT|||||||rs1555973585||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq|||||||chr22:g.29574284_29574285insGAAAAGAAAGA|||||||||||||;TYPE=INDEL;VEP_Allele=AGAAAAGAAAG,AGAAAAGAAAG,AGAAAAGAAAG,AGAAAAGAAAG,AGAAAAGAAAG,AGAAAAGAAAG,AGAAAAGAAAG;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=0;gnomADv4_1_AC_joint_XX=0;gnomADv4_1_AC_joint_XY=0;gnomADv4_1_AF_joint=0.0;gnomADv4_1_AF_joint_XX=0.0;gnomADv4_1_AF_joint_XY=0.0;gnomADv4_1_AN_joint=111208;gnomADv4_1_AN_joint_XX=58196;gnomADv4_1_AN_joint_XY=53012;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29574289 chr22_29574289_A_G A G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=36;CADD_PHREDscore=0.243;CADD_Rawscore=-0.376492;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-3757T>C|||||||rs695660||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29574289A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-3757T>C|||||||rs695660||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29574289A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-3757T>C|||||||rs695660||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29574289A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-3757T>C|||||||rs695660||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29574289A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-3757T>C|||||||rs695660||-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29574289A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-3757T>C|||||||rs695660||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29574289A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-3757T>C|||||||rs695660||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29574289A>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.01|0.00|0.00|0.00|-34|-27|-34|-4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50169;gnomADv4_1_AC_joint_XX=26700;gnomADv4_1_AC_joint_XY=23469;gnomADv4_1_AF_grpmax_joint=0.667777;gnomADv4_1_AF_joint=0.400155;gnomADv4_1_AF_joint_XX=0.408132;gnomADv4_1_AF_joint_XY=0.39145;gnomADv4_1_AN_grpmax_joint=3904;gnomADv4_1_AN_joint=125374;gnomADv4_1_AN_joint_XX=65420;gnomADv4_1_AN_joint_XY=59954;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11703;gnomADv4_1_nhomalt_joint_XX=6173;gnomADv4_1_nhomalt_joint_XY=5530;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29574313 chr22_29574313_T_G T G 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=31;CADD_PHREDscore=0.897;CADD_Rawscore=-0.04577;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-3781A>C|||||||rs695668||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29574313T>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-3781A>C|||||||rs695668||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29574313T>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-3781A>C|||||||rs695668||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29574313T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-3781A>C|||||||rs695668||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29574313T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-3781A>C|||||||rs695668||-1||HGNC|HGNC:7827|2||||||||Ensembl||T|T||||chr22:g.29574313T>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-3781A>C|||||||rs695668||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29574313T>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-3781A>C|||||||rs695668||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29574313T>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|34|35|35|-49;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27724;gnomADv4_1_AC_joint_XX=14465;gnomADv4_1_AC_joint_XY=13259;gnomADv4_1_AF_grpmax_joint=0.638109;gnomADv4_1_AF_joint=0.290146;gnomADv4_1_AF_joint_XX=0.289694;gnomADv4_1_AF_joint_XY=0.29064;gnomADv4_1_AN_grpmax_joint=4272;gnomADv4_1_AN_joint=95552;gnomADv4_1_AN_joint_XX=49932;gnomADv4_1_AN_joint_XY=45620;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3680;gnomADv4_1_nhomalt_joint_XX=1884;gnomADv4_1_nhomalt_joint_XY=1796;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29574642 chr22_29574642_G_A G A 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.879;CADD_Rawscore=-0.051138;CSQ=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-4110C>T|||||||rs459450||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29574642G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-4110C>T|||||||rs459450||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29574642G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-4110C>T|||||||rs459450||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29574642G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-4110C>T|||||||rs459450||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29574642G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-4110C>T|||||||rs459450||-1||HGNC|HGNC:7827|2||||||||Ensembl||G|G||||chr22:g.29574642G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-4110C>T|||||||rs459450||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29574642G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-4110C>T|||||||rs459450||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29574642G>A|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.00|0.00|-28|-9|28|0;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31829;gnomADv4_1_AC_joint_XX=16270;gnomADv4_1_AC_joint_XY=15559;gnomADv4_1_AF_grpmax_joint=0.591174;gnomADv4_1_AF_joint=0.209556;gnomADv4_1_AF_joint_XX=0.209487;gnomADv4_1_AF_joint_XY=0.209628;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=151888;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3911;gnomADv4_1_nhomalt_joint_XX=1987;gnomADv4_1_nhomalt_joint_XY=1924;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29574779 chr22_29574779_CA_C;chr22_29574779_C_CAA CA C 29 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=29;CADDIndel_PHREDscore=1.083;CADDIndel_Rawscore=0.002875;CSQ=-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-4248del|||||||rs56971788||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29574798del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-4248del|||||||rs56971788||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29574798del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-4248del|||||||rs56971788||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29574798del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-4248del|||||||rs56971788||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29574798del|||||||||||||,-|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs56971788|4977|-1||HGNC|HGNC:7827|3||||||||Ensembl||A|A||||chr22:g.29574798del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-4248del|||||||rs56971788||-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29574798del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-4248del|||||||rs56971788||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29574798del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-4248del|||||||rs56971788||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29574798del|||||||||||||;SpliceAI=C|NIPSNAP1|0.01|0.00|0.00|0.00|-7|-28|4|-7;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22813;gnomADv4_1_AC_joint_XX=12007;gnomADv4_1_AC_joint_XY=10806;gnomADv4_1_AF_grpmax_joint=0.542181;gnomADv4_1_AF_joint=0.222375;gnomADv4_1_AF_joint_XX=0.218834;gnomADv4_1_AF_joint_XY=0.226446;gnomADv4_1_AN_grpmax_joint=4054;gnomADv4_1_AN_joint=102588;gnomADv4_1_AN_joint_XX=54868;gnomADv4_1_AN_joint_XY=47720;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1930;gnomADv4_1_nhomalt_joint_XX=989;gnomADv4_1_nhomalt_joint_XY=941;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29574779 chr22_29574779_CA_C;chr22_29574779_C_CAA C CAA 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=29;CADDIndel_PHREDscore=1.145;CADDIndel_Rawscore=0.017292;CSQ=AA|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-4249_99-4248dup|||||||rs56971788||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl|||||||chr22:g.29574797_29574798dup|||||||||||||,AA|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-4249_148-4248dup|||||||rs56971788||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl|||||||chr22:g.29574797_29574798dup|||||||||||||,AA|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-4249_-307-4248dup|||||||rs56971788||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl|||||||chr22:g.29574797_29574798dup|||||||||||||,AA|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-4249_99-4248dup|||||||rs56971788||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl|||||||chr22:g.29574797_29574798dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs56971788|4977|-1||HGNC|HGNC:7827|3||||||||Ensembl|||||||chr22:g.29574797_29574798dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-4249_117-4248dup|||||||rs56971788||-1||HGNC|HGNC:7827|2||||||||Ensembl|||||||chr22:g.29574797_29574798dup|||||||||||||,AA|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-4249_39-4248dup|||||||rs56971788||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq|||||||chr22:g.29574797_29574798dup|||||||||||||,AA|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-4249_99-4248dup|||||||rs56971788||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq|||||||chr22:g.29574797_29574798dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA,AA;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26322;gnomADv4_1_AC_joint_XX=14471;gnomADv4_1_AC_joint_XY=11851;gnomADv4_1_AF_grpmax_joint=0.306788;gnomADv4_1_AF_joint=0.256986;gnomADv4_1_AF_joint_XX=0.264108;gnomADv4_1_AF_joint_XY=0.248793;gnomADv4_1_AN_grpmax_joint=51472;gnomADv4_1_AN_joint=102426;gnomADv4_1_AN_joint_XX=54792;gnomADv4_1_AN_joint_XY=47634;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2940;gnomADv4_1_nhomalt_joint_XX=1644;gnomADv4_1_nhomalt_joint_XY=1296;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29575000 chr22_29575000_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=8.219;CADD_Rawscore=0.792813;CSQ=C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-4468A>G|||||||rs460428||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29575000T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.148-4468A>G|||||||rs460428||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29575000T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-4468A>G|||||||rs460428||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29575000T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-4468A>G|||||||rs460428||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29575000T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs460428|4757|-1||HGNC|HGNC:7827|3||||||||Ensembl||T|T||||chr22:g.29575000T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-4468A>G|||||||rs460428||-1||HGNC|HGNC:7827|2||||||||Ensembl||T|T||||chr22:g.29575000T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-4468A>G|||||||rs460428||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29575000T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-4468A>G|||||||rs460428||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29575000T>C|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|-38|-3|15|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31881;gnomADv4_1_AC_joint_XX=16292;gnomADv4_1_AC_joint_XY=15589;gnomADv4_1_AF_grpmax_joint=0.591369;gnomADv4_1_AF_joint=0.209641;gnomADv4_1_AF_joint_XX=0.209603;gnomADv4_1_AF_joint_XY=0.209682;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3920;gnomADv4_1_nhomalt_joint_XX=1990;gnomADv4_1_nhomalt_joint_XY=1930;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29575710 chr22_29575710_GTT_G GTT G 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.7;CADDIndel_Rawscore=-0.108793;CSQ=-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.99-5180_99-5179del|||||||rs55772657||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||TT|TT||||chr22:g.29575722_29575723del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+4387_147+4388del|||||||rs55772657||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||TT|TT||||chr22:g.29575722_29575723del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-307-5180_-307-5179del|||||||rs55772657||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||TT|TT||||chr22:g.29575722_29575723del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.99-5180_99-5179del|||||||rs55772657||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||TT|TT||||chr22:g.29575722_29575723del|||||||||||||,-|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs55772657|4045|-1||HGNC|HGNC:7827|3||||||||Ensembl||TT|TT||||chr22:g.29575722_29575723del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.117-5180_117-5179del|||||||rs55772657||-1||HGNC|HGNC:7827|2||||||||Ensembl||TT|TT||||chr22:g.29575722_29575723del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.39-5180_39-5179del|||||||rs55772657||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||TT|TT||||chr22:g.29575722_29575723del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.99-5180_99-5179del|||||||rs55772657||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||TT|TT||||chr22:g.29575722_29575723del|||||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|50|20|-9|-33;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70284;gnomADv4_1_AC_joint_XX=36619;gnomADv4_1_AC_joint_XY=33665;gnomADv4_1_AF_grpmax_joint=0.733068;gnomADv4_1_AF_joint=0.47942;gnomADv4_1_AF_joint_XX=0.485663;gnomADv4_1_AF_joint_XY=0.47281;gnomADv4_1_AN_grpmax_joint=5020;gnomADv4_1_AN_joint=146602;gnomADv4_1_AN_joint_XX=75400;gnomADv4_1_AN_joint_XY=71202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16659;gnomADv4_1_nhomalt_joint_XX=8759;gnomADv4_1_nhomalt_joint_XY=7900;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29575880 chr22_29575880_A_C A C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.16;CADD_Rawscore=0.020843;CSQ=C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+5105T>G|||||||rs1807506||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29575880A>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+4219T>G|||||||rs1807506||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29575880A>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+5308T>G|||||||rs1807506||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29575880A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+5105T>G|||||||rs1807506||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29575880A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs1807506|3877|-1||HGNC|HGNC:7827|3||||||||Ensembl||A|A||||chr22:g.29575880A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+5105T>G|||||||rs1807506||-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29575880A>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+5165T>G|||||||rs1807506||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29575880A>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+5105T>G|||||||rs1807506||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29575880A>C|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|-29|-3|10|33;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36733;gnomADv4_1_AC_joint_XX=19231;gnomADv4_1_AC_joint_XY=17502;gnomADv4_1_AF_grpmax_joint=0.285319;gnomADv4_1_AF_joint=0.242283;gnomADv4_1_AF_joint_XX=0.248104;gnomADv4_1_AF_joint_XY=0.236194;gnomADv4_1_AN_grpmax_joint=67882;gnomADv4_1_AN_joint=151612;gnomADv4_1_AN_joint_XX=77512;gnomADv4_1_AN_joint_XY=74100;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4541;gnomADv4_1_nhomalt_joint_XX=2405;gnomADv4_1_nhomalt_joint_XY=2136;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29576013 chr22_29576013_C_CT C CT 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.233;CADDIndel_Rawscore=-0.386569;CSQ=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+4971dup|||||||rs35741168||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl|||||||chr22:g.29576026dup|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+4085dup|||||||rs35741168||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl|||||||chr22:g.29576026dup|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+5174dup|||||||rs35741168||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl|||||||chr22:g.29576026dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+4971dup|||||||rs35741168||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl|||||||chr22:g.29576026dup|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs35741168|3743|-1||HGNC|HGNC:7827|3||||||||Ensembl|||||||chr22:g.29576026dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+4971dup|||||||rs35741168||-1||HGNC|HGNC:7827|2||||||||Ensembl|||||||chr22:g.29576026dup|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+5031dup|||||||rs35741168||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq|||||||chr22:g.29576026dup|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+4971dup|||||||rs35741168||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq|||||||chr22:g.29576026dup|||||||||||||;SpliceAI=CT|NIPSNAP1|0.00|0.00|0.00|0.00|-34|-45|18|-10;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=79188;gnomADv4_1_AC_joint_XX=41530;gnomADv4_1_AC_joint_XY=37658;gnomADv4_1_AF_grpmax_joint=0.621755;gnomADv4_1_AF_joint=0.572432;gnomADv4_1_AF_joint_XX=0.576709;gnomADv4_1_AF_joint_XY=0.567788;gnomADv4_1_AN_grpmax_joint=64942;gnomADv4_1_AN_joint=138336;gnomADv4_1_AN_joint_XX=72012;gnomADv4_1_AN_joint_XY=66324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=22805;gnomADv4_1_nhomalt_joint_XX=12016;gnomADv4_1_nhomalt_joint_XY=10789;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29576090 chr22_29576090_C_G C G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=11.14;CADD_Rawscore=1.07515;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+4895G>C|||||||rs2530660||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29576090C>G|||1||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+4009G>C|||||||rs2530660||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29576090C>G|||1||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+5098G>C|||||||rs2530660||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29576090C>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+4895G>C|||||||rs2530660||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29576090C>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs2530660|3667|-1||HGNC|HGNC:7827|3||||||||Ensembl||C|C||||chr22:g.29576090C>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+4895G>C|||||||rs2530660||-1||HGNC|HGNC:7827|2||||||||Ensembl||C|C||||chr22:g.29576090C>G|||1||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+4955G>C|||||||rs2530660||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29576090C>G|||1||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+4895G>C|||||||rs2530660||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29576090C>G|||1||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|-26|19|-38|5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17624;gnomADv4_1_AC_joint_XX=8966;gnomADv4_1_AC_joint_XY=8658;gnomADv4_1_AF_grpmax_joint=0.161074;gnomADv4_1_AF_joint=0.117131;gnomADv4_1_AF_joint_XX=0.116266;gnomADv4_1_AF_joint_XY=0.11804;gnomADv4_1_AN_grpmax_joint=4768;gnomADv4_1_AN_joint=150464;gnomADv4_1_AN_joint_XX=77116;gnomADv4_1_AN_joint_XY=73348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1183;gnomADv4_1_nhomalt_joint_XX=604;gnomADv4_1_nhomalt_joint_XY=579;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29576143 chr22_29576143_C_T C T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.715;CADD_Rawscore=-0.103429;CSQ=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+4842G>A|||||||rs2262240||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29576143C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+3956G>A|||||||rs2262240||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29576143C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+5045G>A|||||||rs2262240||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29576143C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+4842G>A|||||||rs2262240||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29576143C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs2262240|3614|-1||HGNC|HGNC:7827|3||||||||Ensembl||C|C||||chr22:g.29576143C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+4842G>A|||||||rs2262240||-1||HGNC|HGNC:7827|2||||||||Ensembl||C|C||||chr22:g.29576143C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+4902G>A|||||||rs2262240||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29576143C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+4842G>A|||||||rs2262240||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29576143C>T|||||||||||||;SpliceAI=T|NIPSNAP1|0.00|0.00|0.00|0.00|-2|35|-10|35;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118196;gnomADv4_1_AC_joint_XX=60429;gnomADv4_1_AC_joint_XY=57767;gnomADv4_1_AF_grpmax_joint=0.879463;gnomADv4_1_AF_joint=0.788931;gnomADv4_1_AF_joint_XX=0.788746;gnomADv4_1_AF_joint_XY=0.789124;gnomADv4_1_AN_grpmax_joint=39656;gnomADv4_1_AN_joint=149818;gnomADv4_1_AN_joint_XX=76614;gnomADv4_1_AN_joint_XY=73204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=47276;gnomADv4_1_nhomalt_joint_XX=24156;gnomADv4_1_nhomalt_joint_XY=23120;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29576320 chr22_29576320_G_A G A 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.584;CADD_Rawscore=0.102415;CSQ=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+4665C>T|||||||rs695525||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29576320G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+3779C>T|||||||rs695525||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29576320G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+4868C>T|||||||rs695525||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29576320G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+4665C>T|||||||rs695525||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29576320G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs695525|3437|-1||HGNC|HGNC:7827|3||||||||Ensembl||G|G||||chr22:g.29576320G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+4665C>T|||||||rs695525||-1||HGNC|HGNC:7827|2||||||||Ensembl||G|G||||chr22:g.29576320G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+4725C>T|||||||rs695525||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29576320G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+4665C>T|||||||rs695525||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29576320G>A|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.00|0.00|34|22|2|-24;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32162;gnomADv4_1_AC_joint_XX=16458;gnomADv4_1_AC_joint_XY=15704;gnomADv4_1_AF_grpmax_joint=0.593471;gnomADv4_1_AF_joint=0.213349;gnomADv4_1_AF_joint_XX=0.213435;gnomADv4_1_AF_joint_XY=0.213259;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=150748;gnomADv4_1_AN_joint_XX=77110;gnomADv4_1_AN_joint_XY=73638;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4262;gnomADv4_1_nhomalt_joint_XX=2179;gnomADv4_1_nhomalt_joint_XY=2083;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29576386 chr22_29576386_C_CA C CA 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.159;CADDIndel_Rawscore=-0.487452;CSQ=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+4598dup|||||||rs67889640||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl|||||||chr22:g.29576395dup|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+3712dup|||||||rs67889640||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl|||||||chr22:g.29576395dup|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+4801dup|||||||rs67889640||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl|||||||chr22:g.29576395dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+4598dup|||||||rs67889640||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl|||||||chr22:g.29576395dup|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs67889640|3370|-1||HGNC|HGNC:7827|3||||||||Ensembl|||||||chr22:g.29576395dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+4598dup|||||||rs67889640||-1||HGNC|HGNC:7827|2||||||||Ensembl|||||||chr22:g.29576395dup|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+4658dup|||||||rs67889640||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq|||||||chr22:g.29576395dup|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+4598dup|||||||rs67889640||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq|||||||chr22:g.29576395dup|||||||||||||;SpliceAI=CA|NIPSNAP1|0.00|0.00|0.00|0.00|-44|-18|18|-44;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37508;gnomADv4_1_AC_joint_XX=19674;gnomADv4_1_AC_joint_XY=17834;gnomADv4_1_AF_grpmax_joint=0.286716;gnomADv4_1_AF_joint=0.252185;gnomADv4_1_AF_joint_XX=0.258142;gnomADv4_1_AF_joint_XY=0.245925;gnomADv4_1_AN_grpmax_joint=67464;gnomADv4_1_AN_joint=148732;gnomADv4_1_AN_joint_XX=76214;gnomADv4_1_AN_joint_XY=72518;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5181;gnomADv4_1_nhomalt_joint_XX=2755;gnomADv4_1_nhomalt_joint_XY=2426;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29576402 chr22_29576402_A_G A G 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.31;CADD_Rawscore=-0.313705;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+4583T>C|||||||rs9613963||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29576402A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+3697T>C|||||||rs9613963||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29576402A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+4786T>C|||||||rs9613963||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29576402A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+4583T>C|||||||rs9613963||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29576402A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs9613963|3355|-1||HGNC|HGNC:7827|3||||||||Ensembl||A|A||||chr22:g.29576402A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+4583T>C|||||||rs9613963||-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29576402A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+4643T>C|||||||rs9613963||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29576402A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+4583T>C|||||||rs9613963||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29576402A>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|-45|-31|-3|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37121;gnomADv4_1_AC_joint_XX=19470;gnomADv4_1_AC_joint_XY=17651;gnomADv4_1_AF_grpmax_joint=0.285195;gnomADv4_1_AF_joint=0.246252;gnomADv4_1_AF_joint_XX=0.252496;gnomADv4_1_AF_joint_XY=0.239713;gnomADv4_1_AN_grpmax_joint=67922;gnomADv4_1_AN_joint=150744;gnomADv4_1_AN_joint_XX=77110;gnomADv4_1_AN_joint_XY=73634;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5107;gnomADv4_1_nhomalt_joint_XX=2713;gnomADv4_1_nhomalt_joint_XY=2394;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29576886 chr22_29576886_C_G C G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.243;CADD_Rawscore=0.038848;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+4099G>C|||||||rs463220||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29576886C>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+3213G>C|||||||rs463220||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29576886C>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+4302G>C|||||||rs463220||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29576886C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+4099G>C|||||||rs463220||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29576886C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs463220|2871|-1||HGNC|HGNC:7827|3||||||||Ensembl||C|C||||chr22:g.29576886C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+4099G>C|||||||rs463220||-1||HGNC|HGNC:7827|2||||||||Ensembl||C|C||||chr22:g.29576886C>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+4159G>C|||||||rs463220||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29576886C>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+4099G>C|||||||rs463220||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29576886C>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|15|-1|-38|49;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22488;gnomADv4_1_AC_joint_XX=11493;gnomADv4_1_AC_joint_XY=10995;gnomADv4_1_AF_grpmax_joint=0.570123;gnomADv4_1_AF_joint=0.150309;gnomADv4_1_AF_joint_XX=0.149984;gnomADv4_1_AF_joint_XY=0.150649;gnomADv4_1_AN_grpmax_joint=5034;gnomADv4_1_AN_joint=149612;gnomADv4_1_AN_joint_XX=76628;gnomADv4_1_AN_joint_XY=72984;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2487;gnomADv4_1_nhomalt_joint_XX=1263;gnomADv4_1_nhomalt_joint_XY=1224;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29577088 chr22_29577088_AT_A AT A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.449;CADDIndel_Rawscore=-0.220113;CSQ=-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+3896del|||||||rs695823||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29577098del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+3010del|||||||rs695823||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29577098del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+4099del|||||||rs695823||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29577098del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+3896del|||||||rs695823||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29577098del|||||||||||||,-|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs695823|2668|-1||HGNC|HGNC:7827|3||||||||Ensembl||T|T||||chr22:g.29577098del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+3896del|||||||rs695823||-1||HGNC|HGNC:7827|2||||||||Ensembl||T|T||||chr22:g.29577098del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+3956del|||||||rs695823||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29577098del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+3896del|||||||rs695823||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29577098del|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.00|0.00|46|34|10|34;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31955;gnomADv4_1_AC_joint_XX=16353;gnomADv4_1_AC_joint_XY=15602;gnomADv4_1_AF_grpmax_joint=0.594939;gnomADv4_1_AF_joint=0.216084;gnomADv4_1_AF_joint_XX=0.215653;gnomADv4_1_AF_joint_XY=0.216538;gnomADv4_1_AN_grpmax_joint=5098;gnomADv4_1_AN_joint=147882;gnomADv4_1_AN_joint_XX=75830;gnomADv4_1_AN_joint_XY=72052;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4180;gnomADv4_1_nhomalt_joint_XX=2128;gnomADv4_1_nhomalt_joint_XY=2052;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29577419 chr22_29577419_AT_A AT A 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.521;CADDIndel_Rawscore=-0.182715;CSQ=-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+3565del|||||||rs695552||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29577433del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+2679del|||||||rs695552||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29577433del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+3768del|||||||rs695552||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29577433del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+3565del|||||||rs695552||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29577433del|||||||||||||,-|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs695552|2337|-1||HGNC|HGNC:7827|3||||||||Ensembl||T|T||||chr22:g.29577433del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+3565del|||||||rs695552||-1||HGNC|HGNC:7827|2||||||||Ensembl||T|T||||chr22:g.29577433del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+3625del|||||||rs695552||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29577433del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+3565del|||||||rs695552||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29577433del|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.00|0.00|-30|-4|-12|46;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22141;gnomADv4_1_AC_joint_XX=11377;gnomADv4_1_AC_joint_XY=10764;gnomADv4_1_AF_grpmax_joint=0.569644;gnomADv4_1_AF_joint=0.159944;gnomADv4_1_AF_joint_XX=0.159637;gnomADv4_1_AF_joint_XY=0.160269;gnomADv4_1_AN_grpmax_joint=4882;gnomADv4_1_AN_joint=138430;gnomADv4_1_AN_joint_XX=71268;gnomADv4_1_AN_joint_XY=67162;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2352;gnomADv4_1_nhomalt_joint_XX=1210;gnomADv4_1_nhomalt_joint_XY=1142;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29577512 chr22_29577512_T_C T C 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.015;CADD_Rawscore=-1.15065;CSQ=C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+3473A>G|||||||rs695776||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29577512T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+2587A>G|||||||rs695776||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29577512T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+3676A>G|||||||rs695776||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29577512T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+3473A>G|||||||rs695776||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29577512T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs695776|2245|-1||HGNC|HGNC:7827|3||||||||Ensembl||T|T||||chr22:g.29577512T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+3473A>G|||||||rs695776||-1||HGNC|HGNC:7827|2||||||||Ensembl||T|T||||chr22:g.29577512T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+3533A>G|||||||rs695776||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29577512T>C|||||||||||||,C|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+3473A>G|||||||rs695776||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29577512T>C|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|-47|-2|-10|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=134430;gnomADv4_1_AC_joint_XX=68902;gnomADv4_1_AC_joint_XY=65528;gnomADv4_1_AF_grpmax_joint=0.968646;gnomADv4_1_AF_joint=0.892653;gnomADv4_1_AF_joint_XX=0.894506;gnomADv4_1_AF_joint_XY=0.890713;gnomADv4_1_AN_grpmax_joint=40218;gnomADv4_1_AN_joint=150596;gnomADv4_1_AN_joint_XX=77028;gnomADv4_1_AN_joint_XY=73568;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=60301;gnomADv4_1_nhomalt_joint_XX=30981;gnomADv4_1_nhomalt_joint_XY=29320;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29577576 chr22_29577576_C_T C T 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.77;CADD_Rawscore=-0.084779;CSQ=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+3409G>A|||||||rs9613965||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29577576C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+2523G>A|||||||rs9613965||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29577576C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+3612G>A|||||||rs9613965||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29577576C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+3409G>A|||||||rs9613965||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29577576C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs9613965|2181|-1||HGNC|HGNC:7827|3||||||||Ensembl||C|C||||chr22:g.29577576C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+3409G>A|||||||rs9613965||-1||HGNC|HGNC:7827|2||||||||Ensembl||C|C||||chr22:g.29577576C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+3469G>A|||||||rs9613965||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29577576C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+3409G>A|||||||rs9613965||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29577576C>T|||||||||||||;SpliceAI=T|NIPSNAP1|0.00|0.00|0.00|0.00|-26|6|46|43;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37193;gnomADv4_1_AC_joint_XX=19498;gnomADv4_1_AC_joint_XY=17695;gnomADv4_1_AF_grpmax_joint=0.285359;gnomADv4_1_AF_joint=0.246838;gnomADv4_1_AF_joint_XX=0.253096;gnomADv4_1_AF_joint_XY=0.240291;gnomADv4_1_AN_grpmax_joint=67932;gnomADv4_1_AN_joint=150678;gnomADv4_1_AN_joint_XX=77038;gnomADv4_1_AN_joint_XY=73640;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5131;gnomADv4_1_nhomalt_joint_XX=2728;gnomADv4_1_nhomalt_joint_XY=2403;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29577645 chr22_29577645_C_T C T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.088;CADD_Rawscore=0.004021;CSQ=T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+3340G>A|||||||rs695816||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29577645C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+2454G>A|||||||rs695816||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29577645C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+3543G>A|||||||rs695816||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29577645C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+3340G>A|||||||rs695816||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29577645C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs695816|2112|-1||HGNC|HGNC:7827|3||||||||Ensembl||C|C||||chr22:g.29577645C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+3340G>A|||||||rs695816||-1||HGNC|HGNC:7827|2||||||||Ensembl||C|C||||chr22:g.29577645C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+3400G>A|||||||rs695816||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29577645C>T|||||||||||||,T|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+3340G>A|||||||rs695816||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29577645C>T|||||||||||||;SpliceAI=T|NIPSNAP1|0.00|0.00|0.00|0.00|34|23|-26|0;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32160;gnomADv4_1_AC_joint_XX=16446;gnomADv4_1_AC_joint_XY=15714;gnomADv4_1_AF_grpmax_joint=0.592478;gnomADv4_1_AF_joint=0.212873;gnomADv4_1_AF_joint_XX=0.212921;gnomADv4_1_AF_joint_XY=0.212823;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=151076;gnomADv4_1_AN_joint_XX=77240;gnomADv4_1_AN_joint_XY=73836;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4258;gnomADv4_1_nhomalt_joint_XX=2173;gnomADv4_1_nhomalt_joint_XY=2085;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29577819 chr22_29577819_A_G A G 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.094;CADD_Rawscore=-0.629025;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+3166T>C|||||||rs425992||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29577819A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+2280T>C|||||||rs425992||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29577819A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+3369T>C|||||||rs425992||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29577819A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+3166T>C|||||||rs425992||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29577819A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs425992|1938|-1||HGNC|HGNC:7827|3||||||||Ensembl||A|A||||chr22:g.29577819A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+3166T>C|||||||rs425992||-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29577819A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+3226T>C|||||||rs425992||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29577819A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+3166T>C|||||||rs425992||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29577819A>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|44|25|-10|-4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32005;gnomADv4_1_AC_joint_XX=16372;gnomADv4_1_AC_joint_XY=15633;gnomADv4_1_AF_grpmax_joint=0.592802;gnomADv4_1_AF_joint=0.213438;gnomADv4_1_AF_joint_XX=0.213255;gnomADv4_1_AF_joint_XY=0.21363;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=149950;gnomADv4_1_AN_joint_XX=76772;gnomADv4_1_AN_joint_XY=73178;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4218;gnomADv4_1_nhomalt_joint_XX=2147;gnomADv4_1_nhomalt_joint_XY=2071;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29577895 chr22_29577895_AT_A AT A 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=19;CADDIndel_PHREDscore=0.195;CADDIndel_Rawscore=-0.433542;CSQ=-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+3089del|||||||rs34431643||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29577916del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+2203del|||||||rs34431643||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29577916del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+3292del|||||||rs34431643||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29577916del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+3089del|||||||rs34431643||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29577916del|||||||||||||,-|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs34431643|1861|-1||HGNC|HGNC:7827|3||||||||Ensembl||T|T||||chr22:g.29577916del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+3089del|||||||rs34431643||-1||HGNC|HGNC:7827|2||||||||Ensembl||T|T||||chr22:g.29577916del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+3149del|||||||rs34431643||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29577916del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+3089del|||||||rs34431643||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29577916del|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.00|0.00|-23|-32|45|49;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23784;gnomADv4_1_AC_joint_XX=13179;gnomADv4_1_AC_joint_XY=10605;gnomADv4_1_AF_grpmax_joint=0.277877;gnomADv4_1_AF_joint=0.239608;gnomADv4_1_AF_joint_XX=0.251325;gnomADv4_1_AF_joint_XY=0.226486;gnomADv4_1_AN_grpmax_joint=50616;gnomADv4_1_AN_joint=99262;gnomADv4_1_AN_joint_XX=52438;gnomADv4_1_AN_joint_XY=46824;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2341;gnomADv4_1_nhomalt_joint_XX=1281;gnomADv4_1_nhomalt_joint_XY=1060;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29577954 chr22_29577954_A_G A G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=3.63;CADD_Rawscore=0.332329;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+3031T>C|||||||rs460994||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29577954A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+2145T>C|||||||rs460994||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29577954A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+3234T>C|||||||rs460994||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29577954A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+3031T>C|||||||rs460994||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29577954A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs460994|1803|-1||HGNC|HGNC:7827|3||||||||Ensembl||A|A||||chr22:g.29577954A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+3031T>C|||||||rs460994||-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29577954A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+3091T>C|||||||rs460994||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29577954A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+3031T>C|||||||rs460994||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29577954A>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|-22|32|-14|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30658;gnomADv4_1_AC_joint_XX=15742;gnomADv4_1_AC_joint_XY=14916;gnomADv4_1_AF_grpmax_joint=0.582292;gnomADv4_1_AF_joint=0.213246;gnomADv4_1_AF_joint_XX=0.2125;gnomADv4_1_AF_joint_XY=0.21404;gnomADv4_1_AN_grpmax_joint=4800;gnomADv4_1_AN_joint=143768;gnomADv4_1_AN_joint_XX=74080;gnomADv4_1_AN_joint_XY=69688;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3813;gnomADv4_1_nhomalt_joint_XX=1951;gnomADv4_1_nhomalt_joint_XY=1862;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29578842 chr22_29578842_A_G A G 62 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=62;CADD_PHREDscore=1.599;CADD_Rawscore=0.104899;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+2143T>C|||||||rs462444||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29578842A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+1257T>C|||||||rs462444||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29578842A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+2346T>C|||||||rs462444||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29578842A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+2143T>C|||||||rs462444||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29578842A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs462444|915|-1||HGNC|HGNC:7827|3||||||||Ensembl||A|A||||chr22:g.29578842A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+2143T>C|||||||rs462444||-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29578842A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+2203T>C|||||||rs462444||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29578842A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+2143T>C|||||||rs462444||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29578842A>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|2|4|34|37;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118162;gnomADv4_1_AC_joint_XX=60432;gnomADv4_1_AC_joint_XY=57730;gnomADv4_1_AF_grpmax_joint=0.863413;gnomADv4_1_AF_joint=0.783266;gnomADv4_1_AF_joint_XX=0.783366;gnomADv4_1_AF_joint_XY=0.783162;gnomADv4_1_AN_grpmax_joint=40348;gnomADv4_1_AN_joint=150858;gnomADv4_1_AN_joint_XX=77144;gnomADv4_1_AN_joint_XY=73714;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=47103;gnomADv4_1_nhomalt_joint_XX=24090;gnomADv4_1_nhomalt_joint_XY=23013;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29578890 chr22_29578890_G_A G A 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=3.774;CADD_Rawscore=0.345135;CSQ=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+2095C>T|||||||rs465938||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29578890G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+1209C>T|||||||rs465938||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29578890G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+2298C>T|||||||rs465938||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29578890G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+2095C>T|||||||rs465938||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29578890G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs465938|867|-1||HGNC|HGNC:7827|3||||||||Ensembl||G|G||||chr22:g.29578890G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+2095C>T|||||||rs465938||-1||HGNC|HGNC:7827|2||||||||Ensembl||G|G||||chr22:g.29578890G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+2155C>T|||||||rs465938||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29578890G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+2095C>T|||||||rs465938||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29578890G>A|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.00|0.00|-3|27|28|-14;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81184;gnomADv4_1_AC_joint_XX=41027;gnomADv4_1_AC_joint_XY=40157;gnomADv4_1_AF_grpmax_joint=0.660862;gnomADv4_1_AF_joint=0.539393;gnomADv4_1_AF_joint_XX=0.533261;gnomADv4_1_AF_joint_XY=0.545804;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=150510;gnomADv4_1_AN_joint_XX=76936;gnomADv4_1_AN_joint_XY=73574;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=22884;gnomADv4_1_nhomalt_joint_XX=11417;gnomADv4_1_nhomalt_joint_XY=11467;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29579116 chr22_29579116_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.759;CADD_Rawscore=0.13005;CSQ=A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+1869C>T|||||||rs433194||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29579116G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+983C>T|||||||rs433194||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29579116G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+2072C>T|||||||rs433194||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29579116G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+1869C>T|||||||rs433194||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29579116G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs433194|641|-1||HGNC|HGNC:7827|3||||||||Ensembl||G|G||||chr22:g.29579116G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+1869C>T|||||||rs433194||-1||HGNC|HGNC:7827|2||||||||Ensembl||G|G||||chr22:g.29579116G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+1929C>T|||||||rs433194||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29579116G>A|||||||||||||,A|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+1869C>T|||||||rs433194||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29579116G>A|||||||||||||;SpliceAI=A|NIPSNAP1|0.00|0.00|0.00|0.00|-16|40|2|-2;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=117965;gnomADv4_1_AC_joint_XX=60315;gnomADv4_1_AC_joint_XY=57650;gnomADv4_1_AF_grpmax_joint=0.870654;gnomADv4_1_AF_joint=0.786507;gnomADv4_1_AF_joint_XX=0.786252;gnomADv4_1_AF_joint_XY=0.786773;gnomADv4_1_AN_grpmax_joint=39808;gnomADv4_1_AN_joint=149986;gnomADv4_1_AN_joint_XX=76712;gnomADv4_1_AN_joint_XY=73274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=47199;gnomADv4_1_nhomalt_joint_XX=24123;gnomADv4_1_nhomalt_joint_XY=23076;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29579289 chr22_29579289_CT_C CT C 24 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=24;CADDIndel_PHREDscore=1.575;CADDIndel_Rawscore=0.10088;CSQ=-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+1695del|||||||rs34084606||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29579313del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+809del|||||||rs34084606||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29579313del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+1898del|||||||rs34084606||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29579313del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+1695del|||||||rs34084606||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29579313del|||||||||||||,-|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs34084606|467|-1||HGNC|HGNC:7827|3||||||||Ensembl||T|T||||chr22:g.29579313del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+1695del|||||||rs34084606||-1||HGNC|HGNC:7827|2||||||||Ensembl||T|T||||chr22:g.29579313del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+1755del|||||||rs34084606||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29579313del|||||||||||||,-|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+1695del|||||||rs34084606||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29579313del|||||||||||||;SpliceAI=C|NIPSNAP1|0.00|0.00|0.00|0.00|-49|1|40|1;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26178;gnomADv4_1_AC_joint_XX=14638;gnomADv4_1_AC_joint_XY=11540;gnomADv4_1_AF_grpmax_joint=0.515903;gnomADv4_1_AF_joint=0.452281;gnomADv4_1_AF_joint_XX=0.453638;gnomADv4_1_AF_joint_XY=0.45057;gnomADv4_1_AN_grpmax_joint=1572;gnomADv4_1_AN_joint=57880;gnomADv4_1_AN_joint_XX=32268;gnomADv4_1_AN_joint_XY=25612;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2549;gnomADv4_1_nhomalt_joint_XX=1287;gnomADv4_1_nhomalt_joint_XY=1262;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29579458 chr22_29579458_A_G A G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.064;CADD_Rawscore=-0.732371;CSQ=G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||1/9|ENST00000216121.12:c.98+1527T>C|||||||rs9608783||-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29579458A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||2/7|ENST00000415100.5:c.147+641T>C|||||||rs9608783||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29579458A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||1/7|ENST00000437094.5:c.-308+1730T>C|||||||rs9608783||-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29579458A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||1/6|ENST00000455496.1:c.98+1527T>C|||||||rs9608783||-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29579458A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs9608783|299|-1||HGNC|HGNC:7827|3||||||||Ensembl||A|A||||chr22:g.29579458A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||1/2|ENST00000496944.1:n.116+1527T>C|||||||rs9608783||-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29579458A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||1/9|NM_001202502.2:c.38+1587T>C|||||||rs9608783||-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29579458A>G|||||||||||||,G|intron_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||1/9|NM_003634.4:c.98+1527T>C|||||||rs9608783||-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29579458A>G|||||||||||||;SpliceAI=G|NIPSNAP1|0.00|0.00|0.00|0.00|1|-15|16|39;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118307;gnomADv4_1_AC_joint_XX=60568;gnomADv4_1_AC_joint_XY=57739;gnomADv4_1_AF_grpmax_joint=0.87699;gnomADv4_1_AF_joint=0.78737;gnomADv4_1_AF_joint_XX=0.787497;gnomADv4_1_AF_joint_XY=0.787235;gnomADv4_1_AN_grpmax_joint=40712;gnomADv4_1_AN_joint=150256;gnomADv4_1_AN_joint_XX=76912;gnomADv4_1_AN_joint_XY=73344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=47074;gnomADv4_1_nhomalt_joint_XX=24099;gnomADv4_1_nhomalt_joint_XY=22975;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29581354 chr22_29581354_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=3.196;CADD_Rawscore=0.292935;CSQ=A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs457765|241|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29581354G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs457765|280|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29581354G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs457765|27|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29581354G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs457765|261|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29581354G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs457765|328|-1||HGNC|HGNC:7827|3||||||||Ensembl||G|G||||chr22:g.29581354G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs457765|254|-1||HGNC|HGNC:7827|2||||||||Ensembl||G|G||||chr22:g.29581354G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs457765|241|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29581354G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs457765|241|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29581354G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FQ2F|promoter||||||||||rs457765|||||||||||||||||||||chr22:g.29581354G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4,ENSR22_9FQ2F;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508,.;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111262;gnomADv4_1_AC_joint_XX=55765;gnomADv4_1_AC_joint_XY=55497;gnomADv4_1_AF_grpmax_joint=0.610928;gnomADv4_1_AF_joint=0.463171;gnomADv4_1_AF_joint_XX=0.46083;gnomADv4_1_AF_joint_XY=0.465548;gnomADv4_1_AN_grpmax_joint=8492;gnomADv4_1_AN_joint=240218;gnomADv4_1_AN_joint_XX=121010;gnomADv4_1_AN_joint_XY=119208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28053;gnomADv4_1_nhomalt_joint_XX=13852;gnomADv4_1_nhomalt_joint_XY=14201;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29581357 chr22_29581357_C_CTT C CTT 20 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=20;CADDIndel_PHREDscore=4.867;CADDIndel_Rawscore=0.443493;CSQ=TT|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs35129442|244|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl|||||||chr22:g.29581379_29581380dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs35129442|283|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl|||||||chr22:g.29581379_29581380dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs35129442|30|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl|||||||chr22:g.29581379_29581380dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs35129442|264|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl|||||||chr22:g.29581379_29581380dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs35129442|331|-1||HGNC|HGNC:7827|3||||||||Ensembl|||||||chr22:g.29581379_29581380dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs35129442|257|-1||HGNC|HGNC:7827|2||||||||Ensembl|||||||chr22:g.29581379_29581380dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs35129442|244|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq|||||||chr22:g.29581379_29581380dup|||||||||||||,TT|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs35129442|244|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq|||||||chr22:g.29581379_29581380dup|||||||||||||,TT|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FQ2F|promoter||||||||||rs35129442|||||||||||||||||||||chr22:g.29581379_29581380dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4,ENSR22_9FQ2F;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508,.;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43872;gnomADv4_1_AC_joint_XX=23964;gnomADv4_1_AC_joint_XY=19908;gnomADv4_1_AF_grpmax_joint=0.515454;gnomADv4_1_AF_joint=0.426629;gnomADv4_1_AF_joint_XX=0.43261;gnomADv4_1_AF_joint_XY=0.419646;gnomADv4_1_AN_grpmax_joint=22324;gnomADv4_1_AN_joint=102834;gnomADv4_1_AN_joint_XX=55394;gnomADv4_1_AN_joint_XY=47440;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11001;gnomADv4_1_nhomalt_joint_XX=5902;gnomADv4_1_nhomalt_joint_XY=5099;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29581589 chr22_29581589_C_T C T 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.334;CADD_Rawscore=0.057242;CSQ=T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs13057041|476|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29581589C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs13057041|515|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29581589C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs13057041|262|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29581589C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs13057041|496|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29581589C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs13057041|563|-1||HGNC|HGNC:7827|3||||||||Ensembl||C|C||||chr22:g.29581589C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs13057041|489|-1||HGNC|HGNC:7827|2||||||||Ensembl||C|C||||chr22:g.29581589C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs13057041|476|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29581589C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs13057041|476|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29581589C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FQ2F|promoter||||||||||rs13057041|||||||||||||||||||||chr22:g.29581589C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4,ENSR22_9FQ2F;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508,.;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40133;gnomADv4_1_AC_joint_XX=21023;gnomADv4_1_AC_joint_XY=19110;gnomADv4_1_AF_grpmax_joint=0.287585;gnomADv4_1_AF_joint=0.264353;gnomADv4_1_AF_joint_XX=0.270824;gnomADv4_1_AF_joint_XY=0.257582;gnomADv4_1_AN_grpmax_joint=41386;gnomADv4_1_AN_joint=151816;gnomADv4_1_AN_joint_XX=77626;gnomADv4_1_AN_joint_XY=74190;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5414;gnomADv4_1_nhomalt_joint_XX=2858;gnomADv4_1_nhomalt_joint_XY=2556;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29581613 chr22_29581613_C_A C A 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=5.975;CADD_Rawscore=0.550655;CSQ=A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs12484392|500|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29581613C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs12484392|539|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29581613C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs12484392|286|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29581613C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs12484392|520|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29581613C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs12484392|587|-1||HGNC|HGNC:7827|3||||||||Ensembl||C|C||||chr22:g.29581613C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs12484392|513|-1||HGNC|HGNC:7827|2||||||||Ensembl||C|C||||chr22:g.29581613C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs12484392|500|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29581613C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs12484392|500|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29581613C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35860;gnomADv4_1_AC_joint_XX=18787;gnomADv4_1_AC_joint_XY=17073;gnomADv4_1_AF_grpmax_joint=0.285456;gnomADv4_1_AF_joint=0.235887;gnomADv4_1_AF_joint_XX=0.241714;gnomADv4_1_AF_joint_XY=0.229791;gnomADv4_1_AN_grpmax_joint=67972;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4371;gnomADv4_1_nhomalt_joint_XX=2313;gnomADv4_1_nhomalt_joint_XY=2058;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29582037 chr22_29582037_A_T A T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.102;CADD_Rawscore=0.00728;CSQ=T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs458196|924|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29582037A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs458196|963|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29582037A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs458196|710|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29582037A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs458196|944|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29582037A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs458196|1011|-1||HGNC|HGNC:7827|3||||||||Ensembl||A|A||||chr22:g.29582037A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs458196|937|-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29582037A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs458196|924|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29582037A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs458196|924|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29582037A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22549;gnomADv4_1_AC_joint_XX=11474;gnomADv4_1_AC_joint_XY=11075;gnomADv4_1_AF_grpmax_joint=0.569428;gnomADv4_1_AF_joint=0.148267;gnomADv4_1_AF_joint_XX=0.147625;gnomADv4_1_AF_joint_XY=0.148938;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2386;gnomADv4_1_nhomalt_joint_XX=1199;gnomADv4_1_nhomalt_joint_XY=1187;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29582342 chr22_29582342_A_AGGCG A AGGCG 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=1.073;CADDIndel_Rawscore=0.00053;CSQ=GGCG|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs56390222|1229|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl|||||||chr22:g.29582344_29582345insCGGG|||||||||||||,GGCG|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs56390222|1268|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl|||||||chr22:g.29582344_29582345insCGGG|||||||||||||,GGCG|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs56390222|1015|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl|||||||chr22:g.29582344_29582345insCGGG|||||||||||||,GGCG|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs56390222|1249|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl|||||||chr22:g.29582344_29582345insCGGG|||||||||||||,GGCG|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs56390222|1316|-1||HGNC|HGNC:7827|3||||||||Ensembl|||||||chr22:g.29582344_29582345insCGGG|||||||||||||,GGCG|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs56390222|1242|-1||HGNC|HGNC:7827|2||||||||Ensembl|||||||chr22:g.29582344_29582345insCGGG|||||||||||||,GGCG|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs56390222|1229|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq|||||||chr22:g.29582344_29582345insCGGG|||||||||||||,GGCG|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs56390222|1229|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq|||||||chr22:g.29582344_29582345insCGGG|||||||||||||;TYPE=INDEL;VEP_Allele=GGCG,GGCG,GGCG,GGCG,GGCG,GGCG,GGCG,GGCG;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40014;gnomADv4_1_AC_joint_XX=20981;gnomADv4_1_AC_joint_XY=19033;gnomADv4_1_AF_grpmax_joint=0.286556;gnomADv4_1_AF_joint=0.263496;gnomADv4_1_AF_joint_XX=0.270234;gnomADv4_1_AF_joint_XY=0.256447;gnomADv4_1_AN_grpmax_joint=41416;gnomADv4_1_AN_joint=151858;gnomADv4_1_AN_joint_XX=77640;gnomADv4_1_AN_joint_XY=74218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5341;gnomADv4_1_nhomalt_joint_XX=2827;gnomADv4_1_nhomalt_joint_XY=2514;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29582760 chr22_29582760_C_G C G 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.346;CADD_Rawscore=-0.286117;CSQ=G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs16987832|1647|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29582760C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs16987832|1686|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29582760C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs16987832|1433|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29582760C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs16987832|1667|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29582760C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs16987832|1734|-1||HGNC|HGNC:7827|3||||||||Ensembl||C|C||||chr22:g.29582760C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs16987832|1660|-1||HGNC|HGNC:7827|2||||||||Ensembl||C|C||||chr22:g.29582760C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs16987832|1647|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29582760C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs16987832|1647|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29582760C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22575;gnomADv4_1_AC_joint_XX=11484;gnomADv4_1_AC_joint_XY=11091;gnomADv4_1_AF_grpmax_joint=0.567557;gnomADv4_1_AF_joint=0.148364;gnomADv4_1_AF_joint_XX=0.147659;gnomADv4_1_AF_joint_XY=0.149101;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2396;gnomADv4_1_nhomalt_joint_XX=1206;gnomADv4_1_nhomalt_joint_XY=1190;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29582769 chr22_29582769_C_G C G 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.586;CADD_Rawscore=0.102691;CSQ=G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs5763347|1656|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29582769C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs5763347|1695|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29582769C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs5763347|1442|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29582769C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs5763347|1676|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29582769C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs5763347|1743|-1||HGNC|HGNC:7827|3||||||||Ensembl||C|C||||chr22:g.29582769C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs5763347|1669|-1||HGNC|HGNC:7827|2||||||||Ensembl||C|C||||chr22:g.29582769C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs5763347|1656|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29582769C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs5763347|1656|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29582769C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=134423;gnomADv4_1_AC_joint_XX=68786;gnomADv4_1_AC_joint_XY=65637;gnomADv4_1_AF_grpmax_joint=0.950503;gnomADv4_1_AF_joint=0.882863;gnomADv4_1_AF_joint_XX=0.883912;gnomADv4_1_AF_joint_XY=0.881767;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152258;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=59471;gnomADv4_1_nhomalt_joint_XX=30472;gnomADv4_1_nhomalt_joint_XY=28999;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29583070 chr22_29583070_C_T C T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.408;CADD_Rawscore=-0.244143;CSQ=T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs5763348|1957|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29583070C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs5763348|1996|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29583070C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs5763348|1743|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29583070C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs5763348|1977|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29583070C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs5763348|2044|-1||HGNC|HGNC:7827|3||||||||Ensembl||C|C||||chr22:g.29583070C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs5763348|1970|-1||HGNC|HGNC:7827|2||||||||Ensembl||C|C||||chr22:g.29583070C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs5763348|1957|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29583070C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs5763348|1957|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29583070C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=136067;gnomADv4_1_AC_joint_XX=69696;gnomADv4_1_AC_joint_XY=66371;gnomADv4_1_AF_grpmax_joint=0.970377;gnomADv4_1_AF_joint=0.893919;gnomADv4_1_AF_joint_XX=0.895812;gnomADv4_1_AF_joint_XY=0.891939;gnomADv4_1_AN_grpmax_joint=41556;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=61065;gnomADv4_1_nhomalt_joint_XX=31349;gnomADv4_1_nhomalt_joint_XY=29716;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29583472 chr22_29583472_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.428;CADD_Rawscore=0.075178;CSQ=A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs5763349|2359|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29583472G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs5763349|2398|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29583472G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs5763349|2145|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29583472G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs5763349|2379|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29583472G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs5763349|2446|-1||HGNC|HGNC:7827|3||||||||Ensembl||G|G||||chr22:g.29583472G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs5763349|2372|-1||HGNC|HGNC:7827|2||||||||Ensembl||G|G||||chr22:g.29583472G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs5763349|2359|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29583472G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs5763349|2359|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29583472G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31921;gnomADv4_1_AC_joint_XX=16315;gnomADv4_1_AC_joint_XY=15606;gnomADv4_1_AF_grpmax_joint=0.591103;gnomADv4_1_AF_joint=0.209755;gnomADv4_1_AF_joint_XX=0.209737;gnomADv4_1_AF_joint_XY=0.209775;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=152182;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3928;gnomADv4_1_nhomalt_joint_XX=2000;gnomADv4_1_nhomalt_joint_XY=1928;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29583816 chr22_29583816_A_G A G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.627;CADD_Rawscore=-0.136476;CSQ=G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs12172347|2703|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29583816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs12172347|2742|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29583816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs12172347|2489|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29583816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs12172347|2723|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29583816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs12172347|2790|-1||HGNC|HGNC:7827|3||||||||Ensembl||A|A||||chr22:g.29583816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs12172347|2716|-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29583816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs12172347|2703|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29583816A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs12172347|2703|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29583816A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40242;gnomADv4_1_AC_joint_XX=21077;gnomADv4_1_AC_joint_XY=19165;gnomADv4_1_AF_grpmax_joint=0.28838;gnomADv4_1_AF_joint=0.264917;gnomADv4_1_AF_joint_XX=0.271499;gnomADv4_1_AF_joint_XY=0.258038;gnomADv4_1_AN_grpmax_joint=41428;gnomADv4_1_AN_joint=151904;gnomADv4_1_AN_joint_XX=77632;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5448;gnomADv4_1_nhomalt_joint_XX=2874;gnomADv4_1_nhomalt_joint_XY=2574;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29584061 chr22_29584061_T_TAGAG T TAGAG 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADDIndel_PHREDscore=0.371;CADDIndel_Rawscore=-0.268199;CSQ=AGAG|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs34821220|2948|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl|||||||chr22:g.29584063_29584066dup|||||||||||||,AGAG|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs34821220|2987|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl|||||||chr22:g.29584063_29584066dup|||||||||||||,AGAG|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs34821220|2734|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl|||||||chr22:g.29584063_29584066dup|||||||||||||,AGAG|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs34821220|2968|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl|||||||chr22:g.29584063_29584066dup|||||||||||||,AGAG|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs34821220|3035|-1||HGNC|HGNC:7827|3||||||||Ensembl|||||||chr22:g.29584063_29584066dup|||||||||||||,AGAG|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs34821220|2961|-1||HGNC|HGNC:7827|2||||||||Ensembl|||||||chr22:g.29584063_29584066dup|||||||||||||,AGAG|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs34821220|2948|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq|||||||chr22:g.29584063_29584066dup|||||||||||||,AGAG|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs34821220|2948|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq|||||||chr22:g.29584063_29584066dup|||||||||||||;TYPE=INDEL;VEP_Allele=AGAG,AGAG,AGAG,AGAG,AGAG,AGAG,AGAG,AGAG;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39061;gnomADv4_1_AC_joint_XX=20585;gnomADv4_1_AC_joint_XY=18476;gnomADv4_1_AF_grpmax_joint=0.288481;gnomADv4_1_AF_joint=0.26463;gnomADv4_1_AF_joint_XX=0.271548;gnomADv4_1_AF_joint_XY=0.257326;gnomADv4_1_AN_grpmax_joint=39864;gnomADv4_1_AN_joint=147606;gnomADv4_1_AN_joint_XX=75806;gnomADv4_1_AN_joint_XY=71800;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5262;gnomADv4_1_nhomalt_joint_XX=2790;gnomADv4_1_nhomalt_joint_XY=2472;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29584326 chr22_29584326_C_T C T 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=2.262;CADD_Rawscore=0.196719;CSQ=T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs9613968|3213|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29584326C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs9613968|3252|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29584326C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs9613968|2999|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29584326C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs9613968|3233|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29584326C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs9613968|3300|-1||HGNC|HGNC:7827|3||||||||Ensembl||C|C||||chr22:g.29584326C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs9613968|3226|-1||HGNC|HGNC:7827|2||||||||Ensembl||C|C||||chr22:g.29584326C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs9613968|3213|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29584326C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs9613968|3213|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29584326C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=75029;gnomADv4_1_AC_joint_XX=38939;gnomADv4_1_AC_joint_XY=36090;gnomADv4_1_AF_grpmax_joint=0.754658;gnomADv4_1_AF_joint=0.494751;gnomADv4_1_AF_joint_XX=0.50205;gnomADv4_1_AF_joint_XY=0.48711;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151650;gnomADv4_1_AN_joint_XX=77560;gnomADv4_1_AN_joint_XY=74090;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18885;gnomADv4_1_nhomalt_joint_XX=9879;gnomADv4_1_nhomalt_joint_XY=9006;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29584656 chr22_29584656_CA_C CA C 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADDIndel_PHREDscore=0.235;CADDIndel_Rawscore=-0.384968;CSQ=-|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs778334323|3544|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||A|A||||chr22:g.29584681del|||||||||||||,-|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs778334323|3583|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||A|A||||chr22:g.29584681del|||||||||||||,-|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs778334323|3330|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29584681del|||||||||||||,-|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs778334323|3564|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||A|A||||chr22:g.29584681del|||||||||||||,-|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs778334323|3631|-1||HGNC|HGNC:7827|3||||||||Ensembl||A|A||||chr22:g.29584681del|||||||||||||,-|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs778334323|3557|-1||HGNC|HGNC:7827|2||||||||Ensembl||A|A||||chr22:g.29584681del|||||||||||||,-|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs778334323|3544|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||A|A||||chr22:g.29584681del|||||||||||||,-|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs778334323|3544|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||A|A||||chr22:g.29584681del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8454;gnomADv4_1_AC_joint_XX=4766;gnomADv4_1_AC_joint_XY=3688;gnomADv4_1_AF_grpmax_joint=0.435967;gnomADv4_1_AF_joint=0.182253;gnomADv4_1_AF_joint_XX=0.183519;gnomADv4_1_AF_joint_XY=0.180643;gnomADv4_1_AN_grpmax_joint=1468;gnomADv4_1_AN_joint=46386;gnomADv4_1_AN_joint_XX=25970;gnomADv4_1_AN_joint_XY=20416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=149;gnomADv4_1_nhomalt_joint_XX=74;gnomADv4_1_nhomalt_joint_XY=75;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29584719 chr22_29584719_C_A C A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=5.53;CADD_Rawscore=0.506465;CSQ=A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs150732777|3606|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||C|C||||chr22:g.29584719C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs150732777|3645|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||C|C||||chr22:g.29584719C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs150732777|3392|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||C|C||||chr22:g.29584719C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs150732777|3626|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||C|C||||chr22:g.29584719C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs150732777|3693|-1||HGNC|HGNC:7827|3||||||||Ensembl||C|C||||chr22:g.29584719C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs150732777|3619|-1||HGNC|HGNC:7827|2||||||||Ensembl||C|C||||chr22:g.29584719C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs150732777|3606|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||C|C||||chr22:g.29584719C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs150732777|3606|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||C|C||||chr22:g.29584719C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=466;gnomADv4_1_AC_joint_XX=262;gnomADv4_1_AC_joint_XY=204;gnomADv4_1_AF_grpmax_joint=0.00559959;gnomADv4_1_AF_joint=0.00322679;gnomADv4_1_AF_joint_XX=0.00350539;gnomADv4_1_AF_joint_XY=0.00292792;gnomADv4_1_AN_grpmax_joint=66612;gnomADv4_1_AN_joint=144416;gnomADv4_1_AN_joint_XX=74742;gnomADv4_1_AN_joint_XY=69674;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29584795 chr22_29584795_C_CT C CT 29 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=29;CADDIndel_PHREDscore=0.379;CADDIndel_Rawscore=-0.262796;CSQ=T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs971430901|3682|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl|||||||chr22:g.29584815dup|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs971430901|3721|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl|||||||chr22:g.29584815dup|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs971430901|3468|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl|||||||chr22:g.29584815dup|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs971430901|3702|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl|||||||chr22:g.29584815dup|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs971430901|3769|-1||HGNC|HGNC:7827|3||||||||Ensembl|||||||chr22:g.29584815dup|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs971430901|3695|-1||HGNC|HGNC:7827|2||||||||Ensembl|||||||chr22:g.29584815dup|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs971430901|3682|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq|||||||chr22:g.29584815dup|||||||||||||,T|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs971430901|3682|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq|||||||chr22:g.29584815dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27467;gnomADv4_1_AC_joint_XX=15270;gnomADv4_1_AC_joint_XY=12197;gnomADv4_1_AF_grpmax_joint=0.268469;gnomADv4_1_AF_joint=0.242149;gnomADv4_1_AF_joint_XX=0.253798;gnomADv4_1_AF_joint_XY=0.228991;gnomADv4_1_AN_grpmax_joint=56066;gnomADv4_1_AN_joint=113430;gnomADv4_1_AN_joint_XX=60166;gnomADv4_1_AN_joint_XY=53264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4155;gnomADv4_1_nhomalt_joint_XX=2321;gnomADv4_1_nhomalt_joint_XY=1834;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29585145 chr22_29585145_T_C T C 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=7.432;CADD_Rawscore=0.7055;CSQ=C|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs9613970|4032|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||T|T||||chr22:g.29585145T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs9613970|4071|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||T|T||||chr22:g.29585145T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs9613970|3818|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||T|T||||chr22:g.29585145T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs9613970|4052|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||T|T||||chr22:g.29585145T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs9613970|4119|-1||HGNC|HGNC:7827|3||||||||Ensembl||T|T||||chr22:g.29585145T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs9613970|4045|-1||HGNC|HGNC:7827|2||||||||Ensembl||T|T||||chr22:g.29585145T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs9613970|4032|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||T|T||||chr22:g.29585145T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs9613970|4032|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||T|T||||chr22:g.29585145T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37197;gnomADv4_1_AC_joint_XX=19521;gnomADv4_1_AC_joint_XY=17676;gnomADv4_1_AF_grpmax_joint=0.285578;gnomADv4_1_AF_joint=0.244659;gnomADv4_1_AF_joint_XX=0.251197;gnomADv4_1_AF_joint_XY=0.237824;gnomADv4_1_AN_grpmax_joint=67950;gnomADv4_1_AN_joint=152036;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4637;gnomADv4_1_nhomalt_joint_XX=2464;gnomADv4_1_nhomalt_joint_XY=2173;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29585187 chr22_29585187_G_A G A 56 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.173;CADD_Rawscore=-0.465224;CSQ=A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs111543952|4074|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29585187G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs111543952|4113|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29585187G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs111543952|3860|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29585187G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs111543952|4094|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29585187G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs111543952|4161|-1||HGNC|HGNC:7827|3||||||||Ensembl||G|G||||chr22:g.29585187G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs111543952|4087|-1||HGNC|HGNC:7827|2||||||||Ensembl||G|G||||chr22:g.29585187G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs111543952|4074|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29585187G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs111543952|4074|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29585187G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4;gnomADv4_1_AC_joint_XX=4;gnomADv4_1_AC_joint_XY=0;gnomADv4_1_AF_grpmax_joint=2.41161e-05;gnomADv4_1_AF_joint=2.62805e-05;gnomADv4_1_AF_joint_XX=5.13769e-05;gnomADv4_1_AF_joint_XY=0.0;gnomADv4_1_AN_grpmax_joint=41466;gnomADv4_1_AN_joint=152204;gnomADv4_1_AN_joint_XX=77856;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29585255 chr22_29585255_G_C G C 57 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=8.234;CADD_Rawscore=0.794398;CSQ=C|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs9613971|4142|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29585255G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs9613971|4181|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29585255G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs9613971|3928|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29585255G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs9613971|4162|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29585255G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs9613971|4229|-1||HGNC|HGNC:7827|3||||||||Ensembl||G|G||||chr22:g.29585255G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs9613971|4155|-1||HGNC|HGNC:7827|2||||||||Ensembl||G|G||||chr22:g.29585255G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs9613971|4142|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29585255G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs9613971|4142|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29585255G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40191;gnomADv4_1_AC_joint_XX=21058;gnomADv4_1_AC_joint_XY=19133;gnomADv4_1_AF_grpmax_joint=0.287515;gnomADv4_1_AF_joint=0.264279;gnomADv4_1_AF_joint_XX=0.270822;gnomADv4_1_AF_joint_XY=0.257434;gnomADv4_1_AN_grpmax_joint=41490;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5430;gnomADv4_1_nhomalt_joint_XX=2867;gnomADv4_1_nhomalt_joint_XY=2563;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29585335 chr22_29585335_G_A G A 54 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.303;CADD_Rawscore=0.051158;CSQ=A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs9613972|4222|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl||G|G||||chr22:g.29585335G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs9613972|4261|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl||G|G||||chr22:g.29585335G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs9613972|4008|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||G|G||||chr22:g.29585335G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs9613972|4242|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl||G|G||||chr22:g.29585335G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs9613972|4309|-1||HGNC|HGNC:7827|3||||||||Ensembl||G|G||||chr22:g.29585335G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs9613972|4235|-1||HGNC|HGNC:7827|2||||||||Ensembl||G|G||||chr22:g.29585335G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs9613972|4222|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq||G|G||||chr22:g.29585335G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs9613972|4222|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq||G|G||||chr22:g.29585335G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19843;gnomADv4_1_AC_joint_XX=10430;gnomADv4_1_AC_joint_XY=9413;gnomADv4_1_AF_grpmax_joint=0.184469;gnomADv4_1_AF_joint=0.130431;gnomADv4_1_AF_joint_XX=0.134144;gnomADv4_1_AF_joint_XY=0.126549;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=152134;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1527;gnomADv4_1_nhomalt_joint_XX=855;gnomADv4_1_nhomalt_joint_XY=672;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29585570 chr22_29585570_A_ACCACATATCCCAGTTTAT A ACCACATATCCCAGTTTAT 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.918;CADDIndel_Rawscore=-0.039945;CSQ=CCACATATCCCAGTTTAT|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000216121|protein_coding||||||||||rs59530014|4457|-1||HGNC|HGNC:7827|1|CCDS13860.1|ENSP00000216121|Q9BPW8.176||UPI00001303FF|||Ensembl|||||||chr22:g.29585573_29585590dup|||||||||||||,CCACATATCCCAGTTTAT|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000415100|protein_coding||||||||||rs59530014|4496|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:7827|5||ENSP00000407851||H7C2U6.55|UPI000173A304|||Ensembl|||||||chr22:g.29585573_29585590dup|||||||||||||,CCACATATCCCAGTTTAT|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs59530014|4243|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl|||||||chr22:g.29585573_29585590dup|||||||||||||,CCACATATCCCAGTTTAT|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000455496|nonsense_mediated_decay||||||||||rs59530014|4477|-1||HGNC|HGNC:7827|3||ENSP00000404227||F8WCR5.65|UPI000173A305|||Ensembl|||||||chr22:g.29585573_29585590dup|||||||||||||,CCACATATCCCAGTTTAT|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000494966|protein_coding_CDS_not_defined||||||||||rs59530014|4544|-1||HGNC|HGNC:7827|3||||||||Ensembl|||||||chr22:g.29585573_29585590dup|||||||||||||,CCACATATCCCAGTTTAT|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000496944|retained_intron||||||||||rs59530014|4470|-1||HGNC|HGNC:7827|2||||||||Ensembl|||||||chr22:g.29585573_29585590dup|||||||||||||,CCACATATCCCAGTTTAT|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_001202502.2|protein_coding||||||||||rs59530014|4457|-1||EntrezGene|HGNC:7827|||NP_001189431.1||||||RefSeq|||||||chr22:g.29585573_29585590dup|||||||||||||,CCACATATCCCAGTTTAT|upstream_gene_variant|MODIFIER|NIPSNAP1|8508|Transcript|NM_003634.4|protein_coding||||||||||rs59530014|4457|-1||EntrezGene|HGNC:7827|||NP_003625.2||||||RefSeq|||||||chr22:g.29585573_29585590dup|||||||||||||;TYPE=INDEL;VEP_Allele=CCACATATCCCAGTTTAT,CCACATATCCCAGTTTAT,CCACATATCCCAGTTTAT,CCACATATCCCAGTTTAT,CCACATATCCCAGTTTAT,CCACATATCCCAGTTTAT,CCACATATCCCAGTTTAT,CCACATATCCCAGTTTAT;VEP_Feature=ENST00000216121,ENST00000415100,ENST00000437094,ENST00000455496,ENST00000494966,ENST00000496944,NM_001202502.2,NM_003634.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,ENSG00000184117,8508,8508;VEP_SYMBOL=NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1,NIPSNAP1;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33270;gnomADv4_1_AC_joint_XX=17096;gnomADv4_1_AC_joint_XY=16174;gnomADv4_1_AF_grpmax_joint=0.589342;gnomADv4_1_AF_joint=0.219926;gnomADv4_1_AF_joint_XX=0.220833;gnomADv4_1_AF_joint_XY=0.218976;gnomADv4_1_AN_grpmax_joint=5048;gnomADv4_1_AN_joint=151278;gnomADv4_1_AN_joint_XX=77416;gnomADv4_1_AN_joint_XY=73862;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4293;gnomADv4_1_nhomalt_joint_XX=2208;gnomADv4_1_nhomalt_joint_XY=2085;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29586211 chr22_29586211_A_G A G 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=3.584;CADD_Rawscore=0.328201;CSQ=G|upstream_gene_variant|MODIFIER|NIPSNAP1|ENSG00000184117|Transcript|ENST00000437094|protein_coding||||||||||rs112401168|4884|-1|cds_end_NF|HGNC|HGNC:7827|3||ENSP00000403448||C9JDV8.76|UPI00053BD5F9|||Ensembl||A|A||||chr22:g.29586211A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000437094;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000184117;VEP_SYMBOL=NIPSNAP1;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35886;gnomADv4_1_AC_joint_XX=18819;gnomADv4_1_AC_joint_XY=17067;gnomADv4_1_AF_grpmax_joint=0.285605;gnomADv4_1_AF_joint=0.237119;gnomADv4_1_AF_joint_XX=0.243083;gnomADv4_1_AF_joint_XY=0.230872;gnomADv4_1_AN_grpmax_joint=67702;gnomADv4_1_AN_joint=151342;gnomADv4_1_AN_joint_XX=77418;gnomADv4_1_AN_joint_XY=73924;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4390;gnomADv4_1_nhomalt_joint_XX=2325;gnomADv4_1_nhomalt_joint_XY=2065;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29586884 chr22_29586884_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.21;CADD_Rawscore=-0.414099;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs13055746|||||||||||||||||||||chr22:g.29586884C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35972;gnomADv4_1_AC_joint_XX=18859;gnomADv4_1_AC_joint_XY=17113;gnomADv4_1_AF_grpmax_joint=0.285645;gnomADv4_1_AF_joint=0.237389;gnomADv4_1_AF_joint_XX=0.243198;gnomADv4_1_AF_joint_XY=0.231301;gnomADv4_1_AN_grpmax_joint=67850;gnomADv4_1_AN_joint=151532;gnomADv4_1_AN_joint_XX=77546;gnomADv4_1_AN_joint_XY=73986;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4404;gnomADv4_1_nhomalt_joint_XX=2329;gnomADv4_1_nhomalt_joint_XY=2075;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29587149 chr22_29587149_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=4.353;CADD_Rawscore=0.396645;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs16987839|||||||||||||||||||||chr22:g.29587149G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33948;gnomADv4_1_AC_joint_XX=17400;gnomADv4_1_AC_joint_XY=16548;gnomADv4_1_AF_grpmax_joint=0.593059;gnomADv4_1_AF_joint=0.223648;gnomADv4_1_AF_joint_XX=0.2241;gnomADv4_1_AF_joint_XY=0.223175;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=151792;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74148;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4356;gnomADv4_1_nhomalt_joint_XX=2232;gnomADv4_1_nhomalt_joint_XY=2124;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29587331 chr22_29587331_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=5.628;CADD_Rawscore=0.516141;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs8141518|||||||||||||||||||||chr22:g.29587331C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33636;gnomADv4_1_AC_joint_XX=17235;gnomADv4_1_AC_joint_XY=16401;gnomADv4_1_AF_grpmax_joint=0.59403;gnomADv4_1_AF_joint=0.221698;gnomADv4_1_AF_joint_XX=0.222186;gnomADv4_1_AF_joint_XY=0.221187;gnomADv4_1_AN_grpmax_joint=5126;gnomADv4_1_AN_joint=151720;gnomADv4_1_AN_joint_XX=77570;gnomADv4_1_AN_joint_XY=74150;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4317;gnomADv4_1_nhomalt_joint_XX=2214;gnomADv4_1_nhomalt_joint_XY=2103;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29587534 chr22_29587534_CA_C;chr22_29587534_C_CAA;chr22_29587534_C_CA CA C 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=32;CADDIndel_PHREDscore=0.005;CADDIndel_Rawscore=-1.46854;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs34413367|||||||||||||||||||||chr22:g.29587556del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=22879;gnomADv4_1_AC_joint_XX=12586;gnomADv4_1_AC_joint_XY=10293;gnomADv4_1_AF_grpmax_joint=0.259763;gnomADv4_1_AF_joint=0.227204;gnomADv4_1_AF_joint_XX=0.233836;gnomADv4_1_AF_joint_XY=0.219589;gnomADv4_1_AN_grpmax_joint=53210;gnomADv4_1_AN_joint=100698;gnomADv4_1_AN_joint_XX=53824;gnomADv4_1_AN_joint_XY=46874;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1607;gnomADv4_1_nhomalt_joint_XX=887;gnomADv4_1_nhomalt_joint_XY=720;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29587534 chr22_29587534_CA_C;chr22_29587534_C_CAA;chr22_29587534_C_CA C CAA 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=32;CADDIndel_PHREDscore=0.045;CADDIndel_Rawscore=-0.83077;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||rs34413367|||||||||||||||||||||chr22:g.29587555_29587556dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=2993;gnomADv4_1_AC_joint_XX=1601;gnomADv4_1_AC_joint_XY=1392;gnomADv4_1_AF_grpmax_joint=0.113317;gnomADv4_1_AF_joint=0.0297515;gnomADv4_1_AF_joint_XX=0.0298038;gnomADv4_1_AF_joint_XY=0.0296916;gnomADv4_1_AN_grpmax_joint=22618;gnomADv4_1_AN_joint=100600;gnomADv4_1_AN_joint_XX=53718;gnomADv4_1_AN_joint_XY=46882;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=112;gnomADv4_1_nhomalt_joint_XX=60;gnomADv4_1_nhomalt_joint_XY=52;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29587534 chr22_29587534_CA_C;chr22_29587534_C_CAA;chr22_29587534_C_CA C CA 32 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=21;CADDIndel_PHREDscore=0.046;CADDIndel_Rawscore=-0.82591;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs34413367|||||||||||||||||||||chr22:g.29587556dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=23054;gnomADv4_1_AC_joint_XX=12456;gnomADv4_1_AC_joint_XY=10598;gnomADv4_1_AF_grpmax_joint=0.557212;gnomADv4_1_AF_joint=0.229741;gnomADv4_1_AF_joint_XX=0.232371;gnomADv4_1_AF_joint_XY=0.226724;gnomADv4_1_AN_grpmax_joint=3286;gnomADv4_1_AN_joint=100348;gnomADv4_1_AN_joint_XX=53604;gnomADv4_1_AN_joint_XY=46744;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2489;gnomADv4_1_nhomalt_joint_XX=1346;gnomADv4_1_nhomalt_joint_XY=1143;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29587672 chr22_29587672_A_T A T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.639;CADD_Rawscore=0.111409;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs9608785|||||||||||||||||||||chr22:g.29587672A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36165;gnomADv4_1_AC_joint_XX=18945;gnomADv4_1_AC_joint_XY=17220;gnomADv4_1_AF_grpmax_joint=0.28551;gnomADv4_1_AF_joint=0.238552;gnomADv4_1_AF_joint_XX=0.244319;gnomADv4_1_AF_joint_XY=0.232514;gnomADv4_1_AN_grpmax_joint=67896;gnomADv4_1_AN_joint=151602;gnomADv4_1_AN_joint_XX=77542;gnomADv4_1_AN_joint_XY=74060;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4427;gnomADv4_1_nhomalt_joint_XX=2347;gnomADv4_1_nhomalt_joint_XY=2080;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29588302 chr22_29588302_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=2.208;CADD_Rawscore=0.190252;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7TJP|enhancer||||||||||rs73159040|||||||||||||||||||||chr22:g.29588302G>A|||||||||||||,A|intergenic_variant|MODIFIER|||||||||||||||rs73159040|||||||||||||||||||||chr22:g.29588302G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENSR22_B7TJP,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=33727;gnomADv4_1_AC_joint_XX=17280;gnomADv4_1_AC_joint_XY=16447;gnomADv4_1_AF_grpmax_joint=0.593956;gnomADv4_1_AF_joint=0.221687;gnomADv4_1_AF_joint_XX=0.222165;gnomADv4_1_AF_joint_XY=0.221187;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4339;gnomADv4_1_nhomalt_joint_XX=2224;gnomADv4_1_nhomalt_joint_XY=2115;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29588439 chr22_29588439_G_A G A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=5.582;CADD_Rawscore=0.511536;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7TJP|enhancer||||||||||rs9613974|||||||||||||||||||||chr22:g.29588439G>A|||||||||||||,A|intergenic_variant|MODIFIER|||||||||||||||rs9613974|||||||||||||||||||||chr22:g.29588439G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENSR22_B7TJP,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=7857;gnomADv4_1_AC_joint_XX=4165;gnomADv4_1_AC_joint_XY=3692;gnomADv4_1_AF_grpmax_joint=0.0761042;gnomADv4_1_AF_joint=0.0516079;gnomADv4_1_AF_joint_XX=0.0535416;gnomADv4_1_AF_joint_XY=0.0495877;gnomADv4_1_AN_grpmax_joint=68012;gnomADv4_1_AN_joint=152244;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=264;gnomADv4_1_nhomalt_joint_XX=137;gnomADv4_1_nhomalt_joint_XY=127;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29588698 chr22_29588698_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.355;CADD_Rawscore=-0.278926;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs9613975|||||||||||||||||||||chr22:g.29588698C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36267;gnomADv4_1_AC_joint_XX=18987;gnomADv4_1_AC_joint_XY=17280;gnomADv4_1_AF_grpmax_joint=0.285458;gnomADv4_1_AF_joint=0.238677;gnomADv4_1_AF_joint_XX=0.244438;gnomADv4_1_AF_joint_XY=0.232652;gnomADv4_1_AN_grpmax_joint=67912;gnomADv4_1_AN_joint=151950;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4453;gnomADv4_1_nhomalt_joint_XX=2354;gnomADv4_1_nhomalt_joint_XY=2099;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29589023 chr22_29589023_A_G A G 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=11.16;CADD_Rawscore=1.07685;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9613976|4762|-1||||||||||||Ensembl||A|A||||chr22:g.29589023A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=69970;gnomADv4_1_AC_joint_XX=36256;gnomADv4_1_AC_joint_XY=33714;gnomADv4_1_AF_grpmax_joint=0.756704;gnomADv4_1_AF_joint=0.460444;gnomADv4_1_AF_joint_XX=0.466663;gnomADv4_1_AF_joint_XY=0.453938;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=151962;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16785;gnomADv4_1_nhomalt_joint_XX=8778;gnomADv4_1_nhomalt_joint_XY=8007;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29589240 chr22_29589240_C_T C T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.982;CADD_Rawscore=0.161567;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs11705569|4545|-1||||||||||||Ensembl||C|C||||chr22:g.29589240C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33717;gnomADv4_1_AC_joint_XX=17276;gnomADv4_1_AC_joint_XY=16441;gnomADv4_1_AF_grpmax_joint=0.592269;gnomADv4_1_AF_joint=0.221639;gnomADv4_1_AF_joint_XX=0.222188;gnomADv4_1_AF_joint_XY=0.221064;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4325;gnomADv4_1_nhomalt_joint_XX=2217;gnomADv4_1_nhomalt_joint_XY=2108;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29589526 chr22_29589526_AGGAGGCAGAGGTTGCAGTGAGCCGAGAT_A AGGAGGCAGAGGTTGCAGTGAGCCGAGAT A 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=.;AF_XY=0.5;AN=4;AN_XX=0;AN_XY=4;AQ=32;CADDIndel_PHREDscore=0.583;CADDIndel_Rawscore=-0.154908;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs67535352|4231|-1||||||||||||Ensembl||GGAGGCAGAGGTTGCAGTGAGCCGAGAT|GGAGGCAGAGGTTGCAGTGAGCCGAGAT||||chr22:g.29589555_29589582del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35247;gnomADv4_1_AC_joint_XX=18555;gnomADv4_1_AC_joint_XY=16692;gnomADv4_1_AF_grpmax_joint=0.2824;gnomADv4_1_AF_joint=0.235851;gnomADv4_1_AF_joint_XX=0.24234;gnomADv4_1_AF_joint_XY=0.229034;gnomADv4_1_AN_grpmax_joint=67192;gnomADv4_1_AN_joint=149446;gnomADv4_1_AN_joint_XX=76566;gnomADv4_1_AN_joint_XY=72880;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4306;gnomADv4_1_nhomalt_joint_XX=2302;gnomADv4_1_nhomalt_joint_XY=2004;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29589934 chr22_29589934_C_CA C CA 16 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=16;CADDIndel_PHREDscore=1.186;CADDIndel_Rawscore=0.026578;CSQ=A|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs34409192|3850|-1||||||||||||Ensembl|||||||chr22:g.29589953dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26448;gnomADv4_1_AC_joint_XX=14645;gnomADv4_1_AC_joint_XY=11803;gnomADv4_1_AF_grpmax_joint=0.39387;gnomADv4_1_AF_joint=0.333544;gnomADv4_1_AF_joint_XX=0.343344;gnomADv4_1_AF_joint_XY=0.322134;gnomADv4_1_AN_grpmax_joint=41044;gnomADv4_1_AN_joint=79294;gnomADv4_1_AN_joint_XX=42654;gnomADv4_1_AN_joint_XY=36640;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3447;gnomADv4_1_nhomalt_joint_XX=1947;gnomADv4_1_nhomalt_joint_XY=1500;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29590248 chr22_29590248_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.341;CADD_Rawscore=0.058786;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs4823048|3537|-1||||||||||||Ensembl||A|A||||chr22:g.29590248A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FQ4Z|open_chromatin_region||||||||||rs4823048|||||||||||||||||||||chr22:g.29590248A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000742911,ENSR22_9FQ4Z;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000296836,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=137943;gnomADv4_1_AC_joint_XX=70691;gnomADv4_1_AC_joint_XY=67252;gnomADv4_1_AF_grpmax_joint=0.973566;gnomADv4_1_AF_joint=0.905792;gnomADv4_1_AF_joint_XX=0.908181;gnomADv4_1_AF_joint_XY=0.903293;gnomADv4_1_AN_grpmax_joint=41576;gnomADv4_1_AN_joint=152290;gnomADv4_1_AN_joint_XX=77838;gnomADv4_1_AN_joint_XY=74452;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=62663;gnomADv4_1_nhomalt_joint_XX=32205;gnomADv4_1_nhomalt_joint_XY=30458;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29590480 chr22_29590480_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.185;CADD_Rawscore=-0.44806;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9613977|3305|-1||||||||||||Ensembl||T|T||||chr22:g.29590480T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36323;gnomADv4_1_AC_joint_XX=19015;gnomADv4_1_AC_joint_XY=17308;gnomADv4_1_AF_grpmax_joint=0.285456;gnomADv4_1_AF_joint=0.23876;gnomADv4_1_AF_joint_XX=0.244553;gnomADv4_1_AF_joint_XY=0.232703;gnomADv4_1_AN_grpmax_joint=67972;gnomADv4_1_AN_joint=152132;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4454;gnomADv4_1_nhomalt_joint_XX=2357;gnomADv4_1_nhomalt_joint_XY=2097;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29590755 chr22_29590755_G_C G C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=12.19;CADD_Rawscore=1.19923;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs2024119|3030|-1||||||||||||Ensembl||G|G||||chr22:g.29590755G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36319;gnomADv4_1_AC_joint_XX=19018;gnomADv4_1_AC_joint_XY=17301;gnomADv4_1_AF_grpmax_joint=0.285468;gnomADv4_1_AF_joint=0.238859;gnomADv4_1_AF_joint_XX=0.244705;gnomADv4_1_AF_joint_XY=0.232747;gnomADv4_1_AN_grpmax_joint=67948;gnomADv4_1_AN_joint=152052;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4453;gnomADv4_1_nhomalt_joint_XX=2356;gnomADv4_1_nhomalt_joint_XY=2097;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29591842 chr22_29591842_T_C T C 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=1.614;CADD_Rawscore=0.107384;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9613978|1943|-1||||||||||||Ensembl||T|T||||chr22:g.29591842T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35847;gnomADv4_1_AC_joint_XX=18805;gnomADv4_1_AC_joint_XY=17042;gnomADv4_1_AF_grpmax_joint=0.285331;gnomADv4_1_AF_joint=0.239421;gnomADv4_1_AF_joint_XX=0.245106;gnomADv4_1_AF_joint_XY=0.233446;gnomADv4_1_AN_grpmax_joint=67476;gnomADv4_1_AN_joint=149724;gnomADv4_1_AN_joint_XX=76722;gnomADv4_1_AN_joint_XY=73002;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4408;gnomADv4_1_nhomalt_joint_XX=2330;gnomADv4_1_nhomalt_joint_XY=2078;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29591877 chr22_29591877_GAAA_G GAAA G 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=2.458;CADDIndel_Rawscore=0.219075;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs71196687|1905|-1||||||||||||Ensembl||AAA|AAA||||chr22:g.29591888_29591890del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=34025;gnomADv4_1_AC_joint_XX=18120;gnomADv4_1_AC_joint_XY=15905;gnomADv4_1_AF_grpmax_joint=0.304258;gnomADv4_1_AF_joint=0.261064;gnomADv4_1_AF_joint_XX=0.266934;gnomADv4_1_AF_joint_XY=0.254684;gnomADv4_1_AN_grpmax_joint=62286;gnomADv4_1_AN_joint=130332;gnomADv4_1_AN_joint_XX=67882;gnomADv4_1_AN_joint_XY=62450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4129;gnomADv4_1_nhomalt_joint_XX=2209;gnomADv4_1_nhomalt_joint_XY=1920;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29591957 chr22_29591957_CTT_C CTT C 30 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADDIndel_PHREDscore=1.027;CADDIndel_Rawscore=-0.010793;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs35491509|1826|-1||||||||||||Ensembl||TT|TT||||chr22:g.29591977_29591978del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15230;gnomADv4_1_AC_joint_XX=8690;gnomADv4_1_AC_joint_XY=6540;gnomADv4_1_AF_grpmax_joint=0.225016;gnomADv4_1_AF_joint=0.191226;gnomADv4_1_AF_joint_XX=0.196695;gnomADv4_1_AF_joint_XY=0.184412;gnomADv4_1_AN_grpmax_joint=43468;gnomADv4_1_AN_joint=79644;gnomADv4_1_AN_joint_XX=44180;gnomADv4_1_AN_joint_XY=35464;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=460;gnomADv4_1_nhomalt_joint_XX=256;gnomADv4_1_nhomalt_joint_XY=204;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29591992 chr22_29591992_A_G A G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.045;CADD_Rawscore=-0.006321;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs13054618|1793|-1||||||||||||Ensembl||A|A||||chr22:g.29591992A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=27459;gnomADv4_1_AC_joint_XX=15043;gnomADv4_1_AC_joint_XY=12416;gnomADv4_1_AF_grpmax_joint=0.282219;gnomADv4_1_AF_joint=0.245358;gnomADv4_1_AF_joint_XX=0.250183;gnomADv4_1_AF_joint_XY=0.239756;gnomADv4_1_AN_grpmax_joint=58614;gnomADv4_1_AN_joint=111914;gnomADv4_1_AN_joint_XX=60128;gnomADv4_1_AN_joint_XY=51786;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3454;gnomADv4_1_nhomalt_joint_XX=1902;gnomADv4_1_nhomalt_joint_XY=1552;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29592260 chr22_29592260_T_C T C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=4.983;CADD_Rawscore=0.454286;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9613979|1525|-1||||||||||||Ensembl||T|T||||chr22:g.29592260T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35731;gnomADv4_1_AC_joint_XX=18753;gnomADv4_1_AC_joint_XY=16978;gnomADv4_1_AF_grpmax_joint=0.284935;gnomADv4_1_AF_joint=0.235991;gnomADv4_1_AF_joint_XX=0.241943;gnomADv4_1_AF_joint_XY=0.229749;gnomADv4_1_AN_grpmax_joint=67854;gnomADv4_1_AN_joint=151408;gnomADv4_1_AN_joint_XX=77510;gnomADv4_1_AN_joint_XY=73898;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4334;gnomADv4_1_nhomalt_joint_XX=2295;gnomADv4_1_nhomalt_joint_XY=2039;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29592271 chr22_29592271_A_G A G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.295;CADD_Rawscore=-0.326498;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9613980|1514|-1||||||||||||Ensembl||A|A||||chr22:g.29592271A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36066;gnomADv4_1_AC_joint_XX=18908;gnomADv4_1_AC_joint_XY=17158;gnomADv4_1_AF_grpmax_joint=0.285208;gnomADv4_1_AF_joint=0.23869;gnomADv4_1_AF_joint_XX=0.244466;gnomADv4_1_AF_joint_XY=0.232632;gnomADv4_1_AN_grpmax_joint=67782;gnomADv4_1_AN_joint=151100;gnomADv4_1_AN_joint_XX=77344;gnomADv4_1_AN_joint_XY=73756;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4402;gnomADv4_1_nhomalt_joint_XX=2334;gnomADv4_1_nhomalt_joint_XY=2068;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29592298 chr22_29592298_C_T C T 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.675;CADD_Rawscore=0.11711;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9613981|1487|-1||||||||||||Ensembl||C|C||||chr22:g.29592298C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35543;gnomADv4_1_AC_joint_XX=18652;gnomADv4_1_AC_joint_XY=16891;gnomADv4_1_AF_grpmax_joint=0.284155;gnomADv4_1_AF_joint=0.236041;gnomADv4_1_AF_joint_XX=0.2418;gnomADv4_1_AF_joint_XY=0.229991;gnomADv4_1_AN_grpmax_joint=67618;gnomADv4_1_AN_joint=150580;gnomADv4_1_AN_joint_XX=77138;gnomADv4_1_AN_joint_XY=73442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4268;gnomADv4_1_nhomalt_joint_XX=2261;gnomADv4_1_nhomalt_joint_XY=2007;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29592299 chr22_29592299_A_G A G 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=2.066;CADD_Rawscore=0.172526;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9613982|1486|-1||||||||||||Ensembl||A|A||||chr22:g.29592299A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35547;gnomADv4_1_AC_joint_XX=18653;gnomADv4_1_AC_joint_XY=16894;gnomADv4_1_AF_grpmax_joint=0.284513;gnomADv4_1_AF_joint=0.236633;gnomADv4_1_AF_joint_XX=0.24236;gnomADv4_1_AF_joint_XY=0.230616;gnomADv4_1_AN_grpmax_joint=67540;gnomADv4_1_AN_joint=150220;gnomADv4_1_AN_joint_XX=76964;gnomADv4_1_AN_joint_XY=73256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4270;gnomADv4_1_nhomalt_joint_XX=2263;gnomADv4_1_nhomalt_joint_XY=2007;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29592655 chr22_29592655_A_G A G 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.786;CADD_Rawscore=0.133975;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs79088981|1130|-1||||||||||||Ensembl||A|A||||chr22:g.29592655A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36140;gnomADv4_1_AC_joint_XX=18945;gnomADv4_1_AC_joint_XY=17195;gnomADv4_1_AF_grpmax_joint=0.285474;gnomADv4_1_AF_joint=0.238841;gnomADv4_1_AF_joint_XX=0.244698;gnomADv4_1_AF_joint_XY=0.232704;gnomADv4_1_AN_grpmax_joint=67824;gnomADv4_1_AN_joint=151314;gnomADv4_1_AN_joint_XX=77422;gnomADv4_1_AN_joint_XY=73892;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4421;gnomADv4_1_nhomalt_joint_XX=2344;gnomADv4_1_nhomalt_joint_XY=2077;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29592779 chr22_29592779_T_C T C 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.469;CADD_Rawscore=-0.209288;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9613983|1006|-1||||||||||||Ensembl||T|T||||chr22:g.29592779T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36218;gnomADv4_1_AC_joint_XX=18961;gnomADv4_1_AC_joint_XY=17257;gnomADv4_1_AF_grpmax_joint=0.285529;gnomADv4_1_AF_joint=0.238955;gnomADv4_1_AF_joint_XX=0.244683;gnomADv4_1_AF_joint_XY=0.232963;gnomADv4_1_AN_grpmax_joint=67888;gnomADv4_1_AN_joint=151568;gnomADv4_1_AN_joint_XX=77492;gnomADv4_1_AN_joint_XY=74076;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4436;gnomADv4_1_nhomalt_joint_XX=2345;gnomADv4_1_nhomalt_joint_XY=2091;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29592921 chr22_29592921_C_T C T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=4.941;CADD_Rawscore=0.450338;CSQ=T|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs74419685|864|-1||||||||||||Ensembl||C|C||||chr22:g.29592921C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=22506;gnomADv4_1_AC_joint_XX=11468;gnomADv4_1_AC_joint_XY=11038;gnomADv4_1_AF_grpmax_joint=0.579085;gnomADv4_1_AF_joint=0.152556;gnomADv4_1_AF_joint_XX=0.151677;gnomADv4_1_AF_joint_XY=0.15348;gnomADv4_1_AN_grpmax_joint=4982;gnomADv4_1_AN_joint=147526;gnomADv4_1_AN_joint_XX=75608;gnomADv4_1_AN_joint_XY=71918;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2371;gnomADv4_1_nhomalt_joint_XX=1199;gnomADv4_1_nhomalt_joint_XY=1172;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29593037 chr22_29593037_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.238;CADD_Rawscore=0.037715;CSQ=C|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs2052023|748|-1||||||||||||Ensembl||T|T||||chr22:g.29593037T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=71423;gnomADv4_1_AC_joint_XX=37024;gnomADv4_1_AC_joint_XY=34399;gnomADv4_1_AF_grpmax_joint=0.752324;gnomADv4_1_AF_joint=0.470836;gnomADv4_1_AF_joint_XX=0.477138;gnomADv4_1_AF_joint_XY=0.464237;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=151694;gnomADv4_1_AN_joint_XX=77596;gnomADv4_1_AN_joint_XY=74098;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17289;gnomADv4_1_nhomalt_joint_XX=9044;gnomADv4_1_nhomalt_joint_XY=8245;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29593461 chr22_29593461_ATT_A;chr22_29593461_ATTT_A ATT A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=1.829;CADDIndel_Rawscore=0.140285;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs3073773|322|-1||||||||||||Ensembl||TT|TT||||chr22:g.29593479_29593480del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33153;gnomADv4_1_AC_joint_XX=17166;gnomADv4_1_AC_joint_XY=15987;gnomADv4_1_AF_grpmax_joint=0.579901;gnomADv4_1_AF_joint=0.230614;gnomADv4_1_AF_joint_XX=0.230956;gnomADv4_1_AF_joint_XY=0.230247;gnomADv4_1_AN_grpmax_joint=4856;gnomADv4_1_AN_joint=143760;gnomADv4_1_AN_joint_XX=74326;gnomADv4_1_AN_joint_XY=69434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4138;gnomADv4_1_nhomalt_joint_XX=2142;gnomADv4_1_nhomalt_joint_XY=1996;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29593461 chr22_29593461_ATT_A;chr22_29593461_ATTT_A ATTT A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=2.093;CADDIndel_Rawscore=0.175965;CSQ=-|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs3073773|321|-1||||||||||||Ensembl||TTT|TTT||||chr22:g.29593478_29593480del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=34655;gnomADv4_1_AC_joint_XX=18313;gnomADv4_1_AC_joint_XY=16342;gnomADv4_1_AF_grpmax_joint=0.28669;gnomADv4_1_AF_joint=0.241038;gnomADv4_1_AF_joint_XX=0.246368;gnomADv4_1_AF_joint_XY=0.235333;gnomADv4_1_AN_grpmax_joint=66326;gnomADv4_1_AN_joint=143774;gnomADv4_1_AN_joint_XX=74332;gnomADv4_1_AN_joint_XY=69442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4150;gnomADv4_1_nhomalt_joint_XX=2196;gnomADv4_1_nhomalt_joint_XY=1954;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29593493 chr22_29593493_A_G A G 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.059;CADD_Rawscore=-0.752635;CSQ=G|downstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs2024121|292|-1||||||||||||Ensembl||A|A||||chr22:g.29593493A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35910;gnomADv4_1_AC_joint_XX=18849;gnomADv4_1_AC_joint_XY=17061;gnomADv4_1_AF_grpmax_joint=0.291745;gnomADv4_1_AF_joint=0.249913;gnomADv4_1_AF_joint_XX=0.254263;gnomADv4_1_AF_joint_XY=0.245277;gnomADv4_1_AN_grpmax_joint=66308;gnomADv4_1_AN_joint=143690;gnomADv4_1_AN_joint_XX=74132;gnomADv4_1_AN_joint_XY=69558;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4420;gnomADv4_1_nhomalt_joint_XX=2338;gnomADv4_1_nhomalt_joint_XY=2082;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29593836 chr22_29593836_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=3.398;CADD_Rawscore=0.311471;CSQ=A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA|2/2||ENST00000742911.1:n.721C>T||721|||||rs9613984||-1||||||||||||Ensembl||G|G||||chr22:g.29593836G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36044;gnomADv4_1_AC_joint_XX=18887;gnomADv4_1_AC_joint_XY=17157;gnomADv4_1_AF_grpmax_joint=0.285864;gnomADv4_1_AF_joint=0.237153;gnomADv4_1_AF_joint_XX=0.243038;gnomADv4_1_AF_joint_XY=0.230996;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4416;gnomADv4_1_nhomalt_joint_XX=2335;gnomADv4_1_nhomalt_joint_XY=2081;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29594306 chr22_29594306_CT_C CT C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=1.602;CADDIndel_Rawscore=0.105339;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||1/1|ENST00000742911.1:n.400-150del|||||||rs34807052||-1||||||||||||Ensembl||T|T||||chr22:g.29594322del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=32561;gnomADv4_1_AC_joint_XX=17299;gnomADv4_1_AC_joint_XY=15262;gnomADv4_1_AF_grpmax_joint=0.283569;gnomADv4_1_AF_joint=0.231764;gnomADv4_1_AF_joint_XX=0.23683;gnomADv4_1_AF_joint_XY=0.226278;gnomADv4_1_AN_grpmax_joint=65074;gnomADv4_1_AN_joint=140492;gnomADv4_1_AN_joint_XX=73044;gnomADv4_1_AN_joint_XY=67448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3623;gnomADv4_1_nhomalt_joint_XX=1933;gnomADv4_1_nhomalt_joint_XY=1690;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29594424 chr22_29594424_C_T C T 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.367;CADD_Rawscore=-0.271182;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||1/1|ENST00000742911.1:n.400-267G>A|||||||rs78183623||-1||||||||||||Ensembl||C|C||||chr22:g.29594424C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=18874;gnomADv4_1_AC_joint_XX=9891;gnomADv4_1_AC_joint_XY=8983;gnomADv4_1_AF_grpmax_joint=0.217306;gnomADv4_1_AF_joint=0.124387;gnomADv4_1_AF_joint_XX=0.127438;gnomADv4_1_AF_joint_XY=0.121192;gnomADv4_1_AN_grpmax_joint=5108;gnomADv4_1_AN_joint=151736;gnomADv4_1_AN_joint_XX=77614;gnomADv4_1_AN_joint_XY=74122;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1427;gnomADv4_1_nhomalt_joint_XX=777;gnomADv4_1_nhomalt_joint_XY=650;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29594697 chr22_29594697_T_C T C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.479;CADD_Rawscore=-0.203897;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||1/1|ENST00000742911.1:n.400-540A>G|||||||rs13055568||-1||||||||||||Ensembl||T|T||||chr22:g.29594697T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35998;gnomADv4_1_AC_joint_XX=18860;gnomADv4_1_AC_joint_XY=17138;gnomADv4_1_AF_grpmax_joint=0.286112;gnomADv4_1_AF_joint=0.237207;gnomADv4_1_AF_joint_XX=0.243022;gnomADv4_1_AF_joint_XY=0.23112;gnomADv4_1_AN_grpmax_joint=67872;gnomADv4_1_AN_joint=151758;gnomADv4_1_AN_joint_XX=77606;gnomADv4_1_AN_joint_XY=74152;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4411;gnomADv4_1_nhomalt_joint_XX=2326;gnomADv4_1_nhomalt_joint_XY=2085;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29594982 chr22_29594982_A_G A G 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.38;CADD_Rawscore=-0.262011;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||1/1|ENST00000742911.1:n.400-825T>C|||||||rs34013089||-1||||||||||||Ensembl||A|A||||chr22:g.29594982A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36128;gnomADv4_1_AC_joint_XX=18924;gnomADv4_1_AC_joint_XY=17204;gnomADv4_1_AF_grpmax_joint=0.285188;gnomADv4_1_AF_joint=0.23796;gnomADv4_1_AF_joint_XX=0.243772;gnomADv4_1_AF_joint_XY=0.231879;gnomADv4_1_AN_grpmax_joint=67906;gnomADv4_1_AN_joint=151824;gnomADv4_1_AN_joint_XX=77630;gnomADv4_1_AN_joint_XY=74194;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4385;gnomADv4_1_nhomalt_joint_XX=2320;gnomADv4_1_nhomalt_joint_XY=2065;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29594990 chr22_29594990_C_T C T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=2.623;CADD_Rawscore=0.236779;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||1/1|ENST00000742911.1:n.400-833G>A|||||||rs9613986||-1||||||||||||Ensembl||C|C||||chr22:g.29594990C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35918;gnomADv4_1_AC_joint_XX=18819;gnomADv4_1_AC_joint_XY=17099;gnomADv4_1_AF_grpmax_joint=0.28526;gnomADv4_1_AF_joint=0.236427;gnomADv4_1_AF_joint_XX=0.242269;gnomADv4_1_AF_joint_XY=0.230314;gnomADv4_1_AN_grpmax_joint=67910;gnomADv4_1_AN_joint=151920;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4361;gnomADv4_1_nhomalt_joint_XX=2304;gnomADv4_1_nhomalt_joint_XY=2057;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29596066 chr22_29596066_G_A G A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.853;CADD_Rawscore=0.143772;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||1/1|ENST00000742911.1:n.399+1011C>T|||||||rs2024116||-1||||||||||||Ensembl||G|G||||chr22:g.29596066G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35897;gnomADv4_1_AC_joint_XX=18832;gnomADv4_1_AC_joint_XY=17065;gnomADv4_1_AF_grpmax_joint=0.285594;gnomADv4_1_AF_joint=0.237003;gnomADv4_1_AF_joint_XX=0.242937;gnomADv4_1_AF_joint_XY=0.230783;gnomADv4_1_AN_grpmax_joint=67862;gnomADv4_1_AN_joint=151462;gnomADv4_1_AN_joint_XX=77518;gnomADv4_1_AN_joint_XY=73944;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4398;gnomADv4_1_nhomalt_joint_XX=2328;gnomADv4_1_nhomalt_joint_XY=2070;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29596146 chr22_29596146_A_G A G 61 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=61;CADD_PHREDscore=0.067;CADD_Rawscore=-0.719135;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||1/1|ENST00000742911.1:n.399+931T>C|||||||rs2024117||-1||||||||||||Ensembl||A|A||||chr22:g.29596146A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=71658;gnomADv4_1_AC_joint_XX=37189;gnomADv4_1_AC_joint_XY=34469;gnomADv4_1_AF_grpmax_joint=0.75234;gnomADv4_1_AF_joint=0.477816;gnomADv4_1_AF_joint_XX=0.484838;gnomADv4_1_AF_joint_XY=0.470464;gnomADv4_1_AN_grpmax_joint=5128;gnomADv4_1_AN_joint=149970;gnomADv4_1_AN_joint_XX=76704;gnomADv4_1_AN_joint_XY=73266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17401;gnomADv4_1_nhomalt_joint_XX=9105;gnomADv4_1_nhomalt_joint_XY=8296;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29596168 chr22_29596168_AAAATT_A AAAATT A 54 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=2.851;CADDIndel_Rawscore=0.259993;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||1/1|ENST00000742911.1:n.399+904_399+908del|||||||rs138901365||-1||||||||||||Ensembl||AAATT|AAATT||||chr22:g.29596171_29596175del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35835;gnomADv4_1_AC_joint_XX=18833;gnomADv4_1_AC_joint_XY=17002;gnomADv4_1_AF_grpmax_joint=0.285929;gnomADv4_1_AF_joint=0.23626;gnomADv4_1_AF_joint_XX=0.242587;gnomADv4_1_AF_joint_XY=0.229626;gnomADv4_1_AN_grpmax_joint=67926;gnomADv4_1_AN_joint=151676;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74042;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4383;gnomADv4_1_nhomalt_joint_XX=2325;gnomADv4_1_nhomalt_joint_XY=2058;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29596236 chr22_29596236_A_AT;chr22_29596236_AT_A A AT 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=1.644;CADDIndel_Rawscore=0.11224;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||1/1|ENST00000742911.1:n.399+840dup|||||||rs200146877||-1||||||||||||Ensembl|||||||chr22:g.29596252dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33893;gnomADv4_1_AC_joint_XX=18054;gnomADv4_1_AC_joint_XY=15839;gnomADv4_1_AF_grpmax_joint=0.278135;gnomADv4_1_AF_joint=0.23659;gnomADv4_1_AF_joint_XX=0.243571;gnomADv4_1_AF_joint_XY=0.229106;gnomADv4_1_AN_grpmax_joint=66022;gnomADv4_1_AN_joint=143256;gnomADv4_1_AN_joint_XX=74122;gnomADv4_1_AN_joint_XY=69134;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4041;gnomADv4_1_nhomalt_joint_XX=2165;gnomADv4_1_nhomalt_joint_XY=1876;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29596236 chr22_29596236_A_AT;chr22_29596236_AT_A AT A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.087;CADDIndel_Rawscore=-0.649438;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||1/1|ENST00000742911.1:n.399+840del|||||||rs200146877||-1||||||||||||Ensembl||T|T||||chr22:g.29596252del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=33150;gnomADv4_1_AC_joint_XX=17187;gnomADv4_1_AC_joint_XY=15963;gnomADv4_1_AF_grpmax_joint=0.57027;gnomADv4_1_AF_joint=0.231472;gnomADv4_1_AF_joint_XX=0.231925;gnomADv4_1_AF_joint_XY=0.230986;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=143214;gnomADv4_1_AN_joint_XX=74106;gnomADv4_1_AN_joint_XY=69108;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3950;gnomADv4_1_nhomalt_joint_XX=2045;gnomADv4_1_nhomalt_joint_XY=1905;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29596453 chr22_29596453_TCA_T TCA T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=1.344;CADDIndel_Rawscore=0.059369;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||1/1|ENST00000742911.1:n.399+622_399+623del|||||||rs71812872||-1||||||||||||Ensembl||CA|CA||||chr22:g.29596454_29596455del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35894;gnomADv4_1_AC_joint_XX=18820;gnomADv4_1_AC_joint_XY=17074;gnomADv4_1_AF_grpmax_joint=0.2859;gnomADv4_1_AF_joint=0.23669;gnomADv4_1_AF_joint_XX=0.242651;gnomADv4_1_AF_joint_XY=0.230449;gnomADv4_1_AN_grpmax_joint=67870;gnomADv4_1_AN_joint=151650;gnomADv4_1_AN_joint_XX=77560;gnomADv4_1_AN_joint_XY=74090;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4370;gnomADv4_1_nhomalt_joint_XX=2310;gnomADv4_1_nhomalt_joint_XY=2060;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29596769 chr22_29596769_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.417;CADD_Rawscore=0.0732;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||1/1|ENST00000742911.1:n.399+308C>T|||||||rs2530656||-1||||||||||||Ensembl||G|G||||chr22:g.29596769G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=22562;gnomADv4_1_AC_joint_XX=11490;gnomADv4_1_AC_joint_XY=11072;gnomADv4_1_AF_grpmax_joint=0.564854;gnomADv4_1_AF_joint=0.148372;gnomADv4_1_AF_joint_XX=0.147774;gnomADv4_1_AF_joint_XY=0.148997;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2382;gnomADv4_1_nhomalt_joint_XX=1203;gnomADv4_1_nhomalt_joint_XY=1179;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29597286 chr22_29597286_G_C G C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=2.65;CADD_Rawscore=0.239608;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA|1/2||ENST00000742911.1:n.190C>G||190|||||rs9613990||-1||||||||||||Ensembl||G|G||||chr22:g.29597286G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FQ73|enhancer||||||||||rs9613990|||||||||||||||||||||chr22:g.29597286G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000742911,ENSR22_9FQ73;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000296836,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=36074;gnomADv4_1_AC_joint_XX=18906;gnomADv4_1_AC_joint_XY=17168;gnomADv4_1_AF_grpmax_joint=0.28628;gnomADv4_1_AF_joint=0.237226;gnomADv4_1_AF_joint_XX=0.243108;gnomADv4_1_AF_joint_XY=0.231069;gnomADv4_1_AN_grpmax_joint=67972;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4425;gnomADv4_1_nhomalt_joint_XX=2338;gnomADv4_1_nhomalt_joint_XY=2087;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29597439 chr22_29597439_G_A G A 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.18;CADD_Rawscore=-0.454637;CSQ=A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA|1/2||ENST00000742911.1:n.37C>T||37|||||rs9613991||-1||||||||||||Ensembl||G|G||||chr22:g.29597439G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FQ73|enhancer||||||||||rs9613991|||||||||||||||||||||chr22:g.29597439G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000742911,ENSR22_9FQ73;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000296836,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=36107;gnomADv4_1_AC_joint_XX=18925;gnomADv4_1_AC_joint_XY=17182;gnomADv4_1_AF_grpmax_joint=0.285706;gnomADv4_1_AF_joint=0.237618;gnomADv4_1_AF_joint_XX=0.243584;gnomADv4_1_AF_joint_XY=0.231376;gnomADv4_1_AN_grpmax_joint=67916;gnomADv4_1_AN_joint=151954;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4388;gnomADv4_1_nhomalt_joint_XX=2319;gnomADv4_1_nhomalt_joint_XY=2069;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29597449 chr22_29597449_T_C T C 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.081;CADD_Rawscore=-0.66743;CSQ=C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA|1/2||ENST00000742911.1:n.27A>G||27|||||rs9613992||-1||||||||||||Ensembl||T|T||||chr22:g.29597449T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FQ73|enhancer||||||||||rs9613992|||||||||||||||||||||chr22:g.29597449T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000742911,ENSR22_9FQ73;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000296836,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=35857;gnomADv4_1_AC_joint_XX=18792;gnomADv4_1_AC_joint_XY=17065;gnomADv4_1_AF_grpmax_joint=0.28599;gnomADv4_1_AF_joint=0.235898;gnomADv4_1_AF_joint_XX=0.241822;gnomADv4_1_AF_joint_XY=0.229702;gnomADv4_1_AN_grpmax_joint=67922;gnomADv4_1_AN_joint=152002;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4336;gnomADv4_1_nhomalt_joint_XX=2290;gnomADv4_1_nhomalt_joint_XY=2046;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29597965 chr22_29597965_C_G C G 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.294;CADD_Rawscore=0.200508;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9613993|490|-1||||||||||||Ensembl||C|C||||chr22:g.29597965C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36095;gnomADv4_1_AC_joint_XX=18906;gnomADv4_1_AC_joint_XY=17189;gnomADv4_1_AF_grpmax_joint=0.28645;gnomADv4_1_AF_joint=0.237264;gnomADv4_1_AF_joint_XX=0.243164;gnomADv4_1_AF_joint_XY=0.231097;gnomADv4_1_AN_grpmax_joint=67970;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4428;gnomADv4_1_nhomalt_joint_XX=2339;gnomADv4_1_nhomalt_joint_XY=2089;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29598139 chr22_29598139_C_G C G 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.776;CADD_Rawscore=-0.082768;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9613994|664|-1||||||||||||Ensembl||C|C||||chr22:g.29598139C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36091;gnomADv4_1_AC_joint_XX=18906;gnomADv4_1_AC_joint_XY=17185;gnomADv4_1_AF_grpmax_joint=0.2864;gnomADv4_1_AF_joint=0.237285;gnomADv4_1_AF_joint_XX=0.243183;gnomADv4_1_AF_joint_XY=0.231118;gnomADv4_1_AN_grpmax_joint=67954;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4432;gnomADv4_1_nhomalt_joint_XX=2338;gnomADv4_1_nhomalt_joint_XY=2094;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29598218 chr22_29598218_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.687;CADD_Rawscore=-0.113784;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9608787|743|-1||||||||||||Ensembl||G|G||||chr22:g.29598218G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36308;gnomADv4_1_AC_joint_XX=19014;gnomADv4_1_AC_joint_XY=17294;gnomADv4_1_AF_grpmax_joint=0.286305;gnomADv4_1_AF_joint=0.239259;gnomADv4_1_AF_joint_XX=0.245083;gnomADv4_1_AF_joint_XY=0.233167;gnomADv4_1_AN_grpmax_joint=67924;gnomADv4_1_AN_joint=151752;gnomADv4_1_AN_joint_XX=77582;gnomADv4_1_AN_joint_XY=74170;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4459;gnomADv4_1_nhomalt_joint_XX=2358;gnomADv4_1_nhomalt_joint_XY=2101;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29598257 chr22_29598257_G_C G C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.983;CADD_Rawscore=-0.022224;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9613995|782|-1||||||||||||Ensembl||G|G||||chr22:g.29598257G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36105;gnomADv4_1_AC_joint_XX=18897;gnomADv4_1_AC_joint_XY=17208;gnomADv4_1_AF_grpmax_joint=0.286347;gnomADv4_1_AF_joint=0.237296;gnomADv4_1_AF_joint_XX=0.243086;gnomADv4_1_AF_joint_XY=0.231247;gnomADv4_1_AN_grpmax_joint=67942;gnomADv4_1_AN_joint=152152;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4438;gnomADv4_1_nhomalt_joint_XX=2338;gnomADv4_1_nhomalt_joint_XY=2100;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29598389 chr22_29598389_T_C T C 54 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.831;CADD_Rawscore=0.140517;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9613996|914|-1||||||||||||Ensembl||T|T||||chr22:g.29598389T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36098;gnomADv4_1_AC_joint_XX=18917;gnomADv4_1_AC_joint_XY=17181;gnomADv4_1_AF_grpmax_joint=0.286326;gnomADv4_1_AF_joint=0.237265;gnomADv4_1_AF_joint_XX=0.243249;gnomADv4_1_AF_joint_XY=0.231008;gnomADv4_1_AN_grpmax_joint=67940;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4442;gnomADv4_1_nhomalt_joint_XX=2345;gnomADv4_1_nhomalt_joint_XY=2097;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29598403 chr22_29598403_G_C G C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.178;CADD_Rawscore=-0.457746;CSQ=C|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs2530657|928|-1||||||||||||Ensembl||G|G||||chr22:g.29598403G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=148052;gnomADv4_1_AC_joint_XX=75684;gnomADv4_1_AC_joint_XY=72368;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.972491;gnomADv4_1_AF_joint_XX=0.972627;gnomADv4_1_AF_joint_XY=0.972348;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152240;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=72021;gnomADv4_1_nhomalt_joint_XX=36818;gnomADv4_1_nhomalt_joint_XY=35203;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29598464 chr22_29598464_A_G A G 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=3.95;CADD_Rawscore=0.360804;CSQ=G|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9613997|989|-1||||||||||||Ensembl||A|A||||chr22:g.29598464A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36335;gnomADv4_1_AC_joint_XX=19018;gnomADv4_1_AC_joint_XY=17317;gnomADv4_1_AF_grpmax_joint=0.286467;gnomADv4_1_AF_joint=0.239115;gnomADv4_1_AF_joint_XX=0.244819;gnomADv4_1_AF_joint_XY=0.23315;gnomADv4_1_AN_grpmax_joint=67938;gnomADv4_1_AN_joint=151956;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4468;gnomADv4_1_nhomalt_joint_XX=2357;gnomADv4_1_nhomalt_joint_XY=2111;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29598551 chr22_29598551_G_A G A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=4.092;CADD_Rawscore=0.373379;CSQ=A|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs7287318|1076|-1||||||||||||Ensembl||G|G||||chr22:g.29598551G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=ENST00000742911;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000296836;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36035;gnomADv4_1_AC_joint_XX=18884;gnomADv4_1_AC_joint_XY=17151;gnomADv4_1_AF_grpmax_joint=0.286238;gnomADv4_1_AF_joint=0.237141;gnomADv4_1_AF_joint_XX=0.243012;gnomADv4_1_AF_joint_XY=0.230996;gnomADv4_1_AN_grpmax_joint=67926;gnomADv4_1_AN_joint=151956;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4411;gnomADv4_1_nhomalt_joint_XX=2327;gnomADv4_1_nhomalt_joint_XY=2084;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29599295 chr22_29599295_T_G T G 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=2.113;CADD_Rawscore=0.178587;CSQ=G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs9608789|4432|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs9608789|4338|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs9608789|4452|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs9608789|4338|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs9608789|4322|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs9608789|4704|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs9608789|4704|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs9608789|4293|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs9608789|4338|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs9608789|4261|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs9608789|4654|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs9608789|4308|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs9608789|4273|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs9608789|4338|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs9608789|4338|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs9608789|4258|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9608789|1820|-1||||||||||||Ensembl||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs9608789|4261|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs9608789|4338|1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29599295T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,ENST00000742911,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000296836,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36206;gnomADv4_1_AC_joint_XX=18982;gnomADv4_1_AC_joint_XY=17224;gnomADv4_1_AF_grpmax_joint=0.28639;gnomADv4_1_AF_joint=0.238886;gnomADv4_1_AF_joint_XX=0.244746;gnomADv4_1_AF_joint_XY=0.232744;gnomADv4_1_AN_grpmax_joint=67848;gnomADv4_1_AN_joint=151562;gnomADv4_1_AN_joint_XX=77558;gnomADv4_1_AN_joint_XY=74004;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4436;gnomADv4_1_nhomalt_joint_XX=2352;gnomADv4_1_nhomalt_joint_XY=2084;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29599522 chr22_29599522_G_A G A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.465;CADD_Rawscore=-0.211583;CSQ=A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs9608790|4205|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs9608790|4111|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs9608790|4225|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs9608790|4111|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs9608790|4095|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs9608790|4477|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs9608790|4477|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs9608790|4066|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs9608790|4111|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs9608790|4034|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs9608790|4427|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs9608790|4081|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs9608790|4046|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs9608790|4111|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs9608790|4111|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs9608790|4031|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9608790|2047|-1||||||||||||Ensembl||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs9608790|4034|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs9608790|4111|1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29599522G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,ENST00000742911,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000296836,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36273;gnomADv4_1_AC_joint_XX=18997;gnomADv4_1_AC_joint_XY=17276;gnomADv4_1_AF_grpmax_joint=0.286078;gnomADv4_1_AF_joint=0.238698;gnomADv4_1_AF_joint_XX=0.244485;gnomADv4_1_AF_joint_XY=0.232642;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=151962;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4451;gnomADv4_1_nhomalt_joint_XX=2358;gnomADv4_1_nhomalt_joint_XY=2093;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29599718 chr22_29599718_G_C G C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.678;CADD_Rawscore=-0.117075;CSQ=C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs9613998|4009|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs9613998|3915|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs9613998|4029|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs9613998|3915|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs9613998|3899|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs9613998|4281|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs9613998|4281|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs9613998|3870|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs9613998|3915|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs9613998|3838|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs9613998|4231|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs9613998|3885|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs9613998|3850|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs9613998|3915|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs9613998|3915|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs9613998|3835|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9613998|2243|-1||||||||||||Ensembl||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs9613998|3838|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs9613998|3915|1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29599718G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,ENST00000742911,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000296836,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36049;gnomADv4_1_AC_joint_XX=18889;gnomADv4_1_AC_joint_XY=17160;gnomADv4_1_AF_grpmax_joint=0.286399;gnomADv4_1_AF_joint=0.237249;gnomADv4_1_AF_joint_XX=0.243145;gnomADv4_1_AF_joint_XY=0.23108;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=151946;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4421;gnomADv4_1_nhomalt_joint_XX=2335;gnomADv4_1_nhomalt_joint_XY=2086;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29599729 chr22_29599729_C_T C T 58 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.881;CADD_Rawscore=0.14766;CSQ=T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs2530658|3998|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs2530658|3904|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs2530658|4018|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs2530658|3904|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs2530658|3888|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs2530658|4270|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs2530658|4270|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs2530658|3859|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs2530658|3904|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs2530658|3827|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs2530658|4220|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs2530658|3874|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs2530658|3839|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs2530658|3904|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs2530658|3904|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs2530658|3824|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs2530658|2254|-1||||||||||||Ensembl||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs2530658|3827|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs2530658|3904|1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29599729C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,ENST00000742911,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000296836,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22558;gnomADv4_1_AC_joint_XX=11483;gnomADv4_1_AC_joint_XY=11075;gnomADv4_1_AF_grpmax_joint=0.566499;gnomADv4_1_AF_joint=0.148351;gnomADv4_1_AF_joint_XX=0.147722;gnomADv4_1_AF_joint_XY=0.14901;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2383;gnomADv4_1_nhomalt_joint_XX=1203;gnomADv4_1_nhomalt_joint_XY=1180;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29599980 chr22_29599980_CT_C CT C 20 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=20;CADDIndel_PHREDscore=0.504;CADDIndel_Rawscore=-0.191381;CSQ=-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs71196689|3746|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs71196689|3652|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs71196689|3766|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs71196689|3652|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs71196689|3636|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs71196689|4018|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs71196689|4018|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs71196689|3607|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs71196689|3652|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs71196689|3575|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs71196689|3968|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs71196689|3622|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs71196689|3587|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs71196689|3652|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs71196689|3652|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs71196689|3572|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs71196689|2506|-1||||||||||||Ensembl||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs71196689|3575|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs71196689|3652|1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29600002del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,ENST00000742911,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000296836,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30788;gnomADv4_1_AC_joint_XX=16952;gnomADv4_1_AC_joint_XY=13836;gnomADv4_1_AF_grpmax_joint=0.660714;gnomADv4_1_AF_joint=0.537031;gnomADv4_1_AF_joint_XX=0.538501;gnomADv4_1_AF_joint_XY=0.535242;gnomADv4_1_AN_grpmax_joint=56;gnomADv4_1_AN_joint=57330;gnomADv4_1_AN_joint_XX=31480;gnomADv4_1_AN_joint_XY=25850;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5111;gnomADv4_1_nhomalt_joint_XX=2732;gnomADv4_1_nhomalt_joint_XY=2379;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29600913 chr22_29600913_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.494;CADD_Rawscore=-0.19627;CSQ=G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs2857636|2814|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs2857636|2720|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs2857636|2834|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs2857636|2720|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs2857636|2704|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs2857636|3086|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs2857636|3086|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs2857636|2675|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs2857636|2720|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs2857636|2643|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs2857636|3036|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs2857636|2690|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs2857636|2655|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs2857636|2720|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs2857636|2720|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs2857636|2640|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs2857636|3438|-1||||||||||||Ensembl||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs2857636|2643|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs2857636|2720|1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29600913A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,ENST00000742911,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000296836,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152340;gnomADv4_1_AC_joint_XX=77850;gnomADv4_1_AC_joint_XY=74490;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999934;gnomADv4_1_AF_joint_XX=0.999923;gnomADv4_1_AF_joint_XY=0.999946;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152350;gnomADv4_1_AN_joint_XX=77856;gnomADv4_1_AN_joint_XY=74494;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=76165;gnomADv4_1_nhomalt_joint_XX=38922;gnomADv4_1_nhomalt_joint_XY=37243;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29600936 chr22_29600936_C_T C T 60 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.239;CADD_Rawscore=-0.380441;CSQ=T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs143792320|2791|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs143792320|2697|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs143792320|2811|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs143792320|2697|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs143792320|2681|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs143792320|3063|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs143792320|3063|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs143792320|2652|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs143792320|2697|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs143792320|2620|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs143792320|3013|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs143792320|2667|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs143792320|2632|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs143792320|2697|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs143792320|2697|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs143792320|2617|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs143792320|3461|-1||||||||||||Ensembl||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs143792320|2620|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs143792320|2697|1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29600936C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,ENST00000742911,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000296836,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=234;gnomADv4_1_AC_joint_XX=108;gnomADv4_1_AC_joint_XY=126;gnomADv4_1_AF_grpmax_joint=0.00680272;gnomADv4_1_AF_joint=0.00153719;gnomADv4_1_AF_joint_XX=0.00138825;gnomADv4_1_AF_joint_XY=0.00169287;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152226;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74430;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29600942 chr22_29600942_A_T A T 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.396;CADD_Rawscore=0.212143;CSQ=T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs2531843|2785|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs2531843|2691|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs2531843|2805|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs2531843|2691|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs2531843|2675|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs2531843|3057|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs2531843|3057|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs2531843|2646|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs2531843|2691|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs2531843|2614|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs2531843|3007|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs2531843|2661|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs2531843|2626|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs2531843|2691|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs2531843|2691|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs2531843|2611|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs2531843|3467|-1||||||||||||Ensembl||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs2531843|2614|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs2531843|2691|1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29600942A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,ENST00000742911,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000296836,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152356;gnomADv4_1_AC_joint_XX=77862;gnomADv4_1_AC_joint_XY=74494;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68042;gnomADv4_1_AN_joint=152356;gnomADv4_1_AN_joint_XX=77862;gnomADv4_1_AN_joint_XY=74494;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76178;gnomADv4_1_nhomalt_joint_XX=38931;gnomADv4_1_nhomalt_joint_XY=37247;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29600945 chr22_29600945_G_T G T 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.474;CADD_Rawscore=0.407562;CSQ=T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs2530659|2782|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs2530659|2688|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs2530659|2802|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs2530659|2688|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs2530659|2672|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs2530659|3054|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs2530659|3054|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs2530659|2643|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs2530659|2688|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs2530659|2611|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs2530659|3004|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs2530659|2658|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs2530659|2623|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs2530659|2688|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs2530659|2688|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs2530659|2608|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs2530659|3470|-1||||||||||||Ensembl||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs2530659|2611|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs2530659|2688|1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29600945G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,ENST00000742911,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000296836,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152360;gnomADv4_1_AC_joint_XX=77862;gnomADv4_1_AC_joint_XY=74498;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68044;gnomADv4_1_AN_joint=152360;gnomADv4_1_AN_joint_XX=77862;gnomADv4_1_AN_joint_XY=74498;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76180;gnomADv4_1_nhomalt_joint_XX=38931;gnomADv4_1_nhomalt_joint_XY=37249;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29601022 chr22_29601022_C_T C T 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=2.796;CADD_Rawscore=0.254508;CSQ=T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs9613999|2705|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs9613999|2611|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs9613999|2725|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs9613999|2611|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs9613999|2595|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs9613999|2977|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs9613999|2977|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs9613999|2566|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs9613999|2611|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs9613999|2534|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs9613999|2927|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs9613999|2581|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs9613999|2546|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs9613999|2611|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs9613999|2611|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs9613999|2531|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs9613999|3547|-1||||||||||||Ensembl||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs9613999|2534|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs9613999|2611|1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29601022C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,ENST00000742911,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000296836,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36089;gnomADv4_1_AC_joint_XX=18903;gnomADv4_1_AC_joint_XY=17186;gnomADv4_1_AF_grpmax_joint=0.286393;gnomADv4_1_AF_joint=0.237243;gnomADv4_1_AF_joint_XX=0.243088;gnomADv4_1_AF_joint_XY=0.231131;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4426;gnomADv4_1_nhomalt_joint_XX=2336;gnomADv4_1_nhomalt_joint_XY=2090;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29601585 chr22_29601585_T_C T C 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.812;CADD_Rawscore=0.13789;CSQ=C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs715490|2142|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs715490|2048|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs715490|2162|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs715490|2048|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs715490|2032|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs715490|2414|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs715490|2414|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs715490|2003|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs715490|2048|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs715490|1971|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs715490|2364|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs715490|2018|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs715490|1983|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs715490|2048|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs715490|2048|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs715490|1968|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs715490|4110|-1||||||||||||Ensembl||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs715490|1971|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs715490|2048|1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29601585T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,ENST00000742911,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000296836,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36064;gnomADv4_1_AC_joint_XX=18905;gnomADv4_1_AC_joint_XY=17159;gnomADv4_1_AF_grpmax_joint=0.286419;gnomADv4_1_AF_joint=0.237316;gnomADv4_1_AF_joint_XX=0.243251;gnomADv4_1_AF_joint_XY=0.231104;gnomADv4_1_AN_grpmax_joint=67946;gnomADv4_1_AN_joint=151966;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4417;gnomADv4_1_nhomalt_joint_XX=2338;gnomADv4_1_nhomalt_joint_XY=2079;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29602003 chr22_29602003_GT_G GT G 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.562;CADDIndel_Rawscore=-0.163919;CSQ=-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs34645852|1723|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs34645852|1629|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs34645852|1743|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs34645852|1629|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs34645852|1613|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs34645852|1995|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs34645852|1995|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs34645852|1584|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs34645852|1629|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs34645852|1552|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs34645852|1945|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs34645852|1599|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs34645852|1564|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs34645852|1629|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs34645852|1629|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs34645852|1549|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000296836|Transcript|ENST00000742911|lncRNA||||||||||rs34645852|4529|-1||||||||||||Ensembl||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs34645852|1552|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs34645852|1629|1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29602005del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,ENST00000742911,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000296836,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36250;gnomADv4_1_AC_joint_XX=18994;gnomADv4_1_AC_joint_XY=17256;gnomADv4_1_AF_grpmax_joint=0.285899;gnomADv4_1_AF_joint=0.238656;gnomADv4_1_AF_joint_XX=0.244598;gnomADv4_1_AF_joint_XY=0.232442;gnomADv4_1_AN_grpmax_joint=67940;gnomADv4_1_AN_joint=151892;gnomADv4_1_AN_joint_XX=77654;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4438;gnomADv4_1_nhomalt_joint_XX=2353;gnomADv4_1_nhomalt_joint_XY=2085;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29603247 chr22_29603247_G_C G C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.242;CADD_Rawscore=-0.376782;CSQ=C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs1800538|480|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs1800538|386|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs1800538|500|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs1800538|386|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs1800538|370|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs1800538|752|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs1800538|752|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs1800538|341|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs1800538|386|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs1800538|309|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs1800538|702|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs1800538|356|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs1800538|321|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs1800538|386|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs1800538|386|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs1800538|306|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs1800538|309|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs1800538|386|1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29603247G>C|benign||1||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7TLW|promoter||||||||||rs1800538|||||||||||||||||||||chr22:g.29603247G>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29603247G>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=683799;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,ENSR22_B7TLW;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,.;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36048;gnomADv4_1_AC_joint_XX=18889;gnomADv4_1_AC_joint_XY=17159;gnomADv4_1_AF_grpmax_joint=0.286484;gnomADv4_1_AF_joint=0.237183;gnomADv4_1_AF_joint_XX=0.243114;gnomADv4_1_AF_joint_XY=0.230979;gnomADv4_1_AN_grpmax_joint=67934;gnomADv4_1_AN_joint=151984;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4415;gnomADv4_1_nhomalt_joint_XX=2331;gnomADv4_1_nhomalt_joint_XY=2084;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29603354 chr22_29603354_CT_C CT C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=5.2;CADDIndel_Rawscore=0.474724;CSQ=-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs1799754|372|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs1799754|278|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs1799754|392|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs1799754|278|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs1799754|262|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs1799754|644|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs1799754|644|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs1799754|233|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs1799754|278|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs1799754|201|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs1799754|594|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs1799754|248|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs1799754|213|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs1799754|278|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs1799754|278|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs1799754|198|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs1799754|201|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs1799754|278|1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29603361del|benign||1||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7TLW|promoter||||||||||rs1799754|||||||||||||||||||||chr22:g.29603361del|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29603361del;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=1265938;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,ENSR22_B7TLW;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,.;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70901;gnomADv4_1_AC_joint_XX=36712;gnomADv4_1_AC_joint_XY=34189;gnomADv4_1_AF_grpmax_joint=0.751944;gnomADv4_1_AF_joint=0.466313;gnomADv4_1_AF_joint_XX=0.472387;gnomADv4_1_AF_joint_XY=0.459962;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17127;gnomADv4_1_nhomalt_joint_XX=8950;gnomADv4_1_nhomalt_joint_XY=8177;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29603889 chr22_29603889_G_C G C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=13.0;CADD_Rawscore=1.31357;CSQ=C|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding|1/15||ENST00000334961.11:c.-110G>C||163|||||rs1800540||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding|1/16||ENST00000338641.10:c.-110G>C||257|||||rs1800540||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding|1/15||ENST00000353887.8:c.-110G>C||143|||||rs1800540||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding|1/15||ENST00000361166.10:c.-110G>C||257|||||rs1800540||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding|1/16||ENST00000361452.8:c.-110G>C||273|||||rs1800540||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29603889G>C|benign||1||||||0|0|3||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs1800540|110|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29603889G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs1800540|110|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29603889G>C|benign||1||||||||||,C|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding|1/17||ENST00000403435.5:c.-110G>C||302|||||rs1800540||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29603889G>C|benign||1||||||0|0|3||,C|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding|1/16||ENST00000403999.7:c.-110G>C||257|||||rs1800540||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding|1/5||ENST00000413209.6:c.-110G>C||334|||||rs1800540||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29603889G>C|benign||1||||||0|0|3||,C|upstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs1800540|60|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29603889G>C|benign||1||||||||||,C|5_prime_UTR_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay|1/18||ENST00000672461.1:c.-110G>C||287|||||rs1800540||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29603889G>C|benign||1||||||0|0|3||,C|5_prime_UTR_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay|1/17||ENST00000672805.1:c.-110G>C||322|||||rs1800540||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29603889G>C|benign||1||||||0|0|3||,C|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding|1/17||ENST00000672896.1:c.-110G>C||257|||||rs1800540||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay|1/17||ENST00000673312.2:c.-110G>C||257|||||rs1800540||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding|1/15||ENST00000713935.1:c.-110G>C||337|||||rs1800540||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29603889G>C|benign||1||||||0|0|3||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding|1/16||NM_000268.4:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding|1/17||NM_001407053.1:c.-340G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|4|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding|1/15||NM_001407054.1:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding|1/15||NM_001407055.1:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding|1/18||NM_001407056.1:c.-340G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|4|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding|1/15||NM_001407057.1:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding|1/16||NM_001407058.1:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding|1/16||NM_001407059.1:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding|1/15||NM_001407060.1:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding|1/14||NM_001407062.1:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding|1/15||NM_001407063.1:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding|1/13||NM_001407064.1:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding|1/18||NM_001407065.1:c.-750G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|15||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding|1/17||NM_001407066.1:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding|1/17||NM_001407067.1:c.-366G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|6|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding|1/17||NM_016418.5:c.-110G>C||334|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29603889G>C|benign||1||||||0|0|3||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding|1/16||NM_181825.3:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding|1/16||NM_181828.3:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding|1/16||NM_181829.3:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding|1/15||NM_181830.3:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding|1/15||NM_181831.3:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding|1/17||NM_181832.3:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|5_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding|1/5||NM_181833.3:c.-110G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||0|0|2||,C|non_coding_transcript_exon_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA|1/8||NR_176267.1:n.257G>C||257|||||rs1800540||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29603889G>C|benign||1||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7TLW|promoter||||||||||rs1800540|||||||||||||||||||||chr22:g.29603889G>C|benign||1||||||||||;ClinVar_CLNDN=not_provided|Neurofibromatosis&_type_2;ClinVar_CLNHGVS=NC_000022.11:g.29603889G>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771|LOC130067184:130067184;ClinVar_Variation_ID=341066;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-21|4|26|46;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,ENSR22_B7TLW;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,.;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.;VEP_existing_InFrame_oORFs=0,0,0,0,0,.,.,0,0,0,.,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,.,.;VEP_existing_OutOfFrame_oORFs=0,0,0,0,0,.,.,0,0,0,.,0,0,0,0,0,0,4,0,0,4,0,0,0,0,0,0,0,0,0,6,0,0,0,0,0,0,0,0,.,.;VEP_existing_uORFs=2,2,2,2,3,.,.,3,2,3,.,3,3,2,2,3,2,2,2,2,2,2,2,2,2,2,2,2,15,2,2,3,2,2,2,2,2,2,2,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=723893;gnomADv4_1_AC_joint_XX=354890;gnomADv4_1_AC_joint_XY=369003;gnomADv4_1_AF_grpmax_joint=0.960747;gnomADv4_1_AF_joint=0.87533;gnomADv4_1_AF_joint_XX=0.876523;gnomADv4_1_AF_joint_XY=0.874187;gnomADv4_1_AN_grpmax_joint=37424;gnomADv4_1_AN_joint=826994;gnomADv4_1_AN_joint_XX=404884;gnomADv4_1_AN_joint_XY=422110;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=317277;gnomADv4_1_nhomalt_joint_XX=155744;gnomADv4_1_nhomalt_joint_XY=161533;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29605151 chr22_29605151_ATTTT_A;chr22_29605151_AT_A ATTTT A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=3.26;CADDIndel_Rawscore=0.298879;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+1058_114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||TTTT|TTTT||1|18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+1058_114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||TTTT|TTTT||1|18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+1058_114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||TTTT|TTTT||1|18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+1058_114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||TTTT|TTTT||1|18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+1058_114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||TTTT|TTTT||1|18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+1058_114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||TTTT|TTTT||1|18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+1058_114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||TTTT|TTTT||1|18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+1058_114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||TTTT|TTTT||1|18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+1058_114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||TTTT|TTTT||1|18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+1058_114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||TTTT|TTTT||1|18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+1058_114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||TTTT|TTTT||1|18|chr22:g.29605170_29605173del|||||||||||||,-|upstream_gene_variant|MODIFIER|RPEP4|ENSG00000233010|Transcript|ENST00000437636|processed_pseudogene||||||||||rs34646924|3745|1||HGNC|HGNC:44523|||||||||Ensembl||TTTT|TTTT||||chr22:g.29605170_29605173del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+1058_114+1061del|||||||rs34646924||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||TTTT|TTTT||1|18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.114+1058_114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||TTTT|TTTT||1|18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+1058_114+1061del|||||||rs34646924||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||TTTT|TTTT||1|18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+1058_114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||TTTT|TTTT||1|18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+1058_114+1061del|||||||rs34646924||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||TTTT|TTTT||1|18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-117+1058_-117+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-117+1058_-117+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+1058_-527+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+1058_-143+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||TTTT|TTTT|OK||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+1058_114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+1058_480+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||||||||RefSeq||TTTT|TTTT|||18|chr22:g.29605170_29605173del|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|24|26|-24|50;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000437636,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000233010,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,RPEP4,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29141;gnomADv4_1_AC_joint_XX=15892;gnomADv4_1_AC_joint_XY=13249;gnomADv4_1_AF_grpmax_joint=0.318225;gnomADv4_1_AF_joint=0.285366;gnomADv4_1_AF_joint_XX=0.291105;gnomADv4_1_AF_joint_XY=0.278774;gnomADv4_1_AN_grpmax_joint=52818;gnomADv4_1_AN_joint=102118;gnomADv4_1_AN_joint_XX=54592;gnomADv4_1_AN_joint_XY=47526;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3028;gnomADv4_1_nhomalt_joint_XX=1665;gnomADv4_1_nhomalt_joint_XY=1363;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29605151 chr22_29605151_ATTTT_A;chr22_29605151_AT_A AT A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=26;CADDIndel_PHREDscore=2.914;CADDIndel_Rawscore=0.266163;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1|21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1|21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1|21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1|21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1|21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1|21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1|21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1|21|chr22:g.29605173del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1|21|chr22:g.29605173del|||||||||||||,-|upstream_gene_variant|MODIFIER|RPEP4|ENSG00000233010|Transcript|ENST00000437636|processed_pseudogene||||||||||rs34646924|3748|1||HGNC|HGNC:44523|||||||||Ensembl||T|T||||chr22:g.29605173del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+1061del|||||||rs34646924||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|21|chr22:g.29605173del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1|21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+1061del|||||||rs34646924||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|21|chr22:g.29605173del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+1061del|||||||rs34646924||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1|21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+1061del|||||||rs34646924||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1|21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-117+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-117+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+1061del|||||||rs34646924||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T|||21|chr22:g.29605173del|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|26|50|-22|50;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000437636,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000233010,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,RPEP4,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53146;gnomADv4_1_AC_joint_XX=28278;gnomADv4_1_AC_joint_XY=24868;gnomADv4_1_AF_grpmax_joint=0.647965;gnomADv4_1_AF_joint=0.526146;gnomADv4_1_AF_joint_XX=0.523822;gnomADv4_1_AF_joint_XY=0.528814;gnomADv4_1_AN_grpmax_joint=3244;gnomADv4_1_AN_joint=101010;gnomADv4_1_AN_joint_XX=53984;gnomADv4_1_AN_joint_XY=47026;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11913;gnomADv4_1_nhomalt_joint_XX=6262;gnomADv4_1_nhomalt_joint_XY=5651;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29605458 chr22_29605458_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=3.04;CADD_Rawscore=0.278274;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+1346G>A|||||||rs67884471||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+1346G>A|||||||rs67884471||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+1346G>A|||||||rs67884471||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+1346G>A|||||||rs67884471||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+1346G>A|||||||rs67884471||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+1346G>A|||||||rs67884471||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+1346G>A|||||||rs67884471||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+1346G>A|||||||rs67884471||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+1346G>A|||||||rs67884471||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+1346G>A|||||||rs67884471||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29605458G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+1346G>A|||||||rs67884471||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29605458G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RPEP4|ENSG00000233010|Transcript|ENST00000437636|processed_pseudogene||||||||||rs67884471|3442|1||HGNC|HGNC:44523|||||||||Ensembl||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+1346G>A|||||||rs67884471||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29605458G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.114+1346G>A|||||||rs67884471||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+1346G>A|||||||rs67884471||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29605458G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+1346G>A|||||||rs67884471||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+1346G>A|||||||rs67884471||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-117+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-117+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+1346G>A|||||||rs67884471||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29605458G>A|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|14|43|-30|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000437636,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000233010,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,RPEP4,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36064;gnomADv4_1_AC_joint_XX=18892;gnomADv4_1_AC_joint_XY=17172;gnomADv4_1_AF_grpmax_joint=0.286453;gnomADv4_1_AF_joint=0.237413;gnomADv4_1_AF_joint_XX=0.243309;gnomADv4_1_AF_joint_XY=0.231248;gnomADv4_1_AN_grpmax_joint=67910;gnomADv4_1_AN_joint=151904;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=74258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4422;gnomADv4_1_nhomalt_joint_XX=2332;gnomADv4_1_nhomalt_joint_XY=2090;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29606141 chr22_29606141_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=1.529;CADD_Rawscore=0.093075;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+2029G>A|||||||rs2348683||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+2029G>A|||||||rs2348683||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+2029G>A|||||||rs2348683||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+2029G>A|||||||rs2348683||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+2029G>A|||||||rs2348683||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+2029G>A|||||||rs2348683||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+2029G>A|||||||rs2348683||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+2029G>A|||||||rs2348683||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+2029G>A|||||||rs2348683||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+2029G>A|||||||rs2348683||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29606141G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+2029G>A|||||||rs2348683||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29606141G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|RPEP4|ENSG00000233010|Transcript|ENST00000437636|processed_pseudogene||||||||||rs2348683|2759|1||HGNC|HGNC:44523|||||||||Ensembl||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+2029G>A|||||||rs2348683||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29606141G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.114+2029G>A|||||||rs2348683||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+2029G>A|||||||rs2348683||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29606141G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+2029G>A|||||||rs2348683||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+2029G>A|||||||rs2348683||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-117+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-117+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+2029G>A|||||||rs2348683||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29606141G>A|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|49|-5|-30|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000437636,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000233010,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,RPEP4,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36323;gnomADv4_1_AC_joint_XX=19029;gnomADv4_1_AC_joint_XY=17294;gnomADv4_1_AF_grpmax_joint=0.286595;gnomADv4_1_AF_joint=0.238945;gnomADv4_1_AF_joint_XX=0.24484;gnomADv4_1_AF_joint_XY=0.232778;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4451;gnomADv4_1_nhomalt_joint_XX=2357;gnomADv4_1_nhomalt_joint_XY=2094;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29606451 chr22_29606451_T_G T G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.113;CADD_Rawscore=0.17855;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+2339T>G|||||||rs9614004||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+2339T>G|||||||rs9614004||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+2339T>G|||||||rs9614004||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+2339T>G|||||||rs9614004||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+2339T>G|||||||rs9614004||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+2339T>G|||||||rs9614004||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+2339T>G|||||||rs9614004||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+2339T>G|||||||rs9614004||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+2339T>G|||||||rs9614004||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+2339T>G|||||||rs9614004||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29606451T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+2339T>G|||||||rs9614004||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29606451T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RPEP4|ENSG00000233010|Transcript|ENST00000437636|processed_pseudogene||||||||||rs9614004|2449|1||HGNC|HGNC:44523|||||||||Ensembl||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+2339T>G|||||||rs9614004||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29606451T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.114+2339T>G|||||||rs9614004||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+2339T>G|||||||rs9614004||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29606451T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+2339T>G|||||||rs9614004||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+2339T>G|||||||rs9614004||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-117+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-117+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+2339T>G|||||||rs9614004||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29606451T>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|1|9|1|9;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000437636,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000233010,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,RPEP4,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36124;gnomADv4_1_AC_joint_XX=18936;gnomADv4_1_AC_joint_XY=17188;gnomADv4_1_AF_grpmax_joint=0.286656;gnomADv4_1_AF_joint=0.237377;gnomADv4_1_AF_joint_XX=0.243381;gnomADv4_1_AF_joint_XY=0.231096;gnomADv4_1_AN_grpmax_joint=67984;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4431;gnomADv4_1_nhomalt_joint_XX=2342;gnomADv4_1_nhomalt_joint_XY=2089;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29606614 chr22_29606614_T_G T G 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=7.709;CADD_Rawscore=0.736266;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+2502T>G|||||||rs9614005||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+2502T>G|||||||rs9614005||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+2502T>G|||||||rs9614005||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+2502T>G|||||||rs9614005||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+2502T>G|||||||rs9614005||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+2502T>G|||||||rs9614005||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+2502T>G|||||||rs9614005||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+2502T>G|||||||rs9614005||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+2502T>G|||||||rs9614005||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+2502T>G|||||||rs9614005||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29606614T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+2502T>G|||||||rs9614005||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29606614T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RPEP4|ENSG00000233010|Transcript|ENST00000437636|processed_pseudogene||||||||||rs9614005|2286|1||HGNC|HGNC:44523|||||||||Ensembl||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+2502T>G|||||||rs9614005||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29606614T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.114+2502T>G|||||||rs9614005||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+2502T>G|||||||rs9614005||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29606614T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+2502T>G|||||||rs9614005||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+2502T>G|||||||rs9614005||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-117+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-117+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+2502T>G|||||||rs9614005||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29606614T>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|0|-35|0|12;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000437636,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000233010,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,RPEP4,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35933;gnomADv4_1_AC_joint_XX=18832;gnomADv4_1_AC_joint_XY=17101;gnomADv4_1_AF_grpmax_joint=0.28685;gnomADv4_1_AF_joint=0.239489;gnomADv4_1_AF_joint_XX=0.245138;gnomADv4_1_AF_joint_XY=0.233563;gnomADv4_1_AN_grpmax_joint=67910;gnomADv4_1_AN_joint=150040;gnomADv4_1_AN_joint_XX=76822;gnomADv4_1_AN_joint_XY=73218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4389;gnomADv4_1_nhomalt_joint_XX=2319;gnomADv4_1_nhomalt_joint_XY=2070;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29608172 chr22_29608172_C_CA C CA 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=18;CADDIndel_PHREDscore=0.496;CADDIndel_Rawscore=-0.19506;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+4085dup|||||||rs570144418||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+4085dup|||||||rs570144418||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+4085dup|||||||rs570144418||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+4085dup|||||||rs570144418||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+4085dup|||||||rs570144418||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+4085dup|||||||rs570144418||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+4085dup|||||||rs570144418||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+4085dup|||||||rs570144418||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+4085dup|||||||rs570144418||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+4085dup|||||||rs570144418||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|25|chr22:g.29608197dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+4085dup|||||||rs570144418||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|25|chr22:g.29608197dup|||||||||||||,A|upstream_gene_variant|MODIFIER|RPEP4|ENSG00000233010|Transcript|ENST00000437636|processed_pseudogene||||||||||rs570144418|727|1||HGNC|HGNC:44523|||||||||Ensembl|||||||chr22:g.29608197dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+4085dup|||||||rs570144418||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|25|chr22:g.29608197dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.114+4085dup|||||||rs570144418||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+4085dup|||||||rs570144418||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|25|chr22:g.29608197dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+4085dup|||||||rs570144418||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+4085dup|||||||rs570144418||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-117+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-117+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+4085dup|||||||rs570144418||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||25|chr22:g.29608197dup|||||||||||||;SpliceAI=CA|NF2|0.00|0.00|0.00|0.00|-15|3|25|1;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000437636,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000233010,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,RPEP4,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13068;gnomADv4_1_AC_joint_XX=7486;gnomADv4_1_AC_joint_XY=5582;gnomADv4_1_AF_grpmax_joint=0.662667;gnomADv4_1_AF_joint=0.410067;gnomADv4_1_AF_joint_XX=0.411048;gnomADv4_1_AF_joint_XY=0.408758;gnomADv4_1_AN_grpmax_joint=750;gnomADv4_1_AN_joint=31868;gnomADv4_1_AN_joint_XX=18212;gnomADv4_1_AN_joint_XY=13656;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3806;gnomADv4_1_nhomalt_joint_XX=2168;gnomADv4_1_nhomalt_joint_XY=1638;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29608940 chr22_29608940_C_T C T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.23;CADD_Rawscore=0.035983;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+4828C>T|||||||rs9614006||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+4828C>T|||||||rs9614006||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+4828C>T|||||||rs9614006||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+4828C>T|||||||rs9614006||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+4828C>T|||||||rs9614006||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+4828C>T|||||||rs9614006||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+4828C>T|||||||rs9614006||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+4828C>T|||||||rs9614006||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+4828C>T|||||||rs9614006||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+4828C>T|||||||rs9614006||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29608940C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+4828C>T|||||||rs9614006||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29608940C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RPEP4|ENSG00000233010|Transcript|ENST00000437636|processed_pseudogene|1/1||ENST00000437636.1:n.41C>T||41|||||rs9614006||1||HGNC|HGNC:44523|||||||||Ensembl||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+4828C>T|||||||rs9614006||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29608940C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.114+4828C>T|||||||rs9614006||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+4828C>T|||||||rs9614006||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29608940C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+4828C>T|||||||rs9614006||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+4828C>T|||||||rs9614006||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-117+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-117+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+4828C>T|||||||rs9614006||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29608940C>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|17|-41|17|-41;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000437636,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000233010,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,RPEP4,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=137770;gnomADv4_1_AC_joint_XX=67467;gnomADv4_1_AC_joint_XY=70303;gnomADv4_1_AF_grpmax_joint=0.27841;gnomADv4_1_AF_joint=0.236037;gnomADv4_1_AF_joint_XX=0.243609;gnomADv4_1_AF_joint_XY=0.2292;gnomADv4_1_AN_grpmax_joint=313940;gnomADv4_1_AN_joint=583680;gnomADv4_1_AN_joint_XX=276948;gnomADv4_1_AN_joint_XY=306732;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=17449;gnomADv4_1_nhomalt_joint_XX=8671;gnomADv4_1_nhomalt_joint_XY=8778;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29610033 chr22_29610033_T_TAG T TAG 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.666;CADDIndel_Rawscore=-0.121293;CSQ=AG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+5943_114+5944dup|||||||rs3074485||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+5943_114+5944dup|||||||rs3074485||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+5943_114+5944dup|||||||rs3074485||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+5943_114+5944dup|||||||rs3074485||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+5943_114+5944dup|||||||rs3074485||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+5943_114+5944dup|||||||rs3074485||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+5943_114+5944dup|||||||rs3074485||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+5943_114+5944dup|||||||rs3074485||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+5943_114+5944dup|||||||rs3074485||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+5943_114+5944dup|||||||rs3074485||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+5943_114+5944dup|||||||rs3074485||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|23|chr22:g.29610055_29610056dup|||||||||||||,AG|downstream_gene_variant|MODIFIER|RPEP4|ENSG00000233010|Transcript|ENST00000437636|processed_pseudogene||||||||||rs3074485|532|1||HGNC|HGNC:44523|||||||||Ensembl|||||||chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+5943_114+5944dup|||||||rs3074485||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.114+5943_114+5944dup|||||||rs3074485||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+5943_114+5944dup|||||||rs3074485||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+5943_114+5944dup|||||||rs3074485||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+5943_114+5944dup|||||||rs3074485||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-117+5943_-117+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-117+5943_-117+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+5943_-527+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+5943_-143+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+5943_114+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||,AG|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+5943_480+5944dup|||||||rs3074485||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||23|chr22:g.29610055_29610056dup|||||||||||||;TYPE=INDEL;VEP_Allele=AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG,AG;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000437636,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000233010,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,RPEP4,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=75308;gnomADv4_1_AC_joint_XX=38634;gnomADv4_1_AC_joint_XY=36674;gnomADv4_1_AF_grpmax_joint=0.627368;gnomADv4_1_AF_joint=0.508494;gnomADv4_1_AF_joint_XX=0.508115;gnomADv4_1_AF_joint_XY=0.508895;gnomADv4_1_AN_grpmax_joint=66838;gnomADv4_1_AN_joint=148100;gnomADv4_1_AN_joint_XX=76034;gnomADv4_1_AN_joint_XY=72066;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=20928;gnomADv4_1_nhomalt_joint_XX=10754;gnomADv4_1_nhomalt_joint_XY=10174;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29611819 chr22_29611819_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.381;CADD_Rawscore=0.066357;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+7707T>C|||||||rs2531844||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+7707T>C|||||||rs2531844||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+7707T>C|||||||rs2531844||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+7707T>C|||||||rs2531844||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+7707T>C|||||||rs2531844||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+7707T>C|||||||rs2531844||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+7707T>C|||||||rs2531844||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+7707T>C|||||||rs2531844||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+7707T>C|||||||rs2531844||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+7707T>C|||||||rs2531844||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29611819T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+7707T>C|||||||rs2531844||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29611819T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RPEP4|ENSG00000233010|Transcript|ENST00000437636|processed_pseudogene||||||||||rs2531844|2318|1||HGNC|HGNC:44523|||||||||Ensembl||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+7707T>C|||||||rs2531844||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29611819T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.114+7707T>C|||||||rs2531844||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+7707T>C|||||||rs2531844||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29611819T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+7707T>C|||||||rs2531844||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+7707T>C|||||||rs2531844||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-117+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-117+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+7707T>C|||||||rs2531844||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29611819T>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-24|19|10|-37;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000437636,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000233010,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,RPEP4,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71812;gnomADv4_1_AC_joint_XX=37195;gnomADv4_1_AC_joint_XY=34617;gnomADv4_1_AF_grpmax_joint=0.751932;gnomADv4_1_AF_joint=0.472534;gnomADv4_1_AF_joint_XX=0.478589;gnomADv4_1_AF_joint_XY=0.466197;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=151972;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17457;gnomADv4_1_nhomalt_joint_XX=9116;gnomADv4_1_nhomalt_joint_XY=8341;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29612472 chr22_29612472_G_A G A 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.164;CADD_Rawscore=0.021681;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+8360G>A|||||||rs2348684||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+8360G>A|||||||rs2348684||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+8360G>A|||||||rs2348684||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+8360G>A|||||||rs2348684||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+8360G>A|||||||rs2348684||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+8360G>A|||||||rs2348684||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+8360G>A|||||||rs2348684||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+8360G>A|||||||rs2348684||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+8360G>A|||||||rs2348684||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+8360G>A|||||||rs2348684||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29612472G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+8360G>A|||||||rs2348684||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29612472G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RPEP4|ENSG00000233010|Transcript|ENST00000437636|processed_pseudogene||||||||||rs2348684|2971|1||HGNC|HGNC:44523|||||||||Ensembl||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+8360G>A|||||||rs2348684||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29612472G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.114+8360G>A|||||||rs2348684||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+8360G>A|||||||rs2348684||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29612472G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+8360G>A|||||||rs2348684||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+8360G>A|||||||rs2348684||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-117+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-117+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+8360G>A|||||||rs2348684||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29612472G>A|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|14|-6|-7|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000437636,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000233010,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,RPEP4,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35706;gnomADv4_1_AC_joint_XX=18758;gnomADv4_1_AC_joint_XY=16948;gnomADv4_1_AF_grpmax_joint=0.285291;gnomADv4_1_AF_joint=0.236652;gnomADv4_1_AF_joint_XX=0.242634;gnomADv4_1_AF_joint_XY=0.230366;gnomADv4_1_AN_grpmax_joint=67822;gnomADv4_1_AN_joint=150880;gnomADv4_1_AN_joint_XX=77310;gnomADv4_1_AN_joint_XY=73570;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4345;gnomADv4_1_nhomalt_joint_XX=2303;gnomADv4_1_nhomalt_joint_XY=2042;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29612494 chr22_29612494_T_G T G 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=2.853;CADD_Rawscore=0.260186;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+8382T>G|||||||rs2531845||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+8382T>G|||||||rs2531845||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+8382T>G|||||||rs2531845||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+8382T>G|||||||rs2531845||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+8382T>G|||||||rs2531845||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+8382T>G|||||||rs2531845||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+8382T>G|||||||rs2531845||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+8382T>G|||||||rs2531845||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+8382T>G|||||||rs2531845||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+8382T>G|||||||rs2531845||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29612494T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+8382T>G|||||||rs2531845||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29612494T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RPEP4|ENSG00000233010|Transcript|ENST00000437636|processed_pseudogene||||||||||rs2531845|2993|1||HGNC|HGNC:44523|||||||||Ensembl||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+8382T>G|||||||rs2531845||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29612494T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.114+8382T>G|||||||rs2531845||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+8382T>G|||||||rs2531845||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29612494T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+8382T>G|||||||rs2531845||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+8382T>G|||||||rs2531845||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-117+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-117+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+8382T>G|||||||rs2531845||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29612494T>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|37|31|-29|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000437636,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000233010,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,RPEP4,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88382;gnomADv4_1_AC_joint_XX=44789;gnomADv4_1_AC_joint_XY=43593;gnomADv4_1_AF_grpmax_joint=0.7845;gnomADv4_1_AF_joint=0.585195;gnomADv4_1_AF_joint_XX=0.579043;gnomADv4_1_AF_joint_XY=0.591653;gnomADv4_1_AN_grpmax_joint=5058;gnomADv4_1_AN_joint=151030;gnomADv4_1_AN_joint_XX=77350;gnomADv4_1_AN_joint_XY=73680;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=26456;gnomADv4_1_nhomalt_joint_XX=13255;gnomADv4_1_nhomalt_joint_XY=13201;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29612568 chr22_29612568_C_T C T 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.785;CADD_Rawscore=0.13394;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+8456C>T|||||||rs138302895||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+8456C>T|||||||rs138302895||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+8456C>T|||||||rs138302895||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+8456C>T|||||||rs138302895||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+8456C>T|||||||rs138302895||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+8456C>T|||||||rs138302895||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+8456C>T|||||||rs138302895||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+8456C>T|||||||rs138302895||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+8456C>T|||||||rs138302895||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+8456C>T|||||||rs138302895||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29612568C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+8456C>T|||||||rs138302895||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29612568C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RPEP4|ENSG00000233010|Transcript|ENST00000437636|processed_pseudogene||||||||||rs138302895|3067|1||HGNC|HGNC:44523|||||||||Ensembl||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+8456C>T|||||||rs138302895||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29612568C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.114+8456C>T|||||||rs138302895||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+8456C>T|||||||rs138302895||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29612568C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+8456C>T|||||||rs138302895||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+8456C>T|||||||rs138302895||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-117+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-117+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+8456C>T|||||||rs138302895||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29612568C>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|-41|-43|46|-43;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000437636,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000233010,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,RPEP4,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=613;gnomADv4_1_AC_joint_XX=282;gnomADv4_1_AC_joint_XY=331;gnomADv4_1_AF_grpmax_joint=0.0102041;gnomADv4_1_AF_joint=0.00403853;gnomADv4_1_AF_joint_XX=0.00363243;gnomADv4_1_AF_joint_XY=0.00446368;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151788;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74154;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3;gnomADv4_1_nhomalt_joint_XX=2;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29612761 chr22_29612761_T_C T C 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.194;CADD_Rawscore=-0.435023;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+8649T>C|||||||rs2857634||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+8649T>C|||||||rs2857634||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+8649T>C|||||||rs2857634||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+8649T>C|||||||rs2857634||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+8649T>C|||||||rs2857634||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+8649T>C|||||||rs2857634||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+8649T>C|||||||rs2857634||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+8649T>C|||||||rs2857634||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+8649T>C|||||||rs2857634||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+8649T>C|||||||rs2857634||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29612761T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+8649T>C|||||||rs2857634||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29612761T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RPEP4|ENSG00000233010|Transcript|ENST00000437636|processed_pseudogene||||||||||rs2857634|3260|1||HGNC|HGNC:44523|||||||||Ensembl||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+8649T>C|||||||rs2857634||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29612761T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.114+8649T>C|||||||rs2857634||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+8649T>C|||||||rs2857634||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29612761T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+8649T>C|||||||rs2857634||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+8649T>C|||||||rs2857634||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-117+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-117+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+8649T>C|||||||rs2857634||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29612761T>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-25|41|12|41;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000437636,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000233010,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,RPEP4,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=138126;gnomADv4_1_AC_joint_XX=70803;gnomADv4_1_AC_joint_XY=67323;gnomADv4_1_AF_grpmax_joint=0.974233;gnomADv4_1_AF_joint=0.907375;gnomADv4_1_AF_joint_XX=0.90983;gnomADv4_1_AF_joint_XY=0.904806;gnomADv4_1_AN_grpmax_joint=41564;gnomADv4_1_AN_joint=152226;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=62854;gnomADv4_1_nhomalt_joint_XX=32306;gnomADv4_1_nhomalt_joint_XY=30548;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29613766 chr22_29613766_C_CT C CT 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.364;CADDIndel_Rawscore=-0.272879;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+9665dup|||||||rs113267526||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+9665dup|||||||rs113267526||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+9665dup|||||||rs113267526||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+9665dup|||||||rs113267526||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+9665dup|||||||rs113267526||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+9665dup|||||||rs113267526||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+9665dup|||||||rs113267526||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+9665dup|||||||rs113267526||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+9665dup|||||||rs113267526||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+9665dup|||||||rs113267526||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|11|chr22:g.29613777dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+9665dup|||||||rs113267526||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|11|chr22:g.29613777dup|||||||||||||,T|downstream_gene_variant|MODIFIER|RPEP4|ENSG00000233010|Transcript|ENST00000437636|processed_pseudogene||||||||||rs113267526|4265|1||HGNC|HGNC:44523|||||||||Ensembl|||||||chr22:g.29613777dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+9665dup|||||||rs113267526||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|11|chr22:g.29613777dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.114+9665dup|||||||rs113267526||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+9665dup|||||||rs113267526||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|11|chr22:g.29613777dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+9665dup|||||||rs113267526||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+9665dup|||||||rs113267526||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-117+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-117+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+9665dup|||||||rs113267526||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||11|chr22:g.29613777dup|||||||||||||;SpliceAI=CT|NF2|0.00|0.00|0.00|0.00|-24|15|-33|9;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000437636,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000233010,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,RPEP4,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22011;gnomADv4_1_AC_joint_XX=11316;gnomADv4_1_AC_joint_XY=10695;gnomADv4_1_AF_grpmax_joint=0.563257;gnomADv4_1_AF_joint=0.151815;gnomADv4_1_AF_joint_XX=0.151709;gnomADv4_1_AF_joint_XY=0.151926;gnomADv4_1_AN_grpmax_joint=4790;gnomADv4_1_AN_joint=144986;gnomADv4_1_AN_joint_XX=74590;gnomADv4_1_AN_joint_XY=70396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2276;gnomADv4_1_nhomalt_joint_XX=1158;gnomADv4_1_nhomalt_joint_XY=1118;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29615071 chr22_29615071_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=2.926;CADD_Rawscore=0.267322;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+10959C>T|||||||rs9608794||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+10959C>T|||||||rs9608794||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+10959C>T|||||||rs9608794||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+10959C>T|||||||rs9608794||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+10959C>T|||||||rs9608794||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+10959C>T|||||||rs9608794||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+10959C>T|||||||rs9608794||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+10959C>T|||||||rs9608794||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+10959C>T|||||||rs9608794||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+10959C>T|||||||rs9608794||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29615071C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+10959C>T|||||||rs9608794||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29615071C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+10959C>T|||||||rs9608794||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29615071C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.114+10959C>T|||||||rs9608794||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+10959C>T|||||||rs9608794||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29615071C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+10959C>T|||||||rs9608794||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+10959C>T|||||||rs9608794||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-117+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-117+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+10959C>T|||||||rs9608794||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29615071C>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|43|-6|-11|48;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35839;gnomADv4_1_AC_joint_XX=18785;gnomADv4_1_AC_joint_XY=17054;gnomADv4_1_AF_grpmax_joint=0.285691;gnomADv4_1_AF_joint=0.235848;gnomADv4_1_AF_joint_XX=0.241782;gnomADv4_1_AF_joint_XY=0.22964;gnomADv4_1_AN_grpmax_joint=67958;gnomADv4_1_AN_joint=151958;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4371;gnomADv4_1_nhomalt_joint_XX=2304;gnomADv4_1_nhomalt_joint_XY=2067;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29617820 chr22_29617820_A_G A G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.337;CADD_Rawscore=-0.292349;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+13708A>G|||||||rs2079647||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+13708A>G|||||||rs2079647||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+13708A>G|||||||rs2079647||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+13708A>G|||||||rs2079647||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+13708A>G|||||||rs2079647||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+13708A>G|||||||rs2079647||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+13708A>G|||||||rs2079647||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+13708A>G|||||||rs2079647||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+13708A>G|||||||rs2079647||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+13708A>G|||||||rs2079647||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29617820A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+13708A>G|||||||rs2079647||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29617820A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+13708A>G|||||||rs2079647||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29617820A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-10838A>G|||||||rs2079647||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+13708A>G|||||||rs2079647||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29617820A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+13708A>G|||||||rs2079647||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+13708A>G|||||||rs2079647||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-10838A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-10838A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+13708A>G|||||||rs2079647||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29617820A>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-31|-41|-6|-42;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71538;gnomADv4_1_AC_joint_XX=37067;gnomADv4_1_AC_joint_XY=34471;gnomADv4_1_AF_grpmax_joint=0.752028;gnomADv4_1_AF_joint=0.470533;gnomADv4_1_AF_joint_XX=0.476832;gnomADv4_1_AF_joint_XY=0.463943;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152036;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17324;gnomADv4_1_nhomalt_joint_XX=9056;gnomADv4_1_nhomalt_joint_XY=8268;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29618592 chr22_29618592_A_G A G 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=18.47;CADD_Rawscore=2.37984;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+14480A>G|||||||rs9614011||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+14480A>G|||||||rs9614011||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+14480A>G|||||||rs9614011||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+14480A>G|||||||rs9614011||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+14480A>G|||||||rs9614011||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+14480A>G|||||||rs9614011||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+14480A>G|||||||rs9614011||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+14480A>G|||||||rs9614011||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+14480A>G|||||||rs9614011||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+14480A>G|||||||rs9614011||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29618592A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+14480A>G|||||||rs9614011||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29618592A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+14480A>G|||||||rs9614011||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29618592A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-10066A>G|||||||rs9614011||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+14480A>G|||||||rs9614011||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29618592A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+14480A>G|||||||rs9614011||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+14480A>G|||||||rs9614011||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-10066A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-10066A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+14480A>G|||||||rs9614011||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29618592A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7TP3|enhancer||||||||||rs9614011|||||||||||||||||||||chr22:g.29618592A>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-24|2|-24|4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,ENSR22_B7TP3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,.;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36040;gnomADv4_1_AC_joint_XX=18885;gnomADv4_1_AC_joint_XY=17155;gnomADv4_1_AF_grpmax_joint=0.285777;gnomADv4_1_AF_joint=0.2369;gnomADv4_1_AF_joint_XX=0.242838;gnomADv4_1_AF_joint_XY=0.23069;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=152132;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4407;gnomADv4_1_nhomalt_joint_XX=2328;gnomADv4_1_nhomalt_joint_XY=2079;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29619326 chr22_29619326_C_T C T 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.25;CADD_Rawscore=-0.368849;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+15214C>T|||||||rs2857635||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+15214C>T|||||||rs2857635||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+15214C>T|||||||rs2857635||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+15214C>T|||||||rs2857635||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+15214C>T|||||||rs2857635||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+15214C>T|||||||rs2857635||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+15214C>T|||||||rs2857635||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+15214C>T|||||||rs2857635||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+15214C>T|||||||rs2857635||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+15214C>T|||||||rs2857635||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29619326C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+15214C>T|||||||rs2857635||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29619326C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+15214C>T|||||||rs2857635||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29619326C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-9332C>T|||||||rs2857635||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+15214C>T|||||||rs2857635||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29619326C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+15214C>T|||||||rs2857635||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+15214C>T|||||||rs2857635||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-9332C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-9332C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+15214C>T|||||||rs2857635||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29619326C>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|38|-45|-46|-4;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=132316;gnomADv4_1_AC_joint_XX=67721;gnomADv4_1_AC_joint_XY=64595;gnomADv4_1_AF_grpmax_joint=0.947011;gnomADv4_1_AF_joint=0.870305;gnomADv4_1_AF_joint_XX=0.87148;gnomADv4_1_AF_joint_XY=0.869077;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152034;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=57632;gnomADv4_1_nhomalt_joint_XX=29547;gnomADv4_1_nhomalt_joint_XY=28085;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29619386 chr22_29619386_T_TTTTG T TTTTG 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.195;CADDIndel_Rawscore=-0.433741;CSQ=TTTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+15298_114+15301dup|||||||rs199935839||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+15298_114+15301dup|||||||rs199935839||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+15298_114+15301dup|||||||rs199935839||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+15298_114+15301dup|||||||rs199935839||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+15298_114+15301dup|||||||rs199935839||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+15298_114+15301dup|||||||rs199935839||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+15298_114+15301dup|||||||rs199935839||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+15298_114+15301dup|||||||rs199935839||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+15298_114+15301dup|||||||rs199935839||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+15298_114+15301dup|||||||rs199935839||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+15298_114+15301dup|||||||rs199935839||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+15298_114+15301dup|||||||rs199935839||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-9248_115-9245dup|||||||rs199935839||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+15298_114+15301dup|||||||rs199935839||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+15298_114+15301dup|||||||rs199935839||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+15298_114+15301dup|||||||rs199935839||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-9248_-116-9245dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-9248_-116-9245dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+15298_-527+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+15298_-143+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+15298_114+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||,TTTG|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+15298_480+15301dup|||||||rs199935839||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||27|chr22:g.29619410_29619413dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG,TTTG;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27587;gnomADv4_1_AC_joint_XX=14245;gnomADv4_1_AC_joint_XY=13342;gnomADv4_1_AF_grpmax_joint=0.559597;gnomADv4_1_AF_joint=0.185634;gnomADv4_1_AF_joint_XX=0.186849;gnomADv4_1_AF_joint_XY=0.184353;gnomADv4_1_AN_grpmax_joint=4866;gnomADv4_1_AN_joint=148610;gnomADv4_1_AN_joint_XX=76238;gnomADv4_1_AN_joint_XY=72372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2912;gnomADv4_1_nhomalt_joint_XX=1467;gnomADv4_1_nhomalt_joint_XY=1445;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29619585 chr22_29619585_T_TG T TG 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.081;CADDIndel_Rawscore=-0.667856;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+15477dup|||||||rs34167297||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+15477dup|||||||rs34167297||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+15477dup|||||||rs34167297||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+15477dup|||||||rs34167297||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+15477dup|||||||rs34167297||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+15477dup|||||||rs34167297||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+15477dup|||||||rs34167297||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+15477dup|||||||rs34167297||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+15477dup|||||||rs34167297||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+15477dup|||||||rs34167297||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|4|chr22:g.29619589dup|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+15477dup|||||||rs34167297||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|4|chr22:g.29619589dup|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+15477dup|||||||rs34167297||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|4|chr22:g.29619589dup|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-9069dup|||||||rs34167297||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+15477dup|||||||rs34167297||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|4|chr22:g.29619589dup|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+15477dup|||||||rs34167297||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+15477dup|||||||rs34167297||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-9069dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-9069dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+15477dup|||||||rs34167297||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||4|chr22:g.29619589dup|||||||||||||;SpliceAI=TG|NF2|0.00|0.00|0.00|0.00|-6|-46|-12|-46;TYPE=INDEL;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35885;gnomADv4_1_AC_joint_XX=18821;gnomADv4_1_AC_joint_XY=17064;gnomADv4_1_AF_grpmax_joint=0.285765;gnomADv4_1_AF_joint=0.237319;gnomADv4_1_AF_joint_XX=0.243323;gnomADv4_1_AF_joint_XY=0.231032;gnomADv4_1_AN_grpmax_joint=67790;gnomADv4_1_AN_joint=151210;gnomADv4_1_AN_joint_XX=77350;gnomADv4_1_AN_joint_XY=73860;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4376;gnomADv4_1_nhomalt_joint_XX=2314;gnomADv4_1_nhomalt_joint_XY=2062;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29620389 chr22_29620389_A_C A C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=5.485;CADD_Rawscore=0.502128;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+16277A>C|||||||rs9608798||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.114+16277A>C|||||||rs9608798||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+16277A>C|||||||rs9608798||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.114+16277A>C|||||||rs9608798||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.114+16277A>C|||||||rs9608798||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+16277A>C|||||||rs9608798||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.114+16277A>C|||||||rs9608798||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.114+16277A>C|||||||rs9608798||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.114+16277A>C|||||||rs9608798||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.114+16277A>C|||||||rs9608798||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29620389A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+16277A>C|||||||rs9608798||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29620389A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.114+16277A>C|||||||rs9608798||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29620389A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-8269A>C|||||||rs9608798||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.114+16277A>C|||||||rs9608798||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29620389A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.114+16277A>C|||||||rs9608798||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+16277A>C|||||||rs9608798||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-8269A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-8269A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-527+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-143+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.114+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+16277A>C|||||||rs9608798||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29620389A>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|3|15|-42|15;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36048;gnomADv4_1_AC_joint_XX=18890;gnomADv4_1_AC_joint_XY=17158;gnomADv4_1_AF_grpmax_joint=0.285922;gnomADv4_1_AF_joint=0.237008;gnomADv4_1_AF_joint_XX=0.242939;gnomADv4_1_AF_joint_XY=0.230804;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4411;gnomADv4_1_nhomalt_joint_XX=2331;gnomADv4_1_nhomalt_joint_XY=2080;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29620524 chr22_29620524_AG_A AG A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.966;CADDIndel_Rawscore=-0.026878;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+16414del|||||||rs34637633||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1|1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-16225del|||||||rs34637633||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1|1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+16414del|||||||rs34637633||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1|1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-16225del|||||||rs34637633||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1|1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-16225del|||||||rs34637633||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1|1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+16414del|||||||rs34637633||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1|1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-16225del|||||||rs34637633||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1|1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-16225del|||||||rs34637633||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1|1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-16225del|||||||rs34637633||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1|1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-16225del|||||||rs34637633||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1|1|chr22:g.29620526del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+16414del|||||||rs34637633||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1|1|chr22:g.29620526del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-16225del|||||||rs34637633||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1|1|chr22:g.29620526del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-8132del|||||||rs34637633||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1|1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-16225del|||||||rs34637633||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1|1|chr22:g.29620526del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-16225del|||||||rs34637633||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1|1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+16414del|||||||rs34637633||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1|1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-16225del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-8132del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-16225del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+16414del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-8132del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-16225del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-16225del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-16225del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-16225del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-16225del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+16414del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+16414del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-16225del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-16225del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-16225del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-16225del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-16225del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+16414del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-16225del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+16414del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+16414del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-16225del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-16225del|||||||rs34637633||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+16414del|||||||rs34637633||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G|||1|chr22:g.29620526del|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|-11|-32|-16|1;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35796;gnomADv4_1_AC_joint_XX=18772;gnomADv4_1_AC_joint_XY=17024;gnomADv4_1_AF_grpmax_joint=0.288079;gnomADv4_1_AF_joint=0.243945;gnomADv4_1_AF_joint_XX=0.248623;gnomADv4_1_AF_joint_XY=0.238987;gnomADv4_1_AN_grpmax_joint=67190;gnomADv4_1_AN_joint=146738;gnomADv4_1_AN_joint_XX=75504;gnomADv4_1_AN_joint_XY=71234;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4352;gnomADv4_1_nhomalt_joint_XX=2302;gnomADv4_1_nhomalt_joint_XY=2050;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29621011 chr22_29621011_G_C G C 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.764;CADD_Rawscore=-0.086797;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+16899G>C|||||||rs1006396||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-15740G>C|||||||rs1006396||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+16899G>C|||||||rs1006396||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-15740G>C|||||||rs1006396||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-15740G>C|||||||rs1006396||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.114+16899G>C|||||||rs1006396||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-15740G>C|||||||rs1006396||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-15740G>C|||||||rs1006396||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-15740G>C|||||||rs1006396||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-15740G>C|||||||rs1006396||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29621011G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+16899G>C|||||||rs1006396||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29621011G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-15740G>C|||||||rs1006396||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29621011G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-7647G>C|||||||rs1006396||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-15740G>C|||||||rs1006396||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29621011G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-15740G>C|||||||rs1006396||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+16899G>C|||||||rs1006396||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-15740G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-7647G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-15740G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.114+16899G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-7647G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-15740G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-15740G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-15740G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-15740G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-15740G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+16899G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+16899G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-15740G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-15740G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-15740G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-15740G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-15740G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.114+16899G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-15740G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+16899G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+16899G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-15740G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-15740G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+16899G>C|||||||rs1006396||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29621011G>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-50|-1|44|-38;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22906;gnomADv4_1_AC_joint_XX=11676;gnomADv4_1_AC_joint_XY=11230;gnomADv4_1_AF_grpmax_joint=0.56695;gnomADv4_1_AF_joint=0.150491;gnomADv4_1_AF_joint_XX=0.150093;gnomADv4_1_AF_joint_XY=0.150908;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152208;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2399;gnomADv4_1_nhomalt_joint_XX=1208;gnomADv4_1_nhomalt_joint_XY=1191;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29622211 chr22_29622211_A_G A G 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.68;CADD_Rawscore=0.117929;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+18099A>G|||||||rs9614014||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-14540A>G|||||||rs9614014||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+18099A>G|||||||rs9614014||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-14540A>G|||||||rs9614014||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-14540A>G|||||||rs9614014||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-16879A>G|||||||rs9614014||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-14540A>G|||||||rs9614014||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-14540A>G|||||||rs9614014||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-14540A>G|||||||rs9614014||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-14540A>G|||||||rs9614014||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29622211A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+18099A>G|||||||rs9614014||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29622211A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-14540A>G|||||||rs9614014||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29622211A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-6447A>G|||||||rs9614014||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-14540A>G|||||||rs9614014||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29622211A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-14540A>G|||||||rs9614014||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+18099A>G|||||||rs9614014||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-14540A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-6447A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-14540A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-16879A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-6447A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-14540A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-14540A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-14540A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-14540A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-14540A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+18099A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+18099A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-14540A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-14540A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-14540A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-14540A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-14540A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-16879A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-14540A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+18099A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+18099A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-14540A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-14540A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+18099A>G|||||||rs9614014||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29622211A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7TPL|enhancer||||||||||rs9614014|||||||||||||||||||||chr22:g.29622211A>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|1|23|1|-17;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,ENSR22_B7TPL;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,.;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36066;gnomADv4_1_AC_joint_XX=18887;gnomADv4_1_AC_joint_XY=17179;gnomADv4_1_AF_grpmax_joint=0.285792;gnomADv4_1_AF_joint=0.237002;gnomADv4_1_AF_joint_XX=0.242876;gnomADv4_1_AF_joint_XY=0.230863;gnomADv4_1_AN_grpmax_joint=67990;gnomADv4_1_AN_joint=152176;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4414;gnomADv4_1_nhomalt_joint_XX=2325;gnomADv4_1_nhomalt_joint_XY=2089;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29622646 chr22_29622646_A_AT A AT 10 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=10;CADDIndel_PHREDscore=0.914;CADDIndel_Rawscore=-0.041071;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.114+18561dup|||||||rs35744962||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-14078dup|||||||rs35744962||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.114+18561dup|||||||rs35744962||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-14078dup|||||||rs35744962||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-14078dup|||||||rs35744962||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-16417dup|||||||rs35744962||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-14078dup|||||||rs35744962||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-14078dup|||||||rs35744962||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-14078dup|||||||rs35744962||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-14078dup|||||||rs35744962||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|27|chr22:g.29622673dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.114+18561dup|||||||rs35744962||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|27|chr22:g.29622673dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-14078dup|||||||rs35744962||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|27|chr22:g.29622673dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-5985dup|||||||rs35744962||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-14078dup|||||||rs35744962||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|27|chr22:g.29622673dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-14078dup|||||||rs35744962||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.114+18561dup|||||||rs35744962||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-14078dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-5985dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-14078dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-16417dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-5985dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-14078dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-14078dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-14078dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-14078dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-14078dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.114+18561dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.114+18561dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-14078dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-14078dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-14078dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-14078dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-14078dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-16417dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-14078dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.114+18561dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.114+18561dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-14078dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-14078dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.480+18561dup|||||||rs35744962||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||27|chr22:g.29622673dup|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7TPL|enhancer||||||||||rs35744962|||||||||||||||||||||chr22:g.29622673dup|||||||||||||;SpliceAI=AT|NF2|0.00|0.00|0.00|0.00|-21|31|-23|11;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,ENSR22_B7TPL;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,.;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24080;gnomADv4_1_AC_joint_XX=13959;gnomADv4_1_AC_joint_XY=10121;gnomADv4_1_AF_grpmax_joint=0.813136;gnomADv4_1_AF_joint=0.380003;gnomADv4_1_AF_joint_XX=0.399926;gnomADv4_1_AF_joint_XY=0.355572;gnomADv4_1_AN_grpmax_joint=1964;gnomADv4_1_AN_joint=63368;gnomADv4_1_AN_joint_XX=34904;gnomADv4_1_AN_joint_XY=28464;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8494;gnomADv4_1_nhomalt_joint_XX=4952;gnomADv4_1_nhomalt_joint_XY=3542;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29623737 chr22_29623737_C_T C T 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=1.821;CADD_Rawscore=0.139125;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-18465C>T|||||||rs9608799||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-13014C>T|||||||rs9608799||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-18465C>T|||||||rs9608799||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-13014C>T|||||||rs9608799||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-13014C>T|||||||rs9608799||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-15353C>T|||||||rs9608799||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-13014C>T|||||||rs9608799||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-13014C>T|||||||rs9608799||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-13014C>T|||||||rs9608799||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-13014C>T|||||||rs9608799||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29623737C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-18465C>T|||||||rs9608799||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29623737C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-13014C>T|||||||rs9608799||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29623737C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-4921C>T|||||||rs9608799||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-13014C>T|||||||rs9608799||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29623737C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-13014C>T|||||||rs9608799||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-18465C>T|||||||rs9608799||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-13014C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-4921C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-13014C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-15353C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-4921C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-13014C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-13014C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-13014C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-13014C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-13014C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-18465C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-18465C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-13014C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-13014C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-13014C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-13014C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-13014C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-15353C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-13014C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-18465C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-18465C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-13014C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-13014C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-18465C>T|||||||rs9608799||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs9608799|4892|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs9608799|4892|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29623737C>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|26|11|-34|11;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35848;gnomADv4_1_AC_joint_XX=18782;gnomADv4_1_AC_joint_XY=17066;gnomADv4_1_AF_grpmax_joint=0.285689;gnomADv4_1_AF_joint=0.235805;gnomADv4_1_AF_joint_XX=0.24165;gnomADv4_1_AF_joint_XY=0.22969;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=152024;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4377;gnomADv4_1_nhomalt_joint_XX=2307;gnomADv4_1_nhomalt_joint_XY=2070;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29624799 chr22_29624799_CTCTTTCTTTCTT_C;chr22_29624799_CTCTTTCTT_C CTCTTTCTTTCTT C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.661;CADDIndel_Rawscore=-0.123394;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-17343_115-17332del|||||||rs57743070||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||TCTTTCTTTCTT|TCTTTCTTTCTT||1|59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-11892_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||TCTTTCTTTCTT|TCTTTCTTTCTT||1|59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-17343_115-17332del|||||||rs57743070||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||TCTTTCTTTCTT|TCTTTCTTTCTT||1|59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-11892_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||TCTTTCTTTCTT|TCTTTCTTTCTT||1|59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-11892_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||TCTTTCTTTCTT|TCTTTCTTTCTT||1|59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-14231_115-14220del|||||||rs57743070||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||TCTTTCTTTCTT|TCTTTCTTTCTT||1|59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-11892_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||TCTTTCTTTCTT|TCTTTCTTTCTT||1|59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-11892_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||TCTTTCTTTCTT|TCTTTCTTTCTT||1|59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-11892_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||TCTTTCTTTCTT|TCTTTCTTTCTT||1|59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-11892_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||TCTTTCTTTCTT|TCTTTCTTTCTT||1|59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-17343_115-17332del|||||||rs57743070||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||TCTTTCTTTCTT|TCTTTCTTTCTT||1|59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-11892_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||TCTTTCTTTCTT|TCTTTCTTTCTT||1|59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-3799_115-3788del|||||||rs57743070||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||TCTTTCTTTCTT|TCTTTCTTTCTT||1|59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-11892_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||TCTTTCTTTCTT|TCTTTCTTTCTT||1|59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-11892_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||TCTTTCTTTCTT|TCTTTCTTTCTT||1|59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-17343_115-17332del|||||||rs57743070||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||TCTTTCTTTCTT|TCTTTCTTTCTT||1|59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-11892_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-3799_-116-3788del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-11892_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-14231_115-14220del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-3799_-116-3788del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-11892_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-11892_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-11892_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-11892_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-11892_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-17343_115-17332del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-17343_115-17332del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-11892_-526-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-11892_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-11892_-142-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-11892_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|OK||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-11892_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-14231_115-14220del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-11892_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-17343_115-17332del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-17343_115-17332del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-11892_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-11892_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-17343_481-17332del|||||||rs57743070||1||EntrezGene|HGNC:7773|||||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT|||59|chr22:g.29624859_29624870del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs57743070|3818|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT||||chr22:g.29624859_29624870del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs57743070|3818|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||TCTTTCTTTCTT|TCTTTCTTTCTT||||chr22:g.29624859_29624870del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17424;gnomADv4_1_AC_joint_XX=9288;gnomADv4_1_AC_joint_XY=8136;gnomADv4_1_AF_grpmax_joint=0.162292;gnomADv4_1_AF_joint=0.149529;gnomADv4_1_AF_joint_XX=0.151364;gnomADv4_1_AF_joint_XY=0.147487;gnomADv4_1_AN_grpmax_joint=3124;gnomADv4_1_AN_joint=116526;gnomADv4_1_AN_joint_XX=61362;gnomADv4_1_AN_joint_XY=55164;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1462;gnomADv4_1_nhomalt_joint_XX=817;gnomADv4_1_nhomalt_joint_XY=645;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29624799 chr22_29624799_CTCTTTCTTTCTT_C;chr22_29624799_CTCTTTCTT_C CTCTTTCTT C 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.7;CADDIndel_Rawscore=-0.108933;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-17339_115-17332del|||||||rs57743070||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||TCTTTCTT|TCTTTCTT||1|63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-11888_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||TCTTTCTT|TCTTTCTT||1|63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-17339_115-17332del|||||||rs57743070||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||TCTTTCTT|TCTTTCTT||1|63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-11888_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||TCTTTCTT|TCTTTCTT||1|63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-11888_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||TCTTTCTT|TCTTTCTT||1|63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-14227_115-14220del|||||||rs57743070||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||TCTTTCTT|TCTTTCTT||1|63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-11888_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||TCTTTCTT|TCTTTCTT||1|63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-11888_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||TCTTTCTT|TCTTTCTT||1|63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-11888_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||TCTTTCTT|TCTTTCTT||1|63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-11888_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||TCTTTCTT|TCTTTCTT||1|63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-17339_115-17332del|||||||rs57743070||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||TCTTTCTT|TCTTTCTT||1|63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-11888_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||TCTTTCTT|TCTTTCTT||1|63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-3795_115-3788del|||||||rs57743070||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||TCTTTCTT|TCTTTCTT||1|63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-11888_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||TCTTTCTT|TCTTTCTT||1|63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-11888_115-11881del|||||||rs57743070||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||TCTTTCTT|TCTTTCTT||1|63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-17339_115-17332del|||||||rs57743070||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||TCTTTCTT|TCTTTCTT||1|63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-11888_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-3795_-116-3788del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-11888_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-14227_115-14220del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-3795_-116-3788del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-11888_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-11888_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-11888_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-11888_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-11888_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-17339_115-17332del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-17339_115-17332del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-11888_-526-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-11888_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-11888_-142-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-11888_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||TCTTTCTT|TCTTTCTT|OK||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-11888_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-14227_115-14220del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-11888_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-17339_115-17332del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-17339_115-17332del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-11888_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-11888_115-11881del|||||||rs57743070||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-17339_481-17332del|||||||rs57743070||1||EntrezGene|HGNC:7773|||||||||RefSeq||TCTTTCTT|TCTTTCTT|||63|chr22:g.29624863_29624870del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs57743070|3822|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||TCTTTCTT|TCTTTCTT||||chr22:g.29624863_29624870del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs57743070|3822|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||TCTTTCTT|TCTTTCTT||||chr22:g.29624863_29624870del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27111;gnomADv4_1_AC_joint_XX=14373;gnomADv4_1_AC_joint_XY=12738;gnomADv4_1_AF_grpmax_joint=0.256198;gnomADv4_1_AF_joint=0.233041;gnomADv4_1_AF_joint_XX=0.234539;gnomADv4_1_AF_joint_XY=0.231373;gnomADv4_1_AN_grpmax_joint=242;gnomADv4_1_AN_joint=116336;gnomADv4_1_AN_joint_XX=61282;gnomADv4_1_AN_joint_XY=55054;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3495;gnomADv4_1_nhomalt_joint_XX=1837;gnomADv4_1_nhomalt_joint_XY=1658;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29624901 chr22_29624901_T_TTCTCTC T TTCTCTC 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.501;CADDIndel_Rawscore=-0.192506;CSQ=TCTCTC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-17285_115-17280dup|||||||rs141837477||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-11834_115-11829dup|||||||rs141837477||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-17285_115-17280dup|||||||rs141837477||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-11834_115-11829dup|||||||rs141837477||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-11834_115-11829dup|||||||rs141837477||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-14173_115-14168dup|||||||rs141837477||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-11834_115-11829dup|||||||rs141837477||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-11834_115-11829dup|||||||rs141837477||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-11834_115-11829dup|||||||rs141837477||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-11834_115-11829dup|||||||rs141837477||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-17285_115-17280dup|||||||rs141837477||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-11834_115-11829dup|||||||rs141837477||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-3741_115-3736dup|||||||rs141837477||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-11834_115-11829dup|||||||rs141837477||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-11834_115-11829dup|||||||rs141837477||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-17285_115-17280dup|||||||rs141837477||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-11834_115-11829dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-3741_-116-3736dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-11834_115-11829dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-14173_115-14168dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-3741_-116-3736dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-11834_115-11829dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-11834_115-11829dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-11834_115-11829dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-11834_115-11829dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-11834_115-11829dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-17285_115-17280dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-17285_115-17280dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-11834_-526-11829dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-11834_115-11829dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-11834_-142-11829dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-11834_115-11829dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-11834_115-11829dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-14173_115-14168dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-11834_115-11829dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-17285_115-17280dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-17285_115-17280dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-11834_115-11829dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-11834_115-11829dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-17285_481-17280dup|||||||rs141837477||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||21|chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs141837477|3727|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq|||||||chr22:g.29624917_29624922dup|||||||||||||,TCTCTC|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs141837477|3727|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq|||||||chr22:g.29624917_29624922dup|||||||||||||;TYPE=INDEL;VEP_Allele=TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC,TCTCTC;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=419;gnomADv4_1_AC_joint_XX=204;gnomADv4_1_AC_joint_XY=215;gnomADv4_1_AF_grpmax_joint=0.0070922;gnomADv4_1_AF_joint=0.00292459;gnomADv4_1_AF_joint_XX=0.00277008;gnomADv4_1_AF_joint_XY=0.00308802;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=143268;gnomADv4_1_AN_joint_XX=73644;gnomADv4_1_AN_joint_XY=69624;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29626153 chr22_29626153_C_CT C CT 28 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=28;CADDIndel_PHREDscore=0.259;CADDIndel_Rawscore=-0.359918;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-16030dup|||||||rs34704204||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-10579dup|||||||rs34704204||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-16030dup|||||||rs34704204||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-10579dup|||||||rs34704204||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-10579dup|||||||rs34704204||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-12918dup|||||||rs34704204||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-10579dup|||||||rs34704204||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-10579dup|||||||rs34704204||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-10579dup|||||||rs34704204||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-10579dup|||||||rs34704204||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|19|chr22:g.29626172dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-16030dup|||||||rs34704204||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|19|chr22:g.29626172dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-10579dup|||||||rs34704204||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|19|chr22:g.29626172dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-2486dup|||||||rs34704204||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-10579dup|||||||rs34704204||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|19|chr22:g.29626172dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-10579dup|||||||rs34704204||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-16030dup|||||||rs34704204||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-10579dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-2486dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-10579dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-12918dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-2486dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-10579dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-10579dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-10579dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-10579dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-10579dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-16030dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-16030dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-10579dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-10579dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-10579dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-10579dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-10579dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-12918dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-10579dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-16030dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-16030dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-10579dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-10579dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-16030dup|||||||rs34704204||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||19|chr22:g.29626172dup|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs34704204|2475|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq|||||||chr22:g.29626172dup|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs34704204|2475|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq|||||||chr22:g.29626172dup|||||||||||||;SpliceAI=CT|NF2|0.00|0.00|0.00|0.00|46|23|23|18;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18817;gnomADv4_1_AC_joint_XX=10063;gnomADv4_1_AC_joint_XY=8754;gnomADv4_1_AF_grpmax_joint=0.558952;gnomADv4_1_AF_joint=0.146797;gnomADv4_1_AF_joint_XX=0.149556;gnomADv4_1_AF_joint_XY=0.143749;gnomADv4_1_AN_grpmax_joint=4122;gnomADv4_1_AN_joint=128184;gnomADv4_1_AN_joint_XX=67286;gnomADv4_1_AN_joint_XY=60898;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2176;gnomADv4_1_nhomalt_joint_XX=1138;gnomADv4_1_nhomalt_joint_XY=1038;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29626278 chr22_29626278_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.916;CADD_Rawscore=-0.040332;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-15924C>T|||||||rs9608800||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-10473C>T|||||||rs9608800||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-15924C>T|||||||rs9608800||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-10473C>T|||||||rs9608800||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-10473C>T|||||||rs9608800||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-12812C>T|||||||rs9608800||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-10473C>T|||||||rs9608800||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-10473C>T|||||||rs9608800||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-10473C>T|||||||rs9608800||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-10473C>T|||||||rs9608800||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29626278C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-15924C>T|||||||rs9608800||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29626278C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-10473C>T|||||||rs9608800||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29626278C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-2380C>T|||||||rs9608800||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-10473C>T|||||||rs9608800||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29626278C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-10473C>T|||||||rs9608800||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-15924C>T|||||||rs9608800||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-10473C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-2380C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-10473C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-12812C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-2380C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-10473C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-10473C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-10473C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-10473C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-10473C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-15924C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-15924C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-10473C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-10473C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-10473C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-10473C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-10473C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-12812C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-10473C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-15924C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-15924C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-10473C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-10473C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-15924C>T|||||||rs9608800||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs9608800|2351|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs9608800|2351|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29626278C>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|39|19|47|18;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17649;gnomADv4_1_AC_joint_XX=9552;gnomADv4_1_AC_joint_XY=8097;gnomADv4_1_AF_grpmax_joint=0.183326;gnomADv4_1_AF_joint=0.116392;gnomADv4_1_AF_joint_XX=0.123188;gnomADv4_1_AF_joint_XY=0.10928;gnomADv4_1_AN_grpmax_joint=67868;gnomADv4_1_AN_joint=151634;gnomADv4_1_AN_joint_XX=77540;gnomADv4_1_AN_joint_XY=74094;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1340;gnomADv4_1_nhomalt_joint_XX=777;gnomADv4_1_nhomalt_joint_XY=563;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29626947 chr22_29626947_A_G A G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.035;CADD_Rawscore=-0.900881;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-15255A>G|||||||rs2247753||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-9804A>G|||||||rs2247753||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-15255A>G|||||||rs2247753||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-9804A>G|||||||rs2247753||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-9804A>G|||||||rs2247753||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-12143A>G|||||||rs2247753||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-9804A>G|||||||rs2247753||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-9804A>G|||||||rs2247753||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-9804A>G|||||||rs2247753||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-9804A>G|||||||rs2247753||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29626947A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-15255A>G|||||||rs2247753||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29626947A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-9804A>G|||||||rs2247753||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29626947A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-1711A>G|||||||rs2247753||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-9804A>G|||||||rs2247753||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29626947A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-9804A>G|||||||rs2247753||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-15255A>G|||||||rs2247753||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-9804A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-1711A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-9804A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-12143A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-1711A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-9804A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-9804A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-9804A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-9804A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-9804A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-15255A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-15255A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-9804A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-9804A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-9804A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-9804A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-9804A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-12143A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-9804A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-15255A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-15255A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-9804A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-9804A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-15255A>G|||||||rs2247753||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs2247753|1682|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs2247753|1682|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29626947A>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|12|2|-16|-21;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22912;gnomADv4_1_AC_joint_XX=11631;gnomADv4_1_AC_joint_XY=11281;gnomADv4_1_AF_grpmax_joint=0.566216;gnomADv4_1_AF_joint=0.150551;gnomADv4_1_AF_joint_XX=0.149553;gnomADv4_1_AF_joint_XY=0.151594;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152188;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2433;gnomADv4_1_nhomalt_joint_XX=1218;gnomADv4_1_nhomalt_joint_XY=1215;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29627971 chr22_29627971_G_T G T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=12.65;CADD_Rawscore=1.26252;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-14231G>T|||||||rs9614018||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-8780G>T|||||||rs9614018||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-14231G>T|||||||rs9614018||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-8780G>T|||||||rs9614018||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-8780G>T|||||||rs9614018||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-11119G>T|||||||rs9614018||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-8780G>T|||||||rs9614018||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-8780G>T|||||||rs9614018||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-8780G>T|||||||rs9614018||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-8780G>T|||||||rs9614018||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29627971G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-14231G>T|||||||rs9614018||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29627971G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-8780G>T|||||||rs9614018||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29627971G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-687G>T|||||||rs9614018||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-8780G>T|||||||rs9614018||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29627971G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-8780G>T|||||||rs9614018||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-14231G>T|||||||rs9614018||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-8780G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-687G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-8780G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-11119G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-687G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-8780G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-8780G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-8780G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-8780G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-8780G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-14231G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-14231G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-8780G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-8780G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-8780G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-8780G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-8780G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-11119G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-8780G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-14231G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-14231G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-8780G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-8780G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-14231G>T|||||||rs9614018||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs9614018|658|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs9614018|658|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29627971G>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|39|7|39|-1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35869;gnomADv4_1_AC_joint_XX=18800;gnomADv4_1_AC_joint_XY=17069;gnomADv4_1_AF_grpmax_joint=0.285887;gnomADv4_1_AF_joint=0.235797;gnomADv4_1_AF_joint_XX=0.241701;gnomADv4_1_AF_joint_XY=0.22962;gnomADv4_1_AN_grpmax_joint=68006;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4379;gnomADv4_1_nhomalt_joint_XX=2312;gnomADv4_1_nhomalt_joint_XY=2067;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29628140 chr22_29628140_C_CTG;chr22_29628140_CTGTGTG_C C CTG 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=31;CADDIndel_PHREDscore=0.398;CADDIndel_Rawscore=-0.250676;CSQ=TG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-14018_115-14017dup|||||||rs3138701||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-8567_115-8566dup|||||||rs3138701||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-14018_115-14017dup|||||||rs3138701||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-8567_115-8566dup|||||||rs3138701||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-8567_115-8566dup|||||||rs3138701||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-10906_115-10905dup|||||||rs3138701||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-8567_115-8566dup|||||||rs3138701||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-8567_115-8566dup|||||||rs3138701||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-8567_115-8566dup|||||||rs3138701||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-8567_115-8566dup|||||||rs3138701||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-14018_115-14017dup|||||||rs3138701||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-8567_115-8566dup|||||||rs3138701||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-474_115-473dup|||||||rs3138701||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-8567_115-8566dup|||||||rs3138701||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-8567_115-8566dup|||||||rs3138701||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-14018_115-14017dup|||||||rs3138701||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-8567_115-8566dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-474_-116-473dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-8567_115-8566dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-10906_115-10905dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-474_-116-473dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-8567_115-8566dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-8567_115-8566dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-8567_115-8566dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-8567_115-8566dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-8567_115-8566dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-14018_115-14017dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-14018_115-14017dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-8567_-526-8566dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-8567_115-8566dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-8567_-142-8566dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-8567_115-8566dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-8567_115-8566dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-10906_115-10905dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-8567_115-8566dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-14018_115-14017dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-14018_115-14017dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-8567_115-8566dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-8567_115-8566dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-14018_481-14017dup|||||||rs3138701||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||45|chr22:g.29628184_29628185dup|||||||||||||,TG|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs3138701|488|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq|||||||chr22:g.29628184_29628185dup|||||||||||||,TG|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs3138701|488|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq|||||||chr22:g.29628184_29628185dup|||||||||||||;TYPE=INDEL;VEP_Allele=TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31130;gnomADv4_1_AC_joint_XX=16245;gnomADv4_1_AC_joint_XY=14885;gnomADv4_1_AF_grpmax_joint=0.304534;gnomADv4_1_AF_joint=0.223212;gnomADv4_1_AF_joint_XX=0.224378;gnomADv4_1_AF_joint_XY=0.221952;gnomADv4_1_AN_grpmax_joint=4676;gnomADv4_1_AN_joint=139464;gnomADv4_1_AN_joint_XX=72400;gnomADv4_1_AN_joint_XY=67064;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3258;gnomADv4_1_nhomalt_joint_XX=1687;gnomADv4_1_nhomalt_joint_XY=1571;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29628140 chr22_29628140_C_CTG;chr22_29628140_CTGTGTG_C CTGTGTG C 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=31;CADDIndel_PHREDscore=1.457;CADDIndel_Rawscore=0.080407;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-14022_115-14017del|||||||rs3138701||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||TGTGTG|TGTGTG||1|39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-8571_115-8566del|||||||rs3138701||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||TGTGTG|TGTGTG||1|39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-14022_115-14017del|||||||rs3138701||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||TGTGTG|TGTGTG||1|39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-8571_115-8566del|||||||rs3138701||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||TGTGTG|TGTGTG||1|39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-8571_115-8566del|||||||rs3138701||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||TGTGTG|TGTGTG||1|39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-10910_115-10905del|||||||rs3138701||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||TGTGTG|TGTGTG||1|39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-8571_115-8566del|||||||rs3138701||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||TGTGTG|TGTGTG||1|39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-8571_115-8566del|||||||rs3138701||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||TGTGTG|TGTGTG||1|39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-8571_115-8566del|||||||rs3138701||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||TGTGTG|TGTGTG||1|39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-8571_115-8566del|||||||rs3138701||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||TGTGTG|TGTGTG||1|39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-14022_115-14017del|||||||rs3138701||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||TGTGTG|TGTGTG||1|39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-8571_115-8566del|||||||rs3138701||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||TGTGTG|TGTGTG||1|39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-478_115-473del|||||||rs3138701||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||TGTGTG|TGTGTG||1|39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-8571_115-8566del|||||||rs3138701||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||TGTGTG|TGTGTG||1|39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-8571_115-8566del|||||||rs3138701||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||TGTGTG|TGTGTG||1|39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-14022_115-14017del|||||||rs3138701||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||TGTGTG|TGTGTG||1|39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-8571_115-8566del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-478_-116-473del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-8571_115-8566del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-10910_115-10905del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-478_-116-473del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-8571_115-8566del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-8571_115-8566del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-8571_115-8566del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-8571_115-8566del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-8571_115-8566del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-14022_115-14017del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-14022_115-14017del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-8571_-526-8566del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-8571_115-8566del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-8571_-142-8566del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-8571_115-8566del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||TGTGTG|TGTGTG|OK||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-8571_115-8566del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-10910_115-10905del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-8571_115-8566del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-14022_115-14017del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-14022_115-14017del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-8571_115-8566del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-8571_115-8566del|||||||rs3138701||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-14022_481-14017del|||||||rs3138701||1||EntrezGene|HGNC:7773|||||||||RefSeq||TGTGTG|TGTGTG|||39|chr22:g.29628180_29628185del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs3138701|483|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||TGTGTG|TGTGTG||||chr22:g.29628180_29628185del|||||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs3138701|483|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||TGTGTG|TGTGTG||||chr22:g.29628180_29628185del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16002;gnomADv4_1_AC_joint_XX=8180;gnomADv4_1_AC_joint_XY=7822;gnomADv4_1_AF_grpmax_joint=0.159952;gnomADv4_1_AF_joint=0.114565;gnomADv4_1_AF_joint_XX=0.112852;gnomADv4_1_AF_joint_XY=0.116413;gnomADv4_1_AN_grpmax_joint=4170;gnomADv4_1_AN_joint=139676;gnomADv4_1_AN_joint_XX=72484;gnomADv4_1_AN_joint_XY=67192;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=932;gnomADv4_1_nhomalt_joint_XX=476;gnomADv4_1_nhomalt_joint_XY=456;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29628274 chr22_29628274_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.254;CADD_Rawscore=-0.364292;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-13928T>C|||||||rs2530661||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-8477T>C|||||||rs2530661||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-13928T>C|||||||rs2530661||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-8477T>C|||||||rs2530661||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-8477T>C|||||||rs2530661||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-10816T>C|||||||rs2530661||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-8477T>C|||||||rs2530661||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-8477T>C|||||||rs2530661||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-8477T>C|||||||rs2530661||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-8477T>C|||||||rs2530661||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29628274T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-13928T>C|||||||rs2530661||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29628274T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-8477T>C|||||||rs2530661||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29628274T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-384T>C|||||||rs2530661||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-8477T>C|||||||rs2530661||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29628274T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-8477T>C|||||||rs2530661||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-13928T>C|||||||rs2530661||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-8477T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-384T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-8477T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-10816T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-384T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-8477T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-8477T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-8477T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-8477T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-8477T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-13928T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-13928T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-8477T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-8477T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-8477T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-8477T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-8477T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-10816T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-8477T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-13928T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-13928T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-8477T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-8477T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-13928T>C|||||||rs2530661||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs2530661|355|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs2530661|355|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29628274T>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|23|-11|23|-19;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71662;gnomADv4_1_AC_joint_XX=37142;gnomADv4_1_AC_joint_XY=34520;gnomADv4_1_AF_grpmax_joint=0.75204;gnomADv4_1_AF_joint=0.472424;gnomADv4_1_AF_joint_XX=0.478708;gnomADv4_1_AF_joint_XY=0.465844;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=151690;gnomADv4_1_AN_joint_XX=77588;gnomADv4_1_AN_joint_XY=74102;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17426;gnomADv4_1_nhomalt_joint_XX=9108;gnomADv4_1_nhomalt_joint_XY=8318;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29628627 chr22_29628627_CT_C;chr22_29628627_C_CT CT C 17 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=17;CADDIndel_PHREDscore=0.142;CADDIndel_Rawscore=-0.517371;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-13552del|||||||rs5844863||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1|22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-8101del|||||||rs5844863||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1|22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-13552del|||||||rs5844863||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1|22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-8101del|||||||rs5844863||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1|22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-8101del|||||||rs5844863||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1|22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-10440del|||||||rs5844863||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1|22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-8101del|||||||rs5844863||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-8101del|||||||rs5844863||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1|22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-8101del|||||||rs5844863||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-8101del|||||||rs5844863||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1|22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-13552del|||||||rs5844863||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1|22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-8101del|||||||rs5844863||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-8del|||||||rs5844863||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1|22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-8101del|||||||rs5844863||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-8101del|||||||rs5844863||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1|22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-13552del|||||||rs5844863||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1|22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-8101del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-8del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-8101del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-10440del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-8del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-8101del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-8101del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-8101del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-8101del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-8101del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-13552del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-13552del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-8101del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-8101del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-8101del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-8101del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-8101del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-10440del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-8101del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-13552del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-13552del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-8101del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-8101del|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-13552del|||||||rs5844863||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T|||22|chr22:g.29628650del|uncertain_significance||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs5844863|1|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29628650del|uncertain_significance||1||||||||||,-|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs5844863|1|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29628650del|uncertain_significance||1||||||||||;ClinVar_CLNDN=Neurofibromatosis&_type_2;ClinVar_CLNHGVS=NC_000022.11:g.29628650del;ClinVar_CLNSIG=Uncertain_significance;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=1050057;SpliceAI=C|NF2|0.02|0.00|0.00|0.00|31|50|25|27;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44613;gnomADv4_1_AC_joint_XX=24091;gnomADv4_1_AC_joint_XY=20522;gnomADv4_1_AF_grpmax_joint=0.728395;gnomADv4_1_AF_joint=0.644045;gnomADv4_1_AF_joint_XX=0.645387;gnomADv4_1_AF_joint_XY=0.642477;gnomADv4_1_AN_grpmax_joint=162;gnomADv4_1_AN_joint=69270;gnomADv4_1_AN_joint_XX=37328;gnomADv4_1_AN_joint_XY=31942;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=13425;gnomADv4_1_nhomalt_joint_XX=7211;gnomADv4_1_nhomalt_joint_XY=6214;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29628627 chr22_29628627_CT_C;chr22_29628627_C_CT C CT 17 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=15;CADDIndel_PHREDscore=0.167;CADDIndel_Rawscore=-0.475017;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-13552dup|||||||rs5844863||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-8101dup|||||||rs5844863||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-13552dup|||||||rs5844863||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-8101dup|||||||rs5844863||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-8101dup|||||||rs5844863||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-10440dup|||||||rs5844863||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-8101dup|||||||rs5844863||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-8101dup|||||||rs5844863||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-8101dup|||||||rs5844863||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-8101dup|||||||rs5844863||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-13552dup|||||||rs5844863||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-8101dup|||||||rs5844863||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||1/16|ENST00000672805.1:c.115-8dup|||||||rs5844863||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-8101dup|||||||rs5844863||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-8101dup|||||||rs5844863||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-13552dup|||||||rs5844863||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-8101dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||1/16|NM_001407053.1:c.-116-8dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-8101dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-10440dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||1/17|NM_001407056.1:c.-116-8dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-8101dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-8101dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-8101dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-8101dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-8101dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-13552dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-13552dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-8101dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-8101dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-8101dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-8101dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-8101dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-10440dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-8101dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-13552dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-13552dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-8101dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-8101dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-13552dup|||||||rs5844863||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||23|chr22:g.29628650dup|uncertain_significance||1||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs5844863|1|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq|||||||chr22:g.29628650dup|uncertain_significance||1||||||||||,T|upstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs5844863|1|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq|||||||chr22:g.29628650dup|uncertain_significance||1||||||||||;SpliceAI=CT|NF2|0.00|0.00|0.00|0.00|19|31|-12|27;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2369;gnomADv4_1_AC_joint_XX=1269;gnomADv4_1_AC_joint_XY=1100;gnomADv4_1_AF_grpmax_joint=0.0820052;gnomADv4_1_AF_joint=0.0342836;gnomADv4_1_AF_joint_XX=0.034058;gnomADv4_1_AF_joint_XY=0.0345477;gnomADv4_1_AN_grpmax_joint=19828;gnomADv4_1_AN_joint=69100;gnomADv4_1_AN_joint_XX=37260;gnomADv4_1_AN_joint_XY=31840;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=73;gnomADv4_1_nhomalt_joint_XX=34;gnomADv4_1_nhomalt_joint_XY=39;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29630290 chr22_29630290_A_G A G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.074;CADD_Rawscore=-0.69459;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-11912A>G|||||||rs17460259||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-6461A>G|||||||rs17460259||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-11912A>G|||||||rs17460259||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-6461A>G|||||||rs17460259||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-6461A>G|||||||rs17460259||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-8800A>G|||||||rs17460259||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-6461A>G|||||||rs17460259||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-6461A>G|||||||rs17460259||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-6461A>G|||||||rs17460259||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-6461A>G|||||||rs17460259||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29630290A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-11912A>G|||||||rs17460259||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29630290A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-6461A>G|||||||rs17460259||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29630290A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||2/16|ENST00000672805.1:c.230+1517A>G|||||||rs17460259||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-6461A>G|||||||rs17460259||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29630290A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-6461A>G|||||||rs17460259||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-11912A>G|||||||rs17460259||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-6461A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||2/16|NM_001407053.1:c.-1+1517A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-6461A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-8800A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||2/17|NM_001407056.1:c.-1+1517A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-6461A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-6461A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-6461A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-6461A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-6461A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-11912A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-11912A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-6461A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-6461A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-6461A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-6461A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-6461A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-8800A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-6461A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-11912A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-11912A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-6461A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-6461A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-11912A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||1/15|XM_017028809.3:c.-1+1517A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||1/16|XM_047441386.1:c.-1+1517A>G|||||||rs17460259||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29630290A>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.03|0.00|-38|26|-1|18;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14349;gnomADv4_1_AC_joint_XX=7143;gnomADv4_1_AC_joint_XY=7206;gnomADv4_1_AF_grpmax_joint=0.153878;gnomADv4_1_AF_joint=0.0942414;gnomADv4_1_AF_joint_XX=0.0918005;gnomADv4_1_AF_joint_XY=0.0967924;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152258;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=868;gnomADv4_1_nhomalt_joint_XX=432;gnomADv4_1_nhomalt_joint_XY=436;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29636246 chr22_29636246_A_G A G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.66;CADD_Rawscore=-0.123859;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-5956A>G|||||||rs3940296||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-505A>G|||||||rs3940296||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-5956A>G|||||||rs3940296||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-505A>G|||||||rs3940296||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-505A>G|||||||rs3940296||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-2844A>G|||||||rs3940296||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-505A>G|||||||rs3940296||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-505A>G|||||||rs3940296||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-505A>G|||||||rs3940296||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-505A>G|||||||rs3940296||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29636246A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-5956A>G|||||||rs3940296||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29636246A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-505A>G|||||||rs3940296||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29636246A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||2/16|ENST00000672805.1:c.231-505A>G|||||||rs3940296||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-505A>G|||||||rs3940296||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29636246A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-505A>G|||||||rs3940296||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-5956A>G|||||||rs3940296||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||2/16|NM_001407053.1:c.1-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-2844A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||2/17|NM_001407056.1:c.1-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-5956A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-5956A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-2844A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-5956A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-5956A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-5956A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||1/15|XM_017028809.3:c.1-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||1/16|XM_047441386.1:c.1-505A>G|||||||rs3940296||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29636246A>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-48|9|-1|4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35819;gnomADv4_1_AC_joint_XX=18774;gnomADv4_1_AC_joint_XY=17045;gnomADv4_1_AF_grpmax_joint=0.285628;gnomADv4_1_AF_joint=0.235658;gnomADv4_1_AF_joint_XX=0.241615;gnomADv4_1_AF_joint_XY=0.229426;gnomADv4_1_AN_grpmax_joint=67952;gnomADv4_1_AN_joint=151996;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4363;gnomADv4_1_nhomalt_joint_XX=2305;gnomADv4_1_nhomalt_joint_XY=2058;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29636356 chr22_29636356_A_T A T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.052;CADD_Rawscore=-0.787915;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-5846A>T|||||||rs552778345||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-395A>T|||||||rs552778345||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-5846A>T|||||||rs552778345||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-395A>T|||||||rs552778345||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-395A>T|||||||rs552778345||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-2734A>T|||||||rs552778345||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-395A>T|||||||rs552778345||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-395A>T|||||||rs552778345||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-395A>T|||||||rs552778345||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-395A>T|||||||rs552778345||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29636356A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-5846A>T|||||||rs552778345||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29636356A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-395A>T|||||||rs552778345||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29636356A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||2/16|ENST00000672805.1:c.231-395A>T|||||||rs552778345||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-395A>T|||||||rs552778345||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29636356A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-395A>T|||||||rs552778345||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-5846A>T|||||||rs552778345||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||2/16|NM_001407053.1:c.1-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-2734A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||2/17|NM_001407056.1:c.1-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-5846A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-5846A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-2734A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-5846A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-5846A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-5846A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||1/15|XM_017028809.3:c.1-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||1/16|XM_047441386.1:c.1-395A>T|||||||rs552778345||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29636356A>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|29|-38|-16|-11;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=245;gnomADv4_1_AC_joint_XX=110;gnomADv4_1_AC_joint_XY=135;gnomADv4_1_AF_grpmax_joint=0.00680272;gnomADv4_1_AF_joint=0.00162435;gnomADv4_1_AF_joint_XX=0.00142576;gnomADv4_1_AF_joint_XY=0.0018323;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=150830;gnomADv4_1_AN_joint_XX=77152;gnomADv4_1_AN_joint_XY=73678;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29636495 chr22_29636495_A_C A C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=16.68;CADD_Rawscore=1.98518;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-5707A>C|||||||rs2531848||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||1/15|ENST00000338641.10:c.115-256A>C|||||||rs2531848||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-5707A>C|||||||rs2531848||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||1/14|ENST00000361166.10:c.115-256A>C|||||||rs2531848||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||1/15|ENST00000361452.8:c.115-256A>C|||||||rs2531848||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-2595A>C|||||||rs2531848||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||1/16|ENST00000397789.3:c.115-256A>C|||||||rs2531848||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||1/16|ENST00000403435.5:c.115-256A>C|||||||rs2531848||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||1/15|ENST00000403999.7:c.115-256A>C|||||||rs2531848||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||1/4|ENST00000413209.6:c.115-256A>C|||||||rs2531848||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-5707A>C|||||||rs2531848||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||1/17|ENST00000672461.1:c.115-256A>C|||||||rs2531848||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||2/16|ENST00000672805.1:c.231-256A>C|||||||rs2531848||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||1/16|ENST00000672896.1:c.115-256A>C|||||||rs2531848||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||1/16|ENST00000673312.2:c.115-256A>C|||||||rs2531848||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-5707A>C|||||||rs2531848||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||1/15|NM_000268.4:c.115-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||2/16|NM_001407053.1:c.1-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||1/14|NM_001407054.1:c.115-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-2595A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||2/17|NM_001407056.1:c.1-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||1/14|NM_001407057.1:c.115-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||1/15|NM_001407058.1:c.115-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||1/15|NM_001407059.1:c.115-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||1/14|NM_001407060.1:c.115-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||1/13|NM_001407062.1:c.115-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-5707A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-5707A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||1/17|NM_001407065.1:c.-526-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||1/16|NM_001407066.1:c.115-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||1/16|NM_001407067.1:c.-142-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||1/16|NM_016418.5:c.115-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||1/15|NM_181825.3:c.115-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-2595A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||1/15|NM_181829.3:c.115-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-5707A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-5707A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||1/16|NM_181832.3:c.115-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||1/4|NM_181833.3:c.115-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-5707A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||1/15|XM_017028809.3:c.1-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||1/16|XM_047441386.1:c.1-256A>C|||||||rs2531848||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29636495A>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29636495A>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=668833;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-8|29|11|1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22589;gnomADv4_1_AC_joint_XX=11505;gnomADv4_1_AC_joint_XY=11084;gnomADv4_1_AF_grpmax_joint=0.566239;gnomADv4_1_AF_joint=0.14845;gnomADv4_1_AF_joint_XX=0.147898;gnomADv4_1_AF_joint_XY=0.149027;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=152166;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2381;gnomADv4_1_nhomalt_joint_XX=1206;gnomADv4_1_nhomalt_joint_XY=1175;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29637047 chr22_29637047_T_A T A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.003;CADD_Rawscore=-1.66284;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-5155T>A|||||||rs2530662||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||2/15|ENST00000338641.10:c.240+171T>A|||||||rs2530662||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-5155T>A|||||||rs2530662||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||2/14|ENST00000361166.10:c.240+171T>A|||||||rs2530662||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||2/15|ENST00000361452.8:c.240+171T>A|||||||rs2530662||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-2043T>A|||||||rs2530662||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||2/16|ENST00000397789.3:c.240+171T>A|||||||rs2530662||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||2/16|ENST00000403435.5:c.240+171T>A|||||||rs2530662||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||2/15|ENST00000403999.7:c.240+171T>A|||||||rs2530662||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||2/4|ENST00000413209.6:c.240+171T>A|||||||rs2530662||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-5155T>A|||||||rs2530662||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||2/17|ENST00000672461.1:c.240+171T>A|||||||rs2530662||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||3/16|ENST00000672805.1:c.*122+171T>A|||||||rs2530662||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||2/16|ENST00000672896.1:c.240+171T>A|||||||rs2530662||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||2/16|ENST00000673312.2:c.240+171T>A|||||||rs2530662||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-5155T>A|||||||rs2530662||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||2/15|NM_000268.4:c.240+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||3/16|NM_001407053.1:c.126+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||2/14|NM_001407054.1:c.240+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-2043T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||3/17|NM_001407056.1:c.126+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||2/14|NM_001407057.1:c.240+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||2/15|NM_001407058.1:c.240+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||2/15|NM_001407059.1:c.240+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||2/14|NM_001407060.1:c.240+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||2/13|NM_001407062.1:c.240+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-5155T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-5155T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||2/17|NM_001407065.1:c.-401+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||2/16|NM_001407066.1:c.240+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||2/16|NM_001407067.1:c.9+146T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||2/16|NM_016418.5:c.240+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||2/15|NM_181825.3:c.240+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-2043T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||2/15|NM_181829.3:c.240+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-5155T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-5155T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||2/16|NM_181832.3:c.240+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||2/4|NM_181833.3:c.240+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-5155T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||2/15|XM_017028809.3:c.126+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||2/16|XM_047441386.1:c.126+171T>A|||||||rs2530662||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29637047T>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29637047T>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=1238631;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|-40|11|-46|11;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=604889;gnomADv4_1_AC_joint_XX=297557;gnomADv4_1_AC_joint_XY=307332;gnomADv4_1_AF_grpmax_joint=0.80765;gnomADv4_1_AF_joint=0.646133;gnomADv4_1_AF_joint_XX=0.654561;gnomADv4_1_AF_joint_XY=0.638177;gnomADv4_1_AN_grpmax_joint=38326;gnomADv4_1_AN_joint=936168;gnomADv4_1_AN_joint_XX=454590;gnomADv4_1_AN_joint_XY=481578;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=199000;gnomADv4_1_nhomalt_joint_XX=98918;gnomADv4_1_nhomalt_joint_XY=100082;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29637690 chr22_29637690_AT_A AT A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=0.19;CADDIndel_Rawscore=-0.440438;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-4498del|||||||rs35261503||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1|13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||2/15|ENST00000338641.10:c.240+828del|||||||rs35261503||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1|13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-4498del|||||||rs35261503||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1|13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||2/14|ENST00000361166.10:c.240+828del|||||||rs35261503||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1|13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||2/15|ENST00000361452.8:c.240+828del|||||||rs35261503||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1|13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||1/15|ENST00000361676.8:c.115-1386del|||||||rs35261503||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1|13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||2/16|ENST00000397789.3:c.240+828del|||||||rs35261503||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||2/16|ENST00000403435.5:c.240+828del|||||||rs35261503||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1|13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||2/15|ENST00000403999.7:c.240+828del|||||||rs35261503||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||2/4|ENST00000413209.6:c.240+828del|||||||rs35261503||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1|13|chr22:g.29637704del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-4498del|||||||rs35261503||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1|13|chr22:g.29637704del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||2/17|ENST00000672461.1:c.240+828del|||||||rs35261503||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|13|chr22:g.29637704del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||3/16|ENST00000672805.1:c.*122+828del|||||||rs35261503||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1|13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||2/16|ENST00000672896.1:c.240+828del|||||||rs35261503||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|13|chr22:g.29637704del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||2/16|ENST00000673312.2:c.240+828del|||||||rs35261503||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1|13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-4498del|||||||rs35261503||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1|13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||2/15|NM_000268.4:c.240+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||3/16|NM_001407053.1:c.126+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||2/14|NM_001407054.1:c.240+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||1/14|NM_001407055.1:c.115-1386del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||3/17|NM_001407056.1:c.126+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||2/14|NM_001407057.1:c.240+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||2/15|NM_001407058.1:c.240+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||2/15|NM_001407059.1:c.240+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||2/14|NM_001407060.1:c.240+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||2/13|NM_001407062.1:c.240+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-4498del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-4498del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||2/17|NM_001407065.1:c.-401+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||2/16|NM_001407066.1:c.240+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||2/16|NM_001407067.1:c.9+803del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||2/16|NM_016418.5:c.240+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||2/15|NM_181825.3:c.240+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||1/15|NM_181828.3:c.115-1386del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||2/15|NM_181829.3:c.240+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-4498del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-4498del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||2/16|NM_181832.3:c.240+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||2/4|NM_181833.3:c.240+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-4498del|||||||rs35261503||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||2/15|XM_017028809.3:c.126+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||2/16|XM_047441386.1:c.126+828del|||||||rs35261503||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T|||13|chr22:g.29637704del|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|20|-6|20|-1;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62139;gnomADv4_1_AC_joint_XX=32337;gnomADv4_1_AC_joint_XY=29802;gnomADv4_1_AF_grpmax_joint=0.739653;gnomADv4_1_AF_joint=0.424273;gnomADv4_1_AF_joint_XX=0.429032;gnomADv4_1_AF_joint_XY=0.419227;gnomADv4_1_AN_grpmax_joint=5074;gnomADv4_1_AN_joint=146460;gnomADv4_1_AN_joint_XX=75372;gnomADv4_1_AN_joint_XY=71088;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13068;gnomADv4_1_nhomalt_joint_XX=6899;gnomADv4_1_nhomalt_joint_XY=6169;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29640194 chr22_29640194_TA_T TA T 28 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=28;CADDIndel_PHREDscore=0.227;CADDIndel_Rawscore=-0.393592;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-1983del|||||||rs11379333||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1|24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||3/15|ENST00000338641.10:c.363+1007del|||||||rs11379333||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1|24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-1983del|||||||rs11379333||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1|24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||3/14|ENST00000361166.10:c.363+1007del|||||||rs11379333||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1|24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||2/15|ENST00000361452.8:c.241-1983del|||||||rs11379333||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1|24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||2/15|ENST00000361676.8:c.237+1007del|||||||rs11379333||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1|24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||3/16|ENST00000397789.3:c.363+1007del|||||||rs11379333||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1|24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||3/16|ENST00000403435.5:c.363+1007del|||||||rs11379333||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1|24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||3/15|ENST00000403999.7:c.363+1007del|||||||rs11379333||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1|24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||3/4|ENST00000413209.6:c.363+1007del|||||||rs11379333||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1|24|chr22:g.29640219del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-1983del|||||||rs11379333||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1|24|chr22:g.29640219del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||3/17|ENST00000672461.1:c.363+1007del|||||||rs11379333||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1|24|chr22:g.29640219del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||4/16|ENST00000672805.1:c.*245+1007del|||||||rs11379333||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1|24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||3/16|ENST00000672896.1:c.363+1007del|||||||rs11379333||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1|24|chr22:g.29640219del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||3/16|ENST00000673312.2:c.363+1007del|||||||rs11379333||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1|24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-1983del|||||||rs11379333||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1|24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||3/15|NM_000268.4:c.363+1007del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||4/16|NM_001407053.1:c.249+1007del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||2/14|NM_001407054.1:c.241-1983del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||2/14|NM_001407055.1:c.237+1007del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||4/17|NM_001407056.1:c.249+1007del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||3/14|NM_001407057.1:c.363+1007del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||2/15|NM_001407058.1:c.241-1983del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||3/15|NM_001407059.1:c.363+1007del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||3/14|NM_001407060.1:c.363+1007del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||2/13|NM_001407062.1:c.241-1983del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-1983del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-1983del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||3/17|NM_001407065.1:c.-278+1007del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||3/16|NM_001407066.1:c.363+1007del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||3/16|NM_001407067.1:c.132+1007del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||3/16|NM_016418.5:c.363+1007del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||3/15|NM_181825.3:c.363+1007del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||2/15|NM_181828.3:c.237+1007del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||2/15|NM_181829.3:c.241-1983del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-1983del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-1983del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||3/16|NM_181832.3:c.363+1007del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||3/4|NM_181833.3:c.363+1007del|||||||rs11379333||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-1983del|||||||rs11379333||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||3/15|XM_017028809.3:c.249+1007del|||||||rs11379333||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||3/16|XM_047441386.1:c.249+1007del|||||||rs11379333||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A|||24|chr22:g.29640219del|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|-15|29|-15|1;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34385;gnomADv4_1_AC_joint_XX=19303;gnomADv4_1_AC_joint_XY=15082;gnomADv4_1_AF_grpmax_joint=0.657174;gnomADv4_1_AF_joint=0.371649;gnomADv4_1_AF_joint_XX=0.380145;gnomADv4_1_AF_joint_XY=0.361315;gnomADv4_1_AN_grpmax_joint=2774;gnomADv4_1_AN_joint=92520;gnomADv4_1_AN_joint_XX=50778;gnomADv4_1_AN_joint_XY=41742;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5956;gnomADv4_1_nhomalt_joint_XX=3394;gnomADv4_1_nhomalt_joint_XY=2562;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29640280 chr22_29640280_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=4.954;CADD_Rawscore=0.451515;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-1922G>A|||||||rs9614024||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||3/15|ENST00000338641.10:c.363+1068G>A|||||||rs9614024||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-1922G>A|||||||rs9614024||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||3/14|ENST00000361166.10:c.363+1068G>A|||||||rs9614024||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||2/15|ENST00000361452.8:c.241-1922G>A|||||||rs9614024||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||2/15|ENST00000361676.8:c.237+1068G>A|||||||rs9614024||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||3/16|ENST00000397789.3:c.363+1068G>A|||||||rs9614024||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||3/16|ENST00000403435.5:c.363+1068G>A|||||||rs9614024||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||3/15|ENST00000403999.7:c.363+1068G>A|||||||rs9614024||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||3/4|ENST00000413209.6:c.363+1068G>A|||||||rs9614024||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29640280G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-1922G>A|||||||rs9614024||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29640280G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||3/17|ENST00000672461.1:c.363+1068G>A|||||||rs9614024||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29640280G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||4/16|ENST00000672805.1:c.*245+1068G>A|||||||rs9614024||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||3/16|ENST00000672896.1:c.363+1068G>A|||||||rs9614024||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29640280G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||3/16|ENST00000673312.2:c.363+1068G>A|||||||rs9614024||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-1922G>A|||||||rs9614024||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||3/15|NM_000268.4:c.363+1068G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||4/16|NM_001407053.1:c.249+1068G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||2/14|NM_001407054.1:c.241-1922G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||2/14|NM_001407055.1:c.237+1068G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||4/17|NM_001407056.1:c.249+1068G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||3/14|NM_001407057.1:c.363+1068G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||2/15|NM_001407058.1:c.241-1922G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||3/15|NM_001407059.1:c.363+1068G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||3/14|NM_001407060.1:c.363+1068G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||2/13|NM_001407062.1:c.241-1922G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-1922G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-1922G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||3/17|NM_001407065.1:c.-278+1068G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||3/16|NM_001407066.1:c.363+1068G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||3/16|NM_001407067.1:c.132+1068G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||3/16|NM_016418.5:c.363+1068G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||3/15|NM_181825.3:c.363+1068G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||2/15|NM_181828.3:c.237+1068G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||2/15|NM_181829.3:c.241-1922G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-1922G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-1922G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||3/16|NM_181832.3:c.363+1068G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||3/4|NM_181833.3:c.363+1068G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-1922G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||3/15|XM_017028809.3:c.249+1068G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||3/16|XM_047441386.1:c.249+1068G>A|||||||rs9614024||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29640280G>A|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|9|-5|-15|-33;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17390;gnomADv4_1_AC_joint_XX=9430;gnomADv4_1_AC_joint_XY=7960;gnomADv4_1_AF_grpmax_joint=0.183555;gnomADv4_1_AF_joint=0.11585;gnomADv4_1_AF_joint_XX=0.122337;gnomADv4_1_AF_joint_XY=0.109002;gnomADv4_1_AN_grpmax_joint=67800;gnomADv4_1_AN_joint=150108;gnomADv4_1_AN_joint_XX=77082;gnomADv4_1_AN_joint_XY=73026;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1330;gnomADv4_1_nhomalt_joint_XX=777;gnomADv4_1_nhomalt_joint_XY=553;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29640768 chr22_29640768_CGT_C CGT C 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=0;AC_XY=4;AF=1.0;AF_XX=.;AF_XY=1.0;AN=4;AN_XX=0;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.249;CADDIndel_Rawscore=-0.370137;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-1412_115-1411del|||||||rs10555211||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||GT|GT||1|21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||3/15|ENST00000338641.10:c.364-1412_364-1411del|||||||rs10555211||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||GT|GT||1|21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-1412_115-1411del|||||||rs10555211||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||GT|GT||1|21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||3/14|ENST00000361166.10:c.364-1412_364-1411del|||||||rs10555211||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||GT|GT||1|21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||2/15|ENST00000361452.8:c.241-1412_241-1411del|||||||rs10555211||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||GT|GT||1|21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||2/15|ENST00000361676.8:c.238-1412_238-1411del|||||||rs10555211||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||GT|GT||1|21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||3/16|ENST00000397789.3:c.364-1412_364-1411del|||||||rs10555211||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||GT|GT||1|21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||3/16|ENST00000403435.5:c.364-1412_364-1411del|||||||rs10555211||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||GT|GT||1|21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||3/15|ENST00000403999.7:c.364-1412_364-1411del|||||||rs10555211||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||GT|GT||1|21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||3/4|ENST00000413209.6:c.364-1412_364-1411del|||||||rs10555211||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||GT|GT||1|21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-1412_115-1411del|||||||rs10555211||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||GT|GT||1|21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||3/17|ENST00000672461.1:c.364-1412_364-1411del|||||||rs10555211||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||GT|GT||1|21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||4/16|ENST00000672805.1:c.*246-1412_*246-1411del|||||||rs10555211||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||GT|GT||1|21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||3/16|ENST00000672896.1:c.364-1412_364-1411del|||||||rs10555211||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||GT|GT||1|21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||3/16|ENST00000673312.2:c.364-1412_364-1411del|||||||rs10555211||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||GT|GT||1|21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-1412_115-1411del|||||||rs10555211||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||GT|GT||1|21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||3/15|NM_000268.4:c.364-1412_364-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||4/16|NM_001407053.1:c.250-1412_250-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||2/14|NM_001407054.1:c.241-1412_241-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||2/14|NM_001407055.1:c.238-1412_238-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||4/17|NM_001407056.1:c.250-1412_250-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||3/14|NM_001407057.1:c.364-1412_364-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||2/15|NM_001407058.1:c.241-1412_241-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||3/15|NM_001407059.1:c.364-1412_364-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||3/14|NM_001407060.1:c.364-1412_364-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||2/13|NM_001407062.1:c.241-1412_241-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-1412_115-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-1412_115-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||3/17|NM_001407065.1:c.-277-1412_-277-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||3/16|NM_001407066.1:c.364-1412_364-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||3/16|NM_001407067.1:c.133-1412_133-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||3/16|NM_016418.5:c.364-1412_364-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||GT|GT|OK||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||3/15|NM_181825.3:c.364-1412_364-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||2/15|NM_181828.3:c.238-1412_238-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||2/15|NM_181829.3:c.241-1412_241-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-1412_115-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-1412_115-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||3/16|NM_181832.3:c.364-1412_364-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||3/4|NM_181833.3:c.364-1412_364-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-1412_481-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||3/15|XM_017028809.3:c.250-1412_250-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||3/16|XM_047441386.1:c.250-1412_250-1411del|||||||rs10555211||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||GT|GT|||21|chr22:g.29640790_29640791del|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-10|45|37|-11;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=130468;gnomADv4_1_AC_joint_XX=66746;gnomADv4_1_AC_joint_XY=63722;gnomADv4_1_AF_grpmax_joint=0.981336;gnomADv4_1_AF_joint=0.870541;gnomADv4_1_AF_joint_XX=0.86927;gnomADv4_1_AF_joint_XY=0.871877;gnomADv4_1_AN_grpmax_joint=5090;gnomADv4_1_AN_joint=149870;gnomADv4_1_AN_joint_XX=76784;gnomADv4_1_AN_joint_XY=73086;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=56786;gnomADv4_1_nhomalt_joint_XX=29024;gnomADv4_1_nhomalt_joint_XY=27762;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chr22 29641120 chr22_29641120_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.546;CADD_Rawscore=-0.171083;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-1082T>C|||||||rs2530663||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||3/15|ENST00000338641.10:c.364-1082T>C|||||||rs2530663||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-1082T>C|||||||rs2530663||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||3/14|ENST00000361166.10:c.364-1082T>C|||||||rs2530663||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||2/15|ENST00000361452.8:c.241-1082T>C|||||||rs2530663||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||2/15|ENST00000361676.8:c.238-1082T>C|||||||rs2530663||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||3/16|ENST00000397789.3:c.364-1082T>C|||||||rs2530663||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||3/16|ENST00000403435.5:c.364-1082T>C|||||||rs2530663||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||3/15|ENST00000403999.7:c.364-1082T>C|||||||rs2530663||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||3/4|ENST00000413209.6:c.364-1082T>C|||||||rs2530663||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29641120T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-1082T>C|||||||rs2530663||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29641120T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||3/17|ENST00000672461.1:c.364-1082T>C|||||||rs2530663||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29641120T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||4/16|ENST00000672805.1:c.*246-1082T>C|||||||rs2530663||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||3/16|ENST00000672896.1:c.364-1082T>C|||||||rs2530663||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29641120T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||3/16|ENST00000673312.2:c.364-1082T>C|||||||rs2530663||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-1082T>C|||||||rs2530663||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||3/15|NM_000268.4:c.364-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||4/16|NM_001407053.1:c.250-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||2/14|NM_001407054.1:c.241-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||2/14|NM_001407055.1:c.238-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||4/17|NM_001407056.1:c.250-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||3/14|NM_001407057.1:c.364-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||2/15|NM_001407058.1:c.241-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||3/15|NM_001407059.1:c.364-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||3/14|NM_001407060.1:c.364-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||2/13|NM_001407062.1:c.241-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||3/17|NM_001407065.1:c.-277-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||3/16|NM_001407066.1:c.364-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||3/16|NM_001407067.1:c.133-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||3/16|NM_016418.5:c.364-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||3/15|NM_181825.3:c.364-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||2/15|NM_181828.3:c.238-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||2/15|NM_181829.3:c.241-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||3/16|NM_181832.3:c.364-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||3/4|NM_181833.3:c.364-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||3/15|XM_017028809.3:c.250-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||3/16|XM_047441386.1:c.250-1082T>C|||||||rs2530663||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29641120T>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|38|49|23|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=132728;gnomADv4_1_AC_joint_XX=67894;gnomADv4_1_AC_joint_XY=64834;gnomADv4_1_AF_grpmax_joint=0.946911;gnomADv4_1_AF_joint=0.872006;gnomADv4_1_AF_joint_XX=0.872831;gnomADv4_1_AF_joint_XY=0.871144;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152210;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=57950;gnomADv4_1_nhomalt_joint_XX=29680;gnomADv4_1_nhomalt_joint_XY=28270;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29641911 chr22_29641911_C_G C G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=4.195;CADD_Rawscore=0.38252;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-291C>G|||||||rs2531849||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||3/15|ENST00000338641.10:c.364-291C>G|||||||rs2531849||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-291C>G|||||||rs2531849||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||3/14|ENST00000361166.10:c.364-291C>G|||||||rs2531849||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||2/15|ENST00000361452.8:c.241-291C>G|||||||rs2531849||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||2/15|ENST00000361676.8:c.238-291C>G|||||||rs2531849||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||3/16|ENST00000397789.3:c.364-291C>G|||||||rs2531849||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||3/16|ENST00000403435.5:c.364-291C>G|||||||rs2531849||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||3/15|ENST00000403999.7:c.364-291C>G|||||||rs2531849||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||3/4|ENST00000413209.6:c.364-291C>G|||||||rs2531849||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-291C>G|||||||rs2531849||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||3/17|ENST00000672461.1:c.364-291C>G|||||||rs2531849||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||4/16|ENST00000672805.1:c.*246-291C>G|||||||rs2531849||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||3/16|ENST00000672896.1:c.364-291C>G|||||||rs2531849||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||3/16|ENST00000673312.2:c.364-291C>G|||||||rs2531849||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-291C>G|||||||rs2531849||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||3/15|NM_000268.4:c.364-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||4/16|NM_001407053.1:c.250-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||2/14|NM_001407054.1:c.241-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||2/14|NM_001407055.1:c.238-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||4/17|NM_001407056.1:c.250-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||3/14|NM_001407057.1:c.364-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||2/15|NM_001407058.1:c.241-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||3/15|NM_001407059.1:c.364-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||3/14|NM_001407060.1:c.364-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||2/13|NM_001407062.1:c.241-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||3/17|NM_001407065.1:c.-277-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||3/16|NM_001407066.1:c.364-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||3/16|NM_001407067.1:c.133-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||3/16|NM_016418.5:c.364-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||3/15|NM_181825.3:c.364-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||2/15|NM_181828.3:c.238-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||2/15|NM_181829.3:c.241-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||3/16|NM_181832.3:c.364-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||3/4|NM_181833.3:c.364-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||3/15|XM_017028809.3:c.250-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||3/16|XM_047441386.1:c.250-291C>G|||||||rs2531849||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29641911C>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29641911C>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=668837;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|29|11|18|11;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22586;gnomADv4_1_AC_joint_XX=11497;gnomADv4_1_AC_joint_XY=11089;gnomADv4_1_AF_grpmax_joint=0.565621;gnomADv4_1_AF_joint=0.148418;gnomADv4_1_AF_joint_XX=0.147807;gnomADv4_1_AF_joint_XY=0.149058;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152178;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2384;gnomADv4_1_nhomalt_joint_XX=1203;gnomADv4_1_nhomalt_joint_XY=1181;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29642163 chr22_29642163_A_C A C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.036;CADD_Rawscore=-0.892726;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||1/14|ENST00000334961.11:c.115-39A>C|||||||rs2530664||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||3/15|ENST00000338641.10:c.364-39A>C|||||||rs2530664||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||1/14|ENST00000353887.8:c.115-39A>C|||||||rs2530664||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||3/14|ENST00000361166.10:c.364-39A>C|||||||rs2530664||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||2/15|ENST00000361452.8:c.241-39A>C|||||||rs2530664||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||2/15|ENST00000361676.8:c.238-39A>C|||||||rs2530664||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||3/16|ENST00000397789.3:c.364-39A>C|||||||rs2530664||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||3/16|ENST00000403435.5:c.364-39A>C|||||||rs2530664||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||3/15|ENST00000403999.7:c.364-39A>C|||||||rs2530664||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||3/4|ENST00000413209.6:c.364-39A>C|||||||rs2530664||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||1/7|ENST00000432151.5:c.115-39A>C|||||||rs2530664||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||3/17|ENST00000672461.1:c.364-39A>C|||||||rs2530664||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||4/16|ENST00000672805.1:c.*246-39A>C|||||||rs2530664||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||3/16|ENST00000672896.1:c.364-39A>C|||||||rs2530664||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||3/16|ENST00000673312.2:c.364-39A>C|||||||rs2530664||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||1/14|ENST00000713935.1:c.115-39A>C|||||||rs2530664||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||3/15|NM_000268.4:c.364-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||4/16|NM_001407053.1:c.250-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||2/14|NM_001407054.1:c.241-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||2/14|NM_001407055.1:c.238-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||4/17|NM_001407056.1:c.250-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||3/14|NM_001407057.1:c.364-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||2/15|NM_001407058.1:c.241-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||3/15|NM_001407059.1:c.364-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||3/14|NM_001407060.1:c.364-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||2/13|NM_001407062.1:c.241-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||1/14|NM_001407063.1:c.115-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||1/12|NM_001407064.1:c.115-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||3/17|NM_001407065.1:c.-277-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||3/16|NM_001407066.1:c.364-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||3/16|NM_001407067.1:c.133-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||3/16|NM_016418.5:c.364-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||3/15|NM_181825.3:c.364-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||2/15|NM_181828.3:c.238-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||2/15|NM_181829.3:c.241-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||1/14|NM_181830.3:c.115-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||1/14|NM_181831.3:c.115-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||3/16|NM_181832.3:c.364-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||3/4|NM_181833.3:c.364-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||1/7|NR_176267.1:n.481-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||3/15|XM_017028809.3:c.250-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||3/16|XM_047441386.1:c.250-39A>C|||||||rs2530664||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29642163A>C|benign||1||||||||||;ClinVar_CLNDN=not_provided|not_specified|Neurofibromatosis&_type_2;ClinVar_CLNHGVS=NC_000022.11:g.29642163A>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=262993;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|45|39|-42|38;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=272220;gnomADv4_1_AC_joint_XX=137404;gnomADv4_1_AC_joint_XY=134816;gnomADv4_1_AF_grpmax_joint=0.554895;gnomADv4_1_AF_joint=0.178044;gnomADv4_1_AF_joint_XX=0.179699;gnomADv4_1_AF_joint_XY=0.176387;gnomADv4_1_AN_grpmax_joint=44394;gnomADv4_1_AN_joint=1528952;gnomADv4_1_AN_joint_XX=764634;gnomADv4_1_AN_joint_XY=764318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=28938;gnomADv4_1_nhomalt_joint_XX=14791;gnomADv4_1_nhomalt_joint_XY=14147;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29642960 chr22_29642960_C_CT C CT 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.368;CADDIndel_Rawscore=-0.27003;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.198+689dup|||||||rs566160360||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.447+689dup|||||||rs566160360||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.198+689dup|||||||rs566160360||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.447+689dup|||||||rs566160360||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.324+689dup|||||||rs566160360||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.321+689dup|||||||rs566160360||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.447+689dup|||||||rs566160360||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.447+689dup|||||||rs566160360||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.447+689dup|||||||rs566160360||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+689dup|||||||rs566160360||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|14|chr22:g.29642974dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.198+689dup|||||||rs566160360||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|14|chr22:g.29642974dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.447+689dup|||||||rs566160360||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|14|chr22:g.29642974dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*329+689dup|||||||rs566160360||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.447+689dup|||||||rs566160360||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|14|chr22:g.29642974dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.447+689dup|||||||rs566160360||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.198+689dup|||||||rs566160360||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.447+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.333+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.324+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.321+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.333+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.447+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.324+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.447+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.447+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.324+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.198+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.198+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-194+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.447+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.216+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.447+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.447+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.321+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.324+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.198+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.198+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.447+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.564+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.333+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.333+689dup|||||||rs566160360||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||||||14|chr22:g.29642974dup|||||||||||||;SpliceAI=CT|NF2|0.00|0.00|0.00|0.00|20|-42|-42|-33;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20710;gnomADv4_1_AC_joint_XX=10603;gnomADv4_1_AC_joint_XY=10107;gnomADv4_1_AF_grpmax_joint=0.184261;gnomADv4_1_AF_joint=0.143108;gnomADv4_1_AF_joint_XX=0.142556;gnomADv4_1_AF_joint_XY=0.143692;gnomADv4_1_AN_grpmax_joint=39482;gnomADv4_1_AN_joint=144716;gnomADv4_1_AN_joint_XX=74378;gnomADv4_1_AN_joint_XY=70338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1496;gnomADv4_1_nhomalt_joint_XX=761;gnomADv4_1_nhomalt_joint_XY=735;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29643509 chr22_29643509_C_A C A 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=27;CADD_PHREDscore=2.792;CADD_Rawscore=0.254143;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.198+1224C>A|||||||rs201183286||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.447+1224C>A|||||||rs201183286||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.198+1224C>A|||||||rs201183286||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.447+1224C>A|||||||rs201183286||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.324+1224C>A|||||||rs201183286||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.321+1224C>A|||||||rs201183286||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.447+1224C>A|||||||rs201183286||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.447+1224C>A|||||||rs201183286||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.447+1224C>A|||||||rs201183286||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+1224C>A|||||||rs201183286||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29643509C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.198+1224C>A|||||||rs201183286||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29643509C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.447+1224C>A|||||||rs201183286||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29643509C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*329+1224C>A|||||||rs201183286||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.447+1224C>A|||||||rs201183286||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29643509C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.447+1224C>A|||||||rs201183286||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.198+1224C>A|||||||rs201183286||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.447+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.333+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.324+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.321+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.333+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.447+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.324+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.447+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.447+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.324+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.198+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.198+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-194+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.447+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.216+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.447+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.447+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.321+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.324+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.198+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.198+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.447+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.564+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.333+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.333+1224C>A|||||||rs201183286||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29643509C>A|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|23|7|-27|-47;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19915;gnomADv4_1_AC_joint_XX=10435;gnomADv4_1_AC_joint_XY=9480;gnomADv4_1_AF_grpmax_joint=0.199922;gnomADv4_1_AF_joint=0.130939;gnomADv4_1_AF_joint_XX=0.134205;gnomADv4_1_AF_joint_XY=0.127522;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1588;gnomADv4_1_nhomalt_joint_XX=860;gnomADv4_1_nhomalt_joint_XY=728;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29644124 chr22_29644124_T_C T C 48 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=5.614;CADD_Rawscore=0.514716;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.198+1839T>C|||||||rs7290811||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.447+1839T>C|||||||rs7290811||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.198+1839T>C|||||||rs7290811||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.447+1839T>C|||||||rs7290811||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.324+1839T>C|||||||rs7290811||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.321+1839T>C|||||||rs7290811||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.447+1839T>C|||||||rs7290811||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.447+1839T>C|||||||rs7290811||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.447+1839T>C|||||||rs7290811||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+1839T>C|||||||rs7290811||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29644124T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.198+1839T>C|||||||rs7290811||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29644124T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.447+1839T>C|||||||rs7290811||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29644124T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*329+1839T>C|||||||rs7290811||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.447+1839T>C|||||||rs7290811||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29644124T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.447+1839T>C|||||||rs7290811||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.198+1839T>C|||||||rs7290811||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.447+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.333+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.324+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.321+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.333+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.447+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.324+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.447+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.447+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.324+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.198+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.198+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-194+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.447+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.216+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.447+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.447+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.321+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.324+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.198+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.198+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.447+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.564+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.333+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.333+1839T>C|||||||rs7290811||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29644124T>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-41|10|-37|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96091;gnomADv4_1_AC_joint_XX=49690;gnomADv4_1_AC_joint_XY=46401;gnomADv4_1_AF_grpmax_joint=0.803142;gnomADv4_1_AF_joint=0.644655;gnomADv4_1_AF_joint_XX=0.65116;gnomADv4_1_AF_joint_XY=0.637832;gnomADv4_1_AN_grpmax_joint=4902;gnomADv4_1_AN_joint=149058;gnomADv4_1_AN_joint_XX=76310;gnomADv4_1_AN_joint_XY=72748;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=30877;gnomADv4_1_nhomalt_joint_XX=16099;gnomADv4_1_nhomalt_joint_XY=14778;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29644208 chr22_29644208_G_A G A 24 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=24;CADD_PHREDscore=4.642;CADD_Rawscore=0.422821;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.198+1923G>A|||||||rs7285342||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.447+1923G>A|||||||rs7285342||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.198+1923G>A|||||||rs7285342||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.447+1923G>A|||||||rs7285342||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.324+1923G>A|||||||rs7285342||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.321+1923G>A|||||||rs7285342||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.447+1923G>A|||||||rs7285342||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.447+1923G>A|||||||rs7285342||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.447+1923G>A|||||||rs7285342||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+1923G>A|||||||rs7285342||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29644208G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.198+1923G>A|||||||rs7285342||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29644208G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.447+1923G>A|||||||rs7285342||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29644208G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*329+1923G>A|||||||rs7285342||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.447+1923G>A|||||||rs7285342||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29644208G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.447+1923G>A|||||||rs7285342||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.198+1923G>A|||||||rs7285342||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.447+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.333+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.324+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.321+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.333+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.447+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.324+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.447+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.447+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.324+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.198+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.198+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-194+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.447+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.216+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.447+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.447+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.321+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.324+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.198+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.198+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.447+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.564+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.333+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.333+1923G>A|||||||rs7285342||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29644208G>A|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|-45|-10|-23|-38;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47669;gnomADv4_1_AC_joint_XX=24765;gnomADv4_1_AC_joint_XY=22904;gnomADv4_1_AF_grpmax_joint=0.422108;gnomADv4_1_AF_joint=0.327051;gnomADv4_1_AF_joint_XX=0.332639;gnomADv4_1_AF_joint_XY=0.321216;gnomADv4_1_AN_grpmax_joint=64358;gnomADv4_1_AN_joint=145754;gnomADv4_1_AN_joint_XX=74450;gnomADv4_1_AN_joint_XY=71304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6437;gnomADv4_1_nhomalt_joint_XX=3320;gnomADv4_1_nhomalt_joint_XY=3117;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29644885 chr22_29644885_T_C T C 44 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=4.212;CADD_Rawscore=0.384108;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.198+2600T>C|||||||rs2530666||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.447+2600T>C|||||||rs2530666||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.198+2600T>C|||||||rs2530666||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.447+2600T>C|||||||rs2530666||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.324+2600T>C|||||||rs2530666||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.321+2600T>C|||||||rs2530666||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.447+2600T>C|||||||rs2530666||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.447+2600T>C|||||||rs2530666||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.447+2600T>C|||||||rs2530666||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+2600T>C|||||||rs2530666||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29644885T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.198+2600T>C|||||||rs2530666||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29644885T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.447+2600T>C|||||||rs2530666||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29644885T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*329+2600T>C|||||||rs2530666||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.447+2600T>C|||||||rs2530666||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29644885T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.447+2600T>C|||||||rs2530666||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.198+2600T>C|||||||rs2530666||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.447+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.333+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.324+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.321+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.333+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.447+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.324+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.447+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.447+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.324+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.198+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.198+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-194+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.447+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.216+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.447+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.447+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.321+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.324+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.198+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.198+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.447+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.564+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.333+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.333+2600T>C|||||||rs2530666||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29644885T>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-13|-39|6|-40;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=116782;gnomADv4_1_AC_joint_XX=59973;gnomADv4_1_AC_joint_XY=56809;gnomADv4_1_AF_grpmax_joint=0.836735;gnomADv4_1_AF_joint=0.770269;gnomADv4_1_AF_joint_XX=0.773326;gnomADv4_1_AF_joint_XY=0.767067;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151612;gnomADv4_1_AN_joint_XX=77552;gnomADv4_1_AN_joint_XY=74060;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=45130;gnomADv4_1_nhomalt_joint_XX=23268;gnomADv4_1_nhomalt_joint_XY=21862;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29647035 chr22_29647035_C_CAA C CAA 42 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.75;AF_XX=.;AF_XY=0.75;AN=4;AN_XX=0;AN_XY=4;AQ=42;CADDIndel_PHREDscore=6.275;CADDIndel_Rawscore=0.581264;CSQ=AA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.198+4766_198+4767dup|||||||rs67597134||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.447+4766_447+4767dup|||||||rs67597134||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.198+4766_198+4767dup|||||||rs67597134||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.447+4766_447+4767dup|||||||rs67597134||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.324+4766_324+4767dup|||||||rs67597134||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.321+4766_321+4767dup|||||||rs67597134||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.447+4766_447+4767dup|||||||rs67597134||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.447+4766_447+4767dup|||||||rs67597134||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.447+4766_447+4767dup|||||||rs67597134||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+4766_447+4767dup|||||||rs67597134||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.198+4766_198+4767dup|||||||rs67597134||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.447+4766_447+4767dup|||||||rs67597134||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*329+4766_*329+4767dup|||||||rs67597134||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.447+4766_447+4767dup|||||||rs67597134||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.447+4766_447+4767dup|||||||rs67597134||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.198+4766_198+4767dup|||||||rs67597134||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.447+4766_447+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.333+4766_333+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.324+4766_324+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.321+4766_321+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.333+4766_333+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.447+4766_447+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.324+4766_324+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.447+4766_447+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.447+4766_447+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.324+4766_324+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.198+4766_198+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.198+4766_198+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-194+4766_-194+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.447+4766_447+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.216+4766_216+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.447+4766_447+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.447+4766_447+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.321+4766_321+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.324+4766_324+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.198+4766_198+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.198+4766_198+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.447+4766_447+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+4766_447+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.564+4766_564+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.333+4766_333+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||,AA|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.333+4766_333+4767dup|||||||rs67597134||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||||||17|chr22:g.29647051_29647052dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46004;gnomADv4_1_AC_joint_XX=24846;gnomADv4_1_AC_joint_XY=21158;gnomADv4_1_AF_grpmax_joint=0.487754;gnomADv4_1_AF_joint=0.394945;gnomADv4_1_AF_joint_XX=0.402769;gnomADv4_1_AF_joint_XY=0.386137;gnomADv4_1_AN_grpmax_joint=57242;gnomADv4_1_AN_joint=116482;gnomADv4_1_AN_joint_XX=61688;gnomADv4_1_AN_joint_XY=54794;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8617;gnomADv4_1_nhomalt_joint_XX=4795;gnomADv4_1_nhomalt_joint_XY=3822;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29647574 chr22_29647574_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.461;CADD_Rawscore=-0.213672;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.198+5289C>T|||||||rs2531850||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.447+5289C>T|||||||rs2531850||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.198+5289C>T|||||||rs2531850||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.447+5289C>T|||||||rs2531850||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.324+5289C>T|||||||rs2531850||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.321+5289C>T|||||||rs2531850||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.447+5289C>T|||||||rs2531850||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.447+5289C>T|||||||rs2531850||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.447+5289C>T|||||||rs2531850||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+5289C>T|||||||rs2531850||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29647574C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.198+5289C>T|||||||rs2531850||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29647574C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.447+5289C>T|||||||rs2531850||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29647574C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*329+5289C>T|||||||rs2531850||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.447+5289C>T|||||||rs2531850||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29647574C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.447+5289C>T|||||||rs2531850||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.198+5289C>T|||||||rs2531850||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.447+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.333+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.324+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.321+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.333+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.447+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.324+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.447+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.447+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.324+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.198+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.198+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-194+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.447+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.216+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.447+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.447+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.321+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.324+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.198+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.198+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.447+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.564+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.333+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.333+5289C>T|||||||rs2531850||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29647574C>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|-23|5|-23|8;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55275;gnomADv4_1_AC_joint_XX=28930;gnomADv4_1_AC_joint_XY=26345;gnomADv4_1_AF_grpmax_joint=0.469892;gnomADv4_1_AF_joint=0.363637;gnomADv4_1_AF_joint_XX=0.372253;gnomADv4_1_AF_joint_XY=0.354624;gnomADv4_1_AN_grpmax_joint=67956;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10971;gnomADv4_1_nhomalt_joint_XX=5876;gnomADv4_1_nhomalt_joint_XY=5095;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29648131 chr22_29648131_AAAAT_A;chr22_29648131_A_AAAAT AAAAT A 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=1.112;CADDIndel_Rawscore=0.009698;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.198+5878_198+5881del|||||||rs56407600||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||AAAT|AAAT||1|31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.447+5878_447+5881del|||||||rs56407600||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||AAAT|AAAT||1|31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.198+5878_198+5881del|||||||rs56407600||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||AAAT|AAAT||1|31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.447+5878_447+5881del|||||||rs56407600||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||AAAT|AAAT||1|31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.324+5878_324+5881del|||||||rs56407600||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||AAAT|AAAT||1|31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.321+5878_321+5881del|||||||rs56407600||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||AAAT|AAAT||1|31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.447+5878_447+5881del|||||||rs56407600||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||AAAT|AAAT||1|31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.447+5878_447+5881del|||||||rs56407600||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||AAAT|AAAT||1|31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.447+5878_447+5881del|||||||rs56407600||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||AAAT|AAAT||1|31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+5878_447+5881del|||||||rs56407600||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||AAAT|AAAT||1|31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.198+5878_198+5881del|||||||rs56407600||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||AAAT|AAAT||1|31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.447+5878_447+5881del|||||||rs56407600||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||AAAT|AAAT||1|31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*329+5878_*329+5881del|||||||rs56407600||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||AAAT|AAAT||1|31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.447+5878_447+5881del|||||||rs56407600||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||AAAT|AAAT||1|31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.447+5878_447+5881del|||||||rs56407600||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||AAAT|AAAT||1|31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.198+5878_198+5881del|||||||rs56407600||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||AAAT|AAAT||1|31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.447+5878_447+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.333+5878_333+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.324+5878_324+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.321+5878_321+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.333+5878_333+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.447+5878_447+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.324+5878_324+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.447+5878_447+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.447+5878_447+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.324+5878_324+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.198+5878_198+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.198+5878_198+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-194+5878_-194+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.447+5878_447+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.216+5878_216+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.447+5878_447+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||AAAT|AAAT|OK||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.447+5878_447+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.321+5878_321+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.324+5878_324+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.198+5878_198+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.198+5878_198+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.447+5878_447+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+5878_447+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.564+5878_564+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.333+5878_333+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.333+5878_333+5881del|||||||rs56407600||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||AAAT|AAAT|||31|chr22:g.29648163_29648166del|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|6|-16|6|-16;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56367;gnomADv4_1_AC_joint_XX=29676;gnomADv4_1_AC_joint_XY=26691;gnomADv4_1_AF_grpmax_joint=0.472085;gnomADv4_1_AF_joint=0.388272;gnomADv4_1_AF_joint_XX=0.396441;gnomADv4_1_AF_joint_XY=0.379576;gnomADv4_1_AN_grpmax_joint=66666;gnomADv4_1_AN_joint=145174;gnomADv4_1_AN_joint_XX=74856;gnomADv4_1_AN_joint_XY=70318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11316;gnomADv4_1_nhomalt_joint_XX=6087;gnomADv4_1_nhomalt_joint_XY=5229;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29648131 chr22_29648131_AAAAT_A;chr22_29648131_A_AAAAT A AAAAT 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=26;CADDIndel_PHREDscore=1.342;CADDIndel_Rawscore=0.058988;CSQ=AAAT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.198+5878_198+5881dup|||||||rs56407600||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.447+5878_447+5881dup|||||||rs56407600||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.198+5878_198+5881dup|||||||rs56407600||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.447+5878_447+5881dup|||||||rs56407600||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.324+5878_324+5881dup|||||||rs56407600||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.321+5878_321+5881dup|||||||rs56407600||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.447+5878_447+5881dup|||||||rs56407600||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.447+5878_447+5881dup|||||||rs56407600||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.447+5878_447+5881dup|||||||rs56407600||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+5878_447+5881dup|||||||rs56407600||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.198+5878_198+5881dup|||||||rs56407600||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.447+5878_447+5881dup|||||||rs56407600||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*329+5878_*329+5881dup|||||||rs56407600||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.447+5878_447+5881dup|||||||rs56407600||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.447+5878_447+5881dup|||||||rs56407600||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.198+5878_198+5881dup|||||||rs56407600||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.447+5878_447+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.333+5878_333+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.324+5878_324+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.321+5878_321+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.333+5878_333+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.447+5878_447+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.324+5878_324+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.447+5878_447+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.447+5878_447+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.324+5878_324+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.198+5878_198+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.198+5878_198+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-194+5878_-194+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.447+5878_447+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.216+5878_216+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.447+5878_447+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.447+5878_447+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.321+5878_321+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.324+5878_324+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.198+5878_198+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.198+5878_198+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.447+5878_447+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+5878_447+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.564+5878_564+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.333+5878_333+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||,AAAT|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.333+5878_333+5881dup|||||||rs56407600||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||||||35|chr22:g.29648163_29648166dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29829;gnomADv4_1_AC_joint_XX=15569;gnomADv4_1_AC_joint_XY=14260;gnomADv4_1_AF_grpmax_joint=0.289409;gnomADv4_1_AF_joint=0.205658;gnomADv4_1_AF_joint_XX=0.208119;gnomADv4_1_AF_joint_XY=0.203036;gnomADv4_1_AN_grpmax_joint=38938;gnomADv4_1_AN_joint=145042;gnomADv4_1_AN_joint_XX=74808;gnomADv4_1_AN_joint_XY=70234;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3362;gnomADv4_1_nhomalt_joint_XX=1779;gnomADv4_1_nhomalt_joint_XY=1583;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29648162 chr22_29648162_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=4.59;CADD_Rawscore=0.418066;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.198+5877A>G|||||||rs2530667||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.447+5877A>G|||||||rs2530667||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.198+5877A>G|||||||rs2530667||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.447+5877A>G|||||||rs2530667||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.324+5877A>G|||||||rs2530667||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.321+5877A>G|||||||rs2530667||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.447+5877A>G|||||||rs2530667||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.447+5877A>G|||||||rs2530667||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.447+5877A>G|||||||rs2530667||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+5877A>G|||||||rs2530667||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29648162A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.198+5877A>G|||||||rs2530667||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29648162A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.447+5877A>G|||||||rs2530667||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29648162A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*329+5877A>G|||||||rs2530667||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.447+5877A>G|||||||rs2530667||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29648162A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.447+5877A>G|||||||rs2530667||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.198+5877A>G|||||||rs2530667||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.447+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.333+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.324+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.321+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.333+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.447+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.324+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.447+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.447+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.324+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.198+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.198+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-194+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.447+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.216+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.447+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.447+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.321+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.324+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.198+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.198+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.447+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.564+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.333+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.333+5877A>G|||||||rs2530667||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29648162A>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-47|6|-47|-45;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54820;gnomADv4_1_AC_joint_XX=28740;gnomADv4_1_AC_joint_XY=26080;gnomADv4_1_AF_grpmax_joint=0.469726;gnomADv4_1_AF_joint=0.363566;gnomADv4_1_AF_joint_XX=0.372743;gnomADv4_1_AF_joint_XY=0.353963;gnomADv4_1_AN_grpmax_joint=67714;gnomADv4_1_AN_joint=150784;gnomADv4_1_AN_joint_XX=77104;gnomADv4_1_AN_joint_XY=73680;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10884;gnomADv4_1_nhomalt_joint_XX=5846;gnomADv4_1_nhomalt_joint_XY=5038;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29648239 chr22_29648239_A_G A G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.851;CADD_Rawscore=0.259991;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.198+5954A>G|||||||rs2530668||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.447+5954A>G|||||||rs2530668||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.198+5954A>G|||||||rs2530668||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.447+5954A>G|||||||rs2530668||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.324+5954A>G|||||||rs2530668||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.321+5954A>G|||||||rs2530668||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.447+5954A>G|||||||rs2530668||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.447+5954A>G|||||||rs2530668||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.447+5954A>G|||||||rs2530668||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+5954A>G|||||||rs2530668||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29648239A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.198+5954A>G|||||||rs2530668||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29648239A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.447+5954A>G|||||||rs2530668||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29648239A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*329+5954A>G|||||||rs2530668||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.447+5954A>G|||||||rs2530668||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29648239A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.447+5954A>G|||||||rs2530668||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.198+5954A>G|||||||rs2530668||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.447+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.333+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.324+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.321+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.333+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.447+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.324+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.447+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.447+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.324+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.198+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.198+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-194+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.447+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.216+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.447+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.447+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.321+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.324+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.198+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.198+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.447+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.564+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.333+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.333+5954A>G|||||||rs2530668||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29648239A>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|45|17|-13|15;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55235;gnomADv4_1_AC_joint_XX=28913;gnomADv4_1_AC_joint_XY=26322;gnomADv4_1_AF_grpmax_joint=0.469747;gnomADv4_1_AF_joint=0.363412;gnomADv4_1_AF_joint_XX=0.372101;gnomADv4_1_AF_joint_XY=0.354324;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10955;gnomADv4_1_nhomalt_joint_XX=5868;gnomADv4_1_nhomalt_joint_XY=5087;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29648680 chr22_29648680_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.263;CADD_Rawscore=-0.356289;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.199-5977A>G|||||||rs2530669||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.448-5977A>G|||||||rs2530669||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.199-5977A>G|||||||rs2530669||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.448-5977A>G|||||||rs2530669||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.325-5977A>G|||||||rs2530669||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.322-5977A>G|||||||rs2530669||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.448-5977A>G|||||||rs2530669||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.448-5977A>G|||||||rs2530669||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.448-5977A>G|||||||rs2530669||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+6395A>G|||||||rs2530669||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29648680A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.198+6395A>G|||||||rs2530669||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29648680A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.448-5977A>G|||||||rs2530669||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29648680A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*330-5977A>G|||||||rs2530669||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.448-5977A>G|||||||rs2530669||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29648680A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.448-5977A>G|||||||rs2530669||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.199-5977A>G|||||||rs2530669||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.448-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.334-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.325-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.322-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.334-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.448-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.325-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.448-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.448-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.325-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.199-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.199-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-193-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.448-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.217-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.448-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.448-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.322-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.325-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.199-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.199-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.448-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+6395A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.564+6395A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.334-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.334-5977A>G|||||||rs2530669||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29648680A>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-7|2|-8|-43;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55313;gnomADv4_1_AC_joint_XX=28949;gnomADv4_1_AC_joint_XY=26364;gnomADv4_1_AF_grpmax_joint=0.469997;gnomADv4_1_AF_joint=0.363595;gnomADv4_1_AF_joint_XX=0.372229;gnomADv4_1_AF_joint_XY=0.354565;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=152128;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10975;gnomADv4_1_nhomalt_joint_XX=5880;gnomADv4_1_nhomalt_joint_XY=5095;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29651743 chr22_29651743_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.913;CADD_Rawscore=-0.04143;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.199-2914T>C|||||||rs2245185||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.448-2914T>C|||||||rs2245185||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.199-2914T>C|||||||rs2245185||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.448-2914T>C|||||||rs2245185||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.325-2914T>C|||||||rs2245185||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.322-2914T>C|||||||rs2245185||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.448-2914T>C|||||||rs2245185||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.448-2914T>C|||||||rs2245185||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.448-2914T>C|||||||rs2245185||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+9458T>C|||||||rs2245185||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29651743T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.198+9458T>C|||||||rs2245185||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29651743T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.448-2914T>C|||||||rs2245185||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29651743T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*330-2914T>C|||||||rs2245185||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.448-2914T>C|||||||rs2245185||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29651743T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.448-2914T>C|||||||rs2245185||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.199-2914T>C|||||||rs2245185||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.448-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.334-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.325-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.322-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.334-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.448-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.325-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.448-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.448-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.325-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.199-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.199-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-193-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.448-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.217-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.448-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.448-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.322-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.325-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.199-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.199-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.448-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+9458T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.564+9458T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.334-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.334-2914T>C|||||||rs2245185||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29651743T>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-35|11|29|-7;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55294;gnomADv4_1_AC_joint_XX=28932;gnomADv4_1_AC_joint_XY=26362;gnomADv4_1_AF_grpmax_joint=0.469754;gnomADv4_1_AF_joint=0.363604;gnomADv4_1_AF_joint_XX=0.372164;gnomADv4_1_AF_joint_XY=0.354652;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10972;gnomADv4_1_nhomalt_joint_XX=5873;gnomADv4_1_nhomalt_joint_XY=5099;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29651902 chr22_29651902_C_G C G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.943;CADD_Rawscore=-0.03309;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.199-2755C>G|||||||rs2530670||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.448-2755C>G|||||||rs2530670||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.199-2755C>G|||||||rs2530670||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.448-2755C>G|||||||rs2530670||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.325-2755C>G|||||||rs2530670||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.322-2755C>G|||||||rs2530670||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.448-2755C>G|||||||rs2530670||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.448-2755C>G|||||||rs2530670||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.448-2755C>G|||||||rs2530670||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+9617C>G|||||||rs2530670||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29651902C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.199-9303C>G|||||||rs2530670||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29651902C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.448-2755C>G|||||||rs2530670||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29651902C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*330-2755C>G|||||||rs2530670||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.448-2755C>G|||||||rs2530670||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29651902C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.448-2755C>G|||||||rs2530670||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.199-2755C>G|||||||rs2530670||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.448-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.334-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.325-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.322-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.334-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.448-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.325-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.448-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.448-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.325-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.199-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.199-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-193-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.448-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.217-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.448-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.448-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.322-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.325-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.199-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.199-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.448-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+9617C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.565-9303C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.334-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.334-2755C>G|||||||rs2530670||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29651902C>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-41|16|42|-36;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55272;gnomADv4_1_AC_joint_XX=28926;gnomADv4_1_AC_joint_XY=26346;gnomADv4_1_AF_grpmax_joint=0.469813;gnomADv4_1_AF_joint=0.363512;gnomADv4_1_AF_joint_XX=0.372039;gnomADv4_1_AF_joint_XY=0.35459;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10962;gnomADv4_1_nhomalt_joint_XX=5871;gnomADv4_1_nhomalt_joint_XY=5091;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29652193 chr22_29652193_G_A G A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.844;CADD_Rawscore=0.142516;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.199-2464G>A|||||||rs2245194||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.448-2464G>A|||||||rs2245194||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.199-2464G>A|||||||rs2245194||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.448-2464G>A|||||||rs2245194||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.325-2464G>A|||||||rs2245194||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.322-2464G>A|||||||rs2245194||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.448-2464G>A|||||||rs2245194||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.448-2464G>A|||||||rs2245194||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.448-2464G>A|||||||rs2245194||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+9908G>A|||||||rs2245194||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29652193G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.199-9012G>A|||||||rs2245194||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29652193G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.448-2464G>A|||||||rs2245194||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29652193G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*330-2464G>A|||||||rs2245194||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.448-2464G>A|||||||rs2245194||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29652193G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.448-2464G>A|||||||rs2245194||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.199-2464G>A|||||||rs2245194||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.448-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.334-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.325-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.322-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.334-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.448-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.325-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.448-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.448-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.325-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.199-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.199-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-193-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.448-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.217-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.448-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.448-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.322-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.325-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.199-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.199-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.448-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+9908G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.565-9012G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.334-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.334-2464G>A|||||||rs2245194||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29652193G>A|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|2|1|-30|1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=102643;gnomADv4_1_AC_joint_XX=53085;gnomADv4_1_AC_joint_XY=49558;gnomADv4_1_AF_grpmax_joint=0.804718;gnomADv4_1_AF_joint=0.674981;gnomADv4_1_AF_joint_XX=0.68273;gnomADv4_1_AF_joint_XY=0.666873;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34823;gnomADv4_1_nhomalt_joint_XX=18180;gnomADv4_1_nhomalt_joint_XY=16643;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29652582 chr22_29652582_T_C T C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.087;CADD_Rawscore=-0.648596;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.199-2075T>C|||||||rs2079648||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.448-2075T>C|||||||rs2079648||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.199-2075T>C|||||||rs2079648||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.448-2075T>C|||||||rs2079648||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.325-2075T>C|||||||rs2079648||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.322-2075T>C|||||||rs2079648||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.448-2075T>C|||||||rs2079648||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.448-2075T>C|||||||rs2079648||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.448-2075T>C|||||||rs2079648||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+10297T>C|||||||rs2079648||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29652582T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.199-8623T>C|||||||rs2079648||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29652582T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.448-2075T>C|||||||rs2079648||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29652582T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*330-2075T>C|||||||rs2079648||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.448-2075T>C|||||||rs2079648||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29652582T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.448-2075T>C|||||||rs2079648||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.199-2075T>C|||||||rs2079648||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.448-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.334-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.325-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.322-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.334-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.448-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.325-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.448-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.448-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.325-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.199-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.199-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-193-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.448-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.217-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.448-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.448-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.322-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.325-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.199-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.199-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.448-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+10297T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.565-8623T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.334-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.334-2075T>C|||||||rs2079648||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29652582T>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-27|-44|-45|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=132126;gnomADv4_1_AC_joint_XX=67601;gnomADv4_1_AC_joint_XY=64525;gnomADv4_1_AF_grpmax_joint=0.939142;gnomADv4_1_AF_joint=0.867845;gnomADv4_1_AF_joint_XX=0.86855;gnomADv4_1_AF_joint_XY=0.867108;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152246;gnomADv4_1_AN_joint_XX=77832;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=57436;gnomADv4_1_nhomalt_joint_XX=29426;gnomADv4_1_nhomalt_joint_XY=28010;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29653443 chr22_29653443_CA_C CA C 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.461;CADDIndel_Rawscore=-0.213693;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.199-1194del|||||||rs57099430||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1|19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.448-1194del|||||||rs57099430||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1|19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.199-1194del|||||||rs57099430||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1|19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.448-1194del|||||||rs57099430||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1|19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.325-1194del|||||||rs57099430||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1|19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.322-1194del|||||||rs57099430||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1|19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.448-1194del|||||||rs57099430||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1|19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.448-1194del|||||||rs57099430||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1|19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.448-1194del|||||||rs57099430||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1|19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+11178del|||||||rs57099430||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1|19|chr22:g.29653463del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.199-7742del|||||||rs57099430||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1|19|chr22:g.29653463del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.448-1194del|||||||rs57099430||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1|19|chr22:g.29653463del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*330-1194del|||||||rs57099430||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1|19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.448-1194del|||||||rs57099430||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1|19|chr22:g.29653463del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.448-1194del|||||||rs57099430||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1|19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.199-1194del|||||||rs57099430||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1|19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.448-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.334-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.325-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.322-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.334-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.448-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.325-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.448-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.448-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.325-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.199-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.199-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-193-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.448-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.217-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.448-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.448-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.322-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.325-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.199-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.199-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.448-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+11178del|||||||rs57099430||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.565-7742del|||||||rs57099430||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.334-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.334-1194del|||||||rs57099430||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A|||19|chr22:g.29653463del|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-23|-22|-23|1;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38842;gnomADv4_1_AC_joint_XX=20736;gnomADv4_1_AC_joint_XY=18106;gnomADv4_1_AF_grpmax_joint=0.622664;gnomADv4_1_AF_joint=0.410766;gnomADv4_1_AF_joint_XX=0.413744;gnomADv4_1_AF_joint_XY=0.407407;gnomADv4_1_AN_grpmax_joint=3424;gnomADv4_1_AN_joint=94560;gnomADv4_1_AN_joint_XX=50118;gnomADv4_1_AN_joint_XY=44442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4299;gnomADv4_1_nhomalt_joint_XX=2254;gnomADv4_1_nhomalt_joint_XY=2045;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29653595 chr22_29653595_A_G A G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.091;CADD_Rawscore=-0.638294;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.199-1062A>G|||||||rs2527337||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.448-1062A>G|||||||rs2527337||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.199-1062A>G|||||||rs2527337||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.448-1062A>G|||||||rs2527337||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.325-1062A>G|||||||rs2527337||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.322-1062A>G|||||||rs2527337||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.448-1062A>G|||||||rs2527337||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.448-1062A>G|||||||rs2527337||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.448-1062A>G|||||||rs2527337||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+11310A>G|||||||rs2527337||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29653595A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.199-7610A>G|||||||rs2527337||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29653595A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.448-1062A>G|||||||rs2527337||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29653595A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*330-1062A>G|||||||rs2527337||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.448-1062A>G|||||||rs2527337||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29653595A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.448-1062A>G|||||||rs2527337||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.199-1062A>G|||||||rs2527337||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.448-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.334-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.325-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.322-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.334-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.448-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.325-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.448-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.448-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.325-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.199-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.199-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-193-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.448-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.217-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.448-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.448-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.322-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.325-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.199-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.199-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.448-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+11310A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.565-7610A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.334-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.334-1062A>G|||||||rs2527337||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29653595A>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-17|13|-1|-17;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55296;gnomADv4_1_AC_joint_XX=28954;gnomADv4_1_AC_joint_XY=26342;gnomADv4_1_AF_grpmax_joint=0.469808;gnomADv4_1_AF_joint=0.363598;gnomADv4_1_AF_joint_XX=0.372466;gnomADv4_1_AF_joint_XY=0.354326;gnomADv4_1_AN_grpmax_joint=67964;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10973;gnomADv4_1_nhomalt_joint_XX=5883;gnomADv4_1_nhomalt_joint_XY=5090;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29653654 chr22_29653654_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.141;CADD_Rawscore=-0.51986;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.199-1003C>T|||||||rs6006219||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.448-1003C>T|||||||rs6006219||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.199-1003C>T|||||||rs6006219||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.448-1003C>T|||||||rs6006219||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.325-1003C>T|||||||rs6006219||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.322-1003C>T|||||||rs6006219||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.448-1003C>T|||||||rs6006219||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.448-1003C>T|||||||rs6006219||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.448-1003C>T|||||||rs6006219||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+11369C>T|||||||rs6006219||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29653654C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.199-7551C>T|||||||rs6006219||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29653654C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.448-1003C>T|||||||rs6006219||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29653654C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*330-1003C>T|||||||rs6006219||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.448-1003C>T|||||||rs6006219||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29653654C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.448-1003C>T|||||||rs6006219||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.199-1003C>T|||||||rs6006219||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.448-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.334-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.325-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.322-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.334-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.448-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.325-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.448-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.448-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.325-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.199-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.199-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-193-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.448-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.217-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.448-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.448-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.322-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.325-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.199-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.199-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.448-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+11369C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.565-7551C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.334-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.334-1003C>T|||||||rs6006219||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29653654C>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|24|-8|-2|-8;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20101;gnomADv4_1_AC_joint_XX=10221;gnomADv4_1_AC_joint_XY=9880;gnomADv4_1_AF_grpmax_joint=0.163129;gnomADv4_1_AF_joint=0.13231;gnomADv4_1_AF_joint_XX=0.131534;gnomADv4_1_AF_joint_XY=0.133121;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=151924;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1426;gnomADv4_1_nhomalt_joint_XX=738;gnomADv4_1_nhomalt_joint_XY=688;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29653981 chr22_29653981_G_GGAAA G GGAAA 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=7.722;CADDIndel_Rawscore=0.737771;CSQ=GAAA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.199-674_199-671dup|||||||rs3831693||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.448-674_448-671dup|||||||rs3831693||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.199-674_199-671dup|||||||rs3831693||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.448-674_448-671dup|||||||rs3831693||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.325-674_325-671dup|||||||rs3831693||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.322-674_322-671dup|||||||rs3831693||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.448-674_448-671dup|||||||rs3831693||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.448-674_448-671dup|||||||rs3831693||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.448-674_448-671dup|||||||rs3831693||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+11698_447+11701dup|||||||rs3831693||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.199-7222_199-7219dup|||||||rs3831693||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.448-674_448-671dup|||||||rs3831693||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*330-674_*330-671dup|||||||rs3831693||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.448-674_448-671dup|||||||rs3831693||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.448-674_448-671dup|||||||rs3831693||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.199-674_199-671dup|||||||rs3831693||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.448-674_448-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.334-674_334-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.325-674_325-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.322-674_322-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.334-674_334-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.448-674_448-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.325-674_325-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.448-674_448-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.448-674_448-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.325-674_325-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.199-674_199-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.199-674_199-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-193-674_-193-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.448-674_448-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.217-674_217-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.448-674_448-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.448-674_448-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.322-674_322-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.325-674_325-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.199-674_199-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.199-674_199-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.448-674_448-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+11698_447+11701dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.565-7222_565-7219dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.334-674_334-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||,GAAA|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.334-674_334-671dup|||||||rs3831693||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||||||5|chr22:g.29653983_29653986dup|||||||||||||;TYPE=INDEL;VEP_Allele=GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA,GAAA;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54899;gnomADv4_1_AC_joint_XX=28758;gnomADv4_1_AC_joint_XY=26141;gnomADv4_1_AF_grpmax_joint=0.468609;gnomADv4_1_AF_joint=0.362427;gnomADv4_1_AF_joint_XX=0.371263;gnomADv4_1_AF_joint_XY=0.35318;gnomADv4_1_AN_grpmax_joint=67758;gnomADv4_1_AN_joint=151476;gnomADv4_1_AN_joint_XX=77460;gnomADv4_1_AN_joint_XY=74016;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10813;gnomADv4_1_nhomalt_joint_XX=5807;gnomADv4_1_nhomalt_joint_XY=5006;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29654303 chr22_29654303_T_C T C 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=6.935;CADD_Rawscore=0.6511;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||2/14|ENST00000334961.11:c.199-354T>C|||||||rs2245415||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||4/15|ENST00000338641.10:c.448-354T>C|||||||rs2245415||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||2/14|ENST00000353887.8:c.199-354T>C|||||||rs2245415||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||4/14|ENST00000361166.10:c.448-354T>C|||||||rs2245415||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||3/15|ENST00000361452.8:c.325-354T>C|||||||rs2245415||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||3/15|ENST00000361676.8:c.322-354T>C|||||||rs2245415||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||4/16|ENST00000397789.3:c.448-354T>C|||||||rs2245415||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||4/16|ENST00000403435.5:c.448-354T>C|||||||rs2245415||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||4/15|ENST00000403999.7:c.448-354T>C|||||||rs2245415||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+12018T>C|||||||rs2245415||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29654303T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.199-6902T>C|||||||rs2245415||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29654303T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||4/17|ENST00000672461.1:c.448-354T>C|||||||rs2245415||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29654303T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||5/16|ENST00000672805.1:c.*330-354T>C|||||||rs2245415||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||4/16|ENST00000672896.1:c.448-354T>C|||||||rs2245415||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29654303T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||4/16|ENST00000673312.2:c.448-354T>C|||||||rs2245415||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||2/14|ENST00000713935.1:c.199-354T>C|||||||rs2245415||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||4/15|NM_000268.4:c.448-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||5/16|NM_001407053.1:c.334-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||3/14|NM_001407054.1:c.325-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||3/14|NM_001407055.1:c.322-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||5/17|NM_001407056.1:c.334-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||4/14|NM_001407057.1:c.448-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||3/15|NM_001407058.1:c.325-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||4/15|NM_001407059.1:c.448-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||4/14|NM_001407060.1:c.448-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||3/13|NM_001407062.1:c.325-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||2/14|NM_001407063.1:c.199-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||2/12|NM_001407064.1:c.199-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||4/17|NM_001407065.1:c.-193-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||4/16|NM_001407066.1:c.448-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||4/16|NM_001407067.1:c.217-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||4/16|NM_016418.5:c.448-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||4/15|NM_181825.3:c.448-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||3/15|NM_181828.3:c.322-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||3/15|NM_181829.3:c.325-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||2/14|NM_181830.3:c.199-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||2/14|NM_181831.3:c.199-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||4/16|NM_181832.3:c.448-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+12018T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.565-6902T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||4/15|XM_017028809.3:c.334-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||4/16|XM_047441386.1:c.334-354T>C|||||||rs2245415||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29654303T>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-6|-42|-31|-23;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55291;gnomADv4_1_AC_joint_XX=28937;gnomADv4_1_AC_joint_XY=26354;gnomADv4_1_AF_grpmax_joint=0.469836;gnomADv4_1_AF_joint=0.363494;gnomADv4_1_AF_joint_XX=0.372209;gnomADv4_1_AF_joint_XY=0.354382;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10969;gnomADv4_1_nhomalt_joint_XX=5876;gnomADv4_1_nhomalt_joint_XY=5093;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29655444 chr22_29655444_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.831;CADD_Rawscore=-0.0653;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||3/14|ENST00000334961.11:c.268-150C>T|||||||rs6006220||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||5/15|ENST00000338641.10:c.517-150C>T|||||||rs6006220||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||3/14|ENST00000353887.8:c.268-150C>T|||||||rs6006220||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||5/14|ENST00000361166.10:c.517-150C>T|||||||rs6006220||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||4/15|ENST00000361452.8:c.394-150C>T|||||||rs6006220||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||4/15|ENST00000361676.8:c.391-150C>T|||||||rs6006220||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||5/16|ENST00000397789.3:c.517-150C>T|||||||rs6006220||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||5/16|ENST00000403435.5:c.517-150C>T|||||||rs6006220||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||5/15|ENST00000403999.7:c.517-150C>T|||||||rs6006220||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+13159C>T|||||||rs6006220||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.199-5761C>T|||||||rs6006220||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||5/17|ENST00000672461.1:c.517-150C>T|||||||rs6006220||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||6/16|ENST00000672805.1:c.*399-150C>T|||||||rs6006220||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||5/16|ENST00000672896.1:c.517-150C>T|||||||rs6006220||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||6/16|ENST00000673312.2:c.*11-150C>T|||||||rs6006220||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||3/14|ENST00000713935.1:c.268-150C>T|||||||rs6006220||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||5/15|NM_000268.4:c.517-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||6/16|NM_001407053.1:c.403-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||4/14|NM_001407054.1:c.394-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||4/14|NM_001407055.1:c.391-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||6/17|NM_001407056.1:c.403-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||5/14|NM_001407057.1:c.517-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||4/15|NM_001407058.1:c.394-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||5/15|NM_001407059.1:c.517-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||5/14|NM_001407060.1:c.517-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||4/13|NM_001407062.1:c.394-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||3/14|NM_001407063.1:c.268-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||3/12|NM_001407064.1:c.268-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||6/17|NM_001407065.1:c.-18-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||5/16|NM_001407066.1:c.517-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||5/16|NM_001407067.1:c.286-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||5/16|NM_016418.5:c.517-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||5/15|NM_181825.3:c.517-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||4/15|NM_181828.3:c.391-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||4/15|NM_181829.3:c.394-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||3/14|NM_181830.3:c.268-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||3/14|NM_181831.3:c.268-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||5/16|NM_181832.3:c.517-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+13159C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.565-5761C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||5/15|XM_017028809.3:c.403-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||5/16|XM_047441386.1:c.403-150C>T|||||||rs6006220||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29655444C>T|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29655444C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=1250048;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|50|-18|-15|13;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=158840;gnomADv4_1_AC_joint_XX=74910;gnomADv4_1_AC_joint_XY=83930;gnomADv4_1_AF_grpmax_joint=0.436197;gnomADv4_1_AF_joint=0.232582;gnomADv4_1_AF_joint_XX=0.231024;gnomADv4_1_AF_joint_XY=0.23399;gnomADv4_1_AN_grpmax_joint=37036;gnomADv4_1_AN_joint=682942;gnomADv4_1_AN_joint_XX=324252;gnomADv4_1_AN_joint_XY=358690;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19873;gnomADv4_1_nhomalt_joint_XX=9341;gnomADv4_1_nhomalt_joint_XY=10532;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29656105 chr22_29656105_G_A G A 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.648;CADD_Rawscore=-0.128283;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||4/14|ENST00000334961.11:c.350+429G>A|||||||rs2857637||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||6/15|ENST00000338641.10:c.599+429G>A|||||||rs2857637||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||4/14|ENST00000353887.8:c.350+429G>A|||||||rs2857637||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||6/14|ENST00000361166.10:c.599+429G>A|||||||rs2857637||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||5/15|ENST00000361452.8:c.476+429G>A|||||||rs2857637||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||5/15|ENST00000361676.8:c.473+429G>A|||||||rs2857637||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||6/16|ENST00000397789.3:c.599+429G>A|||||||rs2857637||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||6/16|ENST00000403435.5:c.599+429G>A|||||||rs2857637||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||6/15|ENST00000403999.7:c.599+429G>A|||||||rs2857637||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+13820G>A|||||||rs2857637||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29656105G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.199-5100G>A|||||||rs2857637||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29656105G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||6/17|ENST00000672461.1:c.599+429G>A|||||||rs2857637||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29656105G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||7/16|ENST00000672805.1:c.*481+429G>A|||||||rs2857637||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||6/16|ENST00000672896.1:c.599+429G>A|||||||rs2857637||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29656105G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||7/16|ENST00000673312.2:c.*93+429G>A|||||||rs2857637||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||4/14|ENST00000713935.1:c.350+429G>A|||||||rs2857637||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||6/15|NM_000268.4:c.599+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||7/16|NM_001407053.1:c.485+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||5/14|NM_001407054.1:c.476+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||5/14|NM_001407055.1:c.473+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||7/17|NM_001407056.1:c.485+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||6/14|NM_001407057.1:c.599+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||5/15|NM_001407058.1:c.476+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||6/15|NM_001407059.1:c.599+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||6/14|NM_001407060.1:c.599+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||5/13|NM_001407062.1:c.476+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||4/14|NM_001407063.1:c.350+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||4/12|NM_001407064.1:c.350+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||7/17|NM_001407065.1:c.65+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||6/16|NM_001407066.1:c.599+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||6/16|NM_001407067.1:c.368+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||6/16|NM_016418.5:c.599+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||6/15|NM_181825.3:c.599+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||5/15|NM_181828.3:c.473+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||5/15|NM_181829.3:c.476+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||4/14|NM_181830.3:c.350+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||4/14|NM_181831.3:c.350+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||6/16|NM_181832.3:c.599+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+13820G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.565-5100G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||6/15|XM_017028809.3:c.485+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||6/16|XM_047441386.1:c.485+429G>A|||||||rs2857637||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29656105G>A|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|19|1|-24|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55400;gnomADv4_1_AC_joint_XX=29016;gnomADv4_1_AC_joint_XY=26384;gnomADv4_1_AF_grpmax_joint=0.470321;gnomADv4_1_AF_joint=0.366029;gnomADv4_1_AF_joint_XX=0.374758;gnomADv4_1_AF_joint_XY=0.356888;gnomADv4_1_AN_grpmax_joint=67792;gnomADv4_1_AN_joint=151354;gnomADv4_1_AN_joint_XX=77426;gnomADv4_1_AN_joint_XY=73928;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10981;gnomADv4_1_nhomalt_joint_XX=5891;gnomADv4_1_nhomalt_joint_XY=5090;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29656407 chr22_29656407_CT_C CT C 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=11;CADDIndel_PHREDscore=0.25;CADDIndel_Rawscore=-0.36874;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||4/14|ENST00000334961.11:c.350+754del|||||||rs59440855||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1|22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||6/15|ENST00000338641.10:c.599+754del|||||||rs59440855||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1|22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||4/14|ENST00000353887.8:c.350+754del|||||||rs59440855||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1|22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||6/14|ENST00000361166.10:c.599+754del|||||||rs59440855||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1|22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||5/15|ENST00000361452.8:c.476+754del|||||||rs59440855||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1|22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||5/15|ENST00000361676.8:c.473+754del|||||||rs59440855||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1|22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||6/16|ENST00000397789.3:c.599+754del|||||||rs59440855||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||6/16|ENST00000403435.5:c.599+754del|||||||rs59440855||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1|22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||6/15|ENST00000403999.7:c.599+754del|||||||rs59440855||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+14145del|||||||rs59440855||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1|22|chr22:g.29656430del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.199-4775del|||||||rs59440855||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1|22|chr22:g.29656430del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||6/17|ENST00000672461.1:c.599+754del|||||||rs59440855||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|22|chr22:g.29656430del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||7/16|ENST00000672805.1:c.*481+754del|||||||rs59440855||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1|22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||6/16|ENST00000672896.1:c.599+754del|||||||rs59440855||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|22|chr22:g.29656430del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||7/16|ENST00000673312.2:c.*93+754del|||||||rs59440855||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1|22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||4/14|ENST00000713935.1:c.350+754del|||||||rs59440855||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1|22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||6/15|NM_000268.4:c.599+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||7/16|NM_001407053.1:c.485+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||5/14|NM_001407054.1:c.476+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||5/14|NM_001407055.1:c.473+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||7/17|NM_001407056.1:c.485+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||6/14|NM_001407057.1:c.599+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||5/15|NM_001407058.1:c.476+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||6/15|NM_001407059.1:c.599+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||6/14|NM_001407060.1:c.599+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||5/13|NM_001407062.1:c.476+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||4/14|NM_001407063.1:c.350+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||4/12|NM_001407064.1:c.350+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||7/17|NM_001407065.1:c.65+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||6/16|NM_001407066.1:c.599+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||6/16|NM_001407067.1:c.368+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||6/16|NM_016418.5:c.599+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||6/15|NM_181825.3:c.599+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||5/15|NM_181828.3:c.473+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||5/15|NM_181829.3:c.476+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||4/14|NM_181830.3:c.350+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||4/14|NM_181831.3:c.350+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||6/16|NM_181832.3:c.599+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+14145del|||||||rs59440855||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.565-4775del|||||||rs59440855||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||6/15|XM_017028809.3:c.485+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||6/16|XM_047441386.1:c.485+754del|||||||rs59440855||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T|||22|chr22:g.29656430del|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|27|43|27|-26;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23401;gnomADv4_1_AC_joint_XX=13044;gnomADv4_1_AC_joint_XY=10357;gnomADv4_1_AF_grpmax_joint=0.448007;gnomADv4_1_AF_joint=0.284836;gnomADv4_1_AF_joint_XX=0.291005;gnomADv4_1_AF_joint_XY=0.27743;gnomADv4_1_AN_grpmax_joint=2308;gnomADv4_1_AN_joint=82156;gnomADv4_1_AN_joint_XX=44824;gnomADv4_1_AN_joint_XY=37332;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=664;gnomADv4_1_nhomalt_joint_XX=331;gnomADv4_1_nhomalt_joint_XY=333;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29657129 chr22_29657129_G_A G A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.01;CADD_Rawscore=-1.2546;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||4/14|ENST00000334961.11:c.351-1060G>A|||||||rs2857638||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||6/15|ENST00000338641.10:c.600-1060G>A|||||||rs2857638||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||4/14|ENST00000353887.8:c.351-1060G>A|||||||rs2857638||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||6/14|ENST00000361166.10:c.600-1060G>A|||||||rs2857638||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||5/15|ENST00000361452.8:c.477-1060G>A|||||||rs2857638||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||5/15|ENST00000361676.8:c.474-1060G>A|||||||rs2857638||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||6/16|ENST00000397789.3:c.600-1060G>A|||||||rs2857638||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||6/16|ENST00000403435.5:c.600-1060G>A|||||||rs2857638||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||6/15|ENST00000403999.7:c.600-1060G>A|||||||rs2857638||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+14844G>A|||||||rs2857638||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29657129G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.199-4076G>A|||||||rs2857638||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29657129G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||6/17|ENST00000672461.1:c.600-1060G>A|||||||rs2857638||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29657129G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||7/16|ENST00000672805.1:c.*482-1060G>A|||||||rs2857638||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||6/16|ENST00000672896.1:c.600-1060G>A|||||||rs2857638||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29657129G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||7/16|ENST00000673312.2:c.*94-1060G>A|||||||rs2857638||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||4/14|ENST00000713935.1:c.351-1060G>A|||||||rs2857638||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||6/15|NM_000268.4:c.600-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||7/16|NM_001407053.1:c.486-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||5/14|NM_001407054.1:c.477-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||5/14|NM_001407055.1:c.474-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||7/17|NM_001407056.1:c.486-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||6/14|NM_001407057.1:c.600-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||5/15|NM_001407058.1:c.477-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||6/15|NM_001407059.1:c.600-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||6/14|NM_001407060.1:c.600-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||5/13|NM_001407062.1:c.477-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||4/14|NM_001407063.1:c.351-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||4/12|NM_001407064.1:c.351-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||7/17|NM_001407065.1:c.66-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||6/16|NM_001407066.1:c.600-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||6/16|NM_001407067.1:c.369-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||6/16|NM_016418.5:c.600-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||6/15|NM_181825.3:c.600-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||5/15|NM_181828.3:c.474-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||5/15|NM_181829.3:c.477-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||4/14|NM_181830.3:c.351-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||4/14|NM_181831.3:c.351-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||6/16|NM_181832.3:c.600-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+14844G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.565-4076G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||6/15|XM_017028809.3:c.486-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||6/16|XM_047441386.1:c.486-1060G>A|||||||rs2857638||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29657129G>A|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|2|41|-29|-34;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=102181;gnomADv4_1_AC_joint_XX=52852;gnomADv4_1_AC_joint_XY=49329;gnomADv4_1_AF_grpmax_joint=0.795499;gnomADv4_1_AF_joint=0.673333;gnomADv4_1_AF_joint_XX=0.68103;gnomADv4_1_AF_joint_XY=0.665278;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151754;gnomADv4_1_AN_joint_XX=77606;gnomADv4_1_AN_joint_XY=74148;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34573;gnomADv4_1_nhomalt_joint_XX=18055;gnomADv4_1_nhomalt_joint_XY=16518;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29658035 chr22_29658035_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.401;CADD_Rawscore=0.070254;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||4/14|ENST00000334961.11:c.351-154G>A|||||||rs2071622||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||6/15|ENST00000338641.10:c.600-154G>A|||||||rs2071622||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||4/14|ENST00000353887.8:c.351-154G>A|||||||rs2071622||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||6/14|ENST00000361166.10:c.600-154G>A|||||||rs2071622||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||5/15|ENST00000361452.8:c.477-154G>A|||||||rs2071622||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||5/15|ENST00000361676.8:c.474-154G>A|||||||rs2071622||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||6/16|ENST00000397789.3:c.600-154G>A|||||||rs2071622||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||6/16|ENST00000403435.5:c.600-154G>A|||||||rs2071622||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||6/15|ENST00000403999.7:c.600-154G>A|||||||rs2071622||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+15750G>A|||||||rs2071622||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.199-3170G>A|||||||rs2071622||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||6/17|ENST00000672461.1:c.600-154G>A|||||||rs2071622||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||7/16|ENST00000672805.1:c.*482-154G>A|||||||rs2071622||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||6/16|ENST00000672896.1:c.600-154G>A|||||||rs2071622||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||7/16|ENST00000673312.2:c.*94-154G>A|||||||rs2071622||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||4/14|ENST00000713935.1:c.351-154G>A|||||||rs2071622||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||6/15|NM_000268.4:c.600-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||7/16|NM_001407053.1:c.486-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||5/14|NM_001407054.1:c.477-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||5/14|NM_001407055.1:c.474-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||7/17|NM_001407056.1:c.486-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||6/14|NM_001407057.1:c.600-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||5/15|NM_001407058.1:c.477-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||6/15|NM_001407059.1:c.600-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||6/14|NM_001407060.1:c.600-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||5/13|NM_001407062.1:c.477-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||4/14|NM_001407063.1:c.351-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||4/12|NM_001407064.1:c.351-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||7/17|NM_001407065.1:c.66-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||6/16|NM_001407066.1:c.600-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||6/16|NM_001407067.1:c.369-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||6/16|NM_016418.5:c.600-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||6/15|NM_181825.3:c.600-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||5/15|NM_181828.3:c.474-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||5/15|NM_181829.3:c.477-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||4/14|NM_181830.3:c.351-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||4/14|NM_181831.3:c.351-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||6/16|NM_181832.3:c.600-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+15750G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.565-3170G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||6/15|XM_017028809.3:c.486-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||6/16|XM_047441386.1:c.486-154G>A|||||||rs2071622||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29658035G>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29658035G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=676986;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|-11|7|14|-25;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56734;gnomADv4_1_AC_joint_XX=29716;gnomADv4_1_AC_joint_XY=27018;gnomADv4_1_AF_grpmax_joint=0.470061;gnomADv4_1_AF_joint=0.373471;gnomADv4_1_AF_joint_XX=0.382504;gnomADv4_1_AF_joint_XY=0.364016;gnomADv4_1_AN_grpmax_joint=67938;gnomADv4_1_AN_joint=151910;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11293;gnomADv4_1_nhomalt_joint_XX=6044;gnomADv4_1_nhomalt_joint_XY=5249;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29659685 chr22_29659685_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.584;CADD_Rawscore=0.102393;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||5/14|ENST00000334961.11:c.426+1421A>G|||||||rs2857639||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||7/15|ENST00000338641.10:c.675+1421A>G|||||||rs2857639||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||5/14|ENST00000353887.8:c.426+1421A>G|||||||rs2857639||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||7/14|ENST00000361166.10:c.675+1421A>G|||||||rs2857639||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||6/15|ENST00000361452.8:c.552+1421A>G|||||||rs2857639||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||6/15|ENST00000361676.8:c.549+1421A>G|||||||rs2857639||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||7/16|ENST00000397789.3:c.675+1421A>G|||||||rs2857639||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||7/16|ENST00000403435.5:c.675+1421A>G|||||||rs2857639||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||7/15|ENST00000403999.7:c.675+1421A>G|||||||rs2857639||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+17400A>G|||||||rs2857639||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29659685A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.199-1520A>G|||||||rs2857639||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29659685A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||7/17|ENST00000672461.1:c.675+1421A>G|||||||rs2857639||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29659685A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||8/16|ENST00000672805.1:c.*557+1421A>G|||||||rs2857639||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||7/16|ENST00000672896.1:c.675+1421A>G|||||||rs2857639||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29659685A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||8/16|ENST00000673312.2:c.*169+1421A>G|||||||rs2857639||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||5/14|ENST00000713935.1:c.426+1421A>G|||||||rs2857639||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||7/15|NM_000268.4:c.675+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||8/16|NM_001407053.1:c.561+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||6/14|NM_001407054.1:c.552+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||6/14|NM_001407055.1:c.549+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||8/17|NM_001407056.1:c.561+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||7/14|NM_001407057.1:c.675+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||6/15|NM_001407058.1:c.552+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||7/15|NM_001407059.1:c.675+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||7/14|NM_001407060.1:c.675+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||6/13|NM_001407062.1:c.552+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||5/14|NM_001407063.1:c.426+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||5/12|NM_001407064.1:c.426+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||8/17|NM_001407065.1:c.141+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||7/16|NM_001407066.1:c.675+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||7/16|NM_001407067.1:c.444+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||7/16|NM_016418.5:c.675+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||7/15|NM_181825.3:c.675+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||6/15|NM_181828.3:c.549+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||6/15|NM_181829.3:c.552+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||5/14|NM_181830.3:c.426+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||5/14|NM_181831.3:c.426+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||7/16|NM_181832.3:c.675+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+17400A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.565-1520A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||7/15|XM_017028809.3:c.561+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||7/16|XM_047441386.1:c.561+1421A>G|||||||rs2857639||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29659685A>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-48|2|-1|20;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56784;gnomADv4_1_AC_joint_XX=29736;gnomADv4_1_AC_joint_XY=27048;gnomADv4_1_AF_grpmax_joint=0.4702;gnomADv4_1_AF_joint=0.373422;gnomADv4_1_AF_joint_XX=0.382506;gnomADv4_1_AF_joint_XY=0.36392;gnomADv4_1_AN_grpmax_joint=67954;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11306;gnomADv4_1_nhomalt_joint_XX=6053;gnomADv4_1_nhomalt_joint_XY=5253;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29660196 chr22_29660196_T_G T G 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.75;AF_XX=.;AF_XY=0.75;AN=4;AN_XX=0;AN_XY=4;AQ=47;CADD_PHREDscore=5.555;CADD_Rawscore=0.508931;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||5/14|ENST00000334961.11:c.427-1009T>G|||||||rs2530672||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||7/15|ENST00000338641.10:c.676-1009T>G|||||||rs2530672||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||5/14|ENST00000353887.8:c.427-1009T>G|||||||rs2530672||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||7/14|ENST00000361166.10:c.675+1932T>G|||||||rs2530672||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||6/15|ENST00000361452.8:c.553-1009T>G|||||||rs2530672||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||6/15|ENST00000361676.8:c.550-1009T>G|||||||rs2530672||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||7/16|ENST00000397789.3:c.676-1009T>G|||||||rs2530672||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||7/16|ENST00000403435.5:c.676-1009T>G|||||||rs2530672||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||7/15|ENST00000403999.7:c.676-1009T>G|||||||rs2530672||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+17911T>G|||||||rs2530672||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29660196T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.199-1009T>G|||||||rs2530672||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29660196T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||7/17|ENST00000672461.1:c.676-1009T>G|||||||rs2530672||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29660196T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||8/16|ENST00000672805.1:c.*558-1009T>G|||||||rs2530672||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||7/16|ENST00000672896.1:c.676-1009T>G|||||||rs2530672||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29660196T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||8/16|ENST00000673312.2:c.*170-1009T>G|||||||rs2530672||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||5/14|ENST00000713935.1:c.427-1009T>G|||||||rs2530672||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||7/15|NM_000268.4:c.676-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||8/16|NM_001407053.1:c.562-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||6/14|NM_001407054.1:c.553-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||6/14|NM_001407055.1:c.550-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||8/17|NM_001407056.1:c.562-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||7/14|NM_001407057.1:c.675+1932T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||6/15|NM_001407058.1:c.553-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||7/15|NM_001407059.1:c.675+1932T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||7/14|NM_001407060.1:c.676-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||6/13|NM_001407062.1:c.552+1932T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||5/14|NM_001407063.1:c.427-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||5/12|NM_001407064.1:c.427-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||8/17|NM_001407065.1:c.142-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||7/16|NM_001407066.1:c.676-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||7/16|NM_001407067.1:c.445-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||7/16|NM_016418.5:c.676-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||7/15|NM_181825.3:c.676-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||6/15|NM_181828.3:c.550-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||6/15|NM_181829.3:c.553-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||5/14|NM_181830.3:c.427-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||5/14|NM_181831.3:c.427-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||7/16|NM_181832.3:c.676-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+17911T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.565-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||7/15|XM_017028809.3:c.562-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||7/16|XM_047441386.1:c.562-1009T>G|||||||rs2530672||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29660196T>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.02|0.00|-1|5|-1|-2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56970;gnomADv4_1_AC_joint_XX=29828;gnomADv4_1_AC_joint_XY=27142;gnomADv4_1_AF_grpmax_joint=0.470329;gnomADv4_1_AF_joint=0.374847;gnomADv4_1_AF_joint_XX=0.383897;gnomADv4_1_AF_joint_XY=0.365382;gnomADv4_1_AN_grpmax_joint=67946;gnomADv4_1_AN_joint=151982;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11331;gnomADv4_1_nhomalt_joint_XX=6064;gnomADv4_1_nhomalt_joint_XY=5267;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29660729 chr22_29660729_AT_A AT A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.462;CADDIndel_Rawscore=-0.213148;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||5/14|ENST00000334961.11:c.427-469del|||||||rs202047982||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1|6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||7/15|ENST00000338641.10:c.676-469del|||||||rs202047982||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1|6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||5/14|ENST00000353887.8:c.427-469del|||||||rs202047982||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1|6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||7/14|ENST00000361166.10:c.675+2472del|||||||rs202047982||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1|6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||6/15|ENST00000361452.8:c.553-469del|||||||rs202047982||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1|6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||6/15|ENST00000361676.8:c.550-469del|||||||rs202047982||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1|6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||7/16|ENST00000397789.3:c.676-469del|||||||rs202047982||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||7/16|ENST00000403435.5:c.676-469del|||||||rs202047982||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1|6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||7/15|ENST00000403999.7:c.676-469del|||||||rs202047982||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+18451del|||||||rs202047982||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1|6|chr22:g.29660736del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.199-469del|||||||rs202047982||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1|6|chr22:g.29660736del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||7/17|ENST00000672461.1:c.676-469del|||||||rs202047982||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|6|chr22:g.29660736del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||8/16|ENST00000672805.1:c.*558-469del|||||||rs202047982||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1|6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||7/16|ENST00000672896.1:c.676-469del|||||||rs202047982||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|6|chr22:g.29660736del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||8/16|ENST00000673312.2:c.*170-469del|||||||rs202047982||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1|6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||5/14|ENST00000713935.1:c.427-469del|||||||rs202047982||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1|6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||7/15|NM_000268.4:c.676-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||8/16|NM_001407053.1:c.562-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||6/14|NM_001407054.1:c.553-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||6/14|NM_001407055.1:c.550-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||8/17|NM_001407056.1:c.562-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||7/14|NM_001407057.1:c.675+2472del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||6/15|NM_001407058.1:c.553-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||7/15|NM_001407059.1:c.675+2472del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||7/14|NM_001407060.1:c.676-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||6/13|NM_001407062.1:c.552+2472del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||5/14|NM_001407063.1:c.427-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||5/12|NM_001407064.1:c.427-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||8/17|NM_001407065.1:c.142-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||7/16|NM_001407066.1:c.676-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||7/16|NM_001407067.1:c.445-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||7/16|NM_016418.5:c.676-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||7/15|NM_181825.3:c.676-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||6/15|NM_181828.3:c.550-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||6/15|NM_181829.3:c.553-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||5/14|NM_181830.3:c.427-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||5/14|NM_181831.3:c.427-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||7/16|NM_181832.3:c.676-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+18451del|||||||rs202047982||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.565-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||7/15|XM_017028809.3:c.562-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||7/16|XM_047441386.1:c.562-469del|||||||rs202047982||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T|||6|chr22:g.29660736del|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|-23|22|7|-5;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14170;gnomADv4_1_AC_joint_XX=7057;gnomADv4_1_AC_joint_XY=7113;gnomADv4_1_AF_grpmax_joint=0.162854;gnomADv4_1_AF_joint=0.0931869;gnomADv4_1_AF_joint_XX=0.0908143;gnomADv4_1_AF_joint_XY=0.0956666;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=152060;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=859;gnomADv4_1_nhomalt_joint_XX=430;gnomADv4_1_nhomalt_joint_XY=429;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29660956 chr22_29660956_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.024;CADD_Rawscore=-1.00986;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||5/14|ENST00000334961.11:c.427-249G>A|||||||rs2857640||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||7/15|ENST00000338641.10:c.676-249G>A|||||||rs2857640||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||5/14|ENST00000353887.8:c.427-249G>A|||||||rs2857640||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||7/14|ENST00000361166.10:c.675+2692G>A|||||||rs2857640||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||6/15|ENST00000361452.8:c.553-249G>A|||||||rs2857640||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||6/15|ENST00000361676.8:c.550-249G>A|||||||rs2857640||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||7/16|ENST00000397789.3:c.676-249G>A|||||||rs2857640||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||7/16|ENST00000403435.5:c.676-249G>A|||||||rs2857640||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||7/15|ENST00000403999.7:c.676-249G>A|||||||rs2857640||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+18671G>A|||||||rs2857640||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||2/7|ENST00000432151.5:c.199-249G>A|||||||rs2857640||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||7/17|ENST00000672461.1:c.676-249G>A|||||||rs2857640||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||8/16|ENST00000672805.1:c.*558-249G>A|||||||rs2857640||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||7/16|ENST00000672896.1:c.676-249G>A|||||||rs2857640||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||8/16|ENST00000673312.2:c.*170-249G>A|||||||rs2857640||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||5/14|ENST00000713935.1:c.427-249G>A|||||||rs2857640||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||7/15|NM_000268.4:c.676-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||8/16|NM_001407053.1:c.562-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||6/14|NM_001407054.1:c.553-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||6/14|NM_001407055.1:c.550-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||8/17|NM_001407056.1:c.562-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||7/14|NM_001407057.1:c.675+2692G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||6/15|NM_001407058.1:c.553-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||7/15|NM_001407059.1:c.675+2692G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||7/14|NM_001407060.1:c.676-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||6/13|NM_001407062.1:c.552+2692G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||5/14|NM_001407063.1:c.427-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||5/12|NM_001407064.1:c.427-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||8/17|NM_001407065.1:c.142-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||7/16|NM_001407066.1:c.676-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||7/16|NM_001407067.1:c.445-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||7/16|NM_016418.5:c.676-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||7/15|NM_181825.3:c.676-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||6/15|NM_181828.3:c.550-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||6/15|NM_181829.3:c.553-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||5/14|NM_181830.3:c.427-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||5/14|NM_181831.3:c.427-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||7/16|NM_181832.3:c.676-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+18671G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||2/7|NR_176267.1:n.565-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||7/15|XM_017028809.3:c.562-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||7/16|XM_047441386.1:c.562-249G>A|||||||rs2857640||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29660956G>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29660956G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=676987;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|3|-5|3|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56770;gnomADv4_1_AC_joint_XX=29720;gnomADv4_1_AC_joint_XY=27050;gnomADv4_1_AF_grpmax_joint=0.470079;gnomADv4_1_AF_joint=0.373212;gnomADv4_1_AF_joint_XX=0.382231;gnomADv4_1_AF_joint_XY=0.363781;gnomADv4_1_AN_grpmax_joint=67980;gnomADv4_1_AN_joint=152112;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11304;gnomADv4_1_nhomalt_joint_XX=6046;gnomADv4_1_nhomalt_joint_XY=5258;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29661585 chr22_29661585_A_G A G 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.392;CADD_Rawscore=-0.254203;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||6/14|ENST00000334961.11:c.561+246A>G|||||||rs2857641||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||8/15|ENST00000338641.10:c.810+246A>G|||||||rs2857641||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||6/14|ENST00000353887.8:c.561+246A>G|||||||rs2857641||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||7/14|ENST00000361166.10:c.675+3321A>G|||||||rs2857641||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||7/15|ENST00000361452.8:c.687+246A>G|||||||rs2857641||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||7/15|ENST00000361676.8:c.684+246A>G|||||||rs2857641||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||8/16|ENST00000397789.3:c.810+246A>G|||||||rs2857641||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||8/16|ENST00000403435.5:c.810+246A>G|||||||rs2857641||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||8/15|ENST00000403999.7:c.810+246A>G|||||||rs2857641||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+19300A>G|||||||rs2857641||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||3/7|ENST00000432151.5:c.333+246A>G|||||||rs2857641||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||8/17|ENST00000672461.1:c.810+246A>G|||||||rs2857641||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||9/16|ENST00000672805.1:c.*692+246A>G|||||||rs2857641||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||8/16|ENST00000672896.1:c.810+246A>G|||||||rs2857641||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||9/16|ENST00000673312.2:c.*304+246A>G|||||||rs2857641||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||6/14|ENST00000713935.1:c.561+246A>G|||||||rs2857641||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||8/15|NM_000268.4:c.810+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||9/16|NM_001407053.1:c.696+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||7/14|NM_001407054.1:c.687+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||7/14|NM_001407055.1:c.684+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||9/17|NM_001407056.1:c.696+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||7/14|NM_001407057.1:c.675+3321A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||7/15|NM_001407058.1:c.687+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||7/15|NM_001407059.1:c.675+3321A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||8/14|NM_001407060.1:c.810+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||6/13|NM_001407062.1:c.552+3321A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||6/14|NM_001407063.1:c.561+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||6/12|NM_001407064.1:c.561+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||9/17|NM_001407065.1:c.276+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||8/16|NM_001407066.1:c.810+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||8/16|NM_001407067.1:c.579+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||8/16|NM_016418.5:c.810+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||8/15|NM_181825.3:c.810+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||7/15|NM_181828.3:c.684+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||7/15|NM_181829.3:c.687+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||6/14|NM_181830.3:c.561+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||6/14|NM_181831.3:c.561+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||8/16|NM_181832.3:c.810+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+19300A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||3/7|NR_176267.1:n.699+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||8/15|XM_017028809.3:c.696+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||8/16|XM_047441386.1:c.696+246A>G|||||||rs2857641||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29661585A>G|benign||1||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FQTL|enhancer||||||||||rs2857641|||||||||||||||||||||chr22:g.29661585A>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29661585A>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=676988;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|49|-50|6|-7;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1,ENSR22_9FQTL;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,.;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56742;gnomADv4_1_AC_joint_XX=29709;gnomADv4_1_AC_joint_XY=27033;gnomADv4_1_AF_grpmax_joint=0.46968;gnomADv4_1_AF_joint=0.372993;gnomADv4_1_AF_joint_XX=0.382099;gnomADv4_1_AF_joint_XY=0.363474;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11290;gnomADv4_1_nhomalt_joint_XX=6041;gnomADv4_1_nhomalt_joint_XY=5249;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29661831 chr22_29661831_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.803;CADD_Rawscore=0.136457;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||6/14|ENST00000334961.11:c.561+492C>T|||||||rs2857642||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||8/15|ENST00000338641.10:c.810+492C>T|||||||rs2857642||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||6/14|ENST00000353887.8:c.561+492C>T|||||||rs2857642||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||7/14|ENST00000361166.10:c.676-3159C>T|||||||rs2857642||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||7/15|ENST00000361452.8:c.687+492C>T|||||||rs2857642||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||7/15|ENST00000361676.8:c.684+492C>T|||||||rs2857642||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||8/16|ENST00000397789.3:c.810+492C>T|||||||rs2857642||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||8/16|ENST00000403435.5:c.810+492C>T|||||||rs2857642||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||8/15|ENST00000403999.7:c.810+492C>T|||||||rs2857642||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+19546C>T|||||||rs2857642||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29661831C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||3/7|ENST00000432151.5:c.333+492C>T|||||||rs2857642||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29661831C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||8/17|ENST00000672461.1:c.810+492C>T|||||||rs2857642||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29661831C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||9/16|ENST00000672805.1:c.*692+492C>T|||||||rs2857642||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||8/16|ENST00000672896.1:c.810+492C>T|||||||rs2857642||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29661831C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||9/16|ENST00000673312.2:c.*304+492C>T|||||||rs2857642||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||6/14|ENST00000713935.1:c.561+492C>T|||||||rs2857642||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||8/15|NM_000268.4:c.810+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||9/16|NM_001407053.1:c.696+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||7/14|NM_001407054.1:c.687+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||7/14|NM_001407055.1:c.684+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||9/17|NM_001407056.1:c.696+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||7/14|NM_001407057.1:c.676-3159C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||7/15|NM_001407058.1:c.687+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||7/15|NM_001407059.1:c.676-3159C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||8/14|NM_001407060.1:c.810+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||6/13|NM_001407062.1:c.553-3159C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||6/14|NM_001407063.1:c.561+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||6/12|NM_001407064.1:c.561+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||9/17|NM_001407065.1:c.276+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||8/16|NM_001407066.1:c.810+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||8/16|NM_001407067.1:c.579+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||8/16|NM_016418.5:c.810+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||8/15|NM_181825.3:c.810+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||7/15|NM_181828.3:c.684+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||7/15|NM_181829.3:c.687+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||6/14|NM_181830.3:c.561+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||6/14|NM_181831.3:c.561+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||8/16|NM_181832.3:c.810+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+19546C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||3/7|NR_176267.1:n.699+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||8/15|XM_017028809.3:c.696+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||8/16|XM_047441386.1:c.696+492C>T|||||||rs2857642||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29661831C>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|-50|22|-28|-33;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56653;gnomADv4_1_AC_joint_XX=29667;gnomADv4_1_AC_joint_XY=26986;gnomADv4_1_AF_grpmax_joint=0.469958;gnomADv4_1_AF_joint=0.373164;gnomADv4_1_AF_joint_XX=0.382031;gnomADv4_1_AF_joint_XY=0.363879;gnomADv4_1_AN_grpmax_joint=67938;gnomADv4_1_AN_joint=151818;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74162;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11267;gnomADv4_1_nhomalt_joint_XX=6028;gnomADv4_1_nhomalt_joint_XY=5239;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29664084 chr22_29664084_T_G T G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.059;CADD_Rawscore=-0.754926;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||6/14|ENST00000334961.11:c.562-906T>G|||||||rs2857643||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||8/15|ENST00000338641.10:c.811-906T>G|||||||rs2857643||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||6/14|ENST00000353887.8:c.562-906T>G|||||||rs2857643||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||7/14|ENST00000361166.10:c.676-906T>G|||||||rs2857643||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||7/15|ENST00000361452.8:c.688-906T>G|||||||rs2857643||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||7/15|ENST00000361676.8:c.685-906T>G|||||||rs2857643||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||8/16|ENST00000397789.3:c.811-906T>G|||||||rs2857643||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||8/16|ENST00000403435.5:c.811-906T>G|||||||rs2857643||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||8/15|ENST00000403999.7:c.811-906T>G|||||||rs2857643||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+21799T>G|||||||rs2857643||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29664084T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||3/7|ENST00000432151.5:c.334-906T>G|||||||rs2857643||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29664084T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||8/17|ENST00000672461.1:c.811-906T>G|||||||rs2857643||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29664084T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||9/16|ENST00000672805.1:c.*693-906T>G|||||||rs2857643||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||8/16|ENST00000672896.1:c.811-906T>G|||||||rs2857643||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29664084T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||9/16|ENST00000673312.2:c.*305-906T>G|||||||rs2857643||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||6/14|ENST00000713935.1:c.562-906T>G|||||||rs2857643||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||8/15|NM_000268.4:c.811-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||9/16|NM_001407053.1:c.697-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||7/14|NM_001407054.1:c.688-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||7/14|NM_001407055.1:c.685-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||9/17|NM_001407056.1:c.697-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||7/14|NM_001407057.1:c.676-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||7/15|NM_001407058.1:c.688-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||7/15|NM_001407059.1:c.676-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||8/14|NM_001407060.1:c.811-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||6/13|NM_001407062.1:c.553-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||6/14|NM_001407063.1:c.562-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||6/12|NM_001407064.1:c.562-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||9/17|NM_001407065.1:c.277-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||8/16|NM_001407066.1:c.811-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||8/16|NM_001407067.1:c.580-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||8/16|NM_016418.5:c.811-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||8/15|NM_181825.3:c.811-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||7/15|NM_181828.3:c.685-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||7/15|NM_181829.3:c.688-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||6/14|NM_181830.3:c.562-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||6/14|NM_181831.3:c.562-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||8/16|NM_181832.3:c.811-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+21799T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||3/7|NR_176267.1:n.700-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||8/15|XM_017028809.3:c.697-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||8/16|XM_047441386.1:c.697-906T>G|||||||rs2857643||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29664084T>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|49|-42|-7|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=93675;gnomADv4_1_AC_joint_XX=48330;gnomADv4_1_AC_joint_XY=45345;gnomADv4_1_AF_grpmax_joint=0.802667;gnomADv4_1_AF_joint=0.616145;gnomADv4_1_AF_joint_XX=0.621688;gnomADv4_1_AF_joint_XY=0.610345;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152034;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=29277;gnomADv4_1_nhomalt_joint_XX=15223;gnomADv4_1_nhomalt_joint_XY=14054;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29664371 chr22_29664371_CCACA_C CCACA C 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.471;CADDIndel_Rawscore=-0.208131;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||6/14|ENST00000334961.11:c.562-586_562-583del|||||||rs35386801||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||CACA|CACA||1|32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||8/15|ENST00000338641.10:c.811-586_811-583del|||||||rs35386801||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||CACA|CACA||1|32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||6/14|ENST00000353887.8:c.562-586_562-583del|||||||rs35386801||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||CACA|CACA||1|32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||7/14|ENST00000361166.10:c.676-586_676-583del|||||||rs35386801||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||CACA|CACA||1|32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||7/15|ENST00000361452.8:c.688-586_688-583del|||||||rs35386801||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||CACA|CACA||1|32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||7/15|ENST00000361676.8:c.685-586_685-583del|||||||rs35386801||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||CACA|CACA||1|32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||8/16|ENST00000397789.3:c.811-586_811-583del|||||||rs35386801||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||CACA|CACA||1|32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||8/16|ENST00000403435.5:c.811-586_811-583del|||||||rs35386801||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||CACA|CACA||1|32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||8/15|ENST00000403999.7:c.811-586_811-583del|||||||rs35386801||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||CACA|CACA||1|32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+22119_447+22122del|||||||rs35386801||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||CACA|CACA||1|32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||3/7|ENST00000432151.5:c.334-586_334-583del|||||||rs35386801||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||CACA|CACA||1|32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||8/17|ENST00000672461.1:c.811-586_811-583del|||||||rs35386801||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||CACA|CACA||1|32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||9/16|ENST00000672805.1:c.*693-586_*693-583del|||||||rs35386801||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||CACA|CACA||1|32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||8/16|ENST00000672896.1:c.811-586_811-583del|||||||rs35386801||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||CACA|CACA||1|32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||9/16|ENST00000673312.2:c.*305-586_*305-583del|||||||rs35386801||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||CACA|CACA||1|32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||6/14|ENST00000713935.1:c.562-586_562-583del|||||||rs35386801||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||CACA|CACA||1|32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||8/15|NM_000268.4:c.811-586_811-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||9/16|NM_001407053.1:c.697-586_697-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||7/14|NM_001407054.1:c.688-586_688-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||7/14|NM_001407055.1:c.685-586_685-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||9/17|NM_001407056.1:c.697-586_697-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||7/14|NM_001407057.1:c.676-586_676-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||7/15|NM_001407058.1:c.688-586_688-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||7/15|NM_001407059.1:c.676-586_676-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||8/14|NM_001407060.1:c.811-586_811-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||6/13|NM_001407062.1:c.553-586_553-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||6/14|NM_001407063.1:c.562-586_562-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||6/12|NM_001407064.1:c.562-586_562-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||9/17|NM_001407065.1:c.277-586_277-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||8/16|NM_001407066.1:c.811-586_811-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||8/16|NM_001407067.1:c.580-586_580-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||8/16|NM_016418.5:c.811-586_811-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||CACA|CACA|OK||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||8/15|NM_181825.3:c.811-586_811-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||7/15|NM_181828.3:c.685-586_685-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||7/15|NM_181829.3:c.688-586_688-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||6/14|NM_181830.3:c.562-586_562-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||6/14|NM_181831.3:c.562-586_562-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||8/16|NM_181832.3:c.811-586_811-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+22119_447+22122del|||||||rs35386801||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||3/7|NR_176267.1:n.700-586_700-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||8/15|XM_017028809.3:c.697-586_697-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||8/16|XM_047441386.1:c.697-586_697-583del|||||||rs35386801||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||CACA|CACA|||32|chr22:g.29664404_29664407del|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-41|38|-41|9;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55209;gnomADv4_1_AC_joint_XX=29088;gnomADv4_1_AC_joint_XY=26121;gnomADv4_1_AF_grpmax_joint=0.449541;gnomADv4_1_AF_joint=0.377575;gnomADv4_1_AF_joint_XX=0.386603;gnomADv4_1_AF_joint_XY=0.368005;gnomADv4_1_AN_grpmax_joint=66430;gnomADv4_1_AN_joint=146220;gnomADv4_1_AN_joint_XX=75240;gnomADv4_1_AN_joint_XY=70980;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10463;gnomADv4_1_nhomalt_joint_XX=5663;gnomADv4_1_nhomalt_joint_XY=4800;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29665236 chr22_29665236_GT_G GT G 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.055;CADDIndel_Rawscore=-0.772612;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||7/14|ENST00000334961.11:c.636+183del|||||||rs35328234||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1|10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||9/15|ENST00000338641.10:c.885+183del|||||||rs35328234||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1|10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||7/14|ENST00000353887.8:c.636+183del|||||||rs35328234||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1|10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||8/14|ENST00000361166.10:c.750+183del|||||||rs35328234||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1|10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||8/15|ENST00000361452.8:c.762+183del|||||||rs35328234||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1|10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||8/15|ENST00000361676.8:c.759+183del|||||||rs35328234||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1|10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||9/16|ENST00000397789.3:c.885+183del|||||||rs35328234||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||9/16|ENST00000403435.5:c.885+183del|||||||rs35328234||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1|10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||9/15|ENST00000403999.7:c.885+183del|||||||rs35328234||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+22962del|||||||rs35328234||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1|10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||4/7|ENST00000432151.5:c.408+183del|||||||rs35328234||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1|10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||9/17|ENST00000672461.1:c.885+183del|||||||rs35328234||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||10/16|ENST00000672805.1:c.*767+183del|||||||rs35328234||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1|10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||9/16|ENST00000672896.1:c.885+183del|||||||rs35328234||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||10/16|ENST00000673312.2:c.*379+183del|||||||rs35328234||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1|10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||7/14|ENST00000713935.1:c.636+183del|||||||rs35328234||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1|10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||9/15|NM_000268.4:c.885+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||10/16|NM_001407053.1:c.771+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||8/14|NM_001407054.1:c.762+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||8/14|NM_001407055.1:c.759+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||10/17|NM_001407056.1:c.771+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||8/14|NM_001407057.1:c.750+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||8/15|NM_001407058.1:c.762+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||8/15|NM_001407059.1:c.750+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||9/14|NM_001407060.1:c.885+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||7/13|NM_001407062.1:c.627+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||7/14|NM_001407063.1:c.636+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||7/12|NM_001407064.1:c.636+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||10/17|NM_001407065.1:c.351+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||9/16|NM_001407066.1:c.885+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||9/16|NM_001407067.1:c.654+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||9/16|NM_016418.5:c.885+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||9/15|NM_181825.3:c.885+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||8/15|NM_181828.3:c.759+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||8/15|NM_181829.3:c.762+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||7/14|NM_181830.3:c.636+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||7/14|NM_181831.3:c.636+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||9/16|NM_181832.3:c.885+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+22962del|||||||rs35328234||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||4/7|NR_176267.1:n.774+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||9/15|XM_017028809.3:c.771+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||9/16|XM_047441386.1:c.771+183del|||||||rs35328234||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T|||10|chr22:g.29665247del|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29665247del;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=1235404;SpliceAI=G|NF2|0.01|0.00|0.00|0.00|30|50|-28|50;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91474;gnomADv4_1_AC_joint_XX=47361;gnomADv4_1_AC_joint_XY=44113;gnomADv4_1_AF_grpmax_joint=0.794963;gnomADv4_1_AF_joint=0.615365;gnomADv4_1_AF_joint_XX=0.621144;gnomADv4_1_AF_joint_XY=0.609279;gnomADv4_1_AN_grpmax_joint=5082;gnomADv4_1_AN_joint=148650;gnomADv4_1_AN_joint_XX=76248;gnomADv4_1_AN_joint_XY=72402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=28176;gnomADv4_1_nhomalt_joint_XX=14729;gnomADv4_1_nhomalt_joint_XY=13447;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29665964 chr22_29665964_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.337;CADD_Rawscore=-0.292755;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||7/14|ENST00000334961.11:c.636+900A>G|||||||rs2857645||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||9/15|ENST00000338641.10:c.885+900A>G|||||||rs2857645||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||7/14|ENST00000353887.8:c.636+900A>G|||||||rs2857645||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||8/14|ENST00000361166.10:c.750+900A>G|||||||rs2857645||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||8/15|ENST00000361452.8:c.762+900A>G|||||||rs2857645||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||8/15|ENST00000361676.8:c.759+900A>G|||||||rs2857645||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||9/16|ENST00000397789.3:c.885+900A>G|||||||rs2857645||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||9/16|ENST00000403435.5:c.885+900A>G|||||||rs2857645||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||9/15|ENST00000403999.7:c.885+900A>G|||||||rs2857645||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+23679A>G|||||||rs2857645||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29665964A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||4/7|ENST00000432151.5:c.408+900A>G|||||||rs2857645||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29665964A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||9/17|ENST00000672461.1:c.885+900A>G|||||||rs2857645||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29665964A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||10/16|ENST00000672805.1:c.*767+900A>G|||||||rs2857645||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||9/16|ENST00000672896.1:c.885+900A>G|||||||rs2857645||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29665964A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||10/16|ENST00000673312.2:c.*379+900A>G|||||||rs2857645||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||7/14|ENST00000713935.1:c.636+900A>G|||||||rs2857645||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||9/15|NM_000268.4:c.885+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||10/16|NM_001407053.1:c.771+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||8/14|NM_001407054.1:c.762+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||8/14|NM_001407055.1:c.759+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||10/17|NM_001407056.1:c.771+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||8/14|NM_001407057.1:c.750+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||8/15|NM_001407058.1:c.762+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||8/15|NM_001407059.1:c.750+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||9/14|NM_001407060.1:c.885+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||7/13|NM_001407062.1:c.627+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||7/14|NM_001407063.1:c.636+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||7/12|NM_001407064.1:c.636+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||10/17|NM_001407065.1:c.351+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||9/16|NM_001407066.1:c.885+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||9/16|NM_001407067.1:c.654+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||9/16|NM_016418.5:c.885+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||9/15|NM_181825.3:c.885+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||8/15|NM_181828.3:c.759+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||8/15|NM_181829.3:c.762+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||7/14|NM_181830.3:c.636+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||7/14|NM_181831.3:c.636+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||9/16|NM_181832.3:c.885+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+23679A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||4/7|NR_176267.1:n.774+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||9/15|XM_017028809.3:c.771+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||9/16|XM_047441386.1:c.771+900A>G|||||||rs2857645||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29665964A>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-46|30|30|-18;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56890;gnomADv4_1_AC_joint_XX=29779;gnomADv4_1_AC_joint_XY=27111;gnomADv4_1_AF_grpmax_joint=0.470461;gnomADv4_1_AF_joint=0.374597;gnomADv4_1_AF_joint_XX=0.383454;gnomADv4_1_AF_joint_XY=0.365328;gnomADv4_1_AN_grpmax_joint=67944;gnomADv4_1_AN_joint=151870;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=74210;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11334;gnomADv4_1_nhomalt_joint_XX=6057;gnomADv4_1_nhomalt_joint_XY=5277;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29666386 chr22_29666386_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.055;CADD_Rawscore=-0.774179;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||7/14|ENST00000334961.11:c.636+1322A>G|||||||rs2857646||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||9/15|ENST00000338641.10:c.885+1322A>G|||||||rs2857646||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||7/14|ENST00000353887.8:c.636+1322A>G|||||||rs2857646||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||8/14|ENST00000361166.10:c.750+1322A>G|||||||rs2857646||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||8/15|ENST00000361452.8:c.762+1322A>G|||||||rs2857646||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||8/15|ENST00000361676.8:c.759+1322A>G|||||||rs2857646||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||9/16|ENST00000397789.3:c.885+1322A>G|||||||rs2857646||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||9/16|ENST00000403435.5:c.885+1322A>G|||||||rs2857646||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||9/15|ENST00000403999.7:c.885+1322A>G|||||||rs2857646||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+24101A>G|||||||rs2857646||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29666386A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||4/7|ENST00000432151.5:c.408+1322A>G|||||||rs2857646||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29666386A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||9/17|ENST00000672461.1:c.885+1322A>G|||||||rs2857646||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29666386A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||10/16|ENST00000672805.1:c.*767+1322A>G|||||||rs2857646||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||9/16|ENST00000672896.1:c.885+1322A>G|||||||rs2857646||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29666386A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||10/16|ENST00000673312.2:c.*379+1322A>G|||||||rs2857646||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||7/14|ENST00000713935.1:c.636+1322A>G|||||||rs2857646||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||9/15|NM_000268.4:c.885+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||10/16|NM_001407053.1:c.771+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||8/14|NM_001407054.1:c.762+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||8/14|NM_001407055.1:c.759+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||10/17|NM_001407056.1:c.771+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||8/14|NM_001407057.1:c.750+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||8/15|NM_001407058.1:c.762+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||8/15|NM_001407059.1:c.750+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||9/14|NM_001407060.1:c.885+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||7/13|NM_001407062.1:c.627+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||7/14|NM_001407063.1:c.636+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||7/12|NM_001407064.1:c.636+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||10/17|NM_001407065.1:c.351+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||9/16|NM_001407066.1:c.885+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||9/16|NM_001407067.1:c.654+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||9/16|NM_016418.5:c.885+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||9/15|NM_181825.3:c.885+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||8/15|NM_181828.3:c.759+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||8/15|NM_181829.3:c.762+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||7/14|NM_181830.3:c.636+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||7/14|NM_181831.3:c.636+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||9/16|NM_181832.3:c.885+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+24101A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||4/7|NR_176267.1:n.774+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||9/15|XM_017028809.3:c.771+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||9/16|XM_047441386.1:c.771+1322A>G|||||||rs2857646||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29666386A>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-34|2|32|-31;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=93396;gnomADv4_1_AC_joint_XX=48153;gnomADv4_1_AC_joint_XY=45243;gnomADv4_1_AF_grpmax_joint=0.802911;gnomADv4_1_AF_joint=0.615922;gnomADv4_1_AF_joint_XX=0.621345;gnomADv4_1_AF_joint_XY=0.610254;gnomADv4_1_AN_grpmax_joint=5084;gnomADv4_1_AN_joint=151636;gnomADv4_1_AN_joint_XX=77498;gnomADv4_1_AN_joint_XY=74138;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=29148;gnomADv4_1_nhomalt_joint_XX=15128;gnomADv4_1_nhomalt_joint_XY=14020;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29667561 chr22_29667561_G_T G T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.647;CADD_Rawscore=-0.128861;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||7/14|ENST00000334961.11:c.637-772G>T|||||||rs2527334||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||9/15|ENST00000338641.10:c.886-772G>T|||||||rs2527334||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||7/14|ENST00000353887.8:c.637-772G>T|||||||rs2527334||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||8/14|ENST00000361166.10:c.751-772G>T|||||||rs2527334||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||8/15|ENST00000361452.8:c.763-772G>T|||||||rs2527334||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||8/15|ENST00000361676.8:c.760-772G>T|||||||rs2527334||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||9/16|ENST00000397789.3:c.886-772G>T|||||||rs2527334||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||9/16|ENST00000403435.5:c.886-772G>T|||||||rs2527334||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||9/15|ENST00000403999.7:c.886-772G>T|||||||rs2527334||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+25276G>T|||||||rs2527334||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29667561G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||4/7|ENST00000432151.5:c.409-772G>T|||||||rs2527334||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29667561G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||9/17|ENST00000672461.1:c.886-772G>T|||||||rs2527334||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29667561G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||10/16|ENST00000672805.1:c.*768-772G>T|||||||rs2527334||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||9/16|ENST00000672896.1:c.886-772G>T|||||||rs2527334||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29667561G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||10/16|ENST00000673312.2:c.*380-772G>T|||||||rs2527334||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||7/14|ENST00000713935.1:c.637-772G>T|||||||rs2527334||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||9/15|NM_000268.4:c.886-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||10/16|NM_001407053.1:c.772-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||8/14|NM_001407054.1:c.763-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||8/14|NM_001407055.1:c.760-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||10/17|NM_001407056.1:c.772-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||8/14|NM_001407057.1:c.751-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||8/15|NM_001407058.1:c.763-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||8/15|NM_001407059.1:c.751-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||9/14|NM_001407060.1:c.886-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||7/13|NM_001407062.1:c.628-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||7/14|NM_001407063.1:c.637-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||7/12|NM_001407064.1:c.637-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||10/17|NM_001407065.1:c.352-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||9/16|NM_001407066.1:c.886-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||9/16|NM_001407067.1:c.655-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||9/16|NM_016418.5:c.886-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||9/15|NM_181825.3:c.886-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||8/15|NM_181828.3:c.760-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||8/15|NM_181829.3:c.763-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||7/14|NM_181830.3:c.637-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||7/14|NM_181831.3:c.637-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||9/16|NM_181832.3:c.886-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+25276G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||4/7|NR_176267.1:n.775-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||9/15|XM_017028809.3:c.772-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||9/16|XM_047441386.1:c.772-772G>T|||||||rs2527334||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29667561G>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|13|37|-20|-5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=94122;gnomADv4_1_AC_joint_XX=48534;gnomADv4_1_AC_joint_XY=45588;gnomADv4_1_AF_grpmax_joint=0.805114;gnomADv4_1_AF_joint=0.619991;gnomADv4_1_AF_joint_XX=0.625374;gnomADv4_1_AF_joint_XY=0.61436;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151812;gnomADv4_1_AN_joint_XX=77608;gnomADv4_1_AN_joint_XY=74204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=29556;gnomADv4_1_nhomalt_joint_XX=15367;gnomADv4_1_nhomalt_joint_XY=14189;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29668084 chr22_29668084_A_AGT A AGT 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=1.025;CADDIndel_Rawscore=-0.011421;CSQ=GT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||7/14|ENST00000334961.11:c.637-246_637-245dup|||||||rs3842712||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||9/15|ENST00000338641.10:c.886-246_886-245dup|||||||rs3842712||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||7/14|ENST00000353887.8:c.637-246_637-245dup|||||||rs3842712||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||8/14|ENST00000361166.10:c.751-246_751-245dup|||||||rs3842712||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||8/15|ENST00000361452.8:c.763-246_763-245dup|||||||rs3842712||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||8/15|ENST00000361676.8:c.760-246_760-245dup|||||||rs3842712||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||9/16|ENST00000397789.3:c.886-246_886-245dup|||||||rs3842712||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||9/16|ENST00000403435.5:c.886-246_886-245dup|||||||rs3842712||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||9/15|ENST00000403999.7:c.886-246_886-245dup|||||||rs3842712||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+25802_447+25803dup|||||||rs3842712||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||4/7|ENST00000432151.5:c.409-246_409-245dup|||||||rs3842712||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||9/17|ENST00000672461.1:c.886-246_886-245dup|||||||rs3842712||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||10/16|ENST00000672805.1:c.*768-246_*768-245dup|||||||rs3842712||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||9/16|ENST00000672896.1:c.886-246_886-245dup|||||||rs3842712||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||10/16|ENST00000673312.2:c.*380-246_*380-245dup|||||||rs3842712||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||7/14|ENST00000713935.1:c.637-246_637-245dup|||||||rs3842712||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||9/15|NM_000268.4:c.886-246_886-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||10/16|NM_001407053.1:c.772-246_772-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||8/14|NM_001407054.1:c.763-246_763-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||8/14|NM_001407055.1:c.760-246_760-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||10/17|NM_001407056.1:c.772-246_772-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||8/14|NM_001407057.1:c.751-246_751-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||8/15|NM_001407058.1:c.763-246_763-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||8/15|NM_001407059.1:c.751-246_751-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||9/14|NM_001407060.1:c.886-246_886-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||7/13|NM_001407062.1:c.628-246_628-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||7/14|NM_001407063.1:c.637-246_637-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||7/12|NM_001407064.1:c.637-246_637-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||10/17|NM_001407065.1:c.352-246_352-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||9/16|NM_001407066.1:c.886-246_886-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||9/16|NM_001407067.1:c.655-246_655-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||9/16|NM_016418.5:c.886-246_886-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||9/15|NM_181825.3:c.886-246_886-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||8/15|NM_181828.3:c.760-246_760-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||8/15|NM_181829.3:c.763-246_763-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||7/14|NM_181830.3:c.637-246_637-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||7/14|NM_181831.3:c.637-246_637-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||9/16|NM_181832.3:c.886-246_886-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+25802_447+25803dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||4/7|NR_176267.1:n.775-246_775-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||9/15|XM_017028809.3:c.772-246_772-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||,GT|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||9/16|XM_047441386.1:c.772-246_772-245dup|||||||rs3842712||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||||||4|chr22:g.29668087_29668088dup|||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29668085GT[3];ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=1221398;TYPE=INDEL;VEP_Allele=GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT,GT;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56729;gnomADv4_1_AC_joint_XX=29705;gnomADv4_1_AC_joint_XY=27024;gnomADv4_1_AF_grpmax_joint=0.470054;gnomADv4_1_AF_joint=0.373369;gnomADv4_1_AF_joint_XX=0.382304;gnomADv4_1_AF_joint_XY=0.364018;gnomADv4_1_AN_grpmax_joint=67922;gnomADv4_1_AN_joint=151938;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11282;gnomADv4_1_nhomalt_joint_XX=6035;gnomADv4_1_nhomalt_joint_XY=5247;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29668128 chr22_29668128_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.812;CADD_Rawscore=-0.071314;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||7/14|ENST00000334961.11:c.637-205C>T|||||||rs2252472||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||9/15|ENST00000338641.10:c.886-205C>T|||||||rs2252472||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||7/14|ENST00000353887.8:c.637-205C>T|||||||rs2252472||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||8/14|ENST00000361166.10:c.751-205C>T|||||||rs2252472||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||8/15|ENST00000361452.8:c.763-205C>T|||||||rs2252472||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||8/15|ENST00000361676.8:c.760-205C>T|||||||rs2252472||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||9/16|ENST00000397789.3:c.886-205C>T|||||||rs2252472||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||9/16|ENST00000403435.5:c.886-205C>T|||||||rs2252472||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||9/15|ENST00000403999.7:c.886-205C>T|||||||rs2252472||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.447+25843C>T|||||||rs2252472||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||4/7|ENST00000432151.5:c.409-205C>T|||||||rs2252472||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||9/17|ENST00000672461.1:c.886-205C>T|||||||rs2252472||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||10/16|ENST00000672805.1:c.*768-205C>T|||||||rs2252472||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||9/16|ENST00000672896.1:c.886-205C>T|||||||rs2252472||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||10/16|ENST00000673312.2:c.*380-205C>T|||||||rs2252472||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||7/14|ENST00000713935.1:c.637-205C>T|||||||rs2252472||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||9/15|NM_000268.4:c.886-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||10/16|NM_001407053.1:c.772-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||8/14|NM_001407054.1:c.763-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||8/14|NM_001407055.1:c.760-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||10/17|NM_001407056.1:c.772-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||8/14|NM_001407057.1:c.751-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||8/15|NM_001407058.1:c.763-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||8/15|NM_001407059.1:c.751-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||9/14|NM_001407060.1:c.886-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||7/13|NM_001407062.1:c.628-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||7/14|NM_001407063.1:c.637-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||7/12|NM_001407064.1:c.637-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||10/17|NM_001407065.1:c.352-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||9/16|NM_001407066.1:c.886-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||9/16|NM_001407067.1:c.655-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||9/16|NM_016418.5:c.886-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||9/15|NM_181825.3:c.886-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||8/15|NM_181828.3:c.760-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||8/15|NM_181829.3:c.763-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||7/14|NM_181830.3:c.637-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||7/14|NM_181831.3:c.637-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||9/16|NM_181832.3:c.886-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.447+25843C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||4/7|NR_176267.1:n.775-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||9/15|XM_017028809.3:c.772-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||9/16|XM_047441386.1:c.772-205C>T|||||||rs2252472||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29668128C>T|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29668128C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=676989;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|35|-42|-2|35;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56789;gnomADv4_1_AC_joint_XX=29723;gnomADv4_1_AC_joint_XY=27066;gnomADv4_1_AF_grpmax_joint=0.470187;gnomADv4_1_AF_joint=0.373671;gnomADv4_1_AF_joint_XX=0.382526;gnomADv4_1_AF_joint_XY=0.364407;gnomADv4_1_AN_grpmax_joint=67956;gnomADv4_1_AN_joint=151976;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11317;gnomADv4_1_nhomalt_joint_XX=6046;gnomADv4_1_nhomalt_joint_XY=5271;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29668742 chr22_29668742_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.044;CADD_Rawscore=-0.836965;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||8/14|ENST00000334961.11:c.750+296A>G|||||||rs2252587||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||10/15|ENST00000338641.10:c.999+296A>G|||||||rs2252587||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||8/14|ENST00000353887.8:c.750+296A>G|||||||rs2252587||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||9/14|ENST00000361166.10:c.864+296A>G|||||||rs2252587||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||9/15|ENST00000361452.8:c.876+296A>G|||||||rs2252587||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||9/15|ENST00000361676.8:c.873+296A>G|||||||rs2252587||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||10/16|ENST00000397789.3:c.999+296A>G|||||||rs2252587||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||10/16|ENST00000403435.5:c.999+296A>G|||||||rs2252587||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||10/15|ENST00000403999.7:c.999+296A>G|||||||rs2252587||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-26010A>G|||||||rs2252587||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||5/7|ENST00000432151.5:c.522+296A>G|||||||rs2252587||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||10/17|ENST00000672461.1:c.999+296A>G|||||||rs2252587||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||11/16|ENST00000672805.1:c.*881+296A>G|||||||rs2252587||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||10/16|ENST00000672896.1:c.999+296A>G|||||||rs2252587||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||11/16|ENST00000673312.2:c.*493+296A>G|||||||rs2252587||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||8/14|ENST00000713935.1:c.750+296A>G|||||||rs2252587||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||10/15|NM_000268.4:c.999+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||11/16|NM_001407053.1:c.885+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||9/14|NM_001407054.1:c.876+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||9/14|NM_001407055.1:c.873+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||11/17|NM_001407056.1:c.885+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||9/14|NM_001407057.1:c.864+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||9/15|NM_001407058.1:c.876+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||9/15|NM_001407059.1:c.864+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||10/14|NM_001407060.1:c.999+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||8/13|NM_001407062.1:c.741+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||8/14|NM_001407063.1:c.750+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||8/12|NM_001407064.1:c.750+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||11/17|NM_001407065.1:c.465+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||10/16|NM_001407066.1:c.999+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||10/16|NM_001407067.1:c.768+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||10/16|NM_016418.5:c.999+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||10/15|NM_181825.3:c.999+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||9/15|NM_181828.3:c.873+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||9/15|NM_181829.3:c.876+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||8/14|NM_181830.3:c.750+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||8/14|NM_181831.3:c.750+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||10/16|NM_181832.3:c.999+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-26010A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||5/7|NR_176267.1:n.888+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||10/15|XM_017028809.3:c.885+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||10/16|XM_047441386.1:c.885+296A>G|||||||rs2252587||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29668742A>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29668742A>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=683803;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-18|18|-48|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56852;gnomADv4_1_AC_joint_XX=29755;gnomADv4_1_AC_joint_XY=27097;gnomADv4_1_AF_grpmax_joint=0.470025;gnomADv4_1_AF_joint=0.373599;gnomADv4_1_AF_joint_XX=0.382494;gnomADv4_1_AF_joint_XY=0.364295;gnomADv4_1_AN_grpmax_joint=67990;gnomADv4_1_AN_joint=152174;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11326;gnomADv4_1_nhomalt_joint_XX=6052;gnomADv4_1_nhomalt_joint_XY=5274;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29669824 chr22_29669824_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=5.794;CADD_Rawscore=0.532501;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||8/14|ENST00000334961.11:c.750+1378T>C|||||||rs2530673||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||10/15|ENST00000338641.10:c.999+1378T>C|||||||rs2530673||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||8/14|ENST00000353887.8:c.750+1378T>C|||||||rs2530673||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||9/14|ENST00000361166.10:c.864+1378T>C|||||||rs2530673||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||9/15|ENST00000361452.8:c.876+1378T>C|||||||rs2530673||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||9/15|ENST00000361676.8:c.873+1378T>C|||||||rs2530673||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||10/16|ENST00000397789.3:c.999+1378T>C|||||||rs2530673||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||10/16|ENST00000403435.5:c.999+1378T>C|||||||rs2530673||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||10/15|ENST00000403999.7:c.999+1378T>C|||||||rs2530673||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-24928T>C|||||||rs2530673||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29669824T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||5/7|ENST00000432151.5:c.522+1378T>C|||||||rs2530673||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29669824T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||10/17|ENST00000672461.1:c.999+1378T>C|||||||rs2530673||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29669824T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||11/16|ENST00000672805.1:c.*881+1378T>C|||||||rs2530673||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||10/16|ENST00000672896.1:c.999+1378T>C|||||||rs2530673||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29669824T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||11/16|ENST00000673312.2:c.*493+1378T>C|||||||rs2530673||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||8/14|ENST00000713935.1:c.750+1378T>C|||||||rs2530673||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||10/15|NM_000268.4:c.999+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||11/16|NM_001407053.1:c.885+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||9/14|NM_001407054.1:c.876+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||9/14|NM_001407055.1:c.873+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||11/17|NM_001407056.1:c.885+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||9/14|NM_001407057.1:c.864+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||9/15|NM_001407058.1:c.876+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||9/15|NM_001407059.1:c.864+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||10/14|NM_001407060.1:c.999+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||8/13|NM_001407062.1:c.741+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||8/14|NM_001407063.1:c.750+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||8/12|NM_001407064.1:c.750+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||11/17|NM_001407065.1:c.465+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||10/16|NM_001407066.1:c.999+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||10/16|NM_001407067.1:c.768+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||10/16|NM_016418.5:c.999+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||10/15|NM_181825.3:c.999+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||9/15|NM_181828.3:c.873+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||9/15|NM_181829.3:c.876+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||8/14|NM_181830.3:c.750+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||8/14|NM_181831.3:c.750+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||10/16|NM_181832.3:c.999+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-24928T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||5/7|NR_176267.1:n.888+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||10/15|XM_017028809.3:c.885+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||10/16|XM_047441386.1:c.885+1378T>C|||||||rs2530673||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29669824T>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|19|-33|18|-33;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57248;gnomADv4_1_AC_joint_XX=29914;gnomADv4_1_AC_joint_XY=27334;gnomADv4_1_AF_grpmax_joint=0.468938;gnomADv4_1_AF_joint=0.376438;gnomADv4_1_AF_joint_XX=0.384934;gnomADv4_1_AF_joint_XY=0.36756;gnomADv4_1_AN_grpmax_joint=67960;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11377;gnomADv4_1_nhomalt_joint_XX=6070;gnomADv4_1_nhomalt_joint_XY=5307;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29669978 chr22_29669978_G_T G T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.195;CADD_Rawscore=-0.433245;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||8/14|ENST00000334961.11:c.750+1532G>T|||||||rs2527335||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||10/15|ENST00000338641.10:c.999+1532G>T|||||||rs2527335||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||8/14|ENST00000353887.8:c.750+1532G>T|||||||rs2527335||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||9/14|ENST00000361166.10:c.864+1532G>T|||||||rs2527335||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||9/15|ENST00000361452.8:c.876+1532G>T|||||||rs2527335||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||9/15|ENST00000361676.8:c.873+1532G>T|||||||rs2527335||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||10/16|ENST00000397789.3:c.999+1532G>T|||||||rs2527335||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||10/16|ENST00000403435.5:c.999+1532G>T|||||||rs2527335||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||10/15|ENST00000403999.7:c.999+1532G>T|||||||rs2527335||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-24774G>T|||||||rs2527335||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29669978G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||5/7|ENST00000432151.5:c.522+1532G>T|||||||rs2527335||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29669978G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||10/17|ENST00000672461.1:c.999+1532G>T|||||||rs2527335||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29669978G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||11/16|ENST00000672805.1:c.*881+1532G>T|||||||rs2527335||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||10/16|ENST00000672896.1:c.999+1532G>T|||||||rs2527335||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29669978G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||11/16|ENST00000673312.2:c.*493+1532G>T|||||||rs2527335||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||8/14|ENST00000713935.1:c.750+1532G>T|||||||rs2527335||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||10/15|NM_000268.4:c.999+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||11/16|NM_001407053.1:c.885+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||9/14|NM_001407054.1:c.876+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||9/14|NM_001407055.1:c.873+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||11/17|NM_001407056.1:c.885+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||9/14|NM_001407057.1:c.864+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||9/15|NM_001407058.1:c.876+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||9/15|NM_001407059.1:c.864+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||10/14|NM_001407060.1:c.999+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||8/13|NM_001407062.1:c.741+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||8/14|NM_001407063.1:c.750+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||8/12|NM_001407064.1:c.750+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||11/17|NM_001407065.1:c.465+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||10/16|NM_001407066.1:c.999+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||10/16|NM_001407067.1:c.768+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||10/16|NM_016418.5:c.999+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||10/15|NM_181825.3:c.999+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||9/15|NM_181828.3:c.873+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||9/15|NM_181829.3:c.876+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||8/14|NM_181830.3:c.750+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||8/14|NM_181831.3:c.750+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||10/16|NM_181832.3:c.999+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-24774G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||5/7|NR_176267.1:n.888+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||10/15|XM_017028809.3:c.885+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||10/16|XM_047441386.1:c.885+1532G>T|||||||rs2527335||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29669978G>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|46|0|46|-40;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=95527;gnomADv4_1_AC_joint_XX=49335;gnomADv4_1_AC_joint_XY=46192;gnomADv4_1_AF_grpmax_joint=0.790085;gnomADv4_1_AF_joint=0.629254;gnomADv4_1_AF_joint_XX=0.635498;gnomADv4_1_AF_joint_XY=0.622718;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=151810;gnomADv4_1_AN_joint_XX=77632;gnomADv4_1_AN_joint_XY=74178;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=30289;gnomADv4_1_nhomalt_joint_XX=15774;gnomADv4_1_nhomalt_joint_XY=14515;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29670312 chr22_29670312_TTTTC_T TTTTC T 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.481;CADDIndel_Rawscore=-0.20301;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||8/14|ENST00000334961.11:c.751-1499_751-1496del|||||||rs147260738||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||TTTC|TTTC||1|14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||10/15|ENST00000338641.10:c.1000-1499_1000-1496del|||||||rs147260738||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||TTTC|TTTC||1|14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||8/14|ENST00000353887.8:c.751-1499_751-1496del|||||||rs147260738||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||TTTC|TTTC||1|14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||9/14|ENST00000361166.10:c.865-1499_865-1496del|||||||rs147260738||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||TTTC|TTTC||1|14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||9/15|ENST00000361452.8:c.877-1499_877-1496del|||||||rs147260738||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||TTTC|TTTC||1|14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||9/15|ENST00000361676.8:c.874-1499_874-1496del|||||||rs147260738||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||TTTC|TTTC||1|14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||10/16|ENST00000397789.3:c.1000-1499_1000-1496del|||||||rs147260738||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||TTTC|TTTC||1|14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||10/16|ENST00000403435.5:c.1000-1586_1000-1583del|||||||rs147260738||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||TTTC|TTTC||1|14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||10/15|ENST00000403999.7:c.1000-1499_1000-1496del|||||||rs147260738||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||TTTC|TTTC||1|14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-24425_448-24422del|||||||rs147260738||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||TTTC|TTTC||1|14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||5/7|ENST00000432151.5:c.522+1881_522+1884del|||||||rs147260738||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||TTTC|TTTC||1|14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||10/17|ENST00000672461.1:c.1000-1499_1000-1496del|||||||rs147260738||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||TTTC|TTTC||1|14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||11/16|ENST00000672805.1:c.*882-1499_*882-1496del|||||||rs147260738||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||TTTC|TTTC||1|14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||10/16|ENST00000672896.1:c.1000-1499_1000-1496del|||||||rs147260738||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||TTTC|TTTC||1|14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||11/16|ENST00000673312.2:c.*494-1499_*494-1496del|||||||rs147260738||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||TTTC|TTTC||1|14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||8/14|ENST00000713935.1:c.751-1499_751-1496del|||||||rs147260738||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||TTTC|TTTC||1|14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||10/15|NM_000268.4:c.1000-1499_1000-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||11/16|NM_001407053.1:c.886-1499_886-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||9/14|NM_001407054.1:c.877-1499_877-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||9/14|NM_001407055.1:c.874-1499_874-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||11/17|NM_001407056.1:c.886-1499_886-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||9/14|NM_001407057.1:c.865-1499_865-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||9/15|NM_001407058.1:c.877-1499_877-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||9/15|NM_001407059.1:c.865-1499_865-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||10/14|NM_001407060.1:c.1000-1499_1000-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||8/13|NM_001407062.1:c.742-1499_742-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||8/14|NM_001407063.1:c.751-1499_751-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||8/12|NM_001407064.1:c.751-1499_751-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||11/17|NM_001407065.1:c.466-1499_466-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||10/16|NM_001407066.1:c.1000-1499_1000-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||10/16|NM_001407067.1:c.769-1499_769-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||10/16|NM_016418.5:c.1000-1499_1000-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||TTTC|TTTC|OK||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||10/15|NM_181825.3:c.1000-1499_1000-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||9/15|NM_181828.3:c.874-1499_874-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||9/15|NM_181829.3:c.877-1499_877-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||8/14|NM_181830.3:c.751-1499_751-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||8/14|NM_181831.3:c.751-1499_751-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||10/16|NM_181832.3:c.1000-1499_1000-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-24425_448-24422del|||||||rs147260738||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||5/7|NR_176267.1:n.888+1881_888+1884del|||||||rs147260738||1||EntrezGene|HGNC:7773|||||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||10/15|XM_017028809.3:c.886-1499_886-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||10/16|XM_047441386.1:c.886-1499_886-1496del|||||||rs147260738||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||TTTC|TTTC|||14|chr22:g.29670327_29670330del|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|-29|21|-37|21;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46980;gnomADv4_1_AC_joint_XX=24709;gnomADv4_1_AC_joint_XY=22271;gnomADv4_1_AF_grpmax_joint=0.357648;gnomADv4_1_AF_joint=0.309931;gnomADv4_1_AF_joint_XX=0.318719;gnomADv4_1_AF_joint_XY=0.300732;gnomADv4_1_AN_grpmax_joint=67832;gnomADv4_1_AN_joint=151582;gnomADv4_1_AN_joint_XX=77526;gnomADv4_1_AN_joint_XY=74056;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7443;gnomADv4_1_nhomalt_joint_XX=4041;gnomADv4_1_nhomalt_joint_XY=3402;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29670355 chr22_29670355_G_A G A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.856;CADD_Rawscore=0.352484;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||8/14|ENST00000334961.11:c.751-1471G>A|||||||rs2857647||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||10/15|ENST00000338641.10:c.1000-1471G>A|||||||rs2857647||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||8/14|ENST00000353887.8:c.751-1471G>A|||||||rs2857647||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||9/14|ENST00000361166.10:c.865-1471G>A|||||||rs2857647||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||9/15|ENST00000361452.8:c.877-1471G>A|||||||rs2857647||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||9/15|ENST00000361676.8:c.874-1471G>A|||||||rs2857647||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||10/16|ENST00000397789.3:c.1000-1471G>A|||||||rs2857647||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||10/16|ENST00000403435.5:c.1000-1558G>A|||||||rs2857647||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||10/15|ENST00000403999.7:c.1000-1471G>A|||||||rs2857647||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-24397G>A|||||||rs2857647||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29670355G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||5/7|ENST00000432151.5:c.522+1909G>A|||||||rs2857647||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29670355G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||10/17|ENST00000672461.1:c.1000-1471G>A|||||||rs2857647||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29670355G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||11/16|ENST00000672805.1:c.*882-1471G>A|||||||rs2857647||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||10/16|ENST00000672896.1:c.1000-1471G>A|||||||rs2857647||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29670355G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||11/16|ENST00000673312.2:c.*494-1471G>A|||||||rs2857647||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||8/14|ENST00000713935.1:c.751-1471G>A|||||||rs2857647||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||10/15|NM_000268.4:c.1000-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||11/16|NM_001407053.1:c.886-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||9/14|NM_001407054.1:c.877-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||9/14|NM_001407055.1:c.874-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||11/17|NM_001407056.1:c.886-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||9/14|NM_001407057.1:c.865-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||9/15|NM_001407058.1:c.877-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||9/15|NM_001407059.1:c.865-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||10/14|NM_001407060.1:c.1000-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||8/13|NM_001407062.1:c.742-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||8/14|NM_001407063.1:c.751-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||8/12|NM_001407064.1:c.751-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||11/17|NM_001407065.1:c.466-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||10/16|NM_001407066.1:c.1000-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||10/16|NM_001407067.1:c.769-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||10/16|NM_016418.5:c.1000-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||10/15|NM_181825.3:c.1000-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||9/15|NM_181828.3:c.874-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||9/15|NM_181829.3:c.877-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||8/14|NM_181830.3:c.751-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||8/14|NM_181831.3:c.751-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||10/16|NM_181832.3:c.1000-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-24397G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||5/7|NR_176267.1:n.888+1909G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||10/15|XM_017028809.3:c.886-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||10/16|XM_047441386.1:c.886-1471G>A|||||||rs2857647||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29670355G>A|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|-22|-4|-22|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96355;gnomADv4_1_AC_joint_XX=49764;gnomADv4_1_AC_joint_XY=46591;gnomADv4_1_AF_grpmax_joint=0.805491;gnomADv4_1_AF_joint=0.635034;gnomADv4_1_AF_joint_XX=0.64119;gnomADv4_1_AF_joint_XY=0.628589;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=151732;gnomADv4_1_AN_joint_XX=77612;gnomADv4_1_AN_joint_XY=74120;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=30789;gnomADv4_1_nhomalt_joint_XX=16032;gnomADv4_1_nhomalt_joint_XY=14757;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29670503 chr22_29670503_TTGTGTG_T;chr22_29670503_T_TTGTGTG TTGTGTG T 47 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.702;CADDIndel_Rawscore=-0.108055;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||8/14|ENST00000334961.11:c.751-1293_751-1288del|||||||rs131255||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||TGTGTG|TGTGTG||1|29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||10/15|ENST00000338641.10:c.1000-1293_1000-1288del|||||||rs131255||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||TGTGTG|TGTGTG||1|29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||8/14|ENST00000353887.8:c.751-1293_751-1288del|||||||rs131255||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||TGTGTG|TGTGTG||1|29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||9/14|ENST00000361166.10:c.865-1293_865-1288del|||||||rs131255||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||TGTGTG|TGTGTG||1|29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||9/15|ENST00000361452.8:c.877-1293_877-1288del|||||||rs131255||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||TGTGTG|TGTGTG||1|29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||9/15|ENST00000361676.8:c.874-1293_874-1288del|||||||rs131255||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||TGTGTG|TGTGTG||1|29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||10/16|ENST00000397789.3:c.1000-1293_1000-1288del|||||||rs131255||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||TGTGTG|TGTGTG||1|29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||10/16|ENST00000403435.5:c.1000-1380_1000-1375del|||||||rs131255||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||TGTGTG|TGTGTG||1|29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||10/15|ENST00000403999.7:c.1000-1293_1000-1288del|||||||rs131255||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||TGTGTG|TGTGTG||1|29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-24219_448-24214del|||||||rs131255||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||TGTGTG|TGTGTG||1|29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||5/7|ENST00000432151.5:c.522+2087_522+2092del|||||||rs131255||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||TGTGTG|TGTGTG||1|29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||10/17|ENST00000672461.1:c.1000-1293_1000-1288del|||||||rs131255||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||TGTGTG|TGTGTG||1|29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||11/16|ENST00000672805.1:c.*882-1293_*882-1288del|||||||rs131255||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||TGTGTG|TGTGTG||1|29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||10/16|ENST00000672896.1:c.1000-1293_1000-1288del|||||||rs131255||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||TGTGTG|TGTGTG||1|29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||11/16|ENST00000673312.2:c.*494-1293_*494-1288del|||||||rs131255||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||TGTGTG|TGTGTG||1|29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||8/14|ENST00000713935.1:c.751-1293_751-1288del|||||||rs131255||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||TGTGTG|TGTGTG||1|29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||10/15|NM_000268.4:c.1000-1293_1000-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||11/16|NM_001407053.1:c.886-1293_886-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||9/14|NM_001407054.1:c.877-1293_877-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||9/14|NM_001407055.1:c.874-1293_874-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||11/17|NM_001407056.1:c.886-1293_886-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||9/14|NM_001407057.1:c.865-1293_865-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||9/15|NM_001407058.1:c.877-1293_877-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||9/15|NM_001407059.1:c.865-1293_865-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||10/14|NM_001407060.1:c.1000-1293_1000-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||8/13|NM_001407062.1:c.742-1293_742-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||8/14|NM_001407063.1:c.751-1293_751-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||8/12|NM_001407064.1:c.751-1293_751-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||11/17|NM_001407065.1:c.466-1293_466-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||10/16|NM_001407066.1:c.1000-1293_1000-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||10/16|NM_001407067.1:c.769-1293_769-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||10/16|NM_016418.5:c.1000-1293_1000-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||TGTGTG|TGTGTG|OK||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||10/15|NM_181825.3:c.1000-1293_1000-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||9/15|NM_181828.3:c.874-1293_874-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||9/15|NM_181829.3:c.877-1293_877-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||8/14|NM_181830.3:c.751-1293_751-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||8/14|NM_181831.3:c.751-1293_751-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||10/16|NM_181832.3:c.1000-1293_1000-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-24219_448-24214del|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||5/7|NR_176267.1:n.888+2087_888+2092del|||||||rs131255||1||EntrezGene|HGNC:7773|||||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||10/15|XM_017028809.3:c.886-1293_886-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||10/16|XM_047441386.1:c.886-1293_886-1288del|||||||rs131255||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||TGTGTG|TGTGTG|||29|chr22:g.29670533_29670538del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45006;gnomADv4_1_AC_joint_XX=23822;gnomADv4_1_AC_joint_XY=21184;gnomADv4_1_AF_grpmax_joint=0.360221;gnomADv4_1_AF_joint=0.307658;gnomADv4_1_AF_joint_XX=0.316529;gnomADv4_1_AF_joint_XY=0.298257;gnomADv4_1_AN_grpmax_joint=66970;gnomADv4_1_AN_joint=146286;gnomADv4_1_AN_joint_XX=75260;gnomADv4_1_AN_joint_XY=71026;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6999;gnomADv4_1_nhomalt_joint_XX=3839;gnomADv4_1_nhomalt_joint_XY=3160;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29670503 chr22_29670503_TTGTGTG_T;chr22_29670503_T_TTGTGTG T TTGTGTG 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=1.112;CADDIndel_Rawscore=0.00974;CSQ=TGTGTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||8/14|ENST00000334961.11:c.751-1293_751-1288dup|||||||rs131255||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||10/15|ENST00000338641.10:c.1000-1293_1000-1288dup|||||||rs131255||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||8/14|ENST00000353887.8:c.751-1293_751-1288dup|||||||rs131255||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||9/14|ENST00000361166.10:c.865-1293_865-1288dup|||||||rs131255||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||9/15|ENST00000361452.8:c.877-1293_877-1288dup|||||||rs131255||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||9/15|ENST00000361676.8:c.874-1293_874-1288dup|||||||rs131255||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||10/16|ENST00000397789.3:c.1000-1293_1000-1288dup|||||||rs131255||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||10/16|ENST00000403435.5:c.1000-1380_1000-1375dup|||||||rs131255||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||10/15|ENST00000403999.7:c.1000-1293_1000-1288dup|||||||rs131255||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-24219_448-24214dup|||||||rs131255||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||5/7|ENST00000432151.5:c.522+2087_522+2092dup|||||||rs131255||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||10/17|ENST00000672461.1:c.1000-1293_1000-1288dup|||||||rs131255||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||11/16|ENST00000672805.1:c.*882-1293_*882-1288dup|||||||rs131255||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||10/16|ENST00000672896.1:c.1000-1293_1000-1288dup|||||||rs131255||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||11/16|ENST00000673312.2:c.*494-1293_*494-1288dup|||||||rs131255||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||8/14|ENST00000713935.1:c.751-1293_751-1288dup|||||||rs131255||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||10/15|NM_000268.4:c.1000-1293_1000-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||11/16|NM_001407053.1:c.886-1293_886-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||9/14|NM_001407054.1:c.877-1293_877-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||9/14|NM_001407055.1:c.874-1293_874-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||11/17|NM_001407056.1:c.886-1293_886-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||9/14|NM_001407057.1:c.865-1293_865-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||9/15|NM_001407058.1:c.877-1293_877-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||9/15|NM_001407059.1:c.865-1293_865-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||10/14|NM_001407060.1:c.1000-1293_1000-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||8/13|NM_001407062.1:c.742-1293_742-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||8/14|NM_001407063.1:c.751-1293_751-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||8/12|NM_001407064.1:c.751-1293_751-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||11/17|NM_001407065.1:c.466-1293_466-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||10/16|NM_001407066.1:c.1000-1293_1000-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||10/16|NM_001407067.1:c.769-1293_769-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||10/16|NM_016418.5:c.1000-1293_1000-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||10/15|NM_181825.3:c.1000-1293_1000-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||9/15|NM_181828.3:c.874-1293_874-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||9/15|NM_181829.3:c.877-1293_877-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||8/14|NM_181830.3:c.751-1293_751-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||8/14|NM_181831.3:c.751-1293_751-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||10/16|NM_181832.3:c.1000-1293_1000-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-24219_448-24214dup|||||||rs131255||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||5/7|NR_176267.1:n.888+2087_888+2092dup|||||||rs131255||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||10/15|XM_017028809.3:c.886-1293_886-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||10/16|XM_047441386.1:c.886-1293_886-1288dup|||||||rs131255||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||||||35|chr22:g.29670533_29670538dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18258;gnomADv4_1_AC_joint_XX=9388;gnomADv4_1_AC_joint_XY=8870;gnomADv4_1_AF_grpmax_joint=0.154566;gnomADv4_1_AF_joint=0.124809;gnomADv4_1_AF_joint_XX=0.124731;gnomADv4_1_AF_joint_XY=0.124891;gnomADv4_1_AN_grpmax_joint=4490;gnomADv4_1_AN_joint=146288;gnomADv4_1_AN_joint_XX=75266;gnomADv4_1_AN_joint_XY=71022;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1215;gnomADv4_1_nhomalt_joint_XX=620;gnomADv4_1_nhomalt_joint_XY=595;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29670579 chr22_29670579_C_G C G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=8.989;CADD_Rawscore=0.872733;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||8/14|ENST00000334961.11:c.751-1247C>G|||||||rs2857648||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||10/15|ENST00000338641.10:c.1000-1247C>G|||||||rs2857648||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||8/14|ENST00000353887.8:c.751-1247C>G|||||||rs2857648||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||9/14|ENST00000361166.10:c.865-1247C>G|||||||rs2857648||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||9/15|ENST00000361452.8:c.877-1247C>G|||||||rs2857648||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||9/15|ENST00000361676.8:c.874-1247C>G|||||||rs2857648||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||10/16|ENST00000397789.3:c.1000-1247C>G|||||||rs2857648||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||10/16|ENST00000403435.5:c.1000-1334C>G|||||||rs2857648||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||10/15|ENST00000403999.7:c.1000-1247C>G|||||||rs2857648||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-24173C>G|||||||rs2857648||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29670579C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||5/7|ENST00000432151.5:c.522+2133C>G|||||||rs2857648||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29670579C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||10/17|ENST00000672461.1:c.1000-1247C>G|||||||rs2857648||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29670579C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||11/16|ENST00000672805.1:c.*882-1247C>G|||||||rs2857648||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||10/16|ENST00000672896.1:c.1000-1247C>G|||||||rs2857648||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29670579C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||11/16|ENST00000673312.2:c.*494-1247C>G|||||||rs2857648||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||8/14|ENST00000713935.1:c.751-1247C>G|||||||rs2857648||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||10/15|NM_000268.4:c.1000-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||11/16|NM_001407053.1:c.886-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||9/14|NM_001407054.1:c.877-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||9/14|NM_001407055.1:c.874-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||11/17|NM_001407056.1:c.886-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||9/14|NM_001407057.1:c.865-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||9/15|NM_001407058.1:c.877-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||9/15|NM_001407059.1:c.865-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||10/14|NM_001407060.1:c.1000-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||8/13|NM_001407062.1:c.742-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||8/14|NM_001407063.1:c.751-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||8/12|NM_001407064.1:c.751-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||11/17|NM_001407065.1:c.466-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||10/16|NM_001407066.1:c.1000-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||10/16|NM_001407067.1:c.769-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||10/16|NM_016418.5:c.1000-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||10/15|NM_181825.3:c.1000-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||9/15|NM_181828.3:c.874-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||9/15|NM_181829.3:c.877-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||8/14|NM_181830.3:c.751-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||8/14|NM_181831.3:c.751-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||10/16|NM_181832.3:c.1000-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-24173C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||5/7|NR_176267.1:n.888+2133C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||10/15|XM_017028809.3:c.886-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||10/16|XM_047441386.1:c.886-1247C>G|||||||rs2857648||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29670579C>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-10|-29|38|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52494;gnomADv4_1_AC_joint_XX=27644;gnomADv4_1_AC_joint_XY=24850;gnomADv4_1_AF_grpmax_joint=0.377816;gnomADv4_1_AF_joint=0.349517;gnomADv4_1_AF_joint_XX=0.359209;gnomADv4_1_AF_joint_XY=0.339333;gnomADv4_1_AN_grpmax_joint=67742;gnomADv4_1_AN_joint=150190;gnomADv4_1_AN_joint_XX=76958;gnomADv4_1_AN_joint_XY=73232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9223;gnomADv4_1_nhomalt_joint_XX=4993;gnomADv4_1_nhomalt_joint_XY=4230;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29671261 chr22_29671261_C_T C T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.298;CADD_Rawscore=0.050238;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||8/14|ENST00000334961.11:c.751-565C>T|||||||rs2857649||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||10/15|ENST00000338641.10:c.1000-565C>T|||||||rs2857649||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||8/14|ENST00000353887.8:c.751-565C>T|||||||rs2857649||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||9/14|ENST00000361166.10:c.865-565C>T|||||||rs2857649||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||9/15|ENST00000361452.8:c.877-565C>T|||||||rs2857649||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||9/15|ENST00000361676.8:c.874-565C>T|||||||rs2857649||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||10/16|ENST00000397789.3:c.1000-565C>T|||||||rs2857649||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||10/16|ENST00000403435.5:c.1000-652C>T|||||||rs2857649||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||10/15|ENST00000403999.7:c.1000-565C>T|||||||rs2857649||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-23491C>T|||||||rs2857649||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29671261C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||5/7|ENST00000432151.5:c.522+2815C>T|||||||rs2857649||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29671261C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||10/17|ENST00000672461.1:c.1000-565C>T|||||||rs2857649||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29671261C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||11/16|ENST00000672805.1:c.*882-565C>T|||||||rs2857649||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||10/16|ENST00000672896.1:c.1000-565C>T|||||||rs2857649||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29671261C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||11/16|ENST00000673312.2:c.*494-565C>T|||||||rs2857649||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||8/14|ENST00000713935.1:c.751-565C>T|||||||rs2857649||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||10/15|NM_000268.4:c.1000-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||11/16|NM_001407053.1:c.886-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||9/14|NM_001407054.1:c.877-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||9/14|NM_001407055.1:c.874-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||11/17|NM_001407056.1:c.886-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||9/14|NM_001407057.1:c.865-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||9/15|NM_001407058.1:c.877-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||9/15|NM_001407059.1:c.865-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||10/14|NM_001407060.1:c.1000-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||8/13|NM_001407062.1:c.742-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||8/14|NM_001407063.1:c.751-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||8/12|NM_001407064.1:c.751-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||11/17|NM_001407065.1:c.466-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||10/16|NM_001407066.1:c.1000-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||10/16|NM_001407067.1:c.769-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||10/16|NM_016418.5:c.1000-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||10/15|NM_181825.3:c.1000-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||9/15|NM_181828.3:c.874-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||9/15|NM_181829.3:c.877-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||8/14|NM_181830.3:c.751-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||8/14|NM_181831.3:c.751-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||10/16|NM_181832.3:c.1000-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-23491C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||5/7|NR_176267.1:n.888+2815C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||10/15|XM_017028809.3:c.886-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||10/16|XM_047441386.1:c.886-565C>T|||||||rs2857649||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29671261C>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|-50|-6|-50|38;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61464;gnomADv4_1_AC_joint_XX=32068;gnomADv4_1_AC_joint_XY=29396;gnomADv4_1_AF_grpmax_joint=0.529118;gnomADv4_1_AF_joint=0.404448;gnomADv4_1_AF_joint_XX=0.412779;gnomADv4_1_AF_joint_XY=0.395735;gnomADv4_1_AN_grpmax_joint=41452;gnomADv4_1_AN_joint=151970;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=12918;gnomADv4_1_nhomalt_joint_XX=6873;gnomADv4_1_nhomalt_joint_XY=6045;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29672309 chr22_29672309_C_CT C CT 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=34;CADDIndel_PHREDscore=0.764;CADDIndel_Rawscore=-0.086882;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||9/14|ENST00000334961.11:c.873+381dup|||||||rs779561094||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||11/15|ENST00000338641.10:c.1122+381dup|||||||rs779561094||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||9/14|ENST00000353887.8:c.873+381dup|||||||rs779561094||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||10/14|ENST00000361166.10:c.987+381dup|||||||rs779561094||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||10/15|ENST00000361452.8:c.999+381dup|||||||rs779561094||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||10/15|ENST00000361676.8:c.996+381dup|||||||rs779561094||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||11/16|ENST00000397789.3:c.1122+381dup|||||||rs779561094||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||11/16|ENST00000403435.5:c.1035+381dup|||||||rs779561094||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||11/15|ENST00000403999.7:c.1122+381dup|||||||rs779561094||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-22423dup|||||||rs779561094||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|20|chr22:g.29672329dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||5/7|ENST00000432151.5:c.523-2507dup|||||||rs779561094||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|20|chr22:g.29672329dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||11/17|ENST00000672461.1:c.1122+381dup|||||||rs779561094||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|20|chr22:g.29672329dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||12/16|ENST00000672805.1:c.*1004+381dup|||||||rs779561094||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||11/16|ENST00000672896.1:c.1122+381dup|||||||rs779561094||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|20|chr22:g.29672329dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||12/16|ENST00000673312.2:c.*616+381dup|||||||rs779561094||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||9/14|ENST00000713935.1:c.873+381dup|||||||rs779561094||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||11/15|NM_000268.4:c.1122+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||12/16|NM_001407053.1:c.1008+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||10/14|NM_001407054.1:c.999+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||10/14|NM_001407055.1:c.996+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||12/17|NM_001407056.1:c.1008+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||10/14|NM_001407057.1:c.987+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||10/15|NM_001407058.1:c.999+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||10/15|NM_001407059.1:c.987+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||11/14|NM_001407060.1:c.1122+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||9/13|NM_001407062.1:c.864+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||9/14|NM_001407063.1:c.873+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||9/12|NM_001407064.1:c.873+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||12/17|NM_001407065.1:c.588+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||11/16|NM_001407066.1:c.1122+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||11/16|NM_001407067.1:c.891+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||11/16|NM_016418.5:c.1122+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||11/15|NM_181825.3:c.1122+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||10/15|NM_181828.3:c.996+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||10/15|NM_181829.3:c.999+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||9/14|NM_181830.3:c.873+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||9/14|NM_181831.3:c.873+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||11/16|NM_181832.3:c.1122+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-22423dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||5/7|NR_176267.1:n.889-2507dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||11/15|XM_017028809.3:c.1008+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||11/16|XM_047441386.1:c.1008+381dup|||||||rs779561094||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||||||20|chr22:g.29672329dup|||||||||||||;SpliceAI=CT|NF2|0.00|0.00|0.00|0.00|48|30|48|20;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37339;gnomADv4_1_AC_joint_XX=20559;gnomADv4_1_AC_joint_XY=16780;gnomADv4_1_AF_grpmax_joint=0.358017;gnomADv4_1_AF_joint=0.302198;gnomADv4_1_AF_joint_XX=0.315981;gnomADv4_1_AF_joint_XY=0.286867;gnomADv4_1_AN_grpmax_joint=59458;gnomADv4_1_AN_joint=123558;gnomADv4_1_AN_joint_XX=65064;gnomADv4_1_AN_joint_XY=58494;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6625;gnomADv4_1_nhomalt_joint_XX=3722;gnomADv4_1_nhomalt_joint_XY=2903;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29672642 chr22_29672642_T_A T A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.778;CADD_Rawscore=0.345534;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||9/14|ENST00000334961.11:c.874-627T>A|||||||rs5763409||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||11/15|ENST00000338641.10:c.1123-627T>A|||||||rs5763409||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||9/14|ENST00000353887.8:c.874-627T>A|||||||rs5763409||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||10/14|ENST00000361166.10:c.988-627T>A|||||||rs5763409||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||10/15|ENST00000361452.8:c.1000-627T>A|||||||rs5763409||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||10/15|ENST00000361676.8:c.997-627T>A|||||||rs5763409||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||11/16|ENST00000397789.3:c.1123-627T>A|||||||rs5763409||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||11/16|ENST00000403435.5:c.1036-627T>A|||||||rs5763409||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||11/15|ENST00000403999.7:c.1123-627T>A|||||||rs5763409||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-22110T>A|||||||rs5763409||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29672642T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||5/7|ENST00000432151.5:c.523-2194T>A|||||||rs5763409||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29672642T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||11/17|ENST00000672461.1:c.1123-627T>A|||||||rs5763409||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29672642T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||12/16|ENST00000672805.1:c.*1005-627T>A|||||||rs5763409||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||11/16|ENST00000672896.1:c.1123-627T>A|||||||rs5763409||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29672642T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||12/16|ENST00000673312.2:c.*617-627T>A|||||||rs5763409||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||9/14|ENST00000713935.1:c.874-627T>A|||||||rs5763409||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||11/15|NM_000268.4:c.1123-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||12/16|NM_001407053.1:c.1009-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||10/14|NM_001407054.1:c.1000-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||10/14|NM_001407055.1:c.997-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||12/17|NM_001407056.1:c.1009-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||10/14|NM_001407057.1:c.988-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||10/15|NM_001407058.1:c.1000-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||10/15|NM_001407059.1:c.988-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||11/14|NM_001407060.1:c.1123-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||9/13|NM_001407062.1:c.865-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||9/14|NM_001407063.1:c.874-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||9/12|NM_001407064.1:c.874-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||12/17|NM_001407065.1:c.589-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||11/16|NM_001407066.1:c.1123-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||11/16|NM_001407067.1:c.892-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||11/16|NM_016418.5:c.1123-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||11/15|NM_181825.3:c.1123-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||10/15|NM_181828.3:c.997-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||10/15|NM_181829.3:c.1000-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||9/14|NM_181830.3:c.874-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||9/14|NM_181831.3:c.874-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||11/16|NM_181832.3:c.1123-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-22110T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||5/7|NR_176267.1:n.889-2194T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||11/15|XM_017028809.3:c.1009-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||11/16|XM_047441386.1:c.1009-627T>A|||||||rs5763409||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29672642T>A|||||||||||||;SpliceAI=A|NF2|0.01|0.00|0.00|0.00|-6|20|-6|20;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44959;gnomADv4_1_AC_joint_XX=23696;gnomADv4_1_AC_joint_XY=21263;gnomADv4_1_AF_grpmax_joint=0.407895;gnomADv4_1_AF_joint=0.318637;gnomADv4_1_AF_joint_XX=0.325343;gnomADv4_1_AF_joint_XY=0.311482;gnomADv4_1_AN_grpmax_joint=228;gnomADv4_1_AN_joint=141098;gnomADv4_1_AN_joint_XX=72834;gnomADv4_1_AN_joint_XY=68264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7092;gnomADv4_1_nhomalt_joint_XX=3860;gnomADv4_1_nhomalt_joint_XY=3232;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29672779 chr22_29672779_CT_C CT C 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADDIndel_PHREDscore=0.518;CADDIndel_Rawscore=-0.184398;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||9/14|ENST00000334961.11:c.874-478del|||||||rs35006066||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1|11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||11/15|ENST00000338641.10:c.1123-478del|||||||rs35006066||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1|11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||9/14|ENST00000353887.8:c.874-478del|||||||rs35006066||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1|11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||10/14|ENST00000361166.10:c.988-478del|||||||rs35006066||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1|11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||10/15|ENST00000361452.8:c.1000-478del|||||||rs35006066||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1|11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||10/15|ENST00000361676.8:c.997-478del|||||||rs35006066||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1|11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||11/16|ENST00000397789.3:c.1123-478del|||||||rs35006066||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||11/16|ENST00000403435.5:c.1036-478del|||||||rs35006066||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1|11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||11/15|ENST00000403999.7:c.1123-478del|||||||rs35006066||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-21961del|||||||rs35006066||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1|11|chr22:g.29672791del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||5/7|ENST00000432151.5:c.523-2045del|||||||rs35006066||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1|11|chr22:g.29672791del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||11/17|ENST00000672461.1:c.1123-478del|||||||rs35006066||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|11|chr22:g.29672791del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||12/16|ENST00000672805.1:c.*1005-478del|||||||rs35006066||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1|11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||11/16|ENST00000672896.1:c.1123-478del|||||||rs35006066||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|11|chr22:g.29672791del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||12/16|ENST00000673312.2:c.*617-478del|||||||rs35006066||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1|11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||9/14|ENST00000713935.1:c.874-478del|||||||rs35006066||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1|11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||11/15|NM_000268.4:c.1123-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||12/16|NM_001407053.1:c.1009-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||10/14|NM_001407054.1:c.1000-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||10/14|NM_001407055.1:c.997-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||12/17|NM_001407056.1:c.1009-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||10/14|NM_001407057.1:c.988-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||10/15|NM_001407058.1:c.1000-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||10/15|NM_001407059.1:c.988-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||11/14|NM_001407060.1:c.1123-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||9/13|NM_001407062.1:c.865-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||9/14|NM_001407063.1:c.874-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||9/12|NM_001407064.1:c.874-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||12/17|NM_001407065.1:c.589-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||11/16|NM_001407066.1:c.1123-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||11/16|NM_001407067.1:c.892-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||11/16|NM_016418.5:c.1123-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||11/15|NM_181825.3:c.1123-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||10/15|NM_181828.3:c.997-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||10/15|NM_181829.3:c.1000-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||9/14|NM_181830.3:c.874-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||9/14|NM_181831.3:c.874-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||11/16|NM_181832.3:c.1123-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-21961del|||||||rs35006066||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||5/7|NR_176267.1:n.889-2045del|||||||rs35006066||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||11/15|XM_017028809.3:c.1009-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||11/16|XM_047441386.1:c.1009-478del|||||||rs35006066||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T|||11|chr22:g.29672791del|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|26|23|12|-21;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47865;gnomADv4_1_AC_joint_XX=25306;gnomADv4_1_AC_joint_XY=22559;gnomADv4_1_AF_grpmax_joint=0.399184;gnomADv4_1_AF_joint=0.327649;gnomADv4_1_AF_joint_XX=0.336337;gnomADv4_1_AF_joint_XY=0.318423;gnomADv4_1_AN_grpmax_joint=66388;gnomADv4_1_AN_joint=146086;gnomADv4_1_AN_joint_XX=75240;gnomADv4_1_AN_joint_XY=70846;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8064;gnomADv4_1_nhomalt_joint_XX=4425;gnomADv4_1_nhomalt_joint_XY=3639;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29672781 chr22_29672781_T_G T G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.59;CADD_Rawscore=-0.151926;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||9/14|ENST00000334961.11:c.874-488T>G|||||||rs8135737||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||11/15|ENST00000338641.10:c.1123-488T>G|||||||rs8135737||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||9/14|ENST00000353887.8:c.874-488T>G|||||||rs8135737||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||10/14|ENST00000361166.10:c.988-488T>G|||||||rs8135737||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||10/15|ENST00000361452.8:c.1000-488T>G|||||||rs8135737||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||10/15|ENST00000361676.8:c.997-488T>G|||||||rs8135737||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||11/16|ENST00000397789.3:c.1123-488T>G|||||||rs8135737||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||11/16|ENST00000403435.5:c.1036-488T>G|||||||rs8135737||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||11/15|ENST00000403999.7:c.1123-488T>G|||||||rs8135737||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-21971T>G|||||||rs8135737||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29672781T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||5/7|ENST00000432151.5:c.523-2055T>G|||||||rs8135737||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29672781T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||11/17|ENST00000672461.1:c.1123-488T>G|||||||rs8135737||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29672781T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||12/16|ENST00000672805.1:c.*1005-488T>G|||||||rs8135737||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||11/16|ENST00000672896.1:c.1123-488T>G|||||||rs8135737||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29672781T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||12/16|ENST00000673312.2:c.*617-488T>G|||||||rs8135737||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||9/14|ENST00000713935.1:c.874-488T>G|||||||rs8135737||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||11/15|NM_000268.4:c.1123-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||12/16|NM_001407053.1:c.1009-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||10/14|NM_001407054.1:c.1000-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||10/14|NM_001407055.1:c.997-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||12/17|NM_001407056.1:c.1009-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||10/14|NM_001407057.1:c.988-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||10/15|NM_001407058.1:c.1000-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||10/15|NM_001407059.1:c.988-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||11/14|NM_001407060.1:c.1123-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||9/13|NM_001407062.1:c.865-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||9/14|NM_001407063.1:c.874-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||9/12|NM_001407064.1:c.874-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||12/17|NM_001407065.1:c.589-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||11/16|NM_001407066.1:c.1123-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||11/16|NM_001407067.1:c.892-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||11/16|NM_016418.5:c.1123-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||11/15|NM_181825.3:c.1123-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||10/15|NM_181828.3:c.997-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||10/15|NM_181829.3:c.1000-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||9/14|NM_181830.3:c.874-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||9/14|NM_181831.3:c.874-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||11/16|NM_181832.3:c.1123-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-21971T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||5/7|NR_176267.1:n.889-2055T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||11/15|XM_017028809.3:c.1009-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||11/16|XM_047441386.1:c.1009-488T>G|||||||rs8135737||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29672781T>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|46|-23|10|-23;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21240;gnomADv4_1_AC_joint_XX=10831;gnomADv4_1_AC_joint_XY=10409;gnomADv4_1_AF_grpmax_joint=0.277325;gnomADv4_1_AF_joint=0.260844;gnomADv4_1_AF_joint_XX=0.263579;gnomADv4_1_AF_joint_XY=0.258057;gnomADv4_1_AN_grpmax_joint=28252;gnomADv4_1_AN_joint=81428;gnomADv4_1_AN_joint_XX=41092;gnomADv4_1_AN_joint_XY=40336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1619;gnomADv4_1_nhomalt_joint_XX=823;gnomADv4_1_nhomalt_joint_XY=796;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29672862 chr22_29672862_T_C T C 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.239;CADD_Rawscore=-0.380313;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||9/14|ENST00000334961.11:c.874-407T>C|||||||rs2860417||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||11/15|ENST00000338641.10:c.1123-407T>C|||||||rs2860417||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||9/14|ENST00000353887.8:c.874-407T>C|||||||rs2860417||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||10/14|ENST00000361166.10:c.988-407T>C|||||||rs2860417||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||10/15|ENST00000361452.8:c.1000-407T>C|||||||rs2860417||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||10/15|ENST00000361676.8:c.997-407T>C|||||||rs2860417||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||11/16|ENST00000397789.3:c.1123-407T>C|||||||rs2860417||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||11/16|ENST00000403435.5:c.1036-407T>C|||||||rs2860417||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||11/15|ENST00000403999.7:c.1123-407T>C|||||||rs2860417||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-21890T>C|||||||rs2860417||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29672862T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||5/7|ENST00000432151.5:c.523-1974T>C|||||||rs2860417||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29672862T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||11/17|ENST00000672461.1:c.1123-407T>C|||||||rs2860417||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29672862T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||12/16|ENST00000672805.1:c.*1005-407T>C|||||||rs2860417||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||11/16|ENST00000672896.1:c.1123-407T>C|||||||rs2860417||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29672862T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||12/16|ENST00000673312.2:c.*617-407T>C|||||||rs2860417||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||9/14|ENST00000713935.1:c.874-407T>C|||||||rs2860417||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||11/15|NM_000268.4:c.1123-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||12/16|NM_001407053.1:c.1009-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||10/14|NM_001407054.1:c.1000-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||10/14|NM_001407055.1:c.997-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||12/17|NM_001407056.1:c.1009-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||10/14|NM_001407057.1:c.988-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||10/15|NM_001407058.1:c.1000-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||10/15|NM_001407059.1:c.988-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||11/14|NM_001407060.1:c.1123-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||9/13|NM_001407062.1:c.865-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||9/14|NM_001407063.1:c.874-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||9/12|NM_001407064.1:c.874-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||12/17|NM_001407065.1:c.589-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||11/16|NM_001407066.1:c.1123-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||11/16|NM_001407067.1:c.892-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||11/16|NM_016418.5:c.1123-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||11/15|NM_181825.3:c.1123-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||10/15|NM_181828.3:c.997-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||10/15|NM_181829.3:c.1000-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||9/14|NM_181830.3:c.874-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||9/14|NM_181831.3:c.874-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||11/16|NM_181832.3:c.1123-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-21890T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||5/7|NR_176267.1:n.889-1974T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||11/15|XM_017028809.3:c.1009-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||11/16|XM_047441386.1:c.1009-407T>C|||||||rs2860417||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29672862T>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-6|12|37|-7;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111217;gnomADv4_1_AC_joint_XX=57449;gnomADv4_1_AC_joint_XY=53768;gnomADv4_1_AF_grpmax_joint=0.90754;gnomADv4_1_AF_joint=0.736917;gnomADv4_1_AF_joint_XX=0.743445;gnomADv4_1_AF_joint_XY=0.730067;gnomADv4_1_AN_grpmax_joint=5040;gnomADv4_1_AN_joint=150922;gnomADv4_1_AN_joint_XX=77274;gnomADv4_1_AN_joint_XY=73648;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41815;gnomADv4_1_nhomalt_joint_XX=21751;gnomADv4_1_nhomalt_joint_XY=20064;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29674234 chr22_29674234_T_A T A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.109;CADD_Rawscore=-0.589468;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||10/14|ENST00000334961.11:c.1092-602T>A|||||||rs731647||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||12/15|ENST00000338641.10:c.1341-602T>A|||||||rs731647||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||10/14|ENST00000353887.8:c.1092-602T>A|||||||rs731647||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||11/14|ENST00000361166.10:c.1206-602T>A|||||||rs731647||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||11/15|ENST00000361452.8:c.1218-602T>A|||||||rs731647||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||11/15|ENST00000361676.8:c.1215-602T>A|||||||rs731647||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||12/16|ENST00000397789.3:c.1341-602T>A|||||||rs731647||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||12/16|ENST00000403435.5:c.1254-602T>A|||||||rs731647||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||12/15|ENST00000403999.7:c.1341-602T>A|||||||rs731647||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-20518T>A|||||||rs731647||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29674234T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||5/7|ENST00000432151.5:c.523-602T>A|||||||rs731647||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29674234T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||12/17|ENST00000672461.1:c.1341-602T>A|||||||rs731647||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29674234T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||13/16|ENST00000672805.1:c.*1223-602T>A|||||||rs731647||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||12/16|ENST00000672896.1:c.1341-602T>A|||||||rs731647||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29674234T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||13/16|ENST00000673312.2:c.*835-602T>A|||||||rs731647||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||10/14|ENST00000713935.1:c.1092-602T>A|||||||rs731647||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||12/15|NM_000268.4:c.1341-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||13/16|NM_001407053.1:c.1227-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||11/14|NM_001407054.1:c.1218-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||11/14|NM_001407055.1:c.1215-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||13/17|NM_001407056.1:c.1227-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||11/14|NM_001407057.1:c.1206-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||11/15|NM_001407058.1:c.1218-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||11/15|NM_001407059.1:c.1206-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||12/14|NM_001407060.1:c.1341-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||10/13|NM_001407062.1:c.1083-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||10/14|NM_001407063.1:c.1092-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||10/12|NM_001407064.1:c.1092-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||13/17|NM_001407065.1:c.807-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||12/16|NM_001407066.1:c.1341-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||12/16|NM_001407067.1:c.1110-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||12/16|NM_016418.5:c.1341-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||12/15|NM_181825.3:c.1341-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||11/15|NM_181828.3:c.1215-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||11/15|NM_181829.3:c.1218-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||10/14|NM_181830.3:c.1092-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||10/14|NM_181831.3:c.1092-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||12/16|NM_181832.3:c.1341-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-20518T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||5/7|NR_176267.1:n.889-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||12/15|XM_017028809.3:c.1227-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||12/16|XM_047441386.1:c.1227-602T>A|||||||rs731647||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29674234T>A|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|2|29|-5|28;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111215;gnomADv4_1_AC_joint_XX=57350;gnomADv4_1_AC_joint_XY=53865;gnomADv4_1_AF_grpmax_joint=0.910445;gnomADv4_1_AF_joint=0.73111;gnomADv4_1_AF_joint_XX=0.73745;gnomADv4_1_AF_joint_XY=0.724479;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41510;gnomADv4_1_nhomalt_joint_XX=21547;gnomADv4_1_nhomalt_joint_XY=19963;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29675369 chr22_29675369_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=11.31;CADD_Rawscore=1.0932;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||11/14|ENST00000334961.11:c.1197+428C>T|||||||rs16987914||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||13/15|ENST00000338641.10:c.1446+428C>T|||||||rs16987914||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||11/14|ENST00000353887.8:c.1197+428C>T|||||||rs16987914||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||12/14|ENST00000361166.10:c.1311+428C>T|||||||rs16987914||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||12/15|ENST00000361452.8:c.1323+428C>T|||||||rs16987914||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||12/15|ENST00000361676.8:c.1320+428C>T|||||||rs16987914||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||13/16|ENST00000397789.3:c.1446+428C>T|||||||rs16987914||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||13/16|ENST00000403435.5:c.1359+428C>T|||||||rs16987914||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||13/15|ENST00000403999.7:c.1446+428C>T|||||||rs16987914||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-19383C>T|||||||rs16987914||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29675369C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||6/7|ENST00000432151.5:c.628+428C>T|||||||rs16987914||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29675369C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||13/17|ENST00000672461.1:c.1446+428C>T|||||||rs16987914||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29675369C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||14/16|ENST00000672805.1:c.*1328+428C>T|||||||rs16987914||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||13/16|ENST00000672896.1:c.1446+428C>T|||||||rs16987914||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29675369C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||14/16|ENST00000673312.2:c.*940+428C>T|||||||rs16987914||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||11/14|ENST00000713935.1:c.1197+428C>T|||||||rs16987914||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||13/15|NM_000268.4:c.1446+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||14/16|NM_001407053.1:c.1332+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||12/14|NM_001407054.1:c.1323+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||12/14|NM_001407055.1:c.1320+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||14/17|NM_001407056.1:c.1332+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||12/14|NM_001407057.1:c.1311+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||12/15|NM_001407058.1:c.1323+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||12/15|NM_001407059.1:c.1311+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||13/14|NM_001407060.1:c.1446+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||11/13|NM_001407062.1:c.1188+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||11/14|NM_001407063.1:c.1197+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||11/12|NM_001407064.1:c.1197+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||14/17|NM_001407065.1:c.912+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||13/16|NM_001407066.1:c.1446+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||13/16|NM_001407067.1:c.1215+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||13/16|NM_016418.5:c.1446+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||13/15|NM_181825.3:c.1446+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||12/15|NM_181828.3:c.1320+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||12/15|NM_181829.3:c.1323+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||11/14|NM_181830.3:c.1197+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||11/14|NM_181831.3:c.1197+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||13/16|NM_181832.3:c.1446+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-19383C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||6/7|NR_176267.1:n.994+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||13/15|XM_017028809.3:c.1332+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||13/16|XM_047441386.1:c.1332+428C>T|||||||rs16987914||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29675369C>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|49|-43|-2|30;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34905;gnomADv4_1_AC_joint_XX=17560;gnomADv4_1_AC_joint_XY=17345;gnomADv4_1_AF_grpmax_joint=0.439582;gnomADv4_1_AF_joint=0.229569;gnomADv4_1_AF_joint_XX=0.225881;gnomADv4_1_AF_joint_XY=0.233427;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4297;gnomADv4_1_nhomalt_joint_XX=2165;gnomADv4_1_nhomalt_joint_XY=2132;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29675477 chr22_29675477_A_AT A AT 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=3.854;CADDIndel_Rawscore=0.352249;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||11/14|ENST00000334961.11:c.1197+549dup|||||||rs111997472||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||13/15|ENST00000338641.10:c.1446+549dup|||||||rs111997472||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||11/14|ENST00000353887.8:c.1197+549dup|||||||rs111997472||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||12/14|ENST00000361166.10:c.1311+549dup|||||||rs111997472||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||12/15|ENST00000361452.8:c.1323+549dup|||||||rs111997472||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||12/15|ENST00000361676.8:c.1320+549dup|||||||rs111997472||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||13/16|ENST00000397789.3:c.1446+549dup|||||||rs111997472||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||13/16|ENST00000403435.5:c.1359+549dup|||||||rs111997472||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||13/15|ENST00000403999.7:c.1446+549dup|||||||rs111997472||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-19262dup|||||||rs111997472||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|13|chr22:g.29675490dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||6/7|ENST00000432151.5:c.628+549dup|||||||rs111997472||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|13|chr22:g.29675490dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||13/17|ENST00000672461.1:c.1446+549dup|||||||rs111997472||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|13|chr22:g.29675490dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||14/16|ENST00000672805.1:c.*1328+549dup|||||||rs111997472||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||13/16|ENST00000672896.1:c.1446+549dup|||||||rs111997472||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|13|chr22:g.29675490dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||14/16|ENST00000673312.2:c.*940+549dup|||||||rs111997472||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||11/14|ENST00000713935.1:c.1197+549dup|||||||rs111997472||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||13/15|NM_000268.4:c.1446+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||14/16|NM_001407053.1:c.1332+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||12/14|NM_001407054.1:c.1323+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||12/14|NM_001407055.1:c.1320+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||14/17|NM_001407056.1:c.1332+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||12/14|NM_001407057.1:c.1311+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||12/15|NM_001407058.1:c.1323+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||12/15|NM_001407059.1:c.1311+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||13/14|NM_001407060.1:c.1446+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||11/13|NM_001407062.1:c.1188+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||11/14|NM_001407063.1:c.1197+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||11/12|NM_001407064.1:c.1197+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||14/17|NM_001407065.1:c.912+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||13/16|NM_001407066.1:c.1446+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||13/16|NM_001407067.1:c.1215+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||13/16|NM_016418.5:c.1446+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||13/15|NM_181825.3:c.1446+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||12/15|NM_181828.3:c.1320+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||12/15|NM_181829.3:c.1323+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||11/14|NM_181830.3:c.1197+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||11/14|NM_181831.3:c.1197+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||13/16|NM_181832.3:c.1446+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-19262dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||6/7|NR_176267.1:n.994+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||13/15|XM_017028809.3:c.1332+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||13/16|XM_047441386.1:c.1332+549dup|||||||rs111997472||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||||||13|chr22:g.29675490dup|||||||||||||;SpliceAI=AT|NF2|0.00|0.00|0.00|0.00|27|19|27|-8;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28480;gnomADv4_1_AC_joint_XX=15128;gnomADv4_1_AC_joint_XY=13352;gnomADv4_1_AF_grpmax_joint=0.2716;gnomADv4_1_AF_joint=0.196927;gnomADv4_1_AF_joint_XX=0.203219;gnomADv4_1_AF_joint_XY=0.190254;gnomADv4_1_AN_grpmax_joint=65810;gnomADv4_1_AN_joint=144622;gnomADv4_1_AN_joint_XX=74442;gnomADv4_1_AN_joint_XY=70180;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3340;gnomADv4_1_nhomalt_joint_XX=1830;gnomADv4_1_nhomalt_joint_XY=1510;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29675814 chr22_29675814_G_GAC G GAC 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.583;CADDIndel_Rawscore=-0.154757;CSQ=AC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||11/14|ENST00000334961.11:c.1197+880_1197+881dup|||||||rs3838153||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||13/15|ENST00000338641.10:c.1446+880_1446+881dup|||||||rs3838153||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||11/14|ENST00000353887.8:c.1197+880_1197+881dup|||||||rs3838153||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||12/14|ENST00000361166.10:c.1311+880_1311+881dup|||||||rs3838153||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||12/15|ENST00000361452.8:c.1323+880_1323+881dup|||||||rs3838153||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||12/15|ENST00000361676.8:c.1320+880_1320+881dup|||||||rs3838153||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||13/16|ENST00000397789.3:c.1446+880_1446+881dup|||||||rs3838153||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||13/16|ENST00000403435.5:c.1359+880_1359+881dup|||||||rs3838153||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||13/15|ENST00000403999.7:c.1446+880_1446+881dup|||||||rs3838153||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-18931_448-18930dup|||||||rs3838153||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||6/7|ENST00000432151.5:c.628+880_628+881dup|||||||rs3838153||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||13/17|ENST00000672461.1:c.1446+880_1446+881dup|||||||rs3838153||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||14/16|ENST00000672805.1:c.*1328+880_*1328+881dup|||||||rs3838153||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||13/16|ENST00000672896.1:c.1446+880_1446+881dup|||||||rs3838153||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||14/16|ENST00000673312.2:c.*940+880_*940+881dup|||||||rs3838153||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||11/14|ENST00000713935.1:c.1197+880_1197+881dup|||||||rs3838153||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||13/15|NM_000268.4:c.1446+880_1446+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||14/16|NM_001407053.1:c.1332+880_1332+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||12/14|NM_001407054.1:c.1323+880_1323+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||12/14|NM_001407055.1:c.1320+880_1320+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||14/17|NM_001407056.1:c.1332+880_1332+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||12/14|NM_001407057.1:c.1311+880_1311+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||12/15|NM_001407058.1:c.1323+880_1323+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||12/15|NM_001407059.1:c.1311+880_1311+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||13/14|NM_001407060.1:c.1446+880_1446+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||11/13|NM_001407062.1:c.1188+880_1188+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||11/14|NM_001407063.1:c.1197+880_1197+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||11/12|NM_001407064.1:c.1197+880_1197+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||14/17|NM_001407065.1:c.912+880_912+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||13/16|NM_001407066.1:c.1446+880_1446+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||13/16|NM_001407067.1:c.1215+880_1215+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||13/16|NM_016418.5:c.1446+880_1446+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||13/15|NM_181825.3:c.1446+880_1446+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||12/15|NM_181828.3:c.1320+880_1320+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||12/15|NM_181829.3:c.1323+880_1323+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||11/14|NM_181830.3:c.1197+880_1197+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||11/14|NM_181831.3:c.1197+880_1197+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||13/16|NM_181832.3:c.1446+880_1446+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-18931_448-18930dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||6/7|NR_176267.1:n.994+880_994+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||13/15|XM_017028809.3:c.1332+880_1332+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||,AC|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||13/16|XM_047441386.1:c.1332+880_1332+881dup|||||||rs3838153||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||||||8|chr22:g.29675821_29675822dup|||||||||||||;TYPE=INDEL;VEP_Allele=AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45960;gnomADv4_1_AC_joint_XX=24117;gnomADv4_1_AC_joint_XY=21843;gnomADv4_1_AF_grpmax_joint=0.36452;gnomADv4_1_AF_joint=0.30256;gnomADv4_1_AF_joint_XX=0.310562;gnomADv4_1_AF_joint_XY=0.29419;gnomADv4_1_AN_grpmax_joint=67914;gnomADv4_1_AN_joint=151904;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7308;gnomADv4_1_nhomalt_joint_XX=3955;gnomADv4_1_nhomalt_joint_XY=3353;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29676770 chr22_29676770_T_C T C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=6.918;CADD_Rawscore=0.649262;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||11/14|ENST00000334961.11:c.1198-1426T>C|||||||rs737787||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||13/15|ENST00000338641.10:c.1447-1426T>C|||||||rs737787||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||11/14|ENST00000353887.8:c.1198-1426T>C|||||||rs737787||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||12/14|ENST00000361166.10:c.1312-1426T>C|||||||rs737787||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||12/15|ENST00000361452.8:c.1324-1426T>C|||||||rs737787||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||12/15|ENST00000361676.8:c.1321-1426T>C|||||||rs737787||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||13/16|ENST00000397789.3:c.1447-1426T>C|||||||rs737787||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||13/16|ENST00000403435.5:c.1360-1426T>C|||||||rs737787||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||13/15|ENST00000403999.7:c.1447-1426T>C|||||||rs737787||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-17982T>C|||||||rs737787||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29676770T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||6/7|ENST00000432151.5:c.629-1426T>C|||||||rs737787||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29676770T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||13/17|ENST00000672461.1:c.1447-1426T>C|||||||rs737787||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29676770T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||14/16|ENST00000672805.1:c.*1329-1426T>C|||||||rs737787||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||13/16|ENST00000672896.1:c.1447-1426T>C|||||||rs737787||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29676770T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||14/16|ENST00000673312.2:c.*941-1426T>C|||||||rs737787||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||11/14|ENST00000713935.1:c.1198-1426T>C|||||||rs737787||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||13/15|NM_000268.4:c.1447-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||14/16|NM_001407053.1:c.1333-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||12/14|NM_001407054.1:c.1324-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||12/14|NM_001407055.1:c.1321-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||14/17|NM_001407056.1:c.1333-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||12/14|NM_001407057.1:c.1312-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||12/15|NM_001407058.1:c.1324-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||12/15|NM_001407059.1:c.1312-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||13/14|NM_001407060.1:c.1447-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||11/13|NM_001407062.1:c.1189-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||11/14|NM_001407063.1:c.1198-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||11/12|NM_001407064.1:c.1198-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||14/17|NM_001407065.1:c.913-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||13/16|NM_001407066.1:c.1447-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||13/16|NM_001407067.1:c.1216-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||13/16|NM_016418.5:c.1447-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||13/15|NM_181825.3:c.1447-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||12/15|NM_181828.3:c.1321-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||12/15|NM_181829.3:c.1324-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||11/14|NM_181830.3:c.1198-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||11/14|NM_181831.3:c.1198-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||13/16|NM_181832.3:c.1447-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-17982T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||6/7|NR_176267.1:n.995-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||13/15|XM_017028809.3:c.1333-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||13/16|XM_047441386.1:c.1333-1426T>C|||||||rs737787||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29676770T>C|||1||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-33|-38|-50|-38;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23252;gnomADv4_1_AC_joint_XX=12257;gnomADv4_1_AC_joint_XY=10995;gnomADv4_1_AF_grpmax_joint=0.18379;gnomADv4_1_AF_joint=0.152781;gnomADv4_1_AF_joint_XX=0.15759;gnomADv4_1_AF_joint_XY=0.147754;gnomADv4_1_AN_grpmax_joint=67996;gnomADv4_1_AN_joint=152192;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1820;gnomADv4_1_nhomalt_joint_XX=1010;gnomADv4_1_nhomalt_joint_XY=810;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29676948 chr22_29676948_C_CCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT C CCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT 28 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=28;CSQ=CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||11/14|ENST00000334961.11:c.1198-1239_1198-1188dup|||||||rs1556002023||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||13/15|ENST00000338641.10:c.1447-1239_1447-1188dup|||||||rs1556002023||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||11/14|ENST00000353887.8:c.1198-1239_1198-1188dup|||||||rs1556002023||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||12/14|ENST00000361166.10:c.1312-1239_1312-1188dup|||||||rs1556002023||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||12/15|ENST00000361452.8:c.1324-1239_1324-1188dup|||||||rs1556002023||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||12/15|ENST00000361676.8:c.1321-1239_1321-1188dup|||||||rs1556002023||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||13/16|ENST00000397789.3:c.1447-1239_1447-1188dup|||||||rs1556002023||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||13/16|ENST00000403435.5:c.1360-1239_1360-1188dup|||||||rs1556002023||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||13/15|ENST00000403999.7:c.1447-1239_1447-1188dup|||||||rs1556002023||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-17795_448-17744dup|||||||rs1556002023||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||6/7|ENST00000432151.5:c.629-1239_629-1188dup|||||||rs1556002023||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||13/17|ENST00000672461.1:c.1447-1239_1447-1188dup|||||||rs1556002023||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||14/16|ENST00000672805.1:c.*1329-1239_*1329-1188dup|||||||rs1556002023||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||13/16|ENST00000672896.1:c.1447-1239_1447-1188dup|||||||rs1556002023||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||14/16|ENST00000673312.2:c.*941-1239_*941-1188dup|||||||rs1556002023||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||11/14|ENST00000713935.1:c.1198-1239_1198-1188dup|||||||rs1556002023||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||13/15|NM_000268.4:c.1447-1239_1447-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||14/16|NM_001407053.1:c.1333-1239_1333-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||12/14|NM_001407054.1:c.1324-1239_1324-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||12/14|NM_001407055.1:c.1321-1239_1321-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||14/17|NM_001407056.1:c.1333-1239_1333-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||12/14|NM_001407057.1:c.1312-1239_1312-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||12/15|NM_001407058.1:c.1324-1239_1324-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||12/15|NM_001407059.1:c.1312-1239_1312-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||13/14|NM_001407060.1:c.1447-1239_1447-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||11/13|NM_001407062.1:c.1189-1239_1189-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||11/14|NM_001407063.1:c.1198-1239_1198-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||11/12|NM_001407064.1:c.1198-1239_1198-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||14/17|NM_001407065.1:c.913-1239_913-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||13/16|NM_001407066.1:c.1447-1239_1447-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||13/16|NM_001407067.1:c.1216-1239_1216-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||13/16|NM_016418.5:c.1447-1239_1447-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||13/15|NM_181825.3:c.1447-1239_1447-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||12/15|NM_181828.3:c.1321-1239_1321-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||12/15|NM_181829.3:c.1324-1239_1324-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||11/14|NM_181830.3:c.1198-1239_1198-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||11/14|NM_181831.3:c.1198-1239_1198-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||13/16|NM_181832.3:c.1447-1239_1447-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-17795_448-17744dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||6/7|NR_176267.1:n.995-1239_995-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||13/15|XM_017028809.3:c.1333-1239_1333-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||13/16|XM_047441386.1:c.1333-1239_1333-1188dup|||||||rs1556002023||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||||||60|chr22:g.29676999_29677000insTCAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTC|||||||||||||;TYPE=INDEL;VEP_Allele=CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT,CAGCACCCAGATCAGAAAACAGGACATCCCTGGCACCCAAGGAGCCTTCTCT;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13246;gnomADv4_1_AC_joint_XX=6684;gnomADv4_1_AC_joint_XY=6562;gnomADv4_1_AF_grpmax_joint=0.147161;gnomADv4_1_AF_joint=0.0882855;gnomADv4_1_AF_joint_XX=0.0869701;gnomADv4_1_AF_joint_XY=0.0896669;gnomADv4_1_AN_grpmax_joint=4614;gnomADv4_1_AN_joint=150036;gnomADv4_1_AN_joint_XX=76854;gnomADv4_1_AN_joint_XY=73182;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=778;gnomADv4_1_nhomalt_joint_XX=391;gnomADv4_1_nhomalt_joint_XY=387;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29677580 chr22_29677580_C_A C A 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.36;CADD_Rawscore=-0.27556;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||11/14|ENST00000334961.11:c.1198-616C>A|||||||rs2348688||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||13/15|ENST00000338641.10:c.1447-616C>A|||||||rs2348688||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||11/14|ENST00000353887.8:c.1198-616C>A|||||||rs2348688||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||12/14|ENST00000361166.10:c.1312-616C>A|||||||rs2348688||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||12/15|ENST00000361452.8:c.1324-616C>A|||||||rs2348688||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||12/15|ENST00000361676.8:c.1321-616C>A|||||||rs2348688||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||13/16|ENST00000397789.3:c.1447-616C>A|||||||rs2348688||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||13/16|ENST00000403435.5:c.1360-616C>A|||||||rs2348688||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||13/15|ENST00000403999.7:c.1447-616C>A|||||||rs2348688||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-17172C>A|||||||rs2348688||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29677580C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||6/7|ENST00000432151.5:c.629-616C>A|||||||rs2348688||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29677580C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||13/17|ENST00000672461.1:c.1447-616C>A|||||||rs2348688||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29677580C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||14/16|ENST00000672805.1:c.*1329-616C>A|||||||rs2348688||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||13/16|ENST00000672896.1:c.1447-616C>A|||||||rs2348688||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29677580C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||14/16|ENST00000673312.2:c.*941-616C>A|||||||rs2348688||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||11/14|ENST00000713935.1:c.1198-616C>A|||||||rs2348688||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||13/15|NM_000268.4:c.1447-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||14/16|NM_001407053.1:c.1333-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||12/14|NM_001407054.1:c.1324-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||12/14|NM_001407055.1:c.1321-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||14/17|NM_001407056.1:c.1333-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||12/14|NM_001407057.1:c.1312-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||12/15|NM_001407058.1:c.1324-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||12/15|NM_001407059.1:c.1312-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||13/14|NM_001407060.1:c.1447-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||11/13|NM_001407062.1:c.1189-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||11/14|NM_001407063.1:c.1198-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||11/12|NM_001407064.1:c.1198-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||14/17|NM_001407065.1:c.913-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||13/16|NM_001407066.1:c.1447-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||13/16|NM_001407067.1:c.1216-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||13/16|NM_016418.5:c.1447-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||13/15|NM_181825.3:c.1447-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||12/15|NM_181828.3:c.1321-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||12/15|NM_181829.3:c.1324-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||11/14|NM_181830.3:c.1198-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||11/14|NM_181831.3:c.1198-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||13/16|NM_181832.3:c.1447-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-17172C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||6/7|NR_176267.1:n.995-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||13/15|XM_017028809.3:c.1333-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||13/16|XM_047441386.1:c.1333-616C>A|||||||rs2348688||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29677580C>A|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|2|-45|1|18;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111536;gnomADv4_1_AC_joint_XX=57527;gnomADv4_1_AC_joint_XY=54009;gnomADv4_1_AF_grpmax_joint=0.910797;gnomADv4_1_AF_joint=0.735464;gnomADv4_1_AF_joint_XX=0.741595;gnomADv4_1_AF_joint_XY=0.729043;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=151654;gnomADv4_1_AN_joint_XX=77572;gnomADv4_1_AN_joint_XY=74082;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41842;gnomADv4_1_nhomalt_joint_XX=21727;gnomADv4_1_nhomalt_joint_XY=20115;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29677583 chr22_29677583_TGG_T TGG T 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=1.157;CADDIndel_Rawscore=0.020034;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||11/14|ENST00000334961.11:c.1198-610_1198-609del|||||||rs35161712||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||GG|GG||1|2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||13/15|ENST00000338641.10:c.1447-610_1447-609del|||||||rs35161712||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||GG|GG||1|2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||11/14|ENST00000353887.8:c.1198-610_1198-609del|||||||rs35161712||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||GG|GG||1|2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||12/14|ENST00000361166.10:c.1312-610_1312-609del|||||||rs35161712||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||GG|GG||1|2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||12/15|ENST00000361452.8:c.1324-610_1324-609del|||||||rs35161712||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||GG|GG||1|2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||12/15|ENST00000361676.8:c.1321-610_1321-609del|||||||rs35161712||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||GG|GG||1|2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||13/16|ENST00000397789.3:c.1447-610_1447-609del|||||||rs35161712||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||GG|GG||1|2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||13/16|ENST00000403435.5:c.1360-610_1360-609del|||||||rs35161712||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||GG|GG||1|2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||13/15|ENST00000403999.7:c.1447-610_1447-609del|||||||rs35161712||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||GG|GG||1|2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-17166_448-17165del|||||||rs35161712||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||GG|GG||1|2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||6/7|ENST00000432151.5:c.629-610_629-609del|||||||rs35161712||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||GG|GG||1|2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||13/17|ENST00000672461.1:c.1447-610_1447-609del|||||||rs35161712||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||GG|GG||1|2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||14/16|ENST00000672805.1:c.*1329-610_*1329-609del|||||||rs35161712||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||GG|GG||1|2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||13/16|ENST00000672896.1:c.1447-610_1447-609del|||||||rs35161712||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||GG|GG||1|2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||14/16|ENST00000673312.2:c.*941-610_*941-609del|||||||rs35161712||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||GG|GG||1|2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||11/14|ENST00000713935.1:c.1198-610_1198-609del|||||||rs35161712||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||GG|GG||1|2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||13/15|NM_000268.4:c.1447-610_1447-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||14/16|NM_001407053.1:c.1333-610_1333-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||12/14|NM_001407054.1:c.1324-610_1324-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||12/14|NM_001407055.1:c.1321-610_1321-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||14/17|NM_001407056.1:c.1333-610_1333-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||12/14|NM_001407057.1:c.1312-610_1312-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||12/15|NM_001407058.1:c.1324-610_1324-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||12/15|NM_001407059.1:c.1312-610_1312-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||13/14|NM_001407060.1:c.1447-610_1447-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||11/13|NM_001407062.1:c.1189-610_1189-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||11/14|NM_001407063.1:c.1198-610_1198-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||11/12|NM_001407064.1:c.1198-610_1198-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||14/17|NM_001407065.1:c.913-610_913-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||13/16|NM_001407066.1:c.1447-610_1447-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||13/16|NM_001407067.1:c.1216-610_1216-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||13/16|NM_016418.5:c.1447-610_1447-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||GG|GG|OK||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||13/15|NM_181825.3:c.1447-610_1447-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||12/15|NM_181828.3:c.1321-610_1321-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||12/15|NM_181829.3:c.1324-610_1324-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||11/14|NM_181830.3:c.1198-610_1198-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||11/14|NM_181831.3:c.1198-610_1198-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||13/16|NM_181832.3:c.1447-610_1447-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-17166_448-17165del|||||||rs35161712||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||6/7|NR_176267.1:n.995-610_995-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||13/15|XM_017028809.3:c.1333-610_1333-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||13/16|XM_047441386.1:c.1333-610_1333-609del|||||||rs35161712||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||GG|GG|||2|chr22:g.29677586_29677587del|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|-48|7|18|-2;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45791;gnomADv4_1_AC_joint_XX=24057;gnomADv4_1_AC_joint_XY=21734;gnomADv4_1_AF_grpmax_joint=0.364551;gnomADv4_1_AF_joint=0.303714;gnomADv4_1_AF_joint_XX=0.311522;gnomADv4_1_AF_joint_XY=0.295516;gnomADv4_1_AN_grpmax_joint=67708;gnomADv4_1_AN_joint=150770;gnomADv4_1_AN_joint_XX=77224;gnomADv4_1_AN_joint_XY=73546;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7264;gnomADv4_1_nhomalt_joint_XX=3942;gnomADv4_1_nhomalt_joint_XY=3322;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29677692 chr22_29677692_T_C T C 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.1;CADD_Rawscore=0.006891;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||11/14|ENST00000334961.11:c.1198-504T>C|||||||rs2857650||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||13/15|ENST00000338641.10:c.1447-504T>C|||||||rs2857650||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||11/14|ENST00000353887.8:c.1198-504T>C|||||||rs2857650||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||12/14|ENST00000361166.10:c.1312-504T>C|||||||rs2857650||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||12/15|ENST00000361452.8:c.1324-504T>C|||||||rs2857650||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||12/15|ENST00000361676.8:c.1321-504T>C|||||||rs2857650||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||13/16|ENST00000397789.3:c.1447-504T>C|||||||rs2857650||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||13/16|ENST00000403435.5:c.1360-504T>C|||||||rs2857650||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||13/15|ENST00000403999.7:c.1447-504T>C|||||||rs2857650||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-17060T>C|||||||rs2857650||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29677692T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||6/7|ENST00000432151.5:c.629-504T>C|||||||rs2857650||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29677692T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||13/17|ENST00000672461.1:c.1447-504T>C|||||||rs2857650||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29677692T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||14/16|ENST00000672805.1:c.*1329-504T>C|||||||rs2857650||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||13/16|ENST00000672896.1:c.1447-504T>C|||||||rs2857650||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29677692T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||14/16|ENST00000673312.2:c.*941-504T>C|||||||rs2857650||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||11/14|ENST00000713935.1:c.1198-504T>C|||||||rs2857650||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||13/15|NM_000268.4:c.1447-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||14/16|NM_001407053.1:c.1333-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||12/14|NM_001407054.1:c.1324-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||12/14|NM_001407055.1:c.1321-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||14/17|NM_001407056.1:c.1333-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||12/14|NM_001407057.1:c.1312-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||12/15|NM_001407058.1:c.1324-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||12/15|NM_001407059.1:c.1312-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||13/14|NM_001407060.1:c.1447-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||11/13|NM_001407062.1:c.1189-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||11/14|NM_001407063.1:c.1198-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||11/12|NM_001407064.1:c.1198-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||14/17|NM_001407065.1:c.913-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||13/16|NM_001407066.1:c.1447-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||13/16|NM_001407067.1:c.1216-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||13/16|NM_016418.5:c.1447-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||13/15|NM_181825.3:c.1447-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||12/15|NM_181828.3:c.1321-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||12/15|NM_181829.3:c.1324-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||11/14|NM_181830.3:c.1198-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||11/14|NM_181831.3:c.1198-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||13/16|NM_181832.3:c.1447-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-17060T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||6/7|NR_176267.1:n.995-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||13/15|XM_017028809.3:c.1333-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||13/16|XM_047441386.1:c.1333-504T>C|||||||rs2857650||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29677692T>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-29|8|8|47;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46006;gnomADv4_1_AC_joint_XX=24147;gnomADv4_1_AC_joint_XY=21859;gnomADv4_1_AF_grpmax_joint=0.364846;gnomADv4_1_AF_joint=0.302583;gnomADv4_1_AF_joint_XX=0.310716;gnomADv4_1_AF_joint_XY=0.29408;gnomADv4_1_AN_grpmax_joint=67952;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7324;gnomADv4_1_nhomalt_joint_XX=3963;gnomADv4_1_nhomalt_joint_XY=3361;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29677970 chr22_29677970_T_TTGAGGGA T TTGAGGGA 44 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.849;CADDIndel_Rawscore=-0.060073;CSQ=TGAGGGA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||11/14|ENST00000334961.11:c.1198-222_1198-216dup|||||||rs3074521||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||13/15|ENST00000338641.10:c.1447-222_1447-216dup|||||||rs3074521||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||11/14|ENST00000353887.8:c.1198-222_1198-216dup|||||||rs3074521||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||12/14|ENST00000361166.10:c.1312-222_1312-216dup|||||||rs3074521||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||12/15|ENST00000361452.8:c.1324-222_1324-216dup|||||||rs3074521||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||12/15|ENST00000361676.8:c.1321-222_1321-216dup|||||||rs3074521||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||13/16|ENST00000397789.3:c.1447-222_1447-216dup|||||||rs3074521||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||13/16|ENST00000403435.5:c.1360-222_1360-216dup|||||||rs3074521||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||13/15|ENST00000403999.7:c.1447-222_1447-216dup|||||||rs3074521||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-16778_448-16772dup|||||||rs3074521||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||6/7|ENST00000432151.5:c.629-222_629-216dup|||||||rs3074521||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||13/17|ENST00000672461.1:c.1447-222_1447-216dup|||||||rs3074521||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||14/16|ENST00000672805.1:c.*1329-222_*1329-216dup|||||||rs3074521||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||13/16|ENST00000672896.1:c.1447-222_1447-216dup|||||||rs3074521||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||14/16|ENST00000673312.2:c.*941-222_*941-216dup|||||||rs3074521||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||11/14|ENST00000713935.1:c.1198-222_1198-216dup|||||||rs3074521||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||13/15|NM_000268.4:c.1447-222_1447-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||14/16|NM_001407053.1:c.1333-222_1333-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||12/14|NM_001407054.1:c.1324-222_1324-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||12/14|NM_001407055.1:c.1321-222_1321-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||14/17|NM_001407056.1:c.1333-222_1333-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||12/14|NM_001407057.1:c.1312-222_1312-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||12/15|NM_001407058.1:c.1324-222_1324-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||12/15|NM_001407059.1:c.1312-222_1312-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||13/14|NM_001407060.1:c.1447-222_1447-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||11/13|NM_001407062.1:c.1189-222_1189-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||11/14|NM_001407063.1:c.1198-222_1198-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||11/12|NM_001407064.1:c.1198-222_1198-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||14/17|NM_001407065.1:c.913-222_913-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||13/16|NM_001407066.1:c.1447-222_1447-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||13/16|NM_001407067.1:c.1216-222_1216-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||13/16|NM_016418.5:c.1447-222_1447-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||13/15|NM_181825.3:c.1447-222_1447-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||12/15|NM_181828.3:c.1321-222_1321-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||12/15|NM_181829.3:c.1324-222_1324-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||11/14|NM_181830.3:c.1198-222_1198-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||11/14|NM_181831.3:c.1198-222_1198-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||13/16|NM_181832.3:c.1447-222_1447-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-16778_448-16772dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||6/7|NR_176267.1:n.995-222_995-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||13/15|XM_017028809.3:c.1333-222_1333-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||,TGAGGGA|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||13/16|XM_047441386.1:c.1333-222_1333-216dup|||||||rs3074521||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||||||10|chr22:g.29677974_29677980dup|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29677974_29677980dup;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=1277026;TYPE=INDEL;VEP_Allele=TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA,TGAGGGA;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45842;gnomADv4_1_AC_joint_XX=24099;gnomADv4_1_AC_joint_XY=21743;gnomADv4_1_AF_grpmax_joint=0.363035;gnomADv4_1_AF_joint=0.302488;gnomADv4_1_AF_joint_XX=0.310923;gnomADv4_1_AF_joint_XY=0.293658;gnomADv4_1_AN_grpmax_joint=67740;gnomADv4_1_AN_joint=151550;gnomADv4_1_AN_joint_XX=77508;gnomADv4_1_AN_joint_XY=74042;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7197;gnomADv4_1_nhomalt_joint_XX=3920;gnomADv4_1_nhomalt_joint_XY=3277;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29678787 chr22_29678787_G_T G T 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.295;CADD_Rawscore=0.04959;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||12/14|ENST00000334961.11:c.1325+464G>T|||||||rs2530675||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||14/15|ENST00000338641.10:c.1574+464G>T|||||||rs2530675||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||12/14|ENST00000353887.8:c.1325+464G>T|||||||rs2530675||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||13/14|ENST00000361166.10:c.1439+464G>T|||||||rs2530675||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||13/15|ENST00000361452.8:c.1451+464G>T|||||||rs2530675||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||13/15|ENST00000361676.8:c.1448+464G>T|||||||rs2530675||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||14/16|ENST00000397789.3:c.1574+464G>T|||||||rs2530675||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||14/16|ENST00000403435.5:c.1487+464G>T|||||||rs2530675||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||14/15|ENST00000403999.7:c.1574+464G>T|||||||rs2530675||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-15965G>T|||||||rs2530675||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29678787G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+464G>T|||||||rs2530675||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29678787G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||14/17|ENST00000672461.1:c.1574+464G>T|||||||rs2530675||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29678787G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||15/16|ENST00000672805.1:c.*1456+464G>T|||||||rs2530675||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||14/16|ENST00000672896.1:c.1574+464G>T|||||||rs2530675||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29678787G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||15/16|ENST00000673312.2:c.*1068+464G>T|||||||rs2530675||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||12/14|ENST00000713935.1:c.1325+464G>T|||||||rs2530675||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||14/15|NM_000268.4:c.1574+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||15/16|NM_001407053.1:c.1460+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||13/14|NM_001407054.1:c.1451+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||13/14|NM_001407055.1:c.1448+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||15/17|NM_001407056.1:c.1460+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||13/14|NM_001407057.1:c.1439+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||13/15|NM_001407058.1:c.1451+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||13/15|NM_001407059.1:c.1439+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||12/13|NM_001407062.1:c.1316+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||12/14|NM_001407063.1:c.1325+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||15/17|NM_001407065.1:c.1040+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||14/16|NM_001407066.1:c.1574+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||14/16|NM_001407067.1:c.1343+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||14/16|NM_016418.5:c.1574+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||14/15|NM_181825.3:c.1574+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||13/15|NM_181828.3:c.1448+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||13/15|NM_181829.3:c.1451+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||12/14|NM_181830.3:c.1325+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||12/14|NM_181831.3:c.1325+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||14/16|NM_181832.3:c.1574+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-15965G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||14/15|XM_017028809.3:c.1460+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||14/16|XM_047441386.1:c.1460+464G>T|||||||rs2530675||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29678787G>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|20|-1|-47|-1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46118;gnomADv4_1_AC_joint_XX=24200;gnomADv4_1_AC_joint_XY=21918;gnomADv4_1_AF_grpmax_joint=0.364793;gnomADv4_1_AF_joint=0.303009;gnomADv4_1_AF_joint_XX=0.311078;gnomADv4_1_AF_joint_XY=0.294573;gnomADv4_1_AN_grpmax_joint=67992;gnomADv4_1_AN_joint=152200;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7360;gnomADv4_1_nhomalt_joint_XX=3983;gnomADv4_1_nhomalt_joint_XY=3377;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29678815 chr22_29678815_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.08;CADD_Rawscore=-0.670261;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||12/14|ENST00000334961.11:c.1325+492A>G|||||||rs2530676||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||14/15|ENST00000338641.10:c.1574+492A>G|||||||rs2530676||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||12/14|ENST00000353887.8:c.1325+492A>G|||||||rs2530676||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||13/14|ENST00000361166.10:c.1439+492A>G|||||||rs2530676||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||13/15|ENST00000361452.8:c.1451+492A>G|||||||rs2530676||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||13/15|ENST00000361676.8:c.1448+492A>G|||||||rs2530676||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||14/16|ENST00000397789.3:c.1574+492A>G|||||||rs2530676||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||14/16|ENST00000403435.5:c.1487+492A>G|||||||rs2530676||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||14/15|ENST00000403999.7:c.1574+492A>G|||||||rs2530676||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-15937A>G|||||||rs2530676||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29678815A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+492A>G|||||||rs2530676||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29678815A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||14/17|ENST00000672461.1:c.1574+492A>G|||||||rs2530676||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29678815A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||15/16|ENST00000672805.1:c.*1456+492A>G|||||||rs2530676||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||14/16|ENST00000672896.1:c.1574+492A>G|||||||rs2530676||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29678815A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||15/16|ENST00000673312.2:c.*1068+492A>G|||||||rs2530676||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||12/14|ENST00000713935.1:c.1325+492A>G|||||||rs2530676||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||14/15|NM_000268.4:c.1574+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||15/16|NM_001407053.1:c.1460+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||13/14|NM_001407054.1:c.1451+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||13/14|NM_001407055.1:c.1448+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||15/17|NM_001407056.1:c.1460+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||13/14|NM_001407057.1:c.1439+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||13/15|NM_001407058.1:c.1451+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||13/15|NM_001407059.1:c.1439+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||12/13|NM_001407062.1:c.1316+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||12/14|NM_001407063.1:c.1325+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||15/17|NM_001407065.1:c.1040+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||14/16|NM_001407066.1:c.1574+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||14/16|NM_001407067.1:c.1343+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||14/16|NM_016418.5:c.1574+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||14/15|NM_181825.3:c.1574+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||13/15|NM_181828.3:c.1448+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||13/15|NM_181829.3:c.1451+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||12/14|NM_181830.3:c.1325+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||12/14|NM_181831.3:c.1325+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||14/16|NM_181832.3:c.1574+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-15937A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||14/15|XM_017028809.3:c.1460+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||14/16|XM_047441386.1:c.1460+492A>G|||||||rs2530676||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29678815A>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-8|9|-10|-29;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46126;gnomADv4_1_AC_joint_XX=24201;gnomADv4_1_AC_joint_XY=21925;gnomADv4_1_AF_grpmax_joint=0.364849;gnomADv4_1_AF_joint=0.303022;gnomADv4_1_AF_joint_XX=0.311035;gnomADv4_1_AF_joint_XY=0.294643;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=152220;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7363;gnomADv4_1_nhomalt_joint_XX=3983;gnomADv4_1_nhomalt_joint_XY=3380;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29678830 chr22_29678830_A_G A G 54 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.014;CADD_Rawscore=-1.15804;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||12/14|ENST00000334961.11:c.1325+507A>G|||||||rs111368552||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||14/15|ENST00000338641.10:c.1574+507A>G|||||||rs111368552||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||12/14|ENST00000353887.8:c.1325+507A>G|||||||rs111368552||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||13/14|ENST00000361166.10:c.1439+507A>G|||||||rs111368552||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||13/15|ENST00000361452.8:c.1451+507A>G|||||||rs111368552||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||13/15|ENST00000361676.8:c.1448+507A>G|||||||rs111368552||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||14/16|ENST00000397789.3:c.1574+507A>G|||||||rs111368552||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||14/16|ENST00000403435.5:c.1487+507A>G|||||||rs111368552||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||14/15|ENST00000403999.7:c.1574+507A>G|||||||rs111368552||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-15922A>G|||||||rs111368552||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29678830A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+507A>G|||||||rs111368552||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29678830A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||14/17|ENST00000672461.1:c.1574+507A>G|||||||rs111368552||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29678830A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||15/16|ENST00000672805.1:c.*1456+507A>G|||||||rs111368552||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||14/16|ENST00000672896.1:c.1574+507A>G|||||||rs111368552||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29678830A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||15/16|ENST00000673312.2:c.*1068+507A>G|||||||rs111368552||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||12/14|ENST00000713935.1:c.1325+507A>G|||||||rs111368552||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||14/15|NM_000268.4:c.1574+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||15/16|NM_001407053.1:c.1460+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||13/14|NM_001407054.1:c.1451+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||13/14|NM_001407055.1:c.1448+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||15/17|NM_001407056.1:c.1460+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||13/14|NM_001407057.1:c.1439+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||13/15|NM_001407058.1:c.1451+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||13/15|NM_001407059.1:c.1439+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||12/13|NM_001407062.1:c.1316+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||12/14|NM_001407063.1:c.1325+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||15/17|NM_001407065.1:c.1040+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||14/16|NM_001407066.1:c.1574+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||14/16|NM_001407067.1:c.1343+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||14/16|NM_016418.5:c.1574+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||14/15|NM_181825.3:c.1574+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||13/15|NM_181828.3:c.1448+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||13/15|NM_181829.3:c.1451+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||12/14|NM_181830.3:c.1325+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||12/14|NM_181831.3:c.1325+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||14/16|NM_181832.3:c.1574+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-15922A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||14/15|XM_017028809.3:c.1460+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||14/16|XM_047441386.1:c.1460+507A>G|||||||rs111368552||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29678830A>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-23|21|-25|-44;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=998;gnomADv4_1_AC_joint_XX=482;gnomADv4_1_AC_joint_XY=516;gnomADv4_1_AF_grpmax_joint=0.0136054;gnomADv4_1_AF_joint=0.0065495;gnomADv4_1_AF_joint_XX=0.00619123;gnomADv4_1_AF_joint_XY=0.00692376;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152378;gnomADv4_1_AN_joint_XX=77852;gnomADv4_1_AN_joint_XY=74526;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2;gnomADv4_1_nhomalt_joint_XX=2;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29679063 chr22_29679063_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=13.01;CADD_Rawscore=1.31568;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||12/14|ENST00000334961.11:c.1325+740T>C|||||||rs2857651||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||14/15|ENST00000338641.10:c.1574+740T>C|||||||rs2857651||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||12/14|ENST00000353887.8:c.1325+740T>C|||||||rs2857651||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||13/14|ENST00000361166.10:c.1439+740T>C|||||||rs2857651||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||13/15|ENST00000361452.8:c.1451+740T>C|||||||rs2857651||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||13/15|ENST00000361676.8:c.1448+740T>C|||||||rs2857651||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||14/16|ENST00000397789.3:c.1574+740T>C|||||||rs2857651||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||14/16|ENST00000403435.5:c.1487+740T>C|||||||rs2857651||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||14/15|ENST00000403999.7:c.1574+740T>C|||||||rs2857651||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-15689T>C|||||||rs2857651||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29679063T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+740T>C|||||||rs2857651||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29679063T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||14/17|ENST00000672461.1:c.1574+740T>C|||||||rs2857651||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29679063T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||15/16|ENST00000672805.1:c.*1456+740T>C|||||||rs2857651||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||14/16|ENST00000672896.1:c.1574+740T>C|||||||rs2857651||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29679063T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||15/16|ENST00000673312.2:c.*1068+740T>C|||||||rs2857651||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||12/14|ENST00000713935.1:c.1325+740T>C|||||||rs2857651||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||14/15|NM_000268.4:c.1574+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||15/16|NM_001407053.1:c.1460+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||13/14|NM_001407054.1:c.1451+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||13/14|NM_001407055.1:c.1448+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||15/17|NM_001407056.1:c.1460+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||13/14|NM_001407057.1:c.1439+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||13/15|NM_001407058.1:c.1451+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||13/15|NM_001407059.1:c.1439+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||12/13|NM_001407062.1:c.1316+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||12/14|NM_001407063.1:c.1325+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||15/17|NM_001407065.1:c.1040+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||14/16|NM_001407066.1:c.1574+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||14/16|NM_001407067.1:c.1343+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||14/16|NM_016418.5:c.1574+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||14/15|NM_181825.3:c.1574+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||13/15|NM_181828.3:c.1448+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||13/15|NM_181829.3:c.1451+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||12/14|NM_181830.3:c.1325+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||12/14|NM_181831.3:c.1325+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||14/16|NM_181832.3:c.1574+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-15689T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||14/15|XM_017028809.3:c.1460+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||14/16|XM_047441386.1:c.1460+740T>C|||||||rs2857651||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29679063T>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|46|-15|46|-25;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46099;gnomADv4_1_AC_joint_XX=24204;gnomADv4_1_AC_joint_XY=21895;gnomADv4_1_AF_grpmax_joint=0.364758;gnomADv4_1_AF_joint=0.302888;gnomADv4_1_AF_joint_XX=0.311137;gnomADv4_1_AF_joint_XY=0.294264;gnomADv4_1_AN_grpmax_joint=68004;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7349;gnomADv4_1_nhomalt_joint_XX=3983;gnomADv4_1_nhomalt_joint_XY=3366;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29679098 chr22_29679098_A_C A C 63 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=63;CADD_PHREDscore=14.99;CADD_Rawscore=1.64323;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||12/14|ENST00000334961.11:c.1325+775A>C|||||||rs2857652||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||14/15|ENST00000338641.10:c.1574+775A>C|||||||rs2857652||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||12/14|ENST00000353887.8:c.1325+775A>C|||||||rs2857652||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||13/14|ENST00000361166.10:c.1439+775A>C|||||||rs2857652||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||13/15|ENST00000361452.8:c.1451+775A>C|||||||rs2857652||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||13/15|ENST00000361676.8:c.1448+775A>C|||||||rs2857652||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||14/16|ENST00000397789.3:c.1574+775A>C|||||||rs2857652||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||14/16|ENST00000403435.5:c.1487+775A>C|||||||rs2857652||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||14/15|ENST00000403999.7:c.1574+775A>C|||||||rs2857652||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-15654A>C|||||||rs2857652||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29679098A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+775A>C|||||||rs2857652||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29679098A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||14/17|ENST00000672461.1:c.1574+775A>C|||||||rs2857652||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29679098A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||15/16|ENST00000672805.1:c.*1456+775A>C|||||||rs2857652||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||14/16|ENST00000672896.1:c.1574+775A>C|||||||rs2857652||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29679098A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||15/16|ENST00000673312.2:c.*1068+775A>C|||||||rs2857652||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||12/14|ENST00000713935.1:c.1325+775A>C|||||||rs2857652||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||14/15|NM_000268.4:c.1574+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||15/16|NM_001407053.1:c.1460+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||13/14|NM_001407054.1:c.1451+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||13/14|NM_001407055.1:c.1448+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||15/17|NM_001407056.1:c.1460+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||13/14|NM_001407057.1:c.1439+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||13/15|NM_001407058.1:c.1451+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||13/15|NM_001407059.1:c.1439+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||12/13|NM_001407062.1:c.1316+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||12/14|NM_001407063.1:c.1325+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||15/17|NM_001407065.1:c.1040+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||14/16|NM_001407066.1:c.1574+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||14/16|NM_001407067.1:c.1343+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||14/16|NM_016418.5:c.1574+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||14/15|NM_181825.3:c.1574+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||13/15|NM_181828.3:c.1448+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||13/15|NM_181829.3:c.1451+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||12/14|NM_181830.3:c.1325+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||12/14|NM_181831.3:c.1325+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||14/16|NM_181832.3:c.1574+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-15654A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||14/15|XM_017028809.3:c.1460+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||14/16|XM_047441386.1:c.1460+775A>C|||||||rs2857652||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29679098A>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-50|0|11|38;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111963;gnomADv4_1_AC_joint_XX=57716;gnomADv4_1_AC_joint_XY=54247;gnomADv4_1_AF_grpmax_joint=0.911231;gnomADv4_1_AF_joint=0.735582;gnomADv4_1_AF_joint_XX=0.741927;gnomADv4_1_AF_joint_XY=0.72895;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152210;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=42012;gnomADv4_1_nhomalt_joint_XX=21806;gnomADv4_1_nhomalt_joint_XY=20206;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29679865 chr22_29679865_C_CA C CA 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=1.46;CADDIndel_Rawscore=0.081032;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||12/14|ENST00000334961.11:c.1325+1556dup|||||||rs1162770802||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||14/15|ENST00000338641.10:c.1574+1556dup|||||||rs1162770802||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||12/14|ENST00000353887.8:c.1325+1556dup|||||||rs1162770802||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||13/14|ENST00000361166.10:c.1439+1556dup|||||||rs1162770802||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||13/15|ENST00000361452.8:c.1451+1556dup|||||||rs1162770802||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||13/15|ENST00000361676.8:c.1448+1556dup|||||||rs1162770802||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||14/16|ENST00000397789.3:c.1574+1556dup|||||||rs1162770802||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||14/16|ENST00000403435.5:c.1487+1556dup|||||||rs1162770802||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||14/15|ENST00000403999.7:c.1574+1556dup|||||||rs1162770802||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-14873dup|||||||rs1162770802||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|14|chr22:g.29679879dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+1556dup|||||||rs1162770802||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|14|chr22:g.29679879dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||14/17|ENST00000672461.1:c.1574+1556dup|||||||rs1162770802||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|14|chr22:g.29679879dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||15/16|ENST00000672805.1:c.*1456+1556dup|||||||rs1162770802||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||14/16|ENST00000672896.1:c.1574+1556dup|||||||rs1162770802||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|14|chr22:g.29679879dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||15/16|ENST00000673312.2:c.*1068+1556dup|||||||rs1162770802||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||12/14|ENST00000713935.1:c.1325+1556dup|||||||rs1162770802||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||14/15|NM_000268.4:c.1574+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||15/16|NM_001407053.1:c.1460+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||13/14|NM_001407054.1:c.1451+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||13/14|NM_001407055.1:c.1448+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||15/17|NM_001407056.1:c.1460+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||13/14|NM_001407057.1:c.1439+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||13/15|NM_001407058.1:c.1451+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||13/15|NM_001407059.1:c.1439+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||12/13|NM_001407062.1:c.1316+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||12/14|NM_001407063.1:c.1325+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||15/17|NM_001407065.1:c.1040+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||14/16|NM_001407066.1:c.1574+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||14/16|NM_001407067.1:c.1343+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||14/16|NM_016418.5:c.1574+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||14/15|NM_181825.3:c.1574+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||13/15|NM_181828.3:c.1448+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||13/15|NM_181829.3:c.1451+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||12/14|NM_181830.3:c.1325+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||12/14|NM_181831.3:c.1325+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||14/16|NM_181832.3:c.1574+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-14873dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||14/15|XM_017028809.3:c.1460+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||14/16|XM_047441386.1:c.1460+1556dup|||||||rs1162770802||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||||||14|chr22:g.29679879dup|||||||||||||;SpliceAI=CA|NF2|0.00|0.00|0.00|0.00|-15|42|0|49;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18832;gnomADv4_1_AC_joint_XX=10088;gnomADv4_1_AC_joint_XY=8744;gnomADv4_1_AF_grpmax_joint=0.190416;gnomADv4_1_AF_joint=0.160836;gnomADv4_1_AF_joint_XX=0.164541;gnomADv4_1_AF_joint_XY=0.156764;gnomADv4_1_AN_grpmax_joint=55736;gnomADv4_1_AN_joint=117088;gnomADv4_1_AN_joint_XX=61310;gnomADv4_1_AN_joint_XY=55778;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1320;gnomADv4_1_nhomalt_joint_XX=716;gnomADv4_1_nhomalt_joint_XY=604;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29680257 chr22_29680257_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.276;CADD_Rawscore=0.045758;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||12/14|ENST00000334961.11:c.1326-1182G>A|||||||rs2530677||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||14/15|ENST00000338641.10:c.1575-1182G>A|||||||rs2530677||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||12/14|ENST00000353887.8:c.1326-1182G>A|||||||rs2530677||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||13/14|ENST00000361166.10:c.1440-1182G>A|||||||rs2530677||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||13/15|ENST00000361452.8:c.1452-1182G>A|||||||rs2530677||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||13/15|ENST00000361676.8:c.1449-1182G>A|||||||rs2530677||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||14/16|ENST00000397789.3:c.1575-1182G>A|||||||rs2530677||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||14/16|ENST00000403435.5:c.1488-1182G>A|||||||rs2530677||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||14/15|ENST00000403999.7:c.1575-1182G>A|||||||rs2530677||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-14495G>A|||||||rs2530677||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29680257G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+1934G>A|||||||rs2530677||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29680257G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||14/17|ENST00000672461.1:c.1575-1182G>A|||||||rs2530677||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29680257G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||15/16|ENST00000672805.1:c.*1457-1182G>A|||||||rs2530677||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||14/16|ENST00000672896.1:c.1575-1182G>A|||||||rs2530677||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29680257G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||15/16|ENST00000673312.2:c.*1069-1182G>A|||||||rs2530677||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||12/14|ENST00000713935.1:c.1326-1182G>A|||||||rs2530677||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||14/15|NM_000268.4:c.1575-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||15/16|NM_001407053.1:c.1461-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||13/14|NM_001407054.1:c.1452-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||13/14|NM_001407055.1:c.1449-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||15/17|NM_001407056.1:c.1461-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||13/14|NM_001407057.1:c.1440-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||13/15|NM_001407058.1:c.1452-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||13/15|NM_001407059.1:c.1440-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+1934G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||12/13|NM_001407062.1:c.1317-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||12/14|NM_001407063.1:c.1326-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+1934G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||15/17|NM_001407065.1:c.1041-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||14/16|NM_001407066.1:c.1575-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||14/16|NM_001407067.1:c.1344-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||14/16|NM_016418.5:c.1575-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||14/15|NM_181825.3:c.1575-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||13/15|NM_181828.3:c.1449-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||13/15|NM_181829.3:c.1452-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||12/14|NM_181830.3:c.1326-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||12/14|NM_181831.3:c.1326-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||14/16|NM_181832.3:c.1575-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-14495G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+1934G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||14/15|XM_017028809.3:c.1461-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||14/16|XM_047441386.1:c.1461-1182G>A|||||||rs2530677||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29680257G>A|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|37|-2|-3|35;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21971;gnomADv4_1_AC_joint_XX=11563;gnomADv4_1_AC_joint_XY=10408;gnomADv4_1_AF_grpmax_joint=0.219493;gnomADv4_1_AF_joint=0.144552;gnomADv4_1_AF_joint_XX=0.148774;gnomADv4_1_AF_joint_XY=0.140134;gnomADv4_1_AN_grpmax_joint=5130;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1742;gnomADv4_1_nhomalt_joint_XX=944;gnomADv4_1_nhomalt_joint_XY=798;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29680409 chr22_29680409_C_T C T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.814;CADD_Rawscore=0.348705;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||12/14|ENST00000334961.11:c.1326-1030C>T|||||||rs2267150||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||14/15|ENST00000338641.10:c.1575-1030C>T|||||||rs2267150||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||12/14|ENST00000353887.8:c.1326-1030C>T|||||||rs2267150||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||13/14|ENST00000361166.10:c.1440-1030C>T|||||||rs2267150||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||13/15|ENST00000361452.8:c.1452-1030C>T|||||||rs2267150||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||13/15|ENST00000361676.8:c.1449-1030C>T|||||||rs2267150||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||14/16|ENST00000397789.3:c.1575-1030C>T|||||||rs2267150||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||14/16|ENST00000403435.5:c.1488-1030C>T|||||||rs2267150||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||C|C||1||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||14/15|ENST00000403999.7:c.1575-1030C>T|||||||rs2267150||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-14343C>T|||||||rs2267150||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29680409C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+2086C>T|||||||rs2267150||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29680409C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||14/17|ENST00000672461.1:c.1575-1030C>T|||||||rs2267150||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29680409C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||15/16|ENST00000672805.1:c.*1457-1030C>T|||||||rs2267150||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||14/16|ENST00000672896.1:c.1575-1030C>T|||||||rs2267150||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29680409C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||15/16|ENST00000673312.2:c.*1069-1030C>T|||||||rs2267150||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||12/14|ENST00000713935.1:c.1326-1030C>T|||||||rs2267150||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||14/15|NM_000268.4:c.1575-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||15/16|NM_001407053.1:c.1461-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||13/14|NM_001407054.1:c.1452-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||13/14|NM_001407055.1:c.1449-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||15/17|NM_001407056.1:c.1461-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||13/14|NM_001407057.1:c.1440-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||13/15|NM_001407058.1:c.1452-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||13/15|NM_001407059.1:c.1440-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+2086C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||12/13|NM_001407062.1:c.1317-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||12/14|NM_001407063.1:c.1326-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+2086C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||15/17|NM_001407065.1:c.1041-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||14/16|NM_001407066.1:c.1575-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||14/16|NM_001407067.1:c.1344-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||14/16|NM_016418.5:c.1575-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||14/15|NM_181825.3:c.1575-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||13/15|NM_181828.3:c.1449-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||13/15|NM_181829.3:c.1452-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||12/14|NM_181830.3:c.1326-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||12/14|NM_181831.3:c.1326-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||14/16|NM_181832.3:c.1575-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-14343C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+2086C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||14/15|XM_017028809.3:c.1461-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||14/16|XM_047441386.1:c.1461-1030C>T|||||||rs2267150||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29680409C>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|10|-35|9|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46088;gnomADv4_1_AC_joint_XX=24186;gnomADv4_1_AC_joint_XY=21902;gnomADv4_1_AF_grpmax_joint=0.364867;gnomADv4_1_AF_joint=0.302959;gnomADv4_1_AF_joint_XX=0.311002;gnomADv4_1_AF_joint_XY=0.294548;gnomADv4_1_AN_grpmax_joint=67970;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74358;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7354;gnomADv4_1_nhomalt_joint_XX=3978;gnomADv4_1_nhomalt_joint_XY=3376;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29680853 chr22_29680853_TA_T;chr22_29680853_T_TA TA T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADDIndel_PHREDscore=0.075;CADDIndel_Rawscore=-0.688732;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||12/14|ENST00000334961.11:c.1326-574del|||||||rs34045954||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1|11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||14/15|ENST00000338641.10:c.1575-574del|||||||rs34045954||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1|11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||12/14|ENST00000353887.8:c.1326-574del|||||||rs34045954||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1|11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||13/14|ENST00000361166.10:c.1440-574del|||||||rs34045954||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1|11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||13/15|ENST00000361452.8:c.1452-574del|||||||rs34045954||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1|11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||13/15|ENST00000361676.8:c.1449-574del|||||||rs34045954||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1|11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||14/16|ENST00000397789.3:c.1575-574del|||||||rs34045954||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1|11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||14/16|ENST00000403435.5:c.1488-574del|||||||rs34045954||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1|11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||14/15|ENST00000403999.7:c.1575-574del|||||||rs34045954||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1|11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-13887del|||||||rs34045954||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1|11|chr22:g.29680865del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+2542del|||||||rs34045954||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1|11|chr22:g.29680865del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||14/17|ENST00000672461.1:c.1575-574del|||||||rs34045954||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1|11|chr22:g.29680865del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||15/16|ENST00000672805.1:c.*1457-574del|||||||rs34045954||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1|11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||14/16|ENST00000672896.1:c.1575-574del|||||||rs34045954||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1|11|chr22:g.29680865del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||15/16|ENST00000673312.2:c.*1069-574del|||||||rs34045954||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1|11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||12/14|ENST00000713935.1:c.1326-574del|||||||rs34045954||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1|11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||14/15|NM_000268.4:c.1575-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||15/16|NM_001407053.1:c.1461-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||13/14|NM_001407054.1:c.1452-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||13/14|NM_001407055.1:c.1449-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||15/17|NM_001407056.1:c.1461-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||13/14|NM_001407057.1:c.1440-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||13/15|NM_001407058.1:c.1452-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||13/15|NM_001407059.1:c.1440-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+2542del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||12/13|NM_001407062.1:c.1317-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||12/14|NM_001407063.1:c.1326-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+2542del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||15/17|NM_001407065.1:c.1041-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||14/16|NM_001407066.1:c.1575-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||14/16|NM_001407067.1:c.1344-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||14/16|NM_016418.5:c.1575-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||14/15|NM_181825.3:c.1575-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||13/15|NM_181828.3:c.1449-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||13/15|NM_181829.3:c.1452-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||12/14|NM_181830.3:c.1326-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||12/14|NM_181831.3:c.1326-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||14/16|NM_181832.3:c.1575-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-13887del|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+2542del|||||||rs34045954||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||14/15|XM_017028809.3:c.1461-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||14/16|XM_047441386.1:c.1461-574del|||||||rs34045954||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A|||11|chr22:g.29680865del|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|-38|42|5|42;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44971;gnomADv4_1_AC_joint_XX=23776;gnomADv4_1_AC_joint_XY=21195;gnomADv4_1_AF_grpmax_joint=0.37079;gnomADv4_1_AF_joint=0.310269;gnomADv4_1_AF_joint_XX=0.318286;gnomADv4_1_AF_joint_XY=0.301743;gnomADv4_1_AN_grpmax_joint=66148;gnomADv4_1_AN_joint=144942;gnomADv4_1_AN_joint_XX=74700;gnomADv4_1_AN_joint_XY=70242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7061;gnomADv4_1_nhomalt_joint_XX=3872;gnomADv4_1_nhomalt_joint_XY=3189;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29680853 chr22_29680853_TA_T;chr22_29680853_T_TA T TA 57 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=0.848;CADDIndel_Rawscore=-0.060338;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||12/14|ENST00000334961.11:c.1326-574dup|||||||rs34045954||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||14/15|ENST00000338641.10:c.1575-574dup|||||||rs34045954||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||12/14|ENST00000353887.8:c.1326-574dup|||||||rs34045954||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1|12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||13/14|ENST00000361166.10:c.1440-574dup|||||||rs34045954||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1|12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||13/15|ENST00000361452.8:c.1452-574dup|||||||rs34045954||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||13/15|ENST00000361676.8:c.1449-574dup|||||||rs34045954||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1|12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||14/16|ENST00000397789.3:c.1575-574dup|||||||rs34045954||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||14/16|ENST00000403435.5:c.1488-574dup|||||||rs34045954||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl|||||1|12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||14/15|ENST00000403999.7:c.1575-574dup|||||||rs34045954||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-13887dup|||||||rs34045954||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|12|chr22:g.29680865dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+2542dup|||||||rs34045954||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1|12|chr22:g.29680865dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||14/17|ENST00000672461.1:c.1575-574dup|||||||rs34045954||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|12|chr22:g.29680865dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||15/16|ENST00000672805.1:c.*1457-574dup|||||||rs34045954||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1|12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||14/16|ENST00000672896.1:c.1575-574dup|||||||rs34045954||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|12|chr22:g.29680865dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||15/16|ENST00000673312.2:c.*1069-574dup|||||||rs34045954||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1|12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||12/14|ENST00000713935.1:c.1326-574dup|||||||rs34045954||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl|||||1|12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||14/15|NM_000268.4:c.1575-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||15/16|NM_001407053.1:c.1461-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||13/14|NM_001407054.1:c.1452-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||13/14|NM_001407055.1:c.1449-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||15/17|NM_001407056.1:c.1461-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||13/14|NM_001407057.1:c.1440-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||13/15|NM_001407058.1:c.1452-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||13/15|NM_001407059.1:c.1440-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+2542dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||12/13|NM_001407062.1:c.1317-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||12/14|NM_001407063.1:c.1326-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+2542dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||15/17|NM_001407065.1:c.1041-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||14/16|NM_001407066.1:c.1575-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||14/16|NM_001407067.1:c.1344-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||14/16|NM_016418.5:c.1575-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||14/15|NM_181825.3:c.1575-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||13/15|NM_181828.3:c.1449-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||13/15|NM_181829.3:c.1452-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||12/14|NM_181830.3:c.1326-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||12/14|NM_181831.3:c.1326-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||14/16|NM_181832.3:c.1575-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-13887dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+2542dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||14/15|XM_017028809.3:c.1461-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||14/16|XM_047441386.1:c.1461-574dup|||||||rs34045954||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||||||12|chr22:g.29680865dup|||||||||||||;SpliceAI=TA|NF2|0.00|0.00|0.00|0.00|11|42|42|-24;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20886;gnomADv4_1_AC_joint_XX=10685;gnomADv4_1_AC_joint_XY=10201;gnomADv4_1_AF_grpmax_joint=0.1965;gnomADv4_1_AF_joint=0.144008;gnomADv4_1_AF_joint_XX=0.14292;gnomADv4_1_AF_joint_XY=0.145165;gnomADv4_1_AN_grpmax_joint=39252;gnomADv4_1_AN_joint=145034;gnomADv4_1_AN_joint_XX=74762;gnomADv4_1_AN_joint_XY=70272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1559;gnomADv4_1_nhomalt_joint_XX=795;gnomADv4_1_nhomalt_joint_XY=764;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29680946 chr22_29680946_GT_G GT G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.569;CADDIndel_Rawscore=-0.160863;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||12/14|ENST00000334961.11:c.1326-483del|||||||rs66739096||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1|9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||14/15|ENST00000338641.10:c.1575-483del|||||||rs66739096||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1|9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||12/14|ENST00000353887.8:c.1326-483del|||||||rs66739096||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1|9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||13/14|ENST00000361166.10:c.1440-483del|||||||rs66739096||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1|9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||13/15|ENST00000361452.8:c.1452-483del|||||||rs66739096||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1|9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||13/15|ENST00000361676.8:c.1449-483del|||||||rs66739096||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1|9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||14/16|ENST00000397789.3:c.1575-483del|||||||rs66739096||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||14/16|ENST00000403435.5:c.1488-483del|||||||rs66739096||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1|9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||14/15|ENST00000403999.7:c.1575-483del|||||||rs66739096||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-13796del|||||||rs66739096||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1|9|chr22:g.29680956del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+2633del|||||||rs66739096||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1|9|chr22:g.29680956del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||14/17|ENST00000672461.1:c.1575-483del|||||||rs66739096||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|9|chr22:g.29680956del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||15/16|ENST00000672805.1:c.*1457-483del|||||||rs66739096||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1|9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||14/16|ENST00000672896.1:c.1575-483del|||||||rs66739096||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1|9|chr22:g.29680956del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||15/16|ENST00000673312.2:c.*1069-483del|||||||rs66739096||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1|9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||12/14|ENST00000713935.1:c.1326-483del|||||||rs66739096||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1|9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||14/15|NM_000268.4:c.1575-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||15/16|NM_001407053.1:c.1461-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||13/14|NM_001407054.1:c.1452-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||13/14|NM_001407055.1:c.1449-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||15/17|NM_001407056.1:c.1461-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||13/14|NM_001407057.1:c.1440-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||13/15|NM_001407058.1:c.1452-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||13/15|NM_001407059.1:c.1440-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+2633del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||12/13|NM_001407062.1:c.1317-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||12/14|NM_001407063.1:c.1326-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+2633del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||15/17|NM_001407065.1:c.1041-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||14/16|NM_001407066.1:c.1575-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||14/16|NM_001407067.1:c.1344-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||14/16|NM_016418.5:c.1575-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||14/15|NM_181825.3:c.1575-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||13/15|NM_181828.3:c.1449-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||13/15|NM_181829.3:c.1452-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||12/14|NM_181830.3:c.1326-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||12/14|NM_181831.3:c.1326-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||14/16|NM_181832.3:c.1575-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-13796del|||||||rs66739096||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+2633del|||||||rs66739096||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||14/15|XM_017028809.3:c.1461-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||14/16|XM_047441386.1:c.1461-483del|||||||rs66739096||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T|||9|chr22:g.29680956del|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-18|17|-5|41;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45815;gnomADv4_1_AC_joint_XX=24070;gnomADv4_1_AC_joint_XY=21745;gnomADv4_1_AF_grpmax_joint=0.36736;gnomADv4_1_AF_joint=0.30627;gnomADv4_1_AF_joint_XX=0.314017;gnomADv4_1_AF_joint_XY=0.29813;gnomADv4_1_AN_grpmax_joint=67340;gnomADv4_1_AN_joint=149590;gnomADv4_1_AN_joint_XX=76652;gnomADv4_1_AN_joint_XY=72938;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7306;gnomADv4_1_nhomalt_joint_XX=3954;gnomADv4_1_nhomalt_joint_XY=3352;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29681068 chr22_29681068_A_T A T 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.24;CADD_Rawscore=-0.379404;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||12/14|ENST00000334961.11:c.1326-371A>T|||||||rs78827556||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||14/15|ENST00000338641.10:c.1575-371A>T|||||||rs78827556||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||12/14|ENST00000353887.8:c.1326-371A>T|||||||rs78827556||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||13/14|ENST00000361166.10:c.1440-371A>T|||||||rs78827556||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||13/15|ENST00000361452.8:c.1452-371A>T|||||||rs78827556||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||13/15|ENST00000361676.8:c.1449-371A>T|||||||rs78827556||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||14/16|ENST00000397789.3:c.1575-371A>T|||||||rs78827556||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||14/16|ENST00000403435.5:c.1488-371A>T|||||||rs78827556||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||14/15|ENST00000403999.7:c.1575-371A>T|||||||rs78827556||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-13684A>T|||||||rs78827556||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29681068A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+2745A>T|||||||rs78827556||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29681068A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||14/17|ENST00000672461.1:c.1575-371A>T|||||||rs78827556||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29681068A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||15/16|ENST00000672805.1:c.*1457-371A>T|||||||rs78827556||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||14/16|ENST00000672896.1:c.1575-371A>T|||||||rs78827556||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29681068A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||15/16|ENST00000673312.2:c.*1069-371A>T|||||||rs78827556||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||12/14|ENST00000713935.1:c.1326-371A>T|||||||rs78827556||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||14/15|NM_000268.4:c.1575-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||15/16|NM_001407053.1:c.1461-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||13/14|NM_001407054.1:c.1452-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||13/14|NM_001407055.1:c.1449-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||15/17|NM_001407056.1:c.1461-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||13/14|NM_001407057.1:c.1440-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||13/15|NM_001407058.1:c.1452-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||13/15|NM_001407059.1:c.1440-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+2745A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||12/13|NM_001407062.1:c.1317-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||12/14|NM_001407063.1:c.1326-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+2745A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||15/17|NM_001407065.1:c.1041-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||14/16|NM_001407066.1:c.1575-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||14/16|NM_001407067.1:c.1344-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||14/16|NM_016418.5:c.1575-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||14/15|NM_181825.3:c.1575-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||13/15|NM_181828.3:c.1449-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||13/15|NM_181829.3:c.1452-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||12/14|NM_181830.3:c.1326-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||12/14|NM_181831.3:c.1326-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||14/16|NM_181832.3:c.1575-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-13684A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+2745A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||14/15|XM_017028809.3:c.1461-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||14/16|XM_047441386.1:c.1461-371A>T|||||||rs78827556||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29681068A>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|8|10|-47|-3;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21534;gnomADv4_1_AC_joint_XX=10955;gnomADv4_1_AC_joint_XY=10579;gnomADv4_1_AF_grpmax_joint=0.200167;gnomADv4_1_AF_joint=0.151199;gnomADv4_1_AF_joint_XX=0.14943;gnomADv4_1_AF_joint_XY=0.153075;gnomADv4_1_AN_grpmax_joint=39482;gnomADv4_1_AN_joint=142422;gnomADv4_1_AN_joint_XX=73312;gnomADv4_1_AN_joint_XY=69110;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1647;gnomADv4_1_nhomalt_joint_XX=829;gnomADv4_1_nhomalt_joint_XY=818;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29681069 chr22_29681069_A_T A T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.102;CADD_Rawscore=-0.605915;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||12/14|ENST00000334961.11:c.1326-370A>T|||||||rs75006331||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||14/15|ENST00000338641.10:c.1575-370A>T|||||||rs75006331||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||12/14|ENST00000353887.8:c.1326-370A>T|||||||rs75006331||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||13/14|ENST00000361166.10:c.1440-370A>T|||||||rs75006331||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||13/15|ENST00000361452.8:c.1452-370A>T|||||||rs75006331||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||13/15|ENST00000361676.8:c.1449-370A>T|||||||rs75006331||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||14/16|ENST00000397789.3:c.1575-370A>T|||||||rs75006331||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||14/16|ENST00000403435.5:c.1488-370A>T|||||||rs75006331||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||14/15|ENST00000403999.7:c.1575-370A>T|||||||rs75006331||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-13683A>T|||||||rs75006331||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29681069A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+2746A>T|||||||rs75006331||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29681069A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||14/17|ENST00000672461.1:c.1575-370A>T|||||||rs75006331||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29681069A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||15/16|ENST00000672805.1:c.*1457-370A>T|||||||rs75006331||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||14/16|ENST00000672896.1:c.1575-370A>T|||||||rs75006331||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29681069A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||15/16|ENST00000673312.2:c.*1069-370A>T|||||||rs75006331||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||12/14|ENST00000713935.1:c.1326-370A>T|||||||rs75006331||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||14/15|NM_000268.4:c.1575-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||15/16|NM_001407053.1:c.1461-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||13/14|NM_001407054.1:c.1452-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||13/14|NM_001407055.1:c.1449-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||15/17|NM_001407056.1:c.1461-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||13/14|NM_001407057.1:c.1440-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||13/15|NM_001407058.1:c.1452-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||13/15|NM_001407059.1:c.1440-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+2746A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||12/13|NM_001407062.1:c.1317-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||12/14|NM_001407063.1:c.1326-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+2746A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||15/17|NM_001407065.1:c.1041-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||14/16|NM_001407066.1:c.1575-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||14/16|NM_001407067.1:c.1344-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||14/16|NM_016418.5:c.1575-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||14/15|NM_181825.3:c.1575-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||13/15|NM_181828.3:c.1449-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||13/15|NM_181829.3:c.1452-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||12/14|NM_181830.3:c.1326-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||12/14|NM_181831.3:c.1326-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||14/16|NM_181832.3:c.1575-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-13683A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+2746A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||14/15|XM_017028809.3:c.1461-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||14/16|XM_047441386.1:c.1461-370A>T|||||||rs75006331||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29681069A>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|7|9|-2|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14312;gnomADv4_1_AC_joint_XX=7144;gnomADv4_1_AC_joint_XY=7168;gnomADv4_1_AF_grpmax_joint=0.168703;gnomADv4_1_AF_joint=0.0956224;gnomADv4_1_AF_joint_XX=0.0931397;gnomADv4_1_AF_joint_XY=0.0982322;gnomADv4_1_AN_grpmax_joint=4748;gnomADv4_1_AN_joint=149672;gnomADv4_1_AN_joint_XX=76702;gnomADv4_1_AN_joint_XY=72970;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=846;gnomADv4_1_nhomalt_joint_XX=419;gnomADv4_1_nhomalt_joint_XY=427;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29681372 chr22_29681372_G_A G A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.517;CADD_Rawscore=-0.185016;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||12/14|ENST00000334961.11:c.1326-67G>A|||||||rs140086||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||14/15|ENST00000338641.10:c.1575-67G>A|||||||rs140086||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||12/14|ENST00000353887.8:c.1326-67G>A|||||||rs140086||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||13/14|ENST00000361166.10:c.1440-67G>A|||||||rs140086||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||13/15|ENST00000361452.8:c.1452-67G>A|||||||rs140086||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||13/15|ENST00000361676.8:c.1449-67G>A|||||||rs140086||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||14/16|ENST00000397789.3:c.1575-67G>A|||||||rs140086||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||14/16|ENST00000403435.5:c.1488-67G>A|||||||rs140086||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||14/15|ENST00000403999.7:c.1575-67G>A|||||||rs140086||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-13380G>A|||||||rs140086||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+3049G>A|||||||rs140086||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||14/17|ENST00000672461.1:c.1575-67G>A|||||||rs140086||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||15/16|ENST00000672805.1:c.*1457-67G>A|||||||rs140086||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||14/16|ENST00000672896.1:c.1575-67G>A|||||||rs140086||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||15/16|ENST00000673312.2:c.*1069-67G>A|||||||rs140086||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||12/14|ENST00000713935.1:c.1326-67G>A|||||||rs140086||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||14/15|NM_000268.4:c.1575-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||15/16|NM_001407053.1:c.1461-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||13/14|NM_001407054.1:c.1452-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||13/14|NM_001407055.1:c.1449-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||15/17|NM_001407056.1:c.1461-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||13/14|NM_001407057.1:c.1440-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||13/15|NM_001407058.1:c.1452-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||13/15|NM_001407059.1:c.1440-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+3049G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||12/13|NM_001407062.1:c.1317-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||12/14|NM_001407063.1:c.1326-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+3049G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||15/17|NM_001407065.1:c.1041-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||14/16|NM_001407066.1:c.1575-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||14/16|NM_001407067.1:c.1344-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||14/16|NM_016418.5:c.1575-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||14/15|NM_181825.3:c.1575-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||13/15|NM_181828.3:c.1449-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||13/15|NM_181829.3:c.1452-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||12/14|NM_181830.3:c.1326-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||12/14|NM_181831.3:c.1326-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||14/16|NM_181832.3:c.1575-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-13380G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+3049G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||14/15|XM_017028809.3:c.1461-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||14/16|XM_047441386.1:c.1461-67G>A|||||||rs140086||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29681372G>A|benign||1||||||||||;ClinVar_CLNDN=Neurofibromatosis&_type_2|not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29681372G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=803676;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|23|37|-8|-26;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1601388;gnomADv4_1_AC_joint_XX=805642;gnomADv4_1_AC_joint_XY=795746;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999975;gnomADv4_1_AF_joint_XX=0.99997;gnomADv4_1_AF_joint_XY=0.99998;gnomADv4_1_AN_grpmax_joint=5304;gnomADv4_1_AN_joint=1601428;gnomADv4_1_AN_joint_XX=805666;gnomADv4_1_AN_joint_XY=795762;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=800674;gnomADv4_1_nhomalt_joint_XX=402809;gnomADv4_1_nhomalt_joint_XY=397865;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29683224 chr22_29683224_T_C T C 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=14.74;CADD_Rawscore=1.59721;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||14/14|ENST00000334961.11:c.*9+160T>C|||||||rs7291645||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1737+1623T>C|||||||rs7291645||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*9+160T>C|||||||rs7291645||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1602+1623T>C|||||||rs7291645||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*9+160T>C|||||||rs7291645||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*9+160T>C|||||||rs7291645||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*24+145T>C|||||||rs7291645||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||16/16|ENST00000403435.5:c.*9+160T>C|||||||rs7291645||1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29683224T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding|16/16||ENST00000403999.7:c.*169T>C||2308|||||rs7291645||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-11528T>C|||||||rs7291645||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+4901T>C|||||||rs7291645||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*9+160T>C|||||||rs7291645||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1619+1623T>C|||||||rs7291645||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*9+160T>C|||||||rs7291645||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1231+1623T>C|||||||rs7291645||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||14/14|ENST00000713935.1:c.*9+160T>C|||||||rs7291645||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1737+1623T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1623+1623T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1614+1623T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1611+1623T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*9+160T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1602+1623T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*24+145T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*9+160T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+4901T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1479+1623T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*24+145T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+4901T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*9+160T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||16/16|NM_001407066.1:c.*9+160T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*9+160T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*9+160T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29683224T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding|16/16||NM_181825.3:c.*169T>C||2308|||||rs7291645||1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*9+160T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*9+160T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*9+160T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||14/14|NM_181831.3:c.*9+160T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*24+145T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-11528T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+4901T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1623+1623T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*24+145T>C|||||||rs7291645||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29683224T>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29683224T>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=676991;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|3|20|-48|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=539056;gnomADv4_1_AC_joint_XX=276847;gnomADv4_1_AC_joint_XY=262209;gnomADv4_1_AF_grpmax_joint=0.368029;gnomADv4_1_AF_joint=0.34226;gnomADv4_1_AF_joint_XX=0.347752;gnomADv4_1_AF_joint_XY=0.336646;gnomADv4_1_AN_grpmax_joint=1159924;gnomADv4_1_AN_joint=1574990;gnomADv4_1_AN_joint_XX=796104;gnomADv4_1_AN_joint_XY=778886;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=95162;gnomADv4_1_nhomalt_joint_XX=49267;gnomADv4_1_nhomalt_joint_XY=45895;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29684528 chr22_29684528_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=7.148;CADD_Rawscore=0.67423;CSQ=A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs6006225|613|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1737+2927G>A|||||||rs6006225||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*9+1464G>A|||||||rs6006225||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1602+2927G>A|||||||rs6006225||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*9+1464G>A|||||||rs6006225||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*9+1464G>A|||||||rs6006225||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*24+1449G>A|||||||rs6006225||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29684528G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs6006225|366|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29684528G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs6006225|613|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-10224G>A|||||||rs6006225||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29684528G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+6205G>A|||||||rs6006225||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29684528G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*9+1464G>A|||||||rs6006225||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29684528G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1619+2927G>A|||||||rs6006225||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*9+1464G>A|||||||rs6006225||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29684528G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1231+2927G>A|||||||rs6006225||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||14/14|ENST00000713935.1:c.*9+1464G>A|||||||rs6006225||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1737+2927G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1623+2927G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1614+2927G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1611+2927G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*9+1464G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1602+2927G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*24+1449G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*9+1464G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+6205G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1479+2927G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*24+1449G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+6205G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*9+1464G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs6006225|353|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*9+1464G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*9+1464G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29684528G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs6006225|613|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*9+1464G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*9+1464G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*9+1464G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs6006225|353|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*24+1449G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-10224G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+6205G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1623+2927G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*24+1449G>A|||||||rs6006225||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29684528G>A|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|-19|29|-19|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21457;gnomADv4_1_AC_joint_XX=10912;gnomADv4_1_AC_joint_XY=10545;gnomADv4_1_AF_grpmax_joint=0.19129;gnomADv4_1_AF_joint=0.141007;gnomADv4_1_AF_joint_XX=0.1403;gnomADv4_1_AF_joint_XY=0.141745;gnomADv4_1_AN_grpmax_joint=41492;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1658;gnomADv4_1_nhomalt_joint_XX=842;gnomADv4_1_nhomalt_joint_XY=816;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29685726 chr22_29685726_G_A G A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.899;CADD_Rawscore=-0.045365;CSQ=A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs2530678|1811|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1737+4125G>A|||||||rs2530678||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*9+2662G>A|||||||rs2530678||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1602+4125G>A|||||||rs2530678||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*9+2662G>A|||||||rs2530678||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*9+2662G>A|||||||rs2530678||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*24+2647G>A|||||||rs2530678||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29685726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs2530678|1564|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29685726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs2530678|1811|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-9026G>A|||||||rs2530678||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29685726G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+7403G>A|||||||rs2530678||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29685726G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*9+2662G>A|||||||rs2530678||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29685726G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1619+4125G>A|||||||rs2530678||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*9+2662G>A|||||||rs2530678||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29685726G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1231+4125G>A|||||||rs2530678||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||14/14|ENST00000713935.1:c.*10-2494G>A|||||||rs2530678||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1737+4125G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1623+4125G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1614+4125G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1611+4125G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*9+2662G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1602+4125G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*24+2647G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*9+2662G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+7403G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1479+4125G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*24+2647G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+7403G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*9+2662G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs2530678|1551|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*9+2662G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*9+2662G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29685726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs2530678|1811|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*9+2662G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*9+2662G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*9+2662G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs2530678|1551|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*24+2647G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-9026G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+7403G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1623+4125G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*24+2647G>A|||||||rs2530678||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29685726G>A|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|8|-10|6|29;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34779;gnomADv4_1_AC_joint_XX=17496;gnomADv4_1_AC_joint_XY=17283;gnomADv4_1_AF_grpmax_joint=0.430368;gnomADv4_1_AF_joint=0.228824;gnomADv4_1_AF_joint_XX=0.225162;gnomADv4_1_AF_joint_XY=0.232655;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4250;gnomADv4_1_nhomalt_joint_XX=2142;gnomADv4_1_nhomalt_joint_XY=2108;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29686342 chr22_29686342_T_C T C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.378;CADD_Rawscore=0.210198;CSQ=C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs9625850|2427|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1737+4741T>C|||||||rs9625850||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*9+3278T>C|||||||rs9625850||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1602+4741T>C|||||||rs9625850||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*9+3278T>C|||||||rs9625850||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*9+3278T>C|||||||rs9625850||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*24+3263T>C|||||||rs9625850||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29686342T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs9625850|2180|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29686342T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs9625850|2427|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-8410T>C|||||||rs9625850||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29686342T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*93+8019T>C|||||||rs9625850||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29686342T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*9+3278T>C|||||||rs9625850||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29686342T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1619+4741T>C|||||||rs9625850||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*9+3278T>C|||||||rs9625850||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29686342T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1231+4741T>C|||||||rs9625850||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||14/14|ENST00000713935.1:c.*10-1878T>C|||||||rs9625850||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1737+4741T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1623+4741T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1614+4741T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1611+4741T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*9+3278T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1602+4741T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*24+3263T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*9+3278T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1574+8019T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1479+4741T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*24+3263T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1325+8019T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*9+3278T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs9625850|2167|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*9+3278T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*9+3278T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29686342T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs9625850|2427|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*9+3278T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*9+3278T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*9+3278T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs9625850|2167|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*24+3263T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-8410T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1122+8019T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1623+4741T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*24+3263T>C|||||||rs9625850||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29686342T>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|28|50|28|-35;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14653;gnomADv4_1_AC_joint_XX=7278;gnomADv4_1_AC_joint_XY=7375;gnomADv4_1_AF_grpmax_joint=0.168877;gnomADv4_1_AF_joint=0.0962038;gnomADv4_1_AF_joint_XX=0.0935043;gnomADv4_1_AF_joint_XY=0.0990252;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152312;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=884;gnomADv4_1_nhomalt_joint_XX=435;gnomADv4_1_nhomalt_joint_XY=449;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29686580 chr22_29686580_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.776;CADD_Rawscore=0.132563;CSQ=G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs2530679|2665|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1737+4979A>G|||||||rs2530679||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*9+3516A>G|||||||rs2530679||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1602+4979A>G|||||||rs2530679||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*9+3516A>G|||||||rs2530679||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*9+3516A>G|||||||rs2530679||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*24+3501A>G|||||||rs2530679||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29686580A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs2530679|2418|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29686580A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs2530679|2665|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-8172A>G|||||||rs2530679||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29686580A>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-8172A>G|||||||rs2530679||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29686580A>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*9+3516A>G|||||||rs2530679||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29686580A>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1619+4979A>G|||||||rs2530679||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*9+3516A>G|||||||rs2530679||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29686580A>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1231+4979A>G|||||||rs2530679||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||14/14|ENST00000713935.1:c.*10-1640A>G|||||||rs2530679||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1737+4979A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1623+4979A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1614+4979A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1611+4979A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*9+3516A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1602+4979A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*24+3501A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*9+3516A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-8172A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1479+4979A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*24+3501A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-8172A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*9+3516A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs2530679|2405|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*9+3516A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*9+3516A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29686580A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs2530679|2665|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*9+3516A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*9+3516A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*9+3516A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs2530679|2405|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*24+3501A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-8172A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-8172A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1623+4979A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*24+3501A>G|||||||rs2530679||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29686580A>G|||1||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|0|2|0|44;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=93137;gnomADv4_1_AC_joint_XX=48234;gnomADv4_1_AC_joint_XY=44903;gnomADv4_1_AF_grpmax_joint=0.85;gnomADv4_1_AF_joint=0.612155;gnomADv4_1_AF_joint_XX=0.620182;gnomADv4_1_AF_joint_XY=0.603762;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=29365;gnomADv4_1_nhomalt_joint_XX=15325;gnomADv4_1_nhomalt_joint_XY=14040;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29687437 chr22_29687437_T_G T G 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=17.45;CADD_Rawscore=2.15107;CSQ=G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs5752953|3522|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1737+5836T>G|||||||rs5752953||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*9+4373T>G|||||||rs5752953||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1602+5836T>G|||||||rs5752953||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*9+4373T>G|||||||rs5752953||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*9+4373T>G|||||||rs5752953||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*24+4358T>G|||||||rs5752953||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29687437T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs5752953|3275|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29687437T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs5752953|3522|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-7315T>G|||||||rs5752953||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29687437T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-7315T>G|||||||rs5752953||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29687437T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*9+4373T>G|||||||rs5752953||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29687437T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1619+5836T>G|||||||rs5752953||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*9+4373T>G|||||||rs5752953||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29687437T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1231+5836T>G|||||||rs5752953||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||14/14|ENST00000713935.1:c.*10-783T>G|||||||rs5752953||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1737+5836T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1623+5836T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1614+5836T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1611+5836T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*9+4373T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1602+5836T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*24+4358T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*9+4373T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-7315T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1479+5836T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*24+4358T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-7315T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*9+4373T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs5752953|3262|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*9+4373T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*9+4373T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29687437T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs5752953|3522|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*9+4373T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*9+4373T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*9+4373T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs5752953|3262|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*24+4358T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-7315T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-7315T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1623+5836T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*24+4358T>G|||||||rs5752953||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29687437T>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|3|-30|-1|-7;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46311;gnomADv4_1_AC_joint_XX=24305;gnomADv4_1_AC_joint_XY=22006;gnomADv4_1_AF_grpmax_joint=0.365142;gnomADv4_1_AF_joint=0.305115;gnomADv4_1_AF_joint_XX=0.313072;gnomADv4_1_AF_joint_XY=0.296785;gnomADv4_1_AN_grpmax_joint=67916;gnomADv4_1_AN_joint=151782;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=74148;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7417;gnomADv4_1_nhomalt_joint_XX=4016;gnomADv4_1_nhomalt_joint_XY=3401;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29687550 chr22_29687550_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=7.362;CADD_Rawscore=0.697746;CSQ=A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs2079339|3635|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1737+5949G>A|||||||rs2079339||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*9+4486G>A|||||||rs2079339||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1602+5949G>A|||||||rs2079339||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*9+4486G>A|||||||rs2079339||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*9+4486G>A|||||||rs2079339||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*24+4471G>A|||||||rs2079339||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29687550G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs2079339|3388|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29687550G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs2079339|3635|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-7202G>A|||||||rs2079339||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29687550G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-7202G>A|||||||rs2079339||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29687550G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*9+4486G>A|||||||rs2079339||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29687550G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1619+5949G>A|||||||rs2079339||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*9+4486G>A|||||||rs2079339||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29687550G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1231+5949G>A|||||||rs2079339||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||14/14|ENST00000713935.1:c.*10-670G>A|||||||rs2079339||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1737+5949G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1623+5949G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1614+5949G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1611+5949G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*9+4486G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1602+5949G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*24+4471G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*9+4486G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-7202G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1479+5949G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*24+4471G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-7202G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*9+4486G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs2079339|3375|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*9+4486G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*9+4486G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29687550G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs2079339|3635|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*9+4486G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*9+4486G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*9+4486G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs2079339|3375|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*24+4471G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-7202G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-7202G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1623+5949G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*24+4471G>A|||||||rs2079339||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29687550G>A|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|22|7|-32|7;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21364;gnomADv4_1_AC_joint_XX=10861;gnomADv4_1_AC_joint_XY=10503;gnomADv4_1_AF_grpmax_joint=0.1902;gnomADv4_1_AF_joint=0.14046;gnomADv4_1_AF_joint_XX=0.139738;gnomADv4_1_AF_joint_XY=0.141215;gnomADv4_1_AN_grpmax_joint=41488;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1640;gnomADv4_1_nhomalt_joint_XX=831;gnomADv4_1_nhomalt_joint_XY=809;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29688104 chr22_29688104_G_T G T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.31;CADD_Rawscore=-0.313707;CSQ=T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs9614029|4189|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1737+6503G>T|||||||rs9614029||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*9+5040G>T|||||||rs9614029||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1602+6503G>T|||||||rs9614029||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*9+5040G>T|||||||rs9614029||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*9+5040G>T|||||||rs9614029||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*24+5025G>T|||||||rs9614029||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29688104G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs9614029|3942|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||G|G||1||chr22:g.29688104G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs9614029|4189|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-6648G>T|||||||rs9614029||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29688104G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-6648G>T|||||||rs9614029||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29688104G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*9+5040G>T|||||||rs9614029||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29688104G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1619+6503G>T|||||||rs9614029||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*9+5040G>T|||||||rs9614029||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29688104G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1231+6503G>T|||||||rs9614029||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||14/14|ENST00000713935.1:c.*10-116G>T|||||||rs9614029||1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||G|G||1||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1737+6503G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1623+6503G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1614+6503G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1611+6503G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*9+5040G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1602+6503G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*24+5025G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*9+5040G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-6648G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1479+6503G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*24+5025G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-6648G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*9+5040G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs9614029|3929|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*9+5040G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*9+5040G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29688104G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs9614029|4189|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*9+5040G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*9+5040G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*9+5040G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs9614029|3929|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*24+5025G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-6648G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-6648G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1623+6503G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*24+5025G>T|||||||rs9614029||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29688104G>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|44|-21|14|37;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8359;gnomADv4_1_AC_joint_XX=4443;gnomADv4_1_AC_joint_XY=3916;gnomADv4_1_AF_grpmax_joint=0.0819364;gnomADv4_1_AF_joint=0.0549212;gnomADv4_1_AF_joint_XX=0.0571065;gnomADv4_1_AF_joint_XY=0.0526358;gnomADv4_1_AN_grpmax_joint=68004;gnomADv4_1_AN_joint=152200;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=297;gnomADv4_1_nhomalt_joint_XX=156;gnomADv4_1_nhomalt_joint_XY=141;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29688750 chr22_29688750_A_T A T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=6.396;CADD_Rawscore=0.593874;CSQ=T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000334961|protein_coding||||||||||rs737931|4835|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000335652|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1738-6002A>T|||||||rs737931||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*9+5686A>T|||||||rs737931||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1603-6002A>T|||||||rs737931||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*9+5686A>T|||||||rs737931||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*9+5686A>T|||||||rs737931||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*24+5671A>T|||||||rs737931||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29688750A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs737931|4588|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||A|A||1||chr22:g.29688750A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403999|protein_coding||||||||||rs737931|4835|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000384797|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-6002A>T|||||||rs737931||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29688750A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-6002A>T|||||||rs737931||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29688750A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*9+5686A>T|||||||rs737931||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29688750A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1620-6002A>T|||||||rs737931||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*9+5686A>T|||||||rs737931||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29688750A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1232-6002A>T|||||||rs737931||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29688750A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs737931|276|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||A|A||1||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1738-6002A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1624-6002A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1615-6002A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1612-6002A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*9+5686A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1603-6002A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*24+5671A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*9+5686A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-6002A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1480-6002A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*24+5671A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-6002A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*9+5686A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs737931|4575|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*9+5686A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*9+5686A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29688750A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181825.3|protein_coding||||||||||rs737931|4835|1||EntrezGene|HGNC:7773|||NP_861546.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*9+5686A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*9+5686A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*9+5686A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs737931|4575|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*24+5671A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-6002A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-6002A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1624-6002A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*24+5671A>T|||||||rs737931||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29688750A>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|-15|-18|-47|10;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000334961,ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000403999,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181825.3,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46273;gnomADv4_1_AC_joint_XX=24278;gnomADv4_1_AC_joint_XY=21995;gnomADv4_1_AF_grpmax_joint=0.364886;gnomADv4_1_AF_joint=0.304151;gnomADv4_1_AF_joint_XX=0.312313;gnomADv4_1_AF_joint_XY=0.295624;gnomADv4_1_AN_grpmax_joint=67972;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7399;gnomADv4_1_nhomalt_joint_XX=4003;gnomADv4_1_nhomalt_joint_XY=3396;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29688987 chr22_29688987_T_C T C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.111;CADD_Rawscore=0.285015;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1738-5765T>C|||||||rs5763422||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*10-5765T>C|||||||rs5763422||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1603-5765T>C|||||||rs5763422||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*10-5765T>C|||||||rs5763422||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*10-5765T>C|||||||rs5763422||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*25-5765T>C|||||||rs5763422||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29688987T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000403435|protein_coding||||||||||rs5763422|4825|1||HGNC|HGNC:7773|5||ENSP00000384029|P35240.250||UPI00001833C2|P35240-8||Ensembl||T|T||1||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-5765T>C|||||||rs5763422||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29688987T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-5765T>C|||||||rs5763422||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29688987T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*10-5765T>C|||||||rs5763422||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29688987T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1620-5765T>C|||||||rs5763422||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*10-5765T>C|||||||rs5763422||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29688987T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1232-5765T>C|||||||rs5763422||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29688987T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs5763422|513|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1738-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1624-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1615-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1612-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*10-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1603-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*25-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*10-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1480-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*25-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*10-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407066.1|protein_coding||||||||||rs5763422|4812|1||EntrezGene|HGNC:7773|||NP_001393995.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*10-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*10-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*10-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*10-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*10-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181831.3|protein_coding||||||||||rs5763422|4812|1||EntrezGene|HGNC:7773|||NP_861969.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*25-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1624-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*25-5765T>C|||||||rs5763422||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29688987T>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|10|47|10|-34;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000403435,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407066.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181831.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46211;gnomADv4_1_AC_joint_XX=24260;gnomADv4_1_AC_joint_XY=21951;gnomADv4_1_AF_grpmax_joint=0.365077;gnomADv4_1_AF_joint=0.304048;gnomADv4_1_AF_joint_XX=0.312122;gnomADv4_1_AF_joint_XY=0.295597;gnomADv4_1_AN_grpmax_joint=67920;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7390;gnomADv4_1_nhomalt_joint_XX=4000;gnomADv4_1_nhomalt_joint_XY=3390;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29689177 chr22_29689177_CAAA_C;chr22_29689177_CAA_C CAAA C 25 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=25;CADDIndel_PHREDscore=1.432;CADDIndel_Rawscore=0.075943;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1738-5554_1738-5552del|||||||rs140087||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||AAA|AAA||1|20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*10-5554_*10-5552del|||||||rs140087||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||AAA|AAA||1|20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1603-5554_1603-5552del|||||||rs140087||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||AAA|AAA||1|20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*10-5554_*10-5552del|||||||rs140087||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||AAA|AAA||1|20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*10-5554_*10-5552del|||||||rs140087||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||AAA|AAA||1|20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*25-5554_*25-5552del|||||||rs140087||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||AAA|AAA||1|20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-5554_448-5552del|||||||rs140087||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||AAA|AAA||1|20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-5554_*94-5552del|||||||rs140087||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||AAA|AAA||1|20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*10-5554_*10-5552del|||||||rs140087||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||AAA|AAA||1|20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1620-5554_*1620-5552del|||||||rs140087||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||AAA|AAA||1|20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*10-5554_*10-5552del|||||||rs140087||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||AAA|AAA||1|20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1232-5554_*1232-5552del|||||||rs140087||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||AAA|AAA||1|20|chr22:g.29689198_29689200del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs140087|704|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||AAA|AAA||1||chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1738-5554_1738-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1624-5554_1624-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1615-5554_1615-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1612-5554_1612-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*10-5554_*10-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1603-5554_1603-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*25-5554_*25-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*10-5554_*10-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-5554_1575-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1480-5554_1480-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*25-5554_*25-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-5554_1326-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*10-5554_*10-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*10-5554_*10-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*10-5554_*10-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||AAA|AAA|OK||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*10-5554_*10-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*10-5554_*10-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*10-5554_*10-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*25-5554_*25-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-5554_448-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-5554_1123-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1624-5554_1624-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*25-5554_*25-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||AAA|AAA|||20|chr22:g.29689198_29689200del|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-9|-8|-15|5;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32835;gnomADv4_1_AC_joint_XX=17901;gnomADv4_1_AC_joint_XY=14934;gnomADv4_1_AF_grpmax_joint=0.45505;gnomADv4_1_AF_joint=0.367389;gnomADv4_1_AF_joint_XX=0.369276;gnomADv4_1_AF_joint_XY=0.365152;gnomADv4_1_AN_grpmax_joint=22180;gnomADv4_1_AN_joint=89374;gnomADv4_1_AN_joint_XX=48476;gnomADv4_1_AN_joint_XY=40898;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4018;gnomADv4_1_nhomalt_joint_XX=2200;gnomADv4_1_nhomalt_joint_XY=1818;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29689177 chr22_29689177_CAAA_C;chr22_29689177_CAA_C CAA C 25 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=23;CADDIndel_PHREDscore=1.448;CADDIndel_Rawscore=0.078838;CSQ=-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1738-5553_1738-5552del|||||||rs140087||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||AA|AA||1|21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*10-5553_*10-5552del|||||||rs140087||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||AA|AA||1|21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1603-5553_1603-5552del|||||||rs140087||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||AA|AA||1|21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*10-5553_*10-5552del|||||||rs140087||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||AA|AA||1|21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*10-5553_*10-5552del|||||||rs140087||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||AA|AA||1|21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*25-5553_*25-5552del|||||||rs140087||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||AA|AA||1|21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-5553_448-5552del|||||||rs140087||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||AA|AA||1|21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-5553_*94-5552del|||||||rs140087||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||AA|AA||1|21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*10-5553_*10-5552del|||||||rs140087||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||AA|AA||1|21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1620-5553_*1620-5552del|||||||rs140087||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||AA|AA||1|21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*10-5553_*10-5552del|||||||rs140087||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||AA|AA||1|21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1232-5553_*1232-5552del|||||||rs140087||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||AA|AA||1|21|chr22:g.29689199_29689200del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs140087|704|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||AA|AA||1||chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1738-5553_1738-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1624-5553_1624-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1615-5553_1615-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1612-5553_1612-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*10-5553_*10-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1603-5553_1603-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*25-5553_*25-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*10-5553_*10-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-5553_1575-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1480-5553_1480-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*25-5553_*25-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-5553_1326-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*10-5553_*10-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*10-5553_*10-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*10-5553_*10-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||AA|AA|OK||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*10-5553_*10-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*10-5553_*10-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*10-5553_*10-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*25-5553_*25-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-5553_448-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-5553_1123-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1624-5553_1624-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||,-|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*25-5553_*25-5552del|||||||rs140087||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||AA|AA|||21|chr22:g.29689199_29689200del|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-15|25|-15|5;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25849;gnomADv4_1_AC_joint_XX=13994;gnomADv4_1_AC_joint_XY=11855;gnomADv4_1_AF_grpmax_joint=0.375758;gnomADv4_1_AF_joint=0.289845;gnomADv4_1_AF_joint_XX=0.289347;gnomADv4_1_AF_joint_XY=0.290436;gnomADv4_1_AN_grpmax_joint=2970;gnomADv4_1_AN_joint=89182;gnomADv4_1_AN_joint_XX=48364;gnomADv4_1_AN_joint_XY=40818;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2010;gnomADv4_1_nhomalt_joint_XX=1070;gnomADv4_1_nhomalt_joint_XY=940;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29689208 chr22_29689208_T_A T A 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.769;CADD_Rawscore=-0.085117;CSQ=A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1738-5544T>A|||||||rs5763423||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*10-5544T>A|||||||rs5763423||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1603-5544T>A|||||||rs5763423||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*10-5544T>A|||||||rs5763423||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*10-5544T>A|||||||rs5763423||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*25-5544T>A|||||||rs5763423||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-5544T>A|||||||rs5763423||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29689208T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-5544T>A|||||||rs5763423||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29689208T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*10-5544T>A|||||||rs5763423||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29689208T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1620-5544T>A|||||||rs5763423||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*10-5544T>A|||||||rs5763423||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29689208T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1232-5544T>A|||||||rs5763423||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29689208T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs5763423|734|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1738-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1624-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1615-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1612-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*10-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1603-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*25-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*10-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1480-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*25-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*10-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*10-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*10-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*10-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*10-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*10-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*25-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1624-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||,A|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*25-5544T>A|||||||rs5763423||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29689208T>A|||||||||||||;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|-6|-2|26|-2;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44627;gnomADv4_1_AC_joint_XX=23686;gnomADv4_1_AC_joint_XY=20941;gnomADv4_1_AF_grpmax_joint=0.369679;gnomADv4_1_AF_joint=0.309987;gnomADv4_1_AF_joint_XX=0.317413;gnomADv4_1_AF_joint_XY=0.301996;gnomADv4_1_AN_grpmax_joint=66666;gnomADv4_1_AN_joint=143964;gnomADv4_1_AN_joint_XX=74622;gnomADv4_1_AN_joint_XY=69342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7187;gnomADv4_1_nhomalt_joint_XX=3923;gnomADv4_1_nhomalt_joint_XY=3264;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29689666 chr22_29689666_C_G C G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=15.76;CADD_Rawscore=1.79323;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1738-5086C>G|||||||rs2283863||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*10-5086C>G|||||||rs2283863||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1603-5086C>G|||||||rs2283863||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*10-5086C>G|||||||rs2283863||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*10-5086C>G|||||||rs2283863||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*25-5086C>G|||||||rs2283863||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-5086C>G|||||||rs2283863||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29689666C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-5086C>G|||||||rs2283863||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29689666C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*10-5086C>G|||||||rs2283863||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29689666C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1620-5086C>G|||||||rs2283863||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*10-5086C>G|||||||rs2283863||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29689666C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1232-5086C>G|||||||rs2283863||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29689666C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs2283863|1192|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1738-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1624-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1615-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1612-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*10-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1603-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*25-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*10-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1480-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*25-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*10-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*10-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*10-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*10-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*10-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*10-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*25-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1624-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*25-5086C>G|||||||rs2283863||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29689666C>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-18|-10|24|-10;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46193;gnomADv4_1_AC_joint_XX=24236;gnomADv4_1_AC_joint_XY=21957;gnomADv4_1_AF_grpmax_joint=0.36483;gnomADv4_1_AF_joint=0.304069;gnomADv4_1_AF_joint_XX=0.312054;gnomADv4_1_AF_joint_XY=0.295717;gnomADv4_1_AN_grpmax_joint=67944;gnomADv4_1_AN_joint=151916;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7381;gnomADv4_1_nhomalt_joint_XX=3990;gnomADv4_1_nhomalt_joint_XY=3391;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29690155 chr22_29690155_C_T C T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.679;CADD_Rawscore=-0.116635;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1738-4597C>T|||||||rs756053||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*10-4597C>T|||||||rs756053||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1603-4597C>T|||||||rs756053||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*10-4597C>T|||||||rs756053||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*10-4597C>T|||||||rs756053||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*25-4597C>T|||||||rs756053||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-4597C>T|||||||rs756053||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29690155C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-4597C>T|||||||rs756053||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29690155C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*10-4597C>T|||||||rs756053||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29690155C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1620-4597C>T|||||||rs756053||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*10-4597C>T|||||||rs756053||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29690155C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1232-4597C>T|||||||rs756053||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29690155C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs756053|1681|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1738-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1624-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1615-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1612-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*10-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1603-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*25-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*10-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1480-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*25-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*10-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*10-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*10-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*10-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*10-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*10-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*25-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1624-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*25-4597C>T|||||||rs756053||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29690155C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4XJP|enhancer||||||||||rs756053|||||||||||||||||||||chr22:g.29690155C>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|24|25|24|-6;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1,ENSR22_C4XJP;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,.;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111907;gnomADv4_1_AC_joint_XX=57688;gnomADv4_1_AC_joint_XY=54219;gnomADv4_1_AF_grpmax_joint=0.911094;gnomADv4_1_AF_joint=0.735437;gnomADv4_1_AF_joint_XX=0.741605;gnomADv4_1_AF_joint_XY=0.728985;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152164;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41980;gnomADv4_1_nhomalt_joint_XX=21784;gnomADv4_1_nhomalt_joint_XY=20196;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29690857 chr22_29690857_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=4.959;CADD_Rawscore=0.452019;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1738-3895C>T|||||||rs9625852||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*10-3895C>T|||||||rs9625852||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1603-3895C>T|||||||rs9625852||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*10-3895C>T|||||||rs9625852||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*10-3895C>T|||||||rs9625852||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*25-3895C>T|||||||rs9625852||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-3895C>T|||||||rs9625852||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29690857C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-3895C>T|||||||rs9625852||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29690857C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*10-3895C>T|||||||rs9625852||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29690857C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1620-3895C>T|||||||rs9625852||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*10-3895C>T|||||||rs9625852||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29690857C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1232-3895C>T|||||||rs9625852||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29690857C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs9625852|2383|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1738-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1624-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1615-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1612-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*10-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1603-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*25-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*10-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1480-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*25-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*10-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*10-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*10-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*10-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*10-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*10-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*25-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1624-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*25-3895C>T|||||||rs9625852||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29690857C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4XJP|enhancer||||||||||rs9625852|||||||||||||||||||||chr22:g.29690857C>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|-2|-42|-2|6;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1,ENSR22_C4XJP;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,.;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14631;gnomADv4_1_AC_joint_XX=7276;gnomADv4_1_AC_joint_XY=7355;gnomADv4_1_AF_grpmax_joint=0.168742;gnomADv4_1_AF_joint=0.0961263;gnomADv4_1_AF_joint_XX=0.0935098;gnomADv4_1_AF_joint_XY=0.0988628;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152206;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=877;gnomADv4_1_nhomalt_joint_XX=434;gnomADv4_1_nhomalt_joint_XY=443;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29692050 chr22_29692050_T_G T G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.365;CADD_Rawscore=-0.272549;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1738-2702T>G|||||||rs2267151||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*10-2702T>G|||||||rs2267151||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1603-2702T>G|||||||rs2267151||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*10-2702T>G|||||||rs2267151||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*10-2702T>G|||||||rs2267151||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*25-2702T>G|||||||rs2267151||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-2702T>G|||||||rs2267151||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29692050T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-2702T>G|||||||rs2267151||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29692050T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*10-2702T>G|||||||rs2267151||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29692050T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1620-2702T>G|||||||rs2267151||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*10-2702T>G|||||||rs2267151||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29692050T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1232-2702T>G|||||||rs2267151||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29692050T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs2267151|3576|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1738-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1624-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1615-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1612-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*10-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1603-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*25-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*10-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1480-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*25-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*10-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*10-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*10-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*10-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*10-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*10-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*25-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1624-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*25-2702T>G|||||||rs2267151||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29692050T>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-11|4|30|4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46277;gnomADv4_1_AC_joint_XX=24285;gnomADv4_1_AC_joint_XY=21992;gnomADv4_1_AF_grpmax_joint=0.365009;gnomADv4_1_AF_joint=0.304338;gnomADv4_1_AF_joint_XX=0.312363;gnomADv4_1_AF_joint_XY=0.295941;gnomADv4_1_AN_grpmax_joint=67938;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7409;gnomADv4_1_nhomalt_joint_XX=4005;gnomADv4_1_nhomalt_joint_XY=3404;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29692194 chr22_29692194_C_T C T 43 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.989;CADD_Rawscore=-0.020774;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1738-2558C>T|||||||rs1476757||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*10-2558C>T|||||||rs1476757||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1603-2558C>T|||||||rs1476757||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*10-2558C>T|||||||rs1476757||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*10-2558C>T|||||||rs1476757||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*25-2558C>T|||||||rs1476757||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-2558C>T|||||||rs1476757||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29692194C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-2558C>T|||||||rs1476757||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29692194C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*10-2558C>T|||||||rs1476757||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29692194C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1620-2558C>T|||||||rs1476757||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*10-2558C>T|||||||rs1476757||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29692194C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1232-2558C>T|||||||rs1476757||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29692194C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs1476757|3720|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1738-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1624-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1615-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1612-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*10-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1603-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*25-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*10-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1480-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*25-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*10-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*10-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*10-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*10-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*10-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*10-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*25-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1624-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*25-2558C>T|||||||rs1476757||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29692194C>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|18|30|-14|30;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46208;gnomADv4_1_AC_joint_XX=24251;gnomADv4_1_AC_joint_XY=21957;gnomADv4_1_AF_grpmax_joint=0.364771;gnomADv4_1_AF_joint=0.303756;gnomADv4_1_AF_joint_XX=0.311838;gnomADv4_1_AF_joint_XY=0.295304;gnomADv4_1_AN_grpmax_joint=67966;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7387;gnomADv4_1_nhomalt_joint_XX=3998;gnomADv4_1_nhomalt_joint_XY=3389;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29692268 chr22_29692268_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=9.757;CADD_Rawscore=0.949523;CSQ=T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1738-2484C>T|||||||rs1009147||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*10-2484C>T|||||||rs1009147||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1603-2484C>T|||||||rs1009147||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*10-2484C>T|||||||rs1009147||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*10-2484C>T|||||||rs1009147||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*25-2484C>T|||||||rs1009147||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-2484C>T|||||||rs1009147||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29692268C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-2484C>T|||||||rs1009147||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29692268C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*10-2484C>T|||||||rs1009147||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29692268C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1620-2484C>T|||||||rs1009147||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*10-2484C>T|||||||rs1009147||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29692268C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1232-2484C>T|||||||rs1009147||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29692268C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs1009147|3794|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||C|C||1||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1738-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1624-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1615-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1612-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*10-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1603-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*25-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*10-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1480-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*25-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*10-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*10-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*10-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*10-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*10-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*10-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*25-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1624-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||,T|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*25-2484C>T|||||||rs1009147||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29692268C>T|||||||||||||;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|15|50|6|49;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21468;gnomADv4_1_AC_joint_XX=10913;gnomADv4_1_AC_joint_XY=10555;gnomADv4_1_AF_grpmax_joint=0.19117;gnomADv4_1_AF_joint=0.141044;gnomADv4_1_AF_joint_XX=0.14032;gnomADv4_1_AF_joint_XY=0.1418;gnomADv4_1_AN_grpmax_joint=41518;gnomADv4_1_AN_joint=152208;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1657;gnomADv4_1_nhomalt_joint_XX=839;gnomADv4_1_nhomalt_joint_XY=818;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29692682 chr22_29692682_T_C T C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=8.402;CADD_Rawscore=0.812352;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1738-2070T>C|||||||rs2267152||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*10-2070T>C|||||||rs2267152||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1603-2070T>C|||||||rs2267152||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*10-2070T>C|||||||rs2267152||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*10-2070T>C|||||||rs2267152||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*25-2070T>C|||||||rs2267152||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-2070T>C|||||||rs2267152||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29692682T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-2070T>C|||||||rs2267152||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29692682T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*10-2070T>C|||||||rs2267152||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29692682T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1620-2070T>C|||||||rs2267152||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*10-2070T>C|||||||rs2267152||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29692682T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1232-2070T>C|||||||rs2267152||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29692682T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000713935|protein_coding||||||||||rs2267152|4208|1||HGNC|HGNC:7773||CCDS13865.1|ENSP00000519232|||UPI0000072477|||Ensembl||T|T||1||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1738-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1624-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1615-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1612-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*10-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1603-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*25-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*10-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1480-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*25-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*10-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*10-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*10-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*10-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*10-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*10-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*25-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1624-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*25-2070T>C|||||||rs2267152||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29692682T>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-30|27|48|-35;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,ENST00000713935,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20970;gnomADv4_1_AC_joint_XX=10954;gnomADv4_1_AC_joint_XY=10016;gnomADv4_1_AF_grpmax_joint=0.246408;gnomADv4_1_AF_joint=0.137768;gnomADv4_1_AF_joint_XX=0.140804;gnomADv4_1_AF_joint_XY=0.134595;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152212;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1748;gnomADv4_1_nhomalt_joint_XX=942;gnomADv4_1_nhomalt_joint_XY=806;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29693522 chr22_29693522_C_G C G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.219;CADD_Rawscore=-0.403025;CSQ=G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1738-1230C>G|||||||rs2283864||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*10-1230C>G|||||||rs2283864||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1603-1230C>G|||||||rs2283864||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*10-1230C>G|||||||rs2283864||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*10-1230C>G|||||||rs2283864||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*25-1230C>G|||||||rs2283864||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-1230C>G|||||||rs2283864||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29693522C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-1230C>G|||||||rs2283864||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29693522C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*10-1230C>G|||||||rs2283864||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29693522C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1620-1230C>G|||||||rs2283864||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*10-1230C>G|||||||rs2283864||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29693522C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1232-1230C>G|||||||rs2283864||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1738-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1624-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1615-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1612-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*10-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1603-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*25-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*10-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1480-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*25-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*10-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*10-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*10-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*10-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*10-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*10-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*25-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1624-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||,G|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*25-1230C>G|||||||rs2283864||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29693522C>G|||||||||||||;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-13|20|-5|20;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46192;gnomADv4_1_AC_joint_XX=24233;gnomADv4_1_AC_joint_XY=21959;gnomADv4_1_AF_grpmax_joint=0.364772;gnomADv4_1_AF_joint=0.303739;gnomADv4_1_AF_joint_XX=0.311735;gnomADv4_1_AF_joint_XY=0.295378;gnomADv4_1_AN_grpmax_joint=67974;gnomADv4_1_AN_joint=152078;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7378;gnomADv4_1_nhomalt_joint_XX=3989;gnomADv4_1_nhomalt_joint_XY=3389;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29693680 chr22_29693680_G_C G C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.504;CADD_Rawscore=-0.19118;CSQ=C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||15/15|ENST00000338641.10:c.1738-1072G>C|||||||rs2158619||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||14/14|ENST00000353887.8:c.*10-1072G>C|||||||rs2158619||1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||14/14|ENST00000361166.10:c.1603-1072G>C|||||||rs2158619||1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||15/15|ENST00000361452.8:c.*10-1072G>C|||||||rs2158619||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||15/15|ENST00000361676.8:c.*10-1072G>C|||||||rs2158619||1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||16/16|ENST00000397789.3:c.*25-1072G>C|||||||rs2158619||1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||4/4|ENST00000413209.6:c.448-1072G>C|||||||rs2158619||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29693680G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||7/7|ENST00000432151.5:c.*94-1072G>C|||||||rs2158619||1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29693680G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||16/17|ENST00000672461.1:c.*10-1072G>C|||||||rs2158619||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29693680G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||16/16|ENST00000672805.1:c.*1620-1072G>C|||||||rs2158619||1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||16/16|ENST00000672896.1:c.*10-1072G>C|||||||rs2158619||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29693680G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||16/16|ENST00000673312.2:c.*1232-1072G>C|||||||rs2158619||1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||15/15|NM_000268.4:c.1738-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||16/16|NM_001407053.1:c.1624-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||14/14|NM_001407054.1:c.1615-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||14/14|NM_001407055.1:c.1612-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||17/17|NM_001407056.1:c.*10-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||14/14|NM_001407057.1:c.1603-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||15/15|NM_001407058.1:c.*25-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||15/15|NM_001407059.1:c.*10-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||14/14|NM_001407060.1:c.1575-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||13/13|NM_001407062.1:c.1480-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||14/14|NM_001407063.1:c.*25-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||12/12|NM_001407064.1:c.1326-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||17/17|NM_001407065.1:c.*10-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||16/16|NM_001407067.1:c.*10-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||16/16|NM_016418.5:c.*10-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||15/15|NM_181828.3:c.*10-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||15/15|NM_181829.3:c.*10-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||14/14|NM_181830.3:c.*10-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||16/16|NM_181832.3:c.*25-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||4/4|NM_181833.3:c.448-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||7/7|NR_176267.1:n.1123-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||15/15|XM_017028809.3:c.1624-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||,C|intron_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||16/16|XM_047441386.1:c.*25-1072G>C|||||||rs2158619||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29693680G>C|||||||||||||;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|-44|1|33|1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=112186;gnomADv4_1_AC_joint_XX=57848;gnomADv4_1_AC_joint_XY=54338;gnomADv4_1_AF_grpmax_joint=0.910604;gnomADv4_1_AF_joint=0.737493;gnomADv4_1_AF_joint_XX=0.743758;gnomADv4_1_AF_joint_XY=0.730939;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=42249;gnomADv4_1_nhomalt_joint_XX=21930;gnomADv4_1_nhomalt_joint_XY=20319;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29695156 chr22_29695156_T_C T C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.449;CADD_Rawscore=-0.220328;CSQ=C|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding|16/16||ENST00000338641.10:c.*354T>C||2508|||||rs1008515||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29695156T>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs1008515|345|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29695156T>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs1008515|97|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding|16/16||ENST00000361452.8:c.*414T>C||2446|||||rs1008515||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29695156T>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs1008515|345|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29695156T>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs1008515|345|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding|5/5||ENST00000413209.6:c.*354T>C||1295|||||rs1008515||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29695156T>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs1008515|211|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay|17/18||ENST00000672461.1:c.*414T>C||2583|||||rs1008515||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29695156T>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs1008515|211|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding|17/17||ENST00000672896.1:c.*414T>C||2553|||||rs1008515||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29695156T>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs1008515|98|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding|16/16||NM_000268.4:c.*354T>C||2508|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding|17/17||NM_001407053.1:c.*354T>C||2624|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding|15/15||NM_001407054.1:c.*354T>C||2385|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding|15/15||NM_001407055.1:c.*354T>C||2382|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding|18/18||NM_001407056.1:c.*414T>C||2669|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding|15/15||NM_001407057.1:c.*354T>C||2373|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding|16/16||NM_001407058.1:c.*429T>C||2445|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding|16/16||NM_001407059.1:c.*414T>C||2418|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding|15/15||NM_001407060.1:c.*347T>C||2345|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding|14/14||NM_001407062.1:c.*354T>C||2250|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding|15/15||NM_001407063.1:c.*429T>C||2319|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding|13/13||NM_001407064.1:c.*347T>C||2096|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding|18/18||NM_001407065.1:c.*414T>C||2659|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding|17/17||NM_001407067.1:c.*414T>C||2578|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding|17/17||NM_016418.5:c.*414T>C||2630|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding|16/16||NM_181828.3:c.*414T>C||2427|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding|16/16||NM_181829.3:c.*414T>C||2430|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding|15/15||NM_181830.3:c.*414T>C||2304|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding|17/17||NM_181832.3:c.*429T>C||2568|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding|5/5||NM_181833.3:c.*354T>C||1218|||||rs1008515||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA|8/8||NR_176267.1:n.1527T>C||1527|||||rs1008515||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding|16/16||XM_017028809.3:c.*354T>C||2173|||||rs1008515||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding|17/17||XM_047441386.1:c.*429T>C||2233|||||rs1008515||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29695156T>C|benign||1||||||||||;ClinVar_CLNDN=not_provided|Neurofibromatosis&_type_2;ClinVar_CLNHGVS=NC_000022.11:g.29695156T>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=341085;SpliceAI=C|NF2|0.01|0.00|0.00|0.00|-32|6|-32|6;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=113403;gnomADv4_1_AC_joint_XX=55249;gnomADv4_1_AC_joint_XY=58154;gnomADv4_1_AF_grpmax_joint=0.453043;gnomADv4_1_AF_joint=0.247815;gnomADv4_1_AF_joint_XX=0.246089;gnomADv4_1_AF_joint_XY=0.249477;gnomADv4_1_AN_grpmax_joint=26386;gnomADv4_1_AN_joint=457612;gnomADv4_1_AN_joint_XX=224508;gnomADv4_1_AN_joint_XY=233104;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15200;gnomADv4_1_nhomalt_joint_XX=7344;gnomADv4_1_nhomalt_joint_XY=7856;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29695776 chr22_29695776_C_T C T 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=7.589;CADD_Rawscore=0.722875;CSQ=T|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding|16/16||ENST00000338641.10:c.*974C>T||3128|||||rs8140096||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29695776C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs8140096|965|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29695776C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs8140096|717|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding|16/16||ENST00000361452.8:c.*1034C>T||3066|||||rs8140096||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29695776C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs8140096|965|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29695776C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs8140096|965|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding|5/5||ENST00000413209.6:c.*974C>T||1915|||||rs8140096||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29695776C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs8140096|831|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29695776C>T|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||17/17|ENST00000672461.1:c.*501+533C>T|||||||rs8140096||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29695776C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs8140096|831|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding|17/17||ENST00000672896.1:c.*1034C>T||3173|||||rs8140096||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29695776C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs8140096|718|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding|16/16||NM_000268.4:c.*974C>T||3128|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding|17/17||NM_001407053.1:c.*974C>T||3244|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding|15/15||NM_001407054.1:c.*974C>T||3005|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding|15/15||NM_001407055.1:c.*974C>T||3002|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding|18/18||NM_001407056.1:c.*1034C>T||3289|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding|15/15||NM_001407057.1:c.*974C>T||2993|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding|16/16||NM_001407058.1:c.*1049C>T||3065|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding|16/16||NM_001407059.1:c.*1034C>T||3038|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding|15/15||NM_001407060.1:c.*967C>T||2965|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding|14/14||NM_001407062.1:c.*974C>T||2870|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding|15/15||NM_001407063.1:c.*1049C>T||2939|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding|13/13||NM_001407064.1:c.*967C>T||2716|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding|18/18||NM_001407065.1:c.*1034C>T||3279|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding|17/17||NM_001407067.1:c.*1034C>T||3198|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding|17/17||NM_016418.5:c.*1034C>T||3250|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding|16/16||NM_181828.3:c.*1034C>T||3047|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding|16/16||NM_181829.3:c.*1034C>T||3050|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding|15/15||NM_181830.3:c.*1034C>T||2924|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding|17/17||NM_181832.3:c.*1049C>T||3188|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding|5/5||NM_181833.3:c.*974C>T||1838|||||rs8140096||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA|8/8||NR_176267.1:n.2147C>T||2147|||||rs8140096||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding|16/16||XM_017028809.3:c.*974C>T||2793|||||rs8140096||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding|17/17||XM_047441386.1:c.*1049C>T||2853|||||rs8140096||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29695776C>T|benign||1||||||||||;ClinVar_CLNDN=not_provided|Neurofibromatosis&_type_2;ClinVar_CLNHGVS=NC_000022.11:g.29695776C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=341096;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|12|-45|-12|15;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13670;gnomADv4_1_AC_joint_XX=7226;gnomADv4_1_AC_joint_XY=6444;gnomADv4_1_AF_grpmax_joint=0.0818131;gnomADv4_1_AF_joint=0.0584243;gnomADv4_1_AF_joint_XX=0.0593258;gnomADv4_1_AF_joint_XY=0.0574454;gnomADv4_1_AN_grpmax_joint=118514;gnomADv4_1_AN_joint=233978;gnomADv4_1_AN_joint_XX=121802;gnomADv4_1_AN_joint_XY=112176;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=512;gnomADv4_1_nhomalt_joint_XX=263;gnomADv4_1_nhomalt_joint_XY=249;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29696010 chr22_29696010_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.556;CADD_Rawscore=-0.166803;CSQ=T|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding|16/16||ENST00000338641.10:c.*1208C>T||3362|||||rs2530680||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29696010C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs2530680|1199|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29696010C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs2530680|951|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding|16/16||ENST00000361452.8:c.*1268C>T||3300|||||rs2530680||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29696010C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs2530680|1199|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29696010C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs2530680|1199|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding|5/5||ENST00000413209.6:c.*1208C>T||2149|||||rs2530680||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29696010C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs2530680|1065|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29696010C>T|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||17/17|ENST00000672461.1:c.*501+767C>T|||||||rs2530680||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29696010C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs2530680|1065|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding|17/17||ENST00000672896.1:c.*1268C>T||3407|||||rs2530680||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29696010C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs2530680|952|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding|16/16||NM_000268.4:c.*1208C>T||3362|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding|17/17||NM_001407053.1:c.*1208C>T||3478|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding|15/15||NM_001407054.1:c.*1208C>T||3239|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding|15/15||NM_001407055.1:c.*1208C>T||3236|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding|18/18||NM_001407056.1:c.*1268C>T||3523|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding|15/15||NM_001407057.1:c.*1208C>T||3227|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding|16/16||NM_001407058.1:c.*1283C>T||3299|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding|16/16||NM_001407059.1:c.*1268C>T||3272|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding|15/15||NM_001407060.1:c.*1201C>T||3199|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding|14/14||NM_001407062.1:c.*1208C>T||3104|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding|15/15||NM_001407063.1:c.*1283C>T||3173|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding|13/13||NM_001407064.1:c.*1201C>T||2950|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding|18/18||NM_001407065.1:c.*1268C>T||3513|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding|17/17||NM_001407067.1:c.*1268C>T||3432|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding|17/17||NM_016418.5:c.*1268C>T||3484|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding|16/16||NM_181828.3:c.*1268C>T||3281|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding|16/16||NM_181829.3:c.*1268C>T||3284|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding|15/15||NM_181830.3:c.*1268C>T||3158|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding|17/17||NM_181832.3:c.*1283C>T||3422|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding|5/5||NM_181833.3:c.*1208C>T||2072|||||rs2530680||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA|8/8||NR_176267.1:n.2381C>T||2381|||||rs2530680||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding|16/16||XM_017028809.3:c.*1208C>T||3027|||||rs2530680||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding|17/17||XM_047441386.1:c.*1283C>T||3087|||||rs2530680||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29696010C>T|benign||1||||||||||;ClinVar_CLNDN=Neurofibromatosis&_type_2|not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29696010C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=341101;SpliceAI=T|NF2|0.00|0.00|0.00|0.00|-39|43|-2|30;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56398;gnomADv4_1_AC_joint_XX=29252;gnomADv4_1_AC_joint_XY=27146;gnomADv4_1_AF_grpmax_joint=0.452174;gnomADv4_1_AF_joint=0.242633;gnomADv4_1_AF_joint_XX=0.241337;gnomADv4_1_AF_joint_XY=0.244044;gnomADv4_1_AN_grpmax_joint=16602;gnomADv4_1_AN_joint=232442;gnomADv4_1_AN_joint_XX=121208;gnomADv4_1_AN_joint_XY=111234;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7495;gnomADv4_1_nhomalt_joint_XX=3895;gnomADv4_1_nhomalt_joint_XY=3600;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29696594 chr22_29696594_G_A G A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.079;CADD_Rawscore=-0.674561;CSQ=A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding|16/16||ENST00000338641.10:c.*1792G>A||3946|||||rs17462054||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29696594G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs17462054|1783|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29696594G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs17462054|1535|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding|16/16||ENST00000361452.8:c.*1852G>A||3884|||||rs17462054||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29696594G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs17462054|1783|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29696594G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs17462054|1783|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding|5/5||ENST00000413209.6:c.*1792G>A||2733|||||rs17462054||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29696594G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs17462054|1649|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29696594G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||17/17|ENST00000672461.1:c.*502-667G>A|||||||rs17462054||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29696594G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs17462054|1649|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding|17/17||ENST00000672896.1:c.*1852G>A||3991|||||rs17462054||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29696594G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs17462054|1536|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding|16/16||NM_000268.4:c.*1792G>A||3946|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding|17/17||NM_001407053.1:c.*1792G>A||4062|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding|15/15||NM_001407054.1:c.*1792G>A||3823|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding|15/15||NM_001407055.1:c.*1792G>A||3820|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding|18/18||NM_001407056.1:c.*1852G>A||4107|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding|15/15||NM_001407057.1:c.*1792G>A||3811|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding|16/16||NM_001407058.1:c.*1867G>A||3883|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding|16/16||NM_001407059.1:c.*1852G>A||3856|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding|15/15||NM_001407060.1:c.*1785G>A||3783|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding|14/14||NM_001407062.1:c.*1792G>A||3688|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding|15/15||NM_001407063.1:c.*1867G>A||3757|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding|13/13||NM_001407064.1:c.*1785G>A||3534|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding|18/18||NM_001407065.1:c.*1852G>A||4097|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding|17/17||NM_001407067.1:c.*1852G>A||4016|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding|17/17||NM_016418.5:c.*1852G>A||4068|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding|16/16||NM_181828.3:c.*1852G>A||3865|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding|16/16||NM_181829.3:c.*1852G>A||3868|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding|15/15||NM_181830.3:c.*1852G>A||3742|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding|17/17||NM_181832.3:c.*1867G>A||4006|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding|5/5||NM_181833.3:c.*1792G>A||2656|||||rs17462054||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA|8/8||NR_176267.1:n.2965G>A||2965|||||rs17462054||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding|16/16||XM_017028809.3:c.*1792G>A||3611|||||rs17462054||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding|17/17||XM_047441386.1:c.*1867G>A||3671|||||rs17462054||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29696594G>A|benign||1||||||||||;ClinVar_CLNDN=Neurofibromatosis&_type_2|not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29696594G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=341121;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|2|-17|-4|-17;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20731;gnomADv4_1_AC_joint_XX=10554;gnomADv4_1_AC_joint_XY=10177;gnomADv4_1_AF_grpmax_joint=0.168287;gnomADv4_1_AF_joint=0.0967933;gnomADv4_1_AF_joint_XX=0.0949425;gnomADv4_1_AF_joint_XY=0.0987905;gnomADv4_1_AN_grpmax_joint=5348;gnomADv4_1_AN_joint=214178;gnomADv4_1_AN_joint_XX=111162;gnomADv4_1_AN_joint_XY=103016;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1248;gnomADv4_1_nhomalt_joint_XX=623;gnomADv4_1_nhomalt_joint_XY=625;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29696706 chr22_29696706_A_G A G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=4.742;CADD_Rawscore=0.431977;CSQ=G|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding|16/16||ENST00000338641.10:c.*1904A>G||4058|||||rs73390944||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29696706A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs73390944|1895|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||A|A||1||chr22:g.29696706A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs73390944|1647|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding|16/16||ENST00000361452.8:c.*1964A>G||3996|||||rs73390944||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29696706A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs73390944|1895|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||A|A||1||chr22:g.29696706A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs73390944|1895|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding|5/5||ENST00000413209.6:c.*1904A>G||2845|||||rs73390944||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29696706A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs73390944|1761|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||A|A||1||chr22:g.29696706A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||17/17|ENST00000672461.1:c.*502-555A>G|||||||rs73390944||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29696706A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs73390944|1761|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||A|A||1||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding|17/17||ENST00000672896.1:c.*1964A>G||4103|||||rs73390944||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29696706A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs73390944|1648|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding|16/16||NM_000268.4:c.*1904A>G||4058|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding|17/17||NM_001407053.1:c.*1904A>G||4174|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding|15/15||NM_001407054.1:c.*1904A>G||3935|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding|15/15||NM_001407055.1:c.*1904A>G||3932|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding|18/18||NM_001407056.1:c.*1964A>G||4219|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding|15/15||NM_001407057.1:c.*1904A>G||3923|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding|16/16||NM_001407058.1:c.*1979A>G||3995|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding|16/16||NM_001407059.1:c.*1964A>G||3968|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding|15/15||NM_001407060.1:c.*1897A>G||3895|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding|14/14||NM_001407062.1:c.*1904A>G||3800|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding|15/15||NM_001407063.1:c.*1979A>G||3869|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding|13/13||NM_001407064.1:c.*1897A>G||3646|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding|18/18||NM_001407065.1:c.*1964A>G||4209|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding|17/17||NM_001407067.1:c.*1964A>G||4128|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding|17/17||NM_016418.5:c.*1964A>G||4180|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding|16/16||NM_181828.3:c.*1964A>G||3977|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding|16/16||NM_181829.3:c.*1964A>G||3980|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding|15/15||NM_181830.3:c.*1964A>G||3854|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding|17/17||NM_181832.3:c.*1979A>G||4118|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding|5/5||NM_181833.3:c.*1904A>G||2768|||||rs73390944||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA|8/8||NR_176267.1:n.3077A>G||3077|||||rs73390944||1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding|16/16||XM_017028809.3:c.*1904A>G||3723|||||rs73390944||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding|17/17||XM_047441386.1:c.*1979A>G||3783|||||rs73390944||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29696706A>G|benign||1||||||||||;ClinVar_CLNDN=Neurofibromatosis&_type_2|not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29696706A>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=341124;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-5|25|-11|-7;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29615;gnomADv4_1_AC_joint_XX=15324;gnomADv4_1_AC_joint_XY=14291;gnomADv4_1_AF_grpmax_joint=0.193418;gnomADv4_1_AF_joint=0.138504;gnomADv4_1_AF_joint_XX=0.13786;gnomADv4_1_AF_joint_XY=0.139202;gnomADv4_1_AN_grpmax_joint=44060;gnomADv4_1_AN_joint=213820;gnomADv4_1_AN_joint_XX=111156;gnomADv4_1_AN_joint_XY=102664;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2248;gnomADv4_1_nhomalt_joint_XX=1157;gnomADv4_1_nhomalt_joint_XY=1091;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29696824 chr22_29696824_G_GT G GT 46 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.684;CADDIndel_Rawscore=-0.114698;CSQ=T|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding|16/16||ENST00000338641.10:c.*2032dup||4176-4177|||||rs11442202||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1|10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs11442202|2013|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1||chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs11442202|1765|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1||chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding|16/16||ENST00000361452.8:c.*2092dup||4114-4115|||||rs11442202||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1|10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs11442202|2013|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1||chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs11442202|2013|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1||chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding|5/5||ENST00000413209.6:c.*2032dup||2963-2964|||||rs11442202||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1|10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs11442202|1879|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1||chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||17/17|ENST00000672461.1:c.*502-427dup|||||||rs11442202||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs11442202|1879|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1||chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding|17/17||ENST00000672896.1:c.*2092dup||4221-4222|||||rs11442202||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1|10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs11442202|1766|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1||chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding|16/16||NM_000268.4:c.*2032dup||4176-4177|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding|17/17||NM_001407053.1:c.*2032dup||4292-4293|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding|15/15||NM_001407054.1:c.*2032dup||4053-4054|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding|15/15||NM_001407055.1:c.*2032dup||4050-4051|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding|18/18||NM_001407056.1:c.*2092dup||4337-4338|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding|15/15||NM_001407057.1:c.*2032dup||4041-4042|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding|16/16||NM_001407058.1:c.*2107dup||4113-4114|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding|16/16||NM_001407059.1:c.*2092dup||4086-4087|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding|15/15||NM_001407060.1:c.*2025dup||4013-4014|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding|14/14||NM_001407062.1:c.*2032dup||3918-3919|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding|15/15||NM_001407063.1:c.*2107dup||3987-3988|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding|13/13||NM_001407064.1:c.*2025dup||3764-3765|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding|18/18||NM_001407065.1:c.*2092dup||4327-4328|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding|17/17||NM_001407067.1:c.*2092dup||4246-4247|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding|17/17||NM_016418.5:c.*2092dup||4298-4299|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding|16/16||NM_181828.3:c.*2092dup||4095-4096|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding|16/16||NM_181829.3:c.*2092dup||4098-4099|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding|15/15||NM_181830.3:c.*2092dup||3972-3973|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding|17/17||NM_181832.3:c.*2107dup||4236-4237|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding|5/5||NM_181833.3:c.*2032dup||2886-2887|||||rs11442202||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA|8/8||NR_176267.1:n.3205dup||3195-3196|||||rs11442202||1||EntrezGene|HGNC:7773|||||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding|16/16||XM_017028809.3:c.*2032dup||3841-3842|||||rs11442202||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||,T|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding|17/17||XM_047441386.1:c.*2107dup||3901-3902|||||rs11442202||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||||||10|chr22:g.29696834dup|uncertain_significance&benign||1||||||||||;ClinVar_CLNDN=Neurofibromatosis&_type_2;ClinVar_CLNHGVS=NC_000022.11:g.29696834dup;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=341131;SpliceAI=GT|NF2|0.00|0.00|0.00|0.00|38|14|-49|14;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=114845;gnomADv4_1_AC_joint_XX=60424;gnomADv4_1_AC_joint_XY=54421;gnomADv4_1_AF_grpmax_joint=0.880168;gnomADv4_1_AF_joint=0.696495;gnomADv4_1_AF_joint_XX=0.700227;gnomADv4_1_AF_joint_XY=0.692397;gnomADv4_1_AN_grpmax_joint=38696;gnomADv4_1_AN_joint=164890;gnomADv4_1_AN_joint_XX=86292;gnomADv4_1_AN_joint_XY=78598;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=39839;gnomADv4_1_nhomalt_joint_XX=21038;gnomADv4_1_nhomalt_joint_XY=18801;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29697037 chr22_29697037_G_A G A 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.072;CADD_Rawscore=0.173315;CSQ=A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding|16/16||ENST00000338641.10:c.*2235G>A||4389|||||rs5997506||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29697037G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs5997506|2226|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29697037G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs5997506|1978|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding|16/16||ENST00000361452.8:c.*2295G>A||4327|||||rs5997506||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29697037G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs5997506|2226|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29697037G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs5997506|2226|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding|5/5||ENST00000413209.6:c.*2235G>A||3176|||||rs5997506||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29697037G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs5997506|2092|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29697037G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||17/17|ENST00000672461.1:c.*502-224G>A|||||||rs5997506||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29697037G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs5997506|2092|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding|17/17||ENST00000672896.1:c.*2295G>A||4434|||||rs5997506||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29697037G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs5997506|1979|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding|16/16||NM_000268.4:c.*2235G>A||4389|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding|17/17||NM_001407053.1:c.*2235G>A||4505|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding|15/15||NM_001407054.1:c.*2235G>A||4266|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding|15/15||NM_001407055.1:c.*2235G>A||4263|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding|18/18||NM_001407056.1:c.*2295G>A||4550|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding|15/15||NM_001407057.1:c.*2235G>A||4254|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding|16/16||NM_001407058.1:c.*2310G>A||4326|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding|16/16||NM_001407059.1:c.*2295G>A||4299|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding|15/15||NM_001407060.1:c.*2228G>A||4226|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding|14/14||NM_001407062.1:c.*2235G>A||4131|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding|15/15||NM_001407063.1:c.*2310G>A||4200|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding|13/13||NM_001407064.1:c.*2228G>A||3977|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding|18/18||NM_001407065.1:c.*2295G>A||4540|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding|17/17||NM_001407067.1:c.*2295G>A||4459|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding|17/17||NM_016418.5:c.*2295G>A||4511|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding|16/16||NM_181828.3:c.*2295G>A||4308|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding|16/16||NM_181829.3:c.*2295G>A||4311|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding|15/15||NM_181830.3:c.*2295G>A||4185|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding|17/17||NM_181832.3:c.*2310G>A||4449|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding|5/5||NM_181833.3:c.*2235G>A||3099|||||rs5997506||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA|8/8||NR_176267.1:n.3408G>A||3408|||||rs5997506||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding|16/16||XM_017028809.3:c.*2235G>A||4054|||||rs5997506||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding|17/17||XM_047441386.1:c.*2310G>A||4114|||||rs5997506||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29697037G>A|benign||1||||||||||;ClinVar_CLNDN=Neurofibromatosis&_type_2|not_provided;ClinVar_CLNHGVS=NC_000022.11:g.29697037G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=341139;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|16|-35|-19|15;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25247;gnomADv4_1_AC_joint_XX=12951;gnomADv4_1_AC_joint_XY=12296;gnomADv4_1_AF_grpmax_joint=0.19108;gnomADv4_1_AF_joint=0.13438;gnomADv4_1_AF_joint_XX=0.133488;gnomADv4_1_AF_joint_XY=0.135332;gnomADv4_1_AN_grpmax_joint=42736;gnomADv4_1_AN_joint=187878;gnomADv4_1_AN_joint_XX=97020;gnomADv4_1_AN_joint_XY=90858;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1900;gnomADv4_1_nhomalt_joint_XX=962;gnomADv4_1_nhomalt_joint_XY=938;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29697270 chr22_29697270_C_G C G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.525;CADD_Rawscore=0.322929;CSQ=G|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding|16/16||ENST00000338641.10:c.*2468C>G||4622|||||rs1034880||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29697270C>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs1034880|2459|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29697270C>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs1034880|2211|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding|16/16||ENST00000361452.8:c.*2528C>G||4560|||||rs1034880||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29697270C>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs1034880|2459|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29697270C>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs1034880|2459|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding|5/5||ENST00000413209.6:c.*2468C>G||3409|||||rs1034880||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29697270C>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs1034880|2325|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay|18/18||ENST00000672461.1:c.*511C>G||2680|||||rs1034880||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29697270C>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs1034880|2325|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding|17/17||ENST00000672896.1:c.*2528C>G||4667|||||rs1034880||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29697270C>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs1034880|2212|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding|16/16||NM_000268.4:c.*2468C>G||4622|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding|17/17||NM_001407053.1:c.*2468C>G||4738|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding|15/15||NM_001407054.1:c.*2468C>G||4499|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding|15/15||NM_001407055.1:c.*2468C>G||4496|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding|18/18||NM_001407056.1:c.*2528C>G||4783|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding|15/15||NM_001407057.1:c.*2468C>G||4487|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding|16/16||NM_001407058.1:c.*2543C>G||4559|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding|16/16||NM_001407059.1:c.*2528C>G||4532|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding|15/15||NM_001407060.1:c.*2461C>G||4459|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding|14/14||NM_001407062.1:c.*2468C>G||4364|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding|15/15||NM_001407063.1:c.*2543C>G||4433|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding|13/13||NM_001407064.1:c.*2461C>G||4210|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding|18/18||NM_001407065.1:c.*2528C>G||4773|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding|17/17||NM_001407067.1:c.*2528C>G||4692|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding|17/17||NM_016418.5:c.*2528C>G||4744|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding|16/16||NM_181828.3:c.*2528C>G||4541|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding|16/16||NM_181829.3:c.*2528C>G||4544|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding|15/15||NM_181830.3:c.*2528C>G||4418|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding|17/17||NM_181832.3:c.*2543C>G||4682|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding|5/5||NM_181833.3:c.*2468C>G||3332|||||rs1034880||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA|8/8||NR_176267.1:n.3641C>G||3641|||||rs1034880||1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding|16/16||XM_017028809.3:c.*2468C>G||4287|||||rs1034880||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||,G|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding|17/17||XM_047441386.1:c.*2543C>G||4347|||||rs1034880||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29697270C>G|benign||1||||||||||;ClinVar_CLNDN=not_provided|Neurofibromatosis&_type_2;ClinVar_CLNHGVS=NC_000022.11:g.29697270C>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=341149;SpliceAI=G|NF2|0.00|0.00|0.00|0.00|-6|-9|-5|-9;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=63798;gnomADv4_1_AC_joint_XX=33565;gnomADv4_1_AC_joint_XY=30233;gnomADv4_1_AF_grpmax_joint=0.36205;gnomADv4_1_AF_joint=0.312883;gnomADv4_1_AF_joint_XX=0.318568;gnomADv4_1_AF_joint_XY=0.306803;gnomADv4_1_AN_grpmax_joint=99188;gnomADv4_1_AN_joint=203904;gnomADv4_1_AN_joint_XX=105362;gnomADv4_1_AN_joint_XY=98542;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10443;gnomADv4_1_nhomalt_joint_XX=5568;gnomADv4_1_nhomalt_joint_XY=4875;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29697678 chr22_29697678_T_C T C 41 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=3.8;CADD_Rawscore=0.347447;CSQ=C|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding|16/16||ENST00000338641.10:c.*2876T>C||5030|||||rs5763431||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||T|T||1||chr22:g.29697678T>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs5763431|2867|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||T|T||1||chr22:g.29697678T>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs5763431|2619|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||T|T||1||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding|16/16||ENST00000361452.8:c.*2936T>C||4968|||||rs5763431||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||T|T||1||chr22:g.29697678T>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs5763431|2867|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||T|T||1||chr22:g.29697678T>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs5763431|2867|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding|5/5||ENST00000413209.6:c.*2876T>C||3817|||||rs5763431||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||T|T||1||chr22:g.29697678T>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs5763431|2733|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||T|T||1||chr22:g.29697678T>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs5763431|153|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29697678T>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs5763431|2733|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||T|T||1||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding|17/17||ENST00000672896.1:c.*2936T>C||5075|||||rs5763431||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||T|T||1||chr22:g.29697678T>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs5763431|2620|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||T|T||1||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding|16/16||NM_000268.4:c.*2876T>C||5030|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding|17/17||NM_001407053.1:c.*2876T>C||5146|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding|15/15||NM_001407054.1:c.*2876T>C||4907|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding|15/15||NM_001407055.1:c.*2876T>C||4904|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding|18/18||NM_001407056.1:c.*2936T>C||5191|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding|15/15||NM_001407057.1:c.*2876T>C||4895|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding|16/16||NM_001407058.1:c.*2951T>C||4967|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding|16/16||NM_001407059.1:c.*2936T>C||4940|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding|15/15||NM_001407060.1:c.*2869T>C||4867|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding|14/14||NM_001407062.1:c.*2876T>C||4772|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding|15/15||NM_001407063.1:c.*2951T>C||4841|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding|13/13||NM_001407064.1:c.*2869T>C||4618|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding|18/18||NM_001407065.1:c.*2936T>C||5181|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding|17/17||NM_001407067.1:c.*2936T>C||5100|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding|17/17||NM_016418.5:c.*2936T>C||5152|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||T|T|OK|||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding|16/16||NM_181828.3:c.*2936T>C||4949|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding|16/16||NM_181829.3:c.*2936T>C||4952|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding|15/15||NM_181830.3:c.*2936T>C||4826|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding|17/17||NM_181832.3:c.*2951T>C||5090|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding|5/5||NM_181833.3:c.*2876T>C||3740|||||rs5763431||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA|8/8||NR_176267.1:n.4049T>C||4049|||||rs5763431||1||EntrezGene|HGNC:7773|||||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding|16/16||XM_017028809.3:c.*2876T>C||4695|||||rs5763431||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||,C|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding|17/17||XM_047441386.1:c.*2951T>C||4755|||||rs5763431||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||T|T||||chr22:g.29697678T>C|benign||1||||||||||;ClinVar_CLNDN=not_provided|Neurofibromatosis&_type_2;ClinVar_CLNHGVS=NC_000022.11:g.29697678T>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=341157;SpliceAI=C|NF2|0.00|0.00|0.00|0.00|8|32|31|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54231;gnomADv4_1_AC_joint_XX=28615;gnomADv4_1_AC_joint_XY=25616;gnomADv4_1_AF_grpmax_joint=0.373277;gnomADv4_1_AF_joint=0.31447;gnomADv4_1_AF_joint_XX=0.322488;gnomADv4_1_AF_joint_XY=0.305972;gnomADv4_1_AN_grpmax_joint=79812;gnomADv4_1_AN_joint=172452;gnomADv4_1_AN_joint_XX=88732;gnomADv4_1_AN_joint_XY=83720;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8993;gnomADv4_1_nhomalt_joint_XX=4868;gnomADv4_1_nhomalt_joint_XY=4125;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29698076 chr22_29698076_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.781;CADD_Rawscore=-0.081136;CSQ=A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding|16/16||ENST00000338641.10:c.*3274G>A||5428|||||rs11090576||1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29698076G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs11090576|3265|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29698076G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs11090576|3017|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding|16/16||ENST00000361452.8:c.*3334G>A||5366|||||rs11090576||1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29698076G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs11090576|3265|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29698076G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs11090576|3265|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding|5/5||ENST00000413209.6:c.*3274G>A||4215|||||rs11090576||1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29698076G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs11090576|3131|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29698076G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs11090576|551|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29698076G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs11090576|3131|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding|17/17||ENST00000672896.1:c.*3334G>A||5473|||||rs11090576||1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29698076G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs11090576|3018|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding|16/16||NM_000268.4:c.*3274G>A||5428|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding|17/17||NM_001407053.1:c.*3274G>A||5544|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding|15/15||NM_001407054.1:c.*3274G>A||5305|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding|15/15||NM_001407055.1:c.*3274G>A||5302|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding|18/18||NM_001407056.1:c.*3334G>A||5589|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding|15/15||NM_001407057.1:c.*3274G>A||5293|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding|16/16||NM_001407058.1:c.*3349G>A||5365|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding|16/16||NM_001407059.1:c.*3334G>A||5338|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding|15/15||NM_001407060.1:c.*3267G>A||5265|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding|14/14||NM_001407062.1:c.*3274G>A||5170|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding|15/15||NM_001407063.1:c.*3349G>A||5239|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding|13/13||NM_001407064.1:c.*3267G>A||5016|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding|18/18||NM_001407065.1:c.*3334G>A||5579|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding|17/17||NM_001407067.1:c.*3334G>A||5498|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding|17/17||NM_016418.5:c.*3334G>A||5550|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding|16/16||NM_181828.3:c.*3334G>A||5347|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding|16/16||NM_181829.3:c.*3334G>A||5350|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding|15/15||NM_181830.3:c.*3334G>A||5224|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding|17/17||NM_181832.3:c.*3349G>A||5488|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding|5/5||NM_181833.3:c.*3274G>A||4138|||||rs11090576||1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA|8/8||NR_176267.1:n.4447G>A||4447|||||rs11090576||1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding|16/16||XM_017028809.3:c.*3274G>A||5093|||||rs11090576||1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||,A|3_prime_UTR_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding|17/17||XM_047441386.1:c.*3349G>A||5153|||||rs11090576||1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29698076G>A|benign||1||||||||||;ClinVar_CLNDN=not_provided|Neurofibromatosis&_type_2;ClinVar_CLNHGVS=NC_000022.11:g.29698076G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=NF2:4771;ClinVar_Variation_ID=341167;SpliceAI=A|NF2|0.00|0.00|0.00|0.00|21|-5|-32|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30216;gnomADv4_1_AC_joint_XX=15617;gnomADv4_1_AC_joint_XY=14599;gnomADv4_1_AF_grpmax_joint=0.191034;gnomADv4_1_AF_joint=0.131693;gnomADv4_1_AF_joint_XX=0.130846;gnomADv4_1_AF_joint_XY=0.132612;gnomADv4_1_AN_grpmax_joint=45170;gnomADv4_1_AN_joint=229442;gnomADv4_1_AN_joint_XX=119354;gnomADv4_1_AN_joint_XY=110088;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2237;gnomADv4_1_nhomalt_joint_XX=1138;gnomADv4_1_nhomalt_joint_XY=1099;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29699377 chr22_29699377_T_TC T TC 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.896;CADDIndel_Rawscore=-0.046034;CSQ=C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs149499294|779|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs149499294|4566|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl|||||1||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs149499294|4318|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl|||||1||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs149499294|783|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs149499294|4566|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl|||||1||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs149499294|4566|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs149499294|783|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs149499294|4432|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl|||||1||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs149499294|1852|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs149499294|4432|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl|||||1||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs149499294|779|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs149499294|4319|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl|||||1||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs149499294|777|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK|||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs149499294|779|1||EntrezGene|HGNC:7773|||||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs149499294|777|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs149499294|777|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq|||||||chr22:g.29699377_29699378insC|||||||||||||;TYPE=INDEL;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21243;gnomADv4_1_AC_joint_XX=10817;gnomADv4_1_AC_joint_XY=10426;gnomADv4_1_AF_grpmax_joint=0.189864;gnomADv4_1_AF_joint=0.139965;gnomADv4_1_AF_joint_XX=0.139358;gnomADv4_1_AF_joint_XY=0.140599;gnomADv4_1_AN_grpmax_joint=41398;gnomADv4_1_AN_joint=151774;gnomADv4_1_AN_joint_XX=77620;gnomADv4_1_AN_joint_XY=74154;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1614;gnomADv4_1_nhomalt_joint_XX=819;gnomADv4_1_nhomalt_joint_XY=795;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29699706 chr22_29699706_C_T C T 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.152;CADD_Rawscore=-0.499942;CSQ=T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs1970776|1108|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs1970776|4895|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||C|C||1||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs1970776|4647|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||C|C||1||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs1970776|1112|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs1970776|4895|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||C|C||1||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs1970776|4895|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs1970776|1112|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs1970776|4761|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||C|C||1||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs1970776|2181|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs1970776|4761|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||C|C||1||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs1970776|1108|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs1970776|4648|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||C|C||1||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs1970776|1106|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs1970776|1108|1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs1970776|1106|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs1970776|1106|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29699706C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21554;gnomADv4_1_AC_joint_XX=10973;gnomADv4_1_AC_joint_XY=10581;gnomADv4_1_AF_grpmax_joint=0.193331;gnomADv4_1_AF_joint=0.141659;gnomADv4_1_AF_joint_XX=0.141099;gnomADv4_1_AF_joint_XY=0.142245;gnomADv4_1_AN_grpmax_joint=41478;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1674;gnomADv4_1_nhomalt_joint_XX=852;gnomADv4_1_nhomalt_joint_XY=822;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29699717 chr22_29699717_G_A G A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.193;CADD_Rawscore=0.188418;CSQ=A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs9608806|1119|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000353887|protein_coding||||||||||rs9608806|4906|1||HGNC|HGNC:7773|1|CCDS13865.1|ENSP00000340626|P35240.250||UPI0000072477|P35240-4||Ensembl||G|G||1||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs9608806|4658|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||G|G||1||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs9608806|1123|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361676|protein_coding||||||||||rs9608806|4906|1||HGNC|HGNC:7773|1|CCDS13863.1|ENSP00000355183|P35240.250||UPI000006E68B|P35240-6||Ensembl||G|G||1||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000397789|protein_coding||||||||||rs9608806|4906|1||HGNC|HGNC:7773|1|CCDS13862.1|ENSP00000380891|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs9608806|1123|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000432151|nonsense_mediated_decay||||||||||rs9608806|4772|1||HGNC|HGNC:7773|1||ENSP00000395885|P35240.250||UPI0000072437|P35240-10||Ensembl||G|G||1||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs9608806|2192|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672805|nonsense_mediated_decay||||||||||rs9608806|4772|1||HGNC|HGNC:7773|||ENSP00000500295||A0A5F9ZHD8.17|UPI00001B2F2F|||Ensembl||G|G||1||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs9608806|1119|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs9608806|4659|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||G|G||1||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs9608806|1117|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs9608806|1119|1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs9608806|1117|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs9608806|1117|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29699717G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000338641,ENST00000353887,ENST00000361166,ENST00000361452,ENST00000361676,ENST00000397789,ENST00000413209,ENST00000432151,ENST00000672461,ENST00000672805,ENST00000672896,ENST00000673312,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46773;gnomADv4_1_AC_joint_XX=24584;gnomADv4_1_AC_joint_XY=22189;gnomADv4_1_AF_grpmax_joint=0.37265;gnomADv4_1_AF_joint=0.307567;gnomADv4_1_AF_joint_XX=0.316242;gnomADv4_1_AF_joint_XY=0.298496;gnomADv4_1_AN_grpmax_joint=67978;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7609;gnomADv4_1_nhomalt_joint_XX=4131;gnomADv4_1_nhomalt_joint_XY=3478;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29699970 chr22_29699970_CA_C CA C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.311;CADDIndel_Rawscore=-0.312618;CSQ=-|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs368978842|1373|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||A|A||1||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361166|protein_coding||||||||||rs368978842|4912|1||HGNC|HGNC:7773|1||ENSP00000354529||A0A5K1VW66.21|UPI0001FA15AD|||Ensembl||A|A||1||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs368978842|1377|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||A|A||1||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs368978842|1377|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||A|A||1||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs368978842|2446|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs368978842|1373|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||A|A||1||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000673312|nonsense_mediated_decay||||||||||rs368978842|4913|1||HGNC|HGNC:7773|||ENSP00000500186||A0A5F9ZHA0.19||||Ensembl||A|A||1||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs368978842|1371|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||A|A|OK|||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs368978842|1373|1||EntrezGene|HGNC:7773|||||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs368978842|1371|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||,-|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs368978842|1371|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||A|A||||chr22:g.29699984del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000338641,ENST00000361166,ENST00000361452,ENST00000413209,ENST00000672461,ENST00000672896,ENST00000673312,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,XM_017028809.3,XM_047441386.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771;VEP_SYMBOL=NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13932;gnomADv4_1_AC_joint_XX=7034;gnomADv4_1_AC_joint_XY=6898;gnomADv4_1_AF_grpmax_joint=0.236825;gnomADv4_1_AF_joint=0.172584;gnomADv4_1_AF_joint_XX=0.165834;gnomADv4_1_AF_joint_XY=0.180057;gnomADv4_1_AN_grpmax_joint=3074;gnomADv4_1_AN_joint=80726;gnomADv4_1_AN_joint_XX=42416;gnomADv4_1_AN_joint_XY=38310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=682;gnomADv4_1_nhomalt_joint_XX=334;gnomADv4_1_nhomalt_joint_XY=348;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29700885 chr22_29700885_G_T G T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.42;CADD_Rawscore=-0.236977;CSQ=T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs2857629|2287|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs2857629|2291|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs2857629|2291|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||||||||||rs2857629|4371|-1||HGNC|HGNC:55758|3||||||||Ensembl||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs2857629|3360|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs2857629|2287|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs2857629|2285|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs2857629|2287|1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||||||||||rs2857629|4371|-1||EntrezGene|HGNC:55758|||||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs2857629|2285|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs2857629|2285|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29700885G>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4XKK|enhancer||||||||||rs2857629|||||||||||||||||||||chr22:g.29700885G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000338641,ENST00000361452,ENST00000413209,ENST00000416352,ENST00000672461,ENST00000672896,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,NR_186695.1,XM_017028809.3,XM_047441386.1,ENSR22_C4XKK;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000232396,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,122149303,4771,4771,.;VEP_SYMBOL=NF2,NF2,NF2,CABP7-DT,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,CABP7-DT,NF2,NF2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35698;gnomADv4_1_AC_joint_XX=17974;gnomADv4_1_AC_joint_XY=17724;gnomADv4_1_AF_grpmax_joint=0.429377;gnomADv4_1_AF_joint=0.234843;gnomADv4_1_AF_joint_XX=0.23132;gnomADv4_1_AF_joint_XY=0.238527;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4430;gnomADv4_1_nhomalt_joint_XX=2222;gnomADv4_1_nhomalt_joint_XY=2208;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29701050 chr22_29701050_C_G C G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=3.747;CADD_Rawscore=0.342781;CSQ=G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs2530681|2452|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs2530681|2456|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs2530681|2456|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||||||||||rs2530681|4206|-1||HGNC|HGNC:55758|3||||||||Ensembl||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs2530681|3525|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs2530681|2452|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs2530681|2450|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs2530681|2452|1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||||||||||rs2530681|4206|-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs2530681|2450|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs2530681|2450|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29701050C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4XKK|enhancer||||||||||rs2530681|||||||||||||||||||||chr22:g.29701050C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000338641,ENST00000361452,ENST00000413209,ENST00000416352,ENST00000672461,ENST00000672896,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,NR_186695.1,XM_017028809.3,XM_047441386.1,ENSR22_C4XKK;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000232396,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,122149303,4771,4771,.;VEP_SYMBOL=NF2,NF2,NF2,CABP7-DT,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,CABP7-DT,NF2,NF2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66097;gnomADv4_1_AC_joint_XX=33665;gnomADv4_1_AC_joint_XY=32432;gnomADv4_1_AF_grpmax_joint=0.684421;gnomADv4_1_AF_joint=0.434454;gnomADv4_1_AF_joint_XX=0.432957;gnomADv4_1_AF_joint_XY=0.436019;gnomADv4_1_AN_grpmax_joint=41492;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=16491;gnomADv4_1_nhomalt_joint_XX=8435;gnomADv4_1_nhomalt_joint_XY=8056;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29701269 chr22_29701269_G_C G C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.388;CADD_Rawscore=-0.256932;CSQ=C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs9614030|2671|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs9614030|2675|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs9614030|2675|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||||||||||rs9614030|3987|-1||HGNC|HGNC:55758|3||||||||Ensembl||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs9614030|3744|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs9614030|2671|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs9614030|2669|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs9614030|2671|1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||||||||||rs9614030|3987|-1||EntrezGene|HGNC:55758|||||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs9614030|2669|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs9614030|2669|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29701269G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4XKK|enhancer||||||||||rs9614030|||||||||||||||||||||chr22:g.29701269G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000338641,ENST00000361452,ENST00000413209,ENST00000416352,ENST00000672461,ENST00000672896,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,NR_186695.1,XM_017028809.3,XM_047441386.1,ENSR22_C4XKK;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000232396,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,122149303,4771,4771,.;VEP_SYMBOL=NF2,NF2,NF2,CABP7-DT,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,CABP7-DT,NF2,NF2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20669;gnomADv4_1_AC_joint_XX=10894;gnomADv4_1_AC_joint_XY=9775;gnomADv4_1_AF_grpmax_joint=0.191761;gnomADv4_1_AF_joint=0.135764;gnomADv4_1_AF_joint_XX=0.140033;gnomADv4_1_AF_joint_XY=0.131303;gnomADv4_1_AN_grpmax_joint=67996;gnomADv4_1_AN_joint=152242;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1683;gnomADv4_1_nhomalt_joint_XX=940;gnomADv4_1_nhomalt_joint_XY=743;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29702225 chr22_29702225_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=17.36;CADD_Rawscore=2.13099;CSQ=T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs148923503|3627|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||C|C||1||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs148923503|3631|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||C|C||1||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs148923503|3631|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||C|C||1||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||||||||||rs148923503|3031|-1||HGNC|HGNC:55758|3||||||||Ensembl||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs148923503|4700|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs148923503|3627|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||C|C||1||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs148923503|3625|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||C|C|OK|||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs148923503|3627|1||EntrezGene|HGNC:7773|||||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||||||||||rs148923503|3031|-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs148923503|3625|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs148923503|3625|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||C|C||||chr22:g.29702225C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4XKK|enhancer||||||||||rs148923503|||||||||||||||||||||chr22:g.29702225C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000338641,ENST00000361452,ENST00000413209,ENST00000416352,ENST00000672461,ENST00000672896,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,NR_186695.1,XM_017028809.3,XM_047441386.1,ENSR22_C4XKK;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000232396,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,122149303,4771,4771,.;VEP_SYMBOL=NF2,NF2,NF2,CABP7-DT,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,CABP7-DT,NF2,NF2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=577;gnomADv4_1_AC_joint_XX=269;gnomADv4_1_AC_joint_XY=308;gnomADv4_1_AF_grpmax_joint=0.0136054;gnomADv4_1_AF_joint=0.00378793;gnomADv4_1_AF_joint_XX=0.00345563;gnomADv4_1_AF_joint_XY=0.00413523;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152326;gnomADv4_1_AN_joint_XX=77844;gnomADv4_1_AN_joint_XY=74482;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3;gnomADv4_1_nhomalt_joint_XX=2;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29702289 chr22_29702289_T_TGA T TGA 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=3.1;CADDIndel_Rawscore=0.284004;CSQ=GA|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs35805342|3691|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl|||||1||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs35805342|3695|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl|||||1||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs35805342|3695|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl|||||1||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||||||||||rs35805342|2966|-1||HGNC|HGNC:55758|3||||||||Ensembl|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs35805342|4764|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs35805342|3691|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl|||||1||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs35805342|3689|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||||OK|||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs35805342|3691|1||EntrezGene|HGNC:7773|||||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||||||||||rs35805342|2966|-1||EntrezGene|HGNC:55758|||||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs35805342|3689|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs35805342|3689|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq|||||||chr22:g.29702303_29702304dup|||||||||||||,GA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4XKK|enhancer||||||||||rs35805342|||||||||||||||||||||chr22:g.29702303_29702304dup|||||||||||||;TYPE=INDEL;VEP_Allele=GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA,GA;VEP_Feature=ENST00000338641,ENST00000361452,ENST00000413209,ENST00000416352,ENST00000672461,ENST00000672896,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,NR_186695.1,XM_017028809.3,XM_047441386.1,ENSR22_C4XKK;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000232396,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,122149303,4771,4771,.;VEP_SYMBOL=NF2,NF2,NF2,CABP7-DT,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,CABP7-DT,NF2,NF2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65197;gnomADv4_1_AC_joint_XX=33289;gnomADv4_1_AC_joint_XY=31908;gnomADv4_1_AF_grpmax_joint=0.681262;gnomADv4_1_AF_joint=0.43202;gnomADv4_1_AF_joint_XX=0.430803;gnomADv4_1_AF_joint_XY=0.433297;gnomADv4_1_AN_grpmax_joint=41018;gnomADv4_1_AN_joint=150912;gnomADv4_1_AN_joint_XX=77272;gnomADv4_1_AN_joint_XY=73640;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=16096;gnomADv4_1_nhomalt_joint_XX=8265;gnomADv4_1_nhomalt_joint_XY=7831;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29702359 chr22_29702359_G_A G A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.045;CADD_Rawscore=-0.829618;CSQ=A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000338641|protein_coding||||||||||rs2159189|3761|1||HGNC|HGNC:7773|1|CCDS13861.1|ENSP00000344666|P35240.250||UPI000012EF27|P35240-1||Ensembl||G|G||1||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000361452|protein_coding||||||||||rs2159189|3765|1||HGNC|HGNC:7773|1|CCDS13864.1|ENSP00000354897|P35240.250||UPI0000072BC8|P35240-5||Ensembl||G|G||1||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000413209|protein_coding||||||||||rs2159189|3765|1||HGNC|HGNC:7773|1|CCDS54516.1|ENSP00000409921|P35240.250||UPI0000072DE9|P35240-9||Ensembl||G|G||1||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||||||||||rs2159189|2897|-1||HGNC|HGNC:55758|3||||||||Ensembl||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672461|nonsense_mediated_decay||||||||||rs2159189|4834|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500919|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|ENSG00000186575|Transcript|ENST00000672896|protein_coding||||||||||rs2159189|3761|1||HGNC|HGNC:7773||CCDS13862.1|ENSP00000500117|P35240.250||UPI0000072457|P35240-3||Ensembl||G|G||1||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_000268.4|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_000259.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407053.1|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_001393982.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407054.1|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_001393983.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407055.1|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_001393984.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407056.1|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_001393985.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407057.1|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_001393986.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407058.1|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_001393987.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407059.1|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_001393988.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407060.1|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_001393989.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407062.1|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_001393991.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407063.1|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_001393992.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407064.1|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_001393993.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407065.1|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_001393994.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_001407067.1|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_001393996.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_016418.5|protein_coding||||||||||rs2159189|3759|1||EntrezGene|HGNC:7773|||NP_057502.2||||||RefSeq||G|G|OK|||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181828.3|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_861966.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181829.3|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_861967.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181830.3|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_861968.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181832.3|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_861970.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NM_181833.3|protein_coding||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||NP_861971.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|NR_176267.1|misc_RNA||||||||||rs2159189|3761|1||EntrezGene|HGNC:7773|||||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||||||||||rs2159189|2897|-1||EntrezGene|HGNC:55758|||||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_017028809.3|protein_coding||||||||||rs2159189|3759|1||EntrezGene|HGNC:7773|||XP_016884298.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|NF2|4771|Transcript|XM_047441386.1|protein_coding||||||||||rs2159189|3759|1||EntrezGene|HGNC:7773|||XP_047297342.1||||||RefSeq||G|G||||chr22:g.29702359G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4XKK|enhancer||||||||||rs2159189|||||||||||||||||||||chr22:g.29702359G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000338641,ENST00000361452,ENST00000413209,ENST00000416352,ENST00000672461,ENST00000672896,NM_000268.4,NM_001407053.1,NM_001407054.1,NM_001407055.1,NM_001407056.1,NM_001407057.1,NM_001407058.1,NM_001407059.1,NM_001407060.1,NM_001407062.1,NM_001407063.1,NM_001407064.1,NM_001407065.1,NM_001407067.1,NM_016418.5,NM_181828.3,NM_181829.3,NM_181830.3,NM_181832.3,NM_181833.3,NR_176267.1,NR_186695.1,XM_017028809.3,XM_047441386.1,ENSR22_C4XKK;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000186575,ENSG00000186575,ENSG00000186575,ENSG00000232396,ENSG00000186575,ENSG00000186575,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,4771,122149303,4771,4771,.;VEP_SYMBOL=NF2,NF2,NF2,CABP7-DT,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,NF2,CABP7-DT,NF2,NF2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65930;gnomADv4_1_AC_joint_XX=33601;gnomADv4_1_AC_joint_XY=32329;gnomADv4_1_AF_grpmax_joint=0.684459;gnomADv4_1_AF_joint=0.434098;gnomADv4_1_AF_joint_XX=0.432735;gnomADv4_1_AF_joint_XY=0.435525;gnomADv4_1_AN_grpmax_joint=41386;gnomADv4_1_AN_joint=151878;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=16434;gnomADv4_1_nhomalt_joint_XX=8417;gnomADv4_1_nhomalt_joint_XY=8017;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29703885 chr22_29703885_T_C T C 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.136;CADD_Rawscore=-0.529235;CSQ=C|downstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||||||||||rs140088|1371|-1||HGNC|HGNC:55758|3||||||||Ensembl||T|T||||chr22:g.29703885T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||||||||||rs140088|1371|-1||EntrezGene|HGNC:55758|||||||||RefSeq||T|T||||chr22:g.29703885T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000416352,NR_186695.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000232396,122149303;VEP_SYMBOL=CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=151784;gnomADv4_1_AC_joint_XX=77538;gnomADv4_1_AC_joint_XY=74246;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.996965;gnomADv4_1_AF_joint_XX=0.996504;gnomADv4_1_AF_joint_XY=0.997447;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152246;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75662;gnomADv4_1_nhomalt_joint_XX=38633;gnomADv4_1_nhomalt_joint_XY=37029;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29705889 chr22_29705889_T_G T G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.918;CADD_Rawscore=0.152905;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||2/2|ENST00000416352.1:n.416+242A>C|||||||rs2857631||-1||HGNC|HGNC:55758|3||||||||Ensembl||T|T||||chr22:g.29705889T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||2/2|NR_186695.1:n.460+242A>C|||||||rs2857631||-1||EntrezGene|HGNC:55758|||||||||RefSeq||T|T||||chr22:g.29705889T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G;VEP_Feature=ENST00000416352,NR_186695.1;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000232396,122149303;VEP_SYMBOL=CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=116371;gnomADv4_1_AC_joint_XX=60004;gnomADv4_1_AC_joint_XY=56367;gnomADv4_1_AF_grpmax_joint=0.921984;gnomADv4_1_AF_joint=0.765458;gnomADv4_1_AF_joint_XX=0.771597;gnomADv4_1_AF_joint_XY=0.759029;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=45176;gnomADv4_1_nhomalt_joint_XX=23447;gnomADv4_1_nhomalt_joint_XY=21729;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29707487 chr22_29707487_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.994;CADD_Rawscore=-0.019372;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||1/2|ENST00000416352.1:n.313-1253C>T|||||||rs2530682||-1||HGNC|HGNC:55758|3||||||||Ensembl||G|G||||chr22:g.29707487G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||||||||||rs2530682|4319|-1||HGNC|HGNC:55758|2||||||||Ensembl||G|G||||chr22:g.29707487G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||||||||||rs2530682|4319|-1||EntrezGene|HGNC:55758|||||||||RefSeq||G|G||||chr22:g.29707487G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||1/2|NR_186695.1:n.357-1253C>T|||||||rs2530682||-1||EntrezGene|HGNC:55758|||||||||RefSeq||G|G||||chr22:g.29707487G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000416352,ENST00000451180,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000232396,ENSG00000232396,122149303,122149303;VEP_SYMBOL=CABP7-DT,CABP7-DT,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=56190;gnomADv4_1_AC_joint_XX=28456;gnomADv4_1_AC_joint_XY=27734;gnomADv4_1_AF_grpmax_joint=0.558252;gnomADv4_1_AF_joint=0.369418;gnomADv4_1_AF_joint_XX=0.365909;gnomADv4_1_AF_joint_XY=0.37309;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152104;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10919;gnomADv4_1_nhomalt_joint_XX=5484;gnomADv4_1_nhomalt_joint_XY=5435;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29707830 chr22_29707830_T_A T A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=4.802;CADD_Rawscore=0.437424;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||1/2|ENST00000416352.1:n.313-1596A>T|||||||rs2527342||-1||HGNC|HGNC:55758|3||||||||Ensembl||T|T||||chr22:g.29707830T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||||||||||rs2527342|3976|-1||HGNC|HGNC:55758|2||||||||Ensembl||T|T||||chr22:g.29707830T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||||||||||rs2527342|3976|-1||EntrezGene|HGNC:55758|||||||||RefSeq||T|T||||chr22:g.29707830T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||1/2|NR_186695.1:n.357-1596A>T|||||||rs2527342||-1||EntrezGene|HGNC:55758|||||||||RefSeq||T|T||||chr22:g.29707830T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000416352,ENST00000451180,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000232396,ENSG00000232396,122149303,122149303;VEP_SYMBOL=CABP7-DT,CABP7-DT,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=65532;gnomADv4_1_AC_joint_XX=33406;gnomADv4_1_AC_joint_XY=32126;gnomADv4_1_AF_grpmax_joint=0.67878;gnomADv4_1_AF_joint=0.43069;gnomADv4_1_AF_joint_XX=0.429438;gnomADv4_1_AF_joint_XY=0.431998;gnomADv4_1_AN_grpmax_joint=41526;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=16176;gnomADv4_1_nhomalt_joint_XX=8279;gnomADv4_1_nhomalt_joint_XY=7897;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29708920 chr22_29708920_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.021;CADD_Rawscore=-1.0451;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||1/2|ENST00000416352.1:n.313-2686G>A|||||||rs2530683||-1||HGNC|HGNC:55758|3||||||||Ensembl||C|C||||chr22:g.29708920C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||||||||||rs2530683|2886|-1||HGNC|HGNC:55758|2||||||||Ensembl||C|C||||chr22:g.29708920C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||||||||||rs2530683|2886|-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29708920C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||1/2|NR_186695.1:n.357-2686G>A|||||||rs2530683||-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29708920C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000416352,ENST00000451180,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000232396,ENSG00000232396,122149303,122149303;VEP_SYMBOL=CABP7-DT,CABP7-DT,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=54943;gnomADv4_1_AC_joint_XX=27846;gnomADv4_1_AC_joint_XY=27097;gnomADv4_1_AF_grpmax_joint=0.549495;gnomADv4_1_AF_joint=0.361439;gnomADv4_1_AF_joint_XX=0.358332;gnomADv4_1_AF_joint_XY=0.364687;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10371;gnomADv4_1_nhomalt_joint_XX=5205;gnomADv4_1_nhomalt_joint_XY=5166;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29710670 chr22_29710670_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=8.036;CADD_Rawscore=0.772734;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||1/2|ENST00000416352.1:n.313-4436T>C|||||||rs2530685||-1||HGNC|HGNC:55758|3||||||||Ensembl||A|A||||chr22:g.29710670A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||||||||||rs2530685|1136|-1||HGNC|HGNC:55758|2||||||||Ensembl||A|A||||chr22:g.29710670A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||||||||||rs2530685|1136|-1||EntrezGene|HGNC:55758|||||||||RefSeq||A|A||||chr22:g.29710670A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||1/2|NR_186695.1:n.357-4436T>C|||||||rs2530685||-1||EntrezGene|HGNC:55758|||||||||RefSeq||A|A||||chr22:g.29710670A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000416352,ENST00000451180,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000232396,ENSG00000232396,122149303,122149303;VEP_SYMBOL=CABP7-DT,CABP7-DT,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=113783;gnomADv4_1_AC_joint_XX=58683;gnomADv4_1_AC_joint_XY=55100;gnomADv4_1_AF_grpmax_joint=0.921531;gnomADv4_1_AF_joint=0.747618;gnomADv4_1_AF_joint_XX=0.754377;gnomADv4_1_AF_joint_XY=0.740552;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=43294;gnomADv4_1_nhomalt_joint_XX=22490;gnomADv4_1_nhomalt_joint_XY=20804;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29714563 chr22_29714563_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=2.932;CADD_Rawscore=0.267953;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||1/2|ENST00000416352.1:n.312+4985G>A|||||||rs28540755||-1||HGNC|HGNC:55758|3||||||||Ensembl||C|C||||chr22:g.29714563C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||1/1|ENST00000451180.2:n.380-2568G>A|||||||rs28540755||-1||HGNC|HGNC:55758|2||||||||Ensembl||C|C||||chr22:g.29714563C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||1/1|NR_186694.1:n.357-2568G>A|||||||rs28540755||-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29714563C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||1/2|NR_186695.1:n.356+4985G>A|||||||rs28540755||-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29714563C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000416352,ENST00000451180,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000232396,ENSG00000232396,122149303,122149303;VEP_SYMBOL=CABP7-DT,CABP7-DT,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=9789;gnomADv4_1_AC_joint_XX=4775;gnomADv4_1_AC_joint_XY=5014;gnomADv4_1_AF_grpmax_joint=0.15796;gnomADv4_1_AF_joint=0.064293;gnomADv4_1_AF_joint_XX=0.0613643;gnomADv4_1_AF_joint_XY=0.0673545;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152256;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=461;gnomADv4_1_nhomalt_joint_XX=213;gnomADv4_1_nhomalt_joint_XY=248;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29715313 chr22_29715313_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.153;CADD_Rawscore=0.183508;CSQ=G|upstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs715595|4690|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||A|A||||chr22:g.29715313A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||1/2|ENST00000416352.1:n.312+4235T>C|||||||rs715595||-1||HGNC|HGNC:55758|3||||||||Ensembl||A|A||||chr22:g.29715313A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||1/1|ENST00000451180.2:n.380-3318T>C|||||||rs715595||-1||HGNC|HGNC:55758|2||||||||Ensembl||A|A||||chr22:g.29715313A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs715595|4690|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||A|A||||chr22:g.29715313A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||1/1|NR_186694.1:n.357-3318T>C|||||||rs715595||-1||EntrezGene|HGNC:55758|||||||||RefSeq||A|A||||chr22:g.29715313A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||1/2|NR_186695.1:n.356+4235T>C|||||||rs715595||-1||EntrezGene|HGNC:55758|||||||||RefSeq||A|A||||chr22:g.29715313A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000216144,ENST00000416352,ENST00000451180,NM_182527.3,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000232396,ENSG00000232396,164633,122149303,122149303;VEP_SYMBOL=CABP7,CABP7-DT,CABP7-DT,CABP7,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=51398;gnomADv4_1_AC_joint_XX=26823;gnomADv4_1_AC_joint_XY=24575;gnomADv4_1_AF_grpmax_joint=0.576863;gnomADv4_1_AF_joint=0.337865;gnomADv4_1_AF_joint_XX=0.34499;gnomADv4_1_AF_joint_XY=0.330416;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9476;gnomADv4_1_nhomalt_joint_XX=5040;gnomADv4_1_nhomalt_joint_XY=4436;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29715569 chr22_29715569_C_T C T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.571;CADD_Rawscore=-0.159951;CSQ=T|upstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs2527343|4434|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||C|C||||chr22:g.29715569C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||1/2|ENST00000416352.1:n.312+3979G>A|||||||rs2527343||-1||HGNC|HGNC:55758|3||||||||Ensembl||C|C||||chr22:g.29715569C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||1/1|ENST00000451180.2:n.380-3574G>A|||||||rs2527343||-1||HGNC|HGNC:55758|2||||||||Ensembl||C|C||||chr22:g.29715569C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs2527343|4434|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||C|C||||chr22:g.29715569C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||1/1|NR_186694.1:n.357-3574G>A|||||||rs2527343||-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29715569C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||1/2|NR_186695.1:n.356+3979G>A|||||||rs2527343||-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29715569C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216144,ENST00000416352,ENST00000451180,NM_182527.3,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000232396,ENSG00000232396,164633,122149303,122149303;VEP_SYMBOL=CABP7,CABP7-DT,CABP7-DT,CABP7,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=31606;gnomADv4_1_AC_joint_XX=15842;gnomADv4_1_AC_joint_XY=15764;gnomADv4_1_AF_grpmax_joint=0.42866;gnomADv4_1_AF_joint=0.207737;gnomADv4_1_AF_joint_XX=0.203719;gnomADv4_1_AF_joint_XY=0.211939;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152144;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3546;gnomADv4_1_nhomalt_joint_XX=1725;gnomADv4_1_nhomalt_joint_XY=1821;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29715635 chr22_29715635_C_T C T 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=6.605;CADD_Rawscore=0.615772;CSQ=T|upstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs2527344|4368|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||C|C||||chr22:g.29715635C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||1/2|ENST00000416352.1:n.312+3913G>A|||||||rs2527344||-1||HGNC|HGNC:55758|3||||||||Ensembl||C|C||||chr22:g.29715635C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||1/1|ENST00000451180.2:n.380-3640G>A|||||||rs2527344||-1||HGNC|HGNC:55758|2||||||||Ensembl||C|C||||chr22:g.29715635C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs2527344|4368|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||C|C||||chr22:g.29715635C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||1/1|NR_186694.1:n.357-3640G>A|||||||rs2527344||-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29715635C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||1/2|NR_186695.1:n.356+3913G>A|||||||rs2527344||-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29715635C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216144,ENST00000416352,ENST00000451180,NM_182527.3,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000232396,ENSG00000232396,164633,122149303,122149303;VEP_SYMBOL=CABP7,CABP7-DT,CABP7-DT,CABP7,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=32179;gnomADv4_1_AC_joint_XX=16126;gnomADv4_1_AC_joint_XY=16053;gnomADv4_1_AF_grpmax_joint=0.455487;gnomADv4_1_AF_joint=0.211481;gnomADv4_1_AF_joint_XX=0.207334;gnomADv4_1_AF_joint_XY=0.215818;gnomADv4_1_AN_grpmax_joint=4830;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3698;gnomADv4_1_nhomalt_joint_XX=1796;gnomADv4_1_nhomalt_joint_XY=1902;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29715755 chr22_29715755_AC_A AC A 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.499;CADDIndel_Rawscore=-0.193842;CSQ=-|upstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs76491891|4247|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||C|C||||chr22:g.29715761del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||1/2|ENST00000416352.1:n.312+3792del|||||||rs76491891||-1||HGNC|HGNC:55758|3||||||||Ensembl||C|C||||chr22:g.29715761del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||1/1|ENST00000451180.2:n.380-3761del|||||||rs76491891||-1||HGNC|HGNC:55758|2||||||||Ensembl||C|C||||chr22:g.29715761del|||||||||||||,-|upstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs76491891|4247|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||C|C||||chr22:g.29715761del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||1/1|NR_186694.1:n.357-3761del|||||||rs76491891||-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29715761del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||1/2|NR_186695.1:n.356+3792del|||||||rs76491891||-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29715761del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000216144,ENST00000416352,ENST00000451180,NM_182527.3,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000232396,ENSG00000232396,164633,122149303,122149303;VEP_SYMBOL=CABP7,CABP7-DT,CABP7-DT,CABP7,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=32108;gnomADv4_1_AC_joint_XX=16087;gnomADv4_1_AC_joint_XY=16021;gnomADv4_1_AF_grpmax_joint=0.454545;gnomADv4_1_AF_joint=0.211265;gnomADv4_1_AF_joint_XX=0.206976;gnomADv4_1_AF_joint_XY=0.215754;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=151980;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3692;gnomADv4_1_nhomalt_joint_XX=1788;gnomADv4_1_nhomalt_joint_XY=1904;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29716081 chr22_29716081_C_G C G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.831;CADD_Rawscore=-0.065367;CSQ=G|upstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs6006228|3922|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||C|C||||chr22:g.29716081C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||1/2|ENST00000416352.1:n.312+3467G>C|||||||rs6006228||-1||HGNC|HGNC:55758|3||||||||Ensembl||C|C||||chr22:g.29716081C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||1/1|ENST00000451180.2:n.379+3467G>C|||||||rs6006228||-1||HGNC|HGNC:55758|2||||||||Ensembl||C|C||||chr22:g.29716081C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs6006228|3922|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||C|C||||chr22:g.29716081C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||1/1|NR_186694.1:n.356+3467G>C|||||||rs6006228||-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29716081C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||1/2|NR_186695.1:n.356+3467G>C|||||||rs6006228||-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29716081C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000216144,ENST00000416352,ENST00000451180,NM_182527.3,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000232396,ENSG00000232396,164633,122149303,122149303;VEP_SYMBOL=CABP7,CABP7-DT,CABP7-DT,CABP7,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=57968;gnomADv4_1_AC_joint_XX=30267;gnomADv4_1_AC_joint_XY=27701;gnomADv4_1_AF_grpmax_joint=0.592514;gnomADv4_1_AF_joint=0.381278;gnomADv4_1_AF_joint_XX=0.389507;gnomADv4_1_AF_joint_XY=0.372676;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152036;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11411;gnomADv4_1_nhomalt_joint_XX=6059;gnomADv4_1_nhomalt_joint_XY=5352;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29716237 chr22_29716237_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=7.339;CADD_Rawscore=0.695138;CSQ=T|upstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs2527345|3766|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||C|C||||chr22:g.29716237C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||1/2|ENST00000416352.1:n.312+3311G>A|||||||rs2527345||-1||HGNC|HGNC:55758|3||||||||Ensembl||C|C||||chr22:g.29716237C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||1/1|ENST00000451180.2:n.379+3311G>A|||||||rs2527345||-1||HGNC|HGNC:55758|2||||||||Ensembl||C|C||||chr22:g.29716237C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs2527345|3766|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||C|C||||chr22:g.29716237C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||1/1|NR_186694.1:n.356+3311G>A|||||||rs2527345||-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29716237C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||1/2|NR_186695.1:n.356+3311G>A|||||||rs2527345||-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29716237C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216144,ENST00000416352,ENST00000451180,NM_182527.3,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000232396,ENSG00000232396,164633,122149303,122149303;VEP_SYMBOL=CABP7,CABP7-DT,CABP7-DT,CABP7,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=31907;gnomADv4_1_AC_joint_XX=16017;gnomADv4_1_AC_joint_XY=15890;gnomADv4_1_AF_grpmax_joint=0.427711;gnomADv4_1_AF_joint=0.209787;gnomADv4_1_AF_joint_XX=0.205964;gnomADv4_1_AF_joint_XY=0.213788;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3612;gnomADv4_1_nhomalt_joint_XX=1763;gnomADv4_1_nhomalt_joint_XY=1849;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29716375 chr22_29716375_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.007;CADD_Rawscore=0.27518;CSQ=C|upstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs737932|3628|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||T|T||||chr22:g.29716375T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||1/2|ENST00000416352.1:n.312+3173A>G|||||||rs737932||-1||HGNC|HGNC:55758|3||||||||Ensembl||T|T||||chr22:g.29716375T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||1/1|ENST00000451180.2:n.379+3173A>G|||||||rs737932||-1||HGNC|HGNC:55758|2||||||||Ensembl||T|T||||chr22:g.29716375T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs737932|3628|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||T|T||||chr22:g.29716375T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||1/1|NR_186694.1:n.356+3173A>G|||||||rs737932||-1||EntrezGene|HGNC:55758|||||||||RefSeq||T|T||||chr22:g.29716375T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||1/2|NR_186695.1:n.356+3173A>G|||||||rs737932||-1||EntrezGene|HGNC:55758|||||||||RefSeq||T|T||||chr22:g.29716375T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000216144,ENST00000416352,ENST00000451180,NM_182527.3,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000232396,ENSG00000232396,164633,122149303,122149303;VEP_SYMBOL=CABP7,CABP7-DT,CABP7-DT,CABP7,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=50100;gnomADv4_1_AC_joint_XX=26175;gnomADv4_1_AC_joint_XY=23925;gnomADv4_1_AF_grpmax_joint=0.58591;gnomADv4_1_AF_joint=0.330444;gnomADv4_1_AF_joint_XX=0.337455;gnomADv4_1_AF_joint_XY=0.323101;gnomADv4_1_AN_grpmax_joint=5110;gnomADv4_1_AN_joint=151614;gnomADv4_1_AN_joint_XX=77566;gnomADv4_1_AN_joint_XY=74048;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9332;gnomADv4_1_nhomalt_joint_XX=4991;gnomADv4_1_nhomalt_joint_XY=4341;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29717912 chr22_29717912_T_A T A 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.939;CADD_Rawscore=0.155704;CSQ=A|upstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs2857632|2091|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||T|T||||chr22:g.29717912T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||1/2|ENST00000416352.1:n.312+1636A>T|||||||rs2857632||-1||HGNC|HGNC:55758|3||||||||Ensembl||T|T||||chr22:g.29717912T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||1/1|ENST00000451180.2:n.379+1636A>T|||||||rs2857632||-1||HGNC|HGNC:55758|2||||||||Ensembl||T|T||||chr22:g.29717912T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs2857632|2091|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||T|T||||chr22:g.29717912T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||1/1|NR_186694.1:n.356+1636A>T|||||||rs2857632||-1||EntrezGene|HGNC:55758|||||||||RefSeq||T|T||||chr22:g.29717912T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||1/2|NR_186695.1:n.356+1636A>T|||||||rs2857632||-1||EntrezGene|HGNC:55758|||||||||RefSeq||T|T||||chr22:g.29717912T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000216144,ENST00000416352,ENST00000451180,NM_182527.3,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000232396,ENSG00000232396,164633,122149303,122149303;VEP_SYMBOL=CABP7,CABP7-DT,CABP7-DT,CABP7,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=99993;gnomADv4_1_AC_joint_XX=52111;gnomADv4_1_AC_joint_XY=47882;gnomADv4_1_AF_grpmax_joint=0.886474;gnomADv4_1_AF_joint=0.710389;gnomADv4_1_AF_joint_XX=0.717901;gnomADv4_1_AF_joint_XY=0.702391;gnomADv4_1_AN_grpmax_joint=4924;gnomADv4_1_AN_joint=140758;gnomADv4_1_AN_joint_XX=72588;gnomADv4_1_AN_joint_XY=68170;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34649;gnomADv4_1_nhomalt_joint_XX=18282;gnomADv4_1_nhomalt_joint_XY=16367;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29717971 chr22_29717971_C_G C G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=3.779;CADD_Rawscore=0.345623;CSQ=G|upstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs2527346|2032|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||C|C||||chr22:g.29717971C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||1/2|ENST00000416352.1:n.312+1577G>C|||||||rs2527346||-1||HGNC|HGNC:55758|3||||||||Ensembl||C|C||||chr22:g.29717971C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||1/1|ENST00000451180.2:n.379+1577G>C|||||||rs2527346||-1||HGNC|HGNC:55758|2||||||||Ensembl||C|C||||chr22:g.29717971C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs2527346|2032|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||C|C||||chr22:g.29717971C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||1/1|NR_186694.1:n.356+1577G>C|||||||rs2527346||-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29717971C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||1/2|NR_186695.1:n.356+1577G>C|||||||rs2527346||-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29717971C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000216144,ENST00000416352,ENST00000451180,NM_182527.3,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000232396,ENSG00000232396,164633,122149303,122149303;VEP_SYMBOL=CABP7,CABP7-DT,CABP7-DT,CABP7,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=22426;gnomADv4_1_AC_joint_XX=11280;gnomADv4_1_AC_joint_XY=11146;gnomADv4_1_AF_grpmax_joint=0.250208;gnomADv4_1_AF_joint=0.147635;gnomADv4_1_AF_joint_XX=0.145196;gnomADv4_1_AF_joint_XY=0.150187;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=151902;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2038;gnomADv4_1_nhomalt_joint_XX=1016;gnomADv4_1_nhomalt_joint_XY=1022;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29718319 chr22_29718319_C_CCTTAA C CCTTAA 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=4.907;CADDIndel_Rawscore=0.44716;CSQ=CTTAA|upstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs56290724|1683|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl|||||||chr22:g.29718321_29718325dup|||||||||||||,CTTAA|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||1/2|ENST00000416352.1:n.312+1224_312+1228dup|||||||rs56290724||-1||HGNC|HGNC:55758|3||||||||Ensembl|||||||chr22:g.29718321_29718325dup|||||||||||||,CTTAA|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||1/1|ENST00000451180.2:n.379+1224_379+1228dup|||||||rs56290724||-1||HGNC|HGNC:55758|2||||||||Ensembl|||||||chr22:g.29718321_29718325dup|||||||||||||,CTTAA|upstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs56290724|1683|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq|||||||chr22:g.29718321_29718325dup|||||||||||||,CTTAA|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||1/1|NR_186694.1:n.356+1224_356+1228dup|||||||rs56290724||-1||EntrezGene|HGNC:55758|||||||||RefSeq|||||||chr22:g.29718321_29718325dup|||||||||||||,CTTAA|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||1/2|NR_186695.1:n.356+1224_356+1228dup|||||||rs56290724||-1||EntrezGene|HGNC:55758|||||||||RefSeq|||||||chr22:g.29718321_29718325dup|||||||||||||;TYPE=INDEL;VEP_Allele=CTTAA,CTTAA,CTTAA,CTTAA,CTTAA,CTTAA;VEP_Feature=ENST00000216144,ENST00000416352,ENST00000451180,NM_182527.3,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000232396,ENSG00000232396,164633,122149303,122149303;VEP_SYMBOL=CABP7,CABP7-DT,CABP7-DT,CABP7,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=115355;gnomADv4_1_AC_joint_XX=59497;gnomADv4_1_AC_joint_XY=55858;gnomADv4_1_AF_grpmax_joint=0.909603;gnomADv4_1_AF_joint=0.761007;gnomADv4_1_AF_joint_XX=0.767446;gnomADv4_1_AF_joint_XY=0.754267;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=151582;gnomADv4_1_AN_joint_XX=77526;gnomADv4_1_AN_joint_XY=74056;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=44506;gnomADv4_1_nhomalt_joint_XX=23149;gnomADv4_1_nhomalt_joint_XY=21357;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29718344 chr22_29718344_T_C T C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=6.359;CADD_Rawscore=0.590001;CSQ=C|upstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs2857633|1659|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||T|T||||chr22:g.29718344T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||1/2|ENST00000416352.1:n.312+1204A>G|||||||rs2857633||-1||HGNC|HGNC:55758|3||||||||Ensembl||T|T||||chr22:g.29718344T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||1/1|ENST00000451180.2:n.379+1204A>G|||||||rs2857633||-1||HGNC|HGNC:55758|2||||||||Ensembl||T|T||||chr22:g.29718344T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs2857633|1659|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||T|T||||chr22:g.29718344T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||1/1|NR_186694.1:n.356+1204A>G|||||||rs2857633||-1||EntrezGene|HGNC:55758|||||||||RefSeq||T|T||||chr22:g.29718344T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||1/2|NR_186695.1:n.356+1204A>G|||||||rs2857633||-1||EntrezGene|HGNC:55758|||||||||RefSeq||T|T||||chr22:g.29718344T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000216144,ENST00000416352,ENST00000451180,NM_182527.3,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000232396,ENSG00000232396,164633,122149303,122149303;VEP_SYMBOL=CABP7,CABP7-DT,CABP7-DT,CABP7,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=115978;gnomADv4_1_AC_joint_XX=59791;gnomADv4_1_AC_joint_XY=56187;gnomADv4_1_AF_grpmax_joint=0.909795;gnomADv4_1_AF_joint=0.762702;gnomADv4_1_AF_joint_XX=0.769056;gnomADv4_1_AF_joint_XY=0.756055;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=44872;gnomADv4_1_nhomalt_joint_XX=23322;gnomADv4_1_nhomalt_joint_XY=21550;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29720703 chr22_29720703_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=9.913;CADD_Rawscore=0.963949;CSQ=T|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||1/4|ENST00000216144.4:c.109+170C>T|||||||rs2527347||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||C|C||||chr22:g.29720703C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||||||||||rs2527347|844|-1||HGNC|HGNC:55758|3||||||||Ensembl||C|C||||chr22:g.29720703C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||||||||||rs2527347|777|-1||HGNC|HGNC:55758|2||||||||Ensembl||C|C||||chr22:g.29720703C>T|||||||||||||,T|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||1/4|NM_182527.3:c.109+170C>T|||||||rs2527347||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||C|C||||chr22:g.29720703C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||||||||||rs2527347|800|-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29720703C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||||||||||rs2527347|800|-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29720703C>T|||||||||||||;SpliceAI=T|CABP7|0.00|0.00|0.00|0.00|27|-14|-13|-20;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216144,ENST00000416352,ENST00000451180,NM_182527.3,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000232396,ENSG00000232396,164633,122149303,122149303;VEP_SYMBOL=CABP7,CABP7-DT,CABP7-DT,CABP7,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=32431;gnomADv4_1_AC_joint_XX=16207;gnomADv4_1_AC_joint_XY=16224;gnomADv4_1_AF_grpmax_joint=0.418084;gnomADv4_1_AF_joint=0.2141;gnomADv4_1_AF_joint_XX=0.209317;gnomADv4_1_AF_joint_XY=0.219101;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=151476;gnomADv4_1_AN_joint_XX=77428;gnomADv4_1_AN_joint_XY=74048;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3697;gnomADv4_1_nhomalt_joint_XX=1774;gnomADv4_1_nhomalt_joint_XY=1923;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29721034 chr22_29721034_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=13.46;CADD_Rawscore=1.38302;CSQ=A|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||1/4|ENST00000216144.4:c.109+501G>A|||||||rs79665861||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||G|G||||chr22:g.29721034G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||||||||||rs79665861|1175|-1||HGNC|HGNC:55758|3||||||||Ensembl||G|G||||chr22:g.29721034G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||||||||||rs79665861|1108|-1||HGNC|HGNC:55758|2||||||||Ensembl||G|G||||chr22:g.29721034G>A|||||||||||||,A|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||1/4|NM_182527.3:c.109+501G>A|||||||rs79665861||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||G|G||||chr22:g.29721034G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||||||||||rs79665861|1131|-1||EntrezGene|HGNC:55758|||||||||RefSeq||G|G||||chr22:g.29721034G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||||||||||rs79665861|1131|-1||EntrezGene|HGNC:55758|||||||||RefSeq||G|G||||chr22:g.29721034G>A|||||||||||||;SpliceAI=A|CABP7|0.00|0.00|0.00|0.00|-38|48|-3|1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000216144,ENST00000416352,ENST00000451180,NM_182527.3,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000232396,ENSG00000232396,164633,122149303,122149303;VEP_SYMBOL=CABP7,CABP7-DT,CABP7-DT,CABP7,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=16770;gnomADv4_1_AC_joint_XX=9079;gnomADv4_1_AC_joint_XY=7691;gnomADv4_1_AF_grpmax_joint=0.172858;gnomADv4_1_AF_joint=0.110184;gnomADv4_1_AF_joint_XX=0.116727;gnomADv4_1_AF_joint_XY=0.103346;gnomADv4_1_AN_grpmax_joint=67940;gnomADv4_1_AN_joint=152200;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1181;gnomADv4_1_nhomalt_joint_XX=671;gnomADv4_1_nhomalt_joint_XY=510;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29721465 chr22_29721465_C_T C T 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.579;CADD_Rawscore=0.232138;CSQ=T|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||1/4|ENST00000216144.4:c.109+932C>T|||||||rs56686185||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||C|C||||chr22:g.29721465C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||||||||||rs56686185|1606|-1||HGNC|HGNC:55758|3||||||||Ensembl||C|C||||chr22:g.29721465C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||||||||||rs56686185|1539|-1||HGNC|HGNC:55758|2||||||||Ensembl||C|C||||chr22:g.29721465C>T|||||||||||||,T|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||1/4|NM_182527.3:c.109+932C>T|||||||rs56686185||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||C|C||||chr22:g.29721465C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||||||||||rs56686185|1562|-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29721465C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||||||||||rs56686185|1562|-1||EntrezGene|HGNC:55758|||||||||RefSeq||C|C||||chr22:g.29721465C>T|||||||||||||;SpliceAI=T|CABP7|0.00|0.00|0.00|0.00|35|1|-5|19;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216144,ENST00000416352,ENST00000451180,NM_182527.3,NR_186694.1,NR_186695.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000232396,ENSG00000232396,164633,122149303,122149303;VEP_SYMBOL=CABP7,CABP7-DT,CABP7-DT,CABP7,CABP7-DT,CABP7-DT;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=22065;gnomADv4_1_AC_joint_XX=11057;gnomADv4_1_AC_joint_XY=11008;gnomADv4_1_AF_grpmax_joint=0.238688;gnomADv4_1_AF_joint=0.145147;gnomADv4_1_AF_joint_XX=0.142267;gnomADv4_1_AF_joint_XY=0.14816;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2037;gnomADv4_1_nhomalt_joint_XX=1008;gnomADv4_1_nhomalt_joint_XY=1029;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29723965 chr22_29723965_T_G T G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=9.366;CADD_Rawscore=0.910968;CSQ=G|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||1/4|ENST00000216144.4:c.109+3432T>G|||||||rs5763435||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||T|T||||chr22:g.29723965T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000416352|lncRNA||||||||||rs5763435|4106|-1||HGNC|HGNC:55758|3||||||||Ensembl||T|T||||chr22:g.29723965T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CABP7-DT|ENSG00000232396|Transcript|ENST00000451180|lncRNA||||||||||rs5763435|4039|-1||HGNC|HGNC:55758|2||||||||Ensembl||T|T||||chr22:g.29723965T>G|||||||||||||,G|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||1/4|NM_182527.3:c.109+3432T>G|||||||rs5763435||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||T|T||||chr22:g.29723965T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186694.1|lncRNA||||||||||rs5763435|4062|-1||EntrezGene|HGNC:55758|||||||||RefSeq||T|T||||chr22:g.29723965T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CABP7-DT|122149303|Transcript|NR_186695.1|lncRNA||||||||||rs5763435|4062|-1||EntrezGene|HGNC:55758|||||||||RefSeq||T|T||||chr22:g.29723965T>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_58ZQNZ|CTCF_binding_site||||||||||rs5763435|||||||||||||||||||||chr22:g.29723965T>G|||||||||||||;SpliceAI=G|CABP7|0.00|0.00|0.04|0.00|47|-35|-36|5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G;VEP_Feature=ENST00000216144,ENST00000416352,ENST00000451180,NM_182527.3,NR_186694.1,NR_186695.1,ENSR22_58ZQNZ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100314,ENSG00000232396,ENSG00000232396,164633,122149303,122149303,.;VEP_SYMBOL=CABP7,CABP7-DT,CABP7-DT,CABP7,CABP7-DT,CABP7-DT,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33317;gnomADv4_1_AC_joint_XX=16707;gnomADv4_1_AC_joint_XY=16610;gnomADv4_1_AF_grpmax_joint=0.424274;gnomADv4_1_AF_joint=0.21915;gnomADv4_1_AF_joint_XX=0.214992;gnomADv4_1_AF_joint_XY=0.223499;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3896;gnomADv4_1_nhomalt_joint_XX=1893;gnomADv4_1_nhomalt_joint_XY=2003;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29724961 chr22_29724961_G_C G C 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=3.278;CADD_Rawscore=0.300525;CSQ=C|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||1/4|ENST00000216144.4:c.110-2701G>C|||||||rs737978||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||G|G||||chr22:g.29724961G>C|||||||||||||,C|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||1/4|NM_182527.3:c.110-2701G>C|||||||rs737978||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||G|G||||chr22:g.29724961G>C|||||||||||||;SpliceAI=C|CABP7|0.00|0.00|0.00|0.00|5|0|35|0;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000216144,NM_182527.3;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000100314,164633;VEP_SYMBOL=CABP7,CABP7;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=21720;gnomADv4_1_AC_joint_XX=11437;gnomADv4_1_AC_joint_XY=10283;gnomADv4_1_AF_grpmax_joint=0.181008;gnomADv4_1_AF_joint=0.142692;gnomADv4_1_AF_joint_XX=0.147024;gnomADv4_1_AF_joint_XY=0.138164;gnomADv4_1_AN_grpmax_joint=67986;gnomADv4_1_AN_joint=152216;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1620;gnomADv4_1_nhomalt_joint_XX=868;gnomADv4_1_nhomalt_joint_XY=752;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29725073 chr22_29725073_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.424;CADD_Rawscore=-0.234296;CSQ=A|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||1/4|ENST00000216144.4:c.110-2589G>A|||||||rs9620919||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||G|G||||chr22:g.29725073G>A|||||||||||||,A|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||1/4|NM_182527.3:c.110-2589G>A|||||||rs9620919||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||G|G||||chr22:g.29725073G>A|||||||||||||;SpliceAI=A|CABP7|0.03|0.00|0.00|0.00|5|1|5|-41;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000216144,NM_182527.3;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000100314,164633;VEP_SYMBOL=CABP7,CABP7;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=54204;gnomADv4_1_AC_joint_XX=27522;gnomADv4_1_AC_joint_XY=26682;gnomADv4_1_AF_grpmax_joint=0.588101;gnomADv4_1_AF_joint=0.356849;gnomADv4_1_AF_joint_XX=0.354263;gnomADv4_1_AF_joint_XY=0.359557;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=151896;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=11006;gnomADv4_1_nhomalt_joint_XX=5528;gnomADv4_1_nhomalt_joint_XY=5478;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29725296 chr22_29725296_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.152;CADD_Rawscore=-0.499044;CSQ=A|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||1/4|ENST00000216144.4:c.110-2366G>A|||||||rs9614037||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||G|G||||chr22:g.29725296G>A|||1||||||||||,A|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||1/4|NM_182527.3:c.110-2366G>A|||||||rs9614037||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||G|G||||chr22:g.29725296G>A|||1||||||||||;SpliceAI=A|CABP7|0.00|0.00|0.00|0.00|19|-39|3|37;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000216144,NM_182527.3;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000100314,164633;VEP_SYMBOL=CABP7,CABP7;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=54188;gnomADv4_1_AC_joint_XX=27500;gnomADv4_1_AC_joint_XY=26688;gnomADv4_1_AF_grpmax_joint=0.584513;gnomADv4_1_AF_joint=0.356768;gnomADv4_1_AF_joint_XX=0.354162;gnomADv4_1_AF_joint_XY=0.359492;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=151886;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=11008;gnomADv4_1_nhomalt_joint_XX=5529;gnomADv4_1_nhomalt_joint_XY=5479;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29725465 chr22_29725465_C_T C T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=5.973;CADD_Rawscore=0.55044;CSQ=T|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||1/4|ENST00000216144.4:c.110-2197C>T|||||||rs9614038||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||C|C||||chr22:g.29725465C>T|||||||||||||,T|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||1/4|NM_182527.3:c.110-2197C>T|||||||rs9614038||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||C|C||||chr22:g.29725465C>T|||||||||||||;SpliceAI=T|CABP7|0.00|0.00|0.00|0.00|5|-14|-44|6;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000216144,NM_182527.3;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000100314,164633;VEP_SYMBOL=CABP7,CABP7;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=34773;gnomADv4_1_AC_joint_XX=17510;gnomADv4_1_AC_joint_XY=17263;gnomADv4_1_AF_grpmax_joint=0.434954;gnomADv4_1_AF_joint=0.228908;gnomADv4_1_AF_joint_XX=0.225453;gnomADv4_1_AF_joint_XY=0.232523;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=151908;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4241;gnomADv4_1_nhomalt_joint_XX=2091;gnomADv4_1_nhomalt_joint_XY=2150;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29725466 chr22_29725466_G_C G C 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=9.156;CADD_Rawscore=0.889563;CSQ=C|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||1/4|ENST00000216144.4:c.110-2196G>C|||||||rs9614039||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||G|G||||chr22:g.29725466G>C|||||||||||||,C|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||1/4|NM_182527.3:c.110-2196G>C|||||||rs9614039||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||G|G||||chr22:g.29725466G>C|||||||||||||;SpliceAI=C|CABP7|0.00|0.00|0.00|0.00|6|-15|-45|21;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENST00000216144,NM_182527.3;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000100314,164633;VEP_SYMBOL=CABP7,CABP7;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=34775;gnomADv4_1_AC_joint_XX=17513;gnomADv4_1_AC_joint_XY=17262;gnomADv4_1_AF_grpmax_joint=0.43462;gnomADv4_1_AF_joint=0.2289;gnomADv4_1_AF_joint_XX=0.225485;gnomADv4_1_AF_joint_XY=0.232472;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=151922;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4241;gnomADv4_1_nhomalt_joint_XX=2091;gnomADv4_1_nhomalt_joint_XY=2150;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29725588 chr22_29725588_A_T A T 60 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.205;CADD_Rawscore=-0.420678;CSQ=T|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||1/4|ENST00000216144.4:c.110-2074A>T|||||||rs5763436||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||A|A||||chr22:g.29725588A>T|||1||||||||||,T|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||1/4|NM_182527.3:c.110-2074A>T|||||||rs5763436||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||A|A||||chr22:g.29725588A>T|||1||||||||||;SpliceAI=T|CABP7|0.00|0.00|0.00|0.00|-41|2|-20|-9;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000216144,NM_182527.3;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000100314,164633;VEP_SYMBOL=CABP7,CABP7;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=47891;gnomADv4_1_AC_joint_XX=25010;gnomADv4_1_AC_joint_XY=22881;gnomADv4_1_AF_grpmax_joint=0.558513;gnomADv4_1_AF_joint=0.314902;gnomADv4_1_AF_joint_XX=0.321697;gnomADv4_1_AF_joint_XY=0.307797;gnomADv4_1_AN_grpmax_joint=5110;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8664;gnomADv4_1_nhomalt_joint_XX=4631;gnomADv4_1_nhomalt_joint_XY=4033;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29725659 chr22_29725659_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.185;CADD_Rawscore=0.291894;CSQ=A|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||1/4|ENST00000216144.4:c.110-2003G>A|||||||rs9614040||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||G|G||||chr22:g.29725659G>A|||||||||||||,A|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||1/4|NM_182527.3:c.110-2003G>A|||||||rs9614040||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||G|G||||chr22:g.29725659G>A|||||||||||||;SpliceAI=A|CABP7|0.00|0.00|0.00|0.00|-3|42|-3|32;TYPE=SNP;VEP_Allele=A,A;VEP_Feature=ENST00000216144,NM_182527.3;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000100314,164633;VEP_SYMBOL=CABP7,CABP7;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=100161;gnomADv4_1_AC_joint_XX=51559;gnomADv4_1_AC_joint_XY=48602;gnomADv4_1_AF_grpmax_joint=0.759943;gnomADv4_1_AF_joint=0.658989;gnomADv4_1_AF_joint_XX=0.663531;gnomADv4_1_AF_joint_XY=0.654238;gnomADv4_1_AN_grpmax_joint=41486;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=33379;gnomADv4_1_nhomalt_joint_XX=17282;gnomADv4_1_nhomalt_joint_XY=16097;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29725782 chr22_29725782_CGA_C CGA C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.915;CADDIndel_Rawscore=-0.040856;CSQ=-|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||1/4|ENST00000216144.4:c.110-1876_110-1875del|||||||rs34674413||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||GA|GA|||3|chr22:g.29725786_29725787del|||||||||||||,-|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||1/4|NM_182527.3:c.110-1876_110-1875del|||||||rs34674413||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||GA|GA|||3|chr22:g.29725786_29725787del|||||||||||||;SpliceAI=C|CABP7|0.00|0.00|0.00|0.00|-3|-35|24|-14;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENST00000216144,NM_182527.3;VEP_Feature_type=Transcript,Transcript;VEP_Gene=ENSG00000100314,164633;VEP_SYMBOL=CABP7,CABP7;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=47510;gnomADv4_1_AC_joint_XX=24651;gnomADv4_1_AC_joint_XY=22859;gnomADv4_1_AF_grpmax_joint=0.331229;gnomADv4_1_AF_joint=0.312492;gnomADv4_1_AF_joint_XX=0.317161;gnomADv4_1_AF_joint_XY=0.307608;gnomADv4_1_AN_grpmax_joint=67950;gnomADv4_1_AN_joint=152036;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7536;gnomADv4_1_nhomalt_joint_XX=4035;gnomADv4_1_nhomalt_joint_XY=3501;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29726290 chr22_29726290_C_T C T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.084;CADD_Rawscore=-0.659578;CSQ=T|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||1/4|ENST00000216144.4:c.110-1372C>T|||||||rs140092||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||C|C||||chr22:g.29726290C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||||||||||rs140092|4666|-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29726290C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||||||||||rs140092|4666|-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29726290C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||||||||||rs140092|4666|-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29726290C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||||||||||rs140092|4666|-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29726290C>T|||||||||||||,T|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||1/4|NM_182527.3:c.110-1372C>T|||||||rs140092||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||C|C||||chr22:g.29726290C>T|||||||||||||;SpliceAI=T|CABP7|0.00|0.00|0.00|0.00|8|-49|-11|-49;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=54682;gnomADv4_1_AC_joint_XX=28588;gnomADv4_1_AC_joint_XY=26094;gnomADv4_1_AF_grpmax_joint=0.564033;gnomADv4_1_AF_joint=0.35966;gnomADv4_1_AF_joint_XX=0.367786;gnomADv4_1_AF_joint_XY=0.35116;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=152038;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10997;gnomADv4_1_nhomalt_joint_XX=5849;gnomADv4_1_nhomalt_joint_XY=5148;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29726668 chr22_29726668_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.083;CADD_Rawscore=0.002969;CSQ=T|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||1/4|ENST00000216144.4:c.110-994C>T|||||||rs7287478||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||C|C||||chr22:g.29726668C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||||||||||rs7287478|4288|-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29726668C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||||||||||rs7287478|4288|-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29726668C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||||||||||rs7287478|4288|-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29726668C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||||||||||rs7287478|4288|-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29726668C>T|||||||||||||,T|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||1/4|NM_182527.3:c.110-994C>T|||||||rs7287478||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||C|C||||chr22:g.29726668C>T|||||||||||||;SpliceAI=T|CABP7|0.00|0.00|0.00|0.00|14|-21|3|18;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=55626;gnomADv4_1_AC_joint_XX=28411;gnomADv4_1_AC_joint_XY=27215;gnomADv4_1_AF_grpmax_joint=0.557042;gnomADv4_1_AF_joint=0.365576;gnomADv4_1_AF_joint_XX=0.365264;gnomADv4_1_AF_joint_XY=0.365901;gnomADv4_1_AN_grpmax_joint=41478;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11379;gnomADv4_1_nhomalt_joint_XX=5830;gnomADv4_1_nhomalt_joint_XY=5549;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29727040 chr22_29727040_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=3.145;CADD_Rawscore=0.288222;CSQ=A|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||1/4|ENST00000216144.4:c.110-622G>A|||||||rs9614041||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||G|G||||chr22:g.29727040G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||||||||||rs9614041|3916|-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29727040G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||||||||||rs9614041|3916|-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29727040G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||||||||||rs9614041|3916|-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29727040G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||||||||||rs9614041|3916|-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29727040G>A|||||||||||||,A|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||1/4|NM_182527.3:c.110-622G>A|||||||rs9614041||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||G|G||||chr22:g.29727040G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7W9S|enhancer||||||||||rs9614041|||||||||||||||||||||chr22:g.29727040G>A|||||||||||||;SpliceAI=A|CABP7|0.00|0.00|0.00|0.00|6|-26|6|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3,ENSR22_B7W9S;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633,.;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7820;gnomADv4_1_AC_joint_XX=3777;gnomADv4_1_AC_joint_XY=4043;gnomADv4_1_AF_grpmax_joint=0.0802829;gnomADv4_1_AF_joint=0.0513939;gnomADv4_1_AF_joint_XX=0.0485526;gnomADv4_1_AF_joint_XY=0.0543662;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=304;gnomADv4_1_nhomalt_joint_XX=140;gnomADv4_1_nhomalt_joint_XY=164;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29727209 chr22_29727209_T_TTAAGGATC T TTAAGGATC 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=5.799;CADDIndel_Rawscore=0.533012;CSQ=TAAGGATC|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||1/4|ENST00000216144.4:c.110-444_110-437dup|||||||rs140093||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||||||16|chr22:g.29727218_29727225dup|||||||||||||,TAAGGATC|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||||||||||rs140093|3746|-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl|||||||chr22:g.29727218_29727225dup|||||||||||||,TAAGGATC|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||||||||||rs140093|3746|-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq|||||||chr22:g.29727218_29727225dup|||||||||||||,TAAGGATC|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||||||||||rs140093|3746|-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq|||||||chr22:g.29727218_29727225dup|||||||||||||,TAAGGATC|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||||||||||rs140093|3746|-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq|||||||chr22:g.29727218_29727225dup|||||||||||||,TAAGGATC|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||1/4|NM_182527.3:c.110-444_110-437dup|||||||rs140093||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||||||16|chr22:g.29727218_29727225dup|||||||||||||,TAAGGATC|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7W9S|enhancer||||||||||rs140093|||||||||||||||||||||chr22:g.29727218_29727225dup|||||||||||||;TYPE=INDEL;VEP_Allele=TAAGGATC,TAAGGATC,TAAGGATC,TAAGGATC,TAAGGATC,TAAGGATC,TAAGGATC;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3,ENSR22_B7W9S;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633,.;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64506;gnomADv4_1_AC_joint_XX=33401;gnomADv4_1_AC_joint_XY=31105;gnomADv4_1_AF_grpmax_joint=0.647332;gnomADv4_1_AF_joint=0.428976;gnomADv4_1_AF_joint_XX=0.433329;gnomADv4_1_AF_joint_XY=0.424398;gnomADv4_1_AN_grpmax_joint=4948;gnomADv4_1_AN_joint=150372;gnomADv4_1_AN_joint_XX=77080;gnomADv4_1_AN_joint_XY=73292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14617;gnomADv4_1_nhomalt_joint_XX=7623;gnomADv4_1_nhomalt_joint_XY=6994;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29728380 chr22_29728380_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.629;CADD_Rawscore=0.237395;CSQ=T|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||2/4|ENST00000216144.4:c.254-250C>T|||||||rs140094||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||C|C||||chr22:g.29728380C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||||||||||rs140094|2576|-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29728380C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||||||||||rs140094|2576|-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29728380C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||||||||||rs140094|2576|-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29728380C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||||||||||rs140094|2576|-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29728380C>T|||||||||||||,T|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||2/4|NM_182527.3:c.254-250C>T|||||||rs140094||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||C|C||||chr22:g.29728380C>T|||||||||||||;SpliceAI=T|CABP7|0.02|0.00|0.00|0.00|38|-8|-44|32;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=54097;gnomADv4_1_AC_joint_XX=28112;gnomADv4_1_AC_joint_XY=25985;gnomADv4_1_AF_grpmax_joint=0.622473;gnomADv4_1_AF_joint=0.355911;gnomADv4_1_AF_joint_XX=0.361718;gnomADv4_1_AF_joint_XY=0.349834;gnomADv4_1_AN_grpmax_joint=5144;gnomADv4_1_AN_joint=151996;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10918;gnomADv4_1_nhomalt_joint_XX=5790;gnomADv4_1_nhomalt_joint_XY=5128;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29728461 chr22_29728461_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.455;CADD_Rawscore=0.218733;CSQ=T|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||2/4|ENST00000216144.4:c.254-169C>T|||||||rs140095||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||C|C||||chr22:g.29728461C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||||||||||rs140095|2495|-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29728461C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||||||||||rs140095|2495|-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29728461C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||||||||||rs140095|2495|-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29728461C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||||||||||rs140095|2495|-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29728461C>T|||||||||||||,T|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||2/4|NM_182527.3:c.254-169C>T|||||||rs140095||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||C|C||||chr22:g.29728461C>T|||||||||||||;SpliceAI=T|CABP7|0.00|0.00|0.00|0.00|10|-43|-2|5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=46829;gnomADv4_1_AC_joint_XX=24441;gnomADv4_1_AC_joint_XY=22388;gnomADv4_1_AF_grpmax_joint=0.601163;gnomADv4_1_AF_joint=0.307851;gnomADv4_1_AF_joint_XX=0.314354;gnomADv4_1_AF_joint_XY=0.301052;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8511;gnomADv4_1_nhomalt_joint_XX=4559;gnomADv4_1_nhomalt_joint_XY=3952;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29728625 chr22_29728625_A_T A T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.638;CADD_Rawscore=-0.13237;CSQ=T|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant|LOW|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||2/4|ENST00000216144.4:c.254-5A>T|||||||rs140096||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||A|A||||chr22:g.29728625A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||||||||||rs140096|2331|-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29728625A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||||||||||rs140096|2331|-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29728625A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||||||||||rs140096|2331|-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29728625A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||||||||||rs140096|2331|-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29728625A>T|||||||||||||,T|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant|LOW|CABP7|164633|Transcript|NM_182527.3|protein_coding||2/4|NM_182527.3:c.254-5A>T|||||||rs140096||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||A|A||||chr22:g.29728625A>T|||||||||||||;SpliceAI=T|CABP7|0.00|0.00|0.00|0.00|5|-40|29|4;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=698650;gnomADv4_1_AC_joint_XX=357567;gnomADv4_1_AC_joint_XY=341083;gnomADv4_1_AF_grpmax_joint=0.651974;gnomADv4_1_AF_joint=0.438985;gnomADv4_1_AF_joint_XX=0.447122;gnomADv4_1_AF_joint_XY=0.430766;gnomADv4_1_AN_grpmax_joint=44738;gnomADv4_1_AN_joint=1591514;gnomADv4_1_AN_joint_XX=799708;gnomADv4_1_AN_joint_XY=791806;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=159102;gnomADv4_1_nhomalt_joint_XX=82071;gnomADv4_1_nhomalt_joint_XY=77031;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29728844 chr22_29728844_T_C T C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.506;CADD_Rawscore=-0.190128;CSQ=C|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||3/4|ENST00000216144.4:c.366+102T>C|||||||rs140097||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||T|T||||chr22:g.29728844T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||||||||||rs140097|2112|-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29728844T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||||||||||rs140097|2112|-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29728844T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||||||||||rs140097|2112|-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29728844T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||||||||||rs140097|2112|-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29728844T>C|||||||||||||,C|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||3/4|NM_182527.3:c.366+102T>C|||||||rs140097||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||T|T||||chr22:g.29728844T>C|||||||||||||;SpliceAI=C|CABP7|0.00|0.00|0.00|0.00|38|36|-20|-41;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=443136;gnomADv4_1_AC_joint_XX=222750;gnomADv4_1_AC_joint_XY=220386;gnomADv4_1_AF_grpmax_joint=0.655244;gnomADv4_1_AF_joint=0.430732;gnomADv4_1_AF_joint_XX=0.440724;gnomADv4_1_AF_joint_XY=0.421082;gnomADv4_1_AN_grpmax_joint=39776;gnomADv4_1_AN_joint=1028798;gnomADv4_1_AN_joint_XX=505418;gnomADv4_1_AN_joint_XY=523380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=100310;gnomADv4_1_nhomalt_joint_XX=50963;gnomADv4_1_nhomalt_joint_XY=49347;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29728979 chr22_29728979_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.363;CADD_Rawscore=-0.273283;CSQ=T|intron_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||3/4|ENST00000216144.4:c.367-76C>T|||||||rs9614042||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||C|C||||chr22:g.29728979C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||||||||||rs9614042|1977|-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29728979C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||||||||||rs9614042|1977|-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29728979C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||||||||||rs9614042|1977|-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29728979C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||||||||||rs9614042|1977|-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29728979C>T|||||||||||||,T|intron_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||3/4|NM_182527.3:c.367-76C>T|||||||rs9614042||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||C|C||||chr22:g.29728979C>T|||||||||||||;SpliceAI=T|CABP7|0.00|0.00|0.00|0.00|50|-26|2|-26;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=451927;gnomADv4_1_AC_joint_XX=223336;gnomADv4_1_AC_joint_XY=228591;gnomADv4_1_AF_grpmax_joint=0.576632;gnomADv4_1_AF_joint=0.292392;gnomADv4_1_AF_joint_XX=0.285354;gnomADv4_1_AF_joint_XY=0.299612;gnomADv4_1_AN_grpmax_joint=86818;gnomADv4_1_AN_joint=1545620;gnomADv4_1_AN_joint_XX=782664;gnomADv4_1_AN_joint_XY=762956;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=72760;gnomADv4_1_nhomalt_joint_XX=34275;gnomADv4_1_nhomalt_joint_XY=38485;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29730655 chr22_29730655_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.219;CADD_Rawscore=-0.403021;CSQ=C|3_prime_UTR_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding|5/5||ENST00000216144.4:c.*1086T>C||2156|||||rs140098||1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||T|T||||chr22:g.29730655T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||||||||||rs140098|301|-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29730655T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||||||||||rs140098|301|-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29730655T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||||||||||rs140098|301|-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29730655T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||||||||||rs140098|301|-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29730655T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding|5/5||NM_182527.3:c.*1086T>C||2156|||||rs140098||1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||T|T||||chr22:g.29730655T>C|||||||||||||;SpliceAI=C|CABP7|0.00|0.00|0.00|0.00|-42|14|23|-43;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=93033;gnomADv4_1_AC_joint_XX=48014;gnomADv4_1_AC_joint_XY=45019;gnomADv4_1_AF_grpmax_joint=0.775371;gnomADv4_1_AF_joint=0.610645;gnomADv4_1_AF_joint_XX=0.61675;gnomADv4_1_AF_joint_XY=0.604266;gnomADv4_1_AN_grpmax_joint=41544;gnomADv4_1_AN_joint=152352;gnomADv4_1_AN_joint_XX=77850;gnomADv4_1_AN_joint_XY=74502;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=29374;gnomADv4_1_nhomalt_joint_XX=15300;gnomADv4_1_nhomalt_joint_XY=14074;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29732032 chr22_29732032_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=6.993;CADD_Rawscore=0.657367;CSQ=C|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs140099|199|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||T|T||||chr22:g.29732032T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.384-678A>G|||||||rs140099||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29732032T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.384-678A>G|||||||rs140099||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29732032T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.384-678A>G|||||||rs140099||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29732032T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.384-678A>G|||||||rs140099||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29732032T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs140099|199|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||T|T||||chr22:g.29732032T>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.01|0.00|22|-3|-45|18;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=81168;gnomADv4_1_AC_joint_XX=42102;gnomADv4_1_AC_joint_XY=39066;gnomADv4_1_AF_grpmax_joint=0.617624;gnomADv4_1_AF_joint=0.533986;gnomADv4_1_AF_joint_XX=0.54163;gnomADv4_1_AF_joint_XY=0.525986;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152004;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21956;gnomADv4_1_nhomalt_joint_XX=11529;gnomADv4_1_nhomalt_joint_XY=10427;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29732251 chr22_29732251_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.909;CADD_Rawscore=0.265687;CSQ=T|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs140100|418|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||C|C||||chr22:g.29732251C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.384-897G>A|||||||rs140100||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29732251C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.384-897G>A|||||||rs140100||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29732251C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.384-897G>A|||||||rs140100||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29732251C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.384-897G>A|||||||rs140100||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29732251C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs140100|418|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||C|C||||chr22:g.29732251C>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|24|-26|-25|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=66748;gnomADv4_1_AC_joint_XX=34929;gnomADv4_1_AC_joint_XY=31819;gnomADv4_1_AF_grpmax_joint=0.600387;gnomADv4_1_AF_joint=0.438802;gnomADv4_1_AF_joint_XX=0.449259;gnomADv4_1_AF_joint_XY=0.42787;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15010;gnomADv4_1_nhomalt_joint_XX=8011;gnomADv4_1_nhomalt_joint_XY=6999;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29732391 chr22_29732391_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.971;CADD_Rawscore=-0.025461;CSQ=T|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs140101|558|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||C|C||||chr22:g.29732391C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.384-1037G>A|||||||rs140101||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29732391C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.384-1037G>A|||||||rs140101||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29732391C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.384-1037G>A|||||||rs140101||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29732391C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.384-1037G>A|||||||rs140101||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29732391C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs140101|558|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||C|C||||chr22:g.29732391C>T|||||||||||||;SpliceAI=T|ZMAT5|0.01|0.00|0.00|0.00|-2|31|-2|-9;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=54784;gnomADv4_1_AC_joint_XX=28571;gnomADv4_1_AC_joint_XY=26213;gnomADv4_1_AF_grpmax_joint=0.600619;gnomADv4_1_AF_joint=0.360317;gnomADv4_1_AF_joint_XX=0.367747;gnomADv4_1_AF_joint_XY=0.352553;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74352;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10971;gnomADv4_1_nhomalt_joint_XX=5854;gnomADv4_1_nhomalt_joint_XY=5117;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29732454 chr22_29732454_T_C T C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=3.774;CADD_Rawscore=0.345135;CSQ=C|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs140102|621|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||T|T||||chr22:g.29732454T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.384-1100A>G|||||||rs140102||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29732454T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.384-1100A>G|||||||rs140102||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29732454T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.384-1100A>G|||||||rs140102||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29732454T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.384-1100A>G|||||||rs140102||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29732454T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs140102|621|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||T|T||||chr22:g.29732454T>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|-1|-22|-9|22;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=57120;gnomADv4_1_AC_joint_XX=29723;gnomADv4_1_AC_joint_XY=27397;gnomADv4_1_AF_grpmax_joint=0.600272;gnomADv4_1_AF_joint=0.3757;gnomADv4_1_AF_joint_XX=0.382506;gnomADv4_1_AF_joint_XY=0.368586;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152036;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12302;gnomADv4_1_nhomalt_joint_XX=6546;gnomADv4_1_nhomalt_joint_XY=5756;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29732671 chr22_29732671_T_C T C 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.284;CADD_Rawscore=-0.335745;CSQ=C|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs140103|838|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||T|T||||chr22:g.29732671T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.384-1317A>G|||||||rs140103||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29732671T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.384-1317A>G|||||||rs140103||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29732671T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.384-1317A>G|||||||rs140103||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29732671T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.384-1317A>G|||||||rs140103||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29732671T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs140103|838|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||T|T||||chr22:g.29732671T>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|41|-33|-40|10;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=69435;gnomADv4_1_AC_joint_XX=36428;gnomADv4_1_AC_joint_XY=33007;gnomADv4_1_AF_grpmax_joint=0.605754;gnomADv4_1_AF_joint=0.482543;gnomADv4_1_AF_joint_XX=0.488717;gnomADv4_1_AF_joint_XY=0.475907;gnomADv4_1_AN_grpmax_joint=4936;gnomADv4_1_AN_joint=143894;gnomADv4_1_AN_joint_XX=74538;gnomADv4_1_AN_joint_XY=69356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16444;gnomADv4_1_nhomalt_joint_XX=8805;gnomADv4_1_nhomalt_joint_XY=7639;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29732739 chr22_29732739_CA_C CA C 39 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=39;CADDIndel_PHREDscore=0.836;CADDIndel_Rawscore=-0.063852;CSQ=-|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs131258|907|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||A|A||||chr22:g.29732762del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.384-1386del|||||||rs131258||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29732762del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.384-1386del|||||||rs131258||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29732762del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.384-1386del|||||||rs131258||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29732762del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.384-1386del|||||||rs131258||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29732762del|||||||||||||,-|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs131258|907|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||A|A||||chr22:g.29732762del|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|-6|-3|28|48;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=42461;gnomADv4_1_AC_joint_XX=22991;gnomADv4_1_AC_joint_XY=19470;gnomADv4_1_AF_grpmax_joint=0.76157;gnomADv4_1_AF_joint=0.602369;gnomADv4_1_AF_joint_XX=0.604899;gnomADv4_1_AF_joint_XY=0.599409;gnomADv4_1_AN_grpmax_joint=2420;gnomADv4_1_AN_joint=70490;gnomADv4_1_AN_joint_XX=38008;gnomADv4_1_AN_joint_XY=32482;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10031;gnomADv4_1_nhomalt_joint_XX=5444;gnomADv4_1_nhomalt_joint_XY=4587;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29733167 chr22_29733167_T_C T C 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=8.15;CADD_Rawscore=0.785254;CSQ=C|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs140104|1334|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||T|T||||chr22:g.29733167T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.384-1813A>G|||||||rs140104||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29733167T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.384-1813A>G|||||||rs140104||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29733167T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.384-1813A>G|||||||rs140104||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29733167T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.384-1813A>G|||||||rs140104||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29733167T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs140104|1334|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||T|T||||chr22:g.29733167T>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|46|30|40|-28;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=85124;gnomADv4_1_AC_joint_XX=44128;gnomADv4_1_AC_joint_XY=40996;gnomADv4_1_AF_grpmax_joint=0.617795;gnomADv4_1_AF_joint=0.559665;gnomADv4_1_AF_joint_XX=0.56768;gnomADv4_1_AF_joint_XY=0.551288;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24061;gnomADv4_1_nhomalt_joint_XX=12642;gnomADv4_1_nhomalt_joint_XY=11419;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29734126 chr22_29734126_A_T A T 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=11.29;CADD_Rawscore=1.09033;CSQ=T|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs140105|2293|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||A|A||||chr22:g.29734126A>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.384-2772T>A|||||||rs140105||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29734126A>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.384-2772T>A|||||||rs140105||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29734126A>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.384-2772T>A|||||||rs140105||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29734126A>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.384-2772T>A|||||||rs140105||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29734126A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs140105|2293|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||A|A||||chr22:g.29734126A>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|0|2|-8|2;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=119183;gnomADv4_1_AC_joint_XX=61251;gnomADv4_1_AC_joint_XY=57932;gnomADv4_1_AF_grpmax_joint=0.921507;gnomADv4_1_AF_joint=0.783099;gnomADv4_1_AF_joint_XX=0.787389;gnomADv4_1_AF_joint_XY=0.778614;gnomADv4_1_AN_grpmax_joint=41558;gnomADv4_1_AN_joint=152194;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=47308;gnomADv4_1_nhomalt_joint_XX=24475;gnomADv4_1_nhomalt_joint_XY=22833;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29734324 chr22_29734324_A_G A G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=2.813;CADD_Rawscore=0.256246;CSQ=G|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs140106|2491|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||A|A||||chr22:g.29734324A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.384-2970T>C|||||||rs140106||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29734324A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.384-2970T>C|||||||rs140106||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29734324A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.384-2970T>C|||||||rs140106||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29734324A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.384-2970T>C|||||||rs140106||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29734324A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs140106|2491|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||A|A||||chr22:g.29734324A>G|||||||||||||;SpliceAI=G|ZMAT5|0.00|0.00|0.00|0.00|-41|-3|-4|-3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=85179;gnomADv4_1_AC_joint_XX=44167;gnomADv4_1_AC_joint_XY=41012;gnomADv4_1_AF_grpmax_joint=0.618411;gnomADv4_1_AF_joint=0.560138;gnomADv4_1_AF_joint_XX=0.568094;gnomADv4_1_AF_joint_XY=0.551815;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24101;gnomADv4_1_nhomalt_joint_XX=12665;gnomADv4_1_nhomalt_joint_XY=11436;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29734527 chr22_29734527_C_A C A 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=3.357;CADD_Rawscore=0.307749;CSQ=A|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs140107|2694|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||C|C||||chr22:g.29734527C>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.384-3173G>T|||||||rs140107||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29734527C>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.384-3173G>T|||||||rs140107||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29734527C>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.384-3173G>T|||||||rs140107||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29734527C>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.384-3173G>T|||||||rs140107||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29734527C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs140107|2694|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||C|C||||chr22:g.29734527C>A|||||||||||||;SpliceAI=A|ZMAT5|0.00|0.00|0.00|0.00|-31|-1|18|-32;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=57274;gnomADv4_1_AC_joint_XX=29819;gnomADv4_1_AC_joint_XY=27455;gnomADv4_1_AF_grpmax_joint=0.594858;gnomADv4_1_AF_joint=0.376595;gnomADv4_1_AF_joint_XX=0.383583;gnomADv4_1_AF_joint_XY=0.369287;gnomADv4_1_AN_grpmax_joint=5134;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12323;gnomADv4_1_nhomalt_joint_XX=6555;gnomADv4_1_nhomalt_joint_XY=5768;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29734787 chr22_29734787_T_C T C 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.101;CADD_Rawscore=-0.609323;CSQ=C|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs140108|2954|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||T|T||||chr22:g.29734787T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.384-3433A>G|||||||rs140108||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29734787T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.384-3433A>G|||||||rs140108||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29734787T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.384-3433A>G|||||||rs140108||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29734787T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.384-3433A>G|||||||rs140108||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29734787T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs140108|2954|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||T|T||||chr22:g.29734787T>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|13|-10|6|11;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=116861;gnomADv4_1_AC_joint_XX=60045;gnomADv4_1_AC_joint_XY=56816;gnomADv4_1_AF_grpmax_joint=0.897207;gnomADv4_1_AF_joint=0.768186;gnomADv4_1_AF_joint_XX=0.772084;gnomADv4_1_AF_joint_XY=0.764108;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=45274;gnomADv4_1_nhomalt_joint_XX=23417;gnomADv4_1_nhomalt_joint_XY=21857;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29734827 chr22_29734827_CGCCCCA_C CGCCCCA C 38 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=1.276;CADDIndel_Rawscore=0.045605;CSQ=-|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs140109|2995|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||GCCCCA|GCCCCA||||chr22:g.29734844_29734849del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.384-3479_384-3474del|||||||rs140109||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||GCCCCA|GCCCCA||||chr22:g.29734844_29734849del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.384-3479_384-3474del|||||||rs140109||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||GCCCCA|GCCCCA||||chr22:g.29734844_29734849del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.384-3479_384-3474del|||||||rs140109||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||GCCCCA|GCCCCA||||chr22:g.29734844_29734849del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.384-3479_384-3474del|||||||rs140109||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||GCCCCA|GCCCCA||||chr22:g.29734844_29734849del|||||||||||||,-|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs140109|2995|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||GCCCCA|GCCCCA||||chr22:g.29734844_29734849del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=84445;gnomADv4_1_AC_joint_XX=43828;gnomADv4_1_AC_joint_XY=40617;gnomADv4_1_AF_grpmax_joint=0.613249;gnomADv4_1_AF_joint=0.558477;gnomADv4_1_AF_joint_XX=0.566854;gnomADv4_1_AF_joint_XY=0.54971;gnomADv4_1_AN_grpmax_joint=5042;gnomADv4_1_AN_joint=151206;gnomADv4_1_AN_joint_XX=77318;gnomADv4_1_AN_joint_XY=73888;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23787;gnomADv4_1_nhomalt_joint_XX=12524;gnomADv4_1_nhomalt_joint_XY=11263;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29735159 chr22_29735159_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.455;CADD_Rawscore=-0.216692;CSQ=A|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs140110|3326|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||G|G||||chr22:g.29735159G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.383+3171C>T|||||||rs140110||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29735159G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.383+3171C>T|||||||rs140110||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29735159G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.383+3171C>T|||||||rs140110||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29735159G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.383+3171C>T|||||||rs140110||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29735159G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs140110|3326|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||G|G||||chr22:g.29735159G>A|||||||||||||;SpliceAI=A|ZMAT5|0.00|0.00|0.00|0.00|10|33|2|33;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=57063;gnomADv4_1_AC_joint_XX=29704;gnomADv4_1_AC_joint_XY=27359;gnomADv4_1_AF_grpmax_joint=0.594767;gnomADv4_1_AF_joint=0.375296;gnomADv4_1_AF_joint_XX=0.382153;gnomADv4_1_AF_joint_XY=0.368124;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12312;gnomADv4_1_nhomalt_joint_XX=6546;gnomADv4_1_nhomalt_joint_XY=5766;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29735581 chr22_29735581_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.949;CADD_Rawscore=0.157023;CSQ=G|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs140111|3748|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||A|A||||chr22:g.29735581A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.383+2749T>C|||||||rs140111||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29735581A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.383+2749T>C|||||||rs140111||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29735581A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.383+2749T>C|||||||rs140111||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29735581A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.383+2749T>C|||||||rs140111||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29735581A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs140111|3748|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||A|A||||chr22:g.29735581A>G|||||||||||||;SpliceAI=G|ZMAT5|0.00|0.00|0.00|0.00|38|-3|-26|17;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=70565;gnomADv4_1_AC_joint_XX=36911;gnomADv4_1_AC_joint_XY=33654;gnomADv4_1_AF_grpmax_joint=0.600852;gnomADv4_1_AF_joint=0.463713;gnomADv4_1_AF_joint_XX=0.474447;gnomADv4_1_AF_joint_XY=0.452485;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152174;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16701;gnomADv4_1_nhomalt_joint_XX=8917;gnomADv4_1_nhomalt_joint_XY=7784;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29735908 chr22_29735908_G_A G A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=3.684;CADD_Rawscore=0.337203;CSQ=A|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs3788417|4075|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||G|G||||chr22:g.29735908G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.383+2422C>T|||||||rs3788417||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29735908G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.383+2422C>T|||||||rs3788417||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29735908G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.383+2422C>T|||||||rs3788417||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29735908G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.383+2422C>T|||||||rs3788417||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29735908G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs3788417|4075|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||G|G||||chr22:g.29735908G>A|||||||||||||;SpliceAI=A|ZMAT5|0.00|0.00|0.00|0.00|-25|35|5|35;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=23844;gnomADv4_1_AC_joint_XX=12568;gnomADv4_1_AC_joint_XY=11276;gnomADv4_1_AF_grpmax_joint=0.218883;gnomADv4_1_AF_joint=0.156691;gnomADv4_1_AF_joint_XX=0.161538;gnomADv4_1_AF_joint_XY=0.15162;gnomADv4_1_AN_grpmax_joint=67986;gnomADv4_1_AN_joint=152172;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2350;gnomADv4_1_nhomalt_joint_XX=1279;gnomADv4_1_nhomalt_joint_XY=1071;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29736719 chr22_29736719_C_CA C CA 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADDIndel_PHREDscore=1.188;CADDIndel_Rawscore=0.027067;CSQ=A|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs35069848|4886|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl|||||||chr22:g.29736742dup|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.383+1610dup|||||||rs35069848||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl|||||||chr22:g.29736742dup|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.383+1610dup|||||||rs35069848||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq|||||||chr22:g.29736742dup|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.383+1610dup|||||||rs35069848||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq|||||||chr22:g.29736742dup|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.383+1610dup|||||||rs35069848||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq|||||||chr22:g.29736742dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs35069848|4886|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq|||||||chr22:g.29736742dup|||||||||||||;SpliceAI=CA|ZMAT5|0.00|0.00|0.00|0.00|25|-27|44|46;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=3868;gnomADv4_1_AC_joint_XX=2199;gnomADv4_1_AC_joint_XY=1669;gnomADv4_1_AF_grpmax_joint=0.228643;gnomADv4_1_AF_joint=0.161598;gnomADv4_1_AF_joint_XX=0.167914;gnomADv4_1_AF_joint_XY=0.153967;gnomADv4_1_AN_grpmax_joint=796;gnomADv4_1_AN_joint=23936;gnomADv4_1_AN_joint_XX=13096;gnomADv4_1_AN_joint_XY=10840;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=321;gnomADv4_1_nhomalt_joint_XX=172;gnomADv4_1_nhomalt_joint_XY=149;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29736790 chr22_29736790_T_C T C 47 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.466;CADD_Rawscore=-0.210942;CSQ=C|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs140112|4957|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||T|T||||chr22:g.29736790T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.383+1540A>G|||||||rs140112||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29736790T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.383+1540A>G|||||||rs140112||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29736790T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.383+1540A>G|||||||rs140112||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29736790T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.383+1540A>G|||||||rs140112||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29736790T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs140112|4957|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||T|T||||chr22:g.29736790T>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|39|-2|-25|36;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=80624;gnomADv4_1_AC_joint_XX=42397;gnomADv4_1_AC_joint_XY=38227;gnomADv4_1_AF_grpmax_joint=0.612782;gnomADv4_1_AF_joint=0.558106;gnomADv4_1_AF_joint_XX=0.566411;gnomADv4_1_AF_joint_XY=0.549175;gnomADv4_1_AN_grpmax_joint=4788;gnomADv4_1_AN_joint=144460;gnomADv4_1_AN_joint_XX=74852;gnomADv4_1_AN_joint_XY=69608;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=22680;gnomADv4_1_nhomalt_joint_XX=12082;gnomADv4_1_nhomalt_joint_XY=10598;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29736799 chr22_29736799_T_C T C 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.015;CADD_Rawscore=-1.14304;CSQ=C|downstream_gene_variant|MODIFIER|CABP7|ENSG00000100314|Transcript|ENST00000216144|protein_coding||||||||||rs131259|4966|1||HGNC|HGNC:20834|1|CCDS13867.1|ENSP00000216144|Q86V35.146||UPI0000004C1D|||Ensembl||T|T||||chr22:g.29736799T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.383+1531A>G|||||||rs131259||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29736799T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.383+1531A>G|||||||rs131259||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29736799T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.383+1531A>G|||||||rs131259||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29736799T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.383+1531A>G|||||||rs131259||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29736799T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CABP7|164633|Transcript|NM_182527.3|protein_coding||||||||||rs131259|4966|1||EntrezGene|HGNC:20834|||NP_872333.1||||||RefSeq||T|T||||chr22:g.29736799T>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|30|-2|-34|27;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000216144,ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3,NM_182527.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100314,ENSG00000100319,55954,55954,55954,164633;VEP_SYMBOL=CABP7,ZMAT5,ZMAT5,ZMAT5,ZMAT5,CABP7;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=67428;gnomADv4_1_AC_joint_XX=35692;gnomADv4_1_AC_joint_XY=31736;gnomADv4_1_AF_grpmax_joint=0.625489;gnomADv4_1_AF_joint=0.523322;gnomADv4_1_AF_joint_XX=0.531526;gnomADv4_1_AF_joint_XY=0.514393;gnomADv4_1_AN_grpmax_joint=4598;gnomADv4_1_AN_joint=128846;gnomADv4_1_AN_joint_XX=67150;gnomADv4_1_AN_joint_XY=61696;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15893;gnomADv4_1_nhomalt_joint_XX=8598;gnomADv4_1_nhomalt_joint_XY=7295;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29736975 chr22_29736975_A_C A C 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.445;CADD_Rawscore=0.078387;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.383+1355T>G|||||||rs131260||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29736975A>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.383+1355T>G|||||||rs131260||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29736975A>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.383+1355T>G|||||||rs131260||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29736975A>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.383+1355T>G|||||||rs131260||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29736975A>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|11|23|-25|18;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=69516;gnomADv4_1_AC_joint_XX=36624;gnomADv4_1_AC_joint_XY=32892;gnomADv4_1_AF_grpmax_joint=0.596931;gnomADv4_1_AF_joint=0.468538;gnomADv4_1_AF_joint_XX=0.480277;gnomADv4_1_AF_joint_XY=0.456124;gnomADv4_1_AN_grpmax_joint=4952;gnomADv4_1_AN_joint=148368;gnomADv4_1_AN_joint_XX=76256;gnomADv4_1_AN_joint_XY=72112;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16642;gnomADv4_1_nhomalt_joint_XX=8969;gnomADv4_1_nhomalt_joint_XY=7673;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29737017 chr22_29737017_A_C A C 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.906;CADD_Rawscore=-0.043308;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.383+1313T>G|||||||rs131261||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29737017A>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.383+1313T>G|||||||rs131261||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29737017A>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.383+1313T>G|||||||rs131261||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29737017A>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.383+1313T>G|||||||rs131261||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29737017A>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|5|-19|5|46;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=66463;gnomADv4_1_AC_joint_XX=35220;gnomADv4_1_AC_joint_XY=31243;gnomADv4_1_AF_grpmax_joint=0.59704;gnomADv4_1_AF_joint=0.473748;gnomADv4_1_AF_joint_XX=0.486343;gnomADv4_1_AF_joint_XY=0.460309;gnomADv4_1_AN_grpmax_joint=4730;gnomADv4_1_AN_joint=140292;gnomADv4_1_AN_joint_XX=72418;gnomADv4_1_AN_joint_XY=67874;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15755;gnomADv4_1_nhomalt_joint_XX=8535;gnomADv4_1_nhomalt_joint_XY=7220;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29737055 chr22_29737055_G_T G T 47 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.903;CADD_Rawscore=0.150832;CSQ=T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.383+1275C>A|||||||rs131262||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29737055G>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.383+1275C>A|||||||rs131262||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29737055G>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.383+1275C>A|||||||rs131262||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29737055G>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.383+1275C>A|||||||rs131262||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29737055G>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|-33|-5|8|30;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=46780;gnomADv4_1_AC_joint_XX=24733;gnomADv4_1_AC_joint_XY=22047;gnomADv4_1_AF_grpmax_joint=0.589219;gnomADv4_1_AF_joint=0.319409;gnomADv4_1_AF_joint_XX=0.328015;gnomADv4_1_AF_joint_XY=0.310276;gnomADv4_1_AN_grpmax_joint=4842;gnomADv4_1_AN_joint=146458;gnomADv4_1_AN_joint_XX=75402;gnomADv4_1_AN_joint_XY=71056;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8417;gnomADv4_1_nhomalt_joint_XX=4593;gnomADv4_1_nhomalt_joint_XY=3824;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29737056 chr22_29737056_C_T C T 47 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=2.973;CADD_Rawscore=0.271897;CSQ=T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.383+1274G>A|||||||rs131263||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29737056C>T|||1||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.383+1274G>A|||||||rs131263||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29737056C>T|||1||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.383+1274G>A|||||||rs131263||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29737056C>T|||1||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.383+1274G>A|||||||rs131263||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29737056C>T|||1||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|-34|-21|7|-7;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=46821;gnomADv4_1_AC_joint_XX=24752;gnomADv4_1_AC_joint_XY=22069;gnomADv4_1_AF_grpmax_joint=0.588454;gnomADv4_1_AF_joint=0.321683;gnomADv4_1_AF_joint_XX=0.330212;gnomADv4_1_AF_joint_XY=0.312627;gnomADv4_1_AN_grpmax_joint=4850;gnomADv4_1_AN_joint=145550;gnomADv4_1_AN_joint_XX=74958;gnomADv4_1_AN_joint_XY=70592;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8425;gnomADv4_1_nhomalt_joint_XX=4596;gnomADv4_1_nhomalt_joint_XY=3829;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29737441 chr22_29737441_T_A T A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.476;CADD_Rawscore=-0.20548;CSQ=A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.383+889A>T|||||||rs140113||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29737441T>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.383+889A>T|||||||rs140113||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29737441T>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.383+889A>T|||||||rs140113||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29737441T>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.383+889A>T|||||||rs140113||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29737441T>A|||||||||||||;SpliceAI=A|ZMAT5|0.00|0.00|0.00|0.00|-27|-29|-26|-29;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=85275;gnomADv4_1_AC_joint_XX=44213;gnomADv4_1_AC_joint_XY=41062;gnomADv4_1_AF_grpmax_joint=0.621663;gnomADv4_1_AF_joint=0.560445;gnomADv4_1_AF_joint_XX=0.568524;gnomADv4_1_AF_joint_XY=0.551998;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24132;gnomADv4_1_nhomalt_joint_XX=12674;gnomADv4_1_nhomalt_joint_XY=11458;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29737590 chr22_29737590_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.573;CADD_Rawscore=-0.158881;CSQ=T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.383+740G>A|||||||rs17462966||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29737590C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.383+740G>A|||||||rs17462966||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29737590C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.383+740G>A|||||||rs17462966||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29737590C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.383+740G>A|||||||rs17462966||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29737590C>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|-18|48|-9|50;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=23808;gnomADv4_1_AC_joint_XX=12541;gnomADv4_1_AC_joint_XY=11267;gnomADv4_1_AF_grpmax_joint=0.218425;gnomADv4_1_AF_joint=0.15643;gnomADv4_1_AF_joint_XX=0.1612;gnomADv4_1_AF_joint_XY=0.151442;gnomADv4_1_AN_grpmax_joint=67996;gnomADv4_1_AN_joint=152196;gnomADv4_1_AN_joint_XX=77798;gnomADv4_1_AN_joint_XY=74398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2337;gnomADv4_1_nhomalt_joint_XX=1268;gnomADv4_1_nhomalt_joint_XY=1069;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29737892 chr22_29737892_C_T C T 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.831;CADD_Rawscore=-0.06536;CSQ=T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.383+438G>A|||||||rs140114||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29737892C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.383+438G>A|||||||rs140114||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29737892C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.383+438G>A|||||||rs140114||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29737892C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.383+438G>A|||||||rs140114||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29737892C>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|-28|10|-2|-34;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=80228;gnomADv4_1_AC_joint_XX=41765;gnomADv4_1_AC_joint_XY=38463;gnomADv4_1_AF_grpmax_joint=0.672538;gnomADv4_1_AF_joint=0.56838;gnomADv4_1_AF_joint_XX=0.576323;gnomADv4_1_AF_joint_XY=0.559999;gnomADv4_1_AN_grpmax_joint=4712;gnomADv4_1_AN_joint=141152;gnomADv4_1_AN_joint_XX=72468;gnomADv4_1_AN_joint_XY=68684;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21560;gnomADv4_1_nhomalt_joint_XX=11405;gnomADv4_1_nhomalt_joint_XY=10155;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29737901 chr22_29737901_G_GC G GC 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=0.424;CADDIndel_Rawscore=-0.234674;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.383+428dup|||||||rs140115||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl|||||||chr22:g.29737903dup|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.383+428dup|||||||rs140115||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq|||||||chr22:g.29737903dup|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.383+428dup|||||||rs140115||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq|||||||chr22:g.29737903dup|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.383+428dup|||||||rs140115||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq|||||||chr22:g.29737903dup|||||||||||||;SpliceAI=GC|ZMAT5|0.00|0.00|0.00|0.00|-41|-37|22|-11;TYPE=INDEL;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=117900;gnomADv4_1_AC_joint_XX=60629;gnomADv4_1_AC_joint_XY=57271;gnomADv4_1_AF_grpmax_joint=0.908506;gnomADv4_1_AF_joint=0.776618;gnomADv4_1_AF_joint_XX=0.780819;gnomADv4_1_AF_joint_XY=0.772221;gnomADv4_1_AN_grpmax_joint=5126;gnomADv4_1_AN_joint=151812;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74164;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46288;gnomADv4_1_nhomalt_joint_XX=23964;gnomADv4_1_nhomalt_joint_XY=22324;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29737998 chr22_29737998_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.137;CADD_Rawscore=-0.527417;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||5/5|ENST00000344318.4:c.383+332A>G|||||||rs140116||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29737998T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||5/5|NM_001003692.2:c.383+332A>G|||||||rs140116||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29737998T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||5/5|NM_001318129.2:c.383+332A>G|||||||rs140116||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29737998T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||6/6|NM_019103.3:c.383+332A>G|||||||rs140116||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29737998T>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|40|-14|-40|-14;TYPE=SNP;VEP_Allele=C,C,C,C;VEP_Feature=ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=151732;gnomADv4_1_AC_joint_XX=77516;gnomADv4_1_AC_joint_XY=74216;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.996899;gnomADv4_1_AF_joint_XX=0.996452;gnomADv4_1_AF_joint_XY=0.997366;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152204;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75631;gnomADv4_1_nhomalt_joint_XX=38620;gnomADv4_1_nhomalt_joint_XY=37011;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29738534 chr22_29738534_T_TG T TG 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=8.31;CADDIndel_Rawscore=0.802617;CSQ=G|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||4/5|ENST00000344318.4:c.272-94dup|||||||rs146621560||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl|||||||chr22:g.29738535dup|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||4/5|NM_001003692.2:c.272-94dup|||||||rs146621560||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq|||||||chr22:g.29738535dup|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||4/5|NM_001318129.2:c.272-94dup|||||||rs146621560||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq|||||||chr22:g.29738535dup|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||5/6|NM_019103.3:c.272-94dup|||||||rs146621560||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq|||||||chr22:g.29738535dup|||||||||||||;SpliceAI=TG|ZMAT5|0.00|0.00|0.00|0.00|-48|44|-32|44;TYPE=INDEL;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=168774;gnomADv4_1_AC_joint_XX=81990;gnomADv4_1_AC_joint_XY=86784;gnomADv4_1_AF_grpmax_joint=0.232345;gnomADv4_1_AF_joint=0.149211;gnomADv4_1_AF_joint_XX=0.146294;gnomADv4_1_AF_joint_XY=0.152076;gnomADv4_1_AN_grpmax_joint=73860;gnomADv4_1_AN_joint=1131110;gnomADv4_1_AN_joint_XX=560448;gnomADv4_1_AN_joint_XY=570662;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=13682;gnomADv4_1_nhomalt_joint_XX=6454;gnomADv4_1_nhomalt_joint_XY=7228;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29738774 chr22_29738774_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.174;CADD_Rawscore=0.0238;CSQ=T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||4/5|ENST00000344318.4:c.272-333G>A|||||||rs131264||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29738774C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||4/5|NM_001003692.2:c.272-333G>A|||||||rs131264||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29738774C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||4/5|NM_001318129.2:c.272-333G>A|||||||rs131264||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29738774C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||5/6|NM_019103.3:c.272-333G>A|||||||rs131264||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29738774C>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|-17|11|11|-32;TYPE=SNP;VEP_Allele=T,T,T,T;VEP_Feature=ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=70444;gnomADv4_1_AC_joint_XX=36841;gnomADv4_1_AC_joint_XY=33603;gnomADv4_1_AF_grpmax_joint=0.603649;gnomADv4_1_AF_joint=0.463875;gnomADv4_1_AF_joint_XX=0.474303;gnomADv4_1_AF_joint_XY=0.452956;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151860;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74186;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16652;gnomADv4_1_nhomalt_joint_XX=8885;gnomADv4_1_nhomalt_joint_XY=7767;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29738804 chr22_29738804_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.208;CADD_Rawscore=0.031309;CSQ=G|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||4/5|ENST00000344318.4:c.272-363T>C|||||||rs140117||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29738804A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||4/5|NM_001003692.2:c.272-363T>C|||||||rs140117||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29738804A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||4/5|NM_001318129.2:c.272-363T>C|||||||rs140117||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29738804A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||5/6|NM_019103.3:c.272-363T>C|||||||rs140117||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29738804A>G|||||||||||||;SpliceAI=G|ZMAT5|0.00|0.00|0.00|0.00|-19|35|3|-18;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=80631;gnomADv4_1_AC_joint_XX=41966;gnomADv4_1_AC_joint_XY=38665;gnomADv4_1_AF_grpmax_joint=0.621012;gnomADv4_1_AF_joint=0.531334;gnomADv4_1_AF_joint_XX=0.540799;gnomADv4_1_AF_joint_XY=0.521429;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151752;gnomADv4_1_AN_joint_XX=77600;gnomADv4_1_AN_joint_XY=74152;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21778;gnomADv4_1_nhomalt_joint_XX=11506;gnomADv4_1_nhomalt_joint_XY=10272;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29738926 chr22_29738926_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.921;CADD_Rawscore=-0.03916;CSQ=A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||4/5|ENST00000344318.4:c.272-485C>T|||||||rs12483807||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29738926G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||4/5|NM_001003692.2:c.272-485C>T|||||||rs12483807||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29738926G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||4/5|NM_001318129.2:c.272-485C>T|||||||rs12483807||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29738926G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||5/6|NM_019103.3:c.272-485C>T|||||||rs12483807||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29738926G>A|||||||||||||;SpliceAI=A|ZMAT5|0.00|0.00|0.00|0.00|-41|7|2|8;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=19556;gnomADv4_1_AC_joint_XX=9791;gnomADv4_1_AC_joint_XY=9765;gnomADv4_1_AF_grpmax_joint=0.238273;gnomADv4_1_AF_joint=0.128749;gnomADv4_1_AF_joint_XX=0.126072;gnomADv4_1_AF_joint_XY=0.131551;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=151892;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1443;gnomADv4_1_nhomalt_joint_XX=717;gnomADv4_1_nhomalt_joint_XY=726;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29739817 chr22_29739817_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=8.229;CADD_Rawscore=0.79385;CSQ=A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||4/5|ENST00000344318.4:c.271+833C>T|||||||rs140118||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29739817G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||4/5|NM_001003692.2:c.271+833C>T|||||||rs140118||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29739817G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||4/5|NM_001318129.2:c.271+833C>T|||||||rs140118||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29739817G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||5/6|NM_019103.3:c.271+833C>T|||||||rs140118||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29739817G>A|||||||||||||;SpliceAI=A|ZMAT5|0.00|0.00|0.00|0.00|-14|-39|-44|-39;TYPE=SNP;VEP_Allele=A,A,A,A;VEP_Feature=ENST00000344318,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=46969;gnomADv4_1_AC_joint_XX=24484;gnomADv4_1_AC_joint_XY=22485;gnomADv4_1_AF_grpmax_joint=0.597679;gnomADv4_1_AF_joint=0.308532;gnomADv4_1_AF_joint_XX=0.31468;gnomADv4_1_AF_joint_XY=0.302104;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152234;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8532;gnomADv4_1_nhomalt_joint_XX=4561;gnomADv4_1_nhomalt_joint_XY=3971;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29741273 chr22_29741273_G_A G A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.937;CADD_Rawscore=-0.034673;CSQ=A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||3/5|ENST00000344318.4:c.191-543C>T|||||||rs105311||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29741273G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||||||||||rs105311|4894|-1||HGNC|HGNC:28046|2||||||||Ensembl||G|G||||chr22:g.29741273G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||3/5|NM_001003692.2:c.191-543C>T|||||||rs105311||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29741273G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||3/5|NM_001318129.2:c.191-543C>T|||||||rs105311||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29741273G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||4/6|NM_019103.3:c.191-543C>T|||||||rs105311||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29741273G>A|||||||||||||;SpliceAI=A|ZMAT5|0.01|0.00|0.00|0.00|-31|39|44|39;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=70437;gnomADv4_1_AC_joint_XX=36822;gnomADv4_1_AC_joint_XY=33615;gnomADv4_1_AF_grpmax_joint=0.597131;gnomADv4_1_AF_joint=0.463444;gnomADv4_1_AF_joint_XX=0.473948;gnomADv4_1_AF_joint_XY=0.452459;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16637;gnomADv4_1_nhomalt_joint_XX=8875;gnomADv4_1_nhomalt_joint_XY=7762;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29742160 chr22_29742160_A_T A T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.756;CADD_Rawscore=-0.089628;CSQ=T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||3/5|ENST00000344318.4:c.190+258T>A|||||||rs140119||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29742160A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||||||||||rs140119|4007|-1||HGNC|HGNC:28046|2||||||||Ensembl||A|A||||chr22:g.29742160A>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||3/5|NM_001003692.2:c.190+258T>A|||||||rs140119||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29742160A>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||3/5|NM_001318129.2:c.190+258T>A|||||||rs140119||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29742160A>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||4/6|NM_019103.3:c.190+258T>A|||||||rs140119||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29742160A>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.01|0.00|0|-33|0|48;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=80708;gnomADv4_1_AC_joint_XX=42006;gnomADv4_1_AC_joint_XY=38702;gnomADv4_1_AF_grpmax_joint=0.620148;gnomADv4_1_AF_joint=0.531155;gnomADv4_1_AF_joint_XX=0.54059;gnomADv4_1_AF_joint_XY=0.521281;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151948;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74244;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21795;gnomADv4_1_nhomalt_joint_XX=11517;gnomADv4_1_nhomalt_joint_XY=10278;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29742559 chr22_29742559_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.954;CADD_Rawscore=-0.030009;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||2/5|ENST00000344318.4:c.128-79A>G|||||||rs140120||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29742559T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||||||||||rs140120|3608|-1||HGNC|HGNC:28046|2||||||||Ensembl||T|T||||chr22:g.29742559T>C|||1||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||2/5|NM_001003692.2:c.128-79A>G|||||||rs140120||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29742559T>C|||1||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||2/5|NM_001318129.2:c.128-79A>G|||||||rs140120||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29742559T>C|||1||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||3/6|NM_019103.3:c.128-79A>G|||||||rs140120||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29742559T>C|||1||||||||||;SpliceAI=C|ZMAT5|0.01|0.00|0.00|0.00|23|-40|20|7;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=636996;gnomADv4_1_AC_joint_XX=321709;gnomADv4_1_AC_joint_XY=315287;gnomADv4_1_AF_grpmax_joint=0.653492;gnomADv4_1_AF_joint=0.475108;gnomADv4_1_AF_joint_XX=0.485505;gnomADv4_1_AF_joint_XY=0.464948;gnomADv4_1_AN_grpmax_joint=43266;gnomADv4_1_AN_joint=1340740;gnomADv4_1_AN_joint_XX=662628;gnomADv4_1_AN_joint_XY=678112;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=156786;gnomADv4_1_nhomalt_joint_XX=80001;gnomADv4_1_nhomalt_joint_XY=76785;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29742700 chr22_29742700_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.858;CADD_Rawscore=0.260665;CSQ=T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||2/5|ENST00000344318.4:c.128-220G>A|||||||rs140121||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29742700C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||||||||||rs140121|3467|-1||HGNC|HGNC:28046|2||||||||Ensembl||C|C||||chr22:g.29742700C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||2/5|NM_001003692.2:c.128-220G>A|||||||rs140121||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29742700C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||2/5|NM_001318129.2:c.128-220G>A|||||||rs140121||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29742700C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||3/6|NM_019103.3:c.128-220G>A|||||||rs140121||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29742700C>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|-20|-50|-4|-19;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=63586;gnomADv4_1_AC_joint_XX=33165;gnomADv4_1_AC_joint_XY=30421;gnomADv4_1_AF_grpmax_joint=0.59872;gnomADv4_1_AF_joint=0.418219;gnomADv4_1_AF_joint_XX=0.42679;gnomADv4_1_AF_joint_XY=0.409258;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13902;gnomADv4_1_nhomalt_joint_XX=7398;gnomADv4_1_nhomalt_joint_XY=6504;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29742919 chr22_29742919_C_G C G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.713;CADD_Rawscore=-0.104438;CSQ=G|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||2/5|ENST00000344318.4:c.128-439G>C|||||||rs140122||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29742919C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||||||||||rs140122|3248|-1||HGNC|HGNC:28046|2||||||||Ensembl||C|C||||chr22:g.29742919C>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||2/5|NM_001003692.2:c.128-439G>C|||||||rs140122||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29742919C>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||2/5|NM_001318129.2:c.128-439G>C|||||||rs140122||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29742919C>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||3/6|NM_019103.3:c.128-439G>C|||||||rs140122||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29742919C>G|||||||||||||;SpliceAI=G|ZMAT5|0.00|0.00|0.00|0.00|15|-1|-42|43;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=80530;gnomADv4_1_AC_joint_XX=41924;gnomADv4_1_AC_joint_XY=38606;gnomADv4_1_AF_grpmax_joint=0.619612;gnomADv4_1_AF_joint=0.530466;gnomADv4_1_AF_joint_XX=0.540007;gnomADv4_1_AF_joint_XY=0.520479;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151810;gnomADv4_1_AN_joint_XX=77636;gnomADv4_1_AN_joint_XY=74174;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21718;gnomADv4_1_nhomalt_joint_XX=11485;gnomADv4_1_nhomalt_joint_XY=10233;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29744369 chr22_29744369_T_C T C 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.097;CADD_Rawscore=-0.620685;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||2/5|ENST00000344318.4:c.128-1889A>G|||||||rs11090577||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29744369T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||||||||||rs11090577|1798|-1||HGNC|HGNC:28046|2||||||||Ensembl||T|T||||chr22:g.29744369T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||2/5|NM_001003692.2:c.128-1889A>G|||||||rs11090577||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29744369T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||2/5|NM_001318129.2:c.128-1889A>G|||||||rs11090577||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29744369T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||3/6|NM_019103.3:c.128-1889A>G|||||||rs11090577||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29744369T>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|29|37|-36|2;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=19591;gnomADv4_1_AC_joint_XX=9937;gnomADv4_1_AC_joint_XY=9654;gnomADv4_1_AF_grpmax_joint=0.558333;gnomADv4_1_AF_joint=0.525453;gnomADv4_1_AF_joint_XX=0.526715;gnomADv4_1_AF_joint_XY=0.524161;gnomADv4_1_AN_grpmax_joint=1920;gnomADv4_1_AN_joint=37284;gnomADv4_1_AN_joint_XX=18866;gnomADv4_1_AN_joint_XY=18418;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1440;gnomADv4_1_nhomalt_joint_XX=730;gnomADv4_1_nhomalt_joint_XY=710;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29747217 chr22_29747217_G_A G A 60 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=3.238;CADD_Rawscore=0.296811;CSQ=A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||2/5|ENST00000344318.4:c.127+1201C>T|||||||rs140123||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29747217G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron|2/2||ENST00000489010.1:n.1418C>T||1418|||||rs140123||-1||HGNC|HGNC:28046|2||||||||Ensembl||G|G||||chr22:g.29747217G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||2/5|NM_001003692.2:c.127+1201C>T|||||||rs140123||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29747217G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||2/5|NM_001318129.2:c.127+1201C>T|||||||rs140123||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29747217G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||3/6|NM_019103.3:c.127+1201C>T|||||||rs140123||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29747217G>A|||||||||||||;SpliceAI=A|ZMAT5|0.00|0.00|0.00|0.00|-30|2|16|4;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=70897;gnomADv4_1_AC_joint_XX=37058;gnomADv4_1_AC_joint_XY=33839;gnomADv4_1_AF_grpmax_joint=0.602361;gnomADv4_1_AF_joint=0.466305;gnomADv4_1_AF_joint_XX=0.476863;gnomADv4_1_AF_joint_XY=0.455266;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152040;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16878;gnomADv4_1_nhomalt_joint_XX=8995;gnomADv4_1_nhomalt_joint_XY=7883;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29747251 chr22_29747251_C_T C T 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=5.653;CADD_Rawscore=0.518527;CSQ=T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||2/5|ENST00000344318.4:c.127+1167G>A|||||||rs73161005||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29747251C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron|2/2||ENST00000489010.1:n.1384G>A||1384|||||rs73161005||-1||HGNC|HGNC:28046|2||||||||Ensembl||C|C||||chr22:g.29747251C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||2/5|NM_001003692.2:c.127+1167G>A|||||||rs73161005||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29747251C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||2/5|NM_001318129.2:c.127+1167G>A|||||||rs73161005||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29747251C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||3/6|NM_019103.3:c.127+1167G>A|||||||rs73161005||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29747251C>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|-32|15|-32|-18;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=23873;gnomADv4_1_AC_joint_XX=12570;gnomADv4_1_AC_joint_XY=11303;gnomADv4_1_AF_grpmax_joint=0.218483;gnomADv4_1_AF_joint=0.156826;gnomADv4_1_AF_joint_XX=0.161568;gnomADv4_1_AF_joint_XY=0.151869;gnomADv4_1_AN_grpmax_joint=67996;gnomADv4_1_AN_joint=152226;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2343;gnomADv4_1_nhomalt_joint_XX=1273;gnomADv4_1_nhomalt_joint_XY=1070;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29747704 chr22_29747704_G_C G C 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.862;CADD_Rawscore=0.145076;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||2/5|ENST00000344318.4:c.127+714C>G|||||||rs140124||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29747704G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron|2/2||ENST00000489010.1:n.931C>G||931|||||rs140124||-1||HGNC|HGNC:28046|2||||||||Ensembl||G|G||||chr22:g.29747704G>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||2/5|NM_001003692.2:c.127+714C>G|||||||rs140124||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29747704G>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||2/5|NM_001318129.2:c.127+714C>G|||||||rs140124||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29747704G>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||3/6|NM_019103.3:c.127+714C>G|||||||rs140124||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29747704G>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|9|-8|44|-19;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=47565;gnomADv4_1_AC_joint_XX=24785;gnomADv4_1_AC_joint_XY=22780;gnomADv4_1_AF_grpmax_joint=0.602352;gnomADv4_1_AF_joint=0.309;gnomADv4_1_AF_joint_XX=0.315419;gnomADv4_1_AF_joint_XY=0.302306;gnomADv4_1_AN_grpmax_joint=5188;gnomADv4_1_AN_joint=153932;gnomADv4_1_AN_joint_XX=78578;gnomADv4_1_AN_joint_XY=75354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8647;gnomADv4_1_nhomalt_joint_XX=4623;gnomADv4_1_nhomalt_joint_XY=4024;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29749602 chr22_29749602_C_T C T 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.705;CADD_Rawscore=0.121811;CSQ=T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-1031G>A|||||||rs131265||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29749602C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-1031G>A|||||||rs131265||-1||HGNC|HGNC:28046|2||||||||Ensembl||C|C||||chr22:g.29749602C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-1031G>A|||||||rs131265||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29749602C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-1031G>A|||||||rs131265||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29749602C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||2/6|NM_019103.3:c.-27-1031G>A|||||||rs131265||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29749602C>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|-2|37|-7|-38;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=70983;gnomADv4_1_AC_joint_XX=37124;gnomADv4_1_AC_joint_XY=33859;gnomADv4_1_AF_grpmax_joint=0.602554;gnomADv4_1_AF_joint=0.466926;gnomADv4_1_AF_joint_XX=0.477565;gnomADv4_1_AF_joint_XY=0.455792;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16923;gnomADv4_1_nhomalt_joint_XX=9023;gnomADv4_1_nhomalt_joint_XY=7900;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29749728 chr22_29749728_G_T G T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.273;CADD_Rawscore=0.300052;CSQ=T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-1157C>A|||||||rs131266||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29749728G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-1157C>A|||||||rs131266||-1||HGNC|HGNC:28046|2||||||||Ensembl||G|G||||chr22:g.29749728G>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-1157C>A|||||||rs131266||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29749728G>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-1157C>A|||||||rs131266||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29749728G>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||2/6|NM_019103.3:c.-27-1157C>A|||||||rs131266||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29749728G>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|-20|15|15|37;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=70978;gnomADv4_1_AC_joint_XX=37112;gnomADv4_1_AC_joint_XY=33866;gnomADv4_1_AF_grpmax_joint=0.601751;gnomADv4_1_AF_joint=0.46704;gnomADv4_1_AF_joint_XX=0.477693;gnomADv4_1_AF_joint_XY=0.455899;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151974;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16929;gnomADv4_1_nhomalt_joint_XX=9022;gnomADv4_1_nhomalt_joint_XY=7907;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29750518 chr22_29750518_G_A G A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.016;CADD_Rawscore=-1.12455;CSQ=A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-1947C>T|||||||rs140125||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29750518G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-1947C>T|||||||rs140125||-1||HGNC|HGNC:28046|2||||||||Ensembl||G|G||||chr22:g.29750518G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-1947C>T|||||||rs140125||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29750518G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-1947C>T|||||||rs140125||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29750518G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||2/6|NM_019103.3:c.-27-1947C>T|||||||rs140125||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29750518G>A|||||||||||||;SpliceAI=A|ZMAT5|0.00|0.00|0.00|0.00|18|39|9|-46;TYPE=SNP;VEP_Allele=A,A,A,A,A;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=120416;gnomADv4_1_AC_joint_XX=61905;gnomADv4_1_AC_joint_XY=58511;gnomADv4_1_AF_grpmax_joint=0.949239;gnomADv4_1_AF_joint=0.791554;gnomADv4_1_AF_joint_XX=0.796226;gnomADv4_1_AF_joint_XY=0.786671;gnomADv4_1_AN_grpmax_joint=41528;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=48453;gnomADv4_1_nhomalt_joint_XX=25086;gnomADv4_1_nhomalt_joint_XY=23367;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29751049 chr22_29751049_T_C T C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=19.73;CADD_Rawscore=2.67079;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-2478A>G|||||||rs140126||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29751049T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-2478A>G|||||||rs140126||-1||HGNC|HGNC:28046|2||||||||Ensembl||T|T||||chr22:g.29751049T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-2478A>G|||||||rs140126||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29751049T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-2478A>G|||||||rs140126||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29751049T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||2/6|NM_019103.3:c.-27-2478A>G|||||||rs140126||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29751049T>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|-5|-19|1|-41;TYPE=SNP;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=81097;gnomADv4_1_AC_joint_XX=42164;gnomADv4_1_AC_joint_XY=38933;gnomADv4_1_AF_grpmax_joint=0.620116;gnomADv4_1_AF_joint=0.533414;gnomADv4_1_AF_joint_XX=0.542358;gnomADv4_1_AF_joint_XY=0.524054;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152034;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=22010;gnomADv4_1_nhomalt_joint_XX=11610;gnomADv4_1_nhomalt_joint_XY=10400;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29751221 chr22_29751221_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.851;CADD_Rawscore=0.143436;CSQ=A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-2650C>T|||||||rs1034779||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29751221G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-2650C>T|||||||rs1034779||-1||HGNC|HGNC:28046|2||||||||Ensembl||G|G||||chr22:g.29751221G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-2650C>T|||||||rs1034779||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29751221G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-2650C>T|||||||rs1034779||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29751221G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||2/6|NM_019103.3:c.-27-2650C>T|||||||rs1034779||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29751221G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8TLN6|enhancer||||||||||rs1034779|||||||||||||||||||||chr22:g.29751221G>A|||||||||||||;SpliceAI=A|ZMAT5|0.00|0.00|0.00|0.00|-21|13|36|18;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3,ENSR22_8TLN6;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954,.;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=20361;gnomADv4_1_AC_joint_XX=10247;gnomADv4_1_AC_joint_XY=10114;gnomADv4_1_AF_grpmax_joint=0.237957;gnomADv4_1_AF_joint=0.133899;gnomADv4_1_AF_joint_XX=0.131825;gnomADv4_1_AF_joint_XY=0.136069;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1503;gnomADv4_1_nhomalt_joint_XX=752;gnomADv4_1_nhomalt_joint_XY=751;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29751872 chr22_29751872_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.075;CADD_Rawscore=-0.688975;CSQ=G|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-3301T>C|||||||rs131267||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29751872A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-3301T>C|||||||rs131267||-1||HGNC|HGNC:28046|2||||||||Ensembl||A|A||||chr22:g.29751872A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-3301T>C|||||||rs131267||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29751872A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-3301T>C|||||||rs131267||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29751872A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||2/6|NM_019103.3:c.-28+2877T>C|||||||rs131267||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29751872A>G|||||||||||||;SpliceAI=G|ZMAT5|0.00|0.00|0.00|0.00|40|30|-30|-50;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=80651;gnomADv4_1_AC_joint_XX=41978;gnomADv4_1_AC_joint_XY=38673;gnomADv4_1_AF_grpmax_joint=0.619637;gnomADv4_1_AF_joint=0.530955;gnomADv4_1_AF_joint_XX=0.540438;gnomADv4_1_AF_joint_XY=0.521031;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=151898;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21774;gnomADv4_1_nhomalt_joint_XX=11507;gnomADv4_1_nhomalt_joint_XY=10267;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29751949 chr22_29751949_C_G C G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.106;CADD_Rawscore=-0.596789;CSQ=G|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-3378G>C|||||||rs131268||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29751949C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-3378G>C|||||||rs131268||-1||HGNC|HGNC:28046|2||||||||Ensembl||C|C||||chr22:g.29751949C>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-3378G>C|||||||rs131268||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29751949C>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-3378G>C|||||||rs131268||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29751949C>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||2/6|NM_019103.3:c.-28+2800G>C|||||||rs131268||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29751949C>G|||||||||||||;SpliceAI=G|ZMAT5|0.00|0.00|0.00|0.00|-11|32|-11|32;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=80577;gnomADv4_1_AC_joint_XX=41928;gnomADv4_1_AC_joint_XY=38649;gnomADv4_1_AF_grpmax_joint=0.620643;gnomADv4_1_AF_joint=0.531265;gnomADv4_1_AF_joint_XX=0.540672;gnomADv4_1_AF_joint_XY=0.521424;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=151670;gnomADv4_1_AN_joint_XX=77548;gnomADv4_1_AN_joint_XY=74122;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21751;gnomADv4_1_nhomalt_joint_XX=11494;gnomADv4_1_nhomalt_joint_XY=10257;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29753516 chr22_29753516_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.007;CADD_Rawscore=0.275126;CSQ=T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-4945G>A|||||||rs131269||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29753516C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-4945G>A|||||||rs131269||-1||HGNC|HGNC:28046|2||||||||Ensembl||C|C||||chr22:g.29753516C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-4945G>A|||||||rs131269||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29753516C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-4945G>A|||||||rs131269||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29753516C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||2/6|NM_019103.3:c.-28+1233G>A|||||||rs131269||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29753516C>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|5|-1|13|5;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=40205;gnomADv4_1_AC_joint_XX=21445;gnomADv4_1_AC_joint_XY=18760;gnomADv4_1_AF_grpmax_joint=0.388139;gnomADv4_1_AF_joint=0.264946;gnomADv4_1_AF_joint_XX=0.276403;gnomADv4_1_AF_joint_XY=0.25296;gnomADv4_1_AN_grpmax_joint=67834;gnomADv4_1_AN_joint=151748;gnomADv4_1_AN_joint_XX=77586;gnomADv4_1_AN_joint_XY=74162;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6753;gnomADv4_1_nhomalt_joint_XX=3753;gnomADv4_1_nhomalt_joint_XY=3000;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29753557 chr22_29753557_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.329;CADD_Rawscore=0.056415;CSQ=T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-4986G>A|||||||rs140127||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29753557C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-4986G>A|||||||rs140127||-1||HGNC|HGNC:28046|2||||||||Ensembl||C|C||||chr22:g.29753557C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-4986G>A|||||||rs140127||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29753557C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-4986G>A|||||||rs140127||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29753557C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||2/6|NM_019103.3:c.-28+1192G>A|||||||rs140127||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29753557C>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|-36|6|7|49;TYPE=SNP;VEP_Allele=T,T,T,T,T;VEP_Feature=ENST00000344318,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=80365;gnomADv4_1_AC_joint_XX=41850;gnomADv4_1_AC_joint_XY=38515;gnomADv4_1_AF_grpmax_joint=0.619196;gnomADv4_1_AF_joint=0.531023;gnomADv4_1_AF_joint_XX=0.540418;gnomADv4_1_AF_joint_XY=0.521177;gnomADv4_1_AN_grpmax_joint=5126;gnomADv4_1_AN_joint=151340;gnomADv4_1_AN_joint_XX=77440;gnomADv4_1_AN_joint_XY=73900;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21662;gnomADv4_1_nhomalt_joint_XX=11456;gnomADv4_1_nhomalt_joint_XY=10206;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29753907 chr22_29753907_C_T C T 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.018;CADD_Rawscore=-1.08585;CSQ=T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-5336G>A|||||||rs131270||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29753907C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs131270|4851|1||RFAM||||||||||Ensembl||C|C||||chr22:g.29753907C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-5336G>A|||||||rs131270||-1||HGNC|HGNC:28046|2||||||||Ensembl||C|C||||chr22:g.29753907C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-5336G>A|||||||rs131270||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29753907C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-5336G>A|||||||rs131270||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29753907C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||2/6|NM_019103.3:c.-28+842G>A|||||||rs131270||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29753907C>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|10|21|-2|21;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=63851;gnomADv4_1_AC_joint_XX=33332;gnomADv4_1_AC_joint_XY=30519;gnomADv4_1_AF_grpmax_joint=0.603056;gnomADv4_1_AF_joint=0.420959;gnomADv4_1_AF_joint_XX=0.429669;gnomADv4_1_AF_joint_XY=0.41184;gnomADv4_1_AN_grpmax_joint=5104;gnomADv4_1_AN_joint=151680;gnomADv4_1_AN_joint_XX=77576;gnomADv4_1_AN_joint_XY=74104;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14000;gnomADv4_1_nhomalt_joint_XX=7466;gnomADv4_1_nhomalt_joint_XY=6534;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29754151 chr22_29754151_T_C T C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=14.77;CADD_Rawscore=1.60202;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-5580A>G|||||||rs140128||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29754151T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs140128|4607|1||RFAM||||||||||Ensembl||T|T||||chr22:g.29754151T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-5580A>G|||||||rs140128||-1||HGNC|HGNC:28046|2||||||||Ensembl||T|T||||chr22:g.29754151T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-5580A>G|||||||rs140128||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29754151T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-5580A>G|||||||rs140128||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29754151T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||2/6|NM_019103.3:c.-28+598A>G|||||||rs140128||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29754151T>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|36|-17|1|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=80941;gnomADv4_1_AC_joint_XX=42106;gnomADv4_1_AC_joint_XY=38835;gnomADv4_1_AF_grpmax_joint=0.619476;gnomADv4_1_AF_joint=0.533054;gnomADv4_1_AF_joint_XX=0.542142;gnomADv4_1_AF_joint_XY=0.523538;gnomADv4_1_AN_grpmax_joint=5114;gnomADv4_1_AN_joint=151844;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=74178;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21944;gnomADv4_1_nhomalt_joint_XX=11587;gnomADv4_1_nhomalt_joint_XY=10357;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29754560 chr22_29754560_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.451;CADD_Rawscore=-0.21903;CSQ=T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-5989G>A|||||||rs140129||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29754560C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs140129|4198|1||RFAM||||||||||Ensembl||C|C||||chr22:g.29754560C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-5989G>A|||||||rs140129||-1||HGNC|HGNC:28046|2||||||||Ensembl||C|C||||chr22:g.29754560C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-5989G>A|||||||rs140129||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29754560C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-5989G>A|||||||rs140129||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29754560C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||2/6|NM_019103.3:c.-28+189G>A|||||||rs140129||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29754560C>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|-37|50|-2|0;TYPE=SNP;VEP_Allele=T,T,T,T,T,T;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=63994;gnomADv4_1_AC_joint_XX=33387;gnomADv4_1_AC_joint_XY=30607;gnomADv4_1_AF_grpmax_joint=0.604449;gnomADv4_1_AF_joint=0.420886;gnomADv4_1_AF_joint_XX=0.429547;gnomADv4_1_AF_joint_XY=0.411827;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14045;gnomADv4_1_nhomalt_joint_XX=7484;gnomADv4_1_nhomalt_joint_XY=6561;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29755326 chr22_29755326_GGAGA_G GGAGA G 13 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=13;CADDIndel_PHREDscore=0.513;CADDIndel_Rawscore=-0.18683;CSQ=-|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-6759_-27-6756del|||||||rs773315268||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||GAGA|GAGA||||chr22:g.29755338_29755341del|||||||||||||,-|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs773315268|3428|1||RFAM||||||||||Ensembl||GAGA|GAGA||||chr22:g.29755338_29755341del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-6759_64-6756del|||||||rs773315268||-1||HGNC|HGNC:28046|2||||||||Ensembl||GAGA|GAGA||||chr22:g.29755338_29755341del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-6759_-27-6756del|||||||rs773315268||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||GAGA|GAGA||||chr22:g.29755338_29755341del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-6759_-27-6756del|||||||rs773315268||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||GAGA|GAGA||||chr22:g.29755338_29755341del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-467_-142-464del|||||||rs773315268||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||GAGA|GAGA||||chr22:g.29755338_29755341del|||||||||||||;SpliceAI=G|ZMAT5|0.00|0.00|0.00|0.00|-40|2|-20|-39;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=33353;gnomADv4_1_AC_joint_XX=18318;gnomADv4_1_AC_joint_XY=15035;gnomADv4_1_AF_grpmax_joint=0.65819;gnomADv4_1_AF_joint=0.365184;gnomADv4_1_AF_joint_XX=0.37341;gnomADv4_1_AF_joint_XY=0.355639;gnomADv4_1_AN_grpmax_joint=3028;gnomADv4_1_AN_joint=91332;gnomADv4_1_AN_joint_XX=49056;gnomADv4_1_AN_joint_XY=42276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7367;gnomADv4_1_nhomalt_joint_XX=4100;gnomADv4_1_nhomalt_joint_XY=3267;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29755338 chr22_29755338_A_G A G 13 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=13;CADD_PHREDscore=2.556;CADD_Rawscore=0.229754;CSQ=G|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-6767T>C|||||||rs196735||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29755338A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs196735|3420|1||RFAM||||||||||Ensembl||A|A||||chr22:g.29755338A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-6767T>C|||||||rs196735||-1||HGNC|HGNC:28046|2||||||||Ensembl||A|A||||chr22:g.29755338A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-6767T>C|||||||rs196735||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29755338A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-6767T>C|||||||rs196735||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29755338A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-475T>C|||||||rs196735||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29755338A>G|||||||||||||;SpliceAI=G|ZMAT5|0.00|0.00|0.00|0.00|-23|-8|-20|-11;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=4523;gnomADv4_1_AC_joint_XX=2560;gnomADv4_1_AC_joint_XY=1963;gnomADv4_1_AF_grpmax_joint=0.129258;gnomADv4_1_AF_joint=0.115189;gnomADv4_1_AF_joint_XX=0.120482;gnomADv4_1_AF_joint_XY=0.108947;gnomADv4_1_AN_grpmax_joint=19728;gnomADv4_1_AN_joint=39266;gnomADv4_1_AN_joint_XX=21248;gnomADv4_1_AN_joint_XY=18018;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=281;gnomADv4_1_nhomalt_joint_XX=166;gnomADv4_1_nhomalt_joint_XY=115;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29755362 chr22_29755362_GGA_G GGA G 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADDIndel_PHREDscore=0.314;CADDIndel_Rawscore=-0.310489;CSQ=-|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-6793_-27-6792del|||||||rs778068339||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||GA|GA||||chr22:g.29755364_29755365del|||||||||||||,-|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs778068339|3394|1||RFAM||||||||||Ensembl||GA|GA||||chr22:g.29755364_29755365del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-6793_64-6792del|||||||rs778068339||-1||HGNC|HGNC:28046|2||||||||Ensembl||GA|GA||||chr22:g.29755364_29755365del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-6793_-27-6792del|||||||rs778068339||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||GA|GA||||chr22:g.29755364_29755365del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-6793_-27-6792del|||||||rs778068339||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||GA|GA||||chr22:g.29755364_29755365del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-501_-142-500del|||||||rs778068339||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||GA|GA||||chr22:g.29755364_29755365del|||||||||||||;SpliceAI=G|ZMAT5|0.00|0.00|0.00|0.00|-36|-47|-49|-48;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=1204;gnomADv4_1_AC_joint_XX=617;gnomADv4_1_AC_joint_XY=587;gnomADv4_1_AF_grpmax_joint=0.159237;gnomADv4_1_AF_joint=0.0628261;gnomADv4_1_AF_joint_XX=0.0616877;gnomADv4_1_AF_joint_XY=0.064069;gnomADv4_1_AN_grpmax_joint=4980;gnomADv4_1_AN_joint=19164;gnomADv4_1_AN_joint_XX=10002;gnomADv4_1_AN_joint_XY=9162;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20;gnomADv4_1_nhomalt_joint_XX=14;gnomADv4_1_nhomalt_joint_XY=6;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29755368 chr22_29755368_G_GGA;chr22_29755368_G_A G A 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=11;CADD_PHREDscore=0.385;CADD_Rawscore=-0.258795;CSQ=A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-6797C>T|||||||rs8184954||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29755368G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs8184954|3390|1||RFAM||||||||||Ensembl||G|G||||chr22:g.29755368G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-6797C>T|||||||rs8184954||-1||HGNC|HGNC:28046|2||||||||Ensembl||G|G||||chr22:g.29755368G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-6797C>T|||||||rs8184954||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29755368G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-6797C>T|||||||rs8184954||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29755368G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-505C>T|||||||rs8184954||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29755368G>A|||||||||||||;SpliceAI=A|ZMAT5|0.00|0.00|0.00|0.00|6|-30|7|12;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=1047;gnomADv4_1_AC_joint_XX=540;gnomADv4_1_AC_joint_XY=507;gnomADv4_1_AF_grpmax_joint=0.0600603;gnomADv4_1_AF_joint=0.0176769;gnomADv4_1_AF_joint_XX=0.0166574;gnomADv4_1_AF_joint_XY=0.0189094;gnomADv4_1_AN_grpmax_joint=10606;gnomADv4_1_AN_joint=59230;gnomADv4_1_AN_joint_XX=32418;gnomADv4_1_AN_joint_XY=26812;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22;gnomADv4_1_nhomalt_joint_XX=16;gnomADv4_1_nhomalt_joint_XY=6;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29755368 chr22_29755368_G_GGA;chr22_29755368_G_A G GGA 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=14;CADDIndel_PHREDscore=0.14;CADDIndel_Rawscore=-0.520906;CSQ=GA|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-6799_-27-6798dup|||||||rs11474564||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl|||||||chr22:g.29755383_29755384dup|||||||||||||,GA|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs11474564|3389|1||RFAM||||||||||Ensembl|||||||chr22:g.29755383_29755384dup|||||||||||||,GA|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-6799_64-6798dup|||||||rs11474564||-1||HGNC|HGNC:28046|2||||||||Ensembl|||||||chr22:g.29755383_29755384dup|||||||||||||,GA|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-6799_-27-6798dup|||||||rs11474564||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq|||||||chr22:g.29755383_29755384dup|||||||||||||,GA|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-6799_-27-6798dup|||||||rs11474564||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq|||||||chr22:g.29755383_29755384dup|||||||||||||,GA|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-507_-142-506dup|||||||rs11474564||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq|||||||chr22:g.29755383_29755384dup|||||||||||||;TYPE=INDEL;VEP_Allele=GA,GA,GA,GA,GA,GA;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=32879;gnomADv4_1_AC_joint_XX=18257;gnomADv4_1_AC_joint_XY=14622;gnomADv4_1_AF_grpmax_joint=0.798185;gnomADv4_1_AF_joint=0.558236;gnomADv4_1_AF_joint_XX=0.566776;gnomADv4_1_AF_joint_XY=0.547928;gnomADv4_1_AN_grpmax_joint=2314;gnomADv4_1_AN_joint=58898;gnomADv4_1_AN_joint_XX=32212;gnomADv4_1_AN_joint_XY=26686;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9676;gnomADv4_1_nhomalt_joint_XX=5426;gnomADv4_1_nhomalt_joint_XY=4250;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29755593 chr22_29755593_A_G A G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=3.721;CADD_Rawscore=0.340505;CSQ=G|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-7022T>C|||||||rs131271||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29755593A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs131271|3165|1||RFAM||||||||||Ensembl||A|A||||chr22:g.29755593A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-7022T>C|||||||rs131271||-1||HGNC|HGNC:28046|2||||||||Ensembl||A|A||||chr22:g.29755593A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-7022T>C|||||||rs131271||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29755593A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-7022T>C|||||||rs131271||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29755593A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-730T>C|||||||rs131271||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29755593A>G|||||||||||||;SpliceAI=G|ZMAT5|0.00|0.00|0.00|0.00|2|-9|15|41;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=63912;gnomADv4_1_AC_joint_XX=33369;gnomADv4_1_AC_joint_XY=30543;gnomADv4_1_AF_grpmax_joint=0.603455;gnomADv4_1_AF_joint=0.4209;gnomADv4_1_AF_joint_XX=0.429736;gnomADv4_1_AF_joint_XY=0.411653;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151846;gnomADv4_1_AN_joint_XX=77650;gnomADv4_1_AN_joint_XY=74196;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14024;gnomADv4_1_nhomalt_joint_XX=7479;gnomADv4_1_nhomalt_joint_XY=6545;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29755698 chr22_29755698_T_C T C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.555;CADD_Rawscore=0.097514;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-7127A>G|||||||rs140130||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29755698T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs140130|3060|1||RFAM||||||||||Ensembl||T|T||||chr22:g.29755698T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-7127A>G|||||||rs140130||-1||HGNC|HGNC:28046|2||||||||Ensembl||T|T||||chr22:g.29755698T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-7127A>G|||||||rs140130||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29755698T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-7127A>G|||||||rs140130||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29755698T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-835A>G|||||||rs140130||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29755698T>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|-1|-5|19|-5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=95127;gnomADv4_1_AC_joint_XX=49053;gnomADv4_1_AC_joint_XY=46074;gnomADv4_1_AF_grpmax_joint=0.738871;gnomADv4_1_AF_joint=0.625803;gnomADv4_1_AF_joint_XX=0.631215;gnomADv4_1_AF_joint_XY=0.620141;gnomADv4_1_AN_grpmax_joint=41470;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=30263;gnomADv4_1_nhomalt_joint_XX=15751;gnomADv4_1_nhomalt_joint_XY=14512;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29755727 chr22_29755727_A_G A G 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.257;CADD_Rawscore=-0.36195;CSQ=G|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-7156T>C|||||||rs140131||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29755727A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs140131|3031|1||RFAM||||||||||Ensembl||A|A||||chr22:g.29755727A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-7156T>C|||||||rs140131||-1||HGNC|HGNC:28046|2||||||||Ensembl||A|A||||chr22:g.29755727A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-7156T>C|||||||rs140131||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29755727A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-7156T>C|||||||rs140131||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29755727A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-864T>C|||||||rs140131||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29755727A>G|||||||||||||;SpliceAI=G|ZMAT5|0.00|0.00|0.00|0.00|-34|-12|-10|39;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=64586;gnomADv4_1_AC_joint_XX=33675;gnomADv4_1_AC_joint_XY=30911;gnomADv4_1_AF_grpmax_joint=0.638389;gnomADv4_1_AF_joint=0.466136;gnomADv4_1_AF_joint_XX=0.47311;gnomADv4_1_AF_joint_XY=0.45877;gnomADv4_1_AN_grpmax_joint=4892;gnomADv4_1_AN_joint=138556;gnomADv4_1_AN_joint_XX=71178;gnomADv4_1_AN_joint_XY=67378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14241;gnomADv4_1_nhomalt_joint_XX=7592;gnomADv4_1_nhomalt_joint_XY=6649;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29755741 chr22_29755741_C_CACTT C CACTT 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=1.226;CADDIndel_Rawscore=0.035163;CSQ=ACTT|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-7171_-27-7170insAAGT|||||||||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl|||||||chr22:g.29755743_29755744insTTAC|||||||||||||,ACTT|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA|||||||||||3016|1||RFAM||||||||||Ensembl|||||||chr22:g.29755743_29755744insTTAC|||||||||||||,ACTT|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-7171_64-7170insAAGT|||||||||-1||HGNC|HGNC:28046|2||||||||Ensembl|||||||chr22:g.29755743_29755744insTTAC|||||||||||||,ACTT|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-7171_-27-7170insAAGT|||||||||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq|||||||chr22:g.29755743_29755744insTTAC|||||||||||||,ACTT|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-7171_-27-7170insAAGT|||||||||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq|||||||chr22:g.29755743_29755744insTTAC|||||||||||||,ACTT|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-879_-142-878insAAGT|||||||||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq|||||||chr22:g.29755743_29755744insTTAC|||||||||||||;TYPE=INDEL;VEP_Allele=ACTT,ACTT,ACTT,ACTT,ACTT,ACTT;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=118248;gnomADv4_1_AC_joint_XX=60748;gnomADv4_1_AC_joint_XY=57500;gnomADv4_1_AF_grpmax_joint=0.909232;gnomADv4_1_AF_joint=0.778665;gnomADv4_1_AF_joint_XX=0.78225;gnomADv4_1_AF_joint_XY=0.774912;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151860;gnomADv4_1_AN_joint_XX=77658;gnomADv4_1_AN_joint_XY=74202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46551;gnomADv4_1_nhomalt_joint_XX=24058;gnomADv4_1_nhomalt_joint_XY=22493;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29756533 chr22_29756533_G_C G C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.918;CADD_Rawscore=-0.039857;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-7962C>G|||||||rs140133||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29756533G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs140133|2225|1||RFAM||||||||||Ensembl||G|G||||chr22:g.29756533G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-7962C>G|||||||rs140133||-1||HGNC|HGNC:28046|2||||||||Ensembl||G|G||||chr22:g.29756533G>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-7962C>G|||||||rs140133||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29756533G>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-7962C>G|||||||rs140133||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29756533G>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-1670C>G|||||||rs140133||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29756533G>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|-50|31|10|6;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=63951;gnomADv4_1_AC_joint_XX=33362;gnomADv4_1_AC_joint_XY=30589;gnomADv4_1_AF_grpmax_joint=0.602251;gnomADv4_1_AF_joint=0.420769;gnomADv4_1_AF_joint_XX=0.429491;gnomADv4_1_AF_joint_XY=0.411652;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151986;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14038;gnomADv4_1_nhomalt_joint_XX=7479;gnomADv4_1_nhomalt_joint_XY=6559;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29757666 chr22_29757666_A_G A G 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=5.721;CADD_Rawscore=0.525267;CSQ=G|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-27-9095T>C|||||||rs131272||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29757666A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs131272|1092|1||RFAM||||||||||Ensembl||A|A||||chr22:g.29757666A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-9095T>C|||||||rs131272||-1||HGNC|HGNC:28046|2||||||||Ensembl||A|A||||chr22:g.29757666A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-27-9095T>C|||||||rs131272||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29757666A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-9095T>C|||||||rs131272||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29757666A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-2803T>C|||||||rs131272||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29757666A>G|||||||||||||;SpliceAI=G|ZMAT5|0.02|0.00|0.01|0.00|-3|1|-38|-4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=63576;gnomADv4_1_AC_joint_XX=33181;gnomADv4_1_AC_joint_XY=30395;gnomADv4_1_AF_grpmax_joint=0.604547;gnomADv4_1_AF_joint=0.418263;gnomADv4_1_AF_joint_XX=0.426996;gnomADv4_1_AF_joint_XY=0.409129;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=152000;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13921;gnomADv4_1_nhomalt_joint_XX=7429;gnomADv4_1_nhomalt_joint_XY=6492;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29757732 chr22_29757732_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.246;CADD_Rawscore=0.194851;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+9140A>G|||||||rs131273||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29757732T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs131273|1026|1||RFAM||||||||||Ensembl||T|T||||chr22:g.29757732T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.64-9161A>G|||||||rs131273||-1||HGNC|HGNC:28046|2||||||||Ensembl||T|T||||chr22:g.29757732T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+9140A>G|||||||rs131273||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29757732T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-27-9161A>G|||||||rs131273||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29757732T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-2869A>G|||||||rs131273||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29757732T>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|26|-2|26|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=62829;gnomADv4_1_AC_joint_XX=32806;gnomADv4_1_AC_joint_XY=30023;gnomADv4_1_AF_grpmax_joint=0.603221;gnomADv4_1_AF_joint=0.413419;gnomADv4_1_AF_joint_XX=0.422257;gnomADv4_1_AF_joint_XY=0.404176;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151974;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13686;gnomADv4_1_nhomalt_joint_XX=7303;gnomADv4_1_nhomalt_joint_XY=6383;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29757875 chr22_29757875_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.14;CADD_Rawscore=-0.521702;CSQ=A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+8997C>T|||||||rs131274||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29757875G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs131274|883|1||RFAM||||||||||Ensembl||G|G||||chr22:g.29757875G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+9074C>T|||||||rs131274||-1||HGNC|HGNC:28046|2||||||||Ensembl||G|G||||chr22:g.29757875G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+8997C>T|||||||rs131274||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29757875G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+9074C>T|||||||rs131274||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29757875G>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-3012C>T|||||||rs131274||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29757875G>A|||||||||||||;SpliceAI=A|ZMAT5|0.00|0.00|0.00|0.00|-22|-17|-22|17;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=46910;gnomADv4_1_AC_joint_XX=24477;gnomADv4_1_AC_joint_XY=22433;gnomADv4_1_AF_grpmax_joint=0.602953;gnomADv4_1_AF_joint=0.30859;gnomADv4_1_AF_joint_XX=0.314987;gnomADv4_1_AF_joint_XY=0.3019;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8524;gnomADv4_1_nhomalt_joint_XX=4566;gnomADv4_1_nhomalt_joint_XY=3958;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29757941 chr22_29757941_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.263;CADD_Rawscore=-0.355995;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+8931A>G|||||||rs131275||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29757941T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs131275|817|1||RFAM||||||||||Ensembl||T|T||||chr22:g.29757941T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+9008A>G|||||||rs131275||-1||HGNC|HGNC:28046|2||||||||Ensembl||T|T||||chr22:g.29757941T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+8931A>G|||||||rs131275||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29757941T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+9008A>G|||||||rs131275||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29757941T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-3078A>G|||||||rs131275||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29757941T>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|-49|-2|-49|-1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=79744;gnomADv4_1_AC_joint_XX=41505;gnomADv4_1_AC_joint_XY=38239;gnomADv4_1_AF_grpmax_joint=0.619688;gnomADv4_1_AF_joint=0.526231;gnomADv4_1_AF_joint_XX=0.535314;gnomADv4_1_AF_joint_XY=0.516715;gnomADv4_1_AN_grpmax_joint=5130;gnomADv4_1_AN_joint=151538;gnomADv4_1_AN_joint_XX=77534;gnomADv4_1_AN_joint_XY=74004;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21295;gnomADv4_1_nhomalt_joint_XX=11253;gnomADv4_1_nhomalt_joint_XY=10042;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29758112 chr22_29758112_C_A C A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.746;CADD_Rawscore=-0.092999;CSQ=A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+8760G>T|||||||rs131277||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29758112C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs131277|646|1||RFAM||||||||||Ensembl||C|C||||chr22:g.29758112C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+8837G>T|||||||rs131277||-1||HGNC|HGNC:28046|2||||||||Ensembl||C|C||||chr22:g.29758112C>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+8760G>T|||||||rs131277||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29758112C>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+8837G>T|||||||rs131277||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29758112C>A|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-3249G>T|||||||rs131277||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29758112C>A|||||||||||||;SpliceAI=A|ZMAT5|0.00|0.00|0.00|0.00|-16|-4|42|-4;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=62819;gnomADv4_1_AC_joint_XX=32804;gnomADv4_1_AC_joint_XY=30015;gnomADv4_1_AF_grpmax_joint=0.604142;gnomADv4_1_AF_joint=0.413484;gnomADv4_1_AF_joint_XX=0.422329;gnomADv4_1_AF_joint_XY=0.404232;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151926;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13683;gnomADv4_1_nhomalt_joint_XX=7303;gnomADv4_1_nhomalt_joint_XY=6380;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29759124 chr22_29759124_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=11.08;CADD_Rawscore=1.06918;CSQ=G|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+7748T>C|||||||rs131278||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29759124A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs131278|265|1||RFAM||||||||||Ensembl||A|A||||chr22:g.29759124A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+7825T>C|||||||rs131278||-1||HGNC|HGNC:28046|2||||||||Ensembl||A|A||||chr22:g.29759124A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+7748T>C|||||||rs131278||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29759124A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+7825T>C|||||||rs131278||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29759124A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-4261T>C|||||||rs131278||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29759124A>G|||||||||||||;SpliceAI=G|ZMAT5|0.00|0.00|0.00|0.00|38|8|-27|-46;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=119679;gnomADv4_1_AC_joint_XX=61467;gnomADv4_1_AC_joint_XY=58212;gnomADv4_1_AF_grpmax_joint=0.924369;gnomADv4_1_AF_joint=0.786586;gnomADv4_1_AF_joint_XX=0.790389;gnomADv4_1_AF_joint_XY=0.782609;gnomADv4_1_AN_grpmax_joint=41544;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=47712;gnomADv4_1_nhomalt_joint_XX=24656;gnomADv4_1_nhomalt_joint_XY=23056;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29759262 chr22_29759262_G_C G C 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.069;CADD_Rawscore=-0.713118;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+7610C>G|||||||rs131279||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29759262G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs131279|403|1||RFAM||||||||||Ensembl||G|G||||chr22:g.29759262G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+7687C>G|||||||rs131279||-1||HGNC|HGNC:28046|2||||||||Ensembl||G|G||||chr22:g.29759262G>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+7610C>G|||||||rs131279||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29759262G>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+7687C>G|||||||rs131279||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29759262G>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-4399C>G|||||||rs131279||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29759262G>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|-41|17|26|-27;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=63486;gnomADv4_1_AC_joint_XX=33131;gnomADv4_1_AC_joint_XY=30355;gnomADv4_1_AF_grpmax_joint=0.603909;gnomADv4_1_AF_joint=0.418078;gnomADv4_1_AF_joint_XX=0.426693;gnomADv4_1_AF_joint_XY=0.409064;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=151852;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=74206;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13894;gnomADv4_1_nhomalt_joint_XX=7415;gnomADv4_1_nhomalt_joint_XY=6479;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29760070 chr22_29760070_A_C A C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.466;CADD_Rawscore=-0.210933;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+6802T>G|||||||rs5763466||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29760070A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs5763466|1211|1||RFAM||||||||||Ensembl||A|A||||chr22:g.29760070A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+6879T>G|||||||rs5763466||-1||HGNC|HGNC:28046|2||||||||Ensembl||A|A||||chr22:g.29760070A>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+6802T>G|||||||rs5763466||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29760070A>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+6879T>G|||||||rs5763466||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29760070A>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-5207T>G|||||||rs5763466||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29760070A>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|-37|-15|-24|6;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=35894;gnomADv4_1_AC_joint_XX=17905;gnomADv4_1_AC_joint_XY=17989;gnomADv4_1_AF_grpmax_joint=0.495847;gnomADv4_1_AF_joint=0.236163;gnomADv4_1_AF_joint_XX=0.230473;gnomADv4_1_AF_joint_XY=0.242113;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=151988;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4711;gnomADv4_1_nhomalt_joint_XX=2306;gnomADv4_1_nhomalt_joint_XY=2405;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29760375 chr22_29760375_C_CAA C CAA 35 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=1.08;CADDIndel_Rawscore=0.002108;CSQ=AA|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+6495_-28+6496dup|||||||rs131280||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl|||||||chr22:g.29760393_29760394dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs131280|1516|1||RFAM||||||||||Ensembl|||||||chr22:g.29760393_29760394dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+6572_63+6573dup|||||||rs131280||-1||HGNC|HGNC:28046|2||||||||Ensembl|||||||chr22:g.29760393_29760394dup|||||||||||||,AA|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+6495_-28+6496dup|||||||rs131280||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq|||||||chr22:g.29760393_29760394dup|||||||||||||,AA|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+6572_-28+6573dup|||||||rs131280||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq|||||||chr22:g.29760393_29760394dup|||||||||||||,AA|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-5514_-142-5513dup|||||||rs131280||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq|||||||chr22:g.29760393_29760394dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=40949;gnomADv4_1_AC_joint_XX=22727;gnomADv4_1_AC_joint_XY=18222;gnomADv4_1_AF_grpmax_joint=0.599493;gnomADv4_1_AF_joint=0.418146;gnomADv4_1_AF_joint_XX=0.429476;gnomADv4_1_AF_joint_XY=0.404825;gnomADv4_1_AN_grpmax_joint=3548;gnomADv4_1_AN_joint=97930;gnomADv4_1_AN_joint_XX=52918;gnomADv4_1_AN_joint_XY=45012;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8383;gnomADv4_1_nhomalt_joint_XX=4784;gnomADv4_1_nhomalt_joint_XY=3599;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29760441 chr22_29760441_A_G A G 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.951;CADD_Rawscore=0.157388;CSQ=G|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+6431T>C|||||||rs131281||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29760441A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs131281|1582|1||RFAM||||||||||Ensembl||A|A||||chr22:g.29760441A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+6508T>C|||||||rs131281||-1||HGNC|HGNC:28046|2||||||||Ensembl||A|A||||chr22:g.29760441A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+6431T>C|||||||rs131281||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29760441A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+6508T>C|||||||rs131281||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29760441A>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-5578T>C|||||||rs131281||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29760441A>G|||||||||||||;SpliceAI=G|ZMAT5|0.00|0.00|0.00|0.00|-43|-22|-7|-22;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=62870;gnomADv4_1_AC_joint_XX=32926;gnomADv4_1_AC_joint_XY=29944;gnomADv4_1_AF_grpmax_joint=0.601648;gnomADv4_1_AF_joint=0.416711;gnomADv4_1_AF_joint_XX=0.425951;gnomADv4_1_AF_joint_XY=0.407003;gnomADv4_1_AN_grpmax_joint=5096;gnomADv4_1_AN_joint=150872;gnomADv4_1_AN_joint_XX=77300;gnomADv4_1_AN_joint_XY=73572;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13735;gnomADv4_1_nhomalt_joint_XX=7367;gnomADv4_1_nhomalt_joint_XY=6368;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29760619 chr22_29760619_A_C A C 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.017;CADD_Rawscore=0.16621;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+6253T>G|||||||rs131282||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29760619A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs131282|1760|1||RFAM||||||||||Ensembl||A|A||||chr22:g.29760619A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+6330T>G|||||||rs131282||-1||HGNC|HGNC:28046|2||||||||Ensembl||A|A||||chr22:g.29760619A>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+6253T>G|||||||rs131282||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29760619A>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+6330T>G|||||||rs131282||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29760619A>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-142-5756T>G|||||||rs131282||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29760619A>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|-1|-5|0|23;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=61365;gnomADv4_1_AC_joint_XX=32019;gnomADv4_1_AC_joint_XY=29346;gnomADv4_1_AF_grpmax_joint=0.60407;gnomADv4_1_AF_joint=0.403807;gnomADv4_1_AF_joint_XX=0.412;gnomADv4_1_AF_joint_XY=0.395232;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151966;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13266;gnomADv4_1_nhomalt_joint_XX=7074;gnomADv4_1_nhomalt_joint_XY=6192;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29761269 chr22_29761269_C_CA C CA 22 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=22;CADDIndel_PHREDscore=0.207;CADDIndel_Rawscore=-0.418036;CSQ=A|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+5602dup|||||||rs131283||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl|||||||chr22:g.29761292dup|||||||||||||,A|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs131283|2410|1||RFAM||||||||||Ensembl|||||||chr22:g.29761292dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+5679dup|||||||rs131283||-1||HGNC|HGNC:28046|2||||||||Ensembl|||||||chr22:g.29761292dup|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+5602dup|||||||rs131283||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq|||||||chr22:g.29761292dup|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+5679dup|||||||rs131283||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq|||||||chr22:g.29761292dup|||||||||||||,A|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-143+5602dup|||||||rs131283||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq|||||||chr22:g.29761292dup|||||||||||||;SpliceAI=CA|ZMAT5|0.00|0.00|0.00|0.00|-3|3|2|-23;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=28299;gnomADv4_1_AC_joint_XX=15744;gnomADv4_1_AC_joint_XY=12555;gnomADv4_1_AF_grpmax_joint=0.762655;gnomADv4_1_AF_joint=0.476094;gnomADv4_1_AF_joint_XX=0.479971;gnomADv4_1_AF_joint_XY=0.471319;gnomADv4_1_AN_grpmax_joint=2094;gnomADv4_1_AN_joint=59440;gnomADv4_1_AN_joint_XX=32802;gnomADv4_1_AN_joint_XY=26638;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7215;gnomADv4_1_nhomalt_joint_XX=4035;gnomADv4_1_nhomalt_joint_XY=3180;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29761600 chr22_29761600_T_C T C 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.219;CADD_Rawscore=-0.403338;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+5272A>G|||||||rs131284||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29761600T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs131284|2741|1||RFAM||||||||||Ensembl||T|T||||chr22:g.29761600T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+5349A>G|||||||rs131284||-1||HGNC|HGNC:28046|2||||||||Ensembl||T|T||||chr22:g.29761600T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+5272A>G|||||||rs131284||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29761600T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+5349A>G|||||||rs131284||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29761600T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-143+5272A>G|||||||rs131284||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29761600T>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|24|-35|1|6;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=79919;gnomADv4_1_AC_joint_XX=41570;gnomADv4_1_AC_joint_XY=38349;gnomADv4_1_AF_grpmax_joint=0.622576;gnomADv4_1_AF_joint=0.526372;gnomADv4_1_AF_joint_XX=0.535544;gnomADv4_1_AF_joint_XY=0.516777;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151830;gnomADv4_1_AN_joint_XX=77622;gnomADv4_1_AN_joint_XY=74208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21367;gnomADv4_1_nhomalt_joint_XX=11283;gnomADv4_1_nhomalt_joint_XY=10084;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29761951 chr22_29761951_T_C T C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.345;CADD_Rawscore=0.059552;CSQ=C|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+4921A>G|||||||rs131285||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29761951T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs131285|3092|1||RFAM||||||||||Ensembl||T|T||||chr22:g.29761951T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+4998A>G|||||||rs131285||-1||HGNC|HGNC:28046|2||||||||Ensembl||T|T||||chr22:g.29761951T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+4921A>G|||||||rs131285||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29761951T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+4998A>G|||||||rs131285||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29761951T>C|||||||||||||,C|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-143+4921A>G|||||||rs131285||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29761951T>C|||||||||||||;SpliceAI=C|ZMAT5|0.00|0.00|0.00|0.00|13|-41|48|28;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=61966;gnomADv4_1_AC_joint_XX=32306;gnomADv4_1_AC_joint_XY=29660;gnomADv4_1_AF_grpmax_joint=0.603215;gnomADv4_1_AF_joint=0.407811;gnomADv4_1_AF_joint_XX=0.415886;gnomADv4_1_AF_joint_XY=0.399364;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=151948;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74268;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13436;gnomADv4_1_nhomalt_joint_XX=7162;gnomADv4_1_nhomalt_joint_XY=6274;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29762362 chr22_29762362_C_T C T 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.584;CADD_Rawscore=0.102372;CSQ=T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+4510G>A|||||||rs131286||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29762362C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs131286|3503|1||RFAM||||||||||Ensembl||C|C||||chr22:g.29762362C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+4587G>A|||||||rs131286||-1||HGNC|HGNC:28046|2||||||||Ensembl||C|C||||chr22:g.29762362C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA||||||||||rs131286|4729|-1||||||||||||Ensembl||C|C||||chr22:g.29762362C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+4510G>A|||||||rs131286||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29762362C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+4587G>A|||||||rs131286||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29762362C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-143+4510G>A|||||||rs131286||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29762362C>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|-18|26|17|6;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T;VEP_Feature=ENST00000344318,ENST00000364106,ENST00000489010,ENST00000668996,NM_001003692.2,NM_001318129.2,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100319,ENSG00000200976,ENSG00000100319,ENSG00000287967,55954,55954,55954;VEP_SYMBOL=ZMAT5,Y_RNA,ZMAT5,.,ZMAT5,ZMAT5,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=63590;gnomADv4_1_AC_joint_XX=33171;gnomADv4_1_AC_joint_XY=30419;gnomADv4_1_AF_grpmax_joint=0.604391;gnomADv4_1_AF_joint=0.417888;gnomADv4_1_AF_joint_XX=0.426538;gnomADv4_1_AF_joint_XY=0.408847;gnomADv4_1_AN_grpmax_joint=5192;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13923;gnomADv4_1_nhomalt_joint_XX=7424;gnomADv4_1_nhomalt_joint_XY=6499;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29762474 chr22_29762474_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=3.427;CADD_Rawscore=0.31412;CSQ=T|upstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||||||||||rs131287|4895|1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||C|C||||chr22:g.29762474C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+4398G>A|||||||rs131287||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29762474C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs131287|3615|1||RFAM||||||||||Ensembl||C|C||||chr22:g.29762474C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||||||||||rs131287|4900|1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl||C|C||||chr22:g.29762474C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+4475G>A|||||||rs131287||-1||HGNC|HGNC:28046|2||||||||Ensembl||C|C||||chr22:g.29762474C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA||||||||||rs131287|4617|-1||||||||||||Ensembl||C|C||||chr22:g.29762474C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||||||||||rs131287|4895|1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||C|C||||chr22:g.29762474C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+4398G>A|||||||rs131287||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29762474C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+4475G>A|||||||rs131287||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29762474C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||||||||||rs131287|4895|1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||C|C||||chr22:g.29762474C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-143+4398G>A|||||||rs131287||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29762474C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8TLWN|enhancer||||||||||rs131287|||||||||||||||||||||chr22:g.29762474C>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|-2|16|-5|0;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000330029,ENST00000344318,ENST00000364106,ENST00000401406,ENST00000489010,ENST00000668996,NM_001003684.2,NM_001003692.2,NM_001318129.2,NM_013387.4,NM_019103.3,ENSR22_8TLWN;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000184076,ENSG00000100319,ENSG00000200976,ENSG00000184076,ENSG00000100319,ENSG00000287967,29796,55954,55954,29796,55954,.;VEP_SYMBOL=UQCR10,ZMAT5,Y_RNA,UQCR10,ZMAT5,.,UQCR10,ZMAT5,ZMAT5,UQCR10,ZMAT5,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80063;gnomADv4_1_AC_joint_XX=41637;gnomADv4_1_AC_joint_XY=38426;gnomADv4_1_AF_grpmax_joint=0.621429;gnomADv4_1_AF_joint=0.526509;gnomADv4_1_AF_joint_XX=0.535676;gnomADv4_1_AF_joint_XY=0.516923;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21412;gnomADv4_1_nhomalt_joint_XX=11304;gnomADv4_1_nhomalt_joint_XY=10108;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29763292 chr22_29763292_CAATAAATA_C;chr22_29763292_C_CAATAAATAAATAAATAAATA;chr22_29763292_C_CAATAAATAAATA;chr22_29763292_C_CAATAAATAAATAAATA CAATAAATA C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.614;CADDIndel_Rawscore=-0.141666;CSQ=-|upstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||||||||||rs201954354|4069|1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||AATAAATA|AATAAATA||||chr22:g.29763314_29763321del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+3572_-28+3579del|||||||rs201954354||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||AATAAATA|AATAAATA||||chr22:g.29763314_29763321del|||||||||||||,-|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs201954354|4434|1||RFAM||||||||||Ensembl||AATAAATA|AATAAATA||||chr22:g.29763314_29763321del|||||||||||||,-|upstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||||||||||rs201954354|4074|1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl||AATAAATA|AATAAATA||||chr22:g.29763314_29763321del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+3649_63+3656del|||||||rs201954354||-1||HGNC|HGNC:28046|2||||||||Ensembl||AATAAATA|AATAAATA||||chr22:g.29763314_29763321del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA||||||||||rs201954354|3791|-1||||||||||||Ensembl||AATAAATA|AATAAATA||||chr22:g.29763314_29763321del|||||||||||||,-|upstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||||||||||rs201954354|4069|1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||AATAAATA|AATAAATA||||chr22:g.29763314_29763321del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+3572_-28+3579del|||||||rs201954354||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||AATAAATA|AATAAATA||||chr22:g.29763314_29763321del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+3649_-28+3656del|||||||rs201954354||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||AATAAATA|AATAAATA||||chr22:g.29763314_29763321del|||||||||||||,-|upstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||||||||||rs201954354|4069|1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||AATAAATA|AATAAATA||||chr22:g.29763314_29763321del|||||||||||||,-|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-143+3572_-143+3579del|||||||rs201954354||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||AATAAATA|AATAAATA||||chr22:g.29763314_29763321del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000330029,ENST00000344318,ENST00000364106,ENST00000401406,ENST00000489010,ENST00000668996,NM_001003684.2,NM_001003692.2,NM_001318129.2,NM_013387.4,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184076,ENSG00000100319,ENSG00000200976,ENSG00000184076,ENSG00000100319,ENSG00000287967,29796,55954,55954,29796,55954;VEP_SYMBOL=UQCR10,ZMAT5,Y_RNA,UQCR10,ZMAT5,.,UQCR10,ZMAT5,ZMAT5,UQCR10,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19805;gnomADv4_1_AC_joint_XX=10038;gnomADv4_1_AC_joint_XY=9767;gnomADv4_1_AF_grpmax_joint=0.240633;gnomADv4_1_AF_joint=0.140925;gnomADv4_1_AF_joint_XX=0.13796;gnomADv4_1_AF_joint_XY=0.144107;gnomADv4_1_AN_grpmax_joint=4484;gnomADv4_1_AN_joint=140536;gnomADv4_1_AN_joint_XX=72760;gnomADv4_1_AN_joint_XY=67776;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1493;gnomADv4_1_nhomalt_joint_XX=760;gnomADv4_1_nhomalt_joint_XY=733;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29763292 chr22_29763292_CAATAAATA_C;chr22_29763292_C_CAATAAATAAATAAATAAATA;chr22_29763292_C_CAATAAATAAATA;chr22_29763292_C_CAATAAATAAATAAATA C CAATAAATAAATAAATAAATA 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.559;CADDIndel_Rawscore=-0.16534;CSQ=AATAAATAAATAAATAAATA|upstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||||||||||rs201954354|4076|1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl|||||||chr22:g.29763302_29763321dup|||||||||||||,AATAAATAAATAAATAAATA|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+3560_-28+3579dup|||||||rs201954354||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl|||||||chr22:g.29763302_29763321dup|||||||||||||,AATAAATAAATAAATAAATA|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs201954354|4433|1||RFAM||||||||||Ensembl|||||||chr22:g.29763302_29763321dup|||||||||||||,AATAAATAAATAAATAAATA|upstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||||||||||rs201954354|4081|1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl|||||||chr22:g.29763302_29763321dup|||||||||||||,AATAAATAAATAAATAAATA|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+3637_63+3656dup|||||||rs201954354||-1||HGNC|HGNC:28046|2||||||||Ensembl|||||||chr22:g.29763302_29763321dup|||||||||||||,AATAAATAAATAAATAAATA|downstream_gene_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA||||||||||rs201954354|3798|-1||||||||||||Ensembl|||||||chr22:g.29763302_29763321dup|||||||||||||,AATAAATAAATAAATAAATA|upstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||||||||||rs201954354|4076|1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq|||||||chr22:g.29763302_29763321dup|||||||||||||,AATAAATAAATAAATAAATA|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+3560_-28+3579dup|||||||rs201954354||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq|||||||chr22:g.29763302_29763321dup|||||||||||||,AATAAATAAATAAATAAATA|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+3637_-28+3656dup|||||||rs201954354||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq|||||||chr22:g.29763302_29763321dup|||||||||||||,AATAAATAAATAAATAAATA|upstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||||||||||rs201954354|4076|1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq|||||||chr22:g.29763302_29763321dup|||||||||||||,AATAAATAAATAAATAAATA|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-143+3560_-143+3579dup|||||||rs201954354||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq|||||||chr22:g.29763302_29763321dup|||||||||||||;TYPE=INDEL;VEP_Allele=AATAAATAAATAAATAAATA,AATAAATAAATAAATAAATA,AATAAATAAATAAATAAATA,AATAAATAAATAAATAAATA,AATAAATAAATAAATAAATA,AATAAATAAATAAATAAATA,AATAAATAAATAAATAAATA,AATAAATAAATAAATAAATA,AATAAATAAATAAATAAATA,AATAAATAAATAAATAAATA,AATAAATAAATAAATAAATA;VEP_Feature=ENST00000330029,ENST00000344318,ENST00000364106,ENST00000401406,ENST00000489010,ENST00000668996,NM_001003684.2,NM_001003692.2,NM_001318129.2,NM_013387.4,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184076,ENSG00000100319,ENSG00000200976,ENSG00000184076,ENSG00000100319,ENSG00000287967,29796,55954,55954,29796,55954;VEP_SYMBOL=UQCR10,ZMAT5,Y_RNA,UQCR10,ZMAT5,.,UQCR10,ZMAT5,ZMAT5,UQCR10,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11002;gnomADv4_1_AC_joint_XX=5936;gnomADv4_1_AC_joint_XY=5066;gnomADv4_1_AF_grpmax_joint=0.111998;gnomADv4_1_AF_joint=0.0783574;gnomADv4_1_AF_joint_XX=0.0816551;gnomADv4_1_AF_joint_XY=0.0748169;gnomADv4_1_AN_grpmax_joint=64662;gnomADv4_1_AN_joint=140408;gnomADv4_1_AN_joint_XX=72696;gnomADv4_1_AN_joint_XY=67712;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=594;gnomADv4_1_nhomalt_joint_XX=331;gnomADv4_1_nhomalt_joint_XY=263;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29763292 chr22_29763292_CAATAAATA_C;chr22_29763292_C_CAATAAATAAATAAATAAATA;chr22_29763292_C_CAATAAATAAATA;chr22_29763292_C_CAATAAATAAATAAATA C CAATAAATAAATA 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.649;CADDIndel_Rawscore=-0.128095;CSQ=AATAAATAAATA|upstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||||||||||rs201954354|4076|1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl|||||||chr22:g.29763310_29763321dup|||||||||||||,AATAAATAAATA|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+3568_-28+3579dup|||||||rs201954354||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl|||||||chr22:g.29763310_29763321dup|||||||||||||,AATAAATAAATA|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs201954354|4433|1||RFAM||||||||||Ensembl|||||||chr22:g.29763310_29763321dup|||||||||||||,AATAAATAAATA|upstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||||||||||rs201954354|4081|1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl|||||||chr22:g.29763310_29763321dup|||||||||||||,AATAAATAAATA|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+3645_63+3656dup|||||||rs201954354||-1||HGNC|HGNC:28046|2||||||||Ensembl|||||||chr22:g.29763310_29763321dup|||||||||||||,AATAAATAAATA|downstream_gene_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA||||||||||rs201954354|3798|-1||||||||||||Ensembl|||||||chr22:g.29763310_29763321dup|||||||||||||,AATAAATAAATA|upstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||||||||||rs201954354|4076|1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq|||||||chr22:g.29763310_29763321dup|||||||||||||,AATAAATAAATA|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+3568_-28+3579dup|||||||rs201954354||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq|||||||chr22:g.29763310_29763321dup|||||||||||||,AATAAATAAATA|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+3645_-28+3656dup|||||||rs201954354||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq|||||||chr22:g.29763310_29763321dup|||||||||||||,AATAAATAAATA|upstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||||||||||rs201954354|4076|1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq|||||||chr22:g.29763310_29763321dup|||||||||||||,AATAAATAAATA|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-143+3568_-143+3579dup|||||||rs201954354||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq|||||||chr22:g.29763310_29763321dup|||||||||||||;TYPE=INDEL;VEP_Allele=AATAAATAAATA,AATAAATAAATA,AATAAATAAATA,AATAAATAAATA,AATAAATAAATA,AATAAATAAATA,AATAAATAAATA,AATAAATAAATA,AATAAATAAATA,AATAAATAAATA,AATAAATAAATA;VEP_Feature=ENST00000330029,ENST00000344318,ENST00000364106,ENST00000401406,ENST00000489010,ENST00000668996,NM_001003684.2,NM_001003692.2,NM_001318129.2,NM_013387.4,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184076,ENSG00000100319,ENSG00000200976,ENSG00000184076,ENSG00000100319,ENSG00000287967,29796,55954,55954,29796,55954;VEP_SYMBOL=UQCR10,ZMAT5,Y_RNA,UQCR10,ZMAT5,.,UQCR10,ZMAT5,ZMAT5,UQCR10,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11346;gnomADv4_1_AC_joint_XX=6191;gnomADv4_1_AC_joint_XY=5155;gnomADv4_1_AF_grpmax_joint=0.0995856;gnomADv4_1_AF_joint=0.0807544;gnomADv4_1_AF_joint_XX=0.085109;gnomADv4_1_AF_joint_XY=0.0760796;gnomADv4_1_AN_grpmax_joint=38128;gnomADv4_1_AN_joint=140500;gnomADv4_1_AN_joint_XX=72742;gnomADv4_1_AN_joint_XY=67758;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=551;gnomADv4_1_nhomalt_joint_XX=319;gnomADv4_1_nhomalt_joint_XY=232;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29763292 chr22_29763292_CAATAAATA_C;chr22_29763292_C_CAATAAATAAATAAATAAATA;chr22_29763292_C_CAATAAATAAATA;chr22_29763292_C_CAATAAATAAATAAATA C CAATAAATAAATAAATA 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.602;CADDIndel_Rawscore=-0.146846;CSQ=AATAAATAAATAAATA|upstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||||||||||rs201954354|4076|1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl|||||||chr22:g.29763306_29763321dup|||||||||||||,AATAAATAAATAAATA|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+3564_-28+3579dup|||||||rs201954354||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl|||||||chr22:g.29763306_29763321dup|||||||||||||,AATAAATAAATAAATA|downstream_gene_variant|MODIFIER|Y_RNA|ENSG00000200976|Transcript|ENST00000364106|misc_RNA||||||||||rs201954354|4433|1||RFAM||||||||||Ensembl|||||||chr22:g.29763306_29763321dup|||||||||||||,AATAAATAAATAAATA|upstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||||||||||rs201954354|4081|1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl|||||||chr22:g.29763306_29763321dup|||||||||||||,AATAAATAAATAAATA|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+3641_63+3656dup|||||||rs201954354||-1||HGNC|HGNC:28046|2||||||||Ensembl|||||||chr22:g.29763306_29763321dup|||||||||||||,AATAAATAAATAAATA|downstream_gene_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA||||||||||rs201954354|3798|-1||||||||||||Ensembl|||||||chr22:g.29763306_29763321dup|||||||||||||,AATAAATAAATAAATA|upstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||||||||||rs201954354|4076|1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq|||||||chr22:g.29763306_29763321dup|||||||||||||,AATAAATAAATAAATA|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+3564_-28+3579dup|||||||rs201954354||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq|||||||chr22:g.29763306_29763321dup|||||||||||||,AATAAATAAATAAATA|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+3641_-28+3656dup|||||||rs201954354||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq|||||||chr22:g.29763306_29763321dup|||||||||||||,AATAAATAAATAAATA|upstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||||||||||rs201954354|4076|1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq|||||||chr22:g.29763306_29763321dup|||||||||||||,AATAAATAAATAAATA|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-143+3564_-143+3579dup|||||||rs201954354||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq|||||||chr22:g.29763306_29763321dup|||||||||||||;TYPE=INDEL;VEP_Allele=AATAAATAAATAAATA,AATAAATAAATAAATA,AATAAATAAATAAATA,AATAAATAAATAAATA,AATAAATAAATAAATA,AATAAATAAATAAATA,AATAAATAAATAAATA,AATAAATAAATAAATA,AATAAATAAATAAATA,AATAAATAAATAAATA,AATAAATAAATAAATA;VEP_Feature=ENST00000330029,ENST00000344318,ENST00000364106,ENST00000401406,ENST00000489010,ENST00000668996,NM_001003684.2,NM_001003692.2,NM_001318129.2,NM_013387.4,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184076,ENSG00000100319,ENSG00000200976,ENSG00000184076,ENSG00000100319,ENSG00000287967,29796,55954,55954,29796,55954;VEP_SYMBOL=UQCR10,ZMAT5,Y_RNA,UQCR10,ZMAT5,.,UQCR10,ZMAT5,ZMAT5,UQCR10,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26533;gnomADv4_1_AC_joint_XX=13991;gnomADv4_1_AC_joint_XY=12542;gnomADv4_1_AF_grpmax_joint=0.419083;gnomADv4_1_AF_joint=0.189054;gnomADv4_1_AF_joint_XX=0.192549;gnomADv4_1_AF_joint_XY=0.185302;gnomADv4_1_AN_grpmax_joint=4622;gnomADv4_1_AN_joint=140346;gnomADv4_1_AN_joint_XX=72662;gnomADv4_1_AN_joint_XY=67684;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3094;gnomADv4_1_nhomalt_joint_XX=1646;gnomADv4_1_nhomalt_joint_XY=1448;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29765144 chr22_29765144_C_G C G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.2;CADD_Rawscore=-0.426686;CSQ=G|upstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||||||||||rs131289|2225|1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||C|C||||chr22:g.29765144C>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+1728G>C|||||||rs131289||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29765144C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||||||||||rs131289|2230|1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl||C|C||||chr22:g.29765144C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+1805G>C|||||||rs131289||-1||HGNC|HGNC:28046|2||||||||Ensembl||C|C||||chr22:g.29765144C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA||||||||||rs131289|1947|-1||||||||||||Ensembl||C|C||||chr22:g.29765144C>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||||||||||rs131289|4378|-1||||||||||||Ensembl||C|C||||chr22:g.29765144C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||||||||||rs131289|2225|1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||C|C||||chr22:g.29765144C>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+1728G>C|||||||rs131289||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29765144C>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+1805G>C|||||||rs131289||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29765144C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||||||||||rs131289|2225|1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||C|C||||chr22:g.29765144C>G|||||||||||||,G|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-143+1728G>C|||||||rs131289||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29765144C>G|||||||||||||;SpliceAI=G|ZMAT5|0.00|0.00|0.00|0.00|-47|14|15|-16;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000330029,ENST00000344318,ENST00000401406,ENST00000489010,ENST00000668996,ENST00000766614,NM_001003684.2,NM_001003692.2,NM_001318129.2,NM_013387.4,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184076,ENSG00000100319,ENSG00000184076,ENSG00000100319,ENSG00000287967,ENSG00000299803,29796,55954,55954,29796,55954;VEP_SYMBOL=UQCR10,ZMAT5,UQCR10,ZMAT5,.,.,UQCR10,ZMAT5,ZMAT5,UQCR10,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40366;gnomADv4_1_AC_joint_XX=21530;gnomADv4_1_AC_joint_XY=18836;gnomADv4_1_AF_grpmax_joint=0.388688;gnomADv4_1_AF_joint=0.265482;gnomADv4_1_AF_joint_XX=0.276977;gnomADv4_1_AF_joint_XY=0.253458;gnomADv4_1_AN_grpmax_joint=67962;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6813;gnomADv4_1_nhomalt_joint_XX=3784;gnomADv4_1_nhomalt_joint_XY=3029;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29765291 chr22_29765291_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=2.317;CADD_Rawscore=0.203119;CSQ=T|upstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||||||||||rs9614046|2078|1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||C|C||||chr22:g.29765291C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||1/5|ENST00000344318.4:c.-28+1581G>A|||||||rs9614046||-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29765291C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||||||||||rs9614046|2083|1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl||C|C||||chr22:g.29765291C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||1/1|ENST00000489010.1:n.63+1658G>A|||||||rs9614046||-1||HGNC|HGNC:28046|2||||||||Ensembl||C|C||||chr22:g.29765291C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA||||||||||rs9614046|1800|-1||||||||||||Ensembl||C|C||||chr22:g.29765291C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||||||||||rs9614046|4231|-1||||||||||||Ensembl||C|C||||chr22:g.29765291C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||||||||||rs9614046|2078|1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||C|C||||chr22:g.29765291C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||1/5|NM_001003692.2:c.-28+1581G>A|||||||rs9614046||-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29765291C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||1/5|NM_001318129.2:c.-28+1658G>A|||||||rs9614046||-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29765291C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||||||||||rs9614046|2078|1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||C|C||||chr22:g.29765291C>T|||||||||||||,T|intron_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||1/6|NM_019103.3:c.-143+1581G>A|||||||rs9614046||-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29765291C>T|||||||||||||;SpliceAI=T|ZMAT5|0.00|0.00|0.00|0.00|-37|26|-2|-26;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000330029,ENST00000344318,ENST00000401406,ENST00000489010,ENST00000668996,ENST00000766614,NM_001003684.2,NM_001003692.2,NM_001318129.2,NM_013387.4,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184076,ENSG00000100319,ENSG00000184076,ENSG00000100319,ENSG00000287967,ENSG00000299803,29796,55954,55954,29796,55954;VEP_SYMBOL=UQCR10,ZMAT5,UQCR10,ZMAT5,.,.,UQCR10,ZMAT5,ZMAT5,UQCR10,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20117;gnomADv4_1_AC_joint_XX=10133;gnomADv4_1_AC_joint_XY=9984;gnomADv4_1_AF_grpmax_joint=0.235896;gnomADv4_1_AF_joint=0.13271;gnomADv4_1_AF_joint_XX=0.13056;gnomADv4_1_AF_joint_XY=0.134966;gnomADv4_1_AN_grpmax_joint=4786;gnomADv4_1_AN_joint=151586;gnomADv4_1_AN_joint_XX=77612;gnomADv4_1_AN_joint_XY=73974;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1487;gnomADv4_1_nhomalt_joint_XX=750;gnomADv4_1_nhomalt_joint_XY=737;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29767343 chr22_29767343_G_A G A 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=5.979;CADD_Rawscore=0.551075;CSQ=A|upstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||||||||||rs140134|26|1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||G|G||||chr22:g.29767343G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||||||||||rs140134|336|-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29767343G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||||||||||rs140134|31|1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl||G|G||||chr22:g.29767343G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||||||||||rs140134|332|-1||HGNC|HGNC:28046|2||||||||Ensembl||G|G||||chr22:g.29767343G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA|2/3||ENST00000668996.1:n.624C>T||624|||||rs140134||-1||||||||||||Ensembl||G|G||||chr22:g.29767343G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||||||||||rs140134|2179|-1||||||||||||Ensembl||G|G||||chr22:g.29767343G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||||||||||rs140134|26|1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||G|G||||chr22:g.29767343G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||||||||||rs140134|336|-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29767343G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||||||||||rs140134|336|-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29767343G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||||||||||rs140134|26|1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||G|G||||chr22:g.29767343G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||||||||||rs140134|336|-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29767343G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FS27|promoter||||||||||rs140134|||||||||||||||||||||chr22:g.29767343G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000330029,ENST00000344318,ENST00000401406,ENST00000489010,ENST00000668996,ENST00000766614,NM_001003684.2,NM_001003692.2,NM_001318129.2,NM_013387.4,NM_019103.3,ENSR22_9FS27;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000184076,ENSG00000100319,ENSG00000184076,ENSG00000100319,ENSG00000287967,ENSG00000299803,29796,55954,55954,29796,55954,.;VEP_SYMBOL=UQCR10,ZMAT5,UQCR10,ZMAT5,.,.,UQCR10,ZMAT5,ZMAT5,UQCR10,ZMAT5,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=827727;gnomADv4_1_AC_joint_XX=424360;gnomADv4_1_AC_joint_XY=403367;gnomADv4_1_AF_grpmax_joint=0.710982;gnomADv4_1_AF_joint=0.525823;gnomADv4_1_AF_joint_XX=0.534072;gnomADv4_1_AF_joint_XY=0.517414;gnomADv4_1_AN_grpmax_joint=44326;gnomADv4_1_AN_joint=1574156;gnomADv4_1_AN_joint_XX=794574;gnomADv4_1_AN_joint_XY=779582;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=223144;gnomADv4_1_nhomalt_joint_XX=115289;gnomADv4_1_nhomalt_joint_XY=107855;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29767846 chr22_29767846_C_G C G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=8.734;CADD_Rawscore=0.846763;CSQ=G|intron_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||1/1|ENST00000330029.6:c.150+298C>G|||||||rs140135||1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||C|C||||chr22:g.29767846C>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||||||||||rs140135|839|-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||C|C||||chr22:g.29767846C>G|||1||||||||||,G|intron_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||1/1|ENST00000401406.3:c.*20+239C>G|||||||rs140135||1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl||C|C||||chr22:g.29767846C>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||||||||||rs140135|835|-1||HGNC|HGNC:28046|2||||||||Ensembl||C|C||||chr22:g.29767846C>G|||1||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA|1/3||ENST00000668996.1:n.251G>C||251|||||rs140135||-1||||||||||||Ensembl||C|C||||chr22:g.29767846C>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||||||||||rs140135|1676|-1||||||||||||Ensembl||C|C||||chr22:g.29767846C>G|||1||||||||||,G|intron_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||1/1|NM_001003684.2:c.*20+239C>G|||||||rs140135||1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||C|C||||chr22:g.29767846C>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||||||||||rs140135|839|-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||C|C||||chr22:g.29767846C>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||||||||||rs140135|839|-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||C|C||||chr22:g.29767846C>G|||1||||||||||,G|intron_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||1/1|NM_013387.4:c.150+298C>G|||||||rs140135||1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||C|C||||chr22:g.29767846C>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||||||||||rs140135|839|-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||C|C||||chr22:g.29767846C>G|||1||||||||||;SpliceAI=G|UQCR10|0.00|0.00|0.00|0.00|0|-41|-1|17;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000330029,ENST00000344318,ENST00000401406,ENST00000489010,ENST00000668996,ENST00000766614,NM_001003684.2,NM_001003692.2,NM_001318129.2,NM_013387.4,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184076,ENSG00000100319,ENSG00000184076,ENSG00000100319,ENSG00000287967,ENSG00000299803,29796,55954,55954,29796,55954;VEP_SYMBOL=UQCR10,ZMAT5,UQCR10,ZMAT5,.,.,UQCR10,ZMAT5,ZMAT5,UQCR10,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=120521;gnomADv4_1_AC_joint_XX=61888;gnomADv4_1_AC_joint_XY=58633;gnomADv4_1_AF_grpmax_joint=0.940251;gnomADv4_1_AF_joint=0.79212;gnomADv4_1_AF_joint_XX=0.795619;gnomADv4_1_AF_joint_XY=0.788459;gnomADv4_1_AN_grpmax_joint=41524;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=48447;gnomADv4_1_nhomalt_joint_XX=25027;gnomADv4_1_nhomalt_joint_XY=23420;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29768627 chr22_29768627_G_T G T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.801;CADD_Rawscore=-0.074824;CSQ=T|intron_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||1/1|ENST00000330029.6:c.151-1051G>T|||||||rs140136||1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||G|G||||chr22:g.29768627G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||||||||||rs140136|1620|-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29768627G>T|||||||||||||,T|intron_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||1/1|ENST00000401406.3:c.*20+1020G>T|||||||rs140136||1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl||G|G||||chr22:g.29768627G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||||||||||rs140136|1616|-1||HGNC|HGNC:28046|2||||||||Ensembl||G|G||||chr22:g.29768627G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA||||||||||rs140136|531|-1||||||||||||Ensembl||G|G||||chr22:g.29768627G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||||||||||rs140136|895|-1||||||||||||Ensembl||G|G||||chr22:g.29768627G>T|||||||||||||,T|intron_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||1/1|NM_001003684.2:c.*20+1020G>T|||||||rs140136||1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||G|G||||chr22:g.29768627G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||||||||||rs140136|1620|-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29768627G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||||||||||rs140136|1620|-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29768627G>T|||||||||||||,T|intron_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||1/1|NM_013387.4:c.151-1051G>T|||||||rs140136||1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||G|G||||chr22:g.29768627G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||||||||||rs140136|1620|-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29768627G>T|||||||||||||;SpliceAI=T|UQCR10|0.00|0.00|0.00|0.00|6|25|5|-43;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000330029,ENST00000344318,ENST00000401406,ENST00000489010,ENST00000668996,ENST00000766614,NM_001003684.2,NM_001003692.2,NM_001318129.2,NM_013387.4,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184076,ENSG00000100319,ENSG00000184076,ENSG00000100319,ENSG00000287967,ENSG00000299803,29796,55954,55954,29796,55954;VEP_SYMBOL=UQCR10,ZMAT5,UQCR10,ZMAT5,.,.,UQCR10,ZMAT5,ZMAT5,UQCR10,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69274;gnomADv4_1_AC_joint_XX=36293;gnomADv4_1_AC_joint_XY=32981;gnomADv4_1_AF_grpmax_joint=0.618246;gnomADv4_1_AF_joint=0.501477;gnomADv4_1_AF_joint_XX=0.51163;gnomADv4_1_AF_joint_XY=0.490759;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=138140;gnomADv4_1_AN_joint_XX=70936;gnomADv4_1_AN_joint_XY=67204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16330;gnomADv4_1_nhomalt_joint_XX=8747;gnomADv4_1_nhomalt_joint_XY=7583;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29768637 chr22_29768637_G_T G T 47 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.344;CADD_Rawscore=-0.286958;CSQ=T|intron_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||1/1|ENST00000330029.6:c.151-1041G>T|||||||rs140137||1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||G|G||||chr22:g.29768637G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||||||||||rs140137|1630|-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29768637G>T|||||||||||||,T|intron_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||1/1|ENST00000401406.3:c.*20+1030G>T|||||||rs140137||1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl||G|G||||chr22:g.29768637G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||||||||||rs140137|1626|-1||HGNC|HGNC:28046|2||||||||Ensembl||G|G||||chr22:g.29768637G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA||||||||||rs140137|541|-1||||||||||||Ensembl||G|G||||chr22:g.29768637G>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||||||||||rs140137|885|-1||||||||||||Ensembl||G|G||||chr22:g.29768637G>T|||||||||||||,T|intron_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||1/1|NM_001003684.2:c.*20+1030G>T|||||||rs140137||1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||G|G||||chr22:g.29768637G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||||||||||rs140137|1630|-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29768637G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||||||||||rs140137|1630|-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29768637G>T|||||||||||||,T|intron_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||1/1|NM_013387.4:c.151-1041G>T|||||||rs140137||1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||G|G||||chr22:g.29768637G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||||||||||rs140137|1630|-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29768637G>T|||||||||||||;SpliceAI=T|UQCR10|0.00|0.00|0.00|0.00|9|15|5|34;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000330029,ENST00000344318,ENST00000401406,ENST00000489010,ENST00000668996,ENST00000766614,NM_001003684.2,NM_001003692.2,NM_001318129.2,NM_013387.4,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184076,ENSG00000100319,ENSG00000184076,ENSG00000100319,ENSG00000287967,ENSG00000299803,29796,55954,55954,29796,55954;VEP_SYMBOL=UQCR10,ZMAT5,UQCR10,ZMAT5,.,.,UQCR10,ZMAT5,ZMAT5,UQCR10,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66207;gnomADv4_1_AC_joint_XX=34432;gnomADv4_1_AC_joint_XY=31775;gnomADv4_1_AF_grpmax_joint=0.660757;gnomADv4_1_AF_joint=0.491865;gnomADv4_1_AF_joint_XX=0.500742;gnomADv4_1_AF_joint_XY=0.482595;gnomADv4_1_AN_grpmax_joint=5076;gnomADv4_1_AN_joint=134604;gnomADv4_1_AN_joint_XX=68762;gnomADv4_1_AN_joint_XY=65842;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15017;gnomADv4_1_nhomalt_joint_XX=7946;gnomADv4_1_nhomalt_joint_XY=7071;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29768639 chr22_29768639_T_G T G 43 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.045;CADD_Rawscore=-0.00632;CSQ=G|intron_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||1/1|ENST00000330029.6:c.151-1039T>G|||||||rs140138||1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||T|T||||chr22:g.29768639T>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||||||||||rs140138|1632|-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||T|T||||chr22:g.29768639T>G|||1||||||||||,G|intron_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||1/1|ENST00000401406.3:c.*20+1032T>G|||||||rs140138||1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl||T|T||||chr22:g.29768639T>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||||||||||rs140138|1628|-1||HGNC|HGNC:28046|2||||||||Ensembl||T|T||||chr22:g.29768639T>G|||1||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA||||||||||rs140138|543|-1||||||||||||Ensembl||T|T||||chr22:g.29768639T>G|||1||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||||||||||rs140138|883|-1||||||||||||Ensembl||T|T||||chr22:g.29768639T>G|||1||||||||||,G|intron_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||1/1|NM_001003684.2:c.*20+1032T>G|||||||rs140138||1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||T|T||||chr22:g.29768639T>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||||||||||rs140138|1632|-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||T|T||||chr22:g.29768639T>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||||||||||rs140138|1632|-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||T|T||||chr22:g.29768639T>G|||1||||||||||,G|intron_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||1/1|NM_013387.4:c.151-1039T>G|||||||rs140138||1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||T|T||||chr22:g.29768639T>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||||||||||rs140138|1632|-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||T|T||||chr22:g.29768639T>G|||1||||||||||;SpliceAI=G|UQCR10|0.00|0.00|0.00|0.00|13|7|32|5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000330029,ENST00000344318,ENST00000401406,ENST00000489010,ENST00000668996,ENST00000766614,NM_001003684.2,NM_001003692.2,NM_001318129.2,NM_013387.4,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184076,ENSG00000100319,ENSG00000184076,ENSG00000100319,ENSG00000287967,ENSG00000299803,29796,55954,55954,29796,55954;VEP_SYMBOL=UQCR10,ZMAT5,UQCR10,ZMAT5,.,.,UQCR10,ZMAT5,ZMAT5,UQCR10,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45877;gnomADv4_1_AC_joint_XX=23894;gnomADv4_1_AC_joint_XY=21983;gnomADv4_1_AF_grpmax_joint=0.578698;gnomADv4_1_AF_joint=0.304386;gnomADv4_1_AF_joint_XX=0.309893;gnomADv4_1_AF_joint_XY=0.298617;gnomADv4_1_AN_grpmax_joint=5070;gnomADv4_1_AN_joint=150720;gnomADv4_1_AN_joint_XX=77104;gnomADv4_1_AN_joint_XY=73616;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7918;gnomADv4_1_nhomalt_joint_XX=4238;gnomADv4_1_nhomalt_joint_XY=3680;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29769423 chr22_29769423_A_G A G 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=1.397;CADD_Rawscore=0.06935;CSQ=G|intron_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||1/1|ENST00000330029.6:c.151-255A>G|||||||rs140139||1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||A|A||||chr22:g.29769423A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||||||||||rs140139|2416|-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||A|A||||chr22:g.29769423A>G|||||||||||||,G|intron_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||1/1|ENST00000401406.3:c.*21-255A>G|||||||rs140139||1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl||A|A||||chr22:g.29769423A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||||||||||rs140139|2412|-1||HGNC|HGNC:28046|2||||||||Ensembl||A|A||||chr22:g.29769423A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA||||||||||rs140139|1327|-1||||||||||||Ensembl||A|A||||chr22:g.29769423A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||||||||||rs140139|99|-1||||||||||||Ensembl||A|A||||chr22:g.29769423A>G|||||||||||||,G|intron_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||1/1|NM_001003684.2:c.*21-255A>G|||||||rs140139||1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||A|A||||chr22:g.29769423A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||||||||||rs140139|2416|-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||A|A||||chr22:g.29769423A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||||||||||rs140139|2416|-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||A|A||||chr22:g.29769423A>G|||||||||||||,G|intron_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||1/1|NM_013387.4:c.151-255A>G|||||||rs140139||1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||A|A||||chr22:g.29769423A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||||||||||rs140139|2416|-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||A|A||||chr22:g.29769423A>G|||||||||||||;SpliceAI=G|UQCR10|0.00|0.00|0.00|0.00|1|-39|9|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000330029,ENST00000344318,ENST00000401406,ENST00000489010,ENST00000668996,ENST00000766614,NM_001003684.2,NM_001003692.2,NM_001318129.2,NM_013387.4,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184076,ENSG00000100319,ENSG00000184076,ENSG00000100319,ENSG00000287967,ENSG00000299803,29796,55954,55954,29796,55954;VEP_SYMBOL=UQCR10,ZMAT5,UQCR10,ZMAT5,.,.,UQCR10,ZMAT5,ZMAT5,UQCR10,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=83528;gnomADv4_1_AC_joint_XX=43414;gnomADv4_1_AC_joint_XY=40114;gnomADv4_1_AF_grpmax_joint=0.66602;gnomADv4_1_AF_joint=0.549982;gnomADv4_1_AF_joint_XX=0.558926;gnomADv4_1_AF_joint_XY=0.54062;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151874;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74200;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23540;gnomADv4_1_nhomalt_joint_XX=12413;gnomADv4_1_nhomalt_joint_XY=11127;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29770448 chr22_29770448_G_A G A 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.284;CADD_Rawscore=0.199336;CSQ=A|downstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||||||||||rs140140|35|1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||G|G||||chr22:g.29770448G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000344318|protein_coding||||||||||rs140140|3441|-1||HGNC|HGNC:28046|1|CCDS13868.1|ENSP00000344241|Q9UDW3.164||UPI0000072567|||Ensembl||G|G||||chr22:g.29770448G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||||||||||rs140140|421|1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl||G|G||||chr22:g.29770448G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZMAT5|ENSG00000100319|Transcript|ENST00000489010|retained_intron||||||||||rs140140|3437|-1||HGNC|HGNC:28046|2||||||||Ensembl||G|G||||chr22:g.29770448G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA||||||||||rs140140|2352|-1||||||||||||Ensembl||G|G||||chr22:g.29770448G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||1/1|ENST00000766614.1:n.89-611C>T|||||||rs140140||-1||||||||||||Ensembl||G|G||||chr22:g.29770448G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||||||||||rs140140|35|1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||G|G||||chr22:g.29770448G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001003692.2|protein_coding||||||||||rs140140|3441|-1||EntrezGene|HGNC:28046|||NP_001003692.1||||||RefSeq||G|G||||chr22:g.29770448G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_001318129.2|protein_coding||||||||||rs140140|3441|-1||EntrezGene|HGNC:28046|||NP_001305058.1||||||RefSeq||G|G||||chr22:g.29770448G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||||||||||rs140140|35|1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||G|G||||chr22:g.29770448G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZMAT5|55954|Transcript|NM_019103.3|protein_coding||||||||||rs140140|3441|-1||EntrezGene|HGNC:28046|||NP_061976.1||||||RefSeq||G|G||||chr22:g.29770448G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000330029,ENST00000344318,ENST00000401406,ENST00000489010,ENST00000668996,ENST00000766614,NM_001003684.2,NM_001003692.2,NM_001318129.2,NM_013387.4,NM_019103.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184076,ENSG00000100319,ENSG00000184076,ENSG00000100319,ENSG00000287967,ENSG00000299803,29796,55954,55954,29796,55954;VEP_SYMBOL=UQCR10,ZMAT5,UQCR10,ZMAT5,.,.,UQCR10,ZMAT5,ZMAT5,UQCR10,ZMAT5;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91026;gnomADv4_1_AC_joint_XX=47034;gnomADv4_1_AC_joint_XY=43992;gnomADv4_1_AF_grpmax_joint=0.664425;gnomADv4_1_AF_joint=0.542293;gnomADv4_1_AF_joint_XX=0.551667;gnomADv4_1_AF_joint_XY=0.532617;gnomADv4_1_AN_grpmax_joint=6246;gnomADv4_1_AN_joint=167854;gnomADv4_1_AN_joint_XX=85258;gnomADv4_1_AN_joint_XY=82596;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=25504;gnomADv4_1_nhomalt_joint_XX=13338;gnomADv4_1_nhomalt_joint_XY=12166;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29772244 chr22_29772244_CA_C;chr22_29772244_C_CA CA C 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADDIndel_PHREDscore=0.781;CADDIndel_Rawscore=-0.081271;CSQ=-|downstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||||||||||rs368629222|1832|1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||A|A||||chr22:g.29772261del|||||||||||||,-|downstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||||||||||rs368629222|2218|1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl||A|A||||chr22:g.29772261del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA||||||||||rs368629222|4149|-1||||||||||||Ensembl||A|A||||chr22:g.29772261del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||1/1|ENST00000766614.1:n.89-2408del|||||||rs368629222||-1||||||||||||Ensembl||A|A||||chr22:g.29772261del|||||||||||||,-|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||||||||||rs368629222|1832|1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||A|A||||chr22:g.29772261del|||||||||||||,-|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||||||||||rs368629222|1832|1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||A|A||||chr22:g.29772261del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FS3P|enhancer||||||||||rs368629222|||||||||||||||||||||chr22:g.29772261del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000330029,ENST00000401406,ENST00000668996,ENST00000766614,NM_001003684.2,NM_013387.4,ENSR22_9FS3P;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000184076,ENSG00000184076,ENSG00000287967,ENSG00000299803,29796,29796,.;VEP_SYMBOL=UQCR10,UQCR10,.,.,UQCR10,UQCR10,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50694;gnomADv4_1_AC_joint_XX=26986;gnomADv4_1_AC_joint_XY=23708;gnomADv4_1_AF_grpmax_joint=0.434304;gnomADv4_1_AF_joint=0.418226;gnomADv4_1_AF_joint_XX=0.422899;gnomADv4_1_AF_joint_XY=0.413031;gnomADv4_1_AN_grpmax_joint=58710;gnomADv4_1_AN_joint=121212;gnomADv4_1_AN_joint_XX=63812;gnomADv4_1_AN_joint_XY=57400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9125;gnomADv4_1_nhomalt_joint_XX=4988;gnomADv4_1_nhomalt_joint_XY=4137;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29772244 chr22_29772244_CA_C;chr22_29772244_C_CA C CA 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=31;CADDIndel_PHREDscore=0.962;CADDIndel_Rawscore=-0.027923;CSQ=A|downstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||||||||||rs368629222|1831|1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl|||||||chr22:g.29772261dup|||||||||||||,A|downstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||||||||||rs368629222|2217|1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl|||||||chr22:g.29772261dup|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA||||||||||rs368629222|4148|-1||||||||||||Ensembl|||||||chr22:g.29772261dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||1/1|ENST00000766614.1:n.89-2408dup|||||||rs368629222||-1||||||||||||Ensembl|||||||chr22:g.29772261dup|||||||||||||,A|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||||||||||rs368629222|1831|1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq|||||||chr22:g.29772261dup|||||||||||||,A|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||||||||||rs368629222|1831|1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq|||||||chr22:g.29772261dup|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FS3P|enhancer||||||||||rs368629222|||||||||||||||||||||chr22:g.29772261dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A;VEP_Feature=ENST00000330029,ENST00000401406,ENST00000668996,ENST00000766614,NM_001003684.2,NM_013387.4,ENSR22_9FS3P;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000184076,ENSG00000184076,ENSG00000287967,ENSG00000299803,29796,29796,.;VEP_SYMBOL=UQCR10,UQCR10,.,.,UQCR10,UQCR10,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19166;gnomADv4_1_AC_joint_XX=10047;gnomADv4_1_AC_joint_XY=9119;gnomADv4_1_AF_grpmax_joint=0.279428;gnomADv4_1_AF_joint=0.157937;gnomADv4_1_AF_joint_XX=0.157279;gnomADv4_1_AF_joint_XY=0.158669;gnomADv4_1_AN_grpmax_joint=3636;gnomADv4_1_AN_joint=121352;gnomADv4_1_AN_joint_XX=63880;gnomADv4_1_AN_joint_XY=57472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1530;gnomADv4_1_nhomalt_joint_XX=834;gnomADv4_1_nhomalt_joint_XY=696;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29773090 chr22_29773090_T_C T C 49 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.622;CADD_Rawscore=0.108591;CSQ=C|downstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||||||||||rs140142|2677|1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||T|T||||chr22:g.29773090T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||||||||||rs140142|3063|1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl||T|T||||chr22:g.29773090T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000287967|Transcript|ENST00000668996|lncRNA||||||||||rs140142|4994|-1||||||||||||Ensembl||T|T||||chr22:g.29773090T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||1/1|ENST00000766614.1:n.89-3253A>G|||||||rs140142||-1||||||||||||Ensembl||T|T||||chr22:g.29773090T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||||||||||rs140142|2677|1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||T|T||||chr22:g.29773090T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||||||||||rs140142|2677|1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||T|T||||chr22:g.29773090T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C;VEP_Feature=ENST00000330029,ENST00000401406,ENST00000668996,ENST00000766614,NM_001003684.2,NM_013387.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184076,ENSG00000184076,ENSG00000287967,ENSG00000299803,29796,29796;VEP_SYMBOL=UQCR10,UQCR10,.,.,UQCR10,UQCR10;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=114613;gnomADv4_1_AC_joint_XX=59645;gnomADv4_1_AC_joint_XY=54968;gnomADv4_1_AF_grpmax_joint=0.949893;gnomADv4_1_AF_joint=0.799165;gnomADv4_1_AF_joint_XX=0.799402;gnomADv4_1_AF_joint_XY=0.798907;gnomADv4_1_AN_grpmax_joint=38458;gnomADv4_1_AN_joint=143416;gnomADv4_1_AN_joint_XX=74612;gnomADv4_1_AN_joint_XY=68804;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=46194;gnomADv4_1_nhomalt_joint_XX=24172;gnomADv4_1_nhomalt_joint_XY=22022;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29773120 chr22_29773120_CA_C CA C 17 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=17;CADDIndel_PHREDscore=0.224;CADDIndel_Rawscore=-0.397237;CSQ=-|downstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||||||||||rs131290|2708|1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||A|A||||chr22:g.29773144del|||||||||||||,-|downstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||||||||||rs131290|3094|1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl||A|A||||chr22:g.29773144del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||1/1|ENST00000766614.1:n.89-3284del|||||||rs131290||-1||||||||||||Ensembl||A|A||||chr22:g.29773144del|||||||||||||,-|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||||||||||rs131290|2708|1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||A|A||||chr22:g.29773144del|||||||||||||,-|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||||||||||rs131290|2708|1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||A|A||||chr22:g.29773144del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000330029,ENST00000401406,ENST00000766614,NM_001003684.2,NM_013387.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184076,ENSG00000184076,ENSG00000299803,29796,29796;VEP_SYMBOL=UQCR10,UQCR10,.,UQCR10,UQCR10;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=19968;gnomADv4_1_AC_joint_XX=11301;gnomADv4_1_AC_joint_XY=8667;gnomADv4_1_AF_grpmax_joint=0.397537;gnomADv4_1_AF_joint=0.322627;gnomADv4_1_AF_joint_XX=0.331894;gnomADv4_1_AF_joint_XY=0.311292;gnomADv4_1_AN_grpmax_joint=2274;gnomADv4_1_AN_joint=61892;gnomADv4_1_AN_joint_XX=34050;gnomADv4_1_AN_joint_XY=27842;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=470;gnomADv4_1_nhomalt_joint_XX=239;gnomADv4_1_nhomalt_joint_XY=231;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29773447 chr22_29773447_G_A G A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.569;CADD_Rawscore=0.099898;CSQ=A|downstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||||||||||rs131291|3034|1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||G|G||||chr22:g.29773447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||||||||||rs131291|3420|1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl||G|G||||chr22:g.29773447G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||1/1|ENST00000766614.1:n.89-3610C>T|||||||rs131291||-1||||||||||||Ensembl||G|G||||chr22:g.29773447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||||||||||rs131291|3034|1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||G|G||||chr22:g.29773447G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||||||||||rs131291|3034|1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||G|G||||chr22:g.29773447G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FS3Z|enhancer||||||||||rs131291|||||||||||||||||||||chr22:g.29773447G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A;VEP_Feature=ENST00000330029,ENST00000401406,ENST00000766614,NM_001003684.2,NM_013387.4,ENSR22_9FS3Z;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000184076,ENSG00000184076,ENSG00000299803,29796,29796,.;VEP_SYMBOL=UQCR10,UQCR10,.,UQCR10,UQCR10,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=116580;gnomADv4_1_AC_joint_XX=59785;gnomADv4_1_AC_joint_XY=56795;gnomADv4_1_AF_grpmax_joint=0.914341;gnomADv4_1_AF_joint=0.766742;gnomADv4_1_AF_joint_XX=0.769097;gnomADv4_1_AF_joint_XY=0.764278;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=45326;gnomADv4_1_nhomalt_joint_XX=23363;gnomADv4_1_nhomalt_joint_XY=21963;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29774089 chr22_29774089_CT_C CT C 40 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=40;CADDIndel_PHREDscore=0.258;CADDIndel_Rawscore=-0.360957;CSQ=-|downstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||||||||||rs131292|3677|1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||T|T||||chr22:g.29774105del|||||||||||||,-|downstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000401406|protein_coding||||||||||rs131292|4063|1||HGNC|HGNC:30863|1|CCDS46681.1|ENSP00000384962|Q9UDW1.184||UPI00002074C8|Q9UDW1-2||Ensembl||T|T||||chr22:g.29774105del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||1/1|ENST00000766614.1:n.89-4253del|||||||rs131292||-1||||||||||||Ensembl||T|T||||chr22:g.29774105del|||||||||||||,-|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||||||||||rs131292|3677|1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||T|T||||chr22:g.29774105del|||||||||||||,-|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||||||||||rs131292|3677|1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||T|T||||chr22:g.29774105del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-;VEP_Feature=ENST00000330029,ENST00000401406,ENST00000766614,NM_001003684.2,NM_013387.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184076,ENSG00000184076,ENSG00000299803,29796,29796;VEP_SYMBOL=UQCR10,UQCR10,.,UQCR10,UQCR10;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=34807;gnomADv4_1_AC_joint_XX=19866;gnomADv4_1_AC_joint_XY=14941;gnomADv4_1_AF_grpmax_joint=0.721526;gnomADv4_1_AF_joint=0.50385;gnomADv4_1_AF_joint_XX=0.50842;gnomADv4_1_AF_joint_XY=0.497901;gnomADv4_1_AN_grpmax_joint=1914;gnomADv4_1_AN_joint=69082;gnomADv4_1_AN_joint_XX=39074;gnomADv4_1_AN_joint_XY=30008;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6067;gnomADv4_1_nhomalt_joint_XX=3494;gnomADv4_1_nhomalt_joint_XY=2573;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29775042 chr22_29775042_T_G T G 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=2.426;CADD_Rawscore=0.215509;CSQ=G|downstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||||||||||rs131293|4629|1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||T|T||||chr22:g.29775042T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||1/1|ENST00000766614.1:n.89-5205A>C|||||||rs131293||-1||||||||||||Ensembl||T|T||||chr22:g.29775042T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||||||||||rs131293|4629|1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||T|T||||chr22:g.29775042T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||||||||||rs131293|4629|1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||T|T||||chr22:g.29775042T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000330029,ENST00000766614,NM_001003684.2,NM_013387.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184076,ENSG00000299803,29796,29796;VEP_SYMBOL=UQCR10,.,UQCR10,UQCR10;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=46960;gnomADv4_1_AC_joint_XX=24466;gnomADv4_1_AC_joint_XY=22494;gnomADv4_1_AF_grpmax_joint=0.585218;gnomADv4_1_AF_joint=0.315172;gnomADv4_1_AF_joint_XX=0.321009;gnomADv4_1_AF_joint_XY=0.30906;gnomADv4_1_AN_grpmax_joint=5128;gnomADv4_1_AN_joint=148998;gnomADv4_1_AN_joint_XX=76216;gnomADv4_1_AN_joint_XY=72782;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8518;gnomADv4_1_nhomalt_joint_XX=4556;gnomADv4_1_nhomalt_joint_XY=3962;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29775282 chr22_29775282_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.324;CADD_Rawscore=-0.302767;CSQ=G|downstream_gene_variant|MODIFIER|UQCR10|ENSG00000184076|Transcript|ENST00000330029|protein_coding||||||||||rs131294|4869|1||HGNC|HGNC:30863|1|CCDS46680.1|ENSP00000332887|Q9UDW1.184||UPI0000169236|Q9UDW1-1||Ensembl||A|A||||chr22:g.29775282A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||1/1|ENST00000766614.1:n.89-5445T>C|||||||rs131294||-1||||||||||||Ensembl||A|A||||chr22:g.29775282A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_001003684.2|protein_coding||||||||||rs131294|4869|1||EntrezGene|HGNC:30863|||NP_001003684.1||||||RefSeq||A|A||||chr22:g.29775282A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|UQCR10|29796|Transcript|NM_013387.4|protein_coding||||||||||rs131294|4869|1||EntrezGene|HGNC:30863|||NP_037519.2||||||RefSeq||A|A||||chr22:g.29775282A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G;VEP_Feature=ENST00000330029,ENST00000766614,NM_001003684.2,NM_013387.4;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000184076,ENSG00000299803,29796,29796;VEP_SYMBOL=UQCR10,.,UQCR10,UQCR10;VEP_existing_InFrame_oORFs=.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.;VEP_existing_uORFs=.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.;gnomADv4_1_AC_joint=118727;gnomADv4_1_AC_joint_XX=60925;gnomADv4_1_AC_joint_XY=57802;gnomADv4_1_AF_grpmax_joint=0.91438;gnomADv4_1_AF_joint=0.781068;gnomADv4_1_AF_joint_XX=0.783904;gnomADv4_1_AF_joint_XY=0.778101;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46866;gnomADv4_1_nhomalt_joint_XX=24175;gnomADv4_1_nhomalt_joint_XY=22691;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29777120 chr22_29777120_G_T G T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.369;CADD_Rawscore=-0.269471;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||1/1|ENST00000766614.1:n.88+4981C>A|||||||rs140143||-1||||||||||||Ensembl||G|G||||chr22:g.29777120G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000766614;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299803;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46044;gnomADv4_1_AC_joint_XX=23977;gnomADv4_1_AC_joint_XY=22067;gnomADv4_1_AF_grpmax_joint=0.585409;gnomADv4_1_AF_joint=0.303069;gnomADv4_1_AF_joint_XX=0.308743;gnomADv4_1_AF_joint_XY=0.297135;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151926;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8220;gnomADv4_1_nhomalt_joint_XX=4401;gnomADv4_1_nhomalt_joint_XY=3819;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29777713 chr22_29777713_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.946;CADD_Rawscore=-0.032277;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||1/1|ENST00000766614.1:n.88+4388G>A|||||||rs131295||-1||||||||||||Ensembl||C|C||||chr22:g.29777713C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=ENST00000766614;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299803;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=46022;gnomADv4_1_AC_joint_XX=23972;gnomADv4_1_AC_joint_XY=22050;gnomADv4_1_AF_grpmax_joint=0.584861;gnomADv4_1_AF_joint=0.303163;gnomADv4_1_AF_joint_XX=0.30875;gnomADv4_1_AF_joint_XY=0.297314;gnomADv4_1_AN_grpmax_joint=5126;gnomADv4_1_AN_joint=151806;gnomADv4_1_AN_joint_XX=77642;gnomADv4_1_AN_joint_XY=74164;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8215;gnomADv4_1_nhomalt_joint_XX=4398;gnomADv4_1_nhomalt_joint_XY=3817;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29778240 chr22_29778240_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.274;CADD_Rawscore=-0.345283;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||1/1|ENST00000766614.1:n.88+3861T>C|||||||rs131296||-1||||||||||||Ensembl||A|A||||chr22:g.29778240A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=ENST00000766614;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299803;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=116138;gnomADv4_1_AC_joint_XX=59594;gnomADv4_1_AC_joint_XY=56544;gnomADv4_1_AF_grpmax_joint=0.90407;gnomADv4_1_AF_joint=0.764086;gnomADv4_1_AF_joint_XX=0.766956;gnomADv4_1_AF_joint_XY=0.761084;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151996;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=44663;gnomADv4_1_nhomalt_joint_XX=23047;gnomADv4_1_nhomalt_joint_XY=21616;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29779479 chr22_29779479_TA_T TA T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=3.457;CADDIndel_Rawscore=0.316857;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||1/1|ENST00000766614.1:n.88+2621del|||||||rs140144||-1||||||||||||Ensembl||A|A||||chr22:g.29779489del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000766614;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299803;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=119717;gnomADv4_1_AC_joint_XX=61452;gnomADv4_1_AC_joint_XY=58265;gnomADv4_1_AF_grpmax_joint=0.92468;gnomADv4_1_AF_joint=0.787923;gnomADv4_1_AF_joint_XX=0.79101;gnomADv4_1_AF_joint_XY=0.784693;gnomADv4_1_AN_grpmax_joint=41450;gnomADv4_1_AN_joint=151940;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=47759;gnomADv4_1_nhomalt_joint_XX=24651;gnomADv4_1_nhomalt_joint_XY=23108;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29780043 chr22_29780043_C_CT C CT 16 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=16;CADDIndel_PHREDscore=0.654;CADDIndel_Rawscore=-0.12606;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||1/1|ENST00000766614.1:n.88+2057dup|||||||rs131297||-1||||||||||||Ensembl|||||||chr22:g.29780067dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=ENST00000766614;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000299803;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=30356;gnomADv4_1_AC_joint_XX=17294;gnomADv4_1_AC_joint_XY=13062;gnomADv4_1_AF_grpmax_joint=0.557573;gnomADv4_1_AF_joint=0.39011;gnomADv4_1_AF_joint_XX=0.403782;gnomADv4_1_AF_joint_XY=0.373371;gnomADv4_1_AN_grpmax_joint=2258;gnomADv4_1_AN_joint=77814;gnomADv4_1_AN_joint_XX=42830;gnomADv4_1_AN_joint_XY=34984;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7162;gnomADv4_1_nhomalt_joint_XX=4097;gnomADv4_1_nhomalt_joint_XY=3065;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29782316 chr22_29782316_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.019;CADD_Rawscore=-1.06906;CSQ=T|upstream_gene_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||||||||||rs140145|128|-1||||||||||||Ensembl||C|C||||chr22:g.29782316C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8TMC5|promoter||||||||||rs140145|||||||||||||||||||||chr22:g.29782316C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENST00000766614,ENSR22_8TMC5;VEP_Feature_type=Transcript,RegulatoryFeature;VEP_Gene=ENSG00000299803,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=46127;gnomADv4_1_AC_joint_XX=24002;gnomADv4_1_AC_joint_XY=22125;gnomADv4_1_AF_grpmax_joint=0.585986;gnomADv4_1_AF_joint=0.303272;gnomADv4_1_AF_joint_XX=0.308684;gnomADv4_1_AF_joint_XY=0.297611;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8242;gnomADv4_1_nhomalt_joint_XX=4407;gnomADv4_1_nhomalt_joint_XY=3835;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29784012 chr22_29784012_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=4.377;CADD_Rawscore=0.398861;CSQ=G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||||||||||rs131298|4599|-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||||||||||rs131298|4630|-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||||||||||rs131298|4604|-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||||||||||rs131298|4601|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||||||||||rs131298|4599|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||||||||||rs131298|4597|-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29784012A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||||||||||rs131298|1824|-1||||||||||||Ensembl||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||||||||||rs131298|4599|-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29784012A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000458594,ENST00000472433,ENST00000487486,ENST00000542393,ENST00000766614,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000299803,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84324;gnomADv4_1_AC_joint_XX=43859;gnomADv4_1_AC_joint_XY=40465;gnomADv4_1_AF_grpmax_joint=0.66712;gnomADv4_1_AF_joint=0.555121;gnomADv4_1_AF_joint_XX=0.564568;gnomADv4_1_AF_joint_XY=0.545233;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151902;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74216;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24047;gnomADv4_1_nhomalt_joint_XX=12703;gnomADv4_1_nhomalt_joint_XY=11344;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29784164 chr22_29784164_A_AT A AT 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.629;CADDIndel_Rawscore=-0.135666;CSQ=T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||||||||||rs131299|4446|-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||||||||||rs131299|4477|-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||||||||||rs131299|4451|-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||||||||||rs131299|4448|-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||||||||||rs131299|4446|-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||||||||||rs131299|4444|-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl|||||||chr22:g.29784175dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||||||||||rs131299|1976|-1||||||||||||Ensembl|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||||||||||rs131299|4446|-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq|||||||chr22:g.29784175dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000458594,ENST00000472433,ENST00000487486,ENST00000542393,ENST00000766614,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000299803,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80219;gnomADv4_1_AC_joint_XX=42086;gnomADv4_1_AC_joint_XY=38133;gnomADv4_1_AF_grpmax_joint=0.643279;gnomADv4_1_AF_joint=0.540385;gnomADv4_1_AF_joint_XX=0.551948;gnomADv4_1_AF_joint_XY=0.528173;gnomADv4_1_AN_grpmax_joint=67030;gnomADv4_1_AN_joint=148448;gnomADv4_1_AN_joint_XX=76250;gnomADv4_1_AN_joint_XY=72198;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=22626;gnomADv4_1_nhomalt_joint_XX=12110;gnomADv4_1_nhomalt_joint_XY=10516;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29785893 chr22_29785893_ACTACCAAGT_A ACTACCAAGT A 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=5.391;CADDIndel_Rawscore=0.492975;CSQ=-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||||||||||rs140146|2709|-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||||||||||rs140146|2740|-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||||||||||rs140146|2714|-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||||||||||rs140146|2711|-1||HGNC|HGNC:24103|3||||||||Ensembl||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||||||||||rs140146|2709|-1||HGNC|HGNC:24103|2||||||||Ensembl||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||||||||||rs140146|2707|-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||||||||||rs140146|3706|-1||||||||||||Ensembl||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||||||||||rs140146|2709|-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||CTACCAAGT|CTACCAAGT||||chr22:g.29785905_29785913del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000458594,ENST00000472433,ENST00000487486,ENST00000542393,ENST00000766614,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000299803,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152260;gnomADv4_1_AC_joint_XX=77822;gnomADv4_1_AC_joint_XY=74438;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999961;gnomADv4_1_AF_joint_XX=0.999974;gnomADv4_1_AF_joint_XY=0.999946;gnomADv4_1_AN_grpmax_joint=68022;gnomADv4_1_AN_joint=152266;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76127;gnomADv4_1_nhomalt_joint_XX=38910;gnomADv4_1_nhomalt_joint_XY=37217;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29786569 chr22_29786569_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.923;CADD_Rawscore=0.267065;CSQ=A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||||||||||rs7285885|2042|-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||||||||||rs7285885|2073|-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||||||||||rs7285885|2047|-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||||||||||rs7285885|2044|-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||||||||||rs7285885|2042|-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||||||||||rs7285885|2040|-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||G|G||||chr22:g.29786569G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000299803|Transcript|ENST00000766614|lncRNA||||||||||rs7285885|4381|-1||||||||||||Ensembl||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||||||||||rs7285885|2042|-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||G|G||||chr22:g.29786569G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000458594,ENST00000472433,ENST00000487486,ENST00000542393,ENST00000766614,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000299803,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19741;gnomADv4_1_AC_joint_XX=9957;gnomADv4_1_AC_joint_XY=9784;gnomADv4_1_AF_grpmax_joint=0.239212;gnomADv4_1_AF_joint=0.129875;gnomADv4_1_AF_joint_XX=0.12813;gnomADv4_1_AF_joint_XY=0.1317;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152000;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1490;gnomADv4_1_nhomalt_joint_XX=768;gnomADv4_1_nhomalt_joint_XY=722;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29788610 chr22_29788610_G_A G A 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=10.59;CADD_Rawscore=1.02286;CSQ=A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||||||||||rs140147|1|-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||||||||||rs140147|32|-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs140147|4967|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||||||||||rs140147|6|-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||||||||||rs140147|3|-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs140147|4977|-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||||||||||rs140147|1|-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29788610G>A|||1||||||||||,A|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding|19/19||ENST00000542393.5:c.*403C>T||2593|||||rs140147||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||||||||||rs140147|1|-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||G|G||||chr22:g.29788610G>A|||1||||||||||;SpliceAI=A|ASCC2|0.00|0.00|0.00|0.00|33|-1|24|16;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000472433,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61073;gnomADv4_1_AC_joint_XX=31692;gnomADv4_1_AC_joint_XY=29381;gnomADv4_1_AF_grpmax_joint=0.358792;gnomADv4_1_AF_joint=0.263627;gnomADv4_1_AF_joint_XX=0.275343;gnomADv4_1_AF_joint_XY=0.252059;gnomADv4_1_AN_grpmax_joint=115192;gnomADv4_1_AN_joint=231664;gnomADv4_1_AN_joint_XX=115100;gnomADv4_1_AN_joint_XY=116564;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10035;gnomADv4_1_nhomalt_joint_XX=5359;gnomADv4_1_nhomalt_joint_XY=4676;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29788961 chr22_29788961_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.066;CADD_Rawscore=-0.724502;CSQ=G|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding|20/20||ENST00000307790.8:c.*52T>C||2440|||||rs7954||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding|21/21||ENST00000397771.6:c.*52T>C||2504|||||rs7954||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29788961A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs7954|4616|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay|21/21||ENST00000458594.5:c.*2215T>C||2408|||||rs7954||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29788961A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.297-109T>C|||||||rs7954||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29788961A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs7954|4626|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29788961A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron|7/7||ENST00000487486.5:n.1246T>C||1246|||||rs7954||-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding|19/19||ENST00000542393.5:c.*52T>C||2242|||||rs7954||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding|19/19||NM_001242906.2:c.*52T>C||2212|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding|20/20||NM_001369920.1:c.*52T>C||2455|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding|22/22||NM_001369921.1:c.*52T>C||2576|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding|21/21||NM_001369922.1:c.*52T>C||2549|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding|21/21||NM_001369923.1:c.*52T>C||2502|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding|20/20||NM_001369924.1:c.*52T>C||2428|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding|19/19||NM_001369925.1:c.*52T>C||2296|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding|20/20||NM_001369926.1:c.*52T>C||2343|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding|19/19||NM_001369927.1:c.*52T>C||2281|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding|21/21||NM_001369928.1:c.*52T>C||2417|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding|19/19||NM_001369929.1:c.*52T>C||2269|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding|18/18||NM_001369930.1:c.*52T>C||2206|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding|23/23||NM_001369931.1:c.*52T>C||2700|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding|21/21||NM_001369932.1:c.*52T>C||2528|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding|20/20||NM_001369933.1:c.*52T>C||2404|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding|19/19||NM_001369934.1:c.*52T>C||2342|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding|21/21||NM_001369935.1:c.*52T>C||2564|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding|18/18||NM_001369936.1:c.*52T>C||2183|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding|19/19||NM_001369937.1:c.*52T>C||2245|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding|21/21||NM_001369938.1:c.*52T>C||2429|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding|19/19||NM_001369939.1:c.*52T>C||2269|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding|20/20||NM_001369940.1:c.*52T>C||2466|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding|19/19||NM_001369941.1:c.*52T>C||2330|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding|17/17||NM_001369942.1:c.*52T>C||2012|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding|18/18||NM_001369943.1:c.*52T>C||2212|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding|17/17||NM_001369944.1:c.*52T>C||1944|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding|20/20||NM_001369945.1:c.*52T>C||2464|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding|21/21||NM_001369946.1:c.*52T>C||2496|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding|17/17||NM_001369947.1:c.*52T>C||2053|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding|21/21||NM_001369948.1:c.*52T>C||2562|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding|19/19||NM_001369949.1:c.*52T>C||2305|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding|18/18||NM_001369950.1:c.*52T>C||2096|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding|20/20||NM_032204.5:c.*52T>C||2440|||||rs7954||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding|21/21||XM_011530442.4:c.*52T>C||2517|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding|22/22||XM_011530443.3:c.*52T>C||2591|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding|22/22||XM_011530444.3:c.*52T>C||2638|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding|21/21||XM_011530445.3:c.*52T>C||2564|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding|20/20||XM_011530448.3:c.*52T>C||2358|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding|21/21||XM_011530453.3:c.*52T>C||2543|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding|20/20||XM_011530454.3:c.*52T>C||2419|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding|19/19||XM_011530455.3:c.*52T>C||2357|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding|19/19||XM_024452287.2:c.*52T>C||3550|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding|18/18||XM_024452288.2:c.*52T>C||3475|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding|18/18||XM_024452289.2:c.*52T>C||3459|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding|18/18||XM_024452290.2:c.*52T>C||3391|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding|18/18||XM_024452291.2:c.*52T>C||3375|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding|19/19||XM_047441538.1:c.*52T>C||3534|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding|20/20||XM_047441539.1:c.*52T>C||3252|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding|22/22||XM_047441540.1:c.*52T>C||2623|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding|19/19||XM_047441541.1:c.*52T>C||2380|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding|17/17||XM_047441542.1:c.*52T>C||3301|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding|20/20||XM_047441543.1:c.*52T>C||2427|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding|21/21||XM_047441544.1:c.*52T>C||2501|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding|19/19||XM_047441545.1:c.*52T>C||2365|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding|20/20||XM_047441546.1:c.*52T>C||2474|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding|20/20||XM_047441547.1:c.*52T>C||2390|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding|18/18||XM_047441548.1:c.*52T>C||2267|||||rs7954||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29788961A>G|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|-40|-30|-16|46;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000472433,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=846300;gnomADv4_1_AC_joint_XX=433238;gnomADv4_1_AC_joint_XY=413062;gnomADv4_1_AF_grpmax_joint=0.715112;gnomADv4_1_AF_joint=0.525923;gnomADv4_1_AF_joint_XX=0.534474;gnomADv4_1_AF_joint_XY=0.517244;gnomADv4_1_AN_grpmax_joint=44800;gnomADv4_1_AN_joint=1609170;gnomADv4_1_AN_joint_XX=810588;gnomADv4_1_AN_joint_XY=798582;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=228485;gnomADv4_1_nhomalt_joint_XX=117970;gnomADv4_1_nhomalt_joint_XY=110515;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29789362 chr22_29789362_CTGACCAGCCCCGAG_C CTGACCAGCCCCGAG C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADDIndel_PHREDscore=8.713;CADDIndel_Rawscore=0.844632;CSQ=-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||19/19|ENST00000307790.8:c.2103-192_2103-179del|||||||rs140148||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||20/20|ENST00000397771.6:c.2103-192_2103-179del|||||||rs140148||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs140148|4201|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||20/20|ENST00000458594.5:c.*1992-192_*1992-179del|||||||rs140148||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.297-524_297-511del|||||||rs140148||-1||HGNC|HGNC:24103|3||||||||Ensembl||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs140148|4211|-1||HGNC|HGNC:24103|3||||||||Ensembl||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||6/6|ENST00000487486.5:n.1023-192_1023-179del|||||||rs140148||-1||HGNC|HGNC:24103|2||||||||Ensembl||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||18/18|ENST00000542393.5:c.1875-192_1875-179del|||||||rs140148||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||18/18|NM_001242906.2:c.1875-192_1875-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||19/19|NM_001369920.1:c.2118-192_2118-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||21/21|NM_001369921.1:c.2103-192_2103-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||20/20|NM_001369922.1:c.2103-192_2103-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||20/20|NM_001369923.1:c.2103-192_2103-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||19/19|NM_001369924.1:c.2091-192_2091-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||18/18|NM_001369925.1:c.1959-192_1959-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||19/19|NM_001369926.1:c.1944-192_1944-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||18/18|NM_001369927.1:c.1944-192_1944-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||20/20|NM_001369928.1:c.1944-192_1944-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||18/18|NM_001369929.1:c.1932-192_1932-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||17/17|NM_001369930.1:c.1869-192_1869-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||22/22|NM_001369931.1:c.1761-192_1761-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||20/20|NM_001369932.1:c.1761-192_1761-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||19/19|NM_001369933.1:c.1761-192_1761-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||18/18|NM_001369934.1:c.1761-192_1761-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||20/20|NM_001369935.1:c.1761-192_1761-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||17/17|NM_001369936.1:c.1761-192_1761-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||18/18|NM_001369937.1:c.1761-192_1761-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||20/20|NM_001369938.1:c.1761-192_1761-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||18/18|NM_001369939.1:c.1761-192_1761-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||19/19|NM_001369940.1:c.1761-192_1761-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||18/18|NM_001369941.1:c.1749-192_1749-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||16/16|NM_001369942.1:c.1569-192_1569-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||17/17|NM_001369943.1:c.1395-192_1395-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||16/16|NM_001369944.1:c.1395-192_1395-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||19/19|NM_001369945.1:c.1395-192_1395-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||20/20|NM_001369946.1:c.1395-192_1395-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||16/16|NM_001369947.1:c.1395-192_1395-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||20/20|NM_001369948.1:c.1395-192_1395-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||18/18|NM_001369949.1:c.1395-192_1395-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||17/17|NM_001369950.1:c.1389-192_1389-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||19/19|NM_032204.5:c.2103-192_2103-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||20/20|XM_011530442.4:c.2118-192_2118-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||21/21|XM_011530443.3:c.2118-192_2118-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||21/21|XM_011530444.3:c.2118-192_2118-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||20/20|XM_011530445.3:c.2118-192_2118-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||19/19|XM_011530448.3:c.1959-192_1959-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||20/20|XM_011530453.3:c.1776-192_1776-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||19/19|XM_011530454.3:c.1776-192_1776-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||18/18|XM_011530455.3:c.1776-192_1776-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||18/18|XM_024452287.2:c.2280-192_2280-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||17/17|XM_024452288.2:c.2205-192_2205-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||17/17|XM_024452289.2:c.2190-192_2190-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||17/17|XM_024452290.2:c.2121-192_2121-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||17/17|XM_024452291.2:c.2106-192_2106-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||18/18|XM_047441538.1:c.2265-192_2265-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||19/19|XM_047441539.1:c.2118-192_2118-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||21/21|XM_047441540.1:c.2103-192_2103-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||18/18|XM_047441541.1:c.2043-192_2043-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||16/16|XM_047441542.1:c.2031-192_2031-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||19/19|XM_047441543.1:c.2028-192_2028-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||20/20|XM_047441544.1:c.2028-192_2028-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||18/18|XM_047441545.1:c.2028-192_2028-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||19/19|XM_047441546.1:c.2028-192_2028-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||19/19|XM_047441547.1:c.1944-192_1944-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||17/17|XM_047441548.1:c.1686-192_1686-179del|||||||rs140148||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||TGACCAGCCCCGAG|TGACCAGCCCCGAG||||chr22:g.29789363_29789376del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000472433,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46902;gnomADv4_1_AC_joint_XX=24461;gnomADv4_1_AC_joint_XY=22441;gnomADv4_1_AF_grpmax_joint=0.583984;gnomADv4_1_AF_joint=0.308497;gnomADv4_1_AF_joint_XX=0.314651;gnomADv4_1_AF_joint_XY=0.302057;gnomADv4_1_AN_grpmax_joint=5120;gnomADv4_1_AN_joint=152034;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8353;gnomADv4_1_nhomalt_joint_XX=4479;gnomADv4_1_nhomalt_joint_XY=3874;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29789624 chr22_29789624_C_T C T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=5.394;CADD_Rawscore=0.493278;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||19/19|ENST00000307790.8:c.2103-440G>A|||||||rs140149||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||20/20|ENST00000397771.6:c.2103-440G>A|||||||rs140149||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29789624C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs140149|3953|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||20/20|ENST00000458594.5:c.*1992-440G>A|||||||rs140149||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.297-772G>A|||||||rs140149||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29789624C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs140149|3963|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||6/6|ENST00000487486.5:n.1023-440G>A|||||||rs140149||-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||18/18|ENST00000542393.5:c.1875-440G>A|||||||rs140149||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||18/18|NM_001242906.2:c.1875-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||19/19|NM_001369920.1:c.2118-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||21/21|NM_001369921.1:c.2103-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||20/20|NM_001369922.1:c.2103-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||20/20|NM_001369923.1:c.2103-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||19/19|NM_001369924.1:c.2091-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||18/18|NM_001369925.1:c.1959-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||19/19|NM_001369926.1:c.1944-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||18/18|NM_001369927.1:c.1944-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||20/20|NM_001369928.1:c.1944-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||18/18|NM_001369929.1:c.1932-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||17/17|NM_001369930.1:c.1869-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||22/22|NM_001369931.1:c.1761-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||20/20|NM_001369932.1:c.1761-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||19/19|NM_001369933.1:c.1761-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||18/18|NM_001369934.1:c.1761-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||20/20|NM_001369935.1:c.1761-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||17/17|NM_001369936.1:c.1761-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||18/18|NM_001369937.1:c.1761-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||20/20|NM_001369938.1:c.1761-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||18/18|NM_001369939.1:c.1761-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||19/19|NM_001369940.1:c.1761-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||18/18|NM_001369941.1:c.1749-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||16/16|NM_001369942.1:c.1569-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||17/17|NM_001369943.1:c.1395-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||16/16|NM_001369944.1:c.1395-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||19/19|NM_001369945.1:c.1395-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||20/20|NM_001369946.1:c.1395-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||16/16|NM_001369947.1:c.1395-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||20/20|NM_001369948.1:c.1395-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||18/18|NM_001369949.1:c.1395-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||17/17|NM_001369950.1:c.1389-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||19/19|NM_032204.5:c.2103-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||20/20|XM_011530442.4:c.2118-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||21/21|XM_011530443.3:c.2118-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||21/21|XM_011530444.3:c.2118-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||20/20|XM_011530445.3:c.2118-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||19/19|XM_011530448.3:c.1959-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||20/20|XM_011530453.3:c.1776-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||19/19|XM_011530454.3:c.1776-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||18/18|XM_011530455.3:c.1776-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||18/18|XM_024452287.2:c.2280-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||17/17|XM_024452288.2:c.2205-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||17/17|XM_024452289.2:c.2190-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||17/17|XM_024452290.2:c.2121-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||17/17|XM_024452291.2:c.2106-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||18/18|XM_047441538.1:c.2265-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||19/19|XM_047441539.1:c.2118-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||21/21|XM_047441540.1:c.2103-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||18/18|XM_047441541.1:c.2043-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||16/16|XM_047441542.1:c.2031-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||19/19|XM_047441543.1:c.2028-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||20/20|XM_047441544.1:c.2028-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||18/18|XM_047441545.1:c.2028-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||19/19|XM_047441546.1:c.2028-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||19/19|XM_047441547.1:c.1944-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||17/17|XM_047441548.1:c.1686-440G>A|||||||rs140149||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29789624C>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|-2|42|35|-26;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000472433,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46140;gnomADv4_1_AC_joint_XX=24017;gnomADv4_1_AC_joint_XY=22123;gnomADv4_1_AF_grpmax_joint=0.586855;gnomADv4_1_AF_joint=0.303309;gnomADv4_1_AF_joint_XX=0.308837;gnomADv4_1_AF_joint_XY=0.297528;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8267;gnomADv4_1_nhomalt_joint_XX=4429;gnomADv4_1_nhomalt_joint_XY=3838;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29789730 chr22_29789730_C_G C G 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.1;CADD_Rawscore=-0.610764;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||19/19|ENST00000307790.8:c.2103-546G>C|||||||rs140150||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||20/20|ENST00000397771.6:c.2103-546G>C|||||||rs140150||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29789730C>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs140150|3847|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||20/20|ENST00000458594.5:c.*1992-546G>C|||||||rs140150||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.297-878G>C|||||||rs140150||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29789730C>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs140150|3857|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||6/6|ENST00000487486.5:n.1023-546G>C|||||||rs140150||-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||18/18|ENST00000542393.5:c.1875-546G>C|||||||rs140150||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||18/18|NM_001242906.2:c.1875-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||19/19|NM_001369920.1:c.2118-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||21/21|NM_001369921.1:c.2103-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||20/20|NM_001369922.1:c.2103-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||20/20|NM_001369923.1:c.2103-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||19/19|NM_001369924.1:c.2091-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||18/18|NM_001369925.1:c.1959-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||19/19|NM_001369926.1:c.1944-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||18/18|NM_001369927.1:c.1944-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||20/20|NM_001369928.1:c.1944-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||18/18|NM_001369929.1:c.1932-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||17/17|NM_001369930.1:c.1869-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||22/22|NM_001369931.1:c.1761-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||20/20|NM_001369932.1:c.1761-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||19/19|NM_001369933.1:c.1761-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||18/18|NM_001369934.1:c.1761-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||20/20|NM_001369935.1:c.1761-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||17/17|NM_001369936.1:c.1761-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||18/18|NM_001369937.1:c.1761-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||20/20|NM_001369938.1:c.1761-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||18/18|NM_001369939.1:c.1761-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||19/19|NM_001369940.1:c.1761-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||18/18|NM_001369941.1:c.1749-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||16/16|NM_001369942.1:c.1569-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||17/17|NM_001369943.1:c.1395-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||16/16|NM_001369944.1:c.1395-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||19/19|NM_001369945.1:c.1395-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||20/20|NM_001369946.1:c.1395-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||16/16|NM_001369947.1:c.1395-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||20/20|NM_001369948.1:c.1395-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||18/18|NM_001369949.1:c.1395-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||17/17|NM_001369950.1:c.1389-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||19/19|NM_032204.5:c.2103-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||20/20|XM_011530442.4:c.2118-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||21/21|XM_011530443.3:c.2118-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||21/21|XM_011530444.3:c.2118-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||20/20|XM_011530445.3:c.2118-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||19/19|XM_011530448.3:c.1959-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||20/20|XM_011530453.3:c.1776-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||19/19|XM_011530454.3:c.1776-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||18/18|XM_011530455.3:c.1776-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||18/18|XM_024452287.2:c.2280-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||17/17|XM_024452288.2:c.2205-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||17/17|XM_024452289.2:c.2190-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||17/17|XM_024452290.2:c.2121-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||17/17|XM_024452291.2:c.2106-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||18/18|XM_047441538.1:c.2265-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||19/19|XM_047441539.1:c.2118-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||21/21|XM_047441540.1:c.2103-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||18/18|XM_047441541.1:c.2043-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||16/16|XM_047441542.1:c.2031-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||19/19|XM_047441543.1:c.2028-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||20/20|XM_047441544.1:c.2028-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||18/18|XM_047441545.1:c.2028-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||19/19|XM_047441546.1:c.2028-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||19/19|XM_047441547.1:c.1944-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||17/17|XM_047441548.1:c.1686-546G>C|||||||rs140150||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29789730C>G|||1||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|3|-1|-16|26;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000472433,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48978;gnomADv4_1_AC_joint_XX=25548;gnomADv4_1_AC_joint_XY=23430;gnomADv4_1_AF_grpmax_joint=0.586561;gnomADv4_1_AF_joint=0.321978;gnomADv4_1_AF_joint_XX=0.328431;gnomADv4_1_AF_joint_XY=0.315224;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8737;gnomADv4_1_nhomalt_joint_XX=4678;gnomADv4_1_nhomalt_joint_XY=4059;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29789900 chr22_29789900_A_T A T 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=5.128;CADD_Rawscore=0.46792;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||19/19|ENST00000307790.8:c.2102+569T>A|||||||rs131301||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||20/20|ENST00000397771.6:c.2102+569T>A|||||||rs131301||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29789900A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs131301|3677|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||20/20|ENST00000458594.5:c.*1991+569T>A|||||||rs131301||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.297-1048T>A|||||||rs131301||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29789900A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs131301|3687|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||6/6|ENST00000487486.5:n.1022+569T>A|||||||rs131301||-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||18/18|ENST00000542393.5:c.1874+569T>A|||||||rs131301||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||18/18|NM_001242906.2:c.1874+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||19/19|NM_001369920.1:c.2117+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||21/21|NM_001369921.1:c.2102+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||20/20|NM_001369922.1:c.2102+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||20/20|NM_001369923.1:c.2102+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||19/19|NM_001369924.1:c.2090+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||18/18|NM_001369925.1:c.1958+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||19/19|NM_001369926.1:c.1943+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||18/18|NM_001369927.1:c.1943+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||20/20|NM_001369928.1:c.1943+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||18/18|NM_001369929.1:c.1931+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||17/17|NM_001369930.1:c.1868+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||22/22|NM_001369931.1:c.1760+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||20/20|NM_001369932.1:c.1760+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||19/19|NM_001369933.1:c.1760+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||18/18|NM_001369934.1:c.1760+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||20/20|NM_001369935.1:c.1760+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||17/17|NM_001369936.1:c.1760+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||18/18|NM_001369937.1:c.1760+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||20/20|NM_001369938.1:c.1760+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||18/18|NM_001369939.1:c.1760+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||19/19|NM_001369940.1:c.1760+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||18/18|NM_001369941.1:c.1748+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||16/16|NM_001369942.1:c.1568+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||17/17|NM_001369943.1:c.1394+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||16/16|NM_001369944.1:c.1394+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||19/19|NM_001369945.1:c.1394+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||20/20|NM_001369946.1:c.1394+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||16/16|NM_001369947.1:c.1394+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||20/20|NM_001369948.1:c.1394+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||18/18|NM_001369949.1:c.1394+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||17/17|NM_001369950.1:c.1388+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||19/19|NM_032204.5:c.2102+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||20/20|XM_011530442.4:c.2117+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||21/21|XM_011530443.3:c.2117+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||21/21|XM_011530444.3:c.2117+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||20/20|XM_011530445.3:c.2117+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||19/19|XM_011530448.3:c.1958+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||20/20|XM_011530453.3:c.1775+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||19/19|XM_011530454.3:c.1775+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||18/18|XM_011530455.3:c.1775+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||18/18|XM_024452287.2:c.2279+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||17/17|XM_024452288.2:c.2204+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||17/17|XM_024452289.2:c.2189+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||17/17|XM_024452290.2:c.2120+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||17/17|XM_024452291.2:c.2105+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||18/18|XM_047441538.1:c.2264+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||19/19|XM_047441539.1:c.2117+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||21/21|XM_047441540.1:c.2102+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||18/18|XM_047441541.1:c.2042+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||16/16|XM_047441542.1:c.2030+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||19/19|XM_047441543.1:c.2027+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||20/20|XM_047441544.1:c.2027+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||18/18|XM_047441545.1:c.2027+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||19/19|XM_047441546.1:c.2027+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||19/19|XM_047441547.1:c.1943+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||17/17|XM_047441548.1:c.1685+569T>A|||||||rs131301||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29789900A>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|45|-9|-7|-9;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000472433,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=63968;gnomADv4_1_AC_joint_XX=33406;gnomADv4_1_AC_joint_XY=30562;gnomADv4_1_AF_grpmax_joint=0.586341;gnomADv4_1_AF_joint=0.420814;gnomADv4_1_AF_joint_XX=0.429914;gnomADv4_1_AF_joint_XY=0.411299;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=152010;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13958;gnomADv4_1_nhomalt_joint_XX=7469;gnomADv4_1_nhomalt_joint_XY=6489;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29790150 chr22_29790150_C_T C T 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.015;CADD_Rawscore=-1.13233;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||19/19|ENST00000307790.8:c.2102+319G>A|||||||rs140151||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||20/20|ENST00000397771.6:c.2102+319G>A|||||||rs140151||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29790150C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs140151|3427|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||20/20|ENST00000458594.5:c.*1991+319G>A|||||||rs140151||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.297-1298G>A|||||||rs140151||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29790150C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs140151|3437|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||6/6|ENST00000487486.5:n.1022+319G>A|||||||rs140151||-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||18/18|ENST00000542393.5:c.1874+319G>A|||||||rs140151||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||18/18|NM_001242906.2:c.1874+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||19/19|NM_001369920.1:c.2117+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||21/21|NM_001369921.1:c.2102+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||20/20|NM_001369922.1:c.2102+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||20/20|NM_001369923.1:c.2102+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||19/19|NM_001369924.1:c.2090+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||18/18|NM_001369925.1:c.1958+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||19/19|NM_001369926.1:c.1943+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||18/18|NM_001369927.1:c.1943+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||20/20|NM_001369928.1:c.1943+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||18/18|NM_001369929.1:c.1931+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||17/17|NM_001369930.1:c.1868+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||22/22|NM_001369931.1:c.1760+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||20/20|NM_001369932.1:c.1760+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||19/19|NM_001369933.1:c.1760+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||18/18|NM_001369934.1:c.1760+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||20/20|NM_001369935.1:c.1760+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||17/17|NM_001369936.1:c.1760+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||18/18|NM_001369937.1:c.1760+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||20/20|NM_001369938.1:c.1760+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||18/18|NM_001369939.1:c.1760+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||19/19|NM_001369940.1:c.1760+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||18/18|NM_001369941.1:c.1748+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||16/16|NM_001369942.1:c.1568+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||17/17|NM_001369943.1:c.1394+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||16/16|NM_001369944.1:c.1394+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||19/19|NM_001369945.1:c.1394+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||20/20|NM_001369946.1:c.1394+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||16/16|NM_001369947.1:c.1394+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||20/20|NM_001369948.1:c.1394+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||18/18|NM_001369949.1:c.1394+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||17/17|NM_001369950.1:c.1388+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||19/19|NM_032204.5:c.2102+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||20/20|XM_011530442.4:c.2117+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||21/21|XM_011530443.3:c.2117+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||21/21|XM_011530444.3:c.2117+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||20/20|XM_011530445.3:c.2117+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||19/19|XM_011530448.3:c.1958+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||20/20|XM_011530453.3:c.1775+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||19/19|XM_011530454.3:c.1775+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||18/18|XM_011530455.3:c.1775+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||18/18|XM_024452287.2:c.2279+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||17/17|XM_024452288.2:c.2204+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||17/17|XM_024452289.2:c.2189+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||17/17|XM_024452290.2:c.2120+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||17/17|XM_024452291.2:c.2105+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||18/18|XM_047441538.1:c.2264+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||19/19|XM_047441539.1:c.2117+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||21/21|XM_047441540.1:c.2102+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||18/18|XM_047441541.1:c.2042+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||16/16|XM_047441542.1:c.2030+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||19/19|XM_047441543.1:c.2027+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||20/20|XM_047441544.1:c.2027+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||18/18|XM_047441545.1:c.2027+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||19/19|XM_047441546.1:c.2027+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||19/19|XM_047441547.1:c.1943+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||17/17|XM_047441548.1:c.1685+319G>A|||||||rs140151||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29790150C>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|-10|18|29|-1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000472433,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118556;gnomADv4_1_AC_joint_XX=60849;gnomADv4_1_AC_joint_XY=57707;gnomADv4_1_AF_grpmax_joint=0.914573;gnomADv4_1_AF_joint=0.779502;gnomADv4_1_AF_joint_XX=0.782523;gnomADv4_1_AF_joint_XY=0.776341;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46745;gnomADv4_1_nhomalt_joint_XX=24125;gnomADv4_1_nhomalt_joint_XY=22620;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29791713 chr22_29791713_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=4.172;CADD_Rawscore=0.380493;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||18/19|ENST00000307790.8:c.2022+720G>A|||||||rs9614055||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||19/20|ENST00000397771.6:c.2022+720G>A|||||||rs9614055||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29791713C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs9614055|1864|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||19/20|ENST00000458594.5:c.*1911+720G>A|||||||rs9614055||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.297-2861G>A|||||||rs9614055||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29791713C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs9614055|1874|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||5/6|ENST00000487486.5:n.942+720G>A|||||||rs9614055||-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||17/18|ENST00000542393.5:c.1794+720G>A|||||||rs9614055||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||17/18|NM_001242906.2:c.1794+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||18/19|NM_001369920.1:c.2037+705G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||20/21|NM_001369921.1:c.2022+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||19/20|NM_001369922.1:c.2022+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||19/20|NM_001369923.1:c.2022+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||18/19|NM_001369924.1:c.2010+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||17/18|NM_001369925.1:c.1878+705G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||18/19|NM_001369926.1:c.1863+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||17/18|NM_001369927.1:c.1863+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||19/20|NM_001369928.1:c.1863+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||17/18|NM_001369929.1:c.1851+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||16/17|NM_001369930.1:c.1788+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||21/22|NM_001369931.1:c.1680+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||19/20|NM_001369932.1:c.1680+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||18/19|NM_001369933.1:c.1680+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||17/18|NM_001369934.1:c.1680+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||19/20|NM_001369935.1:c.1680+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||16/17|NM_001369936.1:c.1680+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||17/18|NM_001369937.1:c.1680+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||19/20|NM_001369938.1:c.1680+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||17/18|NM_001369939.1:c.1680+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||18/19|NM_001369940.1:c.1680+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||17/18|NM_001369941.1:c.1668+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||15/16|NM_001369942.1:c.1488+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||16/17|NM_001369943.1:c.1314+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||15/16|NM_001369944.1:c.1314+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||18/19|NM_001369945.1:c.1314+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||19/20|NM_001369946.1:c.1314+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||15/16|NM_001369947.1:c.1314+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||19/20|NM_001369948.1:c.1314+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||17/18|NM_001369949.1:c.1314+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||16/17|NM_001369950.1:c.1308+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||18/19|NM_032204.5:c.2022+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||19/20|XM_011530442.4:c.2037+705G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||20/21|XM_011530443.3:c.2037+705G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||20/21|XM_011530444.3:c.2037+705G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||19/20|XM_011530445.3:c.2037+705G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||18/19|XM_011530448.3:c.1878+705G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||19/20|XM_011530453.3:c.1695+705G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||18/19|XM_011530454.3:c.1695+705G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||17/18|XM_011530455.3:c.1695+705G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||17/18|XM_024452287.2:c.2199+705G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||16/17|XM_024452288.2:c.2124+705G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||16/17|XM_024452289.2:c.2109+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||16/17|XM_024452290.2:c.2040+705G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||16/17|XM_024452291.2:c.2025+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||17/18|XM_047441538.1:c.2184+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||18/19|XM_047441539.1:c.2037+705G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||20/21|XM_047441540.1:c.2022+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||17/18|XM_047441541.1:c.1962+705G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||15/16|XM_047441542.1:c.1950+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||18/19|XM_047441543.1:c.1947+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||19/20|XM_047441544.1:c.1947+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||17/18|XM_047441545.1:c.1947+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||18/19|XM_047441546.1:c.1947+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||18/19|XM_047441547.1:c.1863+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||16/17|XM_047441548.1:c.1605+720G>A|||||||rs9614055||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29791713C>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|-35|12|3|45;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000472433,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61832;gnomADv4_1_AC_joint_XX=32320;gnomADv4_1_AC_joint_XY=29512;gnomADv4_1_AF_grpmax_joint=0.585919;gnomADv4_1_AF_joint=0.406806;gnomADv4_1_AF_joint_XX=0.415873;gnomADv4_1_AF_joint_XY=0.397318;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151994;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13190;gnomADv4_1_nhomalt_joint_XX=7068;gnomADv4_1_nhomalt_joint_XY=6122;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29792095 chr22_29792095_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=8.912;CADD_Rawscore=0.864891;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||18/19|ENST00000307790.8:c.2022+338G>A|||||||rs5752961||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||19/20|ENST00000397771.6:c.2022+338G>A|||||||rs5752961||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29792095C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs5752961|1482|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||19/20|ENST00000458594.5:c.*1911+338G>A|||||||rs5752961||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.297-3243G>A|||||||rs5752961||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29792095C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs5752961|1492|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||5/6|ENST00000487486.5:n.942+338G>A|||||||rs5752961||-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||17/18|ENST00000542393.5:c.1794+338G>A|||||||rs5752961||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||17/18|NM_001242906.2:c.1794+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||18/19|NM_001369920.1:c.2037+323G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||20/21|NM_001369921.1:c.2022+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||19/20|NM_001369922.1:c.2022+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||19/20|NM_001369923.1:c.2022+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||18/19|NM_001369924.1:c.2010+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||17/18|NM_001369925.1:c.1878+323G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||18/19|NM_001369926.1:c.1863+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||17/18|NM_001369927.1:c.1863+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||19/20|NM_001369928.1:c.1863+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||17/18|NM_001369929.1:c.1851+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||16/17|NM_001369930.1:c.1788+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||21/22|NM_001369931.1:c.1680+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||19/20|NM_001369932.1:c.1680+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||18/19|NM_001369933.1:c.1680+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||17/18|NM_001369934.1:c.1680+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||19/20|NM_001369935.1:c.1680+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||16/17|NM_001369936.1:c.1680+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||17/18|NM_001369937.1:c.1680+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||19/20|NM_001369938.1:c.1680+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||17/18|NM_001369939.1:c.1680+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||18/19|NM_001369940.1:c.1680+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||17/18|NM_001369941.1:c.1668+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||15/16|NM_001369942.1:c.1488+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||16/17|NM_001369943.1:c.1314+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||15/16|NM_001369944.1:c.1314+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||18/19|NM_001369945.1:c.1314+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||19/20|NM_001369946.1:c.1314+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||15/16|NM_001369947.1:c.1314+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||19/20|NM_001369948.1:c.1314+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||17/18|NM_001369949.1:c.1314+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||16/17|NM_001369950.1:c.1308+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||18/19|NM_032204.5:c.2022+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||19/20|XM_011530442.4:c.2037+323G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||20/21|XM_011530443.3:c.2037+323G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||20/21|XM_011530444.3:c.2037+323G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||19/20|XM_011530445.3:c.2037+323G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||18/19|XM_011530448.3:c.1878+323G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||19/20|XM_011530453.3:c.1695+323G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||18/19|XM_011530454.3:c.1695+323G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||17/18|XM_011530455.3:c.1695+323G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||17/18|XM_024452287.2:c.2199+323G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||16/17|XM_024452288.2:c.2124+323G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||16/17|XM_024452289.2:c.2109+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||16/17|XM_024452290.2:c.2040+323G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||16/17|XM_024452291.2:c.2025+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||17/18|XM_047441538.1:c.2184+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||18/19|XM_047441539.1:c.2037+323G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||20/21|XM_047441540.1:c.2022+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||17/18|XM_047441541.1:c.1962+323G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||15/16|XM_047441542.1:c.1950+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||18/19|XM_047441543.1:c.1947+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||19/20|XM_047441544.1:c.1947+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||17/18|XM_047441545.1:c.1947+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||18/19|XM_047441546.1:c.1947+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||18/19|XM_047441547.1:c.1863+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||16/17|XM_047441548.1:c.1605+338G>A|||||||rs5752961||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29792095C>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|1|33|7|-30;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000472433,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61892;gnomADv4_1_AC_joint_XX=32322;gnomADv4_1_AC_joint_XY=29570;gnomADv4_1_AF_grpmax_joint=0.586587;gnomADv4_1_AF_joint=0.407034;gnomADv4_1_AF_joint_XX=0.415845;gnomADv4_1_AF_joint_XY=0.397821;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13230;gnomADv4_1_nhomalt_joint_XX=7078;gnomADv4_1_nhomalt_joint_XY=6152;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29792256 chr22_29792256_T_G T G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.937;CADD_Rawscore=0.155414;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||18/19|ENST00000307790.8:c.2022+177A>C|||||||rs5752962||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||19/20|ENST00000397771.6:c.2022+177A>C|||||||rs5752962||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29792256T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs5752962|1321|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||19/20|ENST00000458594.5:c.*1911+177A>C|||||||rs5752962||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.297-3404A>C|||||||rs5752962||-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29792256T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs5752962|1331|-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||5/6|ENST00000487486.5:n.942+177A>C|||||||rs5752962||-1||HGNC|HGNC:24103|2||||||||Ensembl||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||17/18|ENST00000542393.5:c.1794+177A>C|||||||rs5752962||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||17/18|NM_001242906.2:c.1794+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||18/19|NM_001369920.1:c.2037+162A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||20/21|NM_001369921.1:c.2022+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||19/20|NM_001369922.1:c.2022+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||19/20|NM_001369923.1:c.2022+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||18/19|NM_001369924.1:c.2010+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||17/18|NM_001369925.1:c.1878+162A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||18/19|NM_001369926.1:c.1863+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||17/18|NM_001369927.1:c.1863+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||19/20|NM_001369928.1:c.1863+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||17/18|NM_001369929.1:c.1851+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||16/17|NM_001369930.1:c.1788+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||21/22|NM_001369931.1:c.1680+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||19/20|NM_001369932.1:c.1680+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||18/19|NM_001369933.1:c.1680+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||17/18|NM_001369934.1:c.1680+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||19/20|NM_001369935.1:c.1680+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||16/17|NM_001369936.1:c.1680+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||17/18|NM_001369937.1:c.1680+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||19/20|NM_001369938.1:c.1680+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||17/18|NM_001369939.1:c.1680+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||18/19|NM_001369940.1:c.1680+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||17/18|NM_001369941.1:c.1668+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||15/16|NM_001369942.1:c.1488+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||16/17|NM_001369943.1:c.1314+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||15/16|NM_001369944.1:c.1314+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||18/19|NM_001369945.1:c.1314+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||19/20|NM_001369946.1:c.1314+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||15/16|NM_001369947.1:c.1314+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||19/20|NM_001369948.1:c.1314+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||17/18|NM_001369949.1:c.1314+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||16/17|NM_001369950.1:c.1308+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||18/19|NM_032204.5:c.2022+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||19/20|XM_011530442.4:c.2037+162A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||20/21|XM_011530443.3:c.2037+162A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||20/21|XM_011530444.3:c.2037+162A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||19/20|XM_011530445.3:c.2037+162A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||18/19|XM_011530448.3:c.1878+162A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||19/20|XM_011530453.3:c.1695+162A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||18/19|XM_011530454.3:c.1695+162A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||17/18|XM_011530455.3:c.1695+162A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||17/18|XM_024452287.2:c.2199+162A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||16/17|XM_024452288.2:c.2124+162A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||16/17|XM_024452289.2:c.2109+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||16/17|XM_024452290.2:c.2040+162A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||16/17|XM_024452291.2:c.2025+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||17/18|XM_047441538.1:c.2184+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||18/19|XM_047441539.1:c.2037+162A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||20/21|XM_047441540.1:c.2022+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||17/18|XM_047441541.1:c.1962+162A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||15/16|XM_047441542.1:c.1950+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||18/19|XM_047441543.1:c.1947+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||19/20|XM_047441544.1:c.1947+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||17/18|XM_047441545.1:c.1947+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||18/19|XM_047441546.1:c.1947+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||18/19|XM_047441547.1:c.1863+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||16/17|XM_047441548.1:c.1605+177A>C|||||||rs5752962||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||T|T||||chr22:g.29792256T>G|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|33|-19|-17|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000472433,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84853;gnomADv4_1_AC_joint_XX=44156;gnomADv4_1_AC_joint_XY=40697;gnomADv4_1_AF_grpmax_joint=0.678451;gnomADv4_1_AF_joint=0.558935;gnomADv4_1_AF_joint_XX=0.568786;gnomADv4_1_AF_joint_XY=0.548625;gnomADv4_1_AN_grpmax_joint=41384;gnomADv4_1_AN_joint=151812;gnomADv4_1_AN_joint_XX=77632;gnomADv4_1_AN_joint_XY=74180;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24427;gnomADv4_1_nhomalt_joint_XX=12917;gnomADv4_1_nhomalt_joint_XY=11510;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29792622 chr22_29792622_T_C T C 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.697;CADD_Rawscore=-0.109981;CSQ=C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||17/19|ENST00000307790.8:c.1920-87A>G|||||||rs9614057||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||18/20|ENST00000397771.6:c.1920-87A>G|||||||rs9614057||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29792622T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs9614057|955|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||18/20|ENST00000458594.5:c.*1809-87A>G|||||||rs9614057||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.297-3770A>G|||||||rs9614057||-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29792622T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs9614057|965|-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||4/6|ENST00000487486.5:n.840-87A>G|||||||rs9614057||-1||HGNC|HGNC:24103|2||||||||Ensembl||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||16/18|ENST00000542393.5:c.1692-87A>G|||||||rs9614057||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||16/18|NM_001242906.2:c.1692-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||17/19|NM_001369920.1:c.1920-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||19/21|NM_001369921.1:c.1920-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||18/20|NM_001369922.1:c.1920-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||18/20|NM_001369923.1:c.1920-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||17/19|NM_001369924.1:c.1908-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||16/18|NM_001369925.1:c.1761-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||17/19|NM_001369926.1:c.1761-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||16/18|NM_001369927.1:c.1761-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||18/20|NM_001369928.1:c.1761-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||16/18|NM_001369929.1:c.1749-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||15/17|NM_001369930.1:c.1686-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||20/22|NM_001369931.1:c.1578-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||18/20|NM_001369932.1:c.1578-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||17/19|NM_001369933.1:c.1578-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||16/18|NM_001369934.1:c.1578-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||18/20|NM_001369935.1:c.1578-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||15/17|NM_001369936.1:c.1578-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||16/18|NM_001369937.1:c.1578-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||18/20|NM_001369938.1:c.1578-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||16/18|NM_001369939.1:c.1578-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||17/19|NM_001369940.1:c.1578-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||16/18|NM_001369941.1:c.1566-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||14/16|NM_001369942.1:c.1386-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||15/17|NM_001369943.1:c.1212-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||14/16|NM_001369944.1:c.1212-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||17/19|NM_001369945.1:c.1212-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||18/20|NM_001369946.1:c.1212-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||14/16|NM_001369947.1:c.1212-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||18/20|NM_001369948.1:c.1212-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||16/18|NM_001369949.1:c.1212-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||15/17|NM_001369950.1:c.1206-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||17/19|NM_032204.5:c.1920-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||18/20|XM_011530442.4:c.1920-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||19/21|XM_011530443.3:c.1920-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||19/21|XM_011530444.3:c.1920-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||18/20|XM_011530445.3:c.1920-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||17/19|XM_011530448.3:c.1761-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||18/20|XM_011530453.3:c.1578-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||17/19|XM_011530454.3:c.1578-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||16/18|XM_011530455.3:c.1578-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||16/18|XM_024452287.2:c.2082-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||15/17|XM_024452288.2:c.2007-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||15/17|XM_024452289.2:c.2007-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||15/17|XM_024452290.2:c.1923-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||15/17|XM_024452291.2:c.1923-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||16/18|XM_047441538.1:c.2082-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||17/19|XM_047441539.1:c.1920-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||19/21|XM_047441540.1:c.1920-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||16/18|XM_047441541.1:c.1845-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||14/16|XM_047441542.1:c.1848-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||17/19|XM_047441543.1:c.1845-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||18/20|XM_047441544.1:c.1845-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||16/18|XM_047441545.1:c.1845-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||17/19|XM_047441546.1:c.1845-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||17/19|XM_047441547.1:c.1761-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||15/17|XM_047441548.1:c.1503-87A>G|||||||rs9614057||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||T|T||||chr22:g.29792622T>C|||||||||||||;SpliceAI=C|ASCC2|0.00|0.00|0.00|0.00|16|-15|1|-14;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000472433,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=207723;gnomADv4_1_AC_joint_XX=106776;gnomADv4_1_AC_joint_XY=100947;gnomADv4_1_AF_grpmax_joint=0.157483;gnomADv4_1_AF_joint=0.132742;gnomADv4_1_AF_joint_XX=0.135599;gnomADv4_1_AF_joint_XY=0.129849;gnomADv4_1_AN_grpmax_joint=1147026;gnomADv4_1_AN_joint=1564858;gnomADv4_1_AN_joint_XX=787440;gnomADv4_1_AN_joint_XY=777418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15760;gnomADv4_1_nhomalt_joint_XX=8071;gnomADv4_1_nhomalt_joint_XY=7689;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29792810 chr22_29792810_G_GA G GA 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=9.481;CADDIndel_Rawscore=0.922504;CSQ=A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||17/19|ENST00000307790.8:c.1920-276dup|||||||rs144740491||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||18/20|ENST00000397771.6:c.1920-276dup|||||||rs144740491||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29792812dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs144740491|766|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||18/20|ENST00000458594.5:c.*1809-276dup|||||||rs144740491||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.297-3959dup|||||||rs144740491||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29792812dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs144740491|776|-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||4/6|ENST00000487486.5:n.840-276dup|||||||rs144740491||-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||16/18|ENST00000542393.5:c.1692-276dup|||||||rs144740491||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||16/18|NM_001242906.2:c.1692-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||17/19|NM_001369920.1:c.1920-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||19/21|NM_001369921.1:c.1920-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||18/20|NM_001369922.1:c.1920-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||18/20|NM_001369923.1:c.1920-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||17/19|NM_001369924.1:c.1908-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||16/18|NM_001369925.1:c.1761-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||17/19|NM_001369926.1:c.1761-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||16/18|NM_001369927.1:c.1761-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||18/20|NM_001369928.1:c.1761-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||16/18|NM_001369929.1:c.1749-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||15/17|NM_001369930.1:c.1686-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||20/22|NM_001369931.1:c.1578-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||18/20|NM_001369932.1:c.1578-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||17/19|NM_001369933.1:c.1578-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||16/18|NM_001369934.1:c.1578-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||18/20|NM_001369935.1:c.1578-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||15/17|NM_001369936.1:c.1578-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||16/18|NM_001369937.1:c.1578-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||18/20|NM_001369938.1:c.1578-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||16/18|NM_001369939.1:c.1578-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||17/19|NM_001369940.1:c.1578-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||16/18|NM_001369941.1:c.1566-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||14/16|NM_001369942.1:c.1386-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||15/17|NM_001369943.1:c.1212-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||14/16|NM_001369944.1:c.1212-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||17/19|NM_001369945.1:c.1212-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||18/20|NM_001369946.1:c.1212-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||14/16|NM_001369947.1:c.1212-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||18/20|NM_001369948.1:c.1212-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||16/18|NM_001369949.1:c.1212-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||15/17|NM_001369950.1:c.1206-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||17/19|NM_032204.5:c.1920-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||18/20|XM_011530442.4:c.1920-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||19/21|XM_011530443.3:c.1920-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||19/21|XM_011530444.3:c.1920-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||18/20|XM_011530445.3:c.1920-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||17/19|XM_011530448.3:c.1761-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||18/20|XM_011530453.3:c.1578-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||17/19|XM_011530454.3:c.1578-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||16/18|XM_011530455.3:c.1578-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||16/18|XM_024452287.2:c.2082-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||15/17|XM_024452288.2:c.2007-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||15/17|XM_024452289.2:c.2007-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||15/17|XM_024452290.2:c.1923-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||15/17|XM_024452291.2:c.1923-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||16/18|XM_047441538.1:c.2082-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||17/19|XM_047441539.1:c.1920-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||19/21|XM_047441540.1:c.1920-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||16/18|XM_047441541.1:c.1845-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||14/16|XM_047441542.1:c.1848-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||17/19|XM_047441543.1:c.1845-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||18/20|XM_047441544.1:c.1845-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||16/18|XM_047441545.1:c.1845-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||17/19|XM_047441546.1:c.1845-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||17/19|XM_047441547.1:c.1761-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||15/17|XM_047441548.1:c.1503-276dup|||||||rs144740491||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq|||||||chr22:g.29792812dup|||||||||||||;SpliceAI=GA|ASCC2|0.11|0.00|0.00|0.00|-11|19|20|32;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000472433,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7678;gnomADv4_1_AC_joint_XX=4172;gnomADv4_1_AC_joint_XY=3506;gnomADv4_1_AF_grpmax_joint=0.0745516;gnomADv4_1_AF_joint=0.0504581;gnomADv4_1_AF_joint_XX=0.0536426;gnomADv4_1_AF_joint_XY=0.0471287;gnomADv4_1_AN_grpmax_joint=15278;gnomADv4_1_AN_joint=152166;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74392;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=281;gnomADv4_1_nhomalt_joint_XX=154;gnomADv4_1_nhomalt_joint_XY=127;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29794396 chr22_29794396_C_G C G 48 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=1.486;CADD_Rawscore=0.085666;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||15/19|ENST00000307790.8:c.1689-720G>C|||||||rs5763498||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||16/20|ENST00000397771.6:c.1689-720G>C|||||||rs5763498||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||2/2|ENST00000411532.1:c.162-720G>C|||||||rs5763498||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||16/20|ENST00000458594.5:c.*1578-720G>C|||||||rs5763498||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.297-5544G>C|||||||rs5763498||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||1/1|ENST00000483380.1:n.109-720G>C|||||||rs5763498||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||3/6|ENST00000487486.5:n.523-720G>C|||||||rs5763498||-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||14/18|ENST00000542393.5:c.1461-720G>C|||||||rs5763498||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||14/18|NM_001242906.2:c.1461-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||15/19|NM_001369920.1:c.1689-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||17/21|NM_001369921.1:c.1689-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||16/20|NM_001369922.1:c.1689-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||16/20|NM_001369923.1:c.1689-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||15/19|NM_001369924.1:c.1689-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||14/18|NM_001369925.1:c.1530-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||15/19|NM_001369926.1:c.1530-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||14/18|NM_001369927.1:c.1530-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||16/20|NM_001369928.1:c.1530-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||14/18|NM_001369929.1:c.1530-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||13/17|NM_001369930.1:c.1455-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||18/22|NM_001369931.1:c.1347-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||16/20|NM_001369932.1:c.1347-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||15/19|NM_001369933.1:c.1347-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||14/18|NM_001369934.1:c.1347-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||16/20|NM_001369935.1:c.1347-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||13/17|NM_001369936.1:c.1347-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||14/18|NM_001369937.1:c.1347-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||16/20|NM_001369938.1:c.1347-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||14/18|NM_001369939.1:c.1347-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||15/19|NM_001369940.1:c.1347-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||14/18|NM_001369941.1:c.1347-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||12/16|NM_001369942.1:c.1155-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||13/17|NM_001369943.1:c.981-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||12/16|NM_001369944.1:c.981-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||15/19|NM_001369945.1:c.981-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||16/20|NM_001369946.1:c.981-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||12/16|NM_001369947.1:c.981-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||16/20|NM_001369948.1:c.981-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||14/18|NM_001369949.1:c.981-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||13/17|NM_001369950.1:c.981-726G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||15/19|NM_032204.5:c.1689-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||16/20|XM_011530442.4:c.1689-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||17/21|XM_011530443.3:c.1689-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||17/21|XM_011530444.3:c.1689-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||16/20|XM_011530445.3:c.1689-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||15/19|XM_011530448.3:c.1530-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||16/20|XM_011530453.3:c.1347-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||15/19|XM_011530454.3:c.1347-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||14/18|XM_011530455.3:c.1347-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||14/18|XM_024452287.2:c.1851-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||13/17|XM_024452288.2:c.1776-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||13/17|XM_024452289.2:c.1776-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||13/17|XM_024452290.2:c.1692-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||13/17|XM_024452291.2:c.1692-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||14/18|XM_047441538.1:c.1851-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||15/19|XM_047441539.1:c.1689-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||17/21|XM_047441540.1:c.1689-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||14/18|XM_047441541.1:c.1614-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||12/16|XM_047441542.1:c.1617-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||15/19|XM_047441543.1:c.1614-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||16/20|XM_047441544.1:c.1614-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||14/18|XM_047441545.1:c.1614-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||15/19|XM_047441546.1:c.1614-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||15/19|XM_047441547.1:c.1530-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||13/17|XM_047441548.1:c.1272-720G>C|||||||rs5763498||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29794396C>G|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|-30|18|-29|18;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000472433,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=145693;gnomADv4_1_AC_joint_XX=74499;gnomADv4_1_AC_joint_XY=71194;gnomADv4_1_AF_grpmax_joint=0.999206;gnomADv4_1_AF_joint=0.95915;gnomADv4_1_AF_joint_XX=0.958902;gnomADv4_1_AF_joint_XY=0.95941;gnomADv4_1_AN_grpmax_joint=5038;gnomADv4_1_AN_joint=151898;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74206;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=69955;gnomADv4_1_nhomalt_joint_XX=35749;gnomADv4_1_nhomalt_joint_XY=34206;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29797559 chr22_29797559_A_T A T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.112;CADD_Rawscore=0.009695;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||15/19|ENST00000307790.8:c.1688+3432T>A|||||||rs2349225||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||16/20|ENST00000397771.6:c.1688+3432T>A|||||||rs2349225||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||2/2|ENST00000411532.1:c.161+3432T>A|||||||rs2349225||-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||16/20|ENST00000458594.5:c.*1577+3432T>A|||||||rs2349225||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.297-8707T>A|||||||rs2349225||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||1/1|ENST00000483380.1:n.108+1636T>A|||||||rs2349225||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||3/6|ENST00000487486.5:n.522+3432T>A|||||||rs2349225||-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||14/18|ENST00000542393.5:c.1460+3432T>A|||||||rs2349225||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||14/18|NM_001242906.2:c.1460+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||15/19|NM_001369920.1:c.1688+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||17/21|NM_001369921.1:c.1688+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||16/20|NM_001369922.1:c.1688+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||16/20|NM_001369923.1:c.1688+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||15/19|NM_001369924.1:c.1688+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||14/18|NM_001369925.1:c.1529+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||15/19|NM_001369926.1:c.1529+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||14/18|NM_001369927.1:c.1529+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||16/20|NM_001369928.1:c.1529+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||14/18|NM_001369929.1:c.1529+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||13/17|NM_001369930.1:c.1454+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||18/22|NM_001369931.1:c.1346+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||16/20|NM_001369932.1:c.1346+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||15/19|NM_001369933.1:c.1346+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||14/18|NM_001369934.1:c.1346+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||16/20|NM_001369935.1:c.1346+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||13/17|NM_001369936.1:c.1346+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||14/18|NM_001369937.1:c.1346+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||16/20|NM_001369938.1:c.1346+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||14/18|NM_001369939.1:c.1346+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||15/19|NM_001369940.1:c.1346+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||14/18|NM_001369941.1:c.1346+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||12/16|NM_001369942.1:c.1154+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||13/17|NM_001369943.1:c.980+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||12/16|NM_001369944.1:c.980+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||15/19|NM_001369945.1:c.980+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||16/20|NM_001369946.1:c.980+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||12/16|NM_001369947.1:c.980+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||16/20|NM_001369948.1:c.980+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||14/18|NM_001369949.1:c.980+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||13/17|NM_001369950.1:c.980+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||15/19|NM_032204.5:c.1688+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||16/20|XM_011530442.4:c.1688+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||17/21|XM_011530443.3:c.1688+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||17/21|XM_011530444.3:c.1688+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||16/20|XM_011530445.3:c.1688+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||15/19|XM_011530448.3:c.1529+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||16/20|XM_011530453.3:c.1346+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||15/19|XM_011530454.3:c.1346+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||14/18|XM_011530455.3:c.1346+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||14/18|XM_024452287.2:c.1850+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||13/17|XM_024452288.2:c.1775+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||13/17|XM_024452289.2:c.1775+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||13/17|XM_024452290.2:c.1691+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||13/17|XM_024452291.2:c.1691+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||14/18|XM_047441538.1:c.1850+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||15/19|XM_047441539.1:c.1688+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||17/21|XM_047441540.1:c.1688+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||14/18|XM_047441541.1:c.1613+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||12/16|XM_047441542.1:c.1616+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||15/19|XM_047441543.1:c.1613+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||16/20|XM_047441544.1:c.1613+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||14/18|XM_047441545.1:c.1613+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||15/19|XM_047441546.1:c.1613+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||15/19|XM_047441547.1:c.1529+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||13/17|XM_047441548.1:c.1271+3432T>A|||||||rs2349225||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29797559A>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_8TMMX|enhancer||||||||||rs2349225|||||||||||||||||||||chr22:g.29797559A>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|45|-27|37|2;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000472433,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1,ENSR22_8TMMX;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,.;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=116764;gnomADv4_1_AC_joint_XX=59953;gnomADv4_1_AC_joint_XY=56811;gnomADv4_1_AF_grpmax_joint=0.903407;gnomADv4_1_AF_joint=0.76775;gnomADv4_1_AF_joint_XX=0.770961;gnomADv4_1_AF_joint_XY=0.76439;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152086;gnomADv4_1_AN_joint_XX=77764;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=45173;gnomADv4_1_nhomalt_joint_XX=23338;gnomADv4_1_nhomalt_joint_XY=21835;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29802492 chr22_29802492_CA_C CA C 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.79;CADDIndel_Rawscore=-0.078198;CSQ=-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||13/19|ENST00000307790.8:c.1354-285del|||||||rs67064044||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||14/20|ENST00000397771.6:c.1354-285del|||||||rs67064044||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29802504del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs67064044|391|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||14/20|ENST00000458594.5:c.*1364-285del|||||||rs67064044||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29802504del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||||||||||rs67064044|4343|-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.296+4304del|||||||rs67064044||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29802504del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs67064044|3721|-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29802504del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs67064044|3191|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||1/6|ENST00000487486.5:n.188-285del|||||||rs67064044||-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||12/18|ENST00000542393.5:c.1126-285del|||||||rs67064044||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||12/18|NM_001242906.2:c.1126-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||13/19|NM_001369920.1:c.1354-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||15/21|NM_001369921.1:c.1354-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||14/20|NM_001369922.1:c.1354-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||14/20|NM_001369923.1:c.1354-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||13/19|NM_001369924.1:c.1354-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||12/18|NM_001369925.1:c.1195-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||13/19|NM_001369926.1:c.1195-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||12/18|NM_001369927.1:c.1195-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||14/20|NM_001369928.1:c.1195-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||12/18|NM_001369929.1:c.1195-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||11/17|NM_001369930.1:c.1120-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||16/22|NM_001369931.1:c.1012-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||14/20|NM_001369932.1:c.1012-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||13/19|NM_001369933.1:c.1012-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||12/18|NM_001369934.1:c.1012-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||14/20|NM_001369935.1:c.1012-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||11/17|NM_001369936.1:c.1012-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||12/18|NM_001369937.1:c.1012-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||14/20|NM_001369938.1:c.1012-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||12/18|NM_001369939.1:c.1012-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||13/19|NM_001369940.1:c.1012-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||12/18|NM_001369941.1:c.1012-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||10/16|NM_001369942.1:c.820-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||11/17|NM_001369943.1:c.646-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||10/16|NM_001369944.1:c.646-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||13/19|NM_001369945.1:c.646-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||14/20|NM_001369946.1:c.646-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||10/16|NM_001369947.1:c.646-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||14/20|NM_001369948.1:c.646-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||12/18|NM_001369949.1:c.646-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||11/17|NM_001369950.1:c.646-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||13/19|NM_032204.5:c.1354-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||14/20|XM_011530442.4:c.1354-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||15/21|XM_011530443.3:c.1354-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||15/21|XM_011530444.3:c.1354-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||14/20|XM_011530445.3:c.1354-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||13/19|XM_011530448.3:c.1195-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||14/20|XM_011530453.3:c.1012-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||13/19|XM_011530454.3:c.1012-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||12/18|XM_011530455.3:c.1012-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||12/18|XM_024452287.2:c.1516-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||11/17|XM_024452288.2:c.1441-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||11/17|XM_024452289.2:c.1441-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||11/17|XM_024452290.2:c.1357-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||11/17|XM_024452291.2:c.1357-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||12/18|XM_047441538.1:c.1516-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||13/19|XM_047441539.1:c.1354-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||15/21|XM_047441540.1:c.1354-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||12/18|XM_047441541.1:c.1279-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||10/16|XM_047441542.1:c.1282-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||13/19|XM_047441543.1:c.1279-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||14/20|XM_047441544.1:c.1279-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||12/18|XM_047441545.1:c.1279-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||13/19|XM_047441546.1:c.1279-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||13/19|XM_047441547.1:c.1195-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||11/17|XM_047441548.1:c.937-285del|||||||rs67064044||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29802504del|||||||||||||;SpliceAI=C|ASCC2|0.00|0.00|0.00|0.00|-22|-25|-20|49;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66709;gnomADv4_1_AC_joint_XX=34852;gnomADv4_1_AC_joint_XY=31857;gnomADv4_1_AF_grpmax_joint=0.550059;gnomADv4_1_AF_joint=0.455302;gnomADv4_1_AF_joint_XX=0.462167;gnomADv4_1_AF_joint_XY=0.448021;gnomADv4_1_AN_grpmax_joint=5094;gnomADv4_1_AN_joint=146516;gnomADv4_1_AN_joint_XX=75410;gnomADv4_1_AN_joint_XY=71106;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15109;gnomADv4_1_nhomalt_joint_XX=8072;gnomADv4_1_nhomalt_joint_XY=7037;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29802501 chr22_29802501_A_T A T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.246;CADD_Rawscore=-0.373579;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||13/19|ENST00000307790.8:c.1354-293T>A|||||||rs9608815||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||14/20|ENST00000397771.6:c.1354-293T>A|||||||rs9608815||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29802501A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs9608815|399|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||14/20|ENST00000458594.5:c.*1364-293T>A|||||||rs9608815||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29802501A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||||||||||rs9608815|4335|-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.296+4296T>A|||||||rs9608815||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29802501A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs9608815|3713|-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29802501A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs9608815|3199|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||1/6|ENST00000487486.5:n.188-293T>A|||||||rs9608815||-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||12/18|ENST00000542393.5:c.1126-293T>A|||||||rs9608815||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||12/18|NM_001242906.2:c.1126-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||13/19|NM_001369920.1:c.1354-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||15/21|NM_001369921.1:c.1354-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||14/20|NM_001369922.1:c.1354-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||14/20|NM_001369923.1:c.1354-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||13/19|NM_001369924.1:c.1354-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||12/18|NM_001369925.1:c.1195-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||13/19|NM_001369926.1:c.1195-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||12/18|NM_001369927.1:c.1195-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||14/20|NM_001369928.1:c.1195-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||12/18|NM_001369929.1:c.1195-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||11/17|NM_001369930.1:c.1120-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||16/22|NM_001369931.1:c.1012-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||14/20|NM_001369932.1:c.1012-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||13/19|NM_001369933.1:c.1012-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||12/18|NM_001369934.1:c.1012-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||14/20|NM_001369935.1:c.1012-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||11/17|NM_001369936.1:c.1012-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||12/18|NM_001369937.1:c.1012-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||14/20|NM_001369938.1:c.1012-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||12/18|NM_001369939.1:c.1012-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||13/19|NM_001369940.1:c.1012-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||12/18|NM_001369941.1:c.1012-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||10/16|NM_001369942.1:c.820-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||11/17|NM_001369943.1:c.646-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||10/16|NM_001369944.1:c.646-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||13/19|NM_001369945.1:c.646-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||14/20|NM_001369946.1:c.646-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||10/16|NM_001369947.1:c.646-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||14/20|NM_001369948.1:c.646-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||12/18|NM_001369949.1:c.646-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||11/17|NM_001369950.1:c.646-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||13/19|NM_032204.5:c.1354-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||14/20|XM_011530442.4:c.1354-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||15/21|XM_011530443.3:c.1354-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||15/21|XM_011530444.3:c.1354-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||14/20|XM_011530445.3:c.1354-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||13/19|XM_011530448.3:c.1195-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||14/20|XM_011530453.3:c.1012-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||13/19|XM_011530454.3:c.1012-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||12/18|XM_011530455.3:c.1012-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||12/18|XM_024452287.2:c.1516-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||11/17|XM_024452288.2:c.1441-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||11/17|XM_024452289.2:c.1441-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||11/17|XM_024452290.2:c.1357-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||11/17|XM_024452291.2:c.1357-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||12/18|XM_047441538.1:c.1516-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||13/19|XM_047441539.1:c.1354-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||15/21|XM_047441540.1:c.1354-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||12/18|XM_047441541.1:c.1279-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||10/16|XM_047441542.1:c.1282-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||13/19|XM_047441543.1:c.1279-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||14/20|XM_047441544.1:c.1279-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||12/18|XM_047441545.1:c.1279-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||13/19|XM_047441546.1:c.1279-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||13/19|XM_047441547.1:c.1195-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||11/17|XM_047441548.1:c.937-293T>A|||||||rs9608815||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29802501A>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|40|-31|40|-29;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44772;gnomADv4_1_AC_joint_XX=23491;gnomADv4_1_AC_joint_XY=21281;gnomADv4_1_AF_grpmax_joint=0.467311;gnomADv4_1_AF_joint=0.29463;gnomADv4_1_AF_joint_XX=0.302392;gnomADv4_1_AF_joint_XY=0.286512;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=151960;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7716;gnomADv4_1_nhomalt_joint_XX=4195;gnomADv4_1_nhomalt_joint_XY=3521;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29802600 chr22_29802600_A_G A G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=3.853;CADD_Rawscore=0.352227;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||13/19|ENST00000307790.8:c.1354-392T>C|||||||rs12172139||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||14/20|ENST00000397771.6:c.1354-392T>C|||||||rs12172139||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29802600A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs12172139|498|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||14/20|ENST00000458594.5:c.*1364-392T>C|||||||rs12172139||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29802600A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||||||||||rs12172139|4236|-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.296+4197T>C|||||||rs12172139||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29802600A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs12172139|3614|-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29802600A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs12172139|3298|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||1/6|ENST00000487486.5:n.188-392T>C|||||||rs12172139||-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||12/18|ENST00000542393.5:c.1126-392T>C|||||||rs12172139||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||12/18|NM_001242906.2:c.1126-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||13/19|NM_001369920.1:c.1354-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||15/21|NM_001369921.1:c.1354-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||14/20|NM_001369922.1:c.1354-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||14/20|NM_001369923.1:c.1354-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||13/19|NM_001369924.1:c.1354-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||12/18|NM_001369925.1:c.1195-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||13/19|NM_001369926.1:c.1195-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||12/18|NM_001369927.1:c.1195-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||14/20|NM_001369928.1:c.1195-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||12/18|NM_001369929.1:c.1195-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||11/17|NM_001369930.1:c.1120-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||16/22|NM_001369931.1:c.1012-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||14/20|NM_001369932.1:c.1012-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||13/19|NM_001369933.1:c.1012-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||12/18|NM_001369934.1:c.1012-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||14/20|NM_001369935.1:c.1012-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||11/17|NM_001369936.1:c.1012-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||12/18|NM_001369937.1:c.1012-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||14/20|NM_001369938.1:c.1012-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||12/18|NM_001369939.1:c.1012-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||13/19|NM_001369940.1:c.1012-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||12/18|NM_001369941.1:c.1012-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||10/16|NM_001369942.1:c.820-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||11/17|NM_001369943.1:c.646-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||10/16|NM_001369944.1:c.646-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||13/19|NM_001369945.1:c.646-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||14/20|NM_001369946.1:c.646-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||10/16|NM_001369947.1:c.646-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||14/20|NM_001369948.1:c.646-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||12/18|NM_001369949.1:c.646-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||11/17|NM_001369950.1:c.646-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||13/19|NM_032204.5:c.1354-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||14/20|XM_011530442.4:c.1354-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||15/21|XM_011530443.3:c.1354-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||15/21|XM_011530444.3:c.1354-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||14/20|XM_011530445.3:c.1354-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||13/19|XM_011530448.3:c.1195-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||14/20|XM_011530453.3:c.1012-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||13/19|XM_011530454.3:c.1012-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||12/18|XM_011530455.3:c.1012-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||12/18|XM_024452287.2:c.1516-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||11/17|XM_024452288.2:c.1441-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||11/17|XM_024452289.2:c.1441-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||11/17|XM_024452290.2:c.1357-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||11/17|XM_024452291.2:c.1357-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||12/18|XM_047441538.1:c.1516-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||13/19|XM_047441539.1:c.1354-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||15/21|XM_047441540.1:c.1354-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||12/18|XM_047441541.1:c.1279-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||10/16|XM_047441542.1:c.1282-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||13/19|XM_047441543.1:c.1279-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||14/20|XM_047441544.1:c.1279-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||12/18|XM_047441545.1:c.1279-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||13/19|XM_047441546.1:c.1279-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||13/19|XM_047441547.1:c.1195-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||11/17|XM_047441548.1:c.937-392T>C|||||||rs12172139||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29802600A>G|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|29|9|-17|6;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8207;gnomADv4_1_AC_joint_XX=3903;gnomADv4_1_AC_joint_XY=4304;gnomADv4_1_AF_grpmax_joint=0.165214;gnomADv4_1_AF_joint=0.0539374;gnomADv4_1_AF_joint_XX=0.0501864;gnomADv4_1_AF_joint_XY=0.0578588;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=344;gnomADv4_1_nhomalt_joint_XX=152;gnomADv4_1_nhomalt_joint_XY=192;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29803095 chr22_29803095_C_T C T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=5.017;CADD_Rawscore=0.457397;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||13/19|ENST00000307790.8:c.1354-887G>A|||||||rs5997529||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||14/20|ENST00000397771.6:c.1354-887G>A|||||||rs5997529||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29803095C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs5997529|993|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||14/20|ENST00000458594.5:c.*1364-887G>A|||||||rs5997529||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29803095C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||||||||||rs5997529|3741|-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.296+3702G>A|||||||rs5997529||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29803095C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs5997529|3119|-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29803095C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs5997529|3793|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||1/6|ENST00000487486.5:n.188-887G>A|||||||rs5997529||-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||12/18|ENST00000542393.5:c.1126-887G>A|||||||rs5997529||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||12/18|NM_001242906.2:c.1126-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||13/19|NM_001369920.1:c.1354-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||15/21|NM_001369921.1:c.1354-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||14/20|NM_001369922.1:c.1354-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||14/20|NM_001369923.1:c.1354-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||13/19|NM_001369924.1:c.1354-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||12/18|NM_001369925.1:c.1195-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||13/19|NM_001369926.1:c.1195-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||12/18|NM_001369927.1:c.1195-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||14/20|NM_001369928.1:c.1195-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||12/18|NM_001369929.1:c.1195-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||11/17|NM_001369930.1:c.1120-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||16/22|NM_001369931.1:c.1012-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||14/20|NM_001369932.1:c.1012-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||13/19|NM_001369933.1:c.1012-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||12/18|NM_001369934.1:c.1012-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||14/20|NM_001369935.1:c.1012-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||11/17|NM_001369936.1:c.1012-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||12/18|NM_001369937.1:c.1012-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||14/20|NM_001369938.1:c.1012-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||12/18|NM_001369939.1:c.1012-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||13/19|NM_001369940.1:c.1012-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||12/18|NM_001369941.1:c.1012-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||10/16|NM_001369942.1:c.820-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||11/17|NM_001369943.1:c.646-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||10/16|NM_001369944.1:c.646-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||13/19|NM_001369945.1:c.646-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||14/20|NM_001369946.1:c.646-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||10/16|NM_001369947.1:c.646-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||14/20|NM_001369948.1:c.646-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||12/18|NM_001369949.1:c.646-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||11/17|NM_001369950.1:c.646-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||13/19|NM_032204.5:c.1354-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||14/20|XM_011530442.4:c.1354-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||15/21|XM_011530443.3:c.1354-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||15/21|XM_011530444.3:c.1354-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||14/20|XM_011530445.3:c.1354-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||13/19|XM_011530448.3:c.1195-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||14/20|XM_011530453.3:c.1012-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||13/19|XM_011530454.3:c.1012-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||12/18|XM_011530455.3:c.1012-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||12/18|XM_024452287.2:c.1516-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||11/17|XM_024452288.2:c.1441-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||11/17|XM_024452289.2:c.1441-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||11/17|XM_024452290.2:c.1357-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||11/17|XM_024452291.2:c.1357-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||12/18|XM_047441538.1:c.1516-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||13/19|XM_047441539.1:c.1354-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||15/21|XM_047441540.1:c.1354-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||12/18|XM_047441541.1:c.1279-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||10/16|XM_047441542.1:c.1282-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||13/19|XM_047441543.1:c.1279-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||14/20|XM_047441544.1:c.1279-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||12/18|XM_047441545.1:c.1279-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||13/19|XM_047441546.1:c.1279-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||13/19|XM_047441547.1:c.1195-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||11/17|XM_047441548.1:c.937-887G>A|||||||rs5997529||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29803095C>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|47|-16|12|47;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48754;gnomADv4_1_AC_joint_XX=25448;gnomADv4_1_AC_joint_XY=23306;gnomADv4_1_AF_grpmax_joint=0.586906;gnomADv4_1_AF_joint=0.322191;gnomADv4_1_AF_joint_XX=0.328684;gnomADv4_1_AF_joint_XY=0.315389;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=151320;gnomADv4_1_AN_joint_XX=77424;gnomADv4_1_AN_joint_XY=73896;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8694;gnomADv4_1_nhomalt_joint_XX=4660;gnomADv4_1_nhomalt_joint_XY=4034;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29803252 chr22_29803252_C_CA C CA 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=0.554;CADDIndel_Rawscore=-0.16747;CSQ=A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||13/19|ENST00000307790.8:c.1354-1045dup|||||||rs34793933||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||14/20|ENST00000397771.6:c.1354-1045dup|||||||rs34793933||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29803262dup|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs34793933|1150|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||14/20|ENST00000458594.5:c.*1364-1045dup|||||||rs34793933||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29803262dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||||||||||rs34793933|3583|-1||HGNC|HGNC:24103|4||||||||Ensembl|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.296+3544dup|||||||rs34793933||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29803262dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs34793933|2961|-1||HGNC|HGNC:24103|5||||||||Ensembl|||||||chr22:g.29803262dup|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs34793933|3950|-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||1/6|ENST00000487486.5:n.188-1045dup|||||||rs34793933||-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||12/18|ENST00000542393.5:c.1126-1045dup|||||||rs34793933||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||12/18|NM_001242906.2:c.1126-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||13/19|NM_001369920.1:c.1354-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||15/21|NM_001369921.1:c.1354-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||14/20|NM_001369922.1:c.1354-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||14/20|NM_001369923.1:c.1354-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||13/19|NM_001369924.1:c.1354-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||12/18|NM_001369925.1:c.1195-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||13/19|NM_001369926.1:c.1195-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||12/18|NM_001369927.1:c.1195-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||14/20|NM_001369928.1:c.1195-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||12/18|NM_001369929.1:c.1195-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||11/17|NM_001369930.1:c.1120-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||16/22|NM_001369931.1:c.1012-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||14/20|NM_001369932.1:c.1012-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||13/19|NM_001369933.1:c.1012-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||12/18|NM_001369934.1:c.1012-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||14/20|NM_001369935.1:c.1012-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||11/17|NM_001369936.1:c.1012-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||12/18|NM_001369937.1:c.1012-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||14/20|NM_001369938.1:c.1012-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||12/18|NM_001369939.1:c.1012-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||13/19|NM_001369940.1:c.1012-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||12/18|NM_001369941.1:c.1012-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||10/16|NM_001369942.1:c.820-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||11/17|NM_001369943.1:c.646-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||10/16|NM_001369944.1:c.646-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||13/19|NM_001369945.1:c.646-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||14/20|NM_001369946.1:c.646-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||10/16|NM_001369947.1:c.646-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||14/20|NM_001369948.1:c.646-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||12/18|NM_001369949.1:c.646-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||11/17|NM_001369950.1:c.646-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||13/19|NM_032204.5:c.1354-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||14/20|XM_011530442.4:c.1354-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||15/21|XM_011530443.3:c.1354-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||15/21|XM_011530444.3:c.1354-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||14/20|XM_011530445.3:c.1354-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||13/19|XM_011530448.3:c.1195-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||14/20|XM_011530453.3:c.1012-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||13/19|XM_011530454.3:c.1012-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||12/18|XM_011530455.3:c.1012-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||12/18|XM_024452287.2:c.1516-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||11/17|XM_024452288.2:c.1441-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||11/17|XM_024452289.2:c.1441-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||11/17|XM_024452290.2:c.1357-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||11/17|XM_024452291.2:c.1357-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||12/18|XM_047441538.1:c.1516-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||13/19|XM_047441539.1:c.1354-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||15/21|XM_047441540.1:c.1354-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||12/18|XM_047441541.1:c.1279-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||10/16|XM_047441542.1:c.1282-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||13/19|XM_047441543.1:c.1279-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||14/20|XM_047441544.1:c.1279-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||12/18|XM_047441545.1:c.1279-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||13/19|XM_047441546.1:c.1279-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||13/19|XM_047441547.1:c.1195-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||11/17|XM_047441548.1:c.937-1045dup|||||||rs34793933||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq|||||||chr22:g.29803262dup|||||||||||||;SpliceAI=CA|ASCC2|0.00|0.00|0.00|0.00|-10|-4|-29|-42;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=95449;gnomADv4_1_AC_joint_XX=49435;gnomADv4_1_AC_joint_XY=46014;gnomADv4_1_AF_grpmax_joint=0.833928;gnomADv4_1_AF_joint=0.656865;gnomADv4_1_AF_joint_XX=0.660419;gnomADv4_1_AF_joint_XY=0.653088;gnomADv4_1_AN_grpmax_joint=5046;gnomADv4_1_AN_joint=145310;gnomADv4_1_AN_joint_XX=74854;gnomADv4_1_AN_joint_XY=70456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=31215;gnomADv4_1_nhomalt_joint_XX=16312;gnomADv4_1_nhomalt_joint_XY=14903;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29803937 chr22_29803937_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.13;CADD_Rawscore=0.013998;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||13/19|ENST00000307790.8:c.1353+701G>A|||||||rs12485243||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||14/20|ENST00000397771.6:c.1353+701G>A|||||||rs12485243||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29803937C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs12485243|1835|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||14/20|ENST00000458594.5:c.*1363+701G>A|||||||rs12485243||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29803937C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||||||||||rs12485243|2899|-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.296+2860G>A|||||||rs12485243||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29803937C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs12485243|2277|-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29803937C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs12485243|4635|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||1/6|ENST00000487486.5:n.187+701G>A|||||||rs12485243||-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||12/18|ENST00000542393.5:c.1125+701G>A|||||||rs12485243||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||12/18|NM_001242906.2:c.1125+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||13/19|NM_001369920.1:c.1353+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||15/21|NM_001369921.1:c.1353+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||14/20|NM_001369922.1:c.1353+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||14/20|NM_001369923.1:c.1353+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||13/19|NM_001369924.1:c.1353+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||12/18|NM_001369925.1:c.1194+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||13/19|NM_001369926.1:c.1194+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||12/18|NM_001369927.1:c.1194+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||14/20|NM_001369928.1:c.1194+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||12/18|NM_001369929.1:c.1194+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||11/17|NM_001369930.1:c.1119+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||16/22|NM_001369931.1:c.1011+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||14/20|NM_001369932.1:c.1011+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||13/19|NM_001369933.1:c.1011+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||12/18|NM_001369934.1:c.1011+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||14/20|NM_001369935.1:c.1011+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||11/17|NM_001369936.1:c.1011+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||12/18|NM_001369937.1:c.1011+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||14/20|NM_001369938.1:c.1011+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||12/18|NM_001369939.1:c.1011+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||13/19|NM_001369940.1:c.1011+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||12/18|NM_001369941.1:c.1011+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||10/16|NM_001369942.1:c.819+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||11/17|NM_001369943.1:c.645+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||10/16|NM_001369944.1:c.645+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||13/19|NM_001369945.1:c.645+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||14/20|NM_001369946.1:c.645+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||10/16|NM_001369947.1:c.645+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||14/20|NM_001369948.1:c.645+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||12/18|NM_001369949.1:c.645+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||11/17|NM_001369950.1:c.645+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||13/19|NM_032204.5:c.1353+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||14/20|XM_011530442.4:c.1353+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||15/21|XM_011530443.3:c.1353+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||15/21|XM_011530444.3:c.1353+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||14/20|XM_011530445.3:c.1353+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||13/19|XM_011530448.3:c.1194+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||14/20|XM_011530453.3:c.1011+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||13/19|XM_011530454.3:c.1011+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||12/18|XM_011530455.3:c.1011+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||12/18|XM_024452287.2:c.1515+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||11/17|XM_024452288.2:c.1440+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||11/17|XM_024452289.2:c.1440+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||11/17|XM_024452290.2:c.1356+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||11/17|XM_024452291.2:c.1356+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||12/18|XM_047441538.1:c.1515+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||13/19|XM_047441539.1:c.1353+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||15/21|XM_047441540.1:c.1353+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||12/18|XM_047441541.1:c.1278+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||10/16|XM_047441542.1:c.1281+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||13/19|XM_047441543.1:c.1278+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||14/20|XM_047441544.1:c.1278+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||12/18|XM_047441545.1:c.1278+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||13/19|XM_047441546.1:c.1278+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||13/19|XM_047441547.1:c.1194+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||11/17|XM_047441548.1:c.936+701G>A|||||||rs12485243||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29803937C>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.01|0.00|32|0|33|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19813;gnomADv4_1_AC_joint_XX=9981;gnomADv4_1_AC_joint_XY=9832;gnomADv4_1_AF_grpmax_joint=0.241194;gnomADv4_1_AF_joint=0.130155;gnomADv4_1_AF_joint_XX=0.128281;gnomADv4_1_AF_joint_XY=0.132115;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152226;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1501;gnomADv4_1_nhomalt_joint_XX=772;gnomADv4_1_nhomalt_joint_XY=729;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29804110 chr22_29804110_A_G A G 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=4.027;CADD_Rawscore=0.36763;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||13/19|ENST00000307790.8:c.1353+528T>C|||||||rs740041||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||14/20|ENST00000397771.6:c.1353+528T>C|||||||rs740041||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29804110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs740041|2008|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||14/20|ENST00000458594.5:c.*1363+528T>C|||||||rs740041||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29804110A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||||||||||rs740041|2726|-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.296+2687T>C|||||||rs740041||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29804110A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs740041|2104|-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29804110A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000483380|protein_coding_CDS_not_defined||||||||||rs740041|4808|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||1/6|ENST00000487486.5:n.187+528T>C|||||||rs740041||-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||12/18|ENST00000542393.5:c.1125+528T>C|||||||rs740041||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||12/18|NM_001242906.2:c.1125+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||13/19|NM_001369920.1:c.1353+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||15/21|NM_001369921.1:c.1353+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||14/20|NM_001369922.1:c.1353+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||14/20|NM_001369923.1:c.1353+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||13/19|NM_001369924.1:c.1353+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||12/18|NM_001369925.1:c.1194+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||13/19|NM_001369926.1:c.1194+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||12/18|NM_001369927.1:c.1194+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||14/20|NM_001369928.1:c.1194+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||12/18|NM_001369929.1:c.1194+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||11/17|NM_001369930.1:c.1119+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||16/22|NM_001369931.1:c.1011+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||14/20|NM_001369932.1:c.1011+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||13/19|NM_001369933.1:c.1011+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||12/18|NM_001369934.1:c.1011+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||14/20|NM_001369935.1:c.1011+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||11/17|NM_001369936.1:c.1011+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||12/18|NM_001369937.1:c.1011+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||14/20|NM_001369938.1:c.1011+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||12/18|NM_001369939.1:c.1011+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||13/19|NM_001369940.1:c.1011+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||12/18|NM_001369941.1:c.1011+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||10/16|NM_001369942.1:c.819+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||11/17|NM_001369943.1:c.645+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||10/16|NM_001369944.1:c.645+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||13/19|NM_001369945.1:c.645+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||14/20|NM_001369946.1:c.645+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||10/16|NM_001369947.1:c.645+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||14/20|NM_001369948.1:c.645+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||12/18|NM_001369949.1:c.645+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||11/17|NM_001369950.1:c.645+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||13/19|NM_032204.5:c.1353+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||14/20|XM_011530442.4:c.1353+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||15/21|XM_011530443.3:c.1353+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||15/21|XM_011530444.3:c.1353+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||14/20|XM_011530445.3:c.1353+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||13/19|XM_011530448.3:c.1194+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||14/20|XM_011530453.3:c.1011+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||13/19|XM_011530454.3:c.1011+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||12/18|XM_011530455.3:c.1011+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||12/18|XM_024452287.2:c.1515+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||11/17|XM_024452288.2:c.1440+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||11/17|XM_024452289.2:c.1440+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||11/17|XM_024452290.2:c.1356+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||11/17|XM_024452291.2:c.1356+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||12/18|XM_047441538.1:c.1515+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||13/19|XM_047441539.1:c.1353+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||15/21|XM_047441540.1:c.1353+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||12/18|XM_047441541.1:c.1278+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||10/16|XM_047441542.1:c.1281+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||13/19|XM_047441543.1:c.1278+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||14/20|XM_047441544.1:c.1278+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||12/18|XM_047441545.1:c.1278+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||13/19|XM_047441546.1:c.1278+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||13/19|XM_047441547.1:c.1194+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||11/17|XM_047441548.1:c.936+528T>C|||||||rs740041||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29804110A>G|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|22|14|-43|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000483380,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47512;gnomADv4_1_AC_joint_XX=24748;gnomADv4_1_AC_joint_XY=22764;gnomADv4_1_AF_grpmax_joint=0.58588;gnomADv4_1_AF_joint=0.312193;gnomADv4_1_AF_joint_XX=0.31813;gnomADv4_1_AF_joint_XY=0.305984;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152188;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8538;gnomADv4_1_nhomalt_joint_XX=4564;gnomADv4_1_nhomalt_joint_XY=3974;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29804373 chr22_29804373_C_G C G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.749;CADD_Rawscore=0.528012;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||13/19|ENST00000307790.8:c.1353+265G>C|||||||rs81800||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||14/20|ENST00000397771.6:c.1353+265G>C|||||||rs81800||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29804373C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs81800|2271|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||14/20|ENST00000458594.5:c.*1363+265G>C|||||||rs81800||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29804373C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||||||||||rs81800|2463|-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.296+2424G>C|||||||rs81800||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29804373C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs81800|1841|-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||1/6|ENST00000487486.5:n.187+265G>C|||||||rs81800||-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||12/18|ENST00000542393.5:c.1125+265G>C|||||||rs81800||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||12/18|NM_001242906.2:c.1125+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||13/19|NM_001369920.1:c.1353+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||15/21|NM_001369921.1:c.1353+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||14/20|NM_001369922.1:c.1353+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||14/20|NM_001369923.1:c.1353+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||13/19|NM_001369924.1:c.1353+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||12/18|NM_001369925.1:c.1194+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||13/19|NM_001369926.1:c.1194+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||12/18|NM_001369927.1:c.1194+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||14/20|NM_001369928.1:c.1194+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||12/18|NM_001369929.1:c.1194+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||11/17|NM_001369930.1:c.1119+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||16/22|NM_001369931.1:c.1011+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||14/20|NM_001369932.1:c.1011+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||13/19|NM_001369933.1:c.1011+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||12/18|NM_001369934.1:c.1011+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||14/20|NM_001369935.1:c.1011+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||11/17|NM_001369936.1:c.1011+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||12/18|NM_001369937.1:c.1011+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||14/20|NM_001369938.1:c.1011+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||12/18|NM_001369939.1:c.1011+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||13/19|NM_001369940.1:c.1011+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||12/18|NM_001369941.1:c.1011+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||10/16|NM_001369942.1:c.819+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||11/17|NM_001369943.1:c.645+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||10/16|NM_001369944.1:c.645+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||13/19|NM_001369945.1:c.645+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||14/20|NM_001369946.1:c.645+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||10/16|NM_001369947.1:c.645+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||14/20|NM_001369948.1:c.645+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||12/18|NM_001369949.1:c.645+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||11/17|NM_001369950.1:c.645+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||13/19|NM_032204.5:c.1353+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||14/20|XM_011530442.4:c.1353+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||15/21|XM_011530443.3:c.1353+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||15/21|XM_011530444.3:c.1353+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||14/20|XM_011530445.3:c.1353+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||13/19|XM_011530448.3:c.1194+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||14/20|XM_011530453.3:c.1011+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||13/19|XM_011530454.3:c.1011+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||12/18|XM_011530455.3:c.1011+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||12/18|XM_024452287.2:c.1515+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||11/17|XM_024452288.2:c.1440+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||11/17|XM_024452289.2:c.1440+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||11/17|XM_024452290.2:c.1356+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||11/17|XM_024452291.2:c.1356+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||12/18|XM_047441538.1:c.1515+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||13/19|XM_047441539.1:c.1353+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||15/21|XM_047441540.1:c.1353+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||12/18|XM_047441541.1:c.1278+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||10/16|XM_047441542.1:c.1281+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||13/19|XM_047441543.1:c.1278+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||14/20|XM_047441544.1:c.1278+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||12/18|XM_047441545.1:c.1278+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||13/19|XM_047441546.1:c.1278+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||13/19|XM_047441547.1:c.1194+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||11/17|XM_047441548.1:c.936+265G>C|||||||rs81800||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29804373C>G|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|-27|4|0|-15;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64418;gnomADv4_1_AC_joint_XX=33627;gnomADv4_1_AC_joint_XY=30791;gnomADv4_1_AF_grpmax_joint=0.584887;gnomADv4_1_AF_joint=0.423892;gnomADv4_1_AF_joint_XX=0.43268;gnomADv4_1_AF_joint_XY=0.414694;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=151968;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14138;gnomADv4_1_nhomalt_joint_XX=7554;gnomADv4_1_nhomalt_joint_XY=6584;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29804904 chr22_29804904_G_C G C 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=9.105;CADD_Rawscore=0.884463;CSQ=C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||12/19|ENST00000307790.8:c.1161-74C>G|||||||rs2074706||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||13/20|ENST00000397771.6:c.1161-74C>G|||||||rs2074706||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29804904G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs2074706|2802|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||13/20|ENST00000458594.5:c.*1171-74C>G|||||||rs2074706||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29804904G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||||||||||rs2074706|1932|-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.296+1893C>G|||||||rs2074706||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29804904G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs2074706|1310|-1||HGNC|HGNC:24103|5||||||||Ensembl||G|G||||chr22:g.29804904G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||||||||||rs2074706|80|-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||11/18|ENST00000542393.5:c.933-74C>G|||||||rs2074706||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||11/18|NM_001242906.2:c.933-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||12/19|NM_001369920.1:c.1161-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||14/21|NM_001369921.1:c.1161-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||13/20|NM_001369922.1:c.1161-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||13/20|NM_001369923.1:c.1161-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||12/19|NM_001369924.1:c.1161-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||11/18|NM_001369925.1:c.1002-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||12/19|NM_001369926.1:c.1002-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||11/18|NM_001369927.1:c.1002-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||13/20|NM_001369928.1:c.1002-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||11/18|NM_001369929.1:c.1002-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||10/17|NM_001369930.1:c.927-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||15/22|NM_001369931.1:c.819-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||13/20|NM_001369932.1:c.819-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||12/19|NM_001369933.1:c.819-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||11/18|NM_001369934.1:c.819-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||13/20|NM_001369935.1:c.819-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||10/17|NM_001369936.1:c.819-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||11/18|NM_001369937.1:c.819-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||13/20|NM_001369938.1:c.819-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||11/18|NM_001369939.1:c.819-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||12/19|NM_001369940.1:c.819-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||11/18|NM_001369941.1:c.819-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||9/16|NM_001369942.1:c.627-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||10/17|NM_001369943.1:c.453-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||9/16|NM_001369944.1:c.453-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||12/19|NM_001369945.1:c.453-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||13/20|NM_001369946.1:c.453-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||9/16|NM_001369947.1:c.453-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||13/20|NM_001369948.1:c.453-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||11/18|NM_001369949.1:c.453-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||10/17|NM_001369950.1:c.453-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||12/19|NM_032204.5:c.1161-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||13/20|XM_011530442.4:c.1161-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||14/21|XM_011530443.3:c.1161-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||14/21|XM_011530444.3:c.1161-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||13/20|XM_011530445.3:c.1161-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||12/19|XM_011530448.3:c.1002-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||13/20|XM_011530453.3:c.819-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||12/19|XM_011530454.3:c.819-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||11/18|XM_011530455.3:c.819-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||11/18|XM_024452287.2:c.1323-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||10/17|XM_024452288.2:c.1248-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||10/17|XM_024452289.2:c.1248-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||10/17|XM_024452290.2:c.1164-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||10/17|XM_024452291.2:c.1164-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||11/18|XM_047441538.1:c.1323-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||12/19|XM_047441539.1:c.1161-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||14/21|XM_047441540.1:c.1161-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||11/18|XM_047441541.1:c.1086-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||9/16|XM_047441542.1:c.1089-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||12/19|XM_047441543.1:c.1086-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||13/20|XM_047441544.1:c.1086-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||11/18|XM_047441545.1:c.1086-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||12/19|XM_047441546.1:c.1086-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||12/19|XM_047441547.1:c.1002-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||10/17|XM_047441548.1:c.744-74C>G|||||||rs2074706||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||G|G||||chr22:g.29804904G>C|||||||||||||;SpliceAI=C|ASCC2|0.00|0.00|0.00|0.00|-48|-33|1|9;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=554513;gnomADv4_1_AC_joint_XX=284200;gnomADv4_1_AC_joint_XY=270313;gnomADv4_1_AF_grpmax_joint=0.644063;gnomADv4_1_AF_joint=0.36969;gnomADv4_1_AF_joint_XX=0.375331;gnomADv4_1_AF_joint_XY=0.363939;gnomADv4_1_AN_grpmax_joint=44064;gnomADv4_1_AN_joint=1499940;gnomADv4_1_AN_joint_XX=757198;gnomADv4_1_AN_joint_XY=742742;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=108913;gnomADv4_1_nhomalt_joint_XX=56184;gnomADv4_1_nhomalt_joint_XY=52729;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29804947 chr22_29804947_T_C T C 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.585;CADD_Rawscore=-0.154085;CSQ=C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||12/19|ENST00000307790.8:c.1161-117A>G|||||||rs36572||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||13/20|ENST00000397771.6:c.1161-117A>G|||||||rs36572||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29804947T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs36572|2845|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||13/20|ENST00000458594.5:c.*1171-117A>G|||||||rs36572||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||T|T||||chr22:g.29804947T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||||||||||rs36572|1889|-1||HGNC|HGNC:24103|4||||||||Ensembl||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.296+1850A>G|||||||rs36572||-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29804947T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs36572|1267|-1||HGNC|HGNC:24103|5||||||||Ensembl||T|T||||chr22:g.29804947T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||||||||||rs36572|123|-1||HGNC|HGNC:24103|2||||||||Ensembl||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||11/18|ENST00000542393.5:c.933-117A>G|||||||rs36572||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||11/18|NM_001242906.2:c.933-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||12/19|NM_001369920.1:c.1161-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||14/21|NM_001369921.1:c.1161-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||13/20|NM_001369922.1:c.1161-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||13/20|NM_001369923.1:c.1161-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||12/19|NM_001369924.1:c.1161-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||11/18|NM_001369925.1:c.1002-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||12/19|NM_001369926.1:c.1002-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||11/18|NM_001369927.1:c.1002-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||13/20|NM_001369928.1:c.1002-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||11/18|NM_001369929.1:c.1002-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||10/17|NM_001369930.1:c.927-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||15/22|NM_001369931.1:c.819-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||13/20|NM_001369932.1:c.819-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||12/19|NM_001369933.1:c.819-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||11/18|NM_001369934.1:c.819-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||13/20|NM_001369935.1:c.819-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||10/17|NM_001369936.1:c.819-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||11/18|NM_001369937.1:c.819-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||13/20|NM_001369938.1:c.819-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||11/18|NM_001369939.1:c.819-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||12/19|NM_001369940.1:c.819-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||11/18|NM_001369941.1:c.819-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||9/16|NM_001369942.1:c.627-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||10/17|NM_001369943.1:c.453-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||9/16|NM_001369944.1:c.453-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||12/19|NM_001369945.1:c.453-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||13/20|NM_001369946.1:c.453-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||9/16|NM_001369947.1:c.453-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||13/20|NM_001369948.1:c.453-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||11/18|NM_001369949.1:c.453-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||10/17|NM_001369950.1:c.453-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||12/19|NM_032204.5:c.1161-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||13/20|XM_011530442.4:c.1161-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||14/21|XM_011530443.3:c.1161-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||14/21|XM_011530444.3:c.1161-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||13/20|XM_011530445.3:c.1161-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||12/19|XM_011530448.3:c.1002-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||13/20|XM_011530453.3:c.819-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||12/19|XM_011530454.3:c.819-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||11/18|XM_011530455.3:c.819-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||11/18|XM_024452287.2:c.1323-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||10/17|XM_024452288.2:c.1248-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||10/17|XM_024452289.2:c.1248-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||10/17|XM_024452290.2:c.1164-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||10/17|XM_024452291.2:c.1164-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||11/18|XM_047441538.1:c.1323-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||12/19|XM_047441539.1:c.1161-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||14/21|XM_047441540.1:c.1161-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||11/18|XM_047441541.1:c.1086-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||9/16|XM_047441542.1:c.1089-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||12/19|XM_047441543.1:c.1086-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||13/20|XM_047441544.1:c.1086-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||11/18|XM_047441545.1:c.1086-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||12/19|XM_047441546.1:c.1086-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||12/19|XM_047441547.1:c.1002-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||10/17|XM_047441548.1:c.744-117A>G|||||||rs36572||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||T|T||||chr22:g.29804947T>C|||||||||||||;SpliceAI=C|ASCC2|0.00|0.00|0.00|0.00|0|29|1|25;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=596913;gnomADv4_1_AC_joint_XX=301206;gnomADv4_1_AC_joint_XY=295707;gnomADv4_1_AF_grpmax_joint=0.716411;gnomADv4_1_AF_joint=0.523254;gnomADv4_1_AF_joint_XX=0.532582;gnomADv4_1_AF_joint_XY=0.514084;gnomADv4_1_AN_grpmax_joint=42424;gnomADv4_1_AN_joint=1140770;gnomADv4_1_AN_joint_XX=565558;gnomADv4_1_AN_joint_XY=575212;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=161830;gnomADv4_1_nhomalt_joint_XX=82480;gnomADv4_1_nhomalt_joint_XY=79350;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29806785 chr22_29806785_G_C G C 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=5.393;CADD_Rawscore=0.493184;CSQ=C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||10/19|ENST00000307790.8:c.1016+12C>G|||||||rs737945||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||11/20|ENST00000397771.6:c.1016+12C>G|||||||rs737945||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29806785G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000411532|protein_coding||||||||||rs737945|4683|-1|cds_start_NF&cds_end_NF|HGNC|HGNC:24103|5||ENSP00000414545||H7C3Y4.50|UPI000173A319|||Ensembl||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||11/20|ENST00000458594.5:c.*1026+12C>G|||||||rs737945||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29806785G>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||||||||||rs737945|51|-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||3/3|ENST00000472433.5:n.296+12C>G|||||||rs737945||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||7/8|ENST00000478812.5:n.681+12C>G|||||||rs737945||-1||HGNC|HGNC:24103|5||||||||Ensembl||G|G||||chr22:g.29806785G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||||||||||rs737945|1961|-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||9/18|ENST00000542393.5:c.788+12C>G|||||||rs737945||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||9/18|NM_001242906.2:c.788+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||10/19|NM_001369920.1:c.1016+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||12/21|NM_001369921.1:c.1016+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||11/20|NM_001369922.1:c.1016+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||11/20|NM_001369923.1:c.1016+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||10/19|NM_001369924.1:c.1016+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||9/18|NM_001369925.1:c.857+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||10/19|NM_001369926.1:c.857+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||9/18|NM_001369927.1:c.857+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||11/20|NM_001369928.1:c.857+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||9/18|NM_001369929.1:c.857+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||8/17|NM_001369930.1:c.782+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||13/22|NM_001369931.1:c.674+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||11/20|NM_001369932.1:c.674+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||10/19|NM_001369933.1:c.674+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||9/18|NM_001369934.1:c.674+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||11/20|NM_001369935.1:c.674+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||8/17|NM_001369936.1:c.674+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||9/18|NM_001369937.1:c.674+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||11/20|NM_001369938.1:c.674+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||9/18|NM_001369939.1:c.674+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||10/19|NM_001369940.1:c.674+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||9/18|NM_001369941.1:c.674+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||7/16|NM_001369942.1:c.482+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||8/17|NM_001369943.1:c.308+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||7/16|NM_001369944.1:c.308+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||10/19|NM_001369945.1:c.308+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||11/20|NM_001369946.1:c.308+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||7/16|NM_001369947.1:c.308+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||11/20|NM_001369948.1:c.308+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||9/18|NM_001369949.1:c.308+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||8/17|NM_001369950.1:c.308+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||10/19|NM_032204.5:c.1016+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||11/20|XM_011530442.4:c.1016+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||12/21|XM_011530443.3:c.1016+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||12/21|XM_011530444.3:c.1016+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||11/20|XM_011530445.3:c.1016+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||10/19|XM_011530448.3:c.857+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||11/20|XM_011530453.3:c.674+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||10/19|XM_011530454.3:c.674+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||9/18|XM_011530455.3:c.674+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||9/18|XM_024452287.2:c.1178+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||8/17|XM_024452288.2:c.1103+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||8/17|XM_024452289.2:c.1103+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||8/17|XM_024452290.2:c.1019+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||8/17|XM_024452291.2:c.1019+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||9/18|XM_047441538.1:c.1178+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||10/19|XM_047441539.1:c.1016+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||12/21|XM_047441540.1:c.1016+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||9/18|XM_047441541.1:c.941+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||7/16|XM_047441542.1:c.944+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||10/19|XM_047441543.1:c.941+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||11/20|XM_047441544.1:c.941+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||9/18|XM_047441545.1:c.941+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||10/19|XM_047441546.1:c.941+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||10/19|XM_047441547.1:c.857+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||8/17|XM_047441548.1:c.599+12C>G|||||||rs737945||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||G|G||||chr22:g.29806785G>C|||1||||||||||;SpliceAI=C|ASCC2|0.00|0.00|0.00|0.00|18|40|16|12;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000411532,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=708615;gnomADv4_1_AC_joint_XX=361156;gnomADv4_1_AC_joint_XY=347459;gnomADv4_1_AF_grpmax_joint=0.715157;gnomADv4_1_AF_joint=0.443375;gnomADv4_1_AF_joint_XX=0.449508;gnomADv4_1_AF_joint_XY=0.437175;gnomADv4_1_AN_grpmax_joint=44772;gnomADv4_1_AN_joint=1598230;gnomADv4_1_AN_joint_XX=803448;gnomADv4_1_AN_joint_XY=794782;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=161433;gnomADv4_1_nhomalt_joint_XX=82892;gnomADv4_1_nhomalt_joint_XY=78541;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29807610 chr22_29807610_C_G C G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=18.47;CADD_Rawscore=2.37936;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||9/19|ENST00000307790.8:c.908+501G>C|||||||rs5997530||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||10/20|ENST00000397771.6:c.908+501G>C|||||||rs5997530||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||10/20|ENST00000458594.5:c.*918+501G>C|||||||rs5997530||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||2/2|ENST00000464287.1:n.469+501G>C|||||||rs5997530||-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||2/3|ENST00000472433.5:n.188+501G>C|||||||rs5997530||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||6/8|ENST00000478812.5:n.573+501G>C|||||||rs5997530||-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29807610C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||||||||||rs5997530|2786|-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||8/18|ENST00000542393.5:c.680+501G>C|||||||rs5997530||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||8/18|NM_001242906.2:c.680+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||9/19|NM_001369920.1:c.908+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||11/21|NM_001369921.1:c.908+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||10/20|NM_001369922.1:c.908+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||10/20|NM_001369923.1:c.908+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||9/19|NM_001369924.1:c.908+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||8/18|NM_001369925.1:c.749+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||9/19|NM_001369926.1:c.749+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||8/18|NM_001369927.1:c.749+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||10/20|NM_001369928.1:c.749+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||8/18|NM_001369929.1:c.749+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||7/17|NM_001369930.1:c.675-706G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||12/22|NM_001369931.1:c.566+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||10/20|NM_001369932.1:c.566+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||9/19|NM_001369933.1:c.566+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||8/18|NM_001369934.1:c.566+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||10/20|NM_001369935.1:c.566+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||7/17|NM_001369936.1:c.566+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||8/18|NM_001369937.1:c.566+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||10/20|NM_001369938.1:c.566+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||8/18|NM_001369939.1:c.566+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||9/19|NM_001369940.1:c.566+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||8/18|NM_001369941.1:c.566+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||6/16|NM_001369942.1:c.374+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||7/17|NM_001369943.1:c.200+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||6/16|NM_001369944.1:c.200+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||9/19|NM_001369945.1:c.200+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||10/20|NM_001369946.1:c.200+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||6/16|NM_001369947.1:c.200+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||10/20|NM_001369948.1:c.200+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||8/18|NM_001369949.1:c.200+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||7/17|NM_001369950.1:c.200+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||9/19|NM_032204.5:c.908+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||10/20|XM_011530442.4:c.908+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||11/21|XM_011530443.3:c.908+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||11/21|XM_011530444.3:c.908+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||10/20|XM_011530445.3:c.908+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||9/19|XM_011530448.3:c.749+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||10/20|XM_011530453.3:c.566+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||9/19|XM_011530454.3:c.566+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||8/18|XM_011530455.3:c.566+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||8/18|XM_024452287.2:c.1070+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||7/17|XM_024452288.2:c.996-706G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||7/17|XM_024452289.2:c.996-706G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||7/17|XM_024452290.2:c.911+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||7/17|XM_024452291.2:c.911+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||8/18|XM_047441538.1:c.1070+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||9/19|XM_047441539.1:c.908+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||11/21|XM_047441540.1:c.908+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||8/18|XM_047441541.1:c.834-706G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||6/16|XM_047441542.1:c.837-706G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||9/19|XM_047441543.1:c.834-706G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||10/20|XM_047441544.1:c.834-706G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||8/18|XM_047441545.1:c.834-706G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||9/19|XM_047441546.1:c.834-706G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||9/19|XM_047441547.1:c.749+501G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||7/17|XM_047441548.1:c.492-706G>C|||||||rs5997530||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29807610C>G|||||||||||||;SpliceAI=G|ASCC2|0.21|0.00|0.12|0.00|39|-1|-1|-47;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49460;gnomADv4_1_AC_joint_XX=25780;gnomADv4_1_AC_joint_XY=23680;gnomADv4_1_AF_grpmax_joint=0.58652;gnomADv4_1_AF_joint=0.325258;gnomADv4_1_AF_joint_XX=0.331635;gnomADv4_1_AF_joint_XY=0.318588;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8869;gnomADv4_1_nhomalt_joint_XX=4740;gnomADv4_1_nhomalt_joint_XY=4129;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29807853 chr22_29807853_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=7.273;CADD_Rawscore=0.687897;CSQ=A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||9/19|ENST00000307790.8:c.908+258C>T|||||||rs2079338||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||10/20|ENST00000397771.6:c.908+258C>T|||||||rs2079338||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||10/20|ENST00000458594.5:c.*918+258C>T|||||||rs2079338||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||2/2|ENST00000464287.1:n.469+258C>T|||||||rs2079338||-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||2/3|ENST00000472433.5:n.188+258C>T|||||||rs2079338||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||6/8|ENST00000478812.5:n.573+258C>T|||||||rs2079338||-1||HGNC|HGNC:24103|5||||||||Ensembl||G|G||||chr22:g.29807853G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||||||||||rs2079338|3029|-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||8/18|ENST00000542393.5:c.680+258C>T|||||||rs2079338||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||8/18|NM_001242906.2:c.680+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||9/19|NM_001369920.1:c.908+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||11/21|NM_001369921.1:c.908+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||10/20|NM_001369922.1:c.908+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||10/20|NM_001369923.1:c.908+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||9/19|NM_001369924.1:c.908+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||8/18|NM_001369925.1:c.749+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||9/19|NM_001369926.1:c.749+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||8/18|NM_001369927.1:c.749+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||10/20|NM_001369928.1:c.749+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||8/18|NM_001369929.1:c.749+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||7/17|NM_001369930.1:c.675-949C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||12/22|NM_001369931.1:c.566+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||10/20|NM_001369932.1:c.566+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||9/19|NM_001369933.1:c.566+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||8/18|NM_001369934.1:c.566+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||10/20|NM_001369935.1:c.566+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||7/17|NM_001369936.1:c.566+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||8/18|NM_001369937.1:c.566+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||10/20|NM_001369938.1:c.566+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||8/18|NM_001369939.1:c.566+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||9/19|NM_001369940.1:c.566+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||8/18|NM_001369941.1:c.566+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||6/16|NM_001369942.1:c.374+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||7/17|NM_001369943.1:c.200+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||6/16|NM_001369944.1:c.200+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||9/19|NM_001369945.1:c.200+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||10/20|NM_001369946.1:c.200+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||6/16|NM_001369947.1:c.200+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||10/20|NM_001369948.1:c.200+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||8/18|NM_001369949.1:c.200+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||7/17|NM_001369950.1:c.200+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||9/19|NM_032204.5:c.908+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||10/20|XM_011530442.4:c.908+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||11/21|XM_011530443.3:c.908+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||11/21|XM_011530444.3:c.908+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||10/20|XM_011530445.3:c.908+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||9/19|XM_011530448.3:c.749+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||10/20|XM_011530453.3:c.566+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||9/19|XM_011530454.3:c.566+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||8/18|XM_011530455.3:c.566+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||8/18|XM_024452287.2:c.1070+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||7/17|XM_024452288.2:c.996-949C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||7/17|XM_024452289.2:c.996-949C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||7/17|XM_024452290.2:c.911+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||7/17|XM_024452291.2:c.911+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||8/18|XM_047441538.1:c.1070+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||9/19|XM_047441539.1:c.908+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||11/21|XM_047441540.1:c.908+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||8/18|XM_047441541.1:c.834-949C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||6/16|XM_047441542.1:c.837-949C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||9/19|XM_047441543.1:c.834-949C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||10/20|XM_047441544.1:c.834-949C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||8/18|XM_047441545.1:c.834-949C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||9/19|XM_047441546.1:c.834-949C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||9/19|XM_047441547.1:c.749+258C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||7/17|XM_047441548.1:c.492-949C>T|||||||rs2079338||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||G|G||||chr22:g.29807853G>A|||||||||||||;SpliceAI=A|ASCC2|0.00|0.00|0.00|0.00|48|-3|-33|-30;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46548;gnomADv4_1_AC_joint_XX=24241;gnomADv4_1_AC_joint_XY=22307;gnomADv4_1_AF_grpmax_joint=0.586415;gnomADv4_1_AF_joint=0.306879;gnomADv4_1_AF_joint_XX=0.312344;gnomADv4_1_AF_joint_XY=0.301153;gnomADv4_1_AN_grpmax_joint=5138;gnomADv4_1_AN_joint=151682;gnomADv4_1_AN_joint_XX=77610;gnomADv4_1_AN_joint_XY=74072;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8370;gnomADv4_1_nhomalt_joint_XX=4477;gnomADv4_1_nhomalt_joint_XY=3893;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29808801 chr22_29808801_C_A C A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.947;CADD_Rawscore=-0.03183;CSQ=A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||8/19|ENST00000307790.8:c.834-616G>T|||||||rs73161050||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||9/20|ENST00000397771.6:c.834-616G>T|||||||rs73161050||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29808801C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||||||||||rs73161050|4670|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||9/20|ENST00000458594.5:c.*844-616G>T|||||||rs73161050||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||1/2|ENST00000464287.1:n.395-616G>T|||||||rs73161050||-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||1/3|ENST00000472433.5:n.114-616G>T|||||||rs73161050||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||5/8|ENST00000478812.5:n.499-616G>T|||||||rs73161050||-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29808801C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||||||||||rs73161050|3977|-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||7/18|ENST00000542393.5:c.606-616G>T|||||||rs73161050||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||7/18|NM_001242906.2:c.606-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||8/19|NM_001369920.1:c.834-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||10/21|NM_001369921.1:c.834-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||9/20|NM_001369922.1:c.834-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||9/20|NM_001369923.1:c.834-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||8/19|NM_001369924.1:c.834-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||7/18|NM_001369925.1:c.675-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||8/19|NM_001369926.1:c.675-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||7/18|NM_001369927.1:c.675-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||9/20|NM_001369928.1:c.675-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||7/18|NM_001369929.1:c.675-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||7/17|NM_001369930.1:c.675-1897G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||11/22|NM_001369931.1:c.492-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||9/20|NM_001369932.1:c.492-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||8/19|NM_001369933.1:c.492-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||7/18|NM_001369934.1:c.492-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||9/20|NM_001369935.1:c.492-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||6/17|NM_001369936.1:c.492-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||7/18|NM_001369937.1:c.492-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||9/20|NM_001369938.1:c.492-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||7/18|NM_001369939.1:c.492-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||8/19|NM_001369940.1:c.492-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||7/18|NM_001369941.1:c.492-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||5/16|NM_001369942.1:c.300-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||6/17|NM_001369943.1:c.126-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||5/16|NM_001369944.1:c.126-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||8/19|NM_001369945.1:c.126-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||9/20|NM_001369946.1:c.126-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||5/16|NM_001369947.1:c.126-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||9/20|NM_001369948.1:c.126-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||7/18|NM_001369949.1:c.126-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||6/17|NM_001369950.1:c.126-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||8/19|NM_032204.5:c.834-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||9/20|XM_011530442.4:c.834-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||10/21|XM_011530443.3:c.834-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||10/21|XM_011530444.3:c.834-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||9/20|XM_011530445.3:c.834-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||8/19|XM_011530448.3:c.675-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||9/20|XM_011530453.3:c.492-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||8/19|XM_011530454.3:c.492-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||7/18|XM_011530455.3:c.492-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||7/18|XM_024452287.2:c.996-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||7/17|XM_024452288.2:c.996-1897G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||7/17|XM_024452289.2:c.996-1897G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||6/17|XM_024452290.2:c.837-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||6/17|XM_024452291.2:c.837-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||7/18|XM_047441538.1:c.996-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||8/19|XM_047441539.1:c.834-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||10/21|XM_047441540.1:c.834-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||8/18|XM_047441541.1:c.834-1897G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||6/16|XM_047441542.1:c.837-1897G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||9/19|XM_047441543.1:c.834-1897G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||10/20|XM_047441544.1:c.834-1897G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||8/18|XM_047441545.1:c.834-1897G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||9/19|XM_047441546.1:c.834-1897G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||8/19|XM_047441547.1:c.675-616G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||7/17|XM_047441548.1:c.492-1897G>T|||||||rs73161050||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29808801C>A|||||||||||||;SpliceAI=A|ASCC2|0.00|0.00|0.00|0.00|1|11|2|1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000449900,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19081;gnomADv4_1_AC_joint_XX=9697;gnomADv4_1_AC_joint_XY=9384;gnomADv4_1_AF_grpmax_joint=0.242205;gnomADv4_1_AF_joint=0.131664;gnomADv4_1_AF_joint_XX=0.130189;gnomADv4_1_AF_joint_XY=0.133224;gnomADv4_1_AN_grpmax_joint=4554;gnomADv4_1_AN_joint=144922;gnomADv4_1_AN_joint_XX=74484;gnomADv4_1_AN_joint_XY=70438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1439;gnomADv4_1_nhomalt_joint_XX=745;gnomADv4_1_nhomalt_joint_XY=694;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29808991 chr22_29808991_A_T A T 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=3.022;CADD_Rawscore=0.276595;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||8/19|ENST00000307790.8:c.834-806T>A|||||||rs36574||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||9/20|ENST00000397771.6:c.834-806T>A|||||||rs36574||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29808991A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||||||||||rs36574|4480|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||9/20|ENST00000458594.5:c.*844-806T>A|||||||rs36574||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||1/2|ENST00000464287.1:n.395-806T>A|||||||rs36574||-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||1/3|ENST00000472433.5:n.114-806T>A|||||||rs36574||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||5/8|ENST00000478812.5:n.499-806T>A|||||||rs36574||-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29808991A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||||||||||rs36574|4167|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||7/18|ENST00000542393.5:c.606-806T>A|||||||rs36574||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||7/18|NM_001242906.2:c.606-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||8/19|NM_001369920.1:c.834-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||10/21|NM_001369921.1:c.834-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||9/20|NM_001369922.1:c.834-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||9/20|NM_001369923.1:c.834-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||8/19|NM_001369924.1:c.834-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||7/18|NM_001369925.1:c.675-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||8/19|NM_001369926.1:c.675-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||7/18|NM_001369927.1:c.675-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||9/20|NM_001369928.1:c.675-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||7/18|NM_001369929.1:c.675-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||7/17|NM_001369930.1:c.675-2087T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||11/22|NM_001369931.1:c.492-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||9/20|NM_001369932.1:c.492-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||8/19|NM_001369933.1:c.492-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||7/18|NM_001369934.1:c.492-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||9/20|NM_001369935.1:c.492-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||6/17|NM_001369936.1:c.492-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||7/18|NM_001369937.1:c.492-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||9/20|NM_001369938.1:c.492-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||7/18|NM_001369939.1:c.492-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||8/19|NM_001369940.1:c.492-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||7/18|NM_001369941.1:c.492-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||5/16|NM_001369942.1:c.300-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||6/17|NM_001369943.1:c.126-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||5/16|NM_001369944.1:c.126-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||8/19|NM_001369945.1:c.126-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||9/20|NM_001369946.1:c.126-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||5/16|NM_001369947.1:c.126-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||9/20|NM_001369948.1:c.126-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||7/18|NM_001369949.1:c.126-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||6/17|NM_001369950.1:c.126-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||8/19|NM_032204.5:c.834-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||9/20|XM_011530442.4:c.834-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||10/21|XM_011530443.3:c.834-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||10/21|XM_011530444.3:c.834-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||9/20|XM_011530445.3:c.834-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||8/19|XM_011530448.3:c.675-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||9/20|XM_011530453.3:c.492-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||8/19|XM_011530454.3:c.492-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||7/18|XM_011530455.3:c.492-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||7/18|XM_024452287.2:c.996-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||7/17|XM_024452288.2:c.996-2087T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||7/17|XM_024452289.2:c.996-2087T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||6/17|XM_024452290.2:c.837-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||6/17|XM_024452291.2:c.837-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||7/18|XM_047441538.1:c.996-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||8/19|XM_047441539.1:c.834-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||10/21|XM_047441540.1:c.834-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||8/18|XM_047441541.1:c.834-2087T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||6/16|XM_047441542.1:c.837-2087T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||9/19|XM_047441543.1:c.834-2087T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||10/20|XM_047441544.1:c.834-2087T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||8/18|XM_047441545.1:c.834-2087T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||9/19|XM_047441546.1:c.834-2087T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||8/19|XM_047441547.1:c.675-806T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||7/17|XM_047441548.1:c.492-2087T>A|||||||rs36574||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29808991A>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|4|-36|4|-7;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000449900,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64146;gnomADv4_1_AC_joint_XX=33530;gnomADv4_1_AC_joint_XY=30616;gnomADv4_1_AF_grpmax_joint=0.583759;gnomADv4_1_AF_joint=0.424392;gnomADv4_1_AF_joint_XX=0.433339;gnomADv4_1_AF_joint_XY=0.415008;gnomADv4_1_AN_grpmax_joint=5086;gnomADv4_1_AN_joint=151148;gnomADv4_1_AN_joint_XX=77376;gnomADv4_1_AN_joint_XY=73772;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14075;gnomADv4_1_nhomalt_joint_XX=7532;gnomADv4_1_nhomalt_joint_XY=6543;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29809141 chr22_29809141_A_AAT;chr22_29809141_A_T A T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=25;CADD_PHREDscore=12.4;CADD_Rawscore=1.22836;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||8/19|ENST00000307790.8:c.834-956T>A|||||||rs8142470||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||9/20|ENST00000397771.6:c.834-956T>A|||||||rs8142470||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29809141A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||||||||||rs8142470|4330|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||9/20|ENST00000458594.5:c.*844-956T>A|||||||rs8142470||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||1/2|ENST00000464287.1:n.394+754T>A|||||||rs8142470||-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||1/3|ENST00000472433.5:n.114-956T>A|||||||rs8142470||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||5/8|ENST00000478812.5:n.499-956T>A|||||||rs8142470||-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29809141A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||||||||||rs8142470|4317|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||7/18|ENST00000542393.5:c.606-956T>A|||||||rs8142470||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||7/18|NM_001242906.2:c.606-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||8/19|NM_001369920.1:c.834-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||10/21|NM_001369921.1:c.834-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||9/20|NM_001369922.1:c.834-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||9/20|NM_001369923.1:c.834-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||8/19|NM_001369924.1:c.834-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||7/18|NM_001369925.1:c.675-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||8/19|NM_001369926.1:c.675-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||7/18|NM_001369927.1:c.675-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||9/20|NM_001369928.1:c.675-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||7/18|NM_001369929.1:c.675-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||7/17|NM_001369930.1:c.675-2237T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||11/22|NM_001369931.1:c.492-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||9/20|NM_001369932.1:c.492-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||8/19|NM_001369933.1:c.492-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||7/18|NM_001369934.1:c.492-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||9/20|NM_001369935.1:c.492-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||6/17|NM_001369936.1:c.492-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||7/18|NM_001369937.1:c.492-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||9/20|NM_001369938.1:c.492-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||7/18|NM_001369939.1:c.492-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||8/19|NM_001369940.1:c.492-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||7/18|NM_001369941.1:c.492-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||5/16|NM_001369942.1:c.300-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||6/17|NM_001369943.1:c.126-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||5/16|NM_001369944.1:c.126-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||8/19|NM_001369945.1:c.126-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||9/20|NM_001369946.1:c.126-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||5/16|NM_001369947.1:c.126-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||9/20|NM_001369948.1:c.126-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||7/18|NM_001369949.1:c.126-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||6/17|NM_001369950.1:c.126-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||8/19|NM_032204.5:c.834-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||9/20|XM_011530442.4:c.834-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||10/21|XM_011530443.3:c.834-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||10/21|XM_011530444.3:c.834-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||9/20|XM_011530445.3:c.834-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||8/19|XM_011530448.3:c.675-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||9/20|XM_011530453.3:c.492-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||8/19|XM_011530454.3:c.492-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||7/18|XM_011530455.3:c.492-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||7/18|XM_024452287.2:c.996-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||7/17|XM_024452288.2:c.996-2237T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||7/17|XM_024452289.2:c.996-2237T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||6/17|XM_024452290.2:c.837-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||6/17|XM_024452291.2:c.837-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||7/18|XM_047441538.1:c.996-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||8/19|XM_047441539.1:c.834-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||10/21|XM_047441540.1:c.834-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||8/18|XM_047441541.1:c.834-2237T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||6/16|XM_047441542.1:c.837-2237T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||9/19|XM_047441543.1:c.834-2237T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||10/20|XM_047441544.1:c.834-2237T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||8/18|XM_047441545.1:c.834-2237T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||9/19|XM_047441546.1:c.834-2237T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||8/19|XM_047441547.1:c.675-956T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||7/17|XM_047441548.1:c.492-2237T>A|||||||rs8142470||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29809141A>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|-23|-27|-27|-23;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000449900,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52707;gnomADv4_1_AC_joint_XX=26679;gnomADv4_1_AC_joint_XY=26028;gnomADv4_1_AF_grpmax_joint=0.621722;gnomADv4_1_AF_joint=0.374414;gnomADv4_1_AF_joint_XX=0.365726;gnomADv4_1_AF_joint_XY=0.383758;gnomADv4_1_AN_grpmax_joint=4576;gnomADv4_1_AN_joint=140772;gnomADv4_1_AN_joint_XX=72948;gnomADv4_1_AN_joint_XY=67824;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=12219;gnomADv4_1_nhomalt_joint_XX=6088;gnomADv4_1_nhomalt_joint_XY=6131;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29809141 chr22_29809141_A_AAT;chr22_29809141_A_T A AAT 40 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=9.769;CADDIndel_Rawscore=0.950636;CSQ=AT|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||8/19|ENST00000307790.8:c.834-957_834-956insAT|||||||rs59722783||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||9/20|ENST00000397771.6:c.834-957_834-956insAT|||||||rs59722783||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||||||||||rs59722783|4329|-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||9/20|ENST00000458594.5:c.*844-957_*844-956insAT|||||||rs59722783||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||1/2|ENST00000464287.1:n.394+753_394+754insAT|||||||rs59722783||-1||HGNC|HGNC:24103|4||||||||Ensembl|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||1/3|ENST00000472433.5:n.114-957_114-956insAT|||||||rs59722783||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||5/8|ENST00000478812.5:n.499-957_499-956insAT|||||||rs59722783||-1||HGNC|HGNC:24103|5||||||||Ensembl|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000487486|retained_intron||||||||||rs59722783|4317|-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||7/18|ENST00000542393.5:c.606-957_606-956insAT|||||||rs59722783||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||7/18|NM_001242906.2:c.606-957_606-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||8/19|NM_001369920.1:c.834-957_834-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||10/21|NM_001369921.1:c.834-957_834-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||9/20|NM_001369922.1:c.834-957_834-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||9/20|NM_001369923.1:c.834-957_834-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||8/19|NM_001369924.1:c.834-957_834-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||7/18|NM_001369925.1:c.675-957_675-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||8/19|NM_001369926.1:c.675-957_675-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||7/18|NM_001369927.1:c.675-957_675-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||9/20|NM_001369928.1:c.675-957_675-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||7/18|NM_001369929.1:c.675-957_675-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||7/17|NM_001369930.1:c.675-2238_675-2237insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||11/22|NM_001369931.1:c.492-957_492-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||9/20|NM_001369932.1:c.492-957_492-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||8/19|NM_001369933.1:c.492-957_492-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||7/18|NM_001369934.1:c.492-957_492-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||9/20|NM_001369935.1:c.492-957_492-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||6/17|NM_001369936.1:c.492-957_492-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||7/18|NM_001369937.1:c.492-957_492-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||9/20|NM_001369938.1:c.492-957_492-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||7/18|NM_001369939.1:c.492-957_492-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||8/19|NM_001369940.1:c.492-957_492-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||7/18|NM_001369941.1:c.492-957_492-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||5/16|NM_001369942.1:c.300-957_300-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||6/17|NM_001369943.1:c.126-957_126-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||5/16|NM_001369944.1:c.126-957_126-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||8/19|NM_001369945.1:c.126-957_126-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||9/20|NM_001369946.1:c.126-957_126-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||5/16|NM_001369947.1:c.126-957_126-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||9/20|NM_001369948.1:c.126-957_126-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||7/18|NM_001369949.1:c.126-957_126-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||6/17|NM_001369950.1:c.126-957_126-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||8/19|NM_032204.5:c.834-957_834-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||9/20|XM_011530442.4:c.834-957_834-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||10/21|XM_011530443.3:c.834-957_834-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||10/21|XM_011530444.3:c.834-957_834-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||9/20|XM_011530445.3:c.834-957_834-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||8/19|XM_011530448.3:c.675-957_675-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||9/20|XM_011530453.3:c.492-957_492-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||8/19|XM_011530454.3:c.492-957_492-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||7/18|XM_011530455.3:c.492-957_492-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||7/18|XM_024452287.2:c.996-957_996-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||7/17|XM_024452288.2:c.996-2238_996-2237insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||7/17|XM_024452289.2:c.996-2238_996-2237insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||6/17|XM_024452290.2:c.837-957_837-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||6/17|XM_024452291.2:c.837-957_837-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||7/18|XM_047441538.1:c.996-957_996-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||8/19|XM_047441539.1:c.834-957_834-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||10/21|XM_047441540.1:c.834-957_834-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||8/18|XM_047441541.1:c.834-2238_834-2237insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||6/16|XM_047441542.1:c.837-2238_837-2237insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||9/19|XM_047441543.1:c.834-2238_834-2237insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||10/20|XM_047441544.1:c.834-2238_834-2237insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||8/18|XM_047441545.1:c.834-2238_834-2237insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||9/19|XM_047441546.1:c.834-2238_834-2237insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||8/19|XM_047441547.1:c.675-957_675-956insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||,AT|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||7/17|XM_047441548.1:c.492-2238_492-2237insAT|||||||rs59722783||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq|||||||chr22:g.29809141_29809142insAT|||||||||||||;TYPE=INDEL;VEP_Allele=AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000449900,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000487486,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54018;gnomADv4_1_AC_joint_XX=28919;gnomADv4_1_AC_joint_XY=25099;gnomADv4_1_AF_grpmax_joint=0.552411;gnomADv4_1_AF_joint=0.382255;gnomADv4_1_AF_joint_XX=0.394917;gnomADv4_1_AF_joint_XY=0.368637;gnomADv4_1_AN_grpmax_joint=4770;gnomADv4_1_AN_joint=141314;gnomADv4_1_AN_joint_XX=73228;gnomADv4_1_AN_joint_XY=68086;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11536;gnomADv4_1_nhomalt_joint_XX=6319;gnomADv4_1_nhomalt_joint_XY=5217;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29810302 chr22_29810302_C_A C A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=10.36;CADD_Rawscore=1.00278;CSQ=A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||8/19|ENST00000307790.8:c.834-2117G>T|||||||rs36576||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||9/20|ENST00000397771.6:c.834-2117G>T|||||||rs36576||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29810302C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||||||||||rs36576|4355|-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||C|C||||chr22:g.29810302C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||||||||||rs36576|3169|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||9/20|ENST00000458594.5:c.*844-2117G>T|||||||rs36576||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29810302C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||||||||||rs36576|14|-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||1/3|ENST00000472433.5:n.114-2117G>T|||||||rs36576||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||5/8|ENST00000478812.5:n.499-2117G>T|||||||rs36576||-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29810302C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||||||||||rs36576|4904|-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||7/18|ENST00000542393.5:c.606-2117G>T|||||||rs36576||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||7/18|NM_001242906.2:c.606-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||8/19|NM_001369920.1:c.834-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||10/21|NM_001369921.1:c.834-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||9/20|NM_001369922.1:c.834-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||9/20|NM_001369923.1:c.834-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||8/19|NM_001369924.1:c.834-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||7/18|NM_001369925.1:c.675-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||8/19|NM_001369926.1:c.675-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||7/18|NM_001369927.1:c.675-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||9/20|NM_001369928.1:c.675-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||7/18|NM_001369929.1:c.675-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||7/17|NM_001369930.1:c.674+3128G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||11/22|NM_001369931.1:c.492-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||9/20|NM_001369932.1:c.492-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||8/19|NM_001369933.1:c.492-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||7/18|NM_001369934.1:c.492-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||9/20|NM_001369935.1:c.492-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||6/17|NM_001369936.1:c.492-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||7/18|NM_001369937.1:c.492-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||9/20|NM_001369938.1:c.492-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||7/18|NM_001369939.1:c.492-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||8/19|NM_001369940.1:c.492-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||7/18|NM_001369941.1:c.492-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||5/16|NM_001369942.1:c.300-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||6/17|NM_001369943.1:c.126-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||5/16|NM_001369944.1:c.126-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||8/19|NM_001369945.1:c.126-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||9/20|NM_001369946.1:c.126-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||5/16|NM_001369947.1:c.126-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||9/20|NM_001369948.1:c.126-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||7/18|NM_001369949.1:c.126-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||6/17|NM_001369950.1:c.126-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||8/19|NM_032204.5:c.834-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||9/20|XM_011530442.4:c.834-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||10/21|XM_011530443.3:c.834-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||10/21|XM_011530444.3:c.834-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||9/20|XM_011530445.3:c.834-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||8/19|XM_011530448.3:c.675-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||9/20|XM_011530453.3:c.492-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||8/19|XM_011530454.3:c.492-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||7/18|XM_011530455.3:c.492-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||7/18|XM_024452287.2:c.996-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||7/17|XM_024452288.2:c.995+3128G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||7/17|XM_024452289.2:c.995+3128G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||6/17|XM_024452290.2:c.837-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||6/17|XM_024452291.2:c.837-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||7/18|XM_047441538.1:c.996-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||8/19|XM_047441539.1:c.834-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||10/21|XM_047441540.1:c.834-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||8/18|XM_047441541.1:c.833+3128G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||6/16|XM_047441542.1:c.836+3128G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||9/19|XM_047441543.1:c.833+3128G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||10/20|XM_047441544.1:c.833+3128G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||8/18|XM_047441545.1:c.833+3128G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||9/19|XM_047441546.1:c.833+3128G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||8/19|XM_047441547.1:c.675-2117G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||7/17|XM_047441548.1:c.491+3128G>T|||||||rs36576||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29810302C>A|||||||||||||;SpliceAI=A|ASCC2|0.00|0.00|0.00|0.00|-44|41|2|-20;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000431535,ENST00000449900,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64610;gnomADv4_1_AC_joint_XX=33692;gnomADv4_1_AC_joint_XY=30918;gnomADv4_1_AF_grpmax_joint=0.587133;gnomADv4_1_AF_joint=0.42482;gnomADv4_1_AF_joint_XX=0.43346;gnomADv4_1_AF_joint_XY=0.415788;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14203;gnomADv4_1_nhomalt_joint_XX=7571;gnomADv4_1_nhomalt_joint_XY=6632;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29812619 chr22_29812619_G_A G A 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=3.094;CADD_Rawscore=0.283396;CSQ=A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||8/19|ENST00000307790.8:c.833+811C>T|||||||rs5752964||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||9/20|ENST00000397771.6:c.833+811C>T|||||||rs5752964||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29812619G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||||||||||rs5752964|2038|-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||G|G||||chr22:g.29812619G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||||||||||rs5752964|852|-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||9/20|ENST00000458594.5:c.*843+811C>T|||||||rs5752964||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29812619G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||||||||||rs5752964|2331|-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||1/3|ENST00000472433.5:n.113+811C>T|||||||rs5752964||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||5/8|ENST00000478812.5:n.498+811C>T|||||||rs5752964||-1||HGNC|HGNC:24103|5||||||||Ensembl||G|G||||chr22:g.29812619G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||||||||||rs5752964|2587|-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||7/18|ENST00000542393.5:c.605+811C>T|||||||rs5752964||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||7/18|NM_001242906.2:c.605+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||8/19|NM_001369920.1:c.833+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||10/21|NM_001369921.1:c.833+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||9/20|NM_001369922.1:c.833+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||9/20|NM_001369923.1:c.833+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||8/19|NM_001369924.1:c.833+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||7/18|NM_001369925.1:c.674+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||8/19|NM_001369926.1:c.674+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||7/18|NM_001369927.1:c.674+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||9/20|NM_001369928.1:c.674+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||7/18|NM_001369929.1:c.674+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||7/17|NM_001369930.1:c.674+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||11/22|NM_001369931.1:c.491+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||9/20|NM_001369932.1:c.491+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||8/19|NM_001369933.1:c.491+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||7/18|NM_001369934.1:c.491+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||9/20|NM_001369935.1:c.491+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||6/17|NM_001369936.1:c.491+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||7/18|NM_001369937.1:c.491+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||9/20|NM_001369938.1:c.491+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||7/18|NM_001369939.1:c.491+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||8/19|NM_001369940.1:c.491+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||7/18|NM_001369941.1:c.491+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||5/16|NM_001369942.1:c.299+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||6/17|NM_001369943.1:c.125+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||5/16|NM_001369944.1:c.125+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||8/19|NM_001369945.1:c.125+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||9/20|NM_001369946.1:c.125+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||5/16|NM_001369947.1:c.125+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||9/20|NM_001369948.1:c.125+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||7/18|NM_001369949.1:c.125+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||6/17|NM_001369950.1:c.125+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||8/19|NM_032204.5:c.833+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||9/20|XM_011530442.4:c.833+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||10/21|XM_011530443.3:c.833+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||10/21|XM_011530444.3:c.833+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||9/20|XM_011530445.3:c.833+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||8/19|XM_011530448.3:c.674+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||9/20|XM_011530453.3:c.491+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||8/19|XM_011530454.3:c.491+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||7/18|XM_011530455.3:c.491+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||7/18|XM_024452287.2:c.995+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||7/17|XM_024452288.2:c.995+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||7/17|XM_024452289.2:c.995+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||6/17|XM_024452290.2:c.836+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||6/17|XM_024452291.2:c.836+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||7/18|XM_047441538.1:c.995+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||8/19|XM_047441539.1:c.833+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||10/21|XM_047441540.1:c.833+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||8/18|XM_047441541.1:c.833+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||6/16|XM_047441542.1:c.836+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||9/19|XM_047441543.1:c.833+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||10/20|XM_047441544.1:c.833+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||8/18|XM_047441545.1:c.833+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||9/19|XM_047441546.1:c.833+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||8/19|XM_047441547.1:c.674+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||7/17|XM_047441548.1:c.491+811C>T|||||||rs5752964||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||G|G||||chr22:g.29812619G>A|||||||||||||;SpliceAI=A|ASCC2|0.00|0.00|0.00|0.00|28|-26|28|-26;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000431535,ENST00000449900,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47456;gnomADv4_1_AC_joint_XX=24712;gnomADv4_1_AC_joint_XY=22744;gnomADv4_1_AF_grpmax_joint=0.587743;gnomADv4_1_AF_joint=0.31212;gnomADv4_1_AF_joint_XX=0.317921;gnomADv4_1_AF_joint_XY=0.306053;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8517;gnomADv4_1_nhomalt_joint_XX=4547;gnomADv4_1_nhomalt_joint_XY=3970;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29812886 chr22_29812886_G_GT G GT 44 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.424;CADDIndel_Rawscore=-0.234591;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||8/19|ENST00000307790.8:c.833+543dup|||||||rs111804922||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||9/20|ENST00000397771.6:c.833+543dup|||||||rs111804922||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29812900dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||||||||||rs111804922|1770|-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl|||||||chr22:g.29812900dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||||||||||rs111804922|584|-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||9/20|ENST00000458594.5:c.*843+543dup|||||||rs111804922||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29812900dup|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||||||||||rs111804922|2598|-1||HGNC|HGNC:24103|4||||||||Ensembl|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||1/3|ENST00000472433.5:n.113+543dup|||||||rs111804922||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||5/8|ENST00000478812.5:n.498+543dup|||||||rs111804922||-1||HGNC|HGNC:24103|5||||||||Ensembl|||||||chr22:g.29812900dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||||||||||rs111804922|2319|-1||HGNC|HGNC:24103|4||||||||Ensembl|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||7/18|ENST00000542393.5:c.605+543dup|||||||rs111804922||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||7/18|NM_001242906.2:c.605+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||8/19|NM_001369920.1:c.833+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||10/21|NM_001369921.1:c.833+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||9/20|NM_001369922.1:c.833+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||9/20|NM_001369923.1:c.833+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||8/19|NM_001369924.1:c.833+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||7/18|NM_001369925.1:c.674+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||8/19|NM_001369926.1:c.674+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||7/18|NM_001369927.1:c.674+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||9/20|NM_001369928.1:c.674+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||7/18|NM_001369929.1:c.674+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||7/17|NM_001369930.1:c.674+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||11/22|NM_001369931.1:c.491+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||9/20|NM_001369932.1:c.491+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||8/19|NM_001369933.1:c.491+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||7/18|NM_001369934.1:c.491+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||9/20|NM_001369935.1:c.491+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||6/17|NM_001369936.1:c.491+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||7/18|NM_001369937.1:c.491+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||9/20|NM_001369938.1:c.491+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||7/18|NM_001369939.1:c.491+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||8/19|NM_001369940.1:c.491+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||7/18|NM_001369941.1:c.491+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||5/16|NM_001369942.1:c.299+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||6/17|NM_001369943.1:c.125+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||5/16|NM_001369944.1:c.125+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||8/19|NM_001369945.1:c.125+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||9/20|NM_001369946.1:c.125+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||5/16|NM_001369947.1:c.125+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||9/20|NM_001369948.1:c.125+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||7/18|NM_001369949.1:c.125+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||6/17|NM_001369950.1:c.125+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||8/19|NM_032204.5:c.833+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||9/20|XM_011530442.4:c.833+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||10/21|XM_011530443.3:c.833+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||10/21|XM_011530444.3:c.833+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||9/20|XM_011530445.3:c.833+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||8/19|XM_011530448.3:c.674+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||9/20|XM_011530453.3:c.491+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||8/19|XM_011530454.3:c.491+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||7/18|XM_011530455.3:c.491+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||7/18|XM_024452287.2:c.995+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||7/17|XM_024452288.2:c.995+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||7/17|XM_024452289.2:c.995+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||6/17|XM_024452290.2:c.836+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||6/17|XM_024452291.2:c.836+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||7/18|XM_047441538.1:c.995+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||8/19|XM_047441539.1:c.833+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||10/21|XM_047441540.1:c.833+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||8/18|XM_047441541.1:c.833+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||6/16|XM_047441542.1:c.836+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||9/19|XM_047441543.1:c.833+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||10/20|XM_047441544.1:c.833+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||8/18|XM_047441545.1:c.833+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||9/19|XM_047441546.1:c.833+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||8/19|XM_047441547.1:c.674+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||7/17|XM_047441548.1:c.491+543dup|||||||rs111804922||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq|||||||chr22:g.29812900dup|||||||||||||;SpliceAI=GT|ASCC2|0.00|0.00|0.00|0.00|-36|-31|37|29;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000431535,ENST00000449900,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46232;gnomADv4_1_AC_joint_XX=24299;gnomADv4_1_AC_joint_XY=21933;gnomADv4_1_AF_grpmax_joint=0.597795;gnomADv4_1_AF_joint=0.321721;gnomADv4_1_AF_joint_XX=0.327718;gnomADv4_1_AF_joint_XY=0.315329;gnomADv4_1_AN_grpmax_joint=4898;gnomADv4_1_AN_joint=143702;gnomADv4_1_AN_joint_XX=74146;gnomADv4_1_AN_joint_XY=69556;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8166;gnomADv4_1_nhomalt_joint_XX=4410;gnomADv4_1_nhomalt_joint_XY=3756;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29814367 chr22_29814367_G_A G A 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.0;CADD_Rawscore=-0.017933;CSQ=A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||7/19|ENST00000307790.8:c.720+290C>T|||||||rs2074707||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||8/20|ENST00000397771.6:c.720+290C>T|||||||rs2074707||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29814367G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||||||||||rs2074707|290|-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||6/6|ENST00000449900.6:n.508+290C>T|||||||rs2074707||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||8/20|ENST00000458594.5:c.*730+290C>T|||||||rs2074707||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29814367G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000464287|protein_coding_CDS_not_defined||||||||||rs2074707|4079|-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29814367G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||||||||||rs2074707|825|-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||4/8|ENST00000478812.5:n.385+290C>T|||||||rs2074707||-1||HGNC|HGNC:24103|5||||||||Ensembl||G|G||||chr22:g.29814367G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||||||||||rs2074707|839|-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||6/18|ENST00000542393.5:c.492+290C>T|||||||rs2074707||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||6/18|NM_001242906.2:c.492+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||7/19|NM_001369920.1:c.720+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||9/21|NM_001369921.1:c.720+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||8/20|NM_001369922.1:c.720+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||8/20|NM_001369923.1:c.720+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||7/19|NM_001369924.1:c.720+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||6/18|NM_001369925.1:c.561+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||7/19|NM_001369926.1:c.561+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||6/18|NM_001369927.1:c.561+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||8/20|NM_001369928.1:c.561+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||6/18|NM_001369929.1:c.561+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||6/17|NM_001369930.1:c.561+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||10/22|NM_001369931.1:c.378+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||8/20|NM_001369932.1:c.378+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||7/19|NM_001369933.1:c.378+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||6/18|NM_001369934.1:c.378+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||8/20|NM_001369935.1:c.378+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||5/17|NM_001369936.1:c.378+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||6/18|NM_001369937.1:c.378+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||8/20|NM_001369938.1:c.378+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||6/18|NM_001369939.1:c.378+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||7/19|NM_001369940.1:c.378+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||6/18|NM_001369941.1:c.378+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||4/16|NM_001369942.1:c.186+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||5/17|NM_001369943.1:c.12+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||4/16|NM_001369944.1:c.12+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||7/19|NM_001369945.1:c.12+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||8/20|NM_001369946.1:c.12+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||4/16|NM_001369947.1:c.12+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||8/20|NM_001369948.1:c.12+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||6/18|NM_001369949.1:c.12+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||5/17|NM_001369950.1:c.12+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||7/19|NM_032204.5:c.720+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||8/20|XM_011530442.4:c.720+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||9/21|XM_011530443.3:c.720+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||9/21|XM_011530444.3:c.720+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||8/20|XM_011530445.3:c.720+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||7/19|XM_011530448.3:c.561+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||8/20|XM_011530453.3:c.378+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||7/19|XM_011530454.3:c.378+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||6/18|XM_011530455.3:c.378+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||6/18|XM_024452287.2:c.882+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||6/17|XM_024452288.2:c.882+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||6/17|XM_024452289.2:c.882+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||5/17|XM_024452290.2:c.723+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||5/17|XM_024452291.2:c.723+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||6/18|XM_047441538.1:c.882+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||7/19|XM_047441539.1:c.720+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||9/21|XM_047441540.1:c.720+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||7/18|XM_047441541.1:c.720+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||5/16|XM_047441542.1:c.723+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||8/19|XM_047441543.1:c.720+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||9/20|XM_047441544.1:c.720+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||7/18|XM_047441545.1:c.720+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||8/19|XM_047441546.1:c.720+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||7/19|XM_047441547.1:c.561+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||6/17|XM_047441548.1:c.378+290C>T|||||||rs2074707||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||G|G||||chr22:g.29814367G>A|||||||||||||;SpliceAI=A|ASCC2|0.00|0.00|0.00|0.00|-14|19|-26|4;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000431535,ENST00000449900,ENST00000458594,ENST00000464287,ENST00000472433,ENST00000478812,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47528;gnomADv4_1_AC_joint_XX=24737;gnomADv4_1_AC_joint_XY=22791;gnomADv4_1_AF_grpmax_joint=0.5872;gnomADv4_1_AF_joint=0.312261;gnomADv4_1_AF_joint_XX=0.318014;gnomADv4_1_AF_joint_XY=0.306248;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152206;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8543;gnomADv4_1_nhomalt_joint_XX=4557;gnomADv4_1_nhomalt_joint_XY=3986;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29815523 chr22_29815523_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.127;CADD_Rawscore=-0.546702;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||6/19|ENST00000307790.8:c.609+483T>C|||||||rs36578||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||7/20|ENST00000397771.6:c.609+483T>C|||||||rs36578||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||7/7|ENST00000431535.5:c.609+483T>C|||||||rs36578||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||5/6|ENST00000449900.6:n.397+483T>C|||||||rs36578||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||7/20|ENST00000458594.5:c.*619+483T>C|||||||rs36578||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29815523A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||||||||||rs36578|1981|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||2/8|ENST00000478812.5:n.157-234T>C|||||||rs36578||-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||4/4|ENST00000495967.5:n.467-230T>C|||||||rs36578||-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||5/18|ENST00000542393.5:c.381+483T>C|||||||rs36578||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||5/18|NM_001242906.2:c.381+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||6/19|NM_001369920.1:c.609+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||8/21|NM_001369921.1:c.609+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||7/20|NM_001369922.1:c.609+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||7/20|NM_001369923.1:c.609+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||6/19|NM_001369924.1:c.609+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||5/18|NM_001369925.1:c.450+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||6/19|NM_001369926.1:c.450+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||5/18|NM_001369927.1:c.450+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||7/20|NM_001369928.1:c.450+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||5/18|NM_001369929.1:c.450+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||5/17|NM_001369930.1:c.450+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||9/22|NM_001369931.1:c.267+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||7/20|NM_001369932.1:c.267+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||6/19|NM_001369933.1:c.267+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||5/18|NM_001369934.1:c.267+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||7/20|NM_001369935.1:c.267+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||4/17|NM_001369936.1:c.267+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||5/18|NM_001369937.1:c.267+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||7/20|NM_001369938.1:c.267+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||5/18|NM_001369939.1:c.267+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||6/19|NM_001369940.1:c.267+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||5/18|NM_001369941.1:c.267+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||3/16|NM_001369942.1:c.75+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||4/17|NM_001369943.1:c.-100+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||3/16|NM_001369944.1:c.-100+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||5/19|NM_001369945.1:c.-221-230T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||7/20|NM_001369946.1:c.-100+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||3/16|NM_001369947.1:c.-100+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||6/20|NM_001369948.1:c.-221-230T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||4/18|NM_001369949.1:c.-221-230T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||3/17|NM_001369950.1:c.-221-230T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||6/19|NM_032204.5:c.609+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||7/20|XM_011530442.4:c.609+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||8/21|XM_011530443.3:c.609+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||8/21|XM_011530444.3:c.609+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||7/20|XM_011530445.3:c.609+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||6/19|XM_011530448.3:c.450+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||7/20|XM_011530453.3:c.267+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||6/19|XM_011530454.3:c.267+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||5/18|XM_011530455.3:c.267+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||5/18|XM_024452287.2:c.771+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||5/17|XM_024452288.2:c.771+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||5/17|XM_024452289.2:c.771+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||4/17|XM_024452290.2:c.612+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||4/17|XM_024452291.2:c.612+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||5/18|XM_047441538.1:c.771+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||6/19|XM_047441539.1:c.609+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||8/21|XM_047441540.1:c.609+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||6/18|XM_047441541.1:c.609+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||4/16|XM_047441542.1:c.612+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||7/19|XM_047441543.1:c.609+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||8/20|XM_047441544.1:c.609+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||6/18|XM_047441545.1:c.609+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||7/19|XM_047441546.1:c.609+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||6/19|XM_047441547.1:c.450+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||5/17|XM_047441548.1:c.267+483T>C|||||||rs36578||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29815523A>G|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|-18|48|-14|31;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000431535,ENST00000449900,ENST00000458594,ENST00000472433,ENST00000478812,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=116721;gnomADv4_1_AC_joint_XX=59923;gnomADv4_1_AC_joint_XY=56798;gnomADv4_1_AF_grpmax_joint=0.903482;gnomADv4_1_AF_joint=0.76774;gnomADv4_1_AF_joint_XX=0.770892;gnomADv4_1_AF_joint_XY=0.764441;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=45157;gnomADv4_1_nhomalt_joint_XX=23324;gnomADv4_1_nhomalt_joint_XY=21833;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29815887 chr22_29815887_A_G A G 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.629;CADD_Rawscore=-0.135857;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||6/19|ENST00000307790.8:c.609+119T>C|||||||rs713657||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||7/20|ENST00000397771.6:c.609+119T>C|||||||rs713657||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||7/7|ENST00000431535.5:c.609+119T>C|||||||rs713657||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||5/6|ENST00000449900.6:n.397+119T>C|||||||rs713657||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||7/20|ENST00000458594.5:c.*619+119T>C|||||||rs713657||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29815887A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||||||||||rs713657|2345|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||2/8|ENST00000478812.5:n.156+119T>C|||||||rs713657||-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||4/4|ENST00000495967.5:n.466+119T>C|||||||rs713657||-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||5/18|ENST00000542393.5:c.381+119T>C|||||||rs713657||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||5/18|NM_001242906.2:c.381+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||6/19|NM_001369920.1:c.609+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||8/21|NM_001369921.1:c.609+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||7/20|NM_001369922.1:c.609+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||7/20|NM_001369923.1:c.609+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||6/19|NM_001369924.1:c.609+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||5/18|NM_001369925.1:c.450+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||6/19|NM_001369926.1:c.450+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||5/18|NM_001369927.1:c.450+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||7/20|NM_001369928.1:c.450+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||5/18|NM_001369929.1:c.450+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||5/17|NM_001369930.1:c.450+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||9/22|NM_001369931.1:c.267+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||7/20|NM_001369932.1:c.267+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||6/19|NM_001369933.1:c.267+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||5/18|NM_001369934.1:c.267+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||7/20|NM_001369935.1:c.267+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||4/17|NM_001369936.1:c.267+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||5/18|NM_001369937.1:c.267+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||7/20|NM_001369938.1:c.267+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||5/18|NM_001369939.1:c.267+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||6/19|NM_001369940.1:c.267+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||5/18|NM_001369941.1:c.267+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||3/16|NM_001369942.1:c.75+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||4/17|NM_001369943.1:c.-100+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||3/16|NM_001369944.1:c.-100+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||5/19|NM_001369945.1:c.-222+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||7/20|NM_001369946.1:c.-100+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||3/16|NM_001369947.1:c.-100+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||6/20|NM_001369948.1:c.-222+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||4/18|NM_001369949.1:c.-222+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||3/17|NM_001369950.1:c.-222+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||6/19|NM_032204.5:c.609+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||7/20|XM_011530442.4:c.609+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||8/21|XM_011530443.3:c.609+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||8/21|XM_011530444.3:c.609+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||7/20|XM_011530445.3:c.609+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||6/19|XM_011530448.3:c.450+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||7/20|XM_011530453.3:c.267+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||6/19|XM_011530454.3:c.267+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||5/18|XM_011530455.3:c.267+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||5/18|XM_024452287.2:c.771+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||5/17|XM_024452288.2:c.771+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||5/17|XM_024452289.2:c.771+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||4/17|XM_024452290.2:c.612+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||4/17|XM_024452291.2:c.612+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||5/18|XM_047441538.1:c.771+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||6/19|XM_047441539.1:c.609+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||8/21|XM_047441540.1:c.609+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||6/18|XM_047441541.1:c.609+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||4/16|XM_047441542.1:c.612+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||7/19|XM_047441543.1:c.609+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||8/20|XM_047441544.1:c.609+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||6/18|XM_047441545.1:c.609+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||7/19|XM_047441546.1:c.609+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||6/19|XM_047441547.1:c.450+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||5/17|XM_047441548.1:c.267+119T>C|||||||rs713657||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29815887A>G|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|29|-14|14|17;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000431535,ENST00000449900,ENST00000458594,ENST00000472433,ENST00000478812,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=296629;gnomADv4_1_AC_joint_XX=147155;gnomADv4_1_AC_joint_XY=149474;gnomADv4_1_AF_grpmax_joint=0.653397;gnomADv4_1_AF_joint=0.366664;gnomADv4_1_AF_joint_XX=0.375499;gnomADv4_1_AF_joint_XY=0.358363;gnomADv4_1_AN_grpmax_joint=37028;gnomADv4_1_AN_joint=808994;gnomADv4_1_AN_joint_XX=391892;gnomADv4_1_AN_joint_XY=417102;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=58681;gnomADv4_1_nhomalt_joint_XX=29446;gnomADv4_1_nhomalt_joint_XY=29235;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29816205 chr22_29816205_C_G C G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.556;CADD_Rawscore=0.229698;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||5/19|ENST00000307790.8:c.542-132G>C|||||||rs713656||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||6/20|ENST00000397771.6:c.542-132G>C|||||||rs713656||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||6/7|ENST00000431535.5:c.542-132G>C|||||||rs713656||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-132G>C|||||||rs713656||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||6/20|ENST00000458594.5:c.*552-132G>C|||||||rs713656||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29816205C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||||||||||rs713656|2663|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||1/8|ENST00000478812.5:n.89-132G>C|||||||rs713656||-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||3/4|ENST00000495967.5:n.399-132G>C|||||||rs713656||-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||4/18|ENST00000542393.5:c.314-132G>C|||||||rs713656||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||4/18|NM_001242906.2:c.314-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||5/19|NM_001369920.1:c.542-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||7/21|NM_001369921.1:c.542-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||6/20|NM_001369922.1:c.542-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||6/20|NM_001369923.1:c.542-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||5/19|NM_001369924.1:c.542-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||4/18|NM_001369925.1:c.383-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||5/19|NM_001369926.1:c.383-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||4/18|NM_001369927.1:c.383-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||6/20|NM_001369928.1:c.383-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||4/18|NM_001369929.1:c.383-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||4/17|NM_001369930.1:c.383-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||8/22|NM_001369931.1:c.200-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||6/20|NM_001369932.1:c.200-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||5/19|NM_001369933.1:c.200-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||4/18|NM_001369934.1:c.200-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||6/20|NM_001369935.1:c.200-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||3/17|NM_001369936.1:c.200-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||4/18|NM_001369937.1:c.200-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||6/20|NM_001369938.1:c.200-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||4/18|NM_001369939.1:c.200-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||5/19|NM_001369940.1:c.200-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||4/18|NM_001369941.1:c.200-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||2/16|NM_001369942.1:c.8-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-167-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||4/19|NM_001369945.1:c.-289-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-167-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-167-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||5/20|NM_001369948.1:c.-289-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||3/18|NM_001369949.1:c.-289-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||5/19|NM_032204.5:c.542-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||6/20|XM_011530442.4:c.542-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||7/21|XM_011530443.3:c.542-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||7/21|XM_011530444.3:c.542-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||6/20|XM_011530445.3:c.542-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||5/19|XM_011530448.3:c.383-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||6/20|XM_011530453.3:c.200-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||5/19|XM_011530454.3:c.200-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||4/18|XM_011530455.3:c.200-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||4/18|XM_024452287.2:c.704-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||4/17|XM_024452288.2:c.704-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||4/17|XM_024452289.2:c.704-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||3/17|XM_024452290.2:c.545-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||3/17|XM_024452291.2:c.545-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||4/18|XM_047441538.1:c.704-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||5/19|XM_047441539.1:c.542-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||7/21|XM_047441540.1:c.542-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||5/18|XM_047441541.1:c.542-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||3/16|XM_047441542.1:c.545-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||6/19|XM_047441543.1:c.542-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||7/20|XM_047441544.1:c.542-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||5/18|XM_047441545.1:c.542-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||6/19|XM_047441546.1:c.542-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||5/19|XM_047441547.1:c.383-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||4/17|XM_047441548.1:c.200-132G>C|||||||rs713656||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29816205C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FSJD|enhancer||||||||||rs713656|||||||||||||||||||||chr22:g.29816205C>G|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|-36|-29|-36|1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000431535,ENST00000449900,ENST00000458594,ENST00000472433,ENST00000478812,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1,ENSR22_9FSJD;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,.;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=268255;gnomADv4_1_AC_joint_XX=132102;gnomADv4_1_AC_joint_XY=136153;gnomADv4_1_AF_grpmax_joint=0.654015;gnomADv4_1_AF_joint=0.354013;gnomADv4_1_AF_joint_XX=0.361185;gnomADv4_1_AF_joint_XY=0.347322;gnomADv4_1_AN_grpmax_joint=36860;gnomADv4_1_AN_joint=757754;gnomADv4_1_AN_joint_XX=365746;gnomADv4_1_AN_joint_XY=392008;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=52992;gnomADv4_1_nhomalt_joint_XX=26401;gnomADv4_1_nhomalt_joint_XY=26591;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29816377 chr22_29816377_C_T C T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=6.803;CADD_Rawscore=0.636874;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||5/19|ENST00000307790.8:c.542-304G>A|||||||rs5763512||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||6/20|ENST00000397771.6:c.542-304G>A|||||||rs5763512||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||6/7|ENST00000431535.5:c.542-304G>A|||||||rs5763512||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-304G>A|||||||rs5763512||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||6/20|ENST00000458594.5:c.*552-304G>A|||||||rs5763512||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29816377C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||||||||||rs5763512|2835|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||1/8|ENST00000478812.5:n.88+276G>A|||||||rs5763512||-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||3/4|ENST00000495967.5:n.399-304G>A|||||||rs5763512||-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||4/18|ENST00000542393.5:c.314-304G>A|||||||rs5763512||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||4/18|NM_001242906.2:c.314-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||5/19|NM_001369920.1:c.542-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||7/21|NM_001369921.1:c.542-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||6/20|NM_001369922.1:c.542-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||6/20|NM_001369923.1:c.542-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||5/19|NM_001369924.1:c.542-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||4/18|NM_001369925.1:c.383-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||5/19|NM_001369926.1:c.383-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||4/18|NM_001369927.1:c.383-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||6/20|NM_001369928.1:c.383-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||4/18|NM_001369929.1:c.383-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||4/17|NM_001369930.1:c.383-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||8/22|NM_001369931.1:c.200-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||6/20|NM_001369932.1:c.200-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||5/19|NM_001369933.1:c.200-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||4/18|NM_001369934.1:c.200-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||6/20|NM_001369935.1:c.200-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||3/17|NM_001369936.1:c.200-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||4/18|NM_001369937.1:c.200-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||6/20|NM_001369938.1:c.200-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||4/18|NM_001369939.1:c.200-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||5/19|NM_001369940.1:c.200-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||4/18|NM_001369941.1:c.200-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||2/16|NM_001369942.1:c.8-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-167-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||4/19|NM_001369945.1:c.-289-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-167-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-167-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||5/20|NM_001369948.1:c.-289-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||3/18|NM_001369949.1:c.-289-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||5/19|NM_032204.5:c.542-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||6/20|XM_011530442.4:c.542-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||7/21|XM_011530443.3:c.542-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||7/21|XM_011530444.3:c.542-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||6/20|XM_011530445.3:c.542-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||5/19|XM_011530448.3:c.383-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||6/20|XM_011530453.3:c.200-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||5/19|XM_011530454.3:c.200-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||4/18|XM_011530455.3:c.200-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||4/18|XM_024452287.2:c.704-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||4/17|XM_024452288.2:c.704-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||4/17|XM_024452289.2:c.704-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||3/17|XM_024452290.2:c.545-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||3/17|XM_024452291.2:c.545-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||4/18|XM_047441538.1:c.704-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||5/19|XM_047441539.1:c.542-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||7/21|XM_047441540.1:c.542-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||5/18|XM_047441541.1:c.542-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||3/16|XM_047441542.1:c.545-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||6/19|XM_047441543.1:c.542-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||7/20|XM_047441544.1:c.542-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||5/18|XM_047441545.1:c.542-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||6/19|XM_047441546.1:c.542-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||5/19|XM_047441547.1:c.383-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||4/17|XM_047441548.1:c.200-304G>A|||||||rs5763512||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29816377C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FSJD|enhancer||||||||||rs5763512|||||||||||||||||||||chr22:g.29816377C>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.01|0.00|50|18|-9|26;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000431535,ENST00000449900,ENST00000458594,ENST00000472433,ENST00000478812,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1,ENSR22_9FSJD;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,.;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50795;gnomADv4_1_AC_joint_XX=26477;gnomADv4_1_AC_joint_XY=24318;gnomADv4_1_AF_grpmax_joint=0.588247;gnomADv4_1_AF_joint=0.334327;gnomADv4_1_AF_joint_XX=0.340909;gnomADv4_1_AF_joint_XY=0.327445;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151932;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9168;gnomADv4_1_nhomalt_joint_XX=4889;gnomADv4_1_nhomalt_joint_XY=4279;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29816947 chr22_29816947_C_T C T 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.298;CADD_Rawscore=-0.323881;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||5/19|ENST00000307790.8:c.542-874G>A|||||||rs249395||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||6/20|ENST00000397771.6:c.542-874G>A|||||||rs249395||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29816947C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs249395|4945|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||6/7|ENST00000431535.5:c.542-874G>A|||||||rs249395||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-874G>A|||||||rs249395||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||6/20|ENST00000458594.5:c.*552-874G>A|||||||rs249395||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29816947C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||||||||||rs249395|3405|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29816947C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs249395|207|-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||3/4|ENST00000495967.5:n.399-874G>A|||||||rs249395||-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||4/18|ENST00000542393.5:c.314-874G>A|||||||rs249395||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||4/18|NM_001242906.2:c.314-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||5/19|NM_001369920.1:c.542-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||7/21|NM_001369921.1:c.542-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||6/20|NM_001369922.1:c.542-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||6/20|NM_001369923.1:c.542-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||5/19|NM_001369924.1:c.542-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||4/18|NM_001369925.1:c.383-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||5/19|NM_001369926.1:c.383-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||4/18|NM_001369927.1:c.383-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||6/20|NM_001369928.1:c.383-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||4/18|NM_001369929.1:c.383-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||4/17|NM_001369930.1:c.383-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||8/22|NM_001369931.1:c.200-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||6/20|NM_001369932.1:c.200-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||5/19|NM_001369933.1:c.200-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||4/18|NM_001369934.1:c.200-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||6/20|NM_001369935.1:c.200-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||3/17|NM_001369936.1:c.200-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||4/18|NM_001369937.1:c.200-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||6/20|NM_001369938.1:c.200-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||4/18|NM_001369939.1:c.200-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||5/19|NM_001369940.1:c.200-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||4/18|NM_001369941.1:c.200-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||2/16|NM_001369942.1:c.8-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-167-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||4/19|NM_001369945.1:c.-289-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-167-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-167-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||5/20|NM_001369948.1:c.-289-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||3/18|NM_001369949.1:c.-289-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||5/19|NM_032204.5:c.542-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||6/20|XM_011530442.4:c.542-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||7/21|XM_011530443.3:c.542-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||7/21|XM_011530444.3:c.542-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||6/20|XM_011530445.3:c.542-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||5/19|XM_011530448.3:c.383-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||6/20|XM_011530453.3:c.200-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||5/19|XM_011530454.3:c.200-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||4/18|XM_011530455.3:c.200-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||4/18|XM_024452287.2:c.704-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||4/17|XM_024452288.2:c.704-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||4/17|XM_024452289.2:c.704-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||3/17|XM_024452290.2:c.545-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||3/17|XM_024452291.2:c.545-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||4/18|XM_047441538.1:c.704-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||5/19|XM_047441539.1:c.542-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||7/21|XM_047441540.1:c.542-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||5/18|XM_047441541.1:c.542-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||3/16|XM_047441542.1:c.545-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||6/19|XM_047441543.1:c.542-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||7/20|XM_047441544.1:c.542-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||5/18|XM_047441545.1:c.542-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||6/19|XM_047441546.1:c.542-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||5/19|XM_047441547.1:c.383-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||4/17|XM_047441548.1:c.200-874G>A|||||||rs249395||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29816947C>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|49|-41|1|-20;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000458594,ENST00000472433,ENST00000478812,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151829;gnomADv4_1_AC_joint_XX=77560;gnomADv4_1_AC_joint_XY=74269;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.996763;gnomADv4_1_AF_joint_XX=0.996326;gnomADv4_1_AF_joint_XY=0.997221;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152322;gnomADv4_1_AN_joint_XX=77846;gnomADv4_1_AN_joint_XY=74476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75669;gnomADv4_1_nhomalt_joint_XX=38637;gnomADv4_1_nhomalt_joint_XY=37032;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29816997 chr22_29816997_C_T C T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=7.305;CADD_Rawscore=0.691416;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||5/19|ENST00000307790.8:c.542-924G>A|||||||rs17711377||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||6/20|ENST00000397771.6:c.542-924G>A|||||||rs17711377||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29816997C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs17711377|4895|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||6/7|ENST00000431535.5:c.542-924G>A|||||||rs17711377||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-924G>A|||||||rs17711377||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||6/20|ENST00000458594.5:c.*552-924G>A|||||||rs17711377||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29816997C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||||||||||rs17711377|3455|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29816997C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs17711377|257|-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||3/4|ENST00000495967.5:n.399-924G>A|||||||rs17711377||-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||4/18|ENST00000542393.5:c.314-924G>A|||||||rs17711377||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||4/18|NM_001242906.2:c.314-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||5/19|NM_001369920.1:c.542-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||7/21|NM_001369921.1:c.542-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||6/20|NM_001369922.1:c.542-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||6/20|NM_001369923.1:c.542-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||5/19|NM_001369924.1:c.542-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||4/18|NM_001369925.1:c.383-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||5/19|NM_001369926.1:c.383-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||4/18|NM_001369927.1:c.383-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||6/20|NM_001369928.1:c.383-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||4/18|NM_001369929.1:c.383-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||4/17|NM_001369930.1:c.383-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||8/22|NM_001369931.1:c.200-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||6/20|NM_001369932.1:c.200-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||5/19|NM_001369933.1:c.200-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||4/18|NM_001369934.1:c.200-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||6/20|NM_001369935.1:c.200-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||3/17|NM_001369936.1:c.200-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||4/18|NM_001369937.1:c.200-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||6/20|NM_001369938.1:c.200-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||4/18|NM_001369939.1:c.200-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||5/19|NM_001369940.1:c.200-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||4/18|NM_001369941.1:c.200-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||2/16|NM_001369942.1:c.8-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-167-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||4/19|NM_001369945.1:c.-289-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-167-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-167-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||5/20|NM_001369948.1:c.-289-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||3/18|NM_001369949.1:c.-289-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||5/19|NM_032204.5:c.542-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||6/20|XM_011530442.4:c.542-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||7/21|XM_011530443.3:c.542-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||7/21|XM_011530444.3:c.542-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||6/20|XM_011530445.3:c.542-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||5/19|XM_011530448.3:c.383-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||6/20|XM_011530453.3:c.200-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||5/19|XM_011530454.3:c.200-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||4/18|XM_011530455.3:c.200-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||4/18|XM_024452287.2:c.704-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||4/17|XM_024452288.2:c.704-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||4/17|XM_024452289.2:c.704-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||3/17|XM_024452290.2:c.545-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||3/17|XM_024452291.2:c.545-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||4/18|XM_047441538.1:c.704-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||5/19|XM_047441539.1:c.542-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||7/21|XM_047441540.1:c.542-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||5/18|XM_047441541.1:c.542-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||3/16|XM_047441542.1:c.545-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||6/19|XM_047441543.1:c.542-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||7/20|XM_047441544.1:c.542-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||5/18|XM_047441545.1:c.542-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||6/19|XM_047441546.1:c.542-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||5/19|XM_047441547.1:c.383-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||4/17|XM_047441548.1:c.200-924G>A|||||||rs17711377||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29816997C>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|31|-1|31|5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000458594,ENST00000472433,ENST00000478812,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46672;gnomADv4_1_AC_joint_XX=24270;gnomADv4_1_AC_joint_XY=22402;gnomADv4_1_AF_grpmax_joint=0.587394;gnomADv4_1_AF_joint=0.306835;gnomADv4_1_AF_joint_XX=0.312138;gnomADv4_1_AF_joint_XY=0.301288;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152108;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8393;gnomADv4_1_nhomalt_joint_XX=4479;gnomADv4_1_nhomalt_joint_XY=3914;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29817983 chr22_29817983_T_G T G 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=3.897;CADD_Rawscore=0.356108;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||5/19|ENST00000307790.8:c.542-1910A>C|||||||rs249396||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||6/20|ENST00000397771.6:c.542-1910A>C|||||||rs249396||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29817983T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs249396|3909|-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||6/7|ENST00000431535.5:c.542-1910A>C|||||||rs249396||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-1910A>C|||||||rs249396||-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||6/20|ENST00000458594.5:c.*552-1910A>C|||||||rs249396||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||T|T||||chr22:g.29817983T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs249396|4369|-1||HGNC|HGNC:24103|2||||||||Ensembl||T|T||||chr22:g.29817983T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs249396|4159|-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29817983T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||||||||||rs249396|4441|-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29817983T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs249396|1243|-1||HGNC|HGNC:24103|5||||||||Ensembl||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||3/4|ENST00000495967.5:n.399-1910A>C|||||||rs249396||-1||HGNC|HGNC:24103|4||||||||Ensembl||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||4/18|ENST00000542393.5:c.314-1910A>C|||||||rs249396||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||4/18|NM_001242906.2:c.314-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||5/19|NM_001369920.1:c.542-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||7/21|NM_001369921.1:c.542-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||6/20|NM_001369922.1:c.542-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||6/20|NM_001369923.1:c.542-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||5/19|NM_001369924.1:c.542-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||4/18|NM_001369925.1:c.383-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||5/19|NM_001369926.1:c.383-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||4/18|NM_001369927.1:c.383-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||6/20|NM_001369928.1:c.383-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||4/18|NM_001369929.1:c.383-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||4/17|NM_001369930.1:c.383-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||8/22|NM_001369931.1:c.200-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||6/20|NM_001369932.1:c.200-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||5/19|NM_001369933.1:c.200-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||4/18|NM_001369934.1:c.200-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||6/20|NM_001369935.1:c.200-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||3/17|NM_001369936.1:c.200-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||4/18|NM_001369937.1:c.200-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||6/20|NM_001369938.1:c.200-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||4/18|NM_001369939.1:c.200-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||5/19|NM_001369940.1:c.200-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||4/18|NM_001369941.1:c.200-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||2/16|NM_001369942.1:c.8-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-167-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||4/19|NM_001369945.1:c.-289-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-167-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-167-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||5/20|NM_001369948.1:c.-289-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||3/18|NM_001369949.1:c.-289-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||5/19|NM_032204.5:c.542-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||6/20|XM_011530442.4:c.542-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||7/21|XM_011530443.3:c.542-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||7/21|XM_011530444.3:c.542-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||6/20|XM_011530445.3:c.542-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||5/19|XM_011530448.3:c.383-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||6/20|XM_011530453.3:c.200-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||5/19|XM_011530454.3:c.200-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||4/18|XM_011530455.3:c.200-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||4/18|XM_024452287.2:c.704-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||4/17|XM_024452288.2:c.704-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||4/17|XM_024452289.2:c.704-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||3/17|XM_024452290.2:c.545-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||3/17|XM_024452291.2:c.545-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||4/18|XM_047441538.1:c.704-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||5/19|XM_047441539.1:c.542-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||7/21|XM_047441540.1:c.542-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||5/18|XM_047441541.1:c.542-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||3/16|XM_047441542.1:c.545-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||6/19|XM_047441543.1:c.542-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||7/20|XM_047441544.1:c.542-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||5/18|XM_047441545.1:c.542-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||6/19|XM_047441546.1:c.542-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||5/19|XM_047441547.1:c.383-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||4/17|XM_047441548.1:c.200-1910A>C|||||||rs249396||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||T|T||||chr22:g.29817983T>G|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|-7|42|22|42;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000458594,ENST00000463203,ENST00000465667,ENST00000472433,ENST00000478812,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84707;gnomADv4_1_AC_joint_XX=44092;gnomADv4_1_AC_joint_XY=40615;gnomADv4_1_AF_grpmax_joint=0.679296;gnomADv4_1_AF_joint=0.559329;gnomADv4_1_AF_joint_XX=0.569193;gnomADv4_1_AF_joint_XY=0.549;gnomADv4_1_AN_grpmax_joint=41278;gnomADv4_1_AN_joint=151444;gnomADv4_1_AN_joint_XX=77464;gnomADv4_1_AN_joint_XY=73980;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24370;gnomADv4_1_nhomalt_joint_XX=12885;gnomADv4_1_nhomalt_joint_XY=11485;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29818047 chr22_29818047_A_G A G 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.287;CADD_Rawscore=-0.333793;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||5/19|ENST00000307790.8:c.542-1974T>C|||||||rs249397||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||6/20|ENST00000397771.6:c.542-1974T>C|||||||rs249397||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29818047A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs249397|3845|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||6/7|ENST00000431535.5:c.542-1974T>C|||||||rs249397||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-1974T>C|||||||rs249397||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||6/20|ENST00000458594.5:c.*552-1974T>C|||||||rs249397||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29818047A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs249397|4305|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29818047A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs249397|4095|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29818047A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||||||||||rs249397|4505|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29818047A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs249397|1307|-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||3/4|ENST00000495967.5:n.399-1974T>C|||||||rs249397||-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||4/18|ENST00000542393.5:c.314-1974T>C|||||||rs249397||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||4/18|NM_001242906.2:c.314-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||5/19|NM_001369920.1:c.542-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||7/21|NM_001369921.1:c.542-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||6/20|NM_001369922.1:c.542-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||6/20|NM_001369923.1:c.542-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||5/19|NM_001369924.1:c.542-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||4/18|NM_001369925.1:c.383-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||5/19|NM_001369926.1:c.383-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||4/18|NM_001369927.1:c.383-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||6/20|NM_001369928.1:c.383-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||4/18|NM_001369929.1:c.383-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||4/17|NM_001369930.1:c.383-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||8/22|NM_001369931.1:c.200-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||6/20|NM_001369932.1:c.200-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||5/19|NM_001369933.1:c.200-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||4/18|NM_001369934.1:c.200-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||6/20|NM_001369935.1:c.200-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||3/17|NM_001369936.1:c.200-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||4/18|NM_001369937.1:c.200-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||6/20|NM_001369938.1:c.200-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||4/18|NM_001369939.1:c.200-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||5/19|NM_001369940.1:c.200-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||4/18|NM_001369941.1:c.200-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||2/16|NM_001369942.1:c.8-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-167-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||4/19|NM_001369945.1:c.-289-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-167-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-167-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||5/20|NM_001369948.1:c.-289-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||3/18|NM_001369949.1:c.-289-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||5/19|NM_032204.5:c.542-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||6/20|XM_011530442.4:c.542-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||7/21|XM_011530443.3:c.542-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||7/21|XM_011530444.3:c.542-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||6/20|XM_011530445.3:c.542-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||5/19|XM_011530448.3:c.383-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||6/20|XM_011530453.3:c.200-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||5/19|XM_011530454.3:c.200-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||4/18|XM_011530455.3:c.200-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||4/18|XM_024452287.2:c.704-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||4/17|XM_024452288.2:c.704-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||4/17|XM_024452289.2:c.704-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||3/17|XM_024452290.2:c.545-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||3/17|XM_024452291.2:c.545-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||4/18|XM_047441538.1:c.704-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||5/19|XM_047441539.1:c.542-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||7/21|XM_047441540.1:c.542-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||5/18|XM_047441541.1:c.542-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||3/16|XM_047441542.1:c.545-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||6/19|XM_047441543.1:c.542-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||7/20|XM_047441544.1:c.542-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||5/18|XM_047441545.1:c.542-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||6/19|XM_047441546.1:c.542-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||5/19|XM_047441547.1:c.383-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||4/17|XM_047441548.1:c.200-1974T>C|||||||rs249397||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29818047A>G|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|-22|50|26|9;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000458594,ENST00000463203,ENST00000465667,ENST00000472433,ENST00000478812,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=83521;gnomADv4_1_AC_joint_XX=43609;gnomADv4_1_AC_joint_XY=39912;gnomADv4_1_AF_grpmax_joint=0.676839;gnomADv4_1_AF_joint=0.557111;gnomADv4_1_AF_joint_XX=0.567264;gnomADv4_1_AF_joint_XY=0.546425;gnomADv4_1_AN_grpmax_joint=40602;gnomADv4_1_AN_joint=149918;gnomADv4_1_AN_joint_XX=76876;gnomADv4_1_AN_joint_XY=73042;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23968;gnomADv4_1_nhomalt_joint_XX=12711;gnomADv4_1_nhomalt_joint_XY=11257;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29818403 chr22_29818403_TACACACACACACACACACACACACACACACACACACACACACACACACACACACAC_T TACACACACACACACACACACACACACACACACACACACACACACACACACACACAC T 20 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=20;CSQ=-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||5/19|ENST00000307790.8:c.542-2386_542-2331del|||||||rs35685093||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||6/20|ENST00000397771.6:c.542-2386_542-2331del|||||||rs35685093||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs35685093|3433|-1||HGNC|HGNC:24103|3||||||||Ensembl||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||6/7|ENST00000431535.5:c.542-2386_542-2331del|||||||rs35685093||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-2386_330-2331del|||||||rs35685093||-1||HGNC|HGNC:24103|3||||||||Ensembl||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||6/20|ENST00000458594.5:c.*552-2386_*552-2331del|||||||rs35685093||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs35685093|3893|-1||HGNC|HGNC:24103|2||||||||Ensembl||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs35685093|3683|-1||HGNC|HGNC:24103|3||||||||Ensembl||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||||||||||rs35685093|4862|-1||HGNC|HGNC:24103|3||||||||Ensembl||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs35685093|1664|-1||HGNC|HGNC:24103|5||||||||Ensembl||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||3/4|ENST00000495967.5:n.399-2386_399-2331del|||||||rs35685093||-1||HGNC|HGNC:24103|4||||||||Ensembl||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||4/18|ENST00000542393.5:c.314-2386_314-2331del|||||||rs35685093||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||4/18|NM_001242906.2:c.314-2386_314-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||5/19|NM_001369920.1:c.542-2386_542-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||7/21|NM_001369921.1:c.542-2386_542-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||6/20|NM_001369922.1:c.542-2386_542-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||6/20|NM_001369923.1:c.542-2386_542-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||5/19|NM_001369924.1:c.542-2386_542-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||4/18|NM_001369925.1:c.383-2386_383-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||5/19|NM_001369926.1:c.383-2386_383-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||4/18|NM_001369927.1:c.383-2386_383-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||6/20|NM_001369928.1:c.383-2386_383-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||4/18|NM_001369929.1:c.383-2386_383-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||4/17|NM_001369930.1:c.383-2386_383-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||8/22|NM_001369931.1:c.200-2386_200-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||6/20|NM_001369932.1:c.200-2386_200-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||5/19|NM_001369933.1:c.200-2386_200-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||4/18|NM_001369934.1:c.200-2386_200-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||6/20|NM_001369935.1:c.200-2386_200-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||3/17|NM_001369936.1:c.200-2386_200-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||4/18|NM_001369937.1:c.200-2386_200-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||6/20|NM_001369938.1:c.200-2386_200-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||4/18|NM_001369939.1:c.200-2386_200-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||5/19|NM_001369940.1:c.200-2386_200-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||4/18|NM_001369941.1:c.200-2386_200-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||2/16|NM_001369942.1:c.8-2386_8-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-167-2386_-167-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-2386_-167-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||4/19|NM_001369945.1:c.-289-2386_-289-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-167-2386_-167-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-167-2386_-167-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||5/20|NM_001369948.1:c.-289-2386_-289-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||3/18|NM_001369949.1:c.-289-2386_-289-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-2386_-289-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||5/19|NM_032204.5:c.542-2386_542-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||6/20|XM_011530442.4:c.542-2386_542-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||7/21|XM_011530443.3:c.542-2386_542-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||7/21|XM_011530444.3:c.542-2386_542-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||6/20|XM_011530445.3:c.542-2386_542-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||5/19|XM_011530448.3:c.383-2386_383-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||6/20|XM_011530453.3:c.200-2386_200-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||5/19|XM_011530454.3:c.200-2386_200-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||4/18|XM_011530455.3:c.200-2386_200-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||4/18|XM_024452287.2:c.704-2386_704-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||4/17|XM_024452288.2:c.704-2386_704-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||4/17|XM_024452289.2:c.704-2386_704-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||3/17|XM_024452290.2:c.545-2386_545-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||3/17|XM_024452291.2:c.545-2386_545-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||4/18|XM_047441538.1:c.704-2386_704-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||5/19|XM_047441539.1:c.542-2386_542-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||7/21|XM_047441540.1:c.542-2386_542-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||5/18|XM_047441541.1:c.542-2386_542-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||3/16|XM_047441542.1:c.545-2386_545-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||6/19|XM_047441543.1:c.542-2386_542-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||7/20|XM_047441544.1:c.542-2386_542-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||5/18|XM_047441545.1:c.542-2386_542-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||6/19|XM_047441546.1:c.542-2386_542-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||5/19|XM_047441547.1:c.383-2386_383-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||4/17|XM_047441548.1:c.200-2386_200-2331del|||||||rs35685093||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC|ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC||||chr22:g.29818423_29818478del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000458594,ENST00000463203,ENST00000465667,ENST00000472433,ENST00000478812,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59350;gnomADv4_1_AC_joint_XX=31310;gnomADv4_1_AC_joint_XY=28040;gnomADv4_1_AF_grpmax_joint=0.659962;gnomADv4_1_AF_joint=0.548897;gnomADv4_1_AF_joint_XX=0.551329;gnomADv4_1_AF_joint_XY=0.546205;gnomADv4_1_AN_grpmax_joint=4176;gnomADv4_1_AN_joint=108126;gnomADv4_1_AN_joint_XX=56790;gnomADv4_1_AN_joint_XY=51336;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13255;gnomADv4_1_nhomalt_joint_XX=7117;gnomADv4_1_nhomalt_joint_XY=6138;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29818477 chr22_29818477_C_G C G 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=23;CADD_PHREDscore=0.022;CADD_Rawscore=-1.02876;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||5/19|ENST00000307790.8:c.542-2404G>C|||||||rs60665668||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||6/20|ENST00000397771.6:c.542-2404G>C|||||||rs60665668||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29818477C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs60665668|3415|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||6/7|ENST00000431535.5:c.542-2404G>C|||||||rs60665668||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-2404G>C|||||||rs60665668||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||6/20|ENST00000458594.5:c.*552-2404G>C|||||||rs60665668||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29818477C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs60665668|3875|-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29818477C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs60665668|3665|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29818477C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000472433|protein_coding_CDS_not_defined||||||||||rs60665668|4935|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29818477C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs60665668|1737|-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||3/4|ENST00000495967.5:n.399-2404G>C|||||||rs60665668||-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||4/18|ENST00000542393.5:c.314-2404G>C|||||||rs60665668||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||4/18|NM_001242906.2:c.314-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||5/19|NM_001369920.1:c.542-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||7/21|NM_001369921.1:c.542-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||6/20|NM_001369922.1:c.542-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||6/20|NM_001369923.1:c.542-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||5/19|NM_001369924.1:c.542-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||4/18|NM_001369925.1:c.383-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||5/19|NM_001369926.1:c.383-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||4/18|NM_001369927.1:c.383-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||6/20|NM_001369928.1:c.383-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||4/18|NM_001369929.1:c.383-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||4/17|NM_001369930.1:c.383-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||8/22|NM_001369931.1:c.200-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||6/20|NM_001369932.1:c.200-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||5/19|NM_001369933.1:c.200-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||4/18|NM_001369934.1:c.200-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||6/20|NM_001369935.1:c.200-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||3/17|NM_001369936.1:c.200-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||4/18|NM_001369937.1:c.200-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||6/20|NM_001369938.1:c.200-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||4/18|NM_001369939.1:c.200-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||5/19|NM_001369940.1:c.200-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||4/18|NM_001369941.1:c.200-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||2/16|NM_001369942.1:c.8-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-167-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||4/19|NM_001369945.1:c.-289-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-167-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-167-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||5/20|NM_001369948.1:c.-289-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||3/18|NM_001369949.1:c.-289-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||5/19|NM_032204.5:c.542-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||6/20|XM_011530442.4:c.542-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||7/21|XM_011530443.3:c.542-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||7/21|XM_011530444.3:c.542-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||6/20|XM_011530445.3:c.542-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||5/19|XM_011530448.3:c.383-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||6/20|XM_011530453.3:c.200-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||5/19|XM_011530454.3:c.200-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||4/18|XM_011530455.3:c.200-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||4/18|XM_024452287.2:c.704-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||4/17|XM_024452288.2:c.704-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||4/17|XM_024452289.2:c.704-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||3/17|XM_024452290.2:c.545-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||3/17|XM_024452291.2:c.545-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||4/18|XM_047441538.1:c.704-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||5/19|XM_047441539.1:c.542-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||7/21|XM_047441540.1:c.542-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||5/18|XM_047441541.1:c.542-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||3/16|XM_047441542.1:c.545-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||6/19|XM_047441543.1:c.542-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||7/20|XM_047441544.1:c.542-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||5/18|XM_047441545.1:c.542-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||6/19|XM_047441546.1:c.542-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||5/19|XM_047441547.1:c.383-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||4/17|XM_047441548.1:c.200-2404G>C|||||||rs60665668||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29818477C>G|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|-3|1|-3|1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000458594,ENST00000463203,ENST00000465667,ENST00000472433,ENST00000478812,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13280;gnomADv4_1_AC_joint_XX=6756;gnomADv4_1_AC_joint_XY=6524;gnomADv4_1_AF_grpmax_joint=0.228873;gnomADv4_1_AF_joint=0.154178;gnomADv4_1_AF_joint_XX=0.151453;gnomADv4_1_AF_joint_XY=0.157106;gnomADv4_1_AN_grpmax_joint=3408;gnomADv4_1_AN_joint=86134;gnomADv4_1_AN_joint_XX=44608;gnomADv4_1_AN_joint_XY=41526;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=979;gnomADv4_1_nhomalt_joint_XX=521;gnomADv4_1_nhomalt_joint_XY=458;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29818715 chr22_29818715_G_C G C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.635;CADD_Rawscore=0.332812;CSQ=C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||5/19|ENST00000307790.8:c.542-2642C>G|||||||rs249398||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||6/20|ENST00000397771.6:c.542-2642C>G|||||||rs249398||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29818715G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs249398|3177|-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||6/7|ENST00000431535.5:c.542-2642C>G|||||||rs249398||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-2642C>G|||||||rs249398||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||6/20|ENST00000458594.5:c.*552-2642C>G|||||||rs249398||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29818715G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs249398|3637|-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29818715G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs249398|3427|-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29818715G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs249398|1975|-1||HGNC|HGNC:24103|5||||||||Ensembl||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||3/4|ENST00000495967.5:n.399-2642C>G|||||||rs249398||-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||4/18|ENST00000542393.5:c.314-2642C>G|||||||rs249398||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||4/18|NM_001242906.2:c.314-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||5/19|NM_001369920.1:c.542-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||7/21|NM_001369921.1:c.542-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||6/20|NM_001369922.1:c.542-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||6/20|NM_001369923.1:c.542-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||5/19|NM_001369924.1:c.542-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||4/18|NM_001369925.1:c.383-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||5/19|NM_001369926.1:c.383-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||4/18|NM_001369927.1:c.383-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||6/20|NM_001369928.1:c.383-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||4/18|NM_001369929.1:c.383-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||4/17|NM_001369930.1:c.383-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||8/22|NM_001369931.1:c.200-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||6/20|NM_001369932.1:c.200-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||5/19|NM_001369933.1:c.200-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||4/18|NM_001369934.1:c.200-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||6/20|NM_001369935.1:c.200-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||3/17|NM_001369936.1:c.200-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||4/18|NM_001369937.1:c.200-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||6/20|NM_001369938.1:c.200-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||4/18|NM_001369939.1:c.200-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||5/19|NM_001369940.1:c.200-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||4/18|NM_001369941.1:c.200-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||2/16|NM_001369942.1:c.8-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-167-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||4/19|NM_001369945.1:c.-289-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-167-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-167-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||5/20|NM_001369948.1:c.-289-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||3/18|NM_001369949.1:c.-289-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||5/19|NM_032204.5:c.542-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||6/20|XM_011530442.4:c.542-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||7/21|XM_011530443.3:c.542-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||7/21|XM_011530444.3:c.542-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||6/20|XM_011530445.3:c.542-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||5/19|XM_011530448.3:c.383-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||6/20|XM_011530453.3:c.200-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||5/19|XM_011530454.3:c.200-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||4/18|XM_011530455.3:c.200-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||4/18|XM_024452287.2:c.704-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||4/17|XM_024452288.2:c.704-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||4/17|XM_024452289.2:c.704-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||3/17|XM_024452290.2:c.545-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||3/17|XM_024452291.2:c.545-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||4/18|XM_047441538.1:c.704-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||5/19|XM_047441539.1:c.542-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||7/21|XM_047441540.1:c.542-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||5/18|XM_047441541.1:c.542-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||3/16|XM_047441542.1:c.545-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||6/19|XM_047441543.1:c.542-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||7/20|XM_047441544.1:c.542-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||5/18|XM_047441545.1:c.542-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||6/19|XM_047441546.1:c.542-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||5/19|XM_047441547.1:c.383-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||4/17|XM_047441548.1:c.200-2642C>G|||||||rs249398||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||G|G||||chr22:g.29818715G>C|||||||||||||;SpliceAI=C|ASCC2|0.00|0.00|0.00|0.00|0|-36|42|10;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000458594,ENST00000463203,ENST00000465667,ENST00000478812,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64987;gnomADv4_1_AC_joint_XX=33854;gnomADv4_1_AC_joint_XY=31133;gnomADv4_1_AF_grpmax_joint=0.588373;gnomADv4_1_AF_joint=0.428488;gnomADv4_1_AF_joint_XX=0.436736;gnomADv4_1_AF_joint_XY=0.419865;gnomADv4_1_AN_grpmax_joint=5126;gnomADv4_1_AN_joint=151666;gnomADv4_1_AN_joint_XX=77516;gnomADv4_1_AN_joint_XY=74150;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14393;gnomADv4_1_nhomalt_joint_XX=7659;gnomADv4_1_nhomalt_joint_XY=6734;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29819729 chr22_29819729_G_A G A 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.353;CADD_Rawscore=-0.28069;CSQ=A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||5/19|ENST00000307790.8:c.541+2606C>T|||||||rs9614063||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||6/20|ENST00000397771.6:c.541+2606C>T|||||||rs9614063||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29819729G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs9614063|2163|-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||6/7|ENST00000431535.5:c.541+2606C>T|||||||rs9614063||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-3656C>T|||||||rs9614063||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||6/20|ENST00000458594.5:c.*551+2606C>T|||||||rs9614063||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29819729G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs9614063|2623|-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29819729G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs9614063|2413|-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29819729G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs9614063|2989|-1||HGNC|HGNC:24103|5||||||||Ensembl||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||3/4|ENST00000495967.5:n.398+2606C>T|||||||rs9614063||-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||4/18|ENST00000542393.5:c.313+2606C>T|||||||rs9614063||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||4/18|NM_001242906.2:c.313+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||5/19|NM_001369920.1:c.541+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||7/21|NM_001369921.1:c.541+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||6/20|NM_001369922.1:c.541+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||6/20|NM_001369923.1:c.541+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||5/19|NM_001369924.1:c.541+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||4/18|NM_001369925.1:c.382+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||5/19|NM_001369926.1:c.382+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||4/18|NM_001369927.1:c.382+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||6/20|NM_001369928.1:c.382+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||4/18|NM_001369929.1:c.382+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||4/17|NM_001369930.1:c.382+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||8/22|NM_001369931.1:c.199+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||6/20|NM_001369932.1:c.199+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||5/19|NM_001369933.1:c.199+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||4/18|NM_001369934.1:c.199+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||6/20|NM_001369935.1:c.199+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||3/17|NM_001369936.1:c.199+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||4/18|NM_001369937.1:c.199+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||6/20|NM_001369938.1:c.199+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||4/18|NM_001369939.1:c.199+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||5/19|NM_001369940.1:c.199+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||4/18|NM_001369941.1:c.199+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||2/16|NM_001369942.1:c.7+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-167-3656C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-3656C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||4/19|NM_001369945.1:c.-290+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-167-3656C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-167-3656C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||5/20|NM_001369948.1:c.-290+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||3/18|NM_001369949.1:c.-290+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-3656C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||5/19|NM_032204.5:c.541+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||6/20|XM_011530442.4:c.541+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||7/21|XM_011530443.3:c.541+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||7/21|XM_011530444.3:c.541+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||6/20|XM_011530445.3:c.541+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||5/19|XM_011530448.3:c.382+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||6/20|XM_011530453.3:c.199+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||5/19|XM_011530454.3:c.199+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||4/18|XM_011530455.3:c.199+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||4/18|XM_024452287.2:c.703+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||4/17|XM_024452288.2:c.703+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||4/17|XM_024452289.2:c.703+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||3/17|XM_024452290.2:c.544+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||3/17|XM_024452291.2:c.544+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||4/18|XM_047441538.1:c.703+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||5/19|XM_047441539.1:c.541+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||7/21|XM_047441540.1:c.541+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||5/18|XM_047441541.1:c.541+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||3/16|XM_047441542.1:c.544+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||6/19|XM_047441543.1:c.541+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||7/20|XM_047441544.1:c.541+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||5/18|XM_047441545.1:c.541+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||6/19|XM_047441546.1:c.541+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||5/19|XM_047441547.1:c.382+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||4/17|XM_047441548.1:c.199+2606C>T|||||||rs9614063||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||G|G||||chr22:g.29819729G>A|||||||||||||;SpliceAI=A|ASCC2|0.00|0.00|0.00|0.00|-8|35|15|-36;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000458594,ENST00000463203,ENST00000465667,ENST00000478812,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20899;gnomADv4_1_AC_joint_XX=10595;gnomADv4_1_AC_joint_XY=10304;gnomADv4_1_AF_grpmax_joint=0.242022;gnomADv4_1_AF_joint=0.137421;gnomADv4_1_AF_joint_XX=0.136242;gnomADv4_1_AF_joint_XY=0.138655;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1619;gnomADv4_1_nhomalt_joint_XX=840;gnomADv4_1_nhomalt_joint_XY=779;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29819914 chr22_29819914_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.204;CADD_Rawscore=0.030468;CSQ=C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||5/19|ENST00000307790.8:c.541+2421A>G|||||||rs249400||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||6/20|ENST00000397771.6:c.541+2421A>G|||||||rs249400||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29819914T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs249400|1978|-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||6/7|ENST00000431535.5:c.541+2421A>G|||||||rs249400||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-3841A>G|||||||rs249400||-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||6/20|ENST00000458594.5:c.*551+2421A>G|||||||rs249400||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||T|T||||chr22:g.29819914T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs249400|2438|-1||HGNC|HGNC:24103|2||||||||Ensembl||T|T||||chr22:g.29819914T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs249400|2228|-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29819914T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs249400|3174|-1||HGNC|HGNC:24103|5||||||||Ensembl||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||3/4|ENST00000495967.5:n.398+2421A>G|||||||rs249400||-1||HGNC|HGNC:24103|4||||||||Ensembl||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||4/18|ENST00000542393.5:c.313+2421A>G|||||||rs249400||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||4/18|NM_001242906.2:c.313+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||5/19|NM_001369920.1:c.541+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||7/21|NM_001369921.1:c.541+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||6/20|NM_001369922.1:c.541+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||6/20|NM_001369923.1:c.541+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||5/19|NM_001369924.1:c.541+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||4/18|NM_001369925.1:c.382+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||5/19|NM_001369926.1:c.382+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||4/18|NM_001369927.1:c.382+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||6/20|NM_001369928.1:c.382+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||4/18|NM_001369929.1:c.382+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||4/17|NM_001369930.1:c.382+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||8/22|NM_001369931.1:c.199+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||6/20|NM_001369932.1:c.199+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||5/19|NM_001369933.1:c.199+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||4/18|NM_001369934.1:c.199+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||6/20|NM_001369935.1:c.199+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||3/17|NM_001369936.1:c.199+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||4/18|NM_001369937.1:c.199+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||6/20|NM_001369938.1:c.199+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||4/18|NM_001369939.1:c.199+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||5/19|NM_001369940.1:c.199+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||4/18|NM_001369941.1:c.199+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||2/16|NM_001369942.1:c.7+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-167-3841A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-3841A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||4/19|NM_001369945.1:c.-290+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-167-3841A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-167-3841A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||5/20|NM_001369948.1:c.-290+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||3/18|NM_001369949.1:c.-290+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-3841A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||5/19|NM_032204.5:c.541+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||6/20|XM_011530442.4:c.541+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||7/21|XM_011530443.3:c.541+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||7/21|XM_011530444.3:c.541+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||6/20|XM_011530445.3:c.541+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||5/19|XM_011530448.3:c.382+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||6/20|XM_011530453.3:c.199+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||5/19|XM_011530454.3:c.199+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||4/18|XM_011530455.3:c.199+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||4/18|XM_024452287.2:c.703+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||4/17|XM_024452288.2:c.703+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||4/17|XM_024452289.2:c.703+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||3/17|XM_024452290.2:c.544+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||3/17|XM_024452291.2:c.544+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||4/18|XM_047441538.1:c.703+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||5/19|XM_047441539.1:c.541+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||7/21|XM_047441540.1:c.541+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||5/18|XM_047441541.1:c.541+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||3/16|XM_047441542.1:c.544+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||6/19|XM_047441543.1:c.541+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||7/20|XM_047441544.1:c.541+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||5/18|XM_047441545.1:c.541+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||6/19|XM_047441546.1:c.541+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||5/19|XM_047441547.1:c.382+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||4/17|XM_047441548.1:c.199+2421A>G|||||||rs249400||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||T|T||||chr22:g.29819914T>C|||||||||||||;SpliceAI=C|ASCC2|0.00|0.00|0.00|0.00|-27|36|9|-21;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000458594,ENST00000463203,ENST00000465667,ENST00000478812,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119466;gnomADv4_1_AC_joint_XX=61323;gnomADv4_1_AC_joint_XY=58143;gnomADv4_1_AF_grpmax_joint=0.924765;gnomADv4_1_AF_joint=0.786405;gnomADv4_1_AF_joint_XX=0.789492;gnomADv4_1_AF_joint_XY=0.783176;gnomADv4_1_AN_grpmax_joint=41470;gnomADv4_1_AN_joint=151914;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=74240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=47585;gnomADv4_1_nhomalt_joint_XX=24567;gnomADv4_1_nhomalt_joint_XY=23018;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29820179 chr22_29820179_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.599;CADD_Rawscore=-0.147901;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||5/19|ENST00000307790.8:c.541+2156G>A|||||||rs249401||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||6/20|ENST00000397771.6:c.541+2156G>A|||||||rs249401||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29820179C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs249401|1713|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||6/7|ENST00000431535.5:c.541+2156G>A|||||||rs249401||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-4106G>A|||||||rs249401||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29820179C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs249401|4929|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||6/20|ENST00000458594.5:c.*551+2156G>A|||||||rs249401||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29820179C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs249401|4982|-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29820179C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs249401|4924|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29820179C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs249401|2173|-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29820179C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs249401|1963|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29820179C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs249401|3439|-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29820179C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs249401|4908|-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||3/4|ENST00000495967.5:n.398+2156G>A|||||||rs249401||-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||4/18|ENST00000542393.5:c.313+2156G>A|||||||rs249401||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||4/18|NM_001242906.2:c.313+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||5/19|NM_001369920.1:c.541+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||7/21|NM_001369921.1:c.541+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||6/20|NM_001369922.1:c.541+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||6/20|NM_001369923.1:c.541+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||5/19|NM_001369924.1:c.541+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||4/18|NM_001369925.1:c.382+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||5/19|NM_001369926.1:c.382+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||4/18|NM_001369927.1:c.382+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||6/20|NM_001369928.1:c.382+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||4/18|NM_001369929.1:c.382+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||4/17|NM_001369930.1:c.382+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||8/22|NM_001369931.1:c.199+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||6/20|NM_001369932.1:c.199+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||5/19|NM_001369933.1:c.199+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||4/18|NM_001369934.1:c.199+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||6/20|NM_001369935.1:c.199+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||3/17|NM_001369936.1:c.199+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||4/18|NM_001369937.1:c.199+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||6/20|NM_001369938.1:c.199+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||4/18|NM_001369939.1:c.199+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||5/19|NM_001369940.1:c.199+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||4/18|NM_001369941.1:c.199+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||2/16|NM_001369942.1:c.7+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-167-4106G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-4106G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||4/19|NM_001369945.1:c.-290+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-167-4106G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-167-4106G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||5/20|NM_001369948.1:c.-290+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||3/18|NM_001369949.1:c.-290+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-4106G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||5/19|NM_032204.5:c.541+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||6/20|XM_011530442.4:c.541+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||7/21|XM_011530443.3:c.541+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||7/21|XM_011530444.3:c.541+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||6/20|XM_011530445.3:c.541+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||5/19|XM_011530448.3:c.382+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||6/20|XM_011530453.3:c.199+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||5/19|XM_011530454.3:c.199+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||4/18|XM_011530455.3:c.199+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||4/18|XM_024452287.2:c.703+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||4/17|XM_024452288.2:c.703+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||4/17|XM_024452289.2:c.703+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||3/17|XM_024452290.2:c.544+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||3/17|XM_024452291.2:c.544+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||4/18|XM_047441538.1:c.703+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||5/19|XM_047441539.1:c.541+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||7/21|XM_047441540.1:c.541+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||5/18|XM_047441541.1:c.541+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||3/16|XM_047441542.1:c.544+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||6/19|XM_047441543.1:c.541+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||7/20|XM_047441544.1:c.541+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||5/18|XM_047441545.1:c.541+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||6/19|XM_047441546.1:c.541+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||5/19|XM_047441547.1:c.382+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||4/17|XM_047441548.1:c.199+2156G>A|||||||rs249401||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29820179C>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|-10|-1|25|-45;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000478812,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78934;gnomADv4_1_AC_joint_XX=41018;gnomADv4_1_AC_joint_XY=37916;gnomADv4_1_AF_grpmax_joint=0.669748;gnomADv4_1_AF_joint=0.524269;gnomADv4_1_AF_joint_XX=0.532093;gnomADv4_1_AF_joint_XY=0.516061;gnomADv4_1_AN_grpmax_joint=5084;gnomADv4_1_AN_joint=150560;gnomADv4_1_AN_joint_XX=77088;gnomADv4_1_AN_joint_XY=73472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=20924;gnomADv4_1_nhomalt_joint_XX=11051;gnomADv4_1_nhomalt_joint_XY=9873;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29820911 chr22_29820911_C_A C A 39 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.287;CADD_Rawscore=-0.333802;CSQ=A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||5/19|ENST00000307790.8:c.541+1424G>T|||||||rs9608816||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||6/20|ENST00000397771.6:c.541+1424G>T|||||||rs9608816||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29820911C>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs9608816|981|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||6/7|ENST00000431535.5:c.541+1424G>T|||||||rs9608816||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-4838G>T|||||||rs9608816||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29820911C>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs9608816|4197|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||C|C||||chr22:g.29820911C>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs9608816|4783|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||6/20|ENST00000458594.5:c.*551+1424G>T|||||||rs9608816||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29820911C>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs9608816|4250|-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29820911C>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs9608816|4192|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29820911C>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs9608816|1441|-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29820911C>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs9608816|1231|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29820911C>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs9608816|4303|-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29820911C>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs9608816|4171|-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29820911C>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs9608816|4176|-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||3/4|ENST00000495967.5:n.398+1424G>T|||||||rs9608816||-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||4/18|ENST00000542393.5:c.313+1424G>T|||||||rs9608816||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||4/18|NM_001242906.2:c.313+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||5/19|NM_001369920.1:c.541+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||7/21|NM_001369921.1:c.541+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||6/20|NM_001369922.1:c.541+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||6/20|NM_001369923.1:c.541+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||5/19|NM_001369924.1:c.541+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||4/18|NM_001369925.1:c.382+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||5/19|NM_001369926.1:c.382+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||4/18|NM_001369927.1:c.382+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||6/20|NM_001369928.1:c.382+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||4/18|NM_001369929.1:c.382+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||4/17|NM_001369930.1:c.382+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||8/22|NM_001369931.1:c.199+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||6/20|NM_001369932.1:c.199+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||5/19|NM_001369933.1:c.199+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||4/18|NM_001369934.1:c.199+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||6/20|NM_001369935.1:c.199+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||3/17|NM_001369936.1:c.199+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||4/18|NM_001369937.1:c.199+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||6/20|NM_001369938.1:c.199+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||4/18|NM_001369939.1:c.199+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||5/19|NM_001369940.1:c.199+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||4/18|NM_001369941.1:c.199+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||2/16|NM_001369942.1:c.7+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-168+4176G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-4838G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||4/19|NM_001369945.1:c.-290+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-168+4176G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-168+4176G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||5/20|NM_001369948.1:c.-290+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||3/18|NM_001369949.1:c.-290+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-4838G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||5/19|NM_032204.5:c.541+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||6/20|XM_011530442.4:c.541+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||7/21|XM_011530443.3:c.541+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||7/21|XM_011530444.3:c.541+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||6/20|XM_011530445.3:c.541+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||5/19|XM_011530448.3:c.382+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||6/20|XM_011530453.3:c.199+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||5/19|XM_011530454.3:c.199+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||4/18|XM_011530455.3:c.199+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||4/18|XM_024452287.2:c.703+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||4/17|XM_024452288.2:c.703+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||4/17|XM_024452289.2:c.703+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||3/17|XM_024452290.2:c.544+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||3/17|XM_024452291.2:c.544+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||4/18|XM_047441538.1:c.703+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||5/19|XM_047441539.1:c.541+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||7/21|XM_047441540.1:c.541+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||5/18|XM_047441541.1:c.541+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||3/16|XM_047441542.1:c.544+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||6/19|XM_047441543.1:c.541+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||7/20|XM_047441544.1:c.541+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||5/18|XM_047441545.1:c.541+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||6/19|XM_047441546.1:c.541+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||5/19|XM_047441547.1:c.382+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||4/17|XM_047441548.1:c.199+1424G>T|||||||rs9608816||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29820911C>A|||1||||||||||;SpliceAI=A|ASCC2|0.01|0.00|0.00|0.00|-8|-33|-8|-33;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000478812,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60818;gnomADv4_1_AC_joint_XX=31926;gnomADv4_1_AC_joint_XY=28892;gnomADv4_1_AF_grpmax_joint=0.680828;gnomADv4_1_AF_joint=0.491284;gnomADv4_1_AF_joint_XX=0.493279;gnomADv4_1_AF_joint_XY=0.489098;gnomADv4_1_AN_grpmax_joint=4684;gnomADv4_1_AN_joint=123794;gnomADv4_1_AN_joint_XX=64722;gnomADv4_1_AN_joint_XY=59072;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13431;gnomADv4_1_nhomalt_joint_XX=7167;gnomADv4_1_nhomalt_joint_XY=6264;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29820993 chr22_29820993_C_A C A 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.232;CADD_Rawscore=0.03645;CSQ=A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||5/19|ENST00000307790.8:c.541+1342G>T|||||||rs6006267||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||6/20|ENST00000397771.6:c.541+1342G>T|||||||rs6006267||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29820993C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs6006267|899|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||6/7|ENST00000431535.5:c.541+1342G>T|||||||rs6006267||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-4920G>T|||||||rs6006267||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29820993C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs6006267|4115|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||C|C||||chr22:g.29820993C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs6006267|4701|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||6/20|ENST00000458594.5:c.*551+1342G>T|||||||rs6006267||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29820993C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs6006267|4168|-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29820993C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs6006267|4110|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29820993C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs6006267|1359|-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29820993C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs6006267|1149|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29820993C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs6006267|4221|-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29820993C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000478812|protein_coding_CDS_not_defined||||||||||rs6006267|4253|-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29820993C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs6006267|4094|-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||3/4|ENST00000495967.5:n.398+1342G>T|||||||rs6006267||-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||4/18|ENST00000542393.5:c.313+1342G>T|||||||rs6006267||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||4/18|NM_001242906.2:c.313+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||5/19|NM_001369920.1:c.541+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||7/21|NM_001369921.1:c.541+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||6/20|NM_001369922.1:c.541+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||6/20|NM_001369923.1:c.541+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||5/19|NM_001369924.1:c.541+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||4/18|NM_001369925.1:c.382+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||5/19|NM_001369926.1:c.382+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||4/18|NM_001369927.1:c.382+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||6/20|NM_001369928.1:c.382+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||4/18|NM_001369929.1:c.382+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||4/17|NM_001369930.1:c.382+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||8/22|NM_001369931.1:c.199+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||6/20|NM_001369932.1:c.199+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||5/19|NM_001369933.1:c.199+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||4/18|NM_001369934.1:c.199+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||6/20|NM_001369935.1:c.199+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||3/17|NM_001369936.1:c.199+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||4/18|NM_001369937.1:c.199+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||6/20|NM_001369938.1:c.199+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||4/18|NM_001369939.1:c.199+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||5/19|NM_001369940.1:c.199+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||4/18|NM_001369941.1:c.199+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||2/16|NM_001369942.1:c.7+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-168+4094G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-4920G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||4/19|NM_001369945.1:c.-290+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-168+4094G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-168+4094G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||5/20|NM_001369948.1:c.-290+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||3/18|NM_001369949.1:c.-290+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-4920G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||5/19|NM_032204.5:c.541+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||6/20|XM_011530442.4:c.541+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||7/21|XM_011530443.3:c.541+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||7/21|XM_011530444.3:c.541+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||6/20|XM_011530445.3:c.541+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||5/19|XM_011530448.3:c.382+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||6/20|XM_011530453.3:c.199+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||5/19|XM_011530454.3:c.199+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||4/18|XM_011530455.3:c.199+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||4/18|XM_024452287.2:c.703+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||4/17|XM_024452288.2:c.703+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||4/17|XM_024452289.2:c.703+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||3/17|XM_024452290.2:c.544+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||3/17|XM_024452291.2:c.544+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||4/18|XM_047441538.1:c.703+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||5/19|XM_047441539.1:c.541+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||7/21|XM_047441540.1:c.541+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||5/18|XM_047441541.1:c.541+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||3/16|XM_047441542.1:c.544+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||6/19|XM_047441543.1:c.541+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||7/20|XM_047441544.1:c.541+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||5/18|XM_047441545.1:c.541+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||6/19|XM_047441546.1:c.541+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||5/19|XM_047441547.1:c.382+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||4/17|XM_047441548.1:c.199+1342G>T|||||||rs6006267||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29820993C>A|||||||||||||;SpliceAI=A|ASCC2|0.00|0.00|0.00|0.00|17|35|17|-22;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000478812,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69506;gnomADv4_1_AC_joint_XX=36105;gnomADv4_1_AC_joint_XY=33401;gnomADv4_1_AF_grpmax_joint=0.663867;gnomADv4_1_AF_joint=0.460189;gnomADv4_1_AF_joint_XX=0.466992;gnomADv4_1_AF_joint_XY=0.453055;gnomADv4_1_AN_grpmax_joint=5120;gnomADv4_1_AN_joint=151038;gnomADv4_1_AN_joint_XX=77314;gnomADv4_1_AN_joint_XY=73724;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16402;gnomADv4_1_nhomalt_joint_XX=8668;gnomADv4_1_nhomalt_joint_XY=7734;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29821838 chr22_29821838_A_T A T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.796;CADD_Rawscore=0.135452;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||5/19|ENST00000307790.8:c.541+497T>A|||||||rs2057882||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||6/20|ENST00000397771.6:c.541+497T>A|||||||rs2057882||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29821838A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs2057882|54|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||6/7|ENST00000431535.5:c.541+497T>A|||||||rs2057882||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-5765T>A|||||||rs2057882||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29821838A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs2057882|3270|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||A|A||||chr22:g.29821838A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs2057882|3856|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||6/20|ENST00000458594.5:c.*551+497T>A|||||||rs2057882||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29821838A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs2057882|3323|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29821838A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs2057882|3265|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29821838A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs2057882|514|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29821838A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs2057882|304|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29821838A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs2057882|3376|-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29821838A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs2057882|3249|-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||3/4|ENST00000495967.5:n.398+497T>A|||||||rs2057882||-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||4/18|ENST00000542393.5:c.313+497T>A|||||||rs2057882||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||4/18|NM_001242906.2:c.313+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||5/19|NM_001369920.1:c.541+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||7/21|NM_001369921.1:c.541+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||6/20|NM_001369922.1:c.541+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||6/20|NM_001369923.1:c.541+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||5/19|NM_001369924.1:c.541+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||4/18|NM_001369925.1:c.382+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||5/19|NM_001369926.1:c.382+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||4/18|NM_001369927.1:c.382+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||6/20|NM_001369928.1:c.382+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||4/18|NM_001369929.1:c.382+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||4/17|NM_001369930.1:c.382+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||8/22|NM_001369931.1:c.199+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||6/20|NM_001369932.1:c.199+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||5/19|NM_001369933.1:c.199+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||4/18|NM_001369934.1:c.199+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||6/20|NM_001369935.1:c.199+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||3/17|NM_001369936.1:c.199+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||4/18|NM_001369937.1:c.199+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||6/20|NM_001369938.1:c.199+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||4/18|NM_001369939.1:c.199+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||5/19|NM_001369940.1:c.199+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||4/18|NM_001369941.1:c.199+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||2/16|NM_001369942.1:c.7+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-168+3249T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-5765T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||4/19|NM_001369945.1:c.-290+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-168+3249T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-168+3249T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||5/20|NM_001369948.1:c.-290+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||3/18|NM_001369949.1:c.-290+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-5765T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||5/19|NM_032204.5:c.541+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||6/20|XM_011530442.4:c.541+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||7/21|XM_011530443.3:c.541+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||7/21|XM_011530444.3:c.541+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||6/20|XM_011530445.3:c.541+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||5/19|XM_011530448.3:c.382+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||6/20|XM_011530453.3:c.199+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||5/19|XM_011530454.3:c.199+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||4/18|XM_011530455.3:c.199+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||4/18|XM_024452287.2:c.703+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||4/17|XM_024452288.2:c.703+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||4/17|XM_024452289.2:c.703+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||3/17|XM_024452290.2:c.544+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||3/17|XM_024452291.2:c.544+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||4/18|XM_047441538.1:c.703+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||5/19|XM_047441539.1:c.541+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||7/21|XM_047441540.1:c.541+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||5/18|XM_047441541.1:c.541+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||3/16|XM_047441542.1:c.544+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||6/19|XM_047441543.1:c.541+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||7/20|XM_047441544.1:c.541+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||5/18|XM_047441545.1:c.541+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||6/19|XM_047441546.1:c.541+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||5/19|XM_047441547.1:c.382+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||4/17|XM_047441548.1:c.199+497T>A|||||||rs2057882||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29821838A>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|-38|-13|27|36;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=106758;gnomADv4_1_AC_joint_XX=52901;gnomADv4_1_AC_joint_XY=53857;gnomADv4_1_AF_grpmax_joint=0.552009;gnomADv4_1_AF_joint=0.309228;gnomADv4_1_AF_joint_XX=0.326658;gnomADv4_1_AF_joint_XY=0.293828;gnomADv4_1_AN_grpmax_joint=10652;gnomADv4_1_AN_joint=345240;gnomADv4_1_AN_joint_XX=161946;gnomADv4_1_AN_joint_XY=183294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17671;gnomADv4_1_nhomalt_joint_XX=9056;gnomADv4_1_nhomalt_joint_XY=8615;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29822003 chr22_29822003_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.312;CADD_Rawscore=-0.311696;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||5/19|ENST00000307790.8:c.541+332G>A|||||||rs5763521||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||6/20|ENST00000397771.6:c.541+332G>A|||||||rs5763521||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29822003C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined|5/5||ENST00000412689.5:n.631G>A||631|||||rs5763521||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||6/7|ENST00000431535.5:c.541+332G>A|||||||rs5763521||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-5930G>A|||||||rs5763521||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29822003C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs5763521|3105|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||C|C||||chr22:g.29822003C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs5763521|3691|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||6/20|ENST00000458594.5:c.*551+332G>A|||||||rs5763521||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29822003C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs5763521|3158|-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29822003C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs5763521|3100|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29822003C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs5763521|349|-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29822003C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs5763521|139|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29822003C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs5763521|3211|-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29822003C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs5763521|3084|-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||3/4|ENST00000495967.5:n.398+332G>A|||||||rs5763521||-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||4/18|ENST00000542393.5:c.313+332G>A|||||||rs5763521||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||4/18|NM_001242906.2:c.313+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||5/19|NM_001369920.1:c.541+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||7/21|NM_001369921.1:c.541+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||6/20|NM_001369922.1:c.541+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||6/20|NM_001369923.1:c.541+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||5/19|NM_001369924.1:c.541+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||4/18|NM_001369925.1:c.382+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||5/19|NM_001369926.1:c.382+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||4/18|NM_001369927.1:c.382+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||6/20|NM_001369928.1:c.382+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||4/18|NM_001369929.1:c.382+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||4/17|NM_001369930.1:c.382+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||8/22|NM_001369931.1:c.199+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||6/20|NM_001369932.1:c.199+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||5/19|NM_001369933.1:c.199+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||4/18|NM_001369934.1:c.199+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||6/20|NM_001369935.1:c.199+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||3/17|NM_001369936.1:c.199+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||4/18|NM_001369937.1:c.199+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||6/20|NM_001369938.1:c.199+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||4/18|NM_001369939.1:c.199+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||5/19|NM_001369940.1:c.199+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||4/18|NM_001369941.1:c.199+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||2/16|NM_001369942.1:c.7+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-168+3084G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-5930G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||4/19|NM_001369945.1:c.-290+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-168+3084G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-168+3084G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||5/20|NM_001369948.1:c.-290+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||3/18|NM_001369949.1:c.-290+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-5930G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||5/19|NM_032204.5:c.541+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||6/20|XM_011530442.4:c.541+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||7/21|XM_011530443.3:c.541+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||7/21|XM_011530444.3:c.541+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||6/20|XM_011530445.3:c.541+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||5/19|XM_011530448.3:c.382+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||6/20|XM_011530453.3:c.199+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||5/19|XM_011530454.3:c.199+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||4/18|XM_011530455.3:c.199+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||4/18|XM_024452287.2:c.703+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||4/17|XM_024452288.2:c.703+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||4/17|XM_024452289.2:c.703+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||3/17|XM_024452290.2:c.544+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||3/17|XM_024452291.2:c.544+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||4/18|XM_047441538.1:c.703+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||5/19|XM_047441539.1:c.541+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||7/21|XM_047441540.1:c.541+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||5/18|XM_047441541.1:c.541+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||3/16|XM_047441542.1:c.544+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||6/19|XM_047441543.1:c.541+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||7/20|XM_047441544.1:c.541+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||5/18|XM_047441545.1:c.541+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||6/19|XM_047441546.1:c.541+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||5/19|XM_047441547.1:c.382+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||4/17|XM_047441548.1:c.199+332G>A|||||||rs5763521||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29822003C>T|||||||||||||;REVEL_score=0.025;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|-32|46|7|-31;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=164944;gnomADv4_1_AC_joint_XX=79980;gnomADv4_1_AC_joint_XY=84964;gnomADv4_1_AF_grpmax_joint=0.644775;gnomADv4_1_AF_joint=0.429631;gnomADv4_1_AF_joint_XX=0.454871;gnomADv4_1_AF_joint_XY=0.408304;gnomADv4_1_AN_grpmax_joint=43806;gnomADv4_1_AN_joint=383920;gnomADv4_1_AN_joint_XX=175830;gnomADv4_1_AN_joint_XY=208090;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31997;gnomADv4_1_nhomalt_joint_XX=16374;gnomADv4_1_nhomalt_joint_XY=15623;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29822716 chr22_29822716_C_CT C CT 20 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=20;CADDIndel_PHREDscore=0.692;CADDIndel_Rawscore=-0.111719;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||4/19|ENST00000307790.8:c.412-253dup|||||||rs748997801||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||5/20|ENST00000397771.6:c.412-253dup|||||||rs748997801||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||3/4|ENST00000412689.5:n.429-253dup|||||||rs748997801||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||5/7|ENST00000431535.5:c.412-253dup|||||||rs748997801||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-6644dup|||||||rs748997801||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29822738dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs748997801|2391|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl|||||||chr22:g.29822738dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs748997801|2977|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||5/20|ENST00000458594.5:c.*422-253dup|||||||rs748997801||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29822738dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs748997801|2444|-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29822738dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs748997801|2386|-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||1/1|ENST00000463203.1:n.273-253dup|||||||rs748997801||-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||5/5|ENST00000465667.6:n.554-253dup|||||||rs748997801||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29822738dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs748997801|2497|-1||HGNC|HGNC:24103|4||||||||Ensembl|||||||chr22:g.29822738dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs748997801|2370|-1||HGNC|HGNC:24103|5||||||||Ensembl|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||2/4|ENST00000495967.5:n.269-253dup|||||||rs748997801||-1||HGNC|HGNC:24103|4||||||||Ensembl|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||3/18|ENST00000542393.5:c.253-322dup|||||||rs748997801||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||3/18|NM_001242906.2:c.253-322dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||4/19|NM_001369920.1:c.412-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||6/21|NM_001369921.1:c.412-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||5/20|NM_001369922.1:c.412-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||5/20|NM_001369923.1:c.412-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||4/19|NM_001369924.1:c.412-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||3/18|NM_001369925.1:c.253-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||4/19|NM_001369926.1:c.253-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||3/18|NM_001369927.1:c.253-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||5/20|NM_001369928.1:c.253-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||3/18|NM_001369929.1:c.253-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||3/17|NM_001369930.1:c.253-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||7/22|NM_001369931.1:c.70-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||5/20|NM_001369932.1:c.70-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||4/19|NM_001369933.1:c.70-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||3/18|NM_001369934.1:c.70-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||5/20|NM_001369935.1:c.70-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||2/17|NM_001369936.1:c.70-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||3/18|NM_001369937.1:c.70-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||5/20|NM_001369938.1:c.70-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||3/18|NM_001369939.1:c.70-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||4/19|NM_001369940.1:c.70-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||3/18|NM_001369941.1:c.70-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-123-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-168+2370dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-6644dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||3/19|NM_001369945.1:c.-419-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-168+2370dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-168+2370dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||4/20|NM_001369948.1:c.-419-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||2/18|NM_001369949.1:c.-419-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-6644dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||4/19|NM_032204.5:c.412-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||5/20|XM_011530442.4:c.412-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||6/21|XM_011530443.3:c.412-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||6/21|XM_011530444.3:c.412-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||5/20|XM_011530445.3:c.412-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||4/19|XM_011530448.3:c.253-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||5/20|XM_011530453.3:c.70-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||4/19|XM_011530454.3:c.70-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||3/18|XM_011530455.3:c.70-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||3/18|XM_024452287.2:c.574-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||3/17|XM_024452288.2:c.574-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||3/17|XM_024452289.2:c.574-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||2/17|XM_024452290.2:c.415-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||2/17|XM_024452291.2:c.415-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||3/18|XM_047441538.1:c.574-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||4/19|XM_047441539.1:c.412-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||6/21|XM_047441540.1:c.412-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||4/18|XM_047441541.1:c.412-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||2/16|XM_047441542.1:c.415-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||5/19|XM_047441543.1:c.412-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||6/20|XM_047441544.1:c.412-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||4/18|XM_047441545.1:c.412-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||5/19|XM_047441546.1:c.412-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||4/19|XM_047441547.1:c.253-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||3/17|XM_047441548.1:c.70-253dup|||||||rs748997801||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq|||||||chr22:g.29822738dup|||||||||||||;SpliceAI=CT|ASCC2|0.00|0.00|0.00|0.00|28|12|28|-20;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10709;gnomADv4_1_AC_joint_XX=6006;gnomADv4_1_AC_joint_XY=4703;gnomADv4_1_AF_grpmax_joint=0.137014;gnomADv4_1_AF_joint=0.115101;gnomADv4_1_AF_joint_XX=0.11999;gnomADv4_1_AF_joint_XY=0.109408;gnomADv4_1_AN_grpmax_joint=46966;gnomADv4_1_AN_joint=93040;gnomADv4_1_AN_joint_XX=50054;gnomADv4_1_AN_joint_XY=42986;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1161;gnomADv4_1_nhomalt_joint_XX=662;gnomADv4_1_nhomalt_joint_XY=499;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29823337 chr22_29823337_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.81;CADD_Rawscore=0.25589;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||4/19|ENST00000307790.8:c.412-873G>A|||||||rs28749829||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||5/20|ENST00000397771.6:c.412-873G>A|||||||rs28749829||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||3/4|ENST00000412689.5:n.429-873G>A|||||||rs28749829||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||5/7|ENST00000431535.5:c.412-873G>A|||||||rs28749829||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-7264G>A|||||||rs28749829||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29823337C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs28749829|1771|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||C|C||||chr22:g.29823337C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs28749829|2357|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||5/20|ENST00000458594.5:c.*422-873G>A|||||||rs28749829||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29823337C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs28749829|1824|-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29823337C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs28749829|1766|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||1/1|ENST00000463203.1:n.273-873G>A|||||||rs28749829||-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||5/5|ENST00000465667.6:n.554-873G>A|||||||rs28749829||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29823337C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs28749829|1877|-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29823337C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs28749829|1750|-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||2/4|ENST00000495967.5:n.269-873G>A|||||||rs28749829||-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||3/18|ENST00000542393.5:c.253-942G>A|||||||rs28749829||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||3/18|NM_001242906.2:c.253-942G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||4/19|NM_001369920.1:c.412-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||6/21|NM_001369921.1:c.412-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||5/20|NM_001369922.1:c.412-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||5/20|NM_001369923.1:c.412-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||4/19|NM_001369924.1:c.412-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||3/18|NM_001369925.1:c.253-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||4/19|NM_001369926.1:c.253-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||3/18|NM_001369927.1:c.253-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||5/20|NM_001369928.1:c.253-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||3/18|NM_001369929.1:c.253-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||3/17|NM_001369930.1:c.253-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||7/22|NM_001369931.1:c.70-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||5/20|NM_001369932.1:c.70-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||4/19|NM_001369933.1:c.70-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||3/18|NM_001369934.1:c.70-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||5/20|NM_001369935.1:c.70-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||2/17|NM_001369936.1:c.70-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||3/18|NM_001369937.1:c.70-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||5/20|NM_001369938.1:c.70-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||3/18|NM_001369939.1:c.70-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||4/19|NM_001369940.1:c.70-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||3/18|NM_001369941.1:c.70-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-123-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-168+1750G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-7264G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||3/19|NM_001369945.1:c.-419-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-168+1750G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-168+1750G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||4/20|NM_001369948.1:c.-419-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||2/18|NM_001369949.1:c.-419-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-7264G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||4/19|NM_032204.5:c.412-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||5/20|XM_011530442.4:c.412-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||6/21|XM_011530443.3:c.412-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||6/21|XM_011530444.3:c.412-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||5/20|XM_011530445.3:c.412-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||4/19|XM_011530448.3:c.253-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||5/20|XM_011530453.3:c.70-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||4/19|XM_011530454.3:c.70-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||3/18|XM_011530455.3:c.70-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||3/18|XM_024452287.2:c.574-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||3/17|XM_024452288.2:c.574-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||3/17|XM_024452289.2:c.574-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||2/17|XM_024452290.2:c.415-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||2/17|XM_024452291.2:c.415-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||3/18|XM_047441538.1:c.574-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||4/19|XM_047441539.1:c.412-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||6/21|XM_047441540.1:c.412-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||4/18|XM_047441541.1:c.412-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||2/16|XM_047441542.1:c.415-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||5/19|XM_047441543.1:c.412-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||6/20|XM_047441544.1:c.412-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||4/18|XM_047441545.1:c.412-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||5/19|XM_047441546.1:c.412-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||4/19|XM_047441547.1:c.253-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||3/17|XM_047441548.1:c.70-873G>A|||||||rs28749829||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29823337C>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|9|35|-4|43;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46190;gnomADv4_1_AC_joint_XX=24049;gnomADv4_1_AC_joint_XY=22141;gnomADv4_1_AF_grpmax_joint=0.586394;gnomADv4_1_AF_joint=0.303562;gnomADv4_1_AF_joint_XX=0.309216;gnomADv4_1_AF_joint_XY=0.29765;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152160;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8275;gnomADv4_1_nhomalt_joint_XX=4430;gnomADv4_1_nhomalt_joint_XY=3845;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29823426 chr22_29823426_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=11.54;CADD_Rawscore=1.11899;CSQ=A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||4/19|ENST00000307790.8:c.412-962C>T|||||||rs73161074||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||5/20|ENST00000397771.6:c.412-962C>T|||||||rs73161074||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||3/4|ENST00000412689.5:n.429-962C>T|||||||rs73161074||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||5/7|ENST00000431535.5:c.412-962C>T|||||||rs73161074||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.330-7353C>T|||||||rs73161074||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29823426G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs73161074|1682|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||G|G||||chr22:g.29823426G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs73161074|2268|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||5/20|ENST00000458594.5:c.*422-962C>T|||||||rs73161074||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29823426G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs73161074|1735|-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29823426G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs73161074|1677|-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||1/1|ENST00000463203.1:n.273-962C>T|||||||rs73161074||-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||5/5|ENST00000465667.6:n.554-962C>T|||||||rs73161074||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29823426G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs73161074|1788|-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29823426G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs73161074|1661|-1||HGNC|HGNC:24103|5||||||||Ensembl||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||2/4|ENST00000495967.5:n.269-962C>T|||||||rs73161074||-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||3/18|ENST00000542393.5:c.253-1031C>T|||||||rs73161074||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||3/18|NM_001242906.2:c.253-1031C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||4/19|NM_001369920.1:c.412-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||6/21|NM_001369921.1:c.412-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||5/20|NM_001369922.1:c.412-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||5/20|NM_001369923.1:c.412-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||4/19|NM_001369924.1:c.412-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||3/18|NM_001369925.1:c.253-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||4/19|NM_001369926.1:c.253-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||3/18|NM_001369927.1:c.253-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||5/20|NM_001369928.1:c.253-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||3/18|NM_001369929.1:c.253-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||3/17|NM_001369930.1:c.253-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||7/22|NM_001369931.1:c.70-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||5/20|NM_001369932.1:c.70-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||4/19|NM_001369933.1:c.70-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||3/18|NM_001369934.1:c.70-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||5/20|NM_001369935.1:c.70-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||2/17|NM_001369936.1:c.70-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||3/18|NM_001369937.1:c.70-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||5/20|NM_001369938.1:c.70-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||3/18|NM_001369939.1:c.70-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||4/19|NM_001369940.1:c.70-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||3/18|NM_001369941.1:c.70-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-123-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-168+1661C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-7353C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||3/19|NM_001369945.1:c.-419-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-168+1661C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-168+1661C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||4/20|NM_001369948.1:c.-419-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||2/18|NM_001369949.1:c.-419-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-289-7353C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||4/19|NM_032204.5:c.412-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||5/20|XM_011530442.4:c.412-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||6/21|XM_011530443.3:c.412-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||6/21|XM_011530444.3:c.412-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||5/20|XM_011530445.3:c.412-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||4/19|XM_011530448.3:c.253-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||5/20|XM_011530453.3:c.70-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||4/19|XM_011530454.3:c.70-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||3/18|XM_011530455.3:c.70-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||3/18|XM_024452287.2:c.574-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||3/17|XM_024452288.2:c.574-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||3/17|XM_024452289.2:c.574-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||2/17|XM_024452290.2:c.415-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||2/17|XM_024452291.2:c.415-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||3/18|XM_047441538.1:c.574-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||4/19|XM_047441539.1:c.412-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||6/21|XM_047441540.1:c.412-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||4/18|XM_047441541.1:c.412-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||2/16|XM_047441542.1:c.415-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||5/19|XM_047441543.1:c.412-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||6/20|XM_047441544.1:c.412-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||4/18|XM_047441545.1:c.412-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||5/19|XM_047441546.1:c.412-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||4/19|XM_047441547.1:c.253-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||3/17|XM_047441548.1:c.70-962C>T|||||||rs73161074||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||G|G||||chr22:g.29823426G>A|||||||||||||;SpliceAI=A|ASCC2|0.00|0.00|0.00|0.00|-5|-28|25|5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19698;gnomADv4_1_AC_joint_XX=9934;gnomADv4_1_AC_joint_XY=9764;gnomADv4_1_AF_grpmax_joint=0.241201;gnomADv4_1_AF_joint=0.12939;gnomADv4_1_AF_joint_XX=0.127677;gnomADv4_1_AF_joint_XY=0.13118;gnomADv4_1_AN_grpmax_joint=4830;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1489;gnomADv4_1_nhomalt_joint_XX=762;gnomADv4_1_nhomalt_joint_XY=727;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29824201 chr22_29824201_G_A G A 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.4;CADD_Rawscore=-0.249348;CSQ=A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||4/19|ENST00000307790.8:c.411+886C>T|||||||rs5997534||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||5/20|ENST00000397771.6:c.411+886C>T|||||||rs5997534||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||3/4|ENST00000412689.5:n.428+886C>T|||||||rs5997534||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||5/7|ENST00000431535.5:c.411+886C>T|||||||rs5997534||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.329+8044C>T|||||||rs5997534||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29824201G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs5997534|907|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||G|G||||chr22:g.29824201G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs5997534|1493|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||5/20|ENST00000458594.5:c.*421+886C>T|||||||rs5997534||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29824201G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs5997534|960|-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29824201G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs5997534|902|-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||1/1|ENST00000463203.1:n.272+886C>T|||||||rs5997534||-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||5/5|ENST00000465667.6:n.553+886C>T|||||||rs5997534||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29824201G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs5997534|1013|-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29824201G>A|||1||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs5997534|886|-1||HGNC|HGNC:24103|5||||||||Ensembl||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||2/4|ENST00000495967.5:n.268+886C>T|||||||rs5997534||-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||3/18|ENST00000542393.5:c.252+886C>T|||||||rs5997534||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||3/18|NM_001242906.2:c.252+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||4/19|NM_001369920.1:c.411+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||6/21|NM_001369921.1:c.411+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||5/20|NM_001369922.1:c.411+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||5/20|NM_001369923.1:c.411+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||4/19|NM_001369924.1:c.411+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||3/18|NM_001369925.1:c.252+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||4/19|NM_001369926.1:c.252+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||3/18|NM_001369927.1:c.252+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||5/20|NM_001369928.1:c.252+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||3/18|NM_001369929.1:c.252+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||3/17|NM_001369930.1:c.252+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||7/22|NM_001369931.1:c.69+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||5/20|NM_001369932.1:c.69+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||4/19|NM_001369933.1:c.69+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||3/18|NM_001369934.1:c.69+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||5/20|NM_001369935.1:c.69+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||2/17|NM_001369936.1:c.69+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||3/18|NM_001369937.1:c.69+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||5/20|NM_001369938.1:c.69+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||3/18|NM_001369939.1:c.69+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||4/19|NM_001369940.1:c.69+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||3/18|NM_001369941.1:c.69+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-123-1737C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-168+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-8128C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||3/19|NM_001369945.1:c.-420+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-168+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-168+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||4/20|NM_001369948.1:c.-420+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||2/18|NM_001369949.1:c.-420+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-290+8044C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||4/19|NM_032204.5:c.411+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||5/20|XM_011530442.4:c.411+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||6/21|XM_011530443.3:c.411+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||6/21|XM_011530444.3:c.411+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||5/20|XM_011530445.3:c.411+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||4/19|XM_011530448.3:c.252+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||5/20|XM_011530453.3:c.69+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||4/19|XM_011530454.3:c.69+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||3/18|XM_011530455.3:c.69+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||3/18|XM_024452287.2:c.573+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||3/17|XM_024452288.2:c.573+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||3/17|XM_024452289.2:c.573+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||2/17|XM_024452290.2:c.414+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||2/17|XM_024452291.2:c.414+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||3/18|XM_047441538.1:c.573+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||4/19|XM_047441539.1:c.411+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||6/21|XM_047441540.1:c.411+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||4/18|XM_047441541.1:c.411+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||2/16|XM_047441542.1:c.414+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||5/19|XM_047441543.1:c.411+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||6/20|XM_047441544.1:c.411+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||4/18|XM_047441545.1:c.411+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||5/19|XM_047441546.1:c.411+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||4/19|XM_047441547.1:c.252+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||3/17|XM_047441548.1:c.69+886C>T|||||||rs5997534||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||G|G||||chr22:g.29824201G>A|||1||||||||||;SpliceAI=A|ASCC2|0.01|0.00|0.00|0.00|-22|-41|-24|-22;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69510;gnomADv4_1_AC_joint_XX=36140;gnomADv4_1_AC_joint_XY=33370;gnomADv4_1_AF_grpmax_joint=0.665953;gnomADv4_1_AF_joint=0.460398;gnomADv4_1_AF_joint_XX=0.467553;gnomADv4_1_AF_joint_XY=0.452892;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=150978;gnomADv4_1_AN_joint_XX=77296;gnomADv4_1_AN_joint_XY=73682;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16438;gnomADv4_1_nhomalt_joint_XX=8695;gnomADv4_1_nhomalt_joint_XY=7743;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29824251 chr22_29824251_TACACAC_T;chr22_29824251_TAC_T TAC T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=1.328;CADDIndel_Rawscore=0.056174;CSQ=-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||4/19|ENST00000307790.8:c.411+834_411+835del|||||||rs60849755||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||5/20|ENST00000397771.6:c.411+834_411+835del|||||||rs60849755||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||3/4|ENST00000412689.5:n.428+834_428+835del|||||||rs60849755||-1||HGNC|HGNC:24103|3||||||||Ensembl||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||5/7|ENST00000431535.5:c.411+834_411+835del|||||||rs60849755||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.329+7992_329+7993del|||||||rs60849755||-1||HGNC|HGNC:24103|3||||||||Ensembl||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs60849755|855|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs60849755|1441|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||5/20|ENST00000458594.5:c.*421+834_*421+835del|||||||rs60849755||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs60849755|908|-1||HGNC|HGNC:24103|2||||||||Ensembl||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs60849755|850|-1||HGNC|HGNC:24103|3||||||||Ensembl||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||1/1|ENST00000463203.1:n.272+834_272+835del|||||||rs60849755||-1||HGNC|HGNC:24103|2||||||||Ensembl||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||5/5|ENST00000465667.6:n.553+834_553+835del|||||||rs60849755||-1||HGNC|HGNC:24103|3||||||||Ensembl||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs60849755|961|-1||HGNC|HGNC:24103|4||||||||Ensembl||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs60849755|834|-1||HGNC|HGNC:24103|5||||||||Ensembl||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||2/4|ENST00000495967.5:n.268+834_268+835del|||||||rs60849755||-1||HGNC|HGNC:24103|4||||||||Ensembl||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||3/18|ENST00000542393.5:c.252+834_252+835del|||||||rs60849755||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||3/18|NM_001242906.2:c.252+834_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||4/19|NM_001369920.1:c.411+834_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||6/21|NM_001369921.1:c.411+834_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||5/20|NM_001369922.1:c.411+834_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||5/20|NM_001369923.1:c.411+834_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||4/19|NM_001369924.1:c.411+834_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||3/18|NM_001369925.1:c.252+834_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||4/19|NM_001369926.1:c.252+834_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||3/18|NM_001369927.1:c.252+834_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||5/20|NM_001369928.1:c.252+834_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||3/18|NM_001369929.1:c.252+834_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||3/17|NM_001369930.1:c.252+834_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||7/22|NM_001369931.1:c.69+834_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||5/20|NM_001369932.1:c.69+834_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||4/19|NM_001369933.1:c.69+834_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||3/18|NM_001369934.1:c.69+834_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||5/20|NM_001369935.1:c.69+834_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||2/17|NM_001369936.1:c.69+834_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||3/18|NM_001369937.1:c.69+834_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||5/20|NM_001369938.1:c.69+834_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||3/18|NM_001369939.1:c.69+834_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||4/19|NM_001369940.1:c.69+834_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||3/18|NM_001369941.1:c.69+834_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-123-1789_-123-1788del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-168+834_-168+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-8180_-167-8179del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||3/19|NM_001369945.1:c.-420+834_-420+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-168+834_-168+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-168+834_-168+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||4/20|NM_001369948.1:c.-420+834_-420+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||2/18|NM_001369949.1:c.-420+834_-420+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-290+7992_-290+7993del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||4/19|NM_032204.5:c.411+834_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||5/20|XM_011530442.4:c.411+834_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||6/21|XM_011530443.3:c.411+834_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||6/21|XM_011530444.3:c.411+834_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||5/20|XM_011530445.3:c.411+834_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||4/19|XM_011530448.3:c.252+834_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||5/20|XM_011530453.3:c.69+834_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||4/19|XM_011530454.3:c.69+834_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||3/18|XM_011530455.3:c.69+834_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||3/18|XM_024452287.2:c.573+834_573+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||3/17|XM_024452288.2:c.573+834_573+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||3/17|XM_024452289.2:c.573+834_573+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||2/17|XM_024452290.2:c.414+834_414+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||2/17|XM_024452291.2:c.414+834_414+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||3/18|XM_047441538.1:c.573+834_573+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||4/19|XM_047441539.1:c.411+834_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||6/21|XM_047441540.1:c.411+834_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||4/18|XM_047441541.1:c.411+834_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||2/16|XM_047441542.1:c.414+834_414+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||5/19|XM_047441543.1:c.411+834_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||6/20|XM_047441544.1:c.411+834_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||4/18|XM_047441545.1:c.411+834_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||5/19|XM_047441546.1:c.411+834_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||4/19|XM_047441547.1:c.252+834_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||3/17|XM_047441548.1:c.69+834_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||AC|AC||||chr22:g.29824290_29824291del|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|-45|-13|25|7;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15786;gnomADv4_1_AC_joint_XX=7554;gnomADv4_1_AC_joint_XY=8232;gnomADv4_1_AF_grpmax_joint=0.250222;gnomADv4_1_AF_joint=0.107843;gnomADv4_1_AF_joint_XX=0.100178;gnomADv4_1_AF_joint_XY=0.115986;gnomADv4_1_AN_grpmax_joint=4500;gnomADv4_1_AN_joint=146380;gnomADv4_1_AN_joint_XX=75406;gnomADv4_1_AN_joint_XY=70974;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1014;gnomADv4_1_nhomalt_joint_XX=450;gnomADv4_1_nhomalt_joint_XY=564;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29824251 chr22_29824251_TACACAC_T;chr22_29824251_TAC_T TACACAC T 43 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=6.337;CADDIndel_Rawscore=0.587658;CSQ=-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||4/19|ENST00000307790.8:c.411+830_411+835del|||||||rs60849755||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||5/20|ENST00000397771.6:c.411+830_411+835del|||||||rs60849755||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||3/4|ENST00000412689.5:n.428+830_428+835del|||||||rs60849755||-1||HGNC|HGNC:24103|3||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||5/7|ENST00000431535.5:c.411+830_411+835del|||||||rs60849755||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.329+7988_329+7993del|||||||rs60849755||-1||HGNC|HGNC:24103|3||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs60849755|851|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs60849755|1437|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||5/20|ENST00000458594.5:c.*421+830_*421+835del|||||||rs60849755||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs60849755|904|-1||HGNC|HGNC:24103|2||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs60849755|846|-1||HGNC|HGNC:24103|3||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||1/1|ENST00000463203.1:n.272+830_272+835del|||||||rs60849755||-1||HGNC|HGNC:24103|2||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||5/5|ENST00000465667.6:n.553+830_553+835del|||||||rs60849755||-1||HGNC|HGNC:24103|3||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs60849755|957|-1||HGNC|HGNC:24103|4||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs60849755|830|-1||HGNC|HGNC:24103|5||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||2/4|ENST00000495967.5:n.268+830_268+835del|||||||rs60849755||-1||HGNC|HGNC:24103|4||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||3/18|ENST00000542393.5:c.252+830_252+835del|||||||rs60849755||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||3/18|NM_001242906.2:c.252+830_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||4/19|NM_001369920.1:c.411+830_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||6/21|NM_001369921.1:c.411+830_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||5/20|NM_001369922.1:c.411+830_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||5/20|NM_001369923.1:c.411+830_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||4/19|NM_001369924.1:c.411+830_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||3/18|NM_001369925.1:c.252+830_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||4/19|NM_001369926.1:c.252+830_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||3/18|NM_001369927.1:c.252+830_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||5/20|NM_001369928.1:c.252+830_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||3/18|NM_001369929.1:c.252+830_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||3/17|NM_001369930.1:c.252+830_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||7/22|NM_001369931.1:c.69+830_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||5/20|NM_001369932.1:c.69+830_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||4/19|NM_001369933.1:c.69+830_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||3/18|NM_001369934.1:c.69+830_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||5/20|NM_001369935.1:c.69+830_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||2/17|NM_001369936.1:c.69+830_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||3/18|NM_001369937.1:c.69+830_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||5/20|NM_001369938.1:c.69+830_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||3/18|NM_001369939.1:c.69+830_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||4/19|NM_001369940.1:c.69+830_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||3/18|NM_001369941.1:c.69+830_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-123-1793_-123-1788del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||3/17|NM_001369943.1:c.-168+830_-168+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-167-8184_-167-8179del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||3/19|NM_001369945.1:c.-420+830_-420+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||6/20|NM_001369946.1:c.-168+830_-168+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||2/16|NM_001369947.1:c.-168+830_-168+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||4/20|NM_001369948.1:c.-420+830_-420+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||2/18|NM_001369949.1:c.-420+830_-420+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-290+7988_-290+7993del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||4/19|NM_032204.5:c.411+830_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||5/20|XM_011530442.4:c.411+830_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||6/21|XM_011530443.3:c.411+830_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||6/21|XM_011530444.3:c.411+830_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||5/20|XM_011530445.3:c.411+830_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||4/19|XM_011530448.3:c.252+830_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||5/20|XM_011530453.3:c.69+830_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||4/19|XM_011530454.3:c.69+830_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||3/18|XM_011530455.3:c.69+830_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||3/18|XM_024452287.2:c.573+830_573+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||3/17|XM_024452288.2:c.573+830_573+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||3/17|XM_024452289.2:c.573+830_573+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||2/17|XM_024452290.2:c.414+830_414+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||2/17|XM_024452291.2:c.414+830_414+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||3/18|XM_047441538.1:c.573+830_573+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||4/19|XM_047441539.1:c.411+830_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||6/21|XM_047441540.1:c.411+830_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||4/18|XM_047441541.1:c.411+830_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||2/16|XM_047441542.1:c.414+830_414+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||5/19|XM_047441543.1:c.411+830_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||6/20|XM_047441544.1:c.411+830_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||4/18|XM_047441545.1:c.411+830_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||5/19|XM_047441546.1:c.411+830_411+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||4/19|XM_047441547.1:c.252+830_252+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||3/17|XM_047441548.1:c.69+830_69+835del|||||||rs60849755||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29824286_29824291del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46725;gnomADv4_1_AC_joint_XX=24689;gnomADv4_1_AC_joint_XY=22036;gnomADv4_1_AF_grpmax_joint=0.419618;gnomADv4_1_AF_joint=0.319256;gnomADv4_1_AF_joint_XX=0.327492;gnomADv4_1_AF_joint_XY=0.310506;gnomADv4_1_AN_grpmax_joint=5026;gnomADv4_1_AN_joint=146356;gnomADv4_1_AN_joint_XX=75388;gnomADv4_1_AN_joint_XY=70968;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8058;gnomADv4_1_nhomalt_joint_XX=4396;gnomADv4_1_nhomalt_joint_XY=3662;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29825837 chr22_29825837_T_A T A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=16.39;CADD_Rawscore=1.92312;CSQ=A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||2/19|ENST00000307790.8:c.82-57A>T|||||||rs9306465||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||3/20|ENST00000397771.6:c.82-57A>T|||||||rs9306465||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||1/4|ENST00000412689.5:n.99-57A>T|||||||rs9306465||-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||3/7|ENST00000431535.5:c.82-57A>T|||||||rs9306465||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.329+6408A>T|||||||rs9306465||-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||3/4|ENST00000453160.5:c.*58-57A>T|||||||rs9306465||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||4/4|ENST00000454854.5:c.*92-57A>T|||||||rs9306465||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||3/20|ENST00000458594.5:c.*92-57A>T|||||||rs9306465||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||3/4|ENST00000460313.1:n.313-57A>T|||||||rs9306465||-1||HGNC|HGNC:24103|2||||||||Ensembl||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||1/1|ENST00000462454.1:n.337-580A>T|||||||rs9306465||-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29825837T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs9306465|479|-1||HGNC|HGNC:24103|2||||||||Ensembl||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||3/5|ENST00000465667.6:n.224-57A>T|||||||rs9306465||-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29825837T>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron|1/2||ENST00000477074.1:n.295A>T||295|||||rs9306465||-1||HGNC|HGNC:24103|4||||||||Ensembl||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||2/3|ENST00000495681.5:n.207-57A>T|||||||rs9306465||-1||HGNC|HGNC:24103|5||||||||Ensembl||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.98-580A>T|||||||rs9306465||-1||HGNC|HGNC:24103|4||||||||Ensembl||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||2/18|ENST00000542393.5:c.82-580A>T|||||||rs9306465||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||2/18|NM_001242906.2:c.82-580A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||2/19|NM_001369920.1:c.82-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||4/21|NM_001369921.1:c.82-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||3/20|NM_001369922.1:c.82-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||3/20|NM_001369923.1:c.82-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||2/19|NM_001369924.1:c.82-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||2/18|NM_001369925.1:c.82-580A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||3/19|NM_001369926.1:c.82-580A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||2/18|NM_001369927.1:c.82-580A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||4/20|NM_001369928.1:c.82-580A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||2/18|NM_001369929.1:c.82-580A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||2/17|NM_001369930.1:c.82-580A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||5/22|NM_001369931.1:c.-261-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||3/20|NM_001369932.1:c.-261-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||2/19|NM_001369933.1:c.-261-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-261-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||3/20|NM_001369935.1:c.-261-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-102-580A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||2/18|NM_001369937.1:c.-102-580A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||3/20|NM_001369938.1:c.-188-130A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-188-130A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||2/19|NM_001369940.1:c.-261-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-261-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-123-3373A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-497-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-168+8652A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-749-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||4/20|NM_001369946.1:c.-497-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-338-580A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||2/20|NM_001369948.1:c.-749-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-590-580A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-290+6408A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||2/19|NM_032204.5:c.82-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||3/20|XM_011530442.4:c.82-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||4/21|XM_011530443.3:c.82-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||4/21|XM_011530444.3:c.82-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||3/20|XM_011530445.3:c.82-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||3/19|XM_011530448.3:c.82-580A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||3/20|XM_011530453.3:c.-261-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||2/19|XM_011530454.3:c.-261-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-261-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||1/18|XM_024452287.2:c.244-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||1/17|XM_024452288.2:c.244-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||1/17|XM_024452289.2:c.244-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||1/17|XM_024452290.2:c.244-580A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||1/17|XM_024452291.2:c.244-580A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||1/18|XM_047441538.1:c.244-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||2/19|XM_047441539.1:c.82-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||4/21|XM_047441540.1:c.82-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||2/18|XM_047441541.1:c.82-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||1/16|XM_047441542.1:c.244-580A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||3/19|XM_047441543.1:c.82-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||4/20|XM_047441544.1:c.82-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||2/18|XM_047441545.1:c.82-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||3/19|XM_047441546.1:c.82-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||3/19|XM_047441547.1:c.82-580A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-261-57A>T|||||||rs9306465||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||T|T||||chr22:g.29825837T>A|||||||||||||;SpliceAI=A|ASCC2|0.00|0.00|0.00|0.00|-48|-30|40|8;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=571978;gnomADv4_1_AC_joint_XX=294832;gnomADv4_1_AC_joint_XY=277146;gnomADv4_1_AF_grpmax_joint=0.644017;gnomADv4_1_AF_joint=0.369363;gnomADv4_1_AF_joint_XX=0.37449;gnomADv4_1_AF_joint_XY=0.364061;gnomADv4_1_AN_grpmax_joint=44224;gnomADv4_1_AN_joint=1548552;gnomADv4_1_AN_joint_XX=787290;gnomADv4_1_AN_joint_XY=761262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=112875;gnomADv4_1_nhomalt_joint_XX=58587;gnomADv4_1_nhomalt_joint_XY=54288;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29827757 chr22_29827757_G_GACACAC G GACACAC 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=18;CADDIndel_PHREDscore=0.294;CADDIndel_Rawscore=-0.327197;CSQ=ACACAC|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||2/19|ENST00000307790.8:c.82-1983_82-1978dup|||||||rs35763537||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||3/20|ENST00000397771.6:c.82-1983_82-1978dup|||||||rs35763537||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||1/4|ENST00000412689.5:n.99-1983_99-1978dup|||||||rs35763537||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||3/7|ENST00000431535.5:c.82-1983_82-1978dup|||||||rs35763537||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.329+4482_329+4487dup|||||||rs35763537||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||3/4|ENST00000453160.5:c.*58-1983_*58-1978dup|||||||rs35763537||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||3/4|ENST00000454854.5:c.82-163_82-158dup|||||||rs35763537||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||2/20|ENST00000458594.5:c.82-163_82-158dup|||||||rs35763537||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||3/4|ENST00000460313.1:n.313-1983_313-1978dup|||||||rs35763537||-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||1/1|ENST00000462454.1:n.337-2506_337-2501dup|||||||rs35763537||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs35763537|2399|-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||3/5|ENST00000465667.6:n.224-1983_224-1978dup|||||||rs35763537||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs35763537|1626|-1||HGNC|HGNC:24103|4||||||||Ensembl|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||2/3|ENST00000495681.5:n.207-1983_207-1978dup|||||||rs35763537||-1||HGNC|HGNC:24103|5||||||||Ensembl|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.98-2506_98-2501dup|||||||rs35763537||-1||HGNC|HGNC:24103|4||||||||Ensembl|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||2/18|ENST00000542393.5:c.82-2506_82-2501dup|||||||rs35763537||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||2/18|NM_001242906.2:c.82-2506_82-2501dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||2/19|NM_001369920.1:c.82-1983_82-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||4/21|NM_001369921.1:c.82-1983_82-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||3/20|NM_001369922.1:c.82-1983_82-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||3/20|NM_001369923.1:c.82-1983_82-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||2/19|NM_001369924.1:c.82-1983_82-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||2/18|NM_001369925.1:c.82-2506_82-2501dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||3/19|NM_001369926.1:c.82-2506_82-2501dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||2/18|NM_001369927.1:c.82-2506_82-2501dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||4/20|NM_001369928.1:c.82-2506_82-2501dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||2/18|NM_001369929.1:c.82-2506_82-2501dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||2/17|NM_001369930.1:c.82-2506_82-2501dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||4/22|NM_001369931.1:c.-385-163_-385-158dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||2/20|NM_001369932.1:c.-385-163_-385-158dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||2/19|NM_001369933.1:c.-261-1983_-261-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-261-1983_-261-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||2/20|NM_001369935.1:c.-385-163_-385-158dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-102-2506_-102-2501dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||2/18|NM_001369937.1:c.-102-2506_-102-2501dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||3/20|NM_001369938.1:c.-188-2056_-188-2051dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-188-2056_-188-2051dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-385-163_-385-158dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-261-1983_-261-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-123-5299_-123-5294dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-497-1983_-497-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-168+6726_-168+6731dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-749-1983_-749-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||3/20|NM_001369946.1:c.-621-163_-621-158dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-338-2506_-338-2501dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||2/20|NM_001369948.1:c.-749-1983_-749-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-590-2506_-590-2501dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-290+4482_-290+4487dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||2/19|NM_032204.5:c.82-1983_82-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||3/20|XM_011530442.4:c.82-1983_82-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||4/21|XM_011530443.3:c.82-1983_82-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||4/21|XM_011530444.3:c.82-1983_82-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||3/20|XM_011530445.3:c.82-1983_82-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||3/19|XM_011530448.3:c.82-2506_82-2501dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||2/20|XM_011530453.3:c.-385-163_-385-158dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||2/19|XM_011530454.3:c.-261-1983_-261-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-261-1983_-261-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||1/18|XM_024452287.2:c.244-1983_244-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||1/17|XM_024452288.2:c.244-1983_244-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||1/17|XM_024452289.2:c.244-1983_244-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||1/17|XM_024452290.2:c.244-2506_244-2501dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||1/17|XM_024452291.2:c.244-2506_244-2501dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||1/18|XM_047441538.1:c.244-1983_244-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||2/19|XM_047441539.1:c.82-1983_82-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||4/21|XM_047441540.1:c.82-1983_82-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||2/18|XM_047441541.1:c.82-1983_82-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||1/16|XM_047441542.1:c.244-2506_244-2501dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||3/19|XM_047441543.1:c.82-1983_82-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||4/20|XM_047441544.1:c.82-1983_82-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||2/18|XM_047441545.1:c.82-1983_82-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||3/19|XM_047441546.1:c.82-1983_82-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||3/19|XM_047441547.1:c.82-2506_82-2501dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-261-1983_-261-1978dup|||||||rs35763537||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq|||||||chr22:g.29827787_29827792dup|||||||||||||,ACACAC|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FSMQ|enhancer||||||||||rs35763537|||||||||||||||||||||chr22:g.29827787_29827792dup|||||||||||||;TYPE=INDEL;VEP_Allele=ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC,ACACAC;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1,ENSR22_9FSMQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,.;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28746;gnomADv4_1_AC_joint_XX=15760;gnomADv4_1_AC_joint_XY=12986;gnomADv4_1_AF_grpmax_joint=0.533088;gnomADv4_1_AF_joint=0.285263;gnomADv4_1_AF_joint_XX=0.293482;gnomADv4_1_AF_joint_XY=0.275887;gnomADv4_1_AN_grpmax_joint=2992;gnomADv4_1_AN_joint=100770;gnomADv4_1_AN_joint_XX=53700;gnomADv4_1_AN_joint_XY=47070;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5335;gnomADv4_1_nhomalt_joint_XX=2983;gnomADv4_1_nhomalt_joint_XY=2352;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29827807 chr22_29827807_T_TCTC T TCTC 21 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=21;CADDIndel_PHREDscore=0.861;CADDIndel_Rawscore=-0.056247;CSQ=CTC|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||2/19|ENST00000307790.8:c.82-2028_82-2027insGAG|||||||rs148580571||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||3/20|ENST00000397771.6:c.82-2028_82-2027insGAG|||||||rs148580571||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||1/4|ENST00000412689.5:n.99-2028_99-2027insGAG|||||||rs148580571||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||3/7|ENST00000431535.5:c.82-2028_82-2027insGAG|||||||rs148580571||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.329+4437_329+4438insGAG|||||||rs148580571||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||3/4|ENST00000453160.5:c.*58-2028_*58-2027insGAG|||||||rs148580571||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||3/4|ENST00000454854.5:c.82-208_82-207insGAG|||||||rs148580571||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||2/20|ENST00000458594.5:c.82-208_82-207insGAG|||||||rs148580571||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||3/4|ENST00000460313.1:n.313-2028_313-2027insGAG|||||||rs148580571||-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||1/1|ENST00000462454.1:n.337-2551_337-2550insGAG|||||||rs148580571||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs148580571|2449|-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||3/5|ENST00000465667.6:n.224-2028_224-2027insGAG|||||||rs148580571||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs148580571|1676|-1||HGNC|HGNC:24103|4||||||||Ensembl|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||2/3|ENST00000495681.5:n.207-2028_207-2027insGAG|||||||rs148580571||-1||HGNC|HGNC:24103|5||||||||Ensembl|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.98-2551_98-2550insGAG|||||||rs148580571||-1||HGNC|HGNC:24103|4||||||||Ensembl|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||2/18|ENST00000542393.5:c.82-2551_82-2550insGAG|||||||rs148580571||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||2/18|NM_001242906.2:c.82-2551_82-2550insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||2/19|NM_001369920.1:c.82-2028_82-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||4/21|NM_001369921.1:c.82-2028_82-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||3/20|NM_001369922.1:c.82-2028_82-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||3/20|NM_001369923.1:c.82-2028_82-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||2/19|NM_001369924.1:c.82-2028_82-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||2/18|NM_001369925.1:c.82-2551_82-2550insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||3/19|NM_001369926.1:c.82-2551_82-2550insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||2/18|NM_001369927.1:c.82-2551_82-2550insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||4/20|NM_001369928.1:c.82-2551_82-2550insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||2/18|NM_001369929.1:c.82-2551_82-2550insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||2/17|NM_001369930.1:c.82-2551_82-2550insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||4/22|NM_001369931.1:c.-385-208_-385-207insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||2/20|NM_001369932.1:c.-385-208_-385-207insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||2/19|NM_001369933.1:c.-261-2028_-261-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-261-2028_-261-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||2/20|NM_001369935.1:c.-385-208_-385-207insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-102-2551_-102-2550insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||2/18|NM_001369937.1:c.-102-2551_-102-2550insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||3/20|NM_001369938.1:c.-188-2101_-188-2100insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-188-2101_-188-2100insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-385-208_-385-207insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-261-2028_-261-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-123-5344_-123-5343insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-497-2028_-497-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-168+6681_-168+6682insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-749-2028_-749-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||3/20|NM_001369946.1:c.-621-208_-621-207insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-338-2551_-338-2550insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||2/20|NM_001369948.1:c.-749-2028_-749-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-590-2551_-590-2550insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-290+4437_-290+4438insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||2/19|NM_032204.5:c.82-2028_82-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||3/20|XM_011530442.4:c.82-2028_82-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||4/21|XM_011530443.3:c.82-2028_82-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||4/21|XM_011530444.3:c.82-2028_82-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||3/20|XM_011530445.3:c.82-2028_82-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||3/19|XM_011530448.3:c.82-2551_82-2550insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||2/20|XM_011530453.3:c.-385-208_-385-207insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||2/19|XM_011530454.3:c.-261-2028_-261-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-261-2028_-261-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||1/18|XM_024452287.2:c.244-2028_244-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||1/17|XM_024452288.2:c.244-2028_244-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||1/17|XM_024452289.2:c.244-2028_244-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||1/17|XM_024452290.2:c.244-2551_244-2550insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||1/17|XM_024452291.2:c.244-2551_244-2550insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||1/18|XM_047441538.1:c.244-2028_244-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||2/19|XM_047441539.1:c.82-2028_82-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||4/21|XM_047441540.1:c.82-2028_82-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||2/18|XM_047441541.1:c.82-2028_82-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||1/16|XM_047441542.1:c.244-2551_244-2550insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||3/19|XM_047441543.1:c.82-2028_82-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||4/20|XM_047441544.1:c.82-2028_82-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||2/18|XM_047441545.1:c.82-2028_82-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||3/19|XM_047441546.1:c.82-2028_82-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||3/19|XM_047441547.1:c.82-2551_82-2550insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-261-2028_-261-2027insGAG|||||||rs148580571||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq|||||||chr22:g.29827809_29827810insCCT|||||||||||||,CTC|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FSMQ|enhancer||||||||||rs148580571|||||||||||||||||||||chr22:g.29827809_29827810insCCT|||||||||||||;TYPE=INDEL;VEP_Allele=CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC,CTC;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1,ENSR22_9FSMQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,.;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50810;gnomADv4_1_AC_joint_XX=27526;gnomADv4_1_AC_joint_XY=23284;gnomADv4_1_AF_grpmax_joint=0.668392;gnomADv4_1_AF_joint=0.5412;gnomADv4_1_AF_joint_XX=0.552687;gnomADv4_1_AF_joint_XY=0.528221;gnomADv4_1_AN_grpmax_joint=2898;gnomADv4_1_AN_joint=93884;gnomADv4_1_AN_joint_XX=49804;gnomADv4_1_AN_joint_XY=44080;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15760;gnomADv4_1_nhomalt_joint_XX=8624;gnomADv4_1_nhomalt_joint_XY=7136;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29827824 chr22_29827824_C_T C T 25 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=25;CADD_PHREDscore=0.567;CADD_Rawscore=-0.161691;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||2/19|ENST00000307790.8:c.82-2044G>A|||||||rs1961926||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||3/20|ENST00000397771.6:c.82-2044G>A|||||||rs1961926||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||1/4|ENST00000412689.5:n.99-2044G>A|||||||rs1961926||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||3/7|ENST00000431535.5:c.82-2044G>A|||||||rs1961926||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.329+4421G>A|||||||rs1961926||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||3/4|ENST00000453160.5:c.*58-2044G>A|||||||rs1961926||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||3/4|ENST00000454854.5:c.82-224G>A|||||||rs1961926||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||2/20|ENST00000458594.5:c.82-224G>A|||||||rs1961926||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||3/4|ENST00000460313.1:n.313-2044G>A|||||||rs1961926||-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||1/1|ENST00000462454.1:n.337-2567G>A|||||||rs1961926||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29827824C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs1961926|2466|-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||3/5|ENST00000465667.6:n.224-2044G>A|||||||rs1961926||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29827824C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs1961926|1693|-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||2/3|ENST00000495681.5:n.207-2044G>A|||||||rs1961926||-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.98-2567G>A|||||||rs1961926||-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||2/18|ENST00000542393.5:c.82-2567G>A|||||||rs1961926||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||2/18|NM_001242906.2:c.82-2567G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||2/19|NM_001369920.1:c.82-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||4/21|NM_001369921.1:c.82-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||3/20|NM_001369922.1:c.82-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||3/20|NM_001369923.1:c.82-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||2/19|NM_001369924.1:c.82-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||2/18|NM_001369925.1:c.82-2567G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||3/19|NM_001369926.1:c.82-2567G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||2/18|NM_001369927.1:c.82-2567G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||4/20|NM_001369928.1:c.82-2567G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||2/18|NM_001369929.1:c.82-2567G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||2/17|NM_001369930.1:c.82-2567G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||4/22|NM_001369931.1:c.-385-224G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||2/20|NM_001369932.1:c.-385-224G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||2/19|NM_001369933.1:c.-261-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-261-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||2/20|NM_001369935.1:c.-385-224G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-102-2567G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||2/18|NM_001369937.1:c.-102-2567G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||3/20|NM_001369938.1:c.-188-2117G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-188-2117G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-385-224G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-261-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-123-5360G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-497-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-168+6665G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-749-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||3/20|NM_001369946.1:c.-621-224G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-338-2567G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||2/20|NM_001369948.1:c.-749-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-590-2567G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-290+4421G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||2/19|NM_032204.5:c.82-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||3/20|XM_011530442.4:c.82-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||4/21|XM_011530443.3:c.82-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||4/21|XM_011530444.3:c.82-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||3/20|XM_011530445.3:c.82-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||3/19|XM_011530448.3:c.82-2567G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||2/20|XM_011530453.3:c.-385-224G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||2/19|XM_011530454.3:c.-261-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-261-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||1/18|XM_024452287.2:c.244-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||1/17|XM_024452288.2:c.244-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||1/17|XM_024452289.2:c.244-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||1/17|XM_024452290.2:c.244-2567G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||1/17|XM_024452291.2:c.244-2567G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||1/18|XM_047441538.1:c.244-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||2/19|XM_047441539.1:c.82-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||4/21|XM_047441540.1:c.82-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||2/18|XM_047441541.1:c.82-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||1/16|XM_047441542.1:c.244-2567G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||3/19|XM_047441543.1:c.82-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||4/20|XM_047441544.1:c.82-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||2/18|XM_047441545.1:c.82-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||3/19|XM_047441546.1:c.82-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||3/19|XM_047441547.1:c.82-2567G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-261-2044G>A|||||||rs1961926||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29827824C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FSMQ|enhancer||||||||||rs1961926|||||||||||||||||||||chr22:g.29827824C>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|-2|-47|3|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1,ENSR22_9FSMQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,.;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50552;gnomADv4_1_AC_joint_XX=27421;gnomADv4_1_AC_joint_XY=23131;gnomADv4_1_AF_grpmax_joint=0.642066;gnomADv4_1_AF_joint=0.502695;gnomADv4_1_AF_joint_XX=0.519731;gnomADv4_1_AF_joint_XY=0.483892;gnomADv4_1_AN_grpmax_joint=26558;gnomADv4_1_AN_joint=100562;gnomADv4_1_AN_joint_XX=52760;gnomADv4_1_AN_joint_XY=47802;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=15627;gnomADv4_1_nhomalt_joint_XX=8562;gnomADv4_1_nhomalt_joint_XY=7065;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29827856 chr22_29827856_G_GAC G GAC 35 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=35;CADDIndel_PHREDscore=0.461;CADDIndel_Rawscore=-0.213679;CSQ=AC|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||2/19|ENST00000307790.8:c.82-2078_82-2077dup|||||||rs5844871||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||3/20|ENST00000397771.6:c.82-2078_82-2077dup|||||||rs5844871||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||1/4|ENST00000412689.5:n.99-2078_99-2077dup|||||||rs5844871||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||3/7|ENST00000431535.5:c.82-2078_82-2077dup|||||||rs5844871||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.329+4387_329+4388dup|||||||rs5844871||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||3/4|ENST00000453160.5:c.*58-2078_*58-2077dup|||||||rs5844871||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||3/4|ENST00000454854.5:c.82-258_82-257dup|||||||rs5844871||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||2/20|ENST00000458594.5:c.82-258_82-257dup|||||||rs5844871||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||3/4|ENST00000460313.1:n.313-2078_313-2077dup|||||||rs5844871||-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||1/1|ENST00000462454.1:n.337-2601_337-2600dup|||||||rs5844871||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs5844871|2498|-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||3/5|ENST00000465667.6:n.224-2078_224-2077dup|||||||rs5844871||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs5844871|1725|-1||HGNC|HGNC:24103|4||||||||Ensembl|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||2/3|ENST00000495681.5:n.207-2078_207-2077dup|||||||rs5844871||-1||HGNC|HGNC:24103|5||||||||Ensembl|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.98-2601_98-2600dup|||||||rs5844871||-1||HGNC|HGNC:24103|4||||||||Ensembl|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||2/18|ENST00000542393.5:c.82-2601_82-2600dup|||||||rs5844871||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||2/18|NM_001242906.2:c.82-2601_82-2600dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||2/19|NM_001369920.1:c.82-2078_82-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||4/21|NM_001369921.1:c.82-2078_82-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||3/20|NM_001369922.1:c.82-2078_82-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||3/20|NM_001369923.1:c.82-2078_82-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||2/19|NM_001369924.1:c.82-2078_82-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||2/18|NM_001369925.1:c.82-2601_82-2600dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||3/19|NM_001369926.1:c.82-2601_82-2600dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||2/18|NM_001369927.1:c.82-2601_82-2600dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||4/20|NM_001369928.1:c.82-2601_82-2600dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||2/18|NM_001369929.1:c.82-2601_82-2600dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||2/17|NM_001369930.1:c.82-2601_82-2600dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||4/22|NM_001369931.1:c.-385-258_-385-257dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||2/20|NM_001369932.1:c.-385-258_-385-257dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||2/19|NM_001369933.1:c.-261-2078_-261-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-261-2078_-261-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||2/20|NM_001369935.1:c.-385-258_-385-257dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-102-2601_-102-2600dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||2/18|NM_001369937.1:c.-102-2601_-102-2600dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||3/20|NM_001369938.1:c.-188-2151_-188-2150dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-188-2151_-188-2150dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-385-258_-385-257dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-261-2078_-261-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-123-5394_-123-5393dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-497-2078_-497-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-168+6631_-168+6632dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-749-2078_-749-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||3/20|NM_001369946.1:c.-621-258_-621-257dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-338-2601_-338-2600dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||2/20|NM_001369948.1:c.-749-2078_-749-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-590-2601_-590-2600dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-290+4387_-290+4388dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||2/19|NM_032204.5:c.82-2078_82-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||3/20|XM_011530442.4:c.82-2078_82-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||4/21|XM_011530443.3:c.82-2078_82-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||4/21|XM_011530444.3:c.82-2078_82-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||3/20|XM_011530445.3:c.82-2078_82-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||3/19|XM_011530448.3:c.82-2601_82-2600dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||2/20|XM_011530453.3:c.-385-258_-385-257dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||2/19|XM_011530454.3:c.-261-2078_-261-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-261-2078_-261-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||1/18|XM_024452287.2:c.244-2078_244-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||1/17|XM_024452288.2:c.244-2078_244-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||1/17|XM_024452289.2:c.244-2078_244-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||1/17|XM_024452290.2:c.244-2601_244-2600dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||1/17|XM_024452291.2:c.244-2601_244-2600dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||1/18|XM_047441538.1:c.244-2078_244-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||2/19|XM_047441539.1:c.82-2078_82-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||4/21|XM_047441540.1:c.82-2078_82-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||2/18|XM_047441541.1:c.82-2078_82-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||1/16|XM_047441542.1:c.244-2601_244-2600dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||3/19|XM_047441543.1:c.82-2078_82-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||4/20|XM_047441544.1:c.82-2078_82-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||2/18|XM_047441545.1:c.82-2078_82-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||3/19|XM_047441546.1:c.82-2078_82-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||3/19|XM_047441547.1:c.82-2601_82-2600dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-261-2078_-261-2077dup|||||||rs5844871||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq|||||||chr22:g.29827879_29827880dup|||||||||||||,AC|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FSMQ|enhancer||||||||||rs5844871|||||||||||||||||||||chr22:g.29827879_29827880dup|||||||||||||;TYPE=INDEL;VEP_Allele=AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC,AC;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1,ENSR22_9FSMQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,.;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12927;gnomADv4_1_AC_joint_XX=7101;gnomADv4_1_AC_joint_XY=5826;gnomADv4_1_AF_grpmax_joint=0.624071;gnomADv4_1_AF_joint=0.299736;gnomADv4_1_AF_joint_XX=0.310033;gnomADv4_1_AF_joint_XY=0.288074;gnomADv4_1_AN_grpmax_joint=1346;gnomADv4_1_AN_joint=43128;gnomADv4_1_AN_joint_XX=22904;gnomADv4_1_AN_joint_XY=20224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4175;gnomADv4_1_nhomalt_joint_XX=2298;gnomADv4_1_nhomalt_joint_XY=1877;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29827899 chr22_29827899_GAC_G GAC G 25 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=25;CADDIndel_PHREDscore=0.684;CADDIndel_Rawscore=-0.114694;CSQ=-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||2/19|ENST00000307790.8:c.82-2121_82-2120del|||||||rs5844872||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||3/20|ENST00000397771.6:c.82-2121_82-2120del|||||||rs5844872||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||1/4|ENST00000412689.5:n.99-2121_99-2120del|||||||rs5844872||-1||HGNC|HGNC:24103|3||||||||Ensembl||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||3/7|ENST00000431535.5:c.82-2121_82-2120del|||||||rs5844872||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.329+4344_329+4345del|||||||rs5844872||-1||HGNC|HGNC:24103|3||||||||Ensembl||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||3/4|ENST00000453160.5:c.*58-2121_*58-2120del|||||||rs5844872||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||3/4|ENST00000454854.5:c.82-301_82-300del|||||||rs5844872||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||2/20|ENST00000458594.5:c.82-301_82-300del|||||||rs5844872||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||3/4|ENST00000460313.1:n.313-2121_313-2120del|||||||rs5844872||-1||HGNC|HGNC:24103|2||||||||Ensembl||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||1/1|ENST00000462454.1:n.337-2644_337-2643del|||||||rs5844872||-1||HGNC|HGNC:24103|3||||||||Ensembl||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs5844872|2542|-1||HGNC|HGNC:24103|2||||||||Ensembl||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||3/5|ENST00000465667.6:n.224-2121_224-2120del|||||||rs5844872||-1||HGNC|HGNC:24103|3||||||||Ensembl||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs5844872|1769|-1||HGNC|HGNC:24103|4||||||||Ensembl||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||2/3|ENST00000495681.5:n.207-2121_207-2120del|||||||rs5844872||-1||HGNC|HGNC:24103|5||||||||Ensembl||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.98-2644_98-2643del|||||||rs5844872||-1||HGNC|HGNC:24103|4||||||||Ensembl||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||2/18|ENST00000542393.5:c.82-2644_82-2643del|||||||rs5844872||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||2/18|NM_001242906.2:c.82-2644_82-2643del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||2/19|NM_001369920.1:c.82-2121_82-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||4/21|NM_001369921.1:c.82-2121_82-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||3/20|NM_001369922.1:c.82-2121_82-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||3/20|NM_001369923.1:c.82-2121_82-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||2/19|NM_001369924.1:c.82-2121_82-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||2/18|NM_001369925.1:c.82-2644_82-2643del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||3/19|NM_001369926.1:c.82-2644_82-2643del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||2/18|NM_001369927.1:c.82-2644_82-2643del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||4/20|NM_001369928.1:c.82-2644_82-2643del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||2/18|NM_001369929.1:c.82-2644_82-2643del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||2/17|NM_001369930.1:c.82-2644_82-2643del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||4/22|NM_001369931.1:c.-385-301_-385-300del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||2/20|NM_001369932.1:c.-385-301_-385-300del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||2/19|NM_001369933.1:c.-261-2121_-261-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-261-2121_-261-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||2/20|NM_001369935.1:c.-385-301_-385-300del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-102-2644_-102-2643del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||2/18|NM_001369937.1:c.-102-2644_-102-2643del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||3/20|NM_001369938.1:c.-188-2194_-188-2193del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-188-2194_-188-2193del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-385-301_-385-300del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-261-2121_-261-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-123-5437_-123-5436del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-497-2121_-497-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-168+6588_-168+6589del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-749-2121_-749-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||3/20|NM_001369946.1:c.-621-301_-621-300del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-338-2644_-338-2643del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||2/20|NM_001369948.1:c.-749-2121_-749-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-590-2644_-590-2643del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-290+4344_-290+4345del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||2/19|NM_032204.5:c.82-2121_82-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||3/20|XM_011530442.4:c.82-2121_82-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||4/21|XM_011530443.3:c.82-2121_82-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||4/21|XM_011530444.3:c.82-2121_82-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||3/20|XM_011530445.3:c.82-2121_82-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||3/19|XM_011530448.3:c.82-2644_82-2643del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||2/20|XM_011530453.3:c.-385-301_-385-300del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||2/19|XM_011530454.3:c.-261-2121_-261-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-261-2121_-261-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||1/18|XM_024452287.2:c.244-2121_244-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||1/17|XM_024452288.2:c.244-2121_244-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||1/17|XM_024452289.2:c.244-2121_244-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||1/17|XM_024452290.2:c.244-2644_244-2643del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||1/17|XM_024452291.2:c.244-2644_244-2643del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||1/18|XM_047441538.1:c.244-2121_244-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||2/19|XM_047441539.1:c.82-2121_82-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||4/21|XM_047441540.1:c.82-2121_82-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||2/18|XM_047441541.1:c.82-2121_82-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||1/16|XM_047441542.1:c.244-2644_244-2643del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||3/19|XM_047441543.1:c.82-2121_82-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||4/20|XM_047441544.1:c.82-2121_82-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||2/18|XM_047441545.1:c.82-2121_82-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||3/19|XM_047441546.1:c.82-2121_82-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||3/19|XM_047441547.1:c.82-2644_82-2643del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-261-2121_-261-2120del|||||||rs5844872||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||AC|AC||||chr22:g.29827928_29827929del|||1||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FSMQ|enhancer||||||||||rs5844872|||||||||||||||||||||chr22:g.29827928_29827929del|||1||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|-6|-3|-18|-34;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1,ENSR22_9FSMQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,.;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18227;gnomADv4_1_AC_joint_XX=10049;gnomADv4_1_AC_joint_XY=8178;gnomADv4_1_AF_grpmax_joint=0.539053;gnomADv4_1_AF_joint=0.456542;gnomADv4_1_AF_joint_XX=0.466138;gnomADv4_1_AF_joint_XY=0.445279;gnomADv4_1_AN_grpmax_joint=20536;gnomADv4_1_AN_joint=39924;gnomADv4_1_AN_joint_XX=21558;gnomADv4_1_AN_joint_XY=18366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5580;gnomADv4_1_nhomalt_joint_XX=3110;gnomADv4_1_nhomalt_joint_XY=2470;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29827948 chr22_29827948_GACACAC_G;chr22_29827948_GAC_G GAC G 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=30;CADDIndel_PHREDscore=0.659;CADDIndel_Rawscore=-0.12412;CSQ=-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||2/19|ENST00000307790.8:c.82-2170_82-2169del|||||||rs5844874||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||3/20|ENST00000397771.6:c.82-2170_82-2169del|||||||rs5844874||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||1/4|ENST00000412689.5:n.99-2170_99-2169del|||||||rs5844874||-1||HGNC|HGNC:24103|3||||||||Ensembl||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||3/7|ENST00000431535.5:c.82-2170_82-2169del|||||||rs5844874||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.329+4295_329+4296del|||||||rs5844874||-1||HGNC|HGNC:24103|3||||||||Ensembl||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||3/4|ENST00000453160.5:c.*58-2170_*58-2169del|||||||rs5844874||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||3/4|ENST00000454854.5:c.82-350_82-349del|||||||rs5844874||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||2/20|ENST00000458594.5:c.82-350_82-349del|||||||rs5844874||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||3/4|ENST00000460313.1:n.313-2170_313-2169del|||||||rs5844874||-1||HGNC|HGNC:24103|2||||||||Ensembl||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||1/1|ENST00000462454.1:n.337-2693_337-2692del|||||||rs5844874||-1||HGNC|HGNC:24103|3||||||||Ensembl||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs5844874|2591|-1||HGNC|HGNC:24103|2||||||||Ensembl||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||3/5|ENST00000465667.6:n.224-2170_224-2169del|||||||rs5844874||-1||HGNC|HGNC:24103|3||||||||Ensembl||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs5844874|1818|-1||HGNC|HGNC:24103|4||||||||Ensembl||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||2/3|ENST00000495681.5:n.207-2170_207-2169del|||||||rs5844874||-1||HGNC|HGNC:24103|5||||||||Ensembl||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.98-2693_98-2692del|||||||rs5844874||-1||HGNC|HGNC:24103|4||||||||Ensembl||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||2/18|ENST00000542393.5:c.82-2693_82-2692del|||||||rs5844874||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||2/18|NM_001242906.2:c.82-2693_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||2/19|NM_001369920.1:c.82-2170_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||4/21|NM_001369921.1:c.82-2170_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||3/20|NM_001369922.1:c.82-2170_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||3/20|NM_001369923.1:c.82-2170_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||2/19|NM_001369924.1:c.82-2170_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||2/18|NM_001369925.1:c.82-2693_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||3/19|NM_001369926.1:c.82-2693_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||2/18|NM_001369927.1:c.82-2693_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||4/20|NM_001369928.1:c.82-2693_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||2/18|NM_001369929.1:c.82-2693_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||2/17|NM_001369930.1:c.82-2693_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||4/22|NM_001369931.1:c.-385-350_-385-349del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||2/20|NM_001369932.1:c.-385-350_-385-349del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||2/19|NM_001369933.1:c.-261-2170_-261-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-261-2170_-261-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||2/20|NM_001369935.1:c.-385-350_-385-349del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-102-2693_-102-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||2/18|NM_001369937.1:c.-102-2693_-102-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||3/20|NM_001369938.1:c.-188-2243_-188-2242del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-188-2243_-188-2242del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-385-350_-385-349del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-261-2170_-261-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-123-5486_-123-5485del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-497-2170_-497-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-168+6539_-168+6540del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-749-2170_-749-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||3/20|NM_001369946.1:c.-621-350_-621-349del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-338-2693_-338-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||2/20|NM_001369948.1:c.-749-2170_-749-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-590-2693_-590-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-290+4295_-290+4296del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||2/19|NM_032204.5:c.82-2170_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||3/20|XM_011530442.4:c.82-2170_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||4/21|XM_011530443.3:c.82-2170_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||4/21|XM_011530444.3:c.82-2170_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||3/20|XM_011530445.3:c.82-2170_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||3/19|XM_011530448.3:c.82-2693_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||2/20|XM_011530453.3:c.-385-350_-385-349del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||2/19|XM_011530454.3:c.-261-2170_-261-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-261-2170_-261-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||1/18|XM_024452287.2:c.244-2170_244-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||1/17|XM_024452288.2:c.244-2170_244-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||1/17|XM_024452289.2:c.244-2170_244-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||1/17|XM_024452290.2:c.244-2693_244-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||1/17|XM_024452291.2:c.244-2693_244-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||1/18|XM_047441538.1:c.244-2170_244-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||2/19|XM_047441539.1:c.82-2170_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||4/21|XM_047441540.1:c.82-2170_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||2/18|XM_047441541.1:c.82-2170_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||1/16|XM_047441542.1:c.244-2693_244-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||3/19|XM_047441543.1:c.82-2170_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||4/20|XM_047441544.1:c.82-2170_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||2/18|XM_047441545.1:c.82-2170_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||3/19|XM_047441546.1:c.82-2170_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||3/19|XM_047441547.1:c.82-2693_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-261-2170_-261-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||AC|AC||||chr22:g.29827979_29827980del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FSMQ|enhancer||||||||||rs5844874|||||||||||||||||||||chr22:g.29827979_29827980del|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|23|-15|-32|17;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1,ENSR22_9FSMQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,.;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33164;gnomADv4_1_AC_joint_XX=17678;gnomADv4_1_AC_joint_XY=15486;gnomADv4_1_AF_grpmax_joint=0.561728;gnomADv4_1_AF_joint=0.446437;gnomADv4_1_AF_joint_XX=0.452308;gnomADv4_1_AF_joint_XY=0.439918;gnomADv4_1_AN_grpmax_joint=162;gnomADv4_1_AN_joint=74286;gnomADv4_1_AN_joint_XX=39084;gnomADv4_1_AN_joint_XY=35202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=10556;gnomADv4_1_nhomalt_joint_XX=5675;gnomADv4_1_nhomalt_joint_XY=4881;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29827948 chr22_29827948_GACACAC_G;chr22_29827948_GAC_G GACACAC G 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=30;CADDIndel_PHREDscore=0.806;CADDIndel_Rawscore=-0.073207;CSQ=-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||2/19|ENST00000307790.8:c.82-2174_82-2169del|||||||rs5844874||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||3/20|ENST00000397771.6:c.82-2174_82-2169del|||||||rs5844874||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||1/4|ENST00000412689.5:n.99-2174_99-2169del|||||||rs5844874||-1||HGNC|HGNC:24103|3||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||3/7|ENST00000431535.5:c.82-2174_82-2169del|||||||rs5844874||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.329+4291_329+4296del|||||||rs5844874||-1||HGNC|HGNC:24103|3||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||3/4|ENST00000453160.5:c.*58-2174_*58-2169del|||||||rs5844874||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||3/4|ENST00000454854.5:c.82-354_82-349del|||||||rs5844874||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||2/20|ENST00000458594.5:c.82-354_82-349del|||||||rs5844874||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||3/4|ENST00000460313.1:n.313-2174_313-2169del|||||||rs5844874||-1||HGNC|HGNC:24103|2||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||1/1|ENST00000462454.1:n.337-2697_337-2692del|||||||rs5844874||-1||HGNC|HGNC:24103|3||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs5844874|2591|-1||HGNC|HGNC:24103|2||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||3/5|ENST00000465667.6:n.224-2174_224-2169del|||||||rs5844874||-1||HGNC|HGNC:24103|3||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs5844874|1818|-1||HGNC|HGNC:24103|4||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||2/3|ENST00000495681.5:n.207-2174_207-2169del|||||||rs5844874||-1||HGNC|HGNC:24103|5||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.98-2697_98-2692del|||||||rs5844874||-1||HGNC|HGNC:24103|4||||||||Ensembl||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||2/18|ENST00000542393.5:c.82-2697_82-2692del|||||||rs5844874||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||2/18|NM_001242906.2:c.82-2697_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||2/19|NM_001369920.1:c.82-2174_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||4/21|NM_001369921.1:c.82-2174_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||3/20|NM_001369922.1:c.82-2174_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||3/20|NM_001369923.1:c.82-2174_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||2/19|NM_001369924.1:c.82-2174_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||2/18|NM_001369925.1:c.82-2697_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||3/19|NM_001369926.1:c.82-2697_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||2/18|NM_001369927.1:c.82-2697_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||4/20|NM_001369928.1:c.82-2697_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||2/18|NM_001369929.1:c.82-2697_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||2/17|NM_001369930.1:c.82-2697_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||4/22|NM_001369931.1:c.-385-354_-385-349del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||2/20|NM_001369932.1:c.-385-354_-385-349del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||2/19|NM_001369933.1:c.-261-2174_-261-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-261-2174_-261-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||2/20|NM_001369935.1:c.-385-354_-385-349del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-102-2697_-102-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||2/18|NM_001369937.1:c.-102-2697_-102-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||3/20|NM_001369938.1:c.-188-2247_-188-2242del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-188-2247_-188-2242del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-385-354_-385-349del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-261-2174_-261-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-123-5490_-123-5485del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-497-2174_-497-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-168+6535_-168+6540del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-749-2174_-749-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||3/20|NM_001369946.1:c.-621-354_-621-349del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-338-2697_-338-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||2/20|NM_001369948.1:c.-749-2174_-749-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-590-2697_-590-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-290+4291_-290+4296del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||2/19|NM_032204.5:c.82-2174_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||3/20|XM_011530442.4:c.82-2174_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||4/21|XM_011530443.3:c.82-2174_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||4/21|XM_011530444.3:c.82-2174_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||3/20|XM_011530445.3:c.82-2174_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||3/19|XM_011530448.3:c.82-2697_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||2/20|XM_011530453.3:c.-385-354_-385-349del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||2/19|XM_011530454.3:c.-261-2174_-261-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-261-2174_-261-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||1/18|XM_024452287.2:c.244-2174_244-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||1/17|XM_024452288.2:c.244-2174_244-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||1/17|XM_024452289.2:c.244-2174_244-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||1/17|XM_024452290.2:c.244-2697_244-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||1/17|XM_024452291.2:c.244-2697_244-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||1/18|XM_047441538.1:c.244-2174_244-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||2/19|XM_047441539.1:c.82-2174_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||4/21|XM_047441540.1:c.82-2174_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||2/18|XM_047441541.1:c.82-2174_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||1/16|XM_047441542.1:c.244-2697_244-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||3/19|XM_047441543.1:c.82-2174_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||4/20|XM_047441544.1:c.82-2174_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||2/18|XM_047441545.1:c.82-2174_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||3/19|XM_047441546.1:c.82-2174_82-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||3/19|XM_047441547.1:c.82-2697_82-2692del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-261-2174_-261-2169del|||||||rs5844874||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||ACACAC|ACACAC||||chr22:g.29827975_29827980del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FSMQ|enhancer||||||||||rs5844874|||||||||||||||||||||chr22:g.29827975_29827980del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1,ENSR22_9FSMQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,.;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26333;gnomADv4_1_AC_joint_XX=13974;gnomADv4_1_AC_joint_XY=12359;gnomADv4_1_AF_grpmax_joint=0.575168;gnomADv4_1_AF_joint=0.354462;gnomADv4_1_AF_joint_XX=0.357501;gnomADv4_1_AF_joint_XY=0.351088;gnomADv4_1_AN_grpmax_joint=2980;gnomADv4_1_AN_joint=74290;gnomADv4_1_AN_joint_XX=39088;gnomADv4_1_AN_joint_XY=35202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7539;gnomADv4_1_nhomalt_joint_XX=4030;gnomADv4_1_nhomalt_joint_XY=3509;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29828002 chr22_29828002_A_G A G 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.52;CADD_Rawscore=-0.183484;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||2/19|ENST00000307790.8:c.82-2222T>C|||||||rs1076137||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||3/20|ENST00000397771.6:c.82-2222T>C|||||||rs1076137||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||1/4|ENST00000412689.5:n.99-2222T>C|||||||rs1076137||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||3/7|ENST00000431535.5:c.82-2222T>C|||||||rs1076137||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.329+4243T>C|||||||rs1076137||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||3/4|ENST00000453160.5:c.*58-2222T>C|||||||rs1076137||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||3/4|ENST00000454854.5:c.82-402T>C|||||||rs1076137||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||2/20|ENST00000458594.5:c.82-402T>C|||||||rs1076137||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||3/4|ENST00000460313.1:n.313-2222T>C|||||||rs1076137||-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||1/1|ENST00000462454.1:n.337-2745T>C|||||||rs1076137||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29828002A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs1076137|2644|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||3/5|ENST00000465667.6:n.224-2222T>C|||||||rs1076137||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29828002A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs1076137|1871|-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||2/3|ENST00000495681.5:n.207-2222T>C|||||||rs1076137||-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.98-2745T>C|||||||rs1076137||-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||2/18|ENST00000542393.5:c.82-2745T>C|||||||rs1076137||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||2/18|NM_001242906.2:c.82-2745T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||2/19|NM_001369920.1:c.82-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||4/21|NM_001369921.1:c.82-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||3/20|NM_001369922.1:c.82-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||3/20|NM_001369923.1:c.82-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||2/19|NM_001369924.1:c.82-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||2/18|NM_001369925.1:c.82-2745T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||3/19|NM_001369926.1:c.82-2745T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||2/18|NM_001369927.1:c.82-2745T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||4/20|NM_001369928.1:c.82-2745T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||2/18|NM_001369929.1:c.82-2745T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||2/17|NM_001369930.1:c.82-2745T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||4/22|NM_001369931.1:c.-385-402T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||2/20|NM_001369932.1:c.-385-402T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||2/19|NM_001369933.1:c.-261-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-261-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||2/20|NM_001369935.1:c.-385-402T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-102-2745T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||2/18|NM_001369937.1:c.-102-2745T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||3/20|NM_001369938.1:c.-188-2295T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-188-2295T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-385-402T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-261-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-123-5538T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-497-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-168+6487T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-749-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||3/20|NM_001369946.1:c.-621-402T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-338-2745T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||2/20|NM_001369948.1:c.-749-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-590-2745T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-290+4243T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||2/19|NM_032204.5:c.82-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||3/20|XM_011530442.4:c.82-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||4/21|XM_011530443.3:c.82-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||4/21|XM_011530444.3:c.82-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||3/20|XM_011530445.3:c.82-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||3/19|XM_011530448.3:c.82-2745T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||2/20|XM_011530453.3:c.-385-402T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||2/19|XM_011530454.3:c.-261-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-261-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||1/18|XM_024452287.2:c.244-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||1/17|XM_024452288.2:c.244-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||1/17|XM_024452289.2:c.244-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||1/17|XM_024452290.2:c.244-2745T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||1/17|XM_024452291.2:c.244-2745T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||1/18|XM_047441538.1:c.244-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||2/19|XM_047441539.1:c.82-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||4/21|XM_047441540.1:c.82-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||2/18|XM_047441541.1:c.82-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||1/16|XM_047441542.1:c.244-2745T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||3/19|XM_047441543.1:c.82-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||4/20|XM_047441544.1:c.82-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||2/18|XM_047441545.1:c.82-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||3/19|XM_047441546.1:c.82-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||3/19|XM_047441547.1:c.82-2745T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-261-2222T>C|||||||rs1076137||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29828002A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FSMQ|enhancer||||||||||rs1076137|||||||||||||||||||||chr22:g.29828002A>G|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|26|2|-21|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1,ENSR22_9FSMQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,.;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87017;gnomADv4_1_AC_joint_XX=44226;gnomADv4_1_AC_joint_XY=42791;gnomADv4_1_AF_grpmax_joint=0.947244;gnomADv4_1_AF_joint=0.791078;gnomADv4_1_AF_joint_XX=0.794317;gnomADv4_1_AF_joint_XY=0.787758;gnomADv4_1_AN_grpmax_joint=32224;gnomADv4_1_AN_joint=109998;gnomADv4_1_AN_joint_XX=55678;gnomADv4_1_AN_joint_XY=54320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=36133;gnomADv4_1_nhomalt_joint_XX=18481;gnomADv4_1_nhomalt_joint_XY=17652;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29829138 chr22_29829138_T_C T C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=4.253;CADD_Rawscore=0.387731;CSQ=C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||2/19|ENST00000307790.8:c.81+3107A>G|||||||rs111907377||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||3/20|ENST00000397771.6:c.81+3107A>G|||||||rs111907377||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||1/4|ENST00000412689.5:n.98+3107A>G|||||||rs111907377||-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||3/7|ENST00000431535.5:c.81+3107A>G|||||||rs111907377||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.329+3107A>G|||||||rs111907377||-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||3/4|ENST00000453160.5:c.*58-3358A>G|||||||rs111907377||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||3/4|ENST00000454854.5:c.82-1538A>G|||||||rs111907377||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||2/20|ENST00000458594.5:c.82-1538A>G|||||||rs111907377||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||3/4|ENST00000460313.1:n.312+3107A>G|||||||rs111907377||-1||HGNC|HGNC:24103|2||||||||Ensembl||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||1/1|ENST00000462454.1:n.336+3107A>G|||||||rs111907377||-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29829138T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs111907377|3780|-1||HGNC|HGNC:24103|2||||||||Ensembl||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||3/5|ENST00000465667.6:n.223+3107A>G|||||||rs111907377||-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29829138T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs111907377|3007|-1||HGNC|HGNC:24103|4||||||||Ensembl||T|T||||chr22:g.29829138T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||||||||||rs111907377|4948|-1||HGNC|HGNC:24103|2||||||||Ensembl||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||2/3|ENST00000495681.5:n.207-3358A>G|||||||rs111907377||-1||HGNC|HGNC:24103|5||||||||Ensembl||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.98-3881A>G|||||||rs111907377||-1||HGNC|HGNC:24103|4||||||||Ensembl||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||2/18|ENST00000542393.5:c.81+3107A>G|||||||rs111907377||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||2/18|NM_001242906.2:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||2/19|NM_001369920.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||4/21|NM_001369921.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||3/20|NM_001369922.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||3/20|NM_001369923.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||2/19|NM_001369924.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||2/18|NM_001369925.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||3/19|NM_001369926.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||2/18|NM_001369927.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||4/20|NM_001369928.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||2/18|NM_001369929.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||2/17|NM_001369930.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||4/22|NM_001369931.1:c.-385-1538A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||2/20|NM_001369932.1:c.-385-1538A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||2/19|NM_001369933.1:c.-261-3358A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-261-3358A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||2/20|NM_001369935.1:c.-385-1538A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-102-3881A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||2/18|NM_001369937.1:c.-102-3881A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||3/20|NM_001369938.1:c.-189+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-188-3431A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-385-1538A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-261-3358A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-123-6674A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-497-3358A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-168+5351A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-749-3358A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||3/20|NM_001369946.1:c.-621-1538A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-338-3881A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||2/20|NM_001369948.1:c.-750+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-590-3881A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-290+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||2/19|NM_032204.5:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||3/20|XM_011530442.4:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||4/21|XM_011530443.3:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||4/21|XM_011530444.3:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||3/20|XM_011530445.3:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||3/19|XM_011530448.3:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||2/20|XM_011530453.3:c.-385-1538A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||2/19|XM_011530454.3:c.-261-3358A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-261-3358A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||1/18|XM_024452287.2:c.243+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||1/17|XM_024452288.2:c.243+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||1/17|XM_024452289.2:c.243+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||1/17|XM_024452290.2:c.243+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||1/17|XM_024452291.2:c.243+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||1/18|XM_047441538.1:c.243+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||2/19|XM_047441539.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||4/21|XM_047441540.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||2/18|XM_047441541.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||1/16|XM_047441542.1:c.243+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||3/19|XM_047441543.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||4/20|XM_047441544.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||2/18|XM_047441545.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||3/19|XM_047441546.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||3/19|XM_047441547.1:c.81+3107A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-261-3358A>G|||||||rs111907377||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||T|T||||chr22:g.29829138T>C|||1||||||||||;SpliceAI=C|ASCC2|0.00|0.00|0.00|0.00|-40|-2|34|10;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19671;gnomADv4_1_AC_joint_XX=9923;gnomADv4_1_AC_joint_XY=9748;gnomADv4_1_AF_grpmax_joint=0.241608;gnomADv4_1_AF_joint=0.129314;gnomADv4_1_AF_joint_XX=0.12763;gnomADv4_1_AF_joint_XY=0.131074;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1477;gnomADv4_1_nhomalt_joint_XX=758;gnomADv4_1_nhomalt_joint_XY=719;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29829631 chr22_29829631_G_A G A 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.051;CADD_Rawscore=-0.793425;CSQ=A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||2/19|ENST00000307790.8:c.81+2614C>T|||||||rs5997535||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||3/20|ENST00000397771.6:c.81+2614C>T|||||||rs5997535||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||1/4|ENST00000412689.5:n.98+2614C>T|||||||rs5997535||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||3/7|ENST00000431535.5:c.81+2614C>T|||||||rs5997535||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.329+2614C>T|||||||rs5997535||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||3/4|ENST00000453160.5:c.*58-3851C>T|||||||rs5997535||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||3/4|ENST00000454854.5:c.82-2031C>T|||||||rs5997535||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||2/20|ENST00000458594.5:c.82-2031C>T|||||||rs5997535||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||3/4|ENST00000460313.1:n.312+2614C>T|||||||rs5997535||-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||1/1|ENST00000462454.1:n.336+2614C>T|||||||rs5997535||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29829631G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000463203|retained_intron||||||||||rs5997535|4273|-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||3/5|ENST00000465667.6:n.223+2614C>T|||||||rs5997535||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29829631G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs5997535|3500|-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29829631G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||||||||||rs5997535|4455|-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||2/3|ENST00000495681.5:n.207-3851C>T|||||||rs5997535||-1||HGNC|HGNC:24103|5||||||||Ensembl||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.98-4374C>T|||||||rs5997535||-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||2/18|ENST00000542393.5:c.81+2614C>T|||||||rs5997535||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||2/18|NM_001242906.2:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||2/19|NM_001369920.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||4/21|NM_001369921.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||3/20|NM_001369922.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||3/20|NM_001369923.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||2/19|NM_001369924.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||2/18|NM_001369925.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||3/19|NM_001369926.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||2/18|NM_001369927.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||4/20|NM_001369928.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||2/18|NM_001369929.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||2/17|NM_001369930.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||4/22|NM_001369931.1:c.-385-2031C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||2/20|NM_001369932.1:c.-385-2031C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||2/19|NM_001369933.1:c.-261-3851C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-261-3851C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||2/20|NM_001369935.1:c.-385-2031C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-102-4374C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||2/18|NM_001369937.1:c.-102-4374C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||3/20|NM_001369938.1:c.-189+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-188-3924C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-385-2031C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-261-3851C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-123-7167C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-497-3851C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-168+4858C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-749-3851C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||3/20|NM_001369946.1:c.-621-2031C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-338-4374C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||2/20|NM_001369948.1:c.-750+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-590-4374C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-290+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||2/19|NM_032204.5:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||3/20|XM_011530442.4:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||4/21|XM_011530443.3:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||4/21|XM_011530444.3:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||3/20|XM_011530445.3:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||3/19|XM_011530448.3:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||2/20|XM_011530453.3:c.-385-2031C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||2/19|XM_011530454.3:c.-261-3851C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-261-3851C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||1/18|XM_024452287.2:c.243+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||1/17|XM_024452288.2:c.243+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||1/17|XM_024452289.2:c.243+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||1/17|XM_024452290.2:c.243+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||1/17|XM_024452291.2:c.243+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||1/18|XM_047441538.1:c.243+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||2/19|XM_047441539.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||4/21|XM_047441540.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||2/18|XM_047441541.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||1/16|XM_047441542.1:c.243+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||3/19|XM_047441543.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||4/20|XM_047441544.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||2/18|XM_047441545.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||3/19|XM_047441546.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||3/19|XM_047441547.1:c.81+2614C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-261-3851C>T|||||||rs5997535||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||G|G||||chr22:g.29829631G>A|||||||||||||;SpliceAI=A|ASCC2|0.00|0.00|0.00|0.00|28|40|-9|-41;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000463203,ENST00000465667,ENST00000477074,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49615;gnomADv4_1_AC_joint_XX=25894;gnomADv4_1_AC_joint_XY=23721;gnomADv4_1_AF_grpmax_joint=0.583268;gnomADv4_1_AF_joint=0.327215;gnomADv4_1_AF_joint_XX=0.333832;gnomADv4_1_AF_joint_XY=0.320286;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151628;gnomADv4_1_AN_joint_XX=77566;gnomADv4_1_AN_joint_XY=74062;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8836;gnomADv4_1_nhomalt_joint_XX=4728;gnomADv4_1_nhomalt_joint_XY=4108;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29830578 chr22_29830578_A_AG A AG 49 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=1.878;CADDIndel_Rawscore=0.147252;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||2/19|ENST00000307790.8:c.81+1666dup|||||||rs11430192||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||3/20|ENST00000397771.6:c.81+1666dup|||||||rs11430192||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||1/4|ENST00000412689.5:n.98+1666dup|||||||rs11430192||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||3/7|ENST00000431535.5:c.81+1666dup|||||||rs11430192||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||4/6|ENST00000449900.6:n.329+1666dup|||||||rs11430192||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||3/4|ENST00000453160.5:c.*57+2962dup|||||||rs11430192||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||3/4|ENST00000454854.5:c.81+1666dup|||||||rs11430192||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||2/20|ENST00000458594.5:c.81+1666dup|||||||rs11430192||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||3/4|ENST00000460313.1:n.312+1666dup|||||||rs11430192||-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||1/1|ENST00000462454.1:n.336+1666dup|||||||rs11430192||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||3/5|ENST00000465667.6:n.223+1666dup|||||||rs11430192||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29830579dup|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000477074|retained_intron||||||||||rs11430192|4447|-1||HGNC|HGNC:24103|4||||||||Ensembl|||||||chr22:g.29830579dup|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||||||||||rs11430192|3507|-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||2/3|ENST00000495681.5:n.206+3863dup|||||||rs11430192||-1||HGNC|HGNC:24103|5||||||||Ensembl|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.98-5322dup|||||||rs11430192||-1||HGNC|HGNC:24103|4||||||||Ensembl|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||2/18|ENST00000542393.5:c.81+1666dup|||||||rs11430192||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||2/18|NM_001242906.2:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||2/19|NM_001369920.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||4/21|NM_001369921.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||3/20|NM_001369922.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||3/20|NM_001369923.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||2/19|NM_001369924.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||2/18|NM_001369925.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||3/19|NM_001369926.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||2/18|NM_001369927.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||4/20|NM_001369928.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||2/18|NM_001369929.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||2/17|NM_001369930.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||4/22|NM_001369931.1:c.-386+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||2/20|NM_001369932.1:c.-385-2979dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||2/19|NM_001369933.1:c.-262+3910dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-261-4799dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||2/20|NM_001369935.1:c.-386+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-102-5322dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||2/18|NM_001369937.1:c.-103+3910dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||3/20|NM_001369938.1:c.-189+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-188-4872dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-385-2979dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-261-4799dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-124+7599dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-497-4799dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-168+3910dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-749-4799dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||3/20|NM_001369946.1:c.-622+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-338-5322dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||2/20|NM_001369948.1:c.-750+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-590-5322dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||2/17|NM_001369950.1:c.-290+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||2/19|NM_032204.5:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||3/20|XM_011530442.4:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||4/21|XM_011530443.3:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||4/21|XM_011530444.3:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||3/20|XM_011530445.3:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||3/19|XM_011530448.3:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||2/20|XM_011530453.3:c.-385-2979dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||2/19|XM_011530454.3:c.-262+3910dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-261-4799dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||1/18|XM_024452287.2:c.243+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||1/17|XM_024452288.2:c.243+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||1/17|XM_024452289.2:c.243+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||1/17|XM_024452290.2:c.243+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||1/17|XM_024452291.2:c.243+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||1/18|XM_047441538.1:c.243+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||2/19|XM_047441539.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||4/21|XM_047441540.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||2/18|XM_047441541.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||1/16|XM_047441542.1:c.243+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||3/19|XM_047441543.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||4/20|XM_047441544.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||2/18|XM_047441545.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||3/19|XM_047441546.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||3/19|XM_047441547.1:c.81+1666dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-261-4799dup|||||||rs11430192||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq|||||||chr22:g.29830579dup|||||||||||||;SpliceAI=AG|ASCC2|0.00|0.00|0.00|0.00|12|21|21|17;TYPE=INDEL;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000465667,ENST00000477074,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152327;gnomADv4_1_AC_joint_XX=77850;gnomADv4_1_AC_joint_XY=74477;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999993;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=0.999987;gnomADv4_1_AN_grpmax_joint=68028;gnomADv4_1_AN_joint=152328;gnomADv4_1_AN_joint_XX=77850;gnomADv4_1_AN_joint_XY=74478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76163;gnomADv4_1_nhomalt_joint_XX=38925;gnomADv4_1_nhomalt_joint_XY=37238;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29832728 chr22_29832728_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.138;CADD_Rawscore=0.181612;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||1/19|ENST00000307790.8:c.-17-386T>C|||||||rs4823055||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||2/20|ENST00000397771.6:c.-17-386T>C|||||||rs4823055||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29832728A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs4823055|386|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||2/7|ENST00000431535.5:c.-17-386T>C|||||||rs4823055||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||3/6|ENST00000449900.6:n.232-386T>C|||||||rs4823055||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||3/4|ENST00000453160.5:c.*57+813T>C|||||||rs4823055||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||2/4|ENST00000454854.5:c.-17-386T>C|||||||rs4823055||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||1/20|ENST00000458594.5:c.-17-386T>C|||||||rs4823055||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||2/4|ENST00000460313.1:n.215-386T>C|||||||rs4823055||-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29832728A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs4823055|148|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||2/5|ENST00000465667.6:n.126-386T>C|||||||rs4823055||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29832728A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||||||||||rs4823055|1358|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||2/3|ENST00000495681.5:n.206+1714T>C|||||||rs4823055||-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.97+5450T>C|||||||rs4823055||-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||1/18|ENST00000542393.5:c.-17-386T>C|||||||rs4823055||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||1/18|NM_001242906.2:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||1/19|NM_001369920.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||3/21|NM_001369921.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||2/20|NM_001369922.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||2/20|NM_001369923.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||1/19|NM_001369924.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||1/18|NM_001369925.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||2/19|NM_001369926.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||1/18|NM_001369927.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||3/20|NM_001369928.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||1/18|NM_001369929.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||1/17|NM_001369930.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||3/22|NM_001369931.1:c.-483-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||2/20|NM_001369932.1:c.-386+1761T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||2/19|NM_001369933.1:c.-262+1761T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-262+5450T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||1/20|NM_001369935.1:c.-483-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-103+5450T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||2/18|NM_001369937.1:c.-103+1761T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||2/20|NM_001369938.1:c.-286-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-189+5450T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-385-5128T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-262+5450T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-124+5450T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-498+5450T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-168+1761T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-750+5450T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||2/20|NM_001369946.1:c.-719-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-339+5450T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||1/20|NM_001369948.1:c.-847-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-591+5450T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||1/17|NM_001369950.1:c.-387-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||1/19|NM_032204.5:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||2/20|XM_011530442.4:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||3/21|XM_011530443.3:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||3/21|XM_011530444.3:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||2/20|XM_011530445.3:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||2/19|XM_011530448.3:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||2/20|XM_011530453.3:c.-386+1761T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||2/19|XM_011530454.3:c.-262+1761T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-262+5450T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding|1/19||XM_024452287.2:c.-241T>C||807|||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||0|0|10||,G|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding|1/18||XM_024452288.2:c.-241T>C||807|||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||0|0|10||,G|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding|1/18||XM_024452289.2:c.-241T>C||806|||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||0|0|10||,G|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding|1/18||XM_024452290.2:c.-241T>C||807|||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||0|0|10||,G|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding|1/18||XM_024452291.2:c.-241T>C||806|||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||0|0|10||,G|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding|1/19||XM_047441538.1:c.-241T>C||806|||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||0|0|10||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||1/19|XM_047441539.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||3/21|XM_047441540.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||1/18|XM_047441541.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding|1/17||XM_047441542.1:c.-241T>C||807|||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||0|0|10||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||2/19|XM_047441543.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||3/20|XM_047441544.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||1/18|XM_047441545.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||2/19|XM_047441546.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||2/19|XM_047441547.1:c.-17-386T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-262+5450T>C|||||||rs4823055||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29832728A>G|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|20|-6|37|9;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,0,0,0,0,0,.,.,.,0,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,0,0,0,0,0,.,.,.,0,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,10,10,10,10,10,10,.,.,.,10,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=126870;gnomADv4_1_AC_joint_XX=64620;gnomADv4_1_AC_joint_XY=62250;gnomADv4_1_AF_grpmax_joint=0.933861;gnomADv4_1_AF_joint=0.783458;gnomADv4_1_AF_joint_XX=0.786151;gnomADv4_1_AF_joint_XY=0.780682;gnomADv4_1_AN_grpmax_joint=41352;gnomADv4_1_AN_joint=161936;gnomADv4_1_AN_joint_XX=82198;gnomADv4_1_AN_joint_XY=79738;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=50557;gnomADv4_1_nhomalt_joint_XX=25898;gnomADv4_1_nhomalt_joint_XY=24659;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29833410 chr22_29833410_C_G C G 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=8.049;CADD_Rawscore=0.774193;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||1/19|ENST00000307790.8:c.-17-1068G>C|||||||rs3958025||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||2/20|ENST00000397771.6:c.-17-1068G>C|||||||rs3958025||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29833410C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs3958025|1068|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||2/7|ENST00000431535.5:c.-18+131G>C|||||||rs3958025||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||3/6|ENST00000449900.6:n.231+131G>C|||||||rs3958025||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||3/4|ENST00000453160.5:c.*57+131G>C|||||||rs3958025||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||2/4|ENST00000454854.5:c.-17-1068G>C|||||||rs3958025||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||1/20|ENST00000458594.5:c.-17-1068G>C|||||||rs3958025||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||2/4|ENST00000460313.1:n.214+1032G>C|||||||rs3958025||-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29833410C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs3958025|830|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||2/5|ENST00000465667.6:n.125+131G>C|||||||rs3958025||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29833410C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||||||||||rs3958025|676|-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||2/3|ENST00000495681.5:n.206+1032G>C|||||||rs3958025||-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.97+4768G>C|||||||rs3958025||-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||1/18|ENST00000542393.5:c.-17-1068G>C|||||||rs3958025||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||1/18|NM_001242906.2:c.-17-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||1/19|NM_001369920.1:c.-17-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||3/21|NM_001369921.1:c.-18+131G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||2/20|NM_001369922.1:c.-18+1032G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||2/20|NM_001369923.1:c.-17-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||1/19|NM_001369924.1:c.-17-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||1/18|NM_001369925.1:c.-17-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||2/19|NM_001369926.1:c.-17-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||1/18|NM_001369927.1:c.-17-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||3/20|NM_001369928.1:c.-18+131G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||1/18|NM_001369929.1:c.-17-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||1/17|NM_001369930.1:c.-17-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||3/22|NM_001369931.1:c.-484+131G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||2/20|NM_001369932.1:c.-386+1079G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||2/19|NM_001369933.1:c.-262+1079G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-262+4768G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||1/20|NM_001369935.1:c.-483-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-103+4768G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||2/18|NM_001369937.1:c.-103+1079G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||2/20|NM_001369938.1:c.-286-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-189+4768G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-386+4768G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-262+4768G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-124+4768G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-498+4768G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-168+1079G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-750+4768G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||2/20|NM_001369946.1:c.-719-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-339+4768G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||1/20|NM_001369948.1:c.-847-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-591+4768G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||1/17|NM_001369950.1:c.-387-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||1/19|NM_032204.5:c.-17-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||2/20|XM_011530442.4:c.-17-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||3/21|XM_011530443.3:c.-18+131G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||3/21|XM_011530444.3:c.-18+131G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||2/20|XM_011530445.3:c.-18+1032G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||2/19|XM_011530448.3:c.-17-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||2/20|XM_011530453.3:c.-386+1079G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||2/19|XM_011530454.3:c.-262+1079G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-262+4768G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding|1/19||XM_024452287.2:c.-923G>C||125|||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||0|0|10||,G|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding|1/18||XM_024452288.2:c.-923G>C||125|||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||0|0|10||,G|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding|1/18||XM_024452289.2:c.-923G>C||124|||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||0|0|10||,G|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding|1/18||XM_024452290.2:c.-923G>C||125|||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||0|0|10||,G|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding|1/18||XM_024452291.2:c.-923G>C||124|||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||0|0|10||,G|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding|1/19||XM_047441538.1:c.-923G>C||124|||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||0|0|10||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||1/19|XM_047441539.1:c.-18+131G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||3/21|XM_047441540.1:c.-18+131G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||1/18|XM_047441541.1:c.-17-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding|1/17||XM_047441542.1:c.-923G>C||125|||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||0|0|10||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||2/19|XM_047441543.1:c.-17-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||3/20|XM_047441544.1:c.-18+131G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||1/18|XM_047441545.1:c.-17-1068G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||2/19|XM_047441546.1:c.-18+1032G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||2/19|XM_047441547.1:c.-18+1032G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-262+4768G>C|||||||rs3958025||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29833410C>G|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|-32|-37|6|-40;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,0,0,0,0,0,.,.,.,0,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,0,0,0,0,0,.,.,.,0,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,10,10,10,10,10,10,.,.,.,10,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=260930;gnomADv4_1_AC_joint_XX=122920;gnomADv4_1_AC_joint_XY=138010;gnomADv4_1_AF_grpmax_joint=0.92316;gnomADv4_1_AF_joint=0.749807;gnomADv4_1_AF_joint_XX=0.749211;gnomADv4_1_AF_joint_XY=0.75034;gnomADv4_1_AN_grpmax_joint=12012;gnomADv4_1_AN_joint=347996;gnomADv4_1_AN_joint_XX=164066;gnomADv4_1_AN_joint_XY=183930;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=98887;gnomADv4_1_nhomalt_joint_XX=46574;gnomADv4_1_nhomalt_joint_XY=52313;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29833879 chr22_29833879_C_CT C CT 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=34;CADDIndel_PHREDscore=0.45;CADDIndel_Rawscore=-0.219722;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||1/19|ENST00000307790.8:c.-17-1538dup|||||||rs539551425||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||2/20|ENST00000397771.6:c.-18+609dup|||||||rs539551425||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29833895dup|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs539551425|1537|-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||1/7|ENST00000431535.5:c.-91-266dup|||||||rs539551425||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||2/6|ENST00000449900.6:n.158-266dup|||||||rs539551425||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||2/4|ENST00000453160.5:c.147-266dup|||||||rs539551425||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||2/4|ENST00000454854.5:c.-17-1538dup|||||||rs539551425||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||1/20|ENST00000458594.5:c.-18+609dup|||||||rs539551425||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||2/4|ENST00000460313.1:n.214+562dup|||||||rs539551425||-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29833895dup|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs539551425|1299|-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||1/5|ENST00000465667.6:n.52-266dup|||||||rs539551425||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29833895dup|||||||||||||,T|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||||||||||rs539551425|206|-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||2/3|ENST00000495681.5:n.206+562dup|||||||rs539551425||-1||HGNC|HGNC:24103|5||||||||Ensembl|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.97+4298dup|||||||rs539551425||-1||HGNC|HGNC:24103|4||||||||Ensembl|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||1/18|ENST00000542393.5:c.-17-1538dup|||||||rs539551425||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||1/18|NM_001242906.2:c.-17-1538dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||1/19|NM_001369920.1:c.-17-1538dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||2/21|NM_001369921.1:c.-91-266dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||2/20|NM_001369922.1:c.-18+562dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||2/20|NM_001369923.1:c.-18+609dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||1/19|NM_001369924.1:c.-17-1538dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||1/18|NM_001369925.1:c.-17-1538dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||2/19|NM_001369926.1:c.-18+609dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||1/18|NM_001369927.1:c.-17-1538dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||2/20|NM_001369928.1:c.-91-266dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||1/18|NM_001369929.1:c.-17-1538dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||1/17|NM_001369930.1:c.-17-1538dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||2/22|NM_001369931.1:c.-557-266dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||2/20|NM_001369932.1:c.-386+609dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||2/19|NM_001369933.1:c.-262+609dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-262+4298dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||1/20|NM_001369935.1:c.-483-1538dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-103+4298dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||2/18|NM_001369937.1:c.-103+609dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||2/20|NM_001369938.1:c.-287+609dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-189+4298dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-386+4298dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-262+4298dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-124+4298dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-498+4298dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-168+609dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-750+4298dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||2/20|NM_001369946.1:c.-720+609dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-339+4298dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||1/20|NM_001369948.1:c.-847-1538dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-591+4298dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||1/17|NM_001369950.1:c.-387-1538dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||1/19|NM_032204.5:c.-17-1538dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||2/20|XM_011530442.4:c.-18+609dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||2/21|XM_011530443.3:c.-91-266dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||2/21|XM_011530444.3:c.-91-266dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||2/20|XM_011530445.3:c.-18+562dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||2/19|XM_011530448.3:c.-18+609dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||2/20|XM_011530453.3:c.-386+609dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||2/19|XM_011530454.3:c.-262+609dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-262+4298dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||||||||||rs539551425|345|-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||||||||||rs539551425|345|-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||||||||||rs539551425|346|-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||||||||||rs539551425|345|-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||||||||||rs539551425|346|-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||||||||||rs539551425|346|-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding|1/20||XM_047441539.1:c.-357dup||555-556|||||rs539551425||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||0|0|12|uFrameShift_Evidence:False&uFrameShift_KozakContext:AACATGG&uFrameShift_KozakStrength:Strong&uFrameShift_alt_type:uORF&uFrameShift_alt_type_length:105&uFrameShift_ref_StartDistanceToCDS:395&uFrameShift_ref_type:uORF&uFrameShift_ref_type_length:150|uFrameShift,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||2/21|XM_047441540.1:c.-91-266dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||1/18|XM_047441541.1:c.-17-1538dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||||||||||rs539551425|345|-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||2/19|XM_047441543.1:c.-18+609dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||2/20|XM_047441544.1:c.-91-266dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||1/18|XM_047441545.1:c.-17-1538dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||2/19|XM_047441546.1:c.-18+562dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||2/19|XM_047441547.1:c.-18+562dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-262+4298dup|||||||rs539551425||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq|||||||chr22:g.29833895dup|||||||||||||;SpliceAI=CT|ASCC2|0.00|0.00|0.00|0.00|-41|-1|37|40;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,uFrameShift_Evidence:False&uFrameShift_KozakContext:AACATGG&uFrameShift_KozakStrength:Strong&uFrameShift_alt_type:uORF&uFrameShift_alt_type_length:105&uFrameShift_ref_StartDistanceToCDS:395&uFrameShift_ref_type:uORF&uFrameShift_ref_type_length:150,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,uFrameShift,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48560;gnomADv4_1_AC_joint_XX=25852;gnomADv4_1_AC_joint_XY=22708;gnomADv4_1_AF_grpmax_joint=0.574759;gnomADv4_1_AF_joint=0.34807;gnomADv4_1_AF_joint_XX=0.356944;gnomADv4_1_AF_joint_XY=0.338491;gnomADv4_1_AN_grpmax_joint=4762;gnomADv4_1_AN_joint=139512;gnomADv4_1_AN_joint_XX=72426;gnomADv4_1_AN_joint_XY=67086;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9603;gnomADv4_1_nhomalt_joint_XX=5293;gnomADv4_1_nhomalt_joint_XY=4310;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29833965 chr22_29833965_T_C T C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.554;CADD_Rawscore=0.09732;CSQ=C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||1/19|ENST00000307790.8:c.-17-1623A>G|||||||rs1138120||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||2/20|ENST00000397771.6:c.-18+524A>G|||||||rs1138120||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29833965T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs1138120|1623|-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||1/7|ENST00000431535.5:c.-91-351A>G|||||||rs1138120||-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||2/6|ENST00000449900.6:n.158-351A>G|||||||rs1138120||-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||2/4|ENST00000453160.5:c.147-351A>G|||||||rs1138120||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||2/4|ENST00000454854.5:c.-17-1623A>G|||||||rs1138120||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||1/20|ENST00000458594.5:c.-18+524A>G|||||||rs1138120||-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||2/4|ENST00000460313.1:n.214+477A>G|||||||rs1138120||-1||HGNC|HGNC:24103|2||||||||Ensembl||T|T||||chr22:g.29833965T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs1138120|1385|-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||1/5|ENST00000465667.6:n.52-351A>G|||||||rs1138120||-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29833965T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||||||||||rs1138120|121|-1||HGNC|HGNC:24103|2||||||||Ensembl||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||2/3|ENST00000495681.5:n.206+477A>G|||||||rs1138120||-1||HGNC|HGNC:24103|5||||||||Ensembl||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.97+4213A>G|||||||rs1138120||-1||HGNC|HGNC:24103|4||||||||Ensembl||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||1/18|ENST00000542393.5:c.-17-1623A>G|||||||rs1138120||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||1/18|NM_001242906.2:c.-17-1623A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||1/19|NM_001369920.1:c.-17-1623A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||2/21|NM_001369921.1:c.-91-351A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||2/20|NM_001369922.1:c.-18+477A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||2/20|NM_001369923.1:c.-18+524A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||1/19|NM_001369924.1:c.-17-1623A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||1/18|NM_001369925.1:c.-17-1623A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||2/19|NM_001369926.1:c.-18+524A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||1/18|NM_001369927.1:c.-17-1623A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||2/20|NM_001369928.1:c.-91-351A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||1/18|NM_001369929.1:c.-17-1623A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||1/17|NM_001369930.1:c.-17-1623A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||2/22|NM_001369931.1:c.-557-351A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||2/20|NM_001369932.1:c.-386+524A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||2/19|NM_001369933.1:c.-262+524A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-262+4213A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||1/20|NM_001369935.1:c.-483-1623A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-103+4213A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||2/18|NM_001369937.1:c.-103+524A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||2/20|NM_001369938.1:c.-287+524A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-189+4213A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-386+4213A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-262+4213A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-124+4213A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-498+4213A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||2/16|NM_001369944.1:c.-168+524A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-750+4213A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||2/20|NM_001369946.1:c.-720+524A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-339+4213A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||1/20|NM_001369948.1:c.-847-1623A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-591+4213A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||1/17|NM_001369950.1:c.-387-1623A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||1/19|NM_032204.5:c.-17-1623A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||2/20|XM_011530442.4:c.-18+524A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||2/21|XM_011530443.3:c.-91-351A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||2/21|XM_011530444.3:c.-91-351A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||2/20|XM_011530445.3:c.-18+477A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||2/19|XM_011530448.3:c.-18+524A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||2/20|XM_011530453.3:c.-386+524A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||2/19|XM_011530454.3:c.-262+524A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-262+4213A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||||||||||rs1138120|431|-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||||||||||rs1138120|431|-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||||||||||rs1138120|432|-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||||||||||rs1138120|431|-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||||||||||rs1138120|432|-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||||||||||rs1138120|432|-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding|1/20||XM_047441539.1:c.-442A>G||470|||||rs1138120||-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||0|0|12|uAUG_lost_CapDistanceToStart:469&uAUG_lost_DistanceToCDS:442&uAUG_lost_DistanceToStop:51&uAUG_lost_Evidence:False&uAUG_lost_KozakContext:AAGATGG&uAUG_lost_KozakStrength:Strong&uAUG_lost_type:uORF|uAUG_lost,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||2/21|XM_047441540.1:c.-91-351A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||1/18|XM_047441541.1:c.-17-1623A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||||||||||rs1138120|431|-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||2/19|XM_047441543.1:c.-18+524A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||2/20|XM_047441544.1:c.-91-351A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||1/18|XM_047441545.1:c.-17-1623A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||2/19|XM_047441546.1:c.-18+477A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||2/19|XM_047441547.1:c.-18+477A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-262+4213A>G|||||||rs1138120||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||T|T||||chr22:g.29833965T>C|||||||||||||;SpliceAI=C|ASCC2|0.00|0.00|0.00|0.00|1|17|1|-49;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,uAUG_lost_CapDistanceToStart:469&uAUG_lost_DistanceToCDS:442&uAUG_lost_DistanceToStop:51&uAUG_lost_Evidence:False&uAUG_lost_KozakContext:AAGATGG&uAUG_lost_KozakStrength:Strong&uAUG_lost_type:uORF,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,uAUG_lost,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=51338;gnomADv4_1_AC_joint_XX=26423;gnomADv4_1_AC_joint_XY=24915;gnomADv4_1_AF_grpmax_joint=0.586552;gnomADv4_1_AF_joint=0.293125;gnomADv4_1_AF_joint_XX=0.299948;gnomADv4_1_AF_joint_XY=0.286221;gnomADv4_1_AN_grpmax_joint=5592;gnomADv4_1_AN_joint=175140;gnomADv4_1_AN_joint_XX=88092;gnomADv4_1_AN_joint_XY=87048;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8838;gnomADv4_1_nhomalt_joint_XX=4689;gnomADv4_1_nhomalt_joint_XY=4149;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29836648 chr22_29836648_T_C T C 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.434;CADD_Rawscore=0.076232;CSQ=C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||1/19|ENST00000307790.8:c.-18+1530A>G|||||||rs5763529||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||1/20|ENST00000397771.6:c.-80+1530A>G|||||||rs5763529||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29836648T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs5763529|4306|-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29836648T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||||||||||rs5763529|2098|-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||1/6|ENST00000449900.6:n.95+1530A>G|||||||rs5763529||-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||1/4|ENST00000453160.5:c.84+1530A>G|||||||rs5763529||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||1/4|ENST00000454854.5:c.-80-148A>G|||||||rs5763529||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||T|T||||chr22:g.29836648T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||||||||||rs5763529|2098|-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||1/4|ENST00000460313.1:n.105+1530A>G|||||||rs5763529||-1||HGNC|HGNC:24103|2||||||||Ensembl||T|T||||chr22:g.29836648T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs5763529|4068|-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||1/5|ENST00000465667.6:n.51+1530A>G|||||||rs5763529||-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||1/1|ENST00000492821.1:n.97+1530A>G|||||||rs5763529||-1||HGNC|HGNC:24103|2||||||||Ensembl||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||1/3|ENST00000495681.5:n.97+1530A>G|||||||rs5763529||-1||HGNC|HGNC:24103|5||||||||Ensembl||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.97+1530A>G|||||||rs5763529||-1||HGNC|HGNC:24103|4||||||||Ensembl||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||1/18|ENST00000542393.5:c.-18+1530A>G|||||||rs5763529||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||1/18|NM_001242906.2:c.-18+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||1/19|NM_001369920.1:c.-18+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||1/21|NM_001369921.1:c.-154+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||1/20|NM_001369922.1:c.-127+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||1/20|NM_001369923.1:c.-80+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||1/19|NM_001369924.1:c.-18+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||1/18|NM_001369925.1:c.-18+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||1/19|NM_001369926.1:c.-80+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||1/18|NM_001369927.1:c.-18+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||1/20|NM_001369928.1:c.-154+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||1/18|NM_001369929.1:c.-18+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||1/17|NM_001369930.1:c.-18+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||1/22|NM_001369931.1:c.-620+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||1/20|NM_001369932.1:c.-448+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||1/19|NM_001369933.1:c.-324+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-262+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||1/20|NM_001369935.1:c.-484+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-103+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||1/18|NM_001369937.1:c.-165+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||1/20|NM_001369938.1:c.-349+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-189+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-386+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-262+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-124+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-498+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||1/16|NM_001369944.1:c.-230+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-750+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||1/20|NM_001369946.1:c.-782+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-339+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||1/20|NM_001369948.1:c.-848+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-591+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||1/17|NM_001369950.1:c.-388+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||1/19|NM_032204.5:c.-18+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||1/20|XM_011530442.4:c.-80+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||1/21|XM_011530443.3:c.-154+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||1/21|XM_011530444.3:c.-201+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||1/20|XM_011530445.3:c.-127+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||1/19|XM_011530448.3:c.-80+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||1/20|XM_011530453.3:c.-448+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||1/19|XM_011530454.3:c.-324+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-262+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||||||||||rs5763529|3114|-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||||||||||rs5763529|3114|-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||||||||||rs5763529|3115|-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||||||||||rs5763529|3114|-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||||||||||rs5763529|3115|-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||||||||||rs5763529|3115|-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||||||||||rs5763529|2214|-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||1/21|XM_047441540.1:c.-201+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||1/18|XM_047441541.1:c.-18+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||||||||||rs5763529|3114|-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||1/19|XM_047441543.1:c.-80+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||1/20|XM_047441544.1:c.-154+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||1/18|XM_047441545.1:c.-18+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||1/19|XM_047441546.1:c.-127+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||1/19|XM_047441547.1:c.-127+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||,C|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-262+1530A>G|||||||rs5763529||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||T|T||||chr22:g.29836648T>C|||||||||||||;SpliceAI=C|ASCC2|0.00|0.00|0.00|0.00|-42|43|5|-5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=136605;gnomADv4_1_AC_joint_XX=69367;gnomADv4_1_AC_joint_XY=67238;gnomADv4_1_AF_grpmax_joint=0.999016;gnomADv4_1_AF_joint=0.898292;gnomADv4_1_AF_joint_XX=0.892272;gnomADv4_1_AF_joint_XY=0.904588;gnomADv4_1_AN_grpmax_joint=5082;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=61682;gnomADv4_1_nhomalt_joint_XX=31120;gnomADv4_1_nhomalt_joint_XY=30562;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29836854 chr22_29836854_C_T C T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=6.921;CADD_Rawscore=0.649579;CSQ=T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||1/19|ENST00000307790.8:c.-18+1324G>A|||||||rs6006274||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||1/20|ENST00000397771.6:c.-80+1324G>A|||||||rs6006274||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29836854C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs6006274|4512|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29836854C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||||||||||rs6006274|2304|-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||1/6|ENST00000449900.6:n.95+1324G>A|||||||rs6006274||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||1/4|ENST00000453160.5:c.84+1324G>A|||||||rs6006274||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||1/4|ENST00000454854.5:c.-80-354G>A|||||||rs6006274||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29836854C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||||||||||rs6006274|2304|-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||1/4|ENST00000460313.1:n.105+1324G>A|||||||rs6006274||-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29836854C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs6006274|4274|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||1/5|ENST00000465667.6:n.51+1324G>A|||||||rs6006274||-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||1/1|ENST00000492821.1:n.97+1324G>A|||||||rs6006274||-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||1/3|ENST00000495681.5:n.97+1324G>A|||||||rs6006274||-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.97+1324G>A|||||||rs6006274||-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||1/18|ENST00000542393.5:c.-18+1324G>A|||||||rs6006274||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||1/18|NM_001242906.2:c.-18+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||1/19|NM_001369920.1:c.-18+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||1/21|NM_001369921.1:c.-154+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||1/20|NM_001369922.1:c.-127+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||1/20|NM_001369923.1:c.-80+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||1/19|NM_001369924.1:c.-18+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||1/18|NM_001369925.1:c.-18+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||1/19|NM_001369926.1:c.-80+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||1/18|NM_001369927.1:c.-18+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||1/20|NM_001369928.1:c.-154+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||1/18|NM_001369929.1:c.-18+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||1/17|NM_001369930.1:c.-18+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||1/22|NM_001369931.1:c.-620+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||1/20|NM_001369932.1:c.-448+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||1/19|NM_001369933.1:c.-324+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-262+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||1/20|NM_001369935.1:c.-484+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-103+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||1/18|NM_001369937.1:c.-165+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||1/20|NM_001369938.1:c.-349+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-189+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-386+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-262+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-124+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-498+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||1/16|NM_001369944.1:c.-230+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-750+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||1/20|NM_001369946.1:c.-782+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-339+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||1/20|NM_001369948.1:c.-848+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-591+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||1/17|NM_001369950.1:c.-388+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||1/19|NM_032204.5:c.-18+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||1/20|XM_011530442.4:c.-80+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||1/21|XM_011530443.3:c.-154+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||1/21|XM_011530444.3:c.-201+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||1/20|XM_011530445.3:c.-127+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||1/19|XM_011530448.3:c.-80+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||1/20|XM_011530453.3:c.-448+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||1/19|XM_011530454.3:c.-324+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-262+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||||||||||rs6006274|3320|-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||||||||||rs6006274|3320|-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||||||||||rs6006274|3321|-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||||||||||rs6006274|3320|-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||||||||||rs6006274|3321|-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||||||||||rs6006274|3321|-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||||||||||rs6006274|2420|-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||1/21|XM_047441540.1:c.-201+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||1/18|XM_047441541.1:c.-18+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||||||||||rs6006274|3320|-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||1/19|XM_047441543.1:c.-80+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||1/20|XM_047441544.1:c.-154+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||1/18|XM_047441545.1:c.-18+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||1/19|XM_047441546.1:c.-127+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||1/19|XM_047441547.1:c.-127+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||,T|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-262+1324G>A|||||||rs6006274||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29836854C>T|||||||||||||;SpliceAI=T|ASCC2|0.00|0.00|0.00|0.00|-36|16|17|16;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46644;gnomADv4_1_AC_joint_XX=24259;gnomADv4_1_AC_joint_XY=22385;gnomADv4_1_AF_grpmax_joint=0.584337;gnomADv4_1_AF_joint=0.306614;gnomADv4_1_AF_joint_XX=0.311925;gnomADv4_1_AF_joint_XY=0.30106;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=152126;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8347;gnomADv4_1_nhomalt_joint_XX=4455;gnomADv4_1_nhomalt_joint_XY=3892;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29837267 chr22_29837267_GA_G GA G 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=1.358;CADDIndel_Rawscore=0.061948;CSQ=-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||1/19|ENST00000307790.8:c.-18+910del|||||||rs34319037||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||1/20|ENST00000397771.6:c.-80+910del|||||||rs34319037||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29837283del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000412689|protein_coding_CDS_not_defined||||||||||rs34319037|4926|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29837283del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||||||||||rs34319037|2718|-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||1/6|ENST00000449900.6:n.95+910del|||||||rs34319037||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||1/4|ENST00000453160.5:c.84+910del|||||||rs34319037||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||1/4|ENST00000454854.5:c.-80-768del|||||||rs34319037||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29837283del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||||||||||rs34319037|2718|-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||1/4|ENST00000460313.1:n.105+910del|||||||rs34319037||-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29837283del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs34319037|4688|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||1/5|ENST00000465667.6:n.51+910del|||||||rs34319037||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||1/1|ENST00000492821.1:n.97+910del|||||||rs34319037||-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||1/3|ENST00000495681.5:n.97+910del|||||||rs34319037||-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.97+910del|||||||rs34319037||-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||1/18|ENST00000542393.5:c.-18+910del|||||||rs34319037||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||1/18|NM_001242906.2:c.-18+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||1/19|NM_001369920.1:c.-18+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||1/21|NM_001369921.1:c.-154+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||1/20|NM_001369922.1:c.-127+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||1/20|NM_001369923.1:c.-80+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||1/19|NM_001369924.1:c.-18+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||1/18|NM_001369925.1:c.-18+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||1/19|NM_001369926.1:c.-80+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||1/18|NM_001369927.1:c.-18+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||1/20|NM_001369928.1:c.-154+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||1/18|NM_001369929.1:c.-18+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||1/17|NM_001369930.1:c.-18+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||1/22|NM_001369931.1:c.-620+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||1/20|NM_001369932.1:c.-448+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||1/19|NM_001369933.1:c.-324+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-262+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||1/20|NM_001369935.1:c.-484+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-103+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||1/18|NM_001369937.1:c.-165+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||1/20|NM_001369938.1:c.-349+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-189+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-386+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-262+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-124+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-498+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||1/16|NM_001369944.1:c.-230+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-750+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||1/20|NM_001369946.1:c.-782+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-339+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||1/20|NM_001369948.1:c.-848+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-591+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||1/17|NM_001369950.1:c.-388+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||1/19|NM_032204.5:c.-18+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||1/20|XM_011530442.4:c.-80+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||1/21|XM_011530443.3:c.-154+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||1/21|XM_011530444.3:c.-201+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||1/20|XM_011530445.3:c.-127+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||1/19|XM_011530448.3:c.-80+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||1/20|XM_011530453.3:c.-448+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||1/19|XM_011530454.3:c.-324+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-262+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||||||||||rs34319037|3734|-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||||||||||rs34319037|3734|-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||||||||||rs34319037|3735|-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||||||||||rs34319037|3734|-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||||||||||rs34319037|3735|-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||||||||||rs34319037|3735|-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||||||||||rs34319037|2834|-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||1/21|XM_047441540.1:c.-201+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||1/18|XM_047441541.1:c.-18+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||||||||||rs34319037|3734|-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||1/19|XM_047441543.1:c.-80+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||1/20|XM_047441544.1:c.-154+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||1/18|XM_047441545.1:c.-18+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||1/19|XM_047441546.1:c.-127+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||1/19|XM_047441547.1:c.-127+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-262+910del|||||||rs34319037||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29837283del|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|-8|-6|0|41;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000412689,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98605;gnomADv4_1_AC_joint_XX=51133;gnomADv4_1_AC_joint_XY=47472;gnomADv4_1_AF_grpmax_joint=0.893547;gnomADv4_1_AF_joint=0.685509;gnomADv4_1_AF_joint_XX=0.687604;gnomADv4_1_AF_joint_XY=0.683267;gnomADv4_1_AN_grpmax_joint=4866;gnomADv4_1_AN_joint=143842;gnomADv4_1_AN_joint_XX=74364;gnomADv4_1_AN_joint_XY=69478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=33898;gnomADv4_1_nhomalt_joint_XX=17690;gnomADv4_1_nhomalt_joint_XY=16208;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29837438 chr22_29837438_GA_G GA G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=0.552;CADDIndel_Rawscore=-0.168286;CSQ=-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||1/19|ENST00000307790.8:c.-18+739del|||||||rs57271738||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||1/20|ENST00000397771.6:c.-80+739del|||||||rs57271738||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29837444del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||||||||||rs57271738|2889|-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||1/6|ENST00000449900.6:n.95+739del|||||||rs57271738||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||1/4|ENST00000453160.5:c.84+739del|||||||rs57271738||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||1/4|ENST00000454854.5:c.-81+739del|||||||rs57271738||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29837444del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||||||||||rs57271738|2889|-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||1/4|ENST00000460313.1:n.105+739del|||||||rs57271738||-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29837444del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs57271738|4859|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||1/5|ENST00000465667.6:n.51+739del|||||||rs57271738||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||1/1|ENST00000492821.1:n.97+739del|||||||rs57271738||-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||1/3|ENST00000495681.5:n.97+739del|||||||rs57271738||-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.97+739del|||||||rs57271738||-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||1/18|ENST00000542393.5:c.-18+739del|||||||rs57271738||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||1/18|NM_001242906.2:c.-18+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||1/19|NM_001369920.1:c.-18+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||1/21|NM_001369921.1:c.-154+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||1/20|NM_001369922.1:c.-127+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||1/20|NM_001369923.1:c.-80+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||1/19|NM_001369924.1:c.-18+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||1/18|NM_001369925.1:c.-18+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||1/19|NM_001369926.1:c.-80+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||1/18|NM_001369927.1:c.-18+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||1/20|NM_001369928.1:c.-154+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||1/18|NM_001369929.1:c.-18+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||1/17|NM_001369930.1:c.-18+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||1/22|NM_001369931.1:c.-620+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||1/20|NM_001369932.1:c.-448+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||1/19|NM_001369933.1:c.-324+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-262+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||1/20|NM_001369935.1:c.-484+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-103+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||1/18|NM_001369937.1:c.-165+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||1/20|NM_001369938.1:c.-349+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-189+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-386+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-262+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-124+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-498+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||1/16|NM_001369944.1:c.-230+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-750+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||1/20|NM_001369946.1:c.-782+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-339+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||1/20|NM_001369948.1:c.-848+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-591+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||1/17|NM_001369950.1:c.-388+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||1/19|NM_032204.5:c.-18+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||1/20|XM_011530442.4:c.-80+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||1/21|XM_011530443.3:c.-154+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||1/21|XM_011530444.3:c.-201+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||1/20|XM_011530445.3:c.-127+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||1/19|XM_011530448.3:c.-80+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||1/20|XM_011530453.3:c.-448+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||1/19|XM_011530454.3:c.-324+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-262+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||||||||||rs57271738|3905|-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||||||||||rs57271738|3905|-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||||||||||rs57271738|3906|-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||||||||||rs57271738|3905|-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||||||||||rs57271738|3906|-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||||||||||rs57271738|3906|-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||||||||||rs57271738|3005|-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||1/21|XM_047441540.1:c.-201+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||1/18|XM_047441541.1:c.-18+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||||||||||rs57271738|3905|-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||1/19|XM_047441543.1:c.-80+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||1/20|XM_047441544.1:c.-154+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||1/18|XM_047441545.1:c.-18+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||1/19|XM_047441546.1:c.-127+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||1/19|XM_047441547.1:c.-127+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||,-|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-262+739del|||||||rs57271738||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29837444del|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|35|-9|16|-9;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46560;gnomADv4_1_AC_joint_XX=24231;gnomADv4_1_AC_joint_XY=22329;gnomADv4_1_AF_grpmax_joint=0.584854;gnomADv4_1_AF_joint=0.306457;gnomADv4_1_AF_joint_XX=0.311893;gnomADv4_1_AF_joint_XY=0.300768;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151930;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8324;gnomADv4_1_nhomalt_joint_XX=4447;gnomADv4_1_nhomalt_joint_XY=3877;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29837457 chr22_29837457_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.476;CADD_Rawscore=0.083912;CSQ=G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||1/19|ENST00000307790.8:c.-18+721T>C|||||||rs5752968||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||1/20|ENST00000397771.6:c.-80+721T>C|||||||rs5752968||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29837457A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||||||||||rs5752968|2907|-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||1/6|ENST00000449900.6:n.95+721T>C|||||||rs5752968||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||1/4|ENST00000453160.5:c.84+721T>C|||||||rs5752968||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||1/4|ENST00000454854.5:c.-81+721T>C|||||||rs5752968||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29837457A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||||||||||rs5752968|2907|-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||1/4|ENST00000460313.1:n.105+721T>C|||||||rs5752968||-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29837457A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000462454|retained_intron||||||||||rs5752968|4877|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||1/5|ENST00000465667.6:n.51+721T>C|||||||rs5752968||-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||1/1|ENST00000492821.1:n.97+721T>C|||||||rs5752968||-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||1/3|ENST00000495681.5:n.97+721T>C|||||||rs5752968||-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.97+721T>C|||||||rs5752968||-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||1/18|ENST00000542393.5:c.-18+721T>C|||||||rs5752968||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||1/18|NM_001242906.2:c.-18+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||1/19|NM_001369920.1:c.-18+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||1/21|NM_001369921.1:c.-154+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||1/20|NM_001369922.1:c.-127+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||1/20|NM_001369923.1:c.-80+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||1/19|NM_001369924.1:c.-18+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||1/18|NM_001369925.1:c.-18+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||1/19|NM_001369926.1:c.-80+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||1/18|NM_001369927.1:c.-18+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||1/20|NM_001369928.1:c.-154+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||1/18|NM_001369929.1:c.-18+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||1/17|NM_001369930.1:c.-18+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||1/22|NM_001369931.1:c.-620+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||1/20|NM_001369932.1:c.-448+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||1/19|NM_001369933.1:c.-324+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-262+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||1/20|NM_001369935.1:c.-484+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-103+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||1/18|NM_001369937.1:c.-165+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||1/20|NM_001369938.1:c.-349+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-189+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-386+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-262+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-124+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-498+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||1/16|NM_001369944.1:c.-230+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-750+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||1/20|NM_001369946.1:c.-782+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-339+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||1/20|NM_001369948.1:c.-848+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-591+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||1/17|NM_001369950.1:c.-388+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||1/19|NM_032204.5:c.-18+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||1/20|XM_011530442.4:c.-80+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||1/21|XM_011530443.3:c.-154+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||1/21|XM_011530444.3:c.-201+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||1/20|XM_011530445.3:c.-127+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||1/19|XM_011530448.3:c.-80+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||1/20|XM_011530453.3:c.-448+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||1/19|XM_011530454.3:c.-324+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-262+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||||||||||rs5752968|3923|-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||||||||||rs5752968|3923|-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||||||||||rs5752968|3924|-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||||||||||rs5752968|3923|-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||||||||||rs5752968|3924|-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||||||||||rs5752968|3924|-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||||||||||rs5752968|3023|-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||1/21|XM_047441540.1:c.-201+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||1/18|XM_047441541.1:c.-18+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||||||||||rs5752968|3923|-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||1/19|XM_047441543.1:c.-80+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||1/20|XM_047441544.1:c.-154+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||1/18|XM_047441545.1:c.-18+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||1/19|XM_047441546.1:c.-127+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||1/19|XM_047441547.1:c.-127+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||,G|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-262+721T>C|||||||rs5752968||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29837457A>G|||||||||||||;SpliceAI=G|ASCC2|0.00|0.00|0.00|0.00|4|-28|-3|33;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000462454,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118452;gnomADv4_1_AC_joint_XX=60790;gnomADv4_1_AC_joint_XY=57662;gnomADv4_1_AF_grpmax_joint=0.915537;gnomADv4_1_AF_joint=0.779136;gnomADv4_1_AF_joint_XX=0.782066;gnomADv4_1_AF_joint_XY=0.77607;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152030;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46679;gnomADv4_1_nhomalt_joint_XX=24086;gnomADv4_1_nhomalt_joint_XY=22593;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29837690 chr22_29837690_G_A G A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=2.624;CADD_Rawscore=0.236875;CSQ=A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||1/19|ENST00000307790.8:c.-18+488C>T|||||||rs9614071||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||1/20|ENST00000397771.6:c.-80+488C>T|||||||rs9614071||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29837690G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||||||||||rs9614071|3140|-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||1/6|ENST00000449900.6:n.95+488C>T|||||||rs9614071||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||1/4|ENST00000453160.5:c.84+488C>T|||||||rs9614071||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||1/4|ENST00000454854.5:c.-81+488C>T|||||||rs9614071||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29837690G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||||||||||rs9614071|3140|-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||1/4|ENST00000460313.1:n.105+488C>T|||||||rs9614071||-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||1/5|ENST00000465667.6:n.51+488C>T|||||||rs9614071||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||1/1|ENST00000492821.1:n.97+488C>T|||||||rs9614071||-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||1/3|ENST00000495681.5:n.97+488C>T|||||||rs9614071||-1||HGNC|HGNC:24103|5||||||||Ensembl||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.97+488C>T|||||||rs9614071||-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||1/18|ENST00000542393.5:c.-18+488C>T|||||||rs9614071||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||1/18|NM_001242906.2:c.-18+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||1/19|NM_001369920.1:c.-18+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||1/21|NM_001369921.1:c.-154+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||1/20|NM_001369922.1:c.-127+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||1/20|NM_001369923.1:c.-80+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||1/19|NM_001369924.1:c.-18+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||1/18|NM_001369925.1:c.-18+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||1/19|NM_001369926.1:c.-80+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||1/18|NM_001369927.1:c.-18+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||1/20|NM_001369928.1:c.-154+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||1/18|NM_001369929.1:c.-18+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||1/17|NM_001369930.1:c.-18+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||1/22|NM_001369931.1:c.-620+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||1/20|NM_001369932.1:c.-448+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||1/19|NM_001369933.1:c.-324+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-262+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||1/20|NM_001369935.1:c.-484+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-103+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||1/18|NM_001369937.1:c.-165+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||1/20|NM_001369938.1:c.-349+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-189+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-386+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-262+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-124+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-498+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||1/16|NM_001369944.1:c.-230+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-750+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||1/20|NM_001369946.1:c.-782+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-339+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||1/20|NM_001369948.1:c.-848+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-591+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||1/17|NM_001369950.1:c.-388+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||1/19|NM_032204.5:c.-18+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||1/20|XM_011530442.4:c.-80+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||1/21|XM_011530443.3:c.-154+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||1/21|XM_011530444.3:c.-201+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||1/20|XM_011530445.3:c.-127+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||1/19|XM_011530448.3:c.-80+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||1/20|XM_011530453.3:c.-448+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||1/19|XM_011530454.3:c.-324+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-262+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||||||||||rs9614071|4156|-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||||||||||rs9614071|4156|-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||||||||||rs9614071|4157|-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||||||||||rs9614071|4156|-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||||||||||rs9614071|4157|-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||||||||||rs9614071|4157|-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||||||||||rs9614071|3256|-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||1/21|XM_047441540.1:c.-201+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||1/18|XM_047441541.1:c.-18+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||||||||||rs9614071|4156|-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||1/19|XM_047441543.1:c.-80+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||1/20|XM_047441544.1:c.-154+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||1/18|XM_047441545.1:c.-18+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||1/19|XM_047441546.1:c.-127+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||1/19|XM_047441547.1:c.-127+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-262+488C>T|||||||rs9614071||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||G|G||||chr22:g.29837690G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7WTS|enhancer||||||||||rs9614071|||||||||||||||||||||chr22:g.29837690G>A|||||||||||||;SpliceAI=A|ASCC2|0.00|0.00|0.00|0.00|-8|-25|46|5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1,ENSR22_B7WTS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,.;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19676;gnomADv4_1_AC_joint_XX=9917;gnomADv4_1_AC_joint_XY=9759;gnomADv4_1_AF_grpmax_joint=0.241172;gnomADv4_1_AF_joint=0.129395;gnomADv4_1_AF_joint_XX=0.12755;gnomADv4_1_AF_joint_XY=0.131325;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1489;gnomADv4_1_nhomalt_joint_XX=760;gnomADv4_1_nhomalt_joint_XY=729;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29838056 chr22_29838056_G_A G A 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=4.441;CADD_Rawscore=0.404633;CSQ=A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||1/19|ENST00000307790.8:c.-18+122C>T|||||||rs2301402||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||1/20|ENST00000397771.6:c.-80+122C>T|||||||rs2301402||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29838056G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||||||||||rs2301402|3506|-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||1/6|ENST00000449900.6:n.95+122C>T|||||||rs2301402||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||1/4|ENST00000453160.5:c.84+122C>T|||||||rs2301402||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||1/4|ENST00000454854.5:c.-81+122C>T|||||||rs2301402||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29838056G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||||||||||rs2301402|3506|-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||1/4|ENST00000460313.1:n.105+122C>T|||||||rs2301402||-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||1/5|ENST00000465667.6:n.51+122C>T|||||||rs2301402||-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||1/1|ENST00000492821.1:n.97+122C>T|||||||rs2301402||-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||1/3|ENST00000495681.5:n.97+122C>T|||||||rs2301402||-1||HGNC|HGNC:24103|5||||||||Ensembl||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||1/4|ENST00000495967.5:n.97+122C>T|||||||rs2301402||-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||1/18|ENST00000542393.5:c.-18+122C>T|||||||rs2301402||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||1/18|NM_001242906.2:c.-18+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||1/19|NM_001369920.1:c.-18+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||1/21|NM_001369921.1:c.-154+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||1/20|NM_001369922.1:c.-127+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||1/20|NM_001369923.1:c.-80+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||1/19|NM_001369924.1:c.-18+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||1/18|NM_001369925.1:c.-18+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||1/19|NM_001369926.1:c.-80+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||1/18|NM_001369927.1:c.-18+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||1/20|NM_001369928.1:c.-154+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||1/18|NM_001369929.1:c.-18+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||1/17|NM_001369930.1:c.-18+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||1/22|NM_001369931.1:c.-620+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||1/20|NM_001369932.1:c.-448+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||1/19|NM_001369933.1:c.-324+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||1/18|NM_001369934.1:c.-262+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||1/20|NM_001369935.1:c.-484+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||1/17|NM_001369936.1:c.-103+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||1/18|NM_001369937.1:c.-165+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||1/20|NM_001369938.1:c.-349+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||1/18|NM_001369939.1:c.-189+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||1/19|NM_001369940.1:c.-386+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||1/18|NM_001369941.1:c.-262+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||1/16|NM_001369942.1:c.-124+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||1/17|NM_001369943.1:c.-498+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||1/16|NM_001369944.1:c.-230+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||1/19|NM_001369945.1:c.-750+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||1/20|NM_001369946.1:c.-782+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||1/16|NM_001369947.1:c.-339+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||1/20|NM_001369948.1:c.-848+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||1/18|NM_001369949.1:c.-591+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||1/17|NM_001369950.1:c.-388+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||1/19|NM_032204.5:c.-18+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||1/20|XM_011530442.4:c.-80+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||1/21|XM_011530443.3:c.-154+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||1/21|XM_011530444.3:c.-201+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||1/20|XM_011530445.3:c.-127+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||1/19|XM_011530448.3:c.-80+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||1/20|XM_011530453.3:c.-448+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||1/19|XM_011530454.3:c.-324+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||1/18|XM_011530455.3:c.-262+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||||||||||rs2301402|4522|-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||||||||||rs2301402|4522|-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||||||||||rs2301402|4523|-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||||||||||rs2301402|4522|-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||||||||||rs2301402|4523|-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||||||||||rs2301402|4523|-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||||||||||rs2301402|3622|-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||1/21|XM_047441540.1:c.-201+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||1/18|XM_047441541.1:c.-18+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||||||||||rs2301402|4522|-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||1/19|XM_047441543.1:c.-80+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||1/20|XM_047441544.1:c.-154+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||1/18|XM_047441545.1:c.-18+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||1/19|XM_047441546.1:c.-127+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||1/19|XM_047441547.1:c.-127+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|intron_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||1/17|XM_047441548.1:c.-262+122C>T|||||||rs2301402||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||G|G||||chr22:g.29838056G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7WTS|enhancer||||||||||rs2301402|||||||||||||||||||||chr22:g.29838056G>A|||||||||||||;SpliceAI=A|ASCC2|0.00|0.00|0.00|0.00|-9|48|2|-44;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1,ENSR22_B7WTS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,.;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118350;gnomADv4_1_AC_joint_XX=57633;gnomADv4_1_AC_joint_XY=60717;gnomADv4_1_AF_grpmax_joint=0.379052;gnomADv4_1_AF_joint=0.285223;gnomADv4_1_AF_joint_XX=0.300987;gnomADv4_1_AF_joint_XY=0.271715;gnomADv4_1_AN_grpmax_joint=208214;gnomADv4_1_AN_joint=414938;gnomADv4_1_AN_joint_XX=191480;gnomADv4_1_AN_joint_XY=223458;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=20255;gnomADv4_1_nhomalt_joint_XX=10166;gnomADv4_1_nhomalt_joint_XY=10089;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29838203 chr22_29838203_T_TGCCGCC T TGCCGCC 47 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=4.502;CADDIndel_Rawscore=0.410076;CSQ=GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding|1/20||ENST00000307790.8:c.-49_-44dup||71-72|||||rs3838960||-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29838223_29838228dup|||||||||0|0|0||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding|1/21||ENST00000397771.6:c.-111_-106dup||73-74|||||rs3838960||-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl|||||||chr22:g.29838223_29838228dup|||||||||0|0|2||,GCCGCC|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||||||||||rs3838960|3653|-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl|||||||chr22:g.29838223_29838228dup|||||||||||||,GCCGCC|non_coding_transcript_exon_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined|1/7||ENST00000449900.6:n.64_69dup||69-70|||||rs3838960||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29838223_29838228dup|||||||||||||,GCCGCC|inframe_insertion&NMD_transcript_variant|MODERATE|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay|1/5||ENST00000453160.5:c.53_58dup|ENSP00000410531.1:p.Gly19_Gly20dup|58-59|60-61|20-21|-/GG|-/GGCGGC|rs3838960||-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl|||||||chr22:g.29838223_29838228dup|||||||||||||,GCCGCC|5_prime_UTR_variant&NMD_transcript_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay|1/5||ENST00000454854.5:c.-112_-107dup||71-72|||||rs3838960||-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29838223_29838228dup|||||||||1|1|0||,GCCGCC|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||||||||||rs3838960|3653|-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl|||||||chr22:g.29838223_29838228dup|||||||||||||,GCCGCC|non_coding_transcript_exon_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron|1/5||ENST00000460313.1:n.74_79dup||79-80|||||rs3838960||-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29838223_29838228dup|||||||||||||,GCCGCC|non_coding_transcript_exon_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron|1/6||ENST00000465667.6:n.20_25dup||25-26|||||rs3838960||-1||HGNC|HGNC:24103|3||||||||Ensembl|||||||chr22:g.29838223_29838228dup|||||||||||||,GCCGCC|non_coding_transcript_exon_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron|1/2||ENST00000492821.1:n.66_71dup||71-72|||||rs3838960||-1||HGNC|HGNC:24103|2||||||||Ensembl|||||||chr22:g.29838223_29838228dup|||||||||||||,GCCGCC|non_coding_transcript_exon_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron|1/4||ENST00000495681.5:n.66_71dup||71-72|||||rs3838960||-1||HGNC|HGNC:24103|5||||||||Ensembl|||||||chr22:g.29838223_29838228dup|||||||||||||,GCCGCC|non_coding_transcript_exon_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined|1/5||ENST00000495967.5:n.66_71dup||71-72|||||rs3838960||-1||HGNC|HGNC:24103|4||||||||Ensembl|||||||chr22:g.29838223_29838228dup|||||||||||||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding|1/19||ENST00000542393.5:c.-49_-44dup||101-102|||||rs3838960||-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl|||||||chr22:g.29838223_29838228dup|||||||||0|0|0||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding|1/19||NM_001242906.2:c.-49_-44dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|0||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding|1/20||NM_001369920.1:c.-49_-44dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|0||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding|1/22||NM_001369921.1:c.-185_-180dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|2||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding|1/21||NM_001369922.1:c.-158_-153dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|2||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding|1/21||NM_001369923.1:c.-111_-106dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|2||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding|1/20||NM_001369924.1:c.-49_-44dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|0||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding|1/19||NM_001369925.1:c.-49_-44dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|0||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding|1/20||NM_001369926.1:c.-111_-106dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|2||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding|1/19||NM_001369927.1:c.-49_-44dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|0||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding|1/21||NM_001369928.1:c.-185_-180dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|2||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding|1/19||NM_001369929.1:c.-49_-44dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|0||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding|1/18||NM_001369930.1:c.-49_-44dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|0||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding|1/23||NM_001369931.1:c.-651_-646dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|1|7||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding|1/21||NM_001369932.1:c.-479_-474dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|1|6||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding|1/20||NM_001369933.1:c.-355_-350dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|1|3||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding|1/19||NM_001369934.1:c.-293_-288dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|1|1||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding|1/21||NM_001369935.1:c.-515_-510dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|1|5||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding|1/18||NM_001369936.1:c.-134_-129dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|1|0||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding|1/19||NM_001369937.1:c.-196_-191dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|1|2||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding|1/21||NM_001369938.1:c.-380_-375dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|1|4||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding|1/19||NM_001369939.1:c.-220_-215dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|1|1||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding|1/20||NM_001369940.1:c.-417_-412dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|1|4||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding|1/19||NM_001369941.1:c.-293_-288dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|1|1||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding|1/17||NM_001369942.1:c.-155_-150dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|0||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding|1/18||NM_001369943.1:c.-529_-524dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|5||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding|1/17||NM_001369944.1:c.-261_-256dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|3||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding|1/20||NM_001369945.1:c.-781_-776dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|6||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding|1/21||NM_001369946.1:c.-813_-808dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|11||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding|1/17||NM_001369947.1:c.-370_-365dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|4||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding|1/21||NM_001369948.1:c.-879_-874dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|7||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding|1/19||NM_001369949.1:c.-622_-617dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|5||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding|1/18||NM_001369950.1:c.-419_-414dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|2||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding|1/20||NM_032204.5:c.-49_-44dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|0||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding|1/21||XM_011530442.4:c.-111_-106dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|2||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding|1/22||XM_011530443.3:c.-185_-180dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|2||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding|1/22||XM_011530444.3:c.-232_-227dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|2||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding|1/21||XM_011530445.3:c.-158_-153dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|2||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding|1/20||XM_011530448.3:c.-111_-106dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|2||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding|1/21||XM_011530453.3:c.-479_-474dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|1|6||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding|1/20||XM_011530454.3:c.-355_-350dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|1|3||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding|1/19||XM_011530455.3:c.-293_-288dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|1|1||,GCCGCC|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452287.2|protein_coding||||||||||rs3838960|4669|-1||EntrezGene|HGNC:24103|||XP_024308055.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||||||,GCCGCC|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452288.2|protein_coding||||||||||rs3838960|4669|-1||EntrezGene|HGNC:24103|||XP_024308056.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||||||,GCCGCC|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452289.2|protein_coding||||||||||rs3838960|4670|-1||EntrezGene|HGNC:24103|||XP_024308057.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||||||,GCCGCC|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452290.2|protein_coding||||||||||rs3838960|4669|-1||EntrezGene|HGNC:24103|||XP_024308058.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||||||,GCCGCC|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_024452291.2|protein_coding||||||||||rs3838960|4670|-1||EntrezGene|HGNC:24103|||XP_024308059.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||||||,GCCGCC|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441538.1|protein_coding||||||||||rs3838960|4670|-1||EntrezGene|HGNC:24103|||XP_047297494.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||||||,GCCGCC|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441539.1|protein_coding||||||||||rs3838960|3769|-1||EntrezGene|HGNC:24103|||XP_047297495.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||||||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding|1/22||XM_047441540.1:c.-232_-227dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|2||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding|1/19||XM_047441541.1:c.-49_-44dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|0||,GCCGCC|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441542.1|protein_coding||||||||||rs3838960|4669|-1||EntrezGene|HGNC:24103|||XP_047297498.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||||||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding|1/20||XM_047441543.1:c.-111_-106dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|2||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding|1/21||XM_047441544.1:c.-185_-180dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|2||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding|1/19||XM_047441545.1:c.-49_-44dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|0||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding|1/20||XM_047441546.1:c.-158_-153dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|2||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding|1/20||XM_047441547.1:c.-158_-153dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|0|2||,GCCGCC|5_prime_UTR_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding|1/18||XM_047441548.1:c.-293_-288dup||71-72|||||rs3838960||-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq|||||||chr22:g.29838223_29838228dup|||||||||0|1|1||,GCCGCC|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7WTS|enhancer||||||||||rs3838960|||||||||||||||||||||chr22:g.29838223_29838228dup|||||||||||||;TYPE=INDEL;VEP_Allele=GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC,GCCGCC;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_024452287.2,XM_024452288.2,XM_024452289.2,XM_024452290.2,XM_024452291.2,XM_047441538.1,XM_047441539.1,XM_047441540.1,XM_047441541.1,XM_047441542.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1,ENSR22_B7WTS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,.;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,.;VEP_existing_InFrame_oORFs=0,0,.,.,.,1,.,.,.,.,.,.,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,.,.,.,.,.,.,.,0,0,.,0,0,0,0,0,0,.;VEP_existing_OutOfFrame_oORFs=0,0,.,.,.,1,.,.,.,.,.,.,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1,1,1,.,.,.,.,.,.,.,0,0,.,0,0,0,0,0,1,.;VEP_existing_uORFs=0,2,.,.,.,0,.,.,.,.,.,.,0,0,0,2,2,2,0,0,2,0,2,0,0,7,6,3,1,5,0,2,4,1,4,1,0,5,3,6,11,4,7,5,2,0,2,2,2,2,2,6,3,1,.,.,.,.,.,.,.,2,0,.,2,2,0,2,2,1,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=128587;gnomADv4_1_AC_joint_XX=62915;gnomADv4_1_AC_joint_XY=65672;gnomADv4_1_AF_grpmax_joint=0.335719;gnomADv4_1_AF_joint=0.280313;gnomADv4_1_AF_joint_XX=0.299515;gnomADv4_1_AF_joint_XY=0.264093;gnomADv4_1_AN_grpmax_joint=228340;gnomADv4_1_AN_joint=458726;gnomADv4_1_AN_joint_XX=210056;gnomADv4_1_AN_joint_XY=248670;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=17517;gnomADv4_1_nhomalt_joint_XX=8821;gnomADv4_1_nhomalt_joint_XY=8696;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29839503 chr22_29839503_T_C T C 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.341;CADD_Rawscore=-0.289628;CSQ=C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||||||||||rs4820820|1229|-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||||||||||rs4820820|1227|-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000431535|protein_coding||||||||||rs4820820|4953|-1|cds_end_NF|HGNC|HGNC:24103|5||ENSP00000412382||B1AH59.84|UPI000165DDD4|||Ensembl||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||||||||||rs4820820|1231|-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs4820820|1242|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs4820820|1229|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000458594|nonsense_mediated_decay||||||||||rs4820820|4953|-1||HGNC|HGNC:24103|5||ENSP00000403031||F2Z2W4.76|UPI000173A30B|||Ensembl||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs4820820|1221|-1||HGNC|HGNC:24103|2||||||||Ensembl||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs4820820|1275|-1||HGNC|HGNC:24103|3||||||||Ensembl||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||||||||||rs4820820|1229|-1||HGNC|HGNC:24103|2||||||||Ensembl||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs4820820|1229|-1||HGNC|HGNC:24103|5||||||||Ensembl||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||||||||||rs4820820|1229|-1||HGNC|HGNC:24103|4||||||||Ensembl||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||||||||||rs4820820|1199|-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||||||||||rs4820820|1229|-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||T|T||||chr22:g.29839503T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000431535,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000458594,ENST00000460313,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_047441540.1,XM_047441541.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119343;gnomADv4_1_AC_joint_XX=61241;gnomADv4_1_AC_joint_XY=58102;gnomADv4_1_AF_grpmax_joint=0.925017;gnomADv4_1_AF_joint=0.785772;gnomADv4_1_AF_joint_XX=0.788721;gnomADv4_1_AF_joint_XY=0.782687;gnomADv4_1_AN_grpmax_joint=41436;gnomADv4_1_AN_joint=151880;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=74234;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=47543;gnomADv4_1_nhomalt_joint_XX=24530;gnomADv4_1_nhomalt_joint_XY=23013;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29840254 chr22_29840254_G_T G T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.099;CADD_Rawscore=-0.612974;CSQ=T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||||||||||rs2105870|1980|-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||||||||||rs2105870|1978|-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||||||||||rs2105870|1982|-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs2105870|1993|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs2105870|1980|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs2105870|1972|-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs2105870|2026|-1||HGNC|HGNC:24103|3||||||||Ensembl||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||||||||||rs2105870|1980|-1||HGNC|HGNC:24103|2||||||||Ensembl||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs2105870|1980|-1||HGNC|HGNC:24103|5||||||||Ensembl||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||||||||||rs2105870|1980|-1||HGNC|HGNC:24103|4||||||||Ensembl||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||||||||||rs2105870|1950|-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||||||||||rs2105870|1980|-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||G|G||||chr22:g.29840254G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000460313,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_047441540.1,XM_047441541.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=117599;gnomADv4_1_AC_joint_XX=60312;gnomADv4_1_AC_joint_XY=57287;gnomADv4_1_AF_grpmax_joint=0.917954;gnomADv4_1_AF_joint=0.772854;gnomADv4_1_AF_joint_XX=0.775258;gnomADv4_1_AF_joint_XY=0.770339;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=45744;gnomADv4_1_nhomalt_joint_XX=23569;gnomADv4_1_nhomalt_joint_XY=22175;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29840406 chr22_29840406_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.987;CADD_Rawscore=-0.021073;CSQ=G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||||||||||rs2097351|2132|-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||||||||||rs2097351|2130|-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||||||||||rs2097351|2134|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs2097351|2145|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs2097351|2132|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs2097351|2124|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs2097351|2178|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||||||||||rs2097351|2132|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs2097351|2132|-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||||||||||rs2097351|2132|-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||||||||||rs2097351|2102|-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||||||||||rs2097351|2132|-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29840406A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000460313,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_047441540.1,XM_047441541.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40570;gnomADv4_1_AC_joint_XX=20917;gnomADv4_1_AC_joint_XY=19653;gnomADv4_1_AF_grpmax_joint=0.366367;gnomADv4_1_AF_joint=0.267059;gnomADv4_1_AF_joint_XX=0.26923;gnomADv4_1_AF_joint_XY=0.264787;gnomADv4_1_AN_grpmax_joint=41412;gnomADv4_1_AN_joint=151914;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5813;gnomADv4_1_nhomalt_joint_XX=3022;gnomADv4_1_nhomalt_joint_XY=2791;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29840455 chr22_29840455_A_T A T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=4.69;CADD_Rawscore=0.427191;CSQ=T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||||||||||rs2097352|2181|-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||||||||||rs2097352|2179|-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||||||||||rs2097352|2183|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs2097352|2194|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs2097352|2181|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs2097352|2173|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs2097352|2227|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||||||||||rs2097352|2181|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs2097352|2181|-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||||||||||rs2097352|2181|-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||||||||||rs2097352|2151|-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||||||||||rs2097352|2181|-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29840455A>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000460313,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_047441540.1,XM_047441541.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40530;gnomADv4_1_AC_joint_XX=20890;gnomADv4_1_AC_joint_XY=19640;gnomADv4_1_AF_grpmax_joint=0.36611;gnomADv4_1_AF_joint=0.266526;gnomADv4_1_AF_joint_XX=0.268778;gnomADv4_1_AF_joint_XY=0.26417;gnomADv4_1_AN_grpmax_joint=41452;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5800;gnomADv4_1_nhomalt_joint_XX=3017;gnomADv4_1_nhomalt_joint_XY=2783;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29841373 chr22_29841373_A_T A T 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.59;CADD_Rawscore=0.103372;CSQ=T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||||||||||rs1071888|3099|-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||||||||||rs1071888|3097|-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||||||||||rs1071888|3101|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs1071888|3112|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs1071888|3099|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs1071888|3091|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs1071888|3145|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||||||||||rs1071888|3099|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs1071888|3099|-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||||||||||rs1071888|3099|-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||||||||||rs1071888|3069|-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||||||||||rs1071888|3099|-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29841373A>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000460313,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_047441540.1,XM_047441541.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119942;gnomADv4_1_AC_joint_XX=61572;gnomADv4_1_AC_joint_XY=58370;gnomADv4_1_AF_grpmax_joint=0.918266;gnomADv4_1_AF_joint=0.791112;gnomADv4_1_AF_joint_XX=0.793822;gnomADv4_1_AF_joint_XY=0.788272;gnomADv4_1_AN_grpmax_joint=41378;gnomADv4_1_AN_joint=151612;gnomADv4_1_AN_joint_XX=77564;gnomADv4_1_AN_joint_XY=74048;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=47980;gnomADv4_1_nhomalt_joint_XX=24766;gnomADv4_1_nhomalt_joint_XY=23214;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29841595 chr22_29841595_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.45;CADD_Rawscore=0.218249;CSQ=T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||||||||||rs8140366|3321|-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||||||||||rs8140366|3319|-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||||||||||rs8140366|3323|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs8140366|3334|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs8140366|3321|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs8140366|3313|-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs8140366|3367|-1||HGNC|HGNC:24103|3||||||||Ensembl||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||||||||||rs8140366|3321|-1||HGNC|HGNC:24103|2||||||||Ensembl||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs8140366|3321|-1||HGNC|HGNC:24103|5||||||||Ensembl||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||||||||||rs8140366|3321|-1||HGNC|HGNC:24103|4||||||||Ensembl||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||||||||||rs8140366|3291|-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||||||||||rs8140366|3321|-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||C|C||||chr22:g.29841595C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000460313,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_047441540.1,XM_047441541.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23458;gnomADv4_1_AC_joint_XX=11927;gnomADv4_1_AC_joint_XY=11531;gnomADv4_1_AF_grpmax_joint=0.243108;gnomADv4_1_AF_joint=0.154832;gnomADv4_1_AF_joint_XX=0.153917;gnomADv4_1_AF_joint_XY=0.155791;gnomADv4_1_AN_grpmax_joint=4788;gnomADv4_1_AN_joint=151506;gnomADv4_1_AN_joint_XX=77490;gnomADv4_1_AN_joint_XY=74016;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1895;gnomADv4_1_nhomalt_joint_XX=973;gnomADv4_1_nhomalt_joint_XY=922;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29842085 chr22_29842085_A_G A G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.463;CADD_Rawscore=0.081631;CSQ=G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||||||||||rs1894474|3811|-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||||||||||rs1894474|3809|-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||||||||||rs1894474|3813|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs1894474|3824|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs1894474|3811|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs1894474|3803|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs1894474|3857|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||||||||||rs1894474|3811|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs1894474|3811|-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||||||||||rs1894474|3811|-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||||||||||rs1894474|3781|-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||||||||||rs1894474|3811|-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29842085A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000460313,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_047441540.1,XM_047441541.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70359;gnomADv4_1_AC_joint_XX=36751;gnomADv4_1_AC_joint_XY=33608;gnomADv4_1_AF_grpmax_joint=0.616099;gnomADv4_1_AF_joint=0.462919;gnomADv4_1_AF_joint_XX=0.472986;gnomADv4_1_AF_joint_XY=0.452389;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74290;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16799;gnomADv4_1_nhomalt_joint_XX=8939;gnomADv4_1_nhomalt_joint_XY=7860;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29842328 chr22_29842328_A_T A T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=5.483;CADD_Rawscore=0.501927;CSQ=T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000307790|protein_coding||||||||||rs1076135|4054|-1||HGNC|HGNC:24103|1|CCDS13869.1|ENSP00000305502|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000397771|protein_coding||||||||||rs1076135|4052|-1||HGNC|HGNC:24103|5|CCDS13869.1|ENSP00000380877|Q9H1I8.171||UPI000006E83B|Q9H1I8-1||Ensembl||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000449900|protein_coding_CDS_not_defined||||||||||rs1076135|4056|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000453160|nonsense_mediated_decay||||||||||rs1076135|4067|-1|cds_start_NF|HGNC|HGNC:24103|4||ENSP00000410531||H7C395.39|UPI000173A30C|||Ensembl||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000454854|nonsense_mediated_decay||||||||||rs1076135|4054|-1||HGNC|HGNC:24103|4||ENSP00000408930||F2Z2W4.76|UPI000173A30B|||Ensembl||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000460313|retained_intron||||||||||rs1076135|4046|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000465667|retained_intron||||||||||rs1076135|4100|-1||HGNC|HGNC:24103|3||||||||Ensembl||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000492821|retained_intron||||||||||rs1076135|4054|-1||HGNC|HGNC:24103|2||||||||Ensembl||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495681|retained_intron||||||||||rs1076135|4054|-1||HGNC|HGNC:24103|5||||||||Ensembl||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000495967|protein_coding_CDS_not_defined||||||||||rs1076135|4054|-1||HGNC|HGNC:24103|4||||||||Ensembl||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|ENSG00000100325|Transcript|ENST00000542393|protein_coding||||||||||rs1076135|4024|-1||HGNC|HGNC:24103|2|CCDS56226.1|ENSP00000437570|Q9H1I8.171||UPI0002064DEF|Q9H1I8-3||Ensembl||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001242906.2|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001229835.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369920.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356849.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369921.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356850.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369922.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356851.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369923.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356852.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369924.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356853.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369925.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356854.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369926.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356855.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369927.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356856.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369928.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356857.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369929.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356858.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369930.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356859.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369931.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356860.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369932.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356861.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369933.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356862.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369934.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356863.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369935.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356864.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369936.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356865.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369937.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356866.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369938.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356867.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369939.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356868.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369940.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356869.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369941.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356870.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369942.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356871.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369943.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356872.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369944.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356873.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369945.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356874.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369946.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356875.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369947.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356876.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369948.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356877.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369949.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356878.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_001369950.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_001356879.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|NM_032204.5|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||NP_115580.2||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530442.4|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||XP_011528744.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530443.3|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||XP_011528745.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530444.3|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||XP_011528746.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530445.3|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||XP_011528747.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530448.3|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||XP_011528750.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530453.3|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||XP_011528755.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530454.3|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||XP_011528756.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_011530455.3|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||XP_011528757.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441540.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||XP_047297496.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441541.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||XP_047297497.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441543.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||XP_047297499.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441544.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||XP_047297500.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441545.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||XP_047297501.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441546.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||XP_047297502.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441547.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||XP_047297503.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||,T|upstream_gene_variant|MODIFIER|ASCC2|84164|Transcript|XM_047441548.1|protein_coding||||||||||rs1076135|4054|-1||EntrezGene|HGNC:24103|||XP_047297504.1||||||RefSeq||A|A||||chr22:g.29842328A>T|||1||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000307790,ENST00000397771,ENST00000449900,ENST00000453160,ENST00000454854,ENST00000460313,ENST00000465667,ENST00000492821,ENST00000495681,ENST00000495967,ENST00000542393,NM_001242906.2,NM_001369920.1,NM_001369921.1,NM_001369922.1,NM_001369923.1,NM_001369924.1,NM_001369925.1,NM_001369926.1,NM_001369927.1,NM_001369928.1,NM_001369929.1,NM_001369930.1,NM_001369931.1,NM_001369932.1,NM_001369933.1,NM_001369934.1,NM_001369935.1,NM_001369936.1,NM_001369937.1,NM_001369938.1,NM_001369939.1,NM_001369940.1,NM_001369941.1,NM_001369942.1,NM_001369943.1,NM_001369944.1,NM_001369945.1,NM_001369946.1,NM_001369947.1,NM_001369948.1,NM_001369949.1,NM_001369950.1,NM_032204.5,XM_011530442.4,XM_011530443.3,XM_011530444.3,XM_011530445.3,XM_011530448.3,XM_011530453.3,XM_011530454.3,XM_011530455.3,XM_047441540.1,XM_047441541.1,XM_047441543.1,XM_047441544.1,XM_047441545.1,XM_047441546.1,XM_047441547.1,XM_047441548.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,ENSG00000100325,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164,84164;VEP_SYMBOL=ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2,ASCC2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64272;gnomADv4_1_AC_joint_XX=33584;gnomADv4_1_AC_joint_XY=30688;gnomADv4_1_AF_grpmax_joint=0.609224;gnomADv4_1_AF_joint=0.422525;gnomADv4_1_AF_joint_XX=0.432004;gnomADv4_1_AF_joint_XY=0.412617;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152114;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13973;gnomADv4_1_nhomalt_joint_XX=7441;gnomADv4_1_nhomalt_joint_XY=6532;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29844124 chr22_29844124_T_TTTTG T TTTTG 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=1.763;CADDIndel_Rawscore=0.130529;CSQ=TTTG|intergenic_variant|MODIFIER|||||||||||||||rs113958435|||||||||||||||||||||chr22:g.29844148_29844151dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTG;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=69472;gnomADv4_1_AC_joint_XX=36174;gnomADv4_1_AC_joint_XY=33298;gnomADv4_1_AF_grpmax_joint=0.689363;gnomADv4_1_AF_joint=0.466343;gnomADv4_1_AF_joint_XX=0.473011;gnomADv4_1_AF_joint_XY=0.459308;gnomADv4_1_AN_grpmax_joint=4964;gnomADv4_1_AN_joint=148972;gnomADv4_1_AN_joint_XX=76476;gnomADv4_1_AN_joint_XY=72496;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16401;gnomADv4_1_nhomalt_joint_XX=8737;gnomADv4_1_nhomalt_joint_XY=7664;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29844789 chr22_29844789_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.853;CADD_Rawscore=0.538444;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs9614075|||||||||||||||||||||chr22:g.29844789C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=20446;gnomADv4_1_AC_joint_XX=10297;gnomADv4_1_AC_joint_XY=10149;gnomADv4_1_AF_grpmax_joint=0.24376;gnomADv4_1_AF_joint=0.134389;gnomADv4_1_AF_joint_XX=0.132407;gnomADv4_1_AF_joint_XY=0.136463;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=152140;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1549;gnomADv4_1_nhomalt_joint_XX=784;gnomADv4_1_nhomalt_joint_XY=765;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29845494 chr22_29845494_C_CTTT C CTTT 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=27;CADDIndel_PHREDscore=0.162;CADDIndel_Rawscore=-0.482157;CSQ=TTT|intergenic_variant|MODIFIER|||||||||||||||rs34217861|||||||||||||||||||||chr22:g.29845512_29845514dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=27984;gnomADv4_1_AC_joint_XX=15814;gnomADv4_1_AC_joint_XY=12170;gnomADv4_1_AF_grpmax_joint=0.546592;gnomADv4_1_AF_joint=0.264509;gnomADv4_1_AF_joint_XX=0.276459;gnomADv4_1_AF_joint_XY=0.250442;gnomADv4_1_AN_grpmax_joint=3198;gnomADv4_1_AN_joint=105796;gnomADv4_1_AN_joint_XX=57202;gnomADv4_1_AN_joint_XY=48594;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4592;gnomADv4_1_nhomalt_joint_XX=2660;gnomADv4_1_nhomalt_joint_XY=1932;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29846525 chr22_29846525_ATTGAGT_A ATTGAGT A 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=3.198;CADDIndel_Rawscore=0.293178;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs71670234|||||||||||||||||||||chr22:g.29846527_29846532del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=23420;gnomADv4_1_AC_joint_XX=11917;gnomADv4_1_AC_joint_XY=11503;gnomADv4_1_AF_grpmax_joint=0.243558;gnomADv4_1_AF_joint=0.154022;gnomADv4_1_AF_joint_XX=0.153317;gnomADv4_1_AF_joint_XY=0.15476;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152056;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1851;gnomADv4_1_nhomalt_joint_XX=957;gnomADv4_1_nhomalt_joint_XY=894;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29848846 chr22_29848846_A_T A T 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=5.489;CADD_Rawscore=0.502495;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs3958027|||||||||||||||||||||chr22:g.29848846A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37969;gnomADv4_1_AC_joint_XX=20131;gnomADv4_1_AC_joint_XY=17838;gnomADv4_1_AF_grpmax_joint=0.363818;gnomADv4_1_AF_joint=0.249583;gnomADv4_1_AF_joint_XX=0.258866;gnomADv4_1_AF_joint_XY=0.239874;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6017;gnomADv4_1_nhomalt_joint_XX=3332;gnomADv4_1_nhomalt_joint_XY=2685;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29848960 chr22_29848960_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=14.95;CADD_Rawscore=1.63625;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs9614077|||||||||||||||||||||chr22:g.29848960C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37997;gnomADv4_1_AC_joint_XX=20167;gnomADv4_1_AC_joint_XY=17830;gnomADv4_1_AF_grpmax_joint=0.363763;gnomADv4_1_AF_joint=0.250102;gnomADv4_1_AF_joint_XX=0.259563;gnomADv4_1_AF_joint_XY=0.240199;gnomADv4_1_AN_grpmax_joint=67948;gnomADv4_1_AN_joint=151926;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6020;gnomADv4_1_nhomalt_joint_XX=3341;gnomADv4_1_nhomalt_joint_XY=2679;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29849171 chr22_29849171_A_G A G 48 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=1.563;CADD_Rawscore=0.098958;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4820822|||||||||||||||||||||chr22:g.29849171A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=118620;gnomADv4_1_AC_joint_XX=60893;gnomADv4_1_AC_joint_XY=57727;gnomADv4_1_AF_grpmax_joint=0.919837;gnomADv4_1_AF_joint=0.784088;gnomADv4_1_AF_joint_XX=0.786487;gnomADv4_1_AF_joint_XY=0.781573;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151284;gnomADv4_1_AN_joint_XX=77424;gnomADv4_1_AN_joint_XY=73860;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46932;gnomADv4_1_nhomalt_joint_XX=24206;gnomADv4_1_nhomalt_joint_XY=22726;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29850862 chr22_29850862_C_CAA;chr22_29850862_C_CA C CAA 37 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=37;CADDIndel_PHREDscore=2.699;CADDIndel_Rawscore=0.244659;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||rs60348833|||||||||||||||||||||chr22:g.29850883_29850884dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=14900;gnomADv4_1_AC_joint_XX=8222;gnomADv4_1_AC_joint_XY=6678;gnomADv4_1_AF_grpmax_joint=0.234471;gnomADv4_1_AF_joint=0.158974;gnomADv4_1_AF_joint_XX=0.159576;gnomADv4_1_AF_joint_XY=0.158239;gnomADv4_1_AN_grpmax_joint=2286;gnomADv4_1_AN_joint=93726;gnomADv4_1_AN_joint_XX=51524;gnomADv4_1_AN_joint_XY=42202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1433;gnomADv4_1_nhomalt_joint_XX=805;gnomADv4_1_nhomalt_joint_XY=628;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29850862 chr22_29850862_C_CAA;chr22_29850862_C_CA C CA 37 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=14;CADDIndel_PHREDscore=2.741;CADDIndel_Rawscore=0.248969;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs60348833|||||||||||||||||||||chr22:g.29850884dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=70583;gnomADv4_1_AC_joint_XX=39129;gnomADv4_1_AC_joint_XY=31454;gnomADv4_1_AF_grpmax_joint=0.82;gnomADv4_1_AF_joint=0.746641;gnomADv4_1_AF_joint_XX=0.752452;gnomADv4_1_AF_joint_XY=0.739537;gnomADv4_1_AN_grpmax_joint=150;gnomADv4_1_AN_joint=94534;gnomADv4_1_AN_joint_XX=52002;gnomADv4_1_AN_joint_XY=42532;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=26759;gnomADv4_1_nhomalt_joint_XX=14951;gnomADv4_1_nhomalt_joint_XY=11808;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29851810 chr22_29851810_A_AT A AT 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=12;CADDIndel_PHREDscore=0.46;CADDIndel_Rawscore=-0.21377;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs34881463|||||||||||||||||||||chr22:g.29851834dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=51256;gnomADv4_1_AC_joint_XX=28480;gnomADv4_1_AC_joint_XY=22776;gnomADv4_1_AF_grpmax_joint=0.70138;gnomADv4_1_AF_joint=0.513783;gnomADv4_1_AF_joint_XX=0.527056;gnomADv4_1_AF_joint_XY=0.498097;gnomADv4_1_AN_grpmax_joint=3044;gnomADv4_1_AN_joint=99762;gnomADv4_1_AN_joint_XX=54036;gnomADv4_1_AN_joint_XY=45726;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14366;gnomADv4_1_nhomalt_joint_XX=8165;gnomADv4_1_nhomalt_joint_XY=6201;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29851820 chr22_29851820_T_C T C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=.;AF_XY=0.5;AN=4;AN_XX=0;AN_XY=4;AQ=40;CADD_PHREDscore=1.898;CADD_Rawscore=0.15004;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs9614081|||||||||||||||||||||chr22:g.29851820T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=22237;gnomADv4_1_AC_joint_XX=11448;gnomADv4_1_AC_joint_XY=10789;gnomADv4_1_AF_grpmax_joint=0.249228;gnomADv4_1_AF_joint=0.153524;gnomADv4_1_AF_joint_XX=0.153405;gnomADv4_1_AF_joint_XY=0.15365;gnomADv4_1_AN_grpmax_joint=4534;gnomADv4_1_AN_joint=144844;gnomADv4_1_AN_joint_XX=74626;gnomADv4_1_AN_joint_XY=70218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1764;gnomADv4_1_nhomalt_joint_XX=914;gnomADv4_1_nhomalt_joint_XY=850;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29852016 chr22_29852018_T_A;chr22_29852016_ATT_A ATT A 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=32;CADDIndel_PHREDscore=0.282;CADDIndel_Rawscore=-0.337864;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs59110116|||||||||||||||||||||chr22:g.29852031_29852032del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=67317;gnomADv4_1_AC_joint_XX=35566;gnomADv4_1_AC_joint_XY=31751;gnomADv4_1_AF_grpmax_joint=0.672521;gnomADv4_1_AF_joint=0.490699;gnomADv4_1_AF_joint_XX=0.498892;gnomADv4_1_AF_joint_XY=0.481835;gnomADv4_1_AN_grpmax_joint=4840;gnomADv4_1_AN_joint=137186;gnomADv4_1_AN_joint_XX=71290;gnomADv4_1_AN_joint_XY=65896;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16780;gnomADv4_1_nhomalt_joint_XX=8989;gnomADv4_1_nhomalt_joint_XY=7791;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29852018 chr22_29852018_T_A;chr22_29852016_ATT_A T A 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=46;CADD_PHREDscore=0.54;CADD_Rawscore=-0.174121;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs11090583|||||||||||||||||||||chr22:g.29852018T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=43475;gnomADv4_1_AC_joint_XX=22612;gnomADv4_1_AC_joint_XY=20863;gnomADv4_1_AF_grpmax_joint=0.666667;gnomADv4_1_AF_joint=0.586106;gnomADv4_1_AF_joint_XX=0.586289;gnomADv4_1_AF_joint_XY=0.585908;gnomADv4_1_AN_grpmax_joint=204;gnomADv4_1_AN_joint=74176;gnomADv4_1_AN_joint_XX=38568;gnomADv4_1_AN_joint_XY=35608;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7044;gnomADv4_1_nhomalt_joint_XX=3686;gnomADv4_1_nhomalt_joint_XY=3358;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29852020 chr22_29852020_T_A T A 47 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.258;CADD_Rawscore=-0.360722;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs10589638|||||||||||||||||||||chr22:g.29852020T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=87384;gnomADv4_1_AC_joint_XX=45806;gnomADv4_1_AC_joint_XY=41578;gnomADv4_1_AF_grpmax_joint=0.808564;gnomADv4_1_AF_joint=0.668022;gnomADv4_1_AF_joint_XX=0.673123;gnomADv4_1_AF_joint_XY=0.662492;gnomADv4_1_AN_grpmax_joint=4764;gnomADv4_1_AN_joint=130810;gnomADv4_1_AN_joint_XX=68050;gnomADv4_1_AN_joint_XY=62760;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=27332;gnomADv4_1_nhomalt_joint_XX=14484;gnomADv4_1_nhomalt_joint_XY=12848;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29852022 chr22_29852022_T_A T A 49 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.055;CADD_Rawscore=-0.775782;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs143899200|||||||||||||||||||||chr22:g.29852022T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=76354;gnomADv4_1_AC_joint_XX=40118;gnomADv4_1_AC_joint_XY=36236;gnomADv4_1_AF_grpmax_joint=0.725557;gnomADv4_1_AF_joint=0.572172;gnomADv4_1_AF_joint_XX=0.578386;gnomADv4_1_AF_joint_XY=0.565445;gnomADv4_1_AN_grpmax_joint=4664;gnomADv4_1_AN_joint=133446;gnomADv4_1_AN_joint_XX=69362;gnomADv4_1_AN_joint_XY=64084;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=20905;gnomADv4_1_nhomalt_joint_XX=11148;gnomADv4_1_nhomalt_joint_XY=9757;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29853194 chr22_29853194_A_G A G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=4.504;CADD_Rawscore=0.410279;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs548681870|||||||||||||||||||||chr22:g.29853194A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=294;gnomADv4_1_AC_joint_XX=169;gnomADv4_1_AC_joint_XY=125;gnomADv4_1_AF_grpmax_joint=0.00349959;gnomADv4_1_AF_joint=0.00193192;gnomADv4_1_AF_joint_XX=0.00217268;gnomADv4_1_AF_joint_XY=0.0016802;gnomADv4_1_AN_grpmax_joint=68008;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29854323 chr22_29854323_A_T A T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=5.154;CADD_Rawscore=0.470316;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5752972|||||||||||||||||||||chr22:g.29854323A>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=95257;gnomADv4_1_AC_joint_XX=48964;gnomADv4_1_AC_joint_XY=46293;gnomADv4_1_AF_grpmax_joint=0.799071;gnomADv4_1_AF_joint=0.626493;gnomADv4_1_AF_joint_XX=0.629908;gnomADv4_1_AF_joint_XY=0.622921;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=30369;gnomADv4_1_nhomalt_joint_XX=15745;gnomADv4_1_nhomalt_joint_XY=14624;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29855080 chr22_29855080_G_A G A 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.789;CADD_Rawscore=-0.078585;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs9614083|||||||||||||||||||||chr22:g.29855080G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=23472;gnomADv4_1_AC_joint_XX=11933;gnomADv4_1_AC_joint_XY=11539;gnomADv4_1_AF_grpmax_joint=0.244962;gnomADv4_1_AF_joint=0.15499;gnomADv4_1_AF_joint_XX=0.153962;gnomADv4_1_AF_joint_XY=0.156067;gnomADv4_1_AN_grpmax_joint=4764;gnomADv4_1_AN_joint=151442;gnomADv4_1_AN_joint_XX=77506;gnomADv4_1_AN_joint_XY=73936;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1901;gnomADv4_1_nhomalt_joint_XX=978;gnomADv4_1_nhomalt_joint_XY=923;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29855138 chr22_29855138_CT_C CT C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.256;CADDIndel_Rawscore=-0.362971;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs58063509|||||||||||||||||||||chr22:g.29855151del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=60683;gnomADv4_1_AC_joint_XX=32079;gnomADv4_1_AC_joint_XY=28604;gnomADv4_1_AF_grpmax_joint=0.468199;gnomADv4_1_AF_joint=0.422678;gnomADv4_1_AF_joint_XX=0.433067;gnomADv4_1_AF_joint_XY=0.411604;gnomADv4_1_AN_grpmax_joint=4874;gnomADv4_1_AN_joint=143568;gnomADv4_1_AN_joint_XX=74074;gnomADv4_1_AN_joint_XY=69494;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12751;gnomADv4_1_nhomalt_joint_XX=6896;gnomADv4_1_nhomalt_joint_XY=5855;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29855191 chr22_29855191_A_G A G 57 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.763;CADD_Rawscore=-0.087033;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5763555|||||||||||||||||||||chr22:g.29855191A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=94643;gnomADv4_1_AC_joint_XX=48709;gnomADv4_1_AC_joint_XY=45934;gnomADv4_1_AF_grpmax_joint=0.801016;gnomADv4_1_AF_joint=0.628298;gnomADv4_1_AF_joint_XX=0.631109;gnomADv4_1_AF_joint_XY=0.625344;gnomADv4_1_AN_grpmax_joint=5116;gnomADv4_1_AN_joint=150634;gnomADv4_1_AN_joint_XX=77180;gnomADv4_1_AN_joint_XY=73454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=30181;gnomADv4_1_nhomalt_joint_XX=15665;gnomADv4_1_nhomalt_joint_XY=14516;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29855483 chr22_29855483_C_T C T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.383;CADD_Rawscore=0.310134;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs57653653|||||||||||||||||||||chr22:g.29855483C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=23525;gnomADv4_1_AC_joint_XX=11971;gnomADv4_1_AC_joint_XY=11554;gnomADv4_1_AF_grpmax_joint=0.24368;gnomADv4_1_AF_joint=0.154534;gnomADv4_1_AF_joint_XX=0.153833;gnomADv4_1_AF_joint_XY=0.155266;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152232;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1902;gnomADv4_1_nhomalt_joint_XX=980;gnomADv4_1_nhomalt_joint_XY=922;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29857267 chr22_29857267_G_T G T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.769;CADD_Rawscore=-0.085021;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs4993442|||||||||||||||||||||chr22:g.29857267G>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=120463;gnomADv4_1_AC_joint_XX=61811;gnomADv4_1_AC_joint_XY=58652;gnomADv4_1_AF_grpmax_joint=0.918721;gnomADv4_1_AF_joint=0.791738;gnomADv4_1_AF_joint_XX=0.794588;gnomADv4_1_AF_joint_XY=0.788757;gnomADv4_1_AN_grpmax_joint=5192;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=48240;gnomADv4_1_nhomalt_joint_XX=24886;gnomADv4_1_nhomalt_joint_XY=23354;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29857389 chr22_29857389_C_CT C CT 48 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=4.199;CADDIndel_Rawscore=0.382884;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5844878|||||||||||||||||||||chr22:g.29857400dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=145263;gnomADv4_1_AC_joint_XX=74917;gnomADv4_1_AC_joint_XY=70346;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.991963;gnomADv4_1_AF_joint_XX=0.99283;gnomADv4_1_AF_joint_XY=0.99104;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=146440;gnomADv4_1_AN_joint_XX=75458;gnomADv4_1_AN_joint_XY=70982;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=72050;gnomADv4_1_nhomalt_joint_XX=37191;gnomADv4_1_nhomalt_joint_XY=34859;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29858186 chr22_29858186_C_T C T 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=23;CADD_PHREDscore=6.65;CADD_Rawscore=0.620514;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs9614084|||||||||||||||||||||chr22:g.29858186C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=52652;gnomADv4_1_AC_joint_XX=27496;gnomADv4_1_AC_joint_XY=25156;gnomADv4_1_AF_grpmax_joint=0.604081;gnomADv4_1_AF_joint=0.35934;gnomADv4_1_AF_joint_XX=0.366926;gnomADv4_1_AF_joint_XY=0.3514;gnomADv4_1_AN_grpmax_joint=4852;gnomADv4_1_AN_joint=146524;gnomADv4_1_AN_joint_XX=74936;gnomADv4_1_AN_joint_XY=71588;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10586;gnomADv4_1_nhomalt_joint_XX=5697;gnomADv4_1_nhomalt_joint_XY=4889;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29858218 chr22_29858218_A_G A G 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=23;CADD_PHREDscore=5.954;CADD_Rawscore=0.548516;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs8142188|||||||||||||||||||||chr22:g.29858218A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=91941;gnomADv4_1_AC_joint_XX=47356;gnomADv4_1_AC_joint_XY=44585;gnomADv4_1_AF_grpmax_joint=0.803293;gnomADv4_1_AF_joint=0.630502;gnomADv4_1_AF_joint_XX=0.633966;gnomADv4_1_AF_joint_XY=0.626863;gnomADv4_1_AN_grpmax_joint=4738;gnomADv4_1_AN_joint=145822;gnomADv4_1_AN_joint_XX=74698;gnomADv4_1_AN_joint_XY=71124;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=29002;gnomADv4_1_nhomalt_joint_XX=15073;gnomADv4_1_nhomalt_joint_XY=13929;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29858760 chr22_29858760_C_T C T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=4.448;CADD_Rawscore=0.405237;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs954616426|||||||||||||||||||||chr22:g.29858760C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=221;gnomADv4_1_AC_joint_XX=102;gnomADv4_1_AC_joint_XY=119;gnomADv4_1_AF_grpmax_joint=0.0102041;gnomADv4_1_AF_joint=0.00145051;gnomADv4_1_AF_joint_XX=0.00131001;gnomADv4_1_AF_joint_XY=0.00159736;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152360;gnomADv4_1_AN_joint_XX=77862;gnomADv4_1_AN_joint_XY=74498;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29859352 chr22_29859352_G_A G A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=3.694;CADD_Rawscore=0.338057;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs140800292|||||||||||||||||||||chr22:g.29859352G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=9226;gnomADv4_1_AC_joint_XX=4874;gnomADv4_1_AC_joint_XY=4352;gnomADv4_1_AF_grpmax_joint=0.0958904;gnomADv4_1_AF_joint=0.0609387;gnomADv4_1_AF_joint_XX=0.0629407;gnomADv4_1_AF_joint_XY=0.0588426;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151398;gnomADv4_1_AN_joint_XX=77438;gnomADv4_1_AN_joint_XY=73960;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=369;gnomADv4_1_nhomalt_joint_XX=209;gnomADv4_1_nhomalt_joint_XY=160;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29859429 chr22_29859429_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.727;CADD_Rawscore=0.125122;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs12172419|||||||||||||||||||||chr22:g.29859429G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=7533;gnomADv4_1_AC_joint_XX=3616;gnomADv4_1_AC_joint_XY=3917;gnomADv4_1_AF_grpmax_joint=0.17013;gnomADv4_1_AF_joint=0.0556146;gnomADv4_1_AF_joint_XX=0.0517444;gnomADv4_1_AF_joint_XY=0.0597395;gnomADv4_1_AN_grpmax_joint=4138;gnomADv4_1_AN_joint=135450;gnomADv4_1_AN_joint_XX=69882;gnomADv4_1_AN_joint_XY=65568;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=291;gnomADv4_1_nhomalt_joint_XX=132;gnomADv4_1_nhomalt_joint_XY=159;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29859483 chr22_29859483_G_GATATATATATATATATATATATATATATAT;chr22_29859483_G_GATATATATATATATATATATATATAT;chr22_29859483_G_GATATATATATATATATATATATATATAT;chr22_29859483_G_GATATATATATATATATATATATATATATATAT G GATATATATATATATATATATATATATATAT 36 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=25;CADDIndel_PHREDscore=0.213;CADDIndel_Rawscore=-0.410616;CSQ=ATATATATATATATATATATATATATATAT|intergenic_variant|MODIFIER|||||||||||||||rs34568360|||||||||||||||||||||chr22:g.29859497_29859498insATATATATATATATATATATATATATATAT|||||||||||||;TYPE=INDEL;VEP_Allele=ATATATATATATATATATATATATATATAT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=3481;gnomADv4_1_AC_joint_XX=1927;gnomADv4_1_AC_joint_XY=1554;gnomADv4_1_AF_grpmax_joint=0.0624019;gnomADv4_1_AF_joint=0.0325248;gnomADv4_1_AF_joint_XX=0.0341086;gnomADv4_1_AF_joint_XY=0.030754;gnomADv4_1_AN_grpmax_joint=2548;gnomADv4_1_AN_joint=107026;gnomADv4_1_AN_joint_XX=56496;gnomADv4_1_AN_joint_XY=50530;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=247;gnomADv4_1_nhomalt_joint_XX=141;gnomADv4_1_nhomalt_joint_XY=106;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29859483 chr22_29859483_G_GATATATATATATATATATATATATATATAT;chr22_29859483_G_GATATATATATATATATATATATATAT;chr22_29859483_G_GATATATATATATATATATATATATATAT;chr22_29859483_G_GATATATATATATATATATATATATATATATAT G GATATATATATATATATATATATATAT 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=24;CADDIndel_PHREDscore=0.229;CADDIndel_Rawscore=-0.392118;CSQ=ATATATATATATATATATATATATAT|intergenic_variant|MODIFIER|||||||||||||||rs34568360|||||||||||||||||||||chr22:g.29859497_29859498insATATATATATATATATATATATATAT|||||||||||||;TYPE=INDEL;VEP_Allele=ATATATATATATATATATATATATAT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=7335;gnomADv4_1_AC_joint_XX=4160;gnomADv4_1_AC_joint_XY=3175;gnomADv4_1_AF_grpmax_joint=0.090667;gnomADv4_1_AF_joint=0.0686438;gnomADv4_1_AF_joint_XX=0.0737118;gnomADv4_1_AF_joint_XY=0.062971;gnomADv4_1_AN_grpmax_joint=51066;gnomADv4_1_AN_joint=106856;gnomADv4_1_AN_joint_XX=56436;gnomADv4_1_AN_joint_XY=50420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=692;gnomADv4_1_nhomalt_joint_XX=407;gnomADv4_1_nhomalt_joint_XY=285;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29859483 chr22_29859483_G_GATATATATATATATATATATATATATATAT;chr22_29859483_G_GATATATATATATATATATATATATAT;chr22_29859483_G_GATATATATATATATATATATATATATAT;chr22_29859483_G_GATATATATATATATATATATATATATATATAT G GATATATATATATATATATATATATATAT 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=36;CADDIndel_PHREDscore=0.22;CADDIndel_Rawscore=-0.401572;CSQ=ATATATATATATATATATATATATATAT|intergenic_variant|MODIFIER|||||||||||||||rs34568360|||||||||||||||||||||chr22:g.29859497_29859498insATATATATATATATATATATATATATAT|||||||||||||;TYPE=INDEL;VEP_Allele=ATATATATATATATATATATATATATAT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=4006;gnomADv4_1_AC_joint_XX=2283;gnomADv4_1_AC_joint_XY=1723;gnomADv4_1_AF_grpmax_joint=0.0536965;gnomADv4_1_AF_joint=0.0373736;gnomADv4_1_AF_joint_XX=0.0403286;gnomADv4_1_AF_joint_XY=0.0340662;gnomADv4_1_AN_grpmax_joint=2570;gnomADv4_1_AN_joint=107188;gnomADv4_1_AN_joint_XX=56610;gnomADv4_1_AN_joint_XY=50578;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=266;gnomADv4_1_nhomalt_joint_XX=150;gnomADv4_1_nhomalt_joint_XY=116;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29859483 chr22_29859483_G_GATATATATATATATATATATATATATATAT;chr22_29859483_G_GATATATATATATATATATATATATAT;chr22_29859483_G_GATATATATATATATATATATATATATAT;chr22_29859483_G_GATATATATATATATATATATATATATATATAT G GATATATATATATATATATATATATATATATAT 36 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=19;CADDIndel_PHREDscore=0.206;CADDIndel_Rawscore=-0.41938;CSQ=ATATATATATATATATATATATATATATATAT|intergenic_variant|MODIFIER|||||||||||||||rs34568360|||||||||||||||||||||chr22:g.29859497_29859498insATATATATATATATATATATATATATATATAT|||||||||||||;TYPE=INDEL;VEP_Allele=ATATATATATATATATATATATATATATATAT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=1969;gnomADv4_1_AC_joint_XX=1134;gnomADv4_1_AC_joint_XY=835;gnomADv4_1_AF_grpmax_joint=0.0406886;gnomADv4_1_AF_joint=0.0183494;gnomADv4_1_AF_joint_XX=0.0200247;gnomADv4_1_AF_joint_XY=0.0164772;gnomADv4_1_AN_grpmax_joint=2556;gnomADv4_1_AN_joint=107306;gnomADv4_1_AN_joint_XX=56630;gnomADv4_1_AN_joint_XY=50676;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=101;gnomADv4_1_nhomalt_joint_XX=60;gnomADv4_1_nhomalt_joint_XY=41;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29859691 chr22_29859691_A_AC A AC 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.764;CADDIndel_Rawscore=-0.086652;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs34265297|||||||||||||||||||||chr22:g.29859698dup|||||||||||||;TYPE=INDEL;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=105736;gnomADv4_1_AC_joint_XX=54322;gnomADv4_1_AC_joint_XY=51414;gnomADv4_1_AF_grpmax_joint=0.845318;gnomADv4_1_AF_joint=0.70409;gnomADv4_1_AF_joint_XX=0.705847;gnomADv4_1_AF_joint_XY=0.702243;gnomADv4_1_AN_grpmax_joint=5062;gnomADv4_1_AN_joint=150174;gnomADv4_1_AN_joint_XX=76960;gnomADv4_1_AN_joint_XY=73214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=37695;gnomADv4_1_nhomalt_joint_XX=19449;gnomADv4_1_nhomalt_joint_XY=18246;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29860597 chr22_29860597_T_C T C 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=3.619;CADD_Rawscore=0.331357;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs773954212|||||||||||||||||||||chr22:g.29860597T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=108;gnomADv4_1_AC_joint_XX=53;gnomADv4_1_AC_joint_XY=55;gnomADv4_1_AF_grpmax_joint=0.000191373;gnomADv4_1_AF_joint=0.000712025;gnomADv4_1_AF_joint_XX=0.000683113;gnomADv4_1_AF_joint_XY=0.0007423;gnomADv4_1_AN_grpmax_joint=67930;gnomADv4_1_AN_joint=151680;gnomADv4_1_AN_joint_XX=77586;gnomADv4_1_AN_joint_XY=74094;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29860949 chr22_29860949_G_A G A 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.404;CADD_Rawscore=-0.246837;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs7287434|||||||||||||||||||||chr22:g.29860949G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38586;gnomADv4_1_AC_joint_XX=20435;gnomADv4_1_AC_joint_XY=18151;gnomADv4_1_AF_grpmax_joint=0.364152;gnomADv4_1_AF_joint=0.254253;gnomADv4_1_AF_joint_XX=0.263263;gnomADv4_1_AF_joint_XY=0.244821;gnomADv4_1_AN_grpmax_joint=67892;gnomADv4_1_AN_joint=151762;gnomADv4_1_AN_joint_XX=77622;gnomADv4_1_AN_joint_XY=74140;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6071;gnomADv4_1_nhomalt_joint_XX=3361;gnomADv4_1_nhomalt_joint_XY=2710;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29861044 chr22_29861044_C_G C G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.354;CADD_Rawscore=0.207455;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs4630869|||||||||||||||||||||chr22:g.29861044C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=53635;gnomADv4_1_AC_joint_XX=27481;gnomADv4_1_AC_joint_XY=26154;gnomADv4_1_AF_grpmax_joint=0.715337;gnomADv4_1_AF_joint=0.352871;gnomADv4_1_AF_joint_XX=0.353617;gnomADv4_1_AF_joint_XY=0.352091;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=151996;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10427;gnomADv4_1_nhomalt_joint_XX=5404;gnomADv4_1_nhomalt_joint_XY=5023;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29861100 chr22_29861100_C_T C T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.226;CADD_Rawscore=0.035312;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs2349227|||||||||||||||||||||chr22:g.29861100C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=53649;gnomADv4_1_AC_joint_XX=27474;gnomADv4_1_AC_joint_XY=26175;gnomADv4_1_AF_grpmax_joint=0.713483;gnomADv4_1_AF_joint=0.352819;gnomADv4_1_AF_joint_XX=0.353463;gnomADv4_1_AF_joint_XY=0.352146;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74330;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10430;gnomADv4_1_nhomalt_joint_XX=5399;gnomADv4_1_nhomalt_joint_XY=5031;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29862368 chr22_29862368_A_G A G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=6.372;CADD_Rawscore=0.591356;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5763559|||||||||||||||||||||chr22:g.29862368A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=53784;gnomADv4_1_AC_joint_XX=27551;gnomADv4_1_AC_joint_XY=26233;gnomADv4_1_AF_grpmax_joint=0.716525;gnomADv4_1_AF_joint=0.353893;gnomADv4_1_AF_joint_XX=0.35449;gnomADv4_1_AF_joint_XY=0.353268;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=151978;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10464;gnomADv4_1_nhomalt_joint_XX=5418;gnomADv4_1_nhomalt_joint_XY=5046;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29862778 chr22_29862778_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.312;CADD_Rawscore=-0.311895;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5763560|||||||||||||||||||||chr22:g.29862778A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=140475;gnomADv4_1_AC_joint_XX=71727;gnomADv4_1_AC_joint_XY=68748;gnomADv4_1_AF_grpmax_joint=0.992849;gnomADv4_1_AF_joint=0.922975;gnomADv4_1_AF_joint_XX=0.922036;gnomADv4_1_AF_joint_XY=0.923958;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74406;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64882;gnomADv4_1_nhomalt_joint_XX=33102;gnomADv4_1_nhomalt_joint_XY=31780;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29863353 chr22_29863353_T_C T C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.21;CADD_Rawscore=0.031785;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5997546|||||||||||||||||||||chr22:g.29863353T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=58766;gnomADv4_1_AC_joint_XX=30199;gnomADv4_1_AC_joint_XY=28567;gnomADv4_1_AF_grpmax_joint=0.716221;gnomADv4_1_AF_joint=0.386659;gnomADv4_1_AF_joint_XX=0.388652;gnomADv4_1_AF_joint_XY=0.384575;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151984;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11820;gnomADv4_1_nhomalt_joint_XX=6127;gnomADv4_1_nhomalt_joint_XY=5693;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29863619 chr22_29863619_A_C A C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.206;CADD_Rawscore=0.383539;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs9614086|||||||||||||||||||||chr22:g.29863619A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=56941;gnomADv4_1_AC_joint_XX=28863;gnomADv4_1_AC_joint_XY=28078;gnomADv4_1_AF_grpmax_joint=0.557823;gnomADv4_1_AF_joint=0.374632;gnomADv4_1_AF_joint_XX=0.371372;gnomADv4_1_AF_joint_XY=0.378043;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11177;gnomADv4_1_nhomalt_joint_XX=5676;gnomADv4_1_nhomalt_joint_XY=5501;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29864088 chr22_29864088_G_GC G GC 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=1.771;CADDIndel_Rawscore=0.131833;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs57413962|||||||||||||||||||||chr22:g.29864090dup|||||||||||||;TYPE=INDEL;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=152044;gnomADv4_1_AC_joint_XX=77746;gnomADv4_1_AC_joint_XY=74298;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68022;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76022;gnomADv4_1_nhomalt_joint_XX=38873;gnomADv4_1_nhomalt_joint_XY=37149;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29864319 chr22_29864319_AT_A AT A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.372;CADDIndel_Rawscore=-0.267167;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs377745127|||||||||||||||||||||chr22:g.29864336del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=8638;gnomADv4_1_AC_joint_XX=4169;gnomADv4_1_AC_joint_XY=4469;gnomADv4_1_AF_grpmax_joint=0.167732;gnomADv4_1_AF_joint=0.0622307;gnomADv4_1_AF_joint_XX=0.0581386;gnomADv4_1_AF_joint_XY=0.0666041;gnomADv4_1_AN_grpmax_joint=4382;gnomADv4_1_AN_joint=138806;gnomADv4_1_AN_joint_XX=71708;gnomADv4_1_AN_joint_XY=67098;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=297;gnomADv4_1_nhomalt_joint_XX=132;gnomADv4_1_nhomalt_joint_XY=165;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29864820 chr22_29864820_A_C A C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=11.27;CADD_Rawscore=1.08832;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs9608819|||||||||||||||||||||chr22:g.29864820A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=56567;gnomADv4_1_AC_joint_XX=28663;gnomADv4_1_AC_joint_XY=27904;gnomADv4_1_AF_grpmax_joint=0.557823;gnomADv4_1_AF_joint=0.373114;gnomADv4_1_AF_joint_XX=0.369597;gnomADv4_1_AF_joint_XY=0.376796;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151608;gnomADv4_1_AN_joint_XX=77552;gnomADv4_1_AN_joint_XY=74056;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11063;gnomADv4_1_nhomalt_joint_XX=5618;gnomADv4_1_nhomalt_joint_XY=5445;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29865230 chr22_29865230_A_G A G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.67;CADD_Rawscore=0.241706;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs9625870|||||||||||||||||||||chr22:g.29865230A>G|||1||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=58062;gnomADv4_1_AC_joint_XX=29436;gnomADv4_1_AC_joint_XY=28626;gnomADv4_1_AF_grpmax_joint=0.557823;gnomADv4_1_AF_joint=0.381731;gnomADv4_1_AF_joint_XX=0.378569;gnomADv4_1_AF_joint_XY=0.385038;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11496;gnomADv4_1_nhomalt_joint_XX=5840;gnomADv4_1_nhomalt_joint_XY=5656;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29865507 chr22_29865507_C_CT C CT 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=18;CADDIndel_PHREDscore=2.867;CADDIndel_Rawscore=0.261536;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs71198503|||||||||||||||||||||chr22:g.29865530dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=65526;gnomADv4_1_AC_joint_XX=36772;gnomADv4_1_AC_joint_XY=28754;gnomADv4_1_AF_grpmax_joint=0.81577;gnomADv4_1_AF_joint=0.796707;gnomADv4_1_AF_joint_XX=0.797311;gnomADv4_1_AF_joint_XY=0.795936;gnomADv4_1_AN_grpmax_joint=47712;gnomADv4_1_AN_joint=82246;gnomADv4_1_AN_joint_XX=46120;gnomADv4_1_AN_joint_XY=36126;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=27250;gnomADv4_1_nhomalt_joint_XX=15229;gnomADv4_1_nhomalt_joint_XY=12021;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29865882 chr22_29865882_G_A G A 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.185;CADD_Rawscore=-0.44734;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs9614087|||||||||||||||||||||chr22:g.29865882G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=23247;gnomADv4_1_AC_joint_XX=11818;gnomADv4_1_AC_joint_XY=11429;gnomADv4_1_AF_grpmax_joint=0.244394;gnomADv4_1_AF_joint=0.153039;gnomADv4_1_AF_joint_XX=0.152145;gnomADv4_1_AF_joint_XY=0.153976;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=151902;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1874;gnomADv4_1_nhomalt_joint_XX=967;gnomADv4_1_nhomalt_joint_XY=907;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29867037 chr22_29867037_A_AAAAATAAAAT;chr22_29867037_A_AAAAATAAAATAAAAT;chr22_29867037_A_AAAAAT A AAAAATAAAAT 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADDIndel_PHREDscore=1.263;CADDIndel_Rawscore=0.042899;CSQ=AAAATAAAAT|intergenic_variant|MODIFIER|||||||||||||||rs56831754|||||||||||||||||||||chr22:g.29867075_29867084dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAATAAAAT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=21567;gnomADv4_1_AC_joint_XX=11212;gnomADv4_1_AC_joint_XY=10355;gnomADv4_1_AF_grpmax_joint=0.246028;gnomADv4_1_AF_joint=0.164165;gnomADv4_1_AF_joint_XX=0.162131;gnomADv4_1_AF_joint_XY=0.166426;gnomADv4_1_AN_grpmax_joint=3776;gnomADv4_1_AN_joint=131374;gnomADv4_1_AN_joint_XX=69154;gnomADv4_1_AN_joint_XY=62220;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2148;gnomADv4_1_nhomalt_joint_XX=1080;gnomADv4_1_nhomalt_joint_XY=1068;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29867037 chr22_29867037_A_AAAAATAAAAT;chr22_29867037_A_AAAAATAAAATAAAAT;chr22_29867037_A_AAAAAT A AAAAATAAAATAAAAT 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADDIndel_PHREDscore=1.15;CADDIndel_Rawscore=0.018487;CSQ=AAAATAAAATAAAAT|intergenic_variant|MODIFIER|||||||||||||||rs56831754|||||||||||||||||||||chr22:g.29867070_29867084dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAATAAAATAAAAT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37263;gnomADv4_1_AC_joint_XX=19396;gnomADv4_1_AC_joint_XY=17867;gnomADv4_1_AF_grpmax_joint=0.423358;gnomADv4_1_AF_joint=0.283909;gnomADv4_1_AF_joint_XX=0.280727;gnomADv4_1_AF_joint_XY=0.287445;gnomADv4_1_AN_grpmax_joint=274;gnomADv4_1_AN_joint=131250;gnomADv4_1_AN_joint_XX=69092;gnomADv4_1_AN_joint_XY=62158;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5949;gnomADv4_1_nhomalt_joint_XX=3073;gnomADv4_1_nhomalt_joint_XY=2876;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29867037 chr22_29867037_A_AAAAATAAAAT;chr22_29867037_A_AAAAATAAAATAAAAT;chr22_29867037_A_AAAAAT A AAAAAT 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADDIndel_PHREDscore=1.379;CADDIndel_Rawscore=0.066008;CSQ=AAAAT|intergenic_variant|MODIFIER|||||||||||||||rs56831754|||||||||||||||||||||chr22:g.29867080_29867084dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAAT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=44844;gnomADv4_1_AC_joint_XX=24180;gnomADv4_1_AC_joint_XY=20664;gnomADv4_1_AF_grpmax_joint=0.554865;gnomADv4_1_AF_joint=0.341492;gnomADv4_1_AF_joint_XX=0.349918;gnomADv4_1_AF_joint_XY=0.332133;gnomADv4_1_AN_grpmax_joint=4502;gnomADv4_1_AN_joint=131318;gnomADv4_1_AN_joint_XX=69102;gnomADv4_1_AN_joint_XY=62216;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8107;gnomADv4_1_nhomalt_joint_XX=4449;gnomADv4_1_nhomalt_joint_XY=3658;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29867682 chr22_29867682_T_C T C 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=4.645;CADD_Rawscore=0.423117;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs9614089|||||||||||||||||||||chr22:g.29867682T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=24451;gnomADv4_1_AC_joint_XX=12464;gnomADv4_1_AC_joint_XY=11987;gnomADv4_1_AF_grpmax_joint=0.246993;gnomADv4_1_AF_joint=0.160722;gnomADv4_1_AF_joint_XX=0.160354;gnomADv4_1_AF_joint_XY=0.161107;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152132;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2069;gnomADv4_1_nhomalt_joint_XX=1076;gnomADv4_1_nhomalt_joint_XY=993;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29868285 chr22_29868285_G_A G A 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.986;CADD_Rawscore=-0.021562;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5752973|||||||||||||||||||||chr22:g.29868285G>A|||1||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=59407;gnomADv4_1_AC_joint_XX=30544;gnomADv4_1_AC_joint_XY=28863;gnomADv4_1_AF_grpmax_joint=0.711933;gnomADv4_1_AF_joint=0.391371;gnomADv4_1_AF_joint_XX=0.393426;gnomADv4_1_AF_joint_XY=0.38922;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151792;gnomADv4_1_AN_joint_XX=77636;gnomADv4_1_AN_joint_XY=74156;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12039;gnomADv4_1_nhomalt_joint_XX=6232;gnomADv4_1_nhomalt_joint_XY=5807;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29869033 chr22_29869033_C_T C T 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=3.788;CADD_Rawscore=0.346445;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs6006288|||||||||||||||||||||chr22:g.29869033C>T|||1||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=42128;gnomADv4_1_AC_joint_XX=22365;gnomADv4_1_AC_joint_XY=19763;gnomADv4_1_AF_grpmax_joint=0.599874;gnomADv4_1_AF_joint=0.295055;gnomADv4_1_AF_joint_XX=0.301887;gnomADv4_1_AF_joint_XY=0.287688;gnomADv4_1_AN_grpmax_joint=4776;gnomADv4_1_AN_joint=142780;gnomADv4_1_AN_joint_XX=74084;gnomADv4_1_AN_joint_XY=68696;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7246;gnomADv4_1_nhomalt_joint_XX=3962;gnomADv4_1_nhomalt_joint_XY=3284;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29869056 chr22_29869056_C_CT C CT 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=14;CADDIndel_PHREDscore=3.111;CADDIndel_Rawscore=0.28503;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs1161206738|||||||||||||||||||||chr22:g.29869084dup|||||||||||||;TYPE=INDEL;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=10817;gnomADv4_1_AC_joint_XX=6407;gnomADv4_1_AC_joint_XY=4410;gnomADv4_1_AF_grpmax_joint=0.339661;gnomADv4_1_AF_joint=0.27753;gnomADv4_1_AF_joint_XX=0.28837;gnomADv4_1_AF_joint_XY=0.263158;gnomADv4_1_AN_grpmax_joint=23020;gnomADv4_1_AN_joint=38976;gnomADv4_1_AN_joint_XX=22218;gnomADv4_1_AN_joint_XY=16758;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3697;gnomADv4_1_nhomalt_joint_XX=2207;gnomADv4_1_nhomalt_joint_XY=1490;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29869355 chr22_29869355_C_T C T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.913;CADD_Rawscore=0.152145;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5997549|||||||||||||||||||||chr22:g.29869355C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=44367;gnomADv4_1_AC_joint_XX=23153;gnomADv4_1_AC_joint_XY=21214;gnomADv4_1_AF_grpmax_joint=0.603891;gnomADv4_1_AF_joint=0.292123;gnomADv4_1_AF_joint_XX=0.29811;gnomADv4_1_AF_joint_XY=0.285857;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151878;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=74212;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7607;gnomADv4_1_nhomalt_joint_XX=4080;gnomADv4_1_nhomalt_joint_XY=3527;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29870551 chr22_29870551_G_A G A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.305;CADD_Rawscore=0.051666;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs113011296|||||||||||||||||||||chr22:g.29870551G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=7303;gnomADv4_1_AC_joint_XX=3572;gnomADv4_1_AC_joint_XY=3731;gnomADv4_1_AF_grpmax_joint=0.233651;gnomADv4_1_AF_joint=0.0689339;gnomADv4_1_AF_joint_XX=0.0635859;gnomADv4_1_AF_joint_XY=0.0749709;gnomADv4_1_AN_grpmax_joint=2936;gnomADv4_1_AN_joint=105942;gnomADv4_1_AN_joint_XX=56176;gnomADv4_1_AN_joint_XY=49766;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=298;gnomADv4_1_nhomalt_joint_XX=136;gnomADv4_1_nhomalt_joint_XY=162;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29870555 chr22_29870555_C_CA C CA 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=43;CADDIndel_PHREDscore=0.846;CADDIndel_Rawscore=-0.060718;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs748208253|||||||||||||||||||||chr22:g.29870573dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=24178;gnomADv4_1_AC_joint_XX=12855;gnomADv4_1_AC_joint_XY=11323;gnomADv4_1_AF_grpmax_joint=0.467446;gnomADv4_1_AF_joint=0.372382;gnomADv4_1_AF_joint_XX=0.373236;gnomADv4_1_AF_joint_XY=0.371416;gnomADv4_1_AN_grpmax_joint=20182;gnomADv4_1_AN_joint=64928;gnomADv4_1_AN_joint_XX=34442;gnomADv4_1_AN_joint_XY=30486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2855;gnomADv4_1_nhomalt_joint_XX=1528;gnomADv4_1_nhomalt_joint_XY=1327;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29870573 chr22_29870574_C_A;chr22_29870573_AC_A AC A 44 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=13;CADDIndel_PHREDscore=0.196;CADDIndel_Rawscore=-0.432669;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs67566594|||||||||||||||||||||chr22:g.29870574del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=48305;gnomADv4_1_AC_joint_XX=25638;gnomADv4_1_AC_joint_XY=22667;gnomADv4_1_AF_grpmax_joint=0.674212;gnomADv4_1_AF_joint=0.38732;gnomADv4_1_AF_joint_XX=0.390907;gnomADv4_1_AF_joint_XY=0.383342;gnomADv4_1_AN_grpmax_joint=3932;gnomADv4_1_AN_joint=124716;gnomADv4_1_AN_joint_XX=65586;gnomADv4_1_AN_joint_XY=59130;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9381;gnomADv4_1_nhomalt_joint_XX=5000;gnomADv4_1_nhomalt_joint_XY=4381;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29870574 chr22_29870574_C_A;chr22_29870573_AC_A C A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=44;CADD_PHREDscore=0.468;CADD_Rawscore=-0.209809;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs6006291|||||||||||||||||||||chr22:g.29870574C>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=66573;gnomADv4_1_AC_joint_XX=34666;gnomADv4_1_AC_joint_XY=31907;gnomADv4_1_AF_grpmax_joint=0.715869;gnomADv4_1_AF_joint=0.665371;gnomADv4_1_AF_joint_XX=0.662652;gnomADv4_1_AF_joint_XY=0.668349;gnomADv4_1_AN_grpmax_joint=30940;gnomADv4_1_AN_joint=100054;gnomADv4_1_AN_joint_XX=52314;gnomADv4_1_AN_joint_XY=47740;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17251;gnomADv4_1_nhomalt_joint_XX=8894;gnomADv4_1_nhomalt_joint_XY=8357;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29871402 chr22_29871402_C_CA C CA 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.701;CADDIndel_Rawscore=-0.108687;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs10709822|||||||||||||||||||||chr22:g.29871419dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=24215;gnomADv4_1_AC_joint_XX=12610;gnomADv4_1_AC_joint_XY=11605;gnomADv4_1_AF_grpmax_joint=0.257307;gnomADv4_1_AF_joint=0.211123;gnomADv4_1_AF_joint_XX=0.210848;gnomADv4_1_AF_joint_XY=0.211423;gnomADv4_1_AN_grpmax_joint=32366;gnomADv4_1_AN_joint=114696;gnomADv4_1_AN_joint_XX=59806;gnomADv4_1_AN_joint_XY=54890;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2242;gnomADv4_1_nhomalt_joint_XX=1199;gnomADv4_1_nhomalt_joint_XY=1043;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29871997 chr22_29871997_TA_T TA T 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.97;CADDIndel_Rawscore=-0.025729;CSQ=-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_9FT5G|enhancer||||||||||rs78361700|||||||||||||||||||||chr22:g.29872012del|||||||||||||,-|intergenic_variant|MODIFIER|||||||||||||||rs78361700|||||||||||||||||||||chr22:g.29872012del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-;VEP_Feature=ENSR22_9FT5G,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=42540;gnomADv4_1_AC_joint_XX=22462;gnomADv4_1_AC_joint_XY=20078;gnomADv4_1_AF_grpmax_joint=0.608312;gnomADv4_1_AF_joint=0.312312;gnomADv4_1_AF_joint_XX=0.317547;gnomADv4_1_AF_joint_XY=0.306656;gnomADv4_1_AN_grpmax_joint=4764;gnomADv4_1_AN_joint=136210;gnomADv4_1_AN_joint_XX=70736;gnomADv4_1_AN_joint_XY=65474;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6965;gnomADv4_1_nhomalt_joint_XX=3817;gnomADv4_1_nhomalt_joint_XY=3148;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29872060 chr22_29872060_CTTGACCTCTGCAAAAACAA_C CTTGACCTCTGCAAAAACAA C 45 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=14.59;CADDIndel_Rawscore=1.56961;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs71198506|||||||||||||||||||||chr22:g.29872083_29872101del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=139077;gnomADv4_1_AC_joint_XX=71180;gnomADv4_1_AC_joint_XY=67897;gnomADv4_1_AF_grpmax_joint=0.998819;gnomADv4_1_AF_joint=0.923977;gnomADv4_1_AF_joint_XX=0.922499;gnomADv4_1_AF_joint_XY=0.925532;gnomADv4_1_AN_grpmax_joint=5080;gnomADv4_1_AN_joint=150520;gnomADv4_1_AN_joint_XX=77160;gnomADv4_1_AN_joint_XY=73360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64319;gnomADv4_1_nhomalt_joint_XX=32873;gnomADv4_1_nhomalt_joint_XY=31446;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29873918 chr22_29873918_T_A T A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.96;CADD_Rawscore=-0.02828;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs9614090|||||||||||||||||||||chr22:g.29873918T>A|||1||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=62468;gnomADv4_1_AC_joint_XX=32653;gnomADv4_1_AC_joint_XY=29815;gnomADv4_1_AF_grpmax_joint=0.528678;gnomADv4_1_AF_joint=0.411244;gnomADv4_1_AF_joint_XX=0.420537;gnomADv4_1_AF_joint_XY=0.401527;gnomADv4_1_AN_grpmax_joint=67926;gnomADv4_1_AN_joint=151900;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13988;gnomADv4_1_nhomalt_joint_XX=7508;gnomADv4_1_nhomalt_joint_XY=6480;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29875641 chr22_29875641_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=7.659;CADD_Rawscore=0.730741;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5752974|||||||||||||||||||||chr22:g.29875641A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=140403;gnomADv4_1_AC_joint_XX=71653;gnomADv4_1_AC_joint_XY=68750;gnomADv4_1_AF_grpmax_joint=0.999614;gnomADv4_1_AF_joint=0.922199;gnomADv4_1_AF_joint_XX=0.920706;gnomADv4_1_AF_joint_XY=0.923761;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152248;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64817;gnomADv4_1_nhomalt_joint_XX=33032;gnomADv4_1_nhomalt_joint_XY=31785;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29875973 chr22_29875973_A_T A T 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=1.783;CADD_Rawscore=0.133582;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs5763565|||||||||||||||||||||chr22:g.29875973A>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=53536;gnomADv4_1_AC_joint_XX=27418;gnomADv4_1_AC_joint_XY=26118;gnomADv4_1_AF_grpmax_joint=0.71365;gnomADv4_1_AF_joint=0.352053;gnomADv4_1_AF_joint_XX=0.352707;gnomADv4_1_AF_joint_XY=0.35137;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10403;gnomADv4_1_nhomalt_joint_XX=5384;gnomADv4_1_nhomalt_joint_XY=5019;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29877175 chr22_29877175_T_C T C 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.177;CADD_Rawscore=-0.458884;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5763568|||||||||||||||||||||chr22:g.29877175T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=140317;gnomADv4_1_AC_joint_XX=71601;gnomADv4_1_AC_joint_XY=68716;gnomADv4_1_AF_grpmax_joint=0.999614;gnomADv4_1_AF_joint=0.922192;gnomADv4_1_AF_joint_XX=0.920771;gnomADv4_1_AF_joint_XY=0.923677;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64772;gnomADv4_1_nhomalt_joint_XX=33010;gnomADv4_1_nhomalt_joint_XY=31762;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29877585 chr22_29877585_C_T C T 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.933;CADD_Rawscore=-0.03562;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs4823062|||||||||||||||||||||chr22:g.29877585C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=140249;gnomADv4_1_AC_joint_XX=71571;gnomADv4_1_AC_joint_XY=68678;gnomADv4_1_AF_grpmax_joint=0.999612;gnomADv4_1_AF_joint=0.922266;gnomADv4_1_AF_joint_XX=0.92074;gnomADv4_1_AF_joint_XY=0.923861;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64746;gnomADv4_1_nhomalt_joint_XX=32996;gnomADv4_1_nhomalt_joint_XY=31750;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29878346 chr22_29878346_C_G C G 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.411;CADD_Rawscore=-0.242224;CSQ=G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||||||||||rs5752975|4852|1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29878346C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||||||||||rs5752975|4823|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29878346C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||||||||||rs5752975|4867|1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29878346C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||||||||||rs5752975|4828|1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29878346C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||||||||||rs5752975|4923|1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29878346C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||||||||||rs5752975|4851|1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29878346C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||||||||||rs5752975|4833|1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29878346C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||||||||||rs5752975|4828|1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29878346C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||||||||||rs5752975|4828|1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29878346C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||||||||||rs5752975|4828|1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29878346C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59048;gnomADv4_1_AC_joint_XX=30369;gnomADv4_1_AC_joint_XY=28679;gnomADv4_1_AF_grpmax_joint=0.712121;gnomADv4_1_AF_joint=0.389027;gnomADv4_1_AF_joint_XX=0.391232;gnomADv4_1_AF_joint_XY=0.386718;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=151784;gnomADv4_1_AN_joint_XX=77624;gnomADv4_1_AN_joint_XY=74160;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11939;gnomADv4_1_nhomalt_joint_XX=6199;gnomADv4_1_nhomalt_joint_XY=5740;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29878433 chr22_29878433_CT_C CT C 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=0.258;CADDIndel_Rawscore=-0.361233;CSQ=-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||||||||||rs5844880|4764|1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29878450del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||||||||||rs5844880|4735|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29878450del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||||||||||rs5844880|4779|1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29878450del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||||||||||rs5844880|4740|1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29878450del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||||||||||rs5844880|4835|1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29878450del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||||||||||rs5844880|4763|1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29878450del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||||||||||rs5844880|4745|1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29878450del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||||||||||rs5844880|4740|1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29878450del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||||||||||rs5844880|4740|1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29878450del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||||||||||rs5844880|4740|1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29878450del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90189;gnomADv4_1_AC_joint_XX=46839;gnomADv4_1_AC_joint_XY=43350;gnomADv4_1_AF_grpmax_joint=0.919643;gnomADv4_1_AF_joint=0.819274;gnomADv4_1_AF_joint_XX=0.814648;gnomADv4_1_AF_joint_XY=0.824333;gnomADv4_1_AN_grpmax_joint=224;gnomADv4_1_AN_joint=110084;gnomADv4_1_AN_joint_XX=57496;gnomADv4_1_AN_joint_XY=52588;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=35930;gnomADv4_1_nhomalt_joint_XX=18485;gnomADv4_1_nhomalt_joint_XY=17445;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29879179 chr22_29879179_C_T C T 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.348;CADD_Rawscore=-0.284306;CSQ=T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||||||||||rs28595572|4019|1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29879179C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||||||||||rs28595572|3990|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29879179C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||||||||||rs28595572|4034|1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29879179C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||||||||||rs28595572|3995|1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29879179C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||||||||||rs28595572|4090|1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29879179C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||||||||||rs28595572|4018|1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29879179C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||||||||||rs28595572|4000|1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29879179C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||||||||||rs28595572|3995|1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29879179C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||||||||||rs28595572|3995|1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29879179C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||||||||||rs28595572|3995|1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29879179C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23307;gnomADv4_1_AC_joint_XX=11843;gnomADv4_1_AC_joint_XY=11464;gnomADv4_1_AF_grpmax_joint=0.243254;gnomADv4_1_AF_joint=0.153354;gnomADv4_1_AF_joint_XX=0.152455;gnomADv4_1_AF_joint_XY=0.154293;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=151982;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1868;gnomADv4_1_nhomalt_joint_XX=967;gnomADv4_1_nhomalt_joint_XY=901;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29880123 chr22_29880123_CT_C CT C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=1.098;CADDIndel_Rawscore=0.006386;CSQ=-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||||||||||rs111538413|3074|1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29880136del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||||||||||rs111538413|3045|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29880136del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||||||||||rs111538413|3089|1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29880136del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||||||||||rs111538413|3050|1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29880136del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||||||||||rs111538413|3145|1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29880136del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||||||||||rs111538413|3073|1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29880136del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||||||||||rs111538413|3055|1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29880136del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||||||||||rs111538413|3050|1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29880136del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||||||||||rs111538413|3050|1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29880136del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||||||||||rs111538413|3050|1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29880136del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48337;gnomADv4_1_AC_joint_XX=25402;gnomADv4_1_AC_joint_XY=22935;gnomADv4_1_AF_grpmax_joint=0.607567;gnomADv4_1_AF_joint=0.345951;gnomADv4_1_AF_joint_XX=0.353591;gnomADv4_1_AF_joint_XY=0.337866;gnomADv4_1_AN_grpmax_joint=5048;gnomADv4_1_AN_joint=139722;gnomADv4_1_AN_joint_XX=71840;gnomADv4_1_AN_joint_XY=67882;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8195;gnomADv4_1_nhomalt_joint_XX=4435;gnomADv4_1_nhomalt_joint_XY=3760;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29882030 chr22_29882030_C_T C T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.315;CADD_Rawscore=-0.309673;CSQ=T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||||||||||rs4820823|1168|1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29882030C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||||||||||rs4820823|1139|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29882030C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||||||||||rs4820823|1183|1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29882030C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||||||||||rs4820823|1144|1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29882030C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||||||||||rs4820823|1239|1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29882030C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||||||||||rs4820823|1167|1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29882030C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||||||||||rs4820823|1149|1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29882030C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||||||||||rs4820823|1144|1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29882030C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||||||||||rs4820823|1144|1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29882030C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||||||||||rs4820823|1144|1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29882030C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=140505;gnomADv4_1_AC_joint_XX=71692;gnomADv4_1_AC_joint_XY=68813;gnomADv4_1_AF_grpmax_joint=0.999615;gnomADv4_1_AF_joint=0.922264;gnomADv4_1_AF_joint_XX=0.920686;gnomADv4_1_AF_joint_XY=0.923912;gnomADv4_1_AN_grpmax_joint=5196;gnomADv4_1_AN_joint=152348;gnomADv4_1_AN_joint_XX=77868;gnomADv4_1_AN_joint_XY=74480;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64863;gnomADv4_1_nhomalt_joint_XX=33048;gnomADv4_1_nhomalt_joint_XY=31815;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29882679 chr22_29882679_CAAAAAAAAA_C CAAAAAAAAA C 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=.;AF_XY=0.5;AN=4;AN_XX=0;AN_XY=4;AQ=34;CADDIndel_PHREDscore=1.105;CADDIndel_Rawscore=0.008207;CSQ=-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||||||||||rs34396566|510|1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||AAAAAAAAA|AAAAAAAAA||||chr22:g.29882697_29882705del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||||||||||rs34396566|481|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||AAAAAAAAA|AAAAAAAAA||||chr22:g.29882697_29882705del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||||||||||rs34396566|525|1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||AAAAAAAAA|AAAAAAAAA||||chr22:g.29882697_29882705del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||||||||||rs34396566|486|1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||AAAAAAAAA|AAAAAAAAA||||chr22:g.29882697_29882705del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||||||||||rs34396566|581|1||HGNC|HGNC:7451|3||||||||Ensembl||AAAAAAAAA|AAAAAAAAA||||chr22:g.29882697_29882705del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||||||||||rs34396566|509|1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||AAAAAAAAA|AAAAAAAAA||||chr22:g.29882697_29882705del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||||||||||rs34396566|491|1||HGNC|HGNC:7451|4||||||||Ensembl||AAAAAAAAA|AAAAAAAAA||||chr22:g.29882697_29882705del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||||||||||rs34396566|486|1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||AAAAAAAAA|AAAAAAAAA||||chr22:g.29882697_29882705del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||||||||||rs34396566|486|1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||AAAAAAAAA|AAAAAAAAA||||chr22:g.29882697_29882705del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||||||||||rs34396566|486|1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||AAAAAAAAA|AAAAAAAAA||||chr22:g.29882697_29882705del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24971;gnomADv4_1_AC_joint_XX=13852;gnomADv4_1_AC_joint_XY=11119;gnomADv4_1_AF_grpmax_joint=0.465435;gnomADv4_1_AF_joint=0.387303;gnomADv4_1_AF_joint_XX=0.394172;gnomADv4_1_AF_joint_XY=0.379074;gnomADv4_1_AN_grpmax_joint=37408;gnomADv4_1_AN_joint=64474;gnomADv4_1_AN_joint_XX=35142;gnomADv4_1_AN_joint_XY=29332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2627;gnomADv4_1_nhomalt_joint_XX=1468;gnomADv4_1_nhomalt_joint_XY=1159;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29884551 chr22_29884551_CTTT_C CTTT C 24 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=24;CADDIndel_PHREDscore=1.484;CADDIndel_Rawscore=0.085222;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+1219_-459+1221del|||||||rs35960936||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||TTT|TTT|||26|chr22:g.29884578_29884580del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+1219_-138+1221del|||||||rs35960936||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TTT|TTT|||26|chr22:g.29884578_29884580del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+1219_-138+1221del|||||||rs35960936||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||TTT|TTT|||26|chr22:g.29884578_29884580del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+1219_-138+1221del|||||||rs35960936||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||TTT|TTT|||26|chr22:g.29884578_29884580del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+1219_91+1221del|||||||rs35960936||1||HGNC|HGNC:7451|3||||||||Ensembl||TTT|TTT|||26|chr22:g.29884578_29884580del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+1219_-85+1221del|||||||rs35960936||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||TTT|TTT|||26|chr22:g.29884578_29884580del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+1219_181+1221del|||||||rs35960936||1||HGNC|HGNC:7451|4||||||||Ensembl||TTT|TTT|||26|chr22:g.29884578_29884580del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+1219_-138+1221del|||||||rs35960936||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||TTT|TTT|||26|chr22:g.29884578_29884580del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+1219_-138+1221del|||||||rs35960936||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||TTT|TTT|||26|chr22:g.29884578_29884580del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+1219_-138+1221del|||||||rs35960936||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||TTT|TTT|||26|chr22:g.29884578_29884580del|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|33|1|29|-29;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16960;gnomADv4_1_AC_joint_XX=9667;gnomADv4_1_AC_joint_XY=7293;gnomADv4_1_AF_grpmax_joint=0.592288;gnomADv4_1_AF_joint=0.272827;gnomADv4_1_AF_joint_XX=0.277771;gnomADv4_1_AF_joint_XY=0.266538;gnomADv4_1_AN_grpmax_joint=1582;gnomADv4_1_AN_joint=62164;gnomADv4_1_AN_joint_XX=34802;gnomADv4_1_AN_joint_XY=27362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2496;gnomADv4_1_nhomalt_joint_XX=1417;gnomADv4_1_nhomalt_joint_XY=1079;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29887515 chr22_29887515_T_C T C 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.002;CADD_Rawscore=-2.05766;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+4156T>C|||||||rs73161099||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29887515T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+4156T>C|||||||rs73161099||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29887515T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+4156T>C|||||||rs73161099||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29887515T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+4156T>C|||||||rs73161099||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29887515T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+4156T>C|||||||rs73161099||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29887515T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+4156T>C|||||||rs73161099||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29887515T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+4156T>C|||||||rs73161099||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29887515T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+4156T>C|||||||rs73161099||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29887515T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+4156T>C|||||||rs73161099||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29887515T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+4156T>C|||||||rs73161099||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29887515T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-21|14|13|6;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24468;gnomADv4_1_AC_joint_XX=12480;gnomADv4_1_AC_joint_XY=11988;gnomADv4_1_AF_grpmax_joint=0.243781;gnomADv4_1_AF_joint=0.160714;gnomADv4_1_AF_joint_XX=0.160399;gnomADv4_1_AF_joint_XY=0.161042;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152246;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74440;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2060;gnomADv4_1_nhomalt_joint_XX=1074;gnomADv4_1_nhomalt_joint_XY=986;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29887761 chr22_29887761_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=14.8;CADD_Rawscore=1.60831;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+4402G>A|||||||rs16988084||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29887761G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+4402G>A|||||||rs16988084||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29887761G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+4402G>A|||||||rs16988084||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29887761G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+4402G>A|||||||rs16988084||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29887761G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+4402G>A|||||||rs16988084||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29887761G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+4402G>A|||||||rs16988084||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29887761G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+4402G>A|||||||rs16988084||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29887761G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+4402G>A|||||||rs16988084||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29887761G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+4402G>A|||||||rs16988084||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29887761G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+4402G>A|||||||rs16988084||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29887761G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|21|36|36|-45;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24402;gnomADv4_1_AC_joint_XX=12458;gnomADv4_1_AC_joint_XY=11944;gnomADv4_1_AF_grpmax_joint=0.243154;gnomADv4_1_AF_joint=0.160402;gnomADv4_1_AF_joint_XX=0.160223;gnomADv4_1_AF_joint_XY=0.160589;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2056;gnomADv4_1_nhomalt_joint_XX=1074;gnomADv4_1_nhomalt_joint_XY=982;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29888010 chr22_29888010_C_T C T 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=3.534;CADD_Rawscore=0.32375;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+4651C>T|||||||rs61352751||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29888010C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+4651C>T|||||||rs61352751||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29888010C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+4651C>T|||||||rs61352751||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29888010C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+4651C>T|||||||rs61352751||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29888010C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+4651C>T|||||||rs61352751||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29888010C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+4651C>T|||||||rs61352751||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29888010C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+4651C>T|||||||rs61352751||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29888010C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+4651C>T|||||||rs61352751||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29888010C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+4651C>T|||||||rs61352751||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29888010C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+4651C>T|||||||rs61352751||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29888010C>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|24|32|-31|25;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24375;gnomADv4_1_AC_joint_XX=12439;gnomADv4_1_AC_joint_XY=11936;gnomADv4_1_AF_grpmax_joint=0.244278;gnomADv4_1_AF_joint=0.16091;gnomADv4_1_AF_joint_XX=0.160507;gnomADv4_1_AF_joint_XY=0.161332;gnomADv4_1_AN_grpmax_joint=4806;gnomADv4_1_AN_joint=151482;gnomADv4_1_AN_joint_XX=77498;gnomADv4_1_AN_joint_XY=73984;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2058;gnomADv4_1_nhomalt_joint_XX=1075;gnomADv4_1_nhomalt_joint_XY=983;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29888768 chr22_29888768_CT_C;chr22_29888768_CTTTT_C CT C 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=39;CADDIndel_PHREDscore=2.031;CADDIndel_Rawscore=0.168043;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+5432del|||||||rs3049983||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T|||22|chr22:g.29888791del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+5432del|||||||rs3049983||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T|||22|chr22:g.29888791del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+5432del|||||||rs3049983||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T|||22|chr22:g.29888791del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+5432del|||||||rs3049983||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T|||22|chr22:g.29888791del|||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+5432del|||||||rs3049983||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T|||22|chr22:g.29888791del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+5432del|||||||rs3049983||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T|||22|chr22:g.29888791del|||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+5432del|||||||rs3049983||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T|||22|chr22:g.29888791del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+5432del|||||||rs3049983||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T|||22|chr22:g.29888791del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+5432del|||||||rs3049983||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T|||22|chr22:g.29888791del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+5432del|||||||rs3049983||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T|||22|chr22:g.29888791del|||1||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|31|15|-31|-8;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13187;gnomADv4_1_AC_joint_XX=7048;gnomADv4_1_AC_joint_XY=6139;gnomADv4_1_AF_grpmax_joint=0.20729;gnomADv4_1_AF_joint=0.130042;gnomADv4_1_AF_joint_XX=0.128271;gnomADv4_1_AF_joint_XY=0.132135;gnomADv4_1_AN_grpmax_joint=2716;gnomADv4_1_AN_joint=101406;gnomADv4_1_AN_joint_XX=54946;gnomADv4_1_AN_joint_XY=46460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=256;gnomADv4_1_nhomalt_joint_XX=140;gnomADv4_1_nhomalt_joint_XY=116;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29888768 chr22_29888768_CT_C;chr22_29888768_CTTTT_C CTTTT C 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=27;CADDIndel_PHREDscore=2.712;CADDIndel_Rawscore=0.246067;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+5429_-459+5432del|||||||rs3049983||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||TTTT|TTTT|||19|chr22:g.29888788_29888791del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+5429_-138+5432del|||||||rs3049983||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TTTT|TTTT|||19|chr22:g.29888788_29888791del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+5429_-138+5432del|||||||rs3049983||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||TTTT|TTTT|||19|chr22:g.29888788_29888791del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+5429_-138+5432del|||||||rs3049983||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||TTTT|TTTT|||19|chr22:g.29888788_29888791del|||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+5429_91+5432del|||||||rs3049983||1||HGNC|HGNC:7451|3||||||||Ensembl||TTTT|TTTT|||19|chr22:g.29888788_29888791del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+5429_-85+5432del|||||||rs3049983||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||TTTT|TTTT|||19|chr22:g.29888788_29888791del|||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+5429_181+5432del|||||||rs3049983||1||HGNC|HGNC:7451|4||||||||Ensembl||TTTT|TTTT|||19|chr22:g.29888788_29888791del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+5429_-138+5432del|||||||rs3049983||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||TTTT|TTTT|||19|chr22:g.29888788_29888791del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+5429_-138+5432del|||||||rs3049983||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||TTTT|TTTT|||19|chr22:g.29888788_29888791del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+5429_-138+5432del|||||||rs3049983||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||TTTT|TTTT|||19|chr22:g.29888788_29888791del|||1||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|31|22|-31|11;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29456;gnomADv4_1_AC_joint_XX=16122;gnomADv4_1_AC_joint_XY=13334;gnomADv4_1_AF_grpmax_joint=0.531268;gnomADv4_1_AF_joint=0.28971;gnomADv4_1_AF_joint_XX=0.292893;gnomADv4_1_AF_joint_XY=0.285953;gnomADv4_1_AN_grpmax_joint=3518;gnomADv4_1_AN_joint=101674;gnomADv4_1_AN_joint_XX=55044;gnomADv4_1_AN_joint_XY=46630;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3091;gnomADv4_1_nhomalt_joint_XX=1688;gnomADv4_1_nhomalt_joint_XY=1403;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29889050 chr22_29889050_G_A G A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=12.55;CADD_Rawscore=1.24887;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+5691G>A|||||||rs2349228||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29889050G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+5691G>A|||||||rs2349228||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29889050G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+5691G>A|||||||rs2349228||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29889050G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+5691G>A|||||||rs2349228||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29889050G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+5691G>A|||||||rs2349228||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29889050G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+5691G>A|||||||rs2349228||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29889050G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+5691G>A|||||||rs2349228||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29889050G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+5691G>A|||||||rs2349228||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29889050G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+5691G>A|||||||rs2349228||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29889050G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+5691G>A|||||||rs2349228||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29889050G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|-16|29|-42|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=140258;gnomADv4_1_AC_joint_XX=71551;gnomADv4_1_AC_joint_XY=68707;gnomADv4_1_AF_grpmax_joint=0.999614;gnomADv4_1_AF_joint=0.922289;gnomADv4_1_AF_joint_XX=0.920815;gnomADv4_1_AF_joint_XY=0.923829;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64747;gnomADv4_1_nhomalt_joint_XX=32984;gnomADv4_1_nhomalt_joint_XY=31763;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29889284 chr22_29889284_C_CT C CT 22 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=22;CADDIndel_PHREDscore=5.637;CADDIndel_Rawscore=0.516976;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+5947dup|||||||rs71324792||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||22|chr22:g.29889306dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+5947dup|||||||rs71324792||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||22|chr22:g.29889306dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+5947dup|||||||rs71324792||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||22|chr22:g.29889306dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+5947dup|||||||rs71324792||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||22|chr22:g.29889306dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+5947dup|||||||rs71324792||1||HGNC|HGNC:7451|3||||||||Ensembl||||||22|chr22:g.29889306dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+5947dup|||||||rs71324792||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||22|chr22:g.29889306dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+5947dup|||||||rs71324792||1||HGNC|HGNC:7451|4||||||||Ensembl||||||22|chr22:g.29889306dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+5947dup|||||||rs71324792||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||22|chr22:g.29889306dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+5947dup|||||||rs71324792||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||22|chr22:g.29889306dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+5947dup|||||||rs71324792||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||22|chr22:g.29889306dup|||||||||||||;SpliceAI=CT|MTMR3|0.02|0.00|0.00|0.00|25|-8|25|26;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26113;gnomADv4_1_AC_joint_XX=13672;gnomADv4_1_AC_joint_XY=12441;gnomADv4_1_AF_grpmax_joint=0.457542;gnomADv4_1_AF_joint=0.224446;gnomADv4_1_AF_joint_XX=0.221919;gnomADv4_1_AF_joint_XY=0.227291;gnomADv4_1_AN_grpmax_joint=3368;gnomADv4_1_AN_joint=116344;gnomADv4_1_AN_joint_XX=61608;gnomADv4_1_AN_joint_XY=54736;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3571;gnomADv4_1_nhomalt_joint_XX=1825;gnomADv4_1_nhomalt_joint_XY=1746;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29889593 chr22_29889593_G_A G A 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.26;CADD_Rawscore=0.042392;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+6234G>A|||||||rs5752977||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29889593G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+6234G>A|||||||rs5752977||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29889593G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+6234G>A|||||||rs5752977||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29889593G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+6234G>A|||||||rs5752977||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29889593G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+6234G>A|||||||rs5752977||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29889593G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+6234G>A|||||||rs5752977||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29889593G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+6234G>A|||||||rs5752977||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29889593G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+6234G>A|||||||rs5752977||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29889593G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+6234G>A|||||||rs5752977||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29889593G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+6234G>A|||||||rs5752977||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29889593G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|30|0|2|0;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=140284;gnomADv4_1_AC_joint_XX=71605;gnomADv4_1_AC_joint_XY=68679;gnomADv4_1_AF_grpmax_joint=0.999615;gnomADv4_1_AF_joint=0.922217;gnomADv4_1_AF_joint_XX=0.920775;gnomADv4_1_AF_joint_XY=0.923726;gnomADv4_1_AN_grpmax_joint=5190;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64754;gnomADv4_1_nhomalt_joint_XX=33008;gnomADv4_1_nhomalt_joint_XY=31746;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29889652 chr22_29889652_T_C T C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=7.003;CADD_Rawscore=0.658419;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+6293T>C|||||||rs9614097||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29889652T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+6293T>C|||||||rs9614097||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29889652T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+6293T>C|||||||rs9614097||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29889652T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+6293T>C|||||||rs9614097||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29889652T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+6293T>C|||||||rs9614097||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29889652T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+6293T>C|||||||rs9614097||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29889652T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+6293T>C|||||||rs9614097||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29889652T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+6293T>C|||||||rs9614097||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29889652T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+6293T>C|||||||rs9614097||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29889652T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+6293T>C|||||||rs9614097||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29889652T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|30|-29|7|-5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24387;gnomADv4_1_AC_joint_XX=12431;gnomADv4_1_AC_joint_XY=11956;gnomADv4_1_AF_grpmax_joint=0.243451;gnomADv4_1_AF_joint=0.160504;gnomADv4_1_AF_joint_XX=0.160065;gnomADv4_1_AF_joint_XY=0.160963;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=151940;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2057;gnomADv4_1_nhomalt_joint_XX=1070;gnomADv4_1_nhomalt_joint_XY=987;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29889907 chr22_29889907_C_CTT;chr22_29889907_C_CT C CT 30 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=14;CADDIndel_PHREDscore=0.553;CADDIndel_Rawscore=-0.167785;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+6565dup|||||||rs11399020||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||17|chr22:g.29889924dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+6565dup|||||||rs11399020||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||17|chr22:g.29889924dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+6565dup|||||||rs11399020||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||17|chr22:g.29889924dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+6565dup|||||||rs11399020||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||17|chr22:g.29889924dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+6565dup|||||||rs11399020||1||HGNC|HGNC:7451|3||||||||Ensembl||||||17|chr22:g.29889924dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+6565dup|||||||rs11399020||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||17|chr22:g.29889924dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+6565dup|||||||rs11399020||1||HGNC|HGNC:7451|4||||||||Ensembl||||||17|chr22:g.29889924dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+6565dup|||||||rs11399020||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||17|chr22:g.29889924dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+6565dup|||||||rs11399020||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||17|chr22:g.29889924dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+6565dup|||||||rs11399020||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||17|chr22:g.29889924dup|||||||||||||;SpliceAI=CT|MTMR3|0.00|0.00|0.00|0.00|25|-8|25|-8;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=89643;gnomADv4_1_AC_joint_XX=47793;gnomADv4_1_AC_joint_XY=41850;gnomADv4_1_AF_grpmax_joint=0.861395;gnomADv4_1_AF_joint=0.718547;gnomADv4_1_AF_joint_XX=0.717311;gnomADv4_1_AF_joint_XY=0.719963;gnomADv4_1_AN_grpmax_joint=4300;gnomADv4_1_AN_joint=124756;gnomADv4_1_AN_joint_XX=66628;gnomADv4_1_AN_joint_XY=58128;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=33456;gnomADv4_1_nhomalt_joint_XX=17795;gnomADv4_1_nhomalt_joint_XY=15661;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29889907 chr22_29889907_C_CTT;chr22_29889907_C_CT C CTT 30 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=30;CADDIndel_PHREDscore=0.519;CADDIndel_Rawscore=-0.183899;CSQ=TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+6564_-459+6565dup|||||||rs11399020||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||17|chr22:g.29889923_29889924dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+6564_-138+6565dup|||||||rs11399020||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||17|chr22:g.29889923_29889924dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+6564_-138+6565dup|||||||rs11399020||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||17|chr22:g.29889923_29889924dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+6564_-138+6565dup|||||||rs11399020||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||17|chr22:g.29889923_29889924dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+6564_91+6565dup|||||||rs11399020||1||HGNC|HGNC:7451|3||||||||Ensembl||||||17|chr22:g.29889923_29889924dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+6564_-85+6565dup|||||||rs11399020||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||17|chr22:g.29889923_29889924dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+6564_181+6565dup|||||||rs11399020||1||HGNC|HGNC:7451|4||||||||Ensembl||||||17|chr22:g.29889923_29889924dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+6564_-138+6565dup|||||||rs11399020||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||17|chr22:g.29889923_29889924dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+6564_-138+6565dup|||||||rs11399020||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||17|chr22:g.29889923_29889924dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+6564_-138+6565dup|||||||rs11399020||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||17|chr22:g.29889923_29889924dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23941;gnomADv4_1_AC_joint_XX=12832;gnomADv4_1_AC_joint_XY=11109;gnomADv4_1_AF_grpmax_joint=0.291449;gnomADv4_1_AF_joint=0.191755;gnomADv4_1_AF_joint_XX=0.192459;gnomADv4_1_AF_joint_XY=0.190948;gnomADv4_1_AN_grpmax_joint=32606;gnomADv4_1_AN_joint=124852;gnomADv4_1_AN_joint_XX=66674;gnomADv4_1_AN_joint_XY=58178;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3219;gnomADv4_1_nhomalt_joint_XX=1723;gnomADv4_1_nhomalt_joint_XY=1496;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29890236 chr22_29890236_C_G C G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.648;CADD_Rawscore=0.23946;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+6877C>G|||||||rs12160999||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29890236C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+6877C>G|||||||rs12160999||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29890236C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+6877C>G|||||||rs12160999||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29890236C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+6877C>G|||||||rs12160999||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29890236C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+6877C>G|||||||rs12160999||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29890236C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+6877C>G|||||||rs12160999||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29890236C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+6877C>G|||||||rs12160999||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29890236C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+6877C>G|||||||rs12160999||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29890236C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+6877C>G|||||||rs12160999||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29890236C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+6877C>G|||||||rs12160999||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29890236C>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|1|-13|1|-13;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152170;gnomADv4_1_AC_joint_XX=77780;gnomADv4_1_AC_joint_XY=74390;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XX=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=68016;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=76085;gnomADv4_1_nhomalt_joint_XX=38890;gnomADv4_1_nhomalt_joint_XY=37195;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29891308 chr22_29891308_CGT_C CGT C 47 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.516;CADDIndel_Rawscore=-0.185278;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+7956_-459+7957del|||||||rs58714528||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||GT|GT|||6|chr22:g.29891315_29891316del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+7956_-138+7957del|||||||rs58714528||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||GT|GT|||6|chr22:g.29891315_29891316del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+7956_-138+7957del|||||||rs58714528||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||GT|GT|||6|chr22:g.29891315_29891316del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+7956_-138+7957del|||||||rs58714528||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||GT|GT|||6|chr22:g.29891315_29891316del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+7956_91+7957del|||||||rs58714528||1||HGNC|HGNC:7451|3||||||||Ensembl||GT|GT|||6|chr22:g.29891315_29891316del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+7956_-85+7957del|||||||rs58714528||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||GT|GT|||6|chr22:g.29891315_29891316del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+7956_181+7957del|||||||rs58714528||1||HGNC|HGNC:7451|4||||||||Ensembl||GT|GT|||6|chr22:g.29891315_29891316del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+7956_-138+7957del|||||||rs58714528||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||GT|GT|||6|chr22:g.29891315_29891316del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+7956_-138+7957del|||||||rs58714528||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||GT|GT|||6|chr22:g.29891315_29891316del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+7956_-138+7957del|||||||rs58714528||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||GT|GT|||6|chr22:g.29891315_29891316del|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-11|-12|-12|-28;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20111;gnomADv4_1_AC_joint_XX=10142;gnomADv4_1_AC_joint_XY=9969;gnomADv4_1_AF_grpmax_joint=0.246196;gnomADv4_1_AF_joint=0.135191;gnomADv4_1_AF_joint_XX=0.132944;gnomADv4_1_AF_joint_XY=0.137557;gnomADv4_1_AN_grpmax_joint=4732;gnomADv4_1_AN_joint=148760;gnomADv4_1_AN_joint_XX=76288;gnomADv4_1_AN_joint_XY=72472;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1505;gnomADv4_1_nhomalt_joint_XX=768;gnomADv4_1_nhomalt_joint_XY=737;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29892152 chr22_29892152_CA_C CA C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=1.279;CADDIndel_Rawscore=0.046386;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+8806del|||||||rs375103872||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A|||12|chr22:g.29892165del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+8806del|||||||rs375103872||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A|||12|chr22:g.29892165del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+8806del|||||||rs375103872||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A|||12|chr22:g.29892165del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+8806del|||||||rs375103872||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A|||12|chr22:g.29892165del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+8806del|||||||rs375103872||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A|||12|chr22:g.29892165del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+8806del|||||||rs375103872||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A|||12|chr22:g.29892165del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+8806del|||||||rs375103872||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A|||12|chr22:g.29892165del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+8806del|||||||rs375103872||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A|||12|chr22:g.29892165del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+8806del|||||||rs375103872||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A|||12|chr22:g.29892165del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+8806del|||||||rs375103872||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A|||12|chr22:g.29892165del|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-27|49|50|49;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8275;gnomADv4_1_AC_joint_XX=3943;gnomADv4_1_AC_joint_XY=4332;gnomADv4_1_AF_grpmax_joint=0.181006;gnomADv4_1_AF_joint=0.0635385;gnomADv4_1_AF_joint_XX=0.0584044;gnomADv4_1_AF_joint_XY=0.0690645;gnomADv4_1_AN_grpmax_joint=4254;gnomADv4_1_AN_joint=130236;gnomADv4_1_AN_joint_XX=67512;gnomADv4_1_AN_joint_XY=62724;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=310;gnomADv4_1_nhomalt_joint_XX=139;gnomADv4_1_nhomalt_joint_XY=171;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29892349 chr22_29892349_A_T A T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.029;CADD_Rawscore=-0.954326;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+8990A>T|||||||rs9614099||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29892349A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+8990A>T|||||||rs9614099||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29892349A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+8990A>T|||||||rs9614099||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29892349A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+8990A>T|||||||rs9614099||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29892349A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+8990A>T|||||||rs9614099||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29892349A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+8990A>T|||||||rs9614099||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29892349A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+8990A>T|||||||rs9614099||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29892349A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+8990A>T|||||||rs9614099||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29892349A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+8990A>T|||||||rs9614099||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29892349A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+8990A>T|||||||rs9614099||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29892349A>T|||1||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|23|-34|39|-34;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44089;gnomADv4_1_AC_joint_XX=23039;gnomADv4_1_AC_joint_XY=21050;gnomADv4_1_AF_grpmax_joint=0.60187;gnomADv4_1_AF_joint=0.290273;gnomADv4_1_AF_joint_XX=0.296596;gnomADv4_1_AF_joint_XY=0.283654;gnomADv4_1_AN_grpmax_joint=5134;gnomADv4_1_AN_joint=151888;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74210;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7510;gnomADv4_1_nhomalt_joint_XX=4051;gnomADv4_1_nhomalt_joint_XY=3459;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29892350 chr22_29892350_A_T A T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.528;CADD_Rawscore=-0.179634;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+8991A>T|||||||rs9614100||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29892350A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+8991A>T|||||||rs9614100||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29892350A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+8991A>T|||||||rs9614100||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29892350A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+8991A>T|||||||rs9614100||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29892350A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+8991A>T|||||||rs9614100||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29892350A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+8991A>T|||||||rs9614100||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29892350A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+8991A>T|||||||rs9614100||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29892350A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+8991A>T|||||||rs9614100||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29892350A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+8991A>T|||||||rs9614100||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29892350A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+8991A>T|||||||rs9614100||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29892350A>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|22|-35|-16|-35;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44088;gnomADv4_1_AC_joint_XX=23039;gnomADv4_1_AC_joint_XY=21049;gnomADv4_1_AF_grpmax_joint=0.60191;gnomADv4_1_AF_joint=0.290408;gnomADv4_1_AF_joint_XX=0.296749;gnomADv4_1_AF_joint_XY=0.283771;gnomADv4_1_AN_grpmax_joint=5132;gnomADv4_1_AN_joint=151814;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=74176;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7511;gnomADv4_1_nhomalt_joint_XX=4052;gnomADv4_1_nhomalt_joint_XY=3459;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29893320 chr22_29893320_T_C T C 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=5.298;CADD_Rawscore=0.484106;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+9961T>C|||||||rs9614101||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29893320T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+9961T>C|||||||rs9614101||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29893320T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+9961T>C|||||||rs9614101||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29893320T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+9961T>C|||||||rs9614101||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29893320T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+9961T>C|||||||rs9614101||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29893320T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+9961T>C|||||||rs9614101||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29893320T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+9961T>C|||||||rs9614101||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29893320T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+9961T>C|||||||rs9614101||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29893320T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+9961T>C|||||||rs9614101||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29893320T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+9961T>C|||||||rs9614101||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29893320T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-30|42|18|-20;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24421;gnomADv4_1_AC_joint_XX=12457;gnomADv4_1_AC_joint_XY=11964;gnomADv4_1_AF_grpmax_joint=0.243887;gnomADv4_1_AF_joint=0.160464;gnomADv4_1_AF_joint_XX=0.160173;gnomADv4_1_AF_joint_XY=0.160768;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152190;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2062;gnomADv4_1_nhomalt_joint_XX=1078;gnomADv4_1_nhomalt_joint_XY=984;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29893830 chr22_29893830_A_C A C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=6.593;CADD_Rawscore=0.614526;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+10471A>C|||||||rs1807513||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29893830A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+10471A>C|||||||rs1807513||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29893830A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+10471A>C|||||||rs1807513||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29893830A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+10471A>C|||||||rs1807513||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29893830A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+10471A>C|||||||rs1807513||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29893830A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+10471A>C|||||||rs1807513||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29893830A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+10471A>C|||||||rs1807513||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29893830A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+10471A>C|||||||rs1807513||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29893830A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+10471A>C|||||||rs1807513||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29893830A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+10471A>C|||||||rs1807513||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29893830A>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-47|37|-6|-21;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53515;gnomADv4_1_AC_joint_XX=27391;gnomADv4_1_AC_joint_XY=26124;gnomADv4_1_AF_grpmax_joint=0.712737;gnomADv4_1_AF_joint=0.352262;gnomADv4_1_AF_joint_XX=0.352777;gnomADv4_1_AF_joint_XY=0.351725;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151918;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10401;gnomADv4_1_nhomalt_joint_XX=5376;gnomADv4_1_nhomalt_joint_XY=5025;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29894136 chr22_29894136_C_T C T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.73;CADD_Rawscore=-0.098298;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+10777C>T|||||||rs9614102||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29894136C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+10777C>T|||||||rs9614102||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29894136C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+10777C>T|||||||rs9614102||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29894136C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+10777C>T|||||||rs9614102||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29894136C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+10777C>T|||||||rs9614102||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29894136C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+10777C>T|||||||rs9614102||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29894136C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+10777C>T|||||||rs9614102||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29894136C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+10777C>T|||||||rs9614102||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29894136C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+10777C>T|||||||rs9614102||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29894136C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+10777C>T|||||||rs9614102||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29894136C>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|50|-13|-12|-14;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36395;gnomADv4_1_AC_joint_XX=19528;gnomADv4_1_AC_joint_XY=16867;gnomADv4_1_AF_grpmax_joint=0.362601;gnomADv4_1_AF_joint=0.239227;gnomADv4_1_AF_joint_XX=0.251061;gnomADv4_1_AF_joint_XY=0.226847;gnomADv4_1_AN_grpmax_joint=67970;gnomADv4_1_AN_joint=152136;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5726;gnomADv4_1_nhomalt_joint_XX=3225;gnomADv4_1_nhomalt_joint_XY=2501;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29894454 chr22_29894454_A_G A G 42 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.453;CADD_Rawscore=-0.217716;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+11095A>G|||||||rs8140770||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29894454A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+11095A>G|||||||rs8140770||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29894454A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+11095A>G|||||||rs8140770||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29894454A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+11095A>G|||||||rs8140770||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29894454A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+11095A>G|||||||rs8140770||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29894454A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+11095A>G|||||||rs8140770||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29894454A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+11095A>G|||||||rs8140770||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29894454A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+11095A>G|||||||rs8140770||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29894454A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+11095A>G|||||||rs8140770||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29894454A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+11095A>G|||||||rs8140770||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29894454A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-44|49|38|8;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24335;gnomADv4_1_AC_joint_XX=12419;gnomADv4_1_AC_joint_XY=11916;gnomADv4_1_AF_grpmax_joint=0.243435;gnomADv4_1_AF_joint=0.160417;gnomADv4_1_AF_joint_XX=0.16008;gnomADv4_1_AF_joint_XY=0.160771;gnomADv4_1_AN_grpmax_joint=4798;gnomADv4_1_AN_joint=151698;gnomADv4_1_AN_joint_XX=77580;gnomADv4_1_AN_joint_XY=74118;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2047;gnomADv4_1_nhomalt_joint_XX=1070;gnomADv4_1_nhomalt_joint_XY=977;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29894503 chr22_29894503_C_CGT C CGT 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.422;CADDIndel_Rawscore=-0.235797;CSQ=GT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+11177_-459+11178dup|||||||rs144670905||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||34|chr22:g.29894536_29894537dup|||||||||||||,GT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+11177_-138+11178dup|||||||rs144670905||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||34|chr22:g.29894536_29894537dup|||||||||||||,GT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+11177_-138+11178dup|||||||rs144670905||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||34|chr22:g.29894536_29894537dup|||||||||||||,GT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+11177_-138+11178dup|||||||rs144670905||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||34|chr22:g.29894536_29894537dup|||||||||||||,GT|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+11177_91+11178dup|||||||rs144670905||1||HGNC|HGNC:7451|3||||||||Ensembl||||||34|chr22:g.29894536_29894537dup|||||||||||||,GT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+11177_-85+11178dup|||||||rs144670905||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||34|chr22:g.29894536_29894537dup|||||||||||||,GT|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+11177_181+11178dup|||||||rs144670905||1||HGNC|HGNC:7451|4||||||||Ensembl||||||34|chr22:g.29894536_29894537dup|||||||||||||,GT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+11177_-138+11178dup|||||||rs144670905||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||34|chr22:g.29894536_29894537dup|||||||||||||,GT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+11177_-138+11178dup|||||||rs144670905||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||34|chr22:g.29894536_29894537dup|||||||||||||,GT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+11177_-138+11178dup|||||||rs144670905||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||34|chr22:g.29894536_29894537dup|||||||||||||;TYPE=INDEL;VEP_Allele=GT,GT,GT,GT,GT,GT,GT,GT,GT,GT;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4743;gnomADv4_1_AC_joint_XX=2535;gnomADv4_1_AC_joint_XY=2208;gnomADv4_1_AF_grpmax_joint=0.0753634;gnomADv4_1_AF_joint=0.032214;gnomADv4_1_AF_joint_XX=0.0334901;gnomADv4_1_AF_joint_XY=0.0308639;gnomADv4_1_AN_grpmax_joint=39900;gnomADv4_1_AN_joint=147234;gnomADv4_1_AN_joint_XX=75694;gnomADv4_1_AN_joint_XY=71540;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=121;gnomADv4_1_nhomalt_joint_XX=61;gnomADv4_1_nhomalt_joint_XY=60;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29894644 chr22_29894644_A_G A G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=14.48;CADD_Rawscore=1.55065;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+11285A>G|||||||rs5763581||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29894644A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+11285A>G|||||||rs5763581||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29894644A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+11285A>G|||||||rs5763581||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29894644A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs5763581|4943|-1||HGNC|HGNC:47294|||||||||Ensembl||A|A||||chr22:g.29894644A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+11285A>G|||||||rs5763581||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29894644A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+11285A>G|||||||rs5763581||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29894644A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+11285A>G|||||||rs5763581||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29894644A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+11285A>G|||||||rs5763581||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29894644A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+11285A>G|||||||rs5763581||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29894644A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+11285A>G|||||||rs5763581||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29894644A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+11285A>G|||||||rs5763581||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29894644A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|10|2|32|8;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53458;gnomADv4_1_AC_joint_XX=27383;gnomADv4_1_AC_joint_XY=26075;gnomADv4_1_AF_grpmax_joint=0.714036;gnomADv4_1_AF_joint=0.351961;gnomADv4_1_AF_joint_XX=0.352501;gnomADv4_1_AF_joint_XY=0.351396;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=151886;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10396;gnomADv4_1_nhomalt_joint_XX=5380;gnomADv4_1_nhomalt_joint_XY=5016;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29895020 chr22_29895020_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=6.224;CADD_Rawscore=0.576007;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+11661T>C|||||||rs5763582||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29895020T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+11661T>C|||||||rs5763582||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29895020T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+11661T>C|||||||rs5763582||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29895020T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs5763582|4567|-1||HGNC|HGNC:47294|||||||||Ensembl||T|T||||chr22:g.29895020T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+11661T>C|||||||rs5763582||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29895020T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+11661T>C|||||||rs5763582||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29895020T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+11661T>C|||||||rs5763582||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29895020T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+11661T>C|||||||rs5763582||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29895020T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+11661T>C|||||||rs5763582||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29895020T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+11661T>C|||||||rs5763582||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29895020T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+11661T>C|||||||rs5763582||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29895020T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-6|39|-30|-31;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=143154;gnomADv4_1_AC_joint_XX=73086;gnomADv4_1_AC_joint_XY=70068;gnomADv4_1_AF_grpmax_joint=0.999614;gnomADv4_1_AF_joint=0.940343;gnomADv4_1_AF_joint_XX=0.93936;gnomADv4_1_AF_joint_XY=0.941369;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152236;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67397;gnomADv4_1_nhomalt_joint_XX=34385;gnomADv4_1_nhomalt_joint_XY=33012;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29896735 chr22_29896735_A_G A G 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=7.419;CADD_Rawscore=0.704045;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+13376A>G|||||||rs12710565||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29896735A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+13376A>G|||||||rs12710565||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29896735A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+13376A>G|||||||rs12710565||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29896735A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs12710565|2852|-1||HGNC|HGNC:47294|||||||||Ensembl||A|A||||chr22:g.29896735A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+13376A>G|||||||rs12710565||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29896735A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+13376A>G|||||||rs12710565||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29896735A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+13376A>G|||||||rs12710565||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29896735A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+13376A>G|||||||rs12710565||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29896735A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+13376A>G|||||||rs12710565||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29896735A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+13376A>G|||||||rs12710565||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29896735A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+13376A>G|||||||rs12710565||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29896735A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|0|-42|-38|11;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53586;gnomADv4_1_AC_joint_XX=27418;gnomADv4_1_AC_joint_XY=26168;gnomADv4_1_AF_grpmax_joint=0.713789;gnomADv4_1_AF_joint=0.352419;gnomADv4_1_AF_joint_XX=0.352806;gnomADv4_1_AF_joint_XY=0.352014;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152052;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10421;gnomADv4_1_nhomalt_joint_XX=5384;gnomADv4_1_nhomalt_joint_XY=5037;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29896822 chr22_29896822_A_AT A AT 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=6.311;CADDIndel_Rawscore=0.585043;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+13472dup|||||||rs140357883||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||9|chr22:g.29896831dup|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+13472dup|||||||rs140357883||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||9|chr22:g.29896831dup|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+13472dup|||||||rs140357883||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||9|chr22:g.29896831dup|||1||||||||||,T|downstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs140357883|2764|-1||HGNC|HGNC:47294|||||||||Ensembl|||||||chr22:g.29896831dup|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+13472dup|||||||rs140357883||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||9|chr22:g.29896831dup|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+13472dup|||||||rs140357883||1||HGNC|HGNC:7451|3||||||||Ensembl||||||9|chr22:g.29896831dup|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+13472dup|||||||rs140357883||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||9|chr22:g.29896831dup|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+13472dup|||||||rs140357883||1||HGNC|HGNC:7451|4||||||||Ensembl||||||9|chr22:g.29896831dup|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+13472dup|||||||rs140357883||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||9|chr22:g.29896831dup|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+13472dup|||||||rs140357883||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||9|chr22:g.29896831dup|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+13472dup|||||||rs140357883||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||9|chr22:g.29896831dup|||1||||||||||;SpliceAI=AT|MTMR3|0.00|0.00|0.00|0.00|-41|32|39|12;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19575;gnomADv4_1_AC_joint_XX=9878;gnomADv4_1_AC_joint_XY=9697;gnomADv4_1_AF_grpmax_joint=0.245576;gnomADv4_1_AF_joint=0.131991;gnomADv4_1_AF_joint_XX=0.129721;gnomADv4_1_AF_joint_XY=0.134386;gnomADv4_1_AN_grpmax_joint=4634;gnomADv4_1_AN_joint=148306;gnomADv4_1_AN_joint_XX=76148;gnomADv4_1_AN_joint_XY=72158;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1481;gnomADv4_1_nhomalt_joint_XX=753;gnomADv4_1_nhomalt_joint_XY=728;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29896869 chr22_29896869_T_TCA;chr22_29896869_T_TCTCACA T TCA 41 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.271;CADDIndel_Rawscore=-0.348021;CSQ=CA|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+13543_-459+13544dup|||||||rs61038012||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||34|chr22:g.29896902_29896903dup|||||||||||||,CA|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+13543_-138+13544dup|||||||rs61038012||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||34|chr22:g.29896902_29896903dup|||||||||||||,CA|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+13543_-138+13544dup|||||||rs61038012||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||34|chr22:g.29896902_29896903dup|||||||||||||,CA|downstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs61038012|2717|-1||HGNC|HGNC:47294|||||||||Ensembl|||||||chr22:g.29896902_29896903dup|||||||||||||,CA|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+13543_-138+13544dup|||||||rs61038012||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||34|chr22:g.29896902_29896903dup|||||||||||||,CA|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+13543_91+13544dup|||||||rs61038012||1||HGNC|HGNC:7451|3||||||||Ensembl||||||34|chr22:g.29896902_29896903dup|||||||||||||,CA|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+13543_-85+13544dup|||||||rs61038012||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||34|chr22:g.29896902_29896903dup|||||||||||||,CA|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+13543_181+13544dup|||||||rs61038012||1||HGNC|HGNC:7451|4||||||||Ensembl||||||34|chr22:g.29896902_29896903dup|||||||||||||,CA|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+13543_-138+13544dup|||||||rs61038012||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||34|chr22:g.29896902_29896903dup|||||||||||||,CA|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+13543_-138+13544dup|||||||rs61038012||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||34|chr22:g.29896902_29896903dup|||||||||||||,CA|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+13543_-138+13544dup|||||||rs61038012||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||34|chr22:g.29896902_29896903dup|||||||||||||;TYPE=INDEL;VEP_Allele=CA,CA,CA,CA,CA,CA,CA,CA,CA,CA,CA;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22358;gnomADv4_1_AC_joint_XX=11552;gnomADv4_1_AC_joint_XY=10806;gnomADv4_1_AF_grpmax_joint=0.287945;gnomADv4_1_AF_joint=0.161925;gnomADv4_1_AF_joint_XX=0.159978;gnomADv4_1_AF_joint_XY=0.16406;gnomADv4_1_AN_grpmax_joint=4098;gnomADv4_1_AN_joint=138076;gnomADv4_1_AN_joint_XX=72210;gnomADv4_1_AN_joint_XY=65866;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1922;gnomADv4_1_nhomalt_joint_XX=975;gnomADv4_1_nhomalt_joint_XY=947;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29896869 chr22_29896869_T_TCA;chr22_29896869_T_TCTCACA T TCTCACA 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.263;CADDIndel_Rawscore=-0.355832;CSQ=CTCACA|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+13511_-459+13512insTCACAC|||||||rs145703649||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||1|chr22:g.29896870_29896871insTCACAC|||||||||||||,CTCACA|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+13511_-138+13512insTCACAC|||||||rs145703649||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||1|chr22:g.29896870_29896871insTCACAC|||||||||||||,CTCACA|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+13511_-138+13512insTCACAC|||||||rs145703649||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||1|chr22:g.29896870_29896871insTCACAC|||||||||||||,CTCACA|downstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs145703649|2717|-1||HGNC|HGNC:47294|||||||||Ensembl|||||||chr22:g.29896870_29896871insTCACAC|||||||||||||,CTCACA|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+13511_-138+13512insTCACAC|||||||rs145703649||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||1|chr22:g.29896870_29896871insTCACAC|||||||||||||,CTCACA|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+13511_91+13512insTCACAC|||||||rs145703649||1||HGNC|HGNC:7451|3||||||||Ensembl||||||1|chr22:g.29896870_29896871insTCACAC|||||||||||||,CTCACA|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+13511_-85+13512insTCACAC|||||||rs145703649||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||1|chr22:g.29896870_29896871insTCACAC|||||||||||||,CTCACA|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+13511_181+13512insTCACAC|||||||rs145703649||1||HGNC|HGNC:7451|4||||||||Ensembl||||||1|chr22:g.29896870_29896871insTCACAC|||||||||||||,CTCACA|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+13511_-138+13512insTCACAC|||||||rs145703649||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||1|chr22:g.29896870_29896871insTCACAC|||||||||||||,CTCACA|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+13511_-138+13512insTCACAC|||||||rs145703649||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||1|chr22:g.29896870_29896871insTCACAC|||||||||||||,CTCACA|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+13511_-138+13512insTCACAC|||||||rs145703649||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||1|chr22:g.29896870_29896871insTCACAC|||||||||||||;TYPE=INDEL;VEP_Allele=CTCACA,CTCACA,CTCACA,CTCACA,CTCACA,CTCACA,CTCACA,CTCACA,CTCACA,CTCACA,CTCACA;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11041;gnomADv4_1_AC_joint_XX=6156;gnomADv4_1_AC_joint_XY=4885;gnomADv4_1_AF_grpmax_joint=0.12177;gnomADv4_1_AF_joint=0.0799134;gnomADv4_1_AF_joint_XX=0.0852136;gnomADv4_1_AF_joint_XY=0.074105;gnomADv4_1_AN_grpmax_joint=64704;gnomADv4_1_AN_joint=138162;gnomADv4_1_AN_joint_XX=72242;gnomADv4_1_AN_joint_XY=65920;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=566;gnomADv4_1_nhomalt_joint_XX=331;gnomADv4_1_nhomalt_joint_XY=235;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29897225 chr22_29897225_C_T C T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.918;CADD_Rawscore=-0.039949;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+13866C>T|||||||rs185269752||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29897225C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+13866C>T|||||||rs185269752||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29897225C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+13866C>T|||||||rs185269752||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29897225C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs185269752|2362|-1||HGNC|HGNC:47294|||||||||Ensembl||C|C||||chr22:g.29897225C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+13866C>T|||||||rs185269752||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29897225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+13866C>T|||||||rs185269752||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29897225C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+13866C>T|||||||rs185269752||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29897225C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+13866C>T|||||||rs185269752||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29897225C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+13866C>T|||||||rs185269752||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29897225C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+13866C>T|||||||rs185269752||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29897225C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+13866C>T|||||||rs185269752||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29897225C>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|15|34|-6|-4;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=227;gnomADv4_1_AC_joint_XX=104;gnomADv4_1_AC_joint_XY=123;gnomADv4_1_AF_grpmax_joint=0.0102041;gnomADv4_1_AF_joint=0.00149596;gnomADv4_1_AF_joint_XX=0.00134014;gnomADv4_1_AF_joint_XY=0.00165907;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151742;gnomADv4_1_AN_joint_XX=77604;gnomADv4_1_AN_joint_XY=74138;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29898184 chr22_29898184_A_G A G 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=9.746;CADD_Rawscore=0.948478;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+14825A>G|||||||rs2189802||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29898184A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+14825A>G|||||||rs2189802||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29898184A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+14825A>G|||||||rs2189802||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29898184A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs2189802|1403|-1||HGNC|HGNC:47294|||||||||Ensembl||A|A||||chr22:g.29898184A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+14825A>G|||||||rs2189802||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29898184A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+14825A>G|||||||rs2189802||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29898184A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+14825A>G|||||||rs2189802||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29898184A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+14825A>G|||||||rs2189802||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29898184A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+14825A>G|||||||rs2189802||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29898184A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+14825A>G|||||||rs2189802||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29898184A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+14825A>G|||||||rs2189802||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29898184A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-1|-23|-1|-22;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53551;gnomADv4_1_AC_joint_XX=27433;gnomADv4_1_AC_joint_XY=26118;gnomADv4_1_AF_grpmax_joint=0.712568;gnomADv4_1_AF_joint=0.352402;gnomADv4_1_AF_joint_XX=0.353045;gnomADv4_1_AF_joint_XY=0.351729;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151960;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=74256;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10407;gnomADv4_1_nhomalt_joint_XX=5390;gnomADv4_1_nhomalt_joint_XY=5017;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29898646 chr22_29898646_C_A C A 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.688;CADD_Rawscore=0.119195;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+15287C>A|||||||rs9608821||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29898646C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+15287C>A|||||||rs9608821||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29898646C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+15287C>A|||||||rs9608821||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29898646C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs9608821|941|-1||HGNC|HGNC:47294|||||||||Ensembl||C|C||||chr22:g.29898646C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+15287C>A|||||||rs9608821||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29898646C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+15287C>A|||||||rs9608821||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29898646C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+15287C>A|||||||rs9608821||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29898646C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+15287C>A|||||||rs9608821||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29898646C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+15287C>A|||||||rs9608821||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29898646C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+15287C>A|||||||rs9608821||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29898646C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+15287C>A|||||||rs9608821||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29898646C>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|-32|10|24|34;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7508;gnomADv4_1_AC_joint_XX=3624;gnomADv4_1_AC_joint_XY=3884;gnomADv4_1_AF_grpmax_joint=0.0901163;gnomADv4_1_AF_joint=0.0493253;gnomADv4_1_AF_joint_XX=0.046587;gnomADv4_1_AF_joint_XY=0.0521875;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152214;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=270;gnomADv4_1_nhomalt_joint_XX=128;gnomADv4_1_nhomalt_joint_XY=142;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29898755 chr22_29898755_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=11.05;CADD_Rawscore=1.06623;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+15396T>C|||||||rs8138677||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29898755T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+15396T>C|||||||rs8138677||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29898755T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+15396T>C|||||||rs8138677||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29898755T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs8138677|832|-1||HGNC|HGNC:47294|||||||||Ensembl||T|T||||chr22:g.29898755T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+15396T>C|||||||rs8138677||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29898755T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+15396T>C|||||||rs8138677||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29898755T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+15396T>C|||||||rs8138677||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29898755T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+15396T>C|||||||rs8138677||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29898755T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+15396T>C|||||||rs8138677||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29898755T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+15396T>C|||||||rs8138677||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29898755T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+15396T>C|||||||rs8138677||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29898755T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|0|44|-46|-50;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24390;gnomADv4_1_AC_joint_XX=12446;gnomADv4_1_AC_joint_XY=11944;gnomADv4_1_AF_grpmax_joint=0.242946;gnomADv4_1_AF_joint=0.160382;gnomADv4_1_AF_joint_XX=0.160098;gnomADv4_1_AF_joint_XY=0.16068;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2058;gnomADv4_1_nhomalt_joint_XX=1082;gnomADv4_1_nhomalt_joint_XY=976;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29898912 chr22_29898912_C_CT C CT 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.168;CADDIndel_Rawscore=-0.472504;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+15568dup|||||||rs199656050||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||15|chr22:g.29898927dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+15568dup|||||||rs199656050||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||15|chr22:g.29898927dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+15568dup|||||||rs199656050||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||15|chr22:g.29898927dup|||||||||||||,T|downstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs199656050|674|-1||HGNC|HGNC:47294|||||||||Ensembl|||||||chr22:g.29898927dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+15568dup|||||||rs199656050||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||15|chr22:g.29898927dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+15568dup|||||||rs199656050||1||HGNC|HGNC:7451|3||||||||Ensembl||||||15|chr22:g.29898927dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+15568dup|||||||rs199656050||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||15|chr22:g.29898927dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+15568dup|||||||rs199656050||1||HGNC|HGNC:7451|4||||||||Ensembl||||||15|chr22:g.29898927dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+15568dup|||||||rs199656050||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||15|chr22:g.29898927dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+15568dup|||||||rs199656050||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||15|chr22:g.29898927dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+15568dup|||||||rs199656050||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||15|chr22:g.29898927dup|||||||||||||;SpliceAI=CT|MTMR3|0.00|0.00|0.00|0.00|-31|-41|-31|22;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60830;gnomADv4_1_AC_joint_XX=31789;gnomADv4_1_AC_joint_XY=29041;gnomADv4_1_AF_grpmax_joint=0.701138;gnomADv4_1_AF_joint=0.425998;gnomADv4_1_AF_joint_XX=0.42993;gnomADv4_1_AF_joint_XY=0.421777;gnomADv4_1_AN_grpmax_joint=4922;gnomADv4_1_AN_joint=142794;gnomADv4_1_AN_joint_XX=73940;gnomADv4_1_AN_joint_XY=68854;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13185;gnomADv4_1_nhomalt_joint_XX=6962;gnomADv4_1_nhomalt_joint_XY=6223;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29899572 chr22_29899572_C_G C G 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=3.552;CADD_Rawscore=0.325336;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+16213C>G|||||||rs5763589||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29899572C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+16213C>G|||||||rs5763589||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29899572C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+16213C>G|||||||rs5763589||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29899572C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs5763589|15|-1||HGNC|HGNC:47294|||||||||Ensembl||C|C||||chr22:g.29899572C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+16213C>G|||||||rs5763589||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29899572C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+16213C>G|||||||rs5763589||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29899572C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+16213C>G|||||||rs5763589||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29899572C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+16213C>G|||||||rs5763589||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29899572C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+16213C>G|||||||rs5763589||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29899572C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+16213C>G|||||||rs5763589||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29899572C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+16213C>G|||||||rs5763589||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29899572C>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|1|45|-1|4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53593;gnomADv4_1_AC_joint_XX=27423;gnomADv4_1_AC_joint_XY=26170;gnomADv4_1_AF_grpmax_joint=0.713789;gnomADv4_1_AF_joint=0.352544;gnomADv4_1_AF_joint_XX=0.352907;gnomADv4_1_AF_joint_XY=0.352164;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10431;gnomADv4_1_nhomalt_joint_XX=5390;gnomADv4_1_nhomalt_joint_XY=5041;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29899972 chr22_29899972_C_CT C CT 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=1.318;CADDIndel_Rawscore=0.054161;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+16617dup|||||||rs147842231||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||4|chr22:g.29899976dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+16617dup|||||||rs147842231||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||4|chr22:g.29899976dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+16617dup|||||||rs147842231||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||4|chr22:g.29899976dup|||||||||||||,T|upstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs147842231|279|-1||HGNC|HGNC:47294|||||||||Ensembl|||||||chr22:g.29899976dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+16617dup|||||||rs147842231||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||4|chr22:g.29899976dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+16617dup|||||||rs147842231||1||HGNC|HGNC:7451|3||||||||Ensembl||||||4|chr22:g.29899976dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+16617dup|||||||rs147842231||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||4|chr22:g.29899976dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+16617dup|||||||rs147842231||1||HGNC|HGNC:7451|4||||||||Ensembl||||||4|chr22:g.29899976dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+16617dup|||||||rs147842231||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||4|chr22:g.29899976dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+16617dup|||||||rs147842231||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||4|chr22:g.29899976dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+16617dup|||||||rs147842231||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||4|chr22:g.29899976dup|||||||||||||;SpliceAI=CT|MTMR3|0.00|0.00|0.00|0.00|7|42|-22|14;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24390;gnomADv4_1_AC_joint_XX=12451;gnomADv4_1_AC_joint_XY=11939;gnomADv4_1_AF_grpmax_joint=0.243574;gnomADv4_1_AF_joint=0.160281;gnomADv4_1_AF_joint_XX=0.16001;gnomADv4_1_AF_joint_XY=0.160565;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2051;gnomADv4_1_nhomalt_joint_XX=1074;gnomADv4_1_nhomalt_joint_XY=977;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29900233 chr22_29900233_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.261;CADD_Rawscore=-0.357845;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+16874C>T|||||||rs9608822||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29900233C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+16874C>T|||||||rs9608822||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29900233C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+16874C>T|||||||rs9608822||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29900233C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs9608822|540|-1||HGNC|HGNC:47294|||||||||Ensembl||C|C||||chr22:g.29900233C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+16874C>T|||||||rs9608822||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29900233C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+16874C>T|||||||rs9608822||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29900233C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+16874C>T|||||||rs9608822||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29900233C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+16874C>T|||||||rs9608822||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29900233C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+16874C>T|||||||rs9608822||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29900233C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+16874C>T|||||||rs9608822||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29900233C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+16874C>T|||||||rs9608822||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29900233C>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|19|46|-2|46;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24364;gnomADv4_1_AC_joint_XX=12439;gnomADv4_1_AC_joint_XY=11925;gnomADv4_1_AF_grpmax_joint=0.242845;gnomADv4_1_AF_joint=0.160188;gnomADv4_1_AF_joint_XX=0.159975;gnomADv4_1_AF_joint_XY=0.160412;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152096;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2049;gnomADv4_1_nhomalt_joint_XX=1073;gnomADv4_1_nhomalt_joint_XY=976;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29902197 chr22_29902197_A_G A G 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=6.431;CADD_Rawscore=0.597492;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+18838A>G|||||||rs5763591||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29902197A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+18838A>G|||||||rs5763591||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29902197A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+18838A>G|||||||rs5763591||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29902197A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs5763591|2504|-1||HGNC|HGNC:47294|||||||||Ensembl||A|A||||chr22:g.29902197A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+18838A>G|||||||rs5763591||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29902197A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+18838A>G|||||||rs5763591||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29902197A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+18838A>G|||||||rs5763591||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29902197A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+18838A>G|||||||rs5763591||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29902197A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+18838A>G|||||||rs5763591||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29902197A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+18838A>G|||||||rs5763591||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29902197A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+18838A>G|||||||rs5763591||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29902197A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-11|-7|-1|23;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53611;gnomADv4_1_AC_joint_XX=27427;gnomADv4_1_AC_joint_XY=26184;gnomADv4_1_AF_grpmax_joint=0.712906;gnomADv4_1_AF_joint=0.352565;gnomADv4_1_AF_joint_XX=0.352922;gnomADv4_1_AF_joint_XY=0.352191;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152060;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10438;gnomADv4_1_nhomalt_joint_XX=5391;gnomADv4_1_nhomalt_joint_XY=5047;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29902585 chr22_29902585_T_G T G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=7.125;CADD_Rawscore=0.67168;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+19226T>G|||||||rs5763592||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29902585T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+19226T>G|||||||rs5763592||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29902585T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+19226T>G|||||||rs5763592||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29902585T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs5763592|2892|-1||HGNC|HGNC:47294|||||||||Ensembl||T|T||||chr22:g.29902585T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+19226T>G|||||||rs5763592||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29902585T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+19226T>G|||||||rs5763592||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29902585T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+19226T>G|||||||rs5763592||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29902585T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+19226T>G|||||||rs5763592||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29902585T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+19226T>G|||||||rs5763592||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29902585T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+19226T>G|||||||rs5763592||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29902585T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+19226T>G|||||||rs5763592||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29902585T>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-42|-34|-45|-6;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44372;gnomADv4_1_AC_joint_XX=23171;gnomADv4_1_AC_joint_XY=21201;gnomADv4_1_AF_grpmax_joint=0.607018;gnomADv4_1_AF_joint=0.292236;gnomADv4_1_AF_joint_XX=0.298319;gnomADv4_1_AF_joint_XY=0.285866;gnomADv4_1_AN_grpmax_joint=5130;gnomADv4_1_AN_joint=151836;gnomADv4_1_AN_joint_XX=77672;gnomADv4_1_AN_joint_XY=74164;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7627;gnomADv4_1_nhomalt_joint_XX=4103;gnomADv4_1_nhomalt_joint_XY=3524;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29903390 chr22_29903390_C_CT C CT 28 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=28;CADDIndel_PHREDscore=0.278;CADDIndel_Rawscore=-0.341839;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+20049dup|||||||rs35625964||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||18|chr22:g.29903408dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+20049dup|||||||rs35625964||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||18|chr22:g.29903408dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+20049dup|||||||rs35625964||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||18|chr22:g.29903408dup|||||||||||||,T|upstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs35625964|3697|-1||HGNC|HGNC:47294|||||||||Ensembl|||||||chr22:g.29903408dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+20049dup|||||||rs35625964||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||18|chr22:g.29903408dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+20049dup|||||||rs35625964||1||HGNC|HGNC:7451|3||||||||Ensembl||||||18|chr22:g.29903408dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+20049dup|||||||rs35625964||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||18|chr22:g.29903408dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+20049dup|||||||rs35625964||1||HGNC|HGNC:7451|4||||||||Ensembl||||||18|chr22:g.29903408dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+20049dup|||||||rs35625964||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||18|chr22:g.29903408dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+20049dup|||||||rs35625964||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||18|chr22:g.29903408dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+20049dup|||||||rs35625964||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||18|chr22:g.29903408dup|||||||||||||;SpliceAI=CT|MTMR3|0.00|0.00|0.00|0.00|22|26|16|26;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=83410;gnomADv4_1_AC_joint_XX=44768;gnomADv4_1_AC_joint_XY=38642;gnomADv4_1_AF_grpmax_joint=0.920989;gnomADv4_1_AF_joint=0.696884;gnomADv4_1_AF_joint_XX=0.694939;gnomADv4_1_AF_joint_XY=0.69915;gnomADv4_1_AN_grpmax_joint=4164;gnomADv4_1_AN_joint=119690;gnomADv4_1_AN_joint_XX=64420;gnomADv4_1_AN_joint_XY=55270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=31609;gnomADv4_1_nhomalt_joint_XX=16866;gnomADv4_1_nhomalt_joint_XY=14743;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29904597 chr22_29904597_C_G C G 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.212;CADD_Rawscore=-0.411079;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+21238C>G|||||||rs5752978||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29904597C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+21238C>G|||||||rs5752978||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29904597C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+21238C>G|||||||rs5752978||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29904597C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|RNU6-331P|ENSG00000207455|Transcript|ENST00000384724|snRNA||||||||||rs5752978|4904|-1||HGNC|HGNC:47294|||||||||Ensembl||C|C||||chr22:g.29904597C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+21238C>G|||||||rs5752978||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29904597C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+21238C>G|||||||rs5752978||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29904597C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+21238C>G|||||||rs5752978||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29904597C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+21238C>G|||||||rs5752978||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29904597C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+21238C>G|||||||rs5752978||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29904597C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+21238C>G|||||||rs5752978||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29904597C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+21238C>G|||||||rs5752978||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29904597C>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|1|-42|-5|5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000384724,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000207455,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,RNU6-331P,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44348;gnomADv4_1_AC_joint_XX=23144;gnomADv4_1_AC_joint_XY=21204;gnomADv4_1_AF_grpmax_joint=0.608259;gnomADv4_1_AF_joint=0.291571;gnomADv4_1_AF_joint_XX=0.297634;gnomADv4_1_AF_joint_XY=0.28523;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7649;gnomADv4_1_nhomalt_joint_XX=4110;gnomADv4_1_nhomalt_joint_XY=3539;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29904820 chr22_29904820_TTG_T TTG T 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.989;CADDIndel_Rawscore=-0.02058;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+21481_-459+21482del|||||||rs58144404||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||TG|TG|||19|chr22:g.29904840_29904841del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+21481_-138+21482del|||||||rs58144404||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TG|TG|||19|chr22:g.29904840_29904841del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+21481_-138+21482del|||||||rs58144404||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||TG|TG|||19|chr22:g.29904840_29904841del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+21481_-138+21482del|||||||rs58144404||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||TG|TG|||19|chr22:g.29904840_29904841del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+21481_91+21482del|||||||rs58144404||1||HGNC|HGNC:7451|3||||||||Ensembl||TG|TG|||19|chr22:g.29904840_29904841del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+21481_-85+21482del|||||||rs58144404||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||TG|TG|||19|chr22:g.29904840_29904841del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+21481_181+21482del|||||||rs58144404||1||HGNC|HGNC:7451|4||||||||Ensembl||TG|TG|||19|chr22:g.29904840_29904841del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+21481_-138+21482del|||||||rs58144404||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||TG|TG|||19|chr22:g.29904840_29904841del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+21481_-138+21482del|||||||rs58144404||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||TG|TG|||19|chr22:g.29904840_29904841del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+21481_-138+21482del|||||||rs58144404||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||TG|TG|||19|chr22:g.29904840_29904841del|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|-36|42|-8|-14;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53410;gnomADv4_1_AC_joint_XX=27414;gnomADv4_1_AC_joint_XY=25996;gnomADv4_1_AF_grpmax_joint=0.708023;gnomADv4_1_AF_joint=0.354563;gnomADv4_1_AF_joint_XX=0.355564;gnomADv4_1_AF_joint_XY=0.353514;gnomADv4_1_AN_grpmax_joint=5110;gnomADv4_1_AN_joint=150636;gnomADv4_1_AN_joint_XX=77100;gnomADv4_1_AN_joint_XY=73536;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10291;gnomADv4_1_nhomalt_joint_XX=5335;gnomADv4_1_nhomalt_joint_XY=4956;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29906164 chr22_29906164_G_A G A 52 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=9.309;CADD_Rawscore=0.905198;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+22805G>A|||||||rs6006300||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29906164G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+22805G>A|||||||rs6006300||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29906164G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+22805G>A|||||||rs6006300||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29906164G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+22805G>A|||||||rs6006300||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29906164G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+22805G>A|||||||rs6006300||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29906164G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+22805G>A|||||||rs6006300||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29906164G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+22805G>A|||||||rs6006300||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29906164G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+22805G>A|||||||rs6006300||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29906164G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+22805G>A|||||||rs6006300||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29906164G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+22805G>A|||||||rs6006300||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29906164G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.01|0.00|-33|-47|-33|-47;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53534;gnomADv4_1_AC_joint_XX=27435;gnomADv4_1_AC_joint_XY=26099;gnomADv4_1_AF_grpmax_joint=0.713346;gnomADv4_1_AF_joint=0.352411;gnomADv4_1_AF_joint_XX=0.35308;gnomADv4_1_AF_joint_XY=0.35171;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=151908;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74206;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10420;gnomADv4_1_nhomalt_joint_XX=5398;gnomADv4_1_nhomalt_joint_XY=5022;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29906175 chr22_29906175_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=9.381;CADD_Rawscore=0.912463;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+22816A>G|||||||rs9608823||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29906175A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+22816A>G|||||||rs9608823||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29906175A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+22816A>G|||||||rs9608823||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29906175A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+22816A>G|||||||rs9608823||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29906175A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+22816A>G|||||||rs9608823||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29906175A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+22816A>G|||||||rs9608823||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29906175A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+22816A>G|||||||rs9608823||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29906175A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+22816A>G|||||||rs9608823||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29906175A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+22816A>G|||||||rs9608823||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29906175A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+22816A>G|||||||rs9608823||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29906175A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-3|-44|26|-44;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24358;gnomADv4_1_AC_joint_XX=12421;gnomADv4_1_AC_joint_XY=11937;gnomADv4_1_AF_grpmax_joint=0.242928;gnomADv4_1_AF_joint=0.160202;gnomADv4_1_AF_joint_XX=0.159793;gnomADv4_1_AF_joint_XY=0.160629;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2058;gnomADv4_1_nhomalt_joint_XX=1074;gnomADv4_1_nhomalt_joint_XY=984;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29906245 chr22_29906249_T_C;chr22_29906245_CGTCTGTCT_C;chr22_29906245_CGTCT_C CGTCT C 30 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=16;CADDIndel_PHREDscore=0.482;CADDIndel_Rawscore=-0.202522;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+22927_-459+22930del|||||||rs57375920||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||GTCT|GTCT|||40|chr22:g.29906286_29906289del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+22927_-138+22930del|||||||rs57375920||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||GTCT|GTCT|||40|chr22:g.29906286_29906289del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+22927_-138+22930del|||||||rs57375920||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||GTCT|GTCT|||40|chr22:g.29906286_29906289del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+22927_-138+22930del|||||||rs57375920||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||GTCT|GTCT|||40|chr22:g.29906286_29906289del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+22927_91+22930del|||||||rs57375920||1||HGNC|HGNC:7451|3||||||||Ensembl||GTCT|GTCT|||40|chr22:g.29906286_29906289del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+22927_-85+22930del|||||||rs57375920||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||GTCT|GTCT|||40|chr22:g.29906286_29906289del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+22927_181+22930del|||||||rs57375920||1||HGNC|HGNC:7451|4||||||||Ensembl||GTCT|GTCT|||40|chr22:g.29906286_29906289del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+22927_-138+22930del|||||||rs57375920||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||GTCT|GTCT|||40|chr22:g.29906286_29906289del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+22927_-138+22930del|||||||rs57375920||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||GTCT|GTCT|||40|chr22:g.29906286_29906289del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+22927_-138+22930del|||||||rs57375920||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||GTCT|GTCT|||40|chr22:g.29906286_29906289del|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|14|-49|-44|-31;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14915;gnomADv4_1_AC_joint_XX=7562;gnomADv4_1_AC_joint_XY=7353;gnomADv4_1_AF_grpmax_joint=0.172453;gnomADv4_1_AF_joint=0.141139;gnomADv4_1_AF_joint_XX=0.139814;gnomADv4_1_AF_joint_XY=0.142528;gnomADv4_1_AN_grpmax_joint=2650;gnomADv4_1_AN_joint=105676;gnomADv4_1_AN_joint_XX=54086;gnomADv4_1_AN_joint_XY=51590;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=818;gnomADv4_1_nhomalt_joint_XX=408;gnomADv4_1_nhomalt_joint_XY=410;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29906245 chr22_29906249_T_C;chr22_29906245_CGTCTGTCT_C;chr22_29906245_CGTCT_C CGTCTGTCT C 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=24;CADDIndel_PHREDscore=0.628;CADDIndel_Rawscore=-0.136271;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+22923_-459+22930del|||||||rs57375920||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||GTCTGTCT|GTCTGTCT|||36|chr22:g.29906282_29906289del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+22923_-138+22930del|||||||rs57375920||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||GTCTGTCT|GTCTGTCT|||36|chr22:g.29906282_29906289del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+22923_-138+22930del|||||||rs57375920||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||GTCTGTCT|GTCTGTCT|||36|chr22:g.29906282_29906289del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+22923_-138+22930del|||||||rs57375920||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||GTCTGTCT|GTCTGTCT|||36|chr22:g.29906282_29906289del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+22923_91+22930del|||||||rs57375920||1||HGNC|HGNC:7451|3||||||||Ensembl||GTCTGTCT|GTCTGTCT|||36|chr22:g.29906282_29906289del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+22923_-85+22930del|||||||rs57375920||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||GTCTGTCT|GTCTGTCT|||36|chr22:g.29906282_29906289del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+22923_181+22930del|||||||rs57375920||1||HGNC|HGNC:7451|4||||||||Ensembl||GTCTGTCT|GTCTGTCT|||36|chr22:g.29906282_29906289del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+22923_-138+22930del|||||||rs57375920||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||GTCTGTCT|GTCTGTCT|||36|chr22:g.29906282_29906289del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+22923_-138+22930del|||||||rs57375920||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||GTCTGTCT|GTCTGTCT|||36|chr22:g.29906282_29906289del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+22923_-138+22930del|||||||rs57375920||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||GTCTGTCT|GTCTGTCT|||36|chr22:g.29906282_29906289del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9802;gnomADv4_1_AC_joint_XX=5081;gnomADv4_1_AC_joint_XY=4721;gnomADv4_1_AF_grpmax_joint=0.124565;gnomADv4_1_AF_joint=0.0921847;gnomADv4_1_AF_joint_XX=0.0933493;gnomADv4_1_AF_joint_XY=0.0909634;gnomADv4_1_AN_grpmax_joint=36768;gnomADv4_1_AN_joint=106330;gnomADv4_1_AN_joint_XX=54430;gnomADv4_1_AN_joint_XY=51900;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=435;gnomADv4_1_nhomalt_joint_XX=216;gnomADv4_1_nhomalt_joint_XY=219;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29906249 chr22_29906249_T_C;chr22_29906245_CGTCTGTCT_C;chr22_29906245_CGTCT_C T C 30 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=.;AF_XY=0.5;AN=4;AN_XX=0;AN_XY=4;AQ=30;CADD_PHREDscore=2.414;CADD_Rawscore=0.214236;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+22890T>C|||||||rs5763593||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29906249T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+22890T>C|||||||rs5763593||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29906249T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+22890T>C|||||||rs5763593||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29906249T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+22890T>C|||||||rs5763593||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29906249T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+22890T>C|||||||rs5763593||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29906249T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+22890T>C|||||||rs5763593||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29906249T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+22890T>C|||||||rs5763593||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29906249T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+22890T>C|||||||rs5763593||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29906249T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+22890T>C|||||||rs5763593||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29906249T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+22890T>C|||||||rs5763593||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29906249T>C|||1||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-9|-43|-48|-43;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55987;gnomADv4_1_AC_joint_XX=28919;gnomADv4_1_AC_joint_XY=27068;gnomADv4_1_AF_grpmax_joint=0.648305;gnomADv4_1_AF_joint=0.5704;gnomADv4_1_AF_joint_XX=0.571522;gnomADv4_1_AF_joint_XY=0.569206;gnomADv4_1_AN_grpmax_joint=236;gnomADv4_1_AN_joint=98154;gnomADv4_1_AN_joint_XX=50600;gnomADv4_1_AN_joint_XY=47554;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=12372;gnomADv4_1_nhomalt_joint_XX=6428;gnomADv4_1_nhomalt_joint_XY=5944;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29906274 chr22_29906274_GTCTGTCTGTCTGTCTATCTA_G;chr22_29906282_GTCTGTCTA_G;chr22_29906286_G_A GTCTGTCTGTCTGTCTATCTA G 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=36;CADDIndel_PHREDscore=0.767;CADDIndel_Rawscore=-0.085823;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+22919_-459+22938del|||||||rs1308042269||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||TCTGTCTGTCTGTCTATCTA|TCTGTCTGTCTGTCTATCTA|||3|chr22:g.29906278_29906297del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+22919_-138+22938del|||||||rs1308042269||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TCTGTCTGTCTGTCTATCTA|TCTGTCTGTCTGTCTATCTA|||3|chr22:g.29906278_29906297del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+22919_-138+22938del|||||||rs1308042269||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||TCTGTCTGTCTGTCTATCTA|TCTGTCTGTCTGTCTATCTA|||3|chr22:g.29906278_29906297del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+22919_-138+22938del|||||||rs1308042269||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||TCTGTCTGTCTGTCTATCTA|TCTGTCTGTCTGTCTATCTA|||3|chr22:g.29906278_29906297del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+22919_91+22938del|||||||rs1308042269||1||HGNC|HGNC:7451|3||||||||Ensembl||TCTGTCTGTCTGTCTATCTA|TCTGTCTGTCTGTCTATCTA|||3|chr22:g.29906278_29906297del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+22919_-85+22938del|||||||rs1308042269||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||TCTGTCTGTCTGTCTATCTA|TCTGTCTGTCTGTCTATCTA|||3|chr22:g.29906278_29906297del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+22919_181+22938del|||||||rs1308042269||1||HGNC|HGNC:7451|4||||||||Ensembl||TCTGTCTGTCTGTCTATCTA|TCTGTCTGTCTGTCTATCTA|||3|chr22:g.29906278_29906297del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+22919_-138+22938del|||||||rs1308042269||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||TCTGTCTGTCTGTCTATCTA|TCTGTCTGTCTGTCTATCTA|||3|chr22:g.29906278_29906297del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+22919_-138+22938del|||||||rs1308042269||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||TCTGTCTGTCTGTCTATCTA|TCTGTCTGTCTGTCTATCTA|||3|chr22:g.29906278_29906297del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+22919_-138+22938del|||||||rs1308042269||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||TCTGTCTGTCTGTCTATCTA|TCTGTCTGTCTGTCTATCTA|||3|chr22:g.29906278_29906297del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10090;gnomADv4_1_AC_joint_XX=5241;gnomADv4_1_AC_joint_XY=4849;gnomADv4_1_AF_grpmax_joint=0.12755;gnomADv4_1_AF_joint=0.0823687;gnomADv4_1_AF_joint_XX=0.0832883;gnomADv4_1_AF_joint_XY=0.0813973;gnomADv4_1_AN_grpmax_joint=13038;gnomADv4_1_AN_joint=122498;gnomADv4_1_AN_joint_XX=62926;gnomADv4_1_AN_joint_XY=59572;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=436;gnomADv4_1_nhomalt_joint_XX=215;gnomADv4_1_nhomalt_joint_XY=221;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29906282 chr22_29906274_GTCTGTCTGTCTGTCTATCTA_G;chr22_29906282_GTCTGTCTA_G;chr22_29906286_G_A GTCTGTCTA G 36 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=17;CADDIndel_PHREDscore=0.741;CADDIndel_Rawscore=-0.094483;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+22927_-459+22934del|||||||rs1333948572||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||TCTGTCTA|TCTGTCTA|||3|chr22:g.29906286_29906293del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+22927_-138+22934del|||||||rs1333948572||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TCTGTCTA|TCTGTCTA|||3|chr22:g.29906286_29906293del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+22927_-138+22934del|||||||rs1333948572||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||TCTGTCTA|TCTGTCTA|||3|chr22:g.29906286_29906293del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+22927_-138+22934del|||||||rs1333948572||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||TCTGTCTA|TCTGTCTA|||3|chr22:g.29906286_29906293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+22927_91+22934del|||||||rs1333948572||1||HGNC|HGNC:7451|3||||||||Ensembl||TCTGTCTA|TCTGTCTA|||3|chr22:g.29906286_29906293del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+22927_-85+22934del|||||||rs1333948572||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||TCTGTCTA|TCTGTCTA|||3|chr22:g.29906286_29906293del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+22927_181+22934del|||||||rs1333948572||1||HGNC|HGNC:7451|4||||||||Ensembl||TCTGTCTA|TCTGTCTA|||3|chr22:g.29906286_29906293del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+22927_-138+22934del|||||||rs1333948572||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||TCTGTCTA|TCTGTCTA|||3|chr22:g.29906286_29906293del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+22927_-138+22934del|||||||rs1333948572||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||TCTGTCTA|TCTGTCTA|||3|chr22:g.29906286_29906293del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+22927_-138+22934del|||||||rs1333948572||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||TCTGTCTA|TCTGTCTA|||3|chr22:g.29906286_29906293del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1185;gnomADv4_1_AC_joint_XX=594;gnomADv4_1_AC_joint_XY=591;gnomADv4_1_AF_grpmax_joint=0.0334838;gnomADv4_1_AF_joint=0.0135175;gnomADv4_1_AF_joint_XX=0.0132637;gnomADv4_1_AF_joint_XY=0.0137826;gnomADv4_1_AN_grpmax_joint=2658;gnomADv4_1_AN_joint=87664;gnomADv4_1_AN_joint_XX=44784;gnomADv4_1_AN_joint_XY=42880;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13;gnomADv4_1_nhomalt_joint_XX=4;gnomADv4_1_nhomalt_joint_XY=9;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29906286 chr22_29906274_GTCTGTCTGTCTGTCTATCTA_G;chr22_29906282_GTCTGTCTA_G;chr22_29906286_G_A G A 36 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=21;CADD_PHREDscore=0.257;CADD_Rawscore=-0.361954;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+22927G>A|||||||rs5763594||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29906286G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+22927G>A|||||||rs5763594||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29906286G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+22927G>A|||||||rs5763594||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29906286G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+22927G>A|||||||rs5763594||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29906286G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+22927G>A|||||||rs5763594||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29906286G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+22927G>A|||||||rs5763594||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29906286G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+22927G>A|||||||rs5763594||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29906286G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+22927G>A|||||||rs5763594||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29906286G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+22927G>A|||||||rs5763594||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29906286G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+22927G>A|||||||rs5763594||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29906286G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|2|-46|-9|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29877;gnomADv4_1_AC_joint_XX=15453;gnomADv4_1_AC_joint_XY=14424;gnomADv4_1_AF_grpmax_joint=0.523185;gnomADv4_1_AF_joint=0.405453;gnomADv4_1_AF_joint_XX=0.405868;gnomADv4_1_AF_joint_XY=0.405009;gnomADv4_1_AN_grpmax_joint=3278;gnomADv4_1_AN_joint=73688;gnomADv4_1_AN_joint_XX=38074;gnomADv4_1_AN_joint_XY=35614;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3257;gnomADv4_1_nhomalt_joint_XX=1663;gnomADv4_1_nhomalt_joint_XY=1594;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29906495 chr22_29906495_AT_A AT A 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=0.322;CADDIndel_Rawscore=-0.304142;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+23148del|||||||rs61528298||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T|||11|chr22:g.29906507del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+23148del|||||||rs61528298||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T|||11|chr22:g.29906507del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+23148del|||||||rs61528298||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T|||11|chr22:g.29906507del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+23148del|||||||rs61528298||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T|||11|chr22:g.29906507del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+23148del|||||||rs61528298||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T|||11|chr22:g.29906507del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+23148del|||||||rs61528298||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T|||11|chr22:g.29906507del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+23148del|||||||rs61528298||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T|||11|chr22:g.29906507del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+23148del|||||||rs61528298||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T|||11|chr22:g.29906507del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+23148del|||||||rs61528298||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T|||11|chr22:g.29906507del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+23148del|||||||rs61528298||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T|||11|chr22:g.29906507del|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|28|26|12|26;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=136080;gnomADv4_1_AC_joint_XX=69737;gnomADv4_1_AC_joint_XY=66343;gnomADv4_1_AF_grpmax_joint=0.996782;gnomADv4_1_AF_joint=0.917909;gnomADv4_1_AF_joint_XX=0.9167;gnomADv4_1_AF_joint_XY=0.919184;gnomADv4_1_AN_grpmax_joint=4972;gnomADv4_1_AN_joint=148250;gnomADv4_1_AN_joint_XX=76074;gnomADv4_1_AN_joint_XY=72176;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=62482;gnomADv4_1_nhomalt_joint_XX=31991;gnomADv4_1_nhomalt_joint_XY=30491;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29907077 chr22_29907077_A_G A G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.777;CADD_Rawscore=-0.082506;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+23718A>G|||||||rs9614105||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29907077A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+23718A>G|||||||rs9614105||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29907077A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+23718A>G|||||||rs9614105||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29907077A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+23718A>G|||||||rs9614105||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29907077A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+23718A>G|||||||rs9614105||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29907077A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+23718A>G|||||||rs9614105||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29907077A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+23718A>G|||||||rs9614105||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29907077A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+23718A>G|||||||rs9614105||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29907077A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+23718A>G|||||||rs9614105||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29907077A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+23718A>G|||||||rs9614105||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29907077A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-16|2|-6|-24;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24261;gnomADv4_1_AC_joint_XX=12388;gnomADv4_1_AC_joint_XY=11873;gnomADv4_1_AF_grpmax_joint=0.241524;gnomADv4_1_AF_joint=0.159978;gnomADv4_1_AF_joint_XX=0.159734;gnomADv4_1_AF_joint_XY=0.160234;gnomADv4_1_AN_grpmax_joint=4778;gnomADv4_1_AN_joint=151652;gnomADv4_1_AN_joint_XX=77554;gnomADv4_1_AN_joint_XY=74098;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2040;gnomADv4_1_nhomalt_joint_XX=1066;gnomADv4_1_nhomalt_joint_XY=974;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29908345 chr22_29908345_G_A G A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.368;CADD_Rawscore=-0.269899;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+24986G>A|||||||rs5752979||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29908345G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+24986G>A|||||||rs5752979||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29908345G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+24986G>A|||||||rs5752979||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29908345G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+24986G>A|||||||rs5752979||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29908345G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+24986G>A|||||||rs5752979||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29908345G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+24986G>A|||||||rs5752979||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29908345G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+24986G>A|||||||rs5752979||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29908345G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+24986G>A|||||||rs5752979||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29908345G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+24986G>A|||||||rs5752979||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29908345G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+24986G>A|||||||rs5752979||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29908345G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7X8Z|enhancer||||||||||rs5752979|||||||||||||||||||||chr22:g.29908345G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|5|-21|-40|-50;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3,ENSR22_B7X8Z;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897,.;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=142958;gnomADv4_1_AC_joint_XX=72960;gnomADv4_1_AC_joint_XY=69998;gnomADv4_1_AF_grpmax_joint=0.999614;gnomADv4_1_AF_joint=0.938439;gnomADv4_1_AF_joint_XX=0.937235;gnomADv4_1_AF_joint_XY=0.939697;gnomADv4_1_AN_grpmax_joint=5188;gnomADv4_1_AN_joint=152336;gnomADv4_1_AN_joint_XX=77846;gnomADv4_1_AN_joint_XY=74490;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67167;gnomADv4_1_nhomalt_joint_XX=34248;gnomADv4_1_nhomalt_joint_XY=32919;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29908982 chr22_29908982_C_CT C CT 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.648;CADDIndel_Rawscore=-0.12822;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+25636dup|||||||rs67722380||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||13|chr22:g.29908995dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+25636dup|||||||rs67722380||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||13|chr22:g.29908995dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+25636dup|||||||rs67722380||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||13|chr22:g.29908995dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+25636dup|||||||rs67722380||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||13|chr22:g.29908995dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+25636dup|||||||rs67722380||1||HGNC|HGNC:7451|3||||||||Ensembl||||||13|chr22:g.29908995dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+25636dup|||||||rs67722380||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||13|chr22:g.29908995dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+25636dup|||||||rs67722380||1||HGNC|HGNC:7451|4||||||||Ensembl||||||13|chr22:g.29908995dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+25636dup|||||||rs67722380||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||13|chr22:g.29908995dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+25636dup|||||||rs67722380||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||13|chr22:g.29908995dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+25636dup|||||||rs67722380||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||13|chr22:g.29908995dup|||||||||||||;SpliceAI=CT|MTMR3|0.00|0.00|0.00|0.00|41|17|17|41;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48437;gnomADv4_1_AC_joint_XX=25643;gnomADv4_1_AC_joint_XY=22794;gnomADv4_1_AF_grpmax_joint=0.607274;gnomADv4_1_AF_joint=0.347179;gnomADv4_1_AF_joint_XX=0.355629;gnomADv4_1_AF_joint_XY=0.33814;gnomADv4_1_AN_grpmax_joint=4894;gnomADv4_1_AN_joint=139516;gnomADv4_1_AN_joint_XX=72106;gnomADv4_1_AN_joint_XY=67410;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8516;gnomADv4_1_nhomalt_joint_XX=4623;gnomADv4_1_nhomalt_joint_XY=3893;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29909765 chr22_29909765_A_G A G 61 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=61;CADD_PHREDscore=2.962;CADD_Rawscore=0.270806;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+26406A>G|||||||rs5763595||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29909765A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+26406A>G|||||||rs5763595||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29909765A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+26406A>G|||||||rs5763595||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29909765A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+26406A>G|||||||rs5763595||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29909765A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+26406A>G|||||||rs5763595||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29909765A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+26406A>G|||||||rs5763595||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29909765A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+26406A>G|||||||rs5763595||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29909765A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+26406A>G|||||||rs5763595||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29909765A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+26406A>G|||||||rs5763595||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29909765A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+26406A>G|||||||rs5763595||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29909765A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|49|-19|-1|49;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=140435;gnomADv4_1_AC_joint_XX=71645;gnomADv4_1_AC_joint_XY=68790;gnomADv4_1_AF_grpmax_joint=0.999615;gnomADv4_1_AF_joint=0.922216;gnomADv4_1_AF_joint_XX=0.920721;gnomADv4_1_AF_joint_XY=0.923777;gnomADv4_1_AN_grpmax_joint=5192;gnomADv4_1_AN_joint=152280;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74466;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64829;gnomADv4_1_nhomalt_joint_XX=33026;gnomADv4_1_nhomalt_joint_XY=31803;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29909909 chr22_29909909_A_T A T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=4.103;CADD_Rawscore=0.374343;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+26550A>T|||||||rs11704655||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29909909A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+26550A>T|||||||rs11704655||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29909909A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+26550A>T|||||||rs11704655||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29909909A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+26550A>T|||||||rs11704655||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29909909A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+26550A>T|||||||rs11704655||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29909909A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+26550A>T|||||||rs11704655||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29909909A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+26550A>T|||||||rs11704655||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29909909A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+26550A>T|||||||rs11704655||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29909909A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+26550A>T|||||||rs11704655||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29909909A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+26550A>T|||||||rs11704655||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29909909A>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|-1|2|-30|-12;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40615;gnomADv4_1_AC_joint_XX=20560;gnomADv4_1_AC_joint_XY=20055;gnomADv4_1_AF_grpmax_joint=0.368203;gnomADv4_1_AF_joint=0.267408;gnomADv4_1_AF_joint_XX=0.26473;gnomADv4_1_AF_joint_XY=0.27021;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=151884;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74220;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5538;gnomADv4_1_nhomalt_joint_XX=2803;gnomADv4_1_nhomalt_joint_XY=2735;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29911246 chr22_29911246_T_C T C 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.822;CADD_Rawscore=-0.068255;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+27887T>C|||||||rs1544428||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29911246T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+27887T>C|||||||rs1544428||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29911246T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+27887T>C|||||||rs1544428||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29911246T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+27887T>C|||||||rs1544428||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29911246T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+27887T>C|||||||rs1544428||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29911246T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+27887T>C|||||||rs1544428||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29911246T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+27887T>C|||||||rs1544428||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29911246T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+27887T>C|||||||rs1544428||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29911246T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+27887T>C|||||||rs1544428||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29911246T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+27887T>C|||||||rs1544428||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29911246T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-23|-10|-23|-10;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=148602;gnomADv4_1_AC_joint_XX=75905;gnomADv4_1_AC_joint_XY=72697;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.976091;gnomADv4_1_AF_joint_XX=0.975417;gnomADv4_1_AF_joint_XY=0.976795;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152242;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72553;gnomADv4_1_nhomalt_joint_XX=37032;gnomADv4_1_nhomalt_joint_XY=35521;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29911429 chr22_29911429_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.936;CADD_Rawscore=-0.034885;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+28070A>G|||||||rs1544429||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29911429A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+28070A>G|||||||rs1544429||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29911429A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+28070A>G|||||||rs1544429||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29911429A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+28070A>G|||||||rs1544429||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29911429A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+28070A>G|||||||rs1544429||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29911429A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+28070A>G|||||||rs1544429||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29911429A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+28070A>G|||||||rs1544429||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29911429A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+28070A>G|||||||rs1544429||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29911429A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+28070A>G|||||||rs1544429||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29911429A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+28070A>G|||||||rs1544429||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29911429A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|1|-31|-28|-27;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=143031;gnomADv4_1_AC_joint_XX=73040;gnomADv4_1_AC_joint_XY=69991;gnomADv4_1_AF_grpmax_joint=0.999613;gnomADv4_1_AF_joint=0.94009;gnomADv4_1_AF_joint_XX=0.939011;gnomADv4_1_AF_joint_XY=0.94122;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=152146;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67323;gnomADv4_1_nhomalt_joint_XX=34352;gnomADv4_1_nhomalt_joint_XY=32971;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29911569 chr22_29911569_A_T A T 56 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.88;CADD_Rawscore=0.354583;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+28210A>T|||||||rs4287865||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29911569A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+28210A>T|||||||rs4287865||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29911569A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+28210A>T|||||||rs4287865||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29911569A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+28210A>T|||||||rs4287865||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29911569A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+28210A>T|||||||rs4287865||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29911569A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+28210A>T|||||||rs4287865||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29911569A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+28210A>T|||||||rs4287865||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29911569A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+28210A>T|||||||rs4287865||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29911569A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+28210A>T|||||||rs4287865||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29911569A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+28210A>T|||||||rs4287865||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29911569A>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|-42|-29|-50|-32;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53044;gnomADv4_1_AC_joint_XX=27201;gnomADv4_1_AC_joint_XY=25843;gnomADv4_1_AF_grpmax_joint=0.713811;gnomADv4_1_AF_joint=0.351821;gnomADv4_1_AF_joint_XX=0.352472;gnomADv4_1_AF_joint_XY=0.351137;gnomADv4_1_AN_grpmax_joint=5112;gnomADv4_1_AN_joint=150770;gnomADv4_1_AN_joint_XX=77172;gnomADv4_1_AN_joint_XY=73598;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10355;gnomADv4_1_nhomalt_joint_XX=5354;gnomADv4_1_nhomalt_joint_XY=5001;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29911571 chr22_29911571_A_T A T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.272;CADD_Rawscore=0.197878;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+28212A>T|||||||rs1544430||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29911571A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+28212A>T|||||||rs1544430||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29911571A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+28212A>T|||||||rs1544430||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29911571A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+28212A>T|||||||rs1544430||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29911571A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+28212A>T|||||||rs1544430||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29911571A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+28212A>T|||||||rs1544430||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29911571A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+28212A>T|||||||rs1544430||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29911571A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+28212A>T|||||||rs1544430||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29911571A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+28212A>T|||||||rs1544430||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29911571A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+28212A>T|||||||rs1544430||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29911571A>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|-6|-44|-6|-44;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=139182;gnomADv4_1_AC_joint_XX=71094;gnomADv4_1_AC_joint_XY=68088;gnomADv4_1_AF_grpmax_joint=0.99961;gnomADv4_1_AF_joint=0.922224;gnomADv4_1_AF_joint_XX=0.920787;gnomADv4_1_AF_joint_XY=0.923728;gnomADv4_1_AN_grpmax_joint=5128;gnomADv4_1_AN_joint=150920;gnomADv4_1_AN_joint_XX=77210;gnomADv4_1_AN_joint_XY=73710;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64250;gnomADv4_1_nhomalt_joint_XX=32776;gnomADv4_1_nhomalt_joint_XY=31474;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29911585 chr22_29911585_G_GT G GT 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=2.251;CADDIndel_Rawscore=0.195437;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+28239dup|||||||rs11418984||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||13|chr22:g.29911598dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+28239dup|||||||rs11418984||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||13|chr22:g.29911598dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+28239dup|||||||rs11418984||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||13|chr22:g.29911598dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+28239dup|||||||rs11418984||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||13|chr22:g.29911598dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+28239dup|||||||rs11418984||1||HGNC|HGNC:7451|3||||||||Ensembl||||||13|chr22:g.29911598dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+28239dup|||||||rs11418984||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||13|chr22:g.29911598dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+28239dup|||||||rs11418984||1||HGNC|HGNC:7451|4||||||||Ensembl||||||13|chr22:g.29911598dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+28239dup|||||||rs11418984||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||13|chr22:g.29911598dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+28239dup|||||||rs11418984||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||13|chr22:g.29911598dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+28239dup|||||||rs11418984||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||13|chr22:g.29911598dup|||||||||||||;SpliceAI=GT|MTMR3|0.00|0.00|0.00|0.00|-24|-10|48|-48;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52003;gnomADv4_1_AC_joint_XX=26994;gnomADv4_1_AC_joint_XY=25009;gnomADv4_1_AF_grpmax_joint=0.587475;gnomADv4_1_AF_joint=0.358636;gnomADv4_1_AF_joint_XX=0.362161;gnomADv4_1_AF_joint_XY=0.354909;gnomADv4_1_AN_grpmax_joint=5030;gnomADv4_1_AN_joint=145002;gnomADv4_1_AN_joint_XX=74536;gnomADv4_1_AN_joint_XY=70466;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9845;gnomADv4_1_nhomalt_joint_XX=5170;gnomADv4_1_nhomalt_joint_XY=4675;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29911625 chr22_29911625_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.415;CADD_Rawscore=0.214305;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+28266A>G|||||||rs73162731||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29911625A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+28266A>G|||||||rs73162731||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29911625A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+28266A>G|||||||rs73162731||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29911625A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+28266A>G|||||||rs73162731||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29911625A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+28266A>G|||||||rs73162731||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29911625A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+28266A>G|||||||rs73162731||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29911625A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+28266A>G|||||||rs73162731||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29911625A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+28266A>G|||||||rs73162731||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29911625A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+28266A>G|||||||rs73162731||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29911625A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+28266A>G|||||||rs73162731||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29911625A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-50|31|-1|8;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24247;gnomADv4_1_AC_joint_XX=12382;gnomADv4_1_AC_joint_XY=11865;gnomADv4_1_AF_grpmax_joint=0.243328;gnomADv4_1_AF_joint=0.160444;gnomADv4_1_AF_joint_XX=0.160061;gnomADv4_1_AF_joint_XY=0.160846;gnomADv4_1_AN_grpmax_joint=4796;gnomADv4_1_AN_joint=151124;gnomADv4_1_AN_joint_XX=77358;gnomADv4_1_AN_joint_XY=73766;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2041;gnomADv4_1_nhomalt_joint_XX=1066;gnomADv4_1_nhomalt_joint_XY=975;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29912117 chr22_29912117_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=12.5;CADD_Rawscore=1.24207;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+28758T>C|||||||rs1544431||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29912117T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+28758T>C|||||||rs1544431||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29912117T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+28758T>C|||||||rs1544431||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29912117T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+28758T>C|||||||rs1544431||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29912117T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+28758T>C|||||||rs1544431||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29912117T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+28758T>C|||||||rs1544431||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29912117T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+28758T>C|||||||rs1544431||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29912117T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+28758T>C|||||||rs1544431||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29912117T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+28758T>C|||||||rs1544431||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29912117T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+28758T>C|||||||rs1544431||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29912117T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-15|-47|27|-47;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=140381;gnomADv4_1_AC_joint_XX=71629;gnomADv4_1_AC_joint_XY=68752;gnomADv4_1_AF_grpmax_joint=0.999614;gnomADv4_1_AF_joint=0.922249;gnomADv4_1_AF_joint_XX=0.920776;gnomADv4_1_AF_joint_XY=0.923788;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152216;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64808;gnomADv4_1_nhomalt_joint_XX=33021;gnomADv4_1_nhomalt_joint_XY=31787;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29912191 chr22_29912191_T_G T G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=10.4;CADD_Rawscore=1.00623;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+28832T>G|||||||rs1544432||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29912191T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+28832T>G|||||||rs1544432||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29912191T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+28832T>G|||||||rs1544432||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29912191T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+28832T>G|||||||rs1544432||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29912191T>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+28832T>G|||||||rs1544432||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29912191T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+28832T>G|||||||rs1544432||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29912191T>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+28832T>G|||||||rs1544432||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29912191T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+28832T>G|||||||rs1544432||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29912191T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+28832T>G|||||||rs1544432||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29912191T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+28832T>G|||||||rs1544432||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29912191T>G|||1||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|48|24|47|-20;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40709;gnomADv4_1_AC_joint_XX=20595;gnomADv4_1_AC_joint_XY=20114;gnomADv4_1_AF_grpmax_joint=0.367702;gnomADv4_1_AF_joint=0.267495;gnomADv4_1_AF_joint_XX=0.264792;gnomADv4_1_AF_joint_XY=0.27032;gnomADv4_1_AN_grpmax_joint=4830;gnomADv4_1_AN_joint=152186;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5557;gnomADv4_1_nhomalt_joint_XX=2809;gnomADv4_1_nhomalt_joint_XY=2748;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29912203 chr22_29912203_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.725;CADD_Rawscore=0.12486;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+28844T>C|||||||rs1544433||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29912203T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+28844T>C|||||||rs1544433||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29912203T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+28844T>C|||||||rs1544433||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29912203T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+28844T>C|||||||rs1544433||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29912203T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+28844T>C|||||||rs1544433||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29912203T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+28844T>C|||||||rs1544433||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29912203T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+28844T>C|||||||rs1544433||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29912203T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+28844T>C|||||||rs1544433||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29912203T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+28844T>C|||||||rs1544433||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29912203T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+28844T>C|||||||rs1544433||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29912203T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|35|12|35|-32;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=140397;gnomADv4_1_AC_joint_XX=71637;gnomADv4_1_AC_joint_XY=68760;gnomADv4_1_AF_grpmax_joint=0.999615;gnomADv4_1_AF_joint=0.922269;gnomADv4_1_AF_joint_XX=0.920737;gnomADv4_1_AF_joint_XY=0.923871;gnomADv4_1_AN_grpmax_joint=5192;gnomADv4_1_AN_joint=152230;gnomADv4_1_AN_joint_XX=77804;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64817;gnomADv4_1_nhomalt_joint_XX=33026;gnomADv4_1_nhomalt_joint_XY=31791;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29913242 chr22_29913242_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.836;CADD_Rawscore=-0.063975;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+29883A>G|||||||rs7284365||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29913242A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+29883A>G|||||||rs7284365||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29913242A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+29883A>G|||||||rs7284365||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29913242A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+29883A>G|||||||rs7284365||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29913242A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+29883A>G|||||||rs7284365||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29913242A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+29883A>G|||||||rs7284365||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29913242A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+29883A>G|||||||rs7284365||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29913242A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+29883A>G|||||||rs7284365||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29913242A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+29883A>G|||||||rs7284365||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29913242A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+29883A>G|||||||rs7284365||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29913242A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-22|18|26|-21;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=140346;gnomADv4_1_AC_joint_XX=71617;gnomADv4_1_AC_joint_XY=68729;gnomADv4_1_AF_grpmax_joint=0.999614;gnomADv4_1_AF_joint=0.922225;gnomADv4_1_AF_joint_XX=0.92074;gnomADv4_1_AF_joint_XY=0.923777;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152182;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64789;gnomADv4_1_nhomalt_joint_XX=33016;gnomADv4_1_nhomalt_joint_XY=31773;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29913726 chr22_29913726_G_GT G GT 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.244;CADDIndel_Rawscore=-0.375356;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+30379dup|||||||rs546672898||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||12|chr22:g.29913738dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+30379dup|||||||rs546672898||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||12|chr22:g.29913738dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+30379dup|||||||rs546672898||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||12|chr22:g.29913738dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+30379dup|||||||rs546672898||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||12|chr22:g.29913738dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+30379dup|||||||rs546672898||1||HGNC|HGNC:7451|3||||||||Ensembl||||||12|chr22:g.29913738dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+30379dup|||||||rs546672898||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||12|chr22:g.29913738dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+30379dup|||||||rs546672898||1||HGNC|HGNC:7451|4||||||||Ensembl||||||12|chr22:g.29913738dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+30379dup|||||||rs546672898||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||12|chr22:g.29913738dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+30379dup|||||||rs546672898||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||12|chr22:g.29913738dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+30379dup|||||||rs546672898||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||12|chr22:g.29913738dup|||||||||||||;SpliceAI=GT|MTMR3|0.00|0.00|0.00|0.00|-15|17|17|16;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22920;gnomADv4_1_AC_joint_XX=11691;gnomADv4_1_AC_joint_XY=11229;gnomADv4_1_AF_grpmax_joint=0.248083;gnomADv4_1_AF_joint=0.156718;gnomADv4_1_AF_joint_XX=0.155747;gnomADv4_1_AF_joint_XY=0.157742;gnomADv4_1_AN_grpmax_joint=4696;gnomADv4_1_AN_joint=146250;gnomADv4_1_AN_joint_XX=75064;gnomADv4_1_AN_joint_XY=71186;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1815;gnomADv4_1_nhomalt_joint_XX=945;gnomADv4_1_nhomalt_joint_XY=870;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29913897 chr22_29913897_T_G T G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.346;CADD_Rawscore=-0.285531;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+30538T>G|||||||rs2107674||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29913897T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+30538T>G|||||||rs2107674||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29913897T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+30538T>G|||||||rs2107674||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29913897T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+30538T>G|||||||rs2107674||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29913897T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+30538T>G|||||||rs2107674||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29913897T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+30538T>G|||||||rs2107674||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29913897T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+30538T>G|||||||rs2107674||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29913897T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+30538T>G|||||||rs2107674||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29913897T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+30538T>G|||||||rs2107674||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29913897T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+30538T>G|||||||rs2107674||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29913897T>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-3|38|-3|11;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=143024;gnomADv4_1_AC_joint_XX=73039;gnomADv4_1_AC_joint_XY=69985;gnomADv4_1_AF_grpmax_joint=0.999613;gnomADv4_1_AF_joint=0.939983;gnomADv4_1_AF_joint_XX=0.938949;gnomADv4_1_AF_joint_XY=0.941063;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67310;gnomADv4_1_nhomalt_joint_XX=34348;gnomADv4_1_nhomalt_joint_XY=32962;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29915209 chr22_29915209_A_G A G 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=2.073;CADD_Rawscore=0.173484;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+31850A>G|||||||rs77356598||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29915209A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+31850A>G|||||||rs77356598||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29915209A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+31850A>G|||||||rs77356598||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29915209A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+31850A>G|||||||rs77356598||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29915209A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+31850A>G|||||||rs77356598||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29915209A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+31850A>G|||||||rs77356598||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29915209A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+31850A>G|||||||rs77356598||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29915209A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+31850A>G|||||||rs77356598||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29915209A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+31850A>G|||||||rs77356598||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29915209A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+31850A>G|||||||rs77356598||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29915209A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-17|45|-5|-19;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10029;gnomADv4_1_AC_joint_XX=5255;gnomADv4_1_AC_joint_XY=4774;gnomADv4_1_AF_grpmax_joint=0.0993151;gnomADv4_1_AF_joint=0.0658615;gnomADv4_1_AF_joint_XX=0.0675328;gnomADv4_1_AF_joint_XY=0.064115;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=152274;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=400;gnomADv4_1_nhomalt_joint_XX=224;gnomADv4_1_nhomalt_joint_XY=176;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29916567 chr22_29916567_G_GCTGT G GCTGT 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=3.196;CADDIndel_Rawscore=0.292947;CSQ=CTGT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+33210_-459+33211insGTCT|||||||rs3049985||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||2|chr22:g.29916569_29916570insGTCT|||||||||||||,CTGT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+33210_-138+33211insGTCT|||||||rs3049985||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||2|chr22:g.29916569_29916570insGTCT|||||||||||||,CTGT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+33210_-138+33211insGTCT|||||||rs3049985||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||2|chr22:g.29916569_29916570insGTCT|||||||||||||,CTGT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+33210_-138+33211insGTCT|||||||rs3049985||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||2|chr22:g.29916569_29916570insGTCT|||||||||||||,CTGT|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+33210_91+33211insGTCT|||||||rs3049985||1||HGNC|HGNC:7451|3||||||||Ensembl||||||2|chr22:g.29916569_29916570insGTCT|||||||||||||,CTGT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+33210_-85+33211insGTCT|||||||rs3049985||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||2|chr22:g.29916569_29916570insGTCT|||||||||||||,CTGT|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+33210_181+33211insGTCT|||||||rs3049985||1||HGNC|HGNC:7451|4||||||||Ensembl||||||2|chr22:g.29916569_29916570insGTCT|||||||||||||,CTGT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+33210_-138+33211insGTCT|||||||rs3049985||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||2|chr22:g.29916569_29916570insGTCT|||||||||||||,CTGT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+33210_-138+33211insGTCT|||||||rs3049985||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||2|chr22:g.29916569_29916570insGTCT|||||||||||||,CTGT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+33210_-138+33211insGTCT|||||||rs3049985||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||2|chr22:g.29916569_29916570insGTCT|||||||||||||;TYPE=INDEL;VEP_Allele=CTGT,CTGT,CTGT,CTGT,CTGT,CTGT,CTGT,CTGT,CTGT,CTGT;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=142833;gnomADv4_1_AC_joint_XX=72935;gnomADv4_1_AC_joint_XY=69898;gnomADv4_1_AF_grpmax_joint=0.999613;gnomADv4_1_AF_joint=0.939975;gnomADv4_1_AF_joint_XX=0.938868;gnomADv4_1_AF_joint_XY=0.941134;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=151954;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67220;gnomADv4_1_nhomalt_joint_XX=34295;gnomADv4_1_nhomalt_joint_XY=32925;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29917263 chr22_29917263_G_A G A 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=2.216;CADD_Rawscore=0.191167;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+33904G>A|||||||rs737938||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29917263G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+33904G>A|||||||rs737938||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29917263G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+33904G>A|||||||rs737938||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29917263G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+33904G>A|||||||rs737938||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29917263G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+33904G>A|||||||rs737938||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29917263G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+33904G>A|||||||rs737938||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29917263G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+33904G>A|||||||rs737938||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29917263G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+33904G>A|||||||rs737938||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29917263G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+33904G>A|||||||rs737938||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29917263G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+33904G>A|||||||rs737938||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29917263G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|2|16|45|-44;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=140419;gnomADv4_1_AC_joint_XX=71658;gnomADv4_1_AC_joint_XY=68761;gnomADv4_1_AF_grpmax_joint=0.999614;gnomADv4_1_AF_joint=0.922256;gnomADv4_1_AF_joint_XX=0.92077;gnomADv4_1_AF_joint_XY=0.92381;gnomADv4_1_AN_grpmax_joint=5186;gnomADv4_1_AN_joint=152256;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=64822;gnomADv4_1_nhomalt_joint_XX=33034;gnomADv4_1_nhomalt_joint_XY=31788;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29918103 chr22_29918103_T_G T G 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=4.718;CADD_Rawscore=0.429702;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+34744T>G|||||||rs713718||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29918103T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+34744T>G|||||||rs713718||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29918103T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+34744T>G|||||||rs713718||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29918103T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+34744T>G|||||||rs713718||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29918103T>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+34744T>G|||||||rs713718||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29918103T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+34744T>G|||||||rs713718||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29918103T>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+34744T>G|||||||rs713718||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29918103T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+34744T>G|||||||rs713718||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29918103T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+34744T>G|||||||rs713718||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29918103T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+34744T>G|||||||rs713718||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29918103T>G|||1||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|1|-30|10|-2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56405;gnomADv4_1_AC_joint_XX=28547;gnomADv4_1_AC_joint_XY=27858;gnomADv4_1_AF_grpmax_joint=0.557823;gnomADv4_1_AF_joint=0.371017;gnomADv4_1_AF_joint_XX=0.367315;gnomADv4_1_AF_joint_XY=0.374889;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11055;gnomADv4_1_nhomalt_joint_XX=5612;gnomADv4_1_nhomalt_joint_XY=5443;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29919427 chr22_29919427_G_T G T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.969;CADD_Rawscore=-0.026031;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+36068G>T|||||||rs737939||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29919427G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+36068G>T|||||||rs737939||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29919427G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+36068G>T|||||||rs737939||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29919427G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+36068G>T|||||||rs737939||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29919427G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+36068G>T|||||||rs737939||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29919427G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+36068G>T|||||||rs737939||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29919427G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+36068G>T|||||||rs737939||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29919427G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+36068G>T|||||||rs737939||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29919427G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+36068G>T|||||||rs737939||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29919427G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+36068G>T|||||||rs737939||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29919427G>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|3|-38|-2|44;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53609;gnomADv4_1_AC_joint_XX=27432;gnomADv4_1_AC_joint_XY=26177;gnomADv4_1_AF_grpmax_joint=0.716744;gnomADv4_1_AF_joint=0.352343;gnomADv4_1_AF_joint_XX=0.352796;gnomADv4_1_AF_joint_XY=0.35187;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10444;gnomADv4_1_nhomalt_joint_XX=5400;gnomADv4_1_nhomalt_joint_XY=5044;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29919747 chr22_29919747_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.159;CADD_Rawscore=-0.486674;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-459+36388T>C|||||||rs245008||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29919747T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-138+36388T>C|||||||rs245008||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29919747T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-138+36388T>C|||||||rs245008||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29919747T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-138+36388T>C|||||||rs245008||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29919747T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.91+36388T>C|||||||rs245008||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29919747T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+36388T>C|||||||rs245008||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29919747T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.181+36388T>C|||||||rs245008||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29919747T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-138+36388T>C|||||||rs245008||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29919747T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-138+36388T>C|||||||rs245008||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29919747T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-138+36388T>C|||||||rs245008||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29919747T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-42|-43|-9|19;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=95566;gnomADv4_1_AC_joint_XX=49134;gnomADv4_1_AC_joint_XY=46432;gnomADv4_1_AF_grpmax_joint=0.796433;gnomADv4_1_AF_joint=0.629254;gnomADv4_1_AF_joint_XX=0.632762;gnomADv4_1_AF_joint_XY=0.625583;gnomADv4_1_AN_grpmax_joint=5158;gnomADv4_1_AN_joint=151872;gnomADv4_1_AN_joint_XX=77650;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=30669;gnomADv4_1_nhomalt_joint_XX=15917;gnomADv4_1_nhomalt_joint_XY=14752;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29920213 chr22_29920213_C_CA C CA 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=1.02;CADDIndel_Rawscore=-0.012799;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-36812dup|||||||rs11404982||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||11|chr22:g.29920224dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-36812dup|||||||rs11404982||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||11|chr22:g.29920224dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-36812dup|||||||rs11404982||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||11|chr22:g.29920224dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-36812dup|||||||rs11404982||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||11|chr22:g.29920224dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-36812dup|||||||rs11404982||1||HGNC|HGNC:7451|3||||||||Ensembl||||||11|chr22:g.29920224dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+36865dup|||||||rs11404982||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||11|chr22:g.29920224dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-36812dup|||||||rs11404982||1||HGNC|HGNC:7451|4||||||||Ensembl||||||11|chr22:g.29920224dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-36812dup|||||||rs11404982||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||11|chr22:g.29920224dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-36812dup|||||||rs11404982||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||11|chr22:g.29920224dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-36812dup|||||||rs11404982||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||11|chr22:g.29920224dup|||||||||||||;SpliceAI=CA|MTMR3|0.00|0.00|0.00|0.00|-27|34|33|-15;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=51193;gnomADv4_1_AC_joint_XX=26387;gnomADv4_1_AC_joint_XY=24806;gnomADv4_1_AF_grpmax_joint=0.717294;gnomADv4_1_AF_joint=0.38809;gnomADv4_1_AF_joint_XX=0.387395;gnomADv4_1_AF_joint_XY=0.388833;gnomADv4_1_AN_grpmax_joint=4892;gnomADv4_1_AN_joint=131910;gnomADv4_1_AN_joint_XX=68114;gnomADv4_1_AN_joint_XY=63796;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9617;gnomADv4_1_nhomalt_joint_XX=4996;gnomADv4_1_nhomalt_joint_XY=4621;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29920981 chr22_29920981_T_TGG T TGG 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.619;CADDIndel_Rawscore=-0.139602;CSQ=GG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-36051_-458-36050dup|||||||rs150260217||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||5|chr22:g.29920985_29920986dup|||||||||||||,GG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-36051_-137-36050dup|||||||rs150260217||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||5|chr22:g.29920985_29920986dup|||||||||||||,GG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-36051_-137-36050dup|||||||rs150260217||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||5|chr22:g.29920985_29920986dup|||||||||||||,GG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-36051_-137-36050dup|||||||rs150260217||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||5|chr22:g.29920985_29920986dup|||||||||||||,GG|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-36051_92-36050dup|||||||rs150260217||1||HGNC|HGNC:7451|3||||||||Ensembl||||||5|chr22:g.29920985_29920986dup|||||||||||||,GG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+37626_-85+37627dup|||||||rs150260217||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||5|chr22:g.29920985_29920986dup|||||||||||||,GG|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-36051_182-36050dup|||||||rs150260217||1||HGNC|HGNC:7451|4||||||||Ensembl||||||5|chr22:g.29920985_29920986dup|||||||||||||,GG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-36051_-137-36050dup|||||||rs150260217||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||5|chr22:g.29920985_29920986dup|||||||||||||,GG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-36051_-137-36050dup|||||||rs150260217||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||5|chr22:g.29920985_29920986dup|||||||||||||,GG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-36051_-137-36050dup|||||||rs150260217||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||5|chr22:g.29920985_29920986dup|||||||||||||;TYPE=INDEL;VEP_Allele=GG,GG,GG,GG,GG,GG,GG,GG,GG,GG;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31880;gnomADv4_1_AC_joint_XX=17458;gnomADv4_1_AC_joint_XY=14422;gnomADv4_1_AF_grpmax_joint=0.474033;gnomADv4_1_AF_joint=0.397913;gnomADv4_1_AF_joint_XX=0.407973;gnomADv4_1_AF_joint_XY=0.386379;gnomADv4_1_AN_grpmax_joint=45904;gnomADv4_1_AN_joint=80118;gnomADv4_1_AN_joint_XX=42792;gnomADv4_1_AN_joint_XY=37326;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4638;gnomADv4_1_nhomalt_joint_XX=2667;gnomADv4_1_nhomalt_joint_XY=1971;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29921094 chr22_29921094_G_A G A 32 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=12.26;CADD_Rawscore=1.20861;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-35942G>A|||||||rs74852033||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29921094G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-35942G>A|||||||rs74852033||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29921094G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-35942G>A|||||||rs74852033||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29921094G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-35942G>A|||||||rs74852033||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29921094G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-35942G>A|||||||rs74852033||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29921094G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+37735G>A|||||||rs74852033||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29921094G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-35942G>A|||||||rs74852033||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29921094G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-35942G>A|||||||rs74852033||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29921094G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-35942G>A|||||||rs74852033||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29921094G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-35942G>A|||||||rs74852033||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29921094G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|38|-4|-5|0;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8257;gnomADv4_1_AC_joint_XX=3904;gnomADv4_1_AC_joint_XY=4353;gnomADv4_1_AF_grpmax_joint=0.165768;gnomADv4_1_AF_joint=0.0543016;gnomADv4_1_AF_joint_XX=0.0502122;gnomADv4_1_AF_joint_XY=0.0585805;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=328;gnomADv4_1_nhomalt_joint_XX=144;gnomADv4_1_nhomalt_joint_XY=184;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29921533 chr22_29921533_TC_T TC T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.13;CADDIndel_Rawscore=-0.541061;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-35501del|||||||rs34722485||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C|||1|chr22:g.29921535del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-35501del|||||||rs34722485||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C|||1|chr22:g.29921535del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-35501del|||||||rs34722485||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C|||1|chr22:g.29921535del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-35501del|||||||rs34722485||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C|||1|chr22:g.29921535del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-35501del|||||||rs34722485||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C|||1|chr22:g.29921535del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+38176del|||||||rs34722485||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C|||1|chr22:g.29921535del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-35501del|||||||rs34722485||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C|||1|chr22:g.29921535del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-35501del|||||||rs34722485||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C|||1|chr22:g.29921535del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-35501del|||||||rs34722485||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C|||1|chr22:g.29921535del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-35501del|||||||rs34722485||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C|||1|chr22:g.29921535del|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|-44|-38|26|-50;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53571;gnomADv4_1_AC_joint_XX=27418;gnomADv4_1_AC_joint_XY=26153;gnomADv4_1_AF_grpmax_joint=0.715447;gnomADv4_1_AF_joint=0.35239;gnomADv4_1_AF_joint_XX=0.352825;gnomADv4_1_AF_joint_XY=0.351935;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=152022;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10421;gnomADv4_1_nhomalt_joint_XX=5388;gnomADv4_1_nhomalt_joint_XY=5033;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29923041 chr22_29923041_A_AT A AT 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=35;CADDIndel_PHREDscore=1.14;CADDIndel_Rawscore=0.016281;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-33977dup|||||||rs36099310||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||18|chr22:g.29923059dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-33977dup|||||||rs36099310||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||18|chr22:g.29923059dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-33977dup|||||||rs36099310||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||18|chr22:g.29923059dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-33977dup|||||||rs36099310||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||18|chr22:g.29923059dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-33977dup|||||||rs36099310||1||HGNC|HGNC:7451|3||||||||Ensembl||||||18|chr22:g.29923059dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+39700dup|||||||rs36099310||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||18|chr22:g.29923059dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-33977dup|||||||rs36099310||1||HGNC|HGNC:7451|4||||||||Ensembl||||||18|chr22:g.29923059dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-33977dup|||||||rs36099310||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||18|chr22:g.29923059dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-33977dup|||||||rs36099310||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||18|chr22:g.29923059dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-33977dup|||||||rs36099310||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||18|chr22:g.29923059dup|||||||||||||;SpliceAI=AT|MTMR3|0.00|0.00|0.00|0.00|46|15|-24|16;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39281;gnomADv4_1_AC_joint_XX=21326;gnomADv4_1_AC_joint_XY=17955;gnomADv4_1_AF_grpmax_joint=0.517369;gnomADv4_1_AF_joint=0.302282;gnomADv4_1_AF_joint_XX=0.313369;gnomADv4_1_AF_joint_XY=0.290093;gnomADv4_1_AN_grpmax_joint=4318;gnomADv4_1_AN_joint=129948;gnomADv4_1_AN_joint_XX=68054;gnomADv4_1_AN_joint_XY=61894;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6690;gnomADv4_1_nhomalt_joint_XX=3750;gnomADv4_1_nhomalt_joint_XY=2940;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29923405 chr22_29923405_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.952;CADD_Rawscore=-0.030553;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-33631A>G|||||||rs36580||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29923405A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-33631A>G|||||||rs36580||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29923405A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-33631A>G|||||||rs36580||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29923405A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-33631A>G|||||||rs36580||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29923405A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-33631A>G|||||||rs36580||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29923405A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+40046A>G|||||||rs36580||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29923405A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-33631A>G|||||||rs36580||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29923405A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-33631A>G|||||||rs36580||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29923405A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-33631A>G|||||||rs36580||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29923405A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-33631A>G|||||||rs36580||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29923405A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-15|11|-44|-33;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119286;gnomADv4_1_AC_joint_XX=61271;gnomADv4_1_AC_joint_XY=58015;gnomADv4_1_AF_grpmax_joint=0.921125;gnomADv4_1_AF_joint=0.788699;gnomADv4_1_AF_joint_XX=0.791349;gnomADv4_1_AF_joint_XY=0.785919;gnomADv4_1_AN_grpmax_joint=5122;gnomADv4_1_AN_joint=151244;gnomADv4_1_AN_joint_XX=77426;gnomADv4_1_AN_joint_XY=73818;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=47516;gnomADv4_1_nhomalt_joint_XX=24537;gnomADv4_1_nhomalt_joint_XY=22979;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29924473 chr22_29924473_GT_G GT G 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=6.098;CADDIndel_Rawscore=0.56309;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-32562del|||||||rs60568937||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29924474del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-32562del|||||||rs60568937||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29924474del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-32562del|||||||rs60568937||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29924474del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-32562del|||||||rs60568937||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29924474del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-32562del|||||||rs60568937||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29924474del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+41115del|||||||rs60568937||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29924474del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-32562del|||||||rs60568937||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29924474del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-32562del|||||||rs60568937||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29924474del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-32562del|||||||rs60568937||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29924474del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-32562del|||||||rs60568937||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29924474del|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-7|-1|21|-1;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44435;gnomADv4_1_AC_joint_XX=23185;gnomADv4_1_AC_joint_XY=21250;gnomADv4_1_AF_grpmax_joint=0.606672;gnomADv4_1_AF_joint=0.292312;gnomADv4_1_AF_joint_XX=0.298314;gnomADv4_1_AF_joint_XY=0.286033;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152012;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74292;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7626;gnomADv4_1_nhomalt_joint_XX=4099;gnomADv4_1_nhomalt_joint_XY=3527;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29926093 chr22_29926093_C_A C A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.749;CADD_Rawscore=0.128481;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-30943C>A|||||||rs73162743||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29926093C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-30943C>A|||||||rs73162743||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29926093C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-30943C>A|||||||rs73162743||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29926093C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-30943C>A|||||||rs73162743||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29926093C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-30943C>A|||||||rs73162743||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29926093C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-85+42734C>A|||||||rs73162743||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29926093C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-30943C>A|||||||rs73162743||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29926093C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-30943C>A|||||||rs73162743||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29926093C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-30943C>A|||||||rs73162743||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29926093C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-30943C>A|||||||rs73162743||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29926093C>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|24|39|7|-12;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9924;gnomADv4_1_AC_joint_XX=5209;gnomADv4_1_AC_joint_XY=4715;gnomADv4_1_AF_grpmax_joint=0.102041;gnomADv4_1_AF_joint=0.0652088;gnomADv4_1_AF_joint_XX=0.0669744;gnomADv4_1_AF_joint_XY=0.0633634;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152188;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=393;gnomADv4_1_nhomalt_joint_XX=220;gnomADv4_1_nhomalt_joint_XY=173;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29927939 chr22_29927939_G_GTTTT G GTTTT 21 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=21;CADDIndel_PHREDscore=0.496;CADDIndel_Rawscore=-0.195095;CSQ=TTTT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-29081_-458-29078dup|||||||rs764629136||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||19|chr22:g.29927955_29927958dup|||||||||||||,TTTT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-29081_-137-29078dup|||||||rs764629136||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||19|chr22:g.29927955_29927958dup|||||||||||||,TTTT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-29081_-137-29078dup|||||||rs764629136||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||19|chr22:g.29927955_29927958dup|||||||||||||,TTTT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-29081_-137-29078dup|||||||rs764629136||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||19|chr22:g.29927955_29927958dup|||||||||||||,TTTT|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-29081_92-29078dup|||||||rs764629136||1||HGNC|HGNC:7451|3||||||||Ensembl||||||19|chr22:g.29927955_29927958dup|||||||||||||,TTTT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-43021_-84-43018dup|||||||rs764629136||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||19|chr22:g.29927955_29927958dup|||||||||||||,TTTT|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-29081_182-29078dup|||||||rs764629136||1||HGNC|HGNC:7451|4||||||||Ensembl||||||19|chr22:g.29927955_29927958dup|||||||||||||,TTTT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-29081_-137-29078dup|||||||rs764629136||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||19|chr22:g.29927955_29927958dup|||||||||||||,TTTT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-29081_-137-29078dup|||||||rs764629136||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||19|chr22:g.29927955_29927958dup|||||||||||||,TTTT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-29081_-137-29078dup|||||||rs764629136||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||19|chr22:g.29927955_29927958dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20820;gnomADv4_1_AC_joint_XX=11693;gnomADv4_1_AC_joint_XY=9127;gnomADv4_1_AF_grpmax_joint=0.484012;gnomADv4_1_AF_joint=0.194772;gnomADv4_1_AF_joint_XX=0.203853;gnomADv4_1_AF_joint_XY=0.184257;gnomADv4_1_AN_grpmax_joint=3440;gnomADv4_1_AN_joint=106894;gnomADv4_1_AN_joint_XX=57360;gnomADv4_1_AN_joint_XY=49534;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2729;gnomADv4_1_nhomalt_joint_XX=1527;gnomADv4_1_nhomalt_joint_XY=1202;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29928171 chr22_29928171_CT_C CT C 41 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=41;CADDIndel_PHREDscore=1.138;CADDIndel_Rawscore=0.015817;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-28846del|||||||rs66896756||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T|||18|chr22:g.29928190del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-28846del|||||||rs66896756||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T|||18|chr22:g.29928190del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-28846del|||||||rs66896756||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T|||18|chr22:g.29928190del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-28846del|||||||rs66896756||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T|||18|chr22:g.29928190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-28846del|||||||rs66896756||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T|||18|chr22:g.29928190del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-42786del|||||||rs66896756||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T|||18|chr22:g.29928190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-28846del|||||||rs66896756||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T|||18|chr22:g.29928190del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-28846del|||||||rs66896756||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T|||18|chr22:g.29928190del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-28846del|||||||rs66896756||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T|||18|chr22:g.29928190del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-28846del|||||||rs66896756||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T|||18|chr22:g.29928190del|||||||||||||;SpliceAI=C|MTMR3|0.01|0.00|0.00|0.00|22|2|-23|-29;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65477;gnomADv4_1_AC_joint_XX=35536;gnomADv4_1_AC_joint_XY=29941;gnomADv4_1_AF_grpmax_joint=0.77479;gnomADv4_1_AF_joint=0.608488;gnomADv4_1_AF_joint_XX=0.615491;gnomADv4_1_AF_joint_XY=0.600381;gnomADv4_1_AN_grpmax_joint=3570;gnomADv4_1_AN_joint=107606;gnomADv4_1_AN_joint_XX=57736;gnomADv4_1_AN_joint_XY=49870;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19314;gnomADv4_1_nhomalt_joint_XX=10559;gnomADv4_1_nhomalt_joint_XY=8755;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29928674 chr22_29928674_T_A T A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.008;CADD_Rawscore=-1.35095;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-28362T>A|||||||rs36582||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29928674T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-28362T>A|||||||rs36582||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29928674T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-28362T>A|||||||rs36582||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29928674T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-28362T>A|||||||rs36582||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29928674T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-28362T>A|||||||rs36582||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29928674T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-42302T>A|||||||rs36582||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29928674T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-28362T>A|||||||rs36582||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29928674T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-28362T>A|||||||rs36582||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29928674T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-28362T>A|||||||rs36582||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29928674T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-28362T>A|||||||rs36582||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29928674T>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|26|12|23|26;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119270;gnomADv4_1_AC_joint_XX=61280;gnomADv4_1_AC_joint_XY=57990;gnomADv4_1_AF_grpmax_joint=0.916053;gnomADv4_1_AF_joint=0.789209;gnomADv4_1_AF_joint_XX=0.792448;gnomADv4_1_AF_joint_XY=0.785815;gnomADv4_1_AN_grpmax_joint=41252;gnomADv4_1_AN_joint=151126;gnomADv4_1_AN_joint_XX=77330;gnomADv4_1_AN_joint_XY=73796;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=47539;gnomADv4_1_nhomalt_joint_XX=24578;gnomADv4_1_nhomalt_joint_XY=22961;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29928846 chr22_29928846_T_G T G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.304;CADD_Rawscore=0.201609;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-28190T>G|||||||rs36584||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29928846T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-28190T>G|||||||rs36584||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29928846T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-28190T>G|||||||rs36584||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29928846T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-28190T>G|||||||rs36584||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29928846T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-28190T>G|||||||rs36584||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29928846T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-42130T>G|||||||rs36584||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29928846T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-28190T>G|||||||rs36584||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29928846T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-28190T>G|||||||rs36584||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29928846T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-28190T>G|||||||rs36584||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29928846T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-28190T>G|||||||rs36584||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29928846T>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-7|29|-1|27;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151244;gnomADv4_1_AC_joint_XX=77272;gnomADv4_1_AC_joint_XY=73972;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.99321;gnomADv4_1_AF_joint_XX=0.992907;gnomADv4_1_AF_joint_XY=0.993526;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152278;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=74454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=75106;gnomADv4_1_nhomalt_joint_XX=38360;gnomADv4_1_nhomalt_joint_XY=36746;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29929049 chr22_29929049_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.258;CADD_Rawscore=0.196235;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-27987A>G|||||||rs36586||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29929049A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-27987A>G|||||||rs36586||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29929049A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-27987A>G|||||||rs36586||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29929049A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-27987A>G|||||||rs36586||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29929049A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-27987A>G|||||||rs36586||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29929049A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-41927A>G|||||||rs36586||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29929049A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-27987A>G|||||||rs36586||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29929049A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-27987A>G|||||||rs36586||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29929049A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-27987A>G|||||||rs36586||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29929049A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-27987A>G|||||||rs36586||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29929049A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-17|-6|-1|17;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=120461;gnomADv4_1_AC_joint_XX=61809;gnomADv4_1_AC_joint_XY=58652;gnomADv4_1_AF_grpmax_joint=0.918797;gnomADv4_1_AF_joint=0.792632;gnomADv4_1_AF_joint_XX=0.79538;gnomADv4_1_AF_joint_XY=0.789756;gnomADv4_1_AN_grpmax_joint=5086;gnomADv4_1_AN_joint=151976;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=48298;gnomADv4_1_nhomalt_joint_XX=24915;gnomADv4_1_nhomalt_joint_XY=23383;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29929061 chr22_29929061_C_A C A 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=2.682;CADD_Rawscore=0.242939;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-27975C>A|||||||rs9614108||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29929061C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-27975C>A|||||||rs9614108||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29929061C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-27975C>A|||||||rs9614108||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29929061C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-27975C>A|||||||rs9614108||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29929061C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-27975C>A|||||||rs9614108||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29929061C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-41915C>A|||||||rs9614108||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29929061C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-27975C>A|||||||rs9614108||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29929061C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-27975C>A|||||||rs9614108||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29929061C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-27975C>A|||||||rs9614108||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29929061C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-27975C>A|||||||rs9614108||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29929061C>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|-12|-8|5|-14;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24415;gnomADv4_1_AC_joint_XX=12454;gnomADv4_1_AC_joint_XY=11961;gnomADv4_1_AF_grpmax_joint=0.243462;gnomADv4_1_AF_joint=0.160646;gnomADv4_1_AF_joint_XX=0.160287;gnomADv4_1_AF_joint_XY=0.161022;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=151980;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=74282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2064;gnomADv4_1_nhomalt_joint_XX=1076;gnomADv4_1_nhomalt_joint_XY=988;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29929162 chr22_29929162_T_C T C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=4.393;CADD_Rawscore=0.400268;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-27874T>C|||||||rs9614109||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29929162T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-27874T>C|||||||rs9614109||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29929162T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-27874T>C|||||||rs9614109||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29929162T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-27874T>C|||||||rs9614109||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29929162T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-27874T>C|||||||rs9614109||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29929162T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-41814T>C|||||||rs9614109||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29929162T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-27874T>C|||||||rs9614109||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29929162T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-27874T>C|||||||rs9614109||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29929162T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-27874T>C|||||||rs9614109||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29929162T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-27874T>C|||||||rs9614109||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29929162T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|17|6|-26|-5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24371;gnomADv4_1_AC_joint_XX=12442;gnomADv4_1_AC_joint_XY=11929;gnomADv4_1_AF_grpmax_joint=0.243119;gnomADv4_1_AF_joint=0.160481;gnomADv4_1_AF_joint_XX=0.160166;gnomADv4_1_AF_joint_XY=0.160812;gnomADv4_1_AN_grpmax_joint=4796;gnomADv4_1_AN_joint=151862;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74180;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2059;gnomADv4_1_nhomalt_joint_XX=1075;gnomADv4_1_nhomalt_joint_XY=984;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29930113 chr22_29930113_A_G A G 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.597;CADD_Rawscore=-0.148879;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-26923A>G|||||||rs7291756||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29930113A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-26923A>G|||||||rs7291756||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29930113A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-26923A>G|||||||rs7291756||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29930113A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-26923A>G|||||||rs7291756||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29930113A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-26923A>G|||||||rs7291756||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29930113A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-40863A>G|||||||rs7291756||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29930113A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-26923A>G|||||||rs7291756||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29930113A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-26923A>G|||||||rs7291756||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29930113A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-26923A>G|||||||rs7291756||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29930113A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-26923A>G|||||||rs7291756||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29930113A>G|||1||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-32|-9|30|-7;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40652;gnomADv4_1_AC_joint_XX=20573;gnomADv4_1_AC_joint_XY=20079;gnomADv4_1_AF_grpmax_joint=0.367909;gnomADv4_1_AF_joint=0.267201;gnomADv4_1_AF_joint_XX=0.264516;gnomADv4_1_AF_joint_XY=0.27001;gnomADv4_1_AN_grpmax_joint=4830;gnomADv4_1_AN_joint=152140;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5542;gnomADv4_1_nhomalt_joint_XX=2811;gnomADv4_1_nhomalt_joint_XY=2731;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29931013 chr22_29931013_GA_G GA G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=35;CADDIndel_PHREDscore=0.535;CADDIndel_Rawscore=-0.176241;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-26004del|||||||rs963131752||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A|||18|chr22:g.29931032del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-26004del|||||||rs963131752||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A|||18|chr22:g.29931032del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-26004del|||||||rs963131752||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A|||18|chr22:g.29931032del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-26004del|||||||rs963131752||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A|||18|chr22:g.29931032del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-26004del|||||||rs963131752||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A|||18|chr22:g.29931032del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-39944del|||||||rs963131752||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A|||18|chr22:g.29931032del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-26004del|||||||rs963131752||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A|||18|chr22:g.29931032del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-26004del|||||||rs963131752||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A|||18|chr22:g.29931032del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-26004del|||||||rs963131752||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A|||18|chr22:g.29931032del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-26004del|||||||rs963131752||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A|||18|chr22:g.29931032del|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-34|43|46|37;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11660;gnomADv4_1_AC_joint_XX=5882;gnomADv4_1_AC_joint_XY=5778;gnomADv4_1_AF_grpmax_joint=0.261969;gnomADv4_1_AF_joint=0.161778;gnomADv4_1_AF_joint_XX=0.156619;gnomADv4_1_AF_joint_XY=0.167391;gnomADv4_1_AN_grpmax_joint=7394;gnomADv4_1_AN_joint=72074;gnomADv4_1_AN_joint_XX=37556;gnomADv4_1_AN_joint_XY=34518;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=464;gnomADv4_1_nhomalt_joint_XX=237;gnomADv4_1_nhomalt_joint_XY=227;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29931780 chr22_29931780_C_CT;chr22_29931780_C_CTT C CT 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADDIndel_PHREDscore=0.319;CADDIndel_Rawscore=-0.306726;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-25239dup|||||||rs34210747||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||17|chr22:g.29931797dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-25239dup|||||||rs34210747||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||17|chr22:g.29931797dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-25239dup|||||||rs34210747||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||17|chr22:g.29931797dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-25239dup|||||||rs34210747||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||17|chr22:g.29931797dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-25239dup|||||||rs34210747||1||HGNC|HGNC:7451|3||||||||Ensembl||||||17|chr22:g.29931797dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-39179dup|||||||rs34210747||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||17|chr22:g.29931797dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-25239dup|||||||rs34210747||1||HGNC|HGNC:7451|4||||||||Ensembl||||||17|chr22:g.29931797dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-25239dup|||||||rs34210747||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||17|chr22:g.29931797dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-25239dup|||||||rs34210747||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||17|chr22:g.29931797dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-25239dup|||||||rs34210747||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||17|chr22:g.29931797dup|||||||||||||;SpliceAI=CT|MTMR3|0.00|0.00|0.00|0.00|-25|25|47|25;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28357;gnomADv4_1_AC_joint_XX=14317;gnomADv4_1_AC_joint_XY=14040;gnomADv4_1_AF_grpmax_joint=0.468416;gnomADv4_1_AF_joint=0.201319;gnomADv4_1_AF_joint_XX=0.19571;gnomADv4_1_AF_joint_XY=0.207379;gnomADv4_1_AN_grpmax_joint=4496;gnomADv4_1_AN_joint=140856;gnomADv4_1_AN_joint_XX=73154;gnomADv4_1_AN_joint_XY=67702;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3079;gnomADv4_1_nhomalt_joint_XX=1508;gnomADv4_1_nhomalt_joint_XY=1571;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29931780 chr22_29931780_C_CT;chr22_29931780_C_CTT C CTT 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=31;CADDIndel_PHREDscore=0.312;CADDIndel_Rawscore=-0.311633;CSQ=TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-25240_-458-25239dup|||||||rs34210747||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||17|chr22:g.29931796_29931797dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-25240_-137-25239dup|||||||rs34210747||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||17|chr22:g.29931796_29931797dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-25240_-137-25239dup|||||||rs34210747||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||17|chr22:g.29931796_29931797dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-25240_-137-25239dup|||||||rs34210747||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||17|chr22:g.29931796_29931797dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-25240_92-25239dup|||||||rs34210747||1||HGNC|HGNC:7451|3||||||||Ensembl||||||17|chr22:g.29931796_29931797dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-39180_-84-39179dup|||||||rs34210747||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||17|chr22:g.29931796_29931797dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-25240_182-25239dup|||||||rs34210747||1||HGNC|HGNC:7451|4||||||||Ensembl||||||17|chr22:g.29931796_29931797dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-25240_-137-25239dup|||||||rs34210747||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||17|chr22:g.29931796_29931797dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-25240_-137-25239dup|||||||rs34210747||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||17|chr22:g.29931796_29931797dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-25240_-137-25239dup|||||||rs34210747||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||17|chr22:g.29931796_29931797dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62679;gnomADv4_1_AC_joint_XX=32971;gnomADv4_1_AC_joint_XY=29708;gnomADv4_1_AF_grpmax_joint=0.730392;gnomADv4_1_AF_joint=0.4451;gnomADv4_1_AF_joint_XX=0.450731;gnomADv4_1_AF_joint_XY=0.439013;gnomADv4_1_AN_grpmax_joint=4896;gnomADv4_1_AN_joint=140820;gnomADv4_1_AN_joint_XX=73150;gnomADv4_1_AN_joint_XY=67670;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14472;gnomADv4_1_nhomalt_joint_XX=7734;gnomADv4_1_nhomalt_joint_XY=6738;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29932081 chr22_29932081_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.371;CADD_Rawscore=0.064424;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-24955T>C|||||||rs36590||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29932081T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-24955T>C|||||||rs36590||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29932081T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-24955T>C|||||||rs36590||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29932081T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-24955T>C|||||||rs36590||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29932081T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-24955T>C|||||||rs36590||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29932081T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-38895T>C|||||||rs36590||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29932081T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-24955T>C|||||||rs36590||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29932081T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-24955T>C|||||||rs36590||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29932081T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-24955T>C|||||||rs36590||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29932081T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-24955T>C|||||||rs36590||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29932081T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|40|9|40|-27;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119098;gnomADv4_1_AC_joint_XX=61105;gnomADv4_1_AC_joint_XY=57993;gnomADv4_1_AF_grpmax_joint=0.913261;gnomADv4_1_AF_joint=0.782551;gnomADv4_1_AF_joint_XX=0.78531;gnomADv4_1_AF_joint_XY=0.779664;gnomADv4_1_AN_grpmax_joint=5188;gnomADv4_1_AN_joint=152192;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=47018;gnomADv4_1_nhomalt_joint_XX=24254;gnomADv4_1_nhomalt_joint_XY=22764;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29932774 chr22_29932774_G_A G A 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=4.282;CADD_Rawscore=0.390331;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-24262G>A|||||||rs36591||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29932774G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-24262G>A|||||||rs36591||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29932774G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-24262G>A|||||||rs36591||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29932774G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-24262G>A|||||||rs36591||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29932774G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-24262G>A|||||||rs36591||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29932774G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-38202G>A|||||||rs36591||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29932774G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-24262G>A|||||||rs36591||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29932774G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-24262G>A|||||||rs36591||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29932774G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-24262G>A|||||||rs36591||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29932774G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-24262G>A|||||||rs36591||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29932774G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|16|-33|-41|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=120548;gnomADv4_1_AC_joint_XX=61847;gnomADv4_1_AC_joint_XY=58701;gnomADv4_1_AF_grpmax_joint=0.91976;gnomADv4_1_AF_joint=0.792599;gnomADv4_1_AF_joint_XX=0.79548;gnomADv4_1_AF_joint_XY=0.789586;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=48330;gnomADv4_1_nhomalt_joint_XX=24931;gnomADv4_1_nhomalt_joint_XY=23399;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29935301 chr22_29935301_A_G A G 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=5.904;CADD_Rawscore=0.543521;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-21735A>G|||||||rs5763614||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29935301A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-21735A>G|||||||rs5763614||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29935301A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-21735A>G|||||||rs5763614||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29935301A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-21735A>G|||||||rs5763614||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29935301A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-21735A>G|||||||rs5763614||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29935301A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-35675A>G|||||||rs5763614||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29935301A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-21735A>G|||||||rs5763614||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29935301A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-21735A>G|||||||rs5763614||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29935301A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-21735A>G|||||||rs5763614||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29935301A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-21735A>G|||||||rs5763614||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29935301A>G|||1||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|1|-2|1|-2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44554;gnomADv4_1_AC_joint_XX=23252;gnomADv4_1_AC_joint_XY=21302;gnomADv4_1_AF_grpmax_joint=0.607725;gnomADv4_1_AF_joint=0.292976;gnomADv4_1_AF_joint_XX=0.29903;gnomADv4_1_AF_joint_XY=0.286641;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7680;gnomADv4_1_nhomalt_joint_XX=4126;gnomADv4_1_nhomalt_joint_XY=3554;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29935742 chr22_29935742_C_CT C CT 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADDIndel_PHREDscore=0.638;CADDIndel_Rawscore=-0.132059;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-21276dup|||||||rs35840801||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||18|chr22:g.29935760dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-21276dup|||||||rs35840801||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||18|chr22:g.29935760dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-21276dup|||||||rs35840801||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||18|chr22:g.29935760dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-21276dup|||||||rs35840801||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||18|chr22:g.29935760dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-21276dup|||||||rs35840801||1||HGNC|HGNC:7451|3||||||||Ensembl||||||18|chr22:g.29935760dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-35216dup|||||||rs35840801||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||18|chr22:g.29935760dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-21276dup|||||||rs35840801||1||HGNC|HGNC:7451|4||||||||Ensembl||||||18|chr22:g.29935760dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-21276dup|||||||rs35840801||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||18|chr22:g.29935760dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-21276dup|||||||rs35840801||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||18|chr22:g.29935760dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-21276dup|||||||rs35840801||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||18|chr22:g.29935760dup|||||||||||||;SpliceAI=CT|MTMR3|0.00|0.00|0.00|0.00|26|22|22|5;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90617;gnomADv4_1_AC_joint_XX=48506;gnomADv4_1_AC_joint_XY=42111;gnomADv4_1_AF_grpmax_joint=0.902917;gnomADv4_1_AF_joint=0.720784;gnomADv4_1_AF_joint_XX=0.724121;gnomADv4_1_AF_joint_XY=0.716978;gnomADv4_1_AN_grpmax_joint=4388;gnomADv4_1_AN_joint=125720;gnomADv4_1_AN_joint_XX=66986;gnomADv4_1_AN_joint_XY=58734;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=33328;gnomADv4_1_nhomalt_joint_XX=17847;gnomADv4_1_nhomalt_joint_XY=15481;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chr22 29937419 chr22_29937419_A_AT A AT 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=2.345;CADDIndel_Rawscore=0.206416;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-19603dup|||||||rs5844882||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||14|chr22:g.29937433dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-19603dup|||||||rs5844882||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||14|chr22:g.29937433dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-19603dup|||||||rs5844882||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||14|chr22:g.29937433dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-19603dup|||||||rs5844882||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||14|chr22:g.29937433dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-19603dup|||||||rs5844882||1||HGNC|HGNC:7451|3||||||||Ensembl||||||14|chr22:g.29937433dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-33543dup|||||||rs5844882||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||14|chr22:g.29937433dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-19603dup|||||||rs5844882||1||HGNC|HGNC:7451|4||||||||Ensembl||||||14|chr22:g.29937433dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-19603dup|||||||rs5844882||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||14|chr22:g.29937433dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-19603dup|||||||rs5844882||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||14|chr22:g.29937433dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-19603dup|||||||rs5844882||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||14|chr22:g.29937433dup|||||||||||||;SpliceAI=AT|MTMR3|0.00|0.00|0.00|0.00|22|0|-38|22;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=95650;gnomADv4_1_AC_joint_XX=49754;gnomADv4_1_AC_joint_XY=45896;gnomADv4_1_AF_grpmax_joint=0.827974;gnomADv4_1_AF_joint=0.663048;gnomADv4_1_AF_joint_XX=0.66897;gnomADv4_1_AF_joint_XY=0.656745;gnomADv4_1_AN_grpmax_joint=4976;gnomADv4_1_AN_joint=144258;gnomADv4_1_AN_joint_XX=74374;gnomADv4_1_AN_joint_XY=69884;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=31863;gnomADv4_1_nhomalt_joint_XX=16745;gnomADv4_1_nhomalt_joint_XY=15118;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29938393 chr22_29938393_C_T C T 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.613;CADD_Rawscore=0.107159;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-18643C>T|||||||rs36594||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29938393C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-18643C>T|||||||rs36594||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29938393C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-18643C>T|||||||rs36594||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29938393C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-18643C>T|||||||rs36594||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29938393C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-18643C>T|||||||rs36594||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29938393C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-32583C>T|||||||rs36594||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29938393C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-18643C>T|||||||rs36594||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29938393C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-18643C>T|||||||rs36594||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29938393C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-18643C>T|||||||rs36594||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29938393C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-18643C>T|||||||rs36594||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29938393C>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|21|-8|21|13;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119035;gnomADv4_1_AC_joint_XX=61072;gnomADv4_1_AC_joint_XY=57963;gnomADv4_1_AF_grpmax_joint=0.913035;gnomADv4_1_AF_joint=0.782034;gnomADv4_1_AF_joint_XX=0.784886;gnomADv4_1_AF_joint_XY=0.779052;gnomADv4_1_AN_grpmax_joint=5186;gnomADv4_1_AN_joint=152212;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74402;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46981;gnomADv4_1_nhomalt_joint_XX=24236;gnomADv4_1_nhomalt_joint_XY=22745;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29939280 chr22_29939280_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.528;CADD_Rawscore=0.323215;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-17756A>G|||||||rs36596||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29939280A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-17756A>G|||||||rs36596||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29939280A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-17756A>G|||||||rs36596||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29939280A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-17756A>G|||||||rs36596||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29939280A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-17756A>G|||||||rs36596||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29939280A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-31696A>G|||||||rs36596||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29939280A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-17756A>G|||||||rs36596||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29939280A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-17756A>G|||||||rs36596||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29939280A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-17756A>G|||||||rs36596||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29939280A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-17756A>G|||||||rs36596||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29939280A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|13|-3|-31|-3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119200;gnomADv4_1_AC_joint_XX=61108;gnomADv4_1_AC_joint_XY=58092;gnomADv4_1_AF_grpmax_joint=0.919753;gnomADv4_1_AF_joint=0.783376;gnomADv4_1_AF_joint_XX=0.785652;gnomADv4_1_AF_joint_XY=0.780995;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74382;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=47128;gnomADv4_1_nhomalt_joint_XX=24278;gnomADv4_1_nhomalt_joint_XY=22850;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29940124 chr22_29940124_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.489;CADD_Rawscore=-0.198476;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-16912C>T|||||||rs9680595||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29940124C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-16912C>T|||||||rs9680595||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29940124C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-16912C>T|||||||rs9680595||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29940124C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-16912C>T|||||||rs9680595||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29940124C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-16912C>T|||||||rs9680595||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29940124C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-30852C>T|||||||rs9680595||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29940124C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-16912C>T|||||||rs9680595||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29940124C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-16912C>T|||||||rs9680595||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29940124C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-16912C>T|||||||rs9680595||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29940124C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-16912C>T|||||||rs9680595||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29940124C>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|25|-1|-2|-40;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24443;gnomADv4_1_AC_joint_XX=12480;gnomADv4_1_AC_joint_XY=11963;gnomADv4_1_AF_grpmax_joint=0.251891;gnomADv4_1_AF_joint=0.16082;gnomADv4_1_AF_joint_XX=0.160576;gnomADv4_1_AF_joint_XY=0.161074;gnomADv4_1_AN_grpmax_joint=4760;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74270;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2119;gnomADv4_1_nhomalt_joint_XX=1100;gnomADv4_1_nhomalt_joint_XY=1019;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29940417 chr22_29940417_A_C A C 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.421;CADD_Rawscore=-0.236476;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-16619A>C|||||||rs36598||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29940417A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-16619A>C|||||||rs36598||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29940417A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-16619A>C|||||||rs36598||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29940417A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-16619A>C|||||||rs36598||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29940417A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-16619A>C|||||||rs36598||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29940417A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-30559A>C|||||||rs36598||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29940417A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-16619A>C|||||||rs36598||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29940417A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-16619A>C|||||||rs36598||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29940417A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-16619A>C|||||||rs36598||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29940417A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-16619A>C|||||||rs36598||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29940417A>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|18|2|-37|32;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=116150;gnomADv4_1_AC_joint_XX=59574;gnomADv4_1_AC_joint_XY=56576;gnomADv4_1_AF_grpmax_joint=0.919243;gnomADv4_1_AF_joint=0.782619;gnomADv4_1_AF_joint_XX=0.785274;gnomADv4_1_AF_joint_XY=0.779842;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=148412;gnomADv4_1_AN_joint_XX=75864;gnomADv4_1_AN_joint_XY=72548;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46031;gnomADv4_1_nhomalt_joint_XX=23739;gnomADv4_1_nhomalt_joint_XY=22292;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29941597 chr22_29941597_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=6.924;CADD_Rawscore=0.649889;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-15439T>C|||||||rs36600||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29941597T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-15439T>C|||||||rs36600||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29941597T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-15439T>C|||||||rs36600||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29941597T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-15439T>C|||||||rs36600||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29941597T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-15439T>C|||||||rs36600||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29941597T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-29379T>C|||||||rs36600||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29941597T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-15439T>C|||||||rs36600||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29941597T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-15439T>C|||||||rs36600||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29941597T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-15439T>C|||||||rs36600||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29941597T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-15439T>C|||||||rs36600||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29941597T>C|||1||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|16|46|16|-26;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118977;gnomADv4_1_AC_joint_XX=61037;gnomADv4_1_AC_joint_XY=57940;gnomADv4_1_AF_grpmax_joint=0.917444;gnomADv4_1_AF_joint=0.782795;gnomADv4_1_AF_joint_XX=0.785284;gnomADv4_1_AF_joint_XY=0.78019;gnomADv4_1_AN_grpmax_joint=5148;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74264;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=47028;gnomADv4_1_nhomalt_joint_XX=24246;gnomADv4_1_nhomalt_joint_XY=22782;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29942496 chr22_29942496_T_C T C 49 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.677;CADD_Rawscore=0.117467;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-14540T>C|||||||rs39712||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29942496T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-14540T>C|||||||rs39712||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29942496T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-14540T>C|||||||rs39712||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29942496T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-14540T>C|||||||rs39712||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29942496T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-14540T>C|||||||rs39712||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29942496T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-28480T>C|||||||rs39712||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29942496T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-14540T>C|||||||rs39712||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29942496T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-14540T>C|||||||rs39712||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29942496T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-14540T>C|||||||rs39712||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29942496T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-14540T>C|||||||rs39712||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29942496T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-25|22|1|44;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118806;gnomADv4_1_AC_joint_XX=60966;gnomADv4_1_AC_joint_XY=57840;gnomADv4_1_AF_grpmax_joint=0.91264;gnomADv4_1_AF_joint=0.781444;gnomADv4_1_AF_joint_XX=0.78429;gnomADv4_1_AF_joint_XY=0.778466;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152034;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46861;gnomADv4_1_nhomalt_joint_XX=24182;gnomADv4_1_nhomalt_joint_XY=22679;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29942602 chr22_29942602_T_C T C 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.567;CADD_Rawscore=-0.161776;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-14434T>C|||||||rs36601||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29942602T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-14434T>C|||||||rs36601||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29942602T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-14434T>C|||||||rs36601||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29942602T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-14434T>C|||||||rs36601||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29942602T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-14434T>C|||||||rs36601||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29942602T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-28374T>C|||||||rs36601||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29942602T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-14434T>C|||||||rs36601||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29942602T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-14434T>C|||||||rs36601||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29942602T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-14434T>C|||||||rs36601||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29942602T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-14434T>C|||||||rs36601||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29942602T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|49|41|41|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118975;gnomADv4_1_AC_joint_XX=61024;gnomADv4_1_AC_joint_XY=57951;gnomADv4_1_AF_grpmax_joint=0.913035;gnomADv4_1_AF_joint=0.782319;gnomADv4_1_AF_joint_XX=0.785036;gnomADv4_1_AF_joint_XY=0.779477;gnomADv4_1_AN_grpmax_joint=5186;gnomADv4_1_AN_joint=152080;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46964;gnomADv4_1_nhomalt_joint_XX=24219;gnomADv4_1_nhomalt_joint_XY=22745;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29942965 chr22_29942965_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=3.784;CADD_Rawscore=0.346039;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-14071T>C|||||||rs7289604||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29942965T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-14071T>C|||||||rs7289604||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29942965T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-14071T>C|||||||rs7289604||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29942965T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-14071T>C|||||||rs7289604||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29942965T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-14071T>C|||||||rs7289604||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29942965T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-28011T>C|||||||rs7289604||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29942965T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-14071T>C|||||||rs7289604||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29942965T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-14071T>C|||||||rs7289604||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29942965T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-14071T>C|||||||rs7289604||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29942965T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-14071T>C|||||||rs7289604||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29942965T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|14|3|-14|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53572;gnomADv4_1_AC_joint_XX=27428;gnomADv4_1_AC_joint_XY=26144;gnomADv4_1_AF_grpmax_joint=0.715698;gnomADv4_1_AF_joint=0.352345;gnomADv4_1_AF_joint_XX=0.35289;gnomADv4_1_AF_joint_XY=0.351776;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10431;gnomADv4_1_nhomalt_joint_XX=5398;gnomADv4_1_nhomalt_joint_XY=5033;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29943031 chr22_29943031_C_A C A 58 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.334;CADD_Rawscore=0.057426;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-14005C>A|||||||rs9614110||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29943031C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-14005C>A|||||||rs9614110||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29943031C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-14005C>A|||||||rs9614110||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29943031C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-14005C>A|||||||rs9614110||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29943031C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-14005C>A|||||||rs9614110||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29943031C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-27945C>A|||||||rs9614110||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29943031C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-14005C>A|||||||rs9614110||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29943031C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-14005C>A|||||||rs9614110||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29943031C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-14005C>A|||||||rs9614110||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29943031C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-14005C>A|||||||rs9614110||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29943031C>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|-46|3|-37|22;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20432;gnomADv4_1_AC_joint_XX=10293;gnomADv4_1_AC_joint_XY=10139;gnomADv4_1_AF_grpmax_joint=0.243872;gnomADv4_1_AF_joint=0.13437;gnomADv4_1_AF_joint_XX=0.132399;gnomADv4_1_AF_joint_XY=0.136431;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1550;gnomADv4_1_nhomalt_joint_XX=786;gnomADv4_1_nhomalt_joint_XY=764;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29943253 chr22_29943253_C_T C T 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.542;CADD_Rawscore=0.09529;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-13783C>T|||||||rs7285583||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29943253C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-13783C>T|||||||rs7285583||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29943253C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-13783C>T|||||||rs7285583||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29943253C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-13783C>T|||||||rs7285583||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29943253C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-13783C>T|||||||rs7285583||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29943253C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-27723C>T|||||||rs7285583||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29943253C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-13783C>T|||||||rs7285583||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29943253C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-13783C>T|||||||rs7285583||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29943253C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-13783C>T|||||||rs7285583||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29943253C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-13783C>T|||||||rs7285583||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29943253C>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|-2|-35|-2|34;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44330;gnomADv4_1_AC_joint_XX=23155;gnomADv4_1_AC_joint_XY=21175;gnomADv4_1_AF_grpmax_joint=0.606711;gnomADv4_1_AF_joint=0.292917;gnomADv4_1_AF_joint_XX=0.298967;gnomADv4_1_AF_joint_XY=0.286575;gnomADv4_1_AN_grpmax_joint=5126;gnomADv4_1_AN_joint=151340;gnomADv4_1_AN_joint_XX=77450;gnomADv4_1_AN_joint_XY=73890;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7615;gnomADv4_1_nhomalt_joint_XX=4091;gnomADv4_1_nhomalt_joint_XY=3524;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29943537 chr22_29943537_TAA_T TAA T 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.887;CADDIndel_Rawscore=-0.04875;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-13498_-458-13497del|||||||rs539885468||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||AA|AA||||chr22:g.29943538_29943539del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-13498_-137-13497del|||||||rs539885468||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||AA|AA||||chr22:g.29943538_29943539del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-13498_-137-13497del|||||||rs539885468||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||AA|AA||||chr22:g.29943538_29943539del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-13498_-137-13497del|||||||rs539885468||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||AA|AA||||chr22:g.29943538_29943539del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-13498_92-13497del|||||||rs539885468||1||HGNC|HGNC:7451|3||||||||Ensembl||AA|AA||||chr22:g.29943538_29943539del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-27438_-84-27437del|||||||rs539885468||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||AA|AA||||chr22:g.29943538_29943539del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-13498_182-13497del|||||||rs539885468||1||HGNC|HGNC:7451|4||||||||Ensembl||AA|AA||||chr22:g.29943538_29943539del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-13498_-137-13497del|||||||rs539885468||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||AA|AA||||chr22:g.29943538_29943539del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-13498_-137-13497del|||||||rs539885468||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||AA|AA||||chr22:g.29943538_29943539del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-13498_-137-13497del|||||||rs539885468||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||AA|AA||||chr22:g.29943538_29943539del|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|-4|-43|45|-43;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=473;gnomADv4_1_AC_joint_XX=268;gnomADv4_1_AC_joint_XY=205;gnomADv4_1_AF_grpmax_joint=0.00554347;gnomADv4_1_AF_joint=0.00310698;gnomADv4_1_AF_joint_XX=0.00344411;gnomADv4_1_AF_joint_XY=0.00275449;gnomADv4_1_AN_grpmax_joint=68008;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77814;gnomADv4_1_AN_joint_XY=74424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29943740 chr22_29943740_T_C T C 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=2.654;CADD_Rawscore=0.240048;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-13296T>C|||||||rs9306466||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29943740T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-13296T>C|||||||rs9306466||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29943740T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-13296T>C|||||||rs9306466||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29943740T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-13296T>C|||||||rs9306466||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29943740T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-13296T>C|||||||rs9306466||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29943740T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-27236T>C|||||||rs9306466||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29943740T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-13296T>C|||||||rs9306466||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29943740T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-13296T>C|||||||rs9306466||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29943740T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-13296T>C|||||||rs9306466||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29943740T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-13296T>C|||||||rs9306466||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29943740T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-37|-2|10|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23741;gnomADv4_1_AC_joint_XX=12200;gnomADv4_1_AC_joint_XY=11541;gnomADv4_1_AF_grpmax_joint=0.238316;gnomADv4_1_AF_joint=0.157415;gnomADv4_1_AF_joint_XX=0.157925;gnomADv4_1_AF_joint_XY=0.15688;gnomADv4_1_AN_grpmax_joint=4750;gnomADv4_1_AN_joint=150818;gnomADv4_1_AN_joint_XX=77252;gnomADv4_1_AN_joint_XY=73566;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2012;gnomADv4_1_nhomalt_joint_XX=1059;gnomADv4_1_nhomalt_joint_XY=953;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29943827 chr22_29943827_C_CTT C CTT 37 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.543;CADDIndel_Rawscore=-0.172658;CSQ=TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-13207_-458-13206dup|||||||rs35506976||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||3|chr22:g.29943829_29943830dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-13207_-137-13206dup|||||||rs35506976||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||3|chr22:g.29943829_29943830dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-13207_-137-13206dup|||||||rs35506976||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||3|chr22:g.29943829_29943830dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-13207_-137-13206dup|||||||rs35506976||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||3|chr22:g.29943829_29943830dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-13207_92-13206dup|||||||rs35506976||1||HGNC|HGNC:7451|3||||||||Ensembl||||||3|chr22:g.29943829_29943830dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-27147_-84-27146dup|||||||rs35506976||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||3|chr22:g.29943829_29943830dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-13207_182-13206dup|||||||rs35506976||1||HGNC|HGNC:7451|4||||||||Ensembl||||||3|chr22:g.29943829_29943830dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-13207_-137-13206dup|||||||rs35506976||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||3|chr22:g.29943829_29943830dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-13207_-137-13206dup|||||||rs35506976||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||3|chr22:g.29943829_29943830dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-13207_-137-13206dup|||||||rs35506976||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||3|chr22:g.29943829_29943830dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22806;gnomADv4_1_AC_joint_XX=11781;gnomADv4_1_AC_joint_XY=11025;gnomADv4_1_AF_grpmax_joint=0.454545;gnomADv4_1_AF_joint=0.323682;gnomADv4_1_AF_joint_XX=0.320153;gnomADv4_1_AF_joint_XY=0.32754;gnomADv4_1_AN_grpmax_joint=110;gnomADv4_1_AN_joint=70458;gnomADv4_1_AN_joint_XX=36798;gnomADv4_1_AN_joint_XY=33660;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1922;gnomADv4_1_nhomalt_joint_XX=1021;gnomADv4_1_nhomalt_joint_XY=901;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29944045 chr22_29944045_G_C G C 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.718;CADD_Rawscore=0.123859;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-12991G>C|||||||rs9680809||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29944045G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-12991G>C|||||||rs9680809||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29944045G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-12991G>C|||||||rs9680809||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29944045G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-12991G>C|||||||rs9680809||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29944045G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-12991G>C|||||||rs9680809||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29944045G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-26931G>C|||||||rs9680809||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29944045G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-12991G>C|||||||rs9680809||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29944045G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-12991G>C|||||||rs9680809||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29944045G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-12991G>C|||||||rs9680809||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29944045G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-12991G>C|||||||rs9680809||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29944045G>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-41|-1|9|-1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24355;gnomADv4_1_AC_joint_XX=12430;gnomADv4_1_AC_joint_XY=11925;gnomADv4_1_AF_grpmax_joint=0.24352;gnomADv4_1_AF_joint=0.160759;gnomADv4_1_AF_joint_XX=0.160404;gnomADv4_1_AF_joint_XY=0.161131;gnomADv4_1_AN_grpmax_joint=4784;gnomADv4_1_AN_joint=151500;gnomADv4_1_AN_joint_XX=77492;gnomADv4_1_AN_joint_XY=74008;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2071;gnomADv4_1_nhomalt_joint_XX=1082;gnomADv4_1_nhomalt_joint_XY=989;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29944149 chr22_29944149_C_A C A 59 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=4.119;CADD_Rawscore=0.375763;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-12887C>A|||||||rs36604||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29944149C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-12887C>A|||||||rs36604||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29944149C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-12887C>A|||||||rs36604||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29944149C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-12887C>A|||||||rs36604||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29944149C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-12887C>A|||||||rs36604||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29944149C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-26827C>A|||||||rs36604||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29944149C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-12887C>A|||||||rs36604||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29944149C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-12887C>A|||||||rs36604||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29944149C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-12887C>A|||||||rs36604||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29944149C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-12887C>A|||||||rs36604||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29944149C>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|-12|21|-10|-12;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=120775;gnomADv4_1_AC_joint_XX=62001;gnomADv4_1_AC_joint_XY=58774;gnomADv4_1_AF_grpmax_joint=0.927903;gnomADv4_1_AF_joint=0.795221;gnomADv4_1_AF_joint_XX=0.7982;gnomADv4_1_AF_joint_XY=0.792102;gnomADv4_1_AN_grpmax_joint=41458;gnomADv4_1_AN_joint=151876;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74200;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=48633;gnomADv4_1_nhomalt_joint_XX=25110;gnomADv4_1_nhomalt_joint_XY=23523;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29944367 chr22_29944367_A_T A T 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=2.312;CADD_Rawscore=0.202619;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-12669A>T|||||||rs36605||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29944367A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-12669A>T|||||||rs36605||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29944367A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-12669A>T|||||||rs36605||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29944367A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-12669A>T|||||||rs36605||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29944367A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-12669A>T|||||||rs36605||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29944367A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-26609A>T|||||||rs36605||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29944367A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-12669A>T|||||||rs36605||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29944367A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-12669A>T|||||||rs36605||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29944367A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-12669A>T|||||||rs36605||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29944367A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-12669A>T|||||||rs36605||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29944367A>T|||1||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|18|39|12|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118806;gnomADv4_1_AC_joint_XX=60972;gnomADv4_1_AC_joint_XY=57834;gnomADv4_1_AF_grpmax_joint=0.91284;gnomADv4_1_AF_joint=0.78238;gnomADv4_1_AF_joint_XX=0.785155;gnomADv4_1_AF_joint_XY=0.779476;gnomADv4_1_AN_grpmax_joint=5140;gnomADv4_1_AN_joint=151852;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=74196;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46891;gnomADv4_1_nhomalt_joint_XX=24199;gnomADv4_1_nhomalt_joint_XY=22692;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29944421 chr22_29944421_A_T A T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=2.101;CADD_Rawscore=0.177014;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-12615A>T|||||||rs36606||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29944421A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-12615A>T|||||||rs36606||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29944421A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-12615A>T|||||||rs36606||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29944421A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-12615A>T|||||||rs36606||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29944421A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-12615A>T|||||||rs36606||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29944421A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-26555A>T|||||||rs36606||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29944421A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-12615A>T|||||||rs36606||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29944421A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-12615A>T|||||||rs36606||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29944421A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-12615A>T|||||||rs36606||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29944421A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-12615A>T|||||||rs36606||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29944421A>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|24|33|-11|-42;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=121088;gnomADv4_1_AC_joint_XX=62158;gnomADv4_1_AC_joint_XY=58930;gnomADv4_1_AF_grpmax_joint=0.934386;gnomADv4_1_AF_joint=0.797261;gnomADv4_1_AF_joint_XX=0.800366;gnomADv4_1_AF_joint_XY=0.794012;gnomADv4_1_AN_grpmax_joint=41500;gnomADv4_1_AN_joint=151880;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=48903;gnomADv4_1_nhomalt_joint_XX=25256;gnomADv4_1_nhomalt_joint_XY=23647;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29945271 chr22_29945271_G_T G T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.382;CADD_Rawscore=-0.260429;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-11765G>T|||||||rs36607||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29945271G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-11765G>T|||||||rs36607||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29945271G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-11765G>T|||||||rs36607||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29945271G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-11765G>T|||||||rs36607||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29945271G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-11765G>T|||||||rs36607||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29945271G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-25705G>T|||||||rs36607||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29945271G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-11765G>T|||||||rs36607||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29945271G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-11765G>T|||||||rs36607||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29945271G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-11765G>T|||||||rs36607||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29945271G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-11765G>T|||||||rs36607||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29945271G>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|40|-36|40|13;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119002;gnomADv4_1_AC_joint_XX=61040;gnomADv4_1_AC_joint_XY=57962;gnomADv4_1_AF_grpmax_joint=0.91332;gnomADv4_1_AF_joint=0.782177;gnomADv4_1_AF_joint_XX=0.784818;gnomADv4_1_AF_joint_XY=0.779415;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152142;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46971;gnomADv4_1_nhomalt_joint_XX=24224;gnomADv4_1_nhomalt_joint_XY=22747;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29945718 chr22_29945718_G_GA G GA 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.36;CADDIndel_Rawscore=-0.275712;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-11302dup|||||||rs67054738||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||16|chr22:g.29945734dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-11302dup|||||||rs67054738||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||16|chr22:g.29945734dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-11302dup|||||||rs67054738||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||16|chr22:g.29945734dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-11302dup|||||||rs67054738||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||16|chr22:g.29945734dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-11302dup|||||||rs67054738||1||HGNC|HGNC:7451|3||||||||Ensembl||||||16|chr22:g.29945734dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-25242dup|||||||rs67054738||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||16|chr22:g.29945734dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-11302dup|||||||rs67054738||1||HGNC|HGNC:7451|4||||||||Ensembl||||||16|chr22:g.29945734dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-11302dup|||||||rs67054738||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||16|chr22:g.29945734dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-11302dup|||||||rs67054738||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||16|chr22:g.29945734dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-11302dup|||||||rs67054738||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||16|chr22:g.29945734dup|||||||||||||;SpliceAI=GA|MTMR3|0.00|0.00|0.00|0.00|-41|1|-5|-29;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52623;gnomADv4_1_AC_joint_XX=26940;gnomADv4_1_AC_joint_XY=25683;gnomADv4_1_AF_grpmax_joint=0.717637;gnomADv4_1_AF_joint=0.423375;gnomADv4_1_AF_joint_XX=0.420806;gnomADv4_1_AF_joint_XY=0.426104;gnomADv4_1_AN_grpmax_joint=4774;gnomADv4_1_AN_joint=124294;gnomADv4_1_AN_joint_XX=64020;gnomADv4_1_AN_joint_XY=60274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9875;gnomADv4_1_nhomalt_joint_XX=4978;gnomADv4_1_nhomalt_joint_XY=4897;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29946021 chr22_29946021_T_TTGTGTG;chr22_29946021_T_TTGTGTGTGTG T TTGTGTG 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.657;CADDIndel_Rawscore=-0.125018;CSQ=TGTGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-11003_-458-10998dup|||||||rs57792760||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||17|chr22:g.29946033_29946038dup|||1||||||||||,TGTGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-11003_-137-10998dup|||||||rs57792760||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||17|chr22:g.29946033_29946038dup|||1||||||||||,TGTGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-11003_-137-10998dup|||||||rs57792760||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||17|chr22:g.29946033_29946038dup|||1||||||||||,TGTGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-11003_-137-10998dup|||||||rs57792760||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||17|chr22:g.29946033_29946038dup|||1||||||||||,TGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-11003_92-10998dup|||||||rs57792760||1||HGNC|HGNC:7451|3||||||||Ensembl||||||17|chr22:g.29946033_29946038dup|||1||||||||||,TGTGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-24943_-84-24938dup|||||||rs57792760||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||17|chr22:g.29946033_29946038dup|||1||||||||||,TGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-11003_182-10998dup|||||||rs57792760||1||HGNC|HGNC:7451|4||||||||Ensembl||||||17|chr22:g.29946033_29946038dup|||1||||||||||,TGTGTG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-11003_-137-10998dup|||||||rs57792760||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||17|chr22:g.29946033_29946038dup|||1||||||||||,TGTGTG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-11003_-137-10998dup|||||||rs57792760||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||17|chr22:g.29946033_29946038dup|||1||||||||||,TGTGTG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-11003_-137-10998dup|||||||rs57792760||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||17|chr22:g.29946033_29946038dup|||1||||||||||;TYPE=INDEL;VEP_Allele=TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=67339;gnomADv4_1_AC_joint_XX=34782;gnomADv4_1_AC_joint_XY=32557;gnomADv4_1_AF_grpmax_joint=0.76036;gnomADv4_1_AF_joint=0.446705;gnomADv4_1_AF_joint_XX=0.450672;gnomADv4_1_AF_joint_XY=0.442543;gnomADv4_1_AN_grpmax_joint=5116;gnomADv4_1_AN_joint=150746;gnomADv4_1_AN_joint_XX=77178;gnomADv4_1_AN_joint_XY=73568;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15455;gnomADv4_1_nhomalt_joint_XX=8070;gnomADv4_1_nhomalt_joint_XY=7385;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chr22 29946021 chr22_29946021_T_TTGTGTG;chr22_29946021_T_TTGTGTGTGTG T TTGTGTGTGTG 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.61;CADDIndel_Rawscore=-0.143322;CSQ=TGTGTGTGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-11007_-458-10998dup|||||||rs57792760||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||17|chr22:g.29946029_29946038dup|||1||||||||||,TGTGTGTGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-11007_-137-10998dup|||||||rs57792760||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||17|chr22:g.29946029_29946038dup|||1||||||||||,TGTGTGTGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-11007_-137-10998dup|||||||rs57792760||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||17|chr22:g.29946029_29946038dup|||1||||||||||,TGTGTGTGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-11007_-137-10998dup|||||||rs57792760||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||17|chr22:g.29946029_29946038dup|||1||||||||||,TGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-11007_92-10998dup|||||||rs57792760||1||HGNC|HGNC:7451|3||||||||Ensembl||||||17|chr22:g.29946029_29946038dup|||1||||||||||,TGTGTGTGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-24947_-84-24938dup|||||||rs57792760||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||17|chr22:g.29946029_29946038dup|||1||||||||||,TGTGTGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-11007_182-10998dup|||||||rs57792760||1||HGNC|HGNC:7451|4||||||||Ensembl||||||17|chr22:g.29946029_29946038dup|||1||||||||||,TGTGTGTGTG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-11007_-137-10998dup|||||||rs57792760||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||17|chr22:g.29946029_29946038dup|||1||||||||||,TGTGTGTGTG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-11007_-137-10998dup|||||||rs57792760||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||17|chr22:g.29946029_29946038dup|||1||||||||||,TGTGTGTGTG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-11007_-137-10998dup|||||||rs57792760||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||17|chr22:g.29946029_29946038dup|||1||||||||||;TYPE=INDEL;VEP_Allele=TGTGTGTGTG,TGTGTGTGTG,TGTGTGTGTG,TGTGTGTGTG,TGTGTGTGTG,TGTGTGTGTG,TGTGTGTGTG,TGTGTGTGTG,TGTGTGTGTG,TGTGTGTGTG;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24353;gnomADv4_1_AC_joint_XX=12114;gnomADv4_1_AC_joint_XY=12239;gnomADv4_1_AF_grpmax_joint=0.274832;gnomADv4_1_AF_joint=0.161509;gnomADv4_1_AF_joint_XX=0.156909;gnomADv4_1_AF_joint_XY=0.166336;gnomADv4_1_AN_grpmax_joint=4752;gnomADv4_1_AN_joint=150784;gnomADv4_1_AN_joint_XX=77204;gnomADv4_1_AN_joint_XY=73580;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2085;gnomADv4_1_nhomalt_joint_XX=1015;gnomADv4_1_nhomalt_joint_XY=1070;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29946392 chr22_29946392_G_C G C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=2.812;CADD_Rawscore=0.256153;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-10644G>C|||||||rs9614111||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29946392G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-10644G>C|||||||rs9614111||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29946392G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-10644G>C|||||||rs9614111||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29946392G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-10644G>C|||||||rs9614111||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29946392G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-10644G>C|||||||rs9614111||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29946392G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-24584G>C|||||||rs9614111||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29946392G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-10644G>C|||||||rs9614111||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29946392G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-10644G>C|||||||rs9614111||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29946392G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-10644G>C|||||||rs9614111||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29946392G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-10644G>C|||||||rs9614111||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29946392G>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-14|-5|-2|-37;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20432;gnomADv4_1_AC_joint_XX=10300;gnomADv4_1_AC_joint_XY=10132;gnomADv4_1_AF_grpmax_joint=0.243872;gnomADv4_1_AF_joint=0.134313;gnomADv4_1_AF_joint_XX=0.132462;gnomADv4_1_AF_joint_XY=0.136249;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=74364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1556;gnomADv4_1_nhomalt_joint_XX=794;gnomADv4_1_nhomalt_joint_XY=762;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29946748 chr22_29946748_GT_G GT G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADDIndel_PHREDscore=0.802;CADDIndel_Rawscore=-0.074532;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-10276del|||||||rs11312978||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T|||11|chr22:g.29946760del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-10276del|||||||rs11312978||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T|||11|chr22:g.29946760del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-10276del|||||||rs11312978||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T|||11|chr22:g.29946760del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-10276del|||||||rs11312978||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T|||11|chr22:g.29946760del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-10276del|||||||rs11312978||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T|||11|chr22:g.29946760del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-24216del|||||||rs11312978||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T|||11|chr22:g.29946760del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-10276del|||||||rs11312978||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T|||11|chr22:g.29946760del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-10276del|||||||rs11312978||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T|||11|chr22:g.29946760del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-10276del|||||||rs11312978||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T|||11|chr22:g.29946760del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-10276del|||||||rs11312978||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T|||11|chr22:g.29946760del|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|2|17|33|18;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=115572;gnomADv4_1_AC_joint_XX=59399;gnomADv4_1_AC_joint_XY=56173;gnomADv4_1_AF_grpmax_joint=0.912226;gnomADv4_1_AF_joint=0.773864;gnomADv4_1_AF_joint_XX=0.776458;gnomADv4_1_AF_joint_XY=0.771141;gnomADv4_1_AN_grpmax_joint=5104;gnomADv4_1_AN_joint=149344;gnomADv4_1_AN_joint_XX=76500;gnomADv4_1_AN_joint_XY=72844;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=44910;gnomADv4_1_nhomalt_joint_XX=23209;gnomADv4_1_nhomalt_joint_XY=21701;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29947488 chr22_29947488_C_T C T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=10.06;CADD_Rawscore=0.976474;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-9548C>T|||||||rs960987||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29947488C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-9548C>T|||||||rs960987||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29947488C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-9548C>T|||||||rs960987||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29947488C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-9548C>T|||||||rs960987||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29947488C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-9548C>T|||||||rs960987||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29947488C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-23488C>T|||||||rs960987||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29947488C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-9548C>T|||||||rs960987||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29947488C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-9548C>T|||||||rs960987||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29947488C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-9548C>T|||||||rs960987||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29947488C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-9548C>T|||||||rs960987||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29947488C>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|47|4|-45|11;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43907;gnomADv4_1_AC_joint_XX=22963;gnomADv4_1_AC_joint_XY=20944;gnomADv4_1_AF_grpmax_joint=0.60918;gnomADv4_1_AF_joint=0.294255;gnomADv4_1_AF_joint_XX=0.300037;gnomADv4_1_AF_joint_XY=0.288167;gnomADv4_1_AN_grpmax_joint=5120;gnomADv4_1_AN_joint=149214;gnomADv4_1_AN_joint_XX=76534;gnomADv4_1_AN_joint_XY=72680;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7576;gnomADv4_1_nhomalt_joint_XX=4077;gnomADv4_1_nhomalt_joint_XY=3499;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29947502 chr22_29947502_T_TA T TA 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.387;CADDIndel_Rawscore=-0.257653;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-9522dup|||||||rs5844883||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||12|chr22:g.29947514dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-9522dup|||||||rs5844883||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||12|chr22:g.29947514dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-9522dup|||||||rs5844883||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||12|chr22:g.29947514dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-9522dup|||||||rs5844883||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||12|chr22:g.29947514dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-9522dup|||||||rs5844883||1||HGNC|HGNC:7451|3||||||||Ensembl||||||12|chr22:g.29947514dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-23462dup|||||||rs5844883||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||12|chr22:g.29947514dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-9522dup|||||||rs5844883||1||HGNC|HGNC:7451|4||||||||Ensembl||||||12|chr22:g.29947514dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-9522dup|||||||rs5844883||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||12|chr22:g.29947514dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-9522dup|||||||rs5844883||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||12|chr22:g.29947514dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-9522dup|||||||rs5844883||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||12|chr22:g.29947514dup|||||||||||||;SpliceAI=TA|MTMR3|0.00|0.00|0.00|0.00|50|-43|40|-25;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55899;gnomADv4_1_AC_joint_XX=28913;gnomADv4_1_AC_joint_XY=26986;gnomADv4_1_AF_grpmax_joint=0.713102;gnomADv4_1_AF_joint=0.385734;gnomADv4_1_AF_joint_XX=0.388052;gnomADv4_1_AF_joint_XY=0.38328;gnomADv4_1_AN_grpmax_joint=5068;gnomADv4_1_AN_joint=144916;gnomADv4_1_AN_joint_XX=74508;gnomADv4_1_AN_joint_XY=70408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11222;gnomADv4_1_nhomalt_joint_XX=5887;gnomADv4_1_nhomalt_joint_XY=5335;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29947857 chr22_29947857_T_A T A 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=9.64;CADD_Rawscore=0.938327;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-9179T>A|||||||rs737903||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29947857T>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-9179T>A|||||||rs737903||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29947857T>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-9179T>A|||||||rs737903||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29947857T>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-9179T>A|||||||rs737903||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29947857T>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-9179T>A|||||||rs737903||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29947857T>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-23119T>A|||||||rs737903||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29947857T>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-9179T>A|||||||rs737903||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29947857T>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-9179T>A|||||||rs737903||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29947857T>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-9179T>A|||||||rs737903||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29947857T>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-9179T>A|||||||rs737903||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29947857T>A|||1||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|2|-20|-4|-21;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8098;gnomADv4_1_AC_joint_XX=4377;gnomADv4_1_AC_joint_XY=3721;gnomADv4_1_AF_grpmax_joint=0.0785349;gnomADv4_1_AF_joint=0.0531972;gnomADv4_1_AF_joint_XX=0.0562524;gnomADv4_1_AF_joint_XY=0.0500027;gnomADv4_1_AN_grpmax_joint=68008;gnomADv4_1_AN_joint=152226;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=310;gnomADv4_1_nhomalt_joint_XX=170;gnomADv4_1_nhomalt_joint_XY=140;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29948468 chr22_29948468_T_G T G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.025;CADD_Rawscore=-0.994438;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-8568T>G|||||||rs36609||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29948468T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-8568T>G|||||||rs36609||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29948468T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-8568T>G|||||||rs36609||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29948468T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-8568T>G|||||||rs36609||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29948468T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-8568T>G|||||||rs36609||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29948468T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-22508T>G|||||||rs36609||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29948468T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-8568T>G|||||||rs36609||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29948468T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-8568T>G|||||||rs36609||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29948468T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-8568T>G|||||||rs36609||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29948468T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-8568T>G|||||||rs36609||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29948468T>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|30|3|-36|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=112398;gnomADv4_1_AC_joint_XX=57537;gnomADv4_1_AC_joint_XY=54861;gnomADv4_1_AF_grpmax_joint=0.912741;gnomADv4_1_AF_joint=0.739159;gnomADv4_1_AF_joint_XX=0.739988;gnomADv4_1_AF_joint_XY=0.738292;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41681;gnomADv4_1_nhomalt_joint_XX=21398;gnomADv4_1_nhomalt_joint_XY=20283;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29948799 chr22_29948799_T_TA T TA 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=3.062;CADDIndel_Rawscore=0.280349;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-8226dup|||||||rs35433786||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||11|chr22:g.29948810dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-8226dup|||||||rs35433786||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||11|chr22:g.29948810dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-8226dup|||||||rs35433786||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||11|chr22:g.29948810dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-8226dup|||||||rs35433786||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||11|chr22:g.29948810dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-8226dup|||||||rs35433786||1||HGNC|HGNC:7451|3||||||||Ensembl||||||11|chr22:g.29948810dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-22166dup|||||||rs35433786||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||11|chr22:g.29948810dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-8226dup|||||||rs35433786||1||HGNC|HGNC:7451|4||||||||Ensembl||||||11|chr22:g.29948810dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-8226dup|||||||rs35433786||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||11|chr22:g.29948810dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-8226dup|||||||rs35433786||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||11|chr22:g.29948810dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-8226dup|||||||rs35433786||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||11|chr22:g.29948810dup|||||||||||||;SpliceAI=TA|MTMR3|0.00|0.00|0.00|0.00|2|13|-12|29;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=112990;gnomADv4_1_AC_joint_XX=58440;gnomADv4_1_AC_joint_XY=54550;gnomADv4_1_AF_grpmax_joint=0.909199;gnomADv4_1_AF_joint=0.777066;gnomADv4_1_AF_joint_XX=0.780657;gnomADv4_1_AF_joint_XY=0.773254;gnomADv4_1_AN_grpmax_joint=5044;gnomADv4_1_AN_joint=145406;gnomADv4_1_AN_joint_XX=74860;gnomADv4_1_AN_joint_XY=70546;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=44008;gnomADv4_1_nhomalt_joint_XX=22930;gnomADv4_1_nhomalt_joint_XY=21078;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29949592 chr22_29949592_T_C T C 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=5.209;CADD_Rawscore=0.475579;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-7444T>C|||||||rs118142954||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29949592T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-7444T>C|||||||rs118142954||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29949592T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-7444T>C|||||||rs118142954||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29949592T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-7444T>C|||||||rs118142954||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29949592T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-7444T>C|||||||rs118142954||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29949592T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-21384T>C|||||||rs118142954||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29949592T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-7444T>C|||||||rs118142954||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29949592T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-7444T>C|||||||rs118142954||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29949592T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-7444T>C|||||||rs118142954||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29949592T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-7444T>C|||||||rs118142954||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29949592T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-26|-39|18|-7;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1550;gnomADv4_1_AC_joint_XX=851;gnomADv4_1_AC_joint_XY=699;gnomADv4_1_AF_grpmax_joint=0.0154758;gnomADv4_1_AF_joint=0.0103608;gnomADv4_1_AF_joint_XX=0.0111059;gnomADv4_1_AF_joint_XY=0.00957849;gnomADv4_1_AN_grpmax_joint=67460;gnomADv4_1_AN_joint=149602;gnomADv4_1_AN_joint_XX=76626;gnomADv4_1_AN_joint_XY=72976;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=16;gnomADv4_1_nhomalt_joint_XX=7;gnomADv4_1_nhomalt_joint_XY=9;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29950363 chr22_29950363_A_AT A AT 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.507;CADDIndel_Rawscore=-0.189914;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-6670dup|||||||rs138439307||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||3|chr22:g.29950366dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-6670dup|||||||rs138439307||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||3|chr22:g.29950366dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-6670dup|||||||rs138439307||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||3|chr22:g.29950366dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-6670dup|||||||rs138439307||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||3|chr22:g.29950366dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-6670dup|||||||rs138439307||1||HGNC|HGNC:7451|3||||||||Ensembl||||||3|chr22:g.29950366dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-20610dup|||||||rs138439307||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||3|chr22:g.29950366dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-6670dup|||||||rs138439307||1||HGNC|HGNC:7451|4||||||||Ensembl||||||3|chr22:g.29950366dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-6670dup|||||||rs138439307||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||3|chr22:g.29950366dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-6670dup|||||||rs138439307||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||3|chr22:g.29950366dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-6670dup|||||||rs138439307||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||3|chr22:g.29950366dup|||||||||||||;SpliceAI=AT|MTMR3|0.00|0.00|0.00|0.00|22|46|45|46;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43671;gnomADv4_1_AC_joint_XX=22825;gnomADv4_1_AC_joint_XY=20846;gnomADv4_1_AF_grpmax_joint=0.605995;gnomADv4_1_AF_joint=0.291961;gnomADv4_1_AF_joint_XX=0.297914;gnomADv4_1_AF_joint_XY=0.28571;gnomADv4_1_AN_grpmax_joint=5104;gnomADv4_1_AN_joint=149578;gnomADv4_1_AN_joint_XX=76616;gnomADv4_1_AN_joint_XY=72962;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7425;gnomADv4_1_nhomalt_joint_XX=4005;gnomADv4_1_nhomalt_joint_XY=3420;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29950367 chr22_29950367_A_T A T 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.4;CADD_Rawscore=0.070071;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-6669A>T|||||||rs5763630||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29950367A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-6669A>T|||||||rs5763630||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29950367A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-6669A>T|||||||rs5763630||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29950367A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-6669A>T|||||||rs5763630||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29950367A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-6669A>T|||||||rs5763630||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29950367A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-20609A>T|||||||rs5763630||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29950367A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-6669A>T|||||||rs5763630||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29950367A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-6669A>T|||||||rs5763630||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29950367A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-6669A>T|||||||rs5763630||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29950367A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-6669A>T|||||||rs5763630||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29950367A>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|18|42|42|-35;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=112211;gnomADv4_1_AC_joint_XX=57481;gnomADv4_1_AC_joint_XY=54730;gnomADv4_1_AF_grpmax_joint=0.917023;gnomADv4_1_AF_joint=0.743119;gnomADv4_1_AF_joint_XX=0.744148;gnomADv4_1_AF_joint_XY=0.742041;gnomADv4_1_AN_grpmax_joint=5146;gnomADv4_1_AN_joint=151000;gnomADv4_1_AN_joint_XX=77244;gnomADv4_1_AN_joint_XY=73756;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41796;gnomADv4_1_nhomalt_joint_XX=21492;gnomADv4_1_nhomalt_joint_XY=20304;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29951644 chr22_29951644_T_C T C 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.514;CADD_Rawscore=0.090511;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-5392T>C|||||||rs5763631||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29951644T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-5392T>C|||||||rs5763631||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29951644T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-5392T>C|||||||rs5763631||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29951644T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-5392T>C|||||||rs5763631||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29951644T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-5392T>C|||||||rs5763631||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29951644T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-19332T>C|||||||rs5763631||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29951644T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-5392T>C|||||||rs5763631||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29951644T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-5392T>C|||||||rs5763631||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29951644T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-5392T>C|||||||rs5763631||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29951644T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-5392T>C|||||||rs5763631||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29951644T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-29|13|29|13;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=148963;gnomADv4_1_AC_joint_XX=76147;gnomADv4_1_AC_joint_XY=72816;gnomADv4_1_AF_grpmax_joint=0.999228;gnomADv4_1_AF_joint=0.977794;gnomADv4_1_AF_joint_XX=0.978175;gnomADv4_1_AF_joint_XY=0.977396;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152346;gnomADv4_1_AN_joint_XX=77846;gnomADv4_1_AN_joint_XY=74500;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=72904;gnomADv4_1_nhomalt_joint_XX=37271;gnomADv4_1_nhomalt_joint_XY=35633;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29951889 chr22_29951889_G_GTT G GTT 27 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=27;CADDIndel_PHREDscore=0.388;CADDIndel_Rawscore=-0.257102;CSQ=TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-5130_-458-5129dup|||||||rs11331318||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||18|chr22:g.29951906_29951907dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-5130_-137-5129dup|||||||rs11331318||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||18|chr22:g.29951906_29951907dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-5130_-137-5129dup|||||||rs11331318||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||18|chr22:g.29951906_29951907dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-5130_-137-5129dup|||||||rs11331318||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||18|chr22:g.29951906_29951907dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-5130_92-5129dup|||||||rs11331318||1||HGNC|HGNC:7451|3||||||||Ensembl||||||18|chr22:g.29951906_29951907dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-19070_-84-19069dup|||||||rs11331318||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||18|chr22:g.29951906_29951907dup|||||||||||||,TT|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-5130_182-5129dup|||||||rs11331318||1||HGNC|HGNC:7451|4||||||||Ensembl||||||18|chr22:g.29951906_29951907dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-5130_-137-5129dup|||||||rs11331318||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||18|chr22:g.29951906_29951907dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-5130_-137-5129dup|||||||rs11331318||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||18|chr22:g.29951906_29951907dup|||||||||||||,TT|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-5130_-137-5129dup|||||||rs11331318||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||18|chr22:g.29951906_29951907dup|||||||||||||;TYPE=INDEL;VEP_Allele=TT,TT,TT,TT,TT,TT,TT,TT,TT,TT;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36601;gnomADv4_1_AC_joint_XX=20002;gnomADv4_1_AC_joint_XY=16599;gnomADv4_1_AF_grpmax_joint=0.573848;gnomADv4_1_AF_joint=0.279001;gnomADv4_1_AF_joint_XX=0.290879;gnomADv4_1_AF_joint_XY=0.265916;gnomADv4_1_AN_grpmax_joint=4252;gnomADv4_1_AN_joint=131186;gnomADv4_1_AN_joint_XX=68764;gnomADv4_1_AN_joint_XY=62422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6084;gnomADv4_1_nhomalt_joint_XX=3460;gnomADv4_1_nhomalt_joint_XY=2624;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29952409 chr22_29952409_TG_T;chr22_29952410_G_T TG T 55 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=55;CADDIndel_PHREDscore=0.017;CADDIndel_Rawscore=-1.11116;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-4626del|||||||rs57872070||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29952410del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-4626del|||||||rs57872070||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29952410del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-4626del|||||||rs57872070||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29952410del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-4626del|||||||rs57872070||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29952410del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-4626del|||||||rs57872070||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29952410del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-18566del|||||||rs57872070||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29952410del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-4626del|||||||rs57872070||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29952410del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-4626del|||||||rs57872070||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29952410del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-4626del|||||||rs57872070||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29952410del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-4626del|||||||rs57872070||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29952410del|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.01|0.00|-12|-6|-12|-8;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57737;gnomADv4_1_AC_joint_XX=29321;gnomADv4_1_AC_joint_XY=28416;gnomADv4_1_AF_grpmax_joint=0.64856;gnomADv4_1_AF_joint=0.388075;gnomADv4_1_AF_joint_XX=0.38477;gnomADv4_1_AF_joint_XY=0.391545;gnomADv4_1_AN_grpmax_joint=40630;gnomADv4_1_AN_joint=148778;gnomADv4_1_AN_joint_XX=76204;gnomADv4_1_AN_joint_XY=72574;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=13436;gnomADv4_1_nhomalt_joint_XX=6829;gnomADv4_1_nhomalt_joint_XY=6607;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29952410 chr22_29952409_TG_T;chr22_29952410_G_T G T 55 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=19;CADD_PHREDscore=0.037;CADD_Rawscore=-0.883893;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-4626G>T|||||||rs6006310||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29952410G>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-4626G>T|||||||rs6006310||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29952410G>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-4626G>T|||||||rs6006310||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29952410G>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-4626G>T|||||||rs6006310||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29952410G>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-4626G>T|||||||rs6006310||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29952410G>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-18566G>T|||||||rs6006310||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29952410G>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-4626G>T|||||||rs6006310||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29952410G>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-4626G>T|||||||rs6006310||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29952410G>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-4626G>T|||||||rs6006310||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29952410G>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-4626G>T|||||||rs6006310||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29952410G>T|||1||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|-13|-7|-9|-7;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47485;gnomADv4_1_AC_joint_XX=24680;gnomADv4_1_AC_joint_XY=22805;gnomADv4_1_AF_grpmax_joint=0.712307;gnomADv4_1_AF_joint=0.516984;gnomADv4_1_AF_joint_XX=0.519864;gnomADv4_1_AF_joint_XY=0.513904;gnomADv4_1_AN_grpmax_joint=4404;gnomADv4_1_AN_joint=91850;gnomADv4_1_AN_joint_XX=47474;gnomADv4_1_AN_joint_XY=44376;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8748;gnomADv4_1_nhomalt_joint_XX=4667;gnomADv4_1_nhomalt_joint_XY=4081;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29952663 chr22_29952663_A_T A T 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=5.009;CADD_Rawscore=0.456686;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-4373A>T|||||||rs737904||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29952663A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-4373A>T|||||||rs737904||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29952663A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-4373A>T|||||||rs737904||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29952663A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-4373A>T|||||||rs737904||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29952663A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-4373A>T|||||||rs737904||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29952663A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-18313A>T|||||||rs737904||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29952663A>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-4373A>T|||||||rs737904||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29952663A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-4373A>T|||||||rs737904||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29952663A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-4373A>T|||||||rs737904||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29952663A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-4373A>T|||||||rs737904||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29952663A>T|||1||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|41|-35|-2|36;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=120490;gnomADv4_1_AC_joint_XX=61820;gnomADv4_1_AC_joint_XY=58670;gnomADv4_1_AF_grpmax_joint=0.919884;gnomADv4_1_AF_joint=0.792645;gnomADv4_1_AF_joint_XX=0.795542;gnomADv4_1_AF_joint_XY=0.789615;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152010;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=48319;gnomADv4_1_nhomalt_joint_XX=24928;gnomADv4_1_nhomalt_joint_XY=23391;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29952683 chr22_29952683_T_TA T TA 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=3.347;CADDIndel_Rawscore=0.306856;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-4352dup|||||||rs146622237||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||1|chr22:g.29952684dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-4352dup|||||||rs146622237||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||1|chr22:g.29952684dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-4352dup|||||||rs146622237||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||1|chr22:g.29952684dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-4352dup|||||||rs146622237||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||1|chr22:g.29952684dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-4352dup|||||||rs146622237||1||HGNC|HGNC:7451|3||||||||Ensembl||||||1|chr22:g.29952684dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-18292dup|||||||rs146622237||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||1|chr22:g.29952684dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-4352dup|||||||rs146622237||1||HGNC|HGNC:7451|4||||||||Ensembl||||||1|chr22:g.29952684dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-4352dup|||||||rs146622237||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||1|chr22:g.29952684dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-4352dup|||||||rs146622237||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||1|chr22:g.29952684dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-4352dup|||||||rs146622237||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||1|chr22:g.29952684dup|||||||||||||;SpliceAI=TA|MTMR3|0.00|0.00|0.00|0.00|21|25|13|16;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20413;gnomADv4_1_AC_joint_XX=10286;gnomADv4_1_AC_joint_XY=10127;gnomADv4_1_AF_grpmax_joint=0.244287;gnomADv4_1_AF_joint=0.134199;gnomADv4_1_AF_joint_XX=0.132296;gnomADv4_1_AF_joint_XY=0.136189;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152110;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1538;gnomADv4_1_nhomalt_joint_XX=784;gnomADv4_1_nhomalt_joint_XY=754;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29953024 chr22_29953024_C_G C G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.14;CADD_Rawscore=0.016316;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-4012C>G|||||||rs12484336||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29953024C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-4012C>G|||||||rs12484336||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29953024C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-4012C>G|||||||rs12484336||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29953024C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-4012C>G|||||||rs12484336||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29953024C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-4012C>G|||||||rs12484336||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29953024C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-17952C>G|||||||rs12484336||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29953024C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-4012C>G|||||||rs12484336||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29953024C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-4012C>G|||||||rs12484336||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29953024C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-4012C>G|||||||rs12484336||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29953024C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-4012C>G|||||||rs12484336||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29953024C>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-8|46|50|-42;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24839;gnomADv4_1_AC_joint_XX=12663;gnomADv4_1_AC_joint_XY=12176;gnomADv4_1_AF_grpmax_joint=0.243958;gnomADv4_1_AF_joint=0.163346;gnomADv4_1_AF_joint_XX=0.162935;gnomADv4_1_AF_joint_XY=0.163775;gnomADv4_1_AN_grpmax_joint=4800;gnomADv4_1_AN_joint=152064;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2151;gnomADv4_1_nhomalt_joint_XX=1118;gnomADv4_1_nhomalt_joint_XY=1033;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29954059 chr22_29954059_CTTTTTTTTTT_C CTTTTTTTTTT C 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADDIndel_PHREDscore=0.783;CADDIndel_Rawscore=-0.08049;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-2962_-458-2953del|||||||rs59781649||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||TTTTTTTTTT|TTTTTTTTTT|||14|chr22:g.29954074_29954083del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-2962_-137-2953del|||||||rs59781649||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TTTTTTTTTT|TTTTTTTTTT|||14|chr22:g.29954074_29954083del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-2962_-137-2953del|||||||rs59781649||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||TTTTTTTTTT|TTTTTTTTTT|||14|chr22:g.29954074_29954083del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-2962_-137-2953del|||||||rs59781649||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||TTTTTTTTTT|TTTTTTTTTT|||14|chr22:g.29954074_29954083del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-2962_92-2953del|||||||rs59781649||1||HGNC|HGNC:7451|3||||||||Ensembl||TTTTTTTTTT|TTTTTTTTTT|||14|chr22:g.29954074_29954083del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-16902_-84-16893del|||||||rs59781649||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||TTTTTTTTTT|TTTTTTTTTT|||14|chr22:g.29954074_29954083del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-2962_182-2953del|||||||rs59781649||1||HGNC|HGNC:7451|4||||||||Ensembl||TTTTTTTTTT|TTTTTTTTTT|||14|chr22:g.29954074_29954083del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-2962_-137-2953del|||||||rs59781649||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||TTTTTTTTTT|TTTTTTTTTT|||14|chr22:g.29954074_29954083del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-2962_-137-2953del|||||||rs59781649||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||TTTTTTTTTT|TTTTTTTTTT|||14|chr22:g.29954074_29954083del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-2962_-137-2953del|||||||rs59781649||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||TTTTTTTTTT|TTTTTTTTTT|||14|chr22:g.29954074_29954083del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17667;gnomADv4_1_AC_joint_XX=9470;gnomADv4_1_AC_joint_XY=8197;gnomADv4_1_AF_grpmax_joint=0.351064;gnomADv4_1_AF_joint=0.22123;gnomADv4_1_AF_joint_XX=0.212303;gnomADv4_1_AF_joint_XY=0.232526;gnomADv4_1_AN_grpmax_joint=94;gnomADv4_1_AN_joint=79858;gnomADv4_1_AN_joint_XX=44606;gnomADv4_1_AN_joint_XY=35252;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=927;gnomADv4_1_nhomalt_joint_XX=486;gnomADv4_1_nhomalt_joint_XY=441;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29954543 chr22_29954543_T_C T C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=6.132;CADD_Rawscore=0.566611;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-2493T>C|||||||rs5763634||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29954543T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-2493T>C|||||||rs5763634||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29954543T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-2493T>C|||||||rs5763634||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29954543T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-2493T>C|||||||rs5763634||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29954543T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-2493T>C|||||||rs5763634||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29954543T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-16433T>C|||||||rs5763634||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29954543T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-2493T>C|||||||rs5763634||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29954543T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-2493T>C|||||||rs5763634||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29954543T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-2493T>C|||||||rs5763634||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29954543T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-2493T>C|||||||rs5763634||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29954543T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-31|46|-5|44;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119193;gnomADv4_1_AC_joint_XX=61104;gnomADv4_1_AC_joint_XY=58089;gnomADv4_1_AF_grpmax_joint=0.919342;gnomADv4_1_AF_joint=0.783391;gnomADv4_1_AF_joint_XX=0.785621;gnomADv4_1_AF_joint_XY=0.78106;gnomADv4_1_AN_grpmax_joint=5170;gnomADv4_1_AN_joint=152150;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=47130;gnomADv4_1_nhomalt_joint_XX=24277;gnomADv4_1_nhomalt_joint_XY=22853;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29955582 chr22_29955582_G_A G A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.392;CADD_Rawscore=0.068485;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-1454G>A|||||||rs5752986||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29955582G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-1454G>A|||||||rs5752986||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29955582G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-1454G>A|||||||rs5752986||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29955582G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-1454G>A|||||||rs5752986||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29955582G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-1454G>A|||||||rs5752986||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29955582G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-15394G>A|||||||rs5752986||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29955582G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-1454G>A|||||||rs5752986||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29955582G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-1454G>A|||||||rs5752986||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29955582G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-1454G>A|||||||rs5752986||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29955582G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-1454G>A|||||||rs5752986||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29955582G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|-7|18|-7|18;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=122036;gnomADv4_1_AC_joint_XX=62641;gnomADv4_1_AC_joint_XY=59395;gnomADv4_1_AF_grpmax_joint=0.952068;gnomADv4_1_AF_joint=0.80233;gnomADv4_1_AF_joint_XX=0.805631;gnomADv4_1_AF_joint_XY=0.798878;gnomADv4_1_AN_grpmax_joint=41538;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=49699;gnomADv4_1_nhomalt_joint_XX=25667;gnomADv4_1_nhomalt_joint_XY=24032;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29956043 chr22_29956043_C_T C T 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.152;CADD_Rawscore=0.018926;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||1/18|ENST00000323630.9:c.-458-993C>T|||||||rs5763638||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29956043C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||1/19|ENST00000333027.7:c.-137-993C>T|||||||rs5763638||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29956043C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||1/18|ENST00000351488.7:c.-137-993C>T|||||||rs5763638||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29956043C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||1/19|ENST00000401950.7:c.-137-993C>T|||||||rs5763638||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29956043C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||1/5|ENST00000415511.1:n.92-993C>T|||||||rs5763638||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29956043C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-14933C>T|||||||rs5763638||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29956043C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||1/4|ENST00000495098.5:n.182-993C>T|||||||rs5763638||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29956043C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||1/19|NM_021090.4:c.-137-993C>T|||||||rs5763638||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29956043C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||1/19|NM_153050.3:c.-137-993C>T|||||||rs5763638||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29956043C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||1/18|NM_153051.3:c.-137-993C>T|||||||rs5763638||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29956043C>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|27|-13|-2|5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53778;gnomADv4_1_AC_joint_XX=27488;gnomADv4_1_AC_joint_XY=26290;gnomADv4_1_AF_grpmax_joint=0.71686;gnomADv4_1_AF_joint=0.354194;gnomADv4_1_AF_joint_XX=0.354272;gnomADv4_1_AF_joint_XY=0.354112;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151832;gnomADv4_1_AN_joint_XX=77590;gnomADv4_1_AN_joint_XY=74242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10514;gnomADv4_1_nhomalt_joint_XX=5429;gnomADv4_1_nhomalt_joint_XY=5085;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29957260 chr22_29957260_A_AT A AT 47 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.508;CADDIndel_Rawscore=-0.189331;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+174dup|||||||rs148686689||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||2|chr22:g.29957262dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+174dup|||||||rs148686689||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||2|chr22:g.29957262dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+174dup|||||||rs148686689||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||2|chr22:g.29957262dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+174dup|||||||rs148686689||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||2|chr22:g.29957262dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+174dup|||||||rs148686689||1||HGNC|HGNC:7451|3||||||||Ensembl||||||2|chr22:g.29957262dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-13714dup|||||||rs148686689||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||2|chr22:g.29957262dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+174dup|||||||rs148686689||1||HGNC|HGNC:7451|4||||||||Ensembl||||||2|chr22:g.29957262dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+174dup|||||||rs148686689||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||2|chr22:g.29957262dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+174dup|||||||rs148686689||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||2|chr22:g.29957262dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+174dup|||||||rs148686689||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||2|chr22:g.29957262dup|||||||||||||;SpliceAI=AT|MTMR3|0.00|0.00|0.00|0.00|21|-28|32|-4;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81038;gnomADv4_1_AC_joint_XX=42123;gnomADv4_1_AC_joint_XY=38915;gnomADv4_1_AF_grpmax_joint=0.746019;gnomADv4_1_AF_joint=0.561244;gnomADv4_1_AF_joint_XX=0.566139;gnomADv4_1_AF_joint_XY=0.55604;gnomADv4_1_AN_grpmax_joint=5024;gnomADv4_1_AN_joint=144390;gnomADv4_1_AN_joint_XX=74404;gnomADv4_1_AN_joint_XY=69986;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23306;gnomADv4_1_nhomalt_joint_XX=12278;gnomADv4_1_nhomalt_joint_XY=11028;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29957263 chr22_29957263_A_T A T 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.641;CADD_Rawscore=-0.131141;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+175A>T|||||||rs5763640||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29957263A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+175A>T|||||||rs5763640||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29957263A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+175A>T|||||||rs5763640||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29957263A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+175A>T|||||||rs5763640||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29957263A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+175A>T|||||||rs5763640||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29957263A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-13713A>T|||||||rs5763640||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29957263A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+175A>T|||||||rs5763640||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29957263A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+175A>T|||||||rs5763640||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29957263A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+175A>T|||||||rs5763640||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29957263A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+175A>T|||||||rs5763640||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29957263A>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|18|-31|29|-7;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=116838;gnomADv4_1_AC_joint_XX=60287;gnomADv4_1_AC_joint_XY=56551;gnomADv4_1_AF_grpmax_joint=0.920401;gnomADv4_1_AF_joint=0.792885;gnomADv4_1_AF_joint_XX=0.796099;gnomADv4_1_AF_joint_XY=0.789488;gnomADv4_1_AN_grpmax_joint=5088;gnomADv4_1_AN_joint=147358;gnomADv4_1_AN_joint_XX=75728;gnomADv4_1_AN_joint_XY=71630;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46751;gnomADv4_1_nhomalt_joint_XX=24269;gnomADv4_1_nhomalt_joint_XY=22482;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29957415 chr22_29957415_GTATTTATT_G;chr22_29957415_GTATTTATTTATTTATTTATTTATT_G;chr22_29957415_GTATT_G GTATT G 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.576;CADDIndel_Rawscore=-0.15787;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+368_-406+371del|||||||rs59964116||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||TATT|TATT|||40|chr22:g.29957456_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+368_-85+371del|||||||rs59964116||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TATT|TATT|||40|chr22:g.29957456_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+368_-85+371del|||||||rs59964116||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||TATT|TATT|||40|chr22:g.29957456_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+368_-85+371del|||||||rs59964116||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||TATT|TATT|||40|chr22:g.29957456_29957459del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+368_144+371del|||||||rs59964116||1||HGNC|HGNC:7451|3||||||||Ensembl||TATT|TATT|||40|chr22:g.29957456_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-13520_-84-13517del|||||||rs59964116||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||TATT|TATT|||40|chr22:g.29957456_29957459del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+368_234+371del|||||||rs59964116||1||HGNC|HGNC:7451|4||||||||Ensembl||TATT|TATT|||40|chr22:g.29957456_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+368_-85+371del|||||||rs59964116||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||TATT|TATT|||40|chr22:g.29957456_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+368_-85+371del|||||||rs59964116||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||TATT|TATT|||40|chr22:g.29957456_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+368_-85+371del|||||||rs59964116||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||TATT|TATT|||40|chr22:g.29957456_29957459del|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|48|-2|-4|-1;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15821;gnomADv4_1_AC_joint_XX=8226;gnomADv4_1_AC_joint_XY=7595;gnomADv4_1_AF_grpmax_joint=0.166222;gnomADv4_1_AF_joint=0.107692;gnomADv4_1_AF_joint_XX=0.108902;gnomADv4_1_AF_joint_XY=0.106411;gnomADv4_1_AN_grpmax_joint=39688;gnomADv4_1_AN_joint=146910;gnomADv4_1_AN_joint_XX=75536;gnomADv4_1_AN_joint_XY=71374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=950;gnomADv4_1_nhomalt_joint_XX=481;gnomADv4_1_nhomalt_joint_XY=469;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29957415 chr22_29957415_GTATTTATT_G;chr22_29957415_GTATTTATTTATTTATTTATTTATT_G;chr22_29957415_GTATT_G GTATTTATT G 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.568;CADDIndel_Rawscore=-0.161182;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+364_-406+371del|||||||rs59964116||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||TATTTATT|TATTTATT|||36|chr22:g.29957452_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+364_-85+371del|||||||rs59964116||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TATTTATT|TATTTATT|||36|chr22:g.29957452_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+364_-85+371del|||||||rs59964116||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||TATTTATT|TATTTATT|||36|chr22:g.29957452_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+364_-85+371del|||||||rs59964116||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||TATTTATT|TATTTATT|||36|chr22:g.29957452_29957459del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+364_144+371del|||||||rs59964116||1||HGNC|HGNC:7451|3||||||||Ensembl||TATTTATT|TATTTATT|||36|chr22:g.29957452_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-13524_-84-13517del|||||||rs59964116||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||TATTTATT|TATTTATT|||36|chr22:g.29957452_29957459del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+364_234+371del|||||||rs59964116||1||HGNC|HGNC:7451|4||||||||Ensembl||TATTTATT|TATTTATT|||36|chr22:g.29957452_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+364_-85+371del|||||||rs59964116||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||TATTTATT|TATTTATT|||36|chr22:g.29957452_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+364_-85+371del|||||||rs59964116||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||TATTTATT|TATTTATT|||36|chr22:g.29957452_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+364_-85+371del|||||||rs59964116||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||TATTTATT|TATTTATT|||36|chr22:g.29957452_29957459del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41345;gnomADv4_1_AC_joint_XX=20681;gnomADv4_1_AC_joint_XY=20664;gnomADv4_1_AF_grpmax_joint=0.513804;gnomADv4_1_AF_joint=0.281776;gnomADv4_1_AF_joint_XX=0.274197;gnomADv4_1_AF_joint_XY=0.289793;gnomADv4_1_AN_grpmax_joint=4564;gnomADv4_1_AN_joint=146730;gnomADv4_1_AN_joint_XX=75424;gnomADv4_1_AN_joint_XY=71306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=6200;gnomADv4_1_nhomalt_joint_XX=3047;gnomADv4_1_nhomalt_joint_XY=3153;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29957415 chr22_29957415_GTATTTATT_G;chr22_29957415_GTATTTATTTATTTATTTATTTATT_G;chr22_29957415_GTATT_G GTATTTATTTATTTATTTATTTATT G 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.743;CADDIndel_Rawscore=-0.093879;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+348_-406+371del|||||||rs59964116||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||TATTTATTTATTTATTTATTTATT|TATTTATTTATTTATTTATTTATT|||20|chr22:g.29957436_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+348_-85+371del|||||||rs59964116||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TATTTATTTATTTATTTATTTATT|TATTTATTTATTTATTTATTTATT|||20|chr22:g.29957436_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+348_-85+371del|||||||rs59964116||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||TATTTATTTATTTATTTATTTATT|TATTTATTTATTTATTTATTTATT|||20|chr22:g.29957436_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+348_-85+371del|||||||rs59964116||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||TATTTATTTATTTATTTATTTATT|TATTTATTTATTTATTTATTTATT|||20|chr22:g.29957436_29957459del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+348_144+371del|||||||rs59964116||1||HGNC|HGNC:7451|3||||||||Ensembl||TATTTATTTATTTATTTATTTATT|TATTTATTTATTTATTTATTTATT|||20|chr22:g.29957436_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-13540_-84-13517del|||||||rs59964116||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||TATTTATTTATTTATTTATTTATT|TATTTATTTATTTATTTATTTATT|||20|chr22:g.29957436_29957459del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+348_234+371del|||||||rs59964116||1||HGNC|HGNC:7451|4||||||||Ensembl||TATTTATTTATTTATTTATTTATT|TATTTATTTATTTATTTATTTATT|||20|chr22:g.29957436_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+348_-85+371del|||||||rs59964116||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||TATTTATTTATTTATTTATTTATT|TATTTATTTATTTATTTATTTATT|||20|chr22:g.29957436_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+348_-85+371del|||||||rs59964116||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||TATTTATTTATTTATTTATTTATT|TATTTATTTATTTATTTATTTATT|||20|chr22:g.29957436_29957459del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+348_-85+371del|||||||rs59964116||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||TATTTATTTATTTATTTATTTATT|TATTTATTTATTTATTTATTTATT|||20|chr22:g.29957436_29957459del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44127;gnomADv4_1_AC_joint_XX=23035;gnomADv4_1_AC_joint_XY=21092;gnomADv4_1_AF_grpmax_joint=0.60932;gnomADv4_1_AF_joint=0.300122;gnomADv4_1_AF_joint_XX=0.304825;gnomADv4_1_AF_joint_XY=0.29515;gnomADv4_1_AN_grpmax_joint=5086;gnomADv4_1_AN_joint=147030;gnomADv4_1_AN_joint_XX=75568;gnomADv4_1_AN_joint_XY=71462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7749;gnomADv4_1_nhomalt_joint_XX=4151;gnomADv4_1_nhomalt_joint_XY=3598;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29958103 chr22_29958103_A_AT A AT 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=4.157;CADDIndel_Rawscore=0.379148;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+1016dup|||||||rs60355745||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||1|chr22:g.29958104dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+1016dup|||||||rs60355745||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||1|chr22:g.29958104dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+1016dup|||||||rs60355745||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||1|chr22:g.29958104dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+1016dup|||||||rs60355745||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||1|chr22:g.29958104dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+1016dup|||||||rs60355745||1||HGNC|HGNC:7451|3||||||||Ensembl||||||1|chr22:g.29958104dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-12872dup|||||||rs60355745||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||1|chr22:g.29958104dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+1016dup|||||||rs60355745||1||HGNC|HGNC:7451|4||||||||Ensembl||||||1|chr22:g.29958104dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+1016dup|||||||rs60355745||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||1|chr22:g.29958104dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+1016dup|||||||rs60355745||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||1|chr22:g.29958104dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+1016dup|||||||rs60355745||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||1|chr22:g.29958104dup|||||||||||||;SpliceAI=AT|MTMR3|0.00|0.00|0.00|0.00|-10|44|38|-23;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44301;gnomADv4_1_AC_joint_XX=23118;gnomADv4_1_AC_joint_XY=21183;gnomADv4_1_AF_grpmax_joint=0.607558;gnomADv4_1_AF_joint=0.291427;gnomADv4_1_AF_joint_XX=0.297521;gnomADv4_1_AF_joint_XY=0.285055;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74312;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7633;gnomADv4_1_nhomalt_joint_XX=4104;gnomADv4_1_nhomalt_joint_XY=3529;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29958983 chr22_29958983_G_A G A 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.152;CADD_Rawscore=0.288901;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+1895G>A|||||||rs73883345||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29958983G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+1895G>A|||||||rs73883345||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29958983G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+1895G>A|||||||rs73883345||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29958983G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+1895G>A|||||||rs73883345||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29958983G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+1895G>A|||||||rs73883345||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29958983G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-11993G>A|||||||rs73883345||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29958983G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+1895G>A|||||||rs73883345||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29958983G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+1895G>A|||||||rs73883345||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29958983G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+1895G>A|||||||rs73883345||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29958983G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+1895G>A|||||||rs73883345||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29958983G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|34|-5|-37|8;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24435;gnomADv4_1_AC_joint_XX=12464;gnomADv4_1_AC_joint_XY=11971;gnomADv4_1_AF_grpmax_joint=0.243457;gnomADv4_1_AF_joint=0.160573;gnomADv4_1_AF_joint_XX=0.160234;gnomADv4_1_AF_joint_XY=0.160926;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152174;gnomADv4_1_AN_joint_XX=77786;gnomADv4_1_AN_joint_XY=74388;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2070;gnomADv4_1_nhomalt_joint_XX=1078;gnomADv4_1_nhomalt_joint_XY=992;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29959448 chr22_29959448_A_G A G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.828;CADD_Rawscore=-0.066418;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+2360A>G|||||||rs5752988||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29959448A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+2360A>G|||||||rs5752988||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29959448A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+2360A>G|||||||rs5752988||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29959448A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+2360A>G|||||||rs5752988||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29959448A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+2360A>G|||||||rs5752988||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29959448A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-11528A>G|||||||rs5752988||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29959448A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+2360A>G|||||||rs5752988||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29959448A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+2360A>G|||||||rs5752988||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29959448A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+2360A>G|||||||rs5752988||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29959448A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+2360A>G|||||||rs5752988||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29959448A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-24|2|-44|27;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118955;gnomADv4_1_AC_joint_XX=61036;gnomADv4_1_AC_joint_XY=57919;gnomADv4_1_AF_grpmax_joint=0.91306;gnomADv4_1_AF_joint=0.78228;gnomADv4_1_AF_joint_XX=0.784908;gnomADv4_1_AF_joint_XY=0.779529;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74300;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46959;gnomADv4_1_nhomalt_joint_XX=24226;gnomADv4_1_nhomalt_joint_XY=22733;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29959504 chr22_29959504_G_A G A 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=7.239;CADD_Rawscore=0.68421;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+2416G>A|||||||rs59663694||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29959504G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+2416G>A|||||||rs59663694||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29959504G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+2416G>A|||||||rs59663694||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29959504G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+2416G>A|||||||rs59663694||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29959504G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+2416G>A|||||||rs59663694||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29959504G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-11472G>A|||||||rs59663694||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29959504G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+2416G>A|||||||rs59663694||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29959504G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+2416G>A|||||||rs59663694||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29959504G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+2416G>A|||||||rs59663694||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29959504G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+2416G>A|||||||rs59663694||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29959504G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|3|18|1|17;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44434;gnomADv4_1_AC_joint_XX=23183;gnomADv4_1_AC_joint_XY=21251;gnomADv4_1_AF_grpmax_joint=0.606755;gnomADv4_1_AF_joint=0.292568;gnomADv4_1_AF_joint_XX=0.298542;gnomADv4_1_AF_joint_XY=0.286317;gnomADv4_1_AN_grpmax_joint=5152;gnomADv4_1_AN_joint=151876;gnomADv4_1_AN_joint_XX=77654;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7639;gnomADv4_1_nhomalt_joint_XX=4102;gnomADv4_1_nhomalt_joint_XY=3537;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29959687 chr22_29959687_G_A G A 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.46;CADD_Rawscore=-0.213825;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+2599G>A|||||||rs5763644||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29959687G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+2599G>A|||||||rs5763644||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29959687G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+2599G>A|||||||rs5763644||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29959687G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+2599G>A|||||||rs5763644||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29959687G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+2599G>A|||||||rs5763644||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29959687G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-11289G>A|||||||rs5763644||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29959687G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+2599G>A|||||||rs5763644||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29959687G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+2599G>A|||||||rs5763644||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29959687G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+2599G>A|||||||rs5763644||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29959687G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+2599G>A|||||||rs5763644||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29959687G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|-4|7|-4|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=120410;gnomADv4_1_AC_joint_XX=61814;gnomADv4_1_AC_joint_XY=58596;gnomADv4_1_AF_grpmax_joint=0.919498;gnomADv4_1_AF_joint=0.792505;gnomADv4_1_AF_joint_XX=0.795322;gnomADv4_1_AF_joint_XY=0.789555;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=151936;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=48272;gnomADv4_1_nhomalt_joint_XX=24920;gnomADv4_1_nhomalt_joint_XY=23352;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29959759 chr22_29959759_AT_A AT A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.735;CADDIndel_Rawscore=-0.096737;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+2690del|||||||rs35031180||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T|||18|chr22:g.29959778del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+2690del|||||||rs35031180||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T|||18|chr22:g.29959778del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+2690del|||||||rs35031180||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T|||18|chr22:g.29959778del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+2690del|||||||rs35031180||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T|||18|chr22:g.29959778del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+2690del|||||||rs35031180||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T|||18|chr22:g.29959778del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-11198del|||||||rs35031180||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T|||18|chr22:g.29959778del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+2690del|||||||rs35031180||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T|||18|chr22:g.29959778del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+2690del|||||||rs35031180||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T|||18|chr22:g.29959778del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+2690del|||||||rs35031180||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T|||18|chr22:g.29959778del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+2690del|||||||rs35031180||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T|||18|chr22:g.29959778del|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|28|18|28|-21;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40645;gnomADv4_1_AC_joint_XX=21237;gnomADv4_1_AC_joint_XY=19408;gnomADv4_1_AF_grpmax_joint=0.650797;gnomADv4_1_AF_joint=0.303602;gnomADv4_1_AF_joint_XX=0.304718;gnomADv4_1_AF_joint_XY=0.30239;gnomADv4_1_AN_grpmax_joint=4390;gnomADv4_1_AN_joint=133876;gnomADv4_1_AN_joint_XX=69694;gnomADv4_1_AN_joint_XY=64182;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6047;gnomADv4_1_nhomalt_joint_XX=3171;gnomADv4_1_nhomalt_joint_XY=2876;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29960429 chr22_29960429_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.49;CADD_Rawscore=0.086369;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+3341G>A|||||||rs28428766||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29960429G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+3341G>A|||||||rs28428766||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29960429G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+3341G>A|||||||rs28428766||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29960429G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+3341G>A|||||||rs28428766||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29960429G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+3341G>A|||||||rs28428766||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29960429G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-10547G>A|||||||rs28428766||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29960429G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+3341G>A|||||||rs28428766||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29960429G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+3341G>A|||||||rs28428766||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29960429G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+3341G>A|||||||rs28428766||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29960429G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+3341G>A|||||||rs28428766||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29960429G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|-47|1|13|26;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24418;gnomADv4_1_AC_joint_XX=12456;gnomADv4_1_AC_joint_XY=11962;gnomADv4_1_AF_grpmax_joint=0.243254;gnomADv4_1_AF_joint=0.160488;gnomADv4_1_AF_joint_XX=0.160181;gnomADv4_1_AF_joint_XY=0.16081;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152148;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2066;gnomADv4_1_nhomalt_joint_XX=1077;gnomADv4_1_nhomalt_joint_XY=989;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29960568 chr22_29960568_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.823;CADD_Rawscore=0.139489;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+3480A>G|||||||rs28522206||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29960568A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+3480A>G|||||||rs28522206||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29960568A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+3480A>G|||||||rs28522206||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29960568A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+3480A>G|||||||rs28522206||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29960568A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+3480A>G|||||||rs28522206||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29960568A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-10408A>G|||||||rs28522206||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29960568A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+3480A>G|||||||rs28522206||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29960568A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+3480A>G|||||||rs28522206||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29960568A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+3480A>G|||||||rs28522206||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29960568A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+3480A>G|||||||rs28522206||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29960568A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-1|2|-1|-11;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24847;gnomADv4_1_AC_joint_XX=12663;gnomADv4_1_AC_joint_XY=12184;gnomADv4_1_AF_grpmax_joint=0.242626;gnomADv4_1_AF_joint=0.163233;gnomADv4_1_AF_joint_XX=0.162772;gnomADv4_1_AF_joint_XY=0.163715;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152218;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2147;gnomADv4_1_nhomalt_joint_XX=1118;gnomADv4_1_nhomalt_joint_XY=1029;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29961812 chr22_29961812_A_G A G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.495;CADD_Rawscore=-0.195899;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+4724A>G|||||||rs5763645||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29961812A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+4724A>G|||||||rs5763645||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29961812A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+4724A>G|||||||rs5763645||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29961812A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+4724A>G|||||||rs5763645||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29961812A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+4724A>G|||||||rs5763645||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29961812A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-9164A>G|||||||rs5763645||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29961812A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+4724A>G|||||||rs5763645||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29961812A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+4724A>G|||||||rs5763645||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29961812A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+4724A>G|||||||rs5763645||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29961812A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+4724A>G|||||||rs5763645||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29961812A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-48|-43|-1|-17;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53616;gnomADv4_1_AC_joint_XX=27449;gnomADv4_1_AC_joint_XY=26167;gnomADv4_1_AF_grpmax_joint=0.71608;gnomADv4_1_AF_joint=0.352635;gnomADv4_1_AF_joint_XX=0.353187;gnomADv4_1_AF_joint_XY=0.352057;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152044;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10456;gnomADv4_1_nhomalt_joint_XX=5411;gnomADv4_1_nhomalt_joint_XY=5045;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29962756 chr22_29962756_G_A G A 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.249;CADD_Rawscore=-0.370276;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+5668G>A|||||||rs73162764||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29962756G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+5668G>A|||||||rs73162764||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29962756G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+5668G>A|||||||rs73162764||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29962756G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+5668G>A|||||||rs73162764||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29962756G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+5668G>A|||||||rs73162764||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29962756G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-8220G>A|||||||rs73162764||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29962756G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+5668G>A|||||||rs73162764||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29962756G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+5668G>A|||||||rs73162764||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29962756G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+5668G>A|||||||rs73162764||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29962756G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+5668G>A|||||||rs73162764||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29962756G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|9|-20|-32|-36;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44452;gnomADv4_1_AC_joint_XX=23204;gnomADv4_1_AC_joint_XY=21248;gnomADv4_1_AF_grpmax_joint=0.608208;gnomADv4_1_AF_joint=0.29281;gnomADv4_1_AF_joint_XX=0.29879;gnomADv4_1_AF_joint_XY=0.286547;gnomADv4_1_AN_grpmax_joint=5166;gnomADv4_1_AN_joint=151812;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=74152;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7656;gnomADv4_1_nhomalt_joint_XX=4116;gnomADv4_1_nhomalt_joint_XY=3540;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29962910 chr22_29962910_C_CT C CT 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.57;CADDIndel_Rawscore=-0.160337;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+5838dup|||||||rs892383539||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||16|chr22:g.29962926dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+5838dup|||||||rs892383539||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||16|chr22:g.29962926dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+5838dup|||||||rs892383539||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||16|chr22:g.29962926dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+5838dup|||||||rs892383539||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||16|chr22:g.29962926dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+5838dup|||||||rs892383539||1||HGNC|HGNC:7451|3||||||||Ensembl||||||16|chr22:g.29962926dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-8050dup|||||||rs892383539||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||16|chr22:g.29962926dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+5838dup|||||||rs892383539||1||HGNC|HGNC:7451|4||||||||Ensembl||||||16|chr22:g.29962926dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+5838dup|||||||rs892383539||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||16|chr22:g.29962926dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+5838dup|||||||rs892383539||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||16|chr22:g.29962926dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+5838dup|||||||rs892383539||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||16|chr22:g.29962926dup|||||||||||||;SpliceAI=CT|MTMR3|0.00|0.00|0.00|0.00|24|20|24|-33;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31978;gnomADv4_1_AC_joint_XX=17010;gnomADv4_1_AC_joint_XY=14968;gnomADv4_1_AF_grpmax_joint=0.279548;gnomADv4_1_AF_joint=0.23946;gnomADv4_1_AF_joint_XX=0.244481;gnomADv4_1_AF_joint_XY=0.233999;gnomADv4_1_AN_grpmax_joint=35722;gnomADv4_1_AN_joint=133542;gnomADv4_1_AN_joint_XX=69576;gnomADv4_1_AN_joint_XY=63966;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4135;gnomADv4_1_nhomalt_joint_XX=2251;gnomADv4_1_nhomalt_joint_XY=1884;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29963421 chr22_29963421_T_C T C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.109;CADD_Rawscore=0.009059;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+6333T>C|||||||rs5763646||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29963421T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+6333T>C|||||||rs5763646||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29963421T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+6333T>C|||||||rs5763646||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29963421T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+6333T>C|||||||rs5763646||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29963421T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+6333T>C|||||||rs5763646||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29963421T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-7555T>C|||||||rs5763646||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29963421T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+6333T>C|||||||rs5763646||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29963421T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+6333T>C|||||||rs5763646||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29963421T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+6333T>C|||||||rs5763646||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29963421T>C|||1||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+6333T>C|||||||rs5763646||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29963421T>C|||1||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-8|14|-8|-10;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57228;gnomADv4_1_AC_joint_XX=29614;gnomADv4_1_AC_joint_XY=27614;gnomADv4_1_AF_grpmax_joint=0.709931;gnomADv4_1_AF_joint=0.387026;gnomADv4_1_AF_joint_XX=0.389812;gnomADv4_1_AF_joint_XY=0.384083;gnomADv4_1_AN_grpmax_joint=4954;gnomADv4_1_AN_joint=147866;gnomADv4_1_AN_joint_XX=75970;gnomADv4_1_AN_joint_XY=71896;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11632;gnomADv4_1_nhomalt_joint_XX=6077;gnomADv4_1_nhomalt_joint_XY=5555;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29963843 chr22_29963843_G_GA G GA 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.726;CADDIndel_Rawscore=-0.099818;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+6768dup|||||||rs398061878||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||13|chr22:g.29963856dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-85+6768dup|||||||rs398061878||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||13|chr22:g.29963856dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-85+6768dup|||||||rs398061878||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||13|chr22:g.29963856dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-85+6768dup|||||||rs398061878||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||13|chr22:g.29963856dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.144+6768dup|||||||rs398061878||1||HGNC|HGNC:7451|3||||||||Ensembl||||||13|chr22:g.29963856dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-7120dup|||||||rs398061878||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||13|chr22:g.29963856dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.234+6768dup|||||||rs398061878||1||HGNC|HGNC:7451|4||||||||Ensembl||||||13|chr22:g.29963856dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-85+6768dup|||||||rs398061878||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||13|chr22:g.29963856dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-85+6768dup|||||||rs398061878||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||13|chr22:g.29963856dup|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-85+6768dup|||||||rs398061878||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||13|chr22:g.29963856dup|||||||||||||;SpliceAI=GA|MTMR3|0.00|0.00|0.00|0.00|-23|48|-23|23;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53964;gnomADv4_1_AC_joint_XX=27828;gnomADv4_1_AC_joint_XY=26136;gnomADv4_1_AF_grpmax_joint=0.714399;gnomADv4_1_AF_joint=0.375637;gnomADv4_1_AF_joint_XX=0.375374;gnomADv4_1_AF_joint_XY=0.375917;gnomADv4_1_AN_grpmax_joint=5028;gnomADv4_1_AN_joint=143660;gnomADv4_1_AN_joint_XX=74134;gnomADv4_1_AN_joint_XY=69526;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10419;gnomADv4_1_nhomalt_joint_XX=5444;gnomADv4_1_nhomalt_joint_XY=4975;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29964926 chr22_29964926_G_A G A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.175;CADD_Rawscore=0.024103;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+7838G>A|||||||rs4820824||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29964926G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-6050G>A|||||||rs4820824||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29964926G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-6050G>A|||||||rs4820824||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29964926G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-6050G>A|||||||rs4820824||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29964926G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-6050G>A|||||||rs4820824||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29964926G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-6050G>A|||||||rs4820824||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29964926G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-6050G>A|||||||rs4820824||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29964926G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-6050G>A|||||||rs4820824||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29964926G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-6050G>A|||||||rs4820824||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29964926G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-6050G>A|||||||rs4820824||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29964926G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|2|-24|-26|0;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70964;gnomADv4_1_AC_joint_XX=36574;gnomADv4_1_AC_joint_XY=34390;gnomADv4_1_AF_grpmax_joint=0.71724;gnomADv4_1_AF_joint=0.467373;gnomADv4_1_AF_joint_XX=0.470744;gnomADv4_1_AF_joint_XY=0.46384;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=151836;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=74142;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16906;gnomADv4_1_nhomalt_joint_XX=8830;gnomADv4_1_nhomalt_joint_XY=8076;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29965137 chr22_29965137_A_T A T 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.872;CADD_Rawscore=0.353848;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+8049A>T|||||||rs7290085||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29965137A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-5839A>T|||||||rs7290085||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29965137A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-5839A>T|||||||rs7290085||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29965137A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-5839A>T|||||||rs7290085||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29965137A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-5839A>T|||||||rs7290085||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29965137A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-5839A>T|||||||rs7290085||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29965137A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-5839A>T|||||||rs7290085||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29965137A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-5839A>T|||||||rs7290085||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29965137A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-5839A>T|||||||rs7290085||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29965137A>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-5839A>T|||||||rs7290085||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29965137A>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|5|2|9|2;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24354;gnomADv4_1_AC_joint_XX=12445;gnomADv4_1_AC_joint_XY=11909;gnomADv4_1_AF_grpmax_joint=0.243333;gnomADv4_1_AF_joint=0.160316;gnomADv4_1_AF_joint_XX=0.16013;gnomADv4_1_AF_joint_XY=0.160512;gnomADv4_1_AN_grpmax_joint=4800;gnomADv4_1_AN_joint=151912;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74194;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2057;gnomADv4_1_nhomalt_joint_XX=1076;gnomADv4_1_nhomalt_joint_XY=981;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29965396 chr22_29965396_C_T C T 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=7.391;CADD_Rawscore=0.70089;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+8308C>T|||||||rs5763649||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29965396C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-5580C>T|||||||rs5763649||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29965396C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-5580C>T|||||||rs5763649||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29965396C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-5580C>T|||||||rs5763649||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29965396C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-5580C>T|||||||rs5763649||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29965396C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-5580C>T|||||||rs5763649||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29965396C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-5580C>T|||||||rs5763649||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29965396C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-5580C>T|||||||rs5763649||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29965396C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-5580C>T|||||||rs5763649||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29965396C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-5580C>T|||||||rs5763649||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29965396C>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|16|26|-12|25;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53565;gnomADv4_1_AC_joint_XX=27424;gnomADv4_1_AC_joint_XY=26141;gnomADv4_1_AF_grpmax_joint=0.716551;gnomADv4_1_AF_joint=0.352499;gnomADv4_1_AF_joint_XX=0.352911;gnomADv4_1_AF_joint_XY=0.352067;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=151958;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74250;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10441;gnomADv4_1_nhomalt_joint_XX=5403;gnomADv4_1_nhomalt_joint_XY=5038;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29965892 chr22_29965892_G_A G A 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=1.611;CADD_Rawscore=0.106881;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+8804G>A|||||||rs2051764||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29965892G>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-5084G>A|||||||rs2051764||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29965892G>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-5084G>A|||||||rs2051764||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29965892G>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-5084G>A|||||||rs2051764||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29965892G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-5084G>A|||||||rs2051764||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29965892G>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-5084G>A|||||||rs2051764||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29965892G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-5084G>A|||||||rs2051764||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29965892G>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-5084G>A|||||||rs2051764||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29965892G>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-5084G>A|||||||rs2051764||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29965892G>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-5084G>A|||||||rs2051764||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29965892G>A|||1||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|20|-26|-43|26;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=112258;gnomADv4_1_AC_joint_XX=57459;gnomADv4_1_AC_joint_XY=54799;gnomADv4_1_AF_grpmax_joint=0.91264;gnomADv4_1_AF_joint=0.738656;gnomADv4_1_AF_joint_XX=0.739365;gnomADv4_1_AF_joint_XY=0.737914;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=151976;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74262;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41590;gnomADv4_1_nhomalt_joint_XX=21344;gnomADv4_1_nhomalt_joint_XY=20246;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29965958 chr22_29965958_TTTAAA_T TTTAAA T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.536;CADDIndel_Rawscore=-0.175883;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+8875_-406+8879del|||||||rs142490974||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||TTAAA|TTAAA|||4|chr22:g.29965963_29965967del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-5013_-84-5009del|||||||rs142490974||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TTAAA|TTAAA|||4|chr22:g.29965963_29965967del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-5013_-84-5009del|||||||rs142490974||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||TTAAA|TTAAA|||4|chr22:g.29965963_29965967del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-5013_-84-5009del|||||||rs142490974||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||TTAAA|TTAAA|||4|chr22:g.29965963_29965967del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-5013_145-5009del|||||||rs142490974||1||HGNC|HGNC:7451|3||||||||Ensembl||TTAAA|TTAAA|||4|chr22:g.29965963_29965967del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-5013_-84-5009del|||||||rs142490974||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||TTAAA|TTAAA|||4|chr22:g.29965963_29965967del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-5013_235-5009del|||||||rs142490974||1||HGNC|HGNC:7451|4||||||||Ensembl||TTAAA|TTAAA|||4|chr22:g.29965963_29965967del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-5013_-84-5009del|||||||rs142490974||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||TTAAA|TTAAA|||4|chr22:g.29965963_29965967del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-5013_-84-5009del|||||||rs142490974||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||TTAAA|TTAAA|||4|chr22:g.29965963_29965967del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-5013_-84-5009del|||||||rs142490974||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||TTAAA|TTAAA|||4|chr22:g.29965963_29965967del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44338;gnomADv4_1_AC_joint_XX=23155;gnomADv4_1_AC_joint_XY=21183;gnomADv4_1_AF_grpmax_joint=0.604411;gnomADv4_1_AF_joint=0.291901;gnomADv4_1_AF_joint_XX=0.298074;gnomADv4_1_AF_joint_XY=0.285439;gnomADv4_1_AN_grpmax_joint=5124;gnomADv4_1_AN_joint=151894;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74212;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7603;gnomADv4_1_nhomalt_joint_XX=4091;gnomADv4_1_nhomalt_joint_XY=3512;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29966726 chr22_29966726_CGTGTGTGTGTGTGTGT_C CGTGTGTGTGTGTGTGT C 34 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=34;CADDIndel_PHREDscore=0.939;CADDIndel_Rawscore=-0.034043;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+9669_-406+9684del|||||||rs55960706||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||GTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGT|||30|chr22:g.29966757_29966772del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-4219_-84-4204del|||||||rs55960706||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||GTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGT|||30|chr22:g.29966757_29966772del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-4219_-84-4204del|||||||rs55960706||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||GTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGT|||30|chr22:g.29966757_29966772del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-4219_-84-4204del|||||||rs55960706||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||GTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGT|||30|chr22:g.29966757_29966772del|||1||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||||||||||rs55960706|4309|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||GTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGT||||chr22:g.29966757_29966772del|||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-4219_145-4204del|||||||rs55960706||1||HGNC|HGNC:7451|3||||||||Ensembl||GTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGT|||30|chr22:g.29966757_29966772del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-4219_-84-4204del|||||||rs55960706||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||GTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGT|||30|chr22:g.29966757_29966772del|||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-4219_235-4204del|||||||rs55960706||1||HGNC|HGNC:7451|4||||||||Ensembl||GTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGT|||30|chr22:g.29966757_29966772del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-4219_-84-4204del|||||||rs55960706||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||GTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGT|||30|chr22:g.29966757_29966772del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-4219_-84-4204del|||||||rs55960706||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||GTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGT|||30|chr22:g.29966757_29966772del|||1||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-4219_-84-4204del|||||||rs55960706||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||GTGTGTGTGTGTGTGT|GTGTGTGTGTGTGTGT|||30|chr22:g.29966757_29966772del|||1||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22821;gnomADv4_1_AC_joint_XX=11711;gnomADv4_1_AC_joint_XY=11110;gnomADv4_1_AF_grpmax_joint=0.216614;gnomADv4_1_AF_joint=0.159791;gnomADv4_1_AF_joint_XX=0.159694;gnomADv4_1_AF_joint_XY=0.159893;gnomADv4_1_AN_grpmax_joint=4418;gnomADv4_1_AN_joint=142818;gnomADv4_1_AN_joint_XX=73334;gnomADv4_1_AN_joint_XY=69484;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1748;gnomADv4_1_nhomalt_joint_XX=919;gnomADv4_1_nhomalt_joint_XY=829;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29967193 chr22_29967193_T_TTG;chr22_29967193_TTG_T;chr22_29967193_TTGTGTGTG_T TTG T 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=0.248;CADDIndel_Rawscore=-0.370905;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+10144_-406+10145del|||||||rs10680622||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||TG|TG|||38|chr22:g.29967232_29967233del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-3744_-84-3743del|||||||rs10680622||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TG|TG|||38|chr22:g.29967232_29967233del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-3744_-84-3743del|||||||rs10680622||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||TG|TG|||38|chr22:g.29967232_29967233del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-3744_-84-3743del|||||||rs10680622||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||TG|TG|||38|chr22:g.29967232_29967233del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||||||||||rs10680622|3856|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TG|TG||||chr22:g.29967232_29967233del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-3744_145-3743del|||||||rs10680622||1||HGNC|HGNC:7451|3||||||||Ensembl||TG|TG|||38|chr22:g.29967232_29967233del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-3744_-84-3743del|||||||rs10680622||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||TG|TG|||38|chr22:g.29967232_29967233del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-3744_235-3743del|||||||rs10680622||1||HGNC|HGNC:7451|4||||||||Ensembl||TG|TG|||38|chr22:g.29967232_29967233del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-3744_-84-3743del|||||||rs10680622||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||TG|TG|||38|chr22:g.29967232_29967233del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-3744_-84-3743del|||||||rs10680622||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||TG|TG|||38|chr22:g.29967232_29967233del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-3744_-84-3743del|||||||rs10680622||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||TG|TG|||38|chr22:g.29967232_29967233del|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|13|11|7|31;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17372;gnomADv4_1_AC_joint_XX=9001;gnomADv4_1_AC_joint_XY=8371;gnomADv4_1_AF_grpmax_joint=0.185315;gnomADv4_1_AF_joint=0.122454;gnomADv4_1_AF_joint_XX=0.123032;gnomADv4_1_AF_joint_XY=0.121838;gnomADv4_1_AN_grpmax_joint=286;gnomADv4_1_AN_joint=141866;gnomADv4_1_AN_joint_XX=73160;gnomADv4_1_AN_joint_XY=68706;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1115;gnomADv4_1_nhomalt_joint_XX=573;gnomADv4_1_nhomalt_joint_XY=542;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29967193 chr22_29967193_T_TTG;chr22_29967193_TTG_T;chr22_29967193_TTGTGTGTG_T T TTG 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADDIndel_PHREDscore=0.416;CADDIndel_Rawscore=-0.238969;CSQ=TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+10144_-406+10145dup|||||||rs10680622||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||40|chr22:g.29967232_29967233dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-3744_-84-3743dup|||||||rs10680622||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||40|chr22:g.29967232_29967233dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-3744_-84-3743dup|||||||rs10680622||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||40|chr22:g.29967232_29967233dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-3744_-84-3743dup|||||||rs10680622||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||40|chr22:g.29967232_29967233dup|||||||||||||,TG|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||||||||||rs10680622|3857|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl|||||||chr22:g.29967232_29967233dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-3744_145-3743dup|||||||rs10680622||1||HGNC|HGNC:7451|3||||||||Ensembl||||||40|chr22:g.29967232_29967233dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-3744_-84-3743dup|||||||rs10680622||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||40|chr22:g.29967232_29967233dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-3744_235-3743dup|||||||rs10680622||1||HGNC|HGNC:7451|4||||||||Ensembl||||||40|chr22:g.29967232_29967233dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-3744_-84-3743dup|||||||rs10680622||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||40|chr22:g.29967232_29967233dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-3744_-84-3743dup|||||||rs10680622||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||40|chr22:g.29967232_29967233dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-3744_-84-3743dup|||||||rs10680622||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||40|chr22:g.29967232_29967233dup|||||||||||||;TYPE=INDEL;VEP_Allele=TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17038;gnomADv4_1_AC_joint_XX=8588;gnomADv4_1_AC_joint_XY=8450;gnomADv4_1_AF_grpmax_joint=0.228873;gnomADv4_1_AF_joint=0.120199;gnomADv4_1_AF_joint_XX=0.117435;gnomADv4_1_AF_joint_XY=0.123146;gnomADv4_1_AN_grpmax_joint=284;gnomADv4_1_AN_joint=141748;gnomADv4_1_AN_joint_XX=73130;gnomADv4_1_AN_joint_XY=68618;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1034;gnomADv4_1_nhomalt_joint_XX=504;gnomADv4_1_nhomalt_joint_XY=530;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29967193 chr22_29967193_T_TTG;chr22_29967193_TTG_T;chr22_29967193_TTGTGTGTG_T TTGTGTGTG T 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=26;CADDIndel_PHREDscore=0.762;CADDIndel_Rawscore=-0.087392;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+10138_-406+10145del|||||||rs10680622||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||TGTGTGTG|TGTGTGTG|||32|chr22:g.29967226_29967233del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-3750_-84-3743del|||||||rs10680622||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TGTGTGTG|TGTGTGTG|||32|chr22:g.29967226_29967233del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-3750_-84-3743del|||||||rs10680622||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||TGTGTGTG|TGTGTGTG|||32|chr22:g.29967226_29967233del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-3750_-84-3743del|||||||rs10680622||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||TGTGTGTG|TGTGTGTG|||32|chr22:g.29967226_29967233del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||||||||||rs10680622|3850|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TGTGTGTG|TGTGTGTG||||chr22:g.29967226_29967233del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-3750_145-3743del|||||||rs10680622||1||HGNC|HGNC:7451|3||||||||Ensembl||TGTGTGTG|TGTGTGTG|||32|chr22:g.29967226_29967233del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-3750_-84-3743del|||||||rs10680622||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||TGTGTGTG|TGTGTGTG|||32|chr22:g.29967226_29967233del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-3750_235-3743del|||||||rs10680622||1||HGNC|HGNC:7451|4||||||||Ensembl||TGTGTGTG|TGTGTGTG|||32|chr22:g.29967226_29967233del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-3750_-84-3743del|||||||rs10680622||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||TGTGTGTG|TGTGTGTG|||32|chr22:g.29967226_29967233del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-3750_-84-3743del|||||||rs10680622||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||TGTGTGTG|TGTGTGTG|||32|chr22:g.29967226_29967233del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-3750_-84-3743del|||||||rs10680622||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||TGTGTGTG|TGTGTGTG|||32|chr22:g.29967226_29967233del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44213;gnomADv4_1_AC_joint_XX=23505;gnomADv4_1_AC_joint_XY=20708;gnomADv4_1_AF_grpmax_joint=0.445264;gnomADv4_1_AF_joint=0.311688;gnomADv4_1_AF_joint_XX=0.3213;gnomADv4_1_AF_joint_XY=0.301453;gnomADv4_1_AN_grpmax_joint=65588;gnomADv4_1_AN_joint=141850;gnomADv4_1_AN_joint_XX=73156;gnomADv4_1_AN_joint_XY=68694;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8381;gnomADv4_1_nhomalt_joint_XX=4567;gnomADv4_1_nhomalt_joint_XY=3814;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29967236 chr22_29967236_T_TGC T TGC 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADDIndel_PHREDscore=0.201;CADDIndel_Rawscore=-0.42581;CSQ=GC|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+10161_-406+10162dup|||||||rs140226487||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||14|chr22:g.29967249_29967250dup|||||||||||||,GC|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-3727_-84-3726dup|||||||rs140226487||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||14|chr22:g.29967249_29967250dup|||||||||||||,GC|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-3727_-84-3726dup|||||||rs140226487||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||14|chr22:g.29967249_29967250dup|||||||||||||,GC|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-3727_-84-3726dup|||||||rs140226487||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||14|chr22:g.29967249_29967250dup|||||||||||||,GC|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||||||||||rs140226487|3814|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl|||||||chr22:g.29967249_29967250dup|||||||||||||,GC|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-3727_145-3726dup|||||||rs140226487||1||HGNC|HGNC:7451|3||||||||Ensembl||||||14|chr22:g.29967249_29967250dup|||||||||||||,GC|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-3727_-84-3726dup|||||||rs140226487||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||14|chr22:g.29967249_29967250dup|||||||||||||,GC|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-3727_235-3726dup|||||||rs140226487||1||HGNC|HGNC:7451|4||||||||Ensembl||||||14|chr22:g.29967249_29967250dup|||||||||||||,GC|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-3727_-84-3726dup|||||||rs140226487||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||14|chr22:g.29967249_29967250dup|||||||||||||,GC|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-3727_-84-3726dup|||||||rs140226487||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||14|chr22:g.29967249_29967250dup|||||||||||||,GC|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-3727_-84-3726dup|||||||rs140226487||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||14|chr22:g.29967249_29967250dup|||||||||||||;TYPE=INDEL;VEP_Allele=GC,GC,GC,GC,GC,GC,GC,GC,GC,GC,GC;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=51438;gnomADv4_1_AC_joint_XX=26485;gnomADv4_1_AC_joint_XY=24953;gnomADv4_1_AF_grpmax_joint=0.715613;gnomADv4_1_AF_joint=0.368604;gnomADv4_1_AF_joint_XX=0.369222;gnomADv4_1_AF_joint_XY=0.367952;gnomADv4_1_AN_grpmax_joint=4842;gnomADv4_1_AN_joint=139548;gnomADv4_1_AN_joint_XX=71732;gnomADv4_1_AN_joint_XY=67816;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10129;gnomADv4_1_nhomalt_joint_XX=5271;gnomADv4_1_nhomalt_joint_XY=4858;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29967459 chr22_29967459_G_T G T 61 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=61;CADD_PHREDscore=0.697;CADD_Rawscore=-0.110031;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-406+10371G>T|||||||rs2412960||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29967459G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-3517G>T|||||||rs2412960||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29967459G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-3517G>T|||||||rs2412960||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29967459G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-3517G>T|||||||rs2412960||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29967459G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||||||||||rs2412960|3592|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29967459G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-3517G>T|||||||rs2412960||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29967459G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-3517G>T|||||||rs2412960||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29967459G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-3517G>T|||||||rs2412960||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29967459G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-3517G>T|||||||rs2412960||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29967459G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-3517G>T|||||||rs2412960||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29967459G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-3517G>T|||||||rs2412960||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29967459G>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|-43|-16|37|-43;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=120246;gnomADv4_1_AC_joint_XX=61821;gnomADv4_1_AC_joint_XY=58425;gnomADv4_1_AF_grpmax_joint=0.934298;gnomADv4_1_AF_joint=0.796722;gnomADv4_1_AF_joint_XX=0.799816;gnomADv4_1_AF_joint_XY=0.793473;gnomADv4_1_AN_grpmax_joint=41064;gnomADv4_1_AN_joint=150926;gnomADv4_1_AN_joint_XX=77294;gnomADv4_1_AN_joint_XY=73632;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=48535;gnomADv4_1_nhomalt_joint_XX=25102;gnomADv4_1_nhomalt_joint_XY=23433;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29967917 chr22_29967917_C_CTG;chr22_29967917_CTG_C;chr22_29967917_C_CTGTG CTG C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=0.219;CADDIndel_Rawscore=-0.403589;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-10497_-405-10496del|||||||rs57853762||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||TG|TG|||27|chr22:g.29967945_29967946del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-3031_-84-3030del|||||||rs57853762||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TG|TG|||27|chr22:g.29967945_29967946del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-3031_-84-3030del|||||||rs57853762||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||TG|TG|||27|chr22:g.29967945_29967946del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-3031_-84-3030del|||||||rs57853762||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||TG|TG|||27|chr22:g.29967945_29967946del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||||||||||rs57853762|3132|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TG|TG||||chr22:g.29967945_29967946del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-3031_145-3030del|||||||rs57853762||1||HGNC|HGNC:7451|3||||||||Ensembl||TG|TG|||27|chr22:g.29967945_29967946del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-3031_-84-3030del|||||||rs57853762||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||TG|TG|||27|chr22:g.29967945_29967946del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-3031_235-3030del|||||||rs57853762||1||HGNC|HGNC:7451|4||||||||Ensembl||TG|TG|||27|chr22:g.29967945_29967946del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-3031_-84-3030del|||||||rs57853762||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||TG|TG|||27|chr22:g.29967945_29967946del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-3031_-84-3030del|||||||rs57853762||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||TG|TG|||27|chr22:g.29967945_29967946del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-3031_-84-3030del|||||||rs57853762||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||TG|TG|||27|chr22:g.29967945_29967946del|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|5|3|-50|23;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40250;gnomADv4_1_AC_joint_XX=21416;gnomADv4_1_AC_joint_XY=18834;gnomADv4_1_AF_grpmax_joint=0.357107;gnomADv4_1_AF_joint=0.271505;gnomADv4_1_AF_joint_XX=0.281427;gnomADv4_1_AF_joint_XY=0.26104;gnomADv4_1_AN_grpmax_joint=67064;gnomADv4_1_AN_joint=148248;gnomADv4_1_AN_joint_XX=76098;gnomADv4_1_AN_joint_XY=72150;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5992;gnomADv4_1_nhomalt_joint_XX=3339;gnomADv4_1_nhomalt_joint_XY=2653;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29967917 chr22_29967917_C_CTG;chr22_29967917_CTG_C;chr22_29967917_C_CTGTG C CTG 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=0.397;CADDIndel_Rawscore=-0.251142;CSQ=TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-10497_-405-10496dup|||||||rs57853762||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||29|chr22:g.29967945_29967946dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-3031_-84-3030dup|||||||rs57853762||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||29|chr22:g.29967945_29967946dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-3031_-84-3030dup|||||||rs57853762||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||29|chr22:g.29967945_29967946dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-3031_-84-3030dup|||||||rs57853762||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||29|chr22:g.29967945_29967946dup|||||||||||||,TG|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||||||||||rs57853762|3133|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl|||||||chr22:g.29967945_29967946dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-3031_145-3030dup|||||||rs57853762||1||HGNC|HGNC:7451|3||||||||Ensembl||||||29|chr22:g.29967945_29967946dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-3031_-84-3030dup|||||||rs57853762||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||29|chr22:g.29967945_29967946dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-3031_235-3030dup|||||||rs57853762||1||HGNC|HGNC:7451|4||||||||Ensembl||||||29|chr22:g.29967945_29967946dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-3031_-84-3030dup|||||||rs57853762||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||29|chr22:g.29967945_29967946dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-3031_-84-3030dup|||||||rs57853762||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||29|chr22:g.29967945_29967946dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-3031_-84-3030dup|||||||rs57853762||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||29|chr22:g.29967945_29967946dup|||||||||||||;TYPE=INDEL;VEP_Allele=TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37490;gnomADv4_1_AC_joint_XX=19241;gnomADv4_1_AC_joint_XY=18249;gnomADv4_1_AF_grpmax_joint=0.343833;gnomADv4_1_AF_joint=0.253003;gnomADv4_1_AF_joint_XX=0.252898;gnomADv4_1_AF_joint_XY=0.253114;gnomADv4_1_AN_grpmax_joint=40130;gnomADv4_1_AN_joint=148180;gnomADv4_1_AN_joint_XX=76082;gnomADv4_1_AN_joint_XY=72098;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4828;gnomADv4_1_nhomalt_joint_XX=2514;gnomADv4_1_nhomalt_joint_XY=2314;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29967917 chr22_29967917_C_CTG;chr22_29967917_CTG_C;chr22_29967917_C_CTGTG C CTGTG 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.385;CADDIndel_Rawscore=-0.258731;CSQ=TGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-10499_-405-10496dup|||||||rs57853762||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||29|chr22:g.29967943_29967946dup|||||||||||||,TGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-3033_-84-3030dup|||||||rs57853762||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||29|chr22:g.29967943_29967946dup|||||||||||||,TGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-3033_-84-3030dup|||||||rs57853762||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||29|chr22:g.29967943_29967946dup|||||||||||||,TGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-3033_-84-3030dup|||||||rs57853762||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||29|chr22:g.29967943_29967946dup|||||||||||||,TGTG|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||||||||||rs57853762|3133|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl|||||||chr22:g.29967943_29967946dup|||||||||||||,TGTG|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-3033_145-3030dup|||||||rs57853762||1||HGNC|HGNC:7451|3||||||||Ensembl||||||29|chr22:g.29967943_29967946dup|||||||||||||,TGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-3033_-84-3030dup|||||||rs57853762||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||29|chr22:g.29967943_29967946dup|||||||||||||,TGTG|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-3033_235-3030dup|||||||rs57853762||1||HGNC|HGNC:7451|4||||||||Ensembl||||||29|chr22:g.29967943_29967946dup|||||||||||||,TGTG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-3033_-84-3030dup|||||||rs57853762||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||29|chr22:g.29967943_29967946dup|||||||||||||,TGTG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-3033_-84-3030dup|||||||rs57853762||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||29|chr22:g.29967943_29967946dup|||||||||||||,TGTG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-3033_-84-3030dup|||||||rs57853762||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||29|chr22:g.29967943_29967946dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGTG,TGTG,TGTG,TGTG,TGTG,TGTG,TGTG,TGTG,TGTG,TGTG,TGTG;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19988;gnomADv4_1_AC_joint_XX=10070;gnomADv4_1_AC_joint_XY=9918;gnomADv4_1_AF_grpmax_joint=0.250647;gnomADv4_1_AF_joint=0.134779;gnomADv4_1_AF_joint_XX=0.132288;gnomADv4_1_AF_joint_XY=0.137406;gnomADv4_1_AN_grpmax_joint=40172;gnomADv4_1_AN_joint=148302;gnomADv4_1_AN_joint_XX=76122;gnomADv4_1_AN_joint_XY=72180;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1803;gnomADv4_1_nhomalt_joint_XX=870;gnomADv4_1_nhomalt_joint_XY=933;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29968235 chr22_29968235_T_C T C 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.425;CADD_Rawscore=0.074625;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-10207T>C|||||||rs5763650||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29968235T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-2741T>C|||||||rs5763650||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29968235T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-2741T>C|||||||rs5763650||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29968235T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-2741T>C|||||||rs5763650||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29968235T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||||||||||rs5763650|2816|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29968235T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-2741T>C|||||||rs5763650||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29968235T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-2741T>C|||||||rs5763650||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29968235T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-2741T>C|||||||rs5763650||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29968235T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-2741T>C|||||||rs5763650||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29968235T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-2741T>C|||||||rs5763650||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29968235T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-2741T>C|||||||rs5763650||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29968235T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|17|-28|-30|15;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54188;gnomADv4_1_AC_joint_XX=27740;gnomADv4_1_AC_joint_XY=26448;gnomADv4_1_AF_grpmax_joint=0.715997;gnomADv4_1_AF_joint=0.356542;gnomADv4_1_AF_joint_XX=0.357033;gnomADv4_1_AF_joint_XY=0.356029;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=151982;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10569;gnomADv4_1_nhomalt_joint_XX=5467;gnomADv4_1_nhomalt_joint_XY=5102;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29968272 chr22_29968272_T_C T C 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.809;CADD_Rawscore=-0.072333;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-10170T>C|||||||rs5763651||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29968272T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-2704T>C|||||||rs5763651||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29968272T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-2704T>C|||||||rs5763651||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29968272T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-2704T>C|||||||rs5763651||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29968272T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||||||||||rs5763651|2779|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29968272T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-2704T>C|||||||rs5763651||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29968272T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-2704T>C|||||||rs5763651||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29968272T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-2704T>C|||||||rs5763651||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29968272T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-2704T>C|||||||rs5763651||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29968272T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-2704T>C|||||||rs5763651||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29968272T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-2704T>C|||||||rs5763651||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29968272T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-32|18|-5|-22;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53511;gnomADv4_1_AC_joint_XX=27405;gnomADv4_1_AC_joint_XY=26106;gnomADv4_1_AF_grpmax_joint=0.715143;gnomADv4_1_AF_joint=0.351893;gnomADv4_1_AF_joint_XX=0.352603;gnomADv4_1_AF_joint_XY=0.351151;gnomADv4_1_AN_grpmax_joint=5164;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10416;gnomADv4_1_nhomalt_joint_XX=5393;gnomADv4_1_nhomalt_joint_XY=5023;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29969195 chr22_29969195_C_T C T 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.588;CADD_Rawscore=-0.152828;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-9247C>T|||||||rs73162773||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29969195C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-1781C>T|||||||rs73162773||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29969195C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-1781C>T|||||||rs73162773||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29969195C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-1781C>T|||||||rs73162773||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29969195C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||||||||||rs73162773|1856|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29969195C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-1781C>T|||||||rs73162773||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29969195C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-1781C>T|||||||rs73162773||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29969195C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-1781C>T|||||||rs73162773||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29969195C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-1781C>T|||||||rs73162773||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29969195C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-1781C>T|||||||rs73162773||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29969195C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-1781C>T|||||||rs73162773||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29969195C>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|7|19|7|-4;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24840;gnomADv4_1_AC_joint_XX=12666;gnomADv4_1_AC_joint_XY=12174;gnomADv4_1_AF_grpmax_joint=0.242116;gnomADv4_1_AF_joint=0.163247;gnomADv4_1_AF_joint_XX=0.162882;gnomADv4_1_AF_joint_XY=0.163629;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2150;gnomADv4_1_nhomalt_joint_XX=1116;gnomADv4_1_nhomalt_joint_XY=1034;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29969791 chr22_29969791_G_A G A 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.461;CADD_Rawscore=-0.213212;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-8651G>A|||||||rs5752989||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29969791G>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-1185G>A|||||||rs5752989||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29969791G>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-1185G>A|||||||rs5752989||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29969791G>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-1185G>A|||||||rs5752989||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29969791G>A|||1||||||||||,A|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||||||||||rs5752989|1260|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29969791G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-1185G>A|||||||rs5752989||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29969791G>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-1185G>A|||||||rs5752989||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29969791G>A|||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-1185G>A|||||||rs5752989||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29969791G>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-1185G>A|||||||rs5752989||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29969791G>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-1185G>A|||||||rs5752989||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29969791G>A|||1||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-1185G>A|||||||rs5752989||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29969791G>A|||1||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|17|-48|17|18;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=83564;gnomADv4_1_AC_joint_XX=42858;gnomADv4_1_AC_joint_XY=40706;gnomADv4_1_AF_grpmax_joint=0.834878;gnomADv4_1_AF_joint=0.549944;gnomADv4_1_AF_joint_XX=0.55164;gnomADv4_1_AF_joint_XY=0.54817;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=151950;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=74258;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23339;gnomADv4_1_nhomalt_joint_XX=11999;gnomADv4_1_nhomalt_joint_XY=11340;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29969853 chr22_29969853_A_G A G 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=2.008;CADD_Rawscore=0.164966;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-8589A>G|||||||rs9614122||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29969853A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-1123A>G|||||||rs9614122||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29969853A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-1123A>G|||||||rs9614122||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29969853A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-1123A>G|||||||rs9614122||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29969853A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||||||||||rs9614122|1198|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29969853A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-1123A>G|||||||rs9614122||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29969853A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-1123A>G|||||||rs9614122||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29969853A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-1123A>G|||||||rs9614122||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29969853A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-1123A>G|||||||rs9614122||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29969853A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-1123A>G|||||||rs9614122||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29969853A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-1123A>G|||||||rs9614122||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29969853A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-1|-8|-5|-8;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29374;gnomADv4_1_AC_joint_XX=15120;gnomADv4_1_AC_joint_XY=14254;gnomADv4_1_AF_grpmax_joint=0.288273;gnomADv4_1_AF_joint=0.193131;gnomADv4_1_AF_joint_XX=0.194499;gnomADv4_1_AF_joint_XY=0.191699;gnomADv4_1_AN_grpmax_joint=41478;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3193;gnomADv4_1_nhomalt_joint_XX=1688;gnomADv4_1_nhomalt_joint_XY=1505;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29970935 chr22_29970935_C_CT C CT 48 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.048;CADDIndel_Rawscore=-0.813569;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-7497dup|||||||rs34749290||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||10|chr22:g.29970945dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||2/19|ENST00000333027.7:c.-84-31dup|||||||rs34749290||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||10|chr22:g.29970945dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||2/18|ENST00000351488.7:c.-84-31dup|||||||rs34749290||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||10|chr22:g.29970945dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||2/19|ENST00000401950.7:c.-84-31dup|||||||rs34749290||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||10|chr22:g.29970945dup|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||||||||||rs34749290|115|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl|||||||chr22:g.29970945dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||2/5|ENST00000415511.1:n.145-31dup|||||||rs34749290||1||HGNC|HGNC:7451|3||||||||Ensembl||||||10|chr22:g.29970945dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||1/5|ENST00000445401.5:c.-84-31dup|||||||rs34749290||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||10|chr22:g.29970945dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||2/4|ENST00000495098.5:n.235-31dup|||||||rs34749290||1||HGNC|HGNC:7451|4||||||||Ensembl||||||10|chr22:g.29970945dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||2/19|NM_021090.4:c.-84-31dup|||||||rs34749290||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||10|chr22:g.29970945dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||2/19|NM_153050.3:c.-84-31dup|||||||rs34749290||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||10|chr22:g.29970945dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||2/18|NM_153051.3:c.-84-31dup|||||||rs34749290||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||10|chr22:g.29970945dup|||||||||||||;SpliceAI=CT|MTMR3|0.00|0.00|0.00|0.00|41|11|31|41;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=180496;gnomADv4_1_AC_joint_XX=88197;gnomADv4_1_AC_joint_XY=92299;gnomADv4_1_AF_grpmax_joint=0.739494;gnomADv4_1_AF_joint=0.407792;gnomADv4_1_AF_joint_XX=0.408149;gnomADv4_1_AF_joint_XY=0.407451;gnomADv4_1_AN_grpmax_joint=43546;gnomADv4_1_AN_joint=442618;gnomADv4_1_AN_joint_XX=216090;gnomADv4_1_AN_joint_XY=226528;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=52469;gnomADv4_1_nhomalt_joint_XX=26109;gnomADv4_1_nhomalt_joint_XY=26360;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29971025 chr22_29971025_A_T A T 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=12.13;CADD_Rawscore=1.19134;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-7417A>T|||||||rs16988135||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29971025A>T|||||||||||||,T|5_prime_UTR_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding|3/20||ENST00000333027.7:c.-35A>T||294|||||rs16988135||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29971025A>T|||||||||0|0|2||,T|5_prime_UTR_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding|3/19||ENST00000351488.7:c.-35A>T||250|||||rs16988135||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29971025A>T|||||||||0|0|1||,T|5_prime_UTR_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding|3/20||ENST00000401950.7:c.-35A>T||289|||||rs16988135||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29971025A>T|||||||||0|0|2||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||||||||||rs16988135|26|1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29971025A>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined|3/6||ENST00000415511.1:n.194A>T||194|||||rs16988135||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29971025A>T|||||||||||||,T|5_prime_UTR_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding|2/6||ENST00000445401.5:c.-35A>T||213|||||rs16988135||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29971025A>T|||||||||0|0|1||,T|non_coding_transcript_exon_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined|3/5||ENST00000495098.5:n.284A>T||284|||||rs16988135||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29971025A>T|||||||||||||,T|5_prime_UTR_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding|3/20||NM_021090.4:c.-35A>T||289|||||rs16988135||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29971025A>T|||||||||0|0|2||,T|5_prime_UTR_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding|3/20||NM_153050.3:c.-35A>T||289|||||rs16988135||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29971025A>T|||||||||0|0|2||,T|5_prime_UTR_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding|3/19||NM_153051.3:c.-35A>T||289|||||rs16988135||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29971025A>T|||||||||0|0|2||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.03|-2|-49|-2|37;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,0,0,0,.,.,0,.,0,0,0;VEP_existing_OutOfFrame_oORFs=.,0,0,0,.,.,0,.,0,0,0;VEP_existing_uORFs=.,2,1,2,.,.,1,.,2,2,2;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=247694;gnomADv4_1_AC_joint_XX=123073;gnomADv4_1_AC_joint_XY=124621;gnomADv4_1_AF_grpmax_joint=0.233036;gnomADv4_1_AF_joint=0.165192;gnomADv4_1_AF_joint_XX=0.162942;gnomADv4_1_AF_joint_XY=0.167476;gnomADv4_1_AN_grpmax_joint=85446;gnomADv4_1_AN_joint=1499430;gnomADv4_1_AN_joint_XX=755316;gnomADv4_1_AN_joint_XY=744114;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=20781;gnomADv4_1_nhomalt_joint_XX=10127;gnomADv4_1_nhomalt_joint_XY=10654;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29972395 chr22_29972395_T_G T G 54 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.01;CADD_Rawscore=-1.2705;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-6047T>G|||||||rs4239932||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29972395T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||3/19|ENST00000333027.7:c.3+1333T>G|||||||rs4239932||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29972395T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||3/18|ENST00000351488.7:c.3+1333T>G|||||||rs4239932||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29972395T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||3/19|ENST00000401950.7:c.3+1333T>G|||||||rs4239932||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29972395T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||1/17|ENST00000406629.1:c.3+1333T>G|||||||rs4239932||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29972395T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||3/5|ENST00000415511.1:n.231+1333T>G|||||||rs4239932||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29972395T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||2/5|ENST00000445401.5:c.3+1333T>G|||||||rs4239932||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29972395T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||3/4|ENST00000495098.5:n.321+1333T>G|||||||rs4239932||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29972395T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||3/19|NM_021090.4:c.3+1333T>G|||||||rs4239932||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29972395T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||3/19|NM_153050.3:c.3+1333T>G|||||||rs4239932||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29972395T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||3/18|NM_153051.3:c.3+1333T>G|||||||rs4239932||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29972395T>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-20|21|42|-29;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119179;gnomADv4_1_AC_joint_XX=61108;gnomADv4_1_AC_joint_XY=58071;gnomADv4_1_AF_grpmax_joint=0.919274;gnomADv4_1_AF_joint=0.783557;gnomADv4_1_AF_joint_XX=0.785834;gnomADv4_1_AF_joint_XY=0.781175;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152100;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=47111;gnomADv4_1_nhomalt_joint_XX=24269;gnomADv4_1_nhomalt_joint_XY=22842;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29973787 chr22_29973787_C_T C T 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.078;CADD_Rawscore=-0.679177;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-4655C>T|||||||rs3747149||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29973787C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||3/19|ENST00000333027.7:c.3+2725C>T|||||||rs3747149||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29973787C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||3/18|ENST00000351488.7:c.3+2725C>T|||||||rs3747149||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29973787C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||3/19|ENST00000401950.7:c.3+2725C>T|||||||rs3747149||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29973787C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||1/17|ENST00000406629.1:c.3+2725C>T|||||||rs3747149||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29973787C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||3/5|ENST00000415511.1:n.231+2725C>T|||||||rs3747149||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29973787C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||2/5|ENST00000445401.5:c.3+2725C>T|||||||rs3747149||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29973787C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||||||||||rs3747149|4300|1||HGNC|HGNC:7451|2||||||||Ensembl||C|C||||chr22:g.29973787C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||3/4|ENST00000495098.5:n.321+2725C>T|||||||rs3747149||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29973787C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||3/19|NM_021090.4:c.3+2725C>T|||||||rs3747149||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29973787C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||3/19|NM_153050.3:c.3+2725C>T|||||||rs3747149||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29973787C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||3/18|NM_153051.3:c.3+2725C>T|||||||rs3747149||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29973787C>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|22|-6|-45|47;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53464;gnomADv4_1_AC_joint_XX=27369;gnomADv4_1_AC_joint_XY=26095;gnomADv4_1_AF_grpmax_joint=0.714951;gnomADv4_1_AF_joint=0.351941;gnomADv4_1_AF_joint_XX=0.35243;gnomADv4_1_AF_joint_XY=0.351429;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151912;gnomADv4_1_AN_joint_XX=77658;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10398;gnomADv4_1_nhomalt_joint_XX=5382;gnomADv4_1_nhomalt_joint_XY=5016;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29973819 chr22_29973819_G_A G A 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.166;CADD_Rawscore=-0.476026;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-4623G>A|||||||rs3747150||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29973819G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||3/19|ENST00000333027.7:c.3+2757G>A|||||||rs3747150||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29973819G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||3/18|ENST00000351488.7:c.3+2757G>A|||||||rs3747150||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29973819G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||3/19|ENST00000401950.7:c.3+2757G>A|||||||rs3747150||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29973819G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||1/17|ENST00000406629.1:c.3+2757G>A|||||||rs3747150||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29973819G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||3/5|ENST00000415511.1:n.231+2757G>A|||||||rs3747150||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29973819G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||2/5|ENST00000445401.5:c.3+2757G>A|||||||rs3747150||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29973819G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||||||||||rs3747150|4268|1||HGNC|HGNC:7451|2||||||||Ensembl||G|G||||chr22:g.29973819G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||3/4|ENST00000495098.5:n.321+2757G>A|||||||rs3747150||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29973819G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||3/19|NM_021090.4:c.3+2757G>A|||||||rs3747150||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29973819G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||3/19|NM_153050.3:c.3+2757G>A|||||||rs3747150||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29973819G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||3/18|NM_153051.3:c.3+2757G>A|||||||rs3747150||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29973819G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|16|-38|-15|15;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53515;gnomADv4_1_AC_joint_XX=27410;gnomADv4_1_AC_joint_XY=26105;gnomADv4_1_AF_grpmax_joint=0.714951;gnomADv4_1_AF_joint=0.352355;gnomADv4_1_AF_joint_XX=0.352994;gnomADv4_1_AF_joint_XY=0.351687;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=151878;gnomADv4_1_AN_joint_XX=77650;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10410;gnomADv4_1_nhomalt_joint_XX=5394;gnomADv4_1_nhomalt_joint_XY=5016;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29975361 chr22_29975361_A_G A G 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=5.37;CADD_Rawscore=0.490954;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-3081A>G|||||||rs9614123||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29975361A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||3/19|ENST00000333027.7:c.4-3081A>G|||||||rs9614123||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29975361A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||3/18|ENST00000351488.7:c.4-3081A>G|||||||rs9614123||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29975361A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||3/19|ENST00000401950.7:c.4-3081A>G|||||||rs9614123||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29975361A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||1/17|ENST00000406629.1:c.4-3081A>G|||||||rs9614123||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29975361A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||3/5|ENST00000415511.1:n.232-3081A>G|||||||rs9614123||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29975361A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||2/5|ENST00000445401.5:c.4-3081A>G|||||||rs9614123||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29975361A>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||||||||||rs9614123|2726|1||HGNC|HGNC:7451|2||||||||Ensembl||A|A||||chr22:g.29975361A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||3/4|ENST00000495098.5:n.322-3064A>G|||||||rs9614123||1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29975361A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||3/19|NM_021090.4:c.4-3081A>G|||||||rs9614123||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29975361A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||3/19|NM_153050.3:c.4-3081A>G|||||||rs9614123||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29975361A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||3/18|NM_153051.3:c.4-3081A>G|||||||rs9614123||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29975361A>G|||1||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|0|16|-1|-45;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40791;gnomADv4_1_AC_joint_XX=20652;gnomADv4_1_AC_joint_XY=20139;gnomADv4_1_AF_grpmax_joint=0.367854;gnomADv4_1_AF_joint=0.268231;gnomADv4_1_AF_joint_XX=0.265648;gnomADv4_1_AF_joint_XY=0.270933;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5590;gnomADv4_1_nhomalt_joint_XX=2834;gnomADv4_1_nhomalt_joint_XY=2756;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29975662 chr22_29975662_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.077;CADD_Rawscore=-0.682167;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-2780G>A|||||||rs9614124||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29975662G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||3/19|ENST00000333027.7:c.4-2780G>A|||||||rs9614124||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29975662G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||3/18|ENST00000351488.7:c.4-2780G>A|||||||rs9614124||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29975662G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||3/19|ENST00000401950.7:c.4-2780G>A|||||||rs9614124||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29975662G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||1/17|ENST00000406629.1:c.4-2780G>A|||||||rs9614124||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29975662G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||3/5|ENST00000415511.1:n.232-2780G>A|||||||rs9614124||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29975662G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||2/5|ENST00000445401.5:c.4-2780G>A|||||||rs9614124||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29975662G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||||||||||rs9614124|2425|1||HGNC|HGNC:7451|2||||||||Ensembl||G|G||||chr22:g.29975662G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||3/4|ENST00000495098.5:n.322-2763G>A|||||||rs9614124||1||HGNC|HGNC:7451|4||||||||Ensembl||G|G||||chr22:g.29975662G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||3/19|NM_021090.4:c.4-2780G>A|||||||rs9614124||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29975662G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||3/19|NM_153050.3:c.4-2780G>A|||||||rs9614124||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29975662G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||3/18|NM_153051.3:c.4-2780G>A|||||||rs9614124||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29975662G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|2|-35|-36|44;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24522;gnomADv4_1_AC_joint_XX=12516;gnomADv4_1_AC_joint_XY=12006;gnomADv4_1_AF_grpmax_joint=0.243254;gnomADv4_1_AF_joint=0.1612;gnomADv4_1_AF_joint_XX=0.160953;gnomADv4_1_AF_joint_XY=0.161458;gnomADv4_1_AN_grpmax_joint=4818;gnomADv4_1_AN_joint=152122;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2078;gnomADv4_1_nhomalt_joint_XX=1086;gnomADv4_1_nhomalt_joint_XY=992;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29976120 chr22_29976120_GT_G GT G 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.398;CADDIndel_Rawscore=-0.250108;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-2306del|||||||rs34984702||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T|||15|chr22:g.29976136del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||3/19|ENST00000333027.7:c.4-2306del|||||||rs34984702||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T|||15|chr22:g.29976136del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||3/18|ENST00000351488.7:c.4-2306del|||||||rs34984702||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T|||15|chr22:g.29976136del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||3/19|ENST00000401950.7:c.4-2306del|||||||rs34984702||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T|||15|chr22:g.29976136del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||1/17|ENST00000406629.1:c.4-2306del|||||||rs34984702||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T|||15|chr22:g.29976136del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||3/5|ENST00000415511.1:n.232-2306del|||||||rs34984702||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T|||15|chr22:g.29976136del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||2/5|ENST00000445401.5:c.4-2306del|||||||rs34984702||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T|||15|chr22:g.29976136del|||||||||||||,-|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||||||||||rs34984702|1966|1||HGNC|HGNC:7451|2||||||||Ensembl||T|T||||chr22:g.29976136del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||3/4|ENST00000495098.5:n.322-2289del|||||||rs34984702||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T|||15|chr22:g.29976136del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||3/19|NM_021090.4:c.4-2306del|||||||rs34984702||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T|||15|chr22:g.29976136del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||3/19|NM_153050.3:c.4-2306del|||||||rs34984702||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T|||15|chr22:g.29976136del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||3/18|NM_153051.3:c.4-2306del|||||||rs34984702||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T|||15|chr22:g.29976136del|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|42|-5|-7|-5;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71162;gnomADv4_1_AC_joint_XX=37245;gnomADv4_1_AC_joint_XY=33917;gnomADv4_1_AF_grpmax_joint=0.721061;gnomADv4_1_AF_joint=0.501812;gnomADv4_1_AF_joint_XX=0.508631;gnomADv4_1_AF_joint_XY=0.494532;gnomADv4_1_AN_grpmax_joint=4976;gnomADv4_1_AN_joint=141810;gnomADv4_1_AN_joint_XX=73226;gnomADv4_1_AN_joint_XY=68584;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17486;gnomADv4_1_nhomalt_joint_XX=9360;gnomADv4_1_nhomalt_joint_XY=8126;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29977438 chr22_29977438_C_G C G 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=2.944;CADD_Rawscore=0.269075;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-1004C>G|||||||rs9608828||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29977438C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||3/19|ENST00000333027.7:c.4-1004C>G|||||||rs9608828||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29977438C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||3/18|ENST00000351488.7:c.4-1004C>G|||||||rs9608828||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29977438C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||3/19|ENST00000401950.7:c.4-1004C>G|||||||rs9608828||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29977438C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||1/17|ENST00000406629.1:c.4-1004C>G|||||||rs9608828||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29977438C>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||3/5|ENST00000415511.1:n.232-1004C>G|||||||rs9608828||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29977438C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||2/5|ENST00000445401.5:c.4-1004C>G|||||||rs9608828||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29977438C>G|||1||||||||||,G|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||||||||||rs9608828|649|1||HGNC|HGNC:7451|2||||||||Ensembl||C|C||||chr22:g.29977438C>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||3/4|ENST00000495098.5:n.322-987C>G|||||||rs9608828||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29977438C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||3/19|NM_021090.4:c.4-1004C>G|||||||rs9608828||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29977438C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||3/19|NM_153050.3:c.4-1004C>G|||||||rs9608828||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29977438C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||3/18|NM_153051.3:c.4-1004C>G|||||||rs9608828||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29977438C>G|||1||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-49|4|-1|34;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7403;gnomADv4_1_AC_joint_XX=3576;gnomADv4_1_AC_joint_XY=3827;gnomADv4_1_AF_grpmax_joint=0.0869565;gnomADv4_1_AF_joint=0.0486233;gnomADv4_1_AF_joint_XX=0.0459546;gnomADv4_1_AF_joint_XY=0.0514133;gnomADv4_1_AN_grpmax_joint=4830;gnomADv4_1_AN_joint=152252;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=74436;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=261;gnomADv4_1_nhomalt_joint_XX=124;gnomADv4_1_nhomalt_joint_XY=137;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29977975 chr22_29977975_C_T C T 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.401;CADD_Rawscore=-0.24835;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-467C>T|||||||rs112915444||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29977975C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||3/19|ENST00000333027.7:c.4-467C>T|||||||rs112915444||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29977975C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||3/18|ENST00000351488.7:c.4-467C>T|||||||rs112915444||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29977975C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||3/19|ENST00000401950.7:c.4-467C>T|||||||rs112915444||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29977975C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||1/17|ENST00000406629.1:c.4-467C>T|||||||rs112915444||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29977975C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||3/5|ENST00000415511.1:n.232-467C>T|||||||rs112915444||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29977975C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||2/5|ENST00000445401.5:c.4-467C>T|||||||rs112915444||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29977975C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||||||||||rs112915444|112|1||HGNC|HGNC:7451|2||||||||Ensembl||C|C||||chr22:g.29977975C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||3/4|ENST00000495098.5:n.322-450C>T|||||||rs112915444||1||HGNC|HGNC:7451|4||||||||Ensembl||C|C||||chr22:g.29977975C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||3/19|NM_021090.4:c.4-467C>T|||||||rs112915444||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29977975C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||3/19|NM_153050.3:c.4-467C>T|||||||rs112915444||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29977975C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||3/18|NM_153051.3:c.4-467C>T|||||||rs112915444||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29977975C>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|17|36|0|15;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7493;gnomADv4_1_AC_joint_XX=3622;gnomADv4_1_AC_joint_XY=3871;gnomADv4_1_AF_grpmax_joint=0.0860954;gnomADv4_1_AF_joint=0.0487908;gnomADv4_1_AF_joint_XX=0.0461578;gnomADv4_1_AF_joint_XY=0.0515419;gnomADv4_1_AN_grpmax_joint=4948;gnomADv4_1_AN_joint=153574;gnomADv4_1_AN_joint_XX=78470;gnomADv4_1_AN_joint_XY=75104;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=265;gnomADv4_1_nhomalt_joint_XX=126;gnomADv4_1_nhomalt_joint_XY=139;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29978292 chr22_29978292_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.428;CADD_Rawscore=0.075157;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||2/18|ENST00000323630.9:c.-405-150T>C|||||||rs9306468||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29978292T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||3/19|ENST00000333027.7:c.4-150T>C|||||||rs9306468||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29978292T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||3/18|ENST00000351488.7:c.4-150T>C|||||||rs9306468||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29978292T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||3/19|ENST00000401950.7:c.4-150T>C|||||||rs9306468||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29978292T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||1/17|ENST00000406629.1:c.4-150T>C|||||||rs9306468||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29978292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||3/5|ENST00000415511.1:n.232-150T>C|||||||rs9306468||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29978292T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||2/5|ENST00000445401.5:c.4-150T>C|||||||rs9306468||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29978292T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron|1/2||ENST00000480776.1:n.206T>C||206|||||rs9306468||1||HGNC|HGNC:7451|2||||||||Ensembl||T|T||||chr22:g.29978292T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||3/4|ENST00000495098.5:n.322-133T>C|||||||rs9306468||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29978292T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||3/19|NM_021090.4:c.4-150T>C|||||||rs9306468||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29978292T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||3/19|NM_153050.3:c.4-150T>C|||||||rs9306468||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29978292T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||3/18|NM_153051.3:c.4-150T>C|||||||rs9306468||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29978292T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-35|26|46|5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=142751;gnomADv4_1_AC_joint_XX=71038;gnomADv4_1_AC_joint_XY=71713;gnomADv4_1_AF_grpmax_joint=0.364093;gnomADv4_1_AF_joint=0.273726;gnomADv4_1_AF_joint_XX=0.279457;gnomADv4_1_AF_joint_XY=0.268277;gnomADv4_1_AN_grpmax_joint=288374;gnomADv4_1_AN_joint=521510;gnomADv4_1_AN_joint_XX=254200;gnomADv4_1_AN_joint_XY=267310;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=23814;gnomADv4_1_nhomalt_joint_XX=11933;gnomADv4_1_nhomalt_joint_XY=11881;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29978632 chr22_29978632_T_A T A 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.499;CADD_Rawscore=-0.193877;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||3/18|ENST00000323630.9:c.-316+101T>A|||||||rs997913||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29978632T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||4/19|ENST00000333027.7:c.93+101T>A|||||||rs997913||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29978632T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||4/18|ENST00000351488.7:c.93+101T>A|||||||rs997913||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29978632T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||4/19|ENST00000401950.7:c.93+101T>A|||||||rs997913||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29978632T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||2/17|ENST00000406629.1:c.93+101T>A|||||||rs997913||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29978632T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||4/5|ENST00000415511.1:n.321+101T>A|||||||rs997913||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29978632T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||3/5|ENST00000445401.5:c.93+101T>A|||||||rs997913||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29978632T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||1/1|ENST00000480776.1:n.445+101T>A|||||||rs997913||1||HGNC|HGNC:7451|2||||||||Ensembl||T|T||||chr22:g.29978632T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||4/4|ENST00000495098.5:n.428+101T>A|||||||rs997913||1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29978632T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||4/19|NM_021090.4:c.93+101T>A|||||||rs997913||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29978632T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||4/19|NM_153050.3:c.93+101T>A|||||||rs997913||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29978632T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||4/18|NM_153051.3:c.93+101T>A|||||||rs997913||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29978632T>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|6|14|-43|-27;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=336154;gnomADv4_1_AC_joint_XX=165893;gnomADv4_1_AC_joint_XY=170261;gnomADv4_1_AF_grpmax_joint=0.76065;gnomADv4_1_AF_joint=0.417776;gnomADv4_1_AF_joint_XX=0.419064;gnomADv4_1_AF_joint_XY=0.416528;gnomADv4_1_AN_grpmax_joint=35492;gnomADv4_1_AN_joint=804628;gnomADv4_1_AN_joint_XX=395866;gnomADv4_1_AN_joint_XY=408762;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=73991;gnomADv4_1_nhomalt_joint_XX=36705;gnomADv4_1_nhomalt_joint_XY=37286;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29979545 chr22_29979545_A_G A G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.92;CADD_Rawscore=0.266774;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-199+493A>G|||||||rs7284538||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29979545A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.210+493A>G|||||||rs7284538||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29979545A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.210+493A>G|||||||rs7284538||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29979545A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.210+493A>G|||||||rs7284538||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29979545A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.210+493A>G|||||||rs7284538||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29979545A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.438+493A>G|||||||rs7284538||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29979545A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.210+493A>G|||||||rs7284538||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29979545A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||||||||||rs7284538|508|1||HGNC|HGNC:7451|2||||||||Ensembl||A|A||||chr22:g.29979545A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||||||||||rs7284538|577|1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29979545A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.210+493A>G|||||||rs7284538||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29979545A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.210+493A>G|||||||rs7284538||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29979545A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.210+493A>G|||||||rs7284538||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29979545A>G|||1||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-17|-14|18|-14;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34386;gnomADv4_1_AC_joint_XX=15847;gnomADv4_1_AC_joint_XY=18539;gnomADv4_1_AF_grpmax_joint=0.239444;gnomADv4_1_AF_joint=0.165128;gnomADv4_1_AF_joint_XX=0.16261;gnomADv4_1_AF_joint_XY=0.167344;gnomADv4_1_AN_grpmax_joint=13310;gnomADv4_1_AN_joint=208238;gnomADv4_1_AN_joint_XX=97454;gnomADv4_1_AN_joint_XY=110784;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3026;gnomADv4_1_nhomalt_joint_XX=1388;gnomADv4_1_nhomalt_joint_XY=1638;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29980166 chr22_29980166_C_CTG C CTG 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=3.699;CADDIndel_Rawscore=0.338467;CSQ=TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-199+1115_-199+1116insGT|||||||rs34482486||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||1|chr22:g.29980167_29980168insGT|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.210+1115_210+1116insGT|||||||rs34482486||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||1|chr22:g.29980167_29980168insGT|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.210+1115_210+1116insGT|||||||rs34482486||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||1|chr22:g.29980167_29980168insGT|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.210+1115_210+1116insGT|||||||rs34482486||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||1|chr22:g.29980167_29980168insGT|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.210+1115_210+1116insGT|||||||rs34482486||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||1|chr22:g.29980167_29980168insGT|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.438+1115_438+1116insGT|||||||rs34482486||1||HGNC|HGNC:7451|3||||||||Ensembl||||||1|chr22:g.29980167_29980168insGT|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.210+1115_210+1116insGT|||||||rs34482486||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||1|chr22:g.29980167_29980168insGT|||||||||||||,TG|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||||||||||rs34482486|1129|1||HGNC|HGNC:7451|2||||||||Ensembl|||||||chr22:g.29980167_29980168insGT|||||||||||||,TG|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||||||||||rs34482486|1198|1||HGNC|HGNC:7451|4||||||||Ensembl|||||||chr22:g.29980167_29980168insGT|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.210+1115_210+1116insGT|||||||rs34482486||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||1|chr22:g.29980167_29980168insGT|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.210+1115_210+1116insGT|||||||rs34482486||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||1|chr22:g.29980167_29980168insGT|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.210+1115_210+1116insGT|||||||rs34482486||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||1|chr22:g.29980167_29980168insGT|||||||||||||,TG|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7XMD|enhancer||||||||||rs34482486|||||||||||||||||||||chr22:g.29980167_29980168insGT|||||||||||||;TYPE=INDEL;VEP_Allele=TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3,ENSR22_B7XMD;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897,.;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118866;gnomADv4_1_AC_joint_XX=61059;gnomADv4_1_AC_joint_XY=57807;gnomADv4_1_AF_grpmax_joint=0.912243;gnomADv4_1_AF_joint=0.783209;gnomADv4_1_AF_joint_XX=0.786255;gnomADv4_1_AF_joint_XY=0.780016;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=151768;gnomADv4_1_AN_joint_XX=77658;gnomADv4_1_AN_joint_XY=74110;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46969;gnomADv4_1_nhomalt_joint_XX=24268;gnomADv4_1_nhomalt_joint_XY=22701;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29980930 chr22_29980930_T_G T G 36 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=4.925;CADD_Rawscore=0.448883;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-199+1878T>G|||||||rs3788420||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29980930T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.210+1878T>G|||||||rs3788420||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29980930T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.210+1878T>G|||||||rs3788420||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29980930T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.210+1878T>G|||||||rs3788420||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29980930T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.210+1878T>G|||||||rs3788420||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29980930T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.438+1878T>G|||||||rs3788420||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29980930T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.210+1878T>G|||||||rs3788420||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29980930T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||||||||||rs3788420|1893|1||HGNC|HGNC:7451|2||||||||Ensembl||T|T||||chr22:g.29980930T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||||||||||rs3788420|1962|1||HGNC|HGNC:7451|4||||||||Ensembl||T|T||||chr22:g.29980930T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.210+1878T>G|||||||rs3788420||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29980930T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.210+1878T>G|||||||rs3788420||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29980930T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.210+1878T>G|||||||rs3788420||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29980930T>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|15|44|15|-5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53556;gnomADv4_1_AC_joint_XX=27420;gnomADv4_1_AC_joint_XY=26136;gnomADv4_1_AF_grpmax_joint=0.71542;gnomADv4_1_AF_joint=0.352337;gnomADv4_1_AF_joint_XX=0.353005;gnomADv4_1_AF_joint_XY=0.35164;gnomADv4_1_AN_grpmax_joint=5162;gnomADv4_1_AN_joint=152002;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10423;gnomADv4_1_nhomalt_joint_XX=5403;gnomADv4_1_nhomalt_joint_XY=5020;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29981013 chr22_29981013_A_G A G 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.622;CADD_Rawscore=0.108701;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-199+1961A>G|||||||rs3788421||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29981013A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.210+1961A>G|||||||rs3788421||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29981013A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.210+1961A>G|||||||rs3788421||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29981013A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.210+1961A>G|||||||rs3788421||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29981013A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.210+1961A>G|||||||rs3788421||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29981013A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.438+1961A>G|||||||rs3788421||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29981013A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.210+1961A>G|||||||rs3788421||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29981013A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||||||||||rs3788421|1976|1||HGNC|HGNC:7451|2||||||||Ensembl||A|A||||chr22:g.29981013A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||||||||||rs3788421|2045|1||HGNC|HGNC:7451|4||||||||Ensembl||A|A||||chr22:g.29981013A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.210+1961A>G|||||||rs3788421||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29981013A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.210+1961A>G|||||||rs3788421||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29981013A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.210+1961A>G|||||||rs3788421||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29981013A>G|||1||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|1|-2|1|30;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24495;gnomADv4_1_AC_joint_XX=12495;gnomADv4_1_AC_joint_XY=12000;gnomADv4_1_AF_grpmax_joint=0.242928;gnomADv4_1_AF_joint=0.161073;gnomADv4_1_AF_joint_XX=0.160757;gnomADv4_1_AF_joint_XY=0.161403;gnomADv4_1_AN_grpmax_joint=4808;gnomADv4_1_AN_joint=152074;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2081;gnomADv4_1_nhomalt_joint_XX=1085;gnomADv4_1_nhomalt_joint_XY=996;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29981818 chr22_29981818_C_CAA C CAA 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.536;CADDIndel_Rawscore=-0.175651;CSQ=AA|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-199+2776_-199+2777dup|||||||rs34291296||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||11|chr22:g.29981828_29981829dup|||||||||||||,AA|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.210+2776_210+2777dup|||||||rs34291296||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||11|chr22:g.29981828_29981829dup|||||||||||||,AA|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.210+2776_210+2777dup|||||||rs34291296||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||11|chr22:g.29981828_29981829dup|||||||||||||,AA|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.210+2776_210+2777dup|||||||rs34291296||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||11|chr22:g.29981828_29981829dup|||||||||||||,AA|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.210+2776_210+2777dup|||||||rs34291296||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||11|chr22:g.29981828_29981829dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.438+2776_438+2777dup|||||||rs34291296||1||HGNC|HGNC:7451|3||||||||Ensembl||||||11|chr22:g.29981828_29981829dup|||||||||||||,AA|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.210+2776_210+2777dup|||||||rs34291296||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||11|chr22:g.29981828_29981829dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||||||||||rs34291296|2781|1||HGNC|HGNC:7451|2||||||||Ensembl|||||||chr22:g.29981828_29981829dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||||||||||rs34291296|2850|1||HGNC|HGNC:7451|4||||||||Ensembl|||||||chr22:g.29981828_29981829dup|||||||||||||,AA|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.210+2776_210+2777dup|||||||rs34291296||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||11|chr22:g.29981828_29981829dup|||||||||||||,AA|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.210+2776_210+2777dup|||||||rs34291296||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||11|chr22:g.29981828_29981829dup|||||||||||||,AA|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.210+2776_210+2777dup|||||||rs34291296||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||11|chr22:g.29981828_29981829dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35262;gnomADv4_1_AC_joint_XX=19222;gnomADv4_1_AC_joint_XY=16040;gnomADv4_1_AF_grpmax_joint=0.587;gnomADv4_1_AF_joint=0.332096;gnomADv4_1_AF_joint_XX=0.341397;gnomADv4_1_AF_joint_XY=0.321598;gnomADv4_1_AN_grpmax_joint=4000;gnomADv4_1_AN_joint=106180;gnomADv4_1_AN_joint_XX=56304;gnomADv4_1_AN_joint_XY=49876;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5758;gnomADv4_1_nhomalt_joint_XX=3217;gnomADv4_1_nhomalt_joint_XY=2541;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29982211 chr22_29982211_TAAAA_T TAAAA T 33 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=33;CADDIndel_PHREDscore=0.651;CADDIndel_Rawscore=-0.12702;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-199+3186_-199+3189del|||||||rs71328819||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||AAAA|AAAA|||26|chr22:g.29982238_29982241del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.210+3186_210+3189del|||||||rs71328819||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||AAAA|AAAA|||26|chr22:g.29982238_29982241del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.210+3186_210+3189del|||||||rs71328819||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||AAAA|AAAA|||26|chr22:g.29982238_29982241del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.210+3186_210+3189del|||||||rs71328819||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||AAAA|AAAA|||26|chr22:g.29982238_29982241del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.210+3186_210+3189del|||||||rs71328819||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||AAAA|AAAA|||26|chr22:g.29982238_29982241del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.438+3186_438+3189del|||||||rs71328819||1||HGNC|HGNC:7451|3||||||||Ensembl||AAAA|AAAA|||26|chr22:g.29982238_29982241del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.210+3186_210+3189del|||||||rs71328819||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||AAAA|AAAA|||26|chr22:g.29982238_29982241del|||||||||||||,-|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||||||||||rs71328819|3175|1||HGNC|HGNC:7451|2||||||||Ensembl||AAAA|AAAA||||chr22:g.29982238_29982241del|||||||||||||,-|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||||||||||rs71328819|3244|1||HGNC|HGNC:7451|4||||||||Ensembl||AAAA|AAAA||||chr22:g.29982238_29982241del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.210+3186_210+3189del|||||||rs71328819||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||AAAA|AAAA|||26|chr22:g.29982238_29982241del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.210+3186_210+3189del|||||||rs71328819||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||AAAA|AAAA|||26|chr22:g.29982238_29982241del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.210+3186_210+3189del|||||||rs71328819||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||AAAA|AAAA|||26|chr22:g.29982238_29982241del|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|37|-18|-2|37;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7782;gnomADv4_1_AC_joint_XX=4341;gnomADv4_1_AC_joint_XY=3441;gnomADv4_1_AF_grpmax_joint=0.295389;gnomADv4_1_AF_joint=0.191364;gnomADv4_1_AF_joint_XX=0.188264;gnomADv4_1_AF_joint_XY=0.195423;gnomADv4_1_AN_grpmax_joint=694;gnomADv4_1_AN_joint=40666;gnomADv4_1_AN_joint_XX=23058;gnomADv4_1_AN_joint_XY=17608;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=380;gnomADv4_1_nhomalt_joint_XX=208;gnomADv4_1_nhomalt_joint_XY=172;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29982696 chr22_29982696_GTC_G GTC G 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=9.897;CADDIndel_Rawscore=0.9625;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-199+3646_-199+3647del|||||||rs10616206||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||TC|TC|||1|chr22:g.29982698_29982699del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.210+3646_210+3647del|||||||rs10616206||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TC|TC|||1|chr22:g.29982698_29982699del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.210+3646_210+3647del|||||||rs10616206||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||TC|TC|||1|chr22:g.29982698_29982699del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.210+3646_210+3647del|||||||rs10616206||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||TC|TC|||1|chr22:g.29982698_29982699del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.210+3646_210+3647del|||||||rs10616206||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TC|TC|||1|chr22:g.29982698_29982699del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.438+3646_438+3647del|||||||rs10616206||1||HGNC|HGNC:7451|3||||||||Ensembl||TC|TC|||1|chr22:g.29982698_29982699del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.210+3646_210+3647del|||||||rs10616206||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||TC|TC|||1|chr22:g.29982698_29982699del|||||||||||||,-|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||||||||||rs10616206|3660|1||HGNC|HGNC:7451|2||||||||Ensembl||TC|TC||||chr22:g.29982698_29982699del|||||||||||||,-|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||||||||||rs10616206|3729|1||HGNC|HGNC:7451|4||||||||Ensembl||TC|TC||||chr22:g.29982698_29982699del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.210+3646_210+3647del|||||||rs10616206||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||TC|TC|||1|chr22:g.29982698_29982699del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.210+3646_210+3647del|||||||rs10616206||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||TC|TC|||1|chr22:g.29982698_29982699del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.210+3646_210+3647del|||||||rs10616206||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||TC|TC|||1|chr22:g.29982698_29982699del|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-17|8|-3|3;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24794;gnomADv4_1_AC_joint_XX=12650;gnomADv4_1_AC_joint_XY=12144;gnomADv4_1_AF_grpmax_joint=0.242934;gnomADv4_1_AF_joint=0.163041;gnomADv4_1_AF_joint_XX=0.162688;gnomADv4_1_AF_joint_XY=0.16341;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2121;gnomADv4_1_nhomalt_joint_XX=1106;gnomADv4_1_nhomalt_joint_XY=1015;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29982937 chr22_29982937_T_TTG;chr22_29982937_TTGTGTGTGTGTG_T;chr22_29982937_T_TTGTG T TTG 38 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=0.632;CADDIndel_Rawscore=-0.134475;CSQ=TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-199+3923_-199+3924dup|||||||rs144471515||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||39|chr22:g.29982975_29982976dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.210+3923_210+3924dup|||||||rs144471515||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||39|chr22:g.29982975_29982976dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.210+3923_210+3924dup|||||||rs144471515||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||39|chr22:g.29982975_29982976dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.210+3923_210+3924dup|||||||rs144471515||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||39|chr22:g.29982975_29982976dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.210+3923_210+3924dup|||||||rs144471515||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||39|chr22:g.29982975_29982976dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.438+3923_438+3924dup|||||||rs144471515||1||HGNC|HGNC:7451|3||||||||Ensembl||||||39|chr22:g.29982975_29982976dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.210+3923_210+3924dup|||||||rs144471515||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||39|chr22:g.29982975_29982976dup|||||||||||||,TG|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||||||||||rs144471515|3900|1||HGNC|HGNC:7451|2||||||||Ensembl|||||||chr22:g.29982975_29982976dup|||||||||||||,TG|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||||||||||rs144471515|3969|1||HGNC|HGNC:7451|4||||||||Ensembl|||||||chr22:g.29982975_29982976dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.210+3923_210+3924dup|||||||rs144471515||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||39|chr22:g.29982975_29982976dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.210+3923_210+3924dup|||||||rs144471515||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||39|chr22:g.29982975_29982976dup|||||||||||||,TG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.210+3923_210+3924dup|||||||rs144471515||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||39|chr22:g.29982975_29982976dup|||||||||||||;TYPE=INDEL;VEP_Allele=TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19340;gnomADv4_1_AC_joint_XX=9942;gnomADv4_1_AC_joint_XY=9398;gnomADv4_1_AF_grpmax_joint=0.20958;gnomADv4_1_AF_joint=0.132397;gnomADv4_1_AF_joint_XX=0.132144;gnomADv4_1_AF_joint_XY=0.132665;gnomADv4_1_AN_grpmax_joint=4614;gnomADv4_1_AN_joint=146076;gnomADv4_1_AN_joint_XX=75236;gnomADv4_1_AN_joint_XY=70840;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1247;gnomADv4_1_nhomalt_joint_XX=645;gnomADv4_1_nhomalt_joint_XY=602;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29982937 chr22_29982937_T_TTG;chr22_29982937_TTGTGTGTGTGTG_T;chr22_29982937_T_TTGTG TTGTGTGTGTGTG T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.432;CADDIndel_Rawscore=-0.230058;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-199+3913_-199+3924del|||||||rs144471515||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||TGTGTGTGTGTG|TGTGTGTGTGTG|||27|chr22:g.29982965_29982976del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.210+3913_210+3924del|||||||rs144471515||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TGTGTGTGTGTG|TGTGTGTGTGTG|||27|chr22:g.29982965_29982976del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.210+3913_210+3924del|||||||rs144471515||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||TGTGTGTGTGTG|TGTGTGTGTGTG|||27|chr22:g.29982965_29982976del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.210+3913_210+3924del|||||||rs144471515||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||TGTGTGTGTGTG|TGTGTGTGTGTG|||27|chr22:g.29982965_29982976del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.210+3913_210+3924del|||||||rs144471515||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TGTGTGTGTGTG|TGTGTGTGTGTG|||27|chr22:g.29982965_29982976del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.438+3913_438+3924del|||||||rs144471515||1||HGNC|HGNC:7451|3||||||||Ensembl||TGTGTGTGTGTG|TGTGTGTGTGTG|||27|chr22:g.29982965_29982976del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.210+3913_210+3924del|||||||rs144471515||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||TGTGTGTGTGTG|TGTGTGTGTGTG|||27|chr22:g.29982965_29982976del|||||||||||||,-|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||||||||||rs144471515|3901|1||HGNC|HGNC:7451|2||||||||Ensembl||TGTGTGTGTGTG|TGTGTGTGTGTG||||chr22:g.29982965_29982976del|||||||||||||,-|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||||||||||rs144471515|3970|1||HGNC|HGNC:7451|4||||||||Ensembl||TGTGTGTGTGTG|TGTGTGTGTGTG||||chr22:g.29982965_29982976del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.210+3913_210+3924del|||||||rs144471515||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||TGTGTGTGTGTG|TGTGTGTGTGTG|||27|chr22:g.29982965_29982976del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.210+3913_210+3924del|||||||rs144471515||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||TGTGTGTGTGTG|TGTGTGTGTGTG|||27|chr22:g.29982965_29982976del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.210+3913_210+3924del|||||||rs144471515||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||TGTGTGTGTGTG|TGTGTGTGTGTG|||27|chr22:g.29982965_29982976del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41739;gnomADv4_1_AC_joint_XX=21885;gnomADv4_1_AC_joint_XY=19854;gnomADv4_1_AF_grpmax_joint=0.503826;gnomADv4_1_AF_joint=0.285184;gnomADv4_1_AF_joint_XX=0.290406;gnomADv4_1_AF_joint_XY=0.279642;gnomADv4_1_AN_grpmax_joint=4966;gnomADv4_1_AN_joint=146358;gnomADv4_1_AN_joint_XX=75360;gnomADv4_1_AN_joint_XY=70998;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6768;gnomADv4_1_nhomalt_joint_XX=3659;gnomADv4_1_nhomalt_joint_XY=3109;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29982937 chr22_29982937_T_TTG;chr22_29982937_TTGTGTGTGTGTG_T;chr22_29982937_T_TTGTG T TTGTG 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.609;CADDIndel_Rawscore=-0.14375;CSQ=TGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-199+3921_-199+3924dup|||||||rs144471515||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||39|chr22:g.29982973_29982976dup|||||||||||||,TGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.210+3921_210+3924dup|||||||rs144471515||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||39|chr22:g.29982973_29982976dup|||||||||||||,TGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.210+3921_210+3924dup|||||||rs144471515||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||39|chr22:g.29982973_29982976dup|||||||||||||,TGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.210+3921_210+3924dup|||||||rs144471515||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||39|chr22:g.29982973_29982976dup|||||||||||||,TGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.210+3921_210+3924dup|||||||rs144471515||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||39|chr22:g.29982973_29982976dup|||||||||||||,TGTG|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.438+3921_438+3924dup|||||||rs144471515||1||HGNC|HGNC:7451|3||||||||Ensembl||||||39|chr22:g.29982973_29982976dup|||||||||||||,TGTG|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.210+3921_210+3924dup|||||||rs144471515||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||39|chr22:g.29982973_29982976dup|||||||||||||,TGTG|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000480776|retained_intron||||||||||rs144471515|3900|1||HGNC|HGNC:7451|2||||||||Ensembl|||||||chr22:g.29982973_29982976dup|||||||||||||,TGTG|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000495098|protein_coding_CDS_not_defined||||||||||rs144471515|3969|1||HGNC|HGNC:7451|4||||||||Ensembl|||||||chr22:g.29982973_29982976dup|||||||||||||,TGTG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.210+3921_210+3924dup|||||||rs144471515||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||39|chr22:g.29982973_29982976dup|||||||||||||,TGTG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.210+3921_210+3924dup|||||||rs144471515||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||39|chr22:g.29982973_29982976dup|||||||||||||,TGTG|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.210+3921_210+3924dup|||||||rs144471515||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||39|chr22:g.29982973_29982976dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGTG,TGTG,TGTG,TGTG,TGTG,TGTG,TGTG,TGTG,TGTG,TGTG,TGTG,TGTG;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,ENST00000480776,ENST00000495098,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25977;gnomADv4_1_AC_joint_XX=13389;gnomADv4_1_AC_joint_XY=12588;gnomADv4_1_AF_grpmax_joint=0.251773;gnomADv4_1_AF_joint=0.17791;gnomADv4_1_AF_joint_XX=0.178012;gnomADv4_1_AF_joint_XY=0.177802;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=146012;gnomADv4_1_AN_joint_XX=75214;gnomADv4_1_AN_joint_XY=70798;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2353;gnomADv4_1_nhomalt_joint_XX=1194;gnomADv4_1_nhomalt_joint_XY=1159;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29985800 chr22_29985800_T_G T G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=5.068;CADD_Rawscore=0.462264;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-198-2680T>G|||||||rs2412962||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29985800T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.211-2680T>G|||||||rs2412962||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29985800T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.211-2680T>G|||||||rs2412962||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29985800T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.211-2680T>G|||||||rs2412962||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29985800T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.211-2680T>G|||||||rs2412962||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29985800T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.439-5704T>G|||||||rs2412962||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29985800T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.211-2680T>G|||||||rs2412962||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29985800T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.211-2680T>G|||||||rs2412962||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29985800T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.211-2680T>G|||||||rs2412962||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29985800T>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.211-2680T>G|||||||rs2412962||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29985800T>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|1|6|-1|-2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8238;gnomADv4_1_AC_joint_XX=3905;gnomADv4_1_AC_joint_XY=4333;gnomADv4_1_AF_grpmax_joint=0.160381;gnomADv4_1_AF_joint=0.05408;gnomADv4_1_AF_joint_XX=0.0501554;gnomADv4_1_AF_joint_XY=0.0581829;gnomADv4_1_AN_grpmax_joint=4826;gnomADv4_1_AN_joint=152330;gnomADv4_1_AN_joint_XX=77858;gnomADv4_1_AN_joint_XY=74472;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=329;gnomADv4_1_nhomalt_joint_XX=147;gnomADv4_1_nhomalt_joint_XY=182;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29986502 chr22_29986502_G_GT G GT 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.403;CADDIndel_Rawscore=-0.247044;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-198-1967dup|||||||rs57076001||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||11|chr22:g.29986513dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.211-1967dup|||||||rs57076001||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||11|chr22:g.29986513dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.211-1967dup|||||||rs57076001||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||11|chr22:g.29986513dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.211-1967dup|||||||rs57076001||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||11|chr22:g.29986513dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.211-1967dup|||||||rs57076001||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||11|chr22:g.29986513dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.439-4991dup|||||||rs57076001||1||HGNC|HGNC:7451|3||||||||Ensembl||||||11|chr22:g.29986513dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.211-1967dup|||||||rs57076001||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||11|chr22:g.29986513dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.211-1967dup|||||||rs57076001||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||11|chr22:g.29986513dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.211-1967dup|||||||rs57076001||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||11|chr22:g.29986513dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.211-1967dup|||||||rs57076001||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||11|chr22:g.29986513dup|||||||||||||;SpliceAI=GT|MTMR3|0.00|0.00|0.00|0.00|21|29|-8|-9;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=246274;gnomADv4_1_AC_joint_XX=130947;gnomADv4_1_AC_joint_XY=115327;gnomADv4_1_AF_grpmax_joint=0.556729;gnomADv4_1_AF_joint=0.352739;gnomADv4_1_AF_joint_XX=0.353938;gnomADv4_1_AF_joint_XY=0.351388;gnomADv4_1_AN_grpmax_joint=7386;gnomADv4_1_AN_joint=698176;gnomADv4_1_AN_joint_XX=369972;gnomADv4_1_AN_joint_XY=328204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=20906;gnomADv4_1_nhomalt_joint_XX=11277;gnomADv4_1_nhomalt_joint_XY=9629;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29986664 chr22_29986664_C_CT C CT 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.181;CADDIndel_Rawscore=-0.452801;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-198-1806dup|||||||rs66590707||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||10|chr22:g.29986674dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.211-1806dup|||||||rs66590707||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||10|chr22:g.29986674dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.211-1806dup|||||||rs66590707||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||10|chr22:g.29986674dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.211-1806dup|||||||rs66590707||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||10|chr22:g.29986674dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.211-1806dup|||||||rs66590707||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||10|chr22:g.29986674dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.439-4830dup|||||||rs66590707||1||HGNC|HGNC:7451|3||||||||Ensembl||||||10|chr22:g.29986674dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.211-1806dup|||||||rs66590707||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||||||10|chr22:g.29986674dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.211-1806dup|||||||rs66590707||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||10|chr22:g.29986674dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.211-1806dup|||||||rs66590707||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||10|chr22:g.29986674dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.211-1806dup|||||||rs66590707||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||10|chr22:g.29986674dup|||||||||||||;SpliceAI=CT|MTMR3|0.00|0.00|0.01|0.00|26|20|-24|-25;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=235016;gnomADv4_1_AC_joint_XX=125038;gnomADv4_1_AC_joint_XY=109978;gnomADv4_1_AF_grpmax_joint=0.559816;gnomADv4_1_AF_joint=0.311984;gnomADv4_1_AF_joint_XX=0.31313;gnomADv4_1_AF_joint_XY=0.310692;gnomADv4_1_AN_grpmax_joint=7406;gnomADv4_1_AN_joint=753294;gnomADv4_1_AN_joint_XX=399316;gnomADv4_1_AN_joint_XY=353978;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21123;gnomADv4_1_nhomalt_joint_XX=11337;gnomADv4_1_nhomalt_joint_XY=9786;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29986807 chr22_29986807_A_G A G 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.944;CADD_Rawscore=-0.032718;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-198-1673A>G|||||||rs715523||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29986807A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.211-1673A>G|||||||rs715523||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29986807A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.211-1673A>G|||||||rs715523||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29986807A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.211-1673A>G|||||||rs715523||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29986807A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.211-1673A>G|||||||rs715523||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29986807A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.439-4697A>G|||||||rs715523||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29986807A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.211-1673A>G|||||||rs715523||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29986807A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.211-1673A>G|||||||rs715523||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29986807A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.211-1673A>G|||||||rs715523||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29986807A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.211-1673A>G|||||||rs715523||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29986807A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-1|35|-1|18;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=116843;gnomADv4_1_AC_joint_XX=59816;gnomADv4_1_AC_joint_XY=57027;gnomADv4_1_AF_grpmax_joint=0.913421;gnomADv4_1_AF_joint=0.738372;gnomADv4_1_AF_joint_XX=0.739419;gnomADv4_1_AF_joint_XY=0.737278;gnomADv4_1_AN_grpmax_joint=5186;gnomADv4_1_AN_joint=158244;gnomADv4_1_AN_joint_XX=80896;gnomADv4_1_AN_joint_XY=77348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=43301;gnomADv4_1_nhomalt_joint_XX=22226;gnomADv4_1_nhomalt_joint_XY=21075;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29986820 chr22_29986820_TTACAGGCATGCACCAAA_T TTACAGGCATGCACCAAA T 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.474;CADDIndel_Rawscore=-0.206313;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-198-1625_-198-1609del|||||||rs369756188||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||TACAGGCATGCACCAAA|TACAGGCATGCACCAAA|||34|chr22:g.29986855_29986871del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.211-1625_211-1609del|||||||rs369756188||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TACAGGCATGCACCAAA|TACAGGCATGCACCAAA|||34|chr22:g.29986855_29986871del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.211-1625_211-1609del|||||||rs369756188||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||TACAGGCATGCACCAAA|TACAGGCATGCACCAAA|||34|chr22:g.29986855_29986871del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.211-1625_211-1609del|||||||rs369756188||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||TACAGGCATGCACCAAA|TACAGGCATGCACCAAA|||34|chr22:g.29986855_29986871del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.211-1625_211-1609del|||||||rs369756188||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||TACAGGCATGCACCAAA|TACAGGCATGCACCAAA|||34|chr22:g.29986855_29986871del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.439-4649_439-4633del|||||||rs369756188||1||HGNC|HGNC:7451|3||||||||Ensembl||TACAGGCATGCACCAAA|TACAGGCATGCACCAAA|||34|chr22:g.29986855_29986871del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.211-1625_211-1609del|||||||rs369756188||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||TACAGGCATGCACCAAA|TACAGGCATGCACCAAA|||34|chr22:g.29986855_29986871del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.211-1625_211-1609del|||||||rs369756188||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||TACAGGCATGCACCAAA|TACAGGCATGCACCAAA|||34|chr22:g.29986855_29986871del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.211-1625_211-1609del|||||||rs369756188||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||TACAGGCATGCACCAAA|TACAGGCATGCACCAAA|||34|chr22:g.29986855_29986871del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.211-1625_211-1609del|||||||rs369756188||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||TACAGGCATGCACCAAA|TACAGGCATGCACCAAA|||34|chr22:g.29986855_29986871del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9613;gnomADv4_1_AC_joint_XX=4714;gnomADv4_1_AC_joint_XY=4899;gnomADv4_1_AF_grpmax_joint=0.158038;gnomADv4_1_AF_joint=0.0625407;gnomADv4_1_AF_joint_XX=0.0599852;gnomADv4_1_AF_joint_XY=0.0652139;gnomADv4_1_AN_grpmax_joint=4790;gnomADv4_1_AN_joint=153708;gnomADv4_1_AN_joint_XX=78586;gnomADv4_1_AN_joint_XY=75122;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=434;gnomADv4_1_nhomalt_joint_XX=207;gnomADv4_1_nhomalt_joint_XY=227;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29987030 chr22_29987030_C_A C A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.554;CADD_Rawscore=-0.167496;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-198-1450C>A|||||||rs113085351||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29987030C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.211-1450C>A|||||||rs113085351||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29987030C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.211-1450C>A|||||||rs113085351||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29987030C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.211-1450C>A|||||||rs113085351||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29987030C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.211-1450C>A|||||||rs113085351||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29987030C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.439-4474C>A|||||||rs113085351||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29987030C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.211-1450C>A|||||||rs113085351||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29987030C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.211-1450C>A|||||||rs113085351||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29987030C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.211-1450C>A|||||||rs113085351||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29987030C>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.211-1450C>A|||||||rs113085351||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29987030C>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|41|-11|-1|0;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6;gnomADv4_1_AC_joint_XX=4;gnomADv4_1_AC_joint_XY=2;gnomADv4_1_AF_grpmax_joint=0.00041425;gnomADv4_1_AF_joint=3.94011e-05;gnomADv4_1_AF_joint_XX=5.14073e-05;gnomADv4_1_AF_joint_XY=2.68565e-05;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=152280;gnomADv4_1_AN_joint_XX=77810;gnomADv4_1_AN_joint_XY=74470;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29987273 chr22_29987273_G_C G C 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.786;CADD_Rawscore=-0.079647;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-198-1207G>C|||||||rs2017677||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29987273G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.211-1207G>C|||||||rs2017677||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29987273G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.211-1207G>C|||||||rs2017677||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29987273G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.211-1207G>C|||||||rs2017677||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29987273G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.211-1207G>C|||||||rs2017677||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29987273G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.439-4231G>C|||||||rs2017677||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29987273G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.211-1207G>C|||||||rs2017677||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29987273G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.211-1207G>C|||||||rs2017677||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29987273G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.211-1207G>C|||||||rs2017677||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29987273G>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.211-1207G>C|||||||rs2017677||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29987273G>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-45|30|20|-6;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=112394;gnomADv4_1_AC_joint_XX=57489;gnomADv4_1_AC_joint_XY=54905;gnomADv4_1_AF_grpmax_joint=0.912649;gnomADv4_1_AF_joint=0.73856;gnomADv4_1_AF_joint_XX=0.739294;gnomADv4_1_AF_joint_XY=0.737792;gnomADv4_1_AN_grpmax_joint=5186;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41645;gnomADv4_1_nhomalt_joint_XX=21353;gnomADv4_1_nhomalt_joint_XY=20292;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29987627 chr22_29987627_A_C A C 54 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.236;CADD_Rawscore=-0.383607;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-198-853A>C|||||||rs9614127||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29987627A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.211-853A>C|||||||rs9614127||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29987627A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.211-853A>C|||||||rs9614127||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29987627A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.211-853A>C|||||||rs9614127||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29987627A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.211-853A>C|||||||rs9614127||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29987627A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.439-3877A>C|||||||rs9614127||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29987627A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.211-853A>C|||||||rs9614127||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29987627A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.211-853A>C|||||||rs9614127||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29987627A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.211-853A>C|||||||rs9614127||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29987627A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.211-853A>C|||||||rs9614127||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29987627A>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|27|14|49|25;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24430;gnomADv4_1_AC_joint_XX=12471;gnomADv4_1_AC_joint_XY=11959;gnomADv4_1_AF_grpmax_joint=0.243148;gnomADv4_1_AF_joint=0.160542;gnomADv4_1_AF_joint_XX=0.160292;gnomADv4_1_AF_joint_XY=0.160804;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=152172;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2065;gnomADv4_1_nhomalt_joint_XX=1080;gnomADv4_1_nhomalt_joint_XY=985;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29987769 chr22_29987769_C_G C G 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=7.1;CADD_Rawscore=0.668982;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-198-711C>G|||||||rs5763670||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29987769C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.211-711C>G|||||||rs5763670||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29987769C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.211-711C>G|||||||rs5763670||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29987769C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.211-711C>G|||||||rs5763670||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29987769C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.211-711C>G|||||||rs5763670||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29987769C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.439-3735C>G|||||||rs5763670||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29987769C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.211-711C>G|||||||rs5763670||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29987769C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.211-711C>G|||||||rs5763670||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29987769C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.211-711C>G|||||||rs5763670||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29987769C>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.211-711C>G|||||||rs5763670||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29987769C>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-47|11|19|-27;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44386;gnomADv4_1_AC_joint_XX=23165;gnomADv4_1_AC_joint_XY=21221;gnomADv4_1_AF_grpmax_joint=0.607836;gnomADv4_1_AF_joint=0.291844;gnomADv4_1_AF_joint_XX=0.297866;gnomADv4_1_AF_joint_XY=0.285543;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7626;gnomADv4_1_nhomalt_joint_XX=4098;gnomADv4_1_nhomalt_joint_XY=3528;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29988055 chr22_29988055_C_T C T 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.794;CADD_Rawscore=-0.076982;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-198-425C>T|||||||rs5752992||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29988055C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.211-425C>T|||||||rs5752992||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29988055C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.211-425C>T|||||||rs5752992||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29988055C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.211-425C>T|||||||rs5752992||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29988055C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.211-425C>T|||||||rs5752992||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29988055C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.439-3449C>T|||||||rs5752992||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29988055C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.211-425C>T|||||||rs5752992||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29988055C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.211-425C>T|||||||rs5752992||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29988055C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.211-425C>T|||||||rs5752992||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29988055C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.211-425C>T|||||||rs5752992||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29988055C>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|46|34|18|-38;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54135;gnomADv4_1_AC_joint_XX=27714;gnomADv4_1_AC_joint_XY=26421;gnomADv4_1_AF_grpmax_joint=0.716821;gnomADv4_1_AF_joint=0.354565;gnomADv4_1_AF_joint_XX=0.355208;gnomADv4_1_AF_joint_XY=0.353894;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152680;gnomADv4_1_AN_joint_XX=78022;gnomADv4_1_AN_joint_XY=74658;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10538;gnomADv4_1_nhomalt_joint_XX=5441;gnomADv4_1_nhomalt_joint_XY=5097;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29988064 chr22_29988064_A_G A G 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.751;CADD_Rawscore=0.128734;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-198-416A>G|||||||rs17713999||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29988064A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.211-416A>G|||||||rs17713999||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29988064A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.211-416A>G|||||||rs17713999||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29988064A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.211-416A>G|||||||rs17713999||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29988064A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.211-416A>G|||||||rs17713999||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29988064A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.439-3440A>G|||||||rs17713999||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29988064A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.211-416A>G|||||||rs17713999||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29988064A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.211-416A>G|||||||rs17713999||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29988064A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.211-416A>G|||||||rs17713999||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29988064A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.211-416A>G|||||||rs17713999||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29988064A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-12|32|9|5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8068;gnomADv4_1_AC_joint_XX=4356;gnomADv4_1_AC_joint_XY=3712;gnomADv4_1_AF_grpmax_joint=0.0773562;gnomADv4_1_AF_joint=0.0527796;gnomADv4_1_AF_joint_XX=0.0557761;gnomADv4_1_AF_joint_XY=0.0496496;gnomADv4_1_AN_grpmax_joint=68372;gnomADv4_1_AN_joint=152862;gnomADv4_1_AN_joint_XX=78098;gnomADv4_1_AN_joint_XY=74764;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=304;gnomADv4_1_nhomalt_joint_XX=165;gnomADv4_1_nhomalt_joint_XY=139;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29988115 chr22_29988115_T_A T A 54 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=3.469;CADD_Rawscore=0.317888;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||4/18|ENST00000323630.9:c.-198-365T>A|||||||rs2285667||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29988115T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||5/19|ENST00000333027.7:c.211-365T>A|||||||rs2285667||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29988115T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||5/18|ENST00000351488.7:c.211-365T>A|||||||rs2285667||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29988115T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||5/19|ENST00000401950.7:c.211-365T>A|||||||rs2285667||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29988115T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||3/17|ENST00000406629.1:c.211-365T>A|||||||rs2285667||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29988115T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.439-3389T>A|||||||rs2285667||1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29988115T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||4/5|ENST00000445401.5:c.211-365T>A|||||||rs2285667||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29988115T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||5/19|NM_021090.4:c.211-365T>A|||||||rs2285667||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29988115T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||5/19|NM_153050.3:c.211-365T>A|||||||rs2285667||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29988115T>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||5/18|NM_153051.3:c.211-365T>A|||||||rs2285667||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29988115T>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|-23|9|39|13;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45654;gnomADv4_1_AC_joint_XX=23773;gnomADv4_1_AC_joint_XY=21881;gnomADv4_1_AF_grpmax_joint=0.610717;gnomADv4_1_AF_joint=0.293516;gnomADv4_1_AF_joint_XX=0.299295;gnomADv4_1_AF_joint_XY=0.287484;gnomADv4_1_AN_grpmax_joint=5356;gnomADv4_1_AN_joint=155542;gnomADv4_1_AN_joint_XX=79430;gnomADv4_1_AN_joint_XY=76112;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7869;gnomADv4_1_nhomalt_joint_XX=4207;gnomADv4_1_nhomalt_joint_XY=3662;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29988583 chr22_29988583_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=2.816;CADD_Rawscore=0.256552;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||5/18|ENST00000323630.9:c.-116+21G>A|||||||rs5763671||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29988583G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||6/19|ENST00000333027.7:c.293+21G>A|||||||rs5763671||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29988583G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||6/18|ENST00000351488.7:c.293+21G>A|||||||rs5763671||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29988583G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||6/19|ENST00000401950.7:c.293+21G>A|||||||rs5763671||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29988583G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||4/17|ENST00000406629.1:c.293+21G>A|||||||rs5763671||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29988583G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.439-2921G>A|||||||rs5763671||1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29988583G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||5/5|ENST00000445401.5:c.293+21G>A|||||||rs5763671||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29988583G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||6/19|NM_021090.4:c.293+21G>A|||||||rs5763671||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29988583G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||6/19|NM_153050.3:c.293+21G>A|||||||rs5763671||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29988583G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||6/18|NM_153051.3:c.293+21G>A|||||||rs5763671||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29988583G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.01|0.00|-27|-20|-9|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=624795;gnomADv4_1_AC_joint_XX=315160;gnomADv4_1_AC_joint_XY=309635;gnomADv4_1_AF_grpmax_joint=0.751821;gnomADv4_1_AF_joint=0.399437;gnomADv4_1_AF_joint_XX=0.399878;gnomADv4_1_AF_joint_XY=0.398989;gnomADv4_1_AN_grpmax_joint=44202;gnomADv4_1_AN_joint=1564188;gnomADv4_1_AN_joint_XX=788140;gnomADv4_1_AN_joint_XY=776048;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=129843;gnomADv4_1_nhomalt_joint_XX=65694;gnomADv4_1_nhomalt_joint_XY=64149;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29990369 chr22_29990369_C_T C T 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.429;CADD_Rawscore=0.075296;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||5/18|ENST00000323630.9:c.-115-1135C>T|||||||rs5763674||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29990369C>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||6/19|ENST00000333027.7:c.294-1135C>T|||||||rs5763674||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29990369C>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||6/18|ENST00000351488.7:c.294-1135C>T|||||||rs5763674||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29990369C>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||6/19|ENST00000401950.7:c.294-1135C>T|||||||rs5763674||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29990369C>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||4/17|ENST00000406629.1:c.294-1135C>T|||||||rs5763674||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29990369C>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.439-1135C>T|||||||rs5763674||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29990369C>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||5/5|ENST00000445401.5:c.294-1135C>T|||||||rs5763674||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29990369C>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||6/19|NM_021090.4:c.294-1135C>T|||||||rs5763674||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29990369C>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||6/19|NM_153050.3:c.294-1135C>T|||||||rs5763674||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29990369C>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||6/18|NM_153051.3:c.294-1135C>T|||||||rs5763674||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29990369C>T|||1||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|-27|-21|-27|-23;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119136;gnomADv4_1_AC_joint_XX=61070;gnomADv4_1_AC_joint_XY=58066;gnomADv4_1_AF_grpmax_joint=0.91956;gnomADv4_1_AF_joint=0.783079;gnomADv4_1_AF_joint_XX=0.785284;gnomADv4_1_AF_joint_XY=0.780772;gnomADv4_1_AN_grpmax_joint=5184;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=47077;gnomADv4_1_nhomalt_joint_XX=24245;gnomADv4_1_nhomalt_joint_XY=22832;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29990396 chr22_29990396_A_G A G 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=3.712;CADD_Rawscore=0.339652;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||5/18|ENST00000323630.9:c.-115-1108A>G|||||||rs5763675||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29990396A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||6/19|ENST00000333027.7:c.294-1108A>G|||||||rs5763675||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29990396A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||6/18|ENST00000351488.7:c.294-1108A>G|||||||rs5763675||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29990396A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||6/19|ENST00000401950.7:c.294-1108A>G|||||||rs5763675||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29990396A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||4/17|ENST00000406629.1:c.294-1108A>G|||||||rs5763675||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29990396A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.439-1108A>G|||||||rs5763675||1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29990396A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||5/5|ENST00000445401.5:c.294-1108A>G|||||||rs5763675||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29990396A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||6/19|NM_021090.4:c.294-1108A>G|||||||rs5763675||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29990396A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||6/19|NM_153050.3:c.294-1108A>G|||||||rs5763675||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29990396A>G|||||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||6/18|NM_153051.3:c.294-1108A>G|||||||rs5763675||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29990396A>G|||||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|0|-48|-50|5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118889;gnomADv4_1_AC_joint_XX=60975;gnomADv4_1_AC_joint_XY=57914;gnomADv4_1_AF_grpmax_joint=0.912867;gnomADv4_1_AF_joint=0.781825;gnomADv4_1_AF_joint_XX=0.784507;gnomADv4_1_AF_joint_XY=0.779021;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152066;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74342;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46899;gnomADv4_1_nhomalt_joint_XX=24182;gnomADv4_1_nhomalt_joint_XY=22717;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29991171 chr22_29991171_C_T C T 61 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=61;CADD_PHREDscore=6.725;CADD_Rawscore=0.628528;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||5/18|ENST00000323630.9:c.-115-333C>T|||||||rs5752993||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29991171C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||6/19|ENST00000333027.7:c.294-333C>T|||||||rs5752993||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29991171C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||6/18|ENST00000351488.7:c.294-333C>T|||||||rs5752993||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29991171C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||6/19|ENST00000401950.7:c.294-333C>T|||||||rs5752993||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29991171C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||4/17|ENST00000406629.1:c.294-333C>T|||||||rs5752993||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29991171C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||5/5|ENST00000415511.1:n.439-333C>T|||||||rs5752993||1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29991171C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||5/5|ENST00000445401.5:c.294-333C>T|||||||rs5752993||1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29991171C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||6/19|NM_021090.4:c.294-333C>T|||||||rs5752993||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29991171C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||6/19|NM_153050.3:c.294-333C>T|||||||rs5752993||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29991171C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||6/18|NM_153051.3:c.294-333C>T|||||||rs5752993||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29991171C>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|8|-17|44|10;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129621;gnomADv4_1_AC_joint_XX=66232;gnomADv4_1_AC_joint_XY=63389;gnomADv4_1_AF_grpmax_joint=0.913378;gnomADv4_1_AF_joint=0.779441;gnomADv4_1_AF_joint_XX=0.782108;gnomADv4_1_AF_joint_XY=0.776674;gnomADv4_1_AN_grpmax_joint=5980;gnomADv4_1_AN_joint=166300;gnomADv4_1_AN_joint_XX=84684;gnomADv4_1_AN_joint_XY=81616;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=51018;gnomADv4_1_nhomalt_joint_XX=26204;gnomADv4_1_nhomalt_joint_XY=24814;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29992313 chr22_29992313_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.736;CADD_Rawscore=0.126481;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||6/18|ENST00000323630.9:c.52+643G>A|||||||rs737908||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29992313G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||7/19|ENST00000333027.7:c.460+643G>A|||||||rs737908||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29992313G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||7/18|ENST00000351488.7:c.460+643G>A|||||||rs737908||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29992313G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||7/19|ENST00000401950.7:c.460+643G>A|||||||rs737908||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29992313G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||5/17|ENST00000406629.1:c.460+643G>A|||||||rs737908||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29992313G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||||||||||rs737908|644|1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29992313G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||||||||||rs737908|685|1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29992313G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||7/19|NM_021090.4:c.460+643G>A|||||||rs737908||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29992313G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||7/19|NM_153050.3:c.460+643G>A|||||||rs737908||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29992313G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||7/18|NM_153051.3:c.460+643G>A|||||||rs737908||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29992313G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|32|-48|-32|-12;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55796;gnomADv4_1_AC_joint_XX=28626;gnomADv4_1_AC_joint_XY=27170;gnomADv4_1_AF_grpmax_joint=0.717029;gnomADv4_1_AF_joint=0.367103;gnomADv4_1_AF_joint_XX=0.368597;gnomADv4_1_AF_joint_XY=0.365542;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10923;gnomADv4_1_nhomalt_joint_XX=5653;gnomADv4_1_nhomalt_joint_XY=5270;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29992612 chr22_29992612_C_T C T 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=3.459;CADD_Rawscore=0.317018;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||6/18|ENST00000323630.9:c.52+942C>T|||||||rs2007446||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29992612C>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||7/19|ENST00000333027.7:c.460+942C>T|||||||rs2007446||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29992612C>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||7/18|ENST00000351488.7:c.460+942C>T|||||||rs2007446||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29992612C>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||7/19|ENST00000401950.7:c.460+942C>T|||||||rs2007446||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29992612C>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||5/17|ENST00000406629.1:c.460+942C>T|||||||rs2007446||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29992612C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||||||||||rs2007446|943|1||HGNC|HGNC:7451|3||||||||Ensembl||C|C||||chr22:g.29992612C>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||||||||||rs2007446|984|1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||C|C||||chr22:g.29992612C>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||7/19|NM_021090.4:c.460+942C>T|||||||rs2007446||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29992612C>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||7/19|NM_153050.3:c.460+942C>T|||||||rs2007446||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29992612C>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||7/18|NM_153051.3:c.460+942C>T|||||||rs2007446||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29992612C>T|||1||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|17|-15|-16|40;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44308;gnomADv4_1_AC_joint_XX=23110;gnomADv4_1_AC_joint_XY=21198;gnomADv4_1_AF_grpmax_joint=0.607752;gnomADv4_1_AF_joint=0.291354;gnomADv4_1_AF_joint_XX=0.297258;gnomADv4_1_AF_joint_XY=0.28518;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=152076;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7615;gnomADv4_1_nhomalt_joint_XX=4088;gnomADv4_1_nhomalt_joint_XY=3527;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29992717 chr22_29992717_A_G A G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=3.013;CADD_Rawscore=0.275695;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||6/18|ENST00000323630.9:c.52+1047A>G|||||||rs2007458||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29992717A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||7/19|ENST00000333027.7:c.460+1047A>G|||||||rs2007458||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29992717A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||7/18|ENST00000351488.7:c.460+1047A>G|||||||rs2007458||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29992717A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||7/19|ENST00000401950.7:c.460+1047A>G|||||||rs2007458||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29992717A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||5/17|ENST00000406629.1:c.460+1047A>G|||||||rs2007458||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29992717A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||||||||||rs2007458|1048|1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29992717A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||||||||||rs2007458|1089|1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29992717A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||7/19|NM_021090.4:c.460+1047A>G|||||||rs2007458||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29992717A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||7/19|NM_153050.3:c.460+1047A>G|||||||rs2007458||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29992717A>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||7/18|NM_153051.3:c.460+1047A>G|||||||rs2007458||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29992717A>G|||1||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7XP9|enhancer||||||||||rs2007458|||||||||||||||||||||chr22:g.29992717A>G|||1||||||||||;SpliceAI=G|MTMR3|0.07|0.00|0.05|0.00|-34|50|-1|44;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3,ENSR22_B7XP9;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897,.;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53847;gnomADv4_1_AC_joint_XX=27584;gnomADv4_1_AC_joint_XY=26263;gnomADv4_1_AF_grpmax_joint=0.715501;gnomADv4_1_AF_joint=0.354112;gnomADv4_1_AF_joint_XX=0.354888;gnomADv4_1_AF_joint_XY=0.353301;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152062;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74336;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10495;gnomADv4_1_nhomalt_joint_XX=5424;gnomADv4_1_nhomalt_joint_XY=5071;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29992769 chr22_29992769_T_G T G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.541;CADD_Rawscore=-0.173507;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||6/18|ENST00000323630.9:c.52+1099T>G|||||||rs737909||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29992769T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||7/19|ENST00000333027.7:c.460+1099T>G|||||||rs737909||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29992769T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||7/18|ENST00000351488.7:c.460+1099T>G|||||||rs737909||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29992769T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||7/19|ENST00000401950.7:c.460+1099T>G|||||||rs737909||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29992769T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||5/17|ENST00000406629.1:c.460+1099T>G|||||||rs737909||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29992769T>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||||||||||rs737909|1100|1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29992769T>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||||||||||rs737909|1141|1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29992769T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||7/19|NM_021090.4:c.460+1099T>G|||||||rs737909||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29992769T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||7/19|NM_153050.3:c.460+1099T>G|||||||rs737909||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29992769T>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||7/18|NM_153051.3:c.460+1099T>G|||||||rs737909||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29992769T>G|||1||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7XP9|enhancer||||||||||rs737909|||||||||||||||||||||chr22:g.29992769T>G|||1||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-2|37|-38|-50;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3,ENSR22_B7XP9;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897,.;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111833;gnomADv4_1_AC_joint_XX=57260;gnomADv4_1_AC_joint_XY=54573;gnomADv4_1_AF_grpmax_joint=0.912833;gnomADv4_1_AF_joint=0.735124;gnomADv4_1_AF_joint_XX=0.736349;gnomADv4_1_AF_joint_XY=0.733843;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152128;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41265;gnomADv4_1_nhomalt_joint_XX=21178;gnomADv4_1_nhomalt_joint_XY=20087;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29993167 chr22_29993167_A_T A T 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.609;CADD_Rawscore=-0.144057;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||6/18|ENST00000323630.9:c.52+1497A>T|||||||rs8139217||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29993167A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||7/19|ENST00000333027.7:c.460+1497A>T|||||||rs8139217||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29993167A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||7/18|ENST00000351488.7:c.460+1497A>T|||||||rs8139217||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29993167A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||7/19|ENST00000401950.7:c.460+1497A>T|||||||rs8139217||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29993167A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||5/17|ENST00000406629.1:c.460+1497A>T|||||||rs8139217||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29993167A>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||||||||||rs8139217|1498|1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29993167A>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||||||||||rs8139217|1539|1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29993167A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||7/19|NM_021090.4:c.460+1497A>T|||||||rs8139217||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29993167A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||7/19|NM_153050.3:c.460+1497A>T|||||||rs8139217||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29993167A>T|||1||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||7/18|NM_153051.3:c.460+1497A>T|||||||rs8139217||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29993167A>T|||1||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_B7XP9|enhancer||||||||||rs8139217|||||||||||||||||||||chr22:g.29993167A>T|||1||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|-9|-49|-2|48;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3,ENSR22_B7XP9;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897,.;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24485;gnomADv4_1_AC_joint_XX=12487;gnomADv4_1_AC_joint_XY=11998;gnomADv4_1_AF_grpmax_joint=0.243574;gnomADv4_1_AF_joint=0.160834;gnomADv4_1_AF_joint_XX=0.160522;gnomADv4_1_AF_joint_XY=0.161159;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74448;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2081;gnomADv4_1_nhomalt_joint_XX=1084;gnomADv4_1_nhomalt_joint_XY=997;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29993411 chr22_29993411_G_T G T 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.301;CADD_Rawscore=-0.321382;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||6/18|ENST00000323630.9:c.52+1741G>T|||||||rs5763680||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29993411G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||7/19|ENST00000333027.7:c.460+1741G>T|||||||rs5763680||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29993411G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||7/18|ENST00000351488.7:c.460+1741G>T|||||||rs5763680||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29993411G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||7/19|ENST00000401950.7:c.460+1741G>T|||||||rs5763680||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29993411G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||5/17|ENST00000406629.1:c.460+1741G>T|||||||rs5763680||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29993411G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||||||||||rs5763680|1742|1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29993411G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||||||||||rs5763680|1783|1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29993411G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||7/19|NM_021090.4:c.460+1741G>T|||||||rs5763680||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29993411G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||7/19|NM_153050.3:c.460+1741G>T|||||||rs5763680||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29993411G>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||7/18|NM_153051.3:c.460+1741G>T|||||||rs5763680||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29993411G>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|24|12|24|-42;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111539;gnomADv4_1_AC_joint_XX=57097;gnomADv4_1_AC_joint_XY=54442;gnomADv4_1_AF_grpmax_joint=0.912741;gnomADv4_1_AF_joint=0.733848;gnomADv4_1_AF_joint_XX=0.734782;gnomADv4_1_AF_joint_XY=0.73287;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41080;gnomADv4_1_nhomalt_joint_XX=21083;gnomADv4_1_nhomalt_joint_XY=19997;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29994392 chr22_29994392_CAA_C;chr22_29994392_CA_C CAA C 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.182;CADDIndel_Rawscore=-0.45188;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||6/18|ENST00000323630.9:c.52+2740_52+2741del|||||||rs56016589||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||AA|AA|||17|chr22:g.29994410_29994411del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||7/19|ENST00000333027.7:c.460+2740_460+2741del|||||||rs56016589||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||AA|AA|||17|chr22:g.29994410_29994411del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||7/18|ENST00000351488.7:c.460+2740_460+2741del|||||||rs56016589||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||AA|AA|||17|chr22:g.29994410_29994411del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||7/19|ENST00000401950.7:c.460+2740_460+2741del|||||||rs56016589||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||AA|AA|||17|chr22:g.29994410_29994411del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||5/17|ENST00000406629.1:c.460+2740_460+2741del|||||||rs56016589||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||AA|AA|||17|chr22:g.29994410_29994411del|||||||||||||,-|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||||||||||rs56016589|2724|1||HGNC|HGNC:7451|3||||||||Ensembl||AA|AA||||chr22:g.29994410_29994411del|||||||||||||,-|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||||||||||rs56016589|2765|1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||AA|AA||||chr22:g.29994410_29994411del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||7/19|NM_021090.4:c.460+2740_460+2741del|||||||rs56016589||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||AA|AA|||17|chr22:g.29994410_29994411del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||7/19|NM_153050.3:c.460+2740_460+2741del|||||||rs56016589||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||AA|AA|||17|chr22:g.29994410_29994411del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||7/18|NM_153051.3:c.460+2740_460+2741del|||||||rs56016589||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||AA|AA|||17|chr22:g.29994410_29994411del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4ZCQ|enhancer||||||||||rs56016589|||||||||||||||||||||chr22:g.29994410_29994411del|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|0|12|-43|-38;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3,ENSR22_C4ZCQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897,.;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25343;gnomADv4_1_AC_joint_XX=13342;gnomADv4_1_AC_joint_XY=12001;gnomADv4_1_AF_grpmax_joint=0.314816;gnomADv4_1_AF_joint=0.220581;gnomADv4_1_AF_joint_XX=0.219354;gnomADv4_1_AF_joint_XY=0.221961;gnomADv4_1_AN_grpmax_joint=31898;gnomADv4_1_AN_joint=114892;gnomADv4_1_AN_joint_XX=60824;gnomADv4_1_AN_joint_XY=54068;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2464;gnomADv4_1_nhomalt_joint_XX=1328;gnomADv4_1_nhomalt_joint_XY=1136;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29994392 chr22_29994392_CAA_C;chr22_29994392_CA_C CA C 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADDIndel_PHREDscore=0.131;CADDIndel_Rawscore=-0.538377;CSQ=-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||6/18|ENST00000323630.9:c.52+2741del|||||||rs56016589||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A|||18|chr22:g.29994411del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||7/19|ENST00000333027.7:c.460+2741del|||||||rs56016589||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A|||18|chr22:g.29994411del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||7/18|ENST00000351488.7:c.460+2741del|||||||rs56016589||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A|||18|chr22:g.29994411del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||7/19|ENST00000401950.7:c.460+2741del|||||||rs56016589||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A|||18|chr22:g.29994411del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||5/17|ENST00000406629.1:c.460+2741del|||||||rs56016589||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A|||18|chr22:g.29994411del|||||||||||||,-|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||||||||||rs56016589|2724|1||HGNC|HGNC:7451|3||||||||Ensembl||A|A||||chr22:g.29994411del|||||||||||||,-|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||||||||||rs56016589|2765|1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||A|A||||chr22:g.29994411del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||7/19|NM_021090.4:c.460+2741del|||||||rs56016589||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A|||18|chr22:g.29994411del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||7/19|NM_153050.3:c.460+2741del|||||||rs56016589||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A|||18|chr22:g.29994411del|||||||||||||,-|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||7/18|NM_153051.3:c.460+2741del|||||||rs56016589||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A|||18|chr22:g.29994411del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4ZCQ|enhancer||||||||||rs56016589|||||||||||||||||||||chr22:g.29994411del|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-36|12|-43|-38;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3,ENSR22_C4ZCQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897,.;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39706;gnomADv4_1_AC_joint_XX=21192;gnomADv4_1_AC_joint_XY=18514;gnomADv4_1_AF_grpmax_joint=0.618879;gnomADv4_1_AF_joint=0.346215;gnomADv4_1_AF_joint_XX=0.349012;gnomADv4_1_AF_joint_XY=0.343068;gnomADv4_1_AN_grpmax_joint=3676;gnomADv4_1_AN_joint=114686;gnomADv4_1_AN_joint_XX=60720;gnomADv4_1_AN_joint_XY=53966;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5550;gnomADv4_1_nhomalt_joint_XX=3012;gnomADv4_1_nhomalt_joint_XY=2538;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29995001 chr22_29995001_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=3.165;CADD_Rawscore=0.290089;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||6/18|ENST00000323630.9:c.52+3331T>C|||||||rs3788423||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29995001T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||7/19|ENST00000333027.7:c.460+3331T>C|||||||rs3788423||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29995001T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||7/18|ENST00000351488.7:c.460+3331T>C|||||||rs3788423||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29995001T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||7/19|ENST00000401950.7:c.460+3331T>C|||||||rs3788423||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29995001T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||5/17|ENST00000406629.1:c.460+3331T>C|||||||rs3788423||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29995001T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||||||||||rs3788423|3332|1||HGNC|HGNC:7451|3||||||||Ensembl||T|T||||chr22:g.29995001T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||||||||||rs3788423|3373|1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||T|T||||chr22:g.29995001T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||7/19|NM_021090.4:c.460+3331T>C|||||||rs3788423||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29995001T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||7/19|NM_153050.3:c.460+3331T>C|||||||rs3788423||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29995001T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||7/18|NM_153051.3:c.460+3331T>C|||||||rs3788423||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29995001T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4ZCQ|enhancer||||||||||rs3788423|||||||||||||||||||||chr22:g.29995001T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|10|29|10|-29;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3,ENSR22_C4ZCQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897,.;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119180;gnomADv4_1_AC_joint_XX=61138;gnomADv4_1_AC_joint_XY=58042;gnomADv4_1_AF_grpmax_joint=0.912674;gnomADv4_1_AF_joint=0.782853;gnomADv4_1_AF_joint_XX=0.785835;gnomADv4_1_AF_joint_XY=0.779736;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152238;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=47092;gnomADv4_1_nhomalt_joint_XX=24293;gnomADv4_1_nhomalt_joint_XY=22799;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29995292 chr22_29995292_G_A G A 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.079;CADD_Rawscore=-0.676813;CSQ=A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||6/18|ENST00000323630.9:c.53-3469G>A|||||||rs2412963||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||G|G||||chr22:g.29995292G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||7/19|ENST00000333027.7:c.461-3469G>A|||||||rs2412963||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29995292G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||7/18|ENST00000351488.7:c.461-3469G>A|||||||rs2412963||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||G|G||||chr22:g.29995292G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||7/19|ENST00000401950.7:c.461-3469G>A|||||||rs2412963||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||G|G||||chr22:g.29995292G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||5/17|ENST00000406629.1:c.461-3469G>A|||||||rs2412963||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||G|G||||chr22:g.29995292G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000415511|protein_coding_CDS_not_defined||||||||||rs2412963|3623|1||HGNC|HGNC:7451|3||||||||Ensembl||G|G||||chr22:g.29995292G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000445401|protein_coding||||||||||rs2412963|3664|1|cds_end_NF|HGNC|HGNC:7451|3||ENSP00000409063||C9JLU3.74|UPI000173A31A|||Ensembl||G|G||||chr22:g.29995292G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||7/19|NM_021090.4:c.461-3469G>A|||||||rs2412963||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||G|G||||chr22:g.29995292G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||7/19|NM_153050.3:c.461-3469G>A|||||||rs2412963||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||G|G||||chr22:g.29995292G>A|||||||||||||,A|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||7/18|NM_153051.3:c.461-3469G>A|||||||rs2412963||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||G|G||||chr22:g.29995292G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR22_C4ZCQ|enhancer||||||||||rs2412963|||||||||||||||||||||chr22:g.29995292G>A|||||||||||||;SpliceAI=A|MTMR3|0.00|0.00|0.00|0.00|2|20|-14|21;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000415511,ENST00000445401,NM_021090.4,NM_153050.3,NM_153051.3,ENSR22_C4ZCQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897,.;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=112260;gnomADv4_1_AC_joint_XX=57467;gnomADv4_1_AC_joint_XY=54793;gnomADv4_1_AF_grpmax_joint=0.912901;gnomADv4_1_AF_joint=0.738096;gnomADv4_1_AF_joint_XX=0.738916;gnomADv4_1_AF_joint_XY=0.737238;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152094;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41561;gnomADv4_1_nhomalt_joint_XX=21337;gnomADv4_1_nhomalt_joint_XY=20224;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29997514 chr22_29997514_C_G C G 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=4.493;CADD_Rawscore=0.409253;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||6/18|ENST00000323630.9:c.53-1247C>G|||||||rs5763688||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29997514C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||7/19|ENST00000333027.7:c.461-1247C>G|||||||rs5763688||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29997514C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||7/18|ENST00000351488.7:c.461-1247C>G|||||||rs5763688||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29997514C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||7/19|ENST00000401950.7:c.461-1247C>G|||||||rs5763688||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29997514C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||5/17|ENST00000406629.1:c.461-1247C>G|||||||rs5763688||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29997514C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||7/19|NM_021090.4:c.461-1247C>G|||||||rs5763688||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29997514C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||7/19|NM_153050.3:c.461-1247C>G|||||||rs5763688||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29997514C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||7/18|NM_153051.3:c.461-1247C>G|||||||rs5763688||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29997514C>G|||1||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-15|41|35|-10;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54016;gnomADv4_1_AC_joint_XX=27651;gnomADv4_1_AC_joint_XY=26365;gnomADv4_1_AF_grpmax_joint=0.716602;gnomADv4_1_AF_joint=0.355139;gnomADv4_1_AF_joint_XX=0.355676;gnomADv4_1_AF_joint_XY=0.354578;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152098;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10540;gnomADv4_1_nhomalt_joint_XX=5441;gnomADv4_1_nhomalt_joint_XY=5099;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29997555 chr22_29997555_C_G C G 56 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.403;CADD_Rawscore=0.212939;CSQ=G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||6/18|ENST00000323630.9:c.53-1206C>G|||||||rs7285751||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29997555C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||7/19|ENST00000333027.7:c.461-1206C>G|||||||rs7285751||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29997555C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||7/18|ENST00000351488.7:c.461-1206C>G|||||||rs7285751||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29997555C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||7/19|ENST00000401950.7:c.461-1206C>G|||||||rs7285751||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29997555C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||5/17|ENST00000406629.1:c.461-1206C>G|||||||rs7285751||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29997555C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||7/19|NM_021090.4:c.461-1206C>G|||||||rs7285751||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29997555C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||7/19|NM_153050.3:c.461-1206C>G|||||||rs7285751||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29997555C>G|||1||||||||||,G|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||7/18|NM_153051.3:c.461-1206C>G|||||||rs7285751||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29997555C>G|||1||||||||||;SpliceAI=G|MTMR3|0.00|0.00|0.00|0.00|-1|32|-1|-6;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23278;gnomADv4_1_AC_joint_XX=11831;gnomADv4_1_AC_joint_XY=11447;gnomADv4_1_AF_grpmax_joint=0.243041;gnomADv4_1_AF_joint=0.152986;gnomADv4_1_AF_joint_XX=0.152105;gnomADv4_1_AF_joint_XY=0.153907;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152158;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74376;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1869;gnomADv4_1_nhomalt_joint_XX=969;gnomADv4_1_nhomalt_joint_XY=900;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29998634 chr22_29998634_T_C T C 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.963;CADD_Rawscore=-0.027603;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||6/18|ENST00000323630.9:c.53-127T>C|||||||rs5763689||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29998634T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||7/19|ENST00000333027.7:c.461-127T>C|||||||rs5763689||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29998634T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||7/18|ENST00000351488.7:c.461-127T>C|||||||rs5763689||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29998634T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||7/19|ENST00000401950.7:c.461-127T>C|||||||rs5763689||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29998634T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||5/17|ENST00000406629.1:c.461-127T>C|||||||rs5763689||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29998634T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||7/19|NM_021090.4:c.461-127T>C|||||||rs5763689||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29998634T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||7/19|NM_153050.3:c.461-127T>C|||||||rs5763689||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29998634T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||7/18|NM_153051.3:c.461-127T>C|||||||rs5763689||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29998634T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|4|-7|-50|35;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=351667;gnomADv4_1_AC_joint_XX=169613;gnomADv4_1_AC_joint_XY=182054;gnomADv4_1_AF_grpmax_joint=0.925288;gnomADv4_1_AF_joint=0.769771;gnomADv4_1_AF_joint_XX=0.771508;gnomADv4_1_AF_joint_XY=0.76816;gnomADv4_1_AN_grpmax_joint=23932;gnomADv4_1_AN_joint=456846;gnomADv4_1_AN_joint_XX=219846;gnomADv4_1_AN_joint_XY=237000;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=136904;gnomADv4_1_nhomalt_joint_XX=66209;gnomADv4_1_nhomalt_joint_XY=70695;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chr22 29998742 chr22_29998742_G_GT G GT 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=6.391;CADDIndel_Rawscore=0.593346;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||6/18|ENST00000323630.9:c.53-16dup|||||||rs151302635||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||||||3|chr22:g.29998745dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||7/19|ENST00000333027.7:c.461-16dup|||||||rs151302635||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||3|chr22:g.29998745dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||7/18|ENST00000351488.7:c.461-16dup|||||||rs151302635||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||||||3|chr22:g.29998745dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||7/19|ENST00000401950.7:c.461-16dup|||||||rs151302635||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||||||3|chr22:g.29998745dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||5/17|ENST00000406629.1:c.461-16dup|||||||rs151302635||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||||||3|chr22:g.29998745dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||7/19|NM_021090.4:c.461-16dup|||||||rs151302635||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||||||3|chr22:g.29998745dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||7/19|NM_153050.3:c.461-16dup|||||||rs151302635||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||||||3|chr22:g.29998745dup|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||7/18|NM_153051.3:c.461-16dup|||||||rs151302635||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||||||3|chr22:g.29998745dup|||||||||||||;SpliceAI=GT|MTMR3|0.00|0.00|0.00|0.00|12|19|19|37;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=257312;gnomADv4_1_AC_joint_XX=128161;gnomADv4_1_AC_joint_XY=129151;gnomADv4_1_AF_grpmax_joint=0.231497;gnomADv4_1_AF_joint=0.16137;gnomADv4_1_AF_joint_XX=0.159681;gnomADv4_1_AF_joint_XY=0.163083;gnomADv4_1_AN_grpmax_joint=88092;gnomADv4_1_AN_joint=1594544;gnomADv4_1_AN_joint_XX=802608;gnomADv4_1_AN_joint_XY=791936;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=21758;gnomADv4_1_nhomalt_joint_XX=10654;gnomADv4_1_nhomalt_joint_XY=11104;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chr22 29999237 chr22_29999237_A_C A C 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=13.02;CADD_Rawscore=1.31582;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||7/18|ENST00000323630.9:c.149+380A>C|||||||rs9608832||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||A|A||||chr22:g.29999237A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||8/19|ENST00000333027.7:c.557+380A>C|||||||rs9608832||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29999237A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||8/18|ENST00000351488.7:c.557+380A>C|||||||rs9608832||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||A|A||||chr22:g.29999237A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||8/19|ENST00000401950.7:c.557+380A>C|||||||rs9608832||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||A|A||||chr22:g.29999237A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||6/17|ENST00000406629.1:c.557+380A>C|||||||rs9608832||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||A|A||||chr22:g.29999237A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000487907|protein_coding_CDS_not_defined||||||||||rs9608832|4658|1||HGNC|HGNC:7451|2||||||||Ensembl||A|A||||chr22:g.29999237A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||8/19|NM_021090.4:c.557+380A>C|||||||rs9608832||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||A|A||||chr22:g.29999237A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||8/19|NM_153050.3:c.557+380A>C|||||||rs9608832||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||A|A||||chr22:g.29999237A>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||8/18|NM_153051.3:c.557+380A>C|||||||rs9608832||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||A|A||||chr22:g.29999237A>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-16|32|31|-6;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000487907,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8933;gnomADv4_1_AC_joint_XX=4430;gnomADv4_1_AC_joint_XY=4503;gnomADv4_1_AF_grpmax_joint=0.0889482;gnomADv4_1_AF_joint=0.0582091;gnomADv4_1_AF_joint_XX=0.0565397;gnomADv4_1_AF_joint_XY=0.0599505;gnomADv4_1_AN_grpmax_joint=4868;gnomADv4_1_AN_joint=153464;gnomADv4_1_AN_joint_XX=78352;gnomADv4_1_AN_joint_XY=75112;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=376;gnomADv4_1_nhomalt_joint_XX=187;gnomADv4_1_nhomalt_joint_XY=189;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29999845 chr22_29999845_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=2.563;CADD_Rawscore=0.230439;CSQ=T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||7/18|ENST00000323630.9:c.149+988C>T|||||||rs1807508||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||C|C||||chr22:g.29999845C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||8/19|ENST00000333027.7:c.557+988C>T|||||||rs1807508||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29999845C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||8/18|ENST00000351488.7:c.557+988C>T|||||||rs1807508||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||C|C||||chr22:g.29999845C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||8/19|ENST00000401950.7:c.557+988C>T|||||||rs1807508||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||C|C||||chr22:g.29999845C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||6/17|ENST00000406629.1:c.557+988C>T|||||||rs1807508||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||C|C||||chr22:g.29999845C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000487907|protein_coding_CDS_not_defined||||||||||rs1807508|4050|1||HGNC|HGNC:7451|2||||||||Ensembl||C|C||||chr22:g.29999845C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||8/19|NM_021090.4:c.557+988C>T|||||||rs1807508||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||C|C||||chr22:g.29999845C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||8/19|NM_153050.3:c.557+988C>T|||||||rs1807508||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||C|C||||chr22:g.29999845C>T|||||||||||||,T|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||8/18|NM_153051.3:c.557+988C>T|||||||rs1807508||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||C|C||||chr22:g.29999845C>T|||||||||||||;SpliceAI=T|MTMR3|0.00|0.00|0.00|0.00|-5|30|-47|8;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000487907,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53399;gnomADv4_1_AC_joint_XX=27320;gnomADv4_1_AC_joint_XY=26079;gnomADv4_1_AF_grpmax_joint=0.71534;gnomADv4_1_AF_joint=0.351226;gnomADv4_1_AF_joint_XX=0.351545;gnomADv4_1_AF_joint_XY=0.350892;gnomADv4_1_AN_grpmax_joint=5150;gnomADv4_1_AN_joint=152036;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10371;gnomADv4_1_nhomalt_joint_XX=5358;gnomADv4_1_nhomalt_joint_XY=5013;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chr22 29999884 chr22_29999884_T_C T C 60 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=0.305;CADD_Rawscore=-0.317934;CSQ=C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000323630|protein_coding||7/18|ENST00000323630.9:c.149+1027T>C|||||||rs1807509||1||HGNC|HGNC:7451|5||ENSP00000318070||G5E953.97|UPI0000EE5C0B|||Ensembl||T|T||||chr22:g.29999884T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000333027|protein_coding||8/19|ENST00000333027.7:c.557+1027T>C|||||||rs1807509||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000331649|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29999884T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000351488|protein_coding||8/18|ENST00000351488.7:c.557+1027T>C|||||||rs1807509||1||HGNC|HGNC:7451|1|CCDS46682.1|ENSP00000307271|Q13615.205||UPI000006EF30|Q13615-3||Ensembl||T|T||||chr22:g.29999884T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000401950|protein_coding||8/19|ENST00000401950.7:c.557+1027T>C|||||||rs1807509||1||HGNC|HGNC:7451|1|CCDS13870.1|ENSP00000384651|Q13615.205||UPI0000073EF2|Q13615-1||Ensembl||T|T||||chr22:g.29999884T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000406629|protein_coding||6/17|ENST00000406629.1:c.557+1027T>C|||||||rs1807509||1||HGNC|HGNC:7451|5|CCDS13871.1|ENSP00000384077|Q13615.205||UPI0000072406|Q13615-2||Ensembl||T|T||||chr22:g.29999884T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|MTMR3|ENSG00000100330|Transcript|ENST00000487907|protein_coding_CDS_not_defined||||||||||rs1807509|4011|1||HGNC|HGNC:7451|2||||||||Ensembl||T|T||||chr22:g.29999884T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_021090.4|protein_coding||8/19|NM_021090.4:c.557+1027T>C|||||||rs1807509||1||EntrezGene|HGNC:7451|||NP_066576.1||||||RefSeq||T|T||||chr22:g.29999884T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153050.3|protein_coding||8/19|NM_153050.3:c.557+1027T>C|||||||rs1807509||1||EntrezGene|HGNC:7451|||NP_694690.1||||||RefSeq||T|T||||chr22:g.29999884T>C|||||||||||||,C|intron_variant|MODIFIER|MTMR3|8897|Transcript|NM_153051.3|protein_coding||8/18|NM_153051.3:c.557+1027T>C|||||||rs1807509||1||EntrezGene|HGNC:7451|||NP_694691.1||||||RefSeq||T|T||||chr22:g.29999884T>C|||||||||||||;SpliceAI=C|MTMR3|0.00|0.00|0.00|0.00|-17|9|31|-31;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000323630,ENST00000333027,ENST00000351488,ENST00000401950,ENST00000406629,ENST00000487907,NM_021090.4,NM_153050.3,NM_153051.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,ENSG00000100330,8897,8897,8897;VEP_SYMBOL=MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3,MTMR3;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=120493;gnomADv4_1_AC_joint_XX=61821;gnomADv4_1_AC_joint_XY=58672;gnomADv4_1_AF_grpmax_joint=0.922719;gnomADv4_1_AF_joint=0.792999;gnomADv4_1_AF_joint_XX=0.795924;gnomADv4_1_AF_joint_XY=0.78994;gnomADv4_1_AN_grpmax_joint=41472;gnomADv4_1_AN_joint=151946;gnomADv4_1_AN_joint_XX=77672;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=48352;gnomADv4_1_nhomalt_joint_XX=24942;gnomADv4_1_nhomalt_joint_XY=23410;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2701436 chrX_2701436_T_C T C 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=8.677;CADD_Rawscore=0.840936;CSQ=C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.67+10009T>C|||||||rs311042||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2701436T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.67+10009T>C|||||||rs311042||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2701436T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.67+10009T>C|||||||rs311042||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2701436T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.196+9741T>C|||||||rs311042||1||HGNC|HGNC:7082|5||||||||Ensembl||T|T||||chrX:g.2701436T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.67+10009T>C|||||||rs311042||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2701436T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.67+10009T>C|||||||rs311042||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2701436T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.67+10009T>C|||||||rs311042||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2701436T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.67+10009T>C|||||||rs311042||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2701436T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.133+10009T>C|||||||rs311042||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2701436T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.102+10009T>C|||||||rs311042||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2701436T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.136+10009T>C|||||||rs311042||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2701436T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.67+10009T>C|||||||rs311042||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2701436T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.67+10009T>C|||||||rs311042||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2701436T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.67+10009T>C|||||||rs311042||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2701436T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.67+10009T>C|||||||rs311042||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2701436T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.67+10009T>C|||||||rs311042||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2701436T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.67+10009T>C|||||||rs311042||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2701436T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.133+10009T>C|||||||rs311042||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2701436T>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|-38|13|-38|-5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=85373;gnomADv4_1_AC_joint_XX=43179;gnomADv4_1_AC_joint_XY=42194;gnomADv4_1_AF_grpmax_joint=0.609402;gnomADv4_1_AF_joint=0.561465;gnomADv4_1_AF_joint_XX=0.555214;gnomADv4_1_AF_joint_XY=0.568009;gnomADv4_1_AN_grpmax_joint=41480;gnomADv4_1_AN_joint=152054;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=24195;gnomADv4_1_nhomalt_joint_XX=12131;gnomADv4_1_nhomalt_joint_XY=12064;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2701585 chrX_2701585_GCCTC_G GCCTC G 26 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=26;CADDIndel_PHREDscore=0.865;CADDIndel_Rawscore=-0.055228;CSQ=-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.67+10159_67+10162del|||||||rs67856305||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.67+10159_67+10162del|||||||rs67856305||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.67+10159_67+10162del|||||||rs67856305||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.196+9891_196+9894del|||||||rs67856305||1||HGNC|HGNC:7082|5||||||||Ensembl||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.67+10159_67+10162del|||||||rs67856305||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.67+10159_67+10162del|||||||rs67856305||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.67+10159_67+10162del|||||||rs67856305||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.67+10159_67+10162del|||||||rs67856305||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.133+10159_133+10162del|||||||rs67856305||1||HGNC|HGNC:7082|||||||||Ensembl||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.102+10159_102+10162del|||||||rs67856305||1||HGNC|HGNC:7082|||||||||Ensembl||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.136+10159_136+10162del|||||||rs67856305||1||HGNC|HGNC:7082|||||||||Ensembl||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.67+10159_67+10162del|||||||rs67856305||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.67+10159_67+10162del|||||||rs67856305||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.67+10159_67+10162del|||||||rs67856305||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.67+10159_67+10162del|||||||rs67856305||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.67+10159_67+10162del|||||||rs67856305||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.67+10159_67+10162del|||||||rs67856305||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.133+10159_133+10162del|||||||rs67856305||1||EntrezGene|HGNC:7082|||||||||RefSeq||CCTC|CCTC||||chrX:g.2701586_2701589del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_BJGT|enhancer||||||||||rs67856305|||||||||||||||||||||chrX:g.2701586_2701589del|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-18|48|-17|26;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_BJGT;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88226;gnomADv4_1_AC_joint_XX=44823;gnomADv4_1_AC_joint_XY=43403;gnomADv4_1_AF_grpmax_joint=0.676787;gnomADv4_1_AF_joint=0.582565;gnomADv4_1_AF_joint_XX=0.578481;gnomADv4_1_AF_joint_XY=0.586844;gnomADv4_1_AN_grpmax_joint=41270;gnomADv4_1_AN_joint=151444;gnomADv4_1_AN_joint_XX=77484;gnomADv4_1_AN_joint_XY=73960;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26022;gnomADv4_1_nhomalt_joint_XX=13170;gnomADv4_1_nhomalt_joint_XY=12852;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2701590 chrX_2701590_T_TG T TG 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=1.496;CADDIndel_Rawscore=0.087342;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.67+10163_67+10164insG|||||||rs376308063||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl|||||||chrX:g.2701590_2701591insG|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.67+10163_67+10164insG|||||||rs376308063||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl|||||||chrX:g.2701590_2701591insG|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.67+10163_67+10164insG|||||||rs376308063||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl|||||||chrX:g.2701590_2701591insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.196+9895_196+9896insG|||||||rs376308063||1||HGNC|HGNC:7082|5||||||||Ensembl|||||||chrX:g.2701590_2701591insG|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.67+10163_67+10164insG|||||||rs376308063||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2701590_2701591insG|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.67+10163_67+10164insG|||||||rs376308063||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2701590_2701591insG|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.67+10163_67+10164insG|||||||rs376308063||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2701590_2701591insG|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.67+10163_67+10164insG|||||||rs376308063||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl|||||||chrX:g.2701590_2701591insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.133+10163_133+10164insG|||||||rs376308063||1||HGNC|HGNC:7082|||||||||Ensembl|||||||chrX:g.2701590_2701591insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.102+10163_102+10164insG|||||||rs376308063||1||HGNC|HGNC:7082|||||||||Ensembl|||||||chrX:g.2701590_2701591insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.136+10163_136+10164insG|||||||rs376308063||1||HGNC|HGNC:7082|||||||||Ensembl|||||||chrX:g.2701590_2701591insG|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.67+10163_67+10164insG|||||||rs376308063||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq|||||||chrX:g.2701590_2701591insG|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.67+10163_67+10164insG|||||||rs376308063||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq|||||||chrX:g.2701590_2701591insG|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.67+10163_67+10164insG|||||||rs376308063||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq|||||||chrX:g.2701590_2701591insG|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.67+10163_67+10164insG|||||||rs376308063||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq|||||||chrX:g.2701590_2701591insG|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.67+10163_67+10164insG|||||||rs376308063||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq|||||||chrX:g.2701590_2701591insG|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.67+10163_67+10164insG|||||||rs376308063||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq|||||||chrX:g.2701590_2701591insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.133+10163_133+10164insG|||||||rs376308063||1||EntrezGene|HGNC:7082|||||||||RefSeq|||||||chrX:g.2701590_2701591insG|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_BJGT|enhancer||||||||||rs376308063|||||||||||||||||||||chrX:g.2701590_2701591insG|||||||||||||;SpliceAI=TG|CD99|0.00|0.00|0.00|0.00|20|43|-24|21;TYPE=INDEL;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_BJGT;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88236;gnomADv4_1_AC_joint_XX=44831;gnomADv4_1_AC_joint_XY=43405;gnomADv4_1_AF_grpmax_joint=0.676636;gnomADv4_1_AF_joint=0.5825;gnomADv4_1_AF_joint_XX=0.578494;gnomADv4_1_AF_joint_XY=0.586697;gnomADv4_1_AN_grpmax_joint=41294;gnomADv4_1_AN_joint=151478;gnomADv4_1_AN_joint_XX=77496;gnomADv4_1_AN_joint_XY=73982;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26023;gnomADv4_1_nhomalt_joint_XX=13172;gnomADv4_1_nhomalt_joint_XY=12851;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2701613 chrX_2701613_T_G T G 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=5.271;CADD_Rawscore=0.481489;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.67+10186T>G|||||||rs311043||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2701613T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.67+10186T>G|||||||rs311043||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2701613T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.67+10186T>G|||||||rs311043||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2701613T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.196+9918T>G|||||||rs311043||1||HGNC|HGNC:7082|5||||||||Ensembl||T|T||||chrX:g.2701613T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.67+10186T>G|||||||rs311043||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2701613T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.67+10186T>G|||||||rs311043||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2701613T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.67+10186T>G|||||||rs311043||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2701613T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.67+10186T>G|||||||rs311043||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2701613T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.133+10186T>G|||||||rs311043||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2701613T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.102+10186T>G|||||||rs311043||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2701613T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.136+10186T>G|||||||rs311043||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2701613T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.67+10186T>G|||||||rs311043||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2701613T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.67+10186T>G|||||||rs311043||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2701613T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.67+10186T>G|||||||rs311043||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2701613T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.67+10186T>G|||||||rs311043||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2701613T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.67+10186T>G|||||||rs311043||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2701613T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.67+10186T>G|||||||rs311043||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2701613T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.133+10186T>G|||||||rs311043||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2701613T>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_BJGT|enhancer||||||||||rs311043|||||||||||||||||||||chrX:g.2701613T>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-16|20|-45|-2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_BJGT;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70028;gnomADv4_1_AC_joint_XX=34877;gnomADv4_1_AC_joint_XY=35151;gnomADv4_1_AF_grpmax_joint=0.519636;gnomADv4_1_AF_joint=0.460795;gnomADv4_1_AF_joint_XX=0.448752;gnomADv4_1_AF_joint_XY=0.473401;gnomADv4_1_AN_grpmax_joint=15278;gnomADv4_1_AN_joint=151972;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74252;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=16658;gnomADv4_1_nhomalt_joint_XX=8151;gnomADv4_1_nhomalt_joint_XY=8507;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2703079 chrX_2703079_A_G A G 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=29;CADD_PHREDscore=0.182;CADD_Rawscore=-0.451945;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-11343A>G|||||||rs311044||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2703079A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-11343A>G|||||||rs311044||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2703079A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-11343A>G|||||||rs311044||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2703079A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-11343A>G|||||||rs311044||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2703079A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-11343A>G|||||||rs311044||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2703079A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-11343A>G|||||||rs311044||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2703079A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-11343A>G|||||||rs311044||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2703079A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-11343A>G|||||||rs311044||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2703079A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-11343A>G|||||||rs311044||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2703079A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-11343A>G|||||||rs311044||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2703079A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-11343A>G|||||||rs311044||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2703079A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-11343A>G|||||||rs311044||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2703079A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-11343A>G|||||||rs311044||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2703079A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-11343A>G|||||||rs311044||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2703079A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-11343A>G|||||||rs311044||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2703079A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-11343A>G|||||||rs311044||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2703079A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-11343A>G|||||||rs311044||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2703079A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-11343A>G|||||||rs311044||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2703079A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-12|2|47|-11;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=92462;gnomADv4_1_AC_joint_XX=46990;gnomADv4_1_AC_joint_XY=45472;gnomADv4_1_AF_grpmax_joint=0.721102;gnomADv4_1_AF_joint=0.608375;gnomADv4_1_AF_joint_XX=0.604684;gnomADv4_1_AF_joint_XY=0.612236;gnomADv4_1_AN_grpmax_joint=41456;gnomADv4_1_AN_joint=151982;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74272;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=28616;gnomADv4_1_nhomalt_joint_XX=14484;gnomADv4_1_nhomalt_joint_XY=14132;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2703417 chrX_2703417_G_A G A 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.258;CADD_Rawscore=-0.360797;CSQ=A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-11005G>A|||||||rs311045||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2703417G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-11005G>A|||||||rs311045||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2703417G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-11005G>A|||||||rs311045||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2703417G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-11005G>A|||||||rs311045||1||HGNC|HGNC:7082|5||||||||Ensembl||G|G||||chrX:g.2703417G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-11005G>A|||||||rs311045||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2703417G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-11005G>A|||||||rs311045||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2703417G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-11005G>A|||||||rs311045||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2703417G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-11005G>A|||||||rs311045||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2703417G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-11005G>A|||||||rs311045||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2703417G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-11005G>A|||||||rs311045||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2703417G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-11005G>A|||||||rs311045||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2703417G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-11005G>A|||||||rs311045||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2703417G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-11005G>A|||||||rs311045||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2703417G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-11005G>A|||||||rs311045||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2703417G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-11005G>A|||||||rs311045||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2703417G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-11005G>A|||||||rs311045||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2703417G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-11005G>A|||||||rs311045||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2703417G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-11005G>A|||||||rs311045||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2703417G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C98K|enhancer||||||||||rs311045|||||||||||||||||||||chrX:g.2703417G>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|17|-29|-29|42;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_C98K;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82733;gnomADv4_1_AC_joint_XX=41848;gnomADv4_1_AC_joint_XY=40885;gnomADv4_1_AF_grpmax_joint=0.588242;gnomADv4_1_AF_joint=0.544984;gnomADv4_1_AF_joint_XX=0.538806;gnomADv4_1_AF_joint_XY=0.551457;gnomADv4_1_AN_grpmax_joint=41386;gnomADv4_1_AN_joint=151808;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74140;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22708;gnomADv4_1_nhomalt_joint_XX=11336;gnomADv4_1_nhomalt_joint_XY=11372;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2703605 chrX_2703605_AGTGT_A;chrX_2703605_A_AGTGTGT AGTGT A 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=32;CADDIndel_PHREDscore=0.682;CADDIndel_Rawscore=-0.115555;CSQ=-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-10774_68-10771del|||||||rs556444956||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-10774_68-10771del|||||||rs556444956||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-10774_68-10771del|||||||rs556444956||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-10774_197-10771del|||||||rs556444956||1||HGNC|HGNC:7082|5||||||||Ensembl||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-10774_68-10771del|||||||rs556444956||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-10774_68-10771del|||||||rs556444956||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-10774_68-10771del|||||||rs556444956||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-10774_68-10771del|||||||rs556444956||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-10774_134-10771del|||||||rs556444956||1||HGNC|HGNC:7082|||||||||Ensembl||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-10774_103-10771del|||||||rs556444956||1||HGNC|HGNC:7082|||||||||Ensembl||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-10774_137-10771del|||||||rs556444956||1||HGNC|HGNC:7082|||||||||Ensembl||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-10774_68-10771del|||||||rs556444956||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-10774_68-10771del|||||||rs556444956||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-10774_68-10771del|||||||rs556444956||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-10774_68-10771del|||||||rs556444956||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-10774_68-10771del|||||||rs556444956||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-10774_68-10771del|||||||rs556444956||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-10774_134-10771del|||||||rs556444956||1||EntrezGene|HGNC:7082|||||||||RefSeq||GTGT|GTGT|||42|chrX:g.2703648_2703651del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C98K|enhancer||||||||||rs556444956|||||||||||||||||||||chrX:g.2703648_2703651del|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|6|2|-24|2;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_C98K;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11686;gnomADv4_1_AC_joint_XX=6085;gnomADv4_1_AC_joint_XY=5601;gnomADv4_1_AF_grpmax_joint=0.153136;gnomADv4_1_AF_joint=0.0844999;gnomADv4_1_AF_joint_XX=0.0846644;gnomADv4_1_AF_joint_XY=0.0843219;gnomADv4_1_AN_grpmax_joint=4656;gnomADv4_1_AN_joint=138296;gnomADv4_1_AN_joint_XX=71872;gnomADv4_1_AN_joint_XY=66424;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=528;gnomADv4_1_nhomalt_joint_XX=308;gnomADv4_1_nhomalt_joint_XY=220;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2703605 chrX_2703605_AGTGT_A;chrX_2703605_A_AGTGTGT A AGTGTGT 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=27;CADDIndel_PHREDscore=0.24;CADDIndel_Rawscore=-0.379803;CSQ=GTGTGT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-10776_68-10771dup|||||||rs556444956||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-10776_68-10771dup|||||||rs556444956||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-10776_68-10771dup|||||||rs556444956||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-10776_197-10771dup|||||||rs556444956||1||HGNC|HGNC:7082|5||||||||Ensembl||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-10776_68-10771dup|||||||rs556444956||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-10776_68-10771dup|||||||rs556444956||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-10776_68-10771dup|||||||rs556444956||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-10776_68-10771dup|||||||rs556444956||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-10776_134-10771dup|||||||rs556444956||1||HGNC|HGNC:7082|||||||||Ensembl||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-10776_103-10771dup|||||||rs556444956||1||HGNC|HGNC:7082|||||||||Ensembl||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-10776_137-10771dup|||||||rs556444956||1||HGNC|HGNC:7082|||||||||Ensembl||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-10776_68-10771dup|||||||rs556444956||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-10776_68-10771dup|||||||rs556444956||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-10776_68-10771dup|||||||rs556444956||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-10776_68-10771dup|||||||rs556444956||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-10776_68-10771dup|||||||rs556444956||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-10776_68-10771dup|||||||rs556444956||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-10776_134-10771dup|||||||rs556444956||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||46|chrX:g.2703646_2703651dup|||||||||||||,GTGTGT|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C98K|enhancer||||||||||rs556444956|||||||||||||||||||||chrX:g.2703646_2703651dup|||||||||||||;TYPE=INDEL;VEP_Allele=GTGTGT,GTGTGT,GTGTGT,GTGTGT,GTGTGT,GTGTGT,GTGTGT,GTGTGT,GTGTGT,GTGTGT,GTGTGT,GTGTGT,GTGTGT,GTGTGT,GTGTGT,GTGTGT,GTGTGT,GTGTGT,GTGTGT;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_C98K;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2426;gnomADv4_1_AC_joint_XX=1315;gnomADv4_1_AC_joint_XY=1111;gnomADv4_1_AF_grpmax_joint=0.0309872;gnomADv4_1_AF_joint=0.0175218;gnomADv4_1_AF_joint_XX=0.0182761;gnomADv4_1_AF_joint_XY=0.0167058;gnomADv4_1_AN_grpmax_joint=37338;gnomADv4_1_AN_joint=138456;gnomADv4_1_AN_joint_XX=71952;gnomADv4_1_AN_joint_XY=66504;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=39;gnomADv4_1_nhomalt_joint_XX=21;gnomADv4_1_nhomalt_joint_XY=18;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2704041 chrX_2704041_T_C T C 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.144;CADD_Rawscore=0.017141;CSQ=C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-10381T>C|||||||rs311046||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2704041T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-10381T>C|||||||rs311046||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2704041T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-10381T>C|||||||rs311046||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2704041T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-10381T>C|||||||rs311046||1||HGNC|HGNC:7082|5||||||||Ensembl||T|T||||chrX:g.2704041T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-10381T>C|||||||rs311046||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2704041T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-10381T>C|||||||rs311046||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2704041T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-10381T>C|||||||rs311046||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2704041T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-10381T>C|||||||rs311046||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2704041T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-10381T>C|||||||rs311046||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2704041T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-10381T>C|||||||rs311046||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2704041T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-10381T>C|||||||rs311046||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2704041T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-10381T>C|||||||rs311046||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2704041T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-10381T>C|||||||rs311046||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2704041T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-10381T>C|||||||rs311046||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2704041T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-10381T>C|||||||rs311046||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2704041T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-10381T>C|||||||rs311046||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2704041T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-10381T>C|||||||rs311046||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2704041T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-10381T>C|||||||rs311046||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2704041T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C98K|enhancer||||||||||rs311046|||||||||||||||||||||chrX:g.2704041T>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|-5|15|38|-23;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_C98K;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70031;gnomADv4_1_AC_joint_XX=34821;gnomADv4_1_AC_joint_XY=35210;gnomADv4_1_AF_grpmax_joint=0.53625;gnomADv4_1_AF_joint=0.461143;gnomADv4_1_AF_joint_XX=0.448274;gnomADv4_1_AF_joint_XY=0.474618;gnomADv4_1_AN_grpmax_joint=4800;gnomADv4_1_AN_joint=151864;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=74186;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=16861;gnomADv4_1_nhomalt_joint_XX=8236;gnomADv4_1_nhomalt_joint_XY=8625;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2704219 chrX_2704219_G_A G A 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.298;CADD_Rawscore=-0.323909;CSQ=A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-10203G>A|||||||rs311047||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2704219G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-10203G>A|||||||rs311047||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2704219G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-10203G>A|||||||rs311047||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2704219G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-10203G>A|||||||rs311047||1||HGNC|HGNC:7082|5||||||||Ensembl||G|G||||chrX:g.2704219G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-10203G>A|||||||rs311047||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2704219G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-10203G>A|||||||rs311047||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2704219G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-10203G>A|||||||rs311047||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2704219G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-10203G>A|||||||rs311047||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2704219G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-10203G>A|||||||rs311047||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2704219G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-10203G>A|||||||rs311047||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2704219G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-10203G>A|||||||rs311047||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2704219G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-10203G>A|||||||rs311047||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2704219G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-10203G>A|||||||rs311047||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2704219G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-10203G>A|||||||rs311047||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2704219G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-10203G>A|||||||rs311047||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2704219G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-10203G>A|||||||rs311047||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2704219G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-10203G>A|||||||rs311047||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2704219G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-10203G>A|||||||rs311047||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2704219G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C98K|enhancer||||||||||rs311047|||||||||||||||||||||chrX:g.2704219G>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|46|-10|-15|28;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_C98K;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=79412;gnomADv4_1_AC_joint_XX=39849;gnomADv4_1_AC_joint_XY=39563;gnomADv4_1_AF_grpmax_joint=0.602414;gnomADv4_1_AF_joint=0.523046;gnomADv4_1_AF_joint_XX=0.513201;gnomADv4_1_AF_joint_XY=0.533352;gnomADv4_1_AN_grpmax_joint=5136;gnomADv4_1_AN_joint=151826;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74178;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=20837;gnomADv4_1_nhomalt_joint_XX=10257;gnomADv4_1_nhomalt_joint_XY=10580;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2704606 chrX_2704606_C_T C T 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.7;CADD_Rawscore=-0.109088;CSQ=T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-9816C>T|||||||rs311048||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2704606C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-9816C>T|||||||rs311048||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2704606C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-9816C>T|||||||rs311048||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2704606C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-9816C>T|||||||rs311048||1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2704606C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-9816C>T|||||||rs311048||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2704606C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-9816C>T|||||||rs311048||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2704606C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-9816C>T|||||||rs311048||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2704606C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-9816C>T|||||||rs311048||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2704606C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-9816C>T|||||||rs311048||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2704606C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-9816C>T|||||||rs311048||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2704606C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-9816C>T|||||||rs311048||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2704606C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-9816C>T|||||||rs311048||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2704606C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-9816C>T|||||||rs311048||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2704606C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-9816C>T|||||||rs311048||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2704606C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-9816C>T|||||||rs311048||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2704606C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-9816C>T|||||||rs311048||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2704606C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-9816C>T|||||||rs311048||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2704606C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-9816C>T|||||||rs311048||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2704606C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|5|-30|-30|28;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91266;gnomADv4_1_AC_joint_XX=46424;gnomADv4_1_AC_joint_XY=44842;gnomADv4_1_AF_grpmax_joint=0.71922;gnomADv4_1_AF_joint=0.603507;gnomADv4_1_AF_joint_XX=0.599793;gnomADv4_1_AF_joint_XY=0.607401;gnomADv4_1_AN_grpmax_joint=41260;gnomADv4_1_AN_joint=151226;gnomADv4_1_AN_joint_XX=77400;gnomADv4_1_AN_joint_XY=73826;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=27968;gnomADv4_1_nhomalt_joint_XX=14171;gnomADv4_1_nhomalt_joint_XY=13797;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2704624 chrX_2704624_T_G T G 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.614;CADD_Rawscore=-0.141693;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-9798T>G|||||||rs311049||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2704624T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-9798T>G|||||||rs311049||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2704624T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-9798T>G|||||||rs311049||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2704624T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-9798T>G|||||||rs311049||1||HGNC|HGNC:7082|5||||||||Ensembl||T|T||||chrX:g.2704624T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-9798T>G|||||||rs311049||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2704624T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-9798T>G|||||||rs311049||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2704624T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-9798T>G|||||||rs311049||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2704624T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-9798T>G|||||||rs311049||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2704624T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-9798T>G|||||||rs311049||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2704624T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-9798T>G|||||||rs311049||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2704624T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-9798T>G|||||||rs311049||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2704624T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-9798T>G|||||||rs311049||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2704624T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-9798T>G|||||||rs311049||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2704624T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-9798T>G|||||||rs311049||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2704624T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-9798T>G|||||||rs311049||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2704624T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-9798T>G|||||||rs311049||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2704624T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-9798T>G|||||||rs311049||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2704624T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-9798T>G|||||||rs311049||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2704624T>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-47|-48|10|-48;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88487;gnomADv4_1_AC_joint_XX=44888;gnomADv4_1_AC_joint_XY=43599;gnomADv4_1_AF_grpmax_joint=0.648114;gnomADv4_1_AF_joint=0.584698;gnomADv4_1_AF_joint_XX=0.579649;gnomADv4_1_AF_joint_XY=0.589989;gnomADv4_1_AN_grpmax_joint=41306;gnomADv4_1_AN_joint=151338;gnomADv4_1_AN_joint_XX=77440;gnomADv4_1_AN_joint_XY=73898;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26020;gnomADv4_1_nhomalt_joint_XX=13117;gnomADv4_1_nhomalt_joint_XY=12903;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2705002 chrX_2705002_A_G A G 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=3.442;CADD_Rawscore=0.315477;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-9420A>G|||||||rs34190580||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2705002A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-9420A>G|||||||rs34190580||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2705002A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-9420A>G|||||||rs34190580||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2705002A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-9420A>G|||||||rs34190580||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2705002A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-9420A>G|||||||rs34190580||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2705002A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-9420A>G|||||||rs34190580||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2705002A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-9420A>G|||||||rs34190580||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2705002A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-9420A>G|||||||rs34190580||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2705002A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-9420A>G|||||||rs34190580||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2705002A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-9420A>G|||||||rs34190580||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2705002A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-9420A>G|||||||rs34190580||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2705002A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-9420A>G|||||||rs34190580||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2705002A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-9420A>G|||||||rs34190580||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2705002A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-9420A>G|||||||rs34190580||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2705002A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-9420A>G|||||||rs34190580||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2705002A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-9420A>G|||||||rs34190580||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2705002A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-9420A>G|||||||rs34190580||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2705002A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-9420A>G|||||||rs34190580||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2705002A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-9|2|18|-8;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59977;gnomADv4_1_AC_joint_XX=30439;gnomADv4_1_AC_joint_XY=29538;gnomADv4_1_AF_grpmax_joint=0.478567;gnomADv4_1_AF_joint=0.394181;gnomADv4_1_AF_joint_XX=0.391267;gnomADv4_1_AF_joint_XY=0.39723;gnomADv4_1_AN_grpmax_joint=67980;gnomADv4_1_AN_joint=152156;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=74360;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=12582;gnomADv4_1_nhomalt_joint_XX=6385;gnomADv4_1_nhomalt_joint_XY=6197;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2705504 chrX_2705504_C_T C T 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.888;CADD_Rawscore=-0.048447;CSQ=T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-8918C>T|||||||rs311051||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2705504C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-8918C>T|||||||rs311051||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2705504C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-8918C>T|||||||rs311051||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2705504C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-8918C>T|||||||rs311051||1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2705504C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-8918C>T|||||||rs311051||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2705504C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-8918C>T|||||||rs311051||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2705504C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-8918C>T|||||||rs311051||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2705504C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-8918C>T|||||||rs311051||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2705504C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-8918C>T|||||||rs311051||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2705504C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-8918C>T|||||||rs311051||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2705504C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-8918C>T|||||||rs311051||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2705504C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-8918C>T|||||||rs311051||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2705504C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-8918C>T|||||||rs311051||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2705504C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-8918C>T|||||||rs311051||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2705504C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-8918C>T|||||||rs311051||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2705504C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-8918C>T|||||||rs311051||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2705504C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-8918C>T|||||||rs311051||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2705504C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-8918C>T|||||||rs311051||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2705504C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_BJHD|enhancer||||||||||rs311051|||||||||||||||||||||chrX:g.2705504C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|40|9|-47|21;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_BJHD;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72504;gnomADv4_1_AC_joint_XX=36093;gnomADv4_1_AC_joint_XY=36411;gnomADv4_1_AF_grpmax_joint=0.541528;gnomADv4_1_AF_joint=0.477226;gnomADv4_1_AF_joint_XX=0.464637;gnomADv4_1_AF_joint_XY=0.490397;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=151928;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=17669;gnomADv4_1_nhomalt_joint_XX=8618;gnomADv4_1_nhomalt_joint_XY=9051;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2706063 chrX_2706063_G_GAA G GAA 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.708;CADDIndel_Rawscore=-0.106095;CSQ=AA|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-8347_68-8346dup|||||||rs3047482||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||13|chrX:g.2706075_2706076dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-8347_68-8346dup|||||||rs3047482||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||13|chrX:g.2706075_2706076dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-8347_68-8346dup|||||||rs3047482||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||13|chrX:g.2706075_2706076dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-8347_197-8346dup|||||||rs3047482||1||HGNC|HGNC:7082|5||||||||Ensembl||||||13|chrX:g.2706075_2706076dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-8347_68-8346dup|||||||rs3047482||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||13|chrX:g.2706075_2706076dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-8347_68-8346dup|||||||rs3047482||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||13|chrX:g.2706075_2706076dup|||||||||||||,AA|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-8347_68-8346dup|||||||rs3047482||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||13|chrX:g.2706075_2706076dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-8347_68-8346dup|||||||rs3047482||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||13|chrX:g.2706075_2706076dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-8347_134-8346dup|||||||rs3047482||1||HGNC|HGNC:7082|||||||||Ensembl||||||13|chrX:g.2706075_2706076dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-8347_103-8346dup|||||||rs3047482||1||HGNC|HGNC:7082|||||||||Ensembl||||||13|chrX:g.2706075_2706076dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-8347_137-8346dup|||||||rs3047482||1||HGNC|HGNC:7082|||||||||Ensembl||||||13|chrX:g.2706075_2706076dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-8347_68-8346dup|||||||rs3047482||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||13|chrX:g.2706075_2706076dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-8347_68-8346dup|||||||rs3047482||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||13|chrX:g.2706075_2706076dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-8347_68-8346dup|||||||rs3047482||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||13|chrX:g.2706075_2706076dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-8347_68-8346dup|||||||rs3047482||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||13|chrX:g.2706075_2706076dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-8347_68-8346dup|||||||rs3047482||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||13|chrX:g.2706075_2706076dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-8347_68-8346dup|||||||rs3047482||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||13|chrX:g.2706075_2706076dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-8347_134-8346dup|||||||rs3047482||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||13|chrX:g.2706075_2706076dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98984;gnomADv4_1_AC_joint_XX=51225;gnomADv4_1_AC_joint_XY=47759;gnomADv4_1_AF_grpmax_joint=0.743133;gnomADv4_1_AF_joint=0.693884;gnomADv4_1_AF_joint_XX=0.692679;gnomADv4_1_AF_joint_XY=0.695182;gnomADv4_1_AN_grpmax_joint=65964;gnomADv4_1_AN_joint=142652;gnomADv4_1_AN_joint_XX=73952;gnomADv4_1_AN_joint_XY=68700;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=34275;gnomADv4_1_nhomalt_joint_XX=17730;gnomADv4_1_nhomalt_joint_XY=16545;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2706145 chrX_2706145_T_G T G 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.841;CADD_Rawscore=0.14206;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-8277T>G|||||||rs311052||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2706145T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-8277T>G|||||||rs311052||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2706145T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-8277T>G|||||||rs311052||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2706145T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-8277T>G|||||||rs311052||1||HGNC|HGNC:7082|5||||||||Ensembl||T|T||||chrX:g.2706145T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-8277T>G|||||||rs311052||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2706145T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-8277T>G|||||||rs311052||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2706145T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-8277T>G|||||||rs311052||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2706145T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-8277T>G|||||||rs311052||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2706145T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-8277T>G|||||||rs311052||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2706145T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-8277T>G|||||||rs311052||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2706145T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-8277T>G|||||||rs311052||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2706145T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-8277T>G|||||||rs311052||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2706145T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-8277T>G|||||||rs311052||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2706145T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-8277T>G|||||||rs311052||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2706145T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-8277T>G|||||||rs311052||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2706145T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-8277T>G|||||||rs311052||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2706145T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-8277T>G|||||||rs311052||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2706145T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-8277T>G|||||||rs311052||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2706145T>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-1|31|-1|31;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=104868;gnomADv4_1_AC_joint_XX=53488;gnomADv4_1_AC_joint_XY=51380;gnomADv4_1_AF_grpmax_joint=0.743416;gnomADv4_1_AF_joint=0.694886;gnomADv4_1_AF_joint_XX=0.692007;gnomADv4_1_AF_joint_XY=0.697908;gnomADv4_1_AN_grpmax_joint=67736;gnomADv4_1_AN_joint=150914;gnomADv4_1_AN_joint_XX=77294;gnomADv4_1_AN_joint_XY=73620;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=36687;gnomADv4_1_nhomalt_joint_XX=18679;gnomADv4_1_nhomalt_joint_XY=18008;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2706354 chrX_2706354_T_C T C 58 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.153;CADD_Rawscore=-0.497851;CSQ=C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-8068T>C|||||||rs311053||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2706354T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-8068T>C|||||||rs311053||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2706354T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-8068T>C|||||||rs311053||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2706354T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-8068T>C|||||||rs311053||1||HGNC|HGNC:7082|5||||||||Ensembl||T|T||||chrX:g.2706354T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-8068T>C|||||||rs311053||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2706354T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-8068T>C|||||||rs311053||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2706354T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-8068T>C|||||||rs311053||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2706354T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-8068T>C|||||||rs311053||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2706354T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-8068T>C|||||||rs311053||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2706354T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-8068T>C|||||||rs311053||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2706354T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-8068T>C|||||||rs311053||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2706354T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-8068T>C|||||||rs311053||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2706354T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-8068T>C|||||||rs311053||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2706354T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-8068T>C|||||||rs311053||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2706354T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-8068T>C|||||||rs311053||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2706354T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-8068T>C|||||||rs311053||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2706354T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-8068T>C|||||||rs311053||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2706354T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-8068T>C|||||||rs311053||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2706354T>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|-4|14|13|14;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=121696;gnomADv4_1_AC_joint_XX=61870;gnomADv4_1_AC_joint_XY=59826;gnomADv4_1_AF_grpmax_joint=0.852183;gnomADv4_1_AF_joint=0.800969;gnomADv4_1_AF_joint_XX=0.796042;gnomADv4_1_AF_joint_XY=0.806128;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=151936;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=48878;gnomADv4_1_nhomalt_joint_XX=24735;gnomADv4_1_nhomalt_joint_XY=24143;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2706368 chrX_2706368_G_A G A 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.664;CADD_Rawscore=-0.122171;CSQ=A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-8054G>A|||||||rs311054||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2706368G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-8054G>A|||||||rs311054||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2706368G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-8054G>A|||||||rs311054||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2706368G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-8054G>A|||||||rs311054||1||HGNC|HGNC:7082|5||||||||Ensembl||G|G||||chrX:g.2706368G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-8054G>A|||||||rs311054||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2706368G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-8054G>A|||||||rs311054||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2706368G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-8054G>A|||||||rs311054||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2706368G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-8054G>A|||||||rs311054||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2706368G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-8054G>A|||||||rs311054||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2706368G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-8054G>A|||||||rs311054||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2706368G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-8054G>A|||||||rs311054||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2706368G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-8054G>A|||||||rs311054||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2706368G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-8054G>A|||||||rs311054||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2706368G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-8054G>A|||||||rs311054||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2706368G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-8054G>A|||||||rs311054||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2706368G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-8054G>A|||||||rs311054||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2706368G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-8054G>A|||||||rs311054||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2706368G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-8054G>A|||||||rs311054||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2706368G>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|45|0|-32|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=112961;gnomADv4_1_AC_joint_XX=57703;gnomADv4_1_AC_joint_XY=55258;gnomADv4_1_AF_grpmax_joint=0.776768;gnomADv4_1_AF_joint=0.743967;gnomADv4_1_AF_joint_XX=0.742753;gnomADv4_1_AF_joint_XY=0.745239;gnomADv4_1_AN_grpmax_joint=67898;gnomADv4_1_AN_joint=151836;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74148;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=42402;gnomADv4_1_nhomalt_joint_XX=21626;gnomADv4_1_nhomalt_joint_XY=20776;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2706426 chrX_2706426_A_G A G 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.479;CADD_Rawscore=0.084352;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-7996A>G|||||||rs311055||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2706426A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-7996A>G|||||||rs311055||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2706426A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-7996A>G|||||||rs311055||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2706426A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-7996A>G|||||||rs311055||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2706426A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-7996A>G|||||||rs311055||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2706426A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-7996A>G|||||||rs311055||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2706426A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-7996A>G|||||||rs311055||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2706426A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-7996A>G|||||||rs311055||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2706426A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-7996A>G|||||||rs311055||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2706426A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-7996A>G|||||||rs311055||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2706426A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-7996A>G|||||||rs311055||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2706426A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-7996A>G|||||||rs311055||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2706426A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-7996A>G|||||||rs311055||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2706426A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-7996A>G|||||||rs311055||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2706426A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-7996A>G|||||||rs311055||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2706426A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-7996A>G|||||||rs311055||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2706426A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-7996A>G|||||||rs311055||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2706426A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-7996A>G|||||||rs311055||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2706426A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-13|1|16|1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118745;gnomADv4_1_AC_joint_XX=60350;gnomADv4_1_AC_joint_XY=58395;gnomADv4_1_AF_grpmax_joint=0.843491;gnomADv4_1_AF_joint=0.780621;gnomADv4_1_AF_joint_XX=0.776026;gnomADv4_1_AF_joint_XY=0.785428;gnomADv4_1_AN_grpmax_joint=4824;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=74348;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=46516;gnomADv4_1_nhomalt_joint_XX=23539;gnomADv4_1_nhomalt_joint_XY=22977;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2706483 chrX_2706483_C_T C T 55 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.993;CADD_Rawscore=0.162965;CSQ=T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-7939C>T|||||||rs5982836||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2706483C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-7939C>T|||||||rs5982836||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2706483C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-7939C>T|||||||rs5982836||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2706483C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-7939C>T|||||||rs5982836||1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2706483C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-7939C>T|||||||rs5982836||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2706483C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-7939C>T|||||||rs5982836||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2706483C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-7939C>T|||||||rs5982836||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2706483C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-7939C>T|||||||rs5982836||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2706483C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-7939C>T|||||||rs5982836||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2706483C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-7939C>T|||||||rs5982836||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2706483C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-7939C>T|||||||rs5982836||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2706483C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-7939C>T|||||||rs5982836||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2706483C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-7939C>T|||||||rs5982836||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2706483C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-7939C>T|||||||rs5982836||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2706483C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-7939C>T|||||||rs5982836||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2706483C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-7939C>T|||||||rs5982836||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2706483C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-7939C>T|||||||rs5982836||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2706483C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-7939C>T|||||||rs5982836||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2706483C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|7|34|-41|-4;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29938;gnomADv4_1_AC_joint_XX=15279;gnomADv4_1_AC_joint_XY=14659;gnomADv4_1_AF_grpmax_joint=0.268707;gnomADv4_1_AF_joint=0.196808;gnomADv4_1_AF_joint_XX=0.196444;gnomADv4_1_AF_joint_XY=0.197189;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152118;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3217;gnomADv4_1_nhomalt_joint_XX=1652;gnomADv4_1_nhomalt_joint_XY=1565;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2707310 chrX_2707310_A_G A G 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=3.65;CADD_Rawscore=0.334104;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-7112A>G|||||||rs186120062||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2707310A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-7112A>G|||||||rs186120062||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2707310A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-7112A>G|||||||rs186120062||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2707310A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-7112A>G|||||||rs186120062||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2707310A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-7112A>G|||||||rs186120062||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2707310A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-7112A>G|||||||rs186120062||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2707310A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-7112A>G|||||||rs186120062||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2707310A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-7112A>G|||||||rs186120062||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2707310A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-7112A>G|||||||rs186120062||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2707310A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-7112A>G|||||||rs186120062||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2707310A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-7112A>G|||||||rs186120062||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2707310A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-7112A>G|||||||rs186120062||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2707310A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-7112A>G|||||||rs186120062||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2707310A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-7112A>G|||||||rs186120062||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2707310A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-7112A>G|||||||rs186120062||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2707310A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-7112A>G|||||||rs186120062||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2707310A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-7112A>G|||||||rs186120062||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2707310A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-7112A>G|||||||rs186120062||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2707310A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_D5LX|enhancer||||||||||rs186120062|||||||||||||||||||||chrX:g.2707310A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-8|25|-8|-39;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_D5LX;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=744;gnomADv4_1_AC_joint_XX=307;gnomADv4_1_AC_joint_XY=437;gnomADv4_1_AF_grpmax_joint=0.00906241;gnomADv4_1_AF_joint=0.00499657;gnomADv4_1_AF_joint_XX=0.00401622;gnomADv4_1_AF_joint_XY=0.00603075;gnomADv4_1_AN_grpmax_joint=14676;gnomADv4_1_AN_joint=148902;gnomADv4_1_AN_joint_XX=76440;gnomADv4_1_AN_joint_XY=72462;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=7;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=6;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2707329 chrX_2707329_C_CAAAAGAAAAG;chrX_2707329_C_CAAAAG C CAAAAGAAAAG 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.268;CADDIndel_Rawscore=-0.350781;CSQ=AAAAGAAAAG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-7078_68-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-7078_68-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-7078_68-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-7078_197-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|5||||||||Ensembl||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-7078_68-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-7078_68-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-7078_68-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-7078_68-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-7078_134-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|||||||||Ensembl||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-7078_103-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|||||||||Ensembl||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-7078_137-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|||||||||Ensembl||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-7078_68-7069dup|||||||rs58329163||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-7078_68-7069dup|||||||rs58329163||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-7078_68-7069dup|||||||rs58329163||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-7078_68-7069dup|||||||rs58329163||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-7078_68-7069dup|||||||rs58329163||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-7078_68-7069dup|||||||rs58329163||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-7078_134-7069dup|||||||rs58329163||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||24|chrX:g.2707344_2707353dup|||||||||||||,AAAAGAAAAG|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_D5LX|enhancer||||||||||rs58329163|||||||||||||||||||||chrX:g.2707344_2707353dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAAGAAAAG,AAAAGAAAAG,AAAAGAAAAG,AAAAGAAAAG,AAAAGAAAAG,AAAAGAAAAG,AAAAGAAAAG,AAAAGAAAAG,AAAAGAAAAG,AAAAGAAAAG,AAAAGAAAAG,AAAAGAAAAG,AAAAGAAAAG,AAAAGAAAAG,AAAAGAAAAG,AAAAGAAAAG,AAAAGAAAAG,AAAAGAAAAG,AAAAGAAAAG;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_D5LX;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21672;gnomADv4_1_AC_joint_XX=10978;gnomADv4_1_AC_joint_XY=10694;gnomADv4_1_AF_grpmax_joint=0.24349;gnomADv4_1_AF_joint=0.145311;gnomADv4_1_AF_joint_XX=0.143122;gnomADv4_1_AF_joint_XY=0.14763;gnomADv4_1_AN_grpmax_joint=4608;gnomADv4_1_AN_joint=149142;gnomADv4_1_AN_joint_XX=76704;gnomADv4_1_AN_joint_XY=72438;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1761;gnomADv4_1_nhomalt_joint_XX=889;gnomADv4_1_nhomalt_joint_XY=872;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2707329 chrX_2707329_C_CAAAAGAAAAG;chrX_2707329_C_CAAAAG C CAAAAG 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.294;CADDIndel_Rawscore=-0.327596;CSQ=AAAAG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-7073_68-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-7073_68-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-7073_68-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-7073_197-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|5||||||||Ensembl||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-7073_68-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-7073_68-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-7073_68-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-7073_68-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-7073_134-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|||||||||Ensembl||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-7073_103-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|||||||||Ensembl||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-7073_137-7069dup|||||||rs58329163||1||HGNC|HGNC:7082|||||||||Ensembl||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-7073_68-7069dup|||||||rs58329163||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-7073_68-7069dup|||||||rs58329163||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-7073_68-7069dup|||||||rs58329163||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-7073_68-7069dup|||||||rs58329163||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-7073_68-7069dup|||||||rs58329163||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-7073_68-7069dup|||||||rs58329163||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-7073_134-7069dup|||||||rs58329163||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||24|chrX:g.2707349_2707353dup|||||||||||||,AAAAG|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_D5LX|enhancer||||||||||rs58329163|||||||||||||||||||||chrX:g.2707349_2707353dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAAG,AAAAG,AAAAG,AAAAG,AAAAG,AAAAG,AAAAG,AAAAG,AAAAG,AAAAG,AAAAG,AAAAG,AAAAG,AAAAG,AAAAG,AAAAG,AAAAG,AAAAG,AAAAG;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_D5LX;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65263;gnomADv4_1_AC_joint_XX=32979;gnomADv4_1_AC_joint_XY=32284;gnomADv4_1_AF_grpmax_joint=0.520747;gnomADv4_1_AF_joint=0.437842;gnomADv4_1_AF_joint_XX=0.430198;gnomADv4_1_AF_joint_XY=0.445936;gnomADv4_1_AN_grpmax_joint=67238;gnomADv4_1_AN_joint=149056;gnomADv4_1_AN_joint_XX=76660;gnomADv4_1_AN_joint_XY=72396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15119;gnomADv4_1_nhomalt_joint_XX=7522;gnomADv4_1_nhomalt_joint_XY=7597;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2707402 chrX_2707402_C_A C A 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=54;CADD_PHREDscore=0.019;CADD_Rawscore=-1.07946;CSQ=A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-7020C>A|||||||rs311056||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2707402C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-7020C>A|||||||rs311056||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2707402C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-7020C>A|||||||rs311056||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2707402C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-7020C>A|||||||rs311056||1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2707402C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-7020C>A|||||||rs311056||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2707402C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-7020C>A|||||||rs311056||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2707402C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-7020C>A|||||||rs311056||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2707402C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-7020C>A|||||||rs311056||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2707402C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-7020C>A|||||||rs311056||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2707402C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-7020C>A|||||||rs311056||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2707402C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-7020C>A|||||||rs311056||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2707402C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-7020C>A|||||||rs311056||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2707402C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-7020C>A|||||||rs311056||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2707402C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-7020C>A|||||||rs311056||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2707402C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-7020C>A|||||||rs311056||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2707402C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-7020C>A|||||||rs311056||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2707402C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-7020C>A|||||||rs311056||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2707402C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-7020C>A|||||||rs311056||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2707402C>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_D5LX|enhancer||||||||||rs311056|||||||||||||||||||||chrX:g.2707402C>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|2|-27|2|-27;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_D5LX;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=117871;gnomADv4_1_AC_joint_XX=59730;gnomADv4_1_AC_joint_XY=58141;gnomADv4_1_AF_grpmax_joint=0.850622;gnomADv4_1_AF_joint=0.775212;gnomADv4_1_AF_joint_XX=0.768251;gnomADv4_1_AF_joint_XY=0.782496;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=45738;gnomADv4_1_nhomalt_joint_XX=23009;gnomADv4_1_nhomalt_joint_XY=22729;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2708121 chrX_2708121_T_C T C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.062;CADD_Rawscore=-0.002135;CSQ=C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-6301T>C|||||||rs1639338||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2708121T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-6301T>C|||||||rs1639338||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2708121T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-6301T>C|||||||rs1639338||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2708121T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-6301T>C|||||||rs1639338||1||HGNC|HGNC:7082|5||||||||Ensembl||T|T||||chrX:g.2708121T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-6301T>C|||||||rs1639338||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2708121T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-6301T>C|||||||rs1639338||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2708121T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-6301T>C|||||||rs1639338||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2708121T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-6301T>C|||||||rs1639338||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2708121T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-6301T>C|||||||rs1639338||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2708121T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-6301T>C|||||||rs1639338||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2708121T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-6301T>C|||||||rs1639338||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2708121T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-6301T>C|||||||rs1639338||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2708121T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-6301T>C|||||||rs1639338||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2708121T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-6301T>C|||||||rs1639338||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2708121T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-6301T>C|||||||rs1639338||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2708121T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-6301T>C|||||||rs1639338||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2708121T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-6301T>C|||||||rs1639338||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2708121T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-6301T>C|||||||rs1639338||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2708121T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_D5LX|enhancer||||||||||rs1639338|||||||||||||||||||||chrX:g.2708121T>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|7|-50|-45|-41;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_D5LX;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=115662;gnomADv4_1_AC_joint_XX=58451;gnomADv4_1_AC_joint_XY=57211;gnomADv4_1_AF_grpmax_joint=0.851998;gnomADv4_1_AF_joint=0.771759;gnomADv4_1_AF_joint_XX=0.764245;gnomADv4_1_AF_joint_XY=0.77959;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=149868;gnomADv4_1_AN_joint_XX=76482;gnomADv4_1_AN_joint_XY=73386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=44181;gnomADv4_1_nhomalt_joint_XX=22114;gnomADv4_1_nhomalt_joint_XY=22067;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2708661 chrX_2708661_A_G A G 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.214;CADD_Rawscore=-0.408921;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-5761A>G|||||||rs311057||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2708661A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-5761A>G|||||||rs311057||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2708661A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-5761A>G|||||||rs311057||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2708661A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-5761A>G|||||||rs311057||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2708661A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-5761A>G|||||||rs311057||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2708661A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-5761A>G|||||||rs311057||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2708661A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-5761A>G|||||||rs311057||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2708661A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-5761A>G|||||||rs311057||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2708661A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-5761A>G|||||||rs311057||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2708661A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-5761A>G|||||||rs311057||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2708661A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-5761A>G|||||||rs311057||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2708661A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-5761A>G|||||||rs311057||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2708661A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-5761A>G|||||||rs311057||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2708661A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-5761A>G|||||||rs311057||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2708661A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-5761A>G|||||||rs311057||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2708661A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-5761A>G|||||||rs311057||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2708661A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-5761A>G|||||||rs311057||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2708661A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-5761A>G|||||||rs311057||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2708661A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_D5LX|enhancer||||||||||rs311057|||||||||||||||||||||chrX:g.2708661A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-16|19|-16|19;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_D5LX;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119747;gnomADv4_1_AC_joint_XX=60765;gnomADv4_1_AC_joint_XY=58982;gnomADv4_1_AF_grpmax_joint=0.852966;gnomADv4_1_AF_joint=0.787716;gnomADv4_1_AF_joint_XX=0.781523;gnomADv4_1_AF_joint_XY=0.794199;gnomADv4_1_AN_grpmax_joint=4822;gnomADv4_1_AN_joint=152018;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74266;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=47231;gnomADv4_1_nhomalt_joint_XX=23820;gnomADv4_1_nhomalt_joint_XY=23411;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2709203 chrX_2709203_A_ACATGCATGCACACTCATGCCATGCATATATG A ACATGCATGCACACTCATGCCATGCATATATG 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.753;CADDIndel_Rawscore=-0.090392;CSQ=CATGCATGCACACTCATGCCATGCATATATG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-5205_68-5175dup|||||||rs776365919||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-5205_68-5175dup|||||||rs776365919||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-5205_68-5175dup|||||||rs776365919||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-5205_197-5175dup|||||||rs776365919||1||HGNC|HGNC:7082|5||||||||Ensembl||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-5205_68-5175dup|||||||rs776365919||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-5205_68-5175dup|||||||rs776365919||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-5205_68-5175dup|||||||rs776365919||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-5205_68-5175dup|||||||rs776365919||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-5205_134-5175dup|||||||rs776365919||1||HGNC|HGNC:7082|||||||||Ensembl||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-5205_103-5175dup|||||||rs776365919||1||HGNC|HGNC:7082|||||||||Ensembl||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-5205_137-5175dup|||||||rs776365919||1||HGNC|HGNC:7082|||||||||Ensembl||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-5205_68-5175dup|||||||rs776365919||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-5205_68-5175dup|||||||rs776365919||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-5205_68-5175dup|||||||rs776365919||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-5205_68-5175dup|||||||rs776365919||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-5205_68-5175dup|||||||rs776365919||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-5205_68-5175dup|||||||rs776365919||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-5205_134-5175dup|||||||rs776365919||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||44|chrX:g.2709217_2709247dup|||||||||||||,CATGCATGCACACTCATGCCATGCATATATG|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_D5LX|enhancer||||||||||rs776365919|||||||||||||||||||||chrX:g.2709217_2709247dup|||||||||||||;TYPE=INDEL;VEP_Allele=CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG,CATGCATGCACACTCATGCCATGCATATATG;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_D5LX;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48004;gnomADv4_1_AC_joint_XX=24087;gnomADv4_1_AC_joint_XY=23917;gnomADv4_1_AF_grpmax_joint=0.469751;gnomADv4_1_AF_joint=0.322603;gnomADv4_1_AF_joint_XX=0.314855;gnomADv4_1_AF_joint_XY=0.330802;gnomADv4_1_AN_grpmax_joint=66416;gnomADv4_1_AN_joint=148802;gnomADv4_1_AN_joint_XX=76502;gnomADv4_1_AN_joint_XY=72300;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9813;gnomADv4_1_nhomalt_joint_XX=4963;gnomADv4_1_nhomalt_joint_XY=4850;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2709310 chrX_2709310_GCA_G GCA G 51 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.363;CADDIndel_Rawscore=-0.273587;CSQ=-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-5109_68-5108del|||||||rs72459779||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-5109_68-5108del|||||||rs72459779||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-5109_68-5108del|||||||rs72459779||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-5109_197-5108del|||||||rs72459779||1||HGNC|HGNC:7082|5||||||||Ensembl||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-5109_68-5108del|||||||rs72459779||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-5109_68-5108del|||||||rs72459779||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-5109_68-5108del|||||||rs72459779||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-5109_68-5108del|||||||rs72459779||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-5109_134-5108del|||||||rs72459779||1||HGNC|HGNC:7082|||||||||Ensembl||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-5109_103-5108del|||||||rs72459779||1||HGNC|HGNC:7082|||||||||Ensembl||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-5109_137-5108del|||||||rs72459779||1||HGNC|HGNC:7082|||||||||Ensembl||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-5109_68-5108del|||||||rs72459779||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-5109_68-5108del|||||||rs72459779||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-5109_68-5108del|||||||rs72459779||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-5109_68-5108del|||||||rs72459779||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-5109_68-5108del|||||||rs72459779||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-5109_68-5108del|||||||rs72459779||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-5109_134-5108del|||||||rs72459779||1||EntrezGene|HGNC:7082|||||||||RefSeq||CA|CA|||2|chrX:g.2709313_2709314del|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|49|-46|48|-48;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31542;gnomADv4_1_AC_joint_XX=16192;gnomADv4_1_AC_joint_XY=15350;gnomADv4_1_AF_grpmax_joint=0.304511;gnomADv4_1_AF_joint=0.217019;gnomADv4_1_AF_joint_XX=0.216679;gnomADv4_1_AF_joint_XY=0.217379;gnomADv4_1_AN_grpmax_joint=266;gnomADv4_1_AN_joint=145342;gnomADv4_1_AN_joint_XX=74728;gnomADv4_1_AN_joint_XY=70614;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3454;gnomADv4_1_nhomalt_joint_XX=1792;gnomADv4_1_nhomalt_joint_XY=1662;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2709663 chrX_2709663_T_C T C 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.574;CADD_Rawscore=-0.158472;CSQ=C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-4759T>C|||||||rs311059||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2709663T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-4759T>C|||||||rs311059||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2709663T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-4759T>C|||||||rs311059||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2709663T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-4759T>C|||||||rs311059||1||HGNC|HGNC:7082|5||||||||Ensembl||T|T||||chrX:g.2709663T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-4759T>C|||||||rs311059||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2709663T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-4759T>C|||||||rs311059||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2709663T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-4759T>C|||||||rs311059||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2709663T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-4759T>C|||||||rs311059||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2709663T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-4759T>C|||||||rs311059||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2709663T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-4759T>C|||||||rs311059||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2709663T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-4759T>C|||||||rs311059||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2709663T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-4759T>C|||||||rs311059||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2709663T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-4759T>C|||||||rs311059||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2709663T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-4759T>C|||||||rs311059||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2709663T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-4759T>C|||||||rs311059||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2709663T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-4759T>C|||||||rs311059||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2709663T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-4759T>C|||||||rs311059||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2709663T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-4759T>C|||||||rs311059||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2709663T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C993|enhancer||||||||||rs311059|||||||||||||||||||||chrX:g.2709663T>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|0|41|6|50;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_C993;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=95313;gnomADv4_1_AC_joint_XX=48246;gnomADv4_1_AC_joint_XY=47067;gnomADv4_1_AF_grpmax_joint=0.724515;gnomADv4_1_AF_joint=0.626425;gnomADv4_1_AF_joint_XX=0.620527;gnomADv4_1_AF_joint_XY=0.632587;gnomADv4_1_AN_grpmax_joint=67982;gnomADv4_1_AN_joint=152154;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=30859;gnomADv4_1_nhomalt_joint_XX=15566;gnomADv4_1_nhomalt_joint_XY=15293;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2709697 chrX_2709697_A_AACATAGACACACACATGCATGT A AACATAGACACACACATGCATGT 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.33;CADDIndel_Rawscore=-0.29799;CSQ=ACATAGACACACACATGCATGT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-4714_68-4693dup|||||||rs1360542078||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-4714_68-4693dup|||||||rs1360542078||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-4714_68-4693dup|||||||rs1360542078||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-4714_197-4693dup|||||||rs1360542078||1||HGNC|HGNC:7082|5||||||||Ensembl||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-4714_68-4693dup|||||||rs1360542078||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-4714_68-4693dup|||||||rs1360542078||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-4714_68-4693dup|||||||rs1360542078||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-4714_68-4693dup|||||||rs1360542078||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-4714_134-4693dup|||||||rs1360542078||1||HGNC|HGNC:7082|||||||||Ensembl||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-4714_103-4693dup|||||||rs1360542078||1||HGNC|HGNC:7082|||||||||Ensembl||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-4714_137-4693dup|||||||rs1360542078||1||HGNC|HGNC:7082|||||||||Ensembl||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-4714_68-4693dup|||||||rs1360542078||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-4714_68-4693dup|||||||rs1360542078||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-4714_68-4693dup|||||||rs1360542078||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-4714_68-4693dup|||||||rs1360542078||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-4714_68-4693dup|||||||rs1360542078||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-4714_68-4693dup|||||||rs1360542078||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-4714_134-4693dup|||||||rs1360542078||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||32|chrX:g.2709708_2709729dup|||||||||||||,ACATAGACACACACATGCATGT|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C993|enhancer||||||||||rs1360542078|||||||||||||||||||||chrX:g.2709708_2709729dup|||||||||||||;TYPE=INDEL;VEP_Allele=ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT,ACATAGACACACACATGCATGT;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_C993;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31413;gnomADv4_1_AC_joint_XX=16208;gnomADv4_1_AC_joint_XY=15205;gnomADv4_1_AF_grpmax_joint=0.270548;gnomADv4_1_AF_joint=0.206934;gnomADv4_1_AF_joint_XX=0.208662;gnomADv4_1_AF_joint_XY=0.205124;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151802;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74126;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3422;gnomADv4_1_nhomalt_joint_XX=1796;gnomADv4_1_nhomalt_joint_XY=1626;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2709788 chrX_2709788_C_G C G 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=5.953;CADD_Rawscore=0.54842;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-4634C>G|||||||rs311060||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2709788C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-4634C>G|||||||rs311060||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2709788C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-4634C>G|||||||rs311060||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2709788C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-4634C>G|||||||rs311060||1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2709788C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-4634C>G|||||||rs311060||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2709788C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-4634C>G|||||||rs311060||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2709788C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-4634C>G|||||||rs311060||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2709788C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-4634C>G|||||||rs311060||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2709788C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-4634C>G|||||||rs311060||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2709788C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-4634C>G|||||||rs311060||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2709788C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-4634C>G|||||||rs311060||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2709788C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-4634C>G|||||||rs311060||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2709788C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-4634C>G|||||||rs311060||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2709788C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-4634C>G|||||||rs311060||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2709788C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-4634C>G|||||||rs311060||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2709788C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-4634C>G|||||||rs311060||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2709788C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-4634C>G|||||||rs311060||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2709788C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-4634C>G|||||||rs311060||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2709788C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C993|enhancer||||||||||rs311060|||||||||||||||||||||chrX:g.2709788C>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-20|23|50|-49;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_C993;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38105;gnomADv4_1_AC_joint_XX=20008;gnomADv4_1_AC_joint_XY=18097;gnomADv4_1_AF_grpmax_joint=0.311632;gnomADv4_1_AF_joint=0.250579;gnomADv4_1_AF_joint_XX=0.257305;gnomADv4_1_AF_joint_XY=0.24354;gnomADv4_1_AN_grpmax_joint=41488;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4993;gnomADv4_1_nhomalt_joint_XX=2708;gnomADv4_1_nhomalt_joint_XY=2285;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2710160 chrX_2710160_A_G A G 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=2.867;CADD_Rawscore=0.261605;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-4262A>G|||||||rs311061||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2710160A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-4262A>G|||||||rs311061||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2710160A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-4262A>G|||||||rs311061||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2710160A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-4262A>G|||||||rs311061||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2710160A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-4262A>G|||||||rs311061||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2710160A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-4262A>G|||||||rs311061||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2710160A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-4262A>G|||||||rs311061||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2710160A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-4262A>G|||||||rs311061||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2710160A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-4262A>G|||||||rs311061||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2710160A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-4262A>G|||||||rs311061||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2710160A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-4262A>G|||||||rs311061||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2710160A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-4262A>G|||||||rs311061||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2710160A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-4262A>G|||||||rs311061||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2710160A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-4262A>G|||||||rs311061||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2710160A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-4262A>G|||||||rs311061||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2710160A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-4262A>G|||||||rs311061||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2710160A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-4262A>G|||||||rs311061||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2710160A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-4262A>G|||||||rs311061||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2710160A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C993|enhancer||||||||||rs311061|||||||||||||||||||||chrX:g.2710160A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-35|20|40|-41;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_C993;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40034;gnomADv4_1_AC_joint_XX=21041;gnomADv4_1_AC_joint_XY=18993;gnomADv4_1_AF_grpmax_joint=0.424728;gnomADv4_1_AF_joint=0.339386;gnomADv4_1_AF_joint_XX=0.342698;gnomADv4_1_AF_joint_XY=0.335791;gnomADv4_1_AN_grpmax_joint=34608;gnomADv4_1_AN_joint=117960;gnomADv4_1_AN_joint_XX=61398;gnomADv4_1_AN_joint_XY=56562;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5595;gnomADv4_1_nhomalt_joint_XX=3034;gnomADv4_1_nhomalt_joint_XY=2561;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2710175 chrX_2710175_T_TC T TC 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADDIndel_PHREDscore=1.619;CADDIndel_Rawscore=0.108244;CSQ=C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-4246dup|||||||rs59512122||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||1|chrX:g.2710176dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-4246dup|||||||rs59512122||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||1|chrX:g.2710176dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-4246dup|||||||rs59512122||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||1|chrX:g.2710176dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-4246dup|||||||rs59512122||1||HGNC|HGNC:7082|5||||||||Ensembl||||||1|chrX:g.2710176dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-4246dup|||||||rs59512122||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||1|chrX:g.2710176dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-4246dup|||||||rs59512122||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||1|chrX:g.2710176dup|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-4246dup|||||||rs59512122||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||1|chrX:g.2710176dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-4246dup|||||||rs59512122||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||1|chrX:g.2710176dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-4246dup|||||||rs59512122||1||HGNC|HGNC:7082|||||||||Ensembl||||||1|chrX:g.2710176dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-4246dup|||||||rs59512122||1||HGNC|HGNC:7082|||||||||Ensembl||||||1|chrX:g.2710176dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-4246dup|||||||rs59512122||1||HGNC|HGNC:7082|||||||||Ensembl||||||1|chrX:g.2710176dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-4246dup|||||||rs59512122||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||1|chrX:g.2710176dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-4246dup|||||||rs59512122||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||1|chrX:g.2710176dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-4246dup|||||||rs59512122||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||1|chrX:g.2710176dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-4246dup|||||||rs59512122||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||1|chrX:g.2710176dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-4246dup|||||||rs59512122||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||1|chrX:g.2710176dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-4246dup|||||||rs59512122||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||1|chrX:g.2710176dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-4246dup|||||||rs59512122||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||1|chrX:g.2710176dup|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C993|enhancer||||||||||rs59512122|||||||||||||||||||||chrX:g.2710176dup|||||||||||||;SpliceAI=TC|CD99|0.00|0.00|0.00|0.00|-50|-28|30|25;TYPE=INDEL;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_C993;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119551;gnomADv4_1_AC_joint_XX=60650;gnomADv4_1_AC_joint_XY=58901;gnomADv4_1_AF_grpmax_joint=0.846489;gnomADv4_1_AF_joint=0.78711;gnomADv4_1_AF_joint_XX=0.780868;gnomADv4_1_AF_joint_XY=0.793643;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=151886;gnomADv4_1_AN_joint_XX=77670;gnomADv4_1_AN_joint_XY=74216;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=47124;gnomADv4_1_nhomalt_joint_XX=23756;gnomADv4_1_nhomalt_joint_XY=23368;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2710281 chrX_2710281_A_G A G 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=3.775;CADD_Rawscore=0.345231;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-4141A>G|||||||rs55939824||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2710281A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-4141A>G|||||||rs55939824||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2710281A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-4141A>G|||||||rs55939824||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2710281A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-4141A>G|||||||rs55939824||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2710281A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-4141A>G|||||||rs55939824||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2710281A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-4141A>G|||||||rs55939824||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2710281A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-4141A>G|||||||rs55939824||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2710281A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-4141A>G|||||||rs55939824||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2710281A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-4141A>G|||||||rs55939824||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2710281A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-4141A>G|||||||rs55939824||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2710281A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-4141A>G|||||||rs55939824||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2710281A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-4141A>G|||||||rs55939824||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2710281A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-4141A>G|||||||rs55939824||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2710281A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-4141A>G|||||||rs55939824||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2710281A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-4141A>G|||||||rs55939824||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2710281A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-4141A>G|||||||rs55939824||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2710281A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-4141A>G|||||||rs55939824||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2710281A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-4141A>G|||||||rs55939824||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2710281A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C993|enhancer||||||||||rs55939824|||||||||||||||||||||chrX:g.2710281A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-1|-12|-1|33;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_C993;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10552;gnomADv4_1_AC_joint_XX=5680;gnomADv4_1_AC_joint_XY=4872;gnomADv4_1_AF_grpmax_joint=0.180272;gnomADv4_1_AF_joint=0.0693471;gnomADv4_1_AF_joint_XX=0.0730133;gnomADv4_1_AF_joint_XY=0.065512;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=497;gnomADv4_1_nhomalt_joint_XX=271;gnomADv4_1_nhomalt_joint_XY=226;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2710375 chrX_2710375_A_C A C 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=3.23;CADD_Rawscore=0.296073;CSQ=C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-4047A>C|||||||rs5939112||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2710375A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-4047A>C|||||||rs5939112||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2710375A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-4047A>C|||||||rs5939112||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2710375A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-4047A>C|||||||rs5939112||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2710375A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-4047A>C|||||||rs5939112||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2710375A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-4047A>C|||||||rs5939112||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2710375A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-4047A>C|||||||rs5939112||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2710375A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-4047A>C|||||||rs5939112||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2710375A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-4047A>C|||||||rs5939112||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2710375A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-4047A>C|||||||rs5939112||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2710375A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-4047A>C|||||||rs5939112||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2710375A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-4047A>C|||||||rs5939112||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2710375A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-4047A>C|||||||rs5939112||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2710375A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-4047A>C|||||||rs5939112||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2710375A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-4047A>C|||||||rs5939112||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2710375A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-4047A>C|||||||rs5939112||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2710375A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-4047A>C|||||||rs5939112||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2710375A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-4047A>C|||||||rs5939112||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2710375A>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C993|enhancer||||||||||rs5939112|||||||||||||||||||||chrX:g.2710375A>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|3|39|33|-36;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_C993;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73808;gnomADv4_1_AC_joint_XX=37122;gnomADv4_1_AC_joint_XY=36686;gnomADv4_1_AF_grpmax_joint=0.541086;gnomADv4_1_AF_joint=0.48602;gnomADv4_1_AF_joint_XX=0.478093;gnomADv4_1_AF_joint_XY=0.494314;gnomADv4_1_AN_grpmax_joint=67930;gnomADv4_1_AN_joint=151862;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=74216;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=18378;gnomADv4_1_nhomalt_joint_XX=9092;gnomADv4_1_nhomalt_joint_XY=9286;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2710438 chrX_2710438_G_T G T 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.394;CADD_Rawscore=-0.252782;CSQ=T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-3984G>T|||||||rs5939305||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2710438G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-3984G>T|||||||rs5939305||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2710438G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-3984G>T|||||||rs5939305||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2710438G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-3984G>T|||||||rs5939305||1||HGNC|HGNC:7082|5||||||||Ensembl||G|G||||chrX:g.2710438G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-3984G>T|||||||rs5939305||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2710438G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-3984G>T|||||||rs5939305||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2710438G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-3984G>T|||||||rs5939305||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2710438G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-3984G>T|||||||rs5939305||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2710438G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-3984G>T|||||||rs5939305||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2710438G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-3984G>T|||||||rs5939305||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2710438G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-3984G>T|||||||rs5939305||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2710438G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-3984G>T|||||||rs5939305||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2710438G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-3984G>T|||||||rs5939305||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2710438G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-3984G>T|||||||rs5939305||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2710438G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-3984G>T|||||||rs5939305||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2710438G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-3984G>T|||||||rs5939305||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2710438G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-3984G>T|||||||rs5939305||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2710438G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-3984G>T|||||||rs5939305||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2710438G>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C993|enhancer||||||||||rs5939305|||||||||||||||||||||chrX:g.2710438G>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|9|-24|-20|9;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_C993;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57166;gnomADv4_1_AC_joint_XX=28624;gnomADv4_1_AC_joint_XY=28542;gnomADv4_1_AF_grpmax_joint=0.513414;gnomADv4_1_AF_joint=0.37703;gnomADv4_1_AF_joint_XX=0.369047;gnomADv4_1_AF_joint_XY=0.38539;gnomADv4_1_AN_grpmax_joint=67842;gnomADv4_1_AN_joint=151622;gnomADv4_1_AN_joint_XX=77562;gnomADv4_1_AN_joint_XY=74060;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=12718;gnomADv4_1_nhomalt_joint_XX=6304;gnomADv4_1_nhomalt_joint_XY=6414;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2710514 chrX_2710514_G_GTTTT G GTTTT 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.627;CADDIndel_Rawscore=-0.136699;CSQ=TTTT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-3902_68-3899dup|||||||rs759886806||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-3902_68-3899dup|||||||rs759886806||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-3902_68-3899dup|||||||rs759886806||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-3902_197-3899dup|||||||rs759886806||1||HGNC|HGNC:7082|5||||||||Ensembl||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-3902_68-3899dup|||||||rs759886806||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-3902_68-3899dup|||||||rs759886806||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-3902_68-3899dup|||||||rs759886806||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-3902_68-3899dup|||||||rs759886806||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-3902_134-3899dup|||||||rs759886806||1||HGNC|HGNC:7082|||||||||Ensembl||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-3902_103-3899dup|||||||rs759886806||1||HGNC|HGNC:7082|||||||||Ensembl||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-3902_137-3899dup|||||||rs759886806||1||HGNC|HGNC:7082|||||||||Ensembl||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-3902_68-3899dup|||||||rs759886806||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-3902_68-3899dup|||||||rs759886806||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-3902_68-3899dup|||||||rs759886806||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-3902_68-3899dup|||||||rs759886806||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-3902_68-3899dup|||||||rs759886806||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-3902_68-3899dup|||||||rs759886806||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-3902_134-3899dup|||||||rs759886806||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||9|chrX:g.2710520_2710523dup|||||||||||||,TTTT|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C993|enhancer||||||||||rs759886806|||||||||||||||||||||chrX:g.2710520_2710523dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_C993;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31387;gnomADv4_1_AC_joint_XX=16273;gnomADv4_1_AC_joint_XY=15114;gnomADv4_1_AF_grpmax_joint=0.258865;gnomADv4_1_AF_joint=0.209806;gnomADv4_1_AF_joint_XX=0.212319;gnomADv4_1_AF_joint_XY=0.207166;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=149600;gnomADv4_1_AN_joint_XX=76644;gnomADv4_1_AN_joint_XY=72956;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3407;gnomADv4_1_nhomalt_joint_XX=1798;gnomADv4_1_nhomalt_joint_XY=1609;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2710867 chrX_2710867_C_CT C CT 30 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=30;CADDIndel_PHREDscore=1.044;CADDIndel_Rawscore=-0.00663;CSQ=T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-3534dup|||||||rs541519754||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||21|chrX:g.2710888dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-3534dup|||||||rs541519754||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||21|chrX:g.2710888dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-3534dup|||||||rs541519754||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||21|chrX:g.2710888dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-3534dup|||||||rs541519754||1||HGNC|HGNC:7082|5||||||||Ensembl||||||21|chrX:g.2710888dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-3534dup|||||||rs541519754||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||21|chrX:g.2710888dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-3534dup|||||||rs541519754||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||21|chrX:g.2710888dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-3534dup|||||||rs541519754||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||21|chrX:g.2710888dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-3534dup|||||||rs541519754||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||21|chrX:g.2710888dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-3534dup|||||||rs541519754||1||HGNC|HGNC:7082|||||||||Ensembl||||||21|chrX:g.2710888dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-3534dup|||||||rs541519754||1||HGNC|HGNC:7082|||||||||Ensembl||||||21|chrX:g.2710888dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-3534dup|||||||rs541519754||1||HGNC|HGNC:7082|||||||||Ensembl||||||21|chrX:g.2710888dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-3534dup|||||||rs541519754||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||21|chrX:g.2710888dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-3534dup|||||||rs541519754||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||21|chrX:g.2710888dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-3534dup|||||||rs541519754||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||21|chrX:g.2710888dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-3534dup|||||||rs541519754||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||21|chrX:g.2710888dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-3534dup|||||||rs541519754||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||21|chrX:g.2710888dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-3534dup|||||||rs541519754||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||21|chrX:g.2710888dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-3534dup|||||||rs541519754||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||21|chrX:g.2710888dup|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C993|enhancer||||||||||rs541519754|||||||||||||||||||||chrX:g.2710888dup|||||||||||||;SpliceAI=CT|CD99|0.00|0.00|0.00|0.00|49|25|19|25;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2,ENSRX_C993;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267,.;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68552;gnomADv4_1_AC_joint_XX=37627;gnomADv4_1_AC_joint_XY=30925;gnomADv4_1_AF_grpmax_joint=0.795926;gnomADv4_1_AF_joint=0.688591;gnomADv4_1_AF_joint_XX=0.685798;gnomADv4_1_AF_joint_XY=0.69202;gnomADv4_1_AN_grpmax_joint=2798;gnomADv4_1_AN_joint=99554;gnomADv4_1_AN_joint_XX=54866;gnomADv4_1_AN_joint_XY=44688;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=25523;gnomADv4_1_nhomalt_joint_XX=13903;gnomADv4_1_nhomalt_joint_XY=11620;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2710950 chrX_2710950_A_G A G 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=8.113;CADD_Rawscore=0.781242;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-3472A>G|||||||rs311064||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2710950A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-3472A>G|||||||rs311064||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2710950A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-3472A>G|||||||rs311064||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2710950A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-3472A>G|||||||rs311064||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2710950A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-3472A>G|||||||rs311064||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2710950A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-3472A>G|||||||rs311064||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2710950A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-3472A>G|||||||rs311064||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2710950A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-3472A>G|||||||rs311064||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2710950A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-3472A>G|||||||rs311064||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2710950A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-3472A>G|||||||rs311064||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2710950A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-3472A>G|||||||rs311064||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2710950A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-3472A>G|||||||rs311064||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2710950A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-3472A>G|||||||rs311064||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2710950A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-3472A>G|||||||rs311064||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2710950A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-3472A>G|||||||rs311064||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2710950A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-3472A>G|||||||rs311064||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2710950A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-3472A>G|||||||rs311064||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2710950A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-3472A>G|||||||rs311064||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2710950A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-34|13|47|-7;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53998;gnomADv4_1_AC_joint_XX=28383;gnomADv4_1_AC_joint_XY=25615;gnomADv4_1_AF_grpmax_joint=0.611265;gnomADv4_1_AF_joint=0.376204;gnomADv4_1_AF_joint_XX=0.380143;gnomADv4_1_AF_joint_XY=0.371933;gnomADv4_1_AN_grpmax_joint=38916;gnomADv4_1_AN_joint=143534;gnomADv4_1_AN_joint_XX=74664;gnomADv4_1_AN_joint_XY=68870;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11663;gnomADv4_1_nhomalt_joint_XX=6250;gnomADv4_1_nhomalt_joint_XY=5413;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2711037 chrX_2711037_A_G A G 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=2.669;CADD_Rawscore=0.241597;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-3385A>G|||||||rs812201||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2711037A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-3385A>G|||||||rs812201||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2711037A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-3385A>G|||||||rs812201||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2711037A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-3385A>G|||||||rs812201||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2711037A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-3385A>G|||||||rs812201||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2711037A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-3385A>G|||||||rs812201||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2711037A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-3385A>G|||||||rs812201||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2711037A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-3385A>G|||||||rs812201||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2711037A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-3385A>G|||||||rs812201||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2711037A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-3385A>G|||||||rs812201||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2711037A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-3385A>G|||||||rs812201||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2711037A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-3385A>G|||||||rs812201||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2711037A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-3385A>G|||||||rs812201||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2711037A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-3385A>G|||||||rs812201||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2711037A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-3385A>G|||||||rs812201||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2711037A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-3385A>G|||||||rs812201||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2711037A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-3385A>G|||||||rs812201||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2711037A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-3385A>G|||||||rs812201||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2711037A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|1|18|-5|-26;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40591;gnomADv4_1_AC_joint_XX=21415;gnomADv4_1_AC_joint_XY=19176;gnomADv4_1_AF_grpmax_joint=0.383632;gnomADv4_1_AF_joint=0.271508;gnomADv4_1_AF_joint_XX=0.279401;gnomADv4_1_AF_joint_XY=0.263204;gnomADv4_1_AN_grpmax_joint=40750;gnomADv4_1_AN_joint=149502;gnomADv4_1_AN_joint_XX=76646;gnomADv4_1_AN_joint_XY=72856;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5921;gnomADv4_1_nhomalt_joint_XX=3245;gnomADv4_1_nhomalt_joint_XY=2676;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2711411 chrX_2711411_AT_A;chrX_2711412_TTA_T AT A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.378;CADDIndel_Rawscore=-0.263487;CSQ=-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-3009del|||||||rs200377471||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T|||1|chrX:g.2711413del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-3009del|||||||rs200377471||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T|||1|chrX:g.2711413del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-3009del|||||||rs200377471||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T|||1|chrX:g.2711413del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-3009del|||||||rs200377471||1||HGNC|HGNC:7082|5||||||||Ensembl||T|T|||1|chrX:g.2711413del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-3009del|||||||rs200377471||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T|||1|chrX:g.2711413del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-3009del|||||||rs200377471||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T|||1|chrX:g.2711413del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-3009del|||||||rs200377471||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T|||1|chrX:g.2711413del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-3009del|||||||rs200377471||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T|||1|chrX:g.2711413del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-3009del|||||||rs200377471||1||HGNC|HGNC:7082|||||||||Ensembl||T|T|||1|chrX:g.2711413del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-3009del|||||||rs200377471||1||HGNC|HGNC:7082|||||||||Ensembl||T|T|||1|chrX:g.2711413del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-3009del|||||||rs200377471||1||HGNC|HGNC:7082|||||||||Ensembl||T|T|||1|chrX:g.2711413del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-3009del|||||||rs200377471||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T|||1|chrX:g.2711413del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-3009del|||||||rs200377471||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T|||1|chrX:g.2711413del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-3009del|||||||rs200377471||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T|||1|chrX:g.2711413del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-3009del|||||||rs200377471||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T|||1|chrX:g.2711413del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-3009del|||||||rs200377471||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T|||1|chrX:g.2711413del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-3009del|||||||rs200377471||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T|||1|chrX:g.2711413del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-3009del|||||||rs200377471||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T|||1|chrX:g.2711413del|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|3|17|-7|-9;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37111;gnomADv4_1_AC_joint_XX=19459;gnomADv4_1_AC_joint_XY=17652;gnomADv4_1_AF_grpmax_joint=0.339857;gnomADv4_1_AF_joint=0.256242;gnomADv4_1_AF_joint_XX=0.262336;gnomADv4_1_AF_joint_XY=0.249844;gnomADv4_1_AN_grpmax_joint=37298;gnomADv4_1_AN_joint=144828;gnomADv4_1_AN_joint_XX=74176;gnomADv4_1_AN_joint_XY=70652;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4811;gnomADv4_1_nhomalt_joint_XX=2583;gnomADv4_1_nhomalt_joint_XY=2228;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2711412 chrX_2711411_AT_A;chrX_2711412_TTA_T TTA T 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.378;CADDIndel_Rawscore=-0.263479;CSQ=-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-2997_68-2996del|||||||rs755577680||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-2997_68-2996del|||||||rs755577680||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-2997_68-2996del|||||||rs755577680||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-2997_197-2996del|||||||rs755577680||1||HGNC|HGNC:7082|5||||||||Ensembl||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-2997_68-2996del|||||||rs755577680||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-2997_68-2996del|||||||rs755577680||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-2997_68-2996del|||||||rs755577680||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-2997_68-2996del|||||||rs755577680||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-2997_134-2996del|||||||rs755577680||1||HGNC|HGNC:7082|||||||||Ensembl||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-2997_103-2996del|||||||rs755577680||1||HGNC|HGNC:7082|||||||||Ensembl||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-2997_137-2996del|||||||rs755577680||1||HGNC|HGNC:7082|||||||||Ensembl||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-2997_68-2996del|||||||rs755577680||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-2997_68-2996del|||||||rs755577680||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-2997_68-2996del|||||||rs755577680||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-2997_68-2996del|||||||rs755577680||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-2997_68-2996del|||||||rs755577680||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-2997_68-2996del|||||||rs755577680||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-2997_134-2996del|||||||rs755577680||1||EntrezGene|HGNC:7082|||||||||RefSeq||TA|TA|||12|chrX:g.2711425_2711426del|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|-27|-42|-40|-25;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1903;gnomADv4_1_AC_joint_XX=1080;gnomADv4_1_AC_joint_XY=823;gnomADv4_1_AF_grpmax_joint=0.0342575;gnomADv4_1_AF_joint=0.0220382;gnomADv4_1_AF_joint_XX=0.0245589;gnomADv4_1_AF_joint_XY=0.0194223;gnomADv4_1_AN_grpmax_joint=40254;gnomADv4_1_AN_joint=86350;gnomADv4_1_AN_joint_XX=43976;gnomADv4_1_AN_joint_XY=42374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=18;gnomADv4_1_nhomalt_joint_XX=12;gnomADv4_1_nhomalt_joint_XY=6;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2712340 chrX_2712340_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.086;CADD_Rawscore=-0.652017;CSQ=A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-2082G>A|||||||rs28371882||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2712340G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-2082G>A|||||||rs28371882||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2712340G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-2082G>A|||||||rs28371882||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2712340G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-2082G>A|||||||rs28371882||1||HGNC|HGNC:7082|5||||||||Ensembl||G|G||||chrX:g.2712340G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-2082G>A|||||||rs28371882||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2712340G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-2082G>A|||||||rs28371882||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2712340G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-2082G>A|||||||rs28371882||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2712340G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-2082G>A|||||||rs28371882||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2712340G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-2082G>A|||||||rs28371882||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2712340G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-2082G>A|||||||rs28371882||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2712340G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-2082G>A|||||||rs28371882||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2712340G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-2082G>A|||||||rs28371882||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2712340G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-2082G>A|||||||rs28371882||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2712340G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-2082G>A|||||||rs28371882||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2712340G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-2082G>A|||||||rs28371882||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2712340G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-2082G>A|||||||rs28371882||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2712340G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-2082G>A|||||||rs28371882||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2712340G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-2082G>A|||||||rs28371882||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2712340G>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|-6|-24|-7|-15;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31339;gnomADv4_1_AC_joint_XX=16123;gnomADv4_1_AC_joint_XY=15216;gnomADv4_1_AF_grpmax_joint=0.282313;gnomADv4_1_AF_joint=0.206384;gnomADv4_1_AF_joint_XX=0.207615;gnomADv4_1_AF_joint_XY=0.205095;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151848;gnomADv4_1_AN_joint_XX=77658;gnomADv4_1_AN_joint_XY=74190;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3424;gnomADv4_1_nhomalt_joint_XX=1775;gnomADv4_1_nhomalt_joint_XY=1649;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2712422 chrX_2712422_GA_G GA G 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADDIndel_PHREDscore=0.773;CADDIndel_Rawscore=-0.083733;CSQ=-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-1992del|||||||rs34956282||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A|||7|chrX:g.2712430del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-1992del|||||||rs34956282||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A|||7|chrX:g.2712430del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-1992del|||||||rs34956282||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A|||7|chrX:g.2712430del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-1992del|||||||rs34956282||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A|||7|chrX:g.2712430del|||||||||||||,-|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs34956282|4951|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2712430del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-1992del|||||||rs34956282||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A|||7|chrX:g.2712430del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-1992del|||||||rs34956282||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A|||7|chrX:g.2712430del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-1992del|||||||rs34956282||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A|||7|chrX:g.2712430del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-1992del|||||||rs34956282||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A|||7|chrX:g.2712430del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-1992del|||||||rs34956282||1||HGNC|HGNC:7082|||||||||Ensembl||A|A|||7|chrX:g.2712430del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-1992del|||||||rs34956282||1||HGNC|HGNC:7082|||||||||Ensembl||A|A|||7|chrX:g.2712430del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-1992del|||||||rs34956282||1||HGNC|HGNC:7082|||||||||Ensembl||A|A|||7|chrX:g.2712430del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-1992del|||||||rs34956282||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A|||7|chrX:g.2712430del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-1992del|||||||rs34956282||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A|||7|chrX:g.2712430del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-1992del|||||||rs34956282||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A|||7|chrX:g.2712430del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-1992del|||||||rs34956282||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A|||7|chrX:g.2712430del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-1992del|||||||rs34956282||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A|||7|chrX:g.2712430del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-1992del|||||||rs34956282||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A|||7|chrX:g.2712430del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-1992del|||||||rs34956282||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A|||7|chrX:g.2712430del|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-21|32|-10|-17;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61599;gnomADv4_1_AC_joint_XX=30665;gnomADv4_1_AC_joint_XY=30934;gnomADv4_1_AF_grpmax_joint=0.525416;gnomADv4_1_AF_joint=0.406943;gnomADv4_1_AF_joint_XX=0.395565;gnomADv4_1_AF_joint_XY=0.418887;gnomADv4_1_AN_grpmax_joint=67792;gnomADv4_1_AN_joint=151370;gnomADv4_1_AN_joint_XX=77522;gnomADv4_1_AN_joint_XY=73848;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14171;gnomADv4_1_nhomalt_joint_XX=6929;gnomADv4_1_nhomalt_joint_XY=7242;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2712480 chrX_2712480_G_A G A 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.77;CADD_Rawscore=-0.084925;CSQ=A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-1942G>A|||||||rs55999924||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2712480G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-1942G>A|||||||rs55999924||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2712480G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-1942G>A|||||||rs55999924||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2712480G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-1942G>A|||||||rs55999924||1||HGNC|HGNC:7082|5||||||||Ensembl||G|G||||chrX:g.2712480G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs55999924|4894|1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2712480G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-1942G>A|||||||rs55999924||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2712480G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-1942G>A|||||||rs55999924||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2712480G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-1942G>A|||||||rs55999924||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2712480G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-1942G>A|||||||rs55999924||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2712480G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-1942G>A|||||||rs55999924||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2712480G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-1942G>A|||||||rs55999924||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2712480G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-1942G>A|||||||rs55999924||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2712480G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-1942G>A|||||||rs55999924||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2712480G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-1942G>A|||||||rs55999924||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2712480G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-1942G>A|||||||rs55999924||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2712480G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-1942G>A|||||||rs55999924||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2712480G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-1942G>A|||||||rs55999924||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2712480G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-1942G>A|||||||rs55999924||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2712480G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-1942G>A|||||||rs55999924||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2712480G>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|-26|-12|45|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61967;gnomADv4_1_AC_joint_XX=30835;gnomADv4_1_AC_joint_XY=31132;gnomADv4_1_AF_grpmax_joint=0.525021;gnomADv4_1_AF_joint=0.408322;gnomADv4_1_AF_joint_XX=0.397143;gnomADv4_1_AF_joint_XY=0.420033;gnomADv4_1_AN_grpmax_joint=67904;gnomADv4_1_AN_joint=151760;gnomADv4_1_AN_joint_XX=77642;gnomADv4_1_AN_joint_XY=74118;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14244;gnomADv4_1_nhomalt_joint_XX=6958;gnomADv4_1_nhomalt_joint_XY=7286;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2712579 chrX_2712579_A_G A G 56 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=0.112;CADD_Rawscore=-0.580935;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-1843A>G|||||||rs311066||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2712579A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-1843A>G|||||||rs311066||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2712579A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-1843A>G|||||||rs311066||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2712579A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-1843A>G|||||||rs311066||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2712579A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs311066|4795|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2712579A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-1843A>G|||||||rs311066||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2712579A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-1843A>G|||||||rs311066||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2712579A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-1843A>G|||||||rs311066||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2712579A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-1843A>G|||||||rs311066||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2712579A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-1843A>G|||||||rs311066||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2712579A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-1843A>G|||||||rs311066||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2712579A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-1843A>G|||||||rs311066||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2712579A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-1843A>G|||||||rs311066||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2712579A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-1843A>G|||||||rs311066||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2712579A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-1843A>G|||||||rs311066||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2712579A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-1843A>G|||||||rs311066||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2712579A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-1843A>G|||||||rs311066||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2712579A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-1843A>G|||||||rs311066||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2712579A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-1843A>G|||||||rs311066||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2712579A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-37|9|38|13;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=121589;gnomADv4_1_AC_joint_XX=61788;gnomADv4_1_AC_joint_XY=59801;gnomADv4_1_AF_grpmax_joint=0.83749;gnomADv4_1_AF_joint=0.800475;gnomADv4_1_AF_joint_XX=0.795151;gnomADv4_1_AF_joint_XY=0.806052;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=151896;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=74190;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=48727;gnomADv4_1_nhomalt_joint_XX=24645;gnomADv4_1_nhomalt_joint_XY=24082;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2712994 chrX_2712994_A_G A G 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=1.773;CADD_Rawscore=0.132041;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-1428A>G|||||||rs311067||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2712994A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-1428A>G|||||||rs311067||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2712994A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-1428A>G|||||||rs311067||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2712994A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-1428A>G|||||||rs311067||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2712994A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs311067|4380|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2712994A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-1428A>G|||||||rs311067||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2712994A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-1428A>G|||||||rs311067||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2712994A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-1428A>G|||||||rs311067||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2712994A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-1428A>G|||||||rs311067||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2712994A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-1428A>G|||||||rs311067||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2712994A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-1428A>G|||||||rs311067||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2712994A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-1428A>G|||||||rs311067||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2712994A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-1428A>G|||||||rs311067||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2712994A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-1428A>G|||||||rs311067||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2712994A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-1428A>G|||||||rs311067||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2712994A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-1428A>G|||||||rs311067||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2712994A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-1428A>G|||||||rs311067||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2712994A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-1428A>G|||||||rs311067||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2712994A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-1428A>G|||||||rs311067||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2712994A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|1|18|17|6;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56313;gnomADv4_1_AC_joint_XX=29315;gnomADv4_1_AC_joint_XY=26998;gnomADv4_1_AF_grpmax_joint=0.582018;gnomADv4_1_AF_joint=0.371649;gnomADv4_1_AF_joint_XX=0.378268;gnomADv4_1_AF_joint_XY=0.36472;gnomADv4_1_AN_grpmax_joint=41296;gnomADv4_1_AN_joint=151522;gnomADv4_1_AN_joint_XX=77498;gnomADv4_1_AN_joint_XY=74024;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11897;gnomADv4_1_nhomalt_joint_XX=6322;gnomADv4_1_nhomalt_joint_XY=5575;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2713131 chrX_2713131_TACAC_T;chrX_2713131_T_G TACAC T 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=1.644;CADDIndel_Rawscore=0.112193;CSQ=-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-1285_68-1282del|||||||rs59024224||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-1285_68-1282del|||||||rs59024224||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-1285_68-1282del|||||||rs59024224||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-1285_197-1282del|||||||rs59024224||1||HGNC|HGNC:7082|5||||||||Ensembl||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||,-|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs59024224|4239|1||HGNC|HGNC:7082|2||||||||Ensembl||ACAC|ACAC||||chrX:g.2713137_2713140del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-1285_68-1282del|||||||rs59024224||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-1285_68-1282del|||||||rs59024224||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-1285_68-1282del|||||||rs59024224||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-1285_68-1282del|||||||rs59024224||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-1285_134-1282del|||||||rs59024224||1||HGNC|HGNC:7082|||||||||Ensembl||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-1285_103-1282del|||||||rs59024224||1||HGNC|HGNC:7082|||||||||Ensembl||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-1285_137-1282del|||||||rs59024224||1||HGNC|HGNC:7082|||||||||Ensembl||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-1285_68-1282del|||||||rs59024224||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-1285_68-1282del|||||||rs59024224||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-1285_68-1282del|||||||rs59024224||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-1285_68-1282del|||||||rs59024224||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-1285_68-1282del|||||||rs59024224||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-1285_68-1282del|||||||rs59024224||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-1285_134-1282del|||||||rs59024224||1||EntrezGene|HGNC:7082|||||||||RefSeq||ACAC|ACAC|||5|chrX:g.2713137_2713140del|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|17|35|-25|18;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56295;gnomADv4_1_AC_joint_XX=29356;gnomADv4_1_AC_joint_XY=26939;gnomADv4_1_AF_grpmax_joint=0.587838;gnomADv4_1_AF_joint=0.372578;gnomADv4_1_AF_joint_XX=0.379561;gnomADv4_1_AF_joint_XY=0.365255;gnomADv4_1_AN_grpmax_joint=41110;gnomADv4_1_AN_joint=151096;gnomADv4_1_AN_joint_XX=77342;gnomADv4_1_AN_joint_XY=73754;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11931;gnomADv4_1_nhomalt_joint_XX=6360;gnomADv4_1_nhomalt_joint_XY=5571;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2713131 chrX_2713131_TACAC_T;chrX_2713131_T_G T G 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=5.045;CADD_Rawscore=0.460079;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-1291T>G|||||||rs762475899||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2713131T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-1291T>G|||||||rs762475899||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2713131T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-1291T>G|||||||rs762475899||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2713131T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-1291T>G|||||||rs762475899||1||HGNC|HGNC:7082|5||||||||Ensembl||T|T||||chrX:g.2713131T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs762475899|4243|1||HGNC|HGNC:7082|2||||||||Ensembl||T|T||||chrX:g.2713131T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-1291T>G|||||||rs762475899||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2713131T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-1291T>G|||||||rs762475899||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2713131T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-1291T>G|||||||rs762475899||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2713131T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-1291T>G|||||||rs762475899||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2713131T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-1291T>G|||||||rs762475899||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2713131T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-1291T>G|||||||rs762475899||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2713131T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-1291T>G|||||||rs762475899||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2713131T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-1291T>G|||||||rs762475899||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2713131T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-1291T>G|||||||rs762475899||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2713131T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-1291T>G|||||||rs762475899||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2713131T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-1291T>G|||||||rs762475899||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2713131T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-1291T>G|||||||rs762475899||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2713131T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-1291T>G|||||||rs762475899||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2713131T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-1291T>G|||||||rs762475899||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2713131T>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|1|35|44|8;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=96;gnomADv4_1_AC_joint_XX=32;gnomADv4_1_AC_joint_XY=64;gnomADv4_1_AF_grpmax_joint=0.0106383;gnomADv4_1_AF_joint=0.000634761;gnomADv4_1_AF_joint_XX=0.000413437;gnomADv4_1_AF_joint_XY=0.000866762;gnomADv4_1_AN_grpmax_joint=282;gnomADv4_1_AN_joint=151238;gnomADv4_1_AN_joint_XX=77400;gnomADv4_1_AN_joint_XY=73838;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2713315 chrX_2713315_AAC_A AAC A 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.815;CADDIndel_Rawscore=-0.07026;CSQ=-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-1102_68-1101del|||||||rs34576945||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-1102_68-1101del|||||||rs34576945||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-1102_68-1101del|||||||rs34576945||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-1102_197-1101del|||||||rs34576945||1||HGNC|HGNC:7082|5||||||||Ensembl||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||,-|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs34576945|4057|1||HGNC|HGNC:7082|2||||||||Ensembl||AC|AC||||chrX:g.2713320_2713321del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-1102_68-1101del|||||||rs34576945||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-1102_68-1101del|||||||rs34576945||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-1102_68-1101del|||||||rs34576945||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-1102_68-1101del|||||||rs34576945||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-1102_134-1101del|||||||rs34576945||1||HGNC|HGNC:7082|||||||||Ensembl||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-1102_103-1101del|||||||rs34576945||1||HGNC|HGNC:7082|||||||||Ensembl||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-1102_137-1101del|||||||rs34576945||1||HGNC|HGNC:7082|||||||||Ensembl||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-1102_68-1101del|||||||rs34576945||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-1102_68-1101del|||||||rs34576945||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-1102_68-1101del|||||||rs34576945||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-1102_68-1101del|||||||rs34576945||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-1102_68-1101del|||||||rs34576945||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-1102_68-1101del|||||||rs34576945||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-1102_134-1101del|||||||rs34576945||1||EntrezGene|HGNC:7082|||||||||RefSeq||AC|AC|||4|chrX:g.2713320_2713321del|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|-8|18|-41|-45;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60883;gnomADv4_1_AC_joint_XX=30263;gnomADv4_1_AC_joint_XY=30620;gnomADv4_1_AF_grpmax_joint=0.521029;gnomADv4_1_AF_joint=0.402442;gnomADv4_1_AF_joint_XX=0.390753;gnomADv4_1_AF_joint_XY=0.414703;gnomADv4_1_AN_grpmax_joint=67762;gnomADv4_1_AN_joint=151284;gnomADv4_1_AN_joint_XX=77448;gnomADv4_1_AN_joint_XY=73836;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13876;gnomADv4_1_nhomalt_joint_XX=6762;gnomADv4_1_nhomalt_joint_XY=7114;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2713400 chrX_2713400_CACAT_C CACAT C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.493;CADDIndel_Rawscore=-0.19685;CSQ=-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-1017_68-1014del|||||||rs10591905||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-1017_68-1014del|||||||rs10591905||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-1017_68-1014del|||||||rs10591905||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-1017_197-1014del|||||||rs10591905||1||HGNC|HGNC:7082|5||||||||Ensembl||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||,-|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs10591905|3970|1||HGNC|HGNC:7082|2||||||||Ensembl||ACAT|ACAT||||chrX:g.2713405_2713408del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-1017_68-1014del|||||||rs10591905||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-1017_68-1014del|||||||rs10591905||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-1017_68-1014del|||||||rs10591905||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-1017_68-1014del|||||||rs10591905||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-1017_134-1014del|||||||rs10591905||1||HGNC|HGNC:7082|||||||||Ensembl||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-1017_103-1014del|||||||rs10591905||1||HGNC|HGNC:7082|||||||||Ensembl||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-1017_137-1014del|||||||rs10591905||1||HGNC|HGNC:7082|||||||||Ensembl||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-1017_68-1014del|||||||rs10591905||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-1017_68-1014del|||||||rs10591905||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-1017_68-1014del|||||||rs10591905||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-1017_68-1014del|||||||rs10591905||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-1017_68-1014del|||||||rs10591905||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-1017_68-1014del|||||||rs10591905||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-1017_134-1014del|||||||rs10591905||1||EntrezGene|HGNC:7082|||||||||RefSeq||ACAT|ACAT|||4|chrX:g.2713405_2713408del|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|7|3|-14|2;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56206;gnomADv4_1_AC_joint_XX=29291;gnomADv4_1_AC_joint_XY=26915;gnomADv4_1_AF_grpmax_joint=0.585968;gnomADv4_1_AF_joint=0.371325;gnomADv4_1_AF_joint_XX=0.378251;gnomADv4_1_AF_joint_XY=0.36407;gnomADv4_1_AN_grpmax_joint=41120;gnomADv4_1_AN_joint=151366;gnomADv4_1_AN_joint_XX=77438;gnomADv4_1_AN_joint_XY=73928;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11902;gnomADv4_1_nhomalt_joint_XX=6335;gnomADv4_1_nhomalt_joint_XY=5567;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2713459 chrX_2713459_T_C T C 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.788;CADD_Rawscore=-0.078795;CSQ=C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-963T>C|||||||rs311069||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2713459T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-963T>C|||||||rs311069||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2713459T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-963T>C|||||||rs311069||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2713459T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-963T>C|||||||rs311069||1||HGNC|HGNC:7082|5||||||||Ensembl||T|T||||chrX:g.2713459T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs311069|3915|1||HGNC|HGNC:7082|2||||||||Ensembl||T|T||||chrX:g.2713459T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-963T>C|||||||rs311069||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2713459T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-963T>C|||||||rs311069||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2713459T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-963T>C|||||||rs311069||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2713459T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-963T>C|||||||rs311069||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2713459T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-963T>C|||||||rs311069||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2713459T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-963T>C|||||||rs311069||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2713459T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-963T>C|||||||rs311069||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2713459T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-963T>C|||||||rs311069||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2713459T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-963T>C|||||||rs311069||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2713459T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-963T>C|||||||rs311069||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2713459T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-963T>C|||||||rs311069||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2713459T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-963T>C|||||||rs311069||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2713459T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-963T>C|||||||rs311069||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2713459T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-963T>C|||||||rs311069||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2713459T>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|-3|12|43|14;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57765;gnomADv4_1_AC_joint_XX=30192;gnomADv4_1_AC_joint_XY=27573;gnomADv4_1_AF_grpmax_joint=0.615128;gnomADv4_1_AF_joint=0.380935;gnomADv4_1_AF_joint_XX=0.389132;gnomADv4_1_AF_joint_XY=0.372346;gnomADv4_1_AN_grpmax_joint=41302;gnomADv4_1_AN_joint=151640;gnomADv4_1_AN_joint_XX=77588;gnomADv4_1_AN_joint_XY=74052;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=12750;gnomADv4_1_nhomalt_joint_XX=6848;gnomADv4_1_nhomalt_joint_XY=5902;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2714148 chrX_2714148_A_G A G 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=2.542;CADD_Rawscore=0.22824;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-274A>G|||||||rs28635250||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2714148A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-274A>G|||||||rs28635250||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2714148A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-274A>G|||||||rs28635250||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2714148A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-274A>G|||||||rs28635250||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2714148A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs28635250|3226|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2714148A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-274A>G|||||||rs28635250||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2714148A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs28635250|4920|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2714148A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-274A>G|||||||rs28635250||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2714148A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-274A>G|||||||rs28635250||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2714148A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-274A>G|||||||rs28635250||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2714148A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-274A>G|||||||rs28635250||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2714148A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-274A>G|||||||rs28635250||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2714148A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-274A>G|||||||rs28635250||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2714148A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-274A>G|||||||rs28635250||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2714148A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-274A>G|||||||rs28635250||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2714148A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-274A>G|||||||rs28635250||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2714148A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-274A>G|||||||rs28635250||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2714148A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-274A>G|||||||rs28635250||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2714148A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-274A>G|||||||rs28635250||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2714148A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-274A>G|||||||rs28635250||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2714148A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-1|-16|-1|-8;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50862;gnomADv4_1_AC_joint_XX=26276;gnomADv4_1_AC_joint_XY=24586;gnomADv4_1_AF_grpmax_joint=0.476016;gnomADv4_1_AF_joint=0.334627;gnomADv4_1_AF_joint_XX=0.338129;gnomADv4_1_AF_joint_XY=0.330964;gnomADv4_1_AN_grpmax_joint=41444;gnomADv4_1_AN_joint=151996;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9215;gnomADv4_1_nhomalt_joint_XX=4835;gnomADv4_1_nhomalt_joint_XY=4380;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2714231 chrX_2714231_A_T A T 48 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=1.881;CADD_Rawscore=0.147728;CSQ=T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||1/9|ENST00000381184.6:c.68-191A>T|||||||rs311070||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2714231A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||1/8|ENST00000381187.8:c.68-191A>T|||||||rs311070||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2714231A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||1/9|ENST00000381192.10:c.68-191A>T|||||||rs311070||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2714231A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||1/7|ENST00000449611.6:n.197-191A>T|||||||rs311070||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2714231A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs311070|3143|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2714231A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||1/8|ENST00000482405.7:c.68-191A>T|||||||rs311070||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2714231A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs311070|4837|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2714231A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||1/10|ENST00000611428.5:c.68-191A>T|||||||rs311070||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2714231A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||1/10|ENST00000623253.4:c.68-191A>T|||||||rs311070||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2714231A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||1/9|ENST00000624481.4:c.68-191A>T|||||||rs311070||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2714231A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||1/6|ENST00000645950.1:n.134-191A>T|||||||rs311070||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2714231A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||1/1|ENST00000646103.1:n.103-191A>T|||||||rs311070||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2714231A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||1/2|ENST00000647297.1:n.137-191A>T|||||||rs311070||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2714231A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||1/8|NM_001122898.3:c.68-191A>T|||||||rs311070||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2714231A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||1/8|NM_001321367.2:c.68-191A>T|||||||rs311070||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2714231A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||1/9|NM_001321368.2:c.68-191A>T|||||||rs311070||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2714231A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||1/8|NM_001321369.2:c.68-191A>T|||||||rs311070||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2714231A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||1/8|NM_001321370.2:c.68-191A>T|||||||rs311070||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2714231A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||1/9|NM_002414.5:c.68-191A>T|||||||rs311070||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2714231A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||1/10|NR_135623.2:n.134-191A>T|||||||rs311070||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2714231A>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|-4|18|-4|-28;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57919;gnomADv4_1_AC_joint_XX=30257;gnomADv4_1_AC_joint_XY=27662;gnomADv4_1_AF_grpmax_joint=0.596028;gnomADv4_1_AF_joint=0.369386;gnomADv4_1_AF_joint_XX=0.377053;gnomADv4_1_AF_joint_XY=0.361349;gnomADv4_1_AN_grpmax_joint=41592;gnomADv4_1_AN_joint=156798;gnomADv4_1_AN_joint_XX=80246;gnomADv4_1_AN_joint_XY=76552;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=12299;gnomADv4_1_nhomalt_joint_XX=6566;gnomADv4_1_nhomalt_joint_XY=5733;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2714441 chrX_2714441_C_T C T 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.484;CADD_Rawscore=-0.201351;CSQ=T|synonymous_variant|LOW|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding|2/10||ENST00000381184.6%3Ac.87C>T|ENSP00000370579.1%3Ap.Ser29%3D|168|87|29|S|tcC/tcT|rs1136447||1||HGNC|HGNC%3A7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX%3Ag.2714441C>T|||||||||||||,T|synonymous_variant|LOW|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding|2/9||ENST00000381187.8%3Ac.87C>T|ENSP00000370582.3%3Ap.Ser29%3D|172|87|29|S|tcC/tcT|rs1136447||1||HGNC|HGNC%3A7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX%3Ag.2714441C>T|||||||||||||,T|synonymous_variant|LOW|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding|2/10||ENST00000381192.10%3Ac.87C>T|ENSP00000370588.3%3Ap.Ser29%3D|153|87|29|S|tcC/tcT|rs1136447||1||HGNC|HGNC%3A7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX%3Ag.2714441C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined|2/8||ENST00000449611.6:n.216C>T||216|||||rs1136447||1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2714441C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs1136447|2933|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2714441C>T|||||||||||||,T|synonymous_variant|LOW|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding|2/9||ENST00000482405.7%3Ac.87C>T|ENSP00000494027.1%3Ap.Ser29%3D|138|87|29|S|tcC/tcT|rs1136447||1||HGNC|HGNC%3A7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX%3Ag.2714441C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs1136447|4627|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2714441C>T|||||||||||||,T|synonymous_variant|LOW|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding|2/11||ENST00000611428.5%3Ac.87C>T|ENSP00000479999.1%3Ap.Ser29%3D|261|87|29|S|tcC/tcT|rs1136447||1||HGNC|HGNC%3A7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX%3Ag.2714441C>T|||||||||||||,T|synonymous_variant&NMD_transcript_variant|LOW|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay|2/11||ENST00000623253.4%3Ac.87C>T|ENSP00000485545.1%3Ap.Ser29%3D|87|87|29|S|tcC/tcT|rs1136447||1||HGNC|HGNC%3A7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX%3Ag.2714441C>T|||||||||||||,T|synonymous_variant|LOW|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding|2/10||ENST00000624481.4%3Ac.87C>T|ENSP00000485427.1%3Ap.Ser29%3D|135|87|29|S|tcC/tcT|rs1136447||1||HGNC|HGNC%3A7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX%3Ag.2714441C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron|2/7||ENST00000645950.1:n.153C>T||153|||||rs1136447||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2714441C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron|2/2||ENST00000646103.1:n.122C>T||122|||||rs1136447||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2714441C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron|2/3||ENST00000647297.1:n.156C>T||156|||||rs1136447||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2714441C>T|||||||||||||,T|synonymous_variant|LOW|CD99|4267|Transcript|NM_001122898.3|protein_coding|2/9||NM_001122898.3%3Ac.87C>T|NP_001116370.1%3Ap.Ser29%3D|153|87|29|S|tcC/tcT|rs1136447||1||EntrezGene|HGNC%3A7082|||NP_001116370.1||||||RefSeq||C|C||||chrX%3Ag.2714441C>T|||||||||||||,T|synonymous_variant|LOW|CD99|4267|Transcript|NM_001321367.2|protein_coding|2/9||NM_001321367.2%3Ac.87C>T|NP_001308296.1%3Ap.Ser29%3D|153|87|29|S|tcC/tcT|rs1136447||1||EntrezGene|HGNC%3A7082|||NP_001308296.1||||||RefSeq||C|C||||chrX%3Ag.2714441C>T|||||||||||||,T|synonymous_variant|LOW|CD99|4267|Transcript|NM_001321368.2|protein_coding|2/10||NM_001321368.2%3Ac.87C>T|NP_001308297.1%3Ap.Ser29%3D|153|87|29|S|tcC/tcT|rs1136447||1||EntrezGene|HGNC%3A7082|||NP_001308297.1||||||RefSeq||C|C||||chrX%3Ag.2714441C>T|||||||||||||,T|synonymous_variant|LOW|CD99|4267|Transcript|NM_001321369.2|protein_coding|2/9||NM_001321369.2%3Ac.87C>T|NP_001308298.1%3Ap.Ser29%3D|153|87|29|S|tcC/tcT|rs1136447||1||EntrezGene|HGNC%3A7082|||NP_001308298.1||||||RefSeq||C|C||||chrX%3Ag.2714441C>T|||||||||||||,T|synonymous_variant|LOW|CD99|4267|Transcript|NM_001321370.2|protein_coding|2/9||NM_001321370.2%3Ac.87C>T|NP_001308299.1%3Ap.Ser29%3D|153|87|29|S|tcC/tcT|rs1136447||1||EntrezGene|HGNC%3A7082|||NP_001308299.1||||||RefSeq||C|C||||chrX%3Ag.2714441C>T|||||||||||||,T|synonymous_variant|LOW|CD99|4267|Transcript|NM_002414.5|protein_coding|2/10||NM_002414.5%3Ac.87C>T|NP_002405.1%3Ap.Ser29%3D|153|87|29|S|tcC/tcT|rs1136447||1||EntrezGene|HGNC%3A7082|||NP_002405.1||||||RefSeq||C|C||||chrX%3Ag.2714441C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA|2/11||NR_135623.2:n.153C>T||153|||||rs1136447||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2714441C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|-42|-19|12|13;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=748079;gnomADv4_1_AC_joint_XX=370633;gnomADv4_1_AC_joint_XY=377446;gnomADv4_1_AF_grpmax_joint=0.512722;gnomADv4_1_AF_joint=0.47101;gnomADv4_1_AF_joint_XX=0.463649;gnomADv4_1_AF_joint_XY=0.478468;gnomADv4_1_AN_grpmax_joint=1159428;gnomADv4_1_AN_joint=1588246;gnomADv4_1_AN_joint_XX=799382;gnomADv4_1_AN_joint_XY=788864;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=185305;gnomADv4_1_nhomalt_joint_XX=90930;gnomADv4_1_nhomalt_joint_XY=94375;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2714781 chrX_2714781_G_A G A 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.197;CADD_Rawscore=0.029045;CSQ=A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||2/9|ENST00000381184.6:c.100+327G>A|||||||rs311071||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2714781G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.100+327G>A|||||||rs311071||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2714781G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||2/9|ENST00000381192.10:c.100+327G>A|||||||rs311071||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2714781G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||2/7|ENST00000449611.6:n.229+327G>A|||||||rs311071||1||HGNC|HGNC:7082|5||||||||Ensembl||G|G||||chrX:g.2714781G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs311071|2593|1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2714781G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||2/8|ENST00000482405.7:c.100+327G>A|||||||rs311071||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2714781G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs311071|4287|1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2714781G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||2/10|ENST00000611428.5:c.100+327G>A|||||||rs311071||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2714781G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||2/10|ENST00000623253.4:c.100+327G>A|||||||rs311071||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2714781G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||2/9|ENST00000624481.4:c.100+327G>A|||||||rs311071||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2714781G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||2/6|ENST00000645950.1:n.166+327G>A|||||||rs311071||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2714781G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron|2/2||ENST00000646103.1:n.462G>A||462|||||rs311071||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2714781G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||2/2|ENST00000647297.1:n.169+327G>A|||||||rs311071||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2714781G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.100+327G>A|||||||rs311071||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2714781G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||2/8|NM_001321367.2:c.100+327G>A|||||||rs311071||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2714781G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||2/9|NM_001321368.2:c.100+327G>A|||||||rs311071||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2714781G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.100+327G>A|||||||rs311071||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2714781G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||2/8|NM_001321370.2:c.100+327G>A|||||||rs311071||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2714781G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||2/9|NM_002414.5:c.100+327G>A|||||||rs311071||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2714781G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||2/10|NR_135623.2:n.166+327G>A|||||||rs311071||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2714781G>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|-11|0|-11|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=95069;gnomADv4_1_AC_joint_XX=48914;gnomADv4_1_AC_joint_XY=46155;gnomADv4_1_AF_grpmax_joint=0.582788;gnomADv4_1_AF_joint=0.353044;gnomADv4_1_AF_joint_XX=0.358239;gnomADv4_1_AF_joint_XY=0.347699;gnomADv4_1_AN_grpmax_joint=46166;gnomADv4_1_AN_joint=269284;gnomADv4_1_AN_joint_XX=136540;gnomADv4_1_AN_joint_XY=132744;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18490;gnomADv4_1_nhomalt_joint_XX=9659;gnomADv4_1_nhomalt_joint_XY=8831;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2715210 chrX_2715210_C_CT C CT 52 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADDIndel_PHREDscore=1.467;CADDIndel_Rawscore=0.082316;CSQ=T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||2/9|ENST00000381184.6:c.100+757dup|||||||rs35281537||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||1|chrX:g.2715211dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.100+757dup|||||||rs35281537||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||1|chrX:g.2715211dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||2/9|ENST00000381192.10:c.100+757dup|||||||rs35281537||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||1|chrX:g.2715211dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||2/7|ENST00000449611.6:n.229+757dup|||||||rs35281537||1||HGNC|HGNC:7082|5||||||||Ensembl||||||1|chrX:g.2715211dup|||||||||||||,T|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs35281537|2163|1||HGNC|HGNC:7082|2||||||||Ensembl|||||||chrX:g.2715211dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||2/8|ENST00000482405.7:c.100+757dup|||||||rs35281537||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||1|chrX:g.2715211dup|||||||||||||,T|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs35281537|3857|1||HGNC|HGNC:7082|2||||||||Ensembl|||||||chrX:g.2715211dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||2/10|ENST00000611428.5:c.100+757dup|||||||rs35281537||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||1|chrX:g.2715211dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||2/10|ENST00000623253.4:c.100+757dup|||||||rs35281537||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||1|chrX:g.2715211dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||2/9|ENST00000624481.4:c.100+757dup|||||||rs35281537||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||1|chrX:g.2715211dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||2/6|ENST00000645950.1:n.166+757dup|||||||rs35281537||1||HGNC|HGNC:7082|||||||||Ensembl||||||1|chrX:g.2715211dup|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron|2/2||ENST00000646103.1:n.892dup||891-892|||||rs35281537||1||HGNC|HGNC:7082|||||||||Ensembl||||||1|chrX:g.2715211dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||2/2|ENST00000647297.1:n.169+757dup|||||||rs35281537||1||HGNC|HGNC:7082|||||||||Ensembl||||||1|chrX:g.2715211dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.100+757dup|||||||rs35281537||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||1|chrX:g.2715211dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||2/8|NM_001321367.2:c.100+757dup|||||||rs35281537||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||1|chrX:g.2715211dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||2/9|NM_001321368.2:c.100+757dup|||||||rs35281537||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||1|chrX:g.2715211dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.100+757dup|||||||rs35281537||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||1|chrX:g.2715211dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||2/8|NM_001321370.2:c.100+757dup|||||||rs35281537||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||1|chrX:g.2715211dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||2/9|NM_002414.5:c.100+757dup|||||||rs35281537||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||1|chrX:g.2715211dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||2/10|NR_135623.2:n.166+757dup|||||||rs35281537||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||1|chrX:g.2715211dup|||||||||||||;SpliceAI=CT|CD99|0.00|0.00|0.00|0.00|7|19|0|13;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64042;gnomADv4_1_AC_joint_XX=32134;gnomADv4_1_AC_joint_XY=31908;gnomADv4_1_AF_grpmax_joint=0.471193;gnomADv4_1_AF_joint=0.421251;gnomADv4_1_AF_joint_XX=0.41331;gnomADv4_1_AF_joint_XY=0.429564;gnomADv4_1_AN_grpmax_joint=67936;gnomADv4_1_AN_joint=152028;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74280;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14080;gnomADv4_1_nhomalt_joint_XX=6889;gnomADv4_1_nhomalt_joint_XY=7191;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chrX 2715212 chrX_2715212_A_G A G 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.039;CADD_Rawscore=-0.871702;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||2/9|ENST00000381184.6:c.100+758A>G|||||||rs6641640||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2715212A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.100+758A>G|||||||rs6641640||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2715212A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||2/9|ENST00000381192.10:c.100+758A>G|||||||rs6641640||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2715212A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||2/7|ENST00000449611.6:n.229+758A>G|||||||rs6641640||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2715212A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs6641640|2162|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2715212A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||2/8|ENST00000482405.7:c.100+758A>G|||||||rs6641640||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2715212A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs6641640|3856|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2715212A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||2/10|ENST00000611428.5:c.100+758A>G|||||||rs6641640||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2715212A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||2/10|ENST00000623253.4:c.100+758A>G|||||||rs6641640||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2715212A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||2/9|ENST00000624481.4:c.100+758A>G|||||||rs6641640||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2715212A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||2/6|ENST00000645950.1:n.166+758A>G|||||||rs6641640||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2715212A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron|2/2||ENST00000646103.1:n.893A>G||893|||||rs6641640||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2715212A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||2/2|ENST00000647297.1:n.169+758A>G|||||||rs6641640||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2715212A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.100+758A>G|||||||rs6641640||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2715212A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||2/8|NM_001321367.2:c.100+758A>G|||||||rs6641640||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2715212A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||2/9|NM_001321368.2:c.100+758A>G|||||||rs6641640||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2715212A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.100+758A>G|||||||rs6641640||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2715212A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||2/8|NM_001321370.2:c.100+758A>G|||||||rs6641640||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2715212A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||2/9|NM_002414.5:c.100+758A>G|||||||rs6641640||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2715212A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||2/10|NR_135623.2:n.166+758A>G|||||||rs6641640||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2715212A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-1|5|-1|11;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20922;gnomADv4_1_AC_joint_XX=10894;gnomADv4_1_AC_joint_XY=10028;gnomADv4_1_AF_grpmax_joint=0.206725;gnomADv4_1_AF_joint=0.140819;gnomADv4_1_AF_joint_XX=0.142996;gnomADv4_1_AF_joint_XY=0.138527;gnomADv4_1_AN_grpmax_joint=14870;gnomADv4_1_AN_joint=148574;gnomADv4_1_AN_joint_XX=76184;gnomADv4_1_AN_joint_XY=72390;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1790;gnomADv4_1_nhomalt_joint_XX=1003;gnomADv4_1_nhomalt_joint_XY=787;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2715566 chrX_2715566_A_G A G 59 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=0.532;CADD_Rawscore=-0.177621;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||2/9|ENST00000381184.6:c.100+1112A>G|||||||rs6567639||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2715566A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.100+1112A>G|||||||rs6567639||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2715566A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||2/9|ENST00000381192.10:c.100+1112A>G|||||||rs6567639||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2715566A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||2/7|ENST00000449611.6:n.229+1112A>G|||||||rs6567639||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2715566A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs6567639|1808|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2715566A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||2/8|ENST00000482405.7:c.100+1112A>G|||||||rs6567639||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2715566A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs6567639|3502|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2715566A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||2/10|ENST00000611428.5:c.100+1112A>G|||||||rs6567639||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2715566A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||2/10|ENST00000623253.4:c.100+1112A>G|||||||rs6567639||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2715566A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||2/9|ENST00000624481.4:c.100+1112A>G|||||||rs6567639||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2715566A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||2/6|ENST00000645950.1:n.166+1112A>G|||||||rs6567639||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2715566A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron|2/2||ENST00000646103.1:n.1247A>G||1247|||||rs6567639||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2715566A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||2/2|ENST00000647297.1:n.169+1112A>G|||||||rs6567639||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2715566A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.100+1112A>G|||||||rs6567639||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2715566A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||2/8|NM_001321367.2:c.100+1112A>G|||||||rs6567639||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2715566A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||2/9|NM_001321368.2:c.100+1112A>G|||||||rs6567639||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2715566A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.100+1112A>G|||||||rs6567639||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2715566A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||2/8|NM_001321370.2:c.100+1112A>G|||||||rs6567639||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2715566A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||2/9|NM_002414.5:c.100+1112A>G|||||||rs6567639||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2715566A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||2/10|NR_135623.2:n.166+1112A>G|||||||rs6567639||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2715566A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-45|23|-45|-31;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74114;gnomADv4_1_AC_joint_XX=38661;gnomADv4_1_AC_joint_XY=35453;gnomADv4_1_AF_grpmax_joint=0.558579;gnomADv4_1_AF_joint=0.48756;gnomADv4_1_AF_joint_XX=0.497363;gnomADv4_1_AF_joint_XY=0.477301;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152010;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74278;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=18331;gnomADv4_1_nhomalt_joint_XX=9735;gnomADv4_1_nhomalt_joint_XY=8596;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chrX 2715583 chrX_2715583_C_G C G 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.33;CADD_Rawscore=-0.297876;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||2/9|ENST00000381184.6:c.100+1129C>G|||||||rs6567640||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2715583C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.100+1129C>G|||||||rs6567640||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2715583C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||2/9|ENST00000381192.10:c.100+1129C>G|||||||rs6567640||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2715583C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||2/7|ENST00000449611.6:n.229+1129C>G|||||||rs6567640||1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2715583C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs6567640|1791|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2715583C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||2/8|ENST00000482405.7:c.100+1129C>G|||||||rs6567640||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2715583C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs6567640|3485|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2715583C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||2/10|ENST00000611428.5:c.100+1129C>G|||||||rs6567640||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2715583C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||2/10|ENST00000623253.4:c.100+1129C>G|||||||rs6567640||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2715583C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||2/9|ENST00000624481.4:c.100+1129C>G|||||||rs6567640||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2715583C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||2/6|ENST00000645950.1:n.166+1129C>G|||||||rs6567640||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2715583C>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron|2/2||ENST00000646103.1:n.1264C>G||1264|||||rs6567640||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2715583C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||2/2|ENST00000647297.1:n.169+1129C>G|||||||rs6567640||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2715583C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.100+1129C>G|||||||rs6567640||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2715583C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||2/8|NM_001321367.2:c.100+1129C>G|||||||rs6567640||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2715583C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||2/9|NM_001321368.2:c.100+1129C>G|||||||rs6567640||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2715583C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.100+1129C>G|||||||rs6567640||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2715583C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||2/8|NM_001321370.2:c.100+1129C>G|||||||rs6567640||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2715583C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||2/9|NM_002414.5:c.100+1129C>G|||||||rs6567640||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2715583C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||2/10|NR_135623.2:n.166+1129C>G|||||||rs6567640||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2715583C>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-41|6|-1|49;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73756;gnomADv4_1_AC_joint_XX=38428;gnomADv4_1_AC_joint_XY=35328;gnomADv4_1_AF_grpmax_joint=0.557564;gnomADv4_1_AF_joint=0.484956;gnomADv4_1_AF_joint_XX=0.494264;gnomADv4_1_AF_joint_XY=0.475222;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=152088;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=18131;gnomADv4_1_nhomalt_joint_XX=9610;gnomADv4_1_nhomalt_joint_XY=8521;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chrX 2715760 chrX_2715760_T_C T C 47 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.378;CADD_Rawscore=-0.263654;CSQ=C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||2/9|ENST00000381184.6:c.100+1306T>C|||||||rs5982579||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2715760T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.100+1306T>C|||||||rs5982579||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2715760T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||2/9|ENST00000381192.10:c.100+1306T>C|||||||rs5982579||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2715760T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||2/7|ENST00000449611.6:n.229+1306T>C|||||||rs5982579||1||HGNC|HGNC:7082|5||||||||Ensembl||T|T||||chrX:g.2715760T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs5982579|1614|1||HGNC|HGNC:7082|2||||||||Ensembl||T|T||||chrX:g.2715760T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||2/8|ENST00000482405.7:c.100+1306T>C|||||||rs5982579||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2715760T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs5982579|3308|1||HGNC|HGNC:7082|2||||||||Ensembl||T|T||||chrX:g.2715760T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||2/10|ENST00000611428.5:c.100+1306T>C|||||||rs5982579||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2715760T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||2/10|ENST00000623253.4:c.100+1306T>C|||||||rs5982579||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2715760T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||2/9|ENST00000624481.4:c.100+1306T>C|||||||rs5982579||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2715760T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||2/6|ENST00000645950.1:n.166+1306T>C|||||||rs5982579||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2715760T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs5982579|163|1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2715760T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||2/2|ENST00000647297.1:n.169+1306T>C|||||||rs5982579||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2715760T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.100+1306T>C|||||||rs5982579||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2715760T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||2/8|NM_001321367.2:c.100+1306T>C|||||||rs5982579||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2715760T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||2/9|NM_001321368.2:c.100+1306T>C|||||||rs5982579||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2715760T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.100+1306T>C|||||||rs5982579||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2715760T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||2/8|NM_001321370.2:c.100+1306T>C|||||||rs5982579||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2715760T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||2/9|NM_002414.5:c.100+1306T>C|||||||rs5982579||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2715760T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||2/10|NR_135623.2:n.166+1306T>C|||||||rs5982579||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2715760T>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|-38|36|31|36;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72646;gnomADv4_1_AC_joint_XX=37538;gnomADv4_1_AC_joint_XY=35108;gnomADv4_1_AF_grpmax_joint=0.573896;gnomADv4_1_AF_joint=0.479385;gnomADv4_1_AF_joint_XX=0.484274;gnomADv4_1_AF_joint_XY=0.474266;gnomADv4_1_AN_grpmax_joint=41274;gnomADv4_1_AN_joint=151540;gnomADv4_1_AN_joint_XX=77514;gnomADv4_1_AN_joint_XY=74026;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17737;gnomADv4_1_nhomalt_joint_XX=9234;gnomADv4_1_nhomalt_joint_XY=8503;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chrX 2715763 chrX_2715763_C_G C G 56 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=1.149;CADD_Rawscore=0.018317;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||2/9|ENST00000381184.6:c.100+1309C>G|||||||rs28808107||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2715763C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.100+1309C>G|||||||rs28808107||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2715763C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||2/9|ENST00000381192.10:c.100+1309C>G|||||||rs28808107||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2715763C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||2/7|ENST00000449611.6:n.229+1309C>G|||||||rs28808107||1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2715763C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs28808107|1611|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2715763C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||2/8|ENST00000482405.7:c.100+1309C>G|||||||rs28808107||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2715763C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs28808107|3305|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2715763C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||2/10|ENST00000611428.5:c.100+1309C>G|||||||rs28808107||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2715763C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||2/10|ENST00000623253.4:c.100+1309C>G|||||||rs28808107||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2715763C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||2/9|ENST00000624481.4:c.100+1309C>G|||||||rs28808107||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2715763C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||2/6|ENST00000645950.1:n.166+1309C>G|||||||rs28808107||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2715763C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs28808107|166|1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2715763C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||2/2|ENST00000647297.1:n.169+1309C>G|||||||rs28808107||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2715763C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.100+1309C>G|||||||rs28808107||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2715763C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||2/8|NM_001321367.2:c.100+1309C>G|||||||rs28808107||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2715763C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||2/9|NM_001321368.2:c.100+1309C>G|||||||rs28808107||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2715763C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.100+1309C>G|||||||rs28808107||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2715763C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||2/8|NM_001321370.2:c.100+1309C>G|||||||rs28808107||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2715763C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||2/9|NM_002414.5:c.100+1309C>G|||||||rs28808107||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2715763C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||2/10|NR_135623.2:n.166+1309C>G|||||||rs28808107||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2715763C>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|1|-41|0|28;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72631;gnomADv4_1_AC_joint_XX=37528;gnomADv4_1_AC_joint_XY=35103;gnomADv4_1_AF_grpmax_joint=0.573884;gnomADv4_1_AF_joint=0.479533;gnomADv4_1_AF_joint_XX=0.484357;gnomADv4_1_AF_joint_XY=0.47448;gnomADv4_1_AN_grpmax_joint=41254;gnomADv4_1_AN_joint=151462;gnomADv4_1_AN_joint_XX=77480;gnomADv4_1_AN_joint_XY=73982;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17735;gnomADv4_1_nhomalt_joint_XX=9235;gnomADv4_1_nhomalt_joint_XY=8500;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chrX 2715792 chrX_2715792_G_C G C 51 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.993;CADD_Rawscore=-0.019694;CSQ=C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||2/9|ENST00000381184.6:c.100+1338G>C|||||||rs28787592||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2715792G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.100+1338G>C|||||||rs28787592||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2715792G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||2/9|ENST00000381192.10:c.100+1338G>C|||||||rs28787592||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2715792G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||2/7|ENST00000449611.6:n.229+1338G>C|||||||rs28787592||1||HGNC|HGNC:7082|5||||||||Ensembl||G|G||||chrX:g.2715792G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs28787592|1582|1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2715792G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||2/8|ENST00000482405.7:c.100+1338G>C|||||||rs28787592||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2715792G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs28787592|3276|1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2715792G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||2/10|ENST00000611428.5:c.100+1338G>C|||||||rs28787592||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2715792G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||2/10|ENST00000623253.4:c.100+1338G>C|||||||rs28787592||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2715792G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||2/9|ENST00000624481.4:c.100+1338G>C|||||||rs28787592||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2715792G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||2/6|ENST00000645950.1:n.166+1338G>C|||||||rs28787592||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2715792G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs28787592|195|1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2715792G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||2/2|ENST00000647297.1:n.169+1338G>C|||||||rs28787592||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2715792G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.100+1338G>C|||||||rs28787592||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2715792G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||2/8|NM_001321367.2:c.100+1338G>C|||||||rs28787592||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2715792G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||2/9|NM_001321368.2:c.100+1338G>C|||||||rs28787592||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2715792G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.100+1338G>C|||||||rs28787592||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2715792G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||2/8|NM_001321370.2:c.100+1338G>C|||||||rs28787592||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2715792G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||2/9|NM_002414.5:c.100+1338G>C|||||||rs28787592||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2715792G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||2/10|NR_135623.2:n.166+1338G>C|||||||rs28787592||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2715792G>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|4|-1|45|-1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73007;gnomADv4_1_AC_joint_XX=37729;gnomADv4_1_AC_joint_XY=35278;gnomADv4_1_AF_grpmax_joint=0.578488;gnomADv4_1_AF_joint=0.481012;gnomADv4_1_AF_joint_XX=0.486048;gnomADv4_1_AF_joint_XY=0.47574;gnomADv4_1_AN_grpmax_joint=41382;gnomADv4_1_AN_joint=151778;gnomADv4_1_AN_joint_XX=77624;gnomADv4_1_AN_joint_XY=74154;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17936;gnomADv4_1_nhomalt_joint_XX=9334;gnomADv4_1_nhomalt_joint_XY=8602;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chrX 2715939 chrX_2715939_A_G A G 50 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=2.302;CADD_Rawscore=0.201455;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||2/9|ENST00000381184.6:c.100+1485A>G|||||||rs311074||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2715939A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.100+1485A>G|||||||rs311074||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2715939A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||2/9|ENST00000381192.10:c.100+1485A>G|||||||rs311074||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2715939A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||2/7|ENST00000449611.6:n.229+1485A>G|||||||rs311074||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2715939A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs311074|1435|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2715939A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||2/8|ENST00000482405.7:c.100+1485A>G|||||||rs311074||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2715939A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs311074|3129|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2715939A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||2/10|ENST00000611428.5:c.100+1485A>G|||||||rs311074||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2715939A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||2/10|ENST00000623253.4:c.100+1485A>G|||||||rs311074||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2715939A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||2/9|ENST00000624481.4:c.100+1485A>G|||||||rs311074||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2715939A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||2/6|ENST00000645950.1:n.166+1485A>G|||||||rs311074||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2715939A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs311074|342|1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2715939A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||2/2|ENST00000647297.1:n.169+1485A>G|||||||rs311074||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2715939A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.100+1485A>G|||||||rs311074||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2715939A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||2/8|NM_001321367.2:c.100+1485A>G|||||||rs311074||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2715939A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||2/9|NM_001321368.2:c.100+1485A>G|||||||rs311074||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2715939A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.100+1485A>G|||||||rs311074||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2715939A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||2/8|NM_001321370.2:c.100+1485A>G|||||||rs311074||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2715939A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||2/9|NM_002414.5:c.100+1485A>G|||||||rs311074||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2715939A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||2/10|NR_135623.2:n.166+1485A>G|||||||rs311074||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2715939A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|1|-11|26|1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53209;gnomADv4_1_AC_joint_XX=26908;gnomADv4_1_AC_joint_XY=26301;gnomADv4_1_AF_grpmax_joint=0.486036;gnomADv4_1_AF_joint=0.350313;gnomADv4_1_AF_joint_XX=0.346387;gnomADv4_1_AF_joint_XY=0.354423;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151890;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=74208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9810;gnomADv4_1_nhomalt_joint_XX=4921;gnomADv4_1_nhomalt_joint_XY=4889;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2716342 chrX_2716342_C_CA C CA 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.992;CADDIndel_Rawscore=-0.019827;CSQ=A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||2/9|ENST00000381184.6:c.101-1263_101-1262insA|||||||rs34935127||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl|||||||chrX:g.2716342_2716343insA|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.100+1888_100+1889insA|||||||rs34935127||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl|||||||chrX:g.2716342_2716343insA|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||2/9|ENST00000381192.10:c.101-1263_101-1262insA|||||||rs34935127||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl|||||||chrX:g.2716342_2716343insA|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||2/7|ENST00000449611.6:n.230-1263_230-1262insA|||||||rs34935127||1||HGNC|HGNC:7082|5||||||||Ensembl|||||||chrX:g.2716342_2716343insA|||||||||||||,A|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs34935127|1031|1||HGNC|HGNC:7082|2||||||||Ensembl|||||||chrX:g.2716342_2716343insA|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||2/8|ENST00000482405.7:c.101-1263_101-1262insA|||||||rs34935127||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2716342_2716343insA|||||||||||||,A|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs34935127|2725|1||HGNC|HGNC:7082|2||||||||Ensembl|||||||chrX:g.2716342_2716343insA|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||2/10|ENST00000611428.5:c.101-1263_101-1262insA|||||||rs34935127||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2716342_2716343insA|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||2/10|ENST00000623253.4:c.101-1263_101-1262insA|||||||rs34935127||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2716342_2716343insA|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||2/9|ENST00000624481.4:c.101-1263_101-1262insA|||||||rs34935127||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl|||||||chrX:g.2716342_2716343insA|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||2/6|ENST00000645950.1:n.167-1263_167-1262insA|||||||rs34935127||1||HGNC|HGNC:7082|||||||||Ensembl|||||||chrX:g.2716342_2716343insA|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs34935127|745|1||HGNC|HGNC:7082|||||||||Ensembl|||||||chrX:g.2716342_2716343insA|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||2/2|ENST00000647297.1:n.170-1263_170-1262insA|||||||rs34935127||1||HGNC|HGNC:7082|||||||||Ensembl|||||||chrX:g.2716342_2716343insA|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.100+1888_100+1889insA|||||||rs34935127||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq|||||||chrX:g.2716342_2716343insA|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||2/8|NM_001321367.2:c.101-1263_101-1262insA|||||||rs34935127||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq|||||||chrX:g.2716342_2716343insA|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||2/9|NM_001321368.2:c.101-1263_101-1262insA|||||||rs34935127||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq|||||||chrX:g.2716342_2716343insA|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.100+1888_100+1889insA|||||||rs34935127||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq|||||||chrX:g.2716342_2716343insA|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||2/8|NM_001321370.2:c.101-1263_101-1262insA|||||||rs34935127||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq|||||||chrX:g.2716342_2716343insA|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||2/9|NM_002414.5:c.101-1263_101-1262insA|||||||rs34935127||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq|||||||chrX:g.2716342_2716343insA|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||2/10|NR_135623.2:n.167-1263_167-1262insA|||||||rs34935127||1||EntrezGene|HGNC:7082|||||||||RefSeq|||||||chrX:g.2716342_2716343insA|||||||||||||;SpliceAI=CA|CD99|0.00|0.00|0.00|0.00|2|40|-48|40;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50608;gnomADv4_1_AC_joint_XX=26188;gnomADv4_1_AC_joint_XY=24420;gnomADv4_1_AF_grpmax_joint=0.489796;gnomADv4_1_AF_joint=0.33561;gnomADv4_1_AF_joint_XX=0.339346;gnomADv4_1_AF_joint_XY=0.331694;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=150794;gnomADv4_1_AN_joint_XX=77172;gnomADv4_1_AN_joint_XY=73622;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8731;gnomADv4_1_nhomalt_joint_XX=4625;gnomADv4_1_nhomalt_joint_XY=4106;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2716596 chrX_2716596_A_G A G 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.807;CADD_Rawscore=-0.073043;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||2/9|ENST00000381184.6:c.101-1009A>G|||||||rs185351047||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2716596A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.100+2142A>G|||||||rs185351047||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2716596A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||2/9|ENST00000381192.10:c.101-1009A>G|||||||rs185351047||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2716596A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||2/7|ENST00000449611.6:n.230-1009A>G|||||||rs185351047||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2716596A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs185351047|778|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2716596A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||2/8|ENST00000482405.7:c.101-1009A>G|||||||rs185351047||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2716596A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs185351047|2472|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2716596A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||2/10|ENST00000611428.5:c.101-1009A>G|||||||rs185351047||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2716596A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||2/10|ENST00000623253.4:c.101-1009A>G|||||||rs185351047||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2716596A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||2/9|ENST00000624481.4:c.101-1009A>G|||||||rs185351047||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2716596A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||2/6|ENST00000645950.1:n.167-1009A>G|||||||rs185351047||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2716596A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs185351047|999|1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2716596A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||2/2|ENST00000647297.1:n.170-1009A>G|||||||rs185351047||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2716596A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.100+2142A>G|||||||rs185351047||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2716596A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||2/8|NM_001321367.2:c.101-1009A>G|||||||rs185351047||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2716596A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||2/9|NM_001321368.2:c.101-1009A>G|||||||rs185351047||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2716596A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.100+2142A>G|||||||rs185351047||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2716596A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||2/8|NM_001321370.2:c.101-1009A>G|||||||rs185351047||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2716596A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||2/9|NM_002414.5:c.101-1009A>G|||||||rs185351047||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2716596A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||2/10|NR_135623.2:n.167-1009A>G|||||||rs185351047||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2716596A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|1|-23|-46|-14;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2174;gnomADv4_1_AC_joint_XX=1218;gnomADv4_1_AC_joint_XY=956;gnomADv4_1_AF_grpmax_joint=0.0224584;gnomADv4_1_AF_joint=0.0142981;gnomADv4_1_AF_joint_XX=0.0156712;gnomADv4_1_AF_joint_XY=0.0128623;gnomADv4_1_AN_grpmax_joint=67948;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25;gnomADv4_1_nhomalt_joint_XX=12;gnomADv4_1_nhomalt_joint_XY=13;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2716780 chrX_2716780_A_T A T 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.266;CADD_Rawscore=0.043617;CSQ=T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||2/9|ENST00000381184.6:c.101-825A>T|||||||rs7051896||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2716780A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.100+2326A>T|||||||rs7051896||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2716780A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||2/9|ENST00000381192.10:c.101-825A>T|||||||rs7051896||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2716780A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||2/7|ENST00000449611.6:n.230-825A>T|||||||rs7051896||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2716780A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs7051896|594|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2716780A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||2/8|ENST00000482405.7:c.101-825A>T|||||||rs7051896||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2716780A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs7051896|2288|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2716780A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||2/10|ENST00000611428.5:c.101-825A>T|||||||rs7051896||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2716780A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||2/10|ENST00000623253.4:c.101-825A>T|||||||rs7051896||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2716780A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||2/9|ENST00000624481.4:c.101-825A>T|||||||rs7051896||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2716780A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||2/6|ENST00000645950.1:n.167-825A>T|||||||rs7051896||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2716780A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs7051896|1183|1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2716780A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||2/2|ENST00000647297.1:n.170-825A>T|||||||rs7051896||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2716780A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.100+2326A>T|||||||rs7051896||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2716780A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||2/8|NM_001321367.2:c.101-825A>T|||||||rs7051896||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2716780A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||2/9|NM_001321368.2:c.101-825A>T|||||||rs7051896||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2716780A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.100+2326A>T|||||||rs7051896||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2716780A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||2/8|NM_001321370.2:c.101-825A>T|||||||rs7051896||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2716780A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||2/9|NM_002414.5:c.101-825A>T|||||||rs7051896||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2716780A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||2/10|NR_135623.2:n.167-825A>T|||||||rs7051896||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2716780A>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|11|27|16|12;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58730;gnomADv4_1_AC_joint_XX=31385;gnomADv4_1_AC_joint_XY=27345;gnomADv4_1_AF_grpmax_joint=0.530612;gnomADv4_1_AF_joint=0.3866;gnomADv4_1_AF_joint_XX=0.404165;gnomADv4_1_AF_joint_XY=0.368233;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151914;gnomADv4_1_AN_joint_XX=77654;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11549;gnomADv4_1_nhomalt_joint_XX=6509;gnomADv4_1_nhomalt_joint_XY=5040;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chrX 2717084 chrX_2717084_A_C A C 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.88;CADD_Rawscore=-0.050682;CSQ=C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||2/9|ENST00000381184.6:c.101-521A>C|||||||rs311076||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2717084A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.101-2577A>C|||||||rs311076||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2717084A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||2/9|ENST00000381192.10:c.101-521A>C|||||||rs311076||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2717084A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||2/7|ENST00000449611.6:n.230-521A>C|||||||rs311076||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2717084A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs311076|290|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2717084A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||2/8|ENST00000482405.7:c.101-521A>C|||||||rs311076||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2717084A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs311076|1984|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2717084A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||2/10|ENST00000611428.5:c.101-521A>C|||||||rs311076||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2717084A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||2/10|ENST00000623253.4:c.101-521A>C|||||||rs311076||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2717084A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||2/9|ENST00000624481.4:c.101-521A>C|||||||rs311076||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2717084A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||2/6|ENST00000645950.1:n.167-521A>C|||||||rs311076||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2717084A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs311076|1487|1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2717084A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||2/2|ENST00000647297.1:n.170-521A>C|||||||rs311076||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2717084A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.101-2577A>C|||||||rs311076||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2717084A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||2/8|NM_001321367.2:c.101-521A>C|||||||rs311076||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2717084A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||2/9|NM_001321368.2:c.101-521A>C|||||||rs311076||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2717084A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.101-2577A>C|||||||rs311076||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2717084A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||2/8|NM_001321370.2:c.101-521A>C|||||||rs311076||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2717084A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||2/9|NM_002414.5:c.101-521A>C|||||||rs311076||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2717084A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||2/10|NR_135623.2:n.167-521A>C|||||||rs311076||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2717084A>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|15|-47|49|31;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=106176;gnomADv4_1_AC_joint_XX=55135;gnomADv4_1_AC_joint_XY=51041;gnomADv4_1_AF_grpmax_joint=0.739543;gnomADv4_1_AF_joint=0.698848;gnomADv4_1_AF_joint_XX=0.70946;gnomADv4_1_AF_joint_XY=0.687736;gnomADv4_1_AN_grpmax_joint=67942;gnomADv4_1_AN_joint=151930;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74216;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=37659;gnomADv4_1_nhomalt_joint_XX=19740;gnomADv4_1_nhomalt_joint_XY=17919;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2717203 chrX_2717203_C_G C G 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.341;CADD_Rawscore=0.058783;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||2/9|ENST00000381184.6:c.101-402C>G|||||||rs28700076||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2717203C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.101-2458C>G|||||||rs28700076||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2717203C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||2/9|ENST00000381192.10:c.101-402C>G|||||||rs28700076||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2717203C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||2/7|ENST00000449611.6:n.230-402C>G|||||||rs28700076||1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2717203C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs28700076|171|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2717203C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||2/8|ENST00000482405.7:c.101-402C>G|||||||rs28700076||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2717203C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs28700076|1865|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2717203C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||2/10|ENST00000611428.5:c.101-402C>G|||||||rs28700076||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2717203C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||2/10|ENST00000623253.4:c.101-402C>G|||||||rs28700076||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2717203C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||2/9|ENST00000624481.4:c.101-402C>G|||||||rs28700076||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2717203C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||2/6|ENST00000645950.1:n.167-402C>G|||||||rs28700076||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2717203C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs28700076|1606|1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2717203C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||2/2|ENST00000647297.1:n.170-402C>G|||||||rs28700076||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2717203C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.101-2458C>G|||||||rs28700076||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2717203C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||2/8|NM_001321367.2:c.101-402C>G|||||||rs28700076||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2717203C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||2/9|NM_001321368.2:c.101-402C>G|||||||rs28700076||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2717203C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.101-2458C>G|||||||rs28700076||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2717203C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||2/8|NM_001321370.2:c.101-402C>G|||||||rs28700076||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2717203C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||2/9|NM_002414.5:c.101-402C>G|||||||rs28700076||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2717203C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||2/10|NR_135623.2:n.167-402C>G|||||||rs28700076||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2717203C>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|0|21|-41|21;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=51469;gnomADv4_1_AC_joint_XX=27264;gnomADv4_1_AC_joint_XY=24205;gnomADv4_1_AF_grpmax_joint=0.496599;gnomADv4_1_AF_joint=0.339018;gnomADv4_1_AF_joint_XX=0.351096;gnomADv4_1_AF_joint_XY=0.326371;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151818;gnomADv4_1_AN_joint_XX=77654;gnomADv4_1_AN_joint_XY=74164;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9205;gnomADv4_1_nhomalt_joint_XX=5194;gnomADv4_1_nhomalt_joint_XY=4011;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2717347 chrX_2717347_C_CAA C CAA 27 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=27;CADDIndel_PHREDscore=0.417;CADDIndel_Rawscore=-0.238918;CSQ=AA|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||2/9|ENST00000381184.6:c.101-243_101-242dup|||||||rs111805240||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||16|chrX:g.2717362_2717363dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.101-2299_101-2298dup|||||||rs111805240||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||16|chrX:g.2717362_2717363dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||2/9|ENST00000381192.10:c.101-243_101-242dup|||||||rs111805240||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||16|chrX:g.2717362_2717363dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||2/7|ENST00000449611.6:n.230-243_230-242dup|||||||rs111805240||1||HGNC|HGNC:7082|5||||||||Ensembl||||||16|chrX:g.2717362_2717363dup|||||||||||||,AA|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs111805240|26|1||HGNC|HGNC:7082|2||||||||Ensembl|||||||chrX:g.2717362_2717363dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||2/8|ENST00000482405.7:c.101-243_101-242dup|||||||rs111805240||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||16|chrX:g.2717362_2717363dup|||||||||||||,AA|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs111805240|1720|1||HGNC|HGNC:7082|2||||||||Ensembl|||||||chrX:g.2717362_2717363dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||2/10|ENST00000611428.5:c.101-243_101-242dup|||||||rs111805240||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||16|chrX:g.2717362_2717363dup|||||||||||||,AA|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||2/10|ENST00000623253.4:c.101-243_101-242dup|||||||rs111805240||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||16|chrX:g.2717362_2717363dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||2/9|ENST00000624481.4:c.101-243_101-242dup|||||||rs111805240||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||16|chrX:g.2717362_2717363dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||2/6|ENST00000645950.1:n.167-243_167-242dup|||||||rs111805240||1||HGNC|HGNC:7082|||||||||Ensembl||||||16|chrX:g.2717362_2717363dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs111805240|1750|1||HGNC|HGNC:7082|||||||||Ensembl|||||||chrX:g.2717362_2717363dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||2/2|ENST00000647297.1:n.170-243_170-242dup|||||||rs111805240||1||HGNC|HGNC:7082|||||||||Ensembl||||||16|chrX:g.2717362_2717363dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.101-2299_101-2298dup|||||||rs111805240||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||16|chrX:g.2717362_2717363dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||2/8|NM_001321367.2:c.101-243_101-242dup|||||||rs111805240||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||16|chrX:g.2717362_2717363dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||2/9|NM_001321368.2:c.101-243_101-242dup|||||||rs111805240||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||16|chrX:g.2717362_2717363dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.101-2299_101-2298dup|||||||rs111805240||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||16|chrX:g.2717362_2717363dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||2/8|NM_001321370.2:c.101-243_101-242dup|||||||rs111805240||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||16|chrX:g.2717362_2717363dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||2/9|NM_002414.5:c.101-243_101-242dup|||||||rs111805240||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||16|chrX:g.2717362_2717363dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||2/10|NR_135623.2:n.167-243_167-242dup|||||||rs111805240||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||16|chrX:g.2717362_2717363dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58307;gnomADv4_1_AC_joint_XX=28144;gnomADv4_1_AC_joint_XY=30163;gnomADv4_1_AF_grpmax_joint=0.197625;gnomADv4_1_AF_joint=0.170695;gnomADv4_1_AF_joint_XX=0.165139;gnomADv4_1_AF_joint_XY=0.176227;gnomADv4_1_AN_grpmax_joint=191054;gnomADv4_1_AN_joint=341586;gnomADv4_1_AN_joint_XX=170426;gnomADv4_1_AN_joint_XY=171160;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3645;gnomADv4_1_nhomalt_joint_XX=1753;gnomADv4_1_nhomalt_joint_XY=1892;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2717448 chrX_2717448_G_C G C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.382;CADD_Rawscore=-0.260595;CSQ=C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||2/9|ENST00000381184.6:c.101-157G>C|||||||rs311077||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2717448G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.101-2213G>C|||||||rs311077||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2717448G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||2/9|ENST00000381192.10:c.101-157G>C|||||||rs311077||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2717448G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||2/7|ENST00000449611.6:n.230-157G>C|||||||rs311077||1||HGNC|HGNC:7082|5||||||||Ensembl||G|G||||chrX:g.2717448G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined|1/7||ENST00000482293.6:n.75G>C||75|||||rs311077||1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2717448G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||2/8|ENST00000482405.7:c.101-157G>C|||||||rs311077||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2717448G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs311077|1620|1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2717448G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||2/10|ENST00000611428.5:c.101-157G>C|||||||rs311077||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2717448G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||2/10|ENST00000623253.4:c.101-157G>C|||||||rs311077||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2717448G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||2/9|ENST00000624481.4:c.101-157G>C|||||||rs311077||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2717448G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||2/6|ENST00000645950.1:n.167-157G>C|||||||rs311077||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2717448G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs311077|1851|1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2717448G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||2/2|ENST00000647297.1:n.170-157G>C|||||||rs311077||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2717448G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.101-2213G>C|||||||rs311077||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2717448G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||2/8|NM_001321367.2:c.101-157G>C|||||||rs311077||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2717448G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||2/9|NM_001321368.2:c.101-157G>C|||||||rs311077||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2717448G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.101-2213G>C|||||||rs311077||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2717448G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||2/8|NM_001321370.2:c.101-157G>C|||||||rs311077||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2717448G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||2/9|NM_002414.5:c.101-157G>C|||||||rs311077||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2717448G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||2/10|NR_135623.2:n.167-157G>C|||||||rs311077||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2717448G>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|13|-7|-42|26;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=464628;gnomADv4_1_AC_joint_XX=224506;gnomADv4_1_AC_joint_XY=240122;gnomADv4_1_AF_grpmax_joint=0.756843;gnomADv4_1_AF_joint=0.720534;gnomADv4_1_AF_joint_XX=0.723863;gnomADv4_1_AF_joint_XY=0.71745;gnomADv4_1_AN_grpmax_joint=357942;gnomADv4_1_AN_joint=644838;gnomADv4_1_AN_joint_XX=310150;gnomADv4_1_AN_joint_XY=334688;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=170070;gnomADv4_1_nhomalt_joint_XX=82198;gnomADv4_1_nhomalt_joint_XY=87872;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2717937 chrX_2717937_CTTT_C CTTT C 46 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADDIndel_PHREDscore=0.231;CADDIndel_Rawscore=-0.389171;CSQ=-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||3/9|ENST00000381184.6:c.148+304_148+306del|||||||rs527447220||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.101-1705_101-1703del|||||||rs527447220||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||3/9|ENST00000381192.10:c.148+304_148+306del|||||||rs527447220||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||3/7|ENST00000449611.6:n.277+304_277+306del|||||||rs527447220||1||HGNC|HGNC:7082|5||||||||Ensembl||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||2/6|ENST00000482293.6:n.149+304_149+306del|||||||rs527447220||1||HGNC|HGNC:7082|2||||||||Ensembl||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||3/8|ENST00000482405.7:c.148+304_148+306del|||||||rs527447220||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||,-|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs527447220|1128|1||HGNC|HGNC:7082|2||||||||Ensembl||TTT|TTT||||chrX:g.2717956_2717958del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||3/10|ENST00000611428.5:c.148+304_148+306del|||||||rs527447220||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||3/10|ENST00000623253.4:c.148+304_148+306del|||||||rs527447220||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||3/9|ENST00000624481.4:c.148+304_148+306del|||||||rs527447220||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||3/6|ENST00000645950.1:n.214+304_214+306del|||||||rs527447220||1||HGNC|HGNC:7082|||||||||Ensembl||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs527447220|2341|1||HGNC|HGNC:7082|||||||||Ensembl||TTT|TTT||||chrX:g.2717956_2717958del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron|3/3||ENST00000647297.1:n.521_523del||503-505|||||rs527447220||1||HGNC|HGNC:7082|||||||||Ensembl||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.101-1705_101-1703del|||||||rs527447220||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||3/8|NM_001321367.2:c.148+304_148+306del|||||||rs527447220||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||3/9|NM_001321368.2:c.148+304_148+306del|||||||rs527447220||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.101-1705_101-1703del|||||||rs527447220||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||3/8|NM_001321370.2:c.148+304_148+306del|||||||rs527447220||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||3/9|NM_002414.5:c.148+304_148+306del|||||||rs527447220||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||3/10|NR_135623.2:n.214+304_214+306del|||||||rs527447220||1||EntrezGene|HGNC:7082|||||||||RefSeq||TTT|TTT|||18|chrX:g.2717956_2717958del|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|50|-33|-50|-33;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78857;gnomADv4_1_AC_joint_XX=41442;gnomADv4_1_AC_joint_XY=37415;gnomADv4_1_AF_grpmax_joint=0.525522;gnomADv4_1_AF_joint=0.482672;gnomADv4_1_AF_joint_XX=0.495931;gnomADv4_1_AF_joint_XY=0.468789;gnomADv4_1_AN_grpmax_joint=91020;gnomADv4_1_AN_joint=163376;gnomADv4_1_AN_joint_XX=83564;gnomADv4_1_AN_joint_XY=79812;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14744;gnomADv4_1_nhomalt_joint_XX=8020;gnomADv4_1_nhomalt_joint_XY=6724;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2717993 chrX_2717993_G_A G A 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=2.891;CADD_Rawscore=0.263924;CSQ=A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||3/9|ENST00000381184.6:c.148+341G>A|||||||rs181433854||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2717993G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.101-1668G>A|||||||rs181433854||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2717993G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||3/9|ENST00000381192.10:c.148+341G>A|||||||rs181433854||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2717993G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||3/7|ENST00000449611.6:n.277+341G>A|||||||rs181433854||1||HGNC|HGNC:7082|5||||||||Ensembl||G|G||||chrX:g.2717993G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||2/6|ENST00000482293.6:n.149+341G>A|||||||rs181433854||1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2717993G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||3/8|ENST00000482405.7:c.148+341G>A|||||||rs181433854||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2717993G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs181433854|1075|1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2717993G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||3/10|ENST00000611428.5:c.148+341G>A|||||||rs181433854||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2717993G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||3/10|ENST00000623253.4:c.148+341G>A|||||||rs181433854||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2717993G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||3/9|ENST00000624481.4:c.148+341G>A|||||||rs181433854||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2717993G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||3/6|ENST00000645950.1:n.214+341G>A|||||||rs181433854||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2717993G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs181433854|2396|1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2717993G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron|3/3||ENST00000647297.1:n.558G>A||558|||||rs181433854||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2717993G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.101-1668G>A|||||||rs181433854||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2717993G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||3/8|NM_001321367.2:c.148+341G>A|||||||rs181433854||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2717993G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||3/9|NM_001321368.2:c.148+341G>A|||||||rs181433854||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2717993G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.101-1668G>A|||||||rs181433854||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2717993G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||3/8|NM_001321370.2:c.148+341G>A|||||||rs181433854||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2717993G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||3/9|NM_002414.5:c.148+341G>A|||||||rs181433854||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2717993G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||3/10|NR_135623.2:n.214+341G>A|||||||rs181433854||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2717993G>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|-6|1|43|-32;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1030;gnomADv4_1_AC_joint_XX=459;gnomADv4_1_AC_joint_XY=571;gnomADv4_1_AF_grpmax_joint=0.00673401;gnomADv4_1_AF_joint=0.0037619;gnomADv4_1_AF_joint_XX=0.0033697;gnomADv4_1_AF_joint_XY=0.00415019;gnomADv4_1_AN_grpmax_joint=20790;gnomADv4_1_AN_joint=273798;gnomADv4_1_AN_joint_XX=136214;gnomADv4_1_AN_joint_XY=137584;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=6;gnomADv4_1_nhomalt_joint_XX=4;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2718034 chrX_2718034_C_T C T 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=1.087;CADD_Rawscore=0.003915;CSQ=T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||3/9|ENST00000381184.6:c.148+382C>T|||||||rs7050284||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2718034C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.101-1627C>T|||||||rs7050284||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2718034C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||3/9|ENST00000381192.10:c.148+382C>T|||||||rs7050284||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2718034C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||3/7|ENST00000449611.6:n.277+382C>T|||||||rs7050284||1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2718034C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||2/6|ENST00000482293.6:n.149+382C>T|||||||rs7050284||1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2718034C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||3/8|ENST00000482405.7:c.148+382C>T|||||||rs7050284||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2718034C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs7050284|1034|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2718034C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||3/10|ENST00000611428.5:c.148+382C>T|||||||rs7050284||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2718034C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||3/10|ENST00000623253.4:c.148+382C>T|||||||rs7050284||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2718034C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||3/9|ENST00000624481.4:c.148+382C>T|||||||rs7050284||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2718034C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||3/6|ENST00000645950.1:n.214+382C>T|||||||rs7050284||1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2718034C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs7050284|2437|1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2718034C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||||||||||rs7050284|16|1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2718034C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.101-1627C>T|||||||rs7050284||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2718034C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||3/8|NM_001321367.2:c.148+382C>T|||||||rs7050284||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2718034C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||3/9|NM_001321368.2:c.148+382C>T|||||||rs7050284||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2718034C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.101-1627C>T|||||||rs7050284||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2718034C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||3/8|NM_001321370.2:c.148+382C>T|||||||rs7050284||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2718034C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||3/9|NM_002414.5:c.148+382C>T|||||||rs7050284||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2718034C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||3/10|NR_135623.2:n.214+382C>T|||||||rs7050284||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2718034C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|26|-47|-34|2;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119602;gnomADv4_1_AC_joint_XX=61161;gnomADv4_1_AC_joint_XY=58441;gnomADv4_1_AF_grpmax_joint=0.741965;gnomADv4_1_AF_joint=0.649291;gnomADv4_1_AF_joint_XX=0.657645;gnomADv4_1_AF_joint_XY=0.640772;gnomADv4_1_AN_grpmax_joint=89174;gnomADv4_1_AN_joint=184204;gnomADv4_1_AN_joint_XX=93000;gnomADv4_1_AN_joint_XY=91204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=39956;gnomADv4_1_nhomalt_joint_XX=20657;gnomADv4_1_nhomalt_joint_XY=19299;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2718041 chrX_2718041_A_G A G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.261;CADD_Rawscore=-0.3576;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||3/9|ENST00000381184.6:c.148+389A>G|||||||rs7057534||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2718041A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.101-1620A>G|||||||rs7057534||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2718041A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||3/9|ENST00000381192.10:c.148+389A>G|||||||rs7057534||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2718041A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||3/7|ENST00000449611.6:n.277+389A>G|||||||rs7057534||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2718041A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||2/6|ENST00000482293.6:n.149+389A>G|||||||rs7057534||1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2718041A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||3/8|ENST00000482405.7:c.148+389A>G|||||||rs7057534||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2718041A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs7057534|1027|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2718041A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||3/10|ENST00000611428.5:c.148+389A>G|||||||rs7057534||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2718041A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||3/10|ENST00000623253.4:c.148+389A>G|||||||rs7057534||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2718041A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||3/9|ENST00000624481.4:c.148+389A>G|||||||rs7057534||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2718041A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||3/6|ENST00000645950.1:n.214+389A>G|||||||rs7057534||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2718041A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs7057534|2444|1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2718041A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||||||||||rs7057534|23|1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2718041A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.101-1620A>G|||||||rs7057534||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2718041A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||3/8|NM_001321367.2:c.148+389A>G|||||||rs7057534||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2718041A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||3/9|NM_001321368.2:c.148+389A>G|||||||rs7057534||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2718041A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.101-1620A>G|||||||rs7057534||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2718041A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||3/8|NM_001321370.2:c.148+389A>G|||||||rs7057534||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2718041A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||3/9|NM_002414.5:c.148+389A>G|||||||rs7057534||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2718041A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||3/10|NR_135623.2:n.214+389A>G|||||||rs7057534||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2718041A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|19|2|-5|-41;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=116382;gnomADv4_1_AC_joint_XX=59659;gnomADv4_1_AC_joint_XY=56723;gnomADv4_1_AF_grpmax_joint=0.741793;gnomADv4_1_AF_joint=0.651613;gnomADv4_1_AF_joint_XX=0.658793;gnomADv4_1_AF_joint_XY=0.644228;gnomADv4_1_AN_grpmax_joint=86144;gnomADv4_1_AN_joint=178606;gnomADv4_1_AN_joint_XX=90558;gnomADv4_1_AN_joint_XY=88048;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=38867;gnomADv4_1_nhomalt_joint_XX=20149;gnomADv4_1_nhomalt_joint_XY=18718;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2718210 chrX_2718210_G_C G C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.661;CADD_Rawscore=-0.12324;CSQ=C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||3/9|ENST00000381184.6:c.148+558G>C|||||||rs311078||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2718210G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.101-1451G>C|||||||rs311078||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2718210G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||3/9|ENST00000381192.10:c.148+558G>C|||||||rs311078||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2718210G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||3/7|ENST00000449611.6:n.277+558G>C|||||||rs311078||1||HGNC|HGNC:7082|5||||||||Ensembl||G|G||||chrX:g.2718210G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||2/6|ENST00000482293.6:n.149+558G>C|||||||rs311078||1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2718210G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||3/8|ENST00000482405.7:c.148+558G>C|||||||rs311078||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2718210G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs311078|858|1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2718210G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||3/10|ENST00000611428.5:c.148+558G>C|||||||rs311078||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2718210G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||3/10|ENST00000623253.4:c.148+558G>C|||||||rs311078||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2718210G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||3/9|ENST00000624481.4:c.148+558G>C|||||||rs311078||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2718210G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||3/6|ENST00000645950.1:n.214+558G>C|||||||rs311078||1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2718210G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs311078|2613|1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2718210G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||||||||||rs311078|192|1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2718210G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.101-1451G>C|||||||rs311078||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2718210G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||3/8|NM_001321367.2:c.148+558G>C|||||||rs311078||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2718210G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||3/9|NM_001321368.2:c.148+558G>C|||||||rs311078||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2718210G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.101-1451G>C|||||||rs311078||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2718210G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||3/8|NM_001321370.2:c.148+558G>C|||||||rs311078||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2718210G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||3/9|NM_002414.5:c.148+558G>C|||||||rs311078||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2718210G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||3/10|NR_135623.2:n.214+558G>C|||||||rs311078||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2718210G>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|17|-33|17|0;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=107626;gnomADv4_1_AC_joint_XX=55898;gnomADv4_1_AC_joint_XY=51728;gnomADv4_1_AF_grpmax_joint=0.755279;gnomADv4_1_AF_joint=0.710525;gnomADv4_1_AF_joint_XX=0.720948;gnomADv4_1_AF_joint_XY=0.699594;gnomADv4_1_AN_grpmax_joint=41296;gnomADv4_1_AN_joint=151474;gnomADv4_1_AN_joint_XX=77534;gnomADv4_1_AN_joint_XY=73940;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=38762;gnomADv4_1_nhomalt_joint_XX=20318;gnomADv4_1_nhomalt_joint_XY=18444;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2718494 chrX_2718494_A_G A G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.467;CADD_Rawscore=-0.210503;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||3/9|ENST00000381184.6:c.148+842A>G|||||||rs5939306||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2718494A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.101-1167A>G|||||||rs5939306||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2718494A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||3/9|ENST00000381192.10:c.148+842A>G|||||||rs5939306||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2718494A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||3/7|ENST00000449611.6:n.277+842A>G|||||||rs5939306||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2718494A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||2/6|ENST00000482293.6:n.149+842A>G|||||||rs5939306||1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2718494A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||3/8|ENST00000482405.7:c.148+842A>G|||||||rs5939306||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2718494A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs5939306|574|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2718494A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||3/10|ENST00000611428.5:c.148+842A>G|||||||rs5939306||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2718494A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||3/10|ENST00000623253.4:c.148+842A>G|||||||rs5939306||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2718494A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||3/9|ENST00000624481.4:c.148+842A>G|||||||rs5939306||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2718494A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||3/6|ENST00000645950.1:n.214+842A>G|||||||rs5939306||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2718494A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs5939306|2897|1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2718494A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||||||||||rs5939306|476|1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2718494A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.101-1167A>G|||||||rs5939306||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2718494A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||3/8|NM_001321367.2:c.148+842A>G|||||||rs5939306||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2718494A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||3/9|NM_001321368.2:c.148+842A>G|||||||rs5939306||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2718494A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.101-1167A>G|||||||rs5939306||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2718494A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||3/8|NM_001321370.2:c.148+842A>G|||||||rs5939306||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2718494A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||3/9|NM_002414.5:c.148+842A>G|||||||rs5939306||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2718494A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||3/10|NR_135623.2:n.214+842A>G|||||||rs5939306||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2718494A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-6|38|48|1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=99354;gnomADv4_1_AC_joint_XX=51556;gnomADv4_1_AC_joint_XY=47798;gnomADv4_1_AF_grpmax_joint=0.747267;gnomADv4_1_AF_joint=0.655871;gnomADv4_1_AF_joint_XX=0.665101;gnomADv4_1_AF_joint_XY=0.646198;gnomADv4_1_AN_grpmax_joint=67882;gnomADv4_1_AN_joint=151484;gnomADv4_1_AN_joint_XX=77516;gnomADv4_1_AN_joint_XY=73968;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=33234;gnomADv4_1_nhomalt_joint_XX=17492;gnomADv4_1_nhomalt_joint_XY=15742;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2719189 chrX_2719189_T_C T C 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.438;CADD_Rawscore=-0.226474;CSQ=C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||3/9|ENST00000381184.6:c.149-472T>C|||||||rs5939307||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2719189T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.101-472T>C|||||||rs5939307||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2719189T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||3/9|ENST00000381192.10:c.149-472T>C|||||||rs5939307||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2719189T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||3/7|ENST00000449611.6:n.278-472T>C|||||||rs5939307||1||HGNC|HGNC:7082|5||||||||Ensembl||T|T||||chrX:g.2719189T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||2/6|ENST00000482293.6:n.150-472T>C|||||||rs5939307||1||HGNC|HGNC:7082|2||||||||Ensembl||T|T||||chrX:g.2719189T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||3/8|ENST00000482405.7:c.149-472T>C|||||||rs5939307||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2719189T>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron|1/5||ENST00000497752.7:n.122T>C||122|||||rs5939307||1||HGNC|HGNC:7082|2||||||||Ensembl||T|T||||chrX:g.2719189T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||3/10|ENST00000611428.5:c.149-472T>C|||||||rs5939307||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2719189T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||3/10|ENST00000623253.4:c.149-472T>C|||||||rs5939307||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2719189T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||3/9|ENST00000624481.4:c.149-472T>C|||||||rs5939307||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2719189T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||3/6|ENST00000645950.1:n.215-472T>C|||||||rs5939307||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2719189T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs5939307|3592|1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2719189T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||||||||||rs5939307|1171|1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2719189T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.101-472T>C|||||||rs5939307||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2719189T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||3/8|NM_001321367.2:c.149-472T>C|||||||rs5939307||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2719189T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||3/9|NM_001321368.2:c.149-472T>C|||||||rs5939307||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2719189T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.101-472T>C|||||||rs5939307||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2719189T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||3/8|NM_001321370.2:c.149-472T>C|||||||rs5939307||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2719189T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||3/9|NM_002414.5:c.149-472T>C|||||||rs5939307||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2719189T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||3/10|NR_135623.2:n.215-472T>C|||||||rs5939307||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2719189T>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|-30|36|19|-48;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=108117;gnomADv4_1_AC_joint_XX=56095;gnomADv4_1_AC_joint_XY=52022;gnomADv4_1_AF_grpmax_joint=0.758951;gnomADv4_1_AF_joint=0.685421;gnomADv4_1_AF_joint_XX=0.696434;gnomADv4_1_AF_joint_XY=0.67393;gnomADv4_1_AN_grpmax_joint=71666;gnomADv4_1_AN_joint=157738;gnomADv4_1_AN_joint_XX=80546;gnomADv4_1_AN_joint_XY=77192;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=37661;gnomADv4_1_nhomalt_joint_XX=19844;gnomADv4_1_nhomalt_joint_XY=17817;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2719398 chrX_2719398_T_TC T TC 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADDIndel_PHREDscore=0.394;CADDIndel_Rawscore=-0.252787;CSQ=C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||3/9|ENST00000381184.6:c.149-259dup|||||||rs11421093||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||4|chrX:g.2719402dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||2/8|ENST00000381187.8:c.101-259dup|||||||rs11421093||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||4|chrX:g.2719402dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||3/9|ENST00000381192.10:c.149-259dup|||||||rs11421093||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||4|chrX:g.2719402dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||3/7|ENST00000449611.6:n.278-259dup|||||||rs11421093||1||HGNC|HGNC:7082|5||||||||Ensembl||||||4|chrX:g.2719402dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||2/6|ENST00000482293.6:n.150-259dup|||||||rs11421093||1||HGNC|HGNC:7082|2||||||||Ensembl||||||4|chrX:g.2719402dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||3/8|ENST00000482405.7:c.149-259dup|||||||rs11421093||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||4|chrX:g.2719402dup|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron|1/5||ENST00000497752.7:n.335dup||331-332|||||rs11421093||1||HGNC|HGNC:7082|2||||||||Ensembl||||||4|chrX:g.2719402dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||3/10|ENST00000611428.5:c.149-259dup|||||||rs11421093||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||4|chrX:g.2719402dup|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||3/10|ENST00000623253.4:c.149-259dup|||||||rs11421093||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||4|chrX:g.2719402dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||3/9|ENST00000624481.4:c.149-259dup|||||||rs11421093||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||4|chrX:g.2719402dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||3/6|ENST00000645950.1:n.215-259dup|||||||rs11421093||1||HGNC|HGNC:7082|||||||||Ensembl||||||4|chrX:g.2719402dup|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs11421093|3801|1||HGNC|HGNC:7082|||||||||Ensembl|||||||chrX:g.2719402dup|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||||||||||rs11421093|1380|1||HGNC|HGNC:7082|||||||||Ensembl|||||||chrX:g.2719402dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||2/8|NM_001122898.3:c.101-259dup|||||||rs11421093||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||4|chrX:g.2719402dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||3/8|NM_001321367.2:c.149-259dup|||||||rs11421093||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||4|chrX:g.2719402dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||3/9|NM_001321368.2:c.149-259dup|||||||rs11421093||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||4|chrX:g.2719402dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||2/8|NM_001321369.2:c.101-259dup|||||||rs11421093||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||4|chrX:g.2719402dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||3/8|NM_001321370.2:c.149-259dup|||||||rs11421093||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||4|chrX:g.2719402dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||3/9|NM_002414.5:c.149-259dup|||||||rs11421093||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||4|chrX:g.2719402dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||3/10|NR_135623.2:n.215-259dup|||||||rs11421093||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||4|chrX:g.2719402dup|||||||||||||;SpliceAI=TC|CD99|0.00|0.00|0.00|0.00|24|36|-44|-25;TYPE=INDEL;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=315983;gnomADv4_1_AC_joint_XX=156944;gnomADv4_1_AC_joint_XY=159039;gnomADv4_1_AF_grpmax_joint=0.74289;gnomADv4_1_AF_joint=0.67004;gnomADv4_1_AF_joint_XX=0.676599;gnomADv4_1_AF_joint_XY=0.663691;gnomADv4_1_AN_grpmax_joint=262012;gnomADv4_1_AN_joint=471588;gnomADv4_1_AN_joint_XX=231960;gnomADv4_1_AN_joint_XY=239628;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=108979;gnomADv4_1_nhomalt_joint_XX=54462;gnomADv4_1_nhomalt_joint_XY=54517;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2720071 chrX_2720071_T_G T G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.056;CADD_Rawscore=-0.003703;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||4/9|ENST00000381184.6:c.194-285T>G|||||||rs3763368||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2720071T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||3/8|ENST00000381187.8:c.146-285T>G|||||||rs3763368||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2720071T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||4/9|ENST00000381192.10:c.194-285T>G|||||||rs3763368||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2720071T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||4/7|ENST00000449611.6:n.323-285T>G|||||||rs3763368||1||HGNC|HGNC:7082|5||||||||Ensembl||T|T||||chrX:g.2720071T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||3/6|ENST00000482293.6:n.195-285T>G|||||||rs3763368||1||HGNC|HGNC:7082|2||||||||Ensembl||T|T||||chrX:g.2720071T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||4/8|ENST00000482405.7:c.194-285T>G|||||||rs3763368||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2720071T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||1/4|ENST00000497752.7:n.639-285T>G|||||||rs3763368||1||HGNC|HGNC:7082|2||||||||Ensembl||T|T||||chrX:g.2720071T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||4/10|ENST00000611428.5:c.194-285T>G|||||||rs3763368||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2720071T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||4/10|ENST00000623253.4:c.194-285T>G|||||||rs3763368||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2720071T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||4/9|ENST00000624481.4:c.194-285T>G|||||||rs3763368||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2720071T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||4/6|ENST00000645950.1:n.260-285T>G|||||||rs3763368||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2720071T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000646103|retained_intron||||||||||rs3763368|4474|1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2720071T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||||||||||rs3763368|2053|1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2720071T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||3/8|NM_001122898.3:c.146-285T>G|||||||rs3763368||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2720071T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||4/8|NM_001321367.2:c.194-285T>G|||||||rs3763368||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2720071T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||4/9|NM_001321368.2:c.194-285T>G|||||||rs3763368||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2720071T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||3/8|NM_001321369.2:c.146-285T>G|||||||rs3763368||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2720071T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||4/8|NM_001321370.2:c.194-285T>G|||||||rs3763368||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2720071T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||4/9|NM_002414.5:c.194-285T>G|||||||rs3763368||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2720071T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||4/10|NR_135623.2:n.260-285T>G|||||||rs3763368||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2720071T>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|46|20|19|-3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000646103,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=100617;gnomADv4_1_AC_joint_XX=52199;gnomADv4_1_AC_joint_XY=48418;gnomADv4_1_AF_grpmax_joint=0.756974;gnomADv4_1_AF_joint=0.661989;gnomADv4_1_AF_joint_XX=0.671525;gnomADv4_1_AF_joint_XY=0.652006;gnomADv4_1_AN_grpmax_joint=67968;gnomADv4_1_AN_joint=151992;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=34019;gnomADv4_1_nhomalt_joint_XX=17924;gnomADv4_1_nhomalt_joint_XY=16095;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2720620 chrX_2720620_C_CT C CT 29 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=29;CADDIndel_PHREDscore=0.41;CADDIndel_Rawscore=-0.243062;CSQ=T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||5/9|ENST00000381184.6:c.262+218dup|||||||rs71281938||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||22|chrX:g.2720642dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||4/8|ENST00000381187.8:c.214+218dup|||||||rs71281938||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||22|chrX:g.2720642dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||5/9|ENST00000381192.10:c.262+218dup|||||||rs71281938||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||22|chrX:g.2720642dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||5/7|ENST00000449611.6:n.391+218dup|||||||rs71281938||1||HGNC|HGNC:7082|5||||||||Ensembl||||||22|chrX:g.2720642dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||4/6|ENST00000482293.6:n.263+218dup|||||||rs71281938||1||HGNC|HGNC:7082|2||||||||Ensembl||||||22|chrX:g.2720642dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||5/8|ENST00000482405.7:c.262+218dup|||||||rs71281938||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||22|chrX:g.2720642dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||2/4|ENST00000497752.7:n.707+218dup|||||||rs71281938||1||HGNC|HGNC:7082|2||||||||Ensembl||||||22|chrX:g.2720642dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||5/10|ENST00000611428.5:c.262+218dup|||||||rs71281938||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||22|chrX:g.2720642dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||5/10|ENST00000623253.4:c.262+218dup|||||||rs71281938||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||22|chrX:g.2720642dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||5/9|ENST00000624481.4:c.262+218dup|||||||rs71281938||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||22|chrX:g.2720642dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||5/6|ENST00000645950.1:n.328+218dup|||||||rs71281938||1||HGNC|HGNC:7082|||||||||Ensembl||||||22|chrX:g.2720642dup|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||||||||||rs71281938|2602|1||HGNC|HGNC:7082|||||||||Ensembl|||||||chrX:g.2720642dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||4/8|NM_001122898.3:c.214+218dup|||||||rs71281938||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||22|chrX:g.2720642dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||5/8|NM_001321367.2:c.262+218dup|||||||rs71281938||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||22|chrX:g.2720642dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||5/9|NM_001321368.2:c.262+218dup|||||||rs71281938||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||22|chrX:g.2720642dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||4/8|NM_001321369.2:c.214+218dup|||||||rs71281938||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||22|chrX:g.2720642dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||5/8|NM_001321370.2:c.262+218dup|||||||rs71281938||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||22|chrX:g.2720642dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||5/9|NM_002414.5:c.262+218dup|||||||rs71281938||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||22|chrX:g.2720642dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||5/10|NR_135623.2:n.328+218dup|||||||rs71281938||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||22|chrX:g.2720642dup|||||||||||||;SpliceAI=CT|CD99|0.00|0.00|0.00|0.00|50|30|-35|-48;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38053;gnomADv4_1_AC_joint_XX=20987;gnomADv4_1_AC_joint_XY=17066;gnomADv4_1_AF_grpmax_joint=0.537333;gnomADv4_1_AF_joint=0.452947;gnomADv4_1_AF_joint_XX=0.45023;gnomADv4_1_AF_joint_XY=0.456335;gnomADv4_1_AN_grpmax_joint=46956;gnomADv4_1_AN_joint=84012;gnomADv4_1_AN_joint_XX=46614;gnomADv4_1_AN_joint_XY=37398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9919;gnomADv4_1_nhomalt_joint_XX=5410;gnomADv4_1_nhomalt_joint_XY=4509;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2720986 chrX_2720986_T_G T G 55 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.715;CADD_Rawscore=-0.103625;CSQ=G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||5/9|ENST00000381184.6:c.262+562T>G|||||||rs311082||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2720986T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||4/8|ENST00000381187.8:c.214+562T>G|||||||rs311082||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2720986T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||5/9|ENST00000381192.10:c.262+562T>G|||||||rs311082||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2720986T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||5/7|ENST00000449611.6:n.391+562T>G|||||||rs311082||1||HGNC|HGNC:7082|5||||||||Ensembl||T|T||||chrX:g.2720986T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||4/6|ENST00000482293.6:n.263+562T>G|||||||rs311082||1||HGNC|HGNC:7082|2||||||||Ensembl||T|T||||chrX:g.2720986T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||5/8|ENST00000482405.7:c.262+562T>G|||||||rs311082||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2720986T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||2/4|ENST00000497752.7:n.707+562T>G|||||||rs311082||1||HGNC|HGNC:7082|2||||||||Ensembl||T|T||||chrX:g.2720986T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||5/10|ENST00000611428.5:c.262+562T>G|||||||rs311082||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2720986T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||5/10|ENST00000623253.4:c.262+562T>G|||||||rs311082||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2720986T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||5/9|ENST00000624481.4:c.262+562T>G|||||||rs311082||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2720986T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||5/6|ENST00000645950.1:n.328+562T>G|||||||rs311082||1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2720986T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000647297|retained_intron||||||||||rs311082|2968|1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2720986T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||4/8|NM_001122898.3:c.214+562T>G|||||||rs311082||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2720986T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||5/8|NM_001321367.2:c.262+562T>G|||||||rs311082||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2720986T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||5/9|NM_001321368.2:c.262+562T>G|||||||rs311082||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2720986T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||4/8|NM_001321369.2:c.214+562T>G|||||||rs311082||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2720986T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||5/8|NM_001321370.2:c.262+562T>G|||||||rs311082||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2720986T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||5/9|NM_002414.5:c.262+562T>G|||||||rs311082||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2720986T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||5/10|NR_135623.2:n.328+562T>G|||||||rs311082||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2720986T>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-36|14|30|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,ENST00000647297,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=117240;gnomADv4_1_AC_joint_XX=59809;gnomADv4_1_AC_joint_XY=57431;gnomADv4_1_AF_grpmax_joint=0.83351;gnomADv4_1_AF_joint=0.770951;gnomADv4_1_AF_joint_XX=0.769485;gnomADv4_1_AF_joint_XY=0.772483;gnomADv4_1_AN_grpmax_joint=41486;gnomADv4_1_AN_joint=152072;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=45579;gnomADv4_1_nhomalt_joint_XX=23185;gnomADv4_1_nhomalt_joint_XY=22394;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2723161 chrX_2723161_A_C A C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.39;CADD_Rawscore=0.068103;CSQ=C|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs3828932|3180|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||6/9|ENST00000381184.6:c.311-153A>C|||||||rs3828932||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||5/8|ENST00000381187.8:c.263-153A>C|||||||rs3828932||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||6/9|ENST00000381192.10:c.311-153A>C|||||||rs3828932||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||6/7|ENST00000449611.6:n.440-153A>C|||||||rs3828932||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||5/6|ENST00000482293.6:n.312-153A>C|||||||rs3828932||1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||6/8|ENST00000482405.7:c.311-153A>C|||||||rs3828932||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||3/4|ENST00000497752.7:n.756-153A>C|||||||rs3828932||1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||6/10|ENST00000611428.5:c.311-153A>C|||||||rs3828932||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||6/10|ENST00000623253.4:c.311-153A>C|||||||rs3828932||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||6/9|ENST00000624481.4:c.311-153A>C|||||||rs3828932||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||6/6|ENST00000645950.1:n.377-153A>C|||||||rs3828932||1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||5/8|NM_001122898.3:c.263-153A>C|||||||rs3828932||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||6/8|NM_001321367.2:c.311-153A>C|||||||rs3828932||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||6/9|NM_001321368.2:c.311-153A>C|||||||rs3828932||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||5/8|NM_001321369.2:c.263-153A>C|||||||rs3828932||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||6/8|NM_001321370.2:c.310+487A>C|||||||rs3828932||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||6/9|NM_002414.5:c.311-153A>C|||||||rs3828932||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2723161A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||6/10|NR_135623.2:n.377-153A>C|||||||rs3828932||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2723161A>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|12|2|35|2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62593;gnomADv4_1_AC_joint_XX=31037;gnomADv4_1_AC_joint_XY=31556;gnomADv4_1_AF_grpmax_joint=0.3675;gnomADv4_1_AF_joint=0.317492;gnomADv4_1_AF_joint_XX=0.306696;gnomADv4_1_AF_joint_XY=0.32888;gnomADv4_1_AN_grpmax_joint=400;gnomADv4_1_AN_joint=197148;gnomADv4_1_AN_joint_XX=101198;gnomADv4_1_AN_joint_XY=95950;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=10379;gnomADv4_1_nhomalt_joint_XX=5006;gnomADv4_1_nhomalt_joint_XY=5373;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2723532 chrX_2723532_T_TC T TC 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.695;CADDIndel_Rawscore=-0.110763;CSQ=C|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs3833674|2808|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl|||||||chrX:g.2723537dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||7/9|ENST00000381184.6:c.361+173dup|||||||rs3833674||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||5|chrX:g.2723537dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||6/8|ENST00000381187.8:c.313+173dup|||||||rs3833674||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||5|chrX:g.2723537dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||7/9|ENST00000381192.10:c.361+173dup|||||||rs3833674||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||5|chrX:g.2723537dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||7/7|ENST00000449611.6:n.490+173dup|||||||rs3833674||1||HGNC|HGNC:7082|5||||||||Ensembl||||||5|chrX:g.2723537dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||6/6|ENST00000482293.6:n.362+173dup|||||||rs3833674||1||HGNC|HGNC:7082|2||||||||Ensembl||||||5|chrX:g.2723537dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||7/8|ENST00000482405.7:c.361+173dup|||||||rs3833674||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||5|chrX:g.2723537dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||4/4|ENST00000497752.7:n.806+173dup|||||||rs3833674||1||HGNC|HGNC:7082|2||||||||Ensembl||||||5|chrX:g.2723537dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||7/10|ENST00000611428.5:c.361+173dup|||||||rs3833674||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||5|chrX:g.2723537dup|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||7/10|ENST00000623253.4:c.361+173dup|||||||rs3833674||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||5|chrX:g.2723537dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||7/9|ENST00000624481.4:c.361+173dup|||||||rs3833674||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||5|chrX:g.2723537dup|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||||||||||rs3833674|98|1||HGNC|HGNC:7082|||||||||Ensembl|||||||chrX:g.2723537dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||6/8|NM_001122898.3:c.313+173dup|||||||rs3833674||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||5|chrX:g.2723537dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||7/8|NM_001321367.2:c.361+173dup|||||||rs3833674||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||5|chrX:g.2723537dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||7/9|NM_001321368.2:c.361+173dup|||||||rs3833674||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||5|chrX:g.2723537dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||6/8|NM_001321369.2:c.313+173dup|||||||rs3833674||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||5|chrX:g.2723537dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||6/8|NM_001321370.2:c.310+863dup|||||||rs3833674||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||5|chrX:g.2723537dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||7/9|NM_002414.5:c.361+173dup|||||||rs3833674||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||5|chrX:g.2723537dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||7/10|NR_135623.2:n.427+173dup|||||||rs3833674||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||5|chrX:g.2723537dup|||||||||||||;SpliceAI=TC|CD99|0.00|0.00|0.00|0.00|-3|-6|-49|-2;TYPE=INDEL;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=279606;gnomADv4_1_AC_joint_XX=137026;gnomADv4_1_AC_joint_XY=142580;gnomADv4_1_AF_grpmax_joint=0.738058;gnomADv4_1_AF_joint=0.385516;gnomADv4_1_AF_joint_XX=0.392099;gnomADv4_1_AF_joint_XY=0.379394;gnomADv4_1_AN_grpmax_joint=57192;gnomADv4_1_AN_joint=725278;gnomADv4_1_AN_joint_XX=349468;gnomADv4_1_AN_joint_XY=375810;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=61084;gnomADv4_1_nhomalt_joint_XX=30238;gnomADv4_1_nhomalt_joint_XY=30846;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2724525 chrX_2724525_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.558;CADD_Rawscore=0.098016;CSQ=T|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs312188|1816|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2724525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||7/9|ENST00000381184.6:c.361+1161C>T|||||||rs312188||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2724525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||6/8|ENST00000381187.8:c.313+1161C>T|||||||rs312188||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2724525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||7/9|ENST00000381192.10:c.361+1161C>T|||||||rs312188||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2724525C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||7/7|ENST00000449611.6:n.490+1161C>T|||||||rs312188||1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2724525C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||6/6|ENST00000482293.6:n.362+1161C>T|||||||rs312188||1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2724525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||7/8|ENST00000482405.7:c.361+1161C>T|||||||rs312188||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2724525C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||4/4|ENST00000497752.7:n.806+1161C>T|||||||rs312188||1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2724525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||7/10|ENST00000611428.5:c.361+1161C>T|||||||rs312188||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2724525C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||7/10|ENST00000623253.4:c.361+1161C>T|||||||rs312188||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2724525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||7/9|ENST00000624481.4:c.361+1161C>T|||||||rs312188||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2724525C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||||||||||rs312188|1091|1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2724525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||6/8|NM_001122898.3:c.313+1161C>T|||||||rs312188||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2724525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||7/8|NM_001321367.2:c.361+1161C>T|||||||rs312188||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2724525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||7/9|NM_001321368.2:c.361+1161C>T|||||||rs312188||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2724525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||6/8|NM_001321369.2:c.313+1161C>T|||||||rs312188||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2724525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||6/8|NM_001321370.2:c.311-1735C>T|||||||rs312188||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2724525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||7/9|NM_002414.5:c.361+1161C>T|||||||rs312188||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2724525C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||7/10|NR_135623.2:n.427+1161C>T|||||||rs312188||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2724525C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|-34|-32|-33|-32;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71517;gnomADv4_1_AC_joint_XX=37719;gnomADv4_1_AC_joint_XY=33798;gnomADv4_1_AF_grpmax_joint=0.804892;gnomADv4_1_AF_joint=0.470408;gnomADv4_1_AF_joint_XX=0.485444;gnomADv4_1_AF_joint_XY=0.45469;gnomADv4_1_AN_grpmax_joint=41500;gnomADv4_1_AN_joint=152032;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20357;gnomADv4_1_nhomalt_joint_XX=10922;gnomADv4_1_nhomalt_joint_XY=9435;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2724771 chrX_2724771_C_G C G 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.344;CADD_Rawscore=-0.287014;CSQ=G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs312189|1570|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2724771C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||7/9|ENST00000381184.6:c.361+1407C>G|||||||rs312189||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2724771C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||6/8|ENST00000381187.8:c.313+1407C>G|||||||rs312189||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2724771C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||7/9|ENST00000381192.10:c.361+1407C>G|||||||rs312189||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2724771C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||7/7|ENST00000449611.6:n.490+1407C>G|||||||rs312189||1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2724771C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||6/6|ENST00000482293.6:n.362+1407C>G|||||||rs312189||1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2724771C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||7/8|ENST00000482405.7:c.361+1407C>G|||||||rs312189||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2724771C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||4/4|ENST00000497752.7:n.806+1407C>G|||||||rs312189||1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2724771C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||7/10|ENST00000611428.5:c.361+1407C>G|||||||rs312189||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2724771C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||7/10|ENST00000623253.4:c.361+1407C>G|||||||rs312189||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2724771C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||7/9|ENST00000624481.4:c.361+1407C>G|||||||rs312189||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2724771C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||||||||||rs312189|1337|1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2724771C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||6/8|NM_001122898.3:c.313+1407C>G|||||||rs312189||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2724771C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||7/8|NM_001321367.2:c.361+1407C>G|||||||rs312189||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2724771C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||7/9|NM_001321368.2:c.361+1407C>G|||||||rs312189||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2724771C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||6/8|NM_001321369.2:c.313+1407C>G|||||||rs312189||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2724771C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||6/8|NM_001321370.2:c.311-1489C>G|||||||rs312189||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2724771C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||7/9|NM_002414.5:c.361+1407C>G|||||||rs312189||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2724771C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||7/10|NR_135623.2:n.427+1407C>G|||||||rs312189||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2724771C>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|7|14|-48|14;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66355;gnomADv4_1_AC_joint_XX=34755;gnomADv4_1_AC_joint_XY=31600;gnomADv4_1_AF_grpmax_joint=0.693978;gnomADv4_1_AF_joint=0.437606;gnomADv4_1_AF_joint_XX=0.448012;gnomADv4_1_AF_joint_XY=0.426704;gnomADv4_1_AN_grpmax_joint=41314;gnomADv4_1_AN_joint=151632;gnomADv4_1_AN_joint_XX=77576;gnomADv4_1_AN_joint_XY=74056;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=16660;gnomADv4_1_nhomalt_joint_XX=8773;gnomADv4_1_nhomalt_joint_XY=7887;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2725050 chrX_2725050_A_G A G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.494;CADD_Rawscore=0.223086;CSQ=G|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs67042191|1291|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||A|A||||chrX:g.2725050A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||7/9|ENST00000381184.6:c.362-1210A>G|||||||rs67042191||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2725050A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||6/8|ENST00000381187.8:c.314-1210A>G|||||||rs67042191||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2725050A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||7/9|ENST00000381192.10:c.362-1210A>G|||||||rs67042191||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2725050A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||7/7|ENST00000449611.6:n.491-1210A>G|||||||rs67042191||1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2725050A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||6/6|ENST00000482293.6:n.363-1210A>G|||||||rs67042191||1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2725050A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||7/8|ENST00000482405.7:c.362-1210A>G|||||||rs67042191||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2725050A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||4/4|ENST00000497752.7:n.807-1210A>G|||||||rs67042191||1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2725050A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||7/10|ENST00000611428.5:c.362-1210A>G|||||||rs67042191||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2725050A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||7/10|ENST00000623253.4:c.362-1210A>G|||||||rs67042191||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2725050A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||7/9|ENST00000624481.4:c.362-1210A>G|||||||rs67042191||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2725050A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||||||||||rs67042191|1616|1||HGNC|HGNC:7082|||||||||Ensembl||A|A||||chrX:g.2725050A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||6/8|NM_001122898.3:c.314-1210A>G|||||||rs67042191||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2725050A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||7/8|NM_001321367.2:c.362-1210A>G|||||||rs67042191||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2725050A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||7/9|NM_001321368.2:c.362-1210A>G|||||||rs67042191||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2725050A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||6/8|NM_001321369.2:c.314-1210A>G|||||||rs67042191||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2725050A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||6/8|NM_001321370.2:c.311-1210A>G|||||||rs67042191||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2725050A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||7/9|NM_002414.5:c.362-1210A>G|||||||rs67042191||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2725050A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||7/10|NR_135623.2:n.428-1210A>G|||||||rs67042191||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2725050A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|1|-4|-47|6;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39491;gnomADv4_1_AC_joint_XX=18969;gnomADv4_1_AC_joint_XY=20522;gnomADv4_1_AF_grpmax_joint=0.363526;gnomADv4_1_AF_joint=0.26228;gnomADv4_1_AF_joint_XX=0.245738;gnomADv4_1_AF_joint_XY=0.279683;gnomADv4_1_AN_grpmax_joint=67544;gnomADv4_1_AN_joint=150568;gnomADv4_1_AN_joint_XX=77192;gnomADv4_1_AN_joint_XY=73376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6669;gnomADv4_1_nhomalt_joint_XX=3081;gnomADv4_1_nhomalt_joint_XY=3588;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2725330 chrX_2725330_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.362;CADD_Rawscore=-0.2746;CSQ=C|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs312190|1011|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||T|T||||chrX:g.2725330T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||7/9|ENST00000381184.6:c.362-930T>C|||||||rs312190||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2725330T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||6/8|ENST00000381187.8:c.314-930T>C|||||||rs312190||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2725330T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||7/9|ENST00000381192.10:c.362-930T>C|||||||rs312190||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2725330T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||7/7|ENST00000449611.6:n.491-930T>C|||||||rs312190||1||HGNC|HGNC:7082|5||||||||Ensembl||T|T||||chrX:g.2725330T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||6/6|ENST00000482293.6:n.363-930T>C|||||||rs312190||1||HGNC|HGNC:7082|2||||||||Ensembl||T|T||||chrX:g.2725330T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||7/8|ENST00000482405.7:c.362-930T>C|||||||rs312190||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2725330T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||4/4|ENST00000497752.7:n.807-930T>C|||||||rs312190||1||HGNC|HGNC:7082|2||||||||Ensembl||T|T||||chrX:g.2725330T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||7/10|ENST00000611428.5:c.362-930T>C|||||||rs312190||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2725330T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||7/10|ENST00000623253.4:c.362-930T>C|||||||rs312190||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2725330T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||7/9|ENST00000624481.4:c.362-930T>C|||||||rs312190||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2725330T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||||||||||rs312190|1896|1||HGNC|HGNC:7082|||||||||Ensembl||T|T||||chrX:g.2725330T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||6/8|NM_001122898.3:c.314-930T>C|||||||rs312190||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2725330T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||7/8|NM_001321367.2:c.362-930T>C|||||||rs312190||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2725330T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||7/9|NM_001321368.2:c.362-930T>C|||||||rs312190||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2725330T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||6/8|NM_001321369.2:c.314-930T>C|||||||rs312190||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2725330T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||6/8|NM_001321370.2:c.311-930T>C|||||||rs312190||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2725330T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||7/9|NM_002414.5:c.362-930T>C|||||||rs312190||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2725330T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||7/10|NR_135623.2:n.428-930T>C|||||||rs312190||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2725330T>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|-45|40|9|8;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64533;gnomADv4_1_AC_joint_XX=33616;gnomADv4_1_AC_joint_XY=30917;gnomADv4_1_AF_grpmax_joint=0.650276;gnomADv4_1_AF_joint=0.426079;gnomADv4_1_AF_joint_XX=0.433833;gnomADv4_1_AF_joint_XY=0.417955;gnomADv4_1_AN_grpmax_joint=41344;gnomADv4_1_AN_joint=151458;gnomADv4_1_AN_joint_XX=77486;gnomADv4_1_AN_joint_XY=73972;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=15408;gnomADv4_1_nhomalt_joint_XX=8003;gnomADv4_1_nhomalt_joint_XY=7405;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2725652 chrX_2725652_C_T C T 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=1.705;CADD_Rawscore=0.121761;CSQ=T|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs28391395|689|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2725652C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||7/9|ENST00000381184.6:c.362-608C>T|||||||rs28391395||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2725652C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||6/8|ENST00000381187.8:c.314-608C>T|||||||rs28391395||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2725652C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||7/9|ENST00000381192.10:c.362-608C>T|||||||rs28391395||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2725652C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||7/7|ENST00000449611.6:n.491-608C>T|||||||rs28391395||1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2725652C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||6/6|ENST00000482293.6:n.363-608C>T|||||||rs28391395||1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2725652C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||7/8|ENST00000482405.7:c.362-608C>T|||||||rs28391395||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2725652C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||4/4|ENST00000497752.7:n.807-608C>T|||||||rs28391395||1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2725652C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||7/10|ENST00000611428.5:c.362-608C>T|||||||rs28391395||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2725652C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||7/10|ENST00000623253.4:c.362-608C>T|||||||rs28391395||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2725652C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||7/9|ENST00000624481.4:c.362-608C>T|||||||rs28391395||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2725652C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||||||||||rs28391395|2218|1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2725652C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||6/8|NM_001122898.3:c.314-608C>T|||||||rs28391395||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2725652C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||7/8|NM_001321367.2:c.362-608C>T|||||||rs28391395||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2725652C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||7/9|NM_001321368.2:c.362-608C>T|||||||rs28391395||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2725652C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||6/8|NM_001321369.2:c.314-608C>T|||||||rs28391395||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2725652C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||6/8|NM_001321370.2:c.311-608C>T|||||||rs28391395||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2725652C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||7/9|NM_002414.5:c.362-608C>T|||||||rs28391395||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2725652C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||7/10|NR_135623.2:n.428-608C>T|||||||rs28391395||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2725652C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|7|-17|-15|-17;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18252;gnomADv4_1_AC_joint_XX=10184;gnomADv4_1_AC_joint_XY=8068;gnomADv4_1_AF_grpmax_joint=0.170749;gnomADv4_1_AF_joint=0.120014;gnomADv4_1_AF_joint_XX=0.130957;gnomADv4_1_AF_joint_XY=0.108563;gnomADv4_1_AN_grpmax_joint=15268;gnomADv4_1_AN_joint=152082;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1360;gnomADv4_1_nhomalt_joint_XX=865;gnomADv4_1_nhomalt_joint_XY=495;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2725878 chrX_2725878_G_C G C 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=1.47;CADD_Rawscore=0.082834;CSQ=C|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs28742178|463|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2725878G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||7/9|ENST00000381184.6:c.362-382G>C|||||||rs28742178||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2725878G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||6/8|ENST00000381187.8:c.314-382G>C|||||||rs28742178||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2725878G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||7/9|ENST00000381192.10:c.362-382G>C|||||||rs28742178||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2725878G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||7/7|ENST00000449611.6:n.491-382G>C|||||||rs28742178||1||HGNC|HGNC:7082|5||||||||Ensembl||G|G||||chrX:g.2725878G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||6/6|ENST00000482293.6:n.363-382G>C|||||||rs28742178||1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2725878G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||7/8|ENST00000482405.7:c.362-382G>C|||||||rs28742178||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2725878G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||4/4|ENST00000497752.7:n.807-382G>C|||||||rs28742178||1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2725878G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||7/10|ENST00000611428.5:c.362-382G>C|||||||rs28742178||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2725878G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||7/10|ENST00000623253.4:c.362-382G>C|||||||rs28742178||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2725878G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||7/9|ENST00000624481.4:c.362-382G>C|||||||rs28742178||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2725878G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||||||||||rs28742178|2444|1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2725878G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||6/8|NM_001122898.3:c.314-382G>C|||||||rs28742178||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2725878G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||7/8|NM_001321367.2:c.362-382G>C|||||||rs28742178||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2725878G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||7/9|NM_001321368.2:c.362-382G>C|||||||rs28742178||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2725878G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||6/8|NM_001321369.2:c.314-382G>C|||||||rs28742178||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2725878G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||6/8|NM_001321370.2:c.311-382G>C|||||||rs28742178||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2725878G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||7/9|NM_002414.5:c.362-382G>C|||||||rs28742178||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2725878G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||7/10|NR_135623.2:n.428-382G>C|||||||rs28742178||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2725878G>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|-29|39|14|-3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21082;gnomADv4_1_AC_joint_XX=11853;gnomADv4_1_AC_joint_XY=9229;gnomADv4_1_AF_grpmax_joint=0.177852;gnomADv4_1_AF_joint=0.138528;gnomADv4_1_AF_joint_XX=0.152352;gnomADv4_1_AF_joint_XY=0.124069;gnomADv4_1_AN_grpmax_joint=15288;gnomADv4_1_AN_joint=152186;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74386;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1526;gnomADv4_1_nhomalt_joint_XX=967;gnomADv4_1_nhomalt_joint_XY=559;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2726261 chrX_2726261_C_T C T 28 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=28;CADD_PHREDscore=0.013;CADD_Rawscore=-1.17798;CSQ=T|upstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs1136470|80|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2726261C>T|||||||||||||,T|splice_region_variant&synonymous_variant|LOW|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding|8/10||ENST00000381184.6%3Ac.363C>T|ENSP00000370579.1%3Ap.Ala121%3D|444|363|121|A|gcC/gcT|rs1136470||1||HGNC|HGNC%3A7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX%3Ag.2726261C>T|||||||||||||,T|splice_region_variant&synonymous_variant|LOW|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding|7/9||ENST00000381187.8%3Ac.315C>T|ENSP00000370582.3%3Ap.Ala105%3D|400|315|105|A|gcC/gcT|rs1136470||1||HGNC|HGNC%3A7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX%3Ag.2726261C>T|||||||||||||,T|splice_region_variant&synonymous_variant|LOW|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding|8/10||ENST00000381192.10%3Ac.363C>T|ENSP00000370588.3%3Ap.Ala121%3D|429|363|121|A|gcC/gcT|rs1136470||1||HGNC|HGNC%3A7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX%3Ag.2726261C>T|||||||||||||,T|splice_region_variant&non_coding_transcript_exon_variant|LOW|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined|8/8||ENST00000449611.6:n.492C>T||492|||||rs1136470||1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2726261C>T|||||||||||||,T|splice_region_variant&non_coding_transcript_exon_variant|LOW|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined|7/7||ENST00000482293.6:n.364C>T||364|||||rs1136470||1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2726261C>T|||||||||||||,T|splice_region_variant&synonymous_variant|LOW|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding|8/9||ENST00000482405.7%3Ac.363C>T|ENSP00000494027.1%3Ap.Ala121%3D|414|363|121|A|gcC/gcT|rs1136470||1||HGNC|HGNC%3A7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX%3Ag.2726261C>T|||||||||||||,T|splice_region_variant&non_coding_transcript_exon_variant|LOW|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron|5/5||ENST00000497752.7:n.808C>T||808|||||rs1136470||1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2726261C>T|||||||||||||,T|splice_region_variant&synonymous_variant|LOW|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding|8/11||ENST00000611428.5%3Ac.363C>T|ENSP00000479999.1%3Ap.Ala121%3D|537|363|121|A|gcC/gcT|rs1136470||1||HGNC|HGNC%3A7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX%3Ag.2726261C>T|||||||||||||,T|splice_region_variant&synonymous_variant&NMD_transcript_variant|LOW|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay|8/11||ENST00000623253.4%3Ac.363C>T|ENSP00000485545.1%3Ap.Ala121%3D|363|363|121|A|gcC/gcT|rs1136470||1||HGNC|HGNC%3A7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX%3Ag.2726261C>T|||||||||||||,T|splice_region_variant&synonymous_variant|LOW|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding|8/10||ENST00000624481.4%3Ac.363C>T|ENSP00000485427.1%3Ap.Ala121%3D|411|363|121|A|gcC/gcT|rs1136470||1||HGNC|HGNC%3A7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX%3Ag.2726261C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||||||||||rs1136470|2827|1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2726261C>T|||||||||||||,T|splice_region_variant&synonymous_variant|LOW|CD99|4267|Transcript|NM_001122898.3|protein_coding|7/9||NM_001122898.3%3Ac.315C>T|NP_001116370.1%3Ap.Ala105%3D|381|315|105|A|gcC/gcT|rs1136470||1||EntrezGene|HGNC%3A7082|||NP_001116370.1||||||RefSeq||C|C||||chrX%3Ag.2726261C>T|||||||||||||,T|splice_region_variant&synonymous_variant|LOW|CD99|4267|Transcript|NM_001321367.2|protein_coding|8/9||NM_001321367.2%3Ac.363C>T|NP_001308296.1%3Ap.Ala121%3D|429|363|121|A|gcC/gcT|rs1136470||1||EntrezGene|HGNC%3A7082|||NP_001308296.1||||||RefSeq||C|C||||chrX%3Ag.2726261C>T|||||||||||||,T|splice_region_variant&synonymous_variant|LOW|CD99|4267|Transcript|NM_001321368.2|protein_coding|8/10||NM_001321368.2%3Ac.363C>T|NP_001308297.1%3Ap.Ala121%3D|429|363|121|A|gcC/gcT|rs1136470||1||EntrezGene|HGNC%3A7082|||NP_001308297.1||||||RefSeq||C|C||||chrX%3Ag.2726261C>T|||||||||||||,T|splice_region_variant&synonymous_variant|LOW|CD99|4267|Transcript|NM_001321369.2|protein_coding|7/9||NM_001321369.2%3Ac.315C>T|NP_001308298.1%3Ap.Ala105%3D|381|315|105|A|gcC/gcT|rs1136470||1||EntrezGene|HGNC%3A7082|||NP_001308298.1||||||RefSeq||C|C||||chrX%3Ag.2726261C>T|||||||||||||,T|splice_region_variant&synonymous_variant|LOW|CD99|4267|Transcript|NM_001321370.2|protein_coding|7/9||NM_001321370.2%3Ac.312C>T|NP_001308299.1%3Ap.Ala104%3D|378|312|104|A|gcC/gcT|rs1136470||1||EntrezGene|HGNC%3A7082|||NP_001308299.1||||||RefSeq||C|C||||chrX%3Ag.2726261C>T|||||||||||||,T|splice_region_variant&synonymous_variant|LOW|CD99|4267|Transcript|NM_002414.5|protein_coding|8/10||NM_002414.5%3Ac.363C>T|NP_002405.1%3Ap.Ala121%3D|429|363|121|A|gcC/gcT|rs1136470||1||EntrezGene|HGNC%3A7082|||NP_002405.1||||||RefSeq||C|C||||chrX%3Ag.2726261C>T|||||||||||||,T|splice_region_variant&non_coding_transcript_exon_variant|LOW|CD99|4267|Transcript|NR_135623.2|misc_RNA|8/11||NR_135623.2:n.429C>T||429|||||rs1136470||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2726261C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|-1|11|-1|-43;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=218840;gnomADv4_1_AC_joint_XX=123018;gnomADv4_1_AC_joint_XY=95822;gnomADv4_1_AF_grpmax_joint=0.209915;gnomADv4_1_AF_joint=0.13662;gnomADv4_1_AF_joint_XX=0.15265;gnomADv4_1_AF_joint_XY=0.120389;gnomADv4_1_AN_grpmax_joint=59948;gnomADv4_1_AN_joint=1601818;gnomADv4_1_AN_joint_XX=805884;gnomADv4_1_AN_joint_XY=795934;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=15481;gnomADv4_1_nhomalt_joint_XX=9845;gnomADv4_1_nhomalt_joint_XY=5636;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2726475 chrX_2726475_G_T G T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.611;CADD_Rawscore=-0.142854;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+102G>T|||||||rs312191||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2726475G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||8/9|ENST00000381184.6:c.475+102G>T|||||||rs312191||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2726475G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+102G>T|||||||rs312191||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2726475G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+102G>T|||||||rs312191||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2726475G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs312191|102|1||HGNC|HGNC:7082|5||||||||Ensembl||G|G||||chrX:g.2726475G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs312191|112|1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2726475G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.475+102G>T|||||||rs312191||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2726475G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs312191|207|1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2726475G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.475+102G>T|||||||rs312191||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2726475G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.475+102G>T|||||||rs312191||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2726475G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+102G>T|||||||rs312191||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2726475G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||||||||||rs312191|3041|1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2726475G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+102G>T|||||||rs312191||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2726475G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.475+102G>T|||||||rs312191||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2726475G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+102G>T|||||||rs312191||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2726475G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+102G>T|||||||rs312191||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2726475G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+102G>T|||||||rs312191||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2726475G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+102G>T|||||||rs312191||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2726475G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.541+102G>T|||||||rs312191||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2726475G>T|||||||||||||;SpliceAI=T|CD99|0.01|0.00|0.01|0.00|-32|0|16|-1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=110470;gnomADv4_1_AC_joint_XX=48772;gnomADv4_1_AC_joint_XY=61698;gnomADv4_1_AF_grpmax_joint=0.195361;gnomADv4_1_AF_joint=0.142854;gnomADv4_1_AF_joint_XX=0.133873;gnomADv4_1_AF_joint_XY=0.150854;gnomADv4_1_AN_grpmax_joint=59280;gnomADv4_1_AN_joint=773308;gnomADv4_1_AN_joint_XX=364316;gnomADv4_1_AN_joint_XY=408992;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9542;gnomADv4_1_nhomalt_joint_XX=3840;gnomADv4_1_nhomalt_joint_XY=5702;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2726690 chrX_2726690_AGCC_A AGCC A 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=1.352;CADDIndel_Rawscore=0.060775;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+320_33+322del|||||||rs55702800||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||GCC|GCC|||2|chrX:g.2726693_2726695del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||8/9|ENST00000381184.6:c.475+320_475+322del|||||||rs55702800||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||GCC|GCC|||2|chrX:g.2726693_2726695del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+320_427+322del|||||||rs55702800||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||GCC|GCC|||2|chrX:g.2726693_2726695del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+320_475+322del|||||||rs55702800||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||GCC|GCC|||2|chrX:g.2726693_2726695del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs55702800|318|1||HGNC|HGNC:7082|5||||||||Ensembl||GCC|GCC||||chrX:g.2726693_2726695del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs55702800|328|1||HGNC|HGNC:7082|2||||||||Ensembl||GCC|GCC||||chrX:g.2726693_2726695del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.475+320_475+322del|||||||rs55702800||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||GCC|GCC|||2|chrX:g.2726693_2726695del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs55702800|423|1||HGNC|HGNC:7082|2||||||||Ensembl||GCC|GCC||||chrX:g.2726693_2726695del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.475+320_475+322del|||||||rs55702800||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||GCC|GCC|||2|chrX:g.2726693_2726695del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.475+320_475+322del|||||||rs55702800||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||GCC|GCC|||2|chrX:g.2726693_2726695del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+320_475+322del|||||||rs55702800||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||GCC|GCC|||2|chrX:g.2726693_2726695del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||||||||||rs55702800|3257|1||HGNC|HGNC:7082|||||||||Ensembl||GCC|GCC||||chrX:g.2726693_2726695del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+320_427+322del|||||||rs55702800||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||GCC|GCC|||2|chrX:g.2726693_2726695del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.475+320_475+322del|||||||rs55702800||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||GCC|GCC|||2|chrX:g.2726693_2726695del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+320_475+322del|||||||rs55702800||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||GCC|GCC|||2|chrX:g.2726693_2726695del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+320_427+322del|||||||rs55702800||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||GCC|GCC|||2|chrX:g.2726693_2726695del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+320_424+322del|||||||rs55702800||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||GCC|GCC|||2|chrX:g.2726693_2726695del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+320_475+322del|||||||rs55702800||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||GCC|GCC|||2|chrX:g.2726693_2726695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.541+320_541+322del|||||||rs55702800||1||EntrezGene|HGNC:7082|||||||||RefSeq||GCC|GCC|||2|chrX:g.2726693_2726695del|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|32|-3|-32|31;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28332;gnomADv4_1_AC_joint_XX=15743;gnomADv4_1_AC_joint_XY=12589;gnomADv4_1_AF_grpmax_joint=0.227891;gnomADv4_1_AF_joint=0.186329;gnomADv4_1_AF_joint_XX=0.20256;gnomADv4_1_AF_joint_XY=0.169357;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152054;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2616;gnomADv4_1_nhomalt_joint_XX=1587;gnomADv4_1_nhomalt_joint_XY=1029;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2727325 chrX_2727325_G_C G C 39 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.552;CADD_Rawscore=0.097004;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+952G>C|||||||rs311083||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2727325G>C|||||||||||||,C|missense_variant|MODERATE|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding|9/10||ENST00000381184.6:c.508G>C|ENSP00000370579.1:p.Gly170Arg|589|508|170|G/R|Ggg/Cgg|rs311083||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2727325G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+952G>C|||||||rs311083||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2727325G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+952G>C|||||||rs311083||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2727325G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs311083|952|1||HGNC|HGNC:7082|5||||||||Ensembl||G|G||||chrX:g.2727325G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs311083|962|1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2727325G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.475+952G>C|||||||rs311083||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2727325G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs311083|1057|1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2727325G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.475+952G>C|||||||rs311083||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2727325G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.475+952G>C|||||||rs311083||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2727325G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+952G>C|||||||rs311083||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2727325G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||||||||||rs311083|3891|1||HGNC|HGNC:7082|||||||||Ensembl||G|G||||chrX:g.2727325G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+952G>C|||||||rs311083||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2727325G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.475+952G>C|||||||rs311083||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2727325G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+952G>C|||||||rs311083||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2727325G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+952G>C|||||||rs311083||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2727325G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+952G>C|||||||rs311083||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2727325G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+952G>C|||||||rs311083||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2727325G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.541+952G>C|||||||rs311083||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2727325G>C|||||||||||||;REVEL_score=0.069;SpliceAI=C|CD99|0.02|0.00|0.01|0.00|-32|48|22|-33;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=481420;gnomADv4_1_AC_joint_XX=235698;gnomADv4_1_AC_joint_XY=245722;gnomADv4_1_AF_grpmax_joint=0.871737;gnomADv4_1_AF_joint=0.618622;gnomADv4_1_AF_joint_XX=0.649499;gnomADv4_1_AF_joint_XY=0.591642;gnomADv4_1_AN_grpmax_joint=59152;gnomADv4_1_AN_joint=778214;gnomADv4_1_AN_joint_XX=362892;gnomADv4_1_AN_joint_XY=415322;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=154069;gnomADv4_1_nhomalt_joint_XX=78561;gnomADv4_1_nhomalt_joint_XY=75508;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2728392 chrX_2728392_C_T C T 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.28;CADD_Rawscore=-0.339667;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+2019C>T|||||||rs5939115||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2728392C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.526+1049C>T|||||||rs5939115||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2728392C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+2019C>T|||||||rs5939115||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2728392C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+2019C>T|||||||rs5939115||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2728392C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs5939115|2019|1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2728392C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs5939115|2029|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2728392C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.475+2019C>T|||||||rs5939115||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2728392C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs5939115|2124|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2728392C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.475+2019C>T|||||||rs5939115||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2728392C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.475+2019C>T|||||||rs5939115||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2728392C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+2019C>T|||||||rs5939115||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2728392C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000645950|retained_intron||||||||||rs5939115|4958|1||HGNC|HGNC:7082|||||||||Ensembl||C|C||||chrX:g.2728392C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+2019C>T|||||||rs5939115||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2728392C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.475+2019C>T|||||||rs5939115||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2728392C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+2019C>T|||||||rs5939115||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2728392C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+2019C>T|||||||rs5939115||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2728392C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+2019C>T|||||||rs5939115||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2728392C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+2019C>T|||||||rs5939115||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2728392C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.541+2019C>T|||||||rs5939115||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2728392C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|15|-14|-35|-14;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,ENST00000645950,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23268;gnomADv4_1_AC_joint_XX=13111;gnomADv4_1_AC_joint_XY=10157;gnomADv4_1_AF_grpmax_joint=0.188562;gnomADv4_1_AF_joint=0.153564;gnomADv4_1_AF_joint_XX=0.169174;gnomADv4_1_AF_joint_XY=0.13722;gnomADv4_1_AN_grpmax_joint=15178;gnomADv4_1_AN_joint=151520;gnomADv4_1_AN_joint_XX=77500;gnomADv4_1_AN_joint_XY=74020;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1825;gnomADv4_1_nhomalt_joint_XX=1176;gnomADv4_1_nhomalt_joint_XY=649;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2728834 chrX_2728834_CTTTTTTTTTTT_C;chrX_2728834_CT_C CT C 40 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=19;CADDIndel_PHREDscore=0.13;CADDIndel_Rawscore=-0.541927;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+2481del|||||||rs1332444102||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||T|T|||19|chrX:g.2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.526+1511del|||||||rs1332444102||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T|||19|chrX:g.2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+2481del|||||||rs1332444102||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T|||19|chrX:g.2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+2481del|||||||rs1332444102||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T|||19|chrX:g.2728854del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs1332444102|2462|1||HGNC|HGNC:7082|5||||||||Ensembl||T|T||||chrX:g.2728854del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs1332444102|2472|1||HGNC|HGNC:7082|2||||||||Ensembl||T|T||||chrX:g.2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.475+2481del|||||||rs1332444102||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T|||19|chrX:g.2728854del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs1332444102|2567|1||HGNC|HGNC:7082|2||||||||Ensembl||T|T||||chrX:g.2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.475+2481del|||||||rs1332444102||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T|||19|chrX:g.2728854del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.475+2481del|||||||rs1332444102||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T|||19|chrX:g.2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+2481del|||||||rs1332444102||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T|||19|chrX:g.2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+2481del|||||||rs1332444102||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T|||19|chrX:g.2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.475+2481del|||||||rs1332444102||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T|||19|chrX:g.2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+2481del|||||||rs1332444102||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T|||19|chrX:g.2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+2481del|||||||rs1332444102||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T|||19|chrX:g.2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+2481del|||||||rs1332444102||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T|||19|chrX:g.2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+2481del|||||||rs1332444102||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T|||19|chrX:g.2728854del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.541+2481del|||||||rs1332444102||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T|||19|chrX:g.2728854del|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|48|24|48|-40;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19931;gnomADv4_1_AC_joint_XX=11186;gnomADv4_1_AC_joint_XY=8745;gnomADv4_1_AF_grpmax_joint=0.291899;gnomADv4_1_AF_joint=0.16744;gnomADv4_1_AF_joint_XX=0.180175;gnomADv4_1_AF_joint_XY=0.153556;gnomADv4_1_AN_grpmax_joint=29058;gnomADv4_1_AN_joint=119034;gnomADv4_1_AN_joint_XX=62084;gnomADv4_1_AN_joint_XY=56950;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=709;gnomADv4_1_nhomalt_joint_XX=415;gnomADv4_1_nhomalt_joint_XY=294;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2728834 chrX_2728834_CTTTTTTTTTTT_C;chrX_2728834_CT_C CTTTTTTTTTTT C 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=40;CADDIndel_PHREDscore=0.742;CADDIndel_Rawscore=-0.094175;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+2471_33+2481del|||||||rs1332444102||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||TTTTTTTTTTT|TTTTTTTTTTT|||9|chrX:g.2728844_2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.526+1501_526+1511del|||||||rs1332444102||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||TTTTTTTTTTT|TTTTTTTTTTT|||9|chrX:g.2728844_2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+2471_427+2481del|||||||rs1332444102||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||TTTTTTTTTTT|TTTTTTTTTTT|||9|chrX:g.2728844_2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+2471_475+2481del|||||||rs1332444102||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||TTTTTTTTTTT|TTTTTTTTTTT|||9|chrX:g.2728844_2728854del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs1332444102|2462|1||HGNC|HGNC:7082|5||||||||Ensembl||TTTTTTTTTTT|TTTTTTTTTTT||||chrX:g.2728844_2728854del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs1332444102|2472|1||HGNC|HGNC:7082|2||||||||Ensembl||TTTTTTTTTTT|TTTTTTTTTTT||||chrX:g.2728844_2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.475+2471_475+2481del|||||||rs1332444102||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||TTTTTTTTTTT|TTTTTTTTTTT|||9|chrX:g.2728844_2728854del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs1332444102|2567|1||HGNC|HGNC:7082|2||||||||Ensembl||TTTTTTTTTTT|TTTTTTTTTTT||||chrX:g.2728844_2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.475+2471_475+2481del|||||||rs1332444102||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||TTTTTTTTTTT|TTTTTTTTTTT|||9|chrX:g.2728844_2728854del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.475+2471_475+2481del|||||||rs1332444102||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||TTTTTTTTTTT|TTTTTTTTTTT|||9|chrX:g.2728844_2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+2471_475+2481del|||||||rs1332444102||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||TTTTTTTTTTT|TTTTTTTTTTT|||9|chrX:g.2728844_2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+2471_427+2481del|||||||rs1332444102||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||TTTTTTTTTTT|TTTTTTTTTTT|||9|chrX:g.2728844_2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.475+2471_475+2481del|||||||rs1332444102||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||TTTTTTTTTTT|TTTTTTTTTTT|||9|chrX:g.2728844_2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+2471_475+2481del|||||||rs1332444102||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||TTTTTTTTTTT|TTTTTTTTTTT|||9|chrX:g.2728844_2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+2471_427+2481del|||||||rs1332444102||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||TTTTTTTTTTT|TTTTTTTTTTT|||9|chrX:g.2728844_2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+2471_424+2481del|||||||rs1332444102||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||TTTTTTTTTTT|TTTTTTTTTTT|||9|chrX:g.2728844_2728854del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+2471_475+2481del|||||||rs1332444102||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||TTTTTTTTTTT|TTTTTTTTTTT|||9|chrX:g.2728844_2728854del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.541+2471_541+2481del|||||||rs1332444102||1||EntrezGene|HGNC:7082|||||||||RefSeq||TTTTTTTTTTT|TTTTTTTTTTT|||9|chrX:g.2728844_2728854del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=501;gnomADv4_1_AC_joint_XX=206;gnomADv4_1_AC_joint_XY=295;gnomADv4_1_AF_grpmax_joint=0.0530973;gnomADv4_1_AF_joint=0.00418805;gnomADv4_1_AF_joint_XX=0.00329906;gnomADv4_1_AF_joint_XY=0.00515879;gnomADv4_1_AN_grpmax_joint=226;gnomADv4_1_AN_joint=119626;gnomADv4_1_AN_joint_XX=62442;gnomADv4_1_AN_joint_XY=57184;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=6;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2728916 chrX_2728916_A_AACCTCC A AACCTCC 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=1.102;CADDIndel_Rawscore=0.007413;CSQ=ACCTCC|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+2548_33+2549insCACCTC|||||||rs111446880||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||||||5|chrX:g.2728921_2728922insCACCTC|||||||||||||,ACCTCC|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.526+1578_526+1579insCACCTC|||||||rs111446880||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||5|chrX:g.2728921_2728922insCACCTC|||||||||||||,ACCTCC|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+2548_427+2549insCACCTC|||||||rs111446880||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||5|chrX:g.2728921_2728922insCACCTC|||||||||||||,ACCTCC|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+2548_475+2549insCACCTC|||||||rs111446880||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||5|chrX:g.2728921_2728922insCACCTC|||||||||||||,ACCTCC|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs111446880|2543|1||HGNC|HGNC:7082|5||||||||Ensembl|||||||chrX:g.2728921_2728922insCACCTC|||||||||||||,ACCTCC|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs111446880|2553|1||HGNC|HGNC:7082|2||||||||Ensembl|||||||chrX:g.2728921_2728922insCACCTC|||||||||||||,ACCTCC|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.475+2548_475+2549insCACCTC|||||||rs111446880||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||5|chrX:g.2728921_2728922insCACCTC|||||||||||||,ACCTCC|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs111446880|2648|1||HGNC|HGNC:7082|2||||||||Ensembl|||||||chrX:g.2728921_2728922insCACCTC|||||||||||||,ACCTCC|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.475+2548_475+2549insCACCTC|||||||rs111446880||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||5|chrX:g.2728921_2728922insCACCTC|||||||||||||,ACCTCC|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.475+2548_475+2549insCACCTC|||||||rs111446880||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||5|chrX:g.2728921_2728922insCACCTC|||||||||||||,ACCTCC|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+2548_475+2549insCACCTC|||||||rs111446880||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||5|chrX:g.2728921_2728922insCACCTC|||||||||||||,ACCTCC|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+2548_427+2549insCACCTC|||||||rs111446880||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||5|chrX:g.2728921_2728922insCACCTC|||||||||||||,ACCTCC|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.475+2548_475+2549insCACCTC|||||||rs111446880||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||5|chrX:g.2728921_2728922insCACCTC|||||||||||||,ACCTCC|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+2548_475+2549insCACCTC|||||||rs111446880||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||5|chrX:g.2728921_2728922insCACCTC|||||||||||||,ACCTCC|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+2548_427+2549insCACCTC|||||||rs111446880||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||5|chrX:g.2728921_2728922insCACCTC|||||||||||||,ACCTCC|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+2548_424+2549insCACCTC|||||||rs111446880||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||5|chrX:g.2728921_2728922insCACCTC|||||||||||||,ACCTCC|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+2548_475+2549insCACCTC|||||||rs111446880||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||5|chrX:g.2728921_2728922insCACCTC|||||||||||||,ACCTCC|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.541+2548_541+2549insCACCTC|||||||rs111446880||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||5|chrX:g.2728921_2728922insCACCTC|||||||||||||;TYPE=INDEL;VEP_Allele=ACCTCC,ACCTCC,ACCTCC,ACCTCC,ACCTCC,ACCTCC,ACCTCC,ACCTCC,ACCTCC,ACCTCC,ACCTCC,ACCTCC,ACCTCC,ACCTCC,ACCTCC,ACCTCC,ACCTCC,ACCTCC;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53604;gnomADv4_1_AC_joint_XX=29663;gnomADv4_1_AC_joint_XY=23941;gnomADv4_1_AF_grpmax_joint=0.729256;gnomADv4_1_AF_joint=0.361617;gnomADv4_1_AF_joint_XX=0.388208;gnomADv4_1_AF_joint_XY=0.333329;gnomADv4_1_AN_grpmax_joint=40204;gnomADv4_1_AN_joint=148234;gnomADv4_1_AN_joint_XX=76410;gnomADv4_1_AN_joint_XY=71824;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=13484;gnomADv4_1_nhomalt_joint_XX=7753;gnomADv4_1_nhomalt_joint_XY=5731;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2729072 chrX_2729072_T_TC T TC 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.901;CADDIndel_Rawscore=-0.044572;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+2706dup|||||||rs1033101410||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||||||7|chrX:g.2729079dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.526+1736dup|||||||rs1033101410||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||7|chrX:g.2729079dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+2706dup|||||||rs1033101410||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||7|chrX:g.2729079dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+2706dup|||||||rs1033101410||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||7|chrX:g.2729079dup|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs1033101410|2699|1||HGNC|HGNC:7082|5||||||||Ensembl|||||||chrX:g.2729079dup|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs1033101410|2709|1||HGNC|HGNC:7082|2||||||||Ensembl|||||||chrX:g.2729079dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.475+2706dup|||||||rs1033101410||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||7|chrX:g.2729079dup|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs1033101410|2804|1||HGNC|HGNC:7082|2||||||||Ensembl|||||||chrX:g.2729079dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.475+2706dup|||||||rs1033101410||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||7|chrX:g.2729079dup|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.475+2706dup|||||||rs1033101410||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||7|chrX:g.2729079dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+2706dup|||||||rs1033101410||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||7|chrX:g.2729079dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+2706dup|||||||rs1033101410||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||7|chrX:g.2729079dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.475+2706dup|||||||rs1033101410||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||7|chrX:g.2729079dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+2706dup|||||||rs1033101410||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||7|chrX:g.2729079dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+2706dup|||||||rs1033101410||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||7|chrX:g.2729079dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+2706dup|||||||rs1033101410||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||7|chrX:g.2729079dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+2706dup|||||||rs1033101410||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||7|chrX:g.2729079dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.541+2706dup|||||||rs1033101410||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||7|chrX:g.2729079dup|||||||||||||;SpliceAI=TC|CD99|0.00|0.00|0.00|0.00|-5|43|-6|43;TYPE=INDEL;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=518;gnomADv4_1_AC_joint_XX=217;gnomADv4_1_AC_joint_XY=301;gnomADv4_1_AF_grpmax_joint=0.0442177;gnomADv4_1_AF_joint=0.00341274;gnomADv4_1_AF_joint_XX=0.00279618;gnomADv4_1_AF_joint_XY=0.00405781;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151784;gnomADv4_1_AN_joint_XX=77606;gnomADv4_1_AN_joint_XY=74178;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8;gnomADv4_1_nhomalt_joint_XX=2;gnomADv4_1_nhomalt_joint_XY=6;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2729396 chrX_2729396_C_A C A 57 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.375;CADD_Rawscore=-0.265305;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+3023C>A|||||||rs311084||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2729396C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.526+2053C>A|||||||rs311084||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2729396C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+3023C>A|||||||rs311084||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2729396C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+3023C>A|||||||rs311084||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2729396C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs311084|3023|1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2729396C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs311084|3033|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2729396C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.475+3023C>A|||||||rs311084||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2729396C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs311084|3128|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2729396C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.475+3023C>A|||||||rs311084||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2729396C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.475+3023C>A|||||||rs311084||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2729396C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+3023C>A|||||||rs311084||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2729396C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+3023C>A|||||||rs311084||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2729396C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.475+3023C>A|||||||rs311084||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2729396C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+3023C>A|||||||rs311084||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2729396C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+3023C>A|||||||rs311084||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2729396C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+3023C>A|||||||rs311084||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2729396C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+3023C>A|||||||rs311084||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2729396C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.541+3023C>A|||||||rs311084||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2729396C>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|-12|-40|-12|11;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88909;gnomADv4_1_AC_joint_XX=45215;gnomADv4_1_AC_joint_XY=43694;gnomADv4_1_AF_grpmax_joint=0.641917;gnomADv4_1_AF_joint=0.58532;gnomADv4_1_AF_joint_XX=0.582008;gnomADv4_1_AF_joint_XY=0.588789;gnomADv4_1_AN_grpmax_joint=67920;gnomADv4_1_AN_joint=151898;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74210;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26586;gnomADv4_1_nhomalt_joint_XX=13431;gnomADv4_1_nhomalt_joint_XY=13155;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2729440 chrX_2729440_TA_T TA T 59 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADDIndel_PHREDscore=0.792;CADDIndel_Rawscore=-0.077759;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+3069del|||||||rs3835366||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||A|A|||1|chrX:g.2729442del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.526+2099del|||||||rs3835366||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A|||1|chrX:g.2729442del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+3069del|||||||rs3835366||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A|||1|chrX:g.2729442del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+3069del|||||||rs3835366||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A|||1|chrX:g.2729442del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs3835366|3068|1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2729442del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs3835366|3078|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2729442del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.475+3069del|||||||rs3835366||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A|||1|chrX:g.2729442del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs3835366|3173|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2729442del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.475+3069del|||||||rs3835366||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A|||1|chrX:g.2729442del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.475+3069del|||||||rs3835366||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A|||1|chrX:g.2729442del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+3069del|||||||rs3835366||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A|||1|chrX:g.2729442del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+3069del|||||||rs3835366||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A|||1|chrX:g.2729442del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.475+3069del|||||||rs3835366||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A|||1|chrX:g.2729442del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+3069del|||||||rs3835366||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A|||1|chrX:g.2729442del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+3069del|||||||rs3835366||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A|||1|chrX:g.2729442del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+3069del|||||||rs3835366||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A|||1|chrX:g.2729442del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+3069del|||||||rs3835366||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A|||1|chrX:g.2729442del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.541+3069del|||||||rs3835366||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A|||1|chrX:g.2729442del|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|-50|-49|22|-33;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=100869;gnomADv4_1_AC_joint_XX=51036;gnomADv4_1_AC_joint_XY=49833;gnomADv4_1_AF_grpmax_joint=0.799928;gnomADv4_1_AF_joint=0.664119;gnomADv4_1_AF_joint_XX=0.657088;gnomADv4_1_AF_joint_XY=0.671477;gnomADv4_1_AN_grpmax_joint=41470;gnomADv4_1_AN_joint=151884;gnomADv4_1_AN_joint_XX=77670;gnomADv4_1_AN_joint_XY=74214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=34463;gnomADv4_1_nhomalt_joint_XX=17285;gnomADv4_1_nhomalt_joint_XY=17178;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2729608 chrX_2729608_C_T C T 55 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.344;CADD_Rawscore=0.059378;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+3235C>T|||||||rs2267799||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2729608C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.526+2265C>T|||||||rs2267799||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2729608C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+3235C>T|||||||rs2267799||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2729608C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+3235C>T|||||||rs2267799||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2729608C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs2267799|3235|1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2729608C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs2267799|3245|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2729608C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.475+3235C>T|||||||rs2267799||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2729608C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs2267799|3340|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2729608C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.475+3235C>T|||||||rs2267799||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2729608C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.475+3235C>T|||||||rs2267799||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2729608C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+3235C>T|||||||rs2267799||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2729608C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+3235C>T|||||||rs2267799||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2729608C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.475+3235C>T|||||||rs2267799||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2729608C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+3235C>T|||||||rs2267799||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2729608C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+3235C>T|||||||rs2267799||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2729608C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+3235C>T|||||||rs2267799||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2729608C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+3235C>T|||||||rs2267799||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2729608C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.541+3235C>T|||||||rs2267799||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2729608C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|-7|-31|-20|-47;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54458;gnomADv4_1_AC_joint_XX=28817;gnomADv4_1_AC_joint_XY=25641;gnomADv4_1_AF_grpmax_joint=0.690041;gnomADv4_1_AF_joint=0.358522;gnomADv4_1_AF_joint_XX=0.371028;gnomADv4_1_AF_joint_XY=0.345436;gnomADv4_1_AN_grpmax_joint=4820;gnomADv4_1_AN_joint=151896;gnomADv4_1_AN_joint_XX=77668;gnomADv4_1_AN_joint_XY=74228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=10329;gnomADv4_1_nhomalt_joint_XX=5614;gnomADv4_1_nhomalt_joint_XY=4715;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2729629 chrX_2729629_A_T A T 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=3.411;CADD_Rawscore=0.312638;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+3256A>T|||||||rs2267800||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||A|A||||chrX:g.2729629A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.526+2286A>T|||||||rs2267800||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2729629A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+3256A>T|||||||rs2267800||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2729629A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+3256A>T|||||||rs2267800||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2729629A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs2267800|3256|1||HGNC|HGNC:7082|5||||||||Ensembl||A|A||||chrX:g.2729629A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs2267800|3266|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2729629A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.475+3256A>T|||||||rs2267800||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2729629A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs2267800|3361|1||HGNC|HGNC:7082|2||||||||Ensembl||A|A||||chrX:g.2729629A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.475+3256A>T|||||||rs2267800||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2729629A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.475+3256A>T|||||||rs2267800||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2729629A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+3256A>T|||||||rs2267800||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2729629A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+3256A>T|||||||rs2267800||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2729629A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.475+3256A>T|||||||rs2267800||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2729629A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+3256A>T|||||||rs2267800||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2729629A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+3256A>T|||||||rs2267800||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2729629A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+3256A>T|||||||rs2267800||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2729629A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+3256A>T|||||||rs2267800||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2729629A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.541+3256A>T|||||||rs2267800||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2729629A>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|-4|-28|-41|2;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72564;gnomADv4_1_AC_joint_XX=36995;gnomADv4_1_AC_joint_XY=35569;gnomADv4_1_AF_grpmax_joint=0.693187;gnomADv4_1_AF_joint=0.477803;gnomADv4_1_AF_joint_XX=0.476359;gnomADv4_1_AF_joint_XY=0.479315;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=151870;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=19073;gnomADv4_1_nhomalt_joint_XX=9739;gnomADv4_1_nhomalt_joint_XY=9334;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2730014 chrX_2730014_C_T C T 53 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.342;CADD_Rawscore=0.058944;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+3641C>T|||||||rs73188874||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2730014C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.526+2671C>T|||||||rs73188874||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2730014C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+3641C>T|||||||rs73188874||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2730014C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+3641C>T|||||||rs73188874||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2730014C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs73188874|3641|1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2730014C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs73188874|3651|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2730014C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-3343C>T|||||||rs73188874||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2730014C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs73188874|3746|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2730014C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-3343C>T|||||||rs73188874||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2730014C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-3343C>T|||||||rs73188874||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2730014C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+3641C>T|||||||rs73188874||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2730014C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+3641C>T|||||||rs73188874||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2730014C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-3343C>T|||||||rs73188874||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2730014C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+3641C>T|||||||rs73188874||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2730014C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+3641C>T|||||||rs73188874||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2730014C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+3641C>T|||||||rs73188874||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2730014C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+3641C>T|||||||rs73188874||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2730014C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-3343C>T|||||||rs73188874||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2730014C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|-2|-18|-18|43;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10708;gnomADv4_1_AC_joint_XX=5607;gnomADv4_1_AC_joint_XY=5101;gnomADv4_1_AF_grpmax_joint=0.0992202;gnomADv4_1_AF_joint=0.0704196;gnomADv4_1_AF_joint_XX=0.0721009;gnomADv4_1_AF_joint_XY=0.0686596;gnomADv4_1_AN_grpmax_joint=67970;gnomADv4_1_AN_joint=152060;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=472;gnomADv4_1_nhomalt_joint_XX=252;gnomADv4_1_nhomalt_joint_XY=220;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2730054 chrX_2730054_C_T C T 47 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.21;CADD_Rawscore=-0.414349;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+3681C>T|||||||rs311085||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2730054C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.526+2711C>T|||||||rs311085||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2730054C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+3681C>T|||||||rs311085||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2730054C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+3681C>T|||||||rs311085||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2730054C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs311085|3681|1||HGNC|HGNC:7082|5||||||||Ensembl||C|C||||chrX:g.2730054C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs311085|3691|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2730054C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-3303C>T|||||||rs311085||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2730054C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs311085|3786|1||HGNC|HGNC:7082|2||||||||Ensembl||C|C||||chrX:g.2730054C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-3303C>T|||||||rs311085||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2730054C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-3303C>T|||||||rs311085||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2730054C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+3681C>T|||||||rs311085||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2730054C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+3681C>T|||||||rs311085||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2730054C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-3303C>T|||||||rs311085||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2730054C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+3681C>T|||||||rs311085||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2730054C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+3681C>T|||||||rs311085||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2730054C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+3681C>T|||||||rs311085||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2730054C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+3681C>T|||||||rs311085||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2730054C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-3303C>T|||||||rs311085||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2730054C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|27|-45|3|41;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=99543;gnomADv4_1_AC_joint_XX=51999;gnomADv4_1_AC_joint_XY=47544;gnomADv4_1_AF_grpmax_joint=0.846241;gnomADv4_1_AF_joint=0.655276;gnomADv4_1_AF_joint_XX=0.668883;gnomADv4_1_AF_joint_XY=0.641014;gnomADv4_1_AN_grpmax_joint=41474;gnomADv4_1_AN_joint=151910;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74170;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=33918;gnomADv4_1_nhomalt_joint_XX=18072;gnomADv4_1_nhomalt_joint_XY=15846;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2730175 chrX_2730175_CT_C;chrX_2730175_CTT_C CT C 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADDIndel_PHREDscore=0.428;CADDIndel_Rawscore=-0.232141;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+3817del|||||||rs58977521||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||T|T|||14|chrX:g.2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.526+2847del|||||||rs58977521||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T|||14|chrX:g.2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+3817del|||||||rs58977521||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T|||14|chrX:g.2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+3817del|||||||rs58977521||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T|||14|chrX:g.2730190del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs58977521|3803|1||HGNC|HGNC:7082|5||||||||Ensembl||T|T||||chrX:g.2730190del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs58977521|3813|1||HGNC|HGNC:7082|2||||||||Ensembl||T|T||||chrX:g.2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-3167del|||||||rs58977521||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T|||14|chrX:g.2730190del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs58977521|3908|1||HGNC|HGNC:7082|2||||||||Ensembl||T|T||||chrX:g.2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-3167del|||||||rs58977521||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T|||14|chrX:g.2730190del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-3167del|||||||rs58977521||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T|||14|chrX:g.2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+3817del|||||||rs58977521||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T|||14|chrX:g.2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+3817del|||||||rs58977521||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T|||14|chrX:g.2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-3167del|||||||rs58977521||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T|||14|chrX:g.2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+3817del|||||||rs58977521||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T|||14|chrX:g.2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+3817del|||||||rs58977521||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T|||14|chrX:g.2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+3817del|||||||rs58977521||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T|||14|chrX:g.2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+3817del|||||||rs58977521||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T|||14|chrX:g.2730190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-3167del|||||||rs58977521||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T|||14|chrX:g.2730190del|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|14|19|-11|-27;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78226;gnomADv4_1_AC_joint_XX=40101;gnomADv4_1_AC_joint_XY=38125;gnomADv4_1_AF_grpmax_joint=0.630597;gnomADv4_1_AF_joint=0.56121;gnomADv4_1_AF_joint_XX=0.555739;gnomADv4_1_AF_joint_XY=0.567083;gnomADv4_1_AN_grpmax_joint=63692;gnomADv4_1_AN_joint=139388;gnomADv4_1_AN_joint_XX=72158;gnomADv4_1_AN_joint_XY=67230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=22123;gnomADv4_1_nhomalt_joint_XX=11225;gnomADv4_1_nhomalt_joint_XY=10898;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2730175 chrX_2730175_CT_C;chrX_2730175_CTT_C CTT C 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.429;CADDIndel_Rawscore=-0.231729;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+3816_33+3817del|||||||rs58977521||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||TT|TT|||13|chrX:g.2730189_2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.526+2846_526+2847del|||||||rs58977521||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||TT|TT|||13|chrX:g.2730189_2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+3816_427+3817del|||||||rs58977521||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||TT|TT|||13|chrX:g.2730189_2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+3816_475+3817del|||||||rs58977521||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||TT|TT|||13|chrX:g.2730189_2730190del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs58977521|3803|1||HGNC|HGNC:7082|5||||||||Ensembl||TT|TT||||chrX:g.2730189_2730190del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs58977521|3813|1||HGNC|HGNC:7082|2||||||||Ensembl||TT|TT||||chrX:g.2730189_2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-3168_476-3167del|||||||rs58977521||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||TT|TT|||13|chrX:g.2730189_2730190del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs58977521|3908|1||HGNC|HGNC:7082|2||||||||Ensembl||TT|TT||||chrX:g.2730189_2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-3168_476-3167del|||||||rs58977521||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||TT|TT|||13|chrX:g.2730189_2730190del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-3168_476-3167del|||||||rs58977521||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||TT|TT|||13|chrX:g.2730189_2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+3816_475+3817del|||||||rs58977521||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||TT|TT|||13|chrX:g.2730189_2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+3816_427+3817del|||||||rs58977521||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||TT|TT|||13|chrX:g.2730189_2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-3168_476-3167del|||||||rs58977521||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||TT|TT|||13|chrX:g.2730189_2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+3816_475+3817del|||||||rs58977521||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||TT|TT|||13|chrX:g.2730189_2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+3816_427+3817del|||||||rs58977521||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||TT|TT|||13|chrX:g.2730189_2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+3816_424+3817del|||||||rs58977521||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||TT|TT|||13|chrX:g.2730189_2730190del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+3816_475+3817del|||||||rs58977521||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||TT|TT|||13|chrX:g.2730189_2730190del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-3168_542-3167del|||||||rs58977521||1||EntrezGene|HGNC:7082|||||||||RefSeq||TT|TT|||13|chrX:g.2730189_2730190del|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|25|19|19|-27;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39960;gnomADv4_1_AC_joint_XX=21690;gnomADv4_1_AC_joint_XY=18270;gnomADv4_1_AF_grpmax_joint=0.50731;gnomADv4_1_AF_joint=0.286328;gnomADv4_1_AF_joint_XX=0.300282;gnomADv4_1_AF_joint_XY=0.271358;gnomADv4_1_AN_grpmax_joint=4788;gnomADv4_1_AN_joint=139560;gnomADv4_1_AN_joint_XX=72232;gnomADv4_1_AN_joint_XY=67328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6165;gnomADv4_1_nhomalt_joint_XX=3485;gnomADv4_1_nhomalt_joint_XY=2680;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2730929 chrX_2730929_CAA_C;chrX_2730929_C_CA CAA C 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=0.73;CADDIndel_Rawscore=-0.098372;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+4574_33+4575del|||||||rs4034603||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||AA|AA|||17|chrX:g.2730947_2730948del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-2410_527-2409del|||||||rs4034603||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||AA|AA|||17|chrX:g.2730947_2730948del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+4574_427+4575del|||||||rs4034603||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||AA|AA|||17|chrX:g.2730947_2730948del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+4574_475+4575del|||||||rs4034603||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||AA|AA|||17|chrX:g.2730947_2730948del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs4034603|4557|1||HGNC|HGNC:7082|5||||||||Ensembl||AA|AA||||chrX:g.2730947_2730948del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs4034603|4567|1||HGNC|HGNC:7082|2||||||||Ensembl||AA|AA||||chrX:g.2730947_2730948del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-2410_476-2409del|||||||rs4034603||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||AA|AA|||17|chrX:g.2730947_2730948del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs4034603|4662|1||HGNC|HGNC:7082|2||||||||Ensembl||AA|AA||||chrX:g.2730947_2730948del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-2410_476-2409del|||||||rs4034603||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||AA|AA|||17|chrX:g.2730947_2730948del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-2410_476-2409del|||||||rs4034603||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||AA|AA|||17|chrX:g.2730947_2730948del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+4574_475+4575del|||||||rs4034603||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||AA|AA|||17|chrX:g.2730947_2730948del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+4574_427+4575del|||||||rs4034603||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||AA|AA|||17|chrX:g.2730947_2730948del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-2410_476-2409del|||||||rs4034603||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||AA|AA|||17|chrX:g.2730947_2730948del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+4574_475+4575del|||||||rs4034603||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||AA|AA|||17|chrX:g.2730947_2730948del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+4574_427+4575del|||||||rs4034603||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||AA|AA|||17|chrX:g.2730947_2730948del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+4574_424+4575del|||||||rs4034603||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||AA|AA|||17|chrX:g.2730947_2730948del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+4574_475+4575del|||||||rs4034603||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||AA|AA|||17|chrX:g.2730947_2730948del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-2410_542-2409del|||||||rs4034603||1||EntrezGene|HGNC:7082|||||||||RefSeq||AA|AA|||17|chrX:g.2730947_2730948del|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|41|21|-15|40;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23147;gnomADv4_1_AC_joint_XX=13130;gnomADv4_1_AC_joint_XY=10017;gnomADv4_1_AF_grpmax_joint=0.345588;gnomADv4_1_AF_joint=0.218117;gnomADv4_1_AF_joint_XX=0.231357;gnomADv4_1_AF_joint_XY=0.202896;gnomADv4_1_AN_grpmax_joint=3128;gnomADv4_1_AN_joint=106122;gnomADv4_1_AN_joint_XX=56752;gnomADv4_1_AN_joint_XY=49370;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1806;gnomADv4_1_nhomalt_joint_XX=1097;gnomADv4_1_nhomalt_joint_XY=709;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2730929 chrX_2730929_CAA_C;chrX_2730929_C_CA C CA 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=28;CADDIndel_PHREDscore=0.798;CADDIndel_Rawscore=-0.075853;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+4575dup|||||||rs4034603||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||||||19|chrX:g.2730948dup|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-2409dup|||||||rs4034603||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||19|chrX:g.2730948dup|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+4575dup|||||||rs4034603||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||19|chrX:g.2730948dup|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+4575dup|||||||rs4034603||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||19|chrX:g.2730948dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs4034603|4556|1||HGNC|HGNC:7082|5||||||||Ensembl|||||||chrX:g.2730948dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs4034603|4566|1||HGNC|HGNC:7082|2||||||||Ensembl|||||||chrX:g.2730948dup|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-2409dup|||||||rs4034603||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||19|chrX:g.2730948dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs4034603|4661|1||HGNC|HGNC:7082|2||||||||Ensembl|||||||chrX:g.2730948dup|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-2409dup|||||||rs4034603||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||19|chrX:g.2730948dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-2409dup|||||||rs4034603||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||19|chrX:g.2730948dup|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+4575dup|||||||rs4034603||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||19|chrX:g.2730948dup|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+4575dup|||||||rs4034603||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||19|chrX:g.2730948dup|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-2409dup|||||||rs4034603||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||19|chrX:g.2730948dup|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+4575dup|||||||rs4034603||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||19|chrX:g.2730948dup|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+4575dup|||||||rs4034603||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||19|chrX:g.2730948dup|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+4575dup|||||||rs4034603||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||19|chrX:g.2730948dup|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+4575dup|||||||rs4034603||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||19|chrX:g.2730948dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-2409dup|||||||rs4034603||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||19|chrX:g.2730948dup|||||||||||||;SpliceAI=CA|CD99|0.00|0.00|0.00|0.00|21|-15|-15|40;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9670;gnomADv4_1_AC_joint_XX=5298;gnomADv4_1_AC_joint_XY=4372;gnomADv4_1_AF_grpmax_joint=0.115947;gnomADv4_1_AF_joint=0.0912367;gnomADv4_1_AF_joint_XX=0.093515;gnomADv4_1_AF_joint_XY=0.0886204;gnomADv4_1_AN_grpmax_joint=3148;gnomADv4_1_AN_joint=105988;gnomADv4_1_AN_joint_XX=56654;gnomADv4_1_AN_joint_XY=49334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=435;gnomADv4_1_nhomalt_joint_XX=238;gnomADv4_1_nhomalt_joint_XY=197;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2730945 chrX_2730945_AAAAG_A AAAAG A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=0.65;CADDIndel_Rawscore=-0.127642;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+4574_33+4577del|||||||rs1161633404||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||AAAG|AAAG|||1|chrX:g.2730947_2730950del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-2410_527-2407del|||||||rs1161633404||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||AAAG|AAAG|||1|chrX:g.2730947_2730950del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+4574_427+4577del|||||||rs1161633404||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||AAAG|AAAG|||1|chrX:g.2730947_2730950del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+4574_475+4577del|||||||rs1161633404||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||AAAG|AAAG|||1|chrX:g.2730947_2730950del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs1161633404|4573|1||HGNC|HGNC:7082|5||||||||Ensembl||AAAG|AAAG||||chrX:g.2730947_2730950del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs1161633404|4583|1||HGNC|HGNC:7082|2||||||||Ensembl||AAAG|AAAG||||chrX:g.2730947_2730950del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-2410_476-2407del|||||||rs1161633404||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||AAAG|AAAG|||1|chrX:g.2730947_2730950del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000497752|retained_intron||||||||||rs1161633404|4678|1||HGNC|HGNC:7082|2||||||||Ensembl||AAAG|AAAG||||chrX:g.2730947_2730950del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-2410_476-2407del|||||||rs1161633404||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||AAAG|AAAG|||1|chrX:g.2730947_2730950del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-2410_476-2407del|||||||rs1161633404||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||AAAG|AAAG|||1|chrX:g.2730947_2730950del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+4574_475+4577del|||||||rs1161633404||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||AAAG|AAAG|||1|chrX:g.2730947_2730950del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+4574_427+4577del|||||||rs1161633404||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||AAAG|AAAG|||1|chrX:g.2730947_2730950del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-2410_476-2407del|||||||rs1161633404||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||AAAG|AAAG|||1|chrX:g.2730947_2730950del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+4574_475+4577del|||||||rs1161633404||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||AAAG|AAAG|||1|chrX:g.2730947_2730950del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+4574_427+4577del|||||||rs1161633404||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||AAAG|AAAG|||1|chrX:g.2730947_2730950del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+4574_424+4577del|||||||rs1161633404||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||AAAG|AAAG|||1|chrX:g.2730947_2730950del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+4574_475+4577del|||||||rs1161633404||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||AAAG|AAAG|||1|chrX:g.2730947_2730950del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-2410_542-2407del|||||||rs1161633404||1||EntrezGene|HGNC:7082|||||||||RefSeq||AAAG|AAAG|||1|chrX:g.2730947_2730950del|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|-3|5|-43|-31;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000497752,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22;gnomADv4_1_AC_joint_XX=13;gnomADv4_1_AC_joint_XY=9;gnomADv4_1_AF_grpmax_joint=0.000415455;gnomADv4_1_AF_joint=0.000145098;gnomADv4_1_AF_joint_XX=0.000167582;gnomADv4_1_AF_joint_XY=0.000121543;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=151622;gnomADv4_1_AN_joint_XX=77574;gnomADv4_1_AN_joint_XY=74048;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2731361 chrX_2731361_G_A G A 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=0.946;CADD_Rawscore=-0.032257;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+4988G>A|||||||rs151259021||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2731361G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-1996G>A|||||||rs151259021||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2731361G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+4988G>A|||||||rs151259021||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2731361G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+4988G>A|||||||rs151259021||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2731361G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000449611|protein_coding_CDS_not_defined||||||||||rs151259021|4988|1||HGNC|HGNC:7082|5||||||||Ensembl||G|G||||chrX:g.2731361G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482293|protein_coding_CDS_not_defined||||||||||rs151259021|4998|1||HGNC|HGNC:7082|2||||||||Ensembl||G|G||||chrX:g.2731361G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-1996G>A|||||||rs151259021||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2731361G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-1996G>A|||||||rs151259021||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2731361G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-1996G>A|||||||rs151259021||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2731361G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+4988G>A|||||||rs151259021||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2731361G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+4988G>A|||||||rs151259021||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2731361G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-1996G>A|||||||rs151259021||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2731361G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+4988G>A|||||||rs151259021||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2731361G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+4988G>A|||||||rs151259021||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2731361G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+4988G>A|||||||rs151259021||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2731361G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+4988G>A|||||||rs151259021||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2731361G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-1996G>A|||||||rs151259021||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2731361G>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|2|-47|15|-30;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000449611,ENST00000482293,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8925;gnomADv4_1_AC_joint_XX=4613;gnomADv4_1_AC_joint_XY=4312;gnomADv4_1_AF_grpmax_joint=0.0986395;gnomADv4_1_AF_joint=0.0586191;gnomADv4_1_AF_joint_XX=0.0592778;gnomADv4_1_AF_joint_XY=0.0579305;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152254;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=289;gnomADv4_1_nhomalt_joint_XX=142;gnomADv4_1_nhomalt_joint_XY=147;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2731612 chrX_2731612_A_T A T 41 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.077;CADD_Rawscore=0.001422;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+5239A>T|||||||rs312197||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||A|A||||chrX:g.2731612A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-1745A>T|||||||rs312197||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2731612A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+5239A>T|||||||rs312197||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2731612A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+5239A>T|||||||rs312197||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2731612A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-1745A>T|||||||rs312197||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2731612A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-1745A>T|||||||rs312197||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2731612A>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-1745A>T|||||||rs312197||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2731612A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+5239A>T|||||||rs312197||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2731612A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+5239A>T|||||||rs312197||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2731612A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-1745A>T|||||||rs312197||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2731612A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+5239A>T|||||||rs312197||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2731612A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+5239A>T|||||||rs312197||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2731612A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+5239A>T|||||||rs312197||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2731612A>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+5239A>T|||||||rs312197||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2731612A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-1745A>T|||||||rs312197||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2731612A>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|37|2|-4|24;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=86136;gnomADv4_1_AC_joint_XX=45037;gnomADv4_1_AC_joint_XY=41099;gnomADv4_1_AF_grpmax_joint=0.632653;gnomADv4_1_AF_joint=0.567423;gnomADv4_1_AF_joint_XX=0.580149;gnomADv4_1_AF_joint_XY=0.554104;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151802;gnomADv4_1_AN_joint_XX=77630;gnomADv4_1_AN_joint_XY=74172;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=24565;gnomADv4_1_nhomalt_joint_XX=13148;gnomADv4_1_nhomalt_joint_XY=11417;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2731791 chrX_2731791_C_T C T 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.529;CADD_Rawscore=-0.179102;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+5418C>T|||||||rs311088||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2731791C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-1566C>T|||||||rs311088||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2731791C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+5418C>T|||||||rs311088||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2731791C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+5418C>T|||||||rs311088||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2731791C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-1566C>T|||||||rs311088||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2731791C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-1566C>T|||||||rs311088||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2731791C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-1566C>T|||||||rs311088||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2731791C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+5418C>T|||||||rs311088||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2731791C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+5418C>T|||||||rs311088||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2731791C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-1566C>T|||||||rs311088||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2731791C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+5418C>T|||||||rs311088||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2731791C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+5418C>T|||||||rs311088||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2731791C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+5418C>T|||||||rs311088||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2731791C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+5418C>T|||||||rs311088||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2731791C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-1566C>T|||||||rs311088||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2731791C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|16|-19|-47|37;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82946;gnomADv4_1_AC_joint_XX=43173;gnomADv4_1_AC_joint_XY=39773;gnomADv4_1_AF_grpmax_joint=0.613014;gnomADv4_1_AF_joint=0.547087;gnomADv4_1_AF_joint_XX=0.556511;gnomADv4_1_AF_joint_XY=0.537212;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151614;gnomADv4_1_AN_joint_XX=77578;gnomADv4_1_AN_joint_XY=74036;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=22797;gnomADv4_1_nhomalt_joint_XX=12080;gnomADv4_1_nhomalt_joint_XY=10717;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2731920 chrX_2731920_G_C G C 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=2.122;CADD_Rawscore=0.179675;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+5547G>C|||||||rs186106161||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2731920G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-1437G>C|||||||rs186106161||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2731920G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+5547G>C|||||||rs186106161||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2731920G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+5547G>C|||||||rs186106161||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2731920G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-1437G>C|||||||rs186106161||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2731920G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-1437G>C|||||||rs186106161||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2731920G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-1437G>C|||||||rs186106161||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2731920G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+5547G>C|||||||rs186106161||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2731920G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+5547G>C|||||||rs186106161||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2731920G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-1437G>C|||||||rs186106161||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2731920G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+5547G>C|||||||rs186106161||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2731920G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+5547G>C|||||||rs186106161||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2731920G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+5547G>C|||||||rs186106161||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2731920G>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+5547G>C|||||||rs186106161||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2731920G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-1437G>C|||||||rs186106161||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2731920G>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|-27|48|-28|48;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12450;gnomADv4_1_AC_joint_XX=6723;gnomADv4_1_AC_joint_XY=5727;gnomADv4_1_AF_grpmax_joint=0.127773;gnomADv4_1_AF_joint=0.0821619;gnomADv4_1_AF_joint_XX=0.0866947;gnomADv4_1_AF_joint_XY=0.0774107;gnomADv4_1_AN_grpmax_joint=41292;gnomADv4_1_AN_joint=151530;gnomADv4_1_AN_joint_XX=77548;gnomADv4_1_AN_joint_XY=73982;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=573;gnomADv4_1_nhomalt_joint_XX=320;gnomADv4_1_nhomalt_joint_XY=253;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2731970 chrX_2731970_T_TA T TA 50 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.801;CADDIndel_Rawscore=-0.074782;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+5610dup|||||||rs113396691||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||||||13|chrX:g.2731983dup|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-1374dup|||||||rs113396691||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||13|chrX:g.2731983dup|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+5610dup|||||||rs113396691||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||13|chrX:g.2731983dup|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+5610dup|||||||rs113396691||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||13|chrX:g.2731983dup|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-1374dup|||||||rs113396691||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||13|chrX:g.2731983dup|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-1374dup|||||||rs113396691||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||13|chrX:g.2731983dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-1374dup|||||||rs113396691||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||13|chrX:g.2731983dup|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+5610dup|||||||rs113396691||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||13|chrX:g.2731983dup|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+5610dup|||||||rs113396691||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||13|chrX:g.2731983dup|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-1374dup|||||||rs113396691||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||13|chrX:g.2731983dup|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+5610dup|||||||rs113396691||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||13|chrX:g.2731983dup|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+5610dup|||||||rs113396691||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||13|chrX:g.2731983dup|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+5610dup|||||||rs113396691||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||13|chrX:g.2731983dup|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+5610dup|||||||rs113396691||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||13|chrX:g.2731983dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-1374dup|||||||rs113396691||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||13|chrX:g.2731983dup|||||||||||||;SpliceAI=TA|CD99|0.00|0.00|0.00|0.00|-2|-3|-41|16;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45475;gnomADv4_1_AC_joint_XX=22901;gnomADv4_1_AC_joint_XY=22574;gnomADv4_1_AF_grpmax_joint=0.399306;gnomADv4_1_AF_joint=0.308075;gnomADv4_1_AF_joint_XX=0.302363;gnomADv4_1_AF_joint_XY=0.314095;gnomADv4_1_AN_grpmax_joint=288;gnomADv4_1_AN_joint=147610;gnomADv4_1_AN_joint_XX=75740;gnomADv4_1_AN_joint_XY=71870;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7524;gnomADv4_1_nhomalt_joint_XX=3727;gnomADv4_1_nhomalt_joint_XY=3797;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2732080 chrX_2732080_A_G A G 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=5.122;CADD_Rawscore=0.467324;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.33+5707A>G|||||||rs137980586||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||A|A||||chrX:g.2732080A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-1277A>G|||||||rs137980586||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2732080A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+5707A>G|||||||rs137980586||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2732080A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+5707A>G|||||||rs137980586||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2732080A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-1277A>G|||||||rs137980586||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2732080A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-1277A>G|||||||rs137980586||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2732080A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-1277A>G|||||||rs137980586||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2732080A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+5707A>G|||||||rs137980586||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2732080A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+5707A>G|||||||rs137980586||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2732080A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-1277A>G|||||||rs137980586||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2732080A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+5707A>G|||||||rs137980586||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2732080A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+5707A>G|||||||rs137980586||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2732080A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+5707A>G|||||||rs137980586||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2732080A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+5707A>G|||||||rs137980586||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2732080A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-1277A>G|||||||rs137980586||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2732080A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-48|39|39|16;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11612;gnomADv4_1_AC_joint_XX=6283;gnomADv4_1_AC_joint_XY=5329;gnomADv4_1_AF_grpmax_joint=0.108844;gnomADv4_1_AF_joint=0.0763766;gnomADv4_1_AF_joint_XX=0.0808394;gnomADv4_1_AF_joint_XY=0.0717092;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152036;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=468;gnomADv4_1_nhomalt_joint_XX=251;gnomADv4_1_nhomalt_joint_XY=217;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2732242 chrX_2732242_C_T C T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.029;CADD_Rawscore=-0.948365;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-5639C>T|||||||rs17807417||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2732242C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-1115C>T|||||||rs17807417||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2732242C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+5869C>T|||||||rs17807417||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2732242C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+5869C>T|||||||rs17807417||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2732242C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-1115C>T|||||||rs17807417||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2732242C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-1115C>T|||||||rs17807417||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2732242C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-1115C>T|||||||rs17807417||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2732242C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+5869C>T|||||||rs17807417||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2732242C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+5869C>T|||||||rs17807417||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2732242C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-1115C>T|||||||rs17807417||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2732242C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+5869C>T|||||||rs17807417||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2732242C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+5869C>T|||||||rs17807417||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2732242C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+5869C>T|||||||rs17807417||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2732242C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+5869C>T|||||||rs17807417||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2732242C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-1115C>T|||||||rs17807417||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2732242C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|35|-35|-15|-35;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46460;gnomADv4_1_AC_joint_XX=22705;gnomADv4_1_AC_joint_XY=23755;gnomADv4_1_AF_grpmax_joint=0.367347;gnomADv4_1_AF_joint=0.306089;gnomADv4_1_AF_joint_XX=0.292357;gnomADv4_1_AF_joint_XY=0.320476;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151786;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74124;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7385;gnomADv4_1_nhomalt_joint_XX=3526;gnomADv4_1_nhomalt_joint_XY=3859;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2732269 chrX_2732269_A_G A G 61 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=4;AC_Hom_XX=2;AC_Hom_XY=2;AC_XX=2;AC_XY=3;AF=0.833333;AF_XX=1.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=61;CADD_PHREDscore=0.378;CADD_Rawscore=-0.263493;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-5612A>G|||||||rs312199||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||A|A||||chrX:g.2732269A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-1088A>G|||||||rs312199||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2732269A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.427+5896A>G|||||||rs312199||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2732269A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.475+5896A>G|||||||rs312199||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2732269A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-1088A>G|||||||rs312199||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2732269A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-1088A>G|||||||rs312199||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2732269A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-1088A>G|||||||rs312199||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2732269A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.475+5896A>G|||||||rs312199||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2732269A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.427+5896A>G|||||||rs312199||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2732269A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-1088A>G|||||||rs312199||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2732269A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.475+5896A>G|||||||rs312199||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2732269A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.427+5896A>G|||||||rs312199||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2732269A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.424+5896A>G|||||||rs312199||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2732269A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.475+5896A>G|||||||rs312199||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2732269A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-1088A>G|||||||rs312199||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2732269A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|50|26|-42|4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=123083;gnomADv4_1_AC_joint_XX=61673;gnomADv4_1_AC_joint_XY=61410;gnomADv4_1_AF_grpmax_joint=0.919317;gnomADv4_1_AF_joint=0.810364;gnomADv4_1_AF_joint_XX=0.793712;gnomADv4_1_AF_joint_XY=0.827807;gnomADv4_1_AN_grpmax_joint=5094;gnomADv4_1_AN_joint=151886;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74184;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=49949;gnomADv4_1_nhomalt_joint_XX=24570;gnomADv4_1_nhomalt_joint_XY=25379;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=2.0;numhomalt_XX=1.0;numhomalt_XY=1.0 +chrX 2732523 chrX_2732523_T_G T G 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=1.67;CADD_Rawscore=0.116361;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-5358T>G|||||||rs178127||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||T|T||||chrX:g.2732523T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-834T>G|||||||rs178127||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2732523T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-5677T>G|||||||rs178127||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2732523T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-5677T>G|||||||rs178127||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2732523T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-834T>G|||||||rs178127||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2732523T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-834T>G|||||||rs178127||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2732523T>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-834T>G|||||||rs178127||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2732523T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-5680T>G|||||||rs178127||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2732523T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-5677T>G|||||||rs178127||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2732523T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-834T>G|||||||rs178127||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2732523T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-5680T>G|||||||rs178127||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2732523T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-5680T>G|||||||rs178127||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2732523T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-5677T>G|||||||rs178127||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2732523T>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-5677T>G|||||||rs178127||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2732523T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-834T>G|||||||rs178127||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2732523T>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|34|-27|-1|-21;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59766;gnomADv4_1_AC_joint_XX=30701;gnomADv4_1_AC_joint_XY=29065;gnomADv4_1_AF_grpmax_joint=0.626762;gnomADv4_1_AF_joint=0.406599;gnomADv4_1_AF_joint_XX=0.406797;gnomADv4_1_AF_joint_XY=0.40639;gnomADv4_1_AN_grpmax_joint=39452;gnomADv4_1_AN_joint=146990;gnomADv4_1_AN_joint_XX=75470;gnomADv4_1_AN_joint_XY=71520;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=13606;gnomADv4_1_nhomalt_joint_XX=6961;gnomADv4_1_nhomalt_joint_XY=6645;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2732562 chrX_2732562_C_CCT C CCT 32 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=32;CADDIndel_PHREDscore=0.441;CADDIndel_Rawscore=-0.224421;CSQ=CT|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-5308_34-5307dup|||||||rs201358537||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||||||12|chrX:g.2732573_2732574dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-784_527-783dup|||||||rs201358537||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||12|chrX:g.2732573_2732574dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-5627_428-5626dup|||||||rs201358537||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||12|chrX:g.2732573_2732574dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-5627_476-5626dup|||||||rs201358537||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||12|chrX:g.2732573_2732574dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-784_476-783dup|||||||rs201358537||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||12|chrX:g.2732573_2732574dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-784_476-783dup|||||||rs201358537||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||12|chrX:g.2732573_2732574dup|||||||||||||,CT|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-784_476-783dup|||||||rs201358537||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||12|chrX:g.2732573_2732574dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-5630_476-5629dup|||||||rs201358537||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||12|chrX:g.2732573_2732574dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-5627_428-5626dup|||||||rs201358537||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||12|chrX:g.2732573_2732574dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-784_476-783dup|||||||rs201358537||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||12|chrX:g.2732573_2732574dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-5630_476-5629dup|||||||rs201358537||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||12|chrX:g.2732573_2732574dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-5630_428-5629dup|||||||rs201358537||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||12|chrX:g.2732573_2732574dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-5627_425-5626dup|||||||rs201358537||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||12|chrX:g.2732573_2732574dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-5627_476-5626dup|||||||rs201358537||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||12|chrX:g.2732573_2732574dup|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-784_542-783dup|||||||rs201358537||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||12|chrX:g.2732573_2732574dup|||||||||||||;TYPE=INDEL;VEP_Allele=CT,CT,CT,CT,CT,CT,CT,CT,CT,CT,CT,CT,CT,CT,CT;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31752;gnomADv4_1_AC_joint_XX=17644;gnomADv4_1_AC_joint_XY=14108;gnomADv4_1_AF_grpmax_joint=0.466513;gnomADv4_1_AF_joint=0.230981;gnomADv4_1_AF_joint_XX=0.250397;gnomADv4_1_AF_joint_XY=0.210561;gnomADv4_1_AN_grpmax_joint=4330;gnomADv4_1_AN_joint=137466;gnomADv4_1_AN_joint_XX=70464;gnomADv4_1_AN_joint_XY=67002;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3685;gnomADv4_1_nhomalt_joint_XX=2207;gnomADv4_1_nhomalt_joint_XY=1478;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2732768 chrX_2732768_T_TC T TC 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.623;CADDIndel_Rawscore=-0.138281;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-5109dup|||||||rs201943307||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||||||4|chrX:g.2732772dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-585dup|||||||rs201943307||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||4|chrX:g.2732772dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-5428dup|||||||rs201943307||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||4|chrX:g.2732772dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-5428dup|||||||rs201943307||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||4|chrX:g.2732772dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-585dup|||||||rs201943307||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||4|chrX:g.2732772dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-585dup|||||||rs201943307||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||4|chrX:g.2732772dup|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-585dup|||||||rs201943307||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||4|chrX:g.2732772dup|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-5431dup|||||||rs201943307||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||4|chrX:g.2732772dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-5428dup|||||||rs201943307||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||4|chrX:g.2732772dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-585dup|||||||rs201943307||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||4|chrX:g.2732772dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-5431dup|||||||rs201943307||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||4|chrX:g.2732772dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-5431dup|||||||rs201943307||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||4|chrX:g.2732772dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-5428dup|||||||rs201943307||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||4|chrX:g.2732772dup|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-5428dup|||||||rs201943307||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||4|chrX:g.2732772dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-585dup|||||||rs201943307||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||4|chrX:g.2732772dup|||||||||||||;SpliceAI=TC|CD99|0.00|0.00|0.00|0.00|45|-46|-48|-49;TYPE=INDEL;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18740;gnomADv4_1_AC_joint_XX=9990;gnomADv4_1_AC_joint_XY=8750;gnomADv4_1_AF_grpmax_joint=0.172379;gnomADv4_1_AF_joint=0.127946;gnomADv4_1_AF_joint_XX=0.132856;gnomADv4_1_AF_joint_XY=0.122766;gnomADv4_1_AN_grpmax_joint=66522;gnomADv4_1_AN_joint=146468;gnomADv4_1_AN_joint_XX=75194;gnomADv4_1_AN_joint_XY=71274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1443;gnomADv4_1_nhomalt_joint_XX=778;gnomADv4_1_nhomalt_joint_XY=665;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2732851 chrX_2732851_G_T G T 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADD_PHREDscore=0.278;CADD_Rawscore=-0.341679;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-5030G>T|||||||rs311089||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2732851G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-506G>T|||||||rs311089||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2732851G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-5349G>T|||||||rs311089||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2732851G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-5349G>T|||||||rs311089||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2732851G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-506G>T|||||||rs311089||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2732851G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-506G>T|||||||rs311089||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2732851G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-506G>T|||||||rs311089||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2732851G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-5352G>T|||||||rs311089||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2732851G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-5349G>T|||||||rs311089||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2732851G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-506G>T|||||||rs311089||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2732851G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-5352G>T|||||||rs311089||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2732851G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-5352G>T|||||||rs311089||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2732851G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-5349G>T|||||||rs311089||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2732851G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-5349G>T|||||||rs311089||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2732851G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-506G>T|||||||rs311089||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2732851G>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|8|-11|-8|-1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88642;gnomADv4_1_AC_joint_XX=44334;gnomADv4_1_AC_joint_XY=44308;gnomADv4_1_AF_grpmax_joint=0.771955;gnomADv4_1_AF_joint=0.618706;gnomADv4_1_AF_joint_XX=0.600992;gnomADv4_1_AF_joint_XY=0.637507;gnomADv4_1_AN_grpmax_joint=4828;gnomADv4_1_AN_joint=143270;gnomADv4_1_AN_joint_XX=73768;gnomADv4_1_AN_joint_XY=69502;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=27100;gnomADv4_1_nhomalt_joint_XX=13182;gnomADv4_1_nhomalt_joint_XY=13918;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2732877 chrX_2732877_C_CCTTCTTT C CCTTCTTT 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=30;CADDIndel_PHREDscore=0.377;CADDIndel_Rawscore=-0.264175;CSQ=CTTCTTT|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-4998_34-4992dup|||||||rs200393507||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||||||12|chrX:g.2732883_2732889dup|||||||||||||,CTTCTTT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-474_527-468dup|||||||rs200393507||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||12|chrX:g.2732883_2732889dup|||||||||||||,CTTCTTT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-5317_428-5311dup|||||||rs200393507||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||12|chrX:g.2732883_2732889dup|||||||||||||,CTTCTTT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-5317_476-5311dup|||||||rs200393507||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||12|chrX:g.2732883_2732889dup|||||||||||||,CTTCTTT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-474_476-468dup|||||||rs200393507||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||12|chrX:g.2732883_2732889dup|||||||||||||,CTTCTTT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-474_476-468dup|||||||rs200393507||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||12|chrX:g.2732883_2732889dup|||||||||||||,CTTCTTT|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-474_476-468dup|||||||rs200393507||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||12|chrX:g.2732883_2732889dup|||||||||||||,CTTCTTT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-5320_476-5314dup|||||||rs200393507||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||12|chrX:g.2732883_2732889dup|||||||||||||,CTTCTTT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-5317_428-5311dup|||||||rs200393507||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||12|chrX:g.2732883_2732889dup|||||||||||||,CTTCTTT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-474_476-468dup|||||||rs200393507||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||12|chrX:g.2732883_2732889dup|||||||||||||,CTTCTTT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-5320_476-5314dup|||||||rs200393507||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||12|chrX:g.2732883_2732889dup|||||||||||||,CTTCTTT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-5320_428-5314dup|||||||rs200393507||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||12|chrX:g.2732883_2732889dup|||||||||||||,CTTCTTT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-5317_425-5311dup|||||||rs200393507||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||12|chrX:g.2732883_2732889dup|||||||||||||,CTTCTTT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-5317_476-5311dup|||||||rs200393507||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||12|chrX:g.2732883_2732889dup|||||||||||||,CTTCTTT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-474_542-468dup|||||||rs200393507||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||12|chrX:g.2732883_2732889dup|||||||||||||;TYPE=INDEL;VEP_Allele=CTTCTTT,CTTCTTT,CTTCTTT,CTTCTTT,CTTCTTT,CTTCTTT,CTTCTTT,CTTCTTT,CTTCTTT,CTTCTTT,CTTCTTT,CTTCTTT,CTTCTTT,CTTCTTT,CTTCTTT;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1416;gnomADv4_1_AC_joint_XX=786;gnomADv4_1_AC_joint_XY=630;gnomADv4_1_AF_grpmax_joint=0.025;gnomADv4_1_AF_joint=0.0101879;gnomADv4_1_AF_joint_XX=0.0109517;gnomADv4_1_AF_joint_XY=0.00937249;gnomADv4_1_AN_grpmax_joint=280;gnomADv4_1_AN_joint=138988;gnomADv4_1_AN_joint_XX=71770;gnomADv4_1_AN_joint_XY=67218;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2733059 chrX_2733059_C_CCT C CCT 36 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=1.081;CADDIndel_Rawscore=0.002301;CSQ=CT|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-4819_34-4818dup|||||||rs60652665||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||||||4|chrX:g.2733062_2733063dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-295_527-294dup|||||||rs60652665||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||||||4|chrX:g.2733062_2733063dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-5138_428-5137dup|||||||rs60652665||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||4|chrX:g.2733062_2733063dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-5138_476-5137dup|||||||rs60652665||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||4|chrX:g.2733062_2733063dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-295_476-294dup|||||||rs60652665||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||4|chrX:g.2733062_2733063dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-295_476-294dup|||||||rs60652665||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||4|chrX:g.2733062_2733063dup|||||||||||||,CT|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-295_476-294dup|||||||rs60652665||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||4|chrX:g.2733062_2733063dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-5141_476-5140dup|||||||rs60652665||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||4|chrX:g.2733062_2733063dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-5138_428-5137dup|||||||rs60652665||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||4|chrX:g.2733062_2733063dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-295_476-294dup|||||||rs60652665||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||||||4|chrX:g.2733062_2733063dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-5141_476-5140dup|||||||rs60652665||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||4|chrX:g.2733062_2733063dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-5141_428-5140dup|||||||rs60652665||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||4|chrX:g.2733062_2733063dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-5138_425-5137dup|||||||rs60652665||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||4|chrX:g.2733062_2733063dup|||||||||||||,CT|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-5138_476-5137dup|||||||rs60652665||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||4|chrX:g.2733062_2733063dup|||||||||||||,CT|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-295_542-294dup|||||||rs60652665||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||4|chrX:g.2733062_2733063dup|||||||||||||;TYPE=INDEL;VEP_Allele=CT,CT,CT,CT,CT,CT,CT,CT,CT,CT,CT,CT,CT,CT,CT;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37524;gnomADv4_1_AC_joint_XX=20770;gnomADv4_1_AC_joint_XY=16754;gnomADv4_1_AF_grpmax_joint=0.368344;gnomADv4_1_AF_joint=0.251397;gnomADv4_1_AF_joint_XX=0.27139;gnomADv4_1_AF_joint_XY=0.230359;gnomADv4_1_AN_grpmax_joint=40226;gnomADv4_1_AN_joint=149262;gnomADv4_1_AN_joint_XX=76532;gnomADv4_1_AN_joint_XY=72730;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5243;gnomADv4_1_nhomalt_joint_XX=3159;gnomADv4_1_nhomalt_joint_XY=2084;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2733085 chrX_2733085_C_T C T 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.135;CADD_Rawscore=-0.5309;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-4796C>T|||||||rs34504332||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2733085C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||9/9|ENST00000381184.6:c.527-272C>T|||||||rs34504332||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2733085C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-5115C>T|||||||rs34504332||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2733085C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-5115C>T|||||||rs34504332||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2733085C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||8/8|ENST00000482405.7:c.476-272C>T|||||||rs34504332||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2733085C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||8/10|ENST00000611428.5:c.476-272C>T|||||||rs34504332||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2733085C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||8/10|ENST00000623253.4:c.476-272C>T|||||||rs34504332||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2733085C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-5118C>T|||||||rs34504332||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2733085C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-5115C>T|||||||rs34504332||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2733085C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||8/8|NM_001321367.2:c.476-272C>T|||||||rs34504332||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2733085C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-5118C>T|||||||rs34504332||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2733085C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-5118C>T|||||||rs34504332||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2733085C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-5115C>T|||||||rs34504332||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2733085C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-5115C>T|||||||rs34504332||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2733085C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||8/10|NR_135623.2:n.542-272C>T|||||||rs34504332||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2733085C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|8|2|5|-35;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29444;gnomADv4_1_AC_joint_XX=16313;gnomADv4_1_AC_joint_XY=13131;gnomADv4_1_AF_grpmax_joint=0.299789;gnomADv4_1_AF_joint=0.195618;gnomADv4_1_AF_joint_XX=0.211626;gnomADv4_1_AF_joint_XY=0.178814;gnomADv4_1_AN_grpmax_joint=40802;gnomADv4_1_AN_joint=150518;gnomADv4_1_AN_joint_XX=77084;gnomADv4_1_AN_joint_XY=73434;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3216;gnomADv4_1_nhomalt_joint_XX=2001;gnomADv4_1_nhomalt_joint_XY=1215;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2733525 chrX_2733525_C_T C T 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=0.084;CADD_Rawscore=-0.658235;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-4356C>T|||||||rs35030269||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2733525C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding|10/10||ENST00000381184.6:c.*161C>T||776|||||rs35030269||1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2733525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-4675C>T|||||||rs35030269||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2733525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-4675C>T|||||||rs35030269||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2733525C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding|9/9||ENST00000482405.7:c.*161C>T||695|||||rs35030269||1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2733525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*10+151C>T|||||||rs35030269||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2733525C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*10+151C>T|||||||rs35030269||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2733525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-4678C>T|||||||rs35030269||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2733525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-4675C>T|||||||rs35030269||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2733525C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding|9/9||NM_001321367.2:c.*161C>T||710|||||rs35030269||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2733525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-4678C>T|||||||rs35030269||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2733525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-4678C>T|||||||rs35030269||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2733525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-4675C>T|||||||rs35030269||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2733525C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-4675C>T|||||||rs35030269||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2733525C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.559+151C>T|||||||rs35030269||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2733525C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.01|0.00|-2|18|-2|21;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77718;gnomADv4_1_AC_joint_XX=41316;gnomADv4_1_AC_joint_XY=36402;gnomADv4_1_AF_grpmax_joint=0.126326;gnomADv4_1_AF_joint=0.100165;gnomADv4_1_AF_joint_XX=0.109418;gnomADv4_1_AF_joint_XY=0.0913939;gnomADv4_1_AN_grpmax_joint=57684;gnomADv4_1_AN_joint=775896;gnomADv4_1_AN_joint_XX=377598;gnomADv4_1_AN_joint_XY=398298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4535;gnomADv4_1_nhomalt_joint_XX=2577;gnomADv4_1_nhomalt_joint_XY=1958;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2735511 chrX_2735511_C_G C G 30 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADD_PHREDscore=0.55;CADD_Rawscore=-0.169341;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-2370C>G|||||||rs311092||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2735511C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs311092|1844|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2735511C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-2689C>G|||||||rs311092||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2735511C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-2689C>G|||||||rs311092||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2735511C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs311092|1839|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2735511C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*10+2137C>G|||||||rs311092||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2735511C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*10+2137C>G|||||||rs311092||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2735511C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-2692C>G|||||||rs311092||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2735511C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-2689C>G|||||||rs311092||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2735511C>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding|9/9||NM_001321367.2:c.*2147C>G||2696|||||rs311092||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2735511C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-2692C>G|||||||rs311092||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2735511C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-2692C>G|||||||rs311092||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2735511C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-2689C>G|||||||rs311092||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2735511C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-2689C>G|||||||rs311092||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2735511C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.559+2137C>G|||||||rs311092||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2735511C>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|34|-24|34|-24;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=75796;gnomADv4_1_AC_joint_XX=39225;gnomADv4_1_AC_joint_XY=36571;gnomADv4_1_AF_grpmax_joint=0.606058;gnomADv4_1_AF_joint=0.49919;gnomADv4_1_AF_joint_XX=0.50519;gnomADv4_1_AF_joint_XY=0.49291;gnomADv4_1_AN_grpmax_joint=41402;gnomADv4_1_AN_joint=151838;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74194;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=19342;gnomADv4_1_nhomalt_joint_XX=10102;gnomADv4_1_nhomalt_joint_XY=9240;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2735872 chrX_2735872_G_A G A 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.226;CADD_Rawscore=-0.395358;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-2009G>A|||||||rs311093||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2735872G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs311093|2205|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2735872G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-2328G>A|||||||rs311093||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2735872G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-2328G>A|||||||rs311093||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2735872G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs311093|2200|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2735872G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-2331G>A|||||||rs311093||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2735872G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-2331G>A|||||||rs311093||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2735872G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-2331G>A|||||||rs311093||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2735872G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-2328G>A|||||||rs311093||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2735872G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding|9/9||NM_001321367.2:c.*2508G>A||3057|||||rs311093||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2735872G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-2331G>A|||||||rs311093||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2735872G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-2331G>A|||||||rs311093||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2735872G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-2328G>A|||||||rs311093||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2735872G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-2328G>A|||||||rs311093||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2735872G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-2331G>A|||||||rs311093||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2735872G>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|37|-40|32|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65297;gnomADv4_1_AC_joint_XX=33026;gnomADv4_1_AC_joint_XY=32271;gnomADv4_1_AF_grpmax_joint=0.490531;gnomADv4_1_AF_joint=0.430038;gnomADv4_1_AF_joint_XX=0.425352;gnomADv4_1_AF_joint_XY=0.434943;gnomADv4_1_AN_grpmax_joint=41400;gnomADv4_1_AN_joint=151840;gnomADv4_1_AN_joint_XX=77644;gnomADv4_1_AN_joint_XY=74196;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=14224;gnomADv4_1_nhomalt_joint_XX=7108;gnomADv4_1_nhomalt_joint_XY=7116;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2736018 chrX_2736018_T_C T C 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=33;CADD_PHREDscore=0.203;CADD_Rawscore=-0.423258;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-1863T>C|||||||rs5982842||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||T|T||||chrX:g.2736018T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs5982842|2351|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2736018T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-2182T>C|||||||rs5982842||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2736018T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-2182T>C|||||||rs5982842||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2736018T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs5982842|2346|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2736018T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-2185T>C|||||||rs5982842||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2736018T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-2185T>C|||||||rs5982842||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2736018T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-2185T>C|||||||rs5982842||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2736018T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-2182T>C|||||||rs5982842||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2736018T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding|9/9||NM_001321367.2:c.*2654T>C||3203|||||rs5982842||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2736018T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-2185T>C|||||||rs5982842||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2736018T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-2185T>C|||||||rs5982842||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2736018T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-2182T>C|||||||rs5982842||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2736018T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-2182T>C|||||||rs5982842||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2736018T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-2185T>C|||||||rs5982842||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2736018T>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|1|39|1|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3658;gnomADv4_1_AC_joint_XX=2006;gnomADv4_1_AC_joint_XY=1652;gnomADv4_1_AF_grpmax_joint=0.0748299;gnomADv4_1_AF_joint=0.0241385;gnomADv4_1_AF_joint_XX=0.0259086;gnomADv4_1_AF_joint_XY=0.0222894;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151542;gnomADv4_1_AN_joint_XX=77426;gnomADv4_1_AN_joint_XY=74116;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=117;gnomADv4_1_nhomalt_joint_XX=69;gnomADv4_1_nhomalt_joint_XY=48;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2736058 chrX_2736058_T_C T C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.497;CADD_Rawscore=-0.194799;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-1823T>C|||||||rs5982843||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||T|T||||chrX:g.2736058T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs5982843|2391|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2736058T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-2142T>C|||||||rs5982843||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2736058T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-2142T>C|||||||rs5982843||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2736058T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs5982843|2386|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2736058T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-2145T>C|||||||rs5982843||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2736058T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-2145T>C|||||||rs5982843||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2736058T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-2145T>C|||||||rs5982843||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2736058T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-2142T>C|||||||rs5982843||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2736058T>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding|9/9||NM_001321367.2:c.*2694T>C||3243|||||rs5982843||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2736058T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-2145T>C|||||||rs5982843||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2736058T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-2145T>C|||||||rs5982843||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2736058T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-2142T>C|||||||rs5982843||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2736058T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-2142T>C|||||||rs5982843||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2736058T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-2145T>C|||||||rs5982843||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2736058T>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|-1|25|47|-39;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3582;gnomADv4_1_AC_joint_XX=1951;gnomADv4_1_AC_joint_XY=1631;gnomADv4_1_AF_grpmax_joint=0.0748299;gnomADv4_1_AF_joint=0.0236408;gnomADv4_1_AF_joint_XX=0.0251781;gnomADv4_1_AF_joint_XY=0.0220316;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151518;gnomADv4_1_AN_joint_XX=77488;gnomADv4_1_AN_joint_XY=74030;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=113;gnomADv4_1_nhomalt_joint_XX=66;gnomADv4_1_nhomalt_joint_XY=47;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2736201 chrX_2736201_CAAAA_C CAAAA C 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADDIndel_PHREDscore=1.07;CADDIndel_Rawscore=-0.000332;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-1667_34-1664del|||||||rs748847590||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||AAAA|AAAA|||12|chrX:g.2736214_2736217del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs748847590|2535|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||AAAA|AAAA||||chrX:g.2736214_2736217del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-1986_428-1983del|||||||rs748847590||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||AAAA|AAAA|||12|chrX:g.2736214_2736217del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-1986_476-1983del|||||||rs748847590||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||AAAA|AAAA|||12|chrX:g.2736214_2736217del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs748847590|2530|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||AAAA|AAAA||||chrX:g.2736214_2736217del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-1989_*11-1986del|||||||rs748847590||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||AAAA|AAAA|||12|chrX:g.2736214_2736217del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-1989_*11-1986del|||||||rs748847590||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||AAAA|AAAA|||12|chrX:g.2736214_2736217del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-1989_476-1986del|||||||rs748847590||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||AAAA|AAAA|||12|chrX:g.2736214_2736217del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-1986_428-1983del|||||||rs748847590||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||AAAA|AAAA|||12|chrX:g.2736214_2736217del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding|9/9||NM_001321367.2:c.*2850_*2853del||3387-3390|||||rs748847590||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||AAAA|AAAA|||12|chrX:g.2736214_2736217del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-1989_476-1986del|||||||rs748847590||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||AAAA|AAAA|||12|chrX:g.2736214_2736217del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-1989_428-1986del|||||||rs748847590||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||AAAA|AAAA|||12|chrX:g.2736214_2736217del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-1986_425-1983del|||||||rs748847590||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||AAAA|AAAA|||12|chrX:g.2736214_2736217del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-1986_476-1983del|||||||rs748847590||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||AAAA|AAAA|||12|chrX:g.2736214_2736217del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-1989_560-1986del|||||||rs748847590||1||EntrezGene|HGNC:7082|||||||||RefSeq||AAAA|AAAA|||12|chrX:g.2736214_2736217del|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|23|-15|32|27;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60;gnomADv4_1_AC_joint_XX=10;gnomADv4_1_AC_joint_XY=50;gnomADv4_1_AF_grpmax_joint=0.000591191;gnomADv4_1_AF_joint=0.00074638;gnomADv4_1_AF_joint_XX=0.000234258;gnomADv4_1_AF_joint_XY=0.00132626;gnomADv4_1_AN_grpmax_joint=6766;gnomADv4_1_AN_joint=80388;gnomADv4_1_AN_joint_XX=42688;gnomADv4_1_AN_joint_XY=37700;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2736419 chrX_2736419_A_G A G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=4.604;CADD_Rawscore=0.419338;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-1462A>G|||||||rs311094||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||A|A||||chrX:g.2736419A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs311094|2752|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2736419A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-1781A>G|||||||rs311094||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2736419A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-1781A>G|||||||rs311094||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2736419A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs311094|2747|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2736419A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-1784A>G|||||||rs311094||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2736419A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-1784A>G|||||||rs311094||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2736419A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-1784A>G|||||||rs311094||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2736419A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-1781A>G|||||||rs311094||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2736419A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding|9/9||NM_001321367.2:c.*3055A>G||3604|||||rs311094||1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2736419A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-1784A>G|||||||rs311094||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2736419A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-1784A>G|||||||rs311094||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2736419A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-1781A>G|||||||rs311094||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2736419A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-1781A>G|||||||rs311094||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2736419A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-1784A>G|||||||rs311094||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2736419A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|-36|-3|-7|-36;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64842;gnomADv4_1_AC_joint_XX=32640;gnomADv4_1_AC_joint_XY=32202;gnomADv4_1_AF_grpmax_joint=0.486062;gnomADv4_1_AF_joint=0.427385;gnomADv4_1_AF_joint_XX=0.420359;gnomADv4_1_AF_joint_XY=0.434751;gnomADv4_1_AN_grpmax_joint=67872;gnomADv4_1_AN_joint=151718;gnomADv4_1_AN_joint_XX=77648;gnomADv4_1_AN_joint_XY=74070;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14175;gnomADv4_1_nhomalt_joint_XX=7107;gnomADv4_1_nhomalt_joint_XY=7068;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2736813 chrX_2736813_C_T C T 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.066;CADD_Rawscore=-0.723807;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-1068C>T|||||||rs35161052||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2736813C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs35161052|3146|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2736813C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-1387C>T|||||||rs35161052||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2736813C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-1387C>T|||||||rs35161052||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2736813C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs35161052|3141|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2736813C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-1390C>T|||||||rs35161052||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2736813C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-1390C>T|||||||rs35161052||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2736813C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-1390C>T|||||||rs35161052||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2736813C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-1387C>T|||||||rs35161052||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2736813C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs35161052|376|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2736813C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-1390C>T|||||||rs35161052||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2736813C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-1390C>T|||||||rs35161052||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2736813C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-1387C>T|||||||rs35161052||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2736813C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-1387C>T|||||||rs35161052||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2736813C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-1390C>T|||||||rs35161052||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2736813C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|16|28|-21|48;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8906;gnomADv4_1_AC_joint_XX=4763;gnomADv4_1_AC_joint_XY=4143;gnomADv4_1_AF_grpmax_joint=0.0828205;gnomADv4_1_AF_joint=0.0587064;gnomADv4_1_AF_joint_XX=0.0613884;gnomADv4_1_AF_joint_XY=0.0558989;gnomADv4_1_AN_grpmax_joint=67918;gnomADv4_1_AN_joint=151704;gnomADv4_1_AN_joint_XX=77588;gnomADv4_1_AN_joint_XY=74116;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=312;gnomADv4_1_nhomalt_joint_XX=178;gnomADv4_1_nhomalt_joint_XY=134;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2736884 chrX_2736884_TAAATAAA_T TAAATAAA T 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.576;CADDIndel_Rawscore=-0.157762;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-996_34-990del|||||||rs113726696||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||AAATAAA|AAATAAA||||chrX:g.2736885_2736891del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs113726696|3218|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||AAATAAA|AAATAAA||||chrX:g.2736885_2736891del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-1315_428-1309del|||||||rs113726696||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||AAATAAA|AAATAAA||||chrX:g.2736885_2736891del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-1315_476-1309del|||||||rs113726696||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||AAATAAA|AAATAAA||||chrX:g.2736885_2736891del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs113726696|3213|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||AAATAAA|AAATAAA||||chrX:g.2736885_2736891del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-1318_*11-1312del|||||||rs113726696||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||AAATAAA|AAATAAA||||chrX:g.2736885_2736891del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-1318_*11-1312del|||||||rs113726696||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||AAATAAA|AAATAAA||||chrX:g.2736885_2736891del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-1318_476-1312del|||||||rs113726696||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||AAATAAA|AAATAAA||||chrX:g.2736885_2736891del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-1315_428-1309del|||||||rs113726696||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||AAATAAA|AAATAAA||||chrX:g.2736885_2736891del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs113726696|448|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||AAATAAA|AAATAAA||||chrX:g.2736885_2736891del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-1318_476-1312del|||||||rs113726696||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||AAATAAA|AAATAAA||||chrX:g.2736885_2736891del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-1318_428-1312del|||||||rs113726696||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||AAATAAA|AAATAAA||||chrX:g.2736885_2736891del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-1315_425-1309del|||||||rs113726696||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||AAATAAA|AAATAAA||||chrX:g.2736885_2736891del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-1315_476-1309del|||||||rs113726696||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||AAATAAA|AAATAAA||||chrX:g.2736885_2736891del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-1318_560-1312del|||||||rs113726696||1||EntrezGene|HGNC:7082|||||||||RefSeq||AAATAAA|AAATAAA||||chrX:g.2736885_2736891del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9102;gnomADv4_1_AC_joint_XX=4889;gnomADv4_1_AC_joint_XY=4213;gnomADv4_1_AF_grpmax_joint=0.0833481;gnomADv4_1_AF_joint=0.0603213;gnomADv4_1_AF_joint_XX=0.0633241;gnomADv4_1_AF_joint_XY=0.057175;gnomADv4_1_AN_grpmax_joint=67788;gnomADv4_1_AN_joint=150892;gnomADv4_1_AN_joint_XX=77206;gnomADv4_1_AN_joint_XY=73686;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=325;gnomADv4_1_nhomalt_joint_XX=184;gnomADv4_1_nhomalt_joint_XY=141;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2736968 chrX_2736968_T_C T C 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.163;CADD_Rawscore=0.021402;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-913T>C|||||||rs35939958||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||T|T||||chrX:g.2736968T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs35939958|3301|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2736968T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-1232T>C|||||||rs35939958||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2736968T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-1232T>C|||||||rs35939958||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2736968T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs35939958|3296|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2736968T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-1235T>C|||||||rs35939958||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2736968T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-1235T>C|||||||rs35939958||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2736968T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-1235T>C|||||||rs35939958||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2736968T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-1232T>C|||||||rs35939958||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2736968T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs35939958|531|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2736968T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-1235T>C|||||||rs35939958||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2736968T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-1235T>C|||||||rs35939958||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2736968T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-1232T>C|||||||rs35939958||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2736968T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-1232T>C|||||||rs35939958||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2736968T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-1235T>C|||||||rs35939958||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2736968T>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|38|31|-16|21;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9625;gnomADv4_1_AC_joint_XX=5210;gnomADv4_1_AC_joint_XY=4415;gnomADv4_1_AF_grpmax_joint=0.0833799;gnomADv4_1_AF_joint=0.063344;gnomADv4_1_AF_joint_XX=0.0670631;gnomADv4_1_AF_joint_XY=0.0594533;gnomADv4_1_AN_grpmax_joint=67930;gnomADv4_1_AN_joint=151948;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=340;gnomADv4_1_nhomalt_joint_XX=195;gnomADv4_1_nhomalt_joint_XY=145;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2737091 chrX_2737091_T_C T C 55 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.6;CADD_Rawscore=-0.147459;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-790T>C|||||||rs311095||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||T|T||||chrX:g.2737091T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs311095|3424|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2737091T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-1109T>C|||||||rs311095||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2737091T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-1109T>C|||||||rs311095||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2737091T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs311095|3419|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2737091T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-1112T>C|||||||rs311095||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2737091T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-1112T>C|||||||rs311095||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2737091T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-1112T>C|||||||rs311095||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2737091T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-1109T>C|||||||rs311095||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2737091T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs311095|654|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2737091T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-1112T>C|||||||rs311095||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2737091T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-1112T>C|||||||rs311095||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2737091T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-1109T>C|||||||rs311095||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2737091T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-1109T>C|||||||rs311095||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2737091T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-1112T>C|||||||rs311095||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2737091T>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.01|0.00|-45|40|7|-46;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=143547;gnomADv4_1_AC_joint_XX=72929;gnomADv4_1_AC_joint_XY=70618;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.94409;gnomADv4_1_AF_joint_XX=0.937849;gnomADv4_1_AF_joint_XY=0.950623;gnomADv4_1_AN_grpmax_joint=5174;gnomADv4_1_AN_joint=152048;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=67808;gnomADv4_1_nhomalt_joint_XX=34240;gnomADv4_1_nhomalt_joint_XY=33568;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chrX 2737166 chrX_2737166_T_C T C 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=0.323;CADD_Rawscore=-0.302846;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-715T>C|||||||rs35427294||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||T|T||||chrX:g.2737166T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs35427294|3499|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2737166T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-1034T>C|||||||rs35427294||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2737166T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-1034T>C|||||||rs35427294||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2737166T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs35427294|3494|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2737166T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-1037T>C|||||||rs35427294||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2737166T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-1037T>C|||||||rs35427294||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2737166T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-1037T>C|||||||rs35427294||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2737166T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-1034T>C|||||||rs35427294||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2737166T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs35427294|729|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2737166T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-1037T>C|||||||rs35427294||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2737166T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-1037T>C|||||||rs35427294||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2737166T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-1034T>C|||||||rs35427294||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2737166T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-1034T>C|||||||rs35427294||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2737166T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-1037T>C|||||||rs35427294||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2737166T>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|-35|39|-35|-36;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6260;gnomADv4_1_AC_joint_XX=3568;gnomADv4_1_AC_joint_XY=2692;gnomADv4_1_AF_grpmax_joint=0.0558514;gnomADv4_1_AF_joint=0.0411528;gnomADv4_1_AF_joint_XX=0.0458836;gnomADv4_1_AF_joint_XY=0.0362052;gnomADv4_1_AN_grpmax_joint=67984;gnomADv4_1_AN_joint=152116;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=156;gnomADv4_1_nhomalt_joint_XX=107;gnomADv4_1_nhomalt_joint_XY=49;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2737291 chrX_2737291_T_C T C 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.945;CADD_Rawscore=-0.032408;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-590T>C|||||||rs150157458||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||T|T||||chrX:g.2737291T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs150157458|3624|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2737291T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-909T>C|||||||rs150157458||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2737291T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-909T>C|||||||rs150157458||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2737291T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs150157458|3619|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2737291T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-912T>C|||||||rs150157458||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2737291T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-912T>C|||||||rs150157458||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2737291T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-912T>C|||||||rs150157458||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2737291T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-909T>C|||||||rs150157458||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2737291T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs150157458|854|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2737291T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-912T>C|||||||rs150157458||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2737291T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-912T>C|||||||rs150157458||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2737291T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-909T>C|||||||rs150157458||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2737291T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-909T>C|||||||rs150157458||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2737291T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-912T>C|||||||rs150157458||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2737291T>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|29|6|29|-19;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6421;gnomADv4_1_AC_joint_XX=3678;gnomADv4_1_AC_joint_XY=2743;gnomADv4_1_AF_grpmax_joint=0.059322;gnomADv4_1_AF_joint=0.0451078;gnomADv4_1_AF_joint_XX=0.0503808;gnomADv4_1_AF_joint_XY=0.0395564;gnomADv4_1_AN_grpmax_joint=236;gnomADv4_1_AN_joint=142348;gnomADv4_1_AN_joint_XX=73004;gnomADv4_1_AN_joint_XY=69344;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=160;gnomADv4_1_nhomalt_joint_XX=110;gnomADv4_1_nhomalt_joint_XY=50;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2737310 chrX_2737310_G_T G T 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=0.397;CADD_Rawscore=-0.250807;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-571G>T|||||||rs770844||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2737310G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs770844|3643|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2737310G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-890G>T|||||||rs770844||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2737310G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-890G>T|||||||rs770844||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2737310G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs770844|3638|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2737310G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-893G>T|||||||rs770844||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2737310G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-893G>T|||||||rs770844||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2737310G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-893G>T|||||||rs770844||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2737310G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-890G>T|||||||rs770844||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2737310G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs770844|873|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2737310G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-893G>T|||||||rs770844||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2737310G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-893G>T|||||||rs770844||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2737310G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-890G>T|||||||rs770844||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2737310G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-890G>T|||||||rs770844||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2737310G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-893G>T|||||||rs770844||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2737310G>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|10|31|-2|10;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78700;gnomADv4_1_AC_joint_XX=40517;gnomADv4_1_AC_joint_XY=38183;gnomADv4_1_AF_grpmax_joint=0.629138;gnomADv4_1_AF_joint=0.531039;gnomADv4_1_AF_joint_XX=0.533399;gnomADv4_1_AF_joint_XY=0.528558;gnomADv4_1_AN_grpmax_joint=40600;gnomADv4_1_AN_joint=148200;gnomADv4_1_AN_joint_XX=75960;gnomADv4_1_AN_joint_XY=72240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20892;gnomADv4_1_nhomalt_joint_XX=10866;gnomADv4_1_nhomalt_joint_XY=10026;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2737322 chrX_2737322_T_C T C 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=3.776;CADD_Rawscore=0.345392;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-559T>C|||||||rs112357489||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||T|T||||chrX:g.2737322T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs112357489|3655|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2737322T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-878T>C|||||||rs112357489||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2737322T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-878T>C|||||||rs112357489||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2737322T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs112357489|3650|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2737322T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-881T>C|||||||rs112357489||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2737322T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-881T>C|||||||rs112357489||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2737322T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-881T>C|||||||rs112357489||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2737322T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-878T>C|||||||rs112357489||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2737322T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs112357489|885|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2737322T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-881T>C|||||||rs112357489||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2737322T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-881T>C|||||||rs112357489||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2737322T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-878T>C|||||||rs112357489||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2737322T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-878T>C|||||||rs112357489||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2737322T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-881T>C|||||||rs112357489||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2737322T>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|43|-2|-50|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5481;gnomADv4_1_AC_joint_XX=3170;gnomADv4_1_AC_joint_XY=2311;gnomADv4_1_AF_grpmax_joint=0.0556311;gnomADv4_1_AF_joint=0.0363964;gnomADv4_1_AF_joint_XX=0.0411165;gnomADv4_1_AF_joint_XY=0.0314447;gnomADv4_1_AN_grpmax_joint=67696;gnomADv4_1_AN_joint=150592;gnomADv4_1_AN_joint_XX=77098;gnomADv4_1_AN_joint_XY=73494;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=136;gnomADv4_1_nhomalt_joint_XX=98;gnomADv4_1_nhomalt_joint_XY=38;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2737325 chrX_2737325_A_C A C 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.679;CADD_Rawscore=-0.116753;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-556A>C|||||||rs113972249||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||A|A||||chrX:g.2737325A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs113972249|3658|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||A|A||||chrX:g.2737325A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-875A>C|||||||rs113972249||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2737325A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-875A>C|||||||rs113972249||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2737325A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs113972249|3653|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2737325A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-878A>C|||||||rs113972249||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2737325A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-878A>C|||||||rs113972249||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2737325A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-878A>C|||||||rs113972249||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2737325A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-875A>C|||||||rs113972249||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2737325A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs113972249|888|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2737325A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-878A>C|||||||rs113972249||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2737325A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-878A>C|||||||rs113972249||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2737325A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-875A>C|||||||rs113972249||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2737325A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-875A>C|||||||rs113972249||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2737325A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-878A>C|||||||rs113972249||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2737325A>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|3|38|-13|-5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5478;gnomADv4_1_AC_joint_XX=3169;gnomADv4_1_AC_joint_XY=2309;gnomADv4_1_AF_grpmax_joint=0.0555818;gnomADv4_1_AF_joint=0.0363234;gnomADv4_1_AF_joint_XX=0.041029;gnomADv4_1_AF_joint_XY=0.0313834;gnomADv4_1_AN_grpmax_joint=67738;gnomADv4_1_AN_joint=150812;gnomADv4_1_AN_joint_XX=77238;gnomADv4_1_AN_joint_XY=73574;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=137;gnomADv4_1_nhomalt_joint_XX=99;gnomADv4_1_nhomalt_joint_XY=38;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2737334 chrX_2737334_C_T C T 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=29;CADD_PHREDscore=0.449;CADD_Rawscore=-0.220026;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-547C>T|||||||rs111341305||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2737334C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs111341305|3667|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2737334C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-866C>T|||||||rs111341305||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2737334C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-866C>T|||||||rs111341305||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2737334C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs111341305|3662|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2737334C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-869C>T|||||||rs111341305||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2737334C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-869C>T|||||||rs111341305||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2737334C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-869C>T|||||||rs111341305||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2737334C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-866C>T|||||||rs111341305||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2737334C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs111341305|897|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2737334C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-869C>T|||||||rs111341305||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2737334C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-869C>T|||||||rs111341305||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2737334C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-866C>T|||||||rs111341305||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2737334C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-866C>T|||||||rs111341305||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2737334C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-869C>T|||||||rs111341305||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2737334C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|29|31|-14|15;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5488;gnomADv4_1_AC_joint_XX=3174;gnomADv4_1_AC_joint_XY=2314;gnomADv4_1_AF_grpmax_joint=0.0555687;gnomADv4_1_AF_joint=0.0362474;gnomADv4_1_AF_joint_XX=0.0409517;gnomADv4_1_AF_joint_XY=0.0313134;gnomADv4_1_AN_grpmax_joint=67880;gnomADv4_1_AN_joint=151404;gnomADv4_1_AN_joint_XX=77506;gnomADv4_1_AN_joint_XY=73898;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=138;gnomADv4_1_nhomalt_joint_XX=99;gnomADv4_1_nhomalt_joint_XY=39;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2737422 chrX_2737422_C_T C T 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.404;CADD_Rawscore=-0.246799;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-459C>T|||||||rs111668239||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2737422C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs111668239|3755|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2737422C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-778C>T|||||||rs111668239||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2737422C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-778C>T|||||||rs111668239||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2737422C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs111668239|3750|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2737422C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-781C>T|||||||rs111668239||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2737422C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-781C>T|||||||rs111668239||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2737422C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-781C>T|||||||rs111668239||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2737422C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-778C>T|||||||rs111668239||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2737422C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs111668239|985|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2737422C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-781C>T|||||||rs111668239||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2737422C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-781C>T|||||||rs111668239||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2737422C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-778C>T|||||||rs111668239||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2737422C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-778C>T|||||||rs111668239||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2737422C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-781C>T|||||||rs111668239||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2737422C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|-44|30|30|-11;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6543;gnomADv4_1_AC_joint_XX=3768;gnomADv4_1_AC_joint_XY=2775;gnomADv4_1_AF_grpmax_joint=0.538462;gnomADv4_1_AF_joint=0.508945;gnomADv4_1_AF_joint_XX=0.512653;gnomADv4_1_AF_joint_XY=0.503996;gnomADv4_1_AN_grpmax_joint=26;gnomADv4_1_AN_joint=12856;gnomADv4_1_AN_joint_XX=7350;gnomADv4_1_AN_joint_XY=5506;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=163;gnomADv4_1_nhomalt_joint_XX=112;gnomADv4_1_nhomalt_joint_XY=51;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2737426 chrX_2737426_T_TG T TG 49 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.895;CADDIndel_Rawscore=-0.046451;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-453dup|||||||rs563770948||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||||||2|chrX:g.2737428dup|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs563770948|3759|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl|||||||chrX:g.2737428dup|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-772dup|||||||rs563770948||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||2|chrX:g.2737428dup|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-772dup|||||||rs563770948||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||2|chrX:g.2737428dup|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs563770948|3754|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2737428dup|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-775dup|||||||rs563770948||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||2|chrX:g.2737428dup|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-775dup|||||||rs563770948||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||2|chrX:g.2737428dup|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-775dup|||||||rs563770948||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||2|chrX:g.2737428dup|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-772dup|||||||rs563770948||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||2|chrX:g.2737428dup|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs563770948|989|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq|||||||chrX:g.2737428dup|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-775dup|||||||rs563770948||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||2|chrX:g.2737428dup|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-775dup|||||||rs563770948||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||2|chrX:g.2737428dup|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-772dup|||||||rs563770948||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||2|chrX:g.2737428dup|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-772dup|||||||rs563770948||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||2|chrX:g.2737428dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-775dup|||||||rs563770948||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||2|chrX:g.2737428dup|||||||||||||;SpliceAI=TG|CD99|0.00|0.00|0.00|0.00|-2|26|47|26;TYPE=INDEL;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=151928;gnomADv4_1_AC_joint_XX=77693;gnomADv4_1_AC_joint_XY=74235;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999882;gnomADv4_1_AF_joint_XX=0.999884;gnomADv4_1_AF_joint_XY=0.999879;gnomADv4_1_AN_grpmax_joint=4800;gnomADv4_1_AN_joint=151946;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74244;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=75955;gnomADv4_1_nhomalt_joint_XX=38842;gnomADv4_1_nhomalt_joint_XY=37113;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2737564 chrX_2737564_G_A G A 48 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.243;CADD_Rawscore=-0.376209;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-317G>A|||||||rs28436248||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2737564G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs28436248|3897|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2737564G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-636G>A|||||||rs28436248||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2737564G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-636G>A|||||||rs28436248||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2737564G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs28436248|3892|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2737564G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-639G>A|||||||rs28436248||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2737564G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-639G>A|||||||rs28436248||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2737564G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-639G>A|||||||rs28436248||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2737564G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-636G>A|||||||rs28436248||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2737564G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs28436248|1127|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2737564G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-639G>A|||||||rs28436248||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2737564G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-639G>A|||||||rs28436248||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2737564G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-636G>A|||||||rs28436248||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2737564G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-636G>A|||||||rs28436248||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2737564G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-639G>A|||||||rs28436248||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2737564G>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|-46|-42|25|-42;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72031;gnomADv4_1_AC_joint_XX=36703;gnomADv4_1_AC_joint_XY=35328;gnomADv4_1_AF_grpmax_joint=0.601731;gnomADv4_1_AF_joint=0.491149;gnomADv4_1_AF_joint_XX=0.487773;gnomADv4_1_AF_joint_XY=0.494707;gnomADv4_1_AN_grpmax_joint=40312;gnomADv4_1_AN_joint=146658;gnomADv4_1_AN_joint_XX=75246;gnomADv4_1_AN_joint_XY=71412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17514;gnomADv4_1_nhomalt_joint_XX=8931;gnomADv4_1_nhomalt_joint_XY=8583;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2737617 chrX_2737617_C_A C A 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.526;CADD_Rawscore=0.092644;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-264C>A|||||||rs28659837||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2737617C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs28659837|3950|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2737617C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-583C>A|||||||rs28659837||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2737617C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-583C>A|||||||rs28659837||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2737617C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs28659837|3945|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2737617C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-586C>A|||||||rs28659837||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2737617C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-586C>A|||||||rs28659837||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2737617C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-586C>A|||||||rs28659837||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2737617C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-583C>A|||||||rs28659837||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2737617C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs28659837|1180|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2737617C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-586C>A|||||||rs28659837||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2737617C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-586C>A|||||||rs28659837||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2737617C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-583C>A|||||||rs28659837||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2737617C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-583C>A|||||||rs28659837||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2737617C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-586C>A|||||||rs28659837||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2737617C>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|41|-3|20|-9;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52709;gnomADv4_1_AC_joint_XX=26035;gnomADv4_1_AC_joint_XY=26674;gnomADv4_1_AF_grpmax_joint=0.381564;gnomADv4_1_AF_joint=0.347552;gnomADv4_1_AF_joint_XX=0.335554;gnomADv4_1_AF_joint_XY=0.360119;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=151658;gnomADv4_1_AN_joint_XX=77588;gnomADv4_1_AN_joint_XY=74070;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9146;gnomADv4_1_nhomalt_joint_XX=4421;gnomADv4_1_nhomalt_joint_XY=4725;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2737662 chrX_2737662_C_G C G 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.078;CADD_Rawscore=-0.679627;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||1/2|ENST00000381177.7:c.34-219C>G|||||||rs34991201||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2737662C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs34991201|3995|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||C|C||||chrX:g.2737662C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-538C>G|||||||rs34991201||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2737662C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-538C>G|||||||rs34991201||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2737662C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs34991201|3990|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2737662C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-541C>G|||||||rs34991201||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2737662C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-541C>G|||||||rs34991201||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2737662C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-541C>G|||||||rs34991201||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2737662C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-538C>G|||||||rs34991201||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2737662C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs34991201|1225|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2737662C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-541C>G|||||||rs34991201||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2737662C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-541C>G|||||||rs34991201||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2737662C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-538C>G|||||||rs34991201||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2737662C>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-538C>G|||||||rs34991201||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2737662C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-541C>G|||||||rs34991201||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2737662C>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|9|16|-6|-25;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6547;gnomADv4_1_AC_joint_XX=3780;gnomADv4_1_AC_joint_XY=2767;gnomADv4_1_AF_grpmax_joint=0.0580875;gnomADv4_1_AF_joint=0.0436507;gnomADv4_1_AF_joint_XX=0.049229;gnomADv4_1_AF_joint_XY=0.0377995;gnomADv4_1_AN_grpmax_joint=67450;gnomADv4_1_AN_joint=149986;gnomADv4_1_AN_joint_XX=76784;gnomADv4_1_AN_joint_XY=73202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=156;gnomADv4_1_nhomalt_joint_XX=109;gnomADv4_1_nhomalt_joint_XY=47;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2738139 chrX_2738139_T_C T C 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=2.382;CADD_Rawscore=0.210561;CSQ=C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay|2/3||ENST00000381177.7:c.*224T>C||292|||||rs35835388||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||T|T||||chrX:g.2738139T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs35835388|4472|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||T|T||||chrX:g.2738139T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||7/8|ENST00000381187.8:c.428-61T>C|||||||rs35835388||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2738139T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||8/9|ENST00000381192.10:c.476-61T>C|||||||rs35835388||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2738139T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs35835388|4467|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2738139T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||9/10|ENST00000611428.5:c.*11-64T>C|||||||rs35835388||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2738139T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||9/10|ENST00000623253.4:c.*11-64T>C|||||||rs35835388||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2738139T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||8/9|ENST00000624481.4:c.476-64T>C|||||||rs35835388||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2738139T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||7/8|NM_001122898.3:c.428-61T>C|||||||rs35835388||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2738139T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs35835388|1702|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2738139T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||8/9|NM_001321368.2:c.476-64T>C|||||||rs35835388||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2738139T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||7/8|NM_001321369.2:c.428-64T>C|||||||rs35835388||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2738139T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||7/8|NM_001321370.2:c.425-61T>C|||||||rs35835388||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2738139T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||8/9|NM_002414.5:c.476-61T>C|||||||rs35835388||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2738139T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||9/10|NR_135623.2:n.560-64T>C|||||||rs35835388||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2738139T>C|||||||||||||;REVEL_score=0.045;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|-39|31|-25|-8;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70670;gnomADv4_1_AC_joint_XX=39652;gnomADv4_1_AC_joint_XY=31018;gnomADv4_1_AF_grpmax_joint=0.0566368;gnomADv4_1_AF_joint=0.0480667;gnomADv4_1_AF_joint_XX=0.0539883;gnomADv4_1_AF_joint_XY=0.0421558;gnomADv4_1_AN_grpmax_joint=1048524;gnomADv4_1_AN_joint=1470250;gnomADv4_1_AN_joint_XX=734456;gnomADv4_1_AN_joint_XY=735794;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1957;gnomADv4_1_nhomalt_joint_XX=1254;gnomADv4_1_nhomalt_joint_XY=703;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2738217 chrX_2738217_G_A G A 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=3.526;CADD_Rawscore=0.323049;CSQ=A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay|2/3||ENST00000381177.7:c.*302G>A||370|||||rs11556084||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2738217G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs11556084|4550|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2738217G>A|||||||||||||,A|missense_variant|MODERATE|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding|8/9||ENST00000381187.8:c.445G>A|ENSP00000370582.3:p.Asp149Asn|530|445|149|D/N|Gac/Aac|rs11556084||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2738217G>A|||||||||||||,A|missense_variant|MODERATE|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding|9/10||ENST00000381192.10:c.493G>A|ENSP00000370588.3:p.Asp165Asn|559|493|165|D/N|Gac/Aac|rs11556084||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2738217G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs11556084|4545|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2738217G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding|10/11||ENST00000611428.5:c.*25G>A||682|||||rs11556084||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2738217G>A|||||||||||||,A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay|10/11||ENST00000623253.4:c.*25G>A||508|||||rs11556084||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2738217G>A|||||||||||||,A|missense_variant|MODERATE|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding|9/10||ENST00000624481.4:c.490G>A|ENSP00000485427.1:p.Asp164Asn|538|490|164|D/N|Gac/Aac|rs11556084||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2738217G>A|||||||||||||,A|missense_variant|MODERATE|CD99|4267|Transcript|NM_001122898.3|protein_coding|8/9||NM_001122898.3:c.445G>A|NP_001116370.1:p.Asp149Asn|511|445|149|D/N|Gac/Aac|rs11556084||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2738217G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs11556084|1780|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2738217G>A|||||||||||||,A|missense_variant|MODERATE|CD99|4267|Transcript|NM_001321368.2|protein_coding|9/10||NM_001321368.2:c.490G>A|NP_001308297.1:p.Asp164Asn|556|490|164|D/N|Gac/Aac|rs11556084||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2738217G>A|||||||||||||,A|missense_variant|MODERATE|CD99|4267|Transcript|NM_001321369.2|protein_coding|8/9||NM_001321369.2:c.442G>A|NP_001308298.1:p.Asp148Asn|508|442|148|D/N|Gac/Aac|rs11556084||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2738217G>A|||||||||||||,A|missense_variant|MODERATE|CD99|4267|Transcript|NM_001321370.2|protein_coding|8/9||NM_001321370.2:c.442G>A|NP_001308299.1:p.Asp148Asn|508|442|148|D/N|Gac/Aac|rs11556084||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2738217G>A|||||||||||||,A|missense_variant|MODERATE|CD99|4267|Transcript|NM_002414.5|protein_coding|9/10||NM_002414.5:c.493G>A|NP_002405.1:p.Asp165Asn|559|493|165|D/N|Gac/Aac|rs11556084||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2738217G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA|10/11||NR_135623.2:n.574G>A||574|||||rs11556084||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2738217G>A|||||||||||||;REVEL_score=0.015;SpliceAI=A|CD99|0.01|0.00|0.00|0.00|-14|31|-4|39;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78903;gnomADv4_1_AC_joint_XX=44502;gnomADv4_1_AC_joint_XY=34401;gnomADv4_1_AF_grpmax_joint=0.0585268;gnomADv4_1_AF_joint=0.0488978;gnomADv4_1_AF_joint_XX=0.0547919;gnomADv4_1_AF_joint_XY=0.0429244;gnomADv4_1_AN_grpmax_joint=1179614;gnomADv4_1_AN_joint=1613632;gnomADv4_1_AN_joint_XX=812200;gnomADv4_1_AN_joint_XY=801432;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2261;gnomADv4_1_nhomalt_joint_XX=1454;gnomADv4_1_nhomalt_joint_XY=807;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2738394 chrX_2738394_G_A G A 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=0.719;CADD_Rawscore=-0.102026;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||2/2|ENST00000381177.7:c.*341+138G>A|||||||rs34174423||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2738394G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381184|protein_coding||||||||||rs34174423|4727|1||HGNC|HGNC:7082|5||ENSP00000370579||A8MQT7.89|UPI00004182BB|||Ensembl||G|G||||chrX:g.2738394G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||8/8|ENST00000381187.8:c.484+138G>A|||||||rs34174423||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2738394G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||9/9|ENST00000381192.10:c.532+138G>A|||||||rs34174423||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2738394G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000482405|protein_coding||||||||||rs34174423|4722|1||HGNC|HGNC:7082|2|CCDS75947.1|ENSP00000494027|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2738394G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||10/10|ENST00000611428.5:c.*64+138G>A|||||||rs34174423||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2738394G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||10/10|ENST00000623253.4:c.*64+138G>A|||||||rs34174423||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2738394G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||9/9|ENST00000624481.4:c.529+138G>A|||||||rs34174423||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2738394G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||8/8|NM_001122898.3:c.484+138G>A|||||||rs34174423||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2738394G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs34174423|1957|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2738394G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||9/9|NM_001321368.2:c.529+138G>A|||||||rs34174423||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2738394G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||8/8|NM_001321369.2:c.481+138G>A|||||||rs34174423||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2738394G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||8/8|NM_001321370.2:c.481+138G>A|||||||rs34174423||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2738394G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||9/9|NM_002414.5:c.532+138G>A|||||||rs34174423||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2738394G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||10/10|NR_135623.2:n.613+138G>A|||||||rs34174423||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2738394G>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|9|12|-25|-35;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381184,ENST00000381187,ENST00000381192,ENST00000482405,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36238;gnomADv4_1_AC_joint_XX=19830;gnomADv4_1_AC_joint_XY=16408;gnomADv4_1_AF_grpmax_joint=0.0549652;gnomADv4_1_AF_joint=0.0444333;gnomADv4_1_AF_joint_XX=0.0507169;gnomADv4_1_AF_joint_XY=0.0386465;gnomADv4_1_AN_grpmax_joint=475574;gnomADv4_1_AN_joint=815560;gnomADv4_1_AN_joint_XX=390994;gnomADv4_1_AN_joint_XY=424566;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=947;gnomADv4_1_nhomalt_joint_XX=589;gnomADv4_1_nhomalt_joint_XY=358;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2738809 chrX_2738809_C_T C T 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.51;CADD_Rawscore=-0.188132;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||2/2|ENST00000381177.7:c.*341+553C>T|||||||rs1683997||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2738809C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||8/8|ENST00000381187.8:c.484+553C>T|||||||rs1683997||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2738809C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||9/9|ENST00000381192.10:c.532+553C>T|||||||rs1683997||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2738809C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||10/10|ENST00000611428.5:c.*64+553C>T|||||||rs1683997||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2738809C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||10/10|ENST00000623253.4:c.*64+553C>T|||||||rs1683997||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2738809C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||9/9|ENST00000624481.4:c.529+553C>T|||||||rs1683997||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2738809C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||8/8|NM_001122898.3:c.484+553C>T|||||||rs1683997||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2738809C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs1683997|2372|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2738809C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||9/9|NM_001321368.2:c.529+553C>T|||||||rs1683997||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2738809C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||8/8|NM_001321369.2:c.481+553C>T|||||||rs1683997||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2738809C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||8/8|NM_001321370.2:c.481+553C>T|||||||rs1683997||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2738809C>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||9/9|NM_002414.5:c.532+553C>T|||||||rs1683997||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2738809C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||10/10|NR_135623.2:n.613+553C>T|||||||rs1683997||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2738809C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|28|40|-22|28;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80445;gnomADv4_1_AC_joint_XX=41557;gnomADv4_1_AC_joint_XY=38888;gnomADv4_1_AF_grpmax_joint=0.61493;gnomADv4_1_AF_joint=0.530892;gnomADv4_1_AF_joint_XX=0.535805;gnomADv4_1_AF_joint_XY=0.525741;gnomADv4_1_AN_grpmax_joint=41286;gnomADv4_1_AN_joint=151528;gnomADv4_1_AN_joint_XX=77560;gnomADv4_1_AN_joint_XY=73968;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=21672;gnomADv4_1_nhomalt_joint_XX=11349;gnomADv4_1_nhomalt_joint_XY=10323;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2739195 chrX_2739195_A_C A C 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=0.667;CADD_Rawscore=-0.120881;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||2/2|ENST00000381177.7:c.*341+939A>C|||||||rs28445675||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||A|A||||chrX:g.2739195A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||8/8|ENST00000381187.8:c.484+939A>C|||||||rs28445675||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2739195A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||9/9|ENST00000381192.10:c.532+939A>C|||||||rs28445675||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2739195A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||10/10|ENST00000611428.5:c.*64+939A>C|||||||rs28445675||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2739195A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||10/10|ENST00000623253.4:c.*64+939A>C|||||||rs28445675||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2739195A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||9/9|ENST00000624481.4:c.529+939A>C|||||||rs28445675||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2739195A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||8/8|NM_001122898.3:c.484+939A>C|||||||rs28445675||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2739195A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs28445675|2758|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2739195A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||9/9|NM_001321368.2:c.529+939A>C|||||||rs28445675||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2739195A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||8/8|NM_001321369.2:c.481+939A>C|||||||rs28445675||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2739195A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||8/8|NM_001321370.2:c.481+939A>C|||||||rs28445675||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2739195A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||9/9|NM_002414.5:c.532+939A>C|||||||rs28445675||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2739195A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||10/10|NR_135623.2:n.613+939A>C|||||||rs28445675||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2739195A>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|6|2|17|5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7500;gnomADv4_1_AC_joint_XX=4468;gnomADv4_1_AC_joint_XY=3032;gnomADv4_1_AF_grpmax_joint=0.0601488;gnomADv4_1_AF_joint=0.0492967;gnomADv4_1_AF_joint_XX=0.0574544;gnomADv4_1_AF_joint_XY=0.0407669;gnomADv4_1_AN_grpmax_joint=67998;gnomADv4_1_AN_joint=152140;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=74374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=209;gnomADv4_1_nhomalt_joint_XX=152;gnomADv4_1_nhomalt_joint_XY=57;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2739313 chrX_2739313_G_T G T 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.202;CADD_Rawscore=-0.424576;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||2/2|ENST00000381177.7:c.*341+1057G>T|||||||rs28709618||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2739313G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||8/8|ENST00000381187.8:c.484+1057G>T|||||||rs28709618||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2739313G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||9/9|ENST00000381192.10:c.532+1057G>T|||||||rs28709618||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2739313G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||10/10|ENST00000611428.5:c.*64+1057G>T|||||||rs28709618||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2739313G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||10/10|ENST00000623253.4:c.*64+1057G>T|||||||rs28709618||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2739313G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||9/9|ENST00000624481.4:c.529+1057G>T|||||||rs28709618||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2739313G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||8/8|NM_001122898.3:c.484+1057G>T|||||||rs28709618||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2739313G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs28709618|2876|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2739313G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||9/9|NM_001321368.2:c.529+1057G>T|||||||rs28709618||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2739313G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||8/8|NM_001321369.2:c.481+1057G>T|||||||rs28709618||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2739313G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||8/8|NM_001321370.2:c.481+1057G>T|||||||rs28709618||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2739313G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||9/9|NM_002414.5:c.532+1057G>T|||||||rs28709618||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2739313G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||10/10|NR_135623.2:n.613+1057G>T|||||||rs28709618||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2739313G>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|-20|-5|7|-5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7680;gnomADv4_1_AC_joint_XX=4571;gnomADv4_1_AC_joint_XY=3109;gnomADv4_1_AF_grpmax_joint=0.0585848;gnomADv4_1_AF_joint=0.0504559;gnomADv4_1_AF_joint_XX=0.0587532;gnomADv4_1_AF_joint_XY=0.0417809;gnomADv4_1_AN_grpmax_joint=68004;gnomADv4_1_AN_joint=152212;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=214;gnomADv4_1_nhomalt_joint_XX=155;gnomADv4_1_nhomalt_joint_XY=59;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2739337 chrX_2739337_A_C A C 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.06;CADD_Rawscore=-0.750725;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||2/2|ENST00000381177.7:c.*341+1081A>C|||||||rs28369641||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||A|A||||chrX:g.2739337A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||8/8|ENST00000381187.8:c.484+1081A>C|||||||rs28369641||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2739337A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||9/9|ENST00000381192.10:c.532+1081A>C|||||||rs28369641||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2739337A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||10/10|ENST00000611428.5:c.*64+1081A>C|||||||rs28369641||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2739337A>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||10/10|ENST00000623253.4:c.*64+1081A>C|||||||rs28369641||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2739337A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||9/9|ENST00000624481.4:c.529+1081A>C|||||||rs28369641||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2739337A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||8/8|NM_001122898.3:c.484+1081A>C|||||||rs28369641||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2739337A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs28369641|2900|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2739337A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||9/9|NM_001321368.2:c.529+1081A>C|||||||rs28369641||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2739337A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||8/8|NM_001321369.2:c.481+1081A>C|||||||rs28369641||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2739337A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||8/8|NM_001321370.2:c.481+1081A>C|||||||rs28369641||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2739337A>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||9/9|NM_002414.5:c.532+1081A>C|||||||rs28369641||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2739337A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||10/10|NR_135623.2:n.613+1081A>C|||||||rs28369641||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2739337A>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|-31|-22|-31|-29;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7712;gnomADv4_1_AC_joint_XX=4588;gnomADv4_1_AC_joint_XY=3124;gnomADv4_1_AF_grpmax_joint=0.0587604;gnomADv4_1_AF_joint=0.0506768;gnomADv4_1_AF_joint_XX=0.0589899;gnomADv4_1_AF_joint_XY=0.041987;gnomADv4_1_AN_grpmax_joint=67988;gnomADv4_1_AN_joint=152180;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=74404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=224;gnomADv4_1_nhomalt_joint_XX=161;gnomADv4_1_nhomalt_joint_XY=63;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2739445 chrX_2739445_A_G A G 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.111;CADD_Rawscore=-0.583093;CSQ=G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||2/2|ENST00000381177.7:c.*341+1189A>G|||||||rs73188889||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||A|A||||chrX:g.2739445A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||8/8|ENST00000381187.8:c.484+1189A>G|||||||rs73188889||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2739445A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||9/9|ENST00000381192.10:c.532+1189A>G|||||||rs73188889||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2739445A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||10/10|ENST00000611428.5:c.*64+1189A>G|||||||rs73188889||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2739445A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||10/10|ENST00000623253.4:c.*64+1189A>G|||||||rs73188889||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2739445A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||9/9|ENST00000624481.4:c.529+1189A>G|||||||rs73188889||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2739445A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||8/8|NM_001122898.3:c.484+1189A>G|||||||rs73188889||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2739445A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs73188889|3008|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||A|A||||chrX:g.2739445A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||9/9|NM_001321368.2:c.529+1189A>G|||||||rs73188889||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2739445A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||8/8|NM_001321369.2:c.481+1189A>G|||||||rs73188889||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2739445A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||8/8|NM_001321370.2:c.481+1189A>G|||||||rs73188889||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2739445A>G|||||||||||||,G|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||9/9|NM_002414.5:c.532+1189A>G|||||||rs73188889||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2739445A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||10/10|NR_135623.2:n.613+1189A>G|||||||rs73188889||1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2739445A>G|||||||||||||;SpliceAI=G|CD99|0.00|0.00|0.00|0.00|26|-39|-1|50;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7698;gnomADv4_1_AC_joint_XX=4575;gnomADv4_1_AC_joint_XY=3123;gnomADv4_1_AF_grpmax_joint=0.0588651;gnomADv4_1_AF_joint=0.0507115;gnomADv4_1_AF_joint_XX=0.0589638;gnomADv4_1_AF_joint_XY=0.0420833;gnomADv4_1_AN_grpmax_joint=67884;gnomADv4_1_AN_joint=151800;gnomADv4_1_AN_joint_XX=77590;gnomADv4_1_AN_joint_XY=74210;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=220;gnomADv4_1_nhomalt_joint_XX=158;gnomADv4_1_nhomalt_joint_XY=62;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2739460 chrX_2739460_T_A T A 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.897;CADD_Rawscore=0.264486;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||2/2|ENST00000381177.7:c.*341+1204T>A|||||||rs73188890||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||T|T||||chrX:g.2739460T>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||8/8|ENST00000381187.8:c.484+1204T>A|||||||rs73188890||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2739460T>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||9/9|ENST00000381192.10:c.532+1204T>A|||||||rs73188890||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2739460T>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||10/10|ENST00000611428.5:c.*64+1204T>A|||||||rs73188890||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2739460T>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||10/10|ENST00000623253.4:c.*64+1204T>A|||||||rs73188890||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2739460T>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||9/9|ENST00000624481.4:c.529+1204T>A|||||||rs73188890||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2739460T>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||8/8|NM_001122898.3:c.484+1204T>A|||||||rs73188890||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2739460T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs73188890|3023|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2739460T>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||9/9|NM_001321368.2:c.529+1204T>A|||||||rs73188890||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2739460T>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||8/8|NM_001321369.2:c.481+1204T>A|||||||rs73188890||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2739460T>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||8/8|NM_001321370.2:c.481+1204T>A|||||||rs73188890||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2739460T>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||9/9|NM_002414.5:c.532+1204T>A|||||||rs73188890||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2739460T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||10/10|NR_135623.2:n.613+1204T>A|||||||rs73188890||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2739460T>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|35|11|-3|48;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7788;gnomADv4_1_AC_joint_XX=4626;gnomADv4_1_AC_joint_XY=3162;gnomADv4_1_AF_grpmax_joint=0.0590885;gnomADv4_1_AF_joint=0.0512085;gnomADv4_1_AF_joint_XX=0.0595015;gnomADv4_1_AF_joint_XY=0.0425354;gnomADv4_1_AN_grpmax_joint=41514;gnomADv4_1_AN_joint=152084;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=227;gnomADv4_1_nhomalt_joint_XX=162;gnomADv4_1_nhomalt_joint_XY=65;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2739920 chrX_2739920_T_TA;chrX_2739920_T_TAA T TA 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=0.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=37;CADDIndel_PHREDscore=0.694;CADDIndel_Rawscore=-0.11094;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||2/2|ENST00000381177.7:c.*342-837dup|||||||rs760923352||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||||||22|chrX:g.2739942dup|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||8/8|ENST00000381187.8:c.485-837dup|||||||rs760923352||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||22|chrX:g.2739942dup|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||9/9|ENST00000381192.10:c.533-837dup|||||||rs760923352||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||22|chrX:g.2739942dup|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||10/10|ENST00000611428.5:c.*65-837dup|||||||rs760923352||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||22|chrX:g.2739942dup|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||10/10|ENST00000623253.4:c.*65-837dup|||||||rs760923352||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||22|chrX:g.2739942dup|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||9/9|ENST00000624481.4:c.530-837dup|||||||rs760923352||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||22|chrX:g.2739942dup|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||8/8|NM_001122898.3:c.485-837dup|||||||rs760923352||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||22|chrX:g.2739942dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs760923352|3483|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq|||||||chrX:g.2739942dup|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||9/9|NM_001321368.2:c.530-837dup|||||||rs760923352||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||22|chrX:g.2739942dup|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||8/8|NM_001321369.2:c.482-837dup|||||||rs760923352||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||22|chrX:g.2739942dup|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||8/8|NM_001321370.2:c.482-837dup|||||||rs760923352||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||22|chrX:g.2739942dup|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||9/9|NM_002414.5:c.533-837dup|||||||rs760923352||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||22|chrX:g.2739942dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||10/10|NR_135623.2:n.614-837dup|||||||rs760923352||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||22|chrX:g.2739942dup|||||||||||||;SpliceAI=TA|CD99|0.00|0.00|0.00|0.00|45|27|-3|-9;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23134;gnomADv4_1_AC_joint_XX=11886;gnomADv4_1_AC_joint_XY=11248;gnomADv4_1_AF_grpmax_joint=0.366297;gnomADv4_1_AF_joint=0.210164;gnomADv4_1_AF_joint_XX=0.205889;gnomADv4_1_AF_joint_XY=0.214878;gnomADv4_1_AN_grpmax_joint=29730;gnomADv4_1_AN_joint=110076;gnomADv4_1_AN_joint_XX=57730;gnomADv4_1_AN_joint_XY=52346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2761;gnomADv4_1_nhomalt_joint_XX=1525;gnomADv4_1_nhomalt_joint_XY=1236;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2739920 chrX_2739920_T_TA;chrX_2739920_T_TAA T TAA 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=29;CADDIndel_PHREDscore=0.652;CADDIndel_Rawscore=-0.12673;CSQ=AA|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||2/2|ENST00000381177.7:c.*342-838_*342-837dup|||||||rs760923352||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||||||22|chrX:g.2739941_2739942dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||8/8|ENST00000381187.8:c.485-838_485-837dup|||||||rs760923352||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||22|chrX:g.2739941_2739942dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||9/9|ENST00000381192.10:c.533-838_533-837dup|||||||rs760923352||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||22|chrX:g.2739941_2739942dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||10/10|ENST00000611428.5:c.*65-838_*65-837dup|||||||rs760923352||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||22|chrX:g.2739941_2739942dup|||||||||||||,AA|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||10/10|ENST00000623253.4:c.*65-838_*65-837dup|||||||rs760923352||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||22|chrX:g.2739941_2739942dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||9/9|ENST00000624481.4:c.530-838_530-837dup|||||||rs760923352||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||22|chrX:g.2739941_2739942dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||8/8|NM_001122898.3:c.485-838_485-837dup|||||||rs760923352||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||22|chrX:g.2739941_2739942dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs760923352|3483|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq|||||||chrX:g.2739941_2739942dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||9/9|NM_001321368.2:c.530-838_530-837dup|||||||rs760923352||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||22|chrX:g.2739941_2739942dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||8/8|NM_001321369.2:c.482-838_482-837dup|||||||rs760923352||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||22|chrX:g.2739941_2739942dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||8/8|NM_001321370.2:c.482-838_482-837dup|||||||rs760923352||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||22|chrX:g.2739941_2739942dup|||||||||||||,AA|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||9/9|NM_002414.5:c.533-838_533-837dup|||||||rs760923352||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||22|chrX:g.2739941_2739942dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||10/10|NR_135623.2:n.614-838_614-837dup|||||||rs760923352||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||22|chrX:g.2739941_2739942dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=11043;gnomADv4_1_AC_joint_XX=6031;gnomADv4_1_AC_joint_XY=5012;gnomADv4_1_AF_grpmax_joint=0.152174;gnomADv4_1_AF_joint=0.10044;gnomADv4_1_AF_joint_XX=0.104589;gnomADv4_1_AF_joint_XY=0.0958647;gnomADv4_1_AN_grpmax_joint=184;gnomADv4_1_AN_joint=109946;gnomADv4_1_AN_joint_XX=57664;gnomADv4_1_AN_joint_XY=52282;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=544;gnomADv4_1_nhomalt_joint_XX=311;gnomADv4_1_nhomalt_joint_XY=233;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2740095 chrX_2740095_AAAT_A AAAT A 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADDIndel_PHREDscore=0.852;CADDIndel_Rawscore=-0.058961;CSQ=-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||2/2|ENST00000381177.7:c.*342-666_*342-664del|||||||rs201441438||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||AAT|AAT|||17|chrX:g.2740113_2740115del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||8/8|ENST00000381187.8:c.485-666_485-664del|||||||rs201441438||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||AAT|AAT|||17|chrX:g.2740113_2740115del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||9/9|ENST00000381192.10:c.533-666_533-664del|||||||rs201441438||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||AAT|AAT|||17|chrX:g.2740113_2740115del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||10/10|ENST00000611428.5:c.*65-666_*65-664del|||||||rs201441438||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||AAT|AAT|||17|chrX:g.2740113_2740115del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||10/10|ENST00000623253.4:c.*65-666_*65-664del|||||||rs201441438||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||AAT|AAT|||17|chrX:g.2740113_2740115del|||||||||||||,-|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||9/9|ENST00000624481.4:c.530-666_530-664del|||||||rs201441438||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||AAT|AAT|||17|chrX:g.2740113_2740115del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||8/8|NM_001122898.3:c.485-666_485-664del|||||||rs201441438||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||AAT|AAT|||17|chrX:g.2740113_2740115del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs201441438|3659|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||AAT|AAT||||chrX:g.2740113_2740115del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||9/9|NM_001321368.2:c.530-666_530-664del|||||||rs201441438||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||AAT|AAT|||17|chrX:g.2740113_2740115del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||8/8|NM_001321369.2:c.482-666_482-664del|||||||rs201441438||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||AAT|AAT|||17|chrX:g.2740113_2740115del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||8/8|NM_001321370.2:c.482-666_482-664del|||||||rs201441438||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||AAT|AAT|||17|chrX:g.2740113_2740115del|||||||||||||,-|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||9/9|NM_002414.5:c.533-666_533-664del|||||||rs201441438||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||AAT|AAT|||17|chrX:g.2740113_2740115del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||10/10|NR_135623.2:n.614-666_614-664del|||||||rs201441438||1||EntrezGene|HGNC:7082|||||||||RefSeq||AAT|AAT|||17|chrX:g.2740113_2740115del|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|32|2|26|1;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30173;gnomADv4_1_AC_joint_XX=14646;gnomADv4_1_AC_joint_XY=15527;gnomADv4_1_AF_grpmax_joint=0.261118;gnomADv4_1_AF_joint=0.200068;gnomADv4_1_AF_joint_XX=0.189592;gnomADv4_1_AF_joint_XY=0.211068;gnomADv4_1_AN_grpmax_joint=41016;gnomADv4_1_AN_joint=150814;gnomADv4_1_AN_joint_XX=77250;gnomADv4_1_AN_joint_XY=73564;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3165;gnomADv4_1_nhomalt_joint_XX=1520;gnomADv4_1_nhomalt_joint_XY=1645;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2740118 chrX_2740118_G_A G A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=3.675;CADD_Rawscore=0.336361;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||2/2|ENST00000381177.7:c.*342-661G>A|||||||rs939050433||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2740118G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||8/8|ENST00000381187.8:c.485-661G>A|||||||rs939050433||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2740118G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||9/9|ENST00000381192.10:c.533-661G>A|||||||rs939050433||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2740118G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||10/10|ENST00000611428.5:c.*65-661G>A|||||||rs939050433||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2740118G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||10/10|ENST00000623253.4:c.*65-661G>A|||||||rs939050433||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2740118G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||9/9|ENST00000624481.4:c.530-661G>A|||||||rs939050433||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2740118G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||8/8|NM_001122898.3:c.485-661G>A|||||||rs939050433||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2740118G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs939050433|3681|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2740118G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||9/9|NM_001321368.2:c.530-661G>A|||||||rs939050433||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2740118G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||8/8|NM_001321369.2:c.482-661G>A|||||||rs939050433||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2740118G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||8/8|NM_001321370.2:c.482-661G>A|||||||rs939050433||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2740118G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||9/9|NM_002414.5:c.533-661G>A|||||||rs939050433||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2740118G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||10/10|NR_135623.2:n.614-661G>A|||||||rs939050433||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2740118G>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|3|1|3|31;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19;gnomADv4_1_AC_joint_XX=12;gnomADv4_1_AC_joint_XY=7;gnomADv4_1_AF_grpmax_joint=0.000198623;gnomADv4_1_AF_joint=0.000125871;gnomADv4_1_AF_joint_XX=0.000155239;gnomADv4_1_AF_joint_XY=9.50467e-05;gnomADv4_1_AN_grpmax_joint=15104;gnomADv4_1_AN_joint=150948;gnomADv4_1_AN_joint_XX=77300;gnomADv4_1_AN_joint_XY=73648;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2740258 chrX_2740258_G_A G A 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.046;CADD_Rawscore=-0.006157;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||2/2|ENST00000381177.7:c.*342-521G>A|||||||rs312259||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2740258G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||8/8|ENST00000381187.8:c.485-521G>A|||||||rs312259||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2740258G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||9/9|ENST00000381192.10:c.533-521G>A|||||||rs312259||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2740258G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||10/10|ENST00000611428.5:c.*65-521G>A|||||||rs312259||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2740258G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||10/10|ENST00000623253.4:c.*65-521G>A|||||||rs312259||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2740258G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||9/9|ENST00000624481.4:c.530-521G>A|||||||rs312259||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2740258G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||8/8|NM_001122898.3:c.485-521G>A|||||||rs312259||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2740258G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs312259|3821|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2740258G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||9/9|NM_001321368.2:c.530-521G>A|||||||rs312259||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2740258G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||8/8|NM_001321369.2:c.482-521G>A|||||||rs312259||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2740258G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||8/8|NM_001321370.2:c.482-521G>A|||||||rs312259||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2740258G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||9/9|NM_002414.5:c.533-521G>A|||||||rs312259||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2740258G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||10/10|NR_135623.2:n.614-521G>A|||||||rs312259||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2740258G>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|-13|41|-7|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=38064;gnomADv4_1_AC_joint_XX=19212;gnomADv4_1_AC_joint_XY=18852;gnomADv4_1_AF_grpmax_joint=0.313996;gnomADv4_1_AF_joint=0.250457;gnomADv4_1_AF_joint_XX=0.247373;gnomADv4_1_AF_joint_XY=0.25368;gnomADv4_1_AN_grpmax_joint=41440;gnomADv4_1_AN_joint=151978;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74314;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5087;gnomADv4_1_nhomalt_joint_XX=2609;gnomADv4_1_nhomalt_joint_XY=2478;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2740275 chrX_2740275_G_T G T 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.052;CADD_Rawscore=-0.004775;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||2/2|ENST00000381177.7:c.*342-504G>T|||||||rs312258||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2740275G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||8/8|ENST00000381187.8:c.485-504G>T|||||||rs312258||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2740275G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||9/9|ENST00000381192.10:c.533-504G>T|||||||rs312258||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2740275G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||10/10|ENST00000611428.5:c.*65-504G>T|||||||rs312258||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2740275G>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||10/10|ENST00000623253.4:c.*65-504G>T|||||||rs312258||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2740275G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||9/9|ENST00000624481.4:c.530-504G>T|||||||rs312258||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2740275G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||8/8|NM_001122898.3:c.485-504G>T|||||||rs312258||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2740275G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs312258|3838|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2740275G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||9/9|NM_001321368.2:c.530-504G>T|||||||rs312258||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2740275G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||8/8|NM_001321369.2:c.482-504G>T|||||||rs312258||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2740275G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||8/8|NM_001321370.2:c.482-504G>T|||||||rs312258||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2740275G>T|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||9/9|NM_002414.5:c.533-504G>T|||||||rs312258||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2740275G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||10/10|NR_135623.2:n.614-504G>T|||||||rs312258||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2740275G>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|-24|24|-24|-32;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37994;gnomADv4_1_AC_joint_XX=19177;gnomADv4_1_AC_joint_XY=18817;gnomADv4_1_AF_grpmax_joint=0.312756;gnomADv4_1_AF_joint=0.249954;gnomADv4_1_AF_joint_XX=0.246776;gnomADv4_1_AF_joint_XY=0.253278;gnomADv4_1_AN_grpmax_joint=41470;gnomADv4_1_AN_joint=152004;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5068;gnomADv4_1_nhomalt_joint_XX=2601;gnomADv4_1_nhomalt_joint_XY=2467;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2740579 chrX_2740579_A_AT A AT 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=1.238;CADDIndel_Rawscore=0.037673;CSQ=T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||2/2|ENST00000381177.7:c.*342-192dup|||||||rs34093066||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||||||8|chrX:g.2740587dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||8/8|ENST00000381187.8:c.485-192dup|||||||rs34093066||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||||||8|chrX:g.2740587dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||9/9|ENST00000381192.10:c.533-192dup|||||||rs34093066||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||8|chrX:g.2740587dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||10/10|ENST00000611428.5:c.*65-192dup|||||||rs34093066||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||8|chrX:g.2740587dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||10/10|ENST00000623253.4:c.*65-192dup|||||||rs34093066||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||8|chrX:g.2740587dup|||||||||||||,T|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||9/9|ENST00000624481.4:c.530-192dup|||||||rs34093066||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||8|chrX:g.2740587dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||8/8|NM_001122898.3:c.485-192dup|||||||rs34093066||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||8|chrX:g.2740587dup|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs34093066|4142|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq|||||||chrX:g.2740587dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||9/9|NM_001321368.2:c.530-192dup|||||||rs34093066||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||8|chrX:g.2740587dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||8/8|NM_001321369.2:c.482-192dup|||||||rs34093066||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||8|chrX:g.2740587dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||8/8|NM_001321370.2:c.482-192dup|||||||rs34093066||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||8|chrX:g.2740587dup|||||||||||||,T|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||9/9|NM_002414.5:c.533-192dup|||||||rs34093066||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||8|chrX:g.2740587dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||10/10|NR_135623.2:n.614-192dup|||||||rs34093066||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||8|chrX:g.2740587dup|||||||||||||;SpliceAI=AT|CD99|0.00|0.00|0.00|0.00|-5|-47|-21|-5;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20404;gnomADv4_1_AC_joint_XX=9697;gnomADv4_1_AC_joint_XY=10707;gnomADv4_1_AF_grpmax_joint=0.170856;gnomADv4_1_AF_joint=0.135431;gnomADv4_1_AF_joint_XX=0.125739;gnomADv4_1_AF_joint_XY=0.145594;gnomADv4_1_AN_grpmax_joint=15118;gnomADv4_1_AN_joint=150660;gnomADv4_1_AN_joint_XX=77120;gnomADv4_1_AN_joint_XY=73540;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1483;gnomADv4_1_nhomalt_joint_XX=664;gnomADv4_1_nhomalt_joint_XY=819;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2740657 chrX_2740657_G_A G A 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=1.013;CADD_Rawscore=-0.014499;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||2/2|ENST00000381177.7:c.*342-122G>A|||||||rs312257||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2740657G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||8/8|ENST00000381187.8:c.485-122G>A|||||||rs312257||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2740657G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||9/9|ENST00000381192.10:c.533-122G>A|||||||rs312257||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2740657G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||10/10|ENST00000611428.5:c.*65-122G>A|||||||rs312257||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2740657G>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||10/10|ENST00000623253.4:c.*65-122G>A|||||||rs312257||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2740657G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||9/9|ENST00000624481.4:c.530-122G>A|||||||rs312257||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2740657G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||8/8|NM_001122898.3:c.485-122G>A|||||||rs312257||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2740657G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs312257|4220|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||G|G||||chrX:g.2740657G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||9/9|NM_001321368.2:c.530-122G>A|||||||rs312257||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2740657G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||8/8|NM_001321369.2:c.482-122G>A|||||||rs312257||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2740657G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||8/8|NM_001321370.2:c.482-122G>A|||||||rs312257||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2740657G>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||9/9|NM_002414.5:c.533-122G>A|||||||rs312257||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2740657G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||10/10|NR_135623.2:n.614-122G>A|||||||rs312257||1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2740657G>A|||||||||||||;SpliceAI=A|CD99|0.02|0.00|0.00|0.00|26|1|26|1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=93775;gnomADv4_1_AC_joint_XX=39381;gnomADv4_1_AC_joint_XY=54394;gnomADv4_1_AF_grpmax_joint=0.161615;gnomADv4_1_AF_joint=0.105669;gnomADv4_1_AF_joint_XX=0.0899825;gnomADv4_1_AF_joint_XY=0.120931;gnomADv4_1_AN_grpmax_joint=46388;gnomADv4_1_AN_joint=887444;gnomADv4_1_AN_joint_XX=437652;gnomADv4_1_AN_joint_XY=449792;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=5584;gnomADv4_1_nhomalt_joint_XX=1972;gnomADv4_1_nhomalt_joint_XY=3612;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2740742 chrX_2740742_C_A C A 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.209;CADD_Rawscore=-0.415715;CSQ=A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||2/2|ENST00000381177.7:c.*342-37C>A|||||||rs312256||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2740742C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||8/8|ENST00000381187.8:c.485-37C>A|||||||rs312256||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2740742C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||9/9|ENST00000381192.10:c.533-37C>A|||||||rs312256||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2740742C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||10/10|ENST00000611428.5:c.*65-37C>A|||||||rs312256||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2740742C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||10/10|ENST00000623253.4:c.*65-37C>A|||||||rs312256||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2740742C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||9/9|ENST00000624481.4:c.530-37C>A|||||||rs312256||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2740742C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||8/8|NM_001122898.3:c.485-37C>A|||||||rs312256||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2740742C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs312256|4305|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2740742C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||9/9|NM_001321368.2:c.530-37C>A|||||||rs312256||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2740742C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||8/8|NM_001321369.2:c.482-37C>A|||||||rs312256||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2740742C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||8/8|NM_001321370.2:c.482-37C>A|||||||rs312256||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2740742C>A|||||||||||||,A|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||9/9|NM_002414.5:c.533-37C>A|||||||rs312256||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2740742C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||10/10|NR_135623.2:n.614-37C>A|||||||rs312256||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2740742C>A|||||||||||||;SpliceAI=A|CD99|0.00|0.00|0.00|0.00|37|-16|-16|42;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=218638;gnomADv4_1_AC_joint_XX=92385;gnomADv4_1_AC_joint_XY=126253;gnomADv4_1_AF_grpmax_joint=0.172771;gnomADv4_1_AF_joint=0.136366;gnomADv4_1_AF_joint_XX=0.114334;gnomADv4_1_AF_joint_XY=0.15875;gnomADv4_1_AN_grpmax_joint=59900;gnomADv4_1_AN_joint=1603322;gnomADv4_1_AN_joint_XX=808028;gnomADv4_1_AN_joint_XY=795294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=16489;gnomADv4_1_nhomalt_joint_XX=5945;gnomADv4_1_nhomalt_joint_XY=10544;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2740759 chrX_2740759_T_C T C 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.732;CADD_Rawscore=-0.097785;CSQ=C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||2/2|ENST00000381177.7:c.*342-20T>C|||||||rs312255||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||T|T||||chrX:g.2740759T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||8/8|ENST00000381187.8:c.485-20T>C|||||||rs312255||1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2740759T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||9/9|ENST00000381192.10:c.533-20T>C|||||||rs312255||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2740759T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||10/10|ENST00000611428.5:c.*65-20T>C|||||||rs312255||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2740759T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||10/10|ENST00000623253.4:c.*65-20T>C|||||||rs312255||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2740759T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||9/9|ENST00000624481.4:c.530-20T>C|||||||rs312255||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2740759T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||8/8|NM_001122898.3:c.485-20T>C|||||||rs312255||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2740759T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs312255|4322|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||T|T||||chrX:g.2740759T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||9/9|NM_001321368.2:c.530-20T>C|||||||rs312255||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2740759T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||8/8|NM_001321369.2:c.482-20T>C|||||||rs312255||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2740759T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||8/8|NM_001321370.2:c.482-20T>C|||||||rs312255||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2740759T>C|||||||||||||,C|intron_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||9/9|NM_002414.5:c.533-20T>C|||||||rs312255||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2740759T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||10/10|NR_135623.2:n.614-20T>C|||||||rs312255||1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2740759T>C|||||||||||||;SpliceAI=C|CD99|0.00|0.00|0.00|0.00|38|25|25|-33;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=220414;gnomADv4_1_AC_joint_XX=92966;gnomADv4_1_AC_joint_XY=127448;gnomADv4_1_AF_grpmax_joint=0.172786;gnomADv4_1_AF_joint=0.136987;gnomADv4_1_AF_joint_XX=0.114708;gnomADv4_1_AF_joint_XY=0.159597;gnomADv4_1_AN_grpmax_joint=59918;gnomADv4_1_AN_joint=1609018;gnomADv4_1_AN_joint_XX=810456;gnomADv4_1_AN_joint_XY=798562;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=16706;gnomADv4_1_nhomalt_joint_XX=5996;gnomADv4_1_nhomalt_joint_XY=10710;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2741118 chrX_2741118_A_AC A AC 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADDIndel_PHREDscore=0.575;CADDIndel_Rawscore=-0.158432;CSQ=C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay|3/3||ENST00000381177.7:c.*688dup||749-750|||||rs201237930||1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||||||7|chrX:g.2741125dup|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs201237930|17|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl|||||||chrX:g.2741125dup|||||||||||||,C|3_prime_UTR_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding|10/10||ENST00000381192.10:c.*321dup||938-939|||||rs201237930||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||||||7|chrX:g.2741125dup|||||||||||||,C|3_prime_UTR_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding|11/11||ENST00000611428.5:c.*411dup||1061-1062|||||rs201237930||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||||||7|chrX:g.2741125dup|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs201237930|314|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2741125dup|||||||||||||,C|3_prime_UTR_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding|10/10||ENST00000624481.4:c.*321dup||917-918|||||rs201237930||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||||||7|chrX:g.2741125dup|||||||||||||,C|3_prime_UTR_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding|9/9||NM_001122898.3:c.*321dup||890-891|||||rs201237930||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||||||7|chrX:g.2741125dup|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs201237930|4681|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq|||||||chrX:g.2741125dup|||||||||||||,C|3_prime_UTR_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding|10/10||NM_001321368.2:c.*321dup||935-936|||||rs201237930||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||||||7|chrX:g.2741125dup|||||||||||||,C|3_prime_UTR_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding|9/9||NM_001321369.2:c.*321dup||887-888|||||rs201237930||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||||||7|chrX:g.2741125dup|||||||||||||,C|3_prime_UTR_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding|9/9||NM_001321370.2:c.*321dup||887-888|||||rs201237930||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||||||7|chrX:g.2741125dup|||||||||||||,C|3_prime_UTR_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding|10/10||NM_002414.5:c.*321dup||938-939|||||rs201237930||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||||||7|chrX:g.2741125dup|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA|11/11||NR_135623.2:n.960dup||953-954|||||rs201237930||1||EntrezGene|HGNC:7082|||||||||RefSeq||||||7|chrX:g.2741125dup|||||||||||||;SpliceAI=AC|CD99|0.00|0.00|0.00|0.00|17|2|-29|-33;TYPE=INDEL;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42392;gnomADv4_1_AC_joint_XX=18525;gnomADv4_1_AC_joint_XY=23867;gnomADv4_1_AF_grpmax_joint=0.163336;gnomADv4_1_AF_joint=0.108773;gnomADv4_1_AF_joint_XX=0.0949649;gnomADv4_1_AF_joint_XY=0.12261;gnomADv4_1_AN_grpmax_joint=48838;gnomADv4_1_AN_joint=389730;gnomADv4_1_AN_joint_XX=195072;gnomADv4_1_AN_joint_XY=194658;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2429;gnomADv4_1_nhomalt_joint_XX=974;gnomADv4_1_nhomalt_joint_XY=1455;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2741191 chrX_2741191_C_T C T 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=0.759;CADD_Rawscore=-0.088565;CSQ=T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs6661|66|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2741191C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs6661|90|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2741191C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding|10/10||ENST00000381192.10:c.*387C>T||1011|||||rs6661||1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2741191C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding|11/11||ENST00000611428.5:c.*477C>T||1134|||||rs6661||1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2741191C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs6661|387|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2741191C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding|10/10||ENST00000624481.4:c.*387C>T||990|||||rs6661||1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2741191C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding|9/9||NM_001122898.3:c.*387C>T||963|||||rs6661||1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2741191C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321367.2|protein_coding||||||||||rs6661|4754|1||EntrezGene|HGNC:7082|||NP_001308296.1||||||RefSeq||C|C||||chrX:g.2741191C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding|10/10||NM_001321368.2:c.*387C>T||1008|||||rs6661||1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2741191C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding|9/9||NM_001321369.2:c.*387C>T||960|||||rs6661||1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2741191C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding|9/9||NM_001321370.2:c.*387C>T||960|||||rs6661||1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2741191C>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding|10/10||NM_002414.5:c.*387C>T||1011|||||rs6661||1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2741191C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA|11/11||NR_135623.2:n.1026C>T||1026|||||rs6661||1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2741191C>T|||||||||||||;SpliceAI=T|CD99|0.00|0.00|0.00|0.00|-5|0|26|21;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321367.2,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10180;gnomADv4_1_AC_joint_XX=5721;gnomADv4_1_AC_joint_XY=4459;gnomADv4_1_AF_grpmax_joint=0.0588714;gnomADv4_1_AF_joint=0.0418672;gnomADv4_1_AF_joint_XX=0.0463261;gnomADv4_1_AF_joint_XY=0.0372652;gnomADv4_1_AN_grpmax_joint=127872;gnomADv4_1_AN_joint=243150;gnomADv4_1_AN_joint_XX=123494;gnomADv4_1_AN_joint_XY=119656;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=267;gnomADv4_1_nhomalt_joint_XX=168;gnomADv4_1_nhomalt_joint_XY=99;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2741910 chrX_2741910_G_C G C 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=2.742;CADD_Rawscore=0.249033;CSQ=C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs311097|785|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2741910G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs311097|809|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2741910G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs311097|601|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2741910G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs311097|610|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2741910G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs311097|1106|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2741910G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs311097|620|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2741910G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs311097|601|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2741910G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs311097|601|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2741910G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs311097|601|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2741910G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs311097|601|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2741910G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs311097|601|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2741910G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs311097|601|1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2741910G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52413;gnomADv4_1_AC_joint_XX=28189;gnomADv4_1_AC_joint_XY=24224;gnomADv4_1_AF_grpmax_joint=0.363302;gnomADv4_1_AF_joint=0.34504;gnomADv4_1_AF_joint_XX=0.362727;gnomADv4_1_AF_joint_XY=0.326513;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=151904;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=74190;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9034;gnomADv4_1_nhomalt_joint_XX=5215;gnomADv4_1_nhomalt_joint_XY=3819;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2741963 chrX_2741963_A_T A T 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=2.172;CADD_Rawscore=0.185864;CSQ=T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs311098|838|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||A|A||||chrX:g.2741963A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs311098|862|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2741963A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs311098|654|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2741963A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs311098|663|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2741963A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs311098|1159|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2741963A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs311098|673|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2741963A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs311098|654|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2741963A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs311098|654|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2741963A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs311098|654|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2741963A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs311098|654|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2741963A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs311098|654|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2741963A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs311098|654|1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2741963A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48750;gnomADv4_1_AC_joint_XX=26712;gnomADv4_1_AC_joint_XY=22038;gnomADv4_1_AF_grpmax_joint=0.361521;gnomADv4_1_AF_joint=0.322297;gnomADv4_1_AF_joint_XX=0.345036;gnomADv4_1_AF_joint_XY=0.298456;gnomADv4_1_AN_grpmax_joint=5156;gnomADv4_1_AN_joint=151258;gnomADv4_1_AN_joint_XX=77418;gnomADv4_1_AN_joint_XY=73840;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7832;gnomADv4_1_nhomalt_joint_XX=4690;gnomADv4_1_nhomalt_joint_XY=3142;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2742019 chrX_2742019_CT_C CT C 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=29;CADDIndel_PHREDscore=0.258;CADDIndel_Rawscore=-0.361076;CSQ=-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs66911350|895|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||T|T||||chrX:g.2742037del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs66911350|919|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2742037del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs66911350|711|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2742037del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs66911350|720|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2742037del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs66911350|1216|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2742037del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs66911350|730|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2742037del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs66911350|711|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2742037del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs66911350|711|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2742037del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs66911350|711|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2742037del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs66911350|711|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2742037del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs66911350|711|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2742037del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs66911350|711|1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2742037del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39919;gnomADv4_1_AC_joint_XX=21821;gnomADv4_1_AC_joint_XY=18098;gnomADv4_1_AF_grpmax_joint=0.395853;gnomADv4_1_AF_joint=0.304939;gnomADv4_1_AF_joint_XX=0.319497;gnomADv4_1_AF_joint_XY=0.289059;gnomADv4_1_AN_grpmax_joint=4340;gnomADv4_1_AN_joint=130908;gnomADv4_1_AN_joint_XX=68298;gnomADv4_1_AN_joint_XY=62610;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3574;gnomADv4_1_nhomalt_joint_XX=2057;gnomADv4_1_nhomalt_joint_XY=1517;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2742164 chrX_2742164_C_T C T 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.121;CADD_Rawscore=-0.561296;CSQ=T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs34757250|1039|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2742164C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs34757250|1063|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2742164C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs34757250|855|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2742164C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs34757250|864|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2742164C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs34757250|1360|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2742164C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs34757250|874|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2742164C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs34757250|855|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2742164C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs34757250|855|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2742164C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs34757250|855|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2742164C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs34757250|855|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2742164C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs34757250|855|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2742164C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs34757250|855|1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2742164C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7660;gnomADv4_1_AC_joint_XX=4394;gnomADv4_1_AC_joint_XY=3266;gnomADv4_1_AF_grpmax_joint=0.0782584;gnomADv4_1_AF_joint=0.0504704;gnomADv4_1_AF_joint_XX=0.0566179;gnomADv4_1_AF_joint_XY=0.0440375;gnomADv4_1_AN_grpmax_joint=67916;gnomADv4_1_AN_joint=151772;gnomADv4_1_AN_joint_XX=77608;gnomADv4_1_AN_joint_XY=74164;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=251;gnomADv4_1_nhomalt_joint_XX=174;gnomADv4_1_nhomalt_joint_XY=77;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2742607 chrX_2742607_G_A G A 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=30;CADD_PHREDscore=0.124;CADD_Rawscore=-0.553618;CSQ=A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs311099|1482|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2742607G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs311099|1506|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2742607G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs311099|1298|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2742607G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs311099|1307|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2742607G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs311099|1803|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2742607G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs311099|1317|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2742607G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs311099|1298|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2742607G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs311099|1298|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2742607G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs311099|1298|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2742607G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs311099|1298|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2742607G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs311099|1298|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2742607G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs311099|1298|1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2742607G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57641;gnomADv4_1_AC_joint_XX=31492;gnomADv4_1_AC_joint_XY=26149;gnomADv4_1_AF_grpmax_joint=0.527494;gnomADv4_1_AF_joint=0.418653;gnomADv4_1_AF_joint_XX=0.437815;gnomADv4_1_AF_joint_XY=0.397691;gnomADv4_1_AN_grpmax_joint=4510;gnomADv4_1_AN_joint=137682;gnomADv4_1_AN_joint_XX=71930;gnomADv4_1_AN_joint_XY=65752;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11568;gnomADv4_1_nhomalt_joint_XX=6727;gnomADv4_1_nhomalt_joint_XY=4841;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2742640 chrX_2742640_CTTTTT_C;chrX_2742640_C_CTTTT CTTTTT C 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=18;CADDIndel_PHREDscore=0.315;CADDIndel_Rawscore=-0.309213;CSQ=-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs1158289378|1516|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||TTTTT|TTTTT||||chrX:g.2742667_2742671del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs1158289378|1540|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||TTTTT|TTTTT||||chrX:g.2742667_2742671del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs1158289378|1332|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||TTTTT|TTTTT||||chrX:g.2742667_2742671del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs1158289378|1341|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||TTTTT|TTTTT||||chrX:g.2742667_2742671del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs1158289378|1837|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||TTTTT|TTTTT||||chrX:g.2742667_2742671del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs1158289378|1351|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||TTTTT|TTTTT||||chrX:g.2742667_2742671del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs1158289378|1332|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||TTTTT|TTTTT||||chrX:g.2742667_2742671del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs1158289378|1332|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||TTTTT|TTTTT||||chrX:g.2742667_2742671del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs1158289378|1332|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||TTTTT|TTTTT||||chrX:g.2742667_2742671del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs1158289378|1332|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||TTTTT|TTTTT||||chrX:g.2742667_2742671del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs1158289378|1332|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||TTTTT|TTTTT||||chrX:g.2742667_2742671del|||||||||||||,-|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs1158289378|1332|1||EntrezGene|HGNC:7082|||||||||RefSeq||TTTTT|TTTTT||||chrX:g.2742667_2742671del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5354;gnomADv4_1_AC_joint_XX=2681;gnomADv4_1_AC_joint_XY=2673;gnomADv4_1_AF_grpmax_joint=0.134292;gnomADv4_1_AF_joint=0.0953823;gnomADv4_1_AF_joint_XX=0.0841864;gnomADv4_1_AF_joint_XY=0.110063;gnomADv4_1_AN_grpmax_joint=3686;gnomADv4_1_AN_joint=56132;gnomADv4_1_AN_joint_XX=31846;gnomADv4_1_AN_joint_XY=24286;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=63;gnomADv4_1_nhomalt_joint_XX=23;gnomADv4_1_nhomalt_joint_XY=40;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2742640 chrX_2742640_CTTTTT_C;chrX_2742640_C_CTTTT C CTTTT 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=13;CADDIndel_PHREDscore=0.292;CADDIndel_Rawscore=-0.328742;CSQ=TTTT|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs1158289378|1515|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl|||||||chrX:g.2742668_2742671dup|||||||||||||,TTTT|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs1158289378|1539|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl|||||||chrX:g.2742668_2742671dup|||||||||||||,TTTT|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs1158289378|1331|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl|||||||chrX:g.2742668_2742671dup|||||||||||||,TTTT|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs1158289378|1340|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2742668_2742671dup|||||||||||||,TTTT|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs1158289378|1836|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2742668_2742671dup|||||||||||||,TTTT|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs1158289378|1350|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl|||||||chrX:g.2742668_2742671dup|||||||||||||,TTTT|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs1158289378|1331|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq|||||||chrX:g.2742668_2742671dup|||||||||||||,TTTT|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs1158289378|1331|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq|||||||chrX:g.2742668_2742671dup|||||||||||||,TTTT|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs1158289378|1331|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq|||||||chrX:g.2742668_2742671dup|||||||||||||,TTTT|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs1158289378|1331|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq|||||||chrX:g.2742668_2742671dup|||||||||||||,TTTT|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs1158289378|1331|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq|||||||chrX:g.2742668_2742671dup|||||||||||||,TTTT|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs1158289378|1331|1||EntrezGene|HGNC:7082|||||||||RefSeq|||||||chrX:g.2742668_2742671dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT,TTTT;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1074;gnomADv4_1_AC_joint_XX=718;gnomADv4_1_AC_joint_XY=356;gnomADv4_1_AF_grpmax_joint=0.0294508;gnomADv4_1_AF_joint=0.0190237;gnomADv4_1_AF_joint_XX=0.0224656;gnomADv4_1_AF_joint_XY=0.014533;gnomADv4_1_AN_grpmax_joint=31680;gnomADv4_1_AN_joint=56456;gnomADv4_1_AN_joint_XX=31960;gnomADv4_1_AN_joint_XY=24496;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9;gnomADv4_1_nhomalt_joint_XX=5;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2742778 chrX_2742778_A_G A G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.693;CADD_Rawscore=0.244117;CSQ=G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs312250|1653|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||A|A||||chrX:g.2742778A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs312250|1677|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2742778A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs312250|1469|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2742778A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs312250|1478|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2742778A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs312250|1974|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2742778A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs312250|1488|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2742778A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs312250|1469|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2742778A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs312250|1469|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2742778A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs312250|1469|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2742778A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs312250|1469|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2742778A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs312250|1469|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2742778A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs312250|1469|1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2742778A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17030;gnomADv4_1_AC_joint_XX=7626;gnomADv4_1_AC_joint_XY=9404;gnomADv4_1_AF_grpmax_joint=0.161124;gnomADv4_1_AF_joint=0.112461;gnomADv4_1_AF_joint_XX=0.0984229;gnomADv4_1_AF_joint_XY=0.12717;gnomADv4_1_AN_grpmax_joint=15156;gnomADv4_1_AN_joint=151430;gnomADv4_1_AN_joint_XX=77482;gnomADv4_1_AN_joint_XY=73948;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1062;gnomADv4_1_nhomalt_joint_XX=402;gnomADv4_1_nhomalt_joint_XY=660;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2743651 chrX_2743651_T_G T G 31 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=0.869;CADD_Rawscore=-0.054085;CSQ=G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs311101|2526|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||T|T||||chrX:g.2743651T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs311101|2550|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2743651T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs311101|2342|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2743651T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs311101|2351|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2743651T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs311101|2847|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2743651T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs311101|2361|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2743651T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs311101|2342|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2743651T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs311101|2342|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2743651T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs311101|2342|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2743651T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs311101|2342|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2743651T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs311101|2342|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2743651T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs311101|2342|1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2743651T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53271;gnomADv4_1_AC_joint_XX=28686;gnomADv4_1_AC_joint_XY=24585;gnomADv4_1_AF_grpmax_joint=0.396031;gnomADv4_1_AF_joint=0.350726;gnomADv4_1_AF_joint_XX=0.369408;gnomADv4_1_AF_joint_XY=0.331182;gnomADv4_1_AN_grpmax_joint=41416;gnomADv4_1_AN_joint=151888;gnomADv4_1_AN_joint_XX=77654;gnomADv4_1_AN_joint_XY=74234;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9379;gnomADv4_1_nhomalt_joint_XX=5384;gnomADv4_1_nhomalt_joint_XY=3995;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2743811 chrX_2743811_A_G A G 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.173;CADD_Rawscore=-0.465756;CSQ=G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs311102|2686|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||A|A||||chrX:g.2743811A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs311102|2710|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2743811A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs311102|2502|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2743811A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs311102|2511|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2743811A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs311102|3007|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2743811A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs311102|2521|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2743811A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs311102|2502|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2743811A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs311102|2502|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2743811A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs311102|2502|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2743811A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs311102|2502|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2743811A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs311102|2502|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2743811A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs311102|2502|1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2743811A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=51266;gnomADv4_1_AC_joint_XX=27433;gnomADv4_1_AC_joint_XY=23833;gnomADv4_1_AF_grpmax_joint=0.380426;gnomADv4_1_AF_joint=0.337356;gnomADv4_1_AF_joint_XX=0.353154;gnomADv4_1_AF_joint_XY=0.320836;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151964;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=8639;gnomADv4_1_nhomalt_joint_XX=4952;gnomADv4_1_nhomalt_joint_XY=3687;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2743815 chrX_2743815_A_G A G 51 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.179;CADD_Rawscore=0.024917;CSQ=G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs66909316|2690|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||A|A||||chrX:g.2743815A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs66909316|2714|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2743815A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs66909316|2506|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2743815A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs66909316|2515|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2743815A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs66909316|3011|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2743815A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs66909316|2525|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2743815A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs66909316|2506|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2743815A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs66909316|2506|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2743815A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs66909316|2506|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2743815A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs66909316|2506|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2743815A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs66909316|2506|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2743815A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs66909316|2506|1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2743815A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7716;gnomADv4_1_AC_joint_XX=4424;gnomADv4_1_AC_joint_XY=3292;gnomADv4_1_AF_grpmax_joint=0.0783754;gnomADv4_1_AF_joint=0.0506725;gnomADv4_1_AF_joint_XX=0.0568506;gnomADv4_1_AF_joint_XY=0.0442152;gnomADv4_1_AN_grpmax_joint=68006;gnomADv4_1_AN_joint=152272;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=74454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=252;gnomADv4_1_nhomalt_joint_XX=177;gnomADv4_1_nhomalt_joint_XY=75;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2743837 chrX_2743837_C_T C T 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.488;CADD_Rawscore=-0.199238;CSQ=T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs67274880|2712|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2743837C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs67274880|2736|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2743837C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs67274880|2528|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2743837C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs67274880|2537|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2743837C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs67274880|3033|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2743837C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs67274880|2547|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2743837C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs67274880|2528|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2743837C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs67274880|2528|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2743837C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs67274880|2528|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2743837C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs67274880|2528|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2743837C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs67274880|2528|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2743837C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs67274880|2528|1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2743837C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7458;gnomADv4_1_AC_joint_XX=4263;gnomADv4_1_AC_joint_XY=3195;gnomADv4_1_AF_grpmax_joint=0.0783345;gnomADv4_1_AF_joint=0.0489743;gnomADv4_1_AF_joint_XX=0.0547803;gnomADv4_1_AF_joint_XY=0.0429066;gnomADv4_1_AN_grpmax_joint=68016;gnomADv4_1_AN_joint=152284;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=74464;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=250;gnomADv4_1_nhomalt_joint_XX=174;gnomADv4_1_nhomalt_joint_XY=76;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2744076 chrX_2744076_A_G A G 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=2.139;CADD_Rawscore=0.181765;CSQ=G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs35325158|2951|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||A|A||||chrX:g.2744076A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs35325158|2975|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||A|A||||chrX:g.2744076A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs35325158|2767|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||A|A||||chrX:g.2744076A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs35325158|2776|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2744076A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs35325158|3272|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||A|A||||chrX:g.2744076A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs35325158|2786|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||A|A||||chrX:g.2744076A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs35325158|2767|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||A|A||||chrX:g.2744076A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs35325158|2767|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||A|A||||chrX:g.2744076A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs35325158|2767|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||A|A||||chrX:g.2744076A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs35325158|2767|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||A|A||||chrX:g.2744076A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs35325158|2767|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||A|A||||chrX:g.2744076A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs35325158|2767|1||EntrezGene|HGNC:7082|||||||||RefSeq||A|A||||chrX:g.2744076A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7673;gnomADv4_1_AC_joint_XX=4395;gnomADv4_1_AC_joint_XY=3278;gnomADv4_1_AF_grpmax_joint=0.0785132;gnomADv4_1_AF_joint=0.0503874;gnomADv4_1_AF_joint_XX=0.0564649;gnomADv4_1_AF_joint_XY=0.0440331;gnomADv4_1_AN_grpmax_joint=68014;gnomADv4_1_AN_joint=152280;gnomADv4_1_AN_joint_XX=77836;gnomADv4_1_AN_joint_XY=74444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=255;gnomADv4_1_nhomalt_joint_XX=177;gnomADv4_1_nhomalt_joint_XY=78;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2744852 chrX_2744852_G_A G A 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.028;CADD_Rawscore=-0.963695;CSQ=A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs312246|3727|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2744852G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs312246|3751|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2744852G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs312246|3543|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2744852G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs312246|3552|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2744852G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs312246|4048|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2744852G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs312246|3562|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2744852G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs312246|3543|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2744852G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs312246|3543|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2744852G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs312246|3543|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2744852G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs312246|3543|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2744852G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs312246|3543|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2744852G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs312246|3543|1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2744852G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49723;gnomADv4_1_AC_joint_XX=25041;gnomADv4_1_AC_joint_XY=24682;gnomADv4_1_AF_grpmax_joint=0.451337;gnomADv4_1_AF_joint=0.328053;gnomADv4_1_AF_joint_XX=0.322818;gnomADv4_1_AF_joint_XY=0.333541;gnomADv4_1_AN_grpmax_joint=4788;gnomADv4_1_AN_joint=151570;gnomADv4_1_AN_joint_XX=77570;gnomADv4_1_AN_joint_XY=74000;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=8704;gnomADv4_1_nhomalt_joint_XX=4334;gnomADv4_1_nhomalt_joint_XY=4370;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2744988 chrX_2744988_T_TA T TA 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=35;CADDIndel_PHREDscore=0.708;CADDIndel_Rawscore=-0.106036;CSQ=A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs528723330|3863|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl|||||||chrX:g.2745005dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs528723330|3887|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl|||||||chrX:g.2745005dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs528723330|3679|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl|||||||chrX:g.2745005dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs528723330|3688|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2745005dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs528723330|4184|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2745005dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs528723330|3698|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl|||||||chrX:g.2745005dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs528723330|3679|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq|||||||chrX:g.2745005dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs528723330|3679|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq|||||||chrX:g.2745005dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs528723330|3679|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq|||||||chrX:g.2745005dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs528723330|3679|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq|||||||chrX:g.2745005dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs528723330|3679|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq|||||||chrX:g.2745005dup|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs528723330|3679|1||EntrezGene|HGNC:7082|||||||||RefSeq|||||||chrX:g.2745005dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35361;gnomADv4_1_AC_joint_XX=17920;gnomADv4_1_AC_joint_XY=17441;gnomADv4_1_AF_grpmax_joint=0.292762;gnomADv4_1_AF_joint=0.269643;gnomADv4_1_AF_joint_XX=0.261789;gnomADv4_1_AF_joint_XY=0.278219;gnomADv4_1_AN_grpmax_joint=12710;gnomADv4_1_AN_joint=131140;gnomADv4_1_AN_joint_XX=68452;gnomADv4_1_AN_joint_XY=62688;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4555;gnomADv4_1_nhomalt_joint_XX=2272;gnomADv4_1_nhomalt_joint_XY=2283;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2745392 chrX_2745392_C_T C T 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=23;CADD_PHREDscore=0.593;CADD_Rawscore=-0.150446;CSQ=T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs312245|4267|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||C|C||||chrX:g.2745392C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs312245|4291|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||C|C||||chrX:g.2745392C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs312245|4083|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||C|C||||chrX:g.2745392C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs312245|4092|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2745392C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs312245|4588|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||C|C||||chrX:g.2745392C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs312245|4102|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||C|C||||chrX:g.2745392C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs312245|4083|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||C|C||||chrX:g.2745392C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs312245|4083|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||C|C||||chrX:g.2745392C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs312245|4083|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||C|C||||chrX:g.2745392C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs312245|4083|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||C|C||||chrX:g.2745392C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs312245|4083|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||C|C||||chrX:g.2745392C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs312245|4083|1||EntrezGene|HGNC:7082|||||||||RefSeq||C|C||||chrX:g.2745392C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18964;gnomADv4_1_AC_joint_XX=8788;gnomADv4_1_AC_joint_XY=10176;gnomADv4_1_AF_grpmax_joint=0.169019;gnomADv4_1_AF_joint=0.126496;gnomADv4_1_AF_joint_XX=0.114552;gnomADv4_1_AF_joint_XY=0.139013;gnomADv4_1_AN_grpmax_joint=15022;gnomADv4_1_AN_joint=149918;gnomADv4_1_AN_joint_XX=76716;gnomADv4_1_AN_joint_XY=73202;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1295;gnomADv4_1_nhomalt_joint_XX=545;gnomADv4_1_nhomalt_joint_XY=750;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2745435 chrX_2745435_C_CTGTGTGTGTGTGTGTGTGTGTGTGTG;chrX_2745435_C_CTGTGTGTGTGTGTGTGTG;chrX_2745435_C_CTGTGTGTGTGTGTGTGTGTGTG C CTGTGTGTGTGTGTGTGTGTGTGTGTG 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=41;CADDIndel_PHREDscore=0.323;CADDIndel_Rawscore=-0.303376;CSQ=TGTGTGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs770898451|4310|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl|||||||chrX:g.2745460_2745461insGTGTGTGTGTGTGTGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs770898451|4334|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl|||||||chrX:g.2745460_2745461insGTGTGTGTGTGTGTGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs770898451|4126|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl|||||||chrX:g.2745460_2745461insGTGTGTGTGTGTGTGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs770898451|4135|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2745460_2745461insGTGTGTGTGTGTGTGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs770898451|4631|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2745460_2745461insGTGTGTGTGTGTGTGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs770898451|4145|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl|||||||chrX:g.2745460_2745461insGTGTGTGTGTGTGTGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq|||||||chrX:g.2745460_2745461insGTGTGTGTGTGTGTGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq|||||||chrX:g.2745460_2745461insGTGTGTGTGTGTGTGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq|||||||chrX:g.2745460_2745461insGTGTGTGTGTGTGTGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq|||||||chrX:g.2745460_2745461insGTGTGTGTGTGTGTGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq|||||||chrX:g.2745460_2745461insGTGTGTGTGTGTGTGTGTGTGTGTGT|||||||||||||,TGTGTGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||||||||RefSeq|||||||chrX:g.2745460_2745461insGTGTGTGTGTGTGTGTGTGTGTGTGT|||||||||||||;TYPE=INDEL;VEP_Allele=TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2290;gnomADv4_1_AC_joint_XX=1192;gnomADv4_1_AC_joint_XY=1098;gnomADv4_1_AF_grpmax_joint=0.0402642;gnomADv4_1_AF_joint=0.0158605;gnomADv4_1_AF_joint_XX=0.0160362;gnomADv4_1_AF_joint_XY=0.0156741;gnomADv4_1_AN_grpmax_joint=38148;gnomADv4_1_AN_joint=144384;gnomADv4_1_AN_joint_XX=74332;gnomADv4_1_AN_joint_XY=70052;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=48;gnomADv4_1_nhomalt_joint_XX=27;gnomADv4_1_nhomalt_joint_XY=21;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2745435 chrX_2745435_C_CTGTGTGTGTGTGTGTGTGTGTGTGTG;chrX_2745435_C_CTGTGTGTGTGTGTGTGTG;chrX_2745435_C_CTGTGTGTGTGTGTGTGTGTGTG C CTGTGTGTGTGTGTGTGTG 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=36;CADDIndel_PHREDscore=0.387;CADDIndel_Rawscore=-0.257145;CSQ=TGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs770898451|4310|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl|||||||chrX:g.2745443_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs770898451|4334|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl|||||||chrX:g.2745443_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs770898451|4126|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl|||||||chrX:g.2745443_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs770898451|4135|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2745443_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs770898451|4631|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2745443_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs770898451|4145|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl|||||||chrX:g.2745443_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq|||||||chrX:g.2745443_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq|||||||chrX:g.2745443_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq|||||||chrX:g.2745443_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq|||||||chrX:g.2745443_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq|||||||chrX:g.2745443_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||||||||RefSeq|||||||chrX:g.2745443_2745460dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17312;gnomADv4_1_AC_joint_XX=9070;gnomADv4_1_AC_joint_XY=8242;gnomADv4_1_AF_grpmax_joint=0.229167;gnomADv4_1_AF_joint=0.120017;gnomADv4_1_AF_joint_XX=0.122102;gnomADv4_1_AF_joint_XY=0.117803;gnomADv4_1_AN_grpmax_joint=4464;gnomADv4_1_AN_joint=144246;gnomADv4_1_AN_joint_XX=74282;gnomADv4_1_AN_joint_XY=69964;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1181;gnomADv4_1_nhomalt_joint_XX=586;gnomADv4_1_nhomalt_joint_XY=595;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2745435 chrX_2745435_C_CTGTGTGTGTGTGTGTGTGTGTGTGTG;chrX_2745435_C_CTGTGTGTGTGTGTGTGTG;chrX_2745435_C_CTGTGTGTGTGTGTGTGTGTGTG C CTGTGTGTGTGTGTGTGTGTGTG 41 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=15;CADDIndel_PHREDscore=0.354;CADDIndel_Rawscore=-0.28015;CSQ=TGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs770898451|4310|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl|||||||chrX:g.2745439_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs770898451|4334|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl|||||||chrX:g.2745439_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs770898451|4126|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl|||||||chrX:g.2745439_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs770898451|4135|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2745439_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs770898451|4631|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl|||||||chrX:g.2745439_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs770898451|4145|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl|||||||chrX:g.2745439_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq|||||||chrX:g.2745439_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq|||||||chrX:g.2745439_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq|||||||chrX:g.2745439_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq|||||||chrX:g.2745439_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq|||||||chrX:g.2745439_2745460dup|||||||||||||,TGTGTGTGTGTGTGTGTGTGTG|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs770898451|4126|1||EntrezGene|HGNC:7082|||||||||RefSeq|||||||chrX:g.2745439_2745460dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21704;gnomADv4_1_AC_joint_XX=10332;gnomADv4_1_AC_joint_XY=11372;gnomADv4_1_AF_grpmax_joint=0.264295;gnomADv4_1_AF_joint=0.150756;gnomADv4_1_AF_joint_XX=0.139328;gnomADv4_1_AF_joint_XY=0.162895;gnomADv4_1_AN_grpmax_joint=4862;gnomADv4_1_AN_joint=143968;gnomADv4_1_AN_joint_XX=74156;gnomADv4_1_AN_joint_XY=69812;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1844;gnomADv4_1_nhomalt_joint_XX=807;gnomADv4_1_nhomalt_joint_XY=1037;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2745495 chrX_2745495_T_A T A 52 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.163;CADD_Rawscore=0.021445;CSQ=A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs312244|4370|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||T|T||||chrX:g.2745495T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs312244|4394|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||T|T||||chrX:g.2745495T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs312244|4186|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||T|T||||chrX:g.2745495T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs312244|4195|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2745495T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000623253|nonsense_mediated_decay||||||||||rs312244|4691|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000485545|P14209.206||UPI000002ADF5|P14209-2||Ensembl||T|T||||chrX:g.2745495T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs312244|4205|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||T|T||||chrX:g.2745495T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs312244|4186|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||T|T||||chrX:g.2745495T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs312244|4186|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||T|T||||chrX:g.2745495T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs312244|4186|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||T|T||||chrX:g.2745495T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs312244|4186|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||T|T||||chrX:g.2745495T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs312244|4186|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||T|T||||chrX:g.2745495T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs312244|4186|1||EntrezGene|HGNC:7082|||||||||RefSeq||T|T||||chrX:g.2745495T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000623253,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64447;gnomADv4_1_AC_joint_XX=32918;gnomADv4_1_AC_joint_XY=31529;gnomADv4_1_AF_grpmax_joint=0.637114;gnomADv4_1_AF_joint=0.429355;gnomADv4_1_AF_joint_XX=0.428285;gnomADv4_1_AF_joint_XY=0.430477;gnomADv4_1_AN_grpmax_joint=40594;gnomADv4_1_AN_joint=150102;gnomADv4_1_AN_joint_XX=76860;gnomADv4_1_AN_joint_XY=73242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=15350;gnomADv4_1_nhomalt_joint_XX=8066;gnomADv4_1_nhomalt_joint_XY=7284;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2745927 chrX_2745927_G_A G A 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.578;CADD_Rawscore=-0.156984;CSQ=A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381177|nonsense_mediated_decay||||||||||rs5982844|4802|1|cds_start_NF|HGNC|HGNC:7082|2||ENSP00000370570||A6NGF6.67|UPI000D196C2B|||Ensembl||G|G||||chrX:g.2745927G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381187|protein_coding||||||||||rs5982844|4826|1||HGNC|HGNC:7082|2|CCDS48071.1|ENSP00000370582|P14209.206||UPI000059DAAD|P14209-3||Ensembl||G|G||||chrX:g.2745927G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000381192|protein_coding||||||||||rs5982844|4618|1||HGNC|HGNC:7082|1|CCDS14119.1|ENSP00000370588|P14209.206||UPI0000000C42|P14209-1||Ensembl||G|G||||chrX:g.2745927G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000611428|protein_coding||||||||||rs5982844|4627|1||HGNC|HGNC:7082|1|CCDS75947.1|ENSP00000479999|P14209.206||UPI000002ADF5|P14209-2||Ensembl||G|G||||chrX:g.2745927G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|ENSG00000002586|Transcript|ENST00000624481|protein_coding||||||||||rs5982844|4637|1||HGNC|HGNC:7082|2|CCDS83452.1|ENSP00000485427||A0A096LP69.58|UPI0000211BD1|||Ensembl||G|G||||chrX:g.2745927G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001122898.3|protein_coding||||||||||rs5982844|4618|1||EntrezGene|HGNC:7082|||NP_001116370.1||||||RefSeq||G|G||||chrX:g.2745927G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321368.2|protein_coding||||||||||rs5982844|4618|1||EntrezGene|HGNC:7082|||NP_001308297.1||||||RefSeq||G|G||||chrX:g.2745927G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321369.2|protein_coding||||||||||rs5982844|4618|1||EntrezGene|HGNC:7082|||NP_001308298.1||||||RefSeq||G|G||||chrX:g.2745927G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_001321370.2|protein_coding||||||||||rs5982844|4618|1||EntrezGene|HGNC:7082|||NP_001308299.1||||||RefSeq||G|G||||chrX:g.2745927G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NM_002414.5|protein_coding||||||||||rs5982844|4618|1||EntrezGene|HGNC:7082|||NP_002405.1||||||RefSeq||G|G||||chrX:g.2745927G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|CD99|4267|Transcript|NR_135623.2|misc_RNA||||||||||rs5982844|4618|1||EntrezGene|HGNC:7082|||||||||RefSeq||G|G||||chrX:g.2745927G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381177,ENST00000381187,ENST00000381192,ENST00000611428,ENST00000624481,NM_001122898.3,NM_001321368.2,NM_001321369.2,NM_001321370.2,NM_002414.5,NR_135623.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,ENSG00000002586,4267,4267,4267,4267,4267,4267;VEP_SYMBOL=CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99,CD99;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21164;gnomADv4_1_AC_joint_XX=11354;gnomADv4_1_AC_joint_XY=9810;gnomADv4_1_AF_grpmax_joint=0.255102;gnomADv4_1_AF_joint=0.139143;gnomADv4_1_AF_joint_XX=0.145987;gnomADv4_1_AF_joint_XY=0.131983;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152102;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=74328;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1560;gnomADv4_1_nhomalt_joint_XX=903;gnomADv4_1_nhomalt_joint_XY=657;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2747076 chrX_2747076_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.734;CADD_Rawscore=-0.097093;CSQ=A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs28692927|4976|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2747076G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs28692927|4972|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2747076G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs28692927|4972|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2747076G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs28692927|4964|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2747076G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs28692927|4964|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2747076G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs28692927|4964|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2747076G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs28692927|4964|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2747076G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs28692927|4964|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2747076G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs28692927|4964|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2747076G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs28692927|4964|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2747076G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13770;gnomADv4_1_AC_joint_XX=7184;gnomADv4_1_AC_joint_XY=6586;gnomADv4_1_AF_grpmax_joint=0.187075;gnomADv4_1_AF_joint=0.0905516;gnomADv4_1_AF_joint_XX=0.0923845;gnomADv4_1_AF_joint_XY=0.0886335;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77762;gnomADv4_1_AN_joint_XY=74306;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=803;gnomADv4_1_nhomalt_joint_XX=474;gnomADv4_1_nhomalt_joint_XY=329;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2747834 chrX_2747834_C_T C T 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=2.773;CADD_Rawscore=0.252227;CSQ=T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs55959831|4218|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2747834C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs55959831|4214|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2747834C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs55959831|4462|1||HGNC|HGNC:12806|1||||||||Ensembl||C|C||||chrX:g.2747834C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs55959831|4214|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2747834C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs55959831|4206|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2747834C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs55959831|4206|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2747834C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs55959831|4206|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2747834C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs55959831|4206|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2747834C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs55959831|4206|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2747834C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs55959831|4206|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2747834C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs55959831|4206|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2747834C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8215;gnomADv4_1_AC_joint_XX=4665;gnomADv4_1_AC_joint_XY=3550;gnomADv4_1_AF_grpmax_joint=0.0832059;gnomADv4_1_AF_joint=0.0539757;gnomADv4_1_AF_joint_XX=0.0599738;gnomADv4_1_AF_joint_XY=0.0477061;gnomADv4_1_AN_grpmax_joint=67988;gnomADv4_1_AN_joint=152198;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=283;gnomADv4_1_nhomalt_joint_XX=195;gnomADv4_1_nhomalt_joint_XY=88;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2747891 chrX_2747891_G_A G A 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=3.474;CADD_Rawscore=0.318363;CSQ=A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs56014708|4161|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2747891G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs56014708|4157|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2747891G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs56014708|4405|1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2747891G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs56014708|4157|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2747891G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs56014708|4149|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2747891G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs56014708|4149|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2747891G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs56014708|4149|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2747891G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs56014708|4149|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2747891G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs56014708|4149|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2747891G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs56014708|4149|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2747891G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs56014708|4149|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2747891G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8212;gnomADv4_1_AC_joint_XX=4664;gnomADv4_1_AC_joint_XY=3548;gnomADv4_1_AF_grpmax_joint=0.0831789;gnomADv4_1_AF_joint=0.0539801;gnomADv4_1_AF_joint_XX=0.0599856;gnomADv4_1_AF_joint_XY=0.0477023;gnomADv4_1_AN_grpmax_joint=67986;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=283;gnomADv4_1_nhomalt_joint_XX=195;gnomADv4_1_nhomalt_joint_XY=88;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2748036 chrX_2748036_C_T C T 31 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=31;CADD_PHREDscore=0.219;CADD_Rawscore=-0.40314;CSQ=T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs190178388|4016|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2748036C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs190178388|4012|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2748036C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs190178388|4260|1||HGNC|HGNC:12806|1||||||||Ensembl||C|C||||chrX:g.2748036C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs190178388|4012|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2748036C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs190178388|4004|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2748036C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs190178388|4004|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2748036C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs190178388|4004|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2748036C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs190178388|4004|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2748036C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs190178388|4004|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2748036C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs190178388|4004|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2748036C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs190178388|4004|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2748036C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=474;gnomADv4_1_AC_joint_XX=159;gnomADv4_1_AC_joint_XY=315;gnomADv4_1_AF_grpmax_joint=0.0306122;gnomADv4_1_AF_joint=0.00311494;gnomADv4_1_AF_joint_XX=0.00204396;gnomADv4_1_AF_joint_XY=0.00423501;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152170;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=74380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=4;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=4;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2748343 chrX_2748343_G_C G C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=4.214;CADD_Rawscore=0.384257;CSQ=C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs311103|3709|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2748343G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs311103|3705|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2748343G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs311103|3953|1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2748343G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs311103|3705|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2748343G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs311103|3697|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2748343G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs311103|3697|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2748343G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs311103|3697|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2748343G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs311103|3697|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2748343G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs311103|3697|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2748343G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs311103|3697|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2748343G>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs311103|3697|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2748343G>C|||1||||||||||;ClinVar_CLNDN=XG_BLOOD_GROUP_SYSTEM&_Xg(a-)_PHENOTYPE;ClinVar_CLNHGVS=NC_000023.11:g.2748343G>C;ClinVar_CLNSIG=Pathogenic;ClinVar_Variation_ID=2627030;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53870;gnomADv4_1_AC_joint_XX=28105;gnomADv4_1_AC_joint_XY=25765;gnomADv4_1_AF_grpmax_joint=0.445091;gnomADv4_1_AF_joint=0.354497;gnomADv4_1_AF_joint_XX=0.3616;gnomADv4_1_AF_joint_XY=0.347059;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151962;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74238;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9755;gnomADv4_1_nhomalt_joint_XX=5208;gnomADv4_1_nhomalt_joint_XY=4547;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2748580 chrX_2748580_CT_C CT C 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADDIndel_PHREDscore=0.071;CADDIndel_Rawscore=-0.705875;CSQ=-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs753536465|3471|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2748594del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs753536465|3467|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2748594del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs753536465|3715|1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2748594del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs753536465|3467|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2748594del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs753536465|3459|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2748594del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs753536465|3459|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2748594del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs753536465|3459|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2748594del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs753536465|3459|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2748594del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs753536465|3459|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2748594del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs753536465|3459|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2748594del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs753536465|3459|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2748594del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8758;gnomADv4_1_AC_joint_XX=4957;gnomADv4_1_AC_joint_XY=3801;gnomADv4_1_AF_grpmax_joint=0.0885103;gnomADv4_1_AF_joint=0.0608829;gnomADv4_1_AF_joint_XX=0.0668907;gnomADv4_1_AF_joint_XY=0.0544993;gnomADv4_1_AN_grpmax_joint=65450;gnomADv4_1_AN_joint=143850;gnomADv4_1_AN_joint_XX=74106;gnomADv4_1_AN_joint_XY=69744;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=253;gnomADv4_1_nhomalt_joint_XX=167;gnomADv4_1_nhomalt_joint_XY=86;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2748650 chrX_2748650_C_T C T 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.503;CADD_Rawscore=0.088685;CSQ=T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs564521777|3402|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2748650C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs564521777|3398|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2748650C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs564521777|3646|1||HGNC|HGNC:12806|1||||||||Ensembl||C|C||||chrX:g.2748650C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs564521777|3398|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2748650C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs564521777|3390|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2748650C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs564521777|3390|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2748650C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs564521777|3390|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2748650C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs564521777|3390|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2748650C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs564521777|3390|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2748650C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs564521777|3390|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2748650C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs564521777|3390|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2748650C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=537;gnomADv4_1_AC_joint_XX=202;gnomADv4_1_AC_joint_XY=335;gnomADv4_1_AF_grpmax_joint=0.0308219;gnomADv4_1_AF_joint=0.00354156;gnomADv4_1_AF_joint_XX=0.00260269;gnomADv4_1_AF_joint_XY=0.00452605;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151628;gnomADv4_1_AN_joint_XX=77612;gnomADv4_1_AN_joint_XY=74016;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=5;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2748687 chrX_2748687_C_G C G 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.696;CADD_Rawscore=0.120413;CSQ=G|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs28448631|3365|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2748687C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs28448631|3361|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2748687C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs28448631|3609|1||HGNC|HGNC:12806|1||||||||Ensembl||C|C||||chrX:g.2748687C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs28448631|3361|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2748687C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs28448631|3353|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2748687C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs28448631|3353|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2748687C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs28448631|3353|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2748687C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs28448631|3353|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2748687C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs28448631|3353|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2748687C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs28448631|3353|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2748687C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs28448631|3353|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2748687C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13259;gnomADv4_1_AC_joint_XX=6820;gnomADv4_1_AC_joint_XY=6439;gnomADv4_1_AF_grpmax_joint=0.183673;gnomADv4_1_AF_joint=0.0873889;gnomADv4_1_AF_joint_XX=0.0878843;gnomADv4_1_AF_joint_XY=0.0868703;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151724;gnomADv4_1_AN_joint_XX=77602;gnomADv4_1_AN_joint_XY=74122;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=736;gnomADv4_1_nhomalt_joint_XX=419;gnomADv4_1_nhomalt_joint_XY=317;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2748809 chrX_2748809_G_A G A 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.541;CADD_Rawscore=-0.173413;CSQ=A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs34636047|3243|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2748809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs34636047|3239|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2748809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs34636047|3487|1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2748809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs34636047|3239|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2748809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs34636047|3231|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2748809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs34636047|3231|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2748809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs34636047|3231|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2748809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs34636047|3231|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2748809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs34636047|3231|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2748809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs34636047|3231|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2748809G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs34636047|3231|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2748809G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8260;gnomADv4_1_AC_joint_XX=4690;gnomADv4_1_AC_joint_XY=3570;gnomADv4_1_AF_grpmax_joint=0.083586;gnomADv4_1_AF_joint=0.05434;gnomADv4_1_AF_joint_XX=0.060351;gnomADv4_1_AF_joint_XY=0.0480523;gnomADv4_1_AN_grpmax_joint=67954;gnomADv4_1_AN_joint=152006;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=289;gnomADv4_1_nhomalt_joint_XX=197;gnomADv4_1_nhomalt_joint_XY=92;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2748992 chrX_2748992_T_C T C 53 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.474;CADD_Rawscore=0.220852;CSQ=C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs311104|3060|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2748992T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs311104|3056|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2748992T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs311104|3304|1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2748992T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs311104|3056|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2748992T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs311104|3048|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2748992T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs311104|3048|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2748992T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs311104|3048|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2748992T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs311104|3048|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2748992T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs311104|3048|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2748992T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs311104|3048|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2748992T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs311104|3048|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2748992T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77150;gnomADv4_1_AC_joint_XX=38755;gnomADv4_1_AC_joint_XY=38395;gnomADv4_1_AF_grpmax_joint=0.671182;gnomADv4_1_AF_joint=0.508007;gnomADv4_1_AF_joint_XX=0.498803;gnomADv4_1_AF_joint_XY=0.517648;gnomADv4_1_AN_grpmax_joint=41418;gnomADv4_1_AN_joint=151868;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74172;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20329;gnomADv4_1_nhomalt_joint_XX=10058;gnomADv4_1_nhomalt_joint_XY=10271;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2749117 chrX_2749117_TTCCCTCCCTCCCTCCCTCCC_T TTCCCTCCCTCCCTCCCTCCC T 23 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=23;CADDIndel_PHREDscore=0.367;CADDIndel_Rawscore=-0.270836;CSQ=-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs57492902|2915|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||TCCCTCCCTCCCTCCCTCCC|TCCCTCCCTCCCTCCCTCCC||||chrX:g.2749143_2749162del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs57492902|2911|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||TCCCTCCCTCCCTCCCTCCC|TCCCTCCCTCCCTCCCTCCC||||chrX:g.2749143_2749162del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs57492902|3159|1||HGNC|HGNC:12806|1||||||||Ensembl||TCCCTCCCTCCCTCCCTCCC|TCCCTCCCTCCCTCCCTCCC||||chrX:g.2749143_2749162del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs57492902|2911|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||TCCCTCCCTCCCTCCCTCCC|TCCCTCCCTCCCTCCCTCCC||||chrX:g.2749143_2749162del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs57492902|2903|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||TCCCTCCCTCCCTCCCTCCC|TCCCTCCCTCCCTCCCTCCC||||chrX:g.2749143_2749162del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs57492902|2903|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||TCCCTCCCTCCCTCCCTCCC|TCCCTCCCTCCCTCCCTCCC||||chrX:g.2749143_2749162del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs57492902|2903|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||TCCCTCCCTCCCTCCCTCCC|TCCCTCCCTCCCTCCCTCCC||||chrX:g.2749143_2749162del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs57492902|2903|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||TCCCTCCCTCCCTCCCTCCC|TCCCTCCCTCCCTCCCTCCC||||chrX:g.2749143_2749162del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs57492902|2903|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||TCCCTCCCTCCCTCCCTCCC|TCCCTCCCTCCCTCCCTCCC||||chrX:g.2749143_2749162del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs57492902|2903|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||TCCCTCCCTCCCTCCCTCCC|TCCCTCCCTCCCTCCCTCCC||||chrX:g.2749143_2749162del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs57492902|2903|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||TCCCTCCCTCCCTCCCTCCC|TCCCTCCCTCCCTCCCTCCC||||chrX:g.2749143_2749162del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32710;gnomADv4_1_AC_joint_XX=18973;gnomADv4_1_AC_joint_XY=13737;gnomADv4_1_AF_grpmax_joint=0.519373;gnomADv4_1_AF_joint=0.450712;gnomADv4_1_AF_joint_XX=0.465892;gnomADv4_1_AF_joint_XY=0.431303;gnomADv4_1_AN_grpmax_joint=2426;gnomADv4_1_AN_joint=72574;gnomADv4_1_AN_joint_XX=40724;gnomADv4_1_AN_joint_XY=31850;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5158;gnomADv4_1_nhomalt_joint_XX=3198;gnomADv4_1_nhomalt_joint_XY=1960;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2749236 chrX_2749236_C_T C T 37 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=37;CADD_PHREDscore=1.198;CADD_Rawscore=0.029166;CSQ=T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs28897172|2816|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2749236C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs28897172|2812|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2749236C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs28897172|3060|1||HGNC|HGNC:12806|1||||||||Ensembl||C|C||||chrX:g.2749236C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs28897172|2812|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2749236C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs28897172|2804|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2749236C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs28897172|2804|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2749236C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs28897172|2804|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2749236C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs28897172|2804|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2749236C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs28897172|2804|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2749236C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs28897172|2804|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2749236C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs28897172|2804|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2749236C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58062;gnomADv4_1_AC_joint_XX=30446;gnomADv4_1_AC_joint_XY=27616;gnomADv4_1_AF_grpmax_joint=0.640814;gnomADv4_1_AF_joint=0.494363;gnomADv4_1_AF_joint_XX=0.4901;gnomADv4_1_AF_joint_XY=0.49915;gnomADv4_1_AN_grpmax_joint=28456;gnomADv4_1_AN_joint=117448;gnomADv4_1_AN_joint_XX=62122;gnomADv4_1_AN_joint_XY=55326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=15400;gnomADv4_1_nhomalt_joint_XX=7966;gnomADv4_1_nhomalt_joint_XY=7434;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2749255 chrX_2749255_C_CTCCTTCCTTCCT C CTCCTTCCTTCCT 26 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=26;CADDIndel_PHREDscore=0.335;CADDIndel_Rawscore=-0.293914;CSQ=TCCTTCCTTCCT|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs770177139|2796|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl|||||||chrX:g.2749269_2749280dup|||||||||||||,TCCTTCCTTCCT|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs770177139|2792|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2749269_2749280dup|||||||||||||,TCCTTCCTTCCT|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs770177139|3040|1||HGNC|HGNC:12806|1||||||||Ensembl|||||||chrX:g.2749269_2749280dup|||||||||||||,TCCTTCCTTCCT|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs770177139|2792|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2749269_2749280dup|||||||||||||,TCCTTCCTTCCT|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs770177139|2784|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl|||||||chrX:g.2749269_2749280dup|||||||||||||,TCCTTCCTTCCT|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs770177139|2784|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq|||||||chrX:g.2749269_2749280dup|||||||||||||,TCCTTCCTTCCT|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs770177139|2784|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq|||||||chrX:g.2749269_2749280dup|||||||||||||,TCCTTCCTTCCT|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs770177139|2784|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq|||||||chrX:g.2749269_2749280dup|||||||||||||,TCCTTCCTTCCT|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs770177139|2784|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq|||||||chrX:g.2749269_2749280dup|||||||||||||,TCCTTCCTTCCT|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs770177139|2784|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq|||||||chrX:g.2749269_2749280dup|||||||||||||,TCCTTCCTTCCT|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs770177139|2784|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq|||||||chrX:g.2749269_2749280dup|||||||||||||;TYPE=INDEL;VEP_Allele=TCCTTCCTTCCT,TCCTTCCTTCCT,TCCTTCCTTCCT,TCCTTCCTTCCT,TCCTTCCTTCCT,TCCTTCCTTCCT,TCCTTCCTTCCT,TCCTTCCTTCCT,TCCTTCCTTCCT,TCCTTCCTTCCT,TCCTTCCTTCCT;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24721;gnomADv4_1_AC_joint_XX=13008;gnomADv4_1_AC_joint_XY=11713;gnomADv4_1_AF_grpmax_joint=0.266526;gnomADv4_1_AF_joint=0.228184;gnomADv4_1_AF_joint_XX=0.228307;gnomADv4_1_AF_joint_XY=0.228048;gnomADv4_1_AN_grpmax_joint=52674;gnomADv4_1_AN_joint=108338;gnomADv4_1_AN_joint_XX=56976;gnomADv4_1_AN_joint_XY=51362;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3415;gnomADv4_1_nhomalt_joint_XX=1712;gnomADv4_1_nhomalt_joint_XY=1703;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2749294 chrX_2749294_T_C T C 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=.;AF_XY=0.25;AN=4;AN_XX=0;AN_XY=4;AQ=23;CADD_PHREDscore=1.263;CADD_Rawscore=0.042979;CSQ=C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs312242|2758|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2749294T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs312242|2754|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2749294T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs312242|3002|1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2749294T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs312242|2754|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2749294T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs312242|2746|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2749294T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs312242|2746|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2749294T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs312242|2746|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2749294T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs312242|2746|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2749294T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs312242|2746|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2749294T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs312242|2746|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2749294T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs312242|2746|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2749294T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15382;gnomADv4_1_AC_joint_XX=7122;gnomADv4_1_AC_joint_XY=8260;gnomADv4_1_AF_grpmax_joint=0.188335;gnomADv4_1_AF_joint=0.141569;gnomADv4_1_AF_joint_XX=0.128821;gnomADv4_1_AF_joint_XY=0.154774;gnomADv4_1_AN_grpmax_joint=10922;gnomADv4_1_AN_joint=108654;gnomADv4_1_AN_joint_XX=55286;gnomADv4_1_AN_joint_XY=53368;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1049;gnomADv4_1_nhomalt_joint_XX=404;gnomADv4_1_nhomalt_joint_XY=645;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2749353 chrX_2749353_T_G T G 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=1.84;CADD_Rawscore=0.141871;CSQ=G|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs312241|2699|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2749353T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs312241|2695|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2749353T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs312241|2943|1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2749353T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs312241|2695|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2749353T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs312241|2687|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2749353T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs312241|2687|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2749353T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs312241|2687|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2749353T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs312241|2687|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2749353T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs312241|2687|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2749353T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs312241|2687|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2749353T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs312241|2687|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2749353T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17313;gnomADv4_1_AC_joint_XX=7976;gnomADv4_1_AC_joint_XY=9337;gnomADv4_1_AF_grpmax_joint=0.160768;gnomADv4_1_AF_joint=0.116285;gnomADv4_1_AF_joint_XX=0.104373;gnomADv4_1_AF_joint_XY=0.128847;gnomADv4_1_AN_grpmax_joint=14692;gnomADv4_1_AN_joint=148884;gnomADv4_1_AN_joint_XX=76418;gnomADv4_1_AN_joint_XY=72466;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1129;gnomADv4_1_nhomalt_joint_XX=445;gnomADv4_1_nhomalt_joint_XY=684;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2749501 chrX_2749501_T_C T C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=2.022;CADD_Rawscore=0.166885;CSQ=C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs311105|2551|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2749501T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs311105|2547|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2749501T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs311105|2795|1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2749501T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs311105|2547|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2749501T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs311105|2539|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2749501T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs311105|2539|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2749501T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs311105|2539|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2749501T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs311105|2539|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2749501T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs311105|2539|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2749501T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs311105|2539|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2749501T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs311105|2539|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2749501T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82558;gnomADv4_1_AC_joint_XX=42789;gnomADv4_1_AC_joint_XY=39769;gnomADv4_1_AF_grpmax_joint=0.64123;gnomADv4_1_AF_joint=0.547598;gnomADv4_1_AF_joint_XX=0.553846;gnomADv4_1_AF_joint_XY=0.541031;gnomADv4_1_AN_grpmax_joint=41004;gnomADv4_1_AN_joint=150764;gnomADv4_1_AN_joint_XX=77258;gnomADv4_1_AN_joint_XY=73506;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22948;gnomADv4_1_nhomalt_joint_XX=12061;gnomADv4_1_nhomalt_joint_XY=10887;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2749503 chrX_2749503_G_A G A 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.912;CADD_Rawscore=-0.04145;CSQ=A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs312240|2549|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2749503G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs312240|2545|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2749503G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs312240|2793|1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2749503G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs312240|2545|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2749503G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs312240|2537|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2749503G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs312240|2537|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2749503G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs312240|2537|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2749503G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs312240|2537|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2749503G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs312240|2537|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2749503G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs312240|2537|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2749503G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs312240|2537|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2749503G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28037;gnomADv4_1_AC_joint_XX=14093;gnomADv4_1_AC_joint_XY=13944;gnomADv4_1_AF_grpmax_joint=0.220543;gnomADv4_1_AF_joint=0.185646;gnomADv4_1_AF_joint_XX=0.182231;gnomADv4_1_AF_joint_XY=0.18923;gnomADv4_1_AN_grpmax_joint=15090;gnomADv4_1_AN_joint=151024;gnomADv4_1_AN_joint_XX=77336;gnomADv4_1_AN_joint_XY=73688;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=2843;gnomADv4_1_nhomalt_joint_XX=1377;gnomADv4_1_nhomalt_joint_XY=1466;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2750077 chrX_2750077_T_C T C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.622;CADD_Rawscore=-0.138497;CSQ=C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs311106|1975|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2750077T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs311106|1971|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2750077T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs311106|2219|1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2750077T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs311106|1971|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2750077T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs311106|1963|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2750077T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs311106|1963|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2750077T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs311106|1963|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2750077T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs311106|1963|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2750077T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs311106|1963|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2750077T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs311106|1963|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2750077T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs311106|1963|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2750077T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=83834;gnomADv4_1_AC_joint_XX=43471;gnomADv4_1_AC_joint_XY=40363;gnomADv4_1_AF_grpmax_joint=0.654074;gnomADv4_1_AF_joint=0.553696;gnomADv4_1_AF_joint_XX=0.560844;gnomADv4_1_AF_joint_XY=0.546199;gnomADv4_1_AN_grpmax_joint=41240;gnomADv4_1_AN_joint=151408;gnomADv4_1_AN_joint_XX=77510;gnomADv4_1_AN_joint_XY=73898;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23614;gnomADv4_1_nhomalt_joint_XX=12436;gnomADv4_1_nhomalt_joint_XY=11178;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2750126 chrX_2750126_G_A G A 59 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=59;CADD_PHREDscore=1.17;CADD_Rawscore=0.022981;CSQ=A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs311107|1926|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2750126G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs311107|1922|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2750126G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs311107|2170|1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2750126G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs311107|1922|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2750126G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs311107|1914|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2750126G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs311107|1914|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2750126G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs311107|1914|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2750126G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs311107|1914|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2750126G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs311107|1914|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2750126G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs311107|1914|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2750126G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs311107|1914|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2750126G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81779;gnomADv4_1_AC_joint_XX=42271;gnomADv4_1_AC_joint_XY=39508;gnomADv4_1_AF_grpmax_joint=0.614959;gnomADv4_1_AF_joint=0.542215;gnomADv4_1_AF_joint_XX=0.54707;gnomADv4_1_AF_joint_XY=0.537115;gnomADv4_1_AN_grpmax_joint=41032;gnomADv4_1_AN_joint=150824;gnomADv4_1_AN_joint_XX=77268;gnomADv4_1_AN_joint_XY=73556;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=22414;gnomADv4_1_nhomalt_joint_XX=11718;gnomADv4_1_nhomalt_joint_XY=10696;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2750204 chrX_2750204_CA_C CA C 53 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADDIndel_PHREDscore=0.238;CADDIndel_Rawscore=-0.3816;CSQ=-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs34870375|1847|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2750220del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs34870375|1843|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2750220del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs34870375|2091|1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2750220del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs34870375|1843|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2750220del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs34870375|1835|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2750220del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs34870375|1835|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2750220del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs34870375|1835|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2750220del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs34870375|1835|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2750220del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs34870375|1835|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2750220del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs34870375|1835|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2750220del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs34870375|1835|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2750220del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42547;gnomADv4_1_AC_joint_XX=22900;gnomADv4_1_AC_joint_XY=19647;gnomADv4_1_AF_grpmax_joint=0.425434;gnomADv4_1_AF_joint=0.357664;gnomADv4_1_AF_joint_XX=0.36515;gnomADv4_1_AF_joint_XY=0.349317;gnomADv4_1_AN_grpmax_joint=3916;gnomADv4_1_AN_joint=118958;gnomADv4_1_AN_joint_XX=62714;gnomADv4_1_AN_joint_XY=56244;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5964;gnomADv4_1_nhomalt_joint_XX=3372;gnomADv4_1_nhomalt_joint_XY=2592;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2750696 chrX_2750696_A_ACACACATGCACACG A ACACACATGCACACG 42 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.952;CADDIndel_Rawscore=-0.030407;CSQ=CACACATGCACACG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs776221262|1355|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl|||||||chrX:g.2750717_2750730dup|||||||||||||,CACACATGCACACG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs776221262|1351|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2750717_2750730dup|||||||||||||,CACACATGCACACG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs776221262|1599|1||HGNC|HGNC:12806|1||||||||Ensembl|||||||chrX:g.2750717_2750730dup|||||||||||||,CACACATGCACACG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs776221262|1351|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2750717_2750730dup|||||||||||||,CACACATGCACACG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs776221262|1343|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl|||||||chrX:g.2750717_2750730dup|||||||||||||,CACACATGCACACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs776221262|1343|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq|||||||chrX:g.2750717_2750730dup|||||||||||||,CACACATGCACACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs776221262|1343|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq|||||||chrX:g.2750717_2750730dup|||||||||||||,CACACATGCACACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs776221262|1343|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq|||||||chrX:g.2750717_2750730dup|||||||||||||,CACACATGCACACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs776221262|1343|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq|||||||chrX:g.2750717_2750730dup|||||||||||||,CACACATGCACACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs776221262|1343|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq|||||||chrX:g.2750717_2750730dup|||||||||||||,CACACATGCACACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs776221262|1343|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq|||||||chrX:g.2750717_2750730dup|||||||||||||;TYPE=INDEL;VEP_Allele=CACACATGCACACG,CACACATGCACACG,CACACATGCACACG,CACACATGCACACG,CACACATGCACACG,CACACATGCACACG,CACACATGCACACG,CACACATGCACACG,CACACATGCACACG,CACACATGCACACG,CACACATGCACACG;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17692;gnomADv4_1_AC_joint_XX=9656;gnomADv4_1_AC_joint_XY=8036;gnomADv4_1_AF_grpmax_joint=0.229452;gnomADv4_1_AF_joint=0.119172;gnomADv4_1_AF_joint_XX=0.126769;gnomADv4_1_AF_joint_XY=0.111166;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=148458;gnomADv4_1_AN_joint_XX=76170;gnomADv4_1_AN_joint_XY=72288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1154;gnomADv4_1_nhomalt_joint_XX=679;gnomADv4_1_nhomalt_joint_XY=475;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2750726 chrX_2750726_A_ACACATG A ACACATG 25 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=25;CADDIndel_PHREDscore=0.741;CADDIndel_Rawscore=-0.094636;CSQ=CACATG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs1313658744|1325|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl|||||||chrX:g.2750730_2750731insTGCACA|||||||||||||,CACATG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs1313658744|1321|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2750730_2750731insTGCACA|||||||||||||,CACATG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs1313658744|1569|1||HGNC|HGNC:12806|1||||||||Ensembl|||||||chrX:g.2750730_2750731insTGCACA|||||||||||||,CACATG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs1313658744|1321|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2750730_2750731insTGCACA|||||||||||||,CACATG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs1313658744|1313|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl|||||||chrX:g.2750730_2750731insTGCACA|||||||||||||,CACATG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs1313658744|1313|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq|||||||chrX:g.2750730_2750731insTGCACA|||||||||||||,CACATG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs1313658744|1313|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq|||||||chrX:g.2750730_2750731insTGCACA|||||||||||||,CACATG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs1313658744|1313|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq|||||||chrX:g.2750730_2750731insTGCACA|||||||||||||,CACATG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs1313658744|1313|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq|||||||chrX:g.2750730_2750731insTGCACA|||||||||||||,CACATG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs1313658744|1313|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq|||||||chrX:g.2750730_2750731insTGCACA|||||||||||||,CACATG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs1313658744|1313|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq|||||||chrX:g.2750730_2750731insTGCACA|||||||||||||;TYPE=INDEL;VEP_Allele=CACATG,CACATG,CACATG,CACATG,CACATG,CACATG,CACATG,CACATG,CACATG,CACATG,CACATG;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42974;gnomADv4_1_AC_joint_XX=22861;gnomADv4_1_AC_joint_XY=20113;gnomADv4_1_AF_grpmax_joint=0.360899;gnomADv4_1_AF_joint=0.297024;gnomADv4_1_AF_joint_XX=0.307503;gnomADv4_1_AF_joint_XY=0.285948;gnomADv4_1_AN_grpmax_joint=4982;gnomADv4_1_AN_joint=144682;gnomADv4_1_AN_joint_XX=74344;gnomADv4_1_AN_joint_XY=70338;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6152;gnomADv4_1_nhomalt_joint_XX=3403;gnomADv4_1_nhomalt_joint_XY=2749;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2750736 chrX_2750736_A_ACACGCACACACGCACG;chrX_2750736_A_ACACGCACG A ACACGCACACACGCACG 23 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=23;CADDIndel_PHREDscore=0.776;CADDIndel_Rawscore=-0.082701;CSQ=CACGCACACACGCACG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs1556351026|1315|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl|||||||chrX:g.2750739_2750740insGCACACACGCACGCAC|||||||||||||,CACGCACACACGCACG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs1556351026|1311|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2750739_2750740insGCACACACGCACGCAC|||||||||||||,CACGCACACACGCACG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs1556351026|1559|1||HGNC|HGNC:12806|1||||||||Ensembl|||||||chrX:g.2750739_2750740insGCACACACGCACGCAC|||||||||||||,CACGCACACACGCACG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs1556351026|1311|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2750739_2750740insGCACACACGCACGCAC|||||||||||||,CACGCACACACGCACG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs1556351026|1303|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl|||||||chrX:g.2750739_2750740insGCACACACGCACGCAC|||||||||||||,CACGCACACACGCACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs1556351026|1303|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq|||||||chrX:g.2750739_2750740insGCACACACGCACGCAC|||||||||||||,CACGCACACACGCACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs1556351026|1303|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq|||||||chrX:g.2750739_2750740insGCACACACGCACGCAC|||||||||||||,CACGCACACACGCACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs1556351026|1303|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq|||||||chrX:g.2750739_2750740insGCACACACGCACGCAC|||||||||||||,CACGCACACACGCACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs1556351026|1303|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq|||||||chrX:g.2750739_2750740insGCACACACGCACGCAC|||||||||||||,CACGCACACACGCACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs1556351026|1303|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq|||||||chrX:g.2750739_2750740insGCACACACGCACGCAC|||||||||||||,CACGCACACACGCACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs1556351026|1303|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq|||||||chrX:g.2750739_2750740insGCACACACGCACGCAC|||||||||||||;TYPE=INDEL;VEP_Allele=CACGCACACACGCACG,CACGCACACACGCACG,CACGCACACACGCACG,CACGCACACACGCACG,CACGCACACACGCACG,CACGCACACACGCACG,CACGCACACACGCACG,CACGCACACACGCACG,CACGCACACACGCACG,CACGCACACACGCACG,CACGCACACACGCACG;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39380;gnomADv4_1_AC_joint_XX=20829;gnomADv4_1_AC_joint_XY=18551;gnomADv4_1_AF_grpmax_joint=0.3598;gnomADv4_1_AF_joint=0.272673;gnomADv4_1_AF_joint_XX=0.282236;gnomADv4_1_AF_joint_XY=0.26268;gnomADv4_1_AN_grpmax_joint=5000;gnomADv4_1_AN_joint=144422;gnomADv4_1_AN_joint_XX=73800;gnomADv4_1_AN_joint_XY=70622;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5278;gnomADv4_1_nhomalt_joint_XX=2867;gnomADv4_1_nhomalt_joint_XY=2411;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2750736 chrX_2750736_A_ACACGCACACACGCACG;chrX_2750736_A_ACACGCACG A ACACGCACG 23 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=23;CADDIndel_PHREDscore=0.897;CADDIndel_Rawscore=-0.04584;CSQ=CACGCACG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs1556351026|1315|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl|||||||chrX:g.2750739_2750740insGCACGCAC|||||||||||||,CACGCACG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs1556351026|1311|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2750739_2750740insGCACGCAC|||||||||||||,CACGCACG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs1556351026|1559|1||HGNC|HGNC:12806|1||||||||Ensembl|||||||chrX:g.2750739_2750740insGCACGCAC|||||||||||||,CACGCACG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs1556351026|1311|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2750739_2750740insGCACGCAC|||||||||||||,CACGCACG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs1556351026|1303|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl|||||||chrX:g.2750739_2750740insGCACGCAC|||||||||||||,CACGCACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs1556351026|1303|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq|||||||chrX:g.2750739_2750740insGCACGCAC|||||||||||||,CACGCACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs1556351026|1303|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq|||||||chrX:g.2750739_2750740insGCACGCAC|||||||||||||,CACGCACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs1556351026|1303|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq|||||||chrX:g.2750739_2750740insGCACGCAC|||||||||||||,CACGCACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs1556351026|1303|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq|||||||chrX:g.2750739_2750740insGCACGCAC|||||||||||||,CACGCACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs1556351026|1303|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq|||||||chrX:g.2750739_2750740insGCACGCAC|||||||||||||,CACGCACG|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs1556351026|1303|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq|||||||chrX:g.2750739_2750740insGCACGCAC|||||||||||||;TYPE=INDEL;VEP_Allele=CACGCACG,CACGCACG,CACGCACG,CACGCACG,CACGCACG,CACGCACG,CACGCACG,CACGCACG,CACGCACG,CACGCACG,CACGCACG;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17254;gnomADv4_1_AC_joint_XX=7774;gnomADv4_1_AC_joint_XY=9480;gnomADv4_1_AF_grpmax_joint=0.165707;gnomADv4_1_AF_joint=0.11878;gnomADv4_1_AF_joint_XX=0.104799;gnomADv4_1_AF_joint_XY=0.133371;gnomADv4_1_AN_grpmax_joint=14592;gnomADv4_1_AN_joint=145260;gnomADv4_1_AN_joint_XX=74180;gnomADv4_1_AN_joint_XY=71080;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1109;gnomADv4_1_nhomalt_joint_XX=421;gnomADv4_1_nhomalt_joint_XY=688;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2751003 chrX_2751003_G_T G T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.84;CADD_Rawscore=-0.062643;CSQ=T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs312238|1049|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2751003G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs312238|1045|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2751003G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs312238|1293|1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2751003G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs312238|1045|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2751003G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs312238|1037|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2751003G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs312238|1037|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2751003G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs312238|1037|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2751003G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs312238|1037|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2751003G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs312238|1037|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2751003G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs312238|1037|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2751003G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs312238|1037|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2751003G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16775;gnomADv4_1_AC_joint_XX=7477;gnomADv4_1_AC_joint_XY=9298;gnomADv4_1_AF_grpmax_joint=0.1597;gnomADv4_1_AF_joint=0.110452;gnomADv4_1_AF_joint_XX=0.0962787;gnomADv4_1_AF_joint_XY=0.125283;gnomADv4_1_AN_grpmax_joint=15216;gnomADv4_1_AN_joint=151876;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=74216;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1025;gnomADv4_1_nhomalt_joint_XX=382;gnomADv4_1_nhomalt_joint_XY=643;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2751109 chrX_2751109_CA_C CA C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADDIndel_PHREDscore=0.088;CADDIndel_Rawscore=-0.645837;CSQ=-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs67334472|942|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2751121del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs67334472|938|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2751121del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs67334472|1186|1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2751121del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs67334472|938|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2751121del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs67334472|930|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2751121del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs67334472|930|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2751121del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs67334472|930|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2751121del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs67334472|930|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2751121del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs67334472|930|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2751121del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs67334472|930|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2751121del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs67334472|930|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2751121del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80593;gnomADv4_1_AC_joint_XX=41879;gnomADv4_1_AC_joint_XY=38714;gnomADv4_1_AF_grpmax_joint=0.640149;gnomADv4_1_AF_joint=0.558046;gnomADv4_1_AF_joint_XX=0.560824;gnomADv4_1_AF_joint_XY=0.555071;gnomADv4_1_AN_grpmax_joint=39622;gnomADv4_1_AN_joint=144420;gnomADv4_1_AN_joint_XX=74674;gnomADv4_1_AN_joint_XY=69746;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=21986;gnomADv4_1_nhomalt_joint_XX=11577;gnomADv4_1_nhomalt_joint_XY=10409;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2751622 chrX_2751622_T_TGTC T TGTC 48 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADDIndel_PHREDscore=0.746;CADDIndel_Rawscore=-0.092973;CSQ=GTC|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs10628814|429|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl|||||||chrX:g.2751622_2751623insGTC|||||||||||||,GTC|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs10628814|425|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2751622_2751623insGTC|||||||||||||,GTC|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs10628814|673|1||HGNC|HGNC:12806|1||||||||Ensembl|||||||chrX:g.2751622_2751623insGTC|||||||||||||,GTC|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs10628814|425|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2751622_2751623insGTC|||||||||||||,GTC|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs10628814|417|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl|||||||chrX:g.2751622_2751623insGTC|||||||||||||,GTC|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs10628814|417|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq|||||||chrX:g.2751622_2751623insGTC|||||||||||||,GTC|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs10628814|417|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq|||||||chrX:g.2751622_2751623insGTC|||||||||||||,GTC|upstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs10628814|417|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq|||||||chrX:g.2751622_2751623insGTC|||||||||||||,GTC|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs10628814|417|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq|||||||chrX:g.2751622_2751623insGTC|||||||||||||,GTC|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs10628814|417|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq|||||||chrX:g.2751622_2751623insGTC|||||||||||||,GTC|upstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs10628814|417|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq|||||||chrX:g.2751622_2751623insGTC|||||||||||||;TYPE=INDEL;VEP_Allele=GTC,GTC,GTC,GTC,GTC,GTC,GTC,GTC,GTC,GTC,GTC;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=83962;gnomADv4_1_AC_joint_XX=43527;gnomADv4_1_AC_joint_XY=40435;gnomADv4_1_AF_grpmax_joint=0.642812;gnomADv4_1_AF_joint=0.553905;gnomADv4_1_AF_joint_XX=0.561204;gnomADv4_1_AF_joint_XY=0.546257;gnomADv4_1_AN_grpmax_joint=41306;gnomADv4_1_AN_joint=151582;gnomADv4_1_AN_joint_XX=77560;gnomADv4_1_AN_joint_XY=74022;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23560;gnomADv4_1_nhomalt_joint_XX=12412;gnomADv4_1_nhomalt_joint_XY=11148;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2752551 chrX_2752551_G_T G T 46 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.899;CADD_Rawscore=-0.045255;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+216G>T|||||||rs312237||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2752551G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+216G>T|||||||rs312237||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2752551G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+216G>T|||||||rs312237||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2752551G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+216G>T|||||||rs312237||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2752551G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+216G>T|||||||rs312237||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2752551G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+216G>T|||||||rs312237||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2752551G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+216G>T|||||||rs312237||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2752551G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+216G>T|||||||rs312237||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2752551G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+216G>T|||||||rs312237||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2752551G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+216G>T|||||||rs312237||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2752551G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+216G>T|||||||rs312237||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2752551G>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|-2|22|-2|2;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64278;gnomADv4_1_AC_joint_XX=31800;gnomADv4_1_AC_joint_XY=32478;gnomADv4_1_AF_grpmax_joint=0.487769;gnomADv4_1_AF_joint=0.423405;gnomADv4_1_AF_joint_XX=0.409467;gnomADv4_1_AF_joint_XY=0.438004;gnomADv4_1_AN_grpmax_joint=41370;gnomADv4_1_AN_joint=151812;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=74150;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=13801;gnomADv4_1_nhomalt_joint_XX=6654;gnomADv4_1_nhomalt_joint_XY=7147;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2752631 chrX_2752631_A_G A G 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=14;CADD_PHREDscore=0.258;CADD_Rawscore=-0.361197;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+296A>G|||||||rs138761097||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2752631A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+296A>G|||||||rs138761097||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2752631A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+296A>G|||||||rs138761097||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2752631A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+296A>G|||||||rs138761097||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2752631A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+296A>G|||||||rs138761097||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2752631A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+296A>G|||||||rs138761097||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2752631A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+296A>G|||||||rs138761097||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2752631A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+296A>G|||||||rs138761097||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2752631A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+296A>G|||||||rs138761097||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2752631A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+296A>G|||||||rs138761097||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2752631A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+296A>G|||||||rs138761097||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2752631A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|-17|2|28|-3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8203;gnomADv4_1_AC_joint_XX=4682;gnomADv4_1_AC_joint_XY=3521;gnomADv4_1_AF_grpmax_joint=0.0832181;gnomADv4_1_AF_joint=0.0538976;gnomADv4_1_AF_joint_XX=0.0601799;gnomADv4_1_AF_joint_XY=0.0473278;gnomADv4_1_AN_grpmax_joint=68002;gnomADv4_1_AN_joint=152196;gnomADv4_1_AN_joint_XX=77800;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=282;gnomADv4_1_nhomalt_joint_XX=194;gnomADv4_1_nhomalt_joint_XY=88;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2753627 chrX_2753627_G_C G C 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.858;CADD_Rawscore=-0.057356;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+1292G>C|||||||rs66493023||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2753627G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+1292G>C|||||||rs66493023||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2753627G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+1292G>C|||||||rs66493023||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2753627G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+1292G>C|||||||rs66493023||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2753627G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+1292G>C|||||||rs66493023||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2753627G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+1292G>C|||||||rs66493023||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2753627G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+1292G>C|||||||rs66493023||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2753627G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+1292G>C|||||||rs66493023||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2753627G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+1292G>C|||||||rs66493023||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2753627G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+1292G>C|||||||rs66493023||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2753627G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+1292G>C|||||||rs66493023||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2753627G>C|||||||||||||;SpliceAI=C|XG|0.01|0.00|0.00|0.00|-28|1|-28|1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15795;gnomADv4_1_AC_joint_XX=9024;gnomADv4_1_AC_joint_XY=6771;gnomADv4_1_AF_grpmax_joint=0.14966;gnomADv4_1_AF_joint=0.104589;gnomADv4_1_AF_joint_XX=0.116643;gnomADv4_1_AF_joint_XY=0.0919273;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=151020;gnomADv4_1_AN_joint_XX=77364;gnomADv4_1_AN_joint_XY=73656;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=908;gnomADv4_1_nhomalt_joint_XX=583;gnomADv4_1_nhomalt_joint_XY=325;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2753727 chrX_2753727_T_C T C 54 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.262;CADD_Rawscore=-0.356922;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+1392T>C|||||||rs311109||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2753727T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+1392T>C|||||||rs311109||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2753727T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+1392T>C|||||||rs311109||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2753727T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+1392T>C|||||||rs311109||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2753727T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+1392T>C|||||||rs311109||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2753727T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+1392T>C|||||||rs311109||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2753727T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+1392T>C|||||||rs311109||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2753727T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+1392T>C|||||||rs311109||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2753727T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+1392T>C|||||||rs311109||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2753727T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+1392T>C|||||||rs311109||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2753727T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+1392T>C|||||||rs311109||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2753727T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|38|-2|-18|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84621;gnomADv4_1_AC_joint_XX=43914;gnomADv4_1_AC_joint_XY=40707;gnomADv4_1_AF_grpmax_joint=0.637259;gnomADv4_1_AF_joint=0.558208;gnomADv4_1_AF_joint_XX=0.566238;gnomADv4_1_AF_joint_XY=0.549797;gnomADv4_1_AN_grpmax_joint=41338;gnomADv4_1_AN_joint=151594;gnomADv4_1_AN_joint_XX=77554;gnomADv4_1_AN_joint_XY=74040;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=23963;gnomADv4_1_nhomalt_joint_XX=12655;gnomADv4_1_nhomalt_joint_XY=11308;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2753912 chrX_2753912_G_A G A 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.736;CADD_Rawscore=-0.096338;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+1577G>A|||||||rs311110||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2753912G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+1577G>A|||||||rs311110||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2753912G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+1577G>A|||||||rs311110||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2753912G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+1577G>A|||||||rs311110||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2753912G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+1577G>A|||||||rs311110||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2753912G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+1577G>A|||||||rs311110||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2753912G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+1577G>A|||||||rs311110||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2753912G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+1577G>A|||||||rs311110||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2753912G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+1577G>A|||||||rs311110||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2753912G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+1577G>A|||||||rs311110||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2753912G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+1577G>A|||||||rs311110||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2753912G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|19|-6|-8|18;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72232;gnomADv4_1_AC_joint_XX=37445;gnomADv4_1_AC_joint_XY=34787;gnomADv4_1_AF_grpmax_joint=0.528759;gnomADv4_1_AF_joint=0.476433;gnomADv4_1_AF_joint_XX=0.482651;gnomADv4_1_AF_joint_XY=0.469917;gnomADv4_1_AN_grpmax_joint=41344;gnomADv4_1_AN_joint=151610;gnomADv4_1_AN_joint_XX=77582;gnomADv4_1_AN_joint_XY=74028;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17404;gnomADv4_1_nhomalt_joint_XX=9166;gnomADv4_1_nhomalt_joint_XY=8238;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2754174 chrX_2754174_C_G C G 52 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.581;CADD_Rawscore=0.101903;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+1839C>G|||||||rs312236||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2754174C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+1839C>G|||||||rs312236||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2754174C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+1839C>G|||||||rs312236||1||HGNC|HGNC:12806|1||||||||Ensembl||C|C||||chrX:g.2754174C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+1839C>G|||||||rs312236||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2754174C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+1839C>G|||||||rs312236||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2754174C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+1839C>G|||||||rs312236||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2754174C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+1839C>G|||||||rs312236||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2754174C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+1839C>G|||||||rs312236||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2754174C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+1839C>G|||||||rs312236||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2754174C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+1839C>G|||||||rs312236||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2754174C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+1839C>G|||||||rs312236||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2754174C>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|1|-50|-1|19;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34234;gnomADv4_1_AC_joint_XX=17400;gnomADv4_1_AC_joint_XY=16834;gnomADv4_1_AF_grpmax_joint=0.261499;gnomADv4_1_AF_joint=0.225209;gnomADv4_1_AF_joint_XX=0.22384;gnomADv4_1_AF_joint_XY=0.226641;gnomADv4_1_AN_grpmax_joint=67920;gnomADv4_1_AN_joint=152010;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4141;gnomADv4_1_nhomalt_joint_XX=2035;gnomADv4_1_nhomalt_joint_XY=2106;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2754651 chrX_2754651_G_A G A 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=4.365;CADD_Rawscore=0.397725;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+2316G>A|||||||rs311112||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2754651G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+2316G>A|||||||rs311112||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2754651G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+2316G>A|||||||rs311112||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2754651G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+2316G>A|||||||rs311112||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2754651G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+2316G>A|||||||rs311112||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2754651G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+2316G>A|||||||rs311112||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2754651G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+2316G>A|||||||rs311112||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2754651G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+2316G>A|||||||rs311112||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2754651G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+2316G>A|||||||rs311112||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2754651G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+2316G>A|||||||rs311112||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2754651G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+2316G>A|||||||rs311112||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2754651G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|-36|5|13|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71680;gnomADv4_1_AC_joint_XX=37002;gnomADv4_1_AC_joint_XY=34678;gnomADv4_1_AF_grpmax_joint=0.510111;gnomADv4_1_AF_joint=0.471585;gnomADv4_1_AF_joint_XX=0.476278;gnomADv4_1_AF_joint_XY=0.466679;gnomADv4_1_AN_grpmax_joint=41440;gnomADv4_1_AN_joint=151998;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=17056;gnomADv4_1_nhomalt_joint_XX=8914;gnomADv4_1_nhomalt_joint_XY=8142;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2755057 chrX_2755057_C_T C T 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=0.427;CADD_Rawscore=-0.232501;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+2722C>T|||||||rs123468||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2755057C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+2722C>T|||||||rs123468||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2755057C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+2722C>T|||||||rs123468||1||HGNC|HGNC:12806|1||||||||Ensembl||C|C||||chrX:g.2755057C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+2722C>T|||||||rs123468||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2755057C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+2722C>T|||||||rs123468||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2755057C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+2722C>T|||||||rs123468||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2755057C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+2722C>T|||||||rs123468||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2755057C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+2722C>T|||||||rs123468||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2755057C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+2722C>T|||||||rs123468||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2755057C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+2722C>T|||||||rs123468||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2755057C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+2722C>T|||||||rs123468||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2755057C>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|14|6|-11|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25651;gnomADv4_1_AC_joint_XX=12531;gnomADv4_1_AC_joint_XY=13120;gnomADv4_1_AF_grpmax_joint=0.214858;gnomADv4_1_AF_joint=0.168679;gnomADv4_1_AF_joint_XX=0.161179;gnomADv4_1_AF_joint_XY=0.176524;gnomADv4_1_AN_grpmax_joint=67924;gnomADv4_1_AN_joint=152070;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=74324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2467;gnomADv4_1_nhomalt_joint_XX=1135;gnomADv4_1_nhomalt_joint_XY=1332;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2755881 chrX_2755881_T_C T C 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=0.298;CADD_Rawscore=-0.323651;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+3546T>C|||||||rs311113||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2755881T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+3546T>C|||||||rs311113||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2755881T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+3546T>C|||||||rs311113||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2755881T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+3546T>C|||||||rs311113||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2755881T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+3546T>C|||||||rs311113||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2755881T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+3546T>C|||||||rs311113||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2755881T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+3546T>C|||||||rs311113||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2755881T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+3546T>C|||||||rs311113||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2755881T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+3546T>C|||||||rs311113||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2755881T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+3546T>C|||||||rs311113||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2755881T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+3546T>C|||||||rs311113||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2755881T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|3|50|3|-16;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87569;gnomADv4_1_AC_joint_XX=45399;gnomADv4_1_AC_joint_XY=42170;gnomADv4_1_AF_grpmax_joint=0.648852;gnomADv4_1_AF_joint=0.579152;gnomADv4_1_AF_joint_XX=0.586611;gnomADv4_1_AF_joint_XY=0.571332;gnomADv4_1_AN_grpmax_joint=41202;gnomADv4_1_AN_joint=151202;gnomADv4_1_AN_joint_XX=77392;gnomADv4_1_AN_joint_XY=73810;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=25691;gnomADv4_1_nhomalt_joint_XX=13525;gnomADv4_1_nhomalt_joint_XY=12166;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2756235 chrX_2756235_C_T C T 51 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.755;CADD_Rawscore=-0.089836;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+3900C>T|||||||rs312234||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2756235C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+3900C>T|||||||rs312234||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2756235C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+3900C>T|||||||rs312234||1||HGNC|HGNC:12806|1||||||||Ensembl||C|C||||chrX:g.2756235C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+3900C>T|||||||rs312234||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2756235C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+3900C>T|||||||rs312234||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2756235C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+3900C>T|||||||rs312234||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2756235C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+3900C>T|||||||rs312234||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2756235C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+3900C>T|||||||rs312234||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2756235C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+3900C>T|||||||rs312234||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2756235C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+3900C>T|||||||rs312234||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2756235C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+3900C>T|||||||rs312234||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2756235C>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|-3|-15|-2|15;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37012;gnomADv4_1_AC_joint_XX=18668;gnomADv4_1_AC_joint_XY=18344;gnomADv4_1_AF_grpmax_joint=0.298192;gnomADv4_1_AF_joint=0.243647;gnomADv4_1_AF_joint_XX=0.240381;gnomADv4_1_AF_joint_XY=0.247064;gnomADv4_1_AN_grpmax_joint=67926;gnomADv4_1_AN_joint=151908;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=74248;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4833;gnomADv4_1_nhomalt_joint_XX=2359;gnomADv4_1_nhomalt_joint_XY=2474;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2756706 chrX_2756706_G_C G C 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.362;CADD_Rawscore=-0.274628;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+4371G>C|||||||rs311114||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2756706G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+4371G>C|||||||rs311114||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2756706G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+4371G>C|||||||rs311114||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2756706G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+4371G>C|||||||rs311114||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2756706G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+4371G>C|||||||rs311114||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2756706G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+4371G>C|||||||rs311114||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2756706G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+4371G>C|||||||rs311114||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2756706G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+4371G>C|||||||rs311114||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2756706G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+4371G>C|||||||rs311114||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2756706G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+4371G>C|||||||rs311114||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2756706G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+4371G>C|||||||rs311114||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2756706G>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|12|-25|12|25;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88684;gnomADv4_1_AC_joint_XX=46005;gnomADv4_1_AC_joint_XY=42679;gnomADv4_1_AF_grpmax_joint=0.666353;gnomADv4_1_AF_joint=0.583954;gnomADv4_1_AF_joint_XX=0.592237;gnomADv4_1_AF_joint_XY=0.575282;gnomADv4_1_AN_grpmax_joint=41418;gnomADv4_1_AN_joint=151868;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=74188;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26284;gnomADv4_1_nhomalt_joint_XX=13869;gnomADv4_1_nhomalt_joint_XY=12415;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2757421 chrX_2757421_G_C G C 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.329;CADD_Rawscore=-0.298776;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+5086G>C|||||||rs312233||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2757421G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+5086G>C|||||||rs312233||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2757421G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+5086G>C|||||||rs312233||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2757421G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+5086G>C|||||||rs312233||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2757421G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+5086G>C|||||||rs312233||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2757421G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+5086G>C|||||||rs312233||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2757421G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+5086G>C|||||||rs312233||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2757421G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+5086G>C|||||||rs312233||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2757421G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+5086G>C|||||||rs312233||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2757421G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+5086G>C|||||||rs312233||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2757421G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+5086G>C|||||||rs312233||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2757421G>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|17|-47|23|-47;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=79946;gnomADv4_1_AC_joint_XX=40165;gnomADv4_1_AC_joint_XY=39781;gnomADv4_1_AF_grpmax_joint=0.64565;gnomADv4_1_AF_joint=0.531796;gnomADv4_1_AF_joint_XX=0.521001;gnomADv4_1_AF_joint_XY=0.543159;gnomADv4_1_AN_grpmax_joint=40872;gnomADv4_1_AN_joint=150332;gnomADv4_1_AN_joint_XX=77092;gnomADv4_1_AN_joint_XY=73240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=21694;gnomADv4_1_nhomalt_joint_XX=10872;gnomADv4_1_nhomalt_joint_XY=10822;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2757971 chrX_2757971_CAAAAAAA_C;chrX_2757971_CAAAAAAAAAAAAA_C CAAAAAAA C 38 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=21;CADDIndel_PHREDscore=0.546;CADDIndel_Rawscore=-0.171017;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+5655_61+5661del|||||||rs59540338||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||AAAAAAA|AAAAAAA|||18|chrX:g.2757990_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+5655_61+5661del|||||||rs59540338||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||AAAAAAA|AAAAAAA|||18|chrX:g.2757990_2757996del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+5655_40+5661del|||||||rs59540338||1||HGNC|HGNC:12806|1||||||||Ensembl||AAAAAAA|AAAAAAA|||18|chrX:g.2757990_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+5655_61+5661del|||||||rs59540338||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||AAAAAAA|AAAAAAA|||18|chrX:g.2757990_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+5655_61+5661del|||||||rs59540338||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||AAAAAAA|AAAAAAA|||18|chrX:g.2757990_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+5655_61+5661del|||||||rs59540338||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||AAAAAAA|AAAAAAA|||18|chrX:g.2757990_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+5655_61+5661del|||||||rs59540338||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||AAAAAAA|AAAAAAA|||18|chrX:g.2757990_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+5655_61+5661del|||||||rs59540338||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||AAAAAAA|AAAAAAA|||18|chrX:g.2757990_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+5655_61+5661del|||||||rs59540338||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||AAAAAAA|AAAAAAA|||18|chrX:g.2757990_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+5655_61+5661del|||||||rs59540338||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||AAAAAAA|AAAAAAA|||18|chrX:g.2757990_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+5655_61+5661del|||||||rs59540338||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||AAAAAAA|AAAAAAA|||18|chrX:g.2757990_2757996del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15100;gnomADv4_1_AC_joint_XX=8532;gnomADv4_1_AC_joint_XY=6568;gnomADv4_1_AF_grpmax_joint=0.45711;gnomADv4_1_AF_joint=0.171396;gnomADv4_1_AF_joint_XX=0.172972;gnomADv4_1_AF_joint_XY=0.169392;gnomADv4_1_AN_grpmax_joint=2588;gnomADv4_1_AN_joint=88100;gnomADv4_1_AN_joint_XX=49326;gnomADv4_1_AN_joint_XY=38774;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1043;gnomADv4_1_nhomalt_joint_XX=558;gnomADv4_1_nhomalt_joint_XY=485;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2757971 chrX_2757971_CAAAAAAA_C;chrX_2757971_CAAAAAAAAAAAAA_C CAAAAAAAAAAAAA C 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=38;CADDIndel_PHREDscore=0.497;CADDIndel_Rawscore=-0.194646;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+5649_61+5661del|||||||rs59540338||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||AAAAAAAAAAAAA|AAAAAAAAAAAAA|||12|chrX:g.2757984_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+5649_61+5661del|||||||rs59540338||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||AAAAAAAAAAAAA|AAAAAAAAAAAAA|||12|chrX:g.2757984_2757996del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+5649_40+5661del|||||||rs59540338||1||HGNC|HGNC:12806|1||||||||Ensembl||AAAAAAAAAAAAA|AAAAAAAAAAAAA|||12|chrX:g.2757984_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+5649_61+5661del|||||||rs59540338||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||AAAAAAAAAAAAA|AAAAAAAAAAAAA|||12|chrX:g.2757984_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+5649_61+5661del|||||||rs59540338||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||AAAAAAAAAAAAA|AAAAAAAAAAAAA|||12|chrX:g.2757984_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+5649_61+5661del|||||||rs59540338||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||AAAAAAAAAAAAA|AAAAAAAAAAAAA|||12|chrX:g.2757984_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+5649_61+5661del|||||||rs59540338||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||AAAAAAAAAAAAA|AAAAAAAAAAAAA|||12|chrX:g.2757984_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+5649_61+5661del|||||||rs59540338||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||AAAAAAAAAAAAA|AAAAAAAAAAAAA|||12|chrX:g.2757984_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+5649_61+5661del|||||||rs59540338||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||AAAAAAAAAAAAA|AAAAAAAAAAAAA|||12|chrX:g.2757984_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+5649_61+5661del|||||||rs59540338||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||AAAAAAAAAAAAA|AAAAAAAAAAAAA|||12|chrX:g.2757984_2757996del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+5649_61+5661del|||||||rs59540338||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||AAAAAAAAAAAAA|AAAAAAAAAAAAA|||12|chrX:g.2757984_2757996del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=25553;gnomADv4_1_AC_joint_XX=15212;gnomADv4_1_AC_joint_XY=10341;gnomADv4_1_AF_grpmax_joint=0.358108;gnomADv4_1_AF_joint=0.284999;gnomADv4_1_AF_joint_XX=0.302522;gnomADv4_1_AF_joint_XY=0.262622;gnomADv4_1_AN_grpmax_joint=148;gnomADv4_1_AN_joint=89660;gnomADv4_1_AN_joint_XX=50284;gnomADv4_1_AN_joint_XY=39376;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2798;gnomADv4_1_nhomalt_joint_XX=1799;gnomADv4_1_nhomalt_joint_XY=999;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2758119 chrX_2758119_T_C T C 53 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.772;CADD_Rawscore=0.131906;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+5784T>C|||||||rs312232||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2758119T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+5784T>C|||||||rs312232||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2758119T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+5784T>C|||||||rs312232||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2758119T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+5784T>C|||||||rs312232||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2758119T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+5784T>C|||||||rs312232||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2758119T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+5784T>C|||||||rs312232||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2758119T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+5784T>C|||||||rs312232||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2758119T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+5784T>C|||||||rs312232||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2758119T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+5784T>C|||||||rs312232||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2758119T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+5784T>C|||||||rs312232||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2758119T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+5784T>C|||||||rs312232||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2758119T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|47|40|-36|-30;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98238;gnomADv4_1_AC_joint_XX=49011;gnomADv4_1_AC_joint_XY=49227;gnomADv4_1_AF_grpmax_joint=0.780768;gnomADv4_1_AF_joint=0.647163;gnomADv4_1_AF_joint_XX=0.631162;gnomADv4_1_AF_joint_XY=0.66392;gnomADv4_1_AN_grpmax_joint=4794;gnomADv4_1_AN_joint=151798;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=74146;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=34524;gnomADv4_1_nhomalt_joint_XX=16850;gnomADv4_1_nhomalt_joint_XY=17674;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chrX 2758874 chrX_2758874_C_G C G 58 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=58;CADD_PHREDscore=0.183;CADD_Rawscore=-0.450472;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+6539C>G|||||||rs311115||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2758874C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+6539C>G|||||||rs311115||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2758874C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+6539C>G|||||||rs311115||1||HGNC|HGNC:12806|1||||||||Ensembl||C|C||||chrX:g.2758874C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+6539C>G|||||||rs311115||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2758874C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+6539C>G|||||||rs311115||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2758874C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+6539C>G|||||||rs311115||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2758874C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+6539C>G|||||||rs311115||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2758874C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+6539C>G|||||||rs311115||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2758874C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+6539C>G|||||||rs311115||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2758874C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+6539C>G|||||||rs311115||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2758874C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+6539C>G|||||||rs311115||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2758874C>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|-28|3|47|-29;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=136020;gnomADv4_1_AC_joint_XX=68942;gnomADv4_1_AC_joint_XY=67078;gnomADv4_1_AF_grpmax_joint=0.91853;gnomADv4_1_AF_joint=0.893528;gnomADv4_1_AF_joint_XX=0.886076;gnomADv4_1_AF_joint_XY=0.90132;gnomADv4_1_AN_grpmax_joint=15294;gnomADv4_1_AN_joint=152228;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=74422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=61052;gnomADv4_1_nhomalt_joint_XX=30649;gnomADv4_1_nhomalt_joint_XY=30403;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2758956 chrX_2758956_T_TTATC T TTATC 45 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.274;CADDIndel_Rawscore=-0.344871;CSQ=TATC|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+6627_61+6630dup|||||||rs10660578||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||9|chrX:g.2758962_2758965dup|||||||||||||,TATC|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+6627_61+6630dup|||||||rs10660578||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||9|chrX:g.2758962_2758965dup|||||||||||||,TATC|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+6627_40+6630dup|||||||rs10660578||1||HGNC|HGNC:12806|1||||||||Ensembl||||||9|chrX:g.2758962_2758965dup|||||||||||||,TATC|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+6627_61+6630dup|||||||rs10660578||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||9|chrX:g.2758962_2758965dup|||||||||||||,TATC|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+6627_61+6630dup|||||||rs10660578||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||9|chrX:g.2758962_2758965dup|||||||||||||,TATC|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+6627_61+6630dup|||||||rs10660578||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||9|chrX:g.2758962_2758965dup|||||||||||||,TATC|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+6627_61+6630dup|||||||rs10660578||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||9|chrX:g.2758962_2758965dup|||||||||||||,TATC|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+6627_61+6630dup|||||||rs10660578||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||9|chrX:g.2758962_2758965dup|||||||||||||,TATC|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+6627_61+6630dup|||||||rs10660578||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||9|chrX:g.2758962_2758965dup|||||||||||||,TATC|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+6627_61+6630dup|||||||rs10660578||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||9|chrX:g.2758962_2758965dup|||||||||||||,TATC|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+6627_61+6630dup|||||||rs10660578||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||9|chrX:g.2758962_2758965dup|||||||||||||;TYPE=INDEL;VEP_Allele=TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=135456;gnomADv4_1_AC_joint_XX=68619;gnomADv4_1_AC_joint_XY=66837;gnomADv4_1_AF_grpmax_joint=0.92143;gnomADv4_1_AF_joint=0.891968;gnomADv4_1_AF_joint_XX=0.883833;gnomADv4_1_AF_joint_XY=0.900477;gnomADv4_1_AN_grpmax_joint=67952;gnomADv4_1_AN_joint=151862;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=74224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=60733;gnomADv4_1_nhomalt_joint_XX=30462;gnomADv4_1_nhomalt_joint_XY=30271;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2759032 chrX_2759032_GTATC_G GTATC G 50 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.42;CADDIndel_Rawscore=-0.236738;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+6706_61+6709del|||||||rs67832381||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||TATC|TATC|||8|chrX:g.2759041_2759044del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+6706_61+6709del|||||||rs67832381||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||TATC|TATC|||8|chrX:g.2759041_2759044del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+6706_40+6709del|||||||rs67832381||1||HGNC|HGNC:12806|1||||||||Ensembl||TATC|TATC|||8|chrX:g.2759041_2759044del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+6706_61+6709del|||||||rs67832381||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||TATC|TATC|||8|chrX:g.2759041_2759044del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+6706_61+6709del|||||||rs67832381||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||TATC|TATC|||8|chrX:g.2759041_2759044del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+6706_61+6709del|||||||rs67832381||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||TATC|TATC|||8|chrX:g.2759041_2759044del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+6706_61+6709del|||||||rs67832381||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||TATC|TATC|||8|chrX:g.2759041_2759044del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+6706_61+6709del|||||||rs67832381||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||TATC|TATC|||8|chrX:g.2759041_2759044del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+6706_61+6709del|||||||rs67832381||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||TATC|TATC|||8|chrX:g.2759041_2759044del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+6706_61+6709del|||||||rs67832381||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||TATC|TATC|||8|chrX:g.2759041_2759044del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+6706_61+6709del|||||||rs67832381||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||TATC|TATC|||8|chrX:g.2759041_2759044del|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|47|44|-13|-25;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=135130;gnomADv4_1_AC_joint_XX=68422;gnomADv4_1_AC_joint_XY=66708;gnomADv4_1_AF_grpmax_joint=0.922198;gnomADv4_1_AF_joint=0.890267;gnomADv4_1_AF_joint_XX=0.881318;gnomADv4_1_AF_joint_XY=0.899636;gnomADv4_1_AN_grpmax_joint=67916;gnomADv4_1_AN_joint=151786;gnomADv4_1_AN_joint_XX=77636;gnomADv4_1_AN_joint_XY=74150;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=60462;gnomADv4_1_nhomalt_joint_XX=30284;gnomADv4_1_nhomalt_joint_XY=30178;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2759050 chrX_2759050_G_A G A 48 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.363;CADD_Rawscore=-0.273911;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+6715G>A|||||||rs311116||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2759050G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+6715G>A|||||||rs311116||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2759050G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+6715G>A|||||||rs311116||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2759050G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+6715G>A|||||||rs311116||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2759050G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+6715G>A|||||||rs311116||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2759050G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+6715G>A|||||||rs311116||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2759050G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+6715G>A|||||||rs311116||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2759050G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+6715G>A|||||||rs311116||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2759050G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+6715G>A|||||||rs311116||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2759050G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+6715G>A|||||||rs311116||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2759050G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+6715G>A|||||||rs311116||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2759050G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|26|-49|26|47;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=135345;gnomADv4_1_AC_joint_XX=68490;gnomADv4_1_AC_joint_XY=66855;gnomADv4_1_AF_grpmax_joint=0.922216;gnomADv4_1_AF_joint=0.890592;gnomADv4_1_AF_joint_XX=0.88174;gnomADv4_1_AF_joint_XY=0.899847;gnomADv4_1_AN_grpmax_joint=67970;gnomADv4_1_AN_joint=151972;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=74296;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=60566;gnomADv4_1_nhomalt_joint_XX=30317;gnomADv4_1_nhomalt_joint_XY=30249;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2759093 chrX_2759093_G_A G A 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.629;CADD_Rawscore=-0.135745;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+6758G>A|||||||rs311117||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2759093G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+6758G>A|||||||rs311117||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2759093G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+6758G>A|||||||rs311117||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2759093G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+6758G>A|||||||rs311117||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2759093G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+6758G>A|||||||rs311117||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2759093G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+6758G>A|||||||rs311117||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2759093G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+6758G>A|||||||rs311117||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2759093G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+6758G>A|||||||rs311117||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2759093G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+6758G>A|||||||rs311117||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2759093G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+6758G>A|||||||rs311117||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2759093G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+6758G>A|||||||rs311117||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2759093G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|22|-17|4|-17;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=135392;gnomADv4_1_AC_joint_XX=68507;gnomADv4_1_AC_joint_XY=66885;gnomADv4_1_AF_grpmax_joint=0.92224;gnomADv4_1_AF_joint=0.890444;gnomADv4_1_AF_joint_XX=0.881414;gnomADv4_1_AF_joint_XY=0.899887;gnomADv4_1_AN_grpmax_joint=67978;gnomADv4_1_AN_joint=152050;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=60583;gnomADv4_1_nhomalt_joint_XX=30322;gnomADv4_1_nhomalt_joint_XY=30261;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2759094 chrX_2759094_T_C T C 53 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=3.409;CADD_Rawscore=0.312499;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+6759T>C|||||||rs115185219||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2759094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+6759T>C|||||||rs115185219||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2759094T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+6759T>C|||||||rs115185219||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2759094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+6759T>C|||||||rs115185219||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2759094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+6759T>C|||||||rs115185219||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2759094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+6759T>C|||||||rs115185219||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2759094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+6759T>C|||||||rs115185219||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2759094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+6759T>C|||||||rs115185219||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2759094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+6759T>C|||||||rs115185219||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2759094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+6759T>C|||||||rs115185219||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2759094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+6759T>C|||||||rs115185219||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2759094T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-18|21|39|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12730;gnomADv4_1_AC_joint_XX=7702;gnomADv4_1_AC_joint_XY=5028;gnomADv4_1_AF_grpmax_joint=0.119048;gnomADv4_1_AF_joint=0.0836246;gnomADv4_1_AF_joint_XX=0.0990254;gnomADv4_1_AF_joint_XY=0.0675353;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152228;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74450;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=597;gnomADv4_1_nhomalt_joint_XX=421;gnomADv4_1_nhomalt_joint_XY=176;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2759113 chrX_2759113_A_T A T 46 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.69;CADD_Rawscore=0.119538;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+6778A>T|||||||rs311118||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2759113A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+6778A>T|||||||rs311118||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2759113A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+6778A>T|||||||rs311118||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2759113A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+6778A>T|||||||rs311118||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2759113A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+6778A>T|||||||rs311118||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2759113A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+6778A>T|||||||rs311118||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2759113A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+6778A>T|||||||rs311118||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2759113A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+6778A>T|||||||rs311118||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2759113A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+6778A>T|||||||rs311118||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2759113A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+6778A>T|||||||rs311118||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2759113A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+6778A>T|||||||rs311118||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2759113A>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|-37|2|-37|35;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=135382;gnomADv4_1_AC_joint_XX=68507;gnomADv4_1_AC_joint_XY=66875;gnomADv4_1_AF_grpmax_joint=0.922237;gnomADv4_1_AF_joint=0.890331;gnomADv4_1_AF_joint_XX=0.88121;gnomADv4_1_AF_joint_XY=0.899874;gnomADv4_1_AN_grpmax_joint=67976;gnomADv4_1_AN_joint=152058;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74316;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=60576;gnomADv4_1_nhomalt_joint_XX=30319;gnomADv4_1_nhomalt_joint_XY=30257;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2759121 chrX_2759121_T_C T C 47 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.664;CADD_Rawscore=-0.122092;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+6786T>C|||||||rs311119||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2759121T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+6786T>C|||||||rs311119||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2759121T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+6786T>C|||||||rs311119||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2759121T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+6786T>C|||||||rs311119||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2759121T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+6786T>C|||||||rs311119||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2759121T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+6786T>C|||||||rs311119||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2759121T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+6786T>C|||||||rs311119||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2759121T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+6786T>C|||||||rs311119||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2759121T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+6786T>C|||||||rs311119||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2759121T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+6786T>C|||||||rs311119||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2759121T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+6786T>C|||||||rs311119||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2759121T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-45|-2|44|1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=135448;gnomADv4_1_AC_joint_XX=68554;gnomADv4_1_AC_joint_XY=66894;gnomADv4_1_AF_grpmax_joint=0.922395;gnomADv4_1_AF_joint=0.890836;gnomADv4_1_AF_joint_XX=0.881814;gnomADv4_1_AF_joint_XY=0.900275;gnomADv4_1_AN_grpmax_joint=67972;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74304;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=60639;gnomADv4_1_nhomalt_joint_XX=30359;gnomADv4_1_nhomalt_joint_XY=30280;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2759132 chrX_2759132_G_A G A 50 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=0.378;CADD_Rawscore=-0.263327;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+6797G>A|||||||rs311120||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2759132G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+6797G>A|||||||rs311120||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2759132G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+6797G>A|||||||rs311120||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2759132G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+6797G>A|||||||rs311120||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2759132G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+6797G>A|||||||rs311120||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2759132G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+6797G>A|||||||rs311120||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2759132G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+6797G>A|||||||rs311120||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2759132G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+6797G>A|||||||rs311120||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2759132G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+6797G>A|||||||rs311120||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2759132G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+6797G>A|||||||rs311120||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2759132G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+6797G>A|||||||rs311120||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2759132G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|38|-17|1|33;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=121336;gnomADv4_1_AC_joint_XX=60038;gnomADv4_1_AC_joint_XY=61298;gnomADv4_1_AF_grpmax_joint=0.843517;gnomADv4_1_AF_joint=0.798022;gnomADv4_1_AF_joint_XX=0.772213;gnomADv4_1_AF_joint_XY=0.825029;gnomADv4_1_AN_grpmax_joint=15286;gnomADv4_1_AN_joint=152046;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=48602;gnomADv4_1_nhomalt_joint_XX=23290;gnomADv4_1_nhomalt_joint_XY=25312;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chrX 2759317 chrX_2759317_A_G A G 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.26;CADD_Rawscore=0.042301;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+6982A>G|||||||rs66607823||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2759317A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+6982A>G|||||||rs66607823||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2759317A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+6982A>G|||||||rs66607823||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2759317A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+6982A>G|||||||rs66607823||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2759317A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+6982A>G|||||||rs66607823||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2759317A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+6982A>G|||||||rs66607823||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2759317A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+6982A>G|||||||rs66607823||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2759317A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+6982A>G|||||||rs66607823||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2759317A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+6982A>G|||||||rs66607823||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2759317A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+6982A>G|||||||rs66607823||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2759317A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+6982A>G|||||||rs66607823||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2759317A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|29|-8|28|-8;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26436;gnomADv4_1_AC_joint_XX=14024;gnomADv4_1_AC_joint_XY=12412;gnomADv4_1_AF_grpmax_joint=0.382262;gnomADv4_1_AF_joint=0.173736;gnomADv4_1_AF_joint_XX=0.180392;gnomADv4_1_AF_joint_XY=0.166783;gnomADv4_1_AN_grpmax_joint=41448;gnomADv4_1_AN_joint=152162;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3603;gnomADv4_1_nhomalt_joint_XX=1809;gnomADv4_1_nhomalt_joint_XY=1794;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2759370 chrX_2759370_G_A G A 26 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=26;CADD_PHREDscore=0.356;CADD_Rawscore=-0.278608;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+7035G>A|||||||rs6655897||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2759370G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+7035G>A|||||||rs6655897||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2759370G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+7035G>A|||||||rs6655897||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2759370G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+7035G>A|||||||rs6655897||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2759370G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+7035G>A|||||||rs6655897||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2759370G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+7035G>A|||||||rs6655897||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2759370G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+7035G>A|||||||rs6655897||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2759370G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+7035G>A|||||||rs6655897||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2759370G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+7035G>A|||||||rs6655897||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2759370G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+7035G>A|||||||rs6655897||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2759370G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+7035G>A|||||||rs6655897||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2759370G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|-25|-24|2|9;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32123;gnomADv4_1_AC_joint_XX=17418;gnomADv4_1_AC_joint_XY=14705;gnomADv4_1_AF_grpmax_joint=0.487747;gnomADv4_1_AF_joint=0.211581;gnomADv4_1_AF_joint_XX=0.224476;gnomADv4_1_AF_joint_XY=0.1981;gnomADv4_1_AN_grpmax_joint=41376;gnomADv4_1_AN_joint=151824;gnomADv4_1_AN_joint_XX=77594;gnomADv4_1_AN_joint_XY=74230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5645;gnomADv4_1_nhomalt_joint_XX=2973;gnomADv4_1_nhomalt_joint_XY=2672;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2759819 chrX_2759819_A_T A T 26 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=26;CADD_PHREDscore=0.544;CADD_Rawscore=-0.171928;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+7484A>T|||||||rs6655900||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2759819A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+7484A>T|||||||rs6655900||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2759819A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+7484A>T|||||||rs6655900||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2759819A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+7484A>T|||||||rs6655900||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2759819A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+7484A>T|||||||rs6655900||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2759819A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+7484A>T|||||||rs6655900||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2759819A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+7484A>T|||||||rs6655900||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2759819A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+7484A>T|||||||rs6655900||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2759819A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+7484A>T|||||||rs6655900||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2759819A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+7484A>T|||||||rs6655900||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2759819A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+7484A>T|||||||rs6655900||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2759819A>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|31|-22|31|-23;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30532;gnomADv4_1_AC_joint_XX=16791;gnomADv4_1_AC_joint_XY=13741;gnomADv4_1_AF_grpmax_joint=0.472288;gnomADv4_1_AF_joint=0.200597;gnomADv4_1_AF_joint_XX=0.215878;gnomADv4_1_AF_joint_XY=0.184626;gnomADv4_1_AN_grpmax_joint=41498;gnomADv4_1_AN_joint=152206;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=74426;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5226;gnomADv4_1_nhomalt_joint_XX=2828;gnomADv4_1_nhomalt_joint_XY=2398;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2759955 chrX_2759955_T_TCTGCATGTGGC T TCTGCATGTGGC 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.959;CADDIndel_Rawscore=-0.0286;CSQ=CTGCATGTGGC|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+7621_61+7622insTGCATGTGGCC|||||||rs11271325||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||1|chrX:g.2759956_2759957insTGCATGTGGCC|||||||||||||,CTGCATGTGGC|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+7621_61+7622insTGCATGTGGCC|||||||rs11271325||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||1|chrX:g.2759956_2759957insTGCATGTGGCC|||||||||||||,CTGCATGTGGC|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+7621_40+7622insTGCATGTGGCC|||||||rs11271325||1||HGNC|HGNC:12806|1||||||||Ensembl||||||1|chrX:g.2759956_2759957insTGCATGTGGCC|||||||||||||,CTGCATGTGGC|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+7621_61+7622insTGCATGTGGCC|||||||rs11271325||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||1|chrX:g.2759956_2759957insTGCATGTGGCC|||||||||||||,CTGCATGTGGC|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+7621_61+7622insTGCATGTGGCC|||||||rs11271325||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||1|chrX:g.2759956_2759957insTGCATGTGGCC|||||||||||||,CTGCATGTGGC|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+7621_61+7622insTGCATGTGGCC|||||||rs11271325||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||1|chrX:g.2759956_2759957insTGCATGTGGCC|||||||||||||,CTGCATGTGGC|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+7621_61+7622insTGCATGTGGCC|||||||rs11271325||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||1|chrX:g.2759956_2759957insTGCATGTGGCC|||||||||||||,CTGCATGTGGC|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+7621_61+7622insTGCATGTGGCC|||||||rs11271325||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||1|chrX:g.2759956_2759957insTGCATGTGGCC|||||||||||||,CTGCATGTGGC|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+7621_61+7622insTGCATGTGGCC|||||||rs11271325||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||1|chrX:g.2759956_2759957insTGCATGTGGCC|||||||||||||,CTGCATGTGGC|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+7621_61+7622insTGCATGTGGCC|||||||rs11271325||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||1|chrX:g.2759956_2759957insTGCATGTGGCC|||||||||||||,CTGCATGTGGC|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+7621_61+7622insTGCATGTGGCC|||||||rs11271325||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||1|chrX:g.2759956_2759957insTGCATGTGGCC|||||||||||||;TYPE=INDEL;VEP_Allele=CTGCATGTGGC,CTGCATGTGGC,CTGCATGTGGC,CTGCATGTGGC,CTGCATGTGGC,CTGCATGTGGC,CTGCATGTGGC,CTGCATGTGGC,CTGCATGTGGC,CTGCATGTGGC,CTGCATGTGGC;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50013;gnomADv4_1_AC_joint_XX=27303;gnomADv4_1_AC_joint_XY=22710;gnomADv4_1_AF_grpmax_joint=0.599464;gnomADv4_1_AF_joint=0.32899;gnomADv4_1_AF_joint_XX=0.351336;gnomADv4_1_AF_joint_XY=0.30562;gnomADv4_1_AN_grpmax_joint=41402;gnomADv4_1_AN_joint=152020;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74308;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10480;gnomADv4_1_nhomalt_joint_XX=5880;gnomADv4_1_nhomalt_joint_XY=4600;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2760124 chrX_2760124_G_A G A 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=3.259;CADD_Rawscore=0.298778;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+7789G>A|||||||rs111436368||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2760124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+7789G>A|||||||rs111436368||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2760124G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+7789G>A|||||||rs111436368||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2760124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+7789G>A|||||||rs111436368||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2760124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+7789G>A|||||||rs111436368||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2760124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+7789G>A|||||||rs111436368||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2760124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+7789G>A|||||||rs111436368||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2760124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+7789G>A|||||||rs111436368||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2760124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+7789G>A|||||||rs111436368||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2760124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+7789G>A|||||||rs111436368||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2760124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+7789G>A|||||||rs111436368||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2760124G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|40|-1|-3|40;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13409;gnomADv4_1_AC_joint_XX=8046;gnomADv4_1_AC_joint_XY=5363;gnomADv4_1_AF_grpmax_joint=0.110846;gnomADv4_1_AF_joint=0.088231;gnomADv4_1_AF_joint_XX=0.103549;gnomADv4_1_AF_joint_XY=0.0722056;gnomADv4_1_AN_grpmax_joint=67950;gnomADv4_1_AN_joint=151976;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=631;gnomADv4_1_nhomalt_joint_XX=467;gnomADv4_1_nhomalt_joint_XY=164;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2760734 chrX_2760734_CA_C CA C 41 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=41;CADDIndel_PHREDscore=0.927;CADDIndel_Rawscore=-0.037264;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+8421del|||||||rs60707389||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A|||21|chrX:g.2760756del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+8421del|||||||rs60707389||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A|||21|chrX:g.2760756del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+8421del|||||||rs60707389||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A|||21|chrX:g.2760756del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+8421del|||||||rs60707389||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A|||21|chrX:g.2760756del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+8421del|||||||rs60707389||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A|||21|chrX:g.2760756del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+8421del|||||||rs60707389||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A|||21|chrX:g.2760756del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+8421del|||||||rs60707389||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A|||21|chrX:g.2760756del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+8421del|||||||rs60707389||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A|||21|chrX:g.2760756del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+8421del|||||||rs60707389||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A|||21|chrX:g.2760756del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+8421del|||||||rs60707389||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A|||21|chrX:g.2760756del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+8421del|||||||rs60707389||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A|||21|chrX:g.2760756del|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|50|24|25|-10;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35715;gnomADv4_1_AC_joint_XX=18808;gnomADv4_1_AC_joint_XY=16907;gnomADv4_1_AF_grpmax_joint=0.631259;gnomADv4_1_AF_joint=0.526273;gnomADv4_1_AF_joint_XX=0.503831;gnomADv4_1_AF_joint_XY=0.553711;gnomADv4_1_AN_grpmax_joint=5432;gnomADv4_1_AN_joint=67864;gnomADv4_1_AN_joint_XX=37330;gnomADv4_1_AN_joint_XY=30534;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=6557;gnomADv4_1_nhomalt_joint_XX=3093;gnomADv4_1_nhomalt_joint_XY=3464;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2761052 chrX_2761052_T_C T C 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=3.926;CADD_Rawscore=0.358648;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.61+8717T>C|||||||rs312231||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2761052T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+8717T>C|||||||rs312231||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2761052T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.40+8717T>C|||||||rs312231||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2761052T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+8717T>C|||||||rs312231||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2761052T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.61+8717T>C|||||||rs312231||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2761052T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.61+8717T>C|||||||rs312231||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2761052T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.61+8717T>C|||||||rs312231||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2761052T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.61+8717T>C|||||||rs312231||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2761052T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.61+8717T>C|||||||rs312231||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2761052T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.61+8717T>C|||||||rs312231||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2761052T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+8717T>C|||||||rs312231||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2761052T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-22|17|26|-47;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=94969;gnomADv4_1_AC_joint_XX=46702;gnomADv4_1_AC_joint_XY=48267;gnomADv4_1_AF_grpmax_joint=0.811799;gnomADv4_1_AF_joint=0.625067;gnomADv4_1_AF_joint_XX=0.60104;gnomADv4_1_AF_joint_XY=0.650218;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=151934;gnomADv4_1_AN_joint_XX=77702;gnomADv4_1_AN_joint_XY=74232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=31121;gnomADv4_1_nhomalt_joint_XX=14694;gnomADv4_1_nhomalt_joint_XY=16427;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2761647 chrX_2761647_T_A T A 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=1.144;CADD_Rawscore=0.017227;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-8903T>A|||||||rs760013177||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2761647T>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+9312T>A|||||||rs760013177||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2761647T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-8903T>A|||||||rs760013177||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2761647T>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+9312T>A|||||||rs760013177||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2761647T>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-8903T>A|||||||rs760013177||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2761647T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-8903T>A|||||||rs760013177||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2761647T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-8903T>A|||||||rs760013177||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2761647T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-8903T>A|||||||rs760013177||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2761647T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-8903T>A|||||||rs760013177||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2761647T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-8903T>A|||||||rs760013177||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2761647T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+9312T>A|||||||rs760013177||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2761647T>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|38|10|-7|23;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=352;gnomADv4_1_AC_joint_XX=193;gnomADv4_1_AC_joint_XY=159;gnomADv4_1_AF_grpmax_joint=0.00210003;gnomADv4_1_AF_joint=0.00233881;gnomADv4_1_AF_joint_XX=0.00250584;gnomADv4_1_AF_joint_XY=0.00216374;gnomADv4_1_AN_grpmax_joint=67618;gnomADv4_1_AN_joint=150504;gnomADv4_1_AN_joint_XX=77020;gnomADv4_1_AN_joint_XY=73484;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2762258 chrX_2762258_T_G T G 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=1.879;CADD_Rawscore=0.147441;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-8292T>G|||||||rs311123||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2762258T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+9923T>G|||||||rs311123||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2762258T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-8292T>G|||||||rs311123||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2762258T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+9923T>G|||||||rs311123||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2762258T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-8292T>G|||||||rs311123||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2762258T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-8292T>G|||||||rs311123||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2762258T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-8292T>G|||||||rs311123||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2762258T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-8292T>G|||||||rs311123||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2762258T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-8292T>G|||||||rs311123||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2762258T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-8292T>G|||||||rs311123||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2762258T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+9923T>G|||||||rs311123||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2762258T>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|-13|8|0|40;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=116347;gnomADv4_1_AC_joint_XX=56712;gnomADv4_1_AC_joint_XY=59635;gnomADv4_1_AF_grpmax_joint=0.927578;gnomADv4_1_AF_joint=0.765249;gnomADv4_1_AF_joint_XX=0.729696;gnomADv4_1_AF_joint_XY=0.80243;gnomADv4_1_AN_grpmax_joint=5178;gnomADv4_1_AN_joint=152038;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74318;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=45281;gnomADv4_1_nhomalt_joint_XX=21274;gnomADv4_1_nhomalt_joint_XY=24007;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2762730 chrX_2762730_A_G A G 56 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=56;CADD_PHREDscore=2.069;CADD_Rawscore=0.172947;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-7820A>G|||||||rs311124||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2762730A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+10395A>G|||||||rs311124||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2762730A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-7820A>G|||||||rs311124||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2762730A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+10395A>G|||||||rs311124||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2762730A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-7820A>G|||||||rs311124||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2762730A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-7820A>G|||||||rs311124||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2762730A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-7820A>G|||||||rs311124||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2762730A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-7820A>G|||||||rs311124||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2762730A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-7820A>G|||||||rs311124||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2762730A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-7820A>G|||||||rs311124||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2762730A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+10395A>G|||||||rs311124||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2762730A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|38|15|13|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=121138;gnomADv4_1_AC_joint_XX=59507;gnomADv4_1_AC_joint_XY=61631;gnomADv4_1_AF_grpmax_joint=0.932651;gnomADv4_1_AF_joint=0.795986;gnomADv4_1_AF_joint_XX=0.765088;gnomADv4_1_AF_joint_XY=0.828285;gnomADv4_1_AN_grpmax_joint=5182;gnomADv4_1_AN_joint=152186;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=74408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=48432;gnomADv4_1_nhomalt_joint_XX=22979;gnomADv4_1_nhomalt_joint_XY=25453;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2763165 chrX_2763165_C_CACCA C CACCA 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADDIndel_PHREDscore=0.249;CADDIndel_Rawscore=-0.369432;CSQ=ACCA|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-7384_62-7381dup|||||||rs758550686||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||4|chrX:g.2763166_2763169dup|||||||||||||,ACCA|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+10831_61+10834dup|||||||rs758550686||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||4|chrX:g.2763166_2763169dup|||||||||||||,ACCA|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-7384_41-7381dup|||||||rs758550686||1||HGNC|HGNC:12806|1||||||||Ensembl||||||4|chrX:g.2763166_2763169dup|||||||||||||,ACCA|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+10831_61+10834dup|||||||rs758550686||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||4|chrX:g.2763166_2763169dup|||||||||||||,ACCA|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-7384_62-7381dup|||||||rs758550686||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||4|chrX:g.2763166_2763169dup|||||||||||||,ACCA|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-7384_62-7381dup|||||||rs758550686||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||4|chrX:g.2763166_2763169dup|||||||||||||,ACCA|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-7384_62-7381dup|||||||rs758550686||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||4|chrX:g.2763166_2763169dup|||||||||||||,ACCA|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-7384_62-7381dup|||||||rs758550686||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||4|chrX:g.2763166_2763169dup|||||||||||||,ACCA|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-7384_62-7381dup|||||||rs758550686||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||4|chrX:g.2763166_2763169dup|||||||||||||,ACCA|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-7384_62-7381dup|||||||rs758550686||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||4|chrX:g.2763166_2763169dup|||||||||||||,ACCA|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+10831_61+10834dup|||||||rs758550686||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||4|chrX:g.2763166_2763169dup|||||||||||||;TYPE=INDEL;VEP_Allele=ACCA,ACCA,ACCA,ACCA,ACCA,ACCA,ACCA,ACCA,ACCA,ACCA,ACCA;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9945;gnomADv4_1_AC_joint_XX=5176;gnomADv4_1_AC_joint_XY=4769;gnomADv4_1_AF_grpmax_joint=0.321665;gnomADv4_1_AF_joint=0.0653683;gnomADv4_1_AF_joint_XX=0.066545;gnomADv4_1_AF_joint_XY=0.0641374;gnomADv4_1_AN_grpmax_joint=5142;gnomADv4_1_AN_joint=152138;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=74356;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=609;gnomADv4_1_nhomalt_joint_XX=277;gnomADv4_1_nhomalt_joint_XY=332;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2763471 chrX_2763471_A_G A G 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=1.885;CADD_Rawscore=0.148229;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-7079A>G|||||||rs311125||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2763471A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+11136A>G|||||||rs311125||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2763471A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-7079A>G|||||||rs311125||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2763471A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+11136A>G|||||||rs311125||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2763471A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-7079A>G|||||||rs311125||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2763471A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-7079A>G|||||||rs311125||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2763471A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-7079A>G|||||||rs311125||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2763471A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-7079A>G|||||||rs311125||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2763471A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-7079A>G|||||||rs311125||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2763471A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-7079A>G|||||||rs311125||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2763471A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+11136A>G|||||||rs311125||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2763471A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|26|49|-28|-3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=93986;gnomADv4_1_AC_joint_XX=50840;gnomADv4_1_AC_joint_XY=43146;gnomADv4_1_AF_grpmax_joint=0.926132;gnomADv4_1_AF_joint=0.638822;gnomADv4_1_AF_joint_XX=0.66974;gnomADv4_1_AF_joint_XY=0.605864;gnomADv4_1_AN_grpmax_joint=5036;gnomADv4_1_AN_joint=147124;gnomADv4_1_AN_joint_XX=75910;gnomADv4_1_AN_joint_XY=71214;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=31706;gnomADv4_1_nhomalt_joint_XX=18029;gnomADv4_1_nhomalt_joint_XY=13677;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2763510 chrX_2763510_C_G C G 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.216;CADD_Rawscore=0.033083;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-7040C>G|||||||rs311126||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2763510C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+11175C>G|||||||rs311126||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2763510C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-7040C>G|||||||rs311126||1||HGNC|HGNC:12806|1||||||||Ensembl||C|C||||chrX:g.2763510C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+11175C>G|||||||rs311126||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2763510C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-7040C>G|||||||rs311126||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2763510C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-7040C>G|||||||rs311126||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2763510C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-7040C>G|||||||rs311126||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2763510C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-7040C>G|||||||rs311126||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2763510C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-7040C>G|||||||rs311126||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2763510C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-7040C>G|||||||rs311126||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2763510C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.61+11175C>G|||||||rs311126||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2763510C>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|1|-13|0|-10;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=101514;gnomADv4_1_AC_joint_XX=55075;gnomADv4_1_AC_joint_XY=46439;gnomADv4_1_AF_grpmax_joint=0.903335;gnomADv4_1_AF_joint=0.67603;gnomADv4_1_AF_joint_XX=0.715093;gnomADv4_1_AF_joint_XY=0.634898;gnomADv4_1_AN_grpmax_joint=5038;gnomADv4_1_AN_joint=150162;gnomADv4_1_AN_joint_XX=77018;gnomADv4_1_AN_joint_XY=73144;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=35746;gnomADv4_1_nhomalt_joint_XX=20465;gnomADv4_1_nhomalt_joint_XY=15281;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2763891 chrX_2763891_T_G T G 57 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=5.159;CADD_Rawscore=0.47079;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-6659T>G|||||||rs4892889||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2763891T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+11556T>G|||||||rs4892889||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2763891T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-6659T>G|||||||rs4892889||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2763891T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+11556T>G|||||||rs4892889||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2763891T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-6659T>G|||||||rs4892889||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2763891T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-6659T>G|||||||rs4892889||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2763891T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-6659T>G|||||||rs4892889||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2763891T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-6659T>G|||||||rs4892889||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2763891T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-6659T>G|||||||rs4892889||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2763891T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-6659T>G|||||||rs4892889||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2763891T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-10825T>G|||||||rs4892889||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2763891T>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|-21|23|-1|-2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77302;gnomADv4_1_AC_joint_XX=39242;gnomADv4_1_AC_joint_XY=38060;gnomADv4_1_AF_grpmax_joint=0.872093;gnomADv4_1_AF_joint=0.50933;gnomADv4_1_AF_joint_XX=0.505487;gnomADv4_1_AF_joint_XY=0.513353;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151772;gnomADv4_1_AN_joint_XX=77632;gnomADv4_1_AN_joint_XY=74140;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=20920;gnomADv4_1_nhomalt_joint_XX=10497;gnomADv4_1_nhomalt_joint_XY=10423;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2763977 chrX_2763977_G_A G A 40 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=1.222;CADD_Rawscore=0.034461;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-6573G>A|||||||rs311127||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2763977G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+11642G>A|||||||rs311127||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2763977G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-6573G>A|||||||rs311127||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2763977G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+11642G>A|||||||rs311127||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2763977G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-6573G>A|||||||rs311127||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2763977G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-6573G>A|||||||rs311127||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2763977G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-6573G>A|||||||rs311127||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2763977G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-6573G>A|||||||rs311127||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2763977G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-6573G>A|||||||rs311127||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2763977G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-6573G>A|||||||rs311127||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2763977G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-10739G>A|||||||rs311127||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2763977G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|2|-26|2|39;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=104084;gnomADv4_1_AC_joint_XX=55064;gnomADv4_1_AC_joint_XY=49020;gnomADv4_1_AF_grpmax_joint=0.919698;gnomADv4_1_AF_joint=0.684817;gnomADv4_1_AF_joint_XX=0.708237;gnomADv4_1_AF_joint_XY=0.660291;gnomADv4_1_AN_grpmax_joint=5168;gnomADv4_1_AN_joint=151988;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=74240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=36235;gnomADv4_1_nhomalt_joint_XX=19776;gnomADv4_1_nhomalt_joint_XY=16459;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2764108 chrX_2764108_T_C T C 52 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=1.83;CADD_Rawscore=0.140495;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-6442T>C|||||||rs311128||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2764108T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+11773T>C|||||||rs311128||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2764108T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-6442T>C|||||||rs311128||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2764108T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+11773T>C|||||||rs311128||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2764108T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-6442T>C|||||||rs311128||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2764108T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-6442T>C|||||||rs311128||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2764108T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-6442T>C|||||||rs311128||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2764108T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-6442T>C|||||||rs311128||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2764108T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-6442T>C|||||||rs311128||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2764108T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-6442T>C|||||||rs311128||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2764108T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-10608T>C|||||||rs311128||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2764108T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-47|40|14|-11;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=146485;gnomADv4_1_AC_joint_XX=74446;gnomADv4_1_AC_joint_XY=72039;gnomADv4_1_AF_grpmax_joint=0.996718;gnomADv4_1_AF_joint=0.962008;gnomADv4_1_AF_joint_XX=0.956545;gnomADv4_1_AF_joint_XY=0.96772;gnomADv4_1_AN_grpmax_joint=5180;gnomADv4_1_AN_joint=152270;gnomADv4_1_AN_joint_XX=77828;gnomADv4_1_AN_joint_XY=74442;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70514;gnomADv4_1_nhomalt_joint_XX=35650;gnomADv4_1_nhomalt_joint_XY=34864;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2764135 chrX_2764135_T_G T G 51 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=0.457;CADD_Rawscore=-0.215935;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-6415T>G|||||||rs311129||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2764135T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+11800T>G|||||||rs311129||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2764135T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-6415T>G|||||||rs311129||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2764135T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+11800T>G|||||||rs311129||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2764135T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-6415T>G|||||||rs311129||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2764135T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-6415T>G|||||||rs311129||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2764135T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-6415T>G|||||||rs311129||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2764135T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-6415T>G|||||||rs311129||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2764135T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-6415T>G|||||||rs311129||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2764135T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-6415T>G|||||||rs311129||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2764135T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-10581T>G|||||||rs311129||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2764135T>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|1|16|0|-13;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=146545;gnomADv4_1_AC_joint_XX=74452;gnomADv4_1_AC_joint_XY=72093;gnomADv4_1_AF_grpmax_joint=0.996713;gnomADv4_1_AF_joint=0.962301;gnomADv4_1_AF_joint_XX=0.956696;gnomADv4_1_AF_joint_XY=0.968159;gnomADv4_1_AN_grpmax_joint=5172;gnomADv4_1_AN_joint=152286;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=74464;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=70559;gnomADv4_1_nhomalt_joint_XX=35653;gnomADv4_1_nhomalt_joint_XY=34906;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2764873 chrX_2764873_A_T A T 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=1.669;CADD_Rawscore=0.116202;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-5677A>T|||||||rs2535453||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2764873A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+12538A>T|||||||rs2535453||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2764873A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-5677A>T|||||||rs2535453||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2764873A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+12538A>T|||||||rs2535453||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2764873A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-5677A>T|||||||rs2535453||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2764873A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-5677A>T|||||||rs2535453||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2764873A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-5677A>T|||||||rs2535453||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2764873A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-5677A>T|||||||rs2535453||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2764873A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-5677A>T|||||||rs2535453||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2764873A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-5677A>T|||||||rs2535453||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2764873A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-9843A>T|||||||rs2535453||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2764873A>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|14|49|-14|-4;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19778;gnomADv4_1_AC_joint_XX=11358;gnomADv4_1_AC_joint_XY=8420;gnomADv4_1_AF_grpmax_joint=0.224409;gnomADv4_1_AF_joint=0.136828;gnomADv4_1_AF_joint_XX=0.153089;gnomADv4_1_AF_joint_XY=0.11968;gnomADv4_1_AN_grpmax_joint=254;gnomADv4_1_AN_joint=144546;gnomADv4_1_AN_joint_XX=74192;gnomADv4_1_AN_joint_XY=70354;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1460;gnomADv4_1_nhomalt_joint_XX=965;gnomADv4_1_nhomalt_joint_XY=495;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2764874 chrX_2764874_T_C T C 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADD_PHREDscore=2.348;CADD_Rawscore=0.206751;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-5676T>C|||||||rs575971325||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2764874T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+12539T>C|||||||rs575971325||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2764874T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-5676T>C|||||||rs575971325||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2764874T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+12539T>C|||||||rs575971325||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2764874T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-5676T>C|||||||rs575971325||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2764874T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-5676T>C|||||||rs575971325||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2764874T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-5676T>C|||||||rs575971325||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2764874T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-5676T>C|||||||rs575971325||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2764874T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-5676T>C|||||||rs575971325||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2764874T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-5676T>C|||||||rs575971325||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2764874T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-9842T>C|||||||rs575971325||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2764874T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-41|13|13|-15;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19775;gnomADv4_1_AC_joint_XX=11357;gnomADv4_1_AC_joint_XY=8418;gnomADv4_1_AF_grpmax_joint=0.22619;gnomADv4_1_AF_joint=0.138057;gnomADv4_1_AF_joint_XX=0.153968;gnomADv4_1_AF_joint_XY=0.121164;gnomADv4_1_AN_grpmax_joint=252;gnomADv4_1_AN_joint=143238;gnomADv4_1_AN_joint_XX=73762;gnomADv4_1_AN_joint_XY=69476;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1460;gnomADv4_1_nhomalt_joint_XX=964;gnomADv4_1_nhomalt_joint_XY=496;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2765041 chrX_2765041_C_CA C CA 10 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=10;CADDIndel_PHREDscore=1.013;CADDIndel_Rawscore=-0.014585;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-5485dup|||||||rs1219282861||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||24|chrX:g.2765065dup|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+12730dup|||||||rs1219282861||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||24|chrX:g.2765065dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-5485dup|||||||rs1219282861||1||HGNC|HGNC:12806|1||||||||Ensembl||||||24|chrX:g.2765065dup|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+12730dup|||||||rs1219282861||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||24|chrX:g.2765065dup|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-5485dup|||||||rs1219282861||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||24|chrX:g.2765065dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-5485dup|||||||rs1219282861||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||24|chrX:g.2765065dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-5485dup|||||||rs1219282861||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||24|chrX:g.2765065dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-5485dup|||||||rs1219282861||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||24|chrX:g.2765065dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-5485dup|||||||rs1219282861||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||24|chrX:g.2765065dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-5485dup|||||||rs1219282861||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||24|chrX:g.2765065dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-9651dup|||||||rs1219282861||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||24|chrX:g.2765065dup|||||||||||||;SpliceAI=CA|XG|0.00|0.00|0.00|0.00|2|26|3|-16;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23608;gnomADv4_1_AC_joint_XX=13425;gnomADv4_1_AC_joint_XY=10183;gnomADv4_1_AF_grpmax_joint=0.700976;gnomADv4_1_AF_joint=0.650645;gnomADv4_1_AF_joint_XX=0.634032;gnomADv4_1_AF_joint_XY=0.673925;gnomADv4_1_AN_grpmax_joint=20908;gnomADv4_1_AN_joint=36284;gnomADv4_1_AN_joint_XX=21174;gnomADv4_1_AN_joint_XY=15110;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7522;gnomADv4_1_nhomalt_joint_XX=4089;gnomADv4_1_nhomalt_joint_XY=3433;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2765057 chrX_2765057_A_AG A AG 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=14;CADDIndel_PHREDscore=0.429;CADDIndel_Rawscore=-0.231542;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-5493_62-5492insG|||||||rs775603296||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl|||||||chrX:g.2765057_2765058insG|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+12722_61+12723insG|||||||rs775603296||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2765057_2765058insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-5493_41-5492insG|||||||rs775603296||1||HGNC|HGNC:12806|1||||||||Ensembl|||||||chrX:g.2765057_2765058insG|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+12722_61+12723insG|||||||rs775603296||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2765057_2765058insG|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-5493_62-5492insG|||||||rs775603296||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl|||||||chrX:g.2765057_2765058insG|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-5493_62-5492insG|||||||rs775603296||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq|||||||chrX:g.2765057_2765058insG|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-5493_62-5492insG|||||||rs775603296||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq|||||||chrX:g.2765057_2765058insG|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-5493_62-5492insG|||||||rs775603296||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq|||||||chrX:g.2765057_2765058insG|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-5493_62-5492insG|||||||rs775603296||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq|||||||chrX:g.2765057_2765058insG|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-5493_62-5492insG|||||||rs775603296||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq|||||||chrX:g.2765057_2765058insG|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-9659_62-9658insG|||||||rs775603296||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq|||||||chrX:g.2765057_2765058insG|||||||||||||;SpliceAI=AG|XG|0.00|0.00|0.00|0.00|1|10|-44|-32;TYPE=INDEL;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10973;gnomADv4_1_AC_joint_XX=6491;gnomADv4_1_AC_joint_XY=4482;gnomADv4_1_AF_grpmax_joint=0.110032;gnomADv4_1_AF_joint=0.0806909;gnomADv4_1_AF_joint_XX=0.092304;gnomADv4_1_AF_joint_XY=0.0682545;gnomADv4_1_AN_grpmax_joint=63318;gnomADv4_1_AN_joint=135988;gnomADv4_1_AN_joint_XX=70322;gnomADv4_1_AN_joint_XY=65666;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=666;gnomADv4_1_nhomalt_joint_XX=407;gnomADv4_1_nhomalt_joint_XY=259;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2765124 chrX_2765124_G_A G A 49 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=1.134;CADD_Rawscore=0.014929;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-5426G>A|||||||rs312224||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2765124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+12789G>A|||||||rs312224||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2765124G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-5426G>A|||||||rs312224||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2765124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+12789G>A|||||||rs312224||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2765124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-5426G>A|||||||rs312224||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2765124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-5426G>A|||||||rs312224||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2765124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-5426G>A|||||||rs312224||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2765124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-5426G>A|||||||rs312224||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2765124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-5426G>A|||||||rs312224||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2765124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-5426G>A|||||||rs312224||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2765124G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-9592G>A|||||||rs312224||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2765124G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|-8|14|-8|40;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40753;gnomADv4_1_AC_joint_XX=18960;gnomADv4_1_AC_joint_XY=21793;gnomADv4_1_AF_grpmax_joint=0.341417;gnomADv4_1_AF_joint=0.272774;gnomADv4_1_AF_joint_XX=0.246817;gnomADv4_1_AF_joint_XY=0.300245;gnomADv4_1_AN_grpmax_joint=67542;gnomADv4_1_AN_joint=149402;gnomADv4_1_AN_joint_XX=76818;gnomADv4_1_AN_joint_XY=72584;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6039;gnomADv4_1_nhomalt_joint_XX=2622;gnomADv4_1_nhomalt_joint_XY=3417;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2765152 chrX_2765152_C_G C G 51 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=0;AC_XY=3;AF=0.5;AF_XX=0.0;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=51;CADD_PHREDscore=1.067;CADD_Rawscore=-0.001061;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-5398C>G|||||||rs311131||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2765152C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+12817C>G|||||||rs311131||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2765152C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-5398C>G|||||||rs311131||1||HGNC|HGNC:12806|1||||||||Ensembl||C|C||||chrX:g.2765152C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+12817C>G|||||||rs311131||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2765152C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-5398C>G|||||||rs311131||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2765152C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-5398C>G|||||||rs311131||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2765152C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-5398C>G|||||||rs311131||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2765152C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-5398C>G|||||||rs311131||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2765152C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-5398C>G|||||||rs311131||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2765152C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-5398C>G|||||||rs311131||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2765152C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-9564C>G|||||||rs311131||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2765152C>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|5|50|-36|-20;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=112373;gnomADv4_1_AC_joint_XX=57231;gnomADv4_1_AC_joint_XY=55142;gnomADv4_1_AF_grpmax_joint=0.912608;gnomADv4_1_AF_joint=0.74606;gnomADv4_1_AF_joint_XX=0.741065;gnomADv4_1_AF_joint_XY=0.751315;gnomADv4_1_AN_grpmax_joint=5092;gnomADv4_1_AN_joint=150622;gnomADv4_1_AN_joint_XX=77228;gnomADv4_1_AN_joint_XY=73394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=43011;gnomADv4_1_nhomalt_joint_XX=21804;gnomADv4_1_nhomalt_joint_XY=21207;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2765200 chrX_2765200_A_G A G 60 . AC=5;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=4;AC_Hom_XX=0;AC_Hom_XY=4;AC_XX=1;AC_XY=4;AF=0.833333;AF_XX=0.5;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=60;CADD_PHREDscore=3.78;CADD_Rawscore=0.345698;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-5350A>G|||||||rs311133||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2765200A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+12865A>G|||||||rs311133||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2765200A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-5350A>G|||||||rs311133||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2765200A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+12865A>G|||||||rs311133||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2765200A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-5350A>G|||||||rs311133||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2765200A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-5350A>G|||||||rs311133||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2765200A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-5350A>G|||||||rs311133||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2765200A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-5350A>G|||||||rs311133||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2765200A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-5350A>G|||||||rs311133||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2765200A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-5350A>G|||||||rs311133||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2765200A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-9516A>G|||||||rs311133||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2765200A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|15|2|0|-36;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=111922;gnomADv4_1_AC_joint_XX=54259;gnomADv4_1_AC_joint_XY=57663;gnomADv4_1_AF_grpmax_joint=0.944358;gnomADv4_1_AF_joint=0.739267;gnomADv4_1_AF_joint_XX=0.700206;gnomADv4_1_AF_joint_XY=0.780221;gnomADv4_1_AN_grpmax_joint=5122;gnomADv4_1_AN_joint=151396;gnomADv4_1_AN_joint_XX=77490;gnomADv4_1_AN_joint_XY=73906;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=41589;gnomADv4_1_nhomalt_joint_XX=19243;gnomADv4_1_nhomalt_joint_XY=22346;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=2.0;numhomalt_XX=0.0;numhomalt_XY=2.0 +chrX 2765257 chrX_2765257_G_A G A 53 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=1.418;CADD_Rawscore=0.073406;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-5293G>A|||||||rs311134||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2765257G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+12922G>A|||||||rs311134||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2765257G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-5293G>A|||||||rs311134||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2765257G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+12922G>A|||||||rs311134||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2765257G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-5293G>A|||||||rs311134||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2765257G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-5293G>A|||||||rs311134||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2765257G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-5293G>A|||||||rs311134||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2765257G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-5293G>A|||||||rs311134||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2765257G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-5293G>A|||||||rs311134||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2765257G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-5293G>A|||||||rs311134||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2765257G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-9459G>A|||||||rs311134||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2765257G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|2|-42|-3|29;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84630;gnomADv4_1_AC_joint_XX=47412;gnomADv4_1_AC_joint_XY=37218;gnomADv4_1_AF_grpmax_joint=0.900711;gnomADv4_1_AF_joint=0.563944;gnomADv4_1_AF_joint_XX=0.615484;gnomADv4_1_AF_joint_XY=0.509584;gnomADv4_1_AN_grpmax_joint=5066;gnomADv4_1_AN_joint=150068;gnomADv4_1_AN_joint_XX=77032;gnomADv4_1_AN_joint_XY=73036;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23835;gnomADv4_1_nhomalt_joint_XX=14727;gnomADv4_1_nhomalt_joint_XY=9108;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2765283 chrX_2765283_A_G A G 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADD_PHREDscore=2.529;CADD_Rawscore=0.226835;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-5267A>G|||||||rs311135||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2765283A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+12948A>G|||||||rs311135||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2765283A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-5267A>G|||||||rs311135||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2765283A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+12948A>G|||||||rs311135||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2765283A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-5267A>G|||||||rs311135||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2765283A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-5267A>G|||||||rs311135||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2765283A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-5267A>G|||||||rs311135||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2765283A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-5267A>G|||||||rs311135||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2765283A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-5267A>G|||||||rs311135||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2765283A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-5267A>G|||||||rs311135||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2765283A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-9433A>G|||||||rs311135||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2765283A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|4|2|3|49;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49900;gnomADv4_1_AC_joint_XX=27231;gnomADv4_1_AC_joint_XY=22669;gnomADv4_1_AF_grpmax_joint=0.592415;gnomADv4_1_AF_joint=0.33056;gnomADv4_1_AF_joint_XX=0.352642;gnomADv4_1_AF_joint_XY=0.307435;gnomADv4_1_AN_grpmax_joint=40924;gnomADv4_1_AN_joint=150956;gnomADv4_1_AN_joint_XX=77220;gnomADv4_1_AN_joint_XY=73736;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10329;gnomADv4_1_nhomalt_joint_XX=5650;gnomADv4_1_nhomalt_joint_XY=4679;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2765376 chrX_2765376_GGGAAGGAA_G;chrX_2765376_GGGAA_G GGGAA G 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADDIndel_PHREDscore=0.618;CADDIndel_Rawscore=-0.140095;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-5137_62-5134del|||||||rs56267419||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||GGAA|GGAA|||36|chrX:g.2765413_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+13078_61+13081del|||||||rs56267419||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||GGAA|GGAA|||36|chrX:g.2765413_2765416del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-5137_41-5134del|||||||rs56267419||1||HGNC|HGNC:12806|1||||||||Ensembl||GGAA|GGAA|||36|chrX:g.2765413_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+13078_61+13081del|||||||rs56267419||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||GGAA|GGAA|||36|chrX:g.2765413_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-5137_62-5134del|||||||rs56267419||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||GGAA|GGAA|||36|chrX:g.2765413_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-5137_62-5134del|||||||rs56267419||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||GGAA|GGAA|||36|chrX:g.2765413_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-5137_62-5134del|||||||rs56267419||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||GGAA|GGAA|||36|chrX:g.2765413_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-5137_62-5134del|||||||rs56267419||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||GGAA|GGAA|||36|chrX:g.2765413_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-5137_62-5134del|||||||rs56267419||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||GGAA|GGAA|||36|chrX:g.2765413_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-5137_62-5134del|||||||rs56267419||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||GGAA|GGAA|||36|chrX:g.2765413_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-9303_62-9300del|||||||rs56267419||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||GGAA|GGAA|||36|chrX:g.2765413_2765416del|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|10|30|-36|-41;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3019;gnomADv4_1_AC_joint_XX=1502;gnomADv4_1_AC_joint_XY=1517;gnomADv4_1_AF_grpmax_joint=0.0367472;gnomADv4_1_AF_joint=0.0209501;gnomADv4_1_AF_joint_XX=0.0202268;gnomADv4_1_AF_joint_XY=0.0217192;gnomADv4_1_AN_grpmax_joint=14314;gnomADv4_1_AN_joint=144104;gnomADv4_1_AN_joint_XX=74258;gnomADv4_1_AN_joint_XY=69846;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=49;gnomADv4_1_nhomalt_joint_XX=25;gnomADv4_1_nhomalt_joint_XY=24;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2765376 chrX_2765376_GGGAAGGAA_G;chrX_2765376_GGGAA_G GGGAAGGAA G 45 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADDIndel_PHREDscore=0.579;CADDIndel_Rawscore=-0.156422;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-5141_62-5134del|||||||rs56267419||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||GGAAGGAA|GGAAGGAA|||32|chrX:g.2765409_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+13074_61+13081del|||||||rs56267419||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||GGAAGGAA|GGAAGGAA|||32|chrX:g.2765409_2765416del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-5141_41-5134del|||||||rs56267419||1||HGNC|HGNC:12806|1||||||||Ensembl||GGAAGGAA|GGAAGGAA|||32|chrX:g.2765409_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+13074_61+13081del|||||||rs56267419||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||GGAAGGAA|GGAAGGAA|||32|chrX:g.2765409_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-5141_62-5134del|||||||rs56267419||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||GGAAGGAA|GGAAGGAA|||32|chrX:g.2765409_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-5141_62-5134del|||||||rs56267419||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||GGAAGGAA|GGAAGGAA|||32|chrX:g.2765409_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-5141_62-5134del|||||||rs56267419||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||GGAAGGAA|GGAAGGAA|||32|chrX:g.2765409_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-5141_62-5134del|||||||rs56267419||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||GGAAGGAA|GGAAGGAA|||32|chrX:g.2765409_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-5141_62-5134del|||||||rs56267419||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||GGAAGGAA|GGAAGGAA|||32|chrX:g.2765409_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-5141_62-5134del|||||||rs56267419||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||GGAAGGAA|GGAAGGAA|||32|chrX:g.2765409_2765416del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-9307_62-9300del|||||||rs56267419||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||GGAAGGAA|GGAAGGAA|||32|chrX:g.2765409_2765416del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73512;gnomADv4_1_AC_joint_XX=35164;gnomADv4_1_AC_joint_XY=38348;gnomADv4_1_AF_grpmax_joint=0.684701;gnomADv4_1_AF_joint=0.510571;gnomADv4_1_AF_joint_XX=0.473768;gnomADv4_1_AF_joint_XY=0.549729;gnomADv4_1_AN_grpmax_joint=4510;gnomADv4_1_AN_joint=143980;gnomADv4_1_AN_joint_XX=74222;gnomADv4_1_AN_joint_XY=69758;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=19915;gnomADv4_1_nhomalt_joint_XX=8879;gnomADv4_1_nhomalt_joint_XY=11036;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2765769 chrX_2765769_A_G A G 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.598;CADD_Rawscore=-0.148275;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-4781A>G|||||||rs311137||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2765769A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+13434A>G|||||||rs311137||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2765769A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-4781A>G|||||||rs311137||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2765769A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+13434A>G|||||||rs311137||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2765769A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-4781A>G|||||||rs311137||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2765769A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-4781A>G|||||||rs311137||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2765769A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-4781A>G|||||||rs311137||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2765769A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-4781A>G|||||||rs311137||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2765769A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-4781A>G|||||||rs311137||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2765769A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-4781A>G|||||||rs311137||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2765769A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-8947A>G|||||||rs311137||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2765769A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|45|6|-1|45;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73980;gnomADv4_1_AC_joint_XX=40940;gnomADv4_1_AC_joint_XY=33040;gnomADv4_1_AF_grpmax_joint=0.724118;gnomADv4_1_AF_joint=0.486416;gnomADv4_1_AF_joint_XX=0.526546;gnomADv4_1_AF_joint_XY=0.444444;gnomADv4_1_AN_grpmax_joint=41496;gnomADv4_1_AN_joint=152092;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=74340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=19614;gnomADv4_1_nhomalt_joint_XX=11533;gnomADv4_1_nhomalt_joint_XY=8081;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2766150 chrX_2766150_C_CT C CT 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADDIndel_PHREDscore=0.653;CADDIndel_Rawscore=-0.126438;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-4391dup|||||||rs201273239||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||9|chrX:g.2766159dup|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+13824dup|||||||rs201273239||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||9|chrX:g.2766159dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-4391dup|||||||rs201273239||1||HGNC|HGNC:12806|1||||||||Ensembl||||||9|chrX:g.2766159dup|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+13824dup|||||||rs201273239||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||9|chrX:g.2766159dup|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-4391dup|||||||rs201273239||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||9|chrX:g.2766159dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-4391dup|||||||rs201273239||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||9|chrX:g.2766159dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-4391dup|||||||rs201273239||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||9|chrX:g.2766159dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-4391dup|||||||rs201273239||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||9|chrX:g.2766159dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-4391dup|||||||rs201273239||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||9|chrX:g.2766159dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-4391dup|||||||rs201273239||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||9|chrX:g.2766159dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-8557dup|||||||rs201273239||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||9|chrX:g.2766159dup|||||||||||||;SpliceAI=CT|XG|0.00|0.00|0.00|0.00|13|48|7|-35;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22224;gnomADv4_1_AC_joint_XX=12852;gnomADv4_1_AC_joint_XY=9372;gnomADv4_1_AF_grpmax_joint=0.219178;gnomADv4_1_AF_joint=0.146747;gnomADv4_1_AF_joint_XX=0.165991;gnomADv4_1_AF_joint_XY=0.126618;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151444;gnomADv4_1_AN_joint_XX=77426;gnomADv4_1_AN_joint_XY=74018;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1786;gnomADv4_1_nhomalt_joint_XX=1187;gnomADv4_1_nhomalt_joint_XY=599;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2766503 chrX_2766503_TG_T TG T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=35;CADDIndel_PHREDscore=1.548;CADDIndel_Rawscore=0.096433;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-4041del|||||||rs36165554||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G|||5|chrX:g.2766509del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+14174del|||||||rs36165554||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G|||5|chrX:g.2766509del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-4041del|||||||rs36165554||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G|||5|chrX:g.2766509del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+14174del|||||||rs36165554||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G|||5|chrX:g.2766509del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-4041del|||||||rs36165554||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G|||5|chrX:g.2766509del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-4041del|||||||rs36165554||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G|||5|chrX:g.2766509del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-4041del|||||||rs36165554||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G|||5|chrX:g.2766509del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-4041del|||||||rs36165554||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G|||5|chrX:g.2766509del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-4041del|||||||rs36165554||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G|||5|chrX:g.2766509del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-4041del|||||||rs36165554||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G|||5|chrX:g.2766509del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-8207del|||||||rs36165554||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G|||5|chrX:g.2766509del|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|30|-27|30|-27;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=95323;gnomADv4_1_AC_joint_XX=50113;gnomADv4_1_AC_joint_XY=45210;gnomADv4_1_AF_grpmax_joint=0.804538;gnomADv4_1_AF_joint=0.643205;gnomADv4_1_AF_joint_XX=0.657306;gnomADv4_1_AF_joint_XY=0.628266;gnomADv4_1_AN_grpmax_joint=39972;gnomADv4_1_AN_joint=148200;gnomADv4_1_AN_joint_XX=76240;gnomADv4_1_AN_joint_XY=71960;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31467;gnomADv4_1_nhomalt_joint_XX=16875;gnomADv4_1_nhomalt_joint_XY=14592;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2766557 chrX_2766557_CTTTT_C CTTTT C 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=30;CADDIndel_PHREDscore=0.575;CADDIndel_Rawscore=-0.158397;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-3972_62-3969del|||||||rs1177391752||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||TTTT|TTTT|||20|chrX:g.2766578_2766581del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+14243_61+14246del|||||||rs1177391752||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||TTTT|TTTT|||20|chrX:g.2766578_2766581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-3972_41-3969del|||||||rs1177391752||1||HGNC|HGNC:12806|1||||||||Ensembl||TTTT|TTTT|||20|chrX:g.2766578_2766581del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+14243_61+14246del|||||||rs1177391752||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||TTTT|TTTT|||20|chrX:g.2766578_2766581del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-3972_62-3969del|||||||rs1177391752||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||TTTT|TTTT|||20|chrX:g.2766578_2766581del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-3972_62-3969del|||||||rs1177391752||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||TTTT|TTTT|||20|chrX:g.2766578_2766581del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-3972_62-3969del|||||||rs1177391752||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||TTTT|TTTT|||20|chrX:g.2766578_2766581del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-3972_62-3969del|||||||rs1177391752||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||TTTT|TTTT|||20|chrX:g.2766578_2766581del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-3972_62-3969del|||||||rs1177391752||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||TTTT|TTTT|||20|chrX:g.2766578_2766581del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-3972_62-3969del|||||||rs1177391752||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||TTTT|TTTT|||20|chrX:g.2766578_2766581del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-8138_62-8135del|||||||rs1177391752||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||TTTT|TTTT|||20|chrX:g.2766578_2766581del|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|33|-18|33|-24;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18938;gnomADv4_1_AC_joint_XX=10362;gnomADv4_1_AC_joint_XY=8576;gnomADv4_1_AF_grpmax_joint=0.480923;gnomADv4_1_AF_joint=0.211211;gnomADv4_1_AF_joint_XX=0.213394;gnomADv4_1_AF_joint_XY=0.208631;gnomADv4_1_AN_grpmax_joint=21020;gnomADv4_1_AN_joint=89664;gnomADv4_1_AN_joint_XX=48558;gnomADv4_1_AN_joint_XY=41106;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2871;gnomADv4_1_nhomalt_joint_XX=1476;gnomADv4_1_nhomalt_joint_XY=1395;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2766658 chrX_2766658_G_A G A 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=0.072;CADD_Rawscore=-0.699861;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-3892G>A|||||||rs2857325||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2766658G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+14323G>A|||||||rs2857325||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2766658G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-3892G>A|||||||rs2857325||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2766658G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+14323G>A|||||||rs2857325||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2766658G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-3892G>A|||||||rs2857325||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2766658G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-3892G>A|||||||rs2857325||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2766658G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-3892G>A|||||||rs2857325||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2766658G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-3892G>A|||||||rs2857325||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2766658G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-3892G>A|||||||rs2857325||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2766658G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-3892G>A|||||||rs2857325||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2766658G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-8058G>A|||||||rs2857325||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2766658G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|2|-48|1|-35;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88149;gnomADv4_1_AC_joint_XX=46005;gnomADv4_1_AC_joint_XY=42144;gnomADv4_1_AF_grpmax_joint=0.780191;gnomADv4_1_AF_joint=0.602473;gnomADv4_1_AF_joint_XX=0.609936;gnomADv4_1_AF_joint_XY=0.594532;gnomADv4_1_AN_grpmax_joint=4604;gnomADv4_1_AN_joint=146312;gnomADv4_1_AN_joint_XX=75426;gnomADv4_1_AN_joint_XY=70886;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=26908;gnomADv4_1_nhomalt_joint_XX=14212;gnomADv4_1_nhomalt_joint_XY=12696;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2766748 chrX_2766748_C_G C G 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=29;CADD_PHREDscore=1.332;CADD_Rawscore=0.056999;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-3802C>G|||||||rs311139||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2766748C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+14413C>G|||||||rs311139||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2766748C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-3802C>G|||||||rs311139||1||HGNC|HGNC:12806|1||||||||Ensembl||C|C||||chrX:g.2766748C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+14413C>G|||||||rs311139||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2766748C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-3802C>G|||||||rs311139||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2766748C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-3802C>G|||||||rs311139||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2766748C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-3802C>G|||||||rs311139||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2766748C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-3802C>G|||||||rs311139||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2766748C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-3802C>G|||||||rs311139||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2766748C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-3802C>G|||||||rs311139||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2766748C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-7968C>G|||||||rs311139||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2766748C>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|1|4|1|4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=104281;gnomADv4_1_AC_joint_XX=55327;gnomADv4_1_AC_joint_XY=48954;gnomADv4_1_AF_grpmax_joint=0.810193;gnomADv4_1_AF_joint=0.695782;gnomADv4_1_AF_joint_XX=0.720347;gnomADv4_1_AF_joint_XY=0.66996;gnomADv4_1_AN_grpmax_joint=40794;gnomADv4_1_AN_joint=149876;gnomADv4_1_AN_joint_XX=76806;gnomADv4_1_AN_joint_XY=73070;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=36613;gnomADv4_1_nhomalt_joint_XX=20105;gnomADv4_1_nhomalt_joint_XY=16508;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2767068 chrX_2767068_AG_A AG A 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=0.8;CADDIndel_Rawscore=-0.075054;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-3480del|||||||rs56087645||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G|||1|chrX:g.2767070del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+14735del|||||||rs56087645||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G|||1|chrX:g.2767070del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-3480del|||||||rs56087645||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G|||1|chrX:g.2767070del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+14735del|||||||rs56087645||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G|||1|chrX:g.2767070del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-3480del|||||||rs56087645||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G|||1|chrX:g.2767070del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-3480del|||||||rs56087645||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G|||1|chrX:g.2767070del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-3480del|||||||rs56087645||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G|||1|chrX:g.2767070del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-3480del|||||||rs56087645||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G|||1|chrX:g.2767070del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-3480del|||||||rs56087645||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G|||1|chrX:g.2767070del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-3480del|||||||rs56087645||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G|||1|chrX:g.2767070del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-7646del|||||||rs56087645||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G|||1|chrX:g.2767070del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_847BC|enhancer||||||||||rs56087645|||||||||||||||||||||chrX:g.2767070del|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|3|2|27|2;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3,ENSRX_847BC;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499,.;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33133;gnomADv4_1_AC_joint_XX=14277;gnomADv4_1_AC_joint_XY=18856;gnomADv4_1_AF_grpmax_joint=0.293728;gnomADv4_1_AF_joint=0.218256;gnomADv4_1_AF_joint_XX=0.183707;gnomADv4_1_AF_joint_XY=0.254494;gnomADv4_1_AN_grpmax_joint=67886;gnomADv4_1_AN_joint=151808;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=74092;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4494;gnomADv4_1_nhomalt_joint_XX=1756;gnomADv4_1_nhomalt_joint_XY=2738;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2767106 chrX_2767106_G_A G A 55 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=0.385;CADD_Rawscore=-0.25851;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-3444G>A|||||||rs2535447||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2767106G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.61+14771G>A|||||||rs2535447||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2767106G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-3444G>A|||||||rs2535447||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2767106G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.61+14771G>A|||||||rs2535447||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2767106G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-3444G>A|||||||rs2535447||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2767106G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-3444G>A|||||||rs2535447||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2767106G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-3444G>A|||||||rs2535447||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2767106G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-3444G>A|||||||rs2535447||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2767106G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-3444G>A|||||||rs2535447||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2767106G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-3444G>A|||||||rs2535447||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2767106G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-7610G>A|||||||rs2535447||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2767106G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_847BC|enhancer||||||||||rs2535447|||||||||||||||||||||chrX:g.2767106G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|21|-1|-11|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3,ENSRX_847BC;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499,.;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48574;gnomADv4_1_AC_joint_XX=22267;gnomADv4_1_AC_joint_XY=26307;gnomADv4_1_AF_grpmax_joint=0.360211;gnomADv4_1_AF_joint=0.320333;gnomADv4_1_AF_joint_XX=0.286872;gnomADv4_1_AF_joint_XY=0.355423;gnomADv4_1_AN_grpmax_joint=5122;gnomADv4_1_AN_joint=151636;gnomADv4_1_AN_joint_XX=77620;gnomADv4_1_AN_joint_XY=74016;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7686;gnomADv4_1_nhomalt_joint_XX=3245;gnomADv4_1_nhomalt_joint_XY=4441;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2767213 chrX_2767213_T_C T C 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.025;CADD_Rawscore=-0.011534;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-3337T>C|||||||rs311142||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2767213T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-14853T>C|||||||rs311142||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2767213T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-3337T>C|||||||rs311142||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2767213T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-14853T>C|||||||rs311142||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2767213T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-3337T>C|||||||rs311142||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2767213T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-3337T>C|||||||rs311142||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2767213T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-3337T>C|||||||rs311142||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2767213T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-3337T>C|||||||rs311142||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2767213T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-3337T>C|||||||rs311142||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2767213T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-3337T>C|||||||rs311142||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2767213T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-7503T>C|||||||rs311142||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2767213T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_847BC|enhancer||||||||||rs311142|||||||||||||||||||||chrX:g.2767213T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-14|6|9|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3,ENSRX_847BC;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499,.;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=99419;gnomADv4_1_AC_joint_XX=52364;gnomADv4_1_AC_joint_XY=47055;gnomADv4_1_AF_grpmax_joint=0.797619;gnomADv4_1_AF_joint=0.657185;gnomADv4_1_AF_joint_XX=0.676363;gnomADv4_1_AF_joint_XY=0.637084;gnomADv4_1_AN_grpmax_joint=4788;gnomADv4_1_AN_joint=151280;gnomADv4_1_AN_joint_XX=77420;gnomADv4_1_AN_joint_XY=73860;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=33103;gnomADv4_1_nhomalt_joint_XX=17886;gnomADv4_1_nhomalt_joint_XY=15217;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2767220 chrX_2767220_G_A G A 52 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=52;CADD_PHREDscore=0.691;CADD_Rawscore=-0.112013;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-3330G>A|||||||rs311143||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2767220G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-14846G>A|||||||rs311143||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2767220G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-3330G>A|||||||rs311143||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2767220G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-14846G>A|||||||rs311143||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2767220G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-3330G>A|||||||rs311143||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2767220G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-3330G>A|||||||rs311143||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2767220G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-3330G>A|||||||rs311143||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2767220G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-3330G>A|||||||rs311143||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2767220G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-3330G>A|||||||rs311143||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2767220G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-3330G>A|||||||rs311143||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2767220G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-7496G>A|||||||rs311143||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2767220G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_847BC|enhancer||||||||||rs311143|||||||||||||||||||||chrX:g.2767220G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|-21|1|2|-9;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3,ENSRX_847BC;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499,.;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=99207;gnomADv4_1_AC_joint_XX=52233;gnomADv4_1_AC_joint_XY=46974;gnomADv4_1_AF_grpmax_joint=0.797032;gnomADv4_1_AF_joint=0.655715;gnomADv4_1_AF_joint_XX=0.674549;gnomADv4_1_AF_joint_XY=0.63597;gnomADv4_1_AN_grpmax_joint=4784;gnomADv4_1_AN_joint=151296;gnomADv4_1_AN_joint_XX=77434;gnomADv4_1_AN_joint_XY=73862;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=32938;gnomADv4_1_nhomalt_joint_XX=17783;gnomADv4_1_nhomalt_joint_XY=15155;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2767767 chrX_2767767_G_A G A 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.887;CADD_Rawscore=-0.04861;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-2783G>A|||||||rs2535446||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2767767G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-14299G>A|||||||rs2535446||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2767767G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-2783G>A|||||||rs2535446||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2767767G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-14299G>A|||||||rs2535446||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2767767G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-2783G>A|||||||rs2535446||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2767767G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-2783G>A|||||||rs2535446||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2767767G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-2783G>A|||||||rs2535446||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2767767G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-2783G>A|||||||rs2535446||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2767767G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-2783G>A|||||||rs2535446||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2767767G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-2783G>A|||||||rs2535446||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2767767G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-6949G>A|||||||rs2535446||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2767767G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_BJSG|enhancer||||||||||rs2535446|||||||||||||||||||||chrX:g.2767767G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|2|10|2|-23;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3,ENSRX_BJSG;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499,.;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=44593;gnomADv4_1_AC_joint_XX=23734;gnomADv4_1_AC_joint_XY=20859;gnomADv4_1_AF_grpmax_joint=0.363946;gnomADv4_1_AF_joint=0.293317;gnomADv4_1_AF_joint_XX=0.305315;gnomADv4_1_AF_joint_XY=0.280763;gnomADv4_1_AN_grpmax_joint=294;gnomADv4_1_AN_joint=152030;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=74294;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7090;gnomADv4_1_nhomalt_joint_XX=3961;gnomADv4_1_nhomalt_joint_XY=3129;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2768461 chrX_2768461_C_T C T 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADD_PHREDscore=0.24;CADD_Rawscore=-0.379658;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-2089C>T|||||||rs2534624||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2768461C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-13605C>T|||||||rs2534624||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2768461C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-2089C>T|||||||rs2534624||1||HGNC|HGNC:12806|1||||||||Ensembl||C|C||||chrX:g.2768461C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-13605C>T|||||||rs2534624||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2768461C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-2089C>T|||||||rs2534624||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2768461C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-2089C>T|||||||rs2534624||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2768461C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-2089C>T|||||||rs2534624||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2768461C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-2089C>T|||||||rs2534624||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2768461C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-2089C>T|||||||rs2534624||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2768461C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-2089C>T|||||||rs2534624||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2768461C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-6255C>T|||||||rs2534624||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2768461C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_BJSG|enhancer||||||||||rs2534624|||||||||||||||||||||chrX:g.2768461C>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|13|-21|25|30;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3,ENSRX_BJSG;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499,.;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42611;gnomADv4_1_AC_joint_XX=20683;gnomADv4_1_AC_joint_XY=21928;gnomADv4_1_AF_grpmax_joint=0.405754;gnomADv4_1_AF_joint=0.28031;gnomADv4_1_AF_joint_XX=0.266149;gnomADv4_1_AF_joint_XY=0.29512;gnomADv4_1_AN_grpmax_joint=41434;gnomADv4_1_AN_joint=152014;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6518;gnomADv4_1_nhomalt_joint_XX=2948;gnomADv4_1_nhomalt_joint_XY=3570;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2768545 chrX_2768545_G_A G A 46 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.354;CADD_Rawscore=0.061329;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-2005G>A|||||||rs2535445||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2768545G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-13521G>A|||||||rs2535445||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2768545G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-2005G>A|||||||rs2535445||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2768545G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-13521G>A|||||||rs2535445||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2768545G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-2005G>A|||||||rs2535445||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2768545G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-2005G>A|||||||rs2535445||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2768545G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-2005G>A|||||||rs2535445||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2768545G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-2005G>A|||||||rs2535445||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2768545G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-2005G>A|||||||rs2535445||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2768545G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-2005G>A|||||||rs2535445||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2768545G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-6171G>A|||||||rs2535445||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2768545G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|41|-5|9|-5;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41774;gnomADv4_1_AC_joint_XX=20379;gnomADv4_1_AC_joint_XY=21395;gnomADv4_1_AF_grpmax_joint=0.406277;gnomADv4_1_AF_joint=0.274847;gnomADv4_1_AF_joint_XX=0.262319;gnomADv4_1_AF_joint_XY=0.287946;gnomADv4_1_AN_grpmax_joint=41452;gnomADv4_1_AN_joint=151990;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=74302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6282;gnomADv4_1_nhomalt_joint_XX=2852;gnomADv4_1_nhomalt_joint_XY=3430;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2768825 chrX_2768825_T_G T G 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=1.565;CADD_Rawscore=0.09934;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-1725T>G|||||||rs2630498||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2768825T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-13241T>G|||||||rs2630498||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2768825T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-1725T>G|||||||rs2630498||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2768825T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-13241T>G|||||||rs2630498||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2768825T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-1725T>G|||||||rs2630498||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2768825T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-1725T>G|||||||rs2630498||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2768825T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-1725T>G|||||||rs2630498||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2768825T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-1725T>G|||||||rs2630498||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2768825T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-1725T>G|||||||rs2630498||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2768825T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-1725T>G|||||||rs2630498||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2768825T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-5891T>G|||||||rs2630498||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2768825T>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|1|32|0|31;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71054;gnomADv4_1_AC_joint_XX=36255;gnomADv4_1_AC_joint_XY=34799;gnomADv4_1_AF_grpmax_joint=0.653095;gnomADv4_1_AF_joint=0.467436;gnomADv4_1_AF_joint_XX=0.466542;gnomADv4_1_AF_joint_XY=0.468371;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=152008;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=74298;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=16795;gnomADv4_1_nhomalt_joint_XX=8574;gnomADv4_1_nhomalt_joint_XY=8221;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2769281 chrX_2769281_T_C T C 38 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=1.423;CADD_Rawscore=0.074277;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-1269T>C|||||||rs311145||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2769281T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-12785T>C|||||||rs311145||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2769281T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-1269T>C|||||||rs311145||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2769281T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-12785T>C|||||||rs311145||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2769281T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-1269T>C|||||||rs311145||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2769281T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-1269T>C|||||||rs311145||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2769281T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-1269T>C|||||||rs311145||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2769281T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-1269T>C|||||||rs311145||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2769281T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-1269T>C|||||||rs311145||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2769281T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-1269T>C|||||||rs311145||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2769281T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-5435T>C|||||||rs311145||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2769281T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|43|-2|50|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=91887;gnomADv4_1_AC_joint_XX=47457;gnomADv4_1_AC_joint_XY=44430;gnomADv4_1_AF_grpmax_joint=0.786456;gnomADv4_1_AF_joint=0.604679;gnomADv4_1_AF_joint_XX=0.610882;gnomADv4_1_AF_joint_XY=0.59819;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=151960;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=74274;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28573;gnomADv4_1_nhomalt_joint_XX=14811;gnomADv4_1_nhomalt_joint_XY=13762;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2769517 chrX_2769517_A_G A G 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=3.097;CADD_Rawscore=0.283682;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-1033A>G|||||||rs2535444||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2769517A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-12549A>G|||||||rs2535444||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2769517A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-1033A>G|||||||rs2535444||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2769517A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-12549A>G|||||||rs2535444||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2769517A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-1033A>G|||||||rs2535444||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2769517A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-1033A>G|||||||rs2535444||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2769517A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-1033A>G|||||||rs2535444||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2769517A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-1033A>G|||||||rs2535444||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2769517A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-1033A>G|||||||rs2535444||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2769517A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-1033A>G|||||||rs2535444||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2769517A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-5199A>G|||||||rs2535444||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2769517A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|-1|2|-1|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72150;gnomADv4_1_AC_joint_XX=36972;gnomADv4_1_AC_joint_XY=35178;gnomADv4_1_AF_grpmax_joint=0.649979;gnomADv4_1_AF_joint=0.474684;gnomADv4_1_AF_joint_XX=0.475781;gnomADv4_1_AF_joint_XY=0.473535;gnomADv4_1_AN_grpmax_joint=4814;gnomADv4_1_AN_joint=151996;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=74288;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=17355;gnomADv4_1_nhomalt_joint_XX=8870;gnomADv4_1_nhomalt_joint_XY=8485;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2770248 chrX_2770248_A_T A T 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.061;CADD_Rawscore=-0.744115;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-302A>T|||||||rs2857324||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2770248A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-11818A>T|||||||rs2857324||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2770248A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-302A>T|||||||rs2857324||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2770248A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-11818A>T|||||||rs2857324||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2770248A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-302A>T|||||||rs2857324||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2770248A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-302A>T|||||||rs2857324||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2770248A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-302A>T|||||||rs2857324||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2770248A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-302A>T|||||||rs2857324||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2770248A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-302A>T|||||||rs2857324||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2770248A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-302A>T|||||||rs2857324||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2770248A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-4468A>T|||||||rs2857324||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2770248A>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|12|4|-23|-18;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71741;gnomADv4_1_AC_joint_XX=36747;gnomADv4_1_AC_joint_XY=34994;gnomADv4_1_AF_grpmax_joint=0.644704;gnomADv4_1_AF_joint=0.472552;gnomADv4_1_AF_joint_XX=0.473154;gnomADv4_1_AF_joint_XY=0.471923;gnomADv4_1_AN_grpmax_joint=4796;gnomADv4_1_AN_joint=151816;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74152;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=17182;gnomADv4_1_nhomalt_joint_XX=8779;gnomADv4_1_nhomalt_joint_XY=8403;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2770410 chrX_2770410_T_C T C 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=41;CADD_PHREDscore=0.624;CADD_Rawscore=-0.137938;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-140T>C|||||||rs2857323||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2770410T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-11656T>C|||||||rs2857323||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2770410T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-140T>C|||||||rs2857323||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2770410T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-11656T>C|||||||rs2857323||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2770410T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-140T>C|||||||rs2857323||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2770410T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-140T>C|||||||rs2857323||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2770410T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-140T>C|||||||rs2857323||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2770410T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-140T>C|||||||rs2857323||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2770410T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-140T>C|||||||rs2857323||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2770410T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-140T>C|||||||rs2857323||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2770410T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-4306T>C|||||||rs2857323||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2770410T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-25|5|15|-43;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=392448;gnomADv4_1_AC_joint_XX=191017;gnomADv4_1_AC_joint_XY=201431;gnomADv4_1_AF_grpmax_joint=0.634171;gnomADv4_1_AF_joint=0.484893;gnomADv4_1_AF_joint_XX=0.489958;gnomADv4_1_AF_joint_XY=0.480185;gnomADv4_1_AN_grpmax_joint=65342;gnomADv4_1_AN_joint=809350;gnomADv4_1_AN_joint_XX=389864;gnomADv4_1_AN_joint_XY=419486;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=96959;gnomADv4_1_nhomalt_joint_XX=47214;gnomADv4_1_nhomalt_joint_XY=49745;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2770501 chrX_2770501_T_C T C 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=1.985;CADD_Rawscore=0.161919;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||1/9|ENST00000381174.10:c.62-49T>C|||||||rs2535443||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2770501T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-11565T>C|||||||rs2535443||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2770501T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||1/2|ENST00000503018.1:n.41-49T>C|||||||rs2535443||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2770501T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-11565T>C|||||||rs2535443||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2770501T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||1/10|ENST00000644266.2:c.62-49T>C|||||||rs2535443||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2770501T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||1/10|NM_001141919.2:c.62-49T>C|||||||rs2535443||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2770501T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||1/9|NM_001141920.2:c.62-49T>C|||||||rs2535443||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2770501T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||1/9|NM_175569.3:c.62-49T>C|||||||rs2535443||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2770501T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||1/10|XM_005274587.5:c.62-49T>C|||||||rs2535443||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2770501T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||1/7|XM_011545575.4:c.62-49T>C|||||||rs2535443||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2770501T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-4215T>C|||||||rs2535443||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2770501T>C|||||||||||||;SpliceAI=C|XG|0.00|0.02|0.00|0.00|-46|49|-19|-38;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=759728;gnomADv4_1_AC_joint_XX=395183;gnomADv4_1_AC_joint_XY=364545;gnomADv4_1_AF_grpmax_joint=0.632277;gnomADv4_1_AF_joint=0.471898;gnomADv4_1_AF_joint_XX=0.487586;gnomADv4_1_AF_joint_XY=0.455992;gnomADv4_1_AN_grpmax_joint=90976;gnomADv4_1_AN_joint=1609942;gnomADv4_1_AN_joint_XX=810488;gnomADv4_1_AN_joint_XY=799454;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=181642;gnomADv4_1_nhomalt_joint_XX=97064;gnomADv4_1_nhomalt_joint_XY=84578;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2770918 chrX_2770918_T_C T C 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=3.901;CADD_Rawscore=0.356482;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.103+327T>C|||||||rs2857322||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2770918T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-11148T>C|||||||rs2857322||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2770918T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.82+327T>C|||||||rs2857322||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2770918T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-11148T>C|||||||rs2857322||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2770918T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.103+327T>C|||||||rs2857322||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2770918T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.103+327T>C|||||||rs2857322||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2770918T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.103+327T>C|||||||rs2857322||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2770918T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.103+327T>C|||||||rs2857322||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2770918T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.103+327T>C|||||||rs2857322||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2770918T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.103+327T>C|||||||rs2857322||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2770918T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-3798T>C|||||||rs2857322||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2770918T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-27|48|29|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33739;gnomADv4_1_AC_joint_XX=17940;gnomADv4_1_AC_joint_XY=15799;gnomADv4_1_AF_grpmax_joint=0.368064;gnomADv4_1_AF_joint=0.222008;gnomADv4_1_AF_joint_XX=0.2309;gnomADv4_1_AF_joint_XY=0.212707;gnomADv4_1_AN_grpmax_joint=5154;gnomADv4_1_AN_joint=151972;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=74276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3960;gnomADv4_1_nhomalt_joint_XX=2180;gnomADv4_1_nhomalt_joint_XY=1780;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2771109 chrX_2771109_T_C T C 55 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=0.666667;AF_XX=1.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=55;CADD_PHREDscore=1.12;CADD_Rawscore=0.011566;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.103+518T>C|||||||rs311147||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2771109T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-10957T>C|||||||rs311147||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2771109T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.82+518T>C|||||||rs311147||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2771109T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-10957T>C|||||||rs311147||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2771109T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.103+518T>C|||||||rs311147||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2771109T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.103+518T>C|||||||rs311147||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2771109T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.103+518T>C|||||||rs311147||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2771109T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.103+518T>C|||||||rs311147||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2771109T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.103+518T>C|||||||rs311147||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2771109T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.103+518T>C|||||||rs311147||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2771109T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-3607T>C|||||||rs311147||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2771109T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|23|-44|-3|45;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=124257;gnomADv4_1_AC_joint_XX=61348;gnomADv4_1_AC_joint_XY=62909;gnomADv4_1_AF_grpmax_joint=0.918401;gnomADv4_1_AF_joint=0.817588;gnomADv4_1_AF_joint_XX=0.789143;gnomADv4_1_AF_joint_XY=0.847373;gnomADv4_1_AN_grpmax_joint=4804;gnomADv4_1_AN_joint=151980;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=74240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=50787;gnomADv4_1_nhomalt_joint_XX=24284;gnomADv4_1_nhomalt_joint_XY=26503;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2771259 chrX_2771259_A_T A T 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=32;CADD_PHREDscore=4.068;CADD_Rawscore=0.371245;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.103+668A>T|||||||rs311148||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2771259A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-10807A>T|||||||rs311148||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2771259A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.82+668A>T|||||||rs311148||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2771259A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-10807A>T|||||||rs311148||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2771259A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.103+668A>T|||||||rs311148||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2771259A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.103+668A>T|||||||rs311148||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2771259A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.103+668A>T|||||||rs311148||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2771259A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.103+668A>T|||||||rs311148||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2771259A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.103+668A>T|||||||rs311148||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2771259A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.103+668A>T|||||||rs311148||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2771259A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-3457A>T|||||||rs311148||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2771259A>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|-21|2|4|0;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=75396;gnomADv4_1_AC_joint_XX=39026;gnomADv4_1_AC_joint_XY=36370;gnomADv4_1_AF_grpmax_joint=0.637712;gnomADv4_1_AF_joint=0.500385;gnomADv4_1_AF_joint_XX=0.505649;gnomADv4_1_AF_joint_XY=0.494857;gnomADv4_1_AN_grpmax_joint=4720;gnomADv4_1_AN_joint=150676;gnomADv4_1_AN_joint_XX=77180;gnomADv4_1_AN_joint_XY=73496;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=19318;gnomADv4_1_nhomalt_joint_XX=9997;gnomADv4_1_nhomalt_joint_XY=9321;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2771493 chrX_2771493_T_A T A 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=4.539;CADD_Rawscore=0.413415;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.103+902T>A|||||||rs311149||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2771493T>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-10573T>A|||||||rs311149||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2771493T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.82+902T>A|||||||rs311149||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2771493T>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-10573T>A|||||||rs311149||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2771493T>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.103+902T>A|||||||rs311149||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2771493T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.103+902T>A|||||||rs311149||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2771493T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.103+902T>A|||||||rs311149||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2771493T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.103+902T>A|||||||rs311149||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2771493T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.103+902T>A|||||||rs311149||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2771493T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.103+902T>A|||||||rs311149||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2771493T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-3223T>A|||||||rs311149||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2771493T>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|-17|15|-4|-2;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74929;gnomADv4_1_AC_joint_XX=38570;gnomADv4_1_AC_joint_XY=36359;gnomADv4_1_AF_grpmax_joint=0.649626;gnomADv4_1_AF_joint=0.493038;gnomADv4_1_AF_joint_XX=0.496269;gnomADv4_1_AF_joint_XY=0.489657;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=151974;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=74254;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=18877;gnomADv4_1_nhomalt_joint_XX=9696;gnomADv4_1_nhomalt_joint_XY=9181;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2771534 chrX_2771534_G_A G A 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=0.91;CADD_Rawscore=-0.042277;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.103+943G>A|||||||rs311150||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2771534G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-10532G>A|||||||rs311150||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2771534G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.82+943G>A|||||||rs311150||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2771534G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-10532G>A|||||||rs311150||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2771534G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.103+943G>A|||||||rs311150||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2771534G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.103+943G>A|||||||rs311150||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2771534G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.103+943G>A|||||||rs311150||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2771534G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.103+943G>A|||||||rs311150||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2771534G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.103+943G>A|||||||rs311150||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2771534G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.103+943G>A|||||||rs311150||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2771534G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-3182G>A|||||||rs311150||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2771534G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|9|-26|-49|12;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=76890;gnomADv4_1_AC_joint_XX=39986;gnomADv4_1_AC_joint_XY=36904;gnomADv4_1_AF_grpmax_joint=0.649482;gnomADv4_1_AF_joint=0.505629;gnomADv4_1_AF_joint_XX=0.514342;gnomADv4_1_AF_joint_XY=0.496515;gnomADv4_1_AN_grpmax_joint=4830;gnomADv4_1_AN_joint=152068;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=74326;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=20048;gnomADv4_1_nhomalt_joint_XX=10480;gnomADv4_1_nhomalt_joint_XY=9568;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2771566 chrX_2771566_G_A G A 49 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=4.835;CADD_Rawscore=0.440514;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.103+975G>A|||||||rs2535442||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2771566G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-10500G>A|||||||rs2535442||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2771566G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.82+975G>A|||||||rs2535442||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2771566G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-10500G>A|||||||rs2535442||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2771566G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.103+975G>A|||||||rs2535442||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2771566G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.103+975G>A|||||||rs2535442||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2771566G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.103+975G>A|||||||rs2535442||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2771566G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.103+975G>A|||||||rs2535442||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2771566G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.103+975G>A|||||||rs2535442||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2771566G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.103+975G>A|||||||rs2535442||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2771566G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-3150G>A|||||||rs2535442||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2771566G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.07|0.00|-4|36|-4|-20;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29517;gnomADv4_1_AC_joint_XX=13418;gnomADv4_1_AC_joint_XY=16099;gnomADv4_1_AF_grpmax_joint=0.310665;gnomADv4_1_AF_joint=0.194025;gnomADv4_1_AF_joint_XX=0.172503;gnomADv4_1_AF_joint_XY=0.216542;gnomADv4_1_AN_grpmax_joint=5176;gnomADv4_1_AN_joint=152130;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=74346;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2870;gnomADv4_1_nhomalt_joint_XX=1213;gnomADv4_1_nhomalt_joint_XY=1657;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2771845 chrX_2771845_A_C A C 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=33;CADD_PHREDscore=1.784;CADD_Rawscore=0.133785;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.103+1254A>C|||||||rs311151||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2771845A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-10221A>C|||||||rs311151||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2771845A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.82+1254A>C|||||||rs311151||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2771845A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-10221A>C|||||||rs311151||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2771845A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.103+1254A>C|||||||rs311151||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2771845A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.103+1254A>C|||||||rs311151||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2771845A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.103+1254A>C|||||||rs311151||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2771845A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.103+1254A>C|||||||rs311151||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2771845A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.103+1254A>C|||||||rs311151||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2771845A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.103+1254A>C|||||||rs311151||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2771845A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-2871A>C|||||||rs311151||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2771845A>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|8|26|39|-28;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=79030;gnomADv4_1_AC_joint_XX=41087;gnomADv4_1_AC_joint_XY=37943;gnomADv4_1_AF_grpmax_joint=0.658354;gnomADv4_1_AF_joint=0.520174;gnomADv4_1_AF_joint_XX=0.52879;gnomADv4_1_AF_joint_XY=0.511155;gnomADv4_1_AN_grpmax_joint=4812;gnomADv4_1_AN_joint=151930;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=74230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=21178;gnomADv4_1_nhomalt_joint_XX=11053;gnomADv4_1_nhomalt_joint_XY=10125;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2772269 chrX_2772269_T_C T C 27 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=27;CADD_PHREDscore=4.044;CADD_Rawscore=0.369107;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.103+1678T>C|||||||rs311152||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2772269T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-9797T>C|||||||rs311152||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2772269T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.82+1678T>C|||||||rs311152||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2772269T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-9797T>C|||||||rs311152||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2772269T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.103+1678T>C|||||||rs311152||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2772269T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.103+1678T>C|||||||rs311152||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2772269T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.103+1678T>C|||||||rs311152||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2772269T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.103+1678T>C|||||||rs311152||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2772269T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.103+1678T>C|||||||rs311152||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2772269T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.103+1678T>C|||||||rs311152||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2772269T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-2447T>C|||||||rs311152||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2772269T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-50|9|33|-17;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=76037;gnomADv4_1_AC_joint_XX=39300;gnomADv4_1_AC_joint_XY=36737;gnomADv4_1_AF_grpmax_joint=0.623637;gnomADv4_1_AF_joint=0.500369;gnomADv4_1_AF_joint_XX=0.505544;gnomADv4_1_AF_joint_XY=0.494948;gnomADv4_1_AN_grpmax_joint=41444;gnomADv4_1_AN_joint=151962;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=74224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=19624;gnomADv4_1_nhomalt_joint_XX=10144;gnomADv4_1_nhomalt_joint_XY=9480;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2773023 chrX_2773023_A_C A C 17 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=4;AN_XX=0;AN_XY=4;AQ=17;CADD_PHREDscore=2.241;CADD_Rawscore=0.194183;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.104-1693A>C|||||||rs2857321||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2773023A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-9043A>C|||||||rs2857321||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2773023A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.83-1693A>C|||||||rs2857321||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2773023A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-9043A>C|||||||rs2857321||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2773023A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.104-1693A>C|||||||rs2857321||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2773023A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.104-1693A>C|||||||rs2857321||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2773023A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.104-1693A>C|||||||rs2857321||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2773023A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.104-1693A>C|||||||rs2857321||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2773023A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.104-1693A>C|||||||rs2857321||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2773023A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.104-1693A>C|||||||rs2857321||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2773023A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-1693A>C|||||||rs2857321||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2773023A>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.04|0.00|-27|2|-27|-29;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35575;gnomADv4_1_AC_joint_XX=17422;gnomADv4_1_AC_joint_XY=18153;gnomADv4_1_AF_grpmax_joint=0.436971;gnomADv4_1_AF_joint=0.248148;gnomADv4_1_AF_joint_XX=0.236442;gnomADv4_1_AF_joint_XY=0.260527;gnomADv4_1_AN_grpmax_joint=4490;gnomADv4_1_AN_joint=143362;gnomADv4_1_AN_joint_XX=73684;gnomADv4_1_AN_joint_XY=69678;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4466;gnomADv4_1_nhomalt_joint_XX=2053;gnomADv4_1_nhomalt_joint_XY=2413;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2773048 chrX_2773048_G_A G A 29 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.166667;AF_XX=0.5;AF_XY=0.0;AN=6;AN_XX=2;AN_XY=4;AQ=29;CADD_PHREDscore=0.93;CADD_Rawscore=-0.036635;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.104-1668G>A|||||||rs2535441||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2773048G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-9018G>A|||||||rs2535441||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2773048G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.83-1668G>A|||||||rs2535441||1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2773048G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-9018G>A|||||||rs2535441||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2773048G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.104-1668G>A|||||||rs2535441||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2773048G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.104-1668G>A|||||||rs2535441||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2773048G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.104-1668G>A|||||||rs2535441||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2773048G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.104-1668G>A|||||||rs2535441||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2773048G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.104-1668G>A|||||||rs2535441||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2773048G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.104-1668G>A|||||||rs2535441||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2773048G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-1668G>A|||||||rs2535441||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2773048G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|7|0|-48|-50;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=83991;gnomADv4_1_AC_joint_XX=43184;gnomADv4_1_AC_joint_XY=40807;gnomADv4_1_AF_grpmax_joint=0.665077;gnomADv4_1_AF_joint=0.581695;gnomADv4_1_AF_joint_XX=0.580165;gnomADv4_1_AF_joint_XY=0.583324;gnomADv4_1_AN_grpmax_joint=4404;gnomADv4_1_AN_joint=144390;gnomADv4_1_AN_joint_XX=74434;gnomADv4_1_AN_joint_XY=69956;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=24072;gnomADv4_1_nhomalt_joint_XX=12359;gnomADv4_1_nhomalt_joint_XY=11713;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2773342 chrX_2773342_A_G A G 34 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=34;CADD_PHREDscore=2.046;CADD_Rawscore=0.170013;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.104-1374A>G|||||||rs311155||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2773342A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-8724A>G|||||||rs311155||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2773342A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.83-1374A>G|||||||rs311155||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2773342A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-8724A>G|||||||rs311155||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2773342A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.104-1374A>G|||||||rs311155||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2773342A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.104-1374A>G|||||||rs311155||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2773342A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.104-1374A>G|||||||rs311155||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2773342A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.104-1374A>G|||||||rs311155||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2773342A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.104-1374A>G|||||||rs311155||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2773342A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.104-1374A>G|||||||rs311155||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2773342A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-1374A>G|||||||rs311155||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2773342A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|26|2|26|-35;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54044;gnomADv4_1_AC_joint_XX=29104;gnomADv4_1_AC_joint_XY=24940;gnomADv4_1_AF_grpmax_joint=0.574484;gnomADv4_1_AF_joint=0.371125;gnomADv4_1_AF_joint_XX=0.389466;gnomADv4_1_AF_joint_XY=0.351793;gnomADv4_1_AN_grpmax_joint=38988;gnomADv4_1_AN_joint=145622;gnomADv4_1_AN_joint_XX=74728;gnomADv4_1_AN_joint_XY=70894;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11194;gnomADv4_1_nhomalt_joint_XX=6164;gnomADv4_1_nhomalt_joint_XY=5030;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2773521 chrX_2773521_A_G A G 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=11;CADD_PHREDscore=2.222;CADD_Rawscore=0.19195;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.104-1195A>G|||||||rs55780117||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2773521A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-8545A>G|||||||rs55780117||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2773521A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.83-1195A>G|||||||rs55780117||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2773521A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-8545A>G|||||||rs55780117||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2773521A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.104-1195A>G|||||||rs55780117||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2773521A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.104-1195A>G|||||||rs55780117||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2773521A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.104-1195A>G|||||||rs55780117||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2773521A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.104-1195A>G|||||||rs55780117||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2773521A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.104-1195A>G|||||||rs55780117||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2773521A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.104-1195A>G|||||||rs55780117||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2773521A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-1195A>G|||||||rs55780117||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2773521A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|-10|2|0|22;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15604;gnomADv4_1_AC_joint_XX=8118;gnomADv4_1_AC_joint_XY=7486;gnomADv4_1_AF_grpmax_joint=0.257587;gnomADv4_1_AF_joint=0.165167;gnomADv4_1_AF_joint_XX=0.160651;gnomADv4_1_AF_joint_XY=0.170361;gnomADv4_1_AN_grpmax_joint=2768;gnomADv4_1_AN_joint=94474;gnomADv4_1_AN_joint_XX=50532;gnomADv4_1_AN_joint_XY=43942;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=634;gnomADv4_1_nhomalt_joint_XX=299;gnomADv4_1_nhomalt_joint_XY=335;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2773758 chrX_2773758_C_A C A 15 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=15;CADD_PHREDscore=1.163;CADD_Rawscore=0.021433;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.104-958C>A|||||||rs58854080||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2773758C>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-8308C>A|||||||rs58854080||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2773758C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.83-958C>A|||||||rs58854080||1||HGNC|HGNC:12806|1||||||||Ensembl||C|C||||chrX:g.2773758C>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-8308C>A|||||||rs58854080||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2773758C>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.104-958C>A|||||||rs58854080||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2773758C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.104-958C>A|||||||rs58854080||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2773758C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.104-958C>A|||||||rs58854080||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2773758C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.104-958C>A|||||||rs58854080||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2773758C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.104-958C>A|||||||rs58854080||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2773758C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.104-958C>A|||||||rs58854080||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2773758C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-958C>A|||||||rs58854080||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2773758C>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|2|-39|-36|12;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5;gnomADv4_1_AC_joint_XX=2;gnomADv4_1_AC_joint_XY=3;gnomADv4_1_AF_grpmax_joint=0.00181159;gnomADv4_1_AF_joint=0.000616219;gnomADv4_1_AF_joint_XX=0.000408998;gnomADv4_1_AF_joint_XY=0.000930521;gnomADv4_1_AN_grpmax_joint=1104;gnomADv4_1_AN_joint=8114;gnomADv4_1_AN_joint_XX=4890;gnomADv4_1_AN_joint_XY=3224;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2773774 chrX_2773774_C_A C A 13 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=13;CADD_PHREDscore=1.087;CADD_Rawscore=0.003946;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.104-942C>A|||||||rs61609553||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2773774C>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-8292C>A|||||||rs61609553||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2773774C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.83-942C>A|||||||rs61609553||1||HGNC|HGNC:12806|1||||||||Ensembl||C|C||||chrX:g.2773774C>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-8292C>A|||||||rs61609553||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2773774C>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.104-942C>A|||||||rs61609553||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2773774C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.104-942C>A|||||||rs61609553||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2773774C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.104-942C>A|||||||rs61609553||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2773774C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.104-942C>A|||||||rs61609553||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2773774C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.104-942C>A|||||||rs61609553||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2773774C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.104-942C>A|||||||rs61609553||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2773774C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-942C>A|||||||rs61609553||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2773774C>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|2|-39|5|-4;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=629;gnomADv4_1_AC_joint_XX=381;gnomADv4_1_AC_joint_XY=248;gnomADv4_1_AF_grpmax_joint=0.0603448;gnomADv4_1_AF_joint=0.0325772;gnomADv4_1_AF_joint_XX=0.0356275;gnomADv4_1_AF_joint_XY=0.0287903;gnomADv4_1_AN_grpmax_joint=348;gnomADv4_1_AN_joint=19308;gnomADv4_1_AN_joint_XX=10694;gnomADv4_1_AN_joint_XY=8614;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5;gnomADv4_1_nhomalt_joint_XX=4;gnomADv4_1_nhomalt_joint_XY=1;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2774420 chrX_2774420_A_G A G 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.563;CADD_Rawscore=-0.163504;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.104-296A>G|||||||rs311156||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2774420A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-7646A>G|||||||rs311156||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2774420A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.83-296A>G|||||||rs311156||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2774420A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-7646A>G|||||||rs311156||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2774420A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.104-296A>G|||||||rs311156||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2774420A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.104-296A>G|||||||rs311156||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2774420A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.104-296A>G|||||||rs311156||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2774420A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.104-296A>G|||||||rs311156||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2774420A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.104-296A>G|||||||rs311156||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2774420A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.104-296A>G|||||||rs311156||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2774420A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-296A>G|||||||rs311156||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2774420A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|25|2|20|24;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45837;gnomADv4_1_AC_joint_XX=23118;gnomADv4_1_AC_joint_XY=22719;gnomADv4_1_AF_grpmax_joint=0.46547;gnomADv4_1_AF_joint=0.321415;gnomADv4_1_AF_joint_XX=0.319036;gnomADv4_1_AF_joint_XY=0.323872;gnomADv4_1_AN_grpmax_joint=5068;gnomADv4_1_AN_joint=142610;gnomADv4_1_AN_joint_XX=72462;gnomADv4_1_AN_joint_XY=70148;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=7106;gnomADv4_1_nhomalt_joint_XX=3645;gnomADv4_1_nhomalt_joint_XY=3461;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2774422 chrX_2774422_C_CCCTGTG C CCCTGTG 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADDIndel_PHREDscore=0.388;CADDIndel_Rawscore=-0.257088;CSQ=CCTGTG|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.104-293_104-288dup|||||||rs3830300||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||6|chrX:g.2774423_2774428dup|||||||||||||,CCTGTG|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-7643_62-7638dup|||||||rs3830300||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||6|chrX:g.2774423_2774428dup|||||||||||||,CCTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.83-293_83-288dup|||||||rs3830300||1||HGNC|HGNC:12806|1||||||||Ensembl||||||6|chrX:g.2774423_2774428dup|||||||||||||,CCTGTG|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-7643_62-7638dup|||||||rs3830300||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||6|chrX:g.2774423_2774428dup|||||||||||||,CCTGTG|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.104-293_104-288dup|||||||rs3830300||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||6|chrX:g.2774423_2774428dup|||||||||||||,CCTGTG|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.104-293_104-288dup|||||||rs3830300||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||6|chrX:g.2774423_2774428dup|||||||||||||,CCTGTG|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.104-293_104-288dup|||||||rs3830300||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||6|chrX:g.2774423_2774428dup|||||||||||||,CCTGTG|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.104-293_104-288dup|||||||rs3830300||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||6|chrX:g.2774423_2774428dup|||||||||||||,CCTGTG|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.104-293_104-288dup|||||||rs3830300||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||6|chrX:g.2774423_2774428dup|||||||||||||,CCTGTG|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.104-293_104-288dup|||||||rs3830300||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||6|chrX:g.2774423_2774428dup|||||||||||||,CCTGTG|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-293_62-288dup|||||||rs3830300||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||6|chrX:g.2774423_2774428dup|||||||||||||;TYPE=INDEL;VEP_Allele=CCTGTG,CCTGTG,CCTGTG,CCTGTG,CCTGTG,CCTGTG,CCTGTG,CCTGTG,CCTGTG,CCTGTG,CCTGTG;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71647;gnomADv4_1_AC_joint_XX=36974;gnomADv4_1_AC_joint_XY=34673;gnomADv4_1_AF_grpmax_joint=0.531498;gnomADv4_1_AF_joint=0.476452;gnomADv4_1_AF_joint_XX=0.481821;gnomADv4_1_AF_joint_XY=0.470857;gnomADv4_1_AN_grpmax_joint=4794;gnomADv4_1_AN_joint=150376;gnomADv4_1_AN_joint_XX=76738;gnomADv4_1_AN_joint_XY=73638;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=17041;gnomADv4_1_nhomalt_joint_XX=9018;gnomADv4_1_nhomalt_joint_XY=8023;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2774556 chrX_2774556_T_C T C 43 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=0.269;CADD_Rawscore=-0.350253;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.104-160T>C|||||||rs311157||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2774556T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-7510T>C|||||||rs311157||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2774556T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.83-160T>C|||||||rs311157||1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2774556T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-7510T>C|||||||rs311157||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2774556T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.104-160T>C|||||||rs311157||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2774556T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.104-160T>C|||||||rs311157||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2774556T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.104-160T>C|||||||rs311157||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2774556T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.104-160T>C|||||||rs311157||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2774556T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.104-160T>C|||||||rs311157||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2774556T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.104-160T>C|||||||rs311157||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2774556T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-160T>C|||||||rs311157||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2774556T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|27|-12|47|-40;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80410;gnomADv4_1_AC_joint_XX=39042;gnomADv4_1_AC_joint_XY=41368;gnomADv4_1_AF_grpmax_joint=0.62768;gnomADv4_1_AF_joint=0.529738;gnomADv4_1_AF_joint_XX=0.503196;gnomADv4_1_AF_joint_XY=0.55749;gnomADv4_1_AN_grpmax_joint=41330;gnomADv4_1_AN_joint=151792;gnomADv4_1_AN_joint_XX=77588;gnomADv4_1_AN_joint_XY=74204;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=21572;gnomADv4_1_nhomalt_joint_XX=9972;gnomADv4_1_nhomalt_joint_XY=11600;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2774669 chrX_2774669_A_G A G 37 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.096;CADD_Rawscore=-0.621099;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||2/9|ENST00000381174.10:c.104-47A>G|||||||rs2259750||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2774669A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-7397A>G|||||||rs2259750||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2774669A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||2/2|ENST00000503018.1:n.83-47A>G|||||||rs2259750||1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2774669A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-7397A>G|||||||rs2259750||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2774669A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||2/10|ENST00000644266.2:c.104-47A>G|||||||rs2259750||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2774669A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||2/10|NM_001141919.2:c.104-47A>G|||||||rs2259750||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2774669A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||2/9|NM_001141920.2:c.104-47A>G|||||||rs2259750||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2774669A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||2/9|NM_175569.3:c.104-47A>G|||||||rs2259750||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2774669A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||2/10|XM_005274587.5:c.104-47A>G|||||||rs2259750||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2774669A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||2/7|XM_011545575.4:c.104-47A>G|||||||rs2259750||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2774669A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||1/9|XM_017029787.3:c.62-47A>G|||||||rs2259750||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2774669A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|47|13|-29|-39;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=347536;gnomADv4_1_AC_joint_XX=139668;gnomADv4_1_AC_joint_XY=207868;gnomADv4_1_AF_grpmax_joint=0.444145;gnomADv4_1_AF_joint=0.215693;gnomADv4_1_AF_joint_XX=0.172187;gnomADv4_1_AF_joint_XY=0.259799;gnomADv4_1_AN_grpmax_joint=44830;gnomADv4_1_AN_joint=1611250;gnomADv4_1_AN_joint_XX=811140;gnomADv4_1_AN_joint_XY=800110;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=37818;gnomADv4_1_nhomalt_joint_XX=12529;gnomADv4_1_nhomalt_joint_XY=25289;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2775134 chrX_2775134_A_C A C 46 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=1.87;CADD_Rawscore=0.146189;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.127+395A>C|||||||rs311158||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2775134A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-6932A>C|||||||rs311158||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2775134A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs311158|138|1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2775134A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-6932A>C|||||||rs311158||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2775134A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.127+395A>C|||||||rs311158||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2775134A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.127+395A>C|||||||rs311158||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2775134A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.127+395A>C|||||||rs311158||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2775134A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.127+395A>C|||||||rs311158||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2775134A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.127+395A>C|||||||rs311158||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2775134A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.127+395A>C|||||||rs311158||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2775134A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.85+395A>C|||||||rs311158||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2775134A>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-10|-11|-9|-11;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=108050;gnomADv4_1_AC_joint_XX=51961;gnomADv4_1_AC_joint_XY=56089;gnomADv4_1_AF_grpmax_joint=0.599886;gnomADv4_1_AF_joint=0.517724;gnomADv4_1_AF_joint_XX=0.492157;gnomADv4_1_AF_joint_XY=0.543899;gnomADv4_1_AN_grpmax_joint=44010;gnomADv4_1_AN_joint=208702;gnomADv4_1_AN_joint_XX=105578;gnomADv4_1_AN_joint_XY=103124;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=28481;gnomADv4_1_nhomalt_joint_XX=13047;gnomADv4_1_nhomalt_joint_XY=15434;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2775583 chrX_2775583_G_A G A 38 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=38;CADD_PHREDscore=0.596;CADD_Rawscore=-0.149155;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.127+844G>A|||||||rs311159||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2775583G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-6483G>A|||||||rs311159||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2775583G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs311159|587|1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2775583G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-6483G>A|||||||rs311159||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2775583G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.127+844G>A|||||||rs311159||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2775583G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.127+844G>A|||||||rs311159||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2775583G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.127+844G>A|||||||rs311159||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2775583G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.127+844G>A|||||||rs311159||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2775583G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.127+844G>A|||||||rs311159||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2775583G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.127+844G>A|||||||rs311159||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2775583G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.85+844G>A|||||||rs311159||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2775583G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|-14|-33|-33|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=79200;gnomADv4_1_AC_joint_XX=38208;gnomADv4_1_AC_joint_XY=40992;gnomADv4_1_AF_grpmax_joint=0.596866;gnomADv4_1_AF_joint=0.521382;gnomADv4_1_AF_joint_XX=0.491965;gnomADv4_1_AF_joint_XY=0.552155;gnomADv4_1_AN_grpmax_joint=41418;gnomADv4_1_AN_joint=151904;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=74240;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20787;gnomADv4_1_nhomalt_joint_XX=9490;gnomADv4_1_nhomalt_joint_XY=11297;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2775783 chrX_2775783_T_C T C 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=0.866;CADD_Rawscore=-0.054852;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.127+1044T>C|||||||rs311160||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2775783T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-6283T>C|||||||rs311160||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2775783T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs311160|787|1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2775783T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-6283T>C|||||||rs311160||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2775783T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.127+1044T>C|||||||rs311160||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2775783T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.127+1044T>C|||||||rs311160||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2775783T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.127+1044T>C|||||||rs311160||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2775783T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.127+1044T>C|||||||rs311160||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2775783T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.127+1044T>C|||||||rs311160||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2775783T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.127+1044T>C|||||||rs311160||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2775783T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.85+1044T>C|||||||rs311160||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2775783T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|1|28|1|-41;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=118521;gnomADv4_1_AC_joint_XX=62013;gnomADv4_1_AC_joint_XY=56508;gnomADv4_1_AF_grpmax_joint=0.944531;gnomADv4_1_AF_joint=0.785198;gnomADv4_1_AF_joint_XX=0.801823;gnomADv4_1_AF_joint_XY=0.76773;gnomADv4_1_AN_grpmax_joint=5120;gnomADv4_1_AN_joint=150944;gnomADv4_1_AN_joint_XX=77340;gnomADv4_1_AN_joint_XY=73604;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=46981;gnomADv4_1_nhomalt_joint_XX=25022;gnomADv4_1_nhomalt_joint_XY=21959;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2775967 chrX_2775967_AAAAAAG_A AAAAAAG A 36 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=36;CADDIndel_PHREDscore=0.512;CADDIndel_Rawscore=-0.187071;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.127+1233_127+1238del|||||||rs371481341||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||AAAAAG|AAAAAG|||4|chrX:g.2775972_2775977del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-6094_62-6089del|||||||rs371481341||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||AAAAAG|AAAAAG|||4|chrX:g.2775972_2775977del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs371481341|972|1||HGNC|HGNC:12806|1||||||||Ensembl||AAAAAG|AAAAAG||||chrX:g.2775972_2775977del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-6094_62-6089del|||||||rs371481341||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||AAAAAG|AAAAAG|||4|chrX:g.2775972_2775977del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.127+1233_127+1238del|||||||rs371481341||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||AAAAAG|AAAAAG|||4|chrX:g.2775972_2775977del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.127+1233_127+1238del|||||||rs371481341||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||AAAAAG|AAAAAG|||4|chrX:g.2775972_2775977del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.127+1233_127+1238del|||||||rs371481341||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||AAAAAG|AAAAAG|||4|chrX:g.2775972_2775977del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.127+1233_127+1238del|||||||rs371481341||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||AAAAAG|AAAAAG|||4|chrX:g.2775972_2775977del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.127+1233_127+1238del|||||||rs371481341||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||AAAAAG|AAAAAG|||4|chrX:g.2775972_2775977del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.127+1233_127+1238del|||||||rs371481341||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||AAAAAG|AAAAAG|||4|chrX:g.2775972_2775977del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.85+1233_85+1238del|||||||rs371481341||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||AAAAAG|AAAAAG|||4|chrX:g.2775972_2775977del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60238;gnomADv4_1_AC_joint_XX=34610;gnomADv4_1_AC_joint_XY=25628;gnomADv4_1_AF_grpmax_joint=0.844522;gnomADv4_1_AF_joint=0.566157;gnomADv4_1_AF_joint_XX=0.642568;gnomADv4_1_AF_joint_XY=0.487818;gnomADv4_1_AN_grpmax_joint=3158;gnomADv4_1_AN_joint=106398;gnomADv4_1_AN_joint_XX=53862;gnomADv4_1_AN_joint_XY=52536;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16081;gnomADv4_1_nhomalt_joint_XX=10750;gnomADv4_1_nhomalt_joint_XY=5331;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2776137 chrX_2776137_G_GCCACA G GCCACA 49 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADDIndel_PHREDscore=1.151;CADDIndel_Rawscore=0.018716;CSQ=CCACA|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.127+1399_127+1400insCACAC|||||||rs112316188||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||1|chrX:g.2776138_2776139insCACAC|||||||||||||,CCACA|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-5928_62-5927insCACAC|||||||rs112316188||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||1|chrX:g.2776138_2776139insCACAC|||||||||||||,CCACA|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs112316188|1141|1||HGNC|HGNC:12806|1||||||||Ensembl|||||||chrX:g.2776138_2776139insCACAC|||||||||||||,CCACA|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-5928_62-5927insCACAC|||||||rs112316188||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||1|chrX:g.2776138_2776139insCACAC|||||||||||||,CCACA|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.127+1399_127+1400insCACAC|||||||rs112316188||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||1|chrX:g.2776138_2776139insCACAC|||||||||||||,CCACA|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.127+1399_127+1400insCACAC|||||||rs112316188||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||1|chrX:g.2776138_2776139insCACAC|||||||||||||,CCACA|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.127+1399_127+1400insCACAC|||||||rs112316188||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||1|chrX:g.2776138_2776139insCACAC|||||||||||||,CCACA|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.127+1399_127+1400insCACAC|||||||rs112316188||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||1|chrX:g.2776138_2776139insCACAC|||||||||||||,CCACA|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.127+1399_127+1400insCACAC|||||||rs112316188||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||1|chrX:g.2776138_2776139insCACAC|||||||||||||,CCACA|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.127+1399_127+1400insCACAC|||||||rs112316188||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||1|chrX:g.2776138_2776139insCACAC|||||||||||||,CCACA|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.85+1399_85+1400insCACAC|||||||rs112316188||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||1|chrX:g.2776138_2776139insCACAC|||||||||||||;TYPE=INDEL;VEP_Allele=CCACA,CCACA,CCACA,CCACA,CCACA,CCACA,CCACA,CCACA,CCACA,CCACA,CCACA;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88223;gnomADv4_1_AC_joint_XX=48095;gnomADv4_1_AC_joint_XY=40128;gnomADv4_1_AF_grpmax_joint=0.708904;gnomADv4_1_AF_joint=0.582576;gnomADv4_1_AF_joint_XX=0.620821;gnomADv4_1_AF_joint_XY=0.54252;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=151436;gnomADv4_1_AN_joint_XX=77470;gnomADv4_1_AN_joint_XY=73966;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=26424;gnomADv4_1_nhomalt_joint_XX=15357;gnomADv4_1_nhomalt_joint_XY=11067;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2776199 chrX_2776199_G_T G T 57 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=57;CADD_PHREDscore=0.532;CADD_Rawscore=-0.17747;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.127+1460G>T|||||||rs311161||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2776199G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-5867G>T|||||||rs311161||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2776199G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs311161|1203|1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2776199G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-5867G>T|||||||rs311161||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2776199G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.127+1460G>T|||||||rs311161||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2776199G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.127+1460G>T|||||||rs311161||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2776199G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.127+1460G>T|||||||rs311161||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2776199G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.127+1460G>T|||||||rs311161||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2776199G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.127+1460G>T|||||||rs311161||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2776199G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.127+1460G>T|||||||rs311161||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2776199G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.85+1460G>T|||||||rs311161||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2776199G>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|-31|1|7|-1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=119484;gnomADv4_1_AC_joint_XX=58626;gnomADv4_1_AC_joint_XY=60858;gnomADv4_1_AF_grpmax_joint=0.953101;gnomADv4_1_AF_joint=0.78727;gnomADv4_1_AF_joint_XX=0.755451;gnomADv4_1_AF_joint_XY=0.820565;gnomADv4_1_AN_grpmax_joint=5160;gnomADv4_1_AN_joint=151770;gnomADv4_1_AN_joint_XX=77604;gnomADv4_1_AN_joint_XY=74166;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=47717;gnomADv4_1_nhomalt_joint_XX=22652;gnomADv4_1_nhomalt_joint_XY=25065;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2776388 chrX_2776388_G_A G A 22 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=22;CADD_PHREDscore=2.07;CADD_Rawscore=0.173071;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.127+1649G>A|||||||rs2534625||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2776388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-5678G>A|||||||rs2534625||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2776388G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs2534625|1392|1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2776388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-5678G>A|||||||rs2534625||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2776388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.127+1649G>A|||||||rs2534625||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2776388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.127+1649G>A|||||||rs2534625||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2776388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.127+1649G>A|||||||rs2534625||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2776388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.127+1649G>A|||||||rs2534625||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2776388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.127+1649G>A|||||||rs2534625||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2776388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.127+1649G>A|||||||rs2534625||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2776388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.85+1649G>A|||||||rs2534625||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2776388G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|-45|-5|45|-13;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68302;gnomADv4_1_AC_joint_XX=34517;gnomADv4_1_AC_joint_XY=33785;gnomADv4_1_AF_grpmax_joint=0.56507;gnomADv4_1_AF_joint=0.457936;gnomADv4_1_AF_joint_XX=0.455754;gnomADv4_1_AF_joint_XY=0.460186;gnomADv4_1_AN_grpmax_joint=67374;gnomADv4_1_AN_joint=149152;gnomADv4_1_AN_joint_XX=75736;gnomADv4_1_AN_joint_XY=73416;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13347;gnomADv4_1_nhomalt_joint_XX=6225;gnomADv4_1_nhomalt_joint_XY=7122;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2776425 chrX_2776425_A_G A G 19 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=19;CADD_PHREDscore=1.24;CADD_Rawscore=0.038262;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.127+1686A>G|||||||rs186507472||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2776425A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-5641A>G|||||||rs186507472||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2776425A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs186507472|1429|1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2776425A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-5641A>G|||||||rs186507472||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2776425A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.127+1686A>G|||||||rs186507472||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2776425A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.127+1686A>G|||||||rs186507472||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2776425A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.127+1686A>G|||||||rs186507472||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2776425A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.127+1686A>G|||||||rs186507472||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2776425A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.127+1686A>G|||||||rs186507472||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2776425A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.127+1686A>G|||||||rs186507472||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2776425A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.85+1686A>G|||||||rs186507472||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2776425A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|1|13|21|-50;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1343;gnomADv4_1_AC_joint_XX=94;gnomADv4_1_AC_joint_XY=1249;gnomADv4_1_AF_grpmax_joint=0.0525219;gnomADv4_1_AF_joint=0.0088245;gnomADv4_1_AF_joint_XX=0.00120832;gnomADv4_1_AF_joint_XY=0.0167885;gnomADv4_1_AN_grpmax_joint=4798;gnomADv4_1_AN_joint=152190;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=74396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=2;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2776553 chrX_2776553_T_G T G 50 . AC=4;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=0;AC_Hom_XY=2;AC_XX=1;AC_XY=3;AF=0.666667;AF_XX=0.5;AF_XY=0.75;AN=6;AN_XX=2;AN_XY=4;AQ=50;CADD_PHREDscore=1.82;CADD_Rawscore=0.138965;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.127+1814T>G|||||||rs2534626||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2776553T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-5513T>G|||||||rs2534626||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2776553T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs2534626|1557|1||HGNC|HGNC:12806|1||||||||Ensembl||T|T||||chrX:g.2776553T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-5513T>G|||||||rs2534626||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2776553T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.127+1814T>G|||||||rs2534626||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2776553T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.127+1814T>G|||||||rs2534626||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2776553T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.127+1814T>G|||||||rs2534626||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2776553T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.127+1814T>G|||||||rs2534626||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2776553T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.127+1814T>G|||||||rs2534626||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2776553T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.127+1814T>G|||||||rs2534626||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2776553T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.85+1814T>G|||||||rs2534626||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2776553T>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|-13|47|-13|47;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=86276;gnomADv4_1_AC_joint_XX=41482;gnomADv4_1_AC_joint_XY=44794;gnomADv4_1_AF_grpmax_joint=0.771376;gnomADv4_1_AF_joint=0.589333;gnomADv4_1_AF_joint_XX=0.557134;gnomADv4_1_AF_joint_XY=0.622658;gnomADv4_1_AN_grpmax_joint=4912;gnomADv4_1_AN_joint=146396;gnomADv4_1_AN_joint_XX=74456;gnomADv4_1_AN_joint_XY=71940;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=23742;gnomADv4_1_nhomalt_joint_XX=10166;gnomADv4_1_nhomalt_joint_XY=13576;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=0.0;numhomalt_XY=1.0 +chrX 2776608 chrX_2776608_A_G A G 53 . AC=6;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=6;AC_Hom_XX=2;AC_Hom_XY=4;AC_XX=2;AC_XY=4;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=3.931;CADD_Rawscore=0.359117;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.127+1869A>G|||||||rs311162||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2776608A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-5458A>G|||||||rs311162||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2776608A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs311162|1612|1||HGNC|HGNC:12806|1||||||||Ensembl||A|A||||chrX:g.2776608A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-5458A>G|||||||rs311162||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2776608A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.127+1869A>G|||||||rs311162||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2776608A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.127+1869A>G|||||||rs311162||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2776608A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.127+1869A>G|||||||rs311162||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2776608A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.127+1869A>G|||||||rs311162||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2776608A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.127+1869A>G|||||||rs311162||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2776608A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.127+1869A>G|||||||rs311162||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2776608A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.85+1869A>G|||||||rs311162||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2776608A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|41|-8|-8|25;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=129517;gnomADv4_1_AC_joint_XX=63513;gnomADv4_1_AC_joint_XY=66004;gnomADv4_1_AF_grpmax_joint=0.942111;gnomADv4_1_AF_joint=0.861356;gnomADv4_1_AF_joint_XX=0.829498;gnomADv4_1_AF_joint_XY=0.894412;gnomADv4_1_AN_grpmax_joint=40422;gnomADv4_1_AN_joint=150364;gnomADv4_1_AN_joint_XX=76568;gnomADv4_1_AN_joint_XY=73796;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=55894;gnomADv4_1_nhomalt_joint_XX=26460;gnomADv4_1_nhomalt_joint_XY=29434;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=3.0;numhomalt_XX=1.0;numhomalt_XY=2.0 +chrX 2776765 chrX_2776765_G_A G A 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.166667;AF_XX=0.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADD_PHREDscore=0.622;CADD_Rawscore=-0.138479;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.127+2026G>A|||||||rs2534627||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2776765G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-5301G>A|||||||rs2534627||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2776765G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs2534627|1769|1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2776765G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-5301G>A|||||||rs2534627||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2776765G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.127+2026G>A|||||||rs2534627||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2776765G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.127+2026G>A|||||||rs2534627||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2776765G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.127+2026G>A|||||||rs2534627||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2776765G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.127+2026G>A|||||||rs2534627||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2776765G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.127+2026G>A|||||||rs2534627||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2776765G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.127+2026G>A|||||||rs2534627||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2776765G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.85+2026G>A|||||||rs2534627||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2776765G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|13|-9|-3|24;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54385;gnomADv4_1_AC_joint_XX=14274;gnomADv4_1_AC_joint_XY=40111;gnomADv4_1_AF_grpmax_joint=0.56405;gnomADv4_1_AF_joint=0.358409;gnomADv4_1_AF_joint_XX=0.183853;gnomADv4_1_AF_joint_XY=0.541294;gnomADv4_1_AN_grpmax_joint=41358;gnomADv4_1_AN_joint=151740;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=74102;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=8730;gnomADv4_1_nhomalt_joint_XX=2487;gnomADv4_1_nhomalt_joint_XY=6243;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2779558 chrX_2779558_C_A C A 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=0.178;CADD_Rawscore=-0.457043;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-2508C>A|||||||rs2534633||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2779558C>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-2508C>A|||||||rs2534633||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2779558C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs2534633|4562|1||HGNC|HGNC:12806|1||||||||Ensembl||C|C||||chrX:g.2779558C>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-2508C>A|||||||rs2534633||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2779558C>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-2508C>A|||||||rs2534633||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2779558C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-2508C>A|||||||rs2534633||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2779558C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-2508C>A|||||||rs2534633||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2779558C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-2508C>A|||||||rs2534633||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2779558C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-2508C>A|||||||rs2534633||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2779558C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-2508C>A|||||||rs2534633||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2779558C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-2508C>A|||||||rs2534633||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2779558C>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|24|8|47|8;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35249;gnomADv4_1_AC_joint_XX=447;gnomADv4_1_AC_joint_XY=34802;gnomADv4_1_AF_grpmax_joint=0.373389;gnomADv4_1_AF_joint=0.232146;gnomADv4_1_AF_joint_XX=0.00575156;gnomADv4_1_AF_joint_XY=0.469523;gnomADv4_1_AN_grpmax_joint=4810;gnomADv4_1_AN_joint=151840;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=74122;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=172;gnomADv4_1_nhomalt_joint_XX=5;gnomADv4_1_nhomalt_joint_XY=167;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2779804 chrX_2779804_C_T C T 49 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=49;CADD_PHREDscore=0.411;CADD_Rawscore=-0.242347;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-2262C>T|||||||rs2857318||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2779804C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-2262C>T|||||||rs2857318||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2779804C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs2857318|4808|1||HGNC|HGNC:12806|1||||||||Ensembl||C|C||||chrX:g.2779804C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-2262C>T|||||||rs2857318||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2779804C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-2262C>T|||||||rs2857318||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2779804C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-2262C>T|||||||rs2857318||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2779804C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-2262C>T|||||||rs2857318||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2779804C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-2262C>T|||||||rs2857318||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2779804C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-2262C>T|||||||rs2857318||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2779804C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-2262C>T|||||||rs2857318||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2779804C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-2262C>T|||||||rs2857318||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2779804C>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|-14|28|-8|-15;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43111;gnomADv4_1_AC_joint_XX=5612;gnomADv4_1_AC_joint_XY=37499;gnomADv4_1_AF_grpmax_joint=0.398309;gnomADv4_1_AF_joint=0.284295;gnomADv4_1_AF_joint_XX=0.0723308;gnomADv4_1_AF_joint_XY=0.506374;gnomADv4_1_AN_grpmax_joint=41282;gnomADv4_1_AN_joint=151642;gnomADv4_1_AN_joint_XX=77588;gnomADv4_1_AN_joint_XY=74054;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2933;gnomADv4_1_nhomalt_joint_XX=587;gnomADv4_1_nhomalt_joint_XY=2346;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2779827 chrX_2779827_G_A G A 42 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=42;CADD_PHREDscore=1.1;CADD_Rawscore=0.006852;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-2239G>A|||||||rs2534634||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2779827G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-2239G>A|||||||rs2534634||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2779827G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000503018|retained_intron||||||||||rs2534634|4831|1||HGNC|HGNC:12806|1||||||||Ensembl||G|G||||chrX:g.2779827G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-2239G>A|||||||rs2534634||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2779827G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-2239G>A|||||||rs2534634||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2779827G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-2239G>A|||||||rs2534634||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2779827G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-2239G>A|||||||rs2534634||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2779827G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-2239G>A|||||||rs2534634||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2779827G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-2239G>A|||||||rs2534634||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2779827G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-2239G>A|||||||rs2534634||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2779827G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-2239G>A|||||||rs2534634||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2779827G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|2|5|2|-38;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000503018,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42696;gnomADv4_1_AC_joint_XX=5336;gnomADv4_1_AC_joint_XY=37360;gnomADv4_1_AF_grpmax_joint=0.39005;gnomADv4_1_AF_joint=0.281833;gnomADv4_1_AF_joint_XX=0.0688534;gnomADv4_1_AF_joint_XY=0.504892;gnomADv4_1_AN_grpmax_joint=41246;gnomADv4_1_AN_joint=151494;gnomADv4_1_AN_joint_XX=77498;gnomADv4_1_AN_joint_XY=73996;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2766;gnomADv4_1_nhomalt_joint_XX=527;gnomADv4_1_nhomalt_joint_XY=2239;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2780409 chrX_2780409_C_CT C CT 30 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.5;AF_XX=.;AF_XY=0.5;AN=2;AN_XX=0;AN_XY=2;AQ=30;CADDIndel_PHREDscore=0.826;CADDIndel_Rawscore=-0.067071;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-1643dup|||||||rs761736293||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||14|chrX:g.2780423dup|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-1643dup|||||||rs761736293||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||14|chrX:g.2780423dup|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-1643dup|||||||rs761736293||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||14|chrX:g.2780423dup|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-1643dup|||||||rs761736293||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||14|chrX:g.2780423dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-1643dup|||||||rs761736293||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||14|chrX:g.2780423dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-1643dup|||||||rs761736293||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||14|chrX:g.2780423dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-1643dup|||||||rs761736293||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||14|chrX:g.2780423dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-1643dup|||||||rs761736293||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||14|chrX:g.2780423dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-1643dup|||||||rs761736293||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||14|chrX:g.2780423dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-1643dup|||||||rs761736293||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||14|chrX:g.2780423dup|||||||||||||;SpliceAI=CT|XG|0.00|0.00|0.00|0.00|32|28|44|49;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40450;gnomADv4_1_AC_joint_XX=6886;gnomADv4_1_AC_joint_XY=33564;gnomADv4_1_AF_grpmax_joint=0.404202;gnomADv4_1_AF_joint=0.330955;gnomADv4_1_AF_joint_XX=0.115039;gnomADv4_1_AF_joint_XY=0.538195;gnomADv4_1_AN_grpmax_joint=34030;gnomADv4_1_AN_joint=122222;gnomADv4_1_AN_joint_XX=59858;gnomADv4_1_AN_joint_XY=62364;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=3445;gnomADv4_1_nhomalt_joint_XX=530;gnomADv4_1_nhomalt_joint_XY=2915;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2780425 chrX_2780425_T_TA T TA 37 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.5;AF_XX=1.0;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=37;CADDIndel_PHREDscore=0.712;CADDIndel_Rawscore=-0.104516;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-1627dup|||||||rs751220927||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||14|chrX:g.2780439dup|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-1627dup|||||||rs751220927||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||14|chrX:g.2780439dup|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-1627dup|||||||rs751220927||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||14|chrX:g.2780439dup|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-1627dup|||||||rs751220927||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||14|chrX:g.2780439dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-1627dup|||||||rs751220927||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||14|chrX:g.2780439dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-1627dup|||||||rs751220927||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||14|chrX:g.2780439dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-1627dup|||||||rs751220927||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||14|chrX:g.2780439dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-1627dup|||||||rs751220927||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||14|chrX:g.2780439dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-1627dup|||||||rs751220927||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||14|chrX:g.2780439dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-1627dup|||||||rs751220927||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||14|chrX:g.2780439dup|||||||||||||;SpliceAI=TA|XG|0.00|0.00|0.00|0.00|24|16|28|33;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58690;gnomADv4_1_AC_joint_XX=40878;gnomADv4_1_AC_joint_XY=17812;gnomADv4_1_AF_grpmax_joint=0.61811;gnomADv4_1_AF_joint=0.463784;gnomADv4_1_AF_joint_XX=0.598857;gnomADv4_1_AF_joint_XY=0.305597;gnomADv4_1_AN_grpmax_joint=254;gnomADv4_1_AN_joint=126546;gnomADv4_1_AN_joint_XX=68260;gnomADv4_1_AN_joint_XY=58286;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=13723;gnomADv4_1_nhomalt_joint_XX=13629;gnomADv4_1_nhomalt_joint_XY=94;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2780728 chrX_2780728_AAG_A AAG A 44 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=44;CADDIndel_PHREDscore=0.795;CADDIndel_Rawscore=-0.076647;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-1336_128-1335del|||||||rs111344644||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||AG|AG|||1|chrX:g.2780730_2780731del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-1336_62-1335del|||||||rs111344644||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||AG|AG|||1|chrX:g.2780730_2780731del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-1336_62-1335del|||||||rs111344644||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||AG|AG|||1|chrX:g.2780730_2780731del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-1336_128-1335del|||||||rs111344644||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||AG|AG|||1|chrX:g.2780730_2780731del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-1336_128-1335del|||||||rs111344644||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||AG|AG|||1|chrX:g.2780730_2780731del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-1336_128-1335del|||||||rs111344644||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||AG|AG|||1|chrX:g.2780730_2780731del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-1336_128-1335del|||||||rs111344644||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||AG|AG|||1|chrX:g.2780730_2780731del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-1336_128-1335del|||||||rs111344644||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||AG|AG|||1|chrX:g.2780730_2780731del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-1336_128-1335del|||||||rs111344644||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||AG|AG|||1|chrX:g.2780730_2780731del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-1336_86-1335del|||||||rs111344644||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||AG|AG|||1|chrX:g.2780730_2780731del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_934RN|enhancer||||||||||rs111344644|||||||||||||||||||||chrX:g.2780730_2780731del|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|31|3|9|30;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3,ENSRX_934RN;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499,.;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=50402;gnomADv4_1_AC_joint_XX=10199;gnomADv4_1_AC_joint_XY=40203;gnomADv4_1_AF_grpmax_joint=0.396096;gnomADv4_1_AF_joint=0.336763;gnomADv4_1_AF_joint_XX=0.132544;gnomADv4_1_AF_joint_XY=0.552862;gnomADv4_1_AN_grpmax_joint=4764;gnomADv4_1_AN_joint=149666;gnomADv4_1_AN_joint_XX=76948;gnomADv4_1_AN_joint_XY=72718;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5061;gnomADv4_1_nhomalt_joint_XX=719;gnomADv4_1_nhomalt_joint_XY=4342;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2780882 chrX_2780882_G_A G A 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=2.899;CADD_Rawscore=0.26474;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-1184G>A|||||||rs2857317||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2780882G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-1184G>A|||||||rs2857317||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2780882G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-1184G>A|||||||rs2857317||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2780882G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-1184G>A|||||||rs2857317||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2780882G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-1184G>A|||||||rs2857317||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2780882G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-1184G>A|||||||rs2857317||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2780882G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-1184G>A|||||||rs2857317||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2780882G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-1184G>A|||||||rs2857317||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2780882G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-1184G>A|||||||rs2857317||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2780882G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-1184G>A|||||||rs2857317||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2780882G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_934RN|enhancer||||||||||rs2857317|||||||||||||||||||||chrX:g.2780882G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|23|-16|-3|-44;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3,ENSRX_934RN;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499,.;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40434;gnomADv4_1_AC_joint_XX=2720;gnomADv4_1_AC_joint_XY=37714;gnomADv4_1_AF_grpmax_joint=0.383098;gnomADv4_1_AF_joint=0.266223;gnomADv4_1_AF_joint_XX=0.0350254;gnomADv4_1_AF_joint_XY=0.508124;gnomADv4_1_AN_grpmax_joint=4816;gnomADv4_1_AN_joint=151880;gnomADv4_1_AN_joint_XX=77658;gnomADv4_1_AN_joint_XY=74222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1365;gnomADv4_1_nhomalt_joint_XX=137;gnomADv4_1_nhomalt_joint_XY=1228;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2780913 chrX_2780913_G_A G A 53 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=0;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.333333;AF_XX=0.0;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=53;CADD_PHREDscore=3.685;CADD_Rawscore=0.337236;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-1153G>A|||||||rs2857316||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2780913G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-1153G>A|||||||rs2857316||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2780913G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-1153G>A|||||||rs2857316||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2780913G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-1153G>A|||||||rs2857316||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2780913G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-1153G>A|||||||rs2857316||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2780913G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-1153G>A|||||||rs2857316||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2780913G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-1153G>A|||||||rs2857316||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2780913G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-1153G>A|||||||rs2857316||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2780913G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-1153G>A|||||||rs2857316||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2780913G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-1153G>A|||||||rs2857316||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2780913G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_934RN|enhancer||||||||||rs2857316|||||||||||||||||||||chrX:g.2780913G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|-47|17|28|-9;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3,ENSRX_934RN;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499,.;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56351;gnomADv4_1_AC_joint_XX=13710;gnomADv4_1_AC_joint_XY=42641;gnomADv4_1_AF_grpmax_joint=0.446017;gnomADv4_1_AF_joint=0.371684;gnomADv4_1_AF_joint_XX=0.176734;gnomADv4_1_AF_joint_XY=0.57595;gnomADv4_1_AN_grpmax_joint=41346;gnomADv4_1_AN_joint=151610;gnomADv4_1_AN_joint_XX=77574;gnomADv4_1_AN_joint_XY=74036;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7551;gnomADv4_1_nhomalt_joint_XX=1471;gnomADv4_1_nhomalt_joint_XY=6080;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=0.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2781146 chrX_2781146_T_C T C 39 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=39;CADD_PHREDscore=1.321;CADD_Rawscore=0.054834;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-920T>C|||||||rs147962110||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2781146T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-920T>C|||||||rs147962110||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2781146T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-920T>C|||||||rs147962110||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2781146T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-920T>C|||||||rs147962110||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2781146T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-920T>C|||||||rs147962110||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2781146T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-920T>C|||||||rs147962110||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2781146T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-920T>C|||||||rs147962110||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2781146T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-920T>C|||||||rs147962110||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2781146T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-920T>C|||||||rs147962110||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2781146T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-920T>C|||||||rs147962110||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2781146T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_934RN|enhancer||||||||||rs147962110|||||||||||||||||||||chrX:g.2781146T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-35|12|-23|-26;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3,ENSRX_934RN;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499,.;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36980;gnomADv4_1_AC_joint_XX=25084;gnomADv4_1_AC_joint_XY=11896;gnomADv4_1_AF_grpmax_joint=0.468411;gnomADv4_1_AF_joint=0.244109;gnomADv4_1_AF_joint_XX=0.324091;gnomADv4_1_AF_joint_XY=0.160557;gnomADv4_1_AN_grpmax_joint=41122;gnomADv4_1_AN_joint=151490;gnomADv4_1_AN_joint_XX=77398;gnomADv4_1_AN_joint_XY=74092;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5525;gnomADv4_1_nhomalt_joint_XX=5484;gnomADv4_1_nhomalt_joint_XY=41;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2781147 chrX_2781147_G_C G C 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=40;CADD_PHREDscore=0.754;CADD_Rawscore=-0.090129;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-919G>C|||||||rs189310269||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2781147G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-919G>C|||||||rs189310269||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2781147G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-919G>C|||||||rs189310269||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2781147G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-919G>C|||||||rs189310269||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2781147G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-919G>C|||||||rs189310269||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2781147G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-919G>C|||||||rs189310269||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2781147G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-919G>C|||||||rs189310269||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2781147G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-919G>C|||||||rs189310269||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2781147G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-919G>C|||||||rs189310269||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2781147G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-919G>C|||||||rs189310269||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2781147G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_934RN|enhancer||||||||||rs189310269|||||||||||||||||||||chrX:g.2781147G>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|11|-36|11|18;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3,ENSRX_934RN;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499,.;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36581;gnomADv4_1_AC_joint_XX=24819;gnomADv4_1_AC_joint_XY=11762;gnomADv4_1_AF_grpmax_joint=0.459342;gnomADv4_1_AF_joint=0.241507;gnomADv4_1_AF_joint_XX=0.320684;gnomADv4_1_AF_joint_XY=0.158783;gnomADv4_1_AN_grpmax_joint=41124;gnomADv4_1_AN_joint=151470;gnomADv4_1_AN_joint_XX=77394;gnomADv4_1_AN_joint_XY=74076;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5366;gnomADv4_1_nhomalt_joint_XX=5326;gnomADv4_1_nhomalt_joint_XY=40;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2781148 chrX_2781148_T_C T C 43 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=43;CADD_PHREDscore=3.302;CADD_Rawscore=0.302708;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-918T>C|||||||rs180883975||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2781148T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-918T>C|||||||rs180883975||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2781148T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-918T>C|||||||rs180883975||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2781148T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-918T>C|||||||rs180883975||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2781148T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-918T>C|||||||rs180883975||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2781148T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-918T>C|||||||rs180883975||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2781148T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-918T>C|||||||rs180883975||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2781148T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-918T>C|||||||rs180883975||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2781148T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-918T>C|||||||rs180883975||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2781148T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-918T>C|||||||rs180883975||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2781148T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_934RN|enhancer||||||||||rs180883975|||||||||||||||||||||chrX:g.2781148T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-37|10|17|-11;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3,ENSRX_934RN;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499,.;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36581;gnomADv4_1_AC_joint_XX=24819;gnomADv4_1_AC_joint_XY=11762;gnomADv4_1_AF_grpmax_joint=0.459393;gnomADv4_1_AF_joint=0.241456;gnomADv4_1_AF_joint_XX=0.320675;gnomADv4_1_AF_joint_XY=0.158719;gnomADv4_1_AN_grpmax_joint=41126;gnomADv4_1_AN_joint=151502;gnomADv4_1_AN_joint_XX=77396;gnomADv4_1_AN_joint_XY=74106;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5365;gnomADv4_1_nhomalt_joint_XX=5326;gnomADv4_1_nhomalt_joint_XY=39;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2781205 chrX_2781205_C_A C A 48 . AC=3;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=3;AC_Het_XX=1;AC_Het_XY=2;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=6;AN_XX=2;AN_XY=4;AQ=48;CADD_PHREDscore=0.664;CADD_Rawscore=-0.12236;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-861C>A|||||||rs2534635||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2781205C>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-861C>A|||||||rs2534635||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2781205C>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-861C>A|||||||rs2534635||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2781205C>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-861C>A|||||||rs2534635||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2781205C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-861C>A|||||||rs2534635||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2781205C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-861C>A|||||||rs2534635||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2781205C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-861C>A|||||||rs2534635||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2781205C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-861C>A|||||||rs2534635||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2781205C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-861C>A|||||||rs2534635||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2781205C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-861C>A|||||||rs2534635||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2781205C>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|-8|43|20|43;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=85292;gnomADv4_1_AC_joint_XX=33501;gnomADv4_1_AC_joint_XY=51791;gnomADv4_1_AF_grpmax_joint=0.69863;gnomADv4_1_AF_joint=0.565387;gnomADv4_1_AF_joint_XX=0.432829;gnomADv4_1_AF_joint_XY=0.705062;gnomADv4_1_AN_grpmax_joint=292;gnomADv4_1_AN_joint=150856;gnomADv4_1_AN_joint_XX=77400;gnomADv4_1_AN_joint_XY=73456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=24379;gnomADv4_1_nhomalt_joint_XX=8943;gnomADv4_1_nhomalt_joint_XY=15436;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=3.0;numhet_XX=1.0;numhet_XY=2.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2781234 chrX_2781234_T_G T G 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=2.745;CADD_Rawscore=0.249345;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-832T>G|||||||rs5982851||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2781234T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-832T>G|||||||rs5982851||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2781234T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-832T>G|||||||rs5982851||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2781234T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-832T>G|||||||rs5982851||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2781234T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-832T>G|||||||rs5982851||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2781234T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-832T>G|||||||rs5982851||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2781234T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-832T>G|||||||rs5982851||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2781234T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-832T>G|||||||rs5982851||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2781234T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-832T>G|||||||rs5982851||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2781234T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-832T>G|||||||rs5982851||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2781234T>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|1|14|46|14;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42450;gnomADv4_1_AC_joint_XX=28621;gnomADv4_1_AC_joint_XY=13829;gnomADv4_1_AF_grpmax_joint=0.513027;gnomADv4_1_AF_joint=0.281469;gnomADv4_1_AF_joint_XX=0.369761;gnomADv4_1_AF_joint_XY=0.188375;gnomADv4_1_AN_grpmax_joint=40992;gnomADv4_1_AN_joint=150816;gnomADv4_1_AN_joint_XX=77404;gnomADv4_1_AN_joint_XY=73412;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6923;gnomADv4_1_nhomalt_joint_XX=6863;gnomADv4_1_nhomalt_joint_XY=60;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2781309 chrX_2781309_A_T A T 46 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=46;CADD_PHREDscore=5.136;CADD_Rawscore=0.468685;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-757A>T|||||||rs6655036||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2781309A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-757A>T|||||||rs6655036||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2781309A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-757A>T|||||||rs6655036||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2781309A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-757A>T|||||||rs6655036||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2781309A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-757A>T|||||||rs6655036||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2781309A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-757A>T|||||||rs6655036||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2781309A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-757A>T|||||||rs6655036||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2781309A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-757A>T|||||||rs6655036||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2781309A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-757A>T|||||||rs6655036||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2781309A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-757A>T|||||||rs6655036||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2781309A>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|-28|-20|24|4;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28764;gnomADv4_1_AC_joint_XX=19446;gnomADv4_1_AC_joint_XY=9318;gnomADv4_1_AF_grpmax_joint=0.353625;gnomADv4_1_AF_joint=0.190248;gnomADv4_1_AF_joint_XX=0.250541;gnomADv4_1_AF_joint_XY=0.126645;gnomADv4_1_AN_grpmax_joint=5076;gnomADv4_1_AN_joint=151192;gnomADv4_1_AN_joint_XX=77616;gnomADv4_1_AN_joint_XY=73576;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3023;gnomADv4_1_nhomalt_joint_XX=2987;gnomADv4_1_nhomalt_joint_XY=36;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2781319 chrX_2781319_T_C T C 45 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=45;CADD_PHREDscore=6.296;CADD_Rawscore=0.583471;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-747T>C|||||||rs6655037||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2781319T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-747T>C|||||||rs6655037||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2781319T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-747T>C|||||||rs6655037||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2781319T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-747T>C|||||||rs6655037||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2781319T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-747T>C|||||||rs6655037||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2781319T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-747T>C|||||||rs6655037||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2781319T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-747T>C|||||||rs6655037||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2781319T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-747T>C|||||||rs6655037||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2781319T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-747T>C|||||||rs6655037||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2781319T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-747T>C|||||||rs6655037||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2781319T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-30|14|-30|-39;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=28661;gnomADv4_1_AC_joint_XX=19386;gnomADv4_1_AC_joint_XY=9275;gnomADv4_1_AF_grpmax_joint=0.353659;gnomADv4_1_AF_joint=0.189597;gnomADv4_1_AF_joint_XX=0.249768;gnomADv4_1_AF_joint_XY=0.126101;gnomADv4_1_AN_grpmax_joint=5084;gnomADv4_1_AN_joint=151168;gnomADv4_1_AN_joint_XX=77616;gnomADv4_1_AN_joint_XY=73552;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3013;gnomADv4_1_nhomalt_joint_XX=2975;gnomADv4_1_nhomalt_joint_XY=38;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2781409 chrX_2781409_A_C A C 47 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=2;AC_Het_XX=1;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.333333;AF_XX=0.5;AF_XY=0.25;AN=6;AN_XX=2;AN_XY=4;AQ=47;CADD_PHREDscore=2.946;CADD_Rawscore=0.26932;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-657A>C|||||||rs72619367||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2781409A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-657A>C|||||||rs72619367||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2781409A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-657A>C|||||||rs72619367||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2781409A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-657A>C|||||||rs72619367||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2781409A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-657A>C|||||||rs72619367||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2781409A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-657A>C|||||||rs72619367||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2781409A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-657A>C|||||||rs72619367||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2781409A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-657A>C|||||||rs72619367||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2781409A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-657A>C|||||||rs72619367||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2781409A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-657A>C|||||||rs72619367||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2781409A>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-47|9|-34|-5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24255;gnomADv4_1_AC_joint_XX=16945;gnomADv4_1_AC_joint_XY=7310;gnomADv4_1_AF_grpmax_joint=0.371119;gnomADv4_1_AF_joint=0.162761;gnomADv4_1_AF_joint_XX=0.218116;gnomADv4_1_AF_joint_XY=0.102476;gnomADv4_1_AN_grpmax_joint=4896;gnomADv4_1_AN_joint=149022;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=71334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2307;gnomADv4_1_nhomalt_joint_XX=2090;gnomADv4_1_nhomalt_joint_XY=217;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=2.0;numhet_XX=1.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2781435 chrX_2781435_A_T A T 20 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=0;AC_Het_XY=1;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=20;CADD_PHREDscore=1.32;CADD_Rawscore=0.054623;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-631A>T|||||||rs2535439||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2781435A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-631A>T|||||||rs2535439||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2781435A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-631A>T|||||||rs2535439||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2781435A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-631A>T|||||||rs2535439||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2781435A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-631A>T|||||||rs2535439||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2781435A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-631A>T|||||||rs2535439||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2781435A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-631A>T|||||||rs2535439||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2781435A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-631A>T|||||||rs2535439||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2781435A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-631A>T|||||||rs2535439||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2781435A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-631A>T|||||||rs2535439||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2781435A>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|46|-30|-30|39;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21674;gnomADv4_1_AC_joint_XX=148;gnomADv4_1_AC_joint_XY=21526;gnomADv4_1_AF_grpmax_joint=0.299308;gnomADv4_1_AF_joint=0.1718;gnomADv4_1_AF_joint_XX=0.001903;gnomADv4_1_AF_joint_XY=0.444881;gnomADv4_1_AN_grpmax_joint=3468;gnomADv4_1_AN_joint=126158;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=48386;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=77;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=76;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=0.0;numhet_XY=1.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2781439 chrX_2781439_C_G C G 18 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=18;CADD_PHREDscore=0.907;CADD_Rawscore=-0.042986;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-627C>G|||||||rs2857315||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2781439C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-627C>G|||||||rs2857315||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2781439C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-627C>G|||||||rs2857315||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2781439C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-627C>G|||||||rs2857315||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2781439C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-627C>G|||||||rs2857315||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2781439C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-627C>G|||||||rs2857315||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2781439C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-627C>G|||||||rs2857315||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2781439C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-627C>G|||||||rs2857315||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2781439C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-627C>G|||||||rs2857315||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2781439C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-627C>G|||||||rs2857315||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2781439C>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|42|-34|-34|35;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20665;gnomADv4_1_AC_joint_XX=142;gnomADv4_1_AC_joint_XY=20523;gnomADv4_1_AF_grpmax_joint=0.292014;gnomADv4_1_AF_joint=0.166195;gnomADv4_1_AF_joint_XX=0.00182764;gnomADv4_1_AF_joint_XY=0.439973;gnomADv4_1_AN_grpmax_joint=3356;gnomADv4_1_AN_joint=124342;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=46646;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=77;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=76;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2781514 chrX_2781514_C_A C A 54 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.934;CADD_Rawscore=-0.035537;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-552C>A|||||||rs311165||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2781514C>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-552C>A|||||||rs311165||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2781514C>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-552C>A|||||||rs311165||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2781514C>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-552C>A|||||||rs311165||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2781514C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-552C>A|||||||rs311165||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2781514C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-552C>A|||||||rs311165||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2781514C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-552C>A|||||||rs311165||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2781514C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-552C>A|||||||rs311165||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2781514C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-552C>A|||||||rs311165||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2781514C>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-552C>A|||||||rs311165||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2781514C>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|50|-18|-40|17;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57182;gnomADv4_1_AC_joint_XX=40709;gnomADv4_1_AC_joint_XY=16473;gnomADv4_1_AF_grpmax_joint=0.774267;gnomADv4_1_AF_joint=0.516675;gnomADv4_1_AF_joint_XX=0.523588;gnomADv4_1_AF_joint_XY=0.500349;gnomADv4_1_AN_grpmax_joint=30381;gnomADv4_1_AN_joint=110673;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=32923;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11749;gnomADv4_1_nhomalt_joint_XX=11749;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2781635 chrX_2781635_G_A G A 58 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=5.11;CADD_Rawscore=0.466216;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-431G>A|||||||rs60075487||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2781635G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-431G>A|||||||rs60075487||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2781635G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-431G>A|||||||rs60075487||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2781635G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-431G>A|||||||rs60075487||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2781635G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-431G>A|||||||rs60075487||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2781635G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-431G>A|||||||rs60075487||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2781635G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-431G>A|||||||rs60075487||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2781635G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-431G>A|||||||rs60075487||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2781635G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-431G>A|||||||rs60075487||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2781635G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-431G>A|||||||rs60075487||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2781635G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|-31|1|-31|1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22375;gnomADv4_1_AC_joint_XX=15997;gnomADv4_1_AC_joint_XY=6378;gnomADv4_1_AF_grpmax_joint=0.501309;gnomADv4_1_AF_joint=0.202731;gnomADv4_1_AF_joint_XX=0.205829;gnomADv4_1_AF_joint_XY=0.195357;gnomADv4_1_AN_grpmax_joint=3439;gnomADv4_1_AN_joint=110368;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=32648;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1844;gnomADv4_1_nhomalt_joint_XX=1844;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2781857 chrX_2781857_C_CT C CT 50 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADDIndel_PHREDscore=0.988;CADDIndel_Rawscore=-0.020914;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-200dup|||||||rs3214987||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||9|chrX:g.2781866dup|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-200dup|||||||rs3214987||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||9|chrX:g.2781866dup|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-200dup|||||||rs3214987||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||9|chrX:g.2781866dup|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-200dup|||||||rs3214987||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||9|chrX:g.2781866dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-200dup|||||||rs3214987||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||9|chrX:g.2781866dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-200dup|||||||rs3214987||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||9|chrX:g.2781866dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-200dup|||||||rs3214987||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||9|chrX:g.2781866dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-200dup|||||||rs3214987||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||9|chrX:g.2781866dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-200dup|||||||rs3214987||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||9|chrX:g.2781866dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-200dup|||||||rs3214987||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||9|chrX:g.2781866dup|||||||||||||;SpliceAI=CT|XG|0.00|0.00|0.00|0.00|13|19|13|18;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21753;gnomADv4_1_AC_joint_XX=15946;gnomADv4_1_AC_joint_XY=5807;gnomADv4_1_AF_grpmax_joint=0.496197;gnomADv4_1_AF_joint=0.19928;gnomADv4_1_AF_joint_XX=0.206005;gnomADv4_1_AF_joint_XY=0.182886;gnomADv4_1_AN_grpmax_joint=3418;gnomADv4_1_AN_joint=109158;gnomADv4_1_AN_joint_XX=77406;gnomADv4_1_AN_joint_XY=31752;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1849;gnomADv4_1_nhomalt_joint_XX=1849;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2781927 chrX_2781927_A_G A G 48 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=1.079;CADD_Rawscore=0.001949;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-139A>G|||||||rs2306737||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2781927A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-139A>G|||||||rs2306737||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2781927A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-139A>G|||||||rs2306737||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2781927A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-139A>G|||||||rs2306737||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2781927A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-139A>G|||||||rs2306737||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2781927A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-139A>G|||||||rs2306737||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2781927A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-139A>G|||||||rs2306737||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2781927A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-139A>G|||||||rs2306737||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2781927A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-139A>G|||||||rs2306737||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2781927A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-139A>G|||||||rs2306737||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2781927A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|-43|45|44|-44;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=286480;gnomADv4_1_AC_joint_XX=201952;gnomADv4_1_AC_joint_XY=84528;gnomADv4_1_AF_grpmax_joint=0.647585;gnomADv4_1_AF_joint=0.543673;gnomADv4_1_AF_joint_XX=0.539629;gnomADv4_1_AF_joint_XY=0.553585;gnomADv4_1_AN_grpmax_joint=28980;gnomADv4_1_AN_joint=526934;gnomADv4_1_AN_joint_XX=374242;gnomADv4_1_AN_joint_XY=152692;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=55597;gnomADv4_1_nhomalt_joint_XX=55597;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2781986 chrX_2781986_T_C T C 44 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADD_PHREDscore=0.009;CADD_Rawscore=-1.28727;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||3/9|ENST00000381174.10:c.128-80T>C|||||||rs2306736||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2781986T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||1/8|ENST00000419513.7:c.62-80T>C|||||||rs2306736||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2781986T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||1/7|ENST00000509484.3:c.62-80T>C|||||||rs2306736||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2781986T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||3/10|ENST00000644266.2:c.128-80T>C|||||||rs2306736||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2781986T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||3/10|NM_001141919.2:c.128-80T>C|||||||rs2306736||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2781986T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||3/9|NM_001141920.2:c.128-80T>C|||||||rs2306736||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2781986T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||3/9|NM_175569.3:c.128-80T>C|||||||rs2306736||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2781986T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||3/10|XM_005274587.5:c.128-80T>C|||||||rs2306736||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2781986T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||3/7|XM_011545575.4:c.128-80T>C|||||||rs2306736||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2781986T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||2/9|XM_017029787.3:c.86-80T>C|||||||rs2306736||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2781986T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|32|20|-15|-8;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=550473;gnomADv4_1_AC_joint_XX=388142;gnomADv4_1_AC_joint_XY=162331;gnomADv4_1_AF_grpmax_joint=0.650079;gnomADv4_1_AF_joint=0.541294;gnomADv4_1_AF_joint_XX=0.537062;gnomADv4_1_AF_joint_XY=0.551688;gnomADv4_1_AN_grpmax_joint=44250;gnomADv4_1_AN_joint=1016958;gnomADv4_1_AN_joint_XX=722714;gnomADv4_1_AN_joint_XY=294244;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=105935;gnomADv4_1_nhomalt_joint_XX=105935;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2782161 chrX_2782161_A_G A G 58 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=1.414;CADD_Rawscore=0.072696;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.190+33A>G|||||||rs5939320||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2782161A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.124+33A>G|||||||rs5939320||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2782161A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.124+33A>G|||||||rs5939320||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2782161A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.190+33A>G|||||||rs5939320||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2782161A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.190+33A>G|||||||rs5939320||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2782161A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.190+33A>G|||||||rs5939320||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2782161A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.190+33A>G|||||||rs5939320||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2782161A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.190+33A>G|||||||rs5939320||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2782161A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.190+33A>G|||||||rs5939320||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2782161A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.148+33A>G|||||||rs5939320||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2782161A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|1|4|-33|4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=381047;gnomADv4_1_AC_joint_XX=258790;gnomADv4_1_AC_joint_XY=122257;gnomADv4_1_AF_grpmax_joint=0.525715;gnomADv4_1_AF_joint=0.317838;gnomADv4_1_AF_joint_XX=0.319;gnomADv4_1_AF_joint_XY=0.315406;gnomADv4_1_AN_grpmax_joint=33619;gnomADv4_1_AN_joint=1198872;gnomADv4_1_AN_joint_XX=811254;gnomADv4_1_AN_joint_XY=387618;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=42439;gnomADv4_1_nhomalt_joint_XX=42439;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2782261 chrX_2782261_T_A T A 55 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.044;CADD_Rawscore=-0.834595;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.190+133T>A|||||||rs72619369||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2782261T>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.124+133T>A|||||||rs72619369||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2782261T>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.124+133T>A|||||||rs72619369||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2782261T>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.190+133T>A|||||||rs72619369||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2782261T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.190+133T>A|||||||rs72619369||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2782261T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.190+133T>A|||||||rs72619369||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2782261T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.190+133T>A|||||||rs72619369||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2782261T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.190+133T>A|||||||rs72619369||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2782261T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.190+133T>A|||||||rs72619369||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2782261T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.148+133T>A|||||||rs72619369||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2782261T>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|10|22|-9|-36;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=153538;gnomADv4_1_AC_joint_XX=109199;gnomADv4_1_AC_joint_XY=44339;gnomADv4_1_AF_grpmax_joint=0.525166;gnomADv4_1_AF_joint=0.208326;gnomADv4_1_AF_joint_XX=0.201769;gnomADv4_1_AF_joint_XY=0.226449;gnomADv4_1_AN_grpmax_joint=29305;gnomADv4_1_AN_joint=737009;gnomADv4_1_AN_joint_XX=541208;gnomADv4_1_AN_joint_XY=195801;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13860;gnomADv4_1_nhomalt_joint_XX=13860;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2782567 chrX_2782567_C_T C T 45 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADD_PHREDscore=0.794;CADD_Rawscore=-0.076872;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.190+439C>T|||||||rs4892890||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2782567C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.124+439C>T|||||||rs4892890||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2782567C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.124+439C>T|||||||rs4892890||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2782567C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.190+439C>T|||||||rs4892890||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2782567C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.190+439C>T|||||||rs4892890||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2782567C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.190+439C>T|||||||rs4892890||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2782567C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.190+439C>T|||||||rs4892890||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2782567C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.190+439C>T|||||||rs4892890||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2782567C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.190+439C>T|||||||rs4892890||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2782567C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.148+439C>T|||||||rs4892890||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2782567C>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|-31|40|-31|34;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49410;gnomADv4_1_AC_joint_XX=35240;gnomADv4_1_AC_joint_XY=14170;gnomADv4_1_AF_grpmax_joint=0.617956;gnomADv4_1_AF_joint=0.452323;gnomADv4_1_AF_joint_XX=0.453995;gnomADv4_1_AF_joint_XY=0.448219;gnomADv4_1_AN_grpmax_joint=10203;gnomADv4_1_AN_joint=109236;gnomADv4_1_AN_joint_XX=77622;gnomADv4_1_AN_joint_XY=31614;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=8604;gnomADv4_1_nhomalt_joint_XX=8604;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2782572 chrX_2782572_A_G A G 61 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=61;CADD_PHREDscore=3.297;CADD_Rawscore=0.302275;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.190+444A>G|||||||rs4892819||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2782572A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.124+444A>G|||||||rs4892819||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2782572A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.124+444A>G|||||||rs4892819||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2782572A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.190+444A>G|||||||rs4892819||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2782572A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.190+444A>G|||||||rs4892819||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2782572A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.190+444A>G|||||||rs4892819||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2782572A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.190+444A>G|||||||rs4892819||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2782572A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.190+444A>G|||||||rs4892819||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2782572A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.190+444A>G|||||||rs4892819||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2782572A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.148+444A>G|||||||rs4892819||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2782572A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|35|21|-36|1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53906;gnomADv4_1_AC_joint_XX=38409;gnomADv4_1_AC_joint_XY=15497;gnomADv4_1_AF_grpmax_joint=0.61479;gnomADv4_1_AF_joint=0.492625;gnomADv4_1_AF_joint_XX=0.494668;gnomADv4_1_AF_joint_XY=0.487634;gnomADv4_1_AN_grpmax_joint=10223;gnomADv4_1_AN_joint=109426;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=31780;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=9875;gnomADv4_1_nhomalt_joint_XX=9875;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2783032 chrX_2783032_T_C T C 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=5.763;CADD_Rawscore=0.529447;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.190+904T>C|||||||rs1970796||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2783032T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.124+904T>C|||||||rs1970796||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2783032T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.124+904T>C|||||||rs1970796||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2783032T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.190+904T>C|||||||rs1970796||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2783032T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.190+904T>C|||||||rs1970796||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2783032T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.190+904T>C|||||||rs1970796||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2783032T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.190+904T>C|||||||rs1970796||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2783032T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.190+904T>C|||||||rs1970796||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2783032T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.190+904T>C|||||||rs1970796||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2783032T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.148+904T>C|||||||rs1970796||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2783032T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-43|-37|21|-37;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84025;gnomADv4_1_AC_joint_XX=59538;gnomADv4_1_AC_joint_XY=24487;gnomADv4_1_AF_grpmax_joint=0.915888;gnomADv4_1_AF_joint=0.766092;gnomADv4_1_AF_joint_XX=0.765861;gnomADv4_1_AF_joint_XY=0.766656;gnomADv4_1_AN_grpmax_joint=214;gnomADv4_1_AN_joint=109680;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=31940;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=23065;gnomADv4_1_nhomalt_joint_XX=23065;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2783144 chrX_2783144_C_T C T 57 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=57;CADD_PHREDscore=0.327;CADD_Rawscore=-0.299897;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.190+1016C>T|||||||rs1970797||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2783144C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.124+1016C>T|||||||rs1970797||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2783144C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.124+1016C>T|||||||rs1970797||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2783144C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.190+1016C>T|||||||rs1970797||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2783144C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.190+1016C>T|||||||rs1970797||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2783144C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.190+1016C>T|||||||rs1970797||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2783144C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.190+1016C>T|||||||rs1970797||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2783144C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.190+1016C>T|||||||rs1970797||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2783144C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.190+1016C>T|||||||rs1970797||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2783144C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.148+1016C>T|||||||rs1970797||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2783144C>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|17|-31|-8|11;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=94226;gnomADv4_1_AC_joint_XX=66507;gnomADv4_1_AC_joint_XY=27719;gnomADv4_1_AF_grpmax_joint=0.933333;gnomADv4_1_AF_joint=0.855597;gnomADv4_1_AF_joint_XX=0.855285;gnomADv4_1_AF_joint_XY=0.856344;gnomADv4_1_AN_grpmax_joint=2535;gnomADv4_1_AN_joint=110129;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=32369;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=28500;gnomADv4_1_nhomalt_joint_XX=28500;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2785350 chrX_2785350_T_C T C 57 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=57;CADD_PHREDscore=0.969;CADD_Rawscore=-0.025829;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.190+3222T>C|||||||rs1486175||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2785350T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.124+3222T>C|||||||rs1486175||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2785350T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.124+3222T>C|||||||rs1486175||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2785350T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.190+3222T>C|||||||rs1486175||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2785350T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.190+3222T>C|||||||rs1486175||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2785350T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.190+3222T>C|||||||rs1486175||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2785350T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.190+3222T>C|||||||rs1486175||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2785350T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.190+3222T>C|||||||rs1486175||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2785350T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.190+3222T>C|||||||rs1486175||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2785350T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.148+3222T>C|||||||rs1486175||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2785350T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-49|4|42|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71599;gnomADv4_1_AC_joint_XX=50441;gnomADv4_1_AC_joint_XY=21158;gnomADv4_1_AF_grpmax_joint=0.746544;gnomADv4_1_AF_joint=0.646959;gnomADv4_1_AF_joint_XX=0.648742;gnomADv4_1_AF_joint_XY=0.642749;gnomADv4_1_AN_grpmax_joint=217;gnomADv4_1_AN_joint=110670;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=32918;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=16653;gnomADv4_1_nhomalt_joint_XX=16653;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2785459 chrX_2785459_A_AT A AT 51 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADDIndel_PHREDscore=0.565;CADDIndel_Rawscore=-0.162627;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.190+3331_190+3332insT|||||||rs11413215||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl|||||||chrX:g.2785459_2785460insT|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.124+3331_124+3332insT|||||||rs11413215||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2785459_2785460insT|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.124+3331_124+3332insT|||||||rs11413215||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2785459_2785460insT|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.190+3331_190+3332insT|||||||rs11413215||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl|||||||chrX:g.2785459_2785460insT|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.190+3331_190+3332insT|||||||rs11413215||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq|||||||chrX:g.2785459_2785460insT|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.190+3331_190+3332insT|||||||rs11413215||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq|||||||chrX:g.2785459_2785460insT|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.190+3331_190+3332insT|||||||rs11413215||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq|||||||chrX:g.2785459_2785460insT|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.190+3331_190+3332insT|||||||rs11413215||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq|||||||chrX:g.2785459_2785460insT|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.190+3331_190+3332insT|||||||rs11413215||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq|||||||chrX:g.2785459_2785460insT|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.148+3331_148+3332insT|||||||rs11413215||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq|||||||chrX:g.2785459_2785460insT|||||||||||||;SpliceAI=AT|XG|0.00|0.00|0.00|0.00|13|44|-37|-28;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54354;gnomADv4_1_AC_joint_XX=39508;gnomADv4_1_AC_joint_XY=14846;gnomADv4_1_AF_grpmax_joint=0.692683;gnomADv4_1_AF_joint=0.53406;gnomADv4_1_AF_joint_XX=0.526661;gnomADv4_1_AF_joint_XY=0.554804;gnomADv4_1_AN_grpmax_joint=205;gnomADv4_1_AN_joint=101775;gnomADv4_1_AN_joint_XX=75016;gnomADv4_1_AN_joint_XY=26759;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11747;gnomADv4_1_nhomalt_joint_XX=11747;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2785460 chrX_2785460_A_T A T 51 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=2.614;CADD_Rawscore=0.235854;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.190+3332A>T|||||||rs56079844||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2785460A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.124+3332A>T|||||||rs56079844||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2785460A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.124+3332A>T|||||||rs56079844||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2785460A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.190+3332A>T|||||||rs56079844||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2785460A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.190+3332A>T|||||||rs56079844||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2785460A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.190+3332A>T|||||||rs56079844||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2785460A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.190+3332A>T|||||||rs56079844||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2785460A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.190+3332A>T|||||||rs56079844||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2785460A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.190+3332A>T|||||||rs56079844||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2785460A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.148+3332A>T|||||||rs56079844||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2785460A>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|12|43|-38|-29;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54465;gnomADv4_1_AC_joint_XX=39554;gnomADv4_1_AC_joint_XY=14911;gnomADv4_1_AF_grpmax_joint=0.681159;gnomADv4_1_AF_joint=0.502885;gnomADv4_1_AF_joint_XX=0.509795;gnomADv4_1_AF_joint_XY=0.485432;gnomADv4_1_AN_grpmax_joint=207;gnomADv4_1_AN_joint=108305;gnomADv4_1_AN_joint_XX=77588;gnomADv4_1_AN_joint_XY=30717;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11770;gnomADv4_1_nhomalt_joint_XX=11770;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2785503 chrX_2785503_A_G A G 54 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.233;CADD_Rawscore=-0.387417;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.190+3375A>G|||||||rs6420589||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2785503A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.124+3375A>G|||||||rs6420589||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2785503A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.124+3375A>G|||||||rs6420589||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2785503A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.190+3375A>G|||||||rs6420589||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2785503A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.190+3375A>G|||||||rs6420589||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2785503A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.190+3375A>G|||||||rs6420589||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2785503A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.190+3375A>G|||||||rs6420589||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2785503A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.190+3375A>G|||||||rs6420589||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2785503A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.190+3375A>G|||||||rs6420589||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2785503A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.148+3375A>G|||||||rs6420589||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2785503A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|0|24|-1|24;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=89896;gnomADv4_1_AC_joint_XX=63611;gnomADv4_1_AC_joint_XY=26285;gnomADv4_1_AF_grpmax_joint=0.867475;gnomADv4_1_AF_joint=0.815886;gnomADv4_1_AF_joint_XX=0.818148;gnomADv4_1_AF_joint_XY=0.810465;gnomADv4_1_AN_grpmax_joint=30349;gnomADv4_1_AN_joint=110182;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=32432;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=26146;gnomADv4_1_nhomalt_joint_XX=26146;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2785592 chrX_2785592_A_G A G 56 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=0.175;CADD_Rawscore=-0.462549;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.190+3464A>G|||||||rs1419931||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2785592A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.124+3464A>G|||||||rs1419931||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2785592A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.124+3464A>G|||||||rs1419931||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2785592A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.190+3464A>G|||||||rs1419931||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2785592A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.190+3464A>G|||||||rs1419931||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2785592A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.190+3464A>G|||||||rs1419931||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2785592A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.190+3464A>G|||||||rs1419931||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2785592A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.190+3464A>G|||||||rs1419931||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2785592A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.190+3464A>G|||||||rs1419931||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2785592A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.148+3464A>G|||||||rs1419931||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2785592A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|0|5|-1|-41;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70074;gnomADv4_1_AC_joint_XX=49916;gnomADv4_1_AC_joint_XY=20158;gnomADv4_1_AF_grpmax_joint=0.714286;gnomADv4_1_AF_joint=0.639064;gnomADv4_1_AF_joint_XX=0.642519;gnomADv4_1_AF_joint_XY=0.630667;gnomADv4_1_AN_grpmax_joint=217;gnomADv4_1_AN_joint=109651;gnomADv4_1_AN_joint_XX=77688;gnomADv4_1_AN_joint_XY=31963;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=16324;gnomADv4_1_nhomalt_joint_XX=16324;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2786260 chrX_2786260_C_CTTTTTTTTTT;chrX_2786260_C_CTTTTTTTTTTT C CTTTTTTTTTT 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=11;CADDIndel_PHREDscore=0.151;CADDIndel_Rawscore=-0.500916;CSQ=TTTTTTTTTT|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.191-3376_191-3367dup|||||||rs1179667048||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||17|chrX:g.2786268_2786277dup|||||||||||||,TTTTTTTTTT|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.125-3376_125-3367dup|||||||rs1179667048||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||17|chrX:g.2786268_2786277dup|||||||||||||,TTTTTTTTTT|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.125-3376_125-3367dup|||||||rs1179667048||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||17|chrX:g.2786268_2786277dup|||||||||||||,TTTTTTTTTT|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.191-3376_191-3367dup|||||||rs1179667048||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||17|chrX:g.2786268_2786277dup|||||||||||||,TTTTTTTTTT|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.191-3376_191-3367dup|||||||rs1179667048||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||17|chrX:g.2786268_2786277dup|||||||||||||,TTTTTTTTTT|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.191-3376_191-3367dup|||||||rs1179667048||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||17|chrX:g.2786268_2786277dup|||||||||||||,TTTTTTTTTT|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.191-3376_191-3367dup|||||||rs1179667048||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||17|chrX:g.2786268_2786277dup|||||||||||||,TTTTTTTTTT|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.191-3376_191-3367dup|||||||rs1179667048||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||17|chrX:g.2786268_2786277dup|||||||||||||,TTTTTTTTTT|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.191-3376_191-3367dup|||||||rs1179667048||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||17|chrX:g.2786268_2786277dup|||||||||||||,TTTTTTTTTT|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.149-3376_149-3367dup|||||||rs1179667048||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||17|chrX:g.2786268_2786277dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTT;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24974;gnomADv4_1_AC_joint_XX=22260;gnomADv4_1_AC_joint_XY=2714;gnomADv4_1_AF_grpmax_joint=0.56331;gnomADv4_1_AF_joint=0.417416;gnomADv4_1_AF_joint_XX=0.454471;gnomADv4_1_AF_joint_XY=0.250138;gnomADv4_1_AN_grpmax_joint=34702;gnomADv4_1_AN_joint=59830;gnomADv4_1_AN_joint_XX=48980;gnomADv4_1_AN_joint_XY=10850;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=7179;gnomADv4_1_nhomalt_joint_XX=7179;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2786260 chrX_2786260_C_CTTTTTTTTTT;chrX_2786260_C_CTTTTTTTTTTT C CTTTTTTTTTTT 14 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=14;CADDIndel_PHREDscore=0.149;CADDIndel_Rawscore=-0.505214;CSQ=TTTTTTTTTTT|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.191-3377_191-3367dup|||||||rs1179667048||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||17|chrX:g.2786267_2786277dup|||||||||||||,TTTTTTTTTTT|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.125-3377_125-3367dup|||||||rs1179667048||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||17|chrX:g.2786267_2786277dup|||||||||||||,TTTTTTTTTTT|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.125-3377_125-3367dup|||||||rs1179667048||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||17|chrX:g.2786267_2786277dup|||||||||||||,TTTTTTTTTTT|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.191-3377_191-3367dup|||||||rs1179667048||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||17|chrX:g.2786267_2786277dup|||||||||||||,TTTTTTTTTTT|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.191-3377_191-3367dup|||||||rs1179667048||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||17|chrX:g.2786267_2786277dup|||||||||||||,TTTTTTTTTTT|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.191-3377_191-3367dup|||||||rs1179667048||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||17|chrX:g.2786267_2786277dup|||||||||||||,TTTTTTTTTTT|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.191-3377_191-3367dup|||||||rs1179667048||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||17|chrX:g.2786267_2786277dup|||||||||||||,TTTTTTTTTTT|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.191-3377_191-3367dup|||||||rs1179667048||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||17|chrX:g.2786267_2786277dup|||||||||||||,TTTTTTTTTTT|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.191-3377_191-3367dup|||||||rs1179667048||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||17|chrX:g.2786267_2786277dup|||||||||||||,TTTTTTTTTTT|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.149-3377_149-3367dup|||||||rs1179667048||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||17|chrX:g.2786267_2786277dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTT;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1952;gnomADv4_1_AC_joint_XX=1763;gnomADv4_1_AC_joint_XY=189;gnomADv4_1_AF_grpmax_joint=0.168309;gnomADv4_1_AF_joint=0.0322997;gnomADv4_1_AF_joint_XX=0.035586;gnomADv4_1_AF_joint_XY=0.0173522;gnomADv4_1_AN_grpmax_joint=3755;gnomADv4_1_AN_joint=60434;gnomADv4_1_AN_joint_XX=49542;gnomADv4_1_AN_joint_XY=10892;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=405;gnomADv4_1_nhomalt_joint_XX=405;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2786294 chrX_2786294_G_C G C 39 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=39;CADD_PHREDscore=0.13;CADD_Rawscore=-0.540009;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.191-3350G>C|||||||rs6641645||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2786294G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.125-3350G>C|||||||rs6641645||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2786294G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.125-3350G>C|||||||rs6641645||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2786294G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.191-3350G>C|||||||rs6641645||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2786294G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.191-3350G>C|||||||rs6641645||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2786294G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.191-3350G>C|||||||rs6641645||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2786294G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.191-3350G>C|||||||rs6641645||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2786294G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.191-3350G>C|||||||rs6641645||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2786294G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.191-3350G>C|||||||rs6641645||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2786294G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.149-3350G>C|||||||rs6641645||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2786294G>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|11|-13|11|-1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49393;gnomADv4_1_AC_joint_XX=43429;gnomADv4_1_AC_joint_XY=5964;gnomADv4_1_AF_grpmax_joint=0.669391;gnomADv4_1_AF_joint=0.594731;gnomADv4_1_AF_joint_XX=0.630997;gnomADv4_1_AF_joint_XY=0.419262;gnomADv4_1_AN_grpmax_joint=44294;gnomADv4_1_AN_joint=83051;gnomADv4_1_AN_joint_XX=68826;gnomADv4_1_AN_joint_XY=14225;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13910;gnomADv4_1_nhomalt_joint_XX=13910;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2786428 chrX_2786428_T_C T C 54 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=1.476;CADD_Rawscore=0.083811;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.191-3216T>C|||||||rs5939322||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2786428T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.125-3216T>C|||||||rs5939322||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2786428T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.125-3216T>C|||||||rs5939322||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2786428T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.191-3216T>C|||||||rs5939322||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2786428T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.191-3216T>C|||||||rs5939322||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2786428T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.191-3216T>C|||||||rs5939322||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2786428T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.191-3216T>C|||||||rs5939322||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2786428T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.191-3216T>C|||||||rs5939322||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2786428T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.191-3216T>C|||||||rs5939322||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2786428T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.149-3216T>C|||||||rs5939322||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2786428T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|22|50|-18|-1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=67951;gnomADv4_1_AC_joint_XX=50168;gnomADv4_1_AC_joint_XY=17783;gnomADv4_1_AF_grpmax_joint=0.719048;gnomADv4_1_AF_joint=0.639641;gnomADv4_1_AF_joint_XX=0.648517;gnomADv4_1_AF_joint_XY=0.615861;gnomADv4_1_AN_grpmax_joint=210;gnomADv4_1_AN_joint=106233;gnomADv4_1_AN_joint_XX=77358;gnomADv4_1_AN_joint_XY=28875;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=16538;gnomADv4_1_nhomalt_joint_XX=16538;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2786515 chrX_2786515_A_G A G 54 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.626;CADD_Rawscore=-0.136991;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.191-3129A>G|||||||rs6641647||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2786515A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.125-3129A>G|||||||rs6641647||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2786515A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.125-3129A>G|||||||rs6641647||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2786515A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.191-3129A>G|||||||rs6641647||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2786515A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.191-3129A>G|||||||rs6641647||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2786515A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.191-3129A>G|||||||rs6641647||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2786515A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.191-3129A>G|||||||rs6641647||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2786515A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.191-3129A>G|||||||rs6641647||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2786515A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.191-3129A>G|||||||rs6641647||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2786515A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.149-3129A>G|||||||rs6641647||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2786515A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|-11|31|30|-12;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69524;gnomADv4_1_AC_joint_XX=50294;gnomADv4_1_AC_joint_XY=19230;gnomADv4_1_AF_grpmax_joint=0.716279;gnomADv4_1_AF_joint=0.642349;gnomADv4_1_AF_joint_XX=0.648102;gnomADv4_1_AF_joint_XY=0.627775;gnomADv4_1_AN_grpmax_joint=215;gnomADv4_1_AN_joint=108234;gnomADv4_1_AN_joint_XX=77602;gnomADv4_1_AN_joint_XY=30632;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=16561;gnomADv4_1_nhomalt_joint_XX=16561;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2786568 chrX_2786568_T_C T C 54 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=1.609;CADD_Rawscore=0.1065;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.191-3076T>C|||||||rs5939323||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2786568T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.125-3076T>C|||||||rs5939323||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2786568T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.125-3076T>C|||||||rs5939323||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2786568T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.191-3076T>C|||||||rs5939323||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2786568T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.191-3076T>C|||||||rs5939323||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2786568T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.191-3076T>C|||||||rs5939323||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2786568T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.191-3076T>C|||||||rs5939323||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2786568T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.191-3076T>C|||||||rs5939323||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2786568T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.191-3076T>C|||||||rs5939323||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2786568T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.149-3076T>C|||||||rs5939323||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2786568T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-23|17|-23|27;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70407;gnomADv4_1_AC_joint_XX=50393;gnomADv4_1_AC_joint_XY=20014;gnomADv4_1_AF_grpmax_joint=0.717593;gnomADv4_1_AF_joint=0.644534;gnomADv4_1_AF_joint_XX=0.648609;gnomADv4_1_AF_joint_XY=0.634499;gnomADv4_1_AN_grpmax_joint=216;gnomADv4_1_AN_joint=109237;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=31543;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=16613;gnomADv4_1_nhomalt_joint_XX=16613;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2786767 chrX_2786767_T_C T C 54 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=1.185;CADD_Rawscore=0.026424;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.191-2877T>C|||||||rs6642018||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2786767T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.125-2877T>C|||||||rs6642018||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2786767T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.125-2877T>C|||||||rs6642018||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2786767T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.191-2877T>C|||||||rs6642018||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2786767T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.191-2877T>C|||||||rs6642018||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2786767T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.191-2877T>C|||||||rs6642018||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2786767T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.191-2877T>C|||||||rs6642018||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2786767T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.191-2877T>C|||||||rs6642018||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2786767T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.191-2877T>C|||||||rs6642018||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2786767T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.149-2877T>C|||||||rs6642018||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2786767T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|3|24|-17|-36;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70706;gnomADv4_1_AC_joint_XX=50348;gnomADv4_1_AC_joint_XY=20358;gnomADv4_1_AF_grpmax_joint=0.713615;gnomADv4_1_AF_joint=0.645334;gnomADv4_1_AF_joint_XX=0.647879;gnomADv4_1_AF_joint_XY=0.639123;gnomADv4_1_AN_grpmax_joint=213;gnomADv4_1_AN_joint=109565;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=31853;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=16596;gnomADv4_1_nhomalt_joint_XX=16596;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2786948 chrX_2786948_T_C T C 54 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=3.602;CADD_Rawscore=0.32984;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.191-2696T>C|||||||rs6642019||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2786948T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.125-2696T>C|||||||rs6642019||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2786948T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.125-2696T>C|||||||rs6642019||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2786948T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.191-2696T>C|||||||rs6642019||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2786948T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.191-2696T>C|||||||rs6642019||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2786948T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.191-2696T>C|||||||rs6642019||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2786948T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.191-2696T>C|||||||rs6642019||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2786948T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.191-2696T>C|||||||rs6642019||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2786948T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.191-2696T>C|||||||rs6642019||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2786948T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.149-2696T>C|||||||rs6642019||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2786948T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-28|13|-4|41;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=63948;gnomADv4_1_AC_joint_XX=47844;gnomADv4_1_AC_joint_XY=16104;gnomADv4_1_AF_grpmax_joint=0.685568;gnomADv4_1_AF_joint=0.627089;gnomADv4_1_AF_joint_XX=0.638363;gnomADv4_1_AF_joint_XY=0.595827;gnomADv4_1_AN_grpmax_joint=9382;gnomADv4_1_AN_joint=101976;gnomADv4_1_AN_joint_XX=74948;gnomADv4_1_AN_joint_XY=27028;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=15138;gnomADv4_1_nhomalt_joint_XX=15138;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2787423 chrX_2787423_T_A T A 56 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=1.9;CADD_Rawscore=0.150308;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.191-2221T>A|||||||rs59808240||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2787423T>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.125-2221T>A|||||||rs59808240||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2787423T>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.125-2221T>A|||||||rs59808240||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2787423T>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.191-2221T>A|||||||rs59808240||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2787423T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.191-2221T>A|||||||rs59808240||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2787423T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.191-2221T>A|||||||rs59808240||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2787423T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.191-2221T>A|||||||rs59808240||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2787423T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.191-2221T>A|||||||rs59808240||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2787423T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.191-2221T>A|||||||rs59808240||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2787423T>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.149-2221T>A|||||||rs59808240||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2787423T>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|24|10|27|-40;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55820;gnomADv4_1_AC_joint_XX=39832;gnomADv4_1_AC_joint_XY=15988;gnomADv4_1_AF_grpmax_joint=0.686916;gnomADv4_1_AF_joint=0.508689;gnomADv4_1_AF_joint_XX=0.512454;gnomADv4_1_AF_joint_XY=0.499547;gnomADv4_1_AN_grpmax_joint=214;gnomADv4_1_AN_joint=109733;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=32005;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11832;gnomADv4_1_nhomalt_joint_XX=11832;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2787907 chrX_2787907_CA_C CA C 15 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=0.0;AN=3;AN_XX=2;AN_XY=1;AQ=15;CADDIndel_PHREDscore=0.168;CADDIndel_Rawscore=-0.472489;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.191-1718del|||||||rs61601632||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A|||18|chrX:g.2787926del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.125-1718del|||||||rs61601632||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A|||18|chrX:g.2787926del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.125-1718del|||||||rs61601632||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A|||18|chrX:g.2787926del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.191-1718del|||||||rs61601632||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A|||18|chrX:g.2787926del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.191-1718del|||||||rs61601632||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A|||18|chrX:g.2787926del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.191-1718del|||||||rs61601632||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A|||18|chrX:g.2787926del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.191-1718del|||||||rs61601632||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A|||18|chrX:g.2787926del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.191-1718del|||||||rs61601632||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A|||18|chrX:g.2787926del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.191-1718del|||||||rs61601632||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A|||18|chrX:g.2787926del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.149-1718del|||||||rs61601632||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A|||18|chrX:g.2787926del|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|30|21|-9|2;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22255;gnomADv4_1_AC_joint_XX=20450;gnomADv4_1_AC_joint_XY=1805;gnomADv4_1_AF_grpmax_joint=0.696789;gnomADv4_1_AF_joint=0.439483;gnomADv4_1_AF_joint_XX=0.462147;gnomADv4_1_AF_joint_XY=0.282517;gnomADv4_1_AN_grpmax_joint=14917;gnomADv4_1_AN_joint=50639;gnomADv4_1_AN_joint_XX=44250;gnomADv4_1_AN_joint_XY=6389;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4384;gnomADv4_1_nhomalt_joint_XX=4384;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2788855 chrX_2788855_T_TA T TA 51 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADDIndel_PHREDscore=0.458;CADDIndel_Rawscore=-0.215058;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.191-779dup|||||||rs58649691||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||10|chrX:g.2788865dup|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.125-779dup|||||||rs58649691||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||10|chrX:g.2788865dup|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.125-779dup|||||||rs58649691||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||10|chrX:g.2788865dup|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.191-779dup|||||||rs58649691||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||10|chrX:g.2788865dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.191-779dup|||||||rs58649691||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||10|chrX:g.2788865dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.191-779dup|||||||rs58649691||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||10|chrX:g.2788865dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.191-779dup|||||||rs58649691||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||10|chrX:g.2788865dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.191-779dup|||||||rs58649691||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||10|chrX:g.2788865dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.191-779dup|||||||rs58649691||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||10|chrX:g.2788865dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.149-779dup|||||||rs58649691||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||10|chrX:g.2788865dup|||||||||||||;SpliceAI=TA|XG|0.00|0.00|0.00|0.00|32|44|10|32;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=67409;gnomADv4_1_AC_joint_XX=51181;gnomADv4_1_AC_joint_XY=16228;gnomADv4_1_AF_grpmax_joint=0.763039;gnomADv4_1_AF_joint=0.665249;gnomADv4_1_AF_joint_XX=0.672638;gnomADv4_1_AF_joint_XY=0.642973;gnomADv4_1_AN_grpmax_joint=50063;gnomADv4_1_AN_joint=101329;gnomADv4_1_AN_joint_XX=76090;gnomADv4_1_AN_joint_XY=25239;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=17496;gnomADv4_1_nhomalt_joint_XX=17496;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2789019 chrX_2789019_A_G A G 58 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=1.691;CADD_Rawscore=0.119675;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.191-625A>G|||||||rs5939117||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2789019A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.125-625A>G|||||||rs5939117||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2789019A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.125-625A>G|||||||rs5939117||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2789019A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.191-625A>G|||||||rs5939117||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2789019A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.191-625A>G|||||||rs5939117||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2789019A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.191-625A>G|||||||rs5939117||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2789019A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.191-625A>G|||||||rs5939117||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2789019A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.191-625A>G|||||||rs5939117||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2789019A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.191-625A>G|||||||rs5939117||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2789019A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.149-625A>G|||||||rs5939117||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2789019A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|32|-36|-1|40;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57944;gnomADv4_1_AC_joint_XX=41255;gnomADv4_1_AC_joint_XY=16689;gnomADv4_1_AF_grpmax_joint=0.713467;gnomADv4_1_AF_joint=0.526548;gnomADv4_1_AF_joint_XX=0.531157;gnomADv4_1_AF_joint_XY=0.51549;gnomADv4_1_AN_grpmax_joint=52664;gnomADv4_1_AN_joint=110045;gnomADv4_1_AN_joint_XX=77670;gnomADv4_1_AN_joint_XY=32375;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=12907;gnomADv4_1_nhomalt_joint_XX=12907;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2789101 chrX_2789101_T_C T C 58 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=2.603;CADD_Rawscore=0.234714;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.191-543T>C|||||||rs5939324||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2789101T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.125-543T>C|||||||rs5939324||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2789101T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.125-543T>C|||||||rs5939324||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2789101T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.191-543T>C|||||||rs5939324||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2789101T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.191-543T>C|||||||rs5939324||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2789101T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.191-543T>C|||||||rs5939324||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2789101T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.191-543T>C|||||||rs5939324||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2789101T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.191-543T>C|||||||rs5939324||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2789101T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.191-543T>C|||||||rs5939324||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2789101T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.149-543T>C|||||||rs5939324||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2789101T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-15|11|-4|-7;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61368;gnomADv4_1_AC_joint_XX=44060;gnomADv4_1_AC_joint_XY=17308;gnomADv4_1_AF_grpmax_joint=0.736702;gnomADv4_1_AF_joint=0.562705;gnomADv4_1_AF_joint_XX=0.567506;gnomADv4_1_AF_joint_XY=0.550842;gnomADv4_1_AN_grpmax_joint=52469;gnomADv4_1_AN_joint=109059;gnomADv4_1_AN_joint_XX=77638;gnomADv4_1_AN_joint_XY=31421;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14324;gnomADv4_1_nhomalt_joint_XX=14324;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2789459 chrX_2789459_T_TAAGTTTAGGGTACAAAAATAA T TAAGTTTAGGGTACAAAAATAA 38 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=38;CADDIndel_PHREDscore=0.471;CADDIndel_Rawscore=-0.208305;CSQ=AAGTTTAGGGTACAAAAATAA|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||4/9|ENST00000381174.10:c.191-179_191-178insAGGGTACAAAAATAAAAGTTT|||||||rs761638370||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||6|chrX:g.2789465_2789466insAGGGTACAAAAATAAAAGTTT|||||||||||||,AAGTTTAGGGTACAAAAATAA|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||2/8|ENST00000419513.7:c.125-179_125-178insAGGGTACAAAAATAAAAGTTT|||||||rs761638370||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||6|chrX:g.2789465_2789466insAGGGTACAAAAATAAAAGTTT|||||||||||||,AAGTTTAGGGTACAAAAATAA|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||2/7|ENST00000509484.3:c.125-179_125-178insAGGGTACAAAAATAAAAGTTT|||||||rs761638370||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||6|chrX:g.2789465_2789466insAGGGTACAAAAATAAAAGTTT|||||||||||||,AAGTTTAGGGTACAAAAATAA|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||4/10|ENST00000644266.2:c.191-179_191-178insAGGGTACAAAAATAAAAGTTT|||||||rs761638370||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||6|chrX:g.2789465_2789466insAGGGTACAAAAATAAAAGTTT|||||||||||||,AAGTTTAGGGTACAAAAATAA|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||4/10|NM_001141919.2:c.191-179_191-178insAGGGTACAAAAATAAAAGTTT|||||||rs761638370||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||6|chrX:g.2789465_2789466insAGGGTACAAAAATAAAAGTTT|||||||||||||,AAGTTTAGGGTACAAAAATAA|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||4/9|NM_001141920.2:c.191-179_191-178insAGGGTACAAAAATAAAAGTTT|||||||rs761638370||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||6|chrX:g.2789465_2789466insAGGGTACAAAAATAAAAGTTT|||||||||||||,AAGTTTAGGGTACAAAAATAA|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||4/9|NM_175569.3:c.191-179_191-178insAGGGTACAAAAATAAAAGTTT|||||||rs761638370||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||6|chrX:g.2789465_2789466insAGGGTACAAAAATAAAAGTTT|||||||||||||,AAGTTTAGGGTACAAAAATAA|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||4/10|XM_005274587.5:c.191-179_191-178insAGGGTACAAAAATAAAAGTTT|||||||rs761638370||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||6|chrX:g.2789465_2789466insAGGGTACAAAAATAAAAGTTT|||||||||||||,AAGTTTAGGGTACAAAAATAA|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||4/7|XM_011545575.4:c.191-179_191-178insAGGGTACAAAAATAAAAGTTT|||||||rs761638370||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||6|chrX:g.2789465_2789466insAGGGTACAAAAATAAAAGTTT|||||||||||||,AAGTTTAGGGTACAAAAATAA|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||3/9|XM_017029787.3:c.149-179_149-178insAGGGTACAAAAATAAAAGTTT|||||||rs761638370||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||6|chrX:g.2789465_2789466insAGGGTACAAAAATAAAAGTTT|||||||||||||;TYPE=INDEL;VEP_Allele=AAGTTTAGGGTACAAAAATAA,AAGTTTAGGGTACAAAAATAA,AAGTTTAGGGTACAAAAATAA,AAGTTTAGGGTACAAAAATAA,AAGTTTAGGGTACAAAAATAA,AAGTTTAGGGTACAAAAATAA,AAGTTTAGGGTACAAAAATAA,AAGTTTAGGGTACAAAAATAA,AAGTTTAGGGTACAAAAATAA,AAGTTTAGGGTACAAAAATAA;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15500;gnomADv4_1_AC_joint_XX=11081;gnomADv4_1_AC_joint_XY=4419;gnomADv4_1_AF_grpmax_joint=0.335387;gnomADv4_1_AF_joint=0.139435;gnomADv4_1_AF_joint_XX=0.142517;gnomADv4_1_AF_joint_XY=0.132262;gnomADv4_1_AN_grpmax_joint=2597;gnomADv4_1_AN_joint=111163;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=33411;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=855;gnomADv4_1_nhomalt_joint_XX=855;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2789783 chrX_2789783_TTTTAC_T TTTTAC T 46 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=46;CADDIndel_PHREDscore=1.016;CADDIndel_Rawscore=-0.013792;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||5/9|ENST00000381174.10:c.253+82_253+86del|||||||rs201214222||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||TTTAC|TTTAC|||4|chrX:g.2789788_2789792del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||3/8|ENST00000419513.7:c.187+82_187+86del|||||||rs201214222||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||TTTAC|TTTAC|||4|chrX:g.2789788_2789792del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||3/7|ENST00000509484.3:c.187+82_187+86del|||||||rs201214222||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||TTTAC|TTTAC|||4|chrX:g.2789788_2789792del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs201214222|4747|1||HGNC|HGNC:12806|3||||||||Ensembl||TTTAC|TTTAC||||chrX:g.2789788_2789792del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||5/10|ENST00000644266.2:c.253+82_253+86del|||||||rs201214222||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||TTTAC|TTTAC|||4|chrX:g.2789788_2789792del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||5/10|NM_001141919.2:c.253+82_253+86del|||||||rs201214222||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||TTTAC|TTTAC|||4|chrX:g.2789788_2789792del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||5/9|NM_001141920.2:c.256+79_256+83del|||||||rs201214222||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||TTTAC|TTTAC|||4|chrX:g.2789788_2789792del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||5/9|NM_175569.3:c.253+82_253+86del|||||||rs201214222||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||TTTAC|TTTAC|||4|chrX:g.2789788_2789792del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||5/10|XM_005274587.5:c.256+79_256+83del|||||||rs201214222||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||TTTAC|TTTAC|||4|chrX:g.2789788_2789792del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||5/7|XM_011545575.4:c.256+79_256+83del|||||||rs201214222||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||TTTAC|TTTAC|||4|chrX:g.2789788_2789792del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||4/9|XM_017029787.3:c.214+79_214+83del|||||||rs201214222||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||TTTAC|TTTAC|||4|chrX:g.2789788_2789792del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61970;gnomADv4_1_AC_joint_XX=46003;gnomADv4_1_AC_joint_XY=15967;gnomADv4_1_AF_grpmax_joint=0.359814;gnomADv4_1_AF_joint=0.133965;gnomADv4_1_AF_joint_XX=0.126935;gnomADv4_1_AF_joint_XY=0.159401;gnomADv4_1_AN_grpmax_joint=10536;gnomADv4_1_AN_joint=462583;gnomADv4_1_AN_joint_XX=362414;gnomADv4_1_AN_joint_XY=100169;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=3616;gnomADv4_1_nhomalt_joint_XX=3616;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2789937 chrX_2789937_T_C T C 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=1.601;CADD_Rawscore=0.10528;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||5/9|ENST00000381174.10:c.253+231T>C|||||||rs311166||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2789937T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||3/8|ENST00000419513.7:c.187+231T>C|||||||rs311166||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2789937T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||3/7|ENST00000509484.3:c.187+231T>C|||||||rs311166||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2789937T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs311166|4598|1||HGNC|HGNC:12806|3||||||||Ensembl||T|T||||chrX:g.2789937T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||5/10|ENST00000644266.2:c.253+231T>C|||||||rs311166||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2789937T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||5/10|NM_001141919.2:c.253+231T>C|||||||rs311166||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2789937T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||5/9|NM_001141920.2:c.256+228T>C|||||||rs311166||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2789937T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||5/9|NM_175569.3:c.253+231T>C|||||||rs311166||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2789937T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||5/10|XM_005274587.5:c.256+228T>C|||||||rs311166||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2789937T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||5/7|XM_011545575.4:c.256+228T>C|||||||rs311166||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2789937T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||4/9|XM_017029787.3:c.214+228T>C|||||||rs311166||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2789937T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-49|35|42|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=86709;gnomADv4_1_AC_joint_XX=62189;gnomADv4_1_AC_joint_XY=24520;gnomADv4_1_AF_grpmax_joint=0.916667;gnomADv4_1_AF_joint=0.795992;gnomADv4_1_AF_joint_XX=0.800291;gnomADv4_1_AF_joint_XY=0.785293;gnomADv4_1_AN_grpmax_joint=216;gnomADv4_1_AN_joint=108932;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=31224;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=25276;gnomADv4_1_nhomalt_joint_XX=25276;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2790505 chrX_2790505_G_GA G GA 42 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADDIndel_PHREDscore=1.146;CADDIndel_Rawscore=0.017514;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||5/9|ENST00000381174.10:c.253+816dup|||||||rs55649691||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||17|chrX:g.2790522dup|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||3/8|ENST00000419513.7:c.187+816dup|||||||rs55649691||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||17|chrX:g.2790522dup|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||3/7|ENST00000509484.3:c.187+816dup|||||||rs55649691||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||17|chrX:g.2790522dup|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs55649691|4029|1||HGNC|HGNC:12806|3||||||||Ensembl|||||||chrX:g.2790522dup|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||5/10|ENST00000644266.2:c.253+816dup|||||||rs55649691||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||17|chrX:g.2790522dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||5/10|NM_001141919.2:c.253+816dup|||||||rs55649691||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||17|chrX:g.2790522dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||5/9|NM_001141920.2:c.256+813dup|||||||rs55649691||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||17|chrX:g.2790522dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||5/9|NM_175569.3:c.253+816dup|||||||rs55649691||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||17|chrX:g.2790522dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||5/10|XM_005274587.5:c.256+813dup|||||||rs55649691||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||17|chrX:g.2790522dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||5/7|XM_011545575.4:c.256+813dup|||||||rs55649691||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||17|chrX:g.2790522dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||4/9|XM_017029787.3:c.214+813dup|||||||rs55649691||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||17|chrX:g.2790522dup|||||||||||||;SpliceAI=GA|XG|0.00|0.00|0.00|0.00|0|-41|20|-21;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64667;gnomADv4_1_AC_joint_XX=55035;gnomADv4_1_AC_joint_XY=9632;gnomADv4_1_AF_grpmax_joint=0.912752;gnomADv4_1_AF_joint=0.812726;gnomADv4_1_AF_joint_XX=0.816325;gnomADv4_1_AF_joint_XY=0.792757;gnomADv4_1_AN_grpmax_joint=149;gnomADv4_1_AN_joint=79568;gnomADv4_1_AN_joint_XX=67418;gnomADv4_1_AN_joint_XY=12150;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=22499;gnomADv4_1_nhomalt_joint_XX=22499;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2790610 chrX_2790610_G_A G A 48 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=3.479;CADD_Rawscore=0.318848;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||5/9|ENST00000381174.10:c.253+904G>A|||||||rs56231504||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2790610G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||3/8|ENST00000419513.7:c.187+904G>A|||||||rs56231504||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2790610G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||3/7|ENST00000509484.3:c.187+904G>A|||||||rs56231504||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2790610G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs56231504|3925|1||HGNC|HGNC:12806|3||||||||Ensembl||G|G||||chrX:g.2790610G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||5/10|ENST00000644266.2:c.253+904G>A|||||||rs56231504||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2790610G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||5/10|NM_001141919.2:c.253+904G>A|||||||rs56231504||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2790610G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||5/9|NM_001141920.2:c.256+901G>A|||||||rs56231504||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2790610G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||5/9|NM_175569.3:c.253+904G>A|||||||rs56231504||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2790610G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||5/10|XM_005274587.5:c.256+901G>A|||||||rs56231504||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2790610G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||5/7|XM_011545575.4:c.256+901G>A|||||||rs56231504||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2790610G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||4/9|XM_017029787.3:c.214+901G>A|||||||rs56231504||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2790610G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|2|45|-21|9;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10971;gnomADv4_1_AC_joint_XX=7707;gnomADv4_1_AC_joint_XY=3264;gnomADv4_1_AF_grpmax_joint=0.232892;gnomADv4_1_AF_joint=0.0992025;gnomADv4_1_AF_joint_XX=0.0991841;gnomADv4_1_AF_joint_XY=0.0992459;gnomADv4_1_AN_grpmax_joint=3478;gnomADv4_1_AN_joint=110592;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=32888;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=448;gnomADv4_1_nhomalt_joint_XX=448;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2790967 chrX_2790967_ATAAATT_A ATAAATT A 44 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=0.652;CADDIndel_Rawscore=-0.126781;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||5/9|ENST00000381174.10:c.253+1267_253+1272del|||||||rs56765224||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||TAAATT|TAAATT|||5|chrX:g.2790973_2790978del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||3/8|ENST00000419513.7:c.187+1267_187+1272del|||||||rs56765224||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||TAAATT|TAAATT|||5|chrX:g.2790973_2790978del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||3/7|ENST00000509484.3:c.187+1267_187+1272del|||||||rs56765224||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||TAAATT|TAAATT|||5|chrX:g.2790973_2790978del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs56765224|3562|1||HGNC|HGNC:12806|3||||||||Ensembl||TAAATT|TAAATT||||chrX:g.2790973_2790978del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||5/10|ENST00000644266.2:c.253+1267_253+1272del|||||||rs56765224||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||TAAATT|TAAATT|||5|chrX:g.2790973_2790978del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||5/10|NM_001141919.2:c.253+1267_253+1272del|||||||rs56765224||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||TAAATT|TAAATT|||5|chrX:g.2790973_2790978del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||5/9|NM_001141920.2:c.256+1264_256+1269del|||||||rs56765224||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||TAAATT|TAAATT|||5|chrX:g.2790973_2790978del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||5/9|NM_175569.3:c.253+1267_253+1272del|||||||rs56765224||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||TAAATT|TAAATT|||5|chrX:g.2790973_2790978del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||5/10|XM_005274587.5:c.256+1264_256+1269del|||||||rs56765224||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||TAAATT|TAAATT|||5|chrX:g.2790973_2790978del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||5/7|XM_011545575.4:c.256+1264_256+1269del|||||||rs56765224||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||TAAATT|TAAATT|||5|chrX:g.2790973_2790978del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||4/9|XM_017029787.3:c.214+1264_214+1269del|||||||rs56765224||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||TAAATT|TAAATT|||5|chrX:g.2790973_2790978del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=67857;gnomADv4_1_AC_joint_XX=48426;gnomADv4_1_AC_joint_XY=19431;gnomADv4_1_AF_grpmax_joint=0.768525;gnomADv4_1_AF_joint=0.618811;gnomADv4_1_AF_joint_XX=0.625303;gnomADv4_1_AF_joint_XY=0.603204;gnomADv4_1_AN_grpmax_joint=10243;gnomADv4_1_AN_joint=109657;gnomADv4_1_AN_joint_XX=77444;gnomADv4_1_AN_joint_XY=32213;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=15630;gnomADv4_1_nhomalt_joint_XX=15630;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2791052 chrX_2791052_TTTC_T TTTC T 46 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=46;CADDIndel_PHREDscore=0.709;CADDIndel_Rawscore=-0.105725;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||5/9|ENST00000381174.10:c.253+1349_253+1351del|||||||rs200724145||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||TTC|TTC|||2|chrX:g.2791055_2791057del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||3/8|ENST00000419513.7:c.187+1349_187+1351del|||||||rs200724145||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||TTC|TTC|||2|chrX:g.2791055_2791057del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||3/7|ENST00000509484.3:c.187+1349_187+1351del|||||||rs200724145||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||TTC|TTC|||2|chrX:g.2791055_2791057del|||||||||||||,-|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs200724145|3480|1||HGNC|HGNC:12806|3||||||||Ensembl||TTC|TTC||||chrX:g.2791055_2791057del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||5/10|ENST00000644266.2:c.253+1349_253+1351del|||||||rs200724145||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||TTC|TTC|||2|chrX:g.2791055_2791057del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||5/10|NM_001141919.2:c.253+1349_253+1351del|||||||rs200724145||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||TTC|TTC|||2|chrX:g.2791055_2791057del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||5/9|NM_001141920.2:c.256+1346_256+1348del|||||||rs200724145||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||TTC|TTC|||2|chrX:g.2791055_2791057del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||5/9|NM_175569.3:c.253+1349_253+1351del|||||||rs200724145||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||TTC|TTC|||2|chrX:g.2791055_2791057del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||5/10|XM_005274587.5:c.256+1346_256+1348del|||||||rs200724145||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||TTC|TTC|||2|chrX:g.2791055_2791057del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||5/7|XM_011545575.4:c.256+1346_256+1348del|||||||rs200724145||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||TTC|TTC|||2|chrX:g.2791055_2791057del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||4/9|XM_017029787.3:c.214+1346_214+1348del|||||||rs200724145||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||TTC|TTC|||2|chrX:g.2791055_2791057del|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|7|-7|21|17;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4038;gnomADv4_1_AC_joint_XX=2739;gnomADv4_1_AC_joint_XY=1299;gnomADv4_1_AF_grpmax_joint=0.228267;gnomADv4_1_AF_joint=0.0367509;gnomADv4_1_AF_joint_XX=0.0353137;gnomADv4_1_AF_joint_XY=0.0402005;gnomADv4_1_AN_grpmax_joint=3474;gnomADv4_1_AN_joint=109875;gnomADv4_1_AN_joint_XX=77562;gnomADv4_1_AN_joint_XY=32313;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=106;gnomADv4_1_nhomalt_joint_XX=106;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2792465 chrX_2792465_G_C G C 52 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=1.942;CADD_Rawscore=0.156174;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||5/9|ENST00000381174.10:c.254-2070G>C|||||||rs311167||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2792465G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||3/8|ENST00000419513.7:c.188-2070G>C|||||||rs311167||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2792465G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||3/7|ENST00000509484.3:c.188-2070G>C|||||||rs311167||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2792465G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs311167|2070|1||HGNC|HGNC:12806|3||||||||Ensembl||G|G||||chrX:g.2792465G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||5/10|ENST00000644266.2:c.254-2070G>C|||||||rs311167||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2792465G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||5/10|NM_001141919.2:c.254-2070G>C|||||||rs311167||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2792465G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||5/9|NM_001141920.2:c.257-2070G>C|||||||rs311167||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2792465G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||5/9|NM_175569.3:c.254-2070G>C|||||||rs311167||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2792465G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||5/10|XM_005274587.5:c.257-2070G>C|||||||rs311167||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2792465G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||5/7|XM_011545575.4:c.257-2070G>C|||||||rs311167||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2792465G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||4/9|XM_017029787.3:c.215-2070G>C|||||||rs311167||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2792465G>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|38|21|31|1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69109;gnomADv4_1_AC_joint_XX=50066;gnomADv4_1_AC_joint_XY=19043;gnomADv4_1_AF_grpmax_joint=0.775302;gnomADv4_1_AF_joint=0.638969;gnomADv4_1_AF_joint_XX=0.645047;gnomADv4_1_AF_joint_XY=0.623522;gnomADv4_1_AN_grpmax_joint=10009;gnomADv4_1_AN_joint=108157;gnomADv4_1_AN_joint_XX=77616;gnomADv4_1_AN_joint_XY=30541;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=16373;gnomADv4_1_nhomalt_joint_XX=16373;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2792545 chrX_2792545_T_TTGTG T TTGTG 45 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADDIndel_PHREDscore=0.679;CADDIndel_Rawscore=-0.116631;CSQ=TGTG|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||5/9|ENST00000381174.10:c.254-1968_254-1965dup|||||||rs146747084||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||25|chrX:g.2792567_2792570dup|||||||||||||,TGTG|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||3/8|ENST00000419513.7:c.188-1968_188-1965dup|||||||rs146747084||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||25|chrX:g.2792567_2792570dup|||||||||||||,TGTG|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||3/7|ENST00000509484.3:c.188-1968_188-1965dup|||||||rs146747084||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||25|chrX:g.2792567_2792570dup|||||||||||||,TGTG|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs146747084|1989|1||HGNC|HGNC:12806|3||||||||Ensembl|||||||chrX:g.2792567_2792570dup|||||||||||||,TGTG|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||5/10|ENST00000644266.2:c.254-1968_254-1965dup|||||||rs146747084||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||25|chrX:g.2792567_2792570dup|||||||||||||,TGTG|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||5/10|NM_001141919.2:c.254-1968_254-1965dup|||||||rs146747084||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||25|chrX:g.2792567_2792570dup|||||||||||||,TGTG|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||5/9|NM_001141920.2:c.257-1968_257-1965dup|||||||rs146747084||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||25|chrX:g.2792567_2792570dup|||||||||||||,TGTG|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||5/9|NM_175569.3:c.254-1968_254-1965dup|||||||rs146747084||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||25|chrX:g.2792567_2792570dup|||||||||||||,TGTG|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||5/10|XM_005274587.5:c.257-1968_257-1965dup|||||||rs146747084||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||25|chrX:g.2792567_2792570dup|||||||||||||,TGTG|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||5/7|XM_011545575.4:c.257-1968_257-1965dup|||||||rs146747084||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||25|chrX:g.2792567_2792570dup|||||||||||||,TGTG|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||4/9|XM_017029787.3:c.215-1968_215-1965dup|||||||rs146747084||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||25|chrX:g.2792567_2792570dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGTG,TGTG,TGTG,TGTG,TGTG,TGTG,TGTG,TGTG,TGTG,TGTG,TGTG;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56216;gnomADv4_1_AC_joint_XX=43918;gnomADv4_1_AC_joint_XY=12298;gnomADv4_1_AF_grpmax_joint=0.713262;gnomADv4_1_AF_joint=0.565884;gnomADv4_1_AF_joint_XX=0.580634;gnomADv4_1_AF_joint_XY=0.518815;gnomADv4_1_AN_grpmax_joint=8656;gnomADv4_1_AN_joint=99342;gnomADv4_1_AN_joint_XX=75638;gnomADv4_1_AN_joint_XY=23704;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=13027;gnomADv4_1_nhomalt_joint_XX=13027;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2792799 chrX_2792799_C_T C T 56 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=1.047;CADD_Rawscore=-0.005993;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||5/9|ENST00000381174.10:c.254-1736C>T|||||||rs311168||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2792799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||3/8|ENST00000419513.7:c.188-1736C>T|||||||rs311168||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2792799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||3/7|ENST00000509484.3:c.188-1736C>T|||||||rs311168||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2792799C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs311168|1736|1||HGNC|HGNC:12806|3||||||||Ensembl||C|C||||chrX:g.2792799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||5/10|ENST00000644266.2:c.254-1736C>T|||||||rs311168||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2792799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||5/10|NM_001141919.2:c.254-1736C>T|||||||rs311168||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2792799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||5/9|NM_001141920.2:c.257-1736C>T|||||||rs311168||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2792799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||5/9|NM_175569.3:c.254-1736C>T|||||||rs311168||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2792799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||5/10|XM_005274587.5:c.257-1736C>T|||||||rs311168||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2792799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||5/7|XM_011545575.4:c.257-1736C>T|||||||rs311168||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2792799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||4/9|XM_017029787.3:c.215-1736C>T|||||||rs311168||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2792799C>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|-12|-50|-12|8;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69222;gnomADv4_1_AC_joint_XX=49334;gnomADv4_1_AC_joint_XY=19888;gnomADv4_1_AF_grpmax_joint=0.768134;gnomADv4_1_AF_joint=0.630949;gnomADv4_1_AF_joint_XX=0.634848;gnomADv4_1_AF_joint_XY=0.621481;gnomADv4_1_AN_grpmax_joint=10174;gnomADv4_1_AN_joint=109711;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=32001;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=15921;gnomADv4_1_nhomalt_joint_XX=15921;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2792954 chrX_2792954_C_T C T 55 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=3.492;CADD_Rawscore=0.319968;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||5/9|ENST00000381174.10:c.254-1581C>T|||||||rs311169||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2792954C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||3/8|ENST00000419513.7:c.188-1581C>T|||||||rs311169||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2792954C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||3/7|ENST00000509484.3:c.188-1581C>T|||||||rs311169||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2792954C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs311169|1581|1||HGNC|HGNC:12806|3||||||||Ensembl||C|C||||chrX:g.2792954C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||5/10|ENST00000644266.2:c.254-1581C>T|||||||rs311169||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2792954C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||5/10|NM_001141919.2:c.254-1581C>T|||||||rs311169||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2792954C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||5/9|NM_001141920.2:c.257-1581C>T|||||||rs311169||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2792954C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||5/9|NM_175569.3:c.254-1581C>T|||||||rs311169||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2792954C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||5/10|XM_005274587.5:c.257-1581C>T|||||||rs311169||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2792954C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||5/7|XM_011545575.4:c.257-1581C>T|||||||rs311169||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2792954C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||4/9|XM_017029787.3:c.215-1581C>T|||||||rs311169||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2792954C>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|5|-15|5|-14;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68631;gnomADv4_1_AC_joint_XX=49493;gnomADv4_1_AC_joint_XY=19138;gnomADv4_1_AF_grpmax_joint=0.76965;gnomADv4_1_AF_joint=0.63287;gnomADv4_1_AF_joint_XX=0.63778;gnomADv4_1_AF_joint_XY=0.620517;gnomADv4_1_AN_grpmax_joint=10089;gnomADv4_1_AN_joint=108444;gnomADv4_1_AN_joint_XX=77602;gnomADv4_1_AN_joint_XY=30842;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=16043;gnomADv4_1_nhomalt_joint_XX=16043;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2793388 chrX_2793388_G_A G A 54 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.294;CADD_Rawscore=-0.326948;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||5/9|ENST00000381174.10:c.254-1147G>A|||||||rs311170||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2793388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||3/8|ENST00000419513.7:c.188-1147G>A|||||||rs311170||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2793388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||3/7|ENST00000509484.3:c.188-1147G>A|||||||rs311170||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2793388G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs311170|1147|1||HGNC|HGNC:12806|3||||||||Ensembl||G|G||||chrX:g.2793388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||5/10|ENST00000644266.2:c.254-1147G>A|||||||rs311170||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2793388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||5/10|NM_001141919.2:c.254-1147G>A|||||||rs311170||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2793388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||5/9|NM_001141920.2:c.257-1147G>A|||||||rs311170||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2793388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||5/9|NM_175569.3:c.254-1147G>A|||||||rs311170||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2793388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||5/10|XM_005274587.5:c.257-1147G>A|||||||rs311170||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2793388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||5/7|XM_011545575.4:c.257-1147G>A|||||||rs311170||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2793388G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||4/9|XM_017029787.3:c.215-1147G>A|||||||rs311170||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2793388G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|14|-31|23|-16;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69783;gnomADv4_1_AC_joint_XX=49465;gnomADv4_1_AC_joint_XY=20318;gnomADv4_1_AF_grpmax_joint=0.770075;gnomADv4_1_AF_joint=0.632585;gnomADv4_1_AF_joint_XX=0.636402;gnomADv4_1_AF_joint_XY=0.623481;gnomADv4_1_AN_grpmax_joint=10299;gnomADv4_1_AN_joint=110314;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=32588;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=16005;gnomADv4_1_nhomalt_joint_XX=16005;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2793681 chrX_2793681_C_T C T 52 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=0.305;CADD_Rawscore=-0.318;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||5/9|ENST00000381174.10:c.254-854C>T|||||||rs4892892||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2793681C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||3/8|ENST00000419513.7:c.188-854C>T|||||||rs4892892||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2793681C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||3/7|ENST00000509484.3:c.188-854C>T|||||||rs4892892||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2793681C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs4892892|854|1||HGNC|HGNC:12806|3||||||||Ensembl||C|C||||chrX:g.2793681C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||5/10|ENST00000644266.2:c.254-854C>T|||||||rs4892892||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2793681C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||5/10|NM_001141919.2:c.254-854C>T|||||||rs4892892||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2793681C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||5/9|NM_001141920.2:c.257-854C>T|||||||rs4892892||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2793681C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||5/9|NM_175569.3:c.254-854C>T|||||||rs4892892||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2793681C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||5/10|XM_005274587.5:c.257-854C>T|||||||rs4892892||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2793681C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||5/7|XM_011545575.4:c.257-854C>T|||||||rs4892892||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2793681C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||4/9|XM_017029787.3:c.215-854C>T|||||||rs4892892||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2793681C>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|36|0|-5|-9;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56778;gnomADv4_1_AC_joint_XX=40279;gnomADv4_1_AC_joint_XY=16499;gnomADv4_1_AF_grpmax_joint=0.716248;gnomADv4_1_AF_joint=0.516347;gnomADv4_1_AF_joint_XX=0.518485;gnomADv4_1_AF_joint_XY=0.511201;gnomADv4_1_AN_grpmax_joint=10192;gnomADv4_1_AN_joint=109961;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=32275;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=12422;gnomADv4_1_nhomalt_joint_XX=12422;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2794242 chrX_2794242_C_T C T 57 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=57;CADD_PHREDscore=1.6;CADD_Rawscore=0.105087;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||5/9|ENST00000381174.10:c.254-293C>T|||||||rs2291380||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2794242C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||3/8|ENST00000419513.7:c.188-293C>T|||||||rs2291380||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2794242C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||3/7|ENST00000509484.3:c.188-293C>T|||||||rs2291380||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2794242C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs2291380|293|1||HGNC|HGNC:12806|3||||||||Ensembl||C|C||||chrX:g.2794242C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||5/10|ENST00000644266.2:c.254-293C>T|||||||rs2291380||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2794242C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||5/10|NM_001141919.2:c.254-293C>T|||||||rs2291380||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2794242C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||5/9|NM_001141920.2:c.257-293C>T|||||||rs2291380||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2794242C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||5/9|NM_175569.3:c.254-293C>T|||||||rs2291380||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2794242C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||5/10|XM_005274587.5:c.257-293C>T|||||||rs2291380||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2794242C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||5/7|XM_011545575.4:c.257-293C>T|||||||rs2291380||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2794242C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||4/9|XM_017029787.3:c.215-293C>T|||||||rs2291380||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2794242C>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|11|43|-2|16;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57782;gnomADv4_1_AC_joint_XX=41032;gnomADv4_1_AC_joint_XY=16750;gnomADv4_1_AF_grpmax_joint=0.722845;gnomADv4_1_AF_joint=0.524076;gnomADv4_1_AF_joint_XX=0.528042;gnomADv4_1_AF_joint_XY=0.514609;gnomADv4_1_AN_grpmax_joint=10348;gnomADv4_1_AN_joint=110255;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=32549;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=12523;gnomADv4_1_nhomalt_joint_XX=12523;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2794971 chrX_2794971_T_C T C 51 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=0.345;CADD_Rawscore=-0.286367;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||6/9|ENST00000381174.10:c.322+368T>C|||||||rs311174||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2794971T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||4/8|ENST00000419513.7:c.256+368T>C|||||||rs311174||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2794971T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||4/7|ENST00000509484.3:c.256+368T>C|||||||rs311174||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2794971T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||1/2|ENST00000519244.1:n.69+368T>C|||||||rs311174||1||HGNC|HGNC:12806|3||||||||Ensembl||T|T||||chrX:g.2794971T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||6/10|ENST00000644266.2:c.322+368T>C|||||||rs311174||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2794971T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||6/10|NM_001141919.2:c.322+368T>C|||||||rs311174||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2794971T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||6/9|NM_001141920.2:c.325+368T>C|||||||rs311174||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2794971T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||6/9|NM_175569.3:c.322+368T>C|||||||rs311174||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2794971T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||6/10|XM_005274587.5:c.325+368T>C|||||||rs311174||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2794971T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||6/7|XM_011545575.4:c.325+368T>C|||||||rs311174||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2794971T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||5/9|XM_017029787.3:c.283+368T>C|||||||rs311174||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2794971T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|3|-6|-10|-6;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70544;gnomADv4_1_AC_joint_XX=50160;gnomADv4_1_AC_joint_XY=20384;gnomADv4_1_AF_grpmax_joint=0.773574;gnomADv4_1_AF_joint=0.640628;gnomADv4_1_AF_joint_XX=0.64551;gnomADv4_1_AF_joint_XY=0.628922;gnomADv4_1_AN_grpmax_joint=10255;gnomADv4_1_AN_joint=110117;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=32411;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=16447;gnomADv4_1_nhomalt_joint_XX=16447;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2795028 chrX_2795028_G_A G A 53 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=0.02;CADD_Rawscore=-1.05309;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||6/9|ENST00000381174.10:c.322+425G>A|||||||rs1639329||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2795028G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||4/8|ENST00000419513.7:c.256+425G>A|||||||rs1639329||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2795028G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||4/7|ENST00000509484.3:c.256+425G>A|||||||rs1639329||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2795028G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||1/2|ENST00000519244.1:n.69+425G>A|||||||rs1639329||1||HGNC|HGNC:12806|3||||||||Ensembl||G|G||||chrX:g.2795028G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||6/10|ENST00000644266.2:c.322+425G>A|||||||rs1639329||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2795028G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||6/10|NM_001141919.2:c.322+425G>A|||||||rs1639329||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2795028G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||6/9|NM_001141920.2:c.325+425G>A|||||||rs1639329||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2795028G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||6/9|NM_175569.3:c.322+425G>A|||||||rs1639329||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2795028G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||6/10|XM_005274587.5:c.325+425G>A|||||||rs1639329||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2795028G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||6/7|XM_011545575.4:c.325+425G>A|||||||rs1639329||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2795028G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||5/9|XM_017029787.3:c.283+425G>A|||||||rs1639329||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2795028G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|16|44|15|11;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69644;gnomADv4_1_AC_joint_XX=49933;gnomADv4_1_AC_joint_XY=19711;gnomADv4_1_AF_grpmax_joint=0.773515;gnomADv4_1_AF_joint=0.640628;gnomADv4_1_AF_joint_XX=0.644646;gnomADv4_1_AF_joint_XY=0.630671;gnomADv4_1_AN_grpmax_joint=10036;gnomADv4_1_AN_joint=108712;gnomADv4_1_AN_joint_XX=77458;gnomADv4_1_AN_joint_XY=31254;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=16340;gnomADv4_1_nhomalt_joint_XX=16340;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2795032 chrX_2795032_C_T C T 48 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=0.375;CADD_Rawscore=-0.265116;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||6/9|ENST00000381174.10:c.322+429C>T|||||||rs1639330||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2795032C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||4/8|ENST00000419513.7:c.256+429C>T|||||||rs1639330||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2795032C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||4/7|ENST00000509484.3:c.256+429C>T|||||||rs1639330||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2795032C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||1/2|ENST00000519244.1:n.69+429C>T|||||||rs1639330||1||HGNC|HGNC:12806|3||||||||Ensembl||C|C||||chrX:g.2795032C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||6/10|ENST00000644266.2:c.322+429C>T|||||||rs1639330||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2795032C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||6/10|NM_001141919.2:c.322+429C>T|||||||rs1639330||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2795032C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||6/9|NM_001141920.2:c.325+429C>T|||||||rs1639330||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2795032C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||6/9|NM_175569.3:c.322+429C>T|||||||rs1639330||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2795032C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||6/10|XM_005274587.5:c.325+429C>T|||||||rs1639330||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2795032C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||6/7|XM_011545575.4:c.325+429C>T|||||||rs1639330||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2795032C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||5/9|XM_017029787.3:c.283+429C>T|||||||rs1639330||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2795032C>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|12|11|-37|7;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70803;gnomADv4_1_AC_joint_XX=50772;gnomADv4_1_AC_joint_XY=20031;gnomADv4_1_AF_grpmax_joint=0.778753;gnomADv4_1_AF_joint=0.651733;gnomADv4_1_AF_joint_XX=0.655732;gnomADv4_1_AF_joint_XY=0.641814;gnomADv4_1_AN_grpmax_joint=10025;gnomADv4_1_AN_joint=108638;gnomADv4_1_AN_joint_XX=77428;gnomADv4_1_AN_joint_XY=31210;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=16826;gnomADv4_1_nhomalt_joint_XX=16826;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2795048 chrX_2795048_A_G A G 49 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=1.038;CADD_Rawscore=-0.008266;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||6/9|ENST00000381174.10:c.322+445A>G|||||||rs311175||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2795048A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||4/8|ENST00000419513.7:c.256+445A>G|||||||rs311175||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2795048A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||4/7|ENST00000509484.3:c.256+445A>G|||||||rs311175||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2795048A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||1/2|ENST00000519244.1:n.69+445A>G|||||||rs311175||1||HGNC|HGNC:12806|3||||||||Ensembl||A|A||||chrX:g.2795048A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||6/10|ENST00000644266.2:c.322+445A>G|||||||rs311175||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2795048A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||6/10|NM_001141919.2:c.322+445A>G|||||||rs311175||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2795048A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||6/9|NM_001141920.2:c.325+445A>G|||||||rs311175||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2795048A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||6/9|NM_175569.3:c.322+445A>G|||||||rs311175||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2795048A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||6/10|XM_005274587.5:c.325+445A>G|||||||rs311175||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2795048A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||6/7|XM_011545575.4:c.325+445A>G|||||||rs311175||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2795048A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||5/9|XM_017029787.3:c.283+445A>G|||||||rs311175||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2795048A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|-4|46|-5|-9;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69349;gnomADv4_1_AC_joint_XX=49843;gnomADv4_1_AC_joint_XY=19506;gnomADv4_1_AF_grpmax_joint=0.773159;gnomADv4_1_AF_joint=0.639474;gnomADv4_1_AF_joint_XX=0.644616;gnomADv4_1_AF_joint_XY=0.626699;gnomADv4_1_AN_grpmax_joint=10007;gnomADv4_1_AN_joint=108447;gnomADv4_1_AN_joint_XX=77322;gnomADv4_1_AN_joint_XY=31125;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=16314;gnomADv4_1_nhomalt_joint_XX=16314;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2795170 chrX_2795170_G_T G T 58 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=1.309;CADD_Rawscore=0.052297;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||6/9|ENST00000381174.10:c.322+567G>T|||||||rs7061550||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2795170G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||4/8|ENST00000419513.7:c.256+567G>T|||||||rs7061550||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2795170G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||4/7|ENST00000509484.3:c.256+567G>T|||||||rs7061550||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2795170G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||1/2|ENST00000519244.1:n.69+567G>T|||||||rs7061550||1||HGNC|HGNC:12806|3||||||||Ensembl||G|G||||chrX:g.2795170G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||6/10|ENST00000644266.2:c.322+567G>T|||||||rs7061550||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2795170G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||6/10|NM_001141919.2:c.322+567G>T|||||||rs7061550||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2795170G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||6/9|NM_001141920.2:c.325+567G>T|||||||rs7061550||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2795170G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||6/9|NM_175569.3:c.322+567G>T|||||||rs7061550||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2795170G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||6/10|XM_005274587.5:c.325+567G>T|||||||rs7061550||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2795170G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||6/7|XM_011545575.4:c.325+567G>T|||||||rs7061550||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2795170G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||5/9|XM_017029787.3:c.283+567G>T|||||||rs7061550||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2795170G>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|13|0|-27|-1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57970;gnomADv4_1_AC_joint_XX=42029;gnomADv4_1_AC_joint_XY=15941;gnomADv4_1_AF_grpmax_joint=0.729523;gnomADv4_1_AF_joint=0.549906;gnomADv4_1_AF_joint_XX=0.550983;gnomADv4_1_AF_joint_XY=0.547086;gnomADv4_1_AN_grpmax_joint=9657;gnomADv4_1_AN_joint=105418;gnomADv4_1_AN_joint_XX=76280;gnomADv4_1_AN_joint_XY=29138;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=13010;gnomADv4_1_nhomalt_joint_XX=13010;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2795240 chrX_2795240_G_GTATT G GTATT 48 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADDIndel_PHREDscore=1.833;CADDIndel_Rawscore=0.140854;CSQ=TATT|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||6/9|ENST00000381174.10:c.322+640_322+641insTTAT|||||||rs10690306||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||3|chrX:g.2795243_2795244insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||4/8|ENST00000419513.7:c.256+640_256+641insTTAT|||||||rs10690306||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||3|chrX:g.2795243_2795244insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||4/7|ENST00000509484.3:c.256+640_256+641insTTAT|||||||rs10690306||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||3|chrX:g.2795243_2795244insTTAT|||||||||||||,TATT|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||1/2|ENST00000519244.1:n.69+640_69+641insTTAT|||||||rs10690306||1||HGNC|HGNC:12806|3||||||||Ensembl||||||3|chrX:g.2795243_2795244insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||6/10|ENST00000644266.2:c.322+640_322+641insTTAT|||||||rs10690306||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||3|chrX:g.2795243_2795244insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||6/10|NM_001141919.2:c.322+640_322+641insTTAT|||||||rs10690306||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||3|chrX:g.2795243_2795244insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||6/9|NM_001141920.2:c.325+640_325+641insTTAT|||||||rs10690306||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||3|chrX:g.2795243_2795244insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||6/9|NM_175569.3:c.322+640_322+641insTTAT|||||||rs10690306||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||3|chrX:g.2795243_2795244insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||6/10|XM_005274587.5:c.325+640_325+641insTTAT|||||||rs10690306||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||3|chrX:g.2795243_2795244insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||6/7|XM_011545575.4:c.325+640_325+641insTTAT|||||||rs10690306||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||3|chrX:g.2795243_2795244insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||5/9|XM_017029787.3:c.283+640_283+641insTTAT|||||||rs10690306||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||3|chrX:g.2795243_2795244insTTAT|||||||||||||;TYPE=INDEL;VEP_Allele=TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71312;gnomADv4_1_AC_joint_XX=52010;gnomADv4_1_AC_joint_XY=19302;gnomADv4_1_AF_grpmax_joint=0.789023;gnomADv4_1_AF_joint=0.683582;gnomADv4_1_AF_joint_XX=0.687872;gnomADv4_1_AF_joint_XY=0.672286;gnomADv4_1_AN_grpmax_joint=9456;gnomADv4_1_AN_joint=104321;gnomADv4_1_AN_joint_XX=75610;gnomADv4_1_AN_joint_XY=28711;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=18035;gnomADv4_1_nhomalt_joint_XX=18035;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2795657 chrX_2795657_G_T G T 58 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=0.284;CADD_Rawscore=-0.336132;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||6/9|ENST00000381174.10:c.322+1054G>T|||||||rs311177||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2795657G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||4/8|ENST00000419513.7:c.256+1054G>T|||||||rs311177||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2795657G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||4/7|ENST00000509484.3:c.256+1054G>T|||||||rs311177||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2795657G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||1/2|ENST00000519244.1:n.69+1054G>T|||||||rs311177||1||HGNC|HGNC:12806|3||||||||Ensembl||G|G||||chrX:g.2795657G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||6/10|ENST00000644266.2:c.322+1054G>T|||||||rs311177||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2795657G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||6/10|NM_001141919.2:c.322+1054G>T|||||||rs311177||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2795657G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||6/9|NM_001141920.2:c.325+1054G>T|||||||rs311177||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2795657G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||6/9|NM_175569.3:c.322+1054G>T|||||||rs311177||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2795657G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||6/10|XM_005274587.5:c.325+1054G>T|||||||rs311177||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2795657G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||6/7|XM_011545575.4:c.325+1054G>T|||||||rs311177||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2795657G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||5/9|XM_017029787.3:c.283+1054G>T|||||||rs311177||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2795657G>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|12|23|17|23;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73168;gnomADv4_1_AC_joint_XX=52803;gnomADv4_1_AC_joint_XY=20365;gnomADv4_1_AF_grpmax_joint=0.790797;gnomADv4_1_AF_joint=0.678292;gnomADv4_1_AF_joint_XX=0.684438;gnomADv4_1_AF_joint_XY=0.662858;gnomADv4_1_AN_grpmax_joint=9866;gnomADv4_1_AN_joint=107871;gnomADv4_1_AN_joint_XX=77148;gnomADv4_1_AN_joint_XY=30723;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=18231;gnomADv4_1_nhomalt_joint_XX=18231;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2795722 chrX_2795722_A_G A G 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=0.797;CADD_Rawscore=-0.075956;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||6/9|ENST00000381174.10:c.322+1119A>G|||||||rs311179||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2795722A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||4/8|ENST00000419513.7:c.256+1119A>G|||||||rs311179||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2795722A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||4/7|ENST00000509484.3:c.256+1119A>G|||||||rs311179||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2795722A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||1/2|ENST00000519244.1:n.69+1119A>G|||||||rs311179||1||HGNC|HGNC:12806|3||||||||Ensembl||A|A||||chrX:g.2795722A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||6/10|ENST00000644266.2:c.322+1119A>G|||||||rs311179||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2795722A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||6/10|NM_001141919.2:c.322+1119A>G|||||||rs311179||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2795722A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||6/9|NM_001141920.2:c.325+1119A>G|||||||rs311179||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2795722A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||6/9|NM_175569.3:c.322+1119A>G|||||||rs311179||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2795722A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||6/10|XM_005274587.5:c.325+1119A>G|||||||rs311179||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2795722A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||6/7|XM_011545575.4:c.325+1119A>G|||||||rs311179||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2795722A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||5/9|XM_017029787.3:c.283+1119A>G|||||||rs311179||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2795722A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|-42|0|-42|-47;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73930;gnomADv4_1_AC_joint_XX=52734;gnomADv4_1_AC_joint_XY=21196;gnomADv4_1_AF_grpmax_joint=0.791716;gnomADv4_1_AF_joint=0.677759;gnomADv4_1_AF_joint_XX=0.682464;gnomADv4_1_AF_joint_XY=0.666331;gnomADv4_1_AN_grpmax_joint=10092;gnomADv4_1_AN_joint=109080;gnomADv4_1_AN_joint_XX=77270;gnomADv4_1_AN_joint_XY=31810;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=18149;gnomADv4_1_nhomalt_joint_XX=18149;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2795766 chrX_2795766_T_C T C 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=2.369;CADD_Rawscore=0.209184;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||6/9|ENST00000381174.10:c.322+1163T>C|||||||rs311180||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2795766T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||4/8|ENST00000419513.7:c.256+1163T>C|||||||rs311180||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2795766T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||4/7|ENST00000509484.3:c.256+1163T>C|||||||rs311180||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2795766T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||1/2|ENST00000519244.1:n.69+1163T>C|||||||rs311180||1||HGNC|HGNC:12806|3||||||||Ensembl||T|T||||chrX:g.2795766T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||6/10|ENST00000644266.2:c.322+1163T>C|||||||rs311180||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2795766T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||6/10|NM_001141919.2:c.322+1163T>C|||||||rs311180||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2795766T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||6/9|NM_001141920.2:c.325+1163T>C|||||||rs311180||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2795766T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||6/9|NM_175569.3:c.322+1163T>C|||||||rs311180||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2795766T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||6/10|XM_005274587.5:c.325+1163T>C|||||||rs311180||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2795766T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||6/7|XM_011545575.4:c.325+1163T>C|||||||rs311180||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2795766T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||5/9|XM_017029787.3:c.283+1163T>C|||||||rs311180||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2795766T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-44|35|23|-7;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74623;gnomADv4_1_AC_joint_XX=53225;gnomADv4_1_AC_joint_XY=21398;gnomADv4_1_AF_grpmax_joint=0.793803;gnomADv4_1_AF_joint=0.683179;gnomADv4_1_AF_joint_XX=0.688409;gnomADv4_1_AF_joint_XY=0.67051;gnomADv4_1_AN_grpmax_joint=10102;gnomADv4_1_AN_joint=109229;gnomADv4_1_AN_joint_XX=77316;gnomADv4_1_AN_joint_XY=31913;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=18483;gnomADv4_1_nhomalt_joint_XX=18483;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2796236 chrX_2796236_C_T C T 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=0.016;CADD_Rawscore=-1.12339;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||6/9|ENST00000381174.10:c.323-1074C>T|||||||rs311182||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2796236C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||4/8|ENST00000419513.7:c.257-1074C>T|||||||rs311182||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2796236C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||4/7|ENST00000509484.3:c.257-1074C>T|||||||rs311182||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2796236C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||1/2|ENST00000519244.1:n.70-1074C>T|||||||rs311182||1||HGNC|HGNC:12806|3||||||||Ensembl||C|C||||chrX:g.2796236C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||6/10|ENST00000644266.2:c.323-1074C>T|||||||rs311182||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2796236C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||6/10|NM_001141919.2:c.323-1074C>T|||||||rs311182||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2796236C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||6/9|NM_001141920.2:c.326-1074C>T|||||||rs311182||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2796236C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||6/9|NM_175569.3:c.323-1074C>T|||||||rs311182||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2796236C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||6/10|XM_005274587.5:c.326-1074C>T|||||||rs311182||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2796236C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||6/7|XM_011545575.4:c.326-1074C>T|||||||rs311182||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2796236C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||5/9|XM_017029787.3:c.284-1074C>T|||||||rs311182||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2796236C>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|-1|1|-32|0;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71704;gnomADv4_1_AC_joint_XX=52057;gnomADv4_1_AC_joint_XY=19647;gnomADv4_1_AF_grpmax_joint=0.794286;gnomADv4_1_AF_joint=0.683657;gnomADv4_1_AF_joint_XX=0.687784;gnomADv4_1_AF_joint_XY=0.672958;gnomADv4_1_AN_grpmax_joint=9450;gnomADv4_1_AN_joint=104883;gnomADv4_1_AN_joint_XX=75688;gnomADv4_1_AN_joint_XY=29195;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=18035;gnomADv4_1_nhomalt_joint_XX=18035;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2796468 chrX_2796468_A_ATGTGTG A ATGTGTG 44 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=0.68;CADDIndel_Rawscore=-0.116102;CSQ=TGTGTG|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||6/9|ENST00000381174.10:c.323-826_323-821dup|||||||rs200727930||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||21|chrX:g.2796484_2796489dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||4/8|ENST00000419513.7:c.257-826_257-821dup|||||||rs200727930||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||21|chrX:g.2796484_2796489dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||4/7|ENST00000509484.3:c.257-826_257-821dup|||||||rs200727930||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||21|chrX:g.2796484_2796489dup|||||||||||||,TGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||1/2|ENST00000519244.1:n.70-826_70-821dup|||||||rs200727930||1||HGNC|HGNC:12806|3||||||||Ensembl||||||21|chrX:g.2796484_2796489dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||6/10|ENST00000644266.2:c.323-826_323-821dup|||||||rs200727930||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||21|chrX:g.2796484_2796489dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||6/10|NM_001141919.2:c.323-826_323-821dup|||||||rs200727930||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||21|chrX:g.2796484_2796489dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||6/9|NM_001141920.2:c.326-826_326-821dup|||||||rs200727930||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||21|chrX:g.2796484_2796489dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||6/9|NM_175569.3:c.323-826_323-821dup|||||||rs200727930||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||21|chrX:g.2796484_2796489dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||6/10|XM_005274587.5:c.326-826_326-821dup|||||||rs200727930||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||21|chrX:g.2796484_2796489dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||6/7|XM_011545575.4:c.326-826_326-821dup|||||||rs200727930||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||21|chrX:g.2796484_2796489dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||5/9|XM_017029787.3:c.284-826_284-821dup|||||||rs200727930||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||21|chrX:g.2796484_2796489dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49145;gnomADv4_1_AC_joint_XX=38849;gnomADv4_1_AC_joint_XY=10296;gnomADv4_1_AF_grpmax_joint=0.658824;gnomADv4_1_AF_joint=0.515293;gnomADv4_1_AF_joint_XX=0.526866;gnomADv4_1_AF_joint_XY=0.475852;gnomADv4_1_AN_grpmax_joint=170;gnomADv4_1_AN_joint=95373;gnomADv4_1_AN_joint_XX=73736;gnomADv4_1_AN_joint_XY=21637;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=11505;gnomADv4_1_nhomalt_joint_XX=11505;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2796490 chrX_2796490_A_G A G 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.935;CADD_Rawscore=-0.03513;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||6/9|ENST00000381174.10:c.323-820A>G|||||||rs5939326||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2796490A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||4/8|ENST00000419513.7:c.257-820A>G|||||||rs5939326||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2796490A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||4/7|ENST00000509484.3:c.257-820A>G|||||||rs5939326||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2796490A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||1/2|ENST00000519244.1:n.70-820A>G|||||||rs5939326||1||HGNC|HGNC:12806|3||||||||Ensembl||A|A||||chrX:g.2796490A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||6/10|ENST00000644266.2:c.323-820A>G|||||||rs5939326||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2796490A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||6/10|NM_001141919.2:c.323-820A>G|||||||rs5939326||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2796490A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||6/9|NM_001141920.2:c.326-820A>G|||||||rs5939326||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2796490A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||6/9|NM_175569.3:c.323-820A>G|||||||rs5939326||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2796490A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||6/10|XM_005274587.5:c.326-820A>G|||||||rs5939326||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2796490A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||6/7|XM_011545575.4:c.326-820A>G|||||||rs5939326||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2796490A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||5/9|XM_017029787.3:c.284-820A>G|||||||rs5939326||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2796490A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|48|14|-5|-7;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53144;gnomADv4_1_AC_joint_XX=41350;gnomADv4_1_AC_joint_XY=11794;gnomADv4_1_AF_grpmax_joint=0.703211;gnomADv4_1_AF_joint=0.534675;gnomADv4_1_AF_joint_XX=0.55266;gnomADv4_1_AF_joint_XY=0.479919;gnomADv4_1_AN_grpmax_joint=8565;gnomADv4_1_AN_joint=99395;gnomADv4_1_AN_joint_XX=74820;gnomADv4_1_AN_joint_XY=24575;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=12743;gnomADv4_1_nhomalt_joint_XX=12743;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2797384 chrX_2797384_A_G A G 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=3.433;CADD_Rawscore=0.314611;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.373+24A>G|||||||rs4484858||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2797384A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.307+24A>G|||||||rs4484858||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2797384A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.307+24A>G|||||||rs4484858||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2797384A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.120+24A>G|||||||rs4484858||1||HGNC|HGNC:12806|3||||||||Ensembl||A|A||||chrX:g.2797384A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.373+24A>G|||||||rs4484858||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2797384A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.373+24A>G|||||||rs4484858||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2797384A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.376+24A>G|||||||rs4484858||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2797384A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.373+24A>G|||||||rs4484858||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2797384A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.376+24A>G|||||||rs4484858||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2797384A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+24A>G|||||||rs4484858||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2797384A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.334+24A>G|||||||rs4484858||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2797384A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|-49|2|-24|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=741919;gnomADv4_1_AC_joint_XX=508490;gnomADv4_1_AC_joint_XY=233429;gnomADv4_1_AF_grpmax_joint=0.785504;gnomADv4_1_AF_joint=0.633204;gnomADv4_1_AF_joint_XX=0.633967;gnomADv4_1_AF_joint_XY=0.631546;gnomADv4_1_AN_grpmax_joint=44565;gnomADv4_1_AN_joint=1171691;gnomADv4_1_AN_joint_XX=802076;gnomADv4_1_AN_joint_XY=369615;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=162613;gnomADv4_1_nhomalt_joint_XX=162613;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2798992 chrX_2798992_A_G A G 58 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=4.153;CADD_Rawscore=0.378861;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.373+1632A>G|||||||rs2316291||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2798992A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.307+1632A>G|||||||rs2316291||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2798992A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.307+1632A>G|||||||rs2316291||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2798992A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.120+1632A>G|||||||rs2316291||1||HGNC|HGNC:12806|3||||||||Ensembl||A|A||||chrX:g.2798992A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.373+1632A>G|||||||rs2316291||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2798992A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.373+1632A>G|||||||rs2316291||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2798992A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.376+1632A>G|||||||rs2316291||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2798992A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.373+1632A>G|||||||rs2316291||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2798992A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.376+1632A>G|||||||rs2316291||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2798992A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+1632A>G|||||||rs2316291||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2798992A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.334+1632A>G|||||||rs2316291||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2798992A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|-38|2|11|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54506;gnomADv4_1_AC_joint_XX=39220;gnomADv4_1_AC_joint_XY=15286;gnomADv4_1_AF_grpmax_joint=0.702724;gnomADv4_1_AF_joint=0.502517;gnomADv4_1_AF_joint_XX=0.505451;gnomADv4_1_AF_joint_XY=0.495141;gnomADv4_1_AN_grpmax_joint=9984;gnomADv4_1_AN_joint=108466;gnomADv4_1_AN_joint_XX=77594;gnomADv4_1_AN_joint_XY=30872;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=11785;gnomADv4_1_nhomalt_joint_XX=11785;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2799026 chrX_2799026_T_C T C 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=2.098;CADD_Rawscore=0.176687;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.373+1666T>C|||||||rs311189||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2799026T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.307+1666T>C|||||||rs311189||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2799026T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.307+1666T>C|||||||rs311189||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2799026T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.120+1666T>C|||||||rs311189||1||HGNC|HGNC:12806|3||||||||Ensembl||T|T||||chrX:g.2799026T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.373+1666T>C|||||||rs311189||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2799026T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.373+1666T>C|||||||rs311189||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2799026T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.376+1666T>C|||||||rs311189||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2799026T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.373+1666T>C|||||||rs311189||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2799026T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.376+1666T>C|||||||rs311189||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2799026T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+1666T>C|||||||rs311189||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2799026T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.334+1666T>C|||||||rs311189||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2799026T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-32|17|50|-4;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=67761;gnomADv4_1_AC_joint_XX=48643;gnomADv4_1_AC_joint_XY=19118;gnomADv4_1_AF_grpmax_joint=0.76079;gnomADv4_1_AF_joint=0.62096;gnomADv4_1_AF_joint_XX=0.626197;gnomADv4_1_AF_joint_XY=0.608021;gnomADv4_1_AN_grpmax_joint=10125;gnomADv4_1_AN_joint=109123;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=31443;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=15405;gnomADv4_1_nhomalt_joint_XX=15405;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2799193 chrX_2799193_C_T C T 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.706;CADD_Rawscore=-0.106602;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.373+1833C>T|||||||rs5939327||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2799193C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.307+1833C>T|||||||rs5939327||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2799193C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.307+1833C>T|||||||rs5939327||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2799193C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.120+1833C>T|||||||rs5939327||1||HGNC|HGNC:12806|3||||||||Ensembl||C|C||||chrX:g.2799193C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.373+1833C>T|||||||rs5939327||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2799193C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.373+1833C>T|||||||rs5939327||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2799193C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.376+1833C>T|||||||rs5939327||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2799193C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.373+1833C>T|||||||rs5939327||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2799193C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.376+1833C>T|||||||rs5939327||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2799193C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+1833C>T|||||||rs5939327||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2799193C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.334+1833C>T|||||||rs5939327||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2799193C>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|-1|-47|-2|21;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54350;gnomADv4_1_AC_joint_XX=38754;gnomADv4_1_AC_joint_XY=15596;gnomADv4_1_AF_grpmax_joint=0.702214;gnomADv4_1_AF_joint=0.49598;gnomADv4_1_AF_joint_XX=0.498816;gnomADv4_1_AF_joint_XY=0.489071;gnomADv4_1_AN_grpmax_joint=10118;gnomADv4_1_AN_joint=109581;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=31889;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=11527;gnomADv4_1_nhomalt_joint_XX=11527;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2799497 chrX_2799497_A_C A C 53 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=1.551;CADD_Rawscore=0.096924;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.373+2137A>C|||||||rs311190||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2799497A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.307+2137A>C|||||||rs311190||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2799497A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.307+2137A>C|||||||rs311190||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2799497A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.120+2137A>C|||||||rs311190||1||HGNC|HGNC:12806|3||||||||Ensembl||A|A||||chrX:g.2799497A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.373+2137A>C|||||||rs311190||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2799497A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.373+2137A>C|||||||rs311190||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2799497A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.376+2137A>C|||||||rs311190||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2799497A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.373+2137A>C|||||||rs311190||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2799497A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.376+2137A>C|||||||rs311190||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2799497A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+2137A>C|||||||rs311190||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2799497A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.334+2137A>C|||||||rs311190||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2799497A>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|7|2|1|6;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=67241;gnomADv4_1_AC_joint_XX=48091;gnomADv4_1_AC_joint_XY=19150;gnomADv4_1_AF_grpmax_joint=0.757198;gnomADv4_1_AF_joint=0.613866;gnomADv4_1_AF_joint_XX=0.619091;gnomADv4_1_AF_joint_XY=0.601124;gnomADv4_1_AN_grpmax_joint=10107;gnomADv4_1_AN_joint=109537;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=31857;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=15093;gnomADv4_1_nhomalt_joint_XX=15093;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2800094 chrX_2800094_T_C T C 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=2.645;CADD_Rawscore=0.239076;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.373+2734T>C|||||||rs5939329||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2800094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.307+2734T>C|||||||rs5939329||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2800094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.307+2734T>C|||||||rs5939329||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2800094T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.120+2734T>C|||||||rs5939329||1||HGNC|HGNC:12806|3||||||||Ensembl||T|T||||chrX:g.2800094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.373+2734T>C|||||||rs5939329||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2800094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.373+2734T>C|||||||rs5939329||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2800094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.376+2734T>C|||||||rs5939329||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2800094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.373+2734T>C|||||||rs5939329||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2800094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.376+2734T>C|||||||rs5939329||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2800094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+2734T>C|||||||rs5939329||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2800094T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.334+2734T>C|||||||rs5939329||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2800094T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|46|16|14|49;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=76594;gnomADv4_1_AC_joint_XX=54259;gnomADv4_1_AC_joint_XY=22335;gnomADv4_1_AF_grpmax_joint=0.829867;gnomADv4_1_AF_joint=0.697241;gnomADv4_1_AF_joint_XX=0.698152;gnomADv4_1_AF_joint_XY=0.695037;gnomADv4_1_AN_grpmax_joint=10192;gnomADv4_1_AN_joint=109853;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=32135;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=19878;gnomADv4_1_nhomalt_joint_XX=19878;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2801070 chrX_2801070_G_T G T 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.333333;AF_XX=0.5;AF_XY=0.0;AN=3;AN_XX=2;AN_XY=1;AQ=35;CADD_PHREDscore=0.978;CADD_Rawscore=-0.023488;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.373+3710G>T|||||||rs311191||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2801070G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.307+3710G>T|||||||rs311191||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2801070G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.307+3710G>T|||||||rs311191||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2801070G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.120+3710G>T|||||||rs311191||1||HGNC|HGNC:12806|3||||||||Ensembl||G|G||||chrX:g.2801070G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.373+3710G>T|||||||rs311191||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2801070G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.373+3710G>T|||||||rs311191||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2801070G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.376+3710G>T|||||||rs311191||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2801070G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.373+3710G>T|||||||rs311191||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2801070G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.376+3710G>T|||||||rs311191||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2801070G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+3710G>T|||||||rs311191||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2801070G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.334+3710G>T|||||||rs311191||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2801070G>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|36|35|-2|35;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29911;gnomADv4_1_AC_joint_XX=21900;gnomADv4_1_AC_joint_XY=8011;gnomADv4_1_AF_grpmax_joint=0.544507;gnomADv4_1_AF_joint=0.276347;gnomADv4_1_AF_joint_XX=0.282646;gnomADv4_1_AF_joint_XY=0.260478;gnomADv4_1_AN_grpmax_joint=29535;gnomADv4_1_AN_joint=108237;gnomADv4_1_AN_joint_XX=77482;gnomADv4_1_AN_joint_XY=30755;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4287;gnomADv4_1_nhomalt_joint_XX=4287;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2801201 chrX_2801201_CTG_C CTG C 46 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=46;CADDIndel_PHREDscore=0.849;CADDIndel_Rawscore=-0.059921;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.373+3842_373+3843del|||||||rs140400664||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||TG|TG||||chrX:g.2801202_2801203del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.307+3842_307+3843del|||||||rs140400664||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||TG|TG||||chrX:g.2801202_2801203del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.307+3842_307+3843del|||||||rs140400664||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||TG|TG||||chrX:g.2801202_2801203del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.120+3842_120+3843del|||||||rs140400664||1||HGNC|HGNC:12806|3||||||||Ensembl||TG|TG||||chrX:g.2801202_2801203del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.373+3842_373+3843del|||||||rs140400664||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||TG|TG||||chrX:g.2801202_2801203del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.373+3842_373+3843del|||||||rs140400664||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||TG|TG||||chrX:g.2801202_2801203del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.376+3842_376+3843del|||||||rs140400664||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||TG|TG||||chrX:g.2801202_2801203del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.373+3842_373+3843del|||||||rs140400664||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||TG|TG||||chrX:g.2801202_2801203del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.376+3842_376+3843del|||||||rs140400664||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||TG|TG||||chrX:g.2801202_2801203del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+3842_376+3843del|||||||rs140400664||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||TG|TG||||chrX:g.2801202_2801203del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.334+3842_334+3843del|||||||rs140400664||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||TG|TG||||chrX:g.2801202_2801203del|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-38|-12|-3|4;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52480;gnomADv4_1_AC_joint_XX=37715;gnomADv4_1_AC_joint_XY=14765;gnomADv4_1_AF_grpmax_joint=0.675378;gnomADv4_1_AF_joint=0.481782;gnomADv4_1_AF_joint_XX=0.485968;gnomADv4_1_AF_joint_XY=0.471409;gnomADv4_1_AN_grpmax_joint=10064;gnomADv4_1_AN_joint=108929;gnomADv4_1_AN_joint_XX=77608;gnomADv4_1_AN_joint_XY=31321;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=11158;gnomADv4_1_nhomalt_joint_XX=11158;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2801257 chrX_2801257_A_G A G 50 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=4.381;CADD_Rawscore=0.399208;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.373+3897A>G|||||||rs5939330||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2801257A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.307+3897A>G|||||||rs5939330||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2801257A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.307+3897A>G|||||||rs5939330||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2801257A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.120+3897A>G|||||||rs5939330||1||HGNC|HGNC:12806|3||||||||Ensembl||A|A||||chrX:g.2801257A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.373+3897A>G|||||||rs5939330||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2801257A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.373+3897A>G|||||||rs5939330||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2801257A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.376+3897A>G|||||||rs5939330||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2801257A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.373+3897A>G|||||||rs5939330||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2801257A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.376+3897A>G|||||||rs5939330||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2801257A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+3897A>G|||||||rs5939330||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2801257A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.334+3897A>G|||||||rs5939330||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2801257A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|38|20|-1|8;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53484;gnomADv4_1_AC_joint_XX=38416;gnomADv4_1_AC_joint_XY=15068;gnomADv4_1_AF_grpmax_joint=0.680788;gnomADv4_1_AF_joint=0.490404;gnomADv4_1_AF_joint_XX=0.494631;gnomADv4_1_AF_joint_XY=0.479949;gnomADv4_1_AN_grpmax_joint=10056;gnomADv4_1_AN_joint=109061;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=31395;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=11294;gnomADv4_1_nhomalt_joint_XX=11294;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2801739 chrX_2801739_C_G C G 48 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=0.839;CADD_Rawscore=-0.062863;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.373+4379C>G|||||||rs311192||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2801739C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.307+4379C>G|||||||rs311192||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2801739C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.307+4379C>G|||||||rs311192||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2801739C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.120+4379C>G|||||||rs311192||1||HGNC|HGNC:12806|3||||||||Ensembl||C|C||||chrX:g.2801739C>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.373+4379C>G|||||||rs311192||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2801739C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.373+4379C>G|||||||rs311192||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2801739C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.376+4379C>G|||||||rs311192||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2801739C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.373+4379C>G|||||||rs311192||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2801739C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.376+4379C>G|||||||rs311192||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2801739C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+4379C>G|||||||rs311192||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2801739C>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.334+4379C>G|||||||rs311192||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2801739C>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|1|-9|-45|-9;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56525;gnomADv4_1_AC_joint_XX=40549;gnomADv4_1_AC_joint_XY=15976;gnomADv4_1_AF_grpmax_joint=0.691377;gnomADv4_1_AF_joint=0.518887;gnomADv4_1_AF_joint_XX=0.523199;gnomADv4_1_AF_joint_XY=0.508256;gnomADv4_1_AN_grpmax_joint=10171;gnomADv4_1_AN_joint=108935;gnomADv4_1_AN_joint_XX=77502;gnomADv4_1_AN_joint_XY=31433;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=11655;gnomADv4_1_nhomalt_joint_XX=11655;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2801799 chrX_2801799_C_T C T 53 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=0.898;CADD_Rawscore=-0.045685;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.373+4439C>T|||||||rs1683999||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2801799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.307+4439C>T|||||||rs1683999||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2801799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.307+4439C>T|||||||rs1683999||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2801799C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.120+4439C>T|||||||rs1683999||1||HGNC|HGNC:12806|3||||||||Ensembl||C|C||||chrX:g.2801799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.373+4439C>T|||||||rs1683999||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2801799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.373+4439C>T|||||||rs1683999||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2801799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.376+4439C>T|||||||rs1683999||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2801799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.373+4439C>T|||||||rs1683999||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2801799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.376+4439C>T|||||||rs1683999||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2801799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+4439C>T|||||||rs1683999||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2801799C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.334+4439C>T|||||||rs1683999||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2801799C>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|-45|29|36|-41;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54921;gnomADv4_1_AC_joint_XX=39099;gnomADv4_1_AC_joint_XY=15822;gnomADv4_1_AF_grpmax_joint=0.673008;gnomADv4_1_AF_joint=0.501099;gnomADv4_1_AF_joint_XX=0.503788;gnomADv4_1_AF_joint_XY=0.494577;gnomADv4_1_AN_grpmax_joint=10303;gnomADv4_1_AN_joint=109601;gnomADv4_1_AN_joint_XX=77610;gnomADv4_1_AN_joint_XY=31991;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=10843;gnomADv4_1_nhomalt_joint_XX=10843;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2801918 chrX_2801918_A_G A G 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.333333;AF_XX=0.5;AF_XY=0.0;AN=3;AN_XX=2;AN_XY=1;AQ=47;CADD_PHREDscore=2.931;CADD_Rawscore=0.267831;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.373+4558A>G|||||||rs60789854||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2801918A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.307+4558A>G|||||||rs60789854||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2801918A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.307+4558A>G|||||||rs60789854||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2801918A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.120+4558A>G|||||||rs60789854||1||HGNC|HGNC:12806|3||||||||Ensembl||A|A||||chrX:g.2801918A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.373+4558A>G|||||||rs60789854||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2801918A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.373+4558A>G|||||||rs60789854||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2801918A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.376+4558A>G|||||||rs60789854||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2801918A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.373+4558A>G|||||||rs60789854||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2801918A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.376+4558A>G|||||||rs60789854||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2801918A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+4558A>G|||||||rs60789854||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2801918A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.334+4558A>G|||||||rs60789854||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2801918A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|-27|2|-29|-38;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21440;gnomADv4_1_AC_joint_XX=15403;gnomADv4_1_AC_joint_XY=6037;gnomADv4_1_AF_grpmax_joint=0.259933;gnomADv4_1_AF_joint=0.196156;gnomADv4_1_AF_joint_XX=0.198334;gnomADv4_1_AF_joint_XY=0.190809;gnomADv4_1_AN_grpmax_joint=29977;gnomADv4_1_AN_joint=109301;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=31639;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1644;gnomADv4_1_nhomalt_joint_XX=1644;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2801929 chrX_2801929_G_T G T 54 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=1.059;CADD_Rawscore=-0.003064;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.373+4569G>T|||||||rs311193||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2801929G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.307+4569G>T|||||||rs311193||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2801929G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.307+4569G>T|||||||rs311193||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2801929G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.120+4569G>T|||||||rs311193||1||HGNC|HGNC:12806|3||||||||Ensembl||G|G||||chrX:g.2801929G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.373+4569G>T|||||||rs311193||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2801929G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.373+4569G>T|||||||rs311193||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2801929G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.376+4569G>T|||||||rs311193||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2801929G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.373+4569G>T|||||||rs311193||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2801929G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.376+4569G>T|||||||rs311193||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2801929G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+4569G>T|||||||rs311193||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2801929G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.334+4569G>T|||||||rs311193||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2801929G>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|-44|-38|-40|-38;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53342;gnomADv4_1_AC_joint_XX=38157;gnomADv4_1_AC_joint_XY=15185;gnomADv4_1_AF_grpmax_joint=0.668234;gnomADv4_1_AF_joint=0.489376;gnomADv4_1_AF_joint_XX=0.491537;gnomADv4_1_AF_joint_XY=0.48403;gnomADv4_1_AN_grpmax_joint=10206;gnomADv4_1_AN_joint=109000;gnomADv4_1_AN_joint_XX=77628;gnomADv4_1_AN_joint_XY=31372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=10417;gnomADv4_1_nhomalt_joint_XX=10417;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2802661 chrX_2802661_A_G A G 51 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=4.207;CADD_Rawscore=0.3836;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.373+5301A>G|||||||rs311194||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2802661A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.308-4040A>G|||||||rs311194||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2802661A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.307+5301A>G|||||||rs311194||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2802661A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.120+5301A>G|||||||rs311194||1||HGNC|HGNC:12806|3||||||||Ensembl||A|A||||chrX:g.2802661A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.374-4040A>G|||||||rs311194||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2802661A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.374-4040A>G|||||||rs311194||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2802661A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.376+5301A>G|||||||rs311194||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2802661A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.373+5301A>G|||||||rs311194||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2802661A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.377-4040A>G|||||||rs311194||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2802661A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+5301A>G|||||||rs311194||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2802661A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.335-4040A>G|||||||rs311194||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2802661A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|36|-21|19|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54946;gnomADv4_1_AC_joint_XX=39977;gnomADv4_1_AC_joint_XY=14969;gnomADv4_1_AF_grpmax_joint=0.683182;gnomADv4_1_AF_joint=0.515455;gnomADv4_1_AF_joint_XX=0.517167;gnomADv4_1_AF_joint_XY=0.51094;gnomADv4_1_AN_grpmax_joint=9829;gnomADv4_1_AN_joint=106597;gnomADv4_1_AN_joint_XX=77300;gnomADv4_1_AN_joint_XY=29297;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=11463;gnomADv4_1_nhomalt_joint_XX=11463;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2803605 chrX_2803605_G_T G T 41 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=41;CADD_PHREDscore=0.291;CADD_Rawscore=-0.32987;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.374-4580G>T|||||||rs311195||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2803605G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.308-3096G>T|||||||rs311195||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2803605G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.308-4580G>T|||||||rs311195||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2803605G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.121-4580G>T|||||||rs311195||1||HGNC|HGNC:12806|3||||||||Ensembl||G|G||||chrX:g.2803605G>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.374-3096G>T|||||||rs311195||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2803605G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.374-3096G>T|||||||rs311195||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2803605G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.377-4580G>T|||||||rs311195||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2803605G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.374-4580G>T|||||||rs311195||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2803605G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.377-3096G>T|||||||rs311195||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2803605G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+6245G>T|||||||rs311195||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2803605G>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.335-3096G>T|||||||rs311195||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2803605G>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|36|11|4|-1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56229;gnomADv4_1_AC_joint_XX=41148;gnomADv4_1_AC_joint_XY=15081;gnomADv4_1_AF_grpmax_joint=0.677188;gnomADv4_1_AF_joint=0.522924;gnomADv4_1_AF_joint_XX=0.531189;gnomADv4_1_AF_joint_XY=0.50163;gnomADv4_1_AN_grpmax_joint=9916;gnomADv4_1_AN_joint=107528;gnomADv4_1_AN_joint_XX=77464;gnomADv4_1_AN_joint_XY=30064;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=11696;gnomADv4_1_nhomalt_joint_XX=11696;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2803747 chrX_2803747_A_G A G 56 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=2.699;CADD_Rawscore=0.244693;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.374-4438A>G|||||||rs311196||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2803747A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.308-2954A>G|||||||rs311196||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2803747A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.308-4438A>G|||||||rs311196||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2803747A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.121-4438A>G|||||||rs311196||1||HGNC|HGNC:12806|3||||||||Ensembl||A|A||||chrX:g.2803747A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.374-2954A>G|||||||rs311196||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2803747A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.374-2954A>G|||||||rs311196||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2803747A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.377-4438A>G|||||||rs311196||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2803747A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.374-4438A>G|||||||rs311196||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2803747A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.377-2954A>G|||||||rs311196||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2803747A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+6387A>G|||||||rs311196||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2803747A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.335-2954A>G|||||||rs311196||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2803747A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|20|5|34|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60963;gnomADv4_1_AC_joint_XX=43022;gnomADv4_1_AC_joint_XY=17941;gnomADv4_1_AF_grpmax_joint=0.711186;gnomADv4_1_AF_joint=0.551322;gnomADv4_1_AF_joint_XX=0.553395;gnomADv4_1_AF_joint_XY=0.546415;gnomADv4_1_AN_grpmax_joint=10370;gnomADv4_1_AN_joint=110576;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=32834;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=12652;gnomADv4_1_nhomalt_joint_XX=12652;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2803937 chrX_2803937_G_C G C 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=33;CADD_PHREDscore=2.636;CADD_Rawscore=0.238142;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.374-4248G>C|||||||rs5982862||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2803937G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.308-2764G>C|||||||rs5982862||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2803937G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.308-4248G>C|||||||rs5982862||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2803937G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.121-4248G>C|||||||rs5982862||1||HGNC|HGNC:12806|3||||||||Ensembl||G|G||||chrX:g.2803937G>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.374-2764G>C|||||||rs5982862||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2803937G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.374-2764G>C|||||||rs5982862||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2803937G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.377-4248G>C|||||||rs5982862||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2803937G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.374-4248G>C|||||||rs5982862||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2803937G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.377-2764G>C|||||||rs5982862||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2803937G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+6577G>C|||||||rs5982862||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2803937G>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.335-2764G>C|||||||rs5982862||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2803937G>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-49|25|32|0;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21289;gnomADv4_1_AC_joint_XX=15325;gnomADv4_1_AC_joint_XY=5964;gnomADv4_1_AF_grpmax_joint=0.275282;gnomADv4_1_AF_joint=0.194248;gnomADv4_1_AF_joint_XX=0.197401;gnomADv4_1_AF_joint_XY=0.186591;gnomADv4_1_AN_grpmax_joint=30071;gnomADv4_1_AN_joint=109597;gnomADv4_1_AN_joint_XX=77634;gnomADv4_1_AN_joint_XY=31963;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1700;gnomADv4_1_nhomalt_joint_XX=1700;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2804015 chrX_2804015_A_G A G 51 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=2.963;CADD_Rawscore=0.270898;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.374-4170A>G|||||||rs311197||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2804015A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.308-2686A>G|||||||rs311197||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2804015A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.308-4170A>G|||||||rs311197||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2804015A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.121-4170A>G|||||||rs311197||1||HGNC|HGNC:12806|3||||||||Ensembl||A|A||||chrX:g.2804015A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.374-2686A>G|||||||rs311197||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2804015A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.374-2686A>G|||||||rs311197||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2804015A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.377-4170A>G|||||||rs311197||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2804015A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.374-4170A>G|||||||rs311197||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2804015A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.377-2686A>G|||||||rs311197||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2804015A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+6655A>G|||||||rs311197||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2804015A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.335-2686A>G|||||||rs311197||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2804015A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|13|2|-1|-7;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64670;gnomADv4_1_AC_joint_XX=46581;gnomADv4_1_AC_joint_XY=18089;gnomADv4_1_AF_grpmax_joint=0.72721;gnomADv4_1_AF_joint=0.595795;gnomADv4_1_AF_joint_XX=0.600286;gnomADv4_1_AF_joint_XY=0.584534;gnomADv4_1_AN_grpmax_joint=10158;gnomADv4_1_AN_joint=108544;gnomADv4_1_AN_joint_XX=77598;gnomADv4_1_AN_joint_XY=30946;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=14177;gnomADv4_1_nhomalt_joint_XX=14177;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2805625 chrX_2805625_C_T C T 52 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=2.167;CADD_Rawscore=0.185224;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.374-2560C>T|||||||rs6642024||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2805625C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||5/8|ENST00000419513.7:c.308-1076C>T|||||||rs6642024||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2805625C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.308-2560C>T|||||||rs6642024||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2805625C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.121-2560C>T|||||||rs6642024||1||HGNC|HGNC:12806|3||||||||Ensembl||C|C||||chrX:g.2805625C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||7/10|ENST00000644266.2:c.374-1076C>T|||||||rs6642024||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2805625C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs6642024|3977|-1||||||||||||Ensembl||C|C||||chrX:g.2805625C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs6642024|3977|-1||||||||||||Ensembl||C|C||||chrX:g.2805625C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs6642024|3977|-1||||||||||||Ensembl||C|C||||chrX:g.2805625C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs6642024|3979|-1||||||||||||Ensembl||C|C||||chrX:g.2805625C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs6642024|3973|-1||||||||||||Ensembl||C|C||||chrX:g.2805625C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs6642024|3973|-1||||||||||||Ensembl||C|C||||chrX:g.2805625C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||7/10|NM_001141919.2:c.374-1076C>T|||||||rs6642024||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2805625C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.377-2560C>T|||||||rs6642024||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2805625C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.374-2560C>T|||||||rs6642024||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2805625C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||7/10|XM_005274587.5:c.377-1076C>T|||||||rs6642024||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2805625C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.376+8265C>T|||||||rs6642024||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2805625C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||6/9|XM_017029787.3:c.335-1076C>T|||||||rs6642024||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2805625C>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|14|-18|-10|5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54848;gnomADv4_1_AC_joint_XX=40524;gnomADv4_1_AC_joint_XY=14324;gnomADv4_1_AF_grpmax_joint=0.724519;gnomADv4_1_AF_joint=0.514898;gnomADv4_1_AF_joint_XX=0.525767;gnomADv4_1_AF_joint_XY=0.48645;gnomADv4_1_AN_grpmax_joint=50900;gnomADv4_1_AN_joint=106522;gnomADv4_1_AN_joint_XX=77076;gnomADv4_1_AN_joint_XY=29446;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13212;gnomADv4_1_nhomalt_joint_XX=13212;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2806719 chrX_2806719_T_C T C 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=1.607;CADD_Rawscore=0.10626;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.374-1466T>C|||||||rs3749988||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2806719T>C|||||||||||||,C|missense_variant|MODERATE|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding|6/9||ENST00000419513.7:c.326T>C|ENSP00000411004.3:p.Leu109Pro|553|326|109|L/P|cTc/cCc|rs3749988||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2806719T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.308-1466T>C|||||||rs3749988||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2806719T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.121-1466T>C|||||||rs3749988||1||HGNC|HGNC:12806|3||||||||Ensembl||T|T||||chrX:g.2806719T>C|||||||||||||,C|missense_variant|MODERATE|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding|8/11||ENST00000644266.2:c.392T>C|ENSP00000494087.1:p.Leu131Pro|627|392|131|L/P|cTc/cCc|rs3749988||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2806719T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs3749988|2883|-1||||||||||||Ensembl||T|T||||chrX:g.2806719T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs3749988|2883|-1||||||||||||Ensembl||T|T||||chrX:g.2806719T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs3749988|2883|-1||||||||||||Ensembl||T|T||||chrX:g.2806719T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs3749988|2885|-1||||||||||||Ensembl||T|T||||chrX:g.2806719T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs3749988|2879|-1||||||||||||Ensembl||T|T||||chrX:g.2806719T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs3749988|2879|-1||||||||||||Ensembl||T|T||||chrX:g.2806719T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs3749988|4391|-1||||||||||||Ensembl||T|T||||chrX:g.2806719T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs3749988|4390|-1||||||||||||Ensembl||T|T||||chrX:g.2806719T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs3749988|4420|-1||||||||||||Ensembl||T|T||||chrX:g.2806719T>C|||||||||||||,C|missense_variant|MODERATE|XG|7499|Transcript|NM_001141919.2|protein_coding|8/11||NM_001141919.2:c.392T>C|NP_001135391.1:p.Leu131Pro|627|392|131|L/P|cTc/cCc|rs3749988||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2806719T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.377-1466T>C|||||||rs3749988||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2806719T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.374-1466T>C|||||||rs3749988||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2806719T>C|||||||||||||,C|missense_variant|MODERATE|XG|7499|Transcript|XM_005274587.5|protein_coding|8/11||XM_005274587.5:c.395T>C|XP_005274644.1:p.Leu132Pro|630|395|132|L/P|cTc/cCc|rs3749988||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2806719T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-7645T>C|||||||rs3749988||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2806719T>C|||||||||||||,C|missense_variant|MODERATE|XG|7499|Transcript|XM_017029787.3|protein_coding|7/10||XM_017029787.3:c.353T>C|XP_016885276.1:p.Leu118Pro|588|353|118|L/P|cTc/cCc|rs3749988||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2806719T>C|||||||||||||;REVEL_score=0.058;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-12|-18|3|26;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810824,ENST00000810825,ENST00000810826,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1138263;gnomADv4_1_AC_joint_XX=774278;gnomADv4_1_AC_joint_XY=363985;gnomADv4_1_AF_grpmax_joint=0.998043;gnomADv4_1_AF_joint=0.988949;gnomADv4_1_AF_joint_XX=0.988656;gnomADv4_1_AF_joint_XY=0.989571;gnomADv4_1_AN_grpmax_joint=863131;gnomADv4_1_AN_joint=1150983;gnomADv4_1_AN_joint_XX=783162;gnomADv4_1_AN_joint_XY=367821;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=383117;gnomADv4_1_nhomalt_joint_XX=383117;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2807133 chrX_2807133_C_CTG C CTG 50 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADDIndel_PHREDscore=0.205;CADDIndel_Rawscore=-0.420783;CSQ=TG|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.374-1049_374-1048dup|||||||rs10633727||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||4|chrX:g.2807136_2807137dup|||||||||||||,TG|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||6/8|ENST00000419513.7:c.352+391_352+392dup|||||||rs10633727||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||4|chrX:g.2807136_2807137dup|||||||||||||,TG|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.308-1049_308-1048dup|||||||rs10633727||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||4|chrX:g.2807136_2807137dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.121-1049_121-1048dup|||||||rs10633727||1||HGNC|HGNC:12806|3||||||||Ensembl||||||4|chrX:g.2807136_2807137dup|||||||||||||,TG|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||8/10|ENST00000644266.2:c.418+391_418+392dup|||||||rs10633727||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||4|chrX:g.2807136_2807137dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs10633727|2468|-1||||||||||||Ensembl|||||||chrX:g.2807136_2807137dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs10633727|2468|-1||||||||||||Ensembl|||||||chrX:g.2807136_2807137dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs10633727|2468|-1||||||||||||Ensembl|||||||chrX:g.2807136_2807137dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs10633727|2470|-1||||||||||||Ensembl|||||||chrX:g.2807136_2807137dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs10633727|2464|-1||||||||||||Ensembl|||||||chrX:g.2807136_2807137dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs10633727|2464|-1||||||||||||Ensembl|||||||chrX:g.2807136_2807137dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs10633727|3976|-1||||||||||||Ensembl|||||||chrX:g.2807136_2807137dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs10633727|3975|-1||||||||||||Ensembl|||||||chrX:g.2807136_2807137dup|||||||||||||,TG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs10633727|4005|-1||||||||||||Ensembl|||||||chrX:g.2807136_2807137dup|||||||||||||,TG|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||8/10|NM_001141919.2:c.418+391_418+392dup|||||||rs10633727||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||4|chrX:g.2807136_2807137dup|||||||||||||,TG|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.377-1049_377-1048dup|||||||rs10633727||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||4|chrX:g.2807136_2807137dup|||||||||||||,TG|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.374-1049_374-1048dup|||||||rs10633727||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||4|chrX:g.2807136_2807137dup|||||||||||||,TG|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||8/10|XM_005274587.5:c.421+391_421+392dup|||||||rs10633727||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||4|chrX:g.2807136_2807137dup|||||||||||||,TG|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-7228_377-7227dup|||||||rs10633727||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||4|chrX:g.2807136_2807137dup|||||||||||||,TG|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||7/9|XM_017029787.3:c.379+391_379+392dup|||||||rs10633727||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||4|chrX:g.2807136_2807137dup|||||||||||||;TYPE=INDEL;VEP_Allele=TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810824,ENST00000810825,ENST00000810826,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=105962;gnomADv4_1_AC_joint_XX=73641;gnomADv4_1_AC_joint_XY=32321;gnomADv4_1_AF_grpmax_joint=0.99684;gnomADv4_1_AF_joint=0.946935;gnomADv4_1_AF_joint_XX=0.946348;gnomADv4_1_AF_joint_XY=0.948275;gnomADv4_1_AN_grpmax_joint=53158;gnomADv4_1_AN_joint=111900;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=34084;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=35056;gnomADv4_1_nhomalt_joint_XX=35056;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2807258 chrX_2807258_A_C A C 51 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=0.835;CADD_Rawscore=-0.064191;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.374-927A>C|||||||rs5939334||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2807258A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||6/8|ENST00000419513.7:c.352+513A>C|||||||rs5939334||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2807258A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.308-927A>C|||||||rs5939334||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2807258A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.121-927A>C|||||||rs5939334||1||HGNC|HGNC:12806|3||||||||Ensembl||A|A||||chrX:g.2807258A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||8/10|ENST00000644266.2:c.418+513A>C|||||||rs5939334||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2807258A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs5939334|2344|-1||||||||||||Ensembl||A|A||||chrX:g.2807258A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs5939334|2344|-1||||||||||||Ensembl||A|A||||chrX:g.2807258A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs5939334|2344|-1||||||||||||Ensembl||A|A||||chrX:g.2807258A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs5939334|2346|-1||||||||||||Ensembl||A|A||||chrX:g.2807258A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs5939334|2340|-1||||||||||||Ensembl||A|A||||chrX:g.2807258A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs5939334|2340|-1||||||||||||Ensembl||A|A||||chrX:g.2807258A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs5939334|3852|-1||||||||||||Ensembl||A|A||||chrX:g.2807258A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs5939334|3851|-1||||||||||||Ensembl||A|A||||chrX:g.2807258A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs5939334|3881|-1||||||||||||Ensembl||A|A||||chrX:g.2807258A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||8/10|NM_001141919.2:c.418+513A>C|||||||rs5939334||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2807258A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.377-927A>C|||||||rs5939334||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2807258A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.374-927A>C|||||||rs5939334||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2807258A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||8/10|XM_005274587.5:c.421+513A>C|||||||rs5939334||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2807258A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-7106A>C|||||||rs5939334||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2807258A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||7/9|XM_017029787.3:c.379+513A>C|||||||rs5939334||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2807258A>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-18|30|31|1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810824,ENST00000810825,ENST00000810826,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=101773;gnomADv4_1_AC_joint_XX=70462;gnomADv4_1_AC_joint_XY=31311;gnomADv4_1_AF_grpmax_joint=0.995977;gnomADv4_1_AF_joint=0.907367;gnomADv4_1_AF_joint_XX=0.905472;gnomADv4_1_AF_joint_XY=0.911661;gnomADv4_1_AN_grpmax_joint=53195;gnomADv4_1_AN_joint=112163;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=34345;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=32591;gnomADv4_1_nhomalt_joint_XX=32591;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2807477 chrX_2807477_T_C T C 43 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=43;CADD_PHREDscore=0.976;CADD_Rawscore=-0.024087;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.374-708T>C|||||||rs7049870||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2807477T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||6/8|ENST00000419513.7:c.353-708T>C|||||||rs7049870||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2807477T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.308-708T>C|||||||rs7049870||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2807477T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.121-708T>C|||||||rs7049870||1||HGNC|HGNC:12806|3||||||||Ensembl||T|T||||chrX:g.2807477T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||8/10|ENST00000644266.2:c.419-708T>C|||||||rs7049870||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2807477T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs7049870|2125|-1||||||||||||Ensembl||T|T||||chrX:g.2807477T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs7049870|2125|-1||||||||||||Ensembl||T|T||||chrX:g.2807477T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs7049870|2125|-1||||||||||||Ensembl||T|T||||chrX:g.2807477T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs7049870|2127|-1||||||||||||Ensembl||T|T||||chrX:g.2807477T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs7049870|2121|-1||||||||||||Ensembl||T|T||||chrX:g.2807477T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs7049870|2121|-1||||||||||||Ensembl||T|T||||chrX:g.2807477T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs7049870|3633|-1||||||||||||Ensembl||T|T||||chrX:g.2807477T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs7049870|3632|-1||||||||||||Ensembl||T|T||||chrX:g.2807477T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs7049870|3662|-1||||||||||||Ensembl||T|T||||chrX:g.2807477T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||8/10|NM_001141919.2:c.419-708T>C|||||||rs7049870||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2807477T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.377-708T>C|||||||rs7049870||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2807477T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.374-708T>C|||||||rs7049870||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2807477T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||8/10|XM_005274587.5:c.422-708T>C|||||||rs7049870||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2807477T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-6887T>C|||||||rs7049870||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2807477T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||7/9|XM_017029787.3:c.380-708T>C|||||||rs7049870||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2807477T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|1|21|20|42;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810824,ENST00000810825,ENST00000810826,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=101251;gnomADv4_1_AC_joint_XX=70471;gnomADv4_1_AC_joint_XY=30780;gnomADv4_1_AF_grpmax_joint=0.996038;gnomADv4_1_AF_joint=0.906398;gnomADv4_1_AF_joint_XX=0.905564;gnomADv4_1_AF_joint_XY=0.908313;gnomADv4_1_AN_grpmax_joint=53002;gnomADv4_1_AN_joint=111707;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=33887;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=32599;gnomADv4_1_nhomalt_joint_XX=32599;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2807502 chrX_2807502_A_T A T 28 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=28;CADD_PHREDscore=1.147;CADD_Rawscore=0.017935;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.374-683A>T|||||||rs7063464||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2807502A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||6/8|ENST00000419513.7:c.353-683A>T|||||||rs7063464||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2807502A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.308-683A>T|||||||rs7063464||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2807502A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.121-683A>T|||||||rs7063464||1||HGNC|HGNC:12806|3||||||||Ensembl||A|A||||chrX:g.2807502A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||8/10|ENST00000644266.2:c.419-683A>T|||||||rs7063464||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2807502A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs7063464|2100|-1||||||||||||Ensembl||A|A||||chrX:g.2807502A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs7063464|2100|-1||||||||||||Ensembl||A|A||||chrX:g.2807502A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs7063464|2100|-1||||||||||||Ensembl||A|A||||chrX:g.2807502A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs7063464|2102|-1||||||||||||Ensembl||A|A||||chrX:g.2807502A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs7063464|2096|-1||||||||||||Ensembl||A|A||||chrX:g.2807502A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs7063464|2096|-1||||||||||||Ensembl||A|A||||chrX:g.2807502A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs7063464|3608|-1||||||||||||Ensembl||A|A||||chrX:g.2807502A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs7063464|3607|-1||||||||||||Ensembl||A|A||||chrX:g.2807502A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs7063464|3637|-1||||||||||||Ensembl||A|A||||chrX:g.2807502A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||8/10|NM_001141919.2:c.419-683A>T|||||||rs7063464||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2807502A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.377-683A>T|||||||rs7063464||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2807502A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.374-683A>T|||||||rs7063464||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2807502A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||8/10|XM_005274587.5:c.422-683A>T|||||||rs7063464||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2807502A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-6862A>T|||||||rs7063464||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2807502A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||7/9|XM_017029787.3:c.380-683A>T|||||||rs7063464||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2807502A>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|-4|-26|47|-5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810824,ENST00000810825,ENST00000810826,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=101104;gnomADv4_1_AC_joint_XX=70467;gnomADv4_1_AC_joint_XY=30637;gnomADv4_1_AF_grpmax_joint=0.996053;gnomADv4_1_AF_joint=0.906998;gnomADv4_1_AF_joint_XX=0.905792;gnomADv4_1_AF_joint_XY=0.909785;gnomADv4_1_AN_grpmax_joint=52951;gnomADv4_1_AN_joint=111471;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=33675;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=32600;gnomADv4_1_nhomalt_joint_XX=32600;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2807504 chrX_2807504_ACATGTGCACACATCGGTGTGTG_A ACATGTGCACACATCGGTGTGTG A 37 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=37;CADDIndel_PHREDscore=0.474;CADDIndel_Rawscore=-0.206381;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.374-667_374-646del|||||||rs66637712||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG|||13|chrX:g.2807518_2807539del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||6/8|ENST00000419513.7:c.353-667_353-646del|||||||rs66637712||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG|||13|chrX:g.2807518_2807539del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.308-667_308-646del|||||||rs66637712||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG|||13|chrX:g.2807518_2807539del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.121-667_121-646del|||||||rs66637712||1||HGNC|HGNC:12806|3||||||||Ensembl||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG|||13|chrX:g.2807518_2807539del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||8/10|ENST00000644266.2:c.419-667_419-646del|||||||rs66637712||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG|||13|chrX:g.2807518_2807539del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs66637712|2076|-1||||||||||||Ensembl||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG||||chrX:g.2807518_2807539del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs66637712|2076|-1||||||||||||Ensembl||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG||||chrX:g.2807518_2807539del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs66637712|2076|-1||||||||||||Ensembl||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG||||chrX:g.2807518_2807539del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs66637712|2078|-1||||||||||||Ensembl||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG||||chrX:g.2807518_2807539del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs66637712|2072|-1||||||||||||Ensembl||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG||||chrX:g.2807518_2807539del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs66637712|2072|-1||||||||||||Ensembl||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG||||chrX:g.2807518_2807539del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs66637712|3584|-1||||||||||||Ensembl||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG||||chrX:g.2807518_2807539del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs66637712|3583|-1||||||||||||Ensembl||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG||||chrX:g.2807518_2807539del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs66637712|3613|-1||||||||||||Ensembl||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG||||chrX:g.2807518_2807539del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||8/10|NM_001141919.2:c.419-667_419-646del|||||||rs66637712||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG|||13|chrX:g.2807518_2807539del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.377-667_377-646del|||||||rs66637712||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG|||13|chrX:g.2807518_2807539del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.374-667_374-646del|||||||rs66637712||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG|||13|chrX:g.2807518_2807539del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||8/10|XM_005274587.5:c.422-667_422-646del|||||||rs66637712||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG|||13|chrX:g.2807518_2807539del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-6846_377-6825del|||||||rs66637712||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG|||13|chrX:g.2807518_2807539del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||7/9|XM_017029787.3:c.380-667_380-646del|||||||rs66637712||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||CATGTGCACACATCGGTGTGTG|CATGTGCACACATCGGTGTGTG|||13|chrX:g.2807518_2807539del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810824,ENST00000810825,ENST00000810826,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=100915;gnomADv4_1_AC_joint_XX=70414;gnomADv4_1_AC_joint_XY=30501;gnomADv4_1_AF_grpmax_joint=0.995803;gnomADv4_1_AF_joint=0.90658;gnomADv4_1_AF_joint_XX=0.90553;gnomADv4_1_AF_joint_XY=0.909012;gnomADv4_1_AN_grpmax_joint=52889;gnomADv4_1_AN_joint=111314;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=33554;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=32567;gnomADv4_1_nhomalt_joint_XX=32567;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2807619 chrX_2807619_T_G T G 43 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=43;CADD_PHREDscore=0.127;CADD_Rawscore=-0.547746;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.374-566T>G|||||||rs5939335||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2807619T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||6/8|ENST00000419513.7:c.353-566T>G|||||||rs5939335||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2807619T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.308-566T>G|||||||rs5939335||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2807619T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.121-566T>G|||||||rs5939335||1||HGNC|HGNC:12806|3||||||||Ensembl||T|T||||chrX:g.2807619T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||8/10|ENST00000644266.2:c.419-566T>G|||||||rs5939335||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2807619T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs5939335|1983|-1||||||||||||Ensembl||T|T||||chrX:g.2807619T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs5939335|1983|-1||||||||||||Ensembl||T|T||||chrX:g.2807619T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs5939335|1983|-1||||||||||||Ensembl||T|T||||chrX:g.2807619T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs5939335|1985|-1||||||||||||Ensembl||T|T||||chrX:g.2807619T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs5939335|1979|-1||||||||||||Ensembl||T|T||||chrX:g.2807619T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs5939335|1979|-1||||||||||||Ensembl||T|T||||chrX:g.2807619T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs5939335|3491|-1||||||||||||Ensembl||T|T||||chrX:g.2807619T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs5939335|3490|-1||||||||||||Ensembl||T|T||||chrX:g.2807619T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs5939335|3520|-1||||||||||||Ensembl||T|T||||chrX:g.2807619T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||8/10|NM_001141919.2:c.419-566T>G|||||||rs5939335||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2807619T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.377-566T>G|||||||rs5939335||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2807619T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.374-566T>G|||||||rs5939335||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2807619T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||8/10|XM_005274587.5:c.422-566T>G|||||||rs5939335||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2807619T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-6745T>G|||||||rs5939335||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2807619T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||7/9|XM_017029787.3:c.380-566T>G|||||||rs5939335||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2807619T>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|1|-12|-27|-2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810824,ENST00000810825,ENST00000810826,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87227;gnomADv4_1_AC_joint_XX=60741;gnomADv4_1_AC_joint_XY=26486;gnomADv4_1_AF_grpmax_joint=0.948548;gnomADv4_1_AF_joint=0.781954;gnomADv4_1_AF_joint_XX=0.780974;gnomADv4_1_AF_joint_XY=0.784213;gnomADv4_1_AN_grpmax_joint=52962;gnomADv4_1_AN_joint=111550;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=33774;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25774;gnomADv4_1_nhomalt_joint_XX=25774;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2807750 chrX_2807750_T_G T G 51 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=0.635;CADD_Rawscore=-0.133206;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.374-435T>G|||||||rs12689739||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2807750T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||6/8|ENST00000419513.7:c.353-435T>G|||||||rs12689739||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2807750T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.308-435T>G|||||||rs12689739||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2807750T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.121-435T>G|||||||rs12689739||1||HGNC|HGNC:12806|3||||||||Ensembl||T|T||||chrX:g.2807750T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||8/10|ENST00000644266.2:c.419-435T>G|||||||rs12689739||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2807750T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs12689739|1852|-1||||||||||||Ensembl||T|T||||chrX:g.2807750T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs12689739|1852|-1||||||||||||Ensembl||T|T||||chrX:g.2807750T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs12689739|1852|-1||||||||||||Ensembl||T|T||||chrX:g.2807750T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs12689739|1854|-1||||||||||||Ensembl||T|T||||chrX:g.2807750T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs12689739|1848|-1||||||||||||Ensembl||T|T||||chrX:g.2807750T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs12689739|1848|-1||||||||||||Ensembl||T|T||||chrX:g.2807750T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs12689739|3360|-1||||||||||||Ensembl||T|T||||chrX:g.2807750T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs12689739|3359|-1||||||||||||Ensembl||T|T||||chrX:g.2807750T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs12689739|3389|-1||||||||||||Ensembl||T|T||||chrX:g.2807750T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||8/10|NM_001141919.2:c.419-435T>G|||||||rs12689739||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2807750T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.377-435T>G|||||||rs12689739||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2807750T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.374-435T>G|||||||rs12689739||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2807750T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||8/10|XM_005274587.5:c.422-435T>G|||||||rs12689739||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2807750T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-6614T>G|||||||rs12689739||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2807750T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||7/9|XM_017029787.3:c.380-435T>G|||||||rs12689739||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2807750T>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|29|-9|39|-2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810824,ENST00000810825,ENST00000810826,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=100494;gnomADv4_1_AC_joint_XX=70277;gnomADv4_1_AC_joint_XY=30217;gnomADv4_1_AF_grpmax_joint=0.995977;gnomADv4_1_AF_joint=0.904862;gnomADv4_1_AF_joint_XX=0.903396;gnomADv4_1_AF_joint_XY=0.90829;gnomADv4_1_AN_grpmax_joint=52952;gnomADv4_1_AN_joint=111060;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=33268;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=32473;gnomADv4_1_nhomalt_joint_XX=32473;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2807842 chrX_2807842_T_C T C 50 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=0.899;CADD_Rawscore=-0.04536;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||7/9|ENST00000381174.10:c.374-343T>C|||||||rs6642025||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2807842T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||6/8|ENST00000419513.7:c.353-343T>C|||||||rs6642025||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2807842T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||5/7|ENST00000509484.3:c.308-343T>C|||||||rs6642025||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2807842T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||2/2|ENST00000519244.1:n.121-343T>C|||||||rs6642025||1||HGNC|HGNC:12806|3||||||||Ensembl||T|T||||chrX:g.2807842T>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||8/10|ENST00000644266.2:c.419-343T>C|||||||rs6642025||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2807842T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs6642025|1760|-1||||||||||||Ensembl||T|T||||chrX:g.2807842T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs6642025|1760|-1||||||||||||Ensembl||T|T||||chrX:g.2807842T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs6642025|1760|-1||||||||||||Ensembl||T|T||||chrX:g.2807842T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs6642025|1762|-1||||||||||||Ensembl||T|T||||chrX:g.2807842T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs6642025|1756|-1||||||||||||Ensembl||T|T||||chrX:g.2807842T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs6642025|1756|-1||||||||||||Ensembl||T|T||||chrX:g.2807842T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs6642025|3268|-1||||||||||||Ensembl||T|T||||chrX:g.2807842T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs6642025|3267|-1||||||||||||Ensembl||T|T||||chrX:g.2807842T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs6642025|3297|-1||||||||||||Ensembl||T|T||||chrX:g.2807842T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||8/10|NM_001141919.2:c.419-343T>C|||||||rs6642025||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2807842T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||7/9|NM_001141920.2:c.377-343T>C|||||||rs6642025||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2807842T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||7/9|NM_175569.3:c.374-343T>C|||||||rs6642025||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2807842T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||8/10|XM_005274587.5:c.422-343T>C|||||||rs6642025||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2807842T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-6522T>C|||||||rs6642025||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2807842T>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||7/9|XM_017029787.3:c.380-343T>C|||||||rs6642025||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2807842T>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-36|-19|15|-25;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810824,ENST00000810825,ENST00000810826,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=105137;gnomADv4_1_AC_joint_XX=73776;gnomADv4_1_AC_joint_XY=31361;gnomADv4_1_AF_grpmax_joint=0.996903;gnomADv4_1_AF_joint=0.94871;gnomADv4_1_AF_joint_XX=0.948253;gnomADv4_1_AF_joint_XY=0.949786;gnomADv4_1_AN_grpmax_joint=52953;gnomADv4_1_AN_joint=110821;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=33019;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=35189;gnomADv4_1_nhomalt_joint_XX=35189;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2808355 chrX_2808355_A_G A G 58 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=0.364;CADD_Rawscore=-0.273208;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||8/9|ENST00000381174.10:c.409+135A>G|||||||rs6567645||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2808355A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||7/8|ENST00000419513.7:c.388+135A>G|||||||rs6567645||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2808355A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||6/7|ENST00000509484.3:c.343+135A>G|||||||rs6567645||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2808355A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron|3/3||ENST00000519244.1:n.291A>G||291|||||rs6567645||1||HGNC|HGNC:12806|3||||||||Ensembl||A|A||||chrX:g.2808355A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||9/10|ENST00000644266.2:c.454+135A>G|||||||rs6567645||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2808355A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs6567645|1247|-1||||||||||||Ensembl||A|A||||chrX:g.2808355A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs6567645|1247|-1||||||||||||Ensembl||A|A||||chrX:g.2808355A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs6567645|1247|-1||||||||||||Ensembl||A|A||||chrX:g.2808355A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs6567645|1249|-1||||||||||||Ensembl||A|A||||chrX:g.2808355A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs6567645|1243|-1||||||||||||Ensembl||A|A||||chrX:g.2808355A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs6567645|1243|-1||||||||||||Ensembl||A|A||||chrX:g.2808355A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs6567645|2755|-1||||||||||||Ensembl||A|A||||chrX:g.2808355A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs6567645|2754|-1||||||||||||Ensembl||A|A||||chrX:g.2808355A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs6567645|2784|-1||||||||||||Ensembl||A|A||||chrX:g.2808355A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||9/10|NM_001141919.2:c.454+135A>G|||||||rs6567645||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2808355A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||8/9|NM_001141920.2:c.412+135A>G|||||||rs6567645||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2808355A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||8/9|NM_175569.3:c.409+135A>G|||||||rs6567645||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2808355A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||9/10|XM_005274587.5:c.457+135A>G|||||||rs6567645||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2808355A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-6009A>G|||||||rs6567645||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2808355A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||8/9|XM_017029787.3:c.415+135A>G|||||||rs6567645||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2808355A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|40|4|-5|-11;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810824,ENST00000810825,ENST00000810826,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=883471;gnomADv4_1_AC_joint_XX=635927;gnomADv4_1_AC_joint_XY=247544;gnomADv4_1_AF_grpmax_joint=0.997862;gnomADv4_1_AF_joint=0.985675;gnomADv4_1_AF_joint_XX=0.985267;gnomADv4_1_AF_joint_XY=0.986722;gnomADv4_1_AN_grpmax_joint=632505;gnomADv4_1_AN_joint=896311;gnomADv4_1_AN_joint_XX=645436;gnomADv4_1_AN_joint_XY=250875;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=313761;gnomADv4_1_nhomalt_joint_XX=313761;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2808606 chrX_2808606_T_G T G 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=3.877;CADD_Rawscore=0.354329;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||8/9|ENST00000381174.10:c.409+386T>G|||||||rs5939122||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2808606T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||7/8|ENST00000419513.7:c.388+386T>G|||||||rs5939122||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2808606T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||6/7|ENST00000509484.3:c.343+386T>G|||||||rs5939122||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2808606T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs5939122|229|1||HGNC|HGNC:12806|3||||||||Ensembl||T|T||||chrX:g.2808606T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||9/10|ENST00000644266.2:c.454+386T>G|||||||rs5939122||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2808606T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs5939122|996|-1||||||||||||Ensembl||T|T||||chrX:g.2808606T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs5939122|996|-1||||||||||||Ensembl||T|T||||chrX:g.2808606T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs5939122|996|-1||||||||||||Ensembl||T|T||||chrX:g.2808606T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs5939122|998|-1||||||||||||Ensembl||T|T||||chrX:g.2808606T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs5939122|992|-1||||||||||||Ensembl||T|T||||chrX:g.2808606T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs5939122|992|-1||||||||||||Ensembl||T|T||||chrX:g.2808606T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs5939122|2504|-1||||||||||||Ensembl||T|T||||chrX:g.2808606T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs5939122|2503|-1||||||||||||Ensembl||T|T||||chrX:g.2808606T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs5939122|2533|-1||||||||||||Ensembl||T|T||||chrX:g.2808606T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||9/10|NM_001141919.2:c.454+386T>G|||||||rs5939122||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2808606T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||8/9|NM_001141920.2:c.412+386T>G|||||||rs5939122||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2808606T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||8/9|NM_175569.3:c.409+386T>G|||||||rs5939122||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2808606T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||9/10|XM_005274587.5:c.457+386T>G|||||||rs5939122||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2808606T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-5758T>G|||||||rs5939122||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2808606T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||8/9|XM_017029787.3:c.415+386T>G|||||||rs5939122||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2808606T>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|-43|28|-28|-33;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810824,ENST00000810825,ENST00000810826,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=737784;gnomADv4_1_AC_joint_XX=519230;gnomADv4_1_AC_joint_XY=218554;gnomADv4_1_AF_grpmax_joint=0.998312;gnomADv4_1_AF_joint=0.987751;gnomADv4_1_AF_joint_XX=0.987441;gnomADv4_1_AF_joint_XY=0.988489;gnomADv4_1_AN_grpmax_joint=635028;gnomADv4_1_AN_joint=746933;gnomADv4_1_AN_joint_XX=525834;gnomADv4_1_AN_joint_XY=221099;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=256760;gnomADv4_1_nhomalt_joint_XX=256760;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2809893 chrX_2809893_T_G T G 58 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=0.621;CADD_Rawscore=-0.139063;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||8/9|ENST00000381174.10:c.410-1443T>G|||||||rs5939123||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2809893T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||7/8|ENST00000419513.7:c.389-1443T>G|||||||rs5939123||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2809893T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||6/7|ENST00000509484.3:c.344-1443T>G|||||||rs5939123||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2809893T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs5939123|1516|1||HGNC|HGNC:12806|3||||||||Ensembl||T|T||||chrX:g.2809893T>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||9/10|ENST00000644266.2:c.455-1443T>G|||||||rs5939123||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2809893T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA|3/3||ENST00000810817.1:n.818A>C||818|||||rs5939123||-1||||||||||||Ensembl||T|T||||chrX:g.2809893T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA|3/3||ENST00000810818.1:n.646A>C||646|||||rs5939123||-1||||||||||||Ensembl||T|T||||chrX:g.2809893T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA|2/2||ENST00000810819.1:n.1229A>C||1229|||||rs5939123||-1||||||||||||Ensembl||T|T||||chrX:g.2809893T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA|2/2||ENST00000810820.1:n.522A>C||522|||||rs5939123||-1||||||||||||Ensembl||T|T||||chrX:g.2809893T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA|3/3||ENST00000810821.1:n.668A>C||668|||||rs5939123||-1||||||||||||Ensembl||T|T||||chrX:g.2809893T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA|4/4||ENST00000810822.1:n.653A>C||653|||||rs5939123||-1||||||||||||Ensembl||T|T||||chrX:g.2809893T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs5939123|1217|-1||||||||||||Ensembl||T|T||||chrX:g.2809893T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs5939123|1216|-1||||||||||||Ensembl||T|T||||chrX:g.2809893T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs5939123|1246|-1||||||||||||Ensembl||T|T||||chrX:g.2809893T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs5939123|3799|-1||||||||||||Ensembl||T|T||||chrX:g.2809893T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||9/10|NM_001141919.2:c.455-1443T>G|||||||rs5939123||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2809893T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||8/9|NM_001141920.2:c.413-1443T>G|||||||rs5939123||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2809893T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||8/9|NM_175569.3:c.410-1443T>G|||||||rs5939123||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2809893T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||9/10|XM_005274587.5:c.458-1443T>G|||||||rs5939123||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2809893T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-4471T>G|||||||rs5939123||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2809893T>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||8/9|XM_017029787.3:c.416-1443T>G|||||||rs5939123||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2809893T>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|1|-25|-38|-25;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810828,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=103981;gnomADv4_1_AC_joint_XX=72673;gnomADv4_1_AC_joint_XY=31308;gnomADv4_1_AF_grpmax_joint=0.996628;gnomADv4_1_AF_joint=0.934913;gnomADv4_1_AF_joint_XX=0.93386;gnomADv4_1_AF_joint_XY=0.937365;gnomADv4_1_AN_grpmax_joint=53084;gnomADv4_1_AN_joint=111220;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=33400;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=34269;gnomADv4_1_nhomalt_joint_XX=34269;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2810180 chrX_2810180_A_C A C 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=0.022;CADD_Rawscore=-1.03227;CSQ=C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||8/9|ENST00000381174.10:c.410-1156A>C|||||||rs6567647||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2810180A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||7/8|ENST00000419513.7:c.389-1156A>C|||||||rs6567647||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2810180A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||6/7|ENST00000509484.3:c.344-1156A>C|||||||rs6567647||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2810180A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs6567647|1803|1||HGNC|HGNC:12806|3||||||||Ensembl||A|A||||chrX:g.2810180A>C|||||||||||||,C|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||9/10|ENST00000644266.2:c.455-1156A>C|||||||rs6567647||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2810180A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA|3/3||ENST00000810817.1:n.531T>G||531|||||rs6567647||-1||||||||||||Ensembl||A|A||||chrX:g.2810180A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA|3/3||ENST00000810818.1:n.359T>G||359|||||rs6567647||-1||||||||||||Ensembl||A|A||||chrX:g.2810180A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA|2/2||ENST00000810819.1:n.942T>G||942|||||rs6567647||-1||||||||||||Ensembl||A|A||||chrX:g.2810180A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA|2/2||ENST00000810820.1:n.235T>G||235|||||rs6567647||-1||||||||||||Ensembl||A|A||||chrX:g.2810180A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA|3/3||ENST00000810821.1:n.381T>G||381|||||rs6567647||-1||||||||||||Ensembl||A|A||||chrX:g.2810180A>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA|4/4||ENST00000810822.1:n.366T>G||366|||||rs6567647||-1||||||||||||Ensembl||A|A||||chrX:g.2810180A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs6567647|930|-1||||||||||||Ensembl||A|A||||chrX:g.2810180A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs6567647|929|-1||||||||||||Ensembl||A|A||||chrX:g.2810180A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs6567647|959|-1||||||||||||Ensembl||A|A||||chrX:g.2810180A>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs6567647|3512|-1||||||||||||Ensembl||A|A||||chrX:g.2810180A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||9/10|NM_001141919.2:c.455-1156A>C|||||||rs6567647||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2810180A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||8/9|NM_001141920.2:c.413-1156A>C|||||||rs6567647||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2810180A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||8/9|NM_175569.3:c.410-1156A>C|||||||rs6567647||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2810180A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||9/10|XM_005274587.5:c.458-1156A>C|||||||rs6567647||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2810180A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-4184A>C|||||||rs6567647||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2810180A>C|||||||||||||,C|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||8/9|XM_017029787.3:c.416-1156A>C|||||||rs6567647||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2810180A>C|||||||||||||;SpliceAI=C|XG|0.00|0.00|0.00|0.00|-42|24|23|-27;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810828,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=100048;gnomADv4_1_AC_joint_XX=70203;gnomADv4_1_AC_joint_XY=29845;gnomADv4_1_AF_grpmax_joint=0.944593;gnomADv4_1_AF_joint=0.901992;gnomADv4_1_AF_joint_XX=0.902074;gnomADv4_1_AF_joint_XY=0.901798;gnomADv4_1_AN_grpmax_joint=10468;gnomADv4_1_AN_joint=110919;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=33095;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=31793;gnomADv4_1_nhomalt_joint_XX=31793;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2810599 chrX_2810599_G_A G A 48 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=0.956;CADD_Rawscore=-0.029359;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||8/9|ENST00000381174.10:c.410-737G>A|||||||rs182761636||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||7/8|ENST00000419513.7:c.389-737G>A|||||||rs182761636||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||6/7|ENST00000509484.3:c.344-737G>A|||||||rs182761636||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs182761636|2222|1||HGNC|HGNC:12806|3||||||||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||9/10|ENST00000644266.2:c.455-737G>A|||||||rs182761636||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||2/2|ENST00000810817.1:n.494-382C>T|||||||rs182761636||-1||||||||||||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.322-382C>T|||||||rs182761636||-1||||||||||||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA|2/2||ENST00000810819.1:n.523C>T||523|||||rs182761636||-1||||||||||||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-382C>T|||||||rs182761636||-1||||||||||||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||2/2|ENST00000810821.1:n.344-382C>T|||||||rs182761636||-1||||||||||||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||3/3|ENST00000810822.1:n.329-382C>T|||||||rs182761636||-1||||||||||||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs182761636|4945|-1||||||||||||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs182761636|511|-1||||||||||||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs182761636|510|-1||||||||||||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs182761636|540|-1||||||||||||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs182761636|3093|-1||||||||||||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs182761636|4946|-1||||||||||||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs182761636|4942|-1||||||||||||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs182761636|4944|-1||||||||||||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs182761636|4942|-1||||||||||||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs182761636|4947|-1||||||||||||Ensembl||G|G||||chrX:g.2810599G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||9/10|NM_001141919.2:c.455-737G>A|||||||rs182761636||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2810599G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||8/9|NM_001141920.2:c.413-737G>A|||||||rs182761636||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2810599G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||8/9|NM_175569.3:c.410-737G>A|||||||rs182761636||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2810599G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||9/10|XM_005274587.5:c.458-737G>A|||||||rs182761636||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2810599G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-3765G>A|||||||rs182761636||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2810599G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||8/9|XM_017029787.3:c.416-737G>A|||||||rs182761636||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2810599G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|4|-14|4|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=505;gnomADv4_1_AC_joint_XX=349;gnomADv4_1_AC_joint_XY=156;gnomADv4_1_AF_grpmax_joint=0.00632195;gnomADv4_1_AF_joint=0.00454137;gnomADv4_1_AF_joint_XX=0.00448909;gnomADv4_1_AF_joint_XY=0.00466284;gnomADv4_1_AN_grpmax_joint=52990;gnomADv4_1_AN_joint=111200;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=33456;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2810928 chrX_2810928_GAAAT_G GAAAT G 48 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADDIndel_PHREDscore=0.758;CADDIndel_Rawscore=-0.088811;CSQ=-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||8/9|ENST00000381174.10:c.410-384_410-381del|||||||rs146387414||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||AAAT|AAAT|||23|chrX:g.2810952_2810955del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||7/8|ENST00000419513.7:c.389-384_389-381del|||||||rs146387414||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||AAAT|AAAT|||23|chrX:g.2810952_2810955del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||6/7|ENST00000509484.3:c.344-384_344-381del|||||||rs146387414||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||AAAT|AAAT|||23|chrX:g.2810952_2810955del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs146387414|2552|1||HGNC|HGNC:12806|3||||||||Ensembl||AAAT|AAAT||||chrX:g.2810952_2810955del|||||||||||||,-|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||9/10|ENST00000644266.2:c.455-384_455-381del|||||||rs146387414||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||AAAT|AAAT|||23|chrX:g.2810952_2810955del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||2/2|ENST00000810817.1:n.494-715_494-712del|||||||rs146387414||-1||||||||||||Ensembl||AAAT|AAAT||||chrX:g.2810952_2810955del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.322-715_322-712del|||||||rs146387414||-1||||||||||||Ensembl||AAAT|AAAT||||chrX:g.2810952_2810955del|||||||||||||,-|splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-20_210-17del|||||||rs146387414||-1||||||||||||Ensembl||AAAT|AAAT||||chrX:g.2810952_2810955del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-715_198-712del|||||||rs146387414||-1||||||||||||Ensembl||AAAT|AAAT||||chrX:g.2810952_2810955del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||2/2|ENST00000810821.1:n.344-715_344-712del|||||||rs146387414||-1||||||||||||Ensembl||AAAT|AAAT||||chrX:g.2810952_2810955del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||3/3|ENST00000810822.1:n.329-715_329-712del|||||||rs146387414||-1||||||||||||Ensembl||AAAT|AAAT||||chrX:g.2810952_2810955del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs146387414|4612|-1||||||||||||Ensembl||AAAT|AAAT||||chrX:g.2810952_2810955del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs146387414|178|-1||||||||||||Ensembl||AAAT|AAAT||||chrX:g.2810952_2810955del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs146387414|177|-1||||||||||||Ensembl||AAAT|AAAT||||chrX:g.2810952_2810955del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs146387414|207|-1||||||||||||Ensembl||AAAT|AAAT||||chrX:g.2810952_2810955del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs146387414|2760|-1||||||||||||Ensembl||AAAT|AAAT||||chrX:g.2810952_2810955del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs146387414|4613|-1||||||||||||Ensembl||AAAT|AAAT||||chrX:g.2810952_2810955del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs146387414|4609|-1||||||||||||Ensembl||AAAT|AAAT||||chrX:g.2810952_2810955del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs146387414|4611|-1||||||||||||Ensembl||AAAT|AAAT||||chrX:g.2810952_2810955del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs146387414|4609|-1||||||||||||Ensembl||AAAT|AAAT||||chrX:g.2810952_2810955del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs146387414|4614|-1||||||||||||Ensembl||AAAT|AAAT||||chrX:g.2810952_2810955del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||9/10|NM_001141919.2:c.455-384_455-381del|||||||rs146387414||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||AAAT|AAAT|||23|chrX:g.2810952_2810955del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||8/9|NM_001141920.2:c.413-384_413-381del|||||||rs146387414||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||AAAT|AAAT|||23|chrX:g.2810952_2810955del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||8/9|NM_175569.3:c.410-384_410-381del|||||||rs146387414||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||AAAT|AAAT|||23|chrX:g.2810952_2810955del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||9/10|XM_005274587.5:c.458-384_458-381del|||||||rs146387414||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||AAAT|AAAT|||23|chrX:g.2810952_2810955del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-3412_377-3409del|||||||rs146387414||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||AAAT|AAAT|||23|chrX:g.2810952_2810955del|||||||||||||,-|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||8/9|XM_017029787.3:c.416-384_416-381del|||||||rs146387414||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||AAAT|AAAT|||23|chrX:g.2810952_2810955del|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|-40|-28|-40|-8;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53949;gnomADv4_1_AC_joint_XX=41298;gnomADv4_1_AC_joint_XY=12651;gnomADv4_1_AF_grpmax_joint=0.673238;gnomADv4_1_AF_joint=0.534551;gnomADv4_1_AF_joint_XX=0.545462;gnomADv4_1_AF_joint_XY=0.501785;gnomADv4_1_AN_grpmax_joint=50318;gnomADv4_1_AN_joint=100924;gnomADv4_1_AN_joint_XX=75712;gnomADv4_1_AN_joint_XY=25212;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=12308;gnomADv4_1_nhomalt_joint_XX=12308;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2811240 chrX_2811240_A_G A G 58 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=3.633;CADD_Rawscore=0.332596;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||8/9|ENST00000381174.10:c.410-96A>G|||||||rs5939336||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||7/8|ENST00000419513.7:c.389-96A>G|||||||rs5939336||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||6/7|ENST00000509484.3:c.344-96A>G|||||||rs5939336||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs5939336|2863|1||HGNC|HGNC:12806|3||||||||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||9/10|ENST00000644266.2:c.455-96A>G|||||||rs5939336||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||2/2|ENST00000810817.1:n.494-1023T>C|||||||rs5939336||-1||||||||||||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.322-1023T>C|||||||rs5939336||-1||||||||||||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-328T>C|||||||rs5939336||-1||||||||||||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-1023T>C|||||||rs5939336||-1||||||||||||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||2/2|ENST00000810821.1:n.344-1023T>C|||||||rs5939336||-1||||||||||||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||3/3|ENST00000810822.1:n.329-1023T>C|||||||rs5939336||-1||||||||||||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs5939336|4304|-1||||||||||||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA|2/2||ENST00000810824.1:n.380T>C||380|||||rs5939336||-1||||||||||||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA|3/3||ENST00000810825.1:n.463T>C||463|||||rs5939336||-1||||||||||||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA|4/4||ENST00000810826.1:n.620T>C||620|||||rs5939336||-1||||||||||||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs5939336|2452|-1||||||||||||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs5939336|4305|-1||||||||||||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs5939336|4301|-1||||||||||||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs5939336|4303|-1||||||||||||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs5939336|4301|-1||||||||||||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs5939336|4306|-1||||||||||||Ensembl||A|A||||chrX:g.2811240A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||9/10|NM_001141919.2:c.455-96A>G|||||||rs5939336||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2811240A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||8/9|NM_001141920.2:c.413-96A>G|||||||rs5939336||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2811240A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||8/9|NM_175569.3:c.410-96A>G|||||||rs5939336||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2811240A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||9/10|XM_005274587.5:c.458-96A>G|||||||rs5939336||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2811240A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-3124A>G|||||||rs5939336||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2811240A>G|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||8/9|XM_017029787.3:c.416-96A>G|||||||rs5939336||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2811240A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|1|39|-6|-37;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=383018;gnomADv4_1_AC_joint_XX=280317;gnomADv4_1_AC_joint_XY=102701;gnomADv4_1_AF_grpmax_joint=0.681381;gnomADv4_1_AF_joint=0.612969;gnomADv4_1_AF_joint_XX=0.611821;gnomADv4_1_AF_joint_XY=0.616123;gnomADv4_1_AN_grpmax_joint=408862;gnomADv4_1_AN_joint=624857;gnomADv4_1_AN_joint_XX=458168;gnomADv4_1_AN_joint_XY=166689;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=89772;gnomADv4_1_nhomalt_joint_XX=89772;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2811499 chrX_2811499_T_TA T TA 51 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADDIndel_PHREDscore=0.179;CADDIndel_Rawscore=-0.455524;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||9/9|ENST00000381174.10:c.526+58dup|||||||rs11439714||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||11|chrX:g.2811510dup|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||8/8|ENST00000419513.7:c.505+58dup|||||||rs11439714||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||11|chrX:g.2811510dup|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||7/7|ENST00000509484.3:c.460+58dup|||||||rs11439714||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||11|chrX:g.2811510dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs11439714|3122|1||HGNC|HGNC:12806|3||||||||Ensembl|||||||chrX:g.2811510dup|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||10/10|ENST00000644266.2:c.571+58dup|||||||rs11439714||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||11|chrX:g.2811510dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||2/2|ENST00000810817.1:n.494-1283dup|||||||rs11439714||-1||||||||||||Ensembl|||||||chrX:g.2811510dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.322-1283dup|||||||rs11439714||-1||||||||||||Ensembl|||||||chrX:g.2811510dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-588dup|||||||rs11439714||-1||||||||||||Ensembl|||||||chrX:g.2811510dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-1283dup|||||||rs11439714||-1||||||||||||Ensembl|||||||chrX:g.2811510dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||2/2|ENST00000810821.1:n.344-1283dup|||||||rs11439714||-1||||||||||||Ensembl|||||||chrX:g.2811510dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||3/3|ENST00000810822.1:n.329-1283dup|||||||rs11439714||-1||||||||||||Ensembl|||||||chrX:g.2811510dup|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs11439714|4044|-1||||||||||||Ensembl|||||||chrX:g.2811510dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-82dup|||||||rs11439714||-1||||||||||||Ensembl|||||||chrX:g.2811510dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.285-82dup|||||||rs11439714||-1||||||||||||Ensembl|||||||chrX:g.2811510dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||3/3|ENST00000810826.1:n.442-82dup|||||||rs11439714||-1||||||||||||Ensembl|||||||chrX:g.2811510dup|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs11439714|2192|-1||||||||||||Ensembl|||||||chrX:g.2811510dup|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs11439714|4045|-1||||||||||||Ensembl|||||||chrX:g.2811510dup|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs11439714|4041|-1||||||||||||Ensembl|||||||chrX:g.2811510dup|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs11439714|4043|-1||||||||||||Ensembl|||||||chrX:g.2811510dup|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs11439714|4041|-1||||||||||||Ensembl|||||||chrX:g.2811510dup|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs11439714|4046|-1||||||||||||Ensembl|||||||chrX:g.2811510dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||10/10|NM_001141919.2:c.571+58dup|||||||rs11439714||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||11|chrX:g.2811510dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||9/9|NM_001141920.2:c.529+58dup|||||||rs11439714||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||11|chrX:g.2811510dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||9/9|NM_175569.3:c.526+58dup|||||||rs11439714||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||11|chrX:g.2811510dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||10/10|XM_005274587.5:c.574+58dup|||||||rs11439714||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||11|chrX:g.2811510dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-2854dup|||||||rs11439714||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||11|chrX:g.2811510dup|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||9/9|XM_017029787.3:c.532+58dup|||||||rs11439714||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||11|chrX:g.2811510dup|||||||||||||;SpliceAI=TA|XG|0.00|0.00|0.00|0.00|22|39|-47|-43;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=421952;gnomADv4_1_AC_joint_XX=331878;gnomADv4_1_AC_joint_XY=90074;gnomADv4_1_AF_grpmax_joint=0.779022;gnomADv4_1_AF_joint=0.705821;gnomADv4_1_AF_joint_XX=0.688426;gnomADv4_1_AF_joint_XY=0.778278;gnomADv4_1_AN_grpmax_joint=2679;gnomADv4_1_AN_joint=597817;gnomADv4_1_AN_joint_XX=482082;gnomADv4_1_AN_joint_XY=115735;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=101353;gnomADv4_1_nhomalt_joint_XX=101353;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2812078 chrX_2812078_A_AG A AG 48 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADDIndel_PHREDscore=0.548;CADDIndel_Rawscore=-0.170308;CSQ=G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||9/9|ENST00000381174.10:c.526+626_526+627insG|||||||rs368401840||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||8/8|ENST00000419513.7:c.505+626_505+627insG|||||||rs368401840||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||7/7|ENST00000509484.3:c.460+626_460+627insG|||||||rs368401840||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs368401840|3701|1||HGNC|HGNC:12806|3||||||||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||10/10|ENST00000644266.2:c.571+626_571+627insG|||||||rs368401840||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||2/2|ENST00000810817.1:n.494-1862_494-1861insC|||||||rs368401840||-1||||||||||||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.322-1862_322-1861insC|||||||rs368401840||-1||||||||||||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-1167_210-1166insC|||||||rs368401840||-1||||||||||||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-1862_198-1861insC|||||||rs368401840||-1||||||||||||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||2/2|ENST00000810821.1:n.344-1862_344-1861insC|||||||rs368401840||-1||||||||||||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||3/3|ENST00000810822.1:n.329-1862_329-1861insC|||||||rs368401840||-1||||||||||||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs368401840|3465|-1||||||||||||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-661_202-660insC|||||||rs368401840||-1||||||||||||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.285-661_285-660insC|||||||rs368401840||-1||||||||||||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||3/3|ENST00000810826.1:n.442-661_442-660insC|||||||rs368401840||-1||||||||||||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs368401840|1613|-1||||||||||||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs368401840|3466|-1||||||||||||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs368401840|3462|-1||||||||||||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs368401840|3464|-1||||||||||||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs368401840|3462|-1||||||||||||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs368401840|3467|-1||||||||||||Ensembl|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||10/10|NM_001141919.2:c.571+626_571+627insG|||||||rs368401840||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||9/9|NM_001141920.2:c.529+626_529+627insG|||||||rs368401840||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||9/9|NM_175569.3:c.526+626_526+627insG|||||||rs368401840||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||10/10|XM_005274587.5:c.574+626_574+627insG|||||||rs368401840||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-2286_377-2285insG|||||||rs368401840||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq|||||||chrX:g.2812078_2812079insG|||||||||||||,G|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||9/9|XM_017029787.3:c.532+626_532+627insG|||||||rs368401840||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq|||||||chrX:g.2812078_2812079insG|||||||||||||;SpliceAI=AG|XG|0.00|0.00|0.00|0.00|1|22|1|38;TYPE=INDEL;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59760;gnomADv4_1_AC_joint_XX=42633;gnomADv4_1_AC_joint_XY=17127;gnomADv4_1_AF_grpmax_joint=0.688563;gnomADv4_1_AF_joint=0.542223;gnomADv4_1_AF_joint_XX=0.5488;gnomADv4_1_AF_joint_XY=0.526515;gnomADv4_1_AN_grpmax_joint=52643;gnomADv4_1_AN_joint=110213;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=32529;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=12897;gnomADv4_1_nhomalt_joint_XX=12897;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2812079 chrX_2812079_C_CCAAATATAGTT C CCAAATATAGTT 50 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADDIndel_PHREDscore=0.512;CADDIndel_Rawscore=-0.187297;CSQ=CAAATATAGTT|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||9/9|ENST00000381174.10:c.526+628_526+629insAAATATAGTTC|||||||rs77981807||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||1|chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||8/8|ENST00000419513.7:c.505+628_505+629insAAATATAGTTC|||||||rs77981807||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||1|chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||7/7|ENST00000509484.3:c.460+628_460+629insAAATATAGTTC|||||||rs77981807||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||1|chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs77981807|3702|1||HGNC|HGNC:12806|3||||||||Ensembl|||||||chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||10/10|ENST00000644266.2:c.571+628_571+629insAAATATAGTTC|||||||rs77981807||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||1|chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||2/2|ENST00000810817.1:n.494-1863_494-1862insAACTATATTTG|||||||rs77981807||-1||||||||||||Ensembl|||||||chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.322-1863_322-1862insAACTATATTTG|||||||rs77981807||-1||||||||||||Ensembl|||||||chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-1168_210-1167insAACTATATTTG|||||||rs77981807||-1||||||||||||Ensembl|||||||chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-1863_198-1862insAACTATATTTG|||||||rs77981807||-1||||||||||||Ensembl|||||||chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||2/2|ENST00000810821.1:n.344-1863_344-1862insAACTATATTTG|||||||rs77981807||-1||||||||||||Ensembl|||||||chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||3/3|ENST00000810822.1:n.329-1863_329-1862insAACTATATTTG|||||||rs77981807||-1||||||||||||Ensembl|||||||chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs77981807|3464|-1||||||||||||Ensembl|||||||chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-662_202-661insAACTATATTTG|||||||rs77981807||-1||||||||||||Ensembl|||||||chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.285-662_285-661insAACTATATTTG|||||||rs77981807||-1||||||||||||Ensembl|||||||chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||3/3|ENST00000810826.1:n.442-662_442-661insAACTATATTTG|||||||rs77981807||-1||||||||||||Ensembl|||||||chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs77981807|1612|-1||||||||||||Ensembl|||||||chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs77981807|3465|-1||||||||||||Ensembl|||||||chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs77981807|3461|-1||||||||||||Ensembl|||||||chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs77981807|3463|-1||||||||||||Ensembl|||||||chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs77981807|3461|-1||||||||||||Ensembl|||||||chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs77981807|3466|-1||||||||||||Ensembl|||||||chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||10/10|NM_001141919.2:c.571+628_571+629insAAATATAGTTC|||||||rs77981807||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||1|chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||9/9|NM_001141920.2:c.529+628_529+629insAAATATAGTTC|||||||rs77981807||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||1|chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||9/9|NM_175569.3:c.526+628_526+629insAAATATAGTTC|||||||rs77981807||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||1|chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||10/10|XM_005274587.5:c.574+628_574+629insAAATATAGTTC|||||||rs77981807||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||1|chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-2284_377-2283insAAATATAGTTC|||||||rs77981807||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||1|chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||,CAAATATAGTT|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||9/9|XM_017029787.3:c.532+628_532+629insAAATATAGTTC|||||||rs77981807||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||1|chrX:g.2812080_2812081insAAATATAGTTC|||||||||||||;TYPE=INDEL;VEP_Allele=CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT,CAAATATAGTT;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59812;gnomADv4_1_AC_joint_XX=42633;gnomADv4_1_AC_joint_XY=17179;gnomADv4_1_AF_grpmax_joint=0.688652;gnomADv4_1_AF_joint=0.542193;gnomADv4_1_AF_joint_XX=0.548701;gnomADv4_1_AF_joint_XY=0.526689;gnomADv4_1_AN_grpmax_joint=52671;gnomADv4_1_AN_joint=110315;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=32617;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=12895;gnomADv4_1_nhomalt_joint_XX=12895;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2812248 chrX_2812248_G_A G A 54 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.606;CADD_Rawscore=-0.145185;CSQ=A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||9/9|ENST00000381174.10:c.526+796G>A|||||||rs62582275||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||8/8|ENST00000419513.7:c.505+796G>A|||||||rs62582275||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||7/7|ENST00000509484.3:c.460+796G>A|||||||rs62582275||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000519244|retained_intron||||||||||rs62582275|3871|1||HGNC|HGNC:12806|3||||||||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||10/10|ENST00000644266.2:c.571+796G>A|||||||rs62582275||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||2/2|ENST00000810817.1:n.494-2031C>T|||||||rs62582275||-1||||||||||||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.322-2031C>T|||||||rs62582275||-1||||||||||||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-1336C>T|||||||rs62582275||-1||||||||||||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-2031C>T|||||||rs62582275||-1||||||||||||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||2/2|ENST00000810821.1:n.344-2031C>T|||||||rs62582275||-1||||||||||||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||3/3|ENST00000810822.1:n.329-2031C>T|||||||rs62582275||-1||||||||||||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs62582275|3296|-1||||||||||||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-830C>T|||||||rs62582275||-1||||||||||||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.285-830C>T|||||||rs62582275||-1||||||||||||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||3/3|ENST00000810826.1:n.442-830C>T|||||||rs62582275||-1||||||||||||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs62582275|1444|-1||||||||||||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs62582275|3297|-1||||||||||||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs62582275|3293|-1||||||||||||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs62582275|3295|-1||||||||||||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs62582275|3293|-1||||||||||||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs62582275|3298|-1||||||||||||Ensembl||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||10/10|NM_001141919.2:c.571+796G>A|||||||rs62582275||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||9/9|NM_001141920.2:c.529+796G>A|||||||rs62582275||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||9/9|NM_175569.3:c.526+796G>A|||||||rs62582275||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||10/10|XM_005274587.5:c.574+796G>A|||||||rs62582275||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-2116G>A|||||||rs62582275||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2812248G>A|||||||||||||,A|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||9/9|XM_017029787.3:c.532+796G>A|||||||rs62582275||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2812248G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_BK3W|enhancer||||||||||rs62582275|||||||||||||||||||||chrX:g.2812248G>A|||||||||||||;SpliceAI=A|XG|0.01|0.00|0.00|0.00|-23|-24|-24|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000519244,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3,ENSRX_BK3W;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499,.;VEP_SYMBOL=XG,XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58015;gnomADv4_1_AC_joint_XX=41127;gnomADv4_1_AC_joint_XY=16888;gnomADv4_1_AF_grpmax_joint=0.725199;gnomADv4_1_AF_joint=0.526113;gnomADv4_1_AF_joint_XX=0.529196;gnomADv4_1_AF_joint_XY=0.518753;gnomADv4_1_AN_grpmax_joint=52649;gnomADv4_1_AN_joint=110271;gnomADv4_1_AN_joint_XX=77716;gnomADv4_1_AN_joint_XY=32555;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13330;gnomADv4_1_nhomalt_joint_XX=13330;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2814055 chrX_2814055_C_T C T 57 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=57;CADD_PHREDscore=1.304;CADD_Rawscore=0.051273;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||9/9|ENST00000381174.10:c.527-309C>T|||||||rs5982868||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||8/8|ENST00000419513.7:c.506-309C>T|||||||rs5982868||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||7/7|ENST00000509484.3:c.461-309C>T|||||||rs5982868||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||10/10|ENST00000644266.2:c.572-309C>T|||||||rs5982868||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||2/2|ENST00000810817.1:n.493+1425G>A|||||||rs5982868||-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.322-3838G>A|||||||rs5982868||-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-3143G>A|||||||rs5982868||-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-3838G>A|||||||rs5982868||-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||2/2|ENST00000810821.1:n.343+1526G>A|||||||rs5982868||-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||3/3|ENST00000810822.1:n.328+1526G>A|||||||rs5982868||-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs5982868|1489|-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-2637G>A|||||||rs5982868||-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.285-2637G>A|||||||rs5982868||-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||3/3|ENST00000810826.1:n.441+1526G>A|||||||rs5982868||-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs5982868|3757|-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA|3/3||ENST00000810828.1:n.2235G>A||2235|||||rs5982868||-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs5982868|1490|-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs5982868|1486|-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs5982868|1488|-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs5982868|1486|-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs5982868|1491|-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs5982868|3752|-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs5982868|3763|-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs5982868|4024|-1||||||||||||Ensembl||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||10/10|NM_001141919.2:c.572-309C>T|||||||rs5982868||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||9/9|NM_001141920.2:c.530-309C>T|||||||rs5982868||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||9/9|NM_175569.3:c.527-309C>T|||||||rs5982868||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||10/10|XM_005274587.5:c.575-309C>T|||||||rs5982868||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-309C>T|||||||rs5982868||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2814055C>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||9/9|XM_017029787.3:c.533-309C>T|||||||rs5982868||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2814055C>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|24|-43|-42|23;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=103052;gnomADv4_1_AC_joint_XX=71863;gnomADv4_1_AC_joint_XY=31189;gnomADv4_1_AF_grpmax_joint=0.967593;gnomADv4_1_AF_joint=0.925811;gnomADv4_1_AF_joint_XX=0.923594;gnomADv4_1_AF_joint_XY=0.930959;gnomADv4_1_AN_grpmax_joint=216;gnomADv4_1_AN_joint=111310;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=33502;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=33309;gnomADv4_1_nhomalt_joint_XX=33309;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2814125 chrX_2814125_A_T A T 57 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=57;CADD_PHREDscore=0.074;CADD_Rawscore=-0.693444;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||9/9|ENST00000381174.10:c.527-239A>T|||||||rs5939337||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||8/8|ENST00000419513.7:c.506-239A>T|||||||rs5939337||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||7/7|ENST00000509484.3:c.461-239A>T|||||||rs5939337||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||10/10|ENST00000644266.2:c.572-239A>T|||||||rs5939337||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||2/2|ENST00000810817.1:n.493+1355T>A|||||||rs5939337||-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.322-3908T>A|||||||rs5939337||-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-3213T>A|||||||rs5939337||-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-3908T>A|||||||rs5939337||-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||2/2|ENST00000810821.1:n.343+1456T>A|||||||rs5939337||-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||3/3|ENST00000810822.1:n.328+1456T>A|||||||rs5939337||-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs5939337|1419|-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-2707T>A|||||||rs5939337||-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.285-2707T>A|||||||rs5939337||-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||3/3|ENST00000810826.1:n.441+1456T>A|||||||rs5939337||-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs5939337|3687|-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA|3/3||ENST00000810828.1:n.2165T>A||2165|||||rs5939337||-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs5939337|1420|-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs5939337|1416|-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs5939337|1418|-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs5939337|1416|-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs5939337|1421|-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs5939337|3682|-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs5939337|3693|-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs5939337|3954|-1||||||||||||Ensembl||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||10/10|NM_001141919.2:c.572-239A>T|||||||rs5939337||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||9/9|NM_001141920.2:c.530-239A>T|||||||rs5939337||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||9/9|NM_175569.3:c.527-239A>T|||||||rs5939337||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||10/10|XM_005274587.5:c.575-239A>T|||||||rs5939337||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-239A>T|||||||rs5939337||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2814125A>T|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||9/9|XM_017029787.3:c.533-239A>T|||||||rs5939337||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2814125A>T|||||||||||||;SpliceAI=T|XG|0.00|0.00|0.00|0.00|7|-46|33|-4;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=101612;gnomADv4_1_AC_joint_XX=71827;gnomADv4_1_AC_joint_XY=29785;gnomADv4_1_AF_grpmax_joint=0.971292;gnomADv4_1_AF_joint=0.926593;gnomADv4_1_AF_joint_XX=0.924605;gnomADv4_1_AF_joint_XY=0.931422;gnomADv4_1_AN_grpmax_joint=209;gnomADv4_1_AN_joint=109662;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=31978;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=33333;gnomADv4_1_nhomalt_joint_XX=33333;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2814315 chrX_2814315_C_CT C CT 49 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADDIndel_PHREDscore=1.115;CADDIndel_Rawscore=0.010457;CSQ=T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||9/9|ENST00000381174.10:c.527-39dup|||||||rs3830299||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||10|chrX:g.2814325dup|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||8/8|ENST00000419513.7:c.506-39dup|||||||rs3830299||1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||||||10|chrX:g.2814325dup|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||7/7|ENST00000509484.3:c.461-39dup|||||||rs3830299||1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||||||10|chrX:g.2814325dup|||||||||||||,T|intron_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||10/10|ENST00000644266.2:c.572-39dup|||||||rs3830299||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||10|chrX:g.2814325dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||2/2|ENST00000810817.1:n.493+1164dup|||||||rs3830299||-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.322-4099dup|||||||rs3830299||-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-3404dup|||||||rs3830299||-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-4099dup|||||||rs3830299||-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||2/2|ENST00000810821.1:n.343+1265dup|||||||rs3830299||-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||3/3|ENST00000810822.1:n.328+1265dup|||||||rs3830299||-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs3830299|1228|-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-2898dup|||||||rs3830299||-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.285-2898dup|||||||rs3830299||-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||3/3|ENST00000810826.1:n.441+1265dup|||||||rs3830299||-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs3830299|3496|-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA|3/3||ENST00000810828.1:n.1974dup||1974-1975|||||rs3830299||-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs3830299|1229|-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs3830299|1225|-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs3830299|1227|-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs3830299|1225|-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs3830299|1230|-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs3830299|3491|-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs3830299|3502|-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs3830299|3763|-1||||||||||||Ensembl|||||||chrX:g.2814325dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||10/10|NM_001141919.2:c.572-39dup|||||||rs3830299||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||10|chrX:g.2814325dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||9/9|NM_001141920.2:c.530-39dup|||||||rs3830299||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||10|chrX:g.2814325dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||9/9|NM_175569.3:c.527-39dup|||||||rs3830299||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||10|chrX:g.2814325dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||10/10|XM_005274587.5:c.575-39dup|||||||rs3830299||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||10|chrX:g.2814325dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||7/7|XM_011545575.4:c.377-39dup|||||||rs3830299||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||10|chrX:g.2814325dup|||||||||||||,T|intron_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||9/9|XM_017029787.3:c.533-39dup|||||||rs3830299||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||10|chrX:g.2814325dup|||||||||||||;SpliceAI=CT|XG|0.00|0.00|0.00|0.00|49|-1|19|48;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=510437;gnomADv4_1_AC_joint_XX=414050;gnomADv4_1_AC_joint_XY=96387;gnomADv4_1_AF_grpmax_joint=0.661738;gnomADv4_1_AF_joint=0.647395;gnomADv4_1_AF_joint_XX=0.634797;gnomADv4_1_AF_joint_XY=0.707729;gnomADv4_1_AN_grpmax_joint=586847;gnomADv4_1_AN_joint=788448;gnomADv4_1_AN_joint_XX=652256;gnomADv4_1_AN_joint_XY=136192;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=98496;gnomADv4_1_nhomalt_joint_XX=98496;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2815068 chrX_2815068_T_G T G 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=1.513;CADD_Rawscore=0.090347;CSQ=G|3_prime_UTR_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding|10/10||ENST00000381174.10:c.*688T>G||1454|||||rs5939124||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs5939124|621|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs5939124|621|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding|11/11||ENST00000644266.2:c.*688T>G||1511|||||rs5939124||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||2/2|ENST00000810817.1:n.493+412A>C|||||||rs5939124||-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+4092A>C|||||||rs5939124||-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-4156A>C|||||||rs5939124||-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-4851A>C|||||||rs5939124||-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||2/2|ENST00000810821.1:n.343+513A>C|||||||rs5939124||-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||3/3|ENST00000810822.1:n.328+513A>C|||||||rs5939124||-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs5939124|476|-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-3650A>C|||||||rs5939124||-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.285-3650A>C|||||||rs5939124||-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||3/3|ENST00000810826.1:n.441+513A>C|||||||rs5939124||-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs5939124|2744|-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA|3/3||ENST00000810828.1:n.1222A>C||1222|||||rs5939124||-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs5939124|477|-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs5939124|473|-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs5939124|475|-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs5939124|473|-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs5939124|478|-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs5939124|2739|-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs5939124|2750|-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs5939124|3011|-1||||||||||||Ensembl||T|T||||chrX:g.2815068T>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding|11/11||NM_001141919.2:c.*688T>G||1511|||||rs5939124||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2815068T>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding|10/10||NM_001141920.2:c.*688T>G||1469|||||rs5939124||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2815068T>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding|10/10||NM_175569.3:c.*688T>G||1466|||||rs5939124||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2815068T>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding|11/11||XM_005274587.5:c.*688T>G||1514|||||rs5939124||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2815068T>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding|8/8||XM_011545575.4:c.*688T>G||1316|||||rs5939124||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2815068T>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding|10/10||XM_017029787.3:c.*688T>G||1472|||||rs5939124||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2815068T>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|1|-4|-1|42;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81172;gnomADv4_1_AC_joint_XX=57506;gnomADv4_1_AC_joint_XY=23666;gnomADv4_1_AF_grpmax_joint=0.796171;gnomADv4_1_AF_joint=0.736682;gnomADv4_1_AF_joint_XX=0.739665;gnomADv4_1_AF_joint_XY=0.729531;gnomADv4_1_AN_grpmax_joint=52755;gnomADv4_1_AN_joint=110186;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=32440;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=21506;gnomADv4_1_nhomalt_joint_XX=21506;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2815169 chrX_2815169_G_A G A 58 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=0.146;CADD_Rawscore=-0.509441;CSQ=A|3_prime_UTR_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding|10/10||ENST00000381174.10:c.*789G>A||1555|||||rs5939125||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs5939125|722|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs5939125|722|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding|11/11||ENST00000644266.2:c.*789G>A||1612|||||rs5939125||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||2/2|ENST00000810817.1:n.493+311C>T|||||||rs5939125||-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+3991C>T|||||||rs5939125||-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-4257C>T|||||||rs5939125||-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-4952C>T|||||||rs5939125||-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||2/2|ENST00000810821.1:n.343+412C>T|||||||rs5939125||-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||3/3|ENST00000810822.1:n.328+412C>T|||||||rs5939125||-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs5939125|375|-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-3751C>T|||||||rs5939125||-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.285-3751C>T|||||||rs5939125||-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||3/3|ENST00000810826.1:n.441+412C>T|||||||rs5939125||-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs5939125|2643|-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA|3/3||ENST00000810828.1:n.1121C>T||1121|||||rs5939125||-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs5939125|376|-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs5939125|372|-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs5939125|374|-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs5939125|372|-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs5939125|377|-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs5939125|2638|-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs5939125|2649|-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs5939125|2910|-1||||||||||||Ensembl||G|G||||chrX:g.2815169G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding|11/11||NM_001141919.2:c.*789G>A||1612|||||rs5939125||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2815169G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding|10/10||NM_001141920.2:c.*789G>A||1570|||||rs5939125||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2815169G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding|10/10||NM_175569.3:c.*789G>A||1567|||||rs5939125||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2815169G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding|11/11||XM_005274587.5:c.*789G>A||1615|||||rs5939125||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2815169G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding|8/8||XM_011545575.4:c.*789G>A||1417|||||rs5939125||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2815169G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding|10/10||XM_017029787.3:c.*789G>A||1573|||||rs5939125||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2815169G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|-7|-46|-7|-48;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80667;gnomADv4_1_AC_joint_XX=57237;gnomADv4_1_AC_joint_XY=23430;gnomADv4_1_AF_grpmax_joint=0.792809;gnomADv4_1_AF_joint=0.733783;gnomADv4_1_AF_joint_XX=0.736376;gnomADv4_1_AF_joint_XY=0.727527;gnomADv4_1_AN_grpmax_joint=52676;gnomADv4_1_AN_joint=109933;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=32205;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=21305;gnomADv4_1_nhomalt_joint_XX=21305;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2815235 chrX_2815235_G_A G A 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=0.509;CADD_Rawscore=-0.188934;CSQ=A|3_prime_UTR_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding|10/10||ENST00000381174.10:c.*855G>A||1621|||||rs5939339||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs5939339|788|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs5939339|788|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding|11/11||ENST00000644266.2:c.*855G>A||1678|||||rs5939339||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||2/2|ENST00000810817.1:n.493+245C>T|||||||rs5939339||-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+3925C>T|||||||rs5939339||-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-4323C>T|||||||rs5939339||-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-5018C>T|||||||rs5939339||-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||2/2|ENST00000810821.1:n.343+346C>T|||||||rs5939339||-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||3/3|ENST00000810822.1:n.328+346C>T|||||||rs5939339||-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs5939339|309|-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-3817C>T|||||||rs5939339||-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.285-3817C>T|||||||rs5939339||-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||3/3|ENST00000810826.1:n.441+346C>T|||||||rs5939339||-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs5939339|2577|-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA|3/3||ENST00000810828.1:n.1055C>T||1055|||||rs5939339||-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs5939339|310|-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs5939339|306|-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs5939339|308|-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs5939339|306|-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs5939339|311|-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs5939339|2572|-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs5939339|2583|-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs5939339|2844|-1||||||||||||Ensembl||G|G||||chrX:g.2815235G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding|11/11||NM_001141919.2:c.*855G>A||1678|||||rs5939339||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2815235G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding|10/10||NM_001141920.2:c.*855G>A||1636|||||rs5939339||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2815235G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding|10/10||NM_175569.3:c.*855G>A||1633|||||rs5939339||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2815235G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding|11/11||XM_005274587.5:c.*855G>A||1681|||||rs5939339||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2815235G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding|8/8||XM_011545575.4:c.*855G>A||1483|||||rs5939339||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2815235G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding|10/10||XM_017029787.3:c.*855G>A||1639|||||rs5939339||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2815235G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|15|-8|-8|25;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=100944;gnomADv4_1_AC_joint_XX=70703;gnomADv4_1_AC_joint_XY=30241;gnomADv4_1_AF_grpmax_joint=0.972677;gnomADv4_1_AF_joint=0.910464;gnomADv4_1_AF_joint_XX=0.908569;gnomADv4_1_AF_joint_XY=0.914925;gnomADv4_1_AN_grpmax_joint=52995;gnomADv4_1_AN_joint=110871;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=33053;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=32442;gnomADv4_1_nhomalt_joint_XX=32442;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2815600 chrX_2815600_A_G A G 50 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=0.768;CADD_Rawscore=-0.085605;CSQ=G|3_prime_UTR_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding|10/10||ENST00000381174.10:c.*1220A>G||1986|||||rs3672||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs3672|1153|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs3672|1153|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding|11/11||ENST00000644266.2:c.*1220A>G||2043|||||rs3672||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA|2/3||ENST00000810817.1:n.373T>C||373|||||rs3672||-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+3560T>C|||||||rs3672||-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-4688T>C|||||||rs3672||-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-5383T>C|||||||rs3672||-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA|2/3||ENST00000810821.1:n.324T>C||324|||||rs3672||-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA|3/4||ENST00000810822.1:n.309T>C||309|||||rs3672||-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA|3/3||ENST00000810823.1:n.384T>C||384|||||rs3672||-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-4182T>C|||||||rs3672||-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+3560T>C|||||||rs3672||-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA|3/4||ENST00000810826.1:n.422T>C||422|||||rs3672||-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs3672|2212|-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA|3/3||ENST00000810828.1:n.690T>C||690|||||rs3672||-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA|3/3||ENST00000810829.1:n.333T>C||333|||||rs3672||-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA|3/3||ENST00000810830.1:n.454T>C||454|||||rs3672||-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA|2/2||ENST00000810831.1:n.338T>C||338|||||rs3672||-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA|3/3||ENST00000810832.1:n.410T>C||410|||||rs3672||-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA|3/3||ENST00000810833.1:n.428T>C||428|||||rs3672||-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs3672|2207|-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs3672|2218|-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs3672|2479|-1||||||||||||Ensembl||A|A||||chrX:g.2815600A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding|11/11||NM_001141919.2:c.*1220A>G||2043|||||rs3672||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2815600A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding|10/10||NM_001141920.2:c.*1220A>G||2001|||||rs3672||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2815600A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding|10/10||NM_175569.3:c.*1220A>G||1998|||||rs3672||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2815600A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding|11/11||XM_005274587.5:c.*1220A>G||2046|||||rs3672||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2815600A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding|8/8||XM_011545575.4:c.*1220A>G||1848|||||rs3672||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2815600A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding|10/10||XM_017029787.3:c.*1220A>G||2004|||||rs3672||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2815600A>G|||||||||||||;SpliceAI=G|XG|0.00|0.00|0.00|0.00|-23|28|21|-24;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84940;gnomADv4_1_AC_joint_XX=59924;gnomADv4_1_AC_joint_XY=25016;gnomADv4_1_AF_grpmax_joint=0.907762;gnomADv4_1_AF_joint=0.773328;gnomADv4_1_AF_joint_XX=0.771024;gnomADv4_1_AF_joint_XY=0.778902;gnomADv4_1_AN_grpmax_joint=52733;gnomADv4_1_AN_joint=109837;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=32117;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=24579;gnomADv4_1_nhomalt_joint_XX=24579;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2815627 chrX_2815627_G_A G A 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.181;CADD_Rawscore=-0.452789;CSQ=A|3_prime_UTR_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding|10/10||ENST00000381174.10:c.*1247G>A||2013|||||rs3671||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs3671|1180|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs3671|1180|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding|11/11||ENST00000644266.2:c.*1247G>A||2070|||||rs3671||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA|2/3||ENST00000810817.1:n.346C>T||346|||||rs3671||-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+3533C>T|||||||rs3671||-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-4715C>T|||||||rs3671||-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-5410C>T|||||||rs3671||-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA|2/3||ENST00000810821.1:n.297C>T||297|||||rs3671||-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA|3/4||ENST00000810822.1:n.282C>T||282|||||rs3671||-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA|3/3||ENST00000810823.1:n.357C>T||357|||||rs3671||-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-4209C>T|||||||rs3671||-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+3533C>T|||||||rs3671||-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA|3/4||ENST00000810826.1:n.395C>T||395|||||rs3671||-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs3671|2185|-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA|3/3||ENST00000810828.1:n.663C>T||663|||||rs3671||-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA|3/3||ENST00000810829.1:n.306C>T||306|||||rs3671||-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA|3/3||ENST00000810830.1:n.427C>T||427|||||rs3671||-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA|2/2||ENST00000810831.1:n.311C>T||311|||||rs3671||-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA|3/3||ENST00000810832.1:n.383C>T||383|||||rs3671||-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA|3/3||ENST00000810833.1:n.401C>T||401|||||rs3671||-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs3671|2180|-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs3671|2191|-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs3671|2452|-1||||||||||||Ensembl||G|G||||chrX:g.2815627G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding|11/11||NM_001141919.2:c.*1247G>A||2070|||||rs3671||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2815627G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding|10/10||NM_001141920.2:c.*1247G>A||2028|||||rs3671||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2815627G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding|10/10||NM_175569.3:c.*1247G>A||2025|||||rs3671||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2815627G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding|11/11||XM_005274587.5:c.*1247G>A||2073|||||rs3671||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2815627G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding|8/8||XM_011545575.4:c.*1247G>A||1875|||||rs3671||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2815627G>A|||||||||||||,A|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding|10/10||XM_017029787.3:c.*1247G>A||2031|||||rs3671||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2815627G>A|||||||||||||;SpliceAI=A|XG|0.00|0.00|0.00|0.00|37|-50|14|36;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82958;gnomADv4_1_AC_joint_XX=58882;gnomADv4_1_AC_joint_XY=24076;gnomADv4_1_AF_grpmax_joint=0.821099;gnomADv4_1_AF_joint=0.754919;gnomADv4_1_AF_joint_XX=0.757598;gnomADv4_1_AF_joint_XY=0.748446;gnomADv4_1_AN_grpmax_joint=52666;gnomADv4_1_AN_joint=109890;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=32168;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=22615;gnomADv4_1_nhomalt_joint_XX=22615;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2815802 chrX_2815802_C_CAT C CAT 39 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=39;CADDIndel_PHREDscore=0.206;CADDIndel_Rawscore=-0.419637;CSQ=AT|3_prime_UTR_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding|10/10||ENST00000381174.10:c.*1423_*1424insTA||2188-2189|||||rs200022655||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||1|chrX:g.2815803_2815804insTA|||||||||||||,AT|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs200022655|1355|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs200022655|1355|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|3_prime_UTR_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding|11/11||ENST00000644266.2:c.*1423_*1424insTA||2245-2246|||||rs200022655||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||1|chrX:g.2815803_2815804insTA|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-63_233-62insAT|||||||rs200022655||-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+3357_321+3358insAT|||||||rs200022655||-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-4891_210-4890insAT|||||||rs200022655||-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-5586_198-5585insAT|||||||rs200022655||-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-63_184-62insAT|||||||rs200022655||-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.169-63_169-62insAT|||||||rs200022655||-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.244-63_244-62insAT|||||||rs200022655||-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-4385_202-4384insAT|||||||rs200022655||-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+3357_284+3358insAT|||||||rs200022655||-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.282-63_282-62insAT|||||||rs200022655||-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs200022655|2009|-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.550-63_550-62insAT|||||||rs200022655||-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.193-63_193-62insAT|||||||rs200022655||-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.314-63_314-62insAT|||||||rs200022655||-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-63_198-62insAT|||||||rs200022655||-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.270-63_270-62insAT|||||||rs200022655||-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.267-42_267-41insAT|||||||rs200022655||-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs200022655|2004|-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs200022655|2015|-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs200022655|2276|-1||||||||||||Ensembl|||||||chrX:g.2815803_2815804insTA|||||||||||||,AT|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding|11/11||NM_001141919.2:c.*1423_*1424insTA||2245-2246|||||rs200022655||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||1|chrX:g.2815803_2815804insTA|||||||||||||,AT|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding|10/10||NM_001141920.2:c.*1423_*1424insTA||2203-2204|||||rs200022655||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||1|chrX:g.2815803_2815804insTA|||||||||||||,AT|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding|10/10||NM_175569.3:c.*1423_*1424insTA||2200-2201|||||rs200022655||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||1|chrX:g.2815803_2815804insTA|||||||||||||,AT|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding|11/11||XM_005274587.5:c.*1423_*1424insTA||2248-2249|||||rs200022655||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||1|chrX:g.2815803_2815804insTA|||||||||||||,AT|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding|8/8||XM_011545575.4:c.*1423_*1424insTA||2050-2051|||||rs200022655||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||1|chrX:g.2815803_2815804insTA|||||||||||||,AT|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding|10/10||XM_017029787.3:c.*1423_*1424insTA||2206-2207|||||rs200022655||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||1|chrX:g.2815803_2815804insTA|||||||||||||;TYPE=INDEL;VEP_Allele=AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59682;gnomADv4_1_AC_joint_XX=43323;gnomADv4_1_AC_joint_XY=16359;gnomADv4_1_AF_grpmax_joint=0.718717;gnomADv4_1_AF_joint=0.572335;gnomADv4_1_AF_joint_XX=0.579882;gnomADv4_1_AF_joint_XY=0.553267;gnomADv4_1_AN_grpmax_joint=51578;gnomADv4_1_AN_joint=104278;gnomADv4_1_AN_joint_XX=74710;gnomADv4_1_AN_joint_XY=29568;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13829;gnomADv4_1_nhomalt_joint_XX=13829;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2815821 chrX_2815821_A_ACACACACACACACC A ACACACACACACACC 40 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=40;CADDIndel_PHREDscore=0.402;CADDIndel_Rawscore=-0.247928;CSQ=CACACACACACACC|3_prime_UTR_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding|10/10||ENST00000381174.10:c.*1442_*1443insACACACACACACCC||2207-2208|||||rs1491288808||1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||||||1|chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs1491288808|1374|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs1491288808|1374|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|3_prime_UTR_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding|11/11||ENST00000644266.2:c.*1442_*1443insACACACACACACCC||2264-2265|||||rs1491288808||1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||||||1|chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-82_233-81insGGTGTGTGTGTGTG|||||||rs1491288808||-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+3338_321+3339insGGTGTGTGTGTGTG|||||||rs1491288808||-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-4910_210-4909insGGTGTGTGTGTGTG|||||||rs1491288808||-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-5605_198-5604insGGTGTGTGTGTGTG|||||||rs1491288808||-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-82_184-81insGGTGTGTGTGTGTG|||||||rs1491288808||-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.169-82_169-81insGGTGTGTGTGTGTG|||||||rs1491288808||-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.244-82_244-81insGGTGTGTGTGTGTG|||||||rs1491288808||-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-4404_202-4403insGGTGTGTGTGTGTG|||||||rs1491288808||-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+3338_284+3339insGGTGTGTGTGTGTG|||||||rs1491288808||-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.282-82_282-81insGGTGTGTGTGTGTG|||||||rs1491288808||-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs1491288808|1990|-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.550-82_550-81insGGTGTGTGTGTGTG|||||||rs1491288808||-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.193-82_193-81insGGTGTGTGTGTGTG|||||||rs1491288808||-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.314-82_314-81insGGTGTGTGTGTGTG|||||||rs1491288808||-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-82_198-81insGGTGTGTGTGTGTG|||||||rs1491288808||-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.270-82_270-81insGGTGTGTGTGTGTG|||||||rs1491288808||-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.267-61_267-60insGGTGTGTGTGTGTG|||||||rs1491288808||-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs1491288808|1985|-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs1491288808|1996|-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs1491288808|2257|-1||||||||||||Ensembl|||||||chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding|11/11||NM_001141919.2:c.*1442_*1443insACACACACACACCC||2264-2265|||||rs1491288808||1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||||||1|chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding|10/10||NM_001141920.2:c.*1442_*1443insACACACACACACCC||2222-2223|||||rs1491288808||1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||||||1|chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding|10/10||NM_175569.3:c.*1442_*1443insACACACACACACCC||2219-2220|||||rs1491288808||1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||||||1|chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding|11/11||XM_005274587.5:c.*1442_*1443insACACACACACACCC||2267-2268|||||rs1491288808||1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||||||1|chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding|8/8||XM_011545575.4:c.*1442_*1443insACACACACACACCC||2069-2070|||||rs1491288808||1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||||||1|chrX:g.2815822_2815823insACACACACACACCC|||||||||||||,CACACACACACACC|3_prime_UTR_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding|10/10||XM_017029787.3:c.*1442_*1443insACACACACACACCC||2225-2226|||||rs1491288808||1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||||||1|chrX:g.2815822_2815823insACACACACACACCC|||||||||||||;TYPE=INDEL;VEP_Allele=CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC,CACACACACACACC;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47687;gnomADv4_1_AC_joint_XX=34444;gnomADv4_1_AC_joint_XY=13243;gnomADv4_1_AF_grpmax_joint=0.570471;gnomADv4_1_AF_joint=0.445315;gnomADv4_1_AF_joint_XX=0.448116;gnomADv4_1_AF_joint_XY=0.438191;gnomADv4_1_AN_grpmax_joint=51645;gnomADv4_1_AN_joint=107086;gnomADv4_1_AN_joint_XX=76864;gnomADv4_1_AN_joint_XY=30222;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8787;gnomADv4_1_nhomalt_joint_XX=8787;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2816680 chrX_2816680_ATT_A ATT A 53 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADDIndel_PHREDscore=0.44;CADDIndel_Rawscore=-0.225176;CSQ=-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs60328012|754|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs60328012|2234|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs60328012|2234|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs60328012|181|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-942_233-941del|||||||rs60328012||-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+2478_321+2479del|||||||rs60328012||-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-5770_210-5769del|||||||rs60328012||-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-6465_198-6464del|||||||rs60328012||-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-942_184-941del|||||||rs60328012||-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.169-942_169-941del|||||||rs60328012||-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.244-942_244-941del|||||||rs60328012||-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-5264_202-5263del|||||||rs60328012||-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+2478_284+2479del|||||||rs60328012||-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.282-942_282-941del|||||||rs60328012||-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs60328012|1130|-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.550-942_550-941del|||||||rs60328012||-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.193-942_193-941del|||||||rs60328012||-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.314-942_314-941del|||||||rs60328012||-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-942_198-941del|||||||rs60328012||-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.270-942_270-941del|||||||rs60328012||-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.267-921_267-920del|||||||rs60328012||-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs60328012|1125|-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs60328012|1136|-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs60328012|1397|-1||||||||||||Ensembl||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs60328012|181|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs60328012|181|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs60328012|181|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs60328012|181|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs60328012|181|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||TT|TT||||chrX:g.2816694_2816695del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs60328012|181|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||TT|TT||||chrX:g.2816694_2816695del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57324;gnomADv4_1_AC_joint_XX=43315;gnomADv4_1_AC_joint_XY=14009;gnomADv4_1_AF_grpmax_joint=0.72737;gnomADv4_1_AF_joint=0.575427;gnomADv4_1_AF_joint_XX=0.571453;gnomADv4_1_AF_joint_XY=0.58807;gnomADv4_1_AN_grpmax_joint=49767;gnomADv4_1_AN_joint=99620;gnomADv4_1_AN_joint_XX=75798;gnomADv4_1_AN_joint_XY=23822;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13746;gnomADv4_1_nhomalt_joint_XX=13746;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2816797 chrX_2816797_G_A G A 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=1.051;CADD_Rawscore=-0.005004;CSQ=A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs5939340|870|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs5939340|2350|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs5939340|2350|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs5939340|297|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-1057C>T|||||||rs5939340||-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+2363C>T|||||||rs5939340||-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-5885C>T|||||||rs5939340||-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-6580C>T|||||||rs5939340||-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-1057C>T|||||||rs5939340||-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.169-1057C>T|||||||rs5939340||-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.244-1057C>T|||||||rs5939340||-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-5379C>T|||||||rs5939340||-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+2363C>T|||||||rs5939340||-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.282-1057C>T|||||||rs5939340||-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs5939340|1015|-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.550-1057C>T|||||||rs5939340||-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.193-1057C>T|||||||rs5939340||-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.314-1057C>T|||||||rs5939340||-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-1057C>T|||||||rs5939340||-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.270-1057C>T|||||||rs5939340||-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.267-1036C>T|||||||rs5939340||-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs5939340|1010|-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs5939340|1021|-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs5939340|1282|-1||||||||||||Ensembl||G|G||||chrX:g.2816797G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs5939340|297|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2816797G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs5939340|297|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2816797G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs5939340|297|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2816797G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs5939340|297|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2816797G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs5939340|297|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2816797G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs5939340|297|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2816797G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61852;gnomADv4_1_AC_joint_XX=44400;gnomADv4_1_AC_joint_XY=17452;gnomADv4_1_AF_grpmax_joint=0.727401;gnomADv4_1_AF_joint=0.572651;gnomADv4_1_AF_joint_XX=0.572652;gnomADv4_1_AF_joint_XY=0.572647;gnomADv4_1_AN_grpmax_joint=52315;gnomADv4_1_AN_joint=108010;gnomADv4_1_AN_joint_XX=77534;gnomADv4_1_AN_joint_XY=30476;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14271;gnomADv4_1_nhomalt_joint_XX=14271;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2816889 chrX_2816889_G_C G C 50 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=1.241;CADD_Rawscore=0.038416;CSQ=C|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs5939341|962|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs5939341|2442|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs5939341|2442|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs5939341|389|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-1149C>G|||||||rs5939341||-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+2271C>G|||||||rs5939341||-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-5977C>G|||||||rs5939341||-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-6672C>G|||||||rs5939341||-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-1149C>G|||||||rs5939341||-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.169-1149C>G|||||||rs5939341||-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.244-1149C>G|||||||rs5939341||-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-5471C>G|||||||rs5939341||-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+2271C>G|||||||rs5939341||-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.282-1149C>G|||||||rs5939341||-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs5939341|923|-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.550-1149C>G|||||||rs5939341||-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.193-1149C>G|||||||rs5939341||-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.314-1149C>G|||||||rs5939341||-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-1149C>G|||||||rs5939341||-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.270-1149C>G|||||||rs5939341||-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.267-1128C>G|||||||rs5939341||-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs5939341|918|-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs5939341|929|-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs5939341|1190|-1||||||||||||Ensembl||G|G||||chrX:g.2816889G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs5939341|389|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2816889G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs5939341|389|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2816889G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs5939341|389|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2816889G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs5939341|389|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2816889G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs5939341|389|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2816889G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs5939341|389|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2816889G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62550;gnomADv4_1_AC_joint_XX=44969;gnomADv4_1_AC_joint_XY=17581;gnomADv4_1_AF_grpmax_joint=0.736876;gnomADv4_1_AF_joint=0.581168;gnomADv4_1_AF_joint_XX=0.580935;gnomADv4_1_AF_joint_XY=0.581767;gnomADv4_1_AN_grpmax_joint=52044;gnomADv4_1_AN_joint=107628;gnomADv4_1_AN_joint_XX=77408;gnomADv4_1_AN_joint_XY=30220;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14657;gnomADv4_1_nhomalt_joint_XX=14657;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2816907 chrX_2816907_AC_A AC A 50 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADDIndel_PHREDscore=0.893;CADDIndel_Rawscore=-0.047063;CSQ=-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs113131499|981|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs113131499|2461|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs113131499|2461|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs113131499|408|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-1168del|||||||rs113131499||-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+2252del|||||||rs113131499||-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-5996del|||||||rs113131499||-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-6691del|||||||rs113131499||-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-1168del|||||||rs113131499||-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.169-1168del|||||||rs113131499||-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.244-1168del|||||||rs113131499||-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-5490del|||||||rs113131499||-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+2252del|||||||rs113131499||-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.282-1168del|||||||rs113131499||-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs113131499|904|-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.550-1168del|||||||rs113131499||-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.193-1168del|||||||rs113131499||-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.314-1168del|||||||rs113131499||-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-1168del|||||||rs113131499||-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.270-1168del|||||||rs113131499||-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.267-1147del|||||||rs113131499||-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs113131499|899|-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs113131499|910|-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs113131499|1171|-1||||||||||||Ensembl||C|C||||chrX:g.2816912del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs113131499|408|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2816912del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs113131499|408|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2816912del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs113131499|408|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2816912del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs113131499|408|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2816912del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs113131499|408|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2816912del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs113131499|408|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2816912del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62128;gnomADv4_1_AC_joint_XX=44766;gnomADv4_1_AC_joint_XY=17362;gnomADv4_1_AF_grpmax_joint=0.73068;gnomADv4_1_AF_joint=0.578139;gnomADv4_1_AF_joint_XX=0.578163;gnomADv4_1_AF_joint_XY=0.578078;gnomADv4_1_AN_grpmax_joint=52005;gnomADv4_1_AN_joint=107462;gnomADv4_1_AN_joint_XX=77428;gnomADv4_1_AN_joint_XY=30034;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14458;gnomADv4_1_nhomalt_joint_XX=14458;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2817087 chrX_2817087_A_AAGGGAGGGAGGGAGAGACAGAG A AAGGGAGGGAGGGAGAGACAGAG 21 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=21;CADDIndel_PHREDscore=0.581;CADDIndel_Rawscore=-0.155602;CSQ=AGGGAGGGAGGGAGAGACAGAG|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs769198068|1160|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs769198068|2640|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs769198068|2640|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs769198068|587|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-1348_233-1347insCTCTGTCTCTCCCTCCCTCCCT|||||||rs769198068||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+2072_321+2073insCTCTGTCTCTCCCTCCCTCCCT|||||||rs769198068||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-6176_210-6175insCTCTGTCTCTCCCTCCCTCCCT|||||||rs769198068||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-6871_198-6870insCTCTGTCTCTCCCTCCCTCCCT|||||||rs769198068||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-1348_184-1347insCTCTGTCTCTCCCTCCCTCCCT|||||||rs769198068||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.169-1348_169-1347insCTCTGTCTCTCCCTCCCTCCCT|||||||rs769198068||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.244-1348_244-1347insCTCTGTCTCTCCCTCCCTCCCT|||||||rs769198068||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-5670_202-5669insCTCTGTCTCTCCCTCCCTCCCT|||||||rs769198068||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+2072_284+2073insCTCTGTCTCTCCCTCCCTCCCT|||||||rs769198068||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.282-1348_282-1347insCTCTGTCTCTCCCTCCCTCCCT|||||||rs769198068||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs769198068|724|-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.550-1348_550-1347insCTCTGTCTCTCCCTCCCTCCCT|||||||rs769198068||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.193-1348_193-1347insCTCTGTCTCTCCCTCCCTCCCT|||||||rs769198068||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.314-1348_314-1347insCTCTGTCTCTCCCTCCCTCCCT|||||||rs769198068||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-1348_198-1347insCTCTGTCTCTCCCTCCCTCCCT|||||||rs769198068||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.270-1348_270-1347insCTCTGTCTCTCCCTCCCTCCCT|||||||rs769198068||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.267-1327_267-1326insCTCTGTCTCTCCCTCCCTCCCT|||||||rs769198068||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs769198068|719|-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs769198068|730|-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs769198068|991|-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs769198068|587|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs769198068|587|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs769198068|587|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs769198068|587|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs769198068|587|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||,AGGGAGGGAGGGAGAGACAGAG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs769198068|587|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq|||||||chrX:g.2817104_2817105insCAGAGAGGGAGGGAGGGAGAGA|||||||||||||;TYPE=INDEL;VEP_Allele=AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG,AGGGAGGGAGGGAGAGACAGAG;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=95;gnomADv4_1_AC_joint_XX=85;gnomADv4_1_AC_joint_XY=10;gnomADv4_1_AF_grpmax_joint=0.00785634;gnomADv4_1_AF_joint=0.00313987;gnomADv4_1_AF_joint_XX=0.00325172;gnomADv4_1_AF_joint_XY=0.00242954;gnomADv4_1_AN_grpmax_joint=891;gnomADv4_1_AN_joint=30256;gnomADv4_1_AN_joint_XX=26140;gnomADv4_1_AN_joint_XY=4116;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2817099 chrX_2817099_G_GAGAGAC G GAGAGAC 26 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=26;CADDIndel_PHREDscore=0.679;CADDIndel_Rawscore=-0.116403;CSQ=AGAGAC|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs761260414|1172|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs761260414|2652|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs761260414|2652|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs761260414|599|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-1360_233-1359insGTCTCT|||||||rs761260414||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+2060_321+2061insGTCTCT|||||||rs761260414||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-6188_210-6187insGTCTCT|||||||rs761260414||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-6883_198-6882insGTCTCT|||||||rs761260414||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-1360_184-1359insGTCTCT|||||||rs761260414||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.169-1360_169-1359insGTCTCT|||||||rs761260414||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.244-1360_244-1359insGTCTCT|||||||rs761260414||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-5682_202-5681insGTCTCT|||||||rs761260414||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+2060_284+2061insGTCTCT|||||||rs761260414||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.282-1360_282-1359insGTCTCT|||||||rs761260414||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs761260414|712|-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.550-1360_550-1359insGTCTCT|||||||rs761260414||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.193-1360_193-1359insGTCTCT|||||||rs761260414||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.314-1360_314-1359insGTCTCT|||||||rs761260414||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-1360_198-1359insGTCTCT|||||||rs761260414||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.270-1360_270-1359insGTCTCT|||||||rs761260414||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.267-1339_267-1338insGTCTCT|||||||rs761260414||-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs761260414|707|-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs761260414|718|-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs761260414|979|-1||||||||||||Ensembl|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs761260414|599|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs761260414|599|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs761260414|599|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs761260414|599|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs761260414|599|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||,AGAGAC|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs761260414|599|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq|||||||chrX:g.2817104_2817105insCAGAGA|||||||||||||;TYPE=INDEL;VEP_Allele=AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC,AGAGAC;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48186;gnomADv4_1_AC_joint_XX=40013;gnomADv4_1_AC_joint_XY=8173;gnomADv4_1_AF_grpmax_joint=0.77255;gnomADv4_1_AF_joint=0.598755;gnomADv4_1_AF_joint_XX=0.610122;gnomADv4_1_AF_joint_XY=0.548708;gnomADv4_1_AN_grpmax_joint=41719;gnomADv4_1_AN_joint=80477;gnomADv4_1_AN_joint_XX=65582;gnomADv4_1_AN_joint_XY=14895;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14509;gnomADv4_1_nhomalt_joint_XX=14509;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2817108 chrX_2817108_A_AG A AG 22 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=22;CADDIndel_PHREDscore=0.695;CADDIndel_Rawscore=-0.110589;CSQ=G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs773214253|1181|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs773214253|2661|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs773214253|2661|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs773214253|608|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-1369dup|||||||rs773214253||-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+2051dup|||||||rs773214253||-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-6197dup|||||||rs773214253||-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-6892dup|||||||rs773214253||-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-1369dup|||||||rs773214253||-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.169-1369dup|||||||rs773214253||-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.244-1369dup|||||||rs773214253||-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-5691dup|||||||rs773214253||-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+2051dup|||||||rs773214253||-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.282-1369dup|||||||rs773214253||-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs773214253|703|-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.550-1369dup|||||||rs773214253||-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.193-1369dup|||||||rs773214253||-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.314-1369dup|||||||rs773214253||-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-1369dup|||||||rs773214253||-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.270-1369dup|||||||rs773214253||-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.267-1348dup|||||||rs773214253||-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs773214253|698|-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs773214253|709|-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs773214253|970|-1||||||||||||Ensembl|||||||chrX:g.2817110dup|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs773214253|608|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq|||||||chrX:g.2817110dup|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs773214253|608|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq|||||||chrX:g.2817110dup|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs773214253|608|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq|||||||chrX:g.2817110dup|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs773214253|608|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq|||||||chrX:g.2817110dup|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs773214253|608|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq|||||||chrX:g.2817110dup|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs773214253|608|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq|||||||chrX:g.2817110dup|||||||||||||;TYPE=INDEL;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=49832;gnomADv4_1_AC_joint_XX=41211;gnomADv4_1_AC_joint_XY=8621;gnomADv4_1_AF_grpmax_joint=0.760397;gnomADv4_1_AF_joint=0.604068;gnomADv4_1_AF_joint_XX=0.61793;gnomADv4_1_AF_joint_XY=0.545564;gnomADv4_1_AN_grpmax_joint=43689;gnomADv4_1_AN_joint=82494;gnomADv4_1_AN_joint_XX=66692;gnomADv4_1_AN_joint_XY=15802;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14572;gnomADv4_1_nhomalt_joint_XX=14572;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2817111 chrX_2817111_A_AGGGAGAGAGGG A AGGGAGAGAGGG 20 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=20;CADDIndel_PHREDscore=0.358;CADDIndel_Rawscore=-0.277105;CSQ=GGGAGAGAGGG|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs1251602177|1184|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs1251602177|2664|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs1251602177|2664|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs1251602177|611|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-1372_233-1371insCCCTCTCTCCC|||||||rs1251602177||-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+2048_321+2049insCCCTCTCTCCC|||||||rs1251602177||-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-6200_210-6199insCCCTCTCTCCC|||||||rs1251602177||-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.198-6895_198-6894insCCCTCTCTCCC|||||||rs1251602177||-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-1372_184-1371insCCCTCTCTCCC|||||||rs1251602177||-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.169-1372_169-1371insCCCTCTCTCCC|||||||rs1251602177||-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.244-1372_244-1371insCCCTCTCTCCC|||||||rs1251602177||-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-5694_202-5693insCCCTCTCTCCC|||||||rs1251602177||-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+2048_284+2049insCCCTCTCTCCC|||||||rs1251602177||-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.282-1372_282-1371insCCCTCTCTCCC|||||||rs1251602177||-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs1251602177|700|-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.550-1372_550-1371insCCCTCTCTCCC|||||||rs1251602177||-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.193-1372_193-1371insCCCTCTCTCCC|||||||rs1251602177||-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.314-1372_314-1371insCCCTCTCTCCC|||||||rs1251602177||-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-1372_198-1371insCCCTCTCTCCC|||||||rs1251602177||-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.270-1372_270-1371insCCCTCTCTCCC|||||||rs1251602177||-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.267-1351_267-1350insCCCTCTCTCCC|||||||rs1251602177||-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs1251602177|695|-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs1251602177|706|-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs1251602177|967|-1||||||||||||Ensembl|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs1251602177|611|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs1251602177|611|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs1251602177|611|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs1251602177|611|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs1251602177|611|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||,GGGAGAGAGGG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs1251602177|611|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq|||||||chrX:g.2817111_2817112insGGGAGAGAGGG|||||||||||||;TYPE=INDEL;VEP_Allele=GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG,GGGAGAGAGGG;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=46787;gnomADv4_1_AC_joint_XX=38728;gnomADv4_1_AC_joint_XY=8059;gnomADv4_1_AF_grpmax_joint=0.804479;gnomADv4_1_AF_joint=0.718209;gnomADv4_1_AF_joint_XX=0.704658;gnomADv4_1_AF_joint_XY=0.791339;gnomADv4_1_AN_grpmax_joint=39336;gnomADv4_1_AN_joint=65144;gnomADv4_1_AN_joint_XX=54960;gnomADv4_1_AN_joint_XY=10184;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13174;gnomADv4_1_nhomalt_joint_XX=13174;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2817118 chrX_2817122_A_G;chrX_2817118_GAAGA_G GAAGA G 35 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=10;CADDIndel_PHREDscore=0.563;CADDIndel_Rawscore=-0.163435;CSQ=-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs138736942|1192|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs138736942|2672|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs138736942|2672|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs138736942|619|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-1382_233-1379del|||||||rs138736942||-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+2038_321+2041del|||||||rs138736942||-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-6210_210-6207del|||||||rs138736942||-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+6888_197+6891del|||||||rs138736942||-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-1382_184-1379del|||||||rs138736942||-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.169-1382_169-1379del|||||||rs138736942||-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.244-1382_244-1379del|||||||rs138736942||-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-5704_202-5701del|||||||rs138736942||-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+2038_284+2041del|||||||rs138736942||-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.282-1382_282-1379del|||||||rs138736942||-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs138736942|690|-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.550-1382_550-1379del|||||||rs138736942||-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.193-1382_193-1379del|||||||rs138736942||-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.314-1382_314-1379del|||||||rs138736942||-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-1382_198-1379del|||||||rs138736942||-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.270-1382_270-1379del|||||||rs138736942||-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.267-1361_267-1358del|||||||rs138736942||-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs138736942|685|-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs138736942|696|-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs138736942|957|-1||||||||||||Ensembl||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs138736942|619|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs138736942|619|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs138736942|619|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs138736942|619|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs138736942|619|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs138736942|619|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||AAGA|AAGA||||chrX:g.2817122_2817125del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40;gnomADv4_1_AC_joint_XX=34;gnomADv4_1_AC_joint_XY=6;gnomADv4_1_AF_grpmax_joint=0.0402542;gnomADv4_1_AF_joint=0.00602228;gnomADv4_1_AF_joint_XX=0.00770626;gnomADv4_1_AF_joint_XY=0.00269058;gnomADv4_1_AN_grpmax_joint=472;gnomADv4_1_AN_joint=6642;gnomADv4_1_AN_joint_XX=4412;gnomADv4_1_AN_joint_XY=2230;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2817122 chrX_2817122_A_G;chrX_2817118_GAAGA_G A G 35 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=35;CADD_PHREDscore=0.318;CADD_Rawscore=-0.307035;CSQ=G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs9723631|1195|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs9723631|2675|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs9723631|2675|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs9723631|622|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-1382T>C|||||||rs9723631||-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+2038T>C|||||||rs9723631||-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-6210T>C|||||||rs9723631||-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+6888T>C|||||||rs9723631||-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-1382T>C|||||||rs9723631||-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.169-1382T>C|||||||rs9723631||-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.244-1382T>C|||||||rs9723631||-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-5704T>C|||||||rs9723631||-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+2038T>C|||||||rs9723631||-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.282-1382T>C|||||||rs9723631||-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs9723631|690|-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.550-1382T>C|||||||rs9723631||-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.193-1382T>C|||||||rs9723631||-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.314-1382T>C|||||||rs9723631||-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-1382T>C|||||||rs9723631||-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.270-1382T>C|||||||rs9723631||-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.267-1361T>C|||||||rs9723631||-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs9723631|685|-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs9723631|696|-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs9723631|957|-1||||||||||||Ensembl||A|A||||chrX:g.2817122A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs9723631|622|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2817122A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs9723631|622|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2817122A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs9723631|622|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2817122A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs9723631|622|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2817122A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs9723631|622|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2817122A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs9723631|622|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2817122A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=51767;gnomADv4_1_AC_joint_XX=43376;gnomADv4_1_AC_joint_XY=8391;gnomADv4_1_AF_grpmax_joint=0.777974;gnomADv4_1_AF_joint=0.629899;gnomADv4_1_AF_joint_XX=0.637882;gnomADv4_1_AF_joint_XY=0.591624;gnomADv4_1_AN_grpmax_joint=43067;gnomADv4_1_AN_joint=82183;gnomADv4_1_AN_joint_XX=68000;gnomADv4_1_AN_joint_XY=14183;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14878;gnomADv4_1_nhomalt_joint_XX=14878;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2817150 chrX_2817150_A_AGGAG A AGGAG 40 . AC=2;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=0;AF=1.0;AF_XX=1.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=40;CADDIndel_PHREDscore=0.643;CADDIndel_Rawscore=-0.130442;CSQ=GGAG|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs199557516|1223|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs199557516|2703|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs199557516|2703|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs199557516|650|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-1414_233-1411dup|||||||rs199557516||-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+2006_321+2009dup|||||||rs199557516||-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.210-6242_210-6239dup|||||||rs199557516||-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+6856_197+6859dup|||||||rs199557516||-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-1414_184-1411dup|||||||rs199557516||-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.169-1414_169-1411dup|||||||rs199557516||-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.244-1414_244-1411dup|||||||rs199557516||-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-5736_202-5733dup|||||||rs199557516||-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+2006_284+2009dup|||||||rs199557516||-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.282-1414_282-1411dup|||||||rs199557516||-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs199557516|661|-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.550-1414_550-1411dup|||||||rs199557516||-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.193-1414_193-1411dup|||||||rs199557516||-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.314-1414_314-1411dup|||||||rs199557516||-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-1414_198-1411dup|||||||rs199557516||-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.270-1414_270-1411dup|||||||rs199557516||-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.267-1393_267-1390dup|||||||rs199557516||-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs199557516|656|-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs199557516|667|-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs199557516|928|-1||||||||||||Ensembl|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs199557516|650|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs199557516|650|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs199557516|650|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs199557516|650|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs199557516|650|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq|||||||chrX:g.2817160_2817163dup|||||||||||||,GGAG|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs199557516|650|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq|||||||chrX:g.2817160_2817163dup|||||||||||||;TYPE=INDEL;VEP_Allele=GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG,GGAG;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54336;gnomADv4_1_AC_joint_XX=47895;gnomADv4_1_AC_joint_XY=6441;gnomADv4_1_AF_grpmax_joint=0.864662;gnomADv4_1_AF_joint=0.735294;gnomADv4_1_AF_joint_XX=0.739851;gnomADv4_1_AF_joint_XY=0.703089;gnomADv4_1_AN_grpmax_joint=133;gnomADv4_1_AN_joint=73897;gnomADv4_1_AN_joint_XX=64736;gnomADv4_1_AN_joint_XY=9161;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=18754;gnomADv4_1_nhomalt_joint_XX=18754;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2817498 chrX_2817498_G_A G A 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=1.672;CADD_Rawscore=0.116706;CSQ=A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs5939342|1571|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs5939342|3051|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs5939342|3051|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs5939342|998|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-1758C>T|||||||rs5939342||-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+1662C>T|||||||rs5939342||-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+6512C>T|||||||rs5939342||-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+6512C>T|||||||rs5939342||-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-1758C>T|||||||rs5939342||-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.168+1662C>T|||||||rs5939342||-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.243+1662C>T|||||||rs5939342||-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-6080C>T|||||||rs5939342||-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+1662C>T|||||||rs5939342||-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.281+1662C>T|||||||rs5939342||-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs5939342|314|-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.549+1662C>T|||||||rs5939342||-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.192+1662C>T|||||||rs5939342||-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.313+1662C>T|||||||rs5939342||-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-1758C>T|||||||rs5939342||-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.269+1662C>T|||||||rs5939342||-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.266+1662C>T|||||||rs5939342||-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs5939342|309|-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs5939342|320|-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs5939342|581|-1||||||||||||Ensembl||G|G||||chrX:g.2817498G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs5939342|998|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2817498G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs5939342|998|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2817498G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs5939342|998|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2817498G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs5939342|998|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2817498G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs5939342|998|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2817498G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs5939342|998|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2817498G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62926;gnomADv4_1_AC_joint_XX=44425;gnomADv4_1_AC_joint_XY=18501;gnomADv4_1_AF_grpmax_joint=0.72693;gnomADv4_1_AF_joint=0.5691;gnomADv4_1_AF_joint_XX=0.5715;gnomADv4_1_AF_joint_XY=0.563419;gnomADv4_1_AN_grpmax_joint=52796;gnomADv4_1_AN_joint=110571;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=32837;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14289;gnomADv4_1_nhomalt_joint_XX=14289;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2817580 chrX_2817580_T_C T C 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.153;CADD_Rawscore=-0.496977;CSQ=C|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs5939343|1653|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs5939343|3133|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs5939343|3133|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs5939343|1080|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-1840A>G|||||||rs5939343||-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+1580A>G|||||||rs5939343||-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+6430A>G|||||||rs5939343||-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+6430A>G|||||||rs5939343||-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-1840A>G|||||||rs5939343||-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.168+1580A>G|||||||rs5939343||-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.243+1580A>G|||||||rs5939343||-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-6162A>G|||||||rs5939343||-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+1580A>G|||||||rs5939343||-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.281+1580A>G|||||||rs5939343||-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs5939343|232|-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.549+1580A>G|||||||rs5939343||-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.192+1580A>G|||||||rs5939343||-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.313+1580A>G|||||||rs5939343||-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-1840A>G|||||||rs5939343||-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.269+1580A>G|||||||rs5939343||-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.266+1580A>G|||||||rs5939343||-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs5939343|227|-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs5939343|238|-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs5939343|499|-1||||||||||||Ensembl||T|T||||chrX:g.2817580T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs5939343|1080|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2817580T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs5939343|1080|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2817580T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs5939343|1080|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2817580T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs5939343|1080|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2817580T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs5939343|1080|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2817580T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs5939343|1080|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2817580T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=63442;gnomADv4_1_AC_joint_XX=44649;gnomADv4_1_AC_joint_XY=18793;gnomADv4_1_AF_grpmax_joint=0.728551;gnomADv4_1_AF_joint=0.571529;gnomADv4_1_AF_joint_XX=0.574146;gnomADv4_1_AF_joint_XY=0.565407;gnomADv4_1_AN_grpmax_joint=52857;gnomADv4_1_AN_joint=111004;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=33238;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14386;gnomADv4_1_nhomalt_joint_XX=14386;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2817700 chrX_2817700_T_A T A 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=0.721;CADD_Rawscore=-0.101587;CSQ=A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs5939344|1773|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs5939344|3253|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs5939344|3253|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs5939344|1200|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-1960A>T|||||||rs5939344||-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+1460A>T|||||||rs5939344||-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+6310A>T|||||||rs5939344||-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+6310A>T|||||||rs5939344||-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-1960A>T|||||||rs5939344||-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.168+1460A>T|||||||rs5939344||-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.243+1460A>T|||||||rs5939344||-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.202-6282A>T|||||||rs5939344||-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+1460A>T|||||||rs5939344||-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.281+1460A>T|||||||rs5939344||-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs5939344|112|-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.549+1460A>T|||||||rs5939344||-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.192+1460A>T|||||||rs5939344||-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.313+1460A>T|||||||rs5939344||-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-1960A>T|||||||rs5939344||-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.269+1460A>T|||||||rs5939344||-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.266+1460A>T|||||||rs5939344||-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs5939344|107|-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs5939344|118|-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs5939344|379|-1||||||||||||Ensembl||T|T||||chrX:g.2817700T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs5939344|1200|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||T|T||||chrX:g.2817700T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs5939344|1200|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||T|T||||chrX:g.2817700T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs5939344|1200|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||T|T||||chrX:g.2817700T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs5939344|1200|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||T|T||||chrX:g.2817700T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs5939344|1200|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||T|T||||chrX:g.2817700T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs5939344|1200|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||T|T||||chrX:g.2817700T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=63487;gnomADv4_1_AC_joint_XX=44864;gnomADv4_1_AC_joint_XY=18623;gnomADv4_1_AF_grpmax_joint=0.728016;gnomADv4_1_AF_joint=0.574205;gnomADv4_1_AF_joint_XX=0.577177;gnomADv4_1_AF_joint_XY=0.567169;gnomADv4_1_AN_grpmax_joint=52845;gnomADv4_1_AN_joint=110565;gnomADv4_1_AN_joint_XX=77730;gnomADv4_1_AN_joint_XY=32835;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14435;gnomADv4_1_nhomalt_joint_XX=14435;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2817781 chrX_2817781_C_CATT C CATT 53 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADDIndel_PHREDscore=0.57;CADDIndel_Rawscore=-0.160531;CSQ=ATT|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs10673716|1854|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs10673716|3334|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs10673716|3334|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs10673716|1281|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-2042_233-2041insAAT|||||||rs10673716||-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+1378_321+1379insAAT|||||||rs10673716||-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+6228_209+6229insAAT|||||||rs10673716||-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+6228_197+6229insAAT|||||||rs10673716||-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-2042_184-2041insAAT|||||||rs10673716||-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.168+1378_168+1379insAAT|||||||rs10673716||-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.243+1378_243+1379insAAT|||||||rs10673716||-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.201+6228_201+6229insAAT|||||||rs10673716||-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+1378_284+1379insAAT|||||||rs10673716||-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.281+1378_281+1379insAAT|||||||rs10673716||-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs10673716|30|-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.549+1378_549+1379insAAT|||||||rs10673716||-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.192+1378_192+1379insAAT|||||||rs10673716||-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.313+1378_313+1379insAAT|||||||rs10673716||-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-2042_198-2041insAAT|||||||rs10673716||-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.269+1378_269+1379insAAT|||||||rs10673716||-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.266+1378_266+1379insAAT|||||||rs10673716||-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs10673716|25|-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs10673716|36|-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs10673716|297|-1||||||||||||Ensembl|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs10673716|1281|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs10673716|1281|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs10673716|1281|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs10673716|1281|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs10673716|1281|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq|||||||chrX:g.2817782_2817783insTTA|||||||||||||,ATT|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs10673716|1281|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq|||||||chrX:g.2817782_2817783insTTA|||||||||||||;TYPE=INDEL;VEP_Allele=ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT,ATT;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=104303;gnomADv4_1_AC_joint_XX=73098;gnomADv4_1_AC_joint_XY=31205;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.942196;gnomADv4_1_AF_joint_XX=0.940095;gnomADv4_1_AF_joint_XY=0.947156;gnomADv4_1_AN_grpmax_joint=3534;gnomADv4_1_AN_joint=110702;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=32946;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34642;gnomADv4_1_nhomalt_joint_XX=34642;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2817885 chrX_2817885_G_A G A 60 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=60;CADD_PHREDscore=1.218;CADD_Rawscore=0.033519;CSQ=A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs6642031|1958|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs6642031|3438|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs6642031|3438|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs6642031|1385|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-2145C>T|||||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+1275C>T|||||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+6125C>T|||||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+6125C>T|||||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-2145C>T|||||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.168+1275C>T|||||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.243+1275C>T|||||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.201+6125C>T|||||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+1275C>T|||||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.281+1275C>T|||||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA|4/4||ENST00000810827.1:n.588C>T||588|||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.549+1275C>T|||||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.192+1275C>T|||||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.313+1275C>T|||||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-2145C>T|||||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.269+1275C>T|||||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.266+1275C>T|||||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA|3/3||ENST00000810834.1:n.348C>T||348|||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA|3/3||ENST00000810835.1:n.438C>T||438|||||rs6642031||-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs6642031|194|-1||||||||||||Ensembl||G|G||||chrX:g.2817885G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs6642031|1385|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2817885G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs6642031|1385|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2817885G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs6642031|1385|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2817885G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs6642031|1385|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2817885G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs6642031|1385|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2817885G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs6642031|1385|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2817885G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62324;gnomADv4_1_AC_joint_XX=43985;gnomADv4_1_AC_joint_XY=18339;gnomADv4_1_AF_grpmax_joint=0.727435;gnomADv4_1_AF_joint=0.564575;gnomADv4_1_AF_joint_XX=0.566088;gnomADv4_1_AF_joint_XY=0.56098;gnomADv4_1_AN_grpmax_joint=52813;gnomADv4_1_AN_joint=110391;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=32691;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14136;gnomADv4_1_nhomalt_joint_XX=14136;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2818079 chrX_2818079_TATTA_T TATTA T 51 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADDIndel_PHREDscore=1.05;CADDIndel_Rawscore=-0.005065;CSQ=-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs35714686|2153|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs35714686|3633|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs35714686|3633|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs35714686|1580|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-2343_233-2340del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+1077_321+1080del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+5927_209+5930del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+5927_197+5930del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-2343_184-2340del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.168+1077_168+1080del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.243+1077_243+1080del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.201+5927_201+5930del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+1077_284+1080del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.281+1077_281+1080del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||3/3|ENST00000810827.1:n.574-184_574-181del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.549+1077_549+1080del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.192+1077_192+1080del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.313+1077_313+1080del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-2343_198-2340del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.269+1077_269+1080del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.266+1077_266+1080del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||2/2|ENST00000810834.1:n.334-184_334-181del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||2/2|ENST00000810835.1:n.424-184_424-181del|||||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA|3/3||ENST00000810836.1:n.727_730del||727-730|||||rs35714686||-1||||||||||||Ensembl||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs35714686|1580|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs35714686|1580|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs35714686|1580|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs35714686|1580|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs35714686|1580|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs35714686|1580|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||ATTA|ATTA||||chrX:g.2818083_2818086del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61916;gnomADv4_1_AC_joint_XX=44105;gnomADv4_1_AC_joint_XY=17811;gnomADv4_1_AF_grpmax_joint=0.723398;gnomADv4_1_AF_joint=0.562433;gnomADv4_1_AF_joint_XX=0.567763;gnomADv4_1_AF_joint_XY=0.549654;gnomADv4_1_AN_grpmax_joint=52646;gnomADv4_1_AN_joint=110086;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=32404;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14144;gnomADv4_1_nhomalt_joint_XX=14144;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2818155 chrX_2818155_C_A C A 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.471;CADD_Rawscore=-0.20829;CSQ=A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs5939126|2228|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs5939126|3708|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs5939126|3708|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs5939126|1655|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-2415G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+1005G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+5855G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+5855G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-2415G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.168+1005G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.243+1005G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.201+5855G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+1005G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.281+1005G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||3/3|ENST00000810827.1:n.574-256G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.549+1005G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.192+1005G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.313+1005G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-2415G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.269+1005G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.266+1005G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||2/2|ENST00000810834.1:n.334-256G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||2/2|ENST00000810835.1:n.424-256G>T|||||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA|3/3||ENST00000810836.1:n.655G>T||655|||||rs5939126||-1||||||||||||Ensembl||C|C||||chrX:g.2818155C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs5939126|1655|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2818155C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs5939126|1655|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2818155C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs5939126|1655|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2818155C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs5939126|1655|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2818155C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs5939126|1655|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2818155C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs5939126|1655|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2818155C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62575;gnomADv4_1_AC_joint_XX=44191;gnomADv4_1_AC_joint_XY=18384;gnomADv4_1_AF_grpmax_joint=0.725132;gnomADv4_1_AF_joint=0.5665;gnomADv4_1_AF_joint_XX=0.568695;gnomADv4_1_AF_joint_XY=0.561292;gnomADv4_1_AN_grpmax_joint=52818;gnomADv4_1_AN_joint=110459;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=32753;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14186;gnomADv4_1_nhomalt_joint_XX=14186;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2819056 chrX_2819056_G_A G A 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=3.609;CADD_Rawscore=0.330507;CSQ=A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs6567653|3129|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs6567653|4609|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs6567653|4609|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs6567653|2556|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-3316C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+104C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+4954C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+4954C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-3316C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.168+104C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.243+104C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.201+4954C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+104C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.281+104C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||3/3|ENST00000810827.1:n.573+104C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.549+104C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.192+104C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.313+104C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-3316C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.269+104C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.266+104C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||2/2|ENST00000810834.1:n.333+104C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||2/2|ENST00000810835.1:n.423+104C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||2/2|ENST00000810836.1:n.340+104C>T|||||||rs6567653||-1||||||||||||Ensembl||G|G||||chrX:g.2819056G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs6567653|2556|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2819056G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs6567653|2556|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2819056G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs6567653|2556|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2819056G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs6567653|2556|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2819056G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs6567653|2556|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2819056G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs6567653|2556|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2819056G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62587;gnomADv4_1_AC_joint_XX=44006;gnomADv4_1_AC_joint_XY=18581;gnomADv4_1_AF_grpmax_joint=0.724683;gnomADv4_1_AF_joint=0.56341;gnomADv4_1_AF_joint_XX=0.566212;gnomADv4_1_AF_joint_XY=0.556884;gnomADv4_1_AN_grpmax_joint=52801;gnomADv4_1_AN_joint=111086;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=33366;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14109;gnomADv4_1_nhomalt_joint_XX=14109;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2819153 chrX_2819153_C_T C T 53 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=1.405;CADD_Rawscore=0.07094;CSQ=T|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs5982869|3226|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs5982869|4706|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs5982869|4706|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs5982869|2653|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-3413G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|splice_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000305418|Transcript|ENST00000810818|lncRNA||2/2|ENST00000810818.1:n.321+7G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+4857G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+4857G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-3413G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|splice_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000305418|Transcript|ENST00000810822|lncRNA||2/3|ENST00000810822.1:n.168+7G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|splice_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000305418|Transcript|ENST00000810823|lncRNA||2/2|ENST00000810823.1:n.243+7G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.201+4857G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|splice_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000305418|Transcript|ENST00000810825|lncRNA||2/2|ENST00000810825.1:n.284+7G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|splice_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000305418|Transcript|ENST00000810826|lncRNA||2/3|ENST00000810826.1:n.281+7G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|splice_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000305418|Transcript|ENST00000810827|lncRNA||3/3|ENST00000810827.1:n.573+7G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|splice_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000305418|Transcript|ENST00000810828|lncRNA||2/2|ENST00000810828.1:n.549+7G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|splice_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000305418|Transcript|ENST00000810829|lncRNA||2/2|ENST00000810829.1:n.192+7G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|splice_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000305418|Transcript|ENST00000810830|lncRNA||2/2|ENST00000810830.1:n.313+7G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-3413G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|splice_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000305418|Transcript|ENST00000810832|lncRNA||2/2|ENST00000810832.1:n.269+7G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|splice_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000305418|Transcript|ENST00000810833|lncRNA||2/2|ENST00000810833.1:n.266+7G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|splice_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000305418|Transcript|ENST00000810834|lncRNA||2/2|ENST00000810834.1:n.333+7G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|splice_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000305418|Transcript|ENST00000810835|lncRNA||2/2|ENST00000810835.1:n.423+7G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|splice_region_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000305418|Transcript|ENST00000810836|lncRNA||2/2|ENST00000810836.1:n.340+7G>A|||||||rs5982869||-1||||||||||||Ensembl||C|C||||chrX:g.2819153C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs5982869|2653|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2819153C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs5982869|2653|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2819153C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs5982869|2653|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2819153C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs5982869|2653|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2819153C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs5982869|2653|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2819153C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs5982869|2653|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2819153C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62601;gnomADv4_1_AC_joint_XX=44082;gnomADv4_1_AC_joint_XY=18519;gnomADv4_1_AF_grpmax_joint=0.72467;gnomADv4_1_AF_joint=0.564843;gnomADv4_1_AF_joint_XX=0.567015;gnomADv4_1_AF_joint_XY=0.55974;gnomADv4_1_AN_grpmax_joint=52853;gnomADv4_1_AN_joint=110829;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=33085;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14141;gnomADv4_1_nhomalt_joint_XX=14141;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2819426 chrX_2819426_C_CA C CA 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADDIndel_PHREDscore=1.371;CADDIndel_Rawscore=0.064465;CSQ=A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs34399106|3499|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000419513|protein_coding||||||||||rs34399106|4979|1||HGNC|HGNC:12806|1||ENSP00000411004||A0A2U3U020.27|UPI000D18BF9B|||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000509484|protein_coding||||||||||rs34399106|4979|1||HGNC|HGNC:12806|3||ENSP00000430005||E5RH28.61|UPI0005121023|||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs34399106|2926|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-3687dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||1/2|ENST00000810818.1:n.221-167dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+4583dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+4583dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-3687dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||1/3|ENST00000810822.1:n.68-167dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.143-167dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.201+4583dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||1/2|ENST00000810825.1:n.184-167dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||1/3|ENST00000810826.1:n.181-167dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||2/3|ENST00000810827.1:n.473-167dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||1/2|ENST00000810828.1:n.449-167dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||1/2|ENST00000810829.1:n.92-167dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||1/2|ENST00000810830.1:n.219-173dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-3687dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||1/2|ENST00000810832.1:n.171-169dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||1/2|ENST00000810833.1:n.166-167dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||1/2|ENST00000810834.1:n.233-167dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant&non_coding_transcript_variant|LOW||ENSG00000305418|Transcript|ENST00000810835|lncRNA||1/2|ENST00000810835.1:n.162-6dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||1/2|ENST00000810836.1:n.240-167dup|||||||rs34399106||-1||||||||||||Ensembl|||||||chrX:g.2819435dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs34399106|2926|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq|||||||chrX:g.2819435dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs34399106|2926|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq|||||||chrX:g.2819435dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs34399106|2926|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq|||||||chrX:g.2819435dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs34399106|2926|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq|||||||chrX:g.2819435dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs34399106|2926|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq|||||||chrX:g.2819435dup|||||||||||||,A|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs34399106|2926|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq|||||||chrX:g.2819435dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381174,ENST00000419513,ENST00000509484,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499;VEP_SYMBOL=XG,XG,XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58288;gnomADv4_1_AC_joint_XX=43582;gnomADv4_1_AC_joint_XY=14706;gnomADv4_1_AF_grpmax_joint=0.72189;gnomADv4_1_AF_joint=0.558282;gnomADv4_1_AF_joint_XX=0.56777;gnomADv4_1_AF_joint_XY=0.53194;gnomADv4_1_AN_grpmax_joint=50854;gnomADv4_1_AN_joint=104406;gnomADv4_1_AN_joint_XX=76760;gnomADv4_1_AN_joint_XY=27646;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13928;gnomADv4_1_nhomalt_joint_XX=13928;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2819495 chrX_2819495_A_G A G 58 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=1.963;CADD_Rawscore=0.158917;CSQ=G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs901320|3568|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs901320|2995|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-3755T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||1/2|ENST00000810818.1:n.221-235T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+4515T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+4515T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-3755T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||1/3|ENST00000810822.1:n.68-235T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.143-235T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.201+4515T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||1/2|ENST00000810825.1:n.184-235T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||1/3|ENST00000810826.1:n.181-235T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||2/3|ENST00000810827.1:n.473-235T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||1/2|ENST00000810828.1:n.449-235T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||1/2|ENST00000810829.1:n.92-235T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||1/2|ENST00000810830.1:n.219-241T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-3755T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||1/2|ENST00000810832.1:n.171-237T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||1/2|ENST00000810833.1:n.166-235T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||1/2|ENST00000810834.1:n.233-235T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||1/2|ENST00000810835.1:n.162-74T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||1/2|ENST00000810836.1:n.240-235T>C|||||||rs901320||-1||||||||||||Ensembl||A|A||||chrX:g.2819495A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs901320|2995|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||A|A||||chrX:g.2819495A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs901320|2995|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||A|A||||chrX:g.2819495A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs901320|2995|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||A|A||||chrX:g.2819495A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs901320|2995|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||A|A||||chrX:g.2819495A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs901320|2995|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||A|A||||chrX:g.2819495A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs901320|2995|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||A|A||||chrX:g.2819495A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_9357T|enhancer||||||||||rs901320|||||||||||||||||||||chrX:g.2819495A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381174,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3,ENSRX_9357T;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499,.;VEP_SYMBOL=XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=101047;gnomADv4_1_AC_joint_XX=71701;gnomADv4_1_AC_joint_XY=29346;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.923799;gnomADv4_1_AF_joint_XX=0.922223;gnomADv4_1_AF_joint_XY=0.927673;gnomADv4_1_AN_grpmax_joint=3462;gnomADv4_1_AN_joint=109382;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=31634;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=33564;gnomADv4_1_nhomalt_joint_XX=33564;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2819792 chrX_2819792_TC_T TC T 51 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADDIndel_PHREDscore=0.361;CADDIndel_Rawscore=-0.275058;CSQ=-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs34306434|3866|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs34306434|3293|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-4053del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||1/2|ENST00000810818.1:n.221-533del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+4217del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+4217del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-4053del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||1/3|ENST00000810822.1:n.68-533del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.143-533del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.201+4217del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||1/2|ENST00000810825.1:n.184-533del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||1/3|ENST00000810826.1:n.181-533del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||2/3|ENST00000810827.1:n.473-533del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||1/2|ENST00000810828.1:n.449-533del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||1/2|ENST00000810829.1:n.92-533del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||1/2|ENST00000810830.1:n.219-539del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-4053del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||1/2|ENST00000810832.1:n.171-535del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||1/2|ENST00000810833.1:n.166-533del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||1/2|ENST00000810834.1:n.233-533del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||1/2|ENST00000810835.1:n.162-372del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||1/2|ENST00000810836.1:n.240-533del|||||||rs34306434||-1||||||||||||Ensembl||C|C||||chrX:g.2819793del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs34306434|3293|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||C|C||||chrX:g.2819793del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs34306434|3293|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||C|C||||chrX:g.2819793del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs34306434|3293|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||C|C||||chrX:g.2819793del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs34306434|3293|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||C|C||||chrX:g.2819793del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs34306434|3293|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||C|C||||chrX:g.2819793del|||||||||||||,-|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs34306434|3293|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||C|C||||chrX:g.2819793del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_9357T|enhancer||||||||||rs34306434|||||||||||||||||||||chrX:g.2819793del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381174,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3,ENSRX_9357T;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499,.;VEP_SYMBOL=XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61718;gnomADv4_1_AC_joint_XX=43780;gnomADv4_1_AC_joint_XY=17938;gnomADv4_1_AF_grpmax_joint=0.724137;gnomADv4_1_AF_joint=0.5598;gnomADv4_1_AF_joint_XX=0.563188;gnomADv4_1_AF_joint_XY=0.551701;gnomADv4_1_AN_grpmax_joint=52711;gnomADv4_1_AN_joint=110250;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=32514;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14054;gnomADv4_1_nhomalt_joint_XX=14054;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2819810 chrX_2819810_G_T G T 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=0.36;CADD_Rawscore=-0.276015;CSQ=T|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000381174|protein_coding||||||||||rs5939128|3883|1||HGNC|HGNC:12806|1|CCDS14120.1|ENSP00000370566|P55808.160||UPI0000001728|P55808-1||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|ENSG00000124343|Transcript|ENST00000644266|protein_coding||||||||||rs5939128|3310|1||HGNC|HGNC:12806||CCDS48073.1|ENSP00000494087|P55808.160||UPI0000D61D1F|P55808-3||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.233-4070C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||1/2|ENST00000810818.1:n.221-550C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+4200C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+4200C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.184-4070C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||1/3|ENST00000810822.1:n.68-550C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.143-550C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.201+4200C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||1/2|ENST00000810825.1:n.184-550C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||1/3|ENST00000810826.1:n.181-550C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||2/3|ENST00000810827.1:n.473-550C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||1/2|ENST00000810828.1:n.449-550C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||1/2|ENST00000810829.1:n.92-550C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||1/2|ENST00000810830.1:n.219-556C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.198-4070C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||1/2|ENST00000810832.1:n.171-552C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||1/2|ENST00000810833.1:n.166-550C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||1/2|ENST00000810834.1:n.233-550C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||1/2|ENST00000810835.1:n.162-389C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||1/2|ENST00000810836.1:n.240-550C>A|||||||rs5939128||-1||||||||||||Ensembl||G|G||||chrX:g.2819810G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141919.2|protein_coding||||||||||rs5939128|3310|1||EntrezGene|HGNC:12806|||NP_001135391.1||||||RefSeq||G|G||||chrX:g.2819810G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_001141920.2|protein_coding||||||||||rs5939128|3310|1||EntrezGene|HGNC:12806|||NP_001135392.1||||||RefSeq||G|G||||chrX:g.2819810G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|7499|Transcript|NM_175569.3|protein_coding||||||||||rs5939128|3310|1||EntrezGene|HGNC:12806|||NP_780778.1||||||RefSeq||G|G||||chrX:g.2819810G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_005274587.5|protein_coding||||||||||rs5939128|3310|1||EntrezGene|HGNC:12806|||XP_005274644.1||||||RefSeq||G|G||||chrX:g.2819810G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_011545575.4|protein_coding||||||||||rs5939128|3310|1||EntrezGene|HGNC:12806|||XP_011543877.1||||||RefSeq||G|G||||chrX:g.2819810G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|XG|7499|Transcript|XM_017029787.3|protein_coding||||||||||rs5939128|3310|1||EntrezGene|HGNC:12806|||XP_016885276.1||||||RefSeq||G|G||||chrX:g.2819810G>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_9357T|enhancer||||||||||rs5939128|||||||||||||||||||||chrX:g.2819810G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381174,ENST00000644266,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001141919.2,NM_001141920.2,NM_175569.3,XM_005274587.5,XM_011545575.4,XM_017029787.3,ENSRX_9357T;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000124343,ENSG00000124343,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,7499,7499,7499,7499,7499,7499,.;VEP_SYMBOL=XG,XG,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,XG,XG,XG,XG,XG,XG,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=63424;gnomADv4_1_AC_joint_XX=45056;gnomADv4_1_AC_joint_XY=18368;gnomADv4_1_AF_grpmax_joint=0.749297;gnomADv4_1_AF_joint=0.577049;gnomADv4_1_AF_joint_XX=0.579841;gnomADv4_1_AF_joint_XY=0.570311;gnomADv4_1_AN_grpmax_joint=52616;gnomADv4_1_AN_joint=109911;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=32207;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14956;gnomADv4_1_nhomalt_joint_XX=14956;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2822282 chrX_2822282_G_T G T 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=0.084;CADD_Rawscore=-0.657443;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.232+1728C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||1/2|ENST00000810818.1:n.220+1728C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+1728C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+1728C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.183+1728C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||1/3|ENST00000810822.1:n.67+1728C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.143-3022C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.201+1728C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||1/2|ENST00000810825.1:n.183+1728C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||1/3|ENST00000810826.1:n.180+1728C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||2/3|ENST00000810827.1:n.473-3022C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||1/2|ENST00000810828.1:n.448+1728C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||1/2|ENST00000810829.1:n.91+1981C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||1/2|ENST00000810830.1:n.218+1728C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.197+1728C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||1/2|ENST00000810832.1:n.170+1728C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||1/2|ENST00000810833.1:n.165+1728C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||1/2|ENST00000810834.1:n.232+1728C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||1/2|ENST00000810835.1:n.161+1728C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||1/2|ENST00000810836.1:n.239+1728C>A|||||||rs5939346||-1||||||||||||Ensembl||G|G||||chrX:g.2822282G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=76686;gnomADv4_1_AC_joint_XX=54362;gnomADv4_1_AC_joint_XY=22324;gnomADv4_1_AF_grpmax_joint=0.794067;gnomADv4_1_AF_joint=0.698702;gnomADv4_1_AF_joint_XX=0.69955;gnomADv4_1_AF_joint_XY=0.696645;gnomADv4_1_AN_grpmax_joint=3472;gnomADv4_1_AN_joint=109755;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=32045;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19713;gnomADv4_1_nhomalt_joint_XX=19713;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2822640 chrX_2822640_G_C G C 58 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=0.799;CADD_Rawscore=-0.075356;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.232+1370C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||1/2|ENST00000810818.1:n.220+1370C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+1370C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+1370C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.183+1370C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||1/3|ENST00000810822.1:n.67+1370C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.143-3380C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.201+1370C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||1/2|ENST00000810825.1:n.183+1370C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||1/3|ENST00000810826.1:n.180+1370C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||2/3|ENST00000810827.1:n.472+3000C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||1/2|ENST00000810828.1:n.448+1370C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||1/2|ENST00000810829.1:n.91+1623C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||1/2|ENST00000810830.1:n.218+1370C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.197+1370C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||1/2|ENST00000810832.1:n.170+1370C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||1/2|ENST00000810833.1:n.165+1370C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||1/2|ENST00000810834.1:n.232+1370C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||1/2|ENST00000810835.1:n.161+1370C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||1/2|ENST00000810836.1:n.239+1370C>G|||||||rs6641652||-1||||||||||||Ensembl||G|G||||chrX:g.2822640G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62907;gnomADv4_1_AC_joint_XX=44841;gnomADv4_1_AC_joint_XY=18066;gnomADv4_1_AF_grpmax_joint=0.70413;gnomADv4_1_AF_joint=0.572413;gnomADv4_1_AF_joint_XX=0.577164;gnomADv4_1_AF_joint_XY=0.560951;gnomADv4_1_AN_grpmax_joint=52621;gnomADv4_1_AN_joint=109898;gnomADv4_1_AN_joint_XX=77692;gnomADv4_1_AN_joint_XY=32206;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=14023;gnomADv4_1_nhomalt_joint_XX=14023;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2822850 chrX_2822850_C_T C T 51 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=0.663;CADD_Rawscore=-0.122505;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.232+1160G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||1/2|ENST00000810818.1:n.220+1160G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+1160G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+1160G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.183+1160G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||1/3|ENST00000810822.1:n.67+1160G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.143-3590G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.201+1160G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||1/2|ENST00000810825.1:n.183+1160G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||1/3|ENST00000810826.1:n.180+1160G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||2/3|ENST00000810827.1:n.472+2790G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||1/2|ENST00000810828.1:n.448+1160G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||1/2|ENST00000810829.1:n.91+1413G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||1/2|ENST00000810830.1:n.218+1160G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.197+1160G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||1/2|ENST00000810832.1:n.170+1160G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||1/2|ENST00000810833.1:n.165+1160G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||1/2|ENST00000810834.1:n.232+1160G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||1/2|ENST00000810835.1:n.161+1160G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||1/2|ENST00000810836.1:n.239+1160G>A|||||||rs3828931||-1||||||||||||Ensembl||C|C||||chrX:g.2822850C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57292;gnomADv4_1_AC_joint_XX=41506;gnomADv4_1_AC_joint_XY=15786;gnomADv4_1_AF_grpmax_joint=0.702476;gnomADv4_1_AF_joint=0.53088;gnomADv4_1_AF_joint_XX=0.535465;gnomADv4_1_AF_joint_XY=0.519191;gnomADv4_1_AN_grpmax_joint=51979;gnomADv4_1_AN_joint=107919;gnomADv4_1_AN_joint_XX=77514;gnomADv4_1_AN_joint_XY=30405;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13061;gnomADv4_1_nhomalt_joint_XX=13061;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2823003 chrX_2823003_C_A C A 45 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADD_PHREDscore=0.702;CADD_Rawscore=-0.108361;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.232+1007G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||1/2|ENST00000810818.1:n.220+1007G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+1007G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+1007G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.183+1007G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||1/3|ENST00000810822.1:n.67+1007G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.143-3743G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.201+1007G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||1/2|ENST00000810825.1:n.183+1007G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||1/3|ENST00000810826.1:n.180+1007G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||2/3|ENST00000810827.1:n.472+2637G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||1/2|ENST00000810828.1:n.448+1007G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||1/2|ENST00000810829.1:n.91+1260G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||1/2|ENST00000810830.1:n.218+1007G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.197+1007G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||1/2|ENST00000810832.1:n.170+1007G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||1/2|ENST00000810833.1:n.165+1007G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||1/2|ENST00000810834.1:n.232+1007G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||1/2|ENST00000810835.1:n.161+1007G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||1/2|ENST00000810836.1:n.239+1007G>T|||||||rs5939129||-1||||||||||||Ensembl||C|C||||chrX:g.2823003C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87295;gnomADv4_1_AC_joint_XX=66694;gnomADv4_1_AC_joint_XY=20601;gnomADv4_1_AF_grpmax_joint=0.999362;gnomADv4_1_AF_joint=0.88887;gnomADv4_1_AF_joint_XX=0.889894;gnomADv4_1_AF_joint_XY=0.885569;gnomADv4_1_AN_grpmax_joint=3136;gnomADv4_1_AN_joint=98209;gnomADv4_1_AN_joint_XX=74946;gnomADv4_1_AN_joint_XY=23263;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=30770;gnomADv4_1_nhomalt_joint_XX=30770;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2823037 chrX_2823037_C_T C T 38 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=38;CADD_PHREDscore=1.348;CADD_Rawscore=0.060001;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||1/2|ENST00000810817.1:n.232+973G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||1/2|ENST00000810818.1:n.220+973G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||1/1|ENST00000810819.1:n.209+973G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||1/1|ENST00000810820.1:n.197+973G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||1/2|ENST00000810821.1:n.183+973G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||1/3|ENST00000810822.1:n.67+973G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.143-3777G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||1/1|ENST00000810824.1:n.201+973G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||1/2|ENST00000810825.1:n.183+973G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||1/3|ENST00000810826.1:n.180+973G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||2/3|ENST00000810827.1:n.472+2603G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||1/2|ENST00000810828.1:n.448+973G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||1/2|ENST00000810829.1:n.91+1226G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||1/2|ENST00000810830.1:n.218+973G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||1/1|ENST00000810831.1:n.197+973G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||1/2|ENST00000810832.1:n.170+973G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||1/2|ENST00000810833.1:n.165+973G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||1/2|ENST00000810834.1:n.232+973G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||1/2|ENST00000810835.1:n.161+973G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||1/2|ENST00000810836.1:n.239+973G>A|||||||rs73190969||-1||||||||||||Ensembl||C|C||||chrX:g.2823037C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418;VEP_SYMBOL=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15076;gnomADv4_1_AC_joint_XX=11329;gnomADv4_1_AC_joint_XY=3747;gnomADv4_1_AF_grpmax_joint=0.225239;gnomADv4_1_AF_joint=0.150766;gnomADv4_1_AF_joint_XX=0.15373;gnomADv4_1_AF_joint_XY=0.142461;gnomADv4_1_AN_grpmax_joint=49605;gnomADv4_1_AN_joint=99996;gnomADv4_1_AN_joint_XX=73694;gnomADv4_1_AN_joint_XY=26302;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1172;gnomADv4_1_nhomalt_joint_XX=1172;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2824077 chrX_2824077_G_A G A 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.478;CADD_Rawscore=-0.20465;CSQ=A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs5939130|4837|1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs5939130|4745|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs5939130|4853|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA|1/3||ENST00000810817.1:n.165C>T||165|||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA|1/3||ENST00000810818.1:n.153C>T||153|||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA|1/2||ENST00000810819.1:n.142C>T||142|||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA|1/2||ENST00000810820.1:n.130C>T||130|||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA|1/3||ENST00000810821.1:n.116C>T||116|||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs5939130|1|-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.142+4622C>T|||||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA|1/2||ENST00000810824.1:n.134C>T||134|||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA|1/3||ENST00000810825.1:n.116C>T||116|||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA|1/4||ENST00000810826.1:n.113C>T||113|||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||2/3|ENST00000810827.1:n.472+1563C>T|||||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA|1/3||ENST00000810828.1:n.381C>T||381|||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||1/2|ENST00000810829.1:n.91+186C>T|||||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA|1/3||ENST00000810830.1:n.151C>T||151|||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA|1/2||ENST00000810831.1:n.130C>T||130|||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA|1/3||ENST00000810832.1:n.103C>T||103|||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA|1/3||ENST00000810833.1:n.98C>T||98|||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA|1/3||ENST00000810834.1:n.165C>T||165|||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA|1/3||ENST00000810835.1:n.94C>T||94|||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA|1/3||ENST00000810836.1:n.172C>T||172|||||rs5939130||-1||||||||||||Ensembl||G|G||||chrX:g.2824077G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs5939130|4853|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2824077G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs5939130|4853|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2824077G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs5939130|4853|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2824077G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs5939130|4853|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2824077G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs5939130|4853|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2824077G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs5939130|4853|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2824077G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs5939130|4853|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2824077G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs5939130|4853|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2824077G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs5939130|4853|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2824077G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs5939130|4853|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2824077G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs5939130|4853|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2824077G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs5939130|4853|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2824077G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381161,ENST00000381163,ENST00000398806,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=100182;gnomADv4_1_AC_joint_XX=71190;gnomADv4_1_AC_joint_XY=28992;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.918604;gnomADv4_1_AF_joint_XX=0.916098;gnomADv4_1_AF_joint_XY=0.924814;gnomADv4_1_AN_grpmax_joint=3449;gnomADv4_1_AN_joint=109059;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=31349;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=33194;gnomADv4_1_nhomalt_joint_XX=33194;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2825018 chrX_2825018_TTCA_T TTCA T 50 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADDIndel_PHREDscore=0.136;CADDIndel_Rawscore=-0.528864;CSQ=-|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs10561126|3893|1||HGNC|HGNC:4700|2||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs10561126|3801|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs10561126|3909|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs10561126|4251|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs10561126|778|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs10561126|790|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs10561126|801|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs10561126|813|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs10561126|827|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs10561126|943|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.142+3678_142+3680del|||||||rs10561126||-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs10561126|809|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs10561126|827|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs10561126|830|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||2/3|ENST00000810827.1:n.472+619_472+621del|||||||rs10561126||-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs10561126|562|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs10561126|666|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs10561126|792|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs10561126|813|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs10561126|840|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs10561126|845|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs10561126|778|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs10561126|849|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs10561126|771|-1||||||||||||Ensembl||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs10561126|3909|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs10561126|3909|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs10561126|3909|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs10561126|3909|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs10561126|3909|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs10561126|4248|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs10561126|4248|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs10561126|3909|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs10561126|3909|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs10561126|3909|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs10561126|4248|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs10561126|3909|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs10561126|3909|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs10561126|3909|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs10561126|4248|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs10561126|4248|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs10561126|3909|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||TCA|TCA||||chrX:g.2825043_2825045del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381161,ENST00000381163,ENST00000398806,ENST00000520904,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59390;gnomADv4_1_AC_joint_XX=44095;gnomADv4_1_AC_joint_XY=15295;gnomADv4_1_AF_grpmax_joint=0.694326;gnomADv4_1_AF_joint=0.560717;gnomADv4_1_AF_joint_XX=0.570839;gnomADv4_1_AF_joint_XY=0.533447;gnomADv4_1_AN_grpmax_joint=51218;gnomADv4_1_AN_joint=105918;gnomADv4_1_AN_joint_XX=77246;gnomADv4_1_AN_joint_XY=28672;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13740;gnomADv4_1_nhomalt_joint_XX=13740;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2825586 chrX_2825586_C_A C A 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.583;CADD_Rawscore=-0.154933;CSQ=A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs5982588|4603|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs5982588|3328|1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs5982588|3236|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs5982588|3344|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs5982588|4475|1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs5982588|3686|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs5982588|1345|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs5982588|1357|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs5982588|1368|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs5982588|1380|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs5982588|1394|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs5982588|1510|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.142+3113G>T|||||||rs5982588||-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs5982588|1376|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs5982588|1394|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs5982588|1397|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||2/3|ENST00000810827.1:n.472+54G>T|||||||rs5982588||-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs5982588|1129|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs5982588|1233|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs5982588|1359|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs5982588|1380|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs5982588|1407|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs5982588|1412|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs5982588|1345|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs5982588|1416|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs5982588|1338|-1||||||||||||Ensembl||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs5982588|3344|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs5982588|3344|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs5982588|3344|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs5982588|3344|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs5982588|3344|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs5982588|3683|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs5982588|3683|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs5982588|3344|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs5982588|3344|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs5982588|3344|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs5982588|3683|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs5982588|3344|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs5982588|3344|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs5982588|3344|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs5982588|3683|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs5982588|3683|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2825586C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs5982588|3344|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2825586C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88657;gnomADv4_1_AC_joint_XX=62028;gnomADv4_1_AC_joint_XY=26629;gnomADv4_1_AF_grpmax_joint=0.936418;gnomADv4_1_AF_joint=0.798971;gnomADv4_1_AF_joint_XX=0.797316;gnomADv4_1_AF_joint_XY=0.802852;gnomADv4_1_AN_grpmax_joint=52971;gnomADv4_1_AN_joint=110964;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=33168;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26166;gnomADv4_1_nhomalt_joint_XX=26166;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2825620 chrX_2825620_G_A G A 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.16;CADD_Rawscore=-0.485482;CSQ=A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs5982589|4569|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs5982589|3294|1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs5982589|3202|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs5982589|3310|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs5982589|4441|1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs5982589|3652|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs5982589|1379|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs5982589|1391|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs5982589|1402|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs5982589|1414|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs5982589|1428|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs5982589|1544|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.142+3079C>T|||||||rs5982589||-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs5982589|1410|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs5982589|1428|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs5982589|1431|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||2/3|ENST00000810827.1:n.472+20C>T|||||||rs5982589||-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs5982589|1163|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs5982589|1267|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs5982589|1393|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs5982589|1414|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs5982589|1441|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs5982589|1446|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs5982589|1379|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs5982589|1450|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs5982589|1372|-1||||||||||||Ensembl||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs5982589|3310|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs5982589|3310|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs5982589|3310|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs5982589|3310|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs5982589|3310|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs5982589|3649|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs5982589|3649|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs5982589|3310|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs5982589|3310|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs5982589|3310|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs5982589|3649|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs5982589|3310|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs5982589|3310|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs5982589|3310|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs5982589|3649|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs5982589|3649|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2825620G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs5982589|3310|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2825620G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88776;gnomADv4_1_AC_joint_XX=62001;gnomADv4_1_AC_joint_XY=26775;gnomADv4_1_AF_grpmax_joint=0.936527;gnomADv4_1_AF_joint=0.798647;gnomADv4_1_AF_joint_XX=0.797051;gnomADv4_1_AF_joint_XY=0.802367;gnomADv4_1_AN_grpmax_joint=53062;gnomADv4_1_AN_joint=111158;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=33370;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26158;gnomADv4_1_nhomalt_joint_XX=26158;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2825913 chrX_2825913_C_T C T 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.233;CADD_Rawscore=-0.387461;CSQ=T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs5939347|4276|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs5939347|3001|1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs5939347|2909|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs5939347|3017|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs5939347|4148|1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs5939347|3359|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs5939347|1672|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs5939347|1684|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs5939347|1695|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs5939347|1707|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs5939347|1721|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs5939347|1837|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.142+2786G>A|||||||rs5939347||-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs5939347|1703|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs5939347|1721|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs5939347|1724|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA|2/4||ENST00000810827.1:n.199G>A||199|||||rs5939347||-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs5939347|1456|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs5939347|1560|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs5939347|1686|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs5939347|1707|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs5939347|1734|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs5939347|1739|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs5939347|1672|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs5939347|1743|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs5939347|1665|-1||||||||||||Ensembl||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs5939347|3017|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs5939347|3017|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs5939347|3017|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs5939347|3017|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs5939347|3017|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs5939347|3356|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs5939347|3356|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs5939347|3017|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs5939347|3017|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs5939347|3017|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs5939347|3356|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs5939347|3017|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs5939347|3017|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs5939347|3017|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs5939347|3356|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs5939347|3356|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2825913C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs5939347|3017|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2825913C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88483;gnomADv4_1_AC_joint_XX=61996;gnomADv4_1_AC_joint_XY=26487;gnomADv4_1_AF_grpmax_joint=0.936191;gnomADv4_1_AF_joint=0.79792;gnomADv4_1_AF_joint_XX=0.79713;gnomADv4_1_AF_joint_XY=0.799777;gnomADv4_1_AN_grpmax_joint=52939;gnomADv4_1_AN_joint=110892;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=33118;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26160;gnomADv4_1_nhomalt_joint_XX=26160;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2826361 chrX_2826361_A_G A G 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=1.186;CADD_Rawscore=0.026471;CSQ=G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs1017917|3828|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs1017917|2553|1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs1017917|2461|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs1017917|2569|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs1017917|3700|1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs1017917|2911|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs1017917|2120|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs1017917|2132|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs1017917|2143|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs1017917|2155|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs1017917|2169|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs1017917|2285|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.142+2338T>C|||||||rs1017917||-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs1017917|2151|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs1017917|2169|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs1017917|2172|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||1/3|ENST00000810827.1:n.127-376T>C|||||||rs1017917||-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs1017917|1904|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs1017917|2008|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs1017917|2134|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs1017917|2155|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs1017917|2182|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs1017917|2187|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs1017917|2120|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs1017917|2191|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs1017917|2113|-1||||||||||||Ensembl||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs1017917|2569|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs1017917|2569|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs1017917|2569|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs1017917|2569|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs1017917|2569|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs1017917|2908|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs1017917|2908|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs1017917|2569|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs1017917|2569|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs1017917|2569|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs1017917|2908|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs1017917|2569|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs1017917|2569|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs1017917|2569|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs1017917|2908|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs1017917|2908|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2826361A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs1017917|2569|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2826361A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65761;gnomADv4_1_AC_joint_XX=46406;gnomADv4_1_AC_joint_XY=19355;gnomADv4_1_AF_grpmax_joint=0.750743;gnomADv4_1_AF_joint=0.594133;gnomADv4_1_AF_joint_XX=0.5968;gnomADv4_1_AF_joint_XY=0.587833;gnomADv4_1_AN_grpmax_joint=52825;gnomADv4_1_AN_joint=110684;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=32926;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15446;gnomADv4_1_nhomalt_joint_XX=15446;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2826724 chrX_2826724_C_T C T 57 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=57;CADD_PHREDscore=0.192;CADD_Rawscore=-0.438208;CSQ=T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs5982872|3465|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs5982872|2190|1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs5982872|2098|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs5982872|2206|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs5982872|3337|1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs5982872|2548|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs5982872|2483|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs5982872|2495|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs5982872|2506|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs5982872|2518|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs5982872|2532|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs5982872|2648|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.142+1975G>A|||||||rs5982872||-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs5982872|2514|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs5982872|2532|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs5982872|2535|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||1/3|ENST00000810827.1:n.127-739G>A|||||||rs5982872||-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs5982872|2267|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs5982872|2371|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs5982872|2497|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs5982872|2518|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs5982872|2545|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs5982872|2550|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs5982872|2483|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs5982872|2554|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs5982872|2476|-1||||||||||||Ensembl||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs5982872|2206|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs5982872|2206|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs5982872|2206|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs5982872|2206|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs5982872|2206|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs5982872|2545|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs5982872|2545|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs5982872|2206|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs5982872|2206|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs5982872|2206|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs5982872|2545|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs5982872|2206|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs5982872|2206|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs5982872|2206|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs5982872|2545|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs5982872|2545|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2826724C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs5982872|2206|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2826724C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=67238;gnomADv4_1_AC_joint_XX=47609;gnomADv4_1_AC_joint_XY=19629;gnomADv4_1_AF_grpmax_joint=0.744684;gnomADv4_1_AF_joint=0.610494;gnomADv4_1_AF_joint_XX=0.612902;gnomADv4_1_AF_joint_XY=0.604732;gnomADv4_1_AN_grpmax_joint=52723;gnomADv4_1_AN_joint=110137;gnomADv4_1_AN_joint_XX=77678;gnomADv4_1_AN_joint_XY=32459;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15776;gnomADv4_1_nhomalt_joint_XX=15776;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2827070 chrX_2827070_A_C A C 25 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.333333;AF_XX=0.0;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=25;CADD_PHREDscore=2.142;CADD_Rawscore=0.182169;CSQ=C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs62582284|3119|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs62582284|1844|1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs62582284|1752|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs62582284|1860|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs62582284|2991|1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs62582284|2202|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs62582284|2829|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs62582284|2841|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs62582284|2852|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs62582284|2864|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs62582284|2878|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs62582284|2994|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.142+1629T>G|||||||rs62582284||-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs62582284|2860|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs62582284|2878|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs62582284|2881|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||1/3|ENST00000810827.1:n.127-1085T>G|||||||rs62582284||-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs62582284|2613|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs62582284|2717|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs62582284|2843|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs62582284|2864|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs62582284|2891|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs62582284|2896|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs62582284|2829|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs62582284|2900|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs62582284|2822|-1||||||||||||Ensembl||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs62582284|1860|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs62582284|1860|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs62582284|1860|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs62582284|1860|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs62582284|1860|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs62582284|2199|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs62582284|2199|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs62582284|1860|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs62582284|1860|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs62582284|1860|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs62582284|2199|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs62582284|1860|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs62582284|1860|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs62582284|1860|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs62582284|2199|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs62582284|2199|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2827070A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs62582284|1860|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2827070A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2064;gnomADv4_1_AC_joint_XX=1366;gnomADv4_1_AC_joint_XY=698;gnomADv4_1_AF_grpmax_joint=0.186441;gnomADv4_1_AF_joint=0.0565201;gnomADv4_1_AF_joint_XX=0.0625802;gnomADv4_1_AF_joint_XY=0.0475153;gnomADv4_1_AN_grpmax_joint=59;gnomADv4_1_AN_joint=36518;gnomADv4_1_AN_joint_XX=21828;gnomADv4_1_AN_joint_XY=14690;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=178;gnomADv4_1_nhomalt_joint_XX=178;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2827078 chrX_2827078_C_A C A 25 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=0.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=25;CADD_PHREDscore=0.448;CADD_Rawscore=-0.220415;CSQ=A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs62582285|3111|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs62582285|1836|1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs62582285|1744|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs62582285|1852|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs62582285|2983|1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs62582285|2194|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs62582285|2837|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs62582285|2849|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs62582285|2860|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs62582285|2872|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs62582285|2886|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs62582285|3002|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.142+1621G>T|||||||rs62582285||-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs62582285|2868|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs62582285|2886|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs62582285|2889|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||1/3|ENST00000810827.1:n.127-1093G>T|||||||rs62582285||-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs62582285|2621|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs62582285|2725|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs62582285|2851|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs62582285|2872|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs62582285|2899|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs62582285|2904|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs62582285|2837|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs62582285|2908|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs62582285|2830|-1||||||||||||Ensembl||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs62582285|1852|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs62582285|1852|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs62582285|1852|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs62582285|1852|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs62582285|1852|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs62582285|2191|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs62582285|2191|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs62582285|1852|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs62582285|1852|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs62582285|1852|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs62582285|2191|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs62582285|1852|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs62582285|1852|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs62582285|1852|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs62582285|2191|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs62582285|2191|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2827078C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs62582285|1852|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2827078C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1873;gnomADv4_1_AC_joint_XX=1366;gnomADv4_1_AC_joint_XY=507;gnomADv4_1_AF_grpmax_joint=0.189655;gnomADv4_1_AF_joint=0.0526789;gnomADv4_1_AF_joint_XX=0.0632115;gnomADv4_1_AF_joint_XY=0.0363571;gnomADv4_1_AN_grpmax_joint=58;gnomADv4_1_AN_joint=35555;gnomADv4_1_AN_joint_XX=21610;gnomADv4_1_AN_joint_XY=13945;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=174;gnomADv4_1_nhomalt_joint_XX=174;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2827079 chrX_2827079_A_G A G 25 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=0.5;AF_XX=0.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=25;CADD_PHREDscore=0.159;CADD_Rawscore=-0.486581;CSQ=G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs62582286|3110|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs62582286|1835|1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs62582286|1743|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs62582286|1851|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs62582286|2982|1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs62582286|2193|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs62582286|2838|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs62582286|2850|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs62582286|2861|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs62582286|2873|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs62582286|2887|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs62582286|3003|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.142+1620T>C|||||||rs62582286||-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs62582286|2869|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs62582286|2887|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs62582286|2890|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||1/3|ENST00000810827.1:n.127-1094T>C|||||||rs62582286||-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs62582286|2622|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs62582286|2726|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs62582286|2852|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs62582286|2873|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs62582286|2900|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs62582286|2905|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs62582286|2838|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs62582286|2909|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs62582286|2831|-1||||||||||||Ensembl||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs62582286|1851|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs62582286|1851|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs62582286|1851|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs62582286|1851|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs62582286|1851|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs62582286|2190|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs62582286|2190|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs62582286|1851|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs62582286|1851|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs62582286|1851|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs62582286|2190|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs62582286|1851|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs62582286|1851|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs62582286|1851|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs62582286|2190|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs62582286|2190|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2827079A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs62582286|1851|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2827079A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1853;gnomADv4_1_AC_joint_XX=1369;gnomADv4_1_AC_joint_XY=484;gnomADv4_1_AF_grpmax_joint=0.183333;gnomADv4_1_AF_joint=0.0518249;gnomADv4_1_AF_joint_XX=0.0623293;gnomADv4_1_AF_joint_XY=0.0350954;gnomADv4_1_AN_grpmax_joint=60;gnomADv4_1_AN_joint=35755;gnomADv4_1_AN_joint_XX=21964;gnomADv4_1_AN_joint_XY=13791;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=173;gnomADv4_1_nhomalt_joint_XX=173;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2828517 chrX_2828517_T_C T C 57 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=57;CADD_PHREDscore=2.144;CADD_Rawscore=0.182434;CSQ=C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs2018631|1672|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs2018631|397|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs2018631|305|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs2018631|413|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs2018631|1544|1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs2018631|755|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs2018631|4276|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs2018631|4288|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs2018631|4299|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs2018631|4311|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs2018631|4325|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs2018631|4441|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||1/2|ENST00000810823.1:n.142+182A>G|||||||rs2018631||-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs2018631|4307|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs2018631|4325|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs2018631|4328|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||1/3|ENST00000810827.1:n.126+182A>G|||||||rs2018631||-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs2018631|4060|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs2018631|4164|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs2018631|4290|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs2018631|4311|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs2018631|4338|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs2018631|4343|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs2018631|4276|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs2018631|4347|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs2018631|4269|-1||||||||||||Ensembl||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs2018631|413|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs2018631|413|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs2018631|413|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs2018631|413|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs2018631|413|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs2018631|752|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs2018631|752|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs2018631|413|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs2018631|413|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs2018631|413|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs2018631|752|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs2018631|413|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs2018631|413|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs2018631|413|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs2018631|752|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs2018631|752|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2828517T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs2018631|413|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2828517T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_935BH|promoter||||||||||rs2018631|||||||||||||||||||||chrX:g.2828517T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1,ENSRX_935BH;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,.;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=103585;gnomADv4_1_AC_joint_XX=71369;gnomADv4_1_AC_joint_XY=32216;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.919383;gnomADv4_1_AF_joint_XX=0.91708;gnomADv4_1_AF_joint_XY=0.924525;gnomADv4_1_AN_grpmax_joint=3558;gnomADv4_1_AN_joint=112668;gnomADv4_1_AN_joint_XX=77822;gnomADv4_1_AN_joint_XY=34846;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=33301;gnomADv4_1_nhomalt_joint_XX=33301;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2828821 chrX_2828821_G_A G A 48 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=8.743;CADD_Rawscore=0.847723;CSQ=A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs901324|1368|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs901324|93|1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs901324|1|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs901324|109|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs901324|1240|1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs901324|451|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs901324|4580|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs901324|4592|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs901324|4603|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs901324|4615|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs901324|4629|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs901324|4745|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA|1/3||ENST00000810823.1:n.20C>T||20|||||rs901324||-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs901324|4611|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs901324|4629|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs901324|4632|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA|1/4||ENST00000810827.1:n.4C>T||4|||||rs901324||-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs901324|4364|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs901324|4468|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs901324|4594|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs901324|4615|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs901324|4642|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs901324|4647|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs901324|4580|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs901324|4651|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs901324|4573|-1||||||||||||Ensembl||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs901324|109|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs901324|109|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs901324|109|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs901324|109|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs901324|109|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs901324|448|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs901324|448|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs901324|109|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs901324|109|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs901324|109|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs901324|448|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs901324|109|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs901324|109|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs901324|109|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs901324|448|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs901324|448|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs901324|109|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2828821G>A|benign||1||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_935BH|promoter||||||||||rs901324|||||||||||||||||||||chrX:g.2828821G>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2828821G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=1227175;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1,ENSRX_935BH;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,.;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=90164;gnomADv4_1_AC_joint_XX=63085;gnomADv4_1_AC_joint_XY=27079;gnomADv4_1_AF_grpmax_joint=0.969072;gnomADv4_1_AF_joint=0.814571;gnomADv4_1_AF_joint_XX=0.812951;gnomADv4_1_AF_joint_XY=0.818369;gnomADv4_1_AN_grpmax_joint=52639;gnomADv4_1_AN_joint=110689;gnomADv4_1_AN_joint_XX=77600;gnomADv4_1_AN_joint_XY=33089;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=27409;gnomADv4_1_nhomalt_joint_XX=27409;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2828879 chrX_2828879_T_TG T TG 48 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADDIndel_PHREDscore=6.878;CADDIndel_Rawscore=0.644925;CSQ=G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs11376420|1309|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs11376420|34|1||HGNC|HGNC:4700|2||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|5_prime_UTR_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding|1/12||ENST00000381163.7:c.-223dup||58-59|||||rs11376420||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||2|chrX:g.2828881dup|||||||||0|0|0||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs11376420|50|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs11376420|1181|1||HGNC|HGNC:4700|3||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs11376420|392|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810817|lncRNA||||||||||rs11376420|4638|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810818|lncRNA||||||||||rs11376420|4650|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810819|lncRNA||||||||||rs11376420|4661|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810820|lncRNA||||||||||rs11376420|4673|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810821|lncRNA||||||||||rs11376420|4687|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810822|lncRNA||||||||||rs11376420|4803|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs11376420|39|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810824|lncRNA||||||||||rs11376420|4669|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810825|lncRNA||||||||||rs11376420|4687|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810826|lncRNA||||||||||rs11376420|4690|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs11376420|55|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810828|lncRNA||||||||||rs11376420|4422|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810829|lncRNA||||||||||rs11376420|4526|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810830|lncRNA||||||||||rs11376420|4652|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810831|lncRNA||||||||||rs11376420|4673|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810832|lncRNA||||||||||rs11376420|4700|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810833|lncRNA||||||||||rs11376420|4705|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810834|lncRNA||||||||||rs11376420|4638|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810835|lncRNA||||||||||rs11376420|4709|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810836|lncRNA||||||||||rs11376420|4631|-1||||||||||||Ensembl|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs11376420|50|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs11376420|50|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs11376420|50|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs11376420|50|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs11376420|50|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs11376420|389|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs11376420|389|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs11376420|50|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs11376420|50|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs11376420|50|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs11376420|389|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs11376420|50|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs11376420|50|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs11376420|50|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs11376420|389|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs11376420|389|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq|||||||chrX:g.2828881dup|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs11376420|50|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq|||||||chrX:g.2828881dup|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_935BH|promoter||||||||||rs11376420|||||||||||||||||||||chrX:g.2828881dup|||||||||||||;SpliceAI=TG|GYG2|0.00|0.00|0.00|0.00|30|-40|-45|-5;TYPE=INDEL;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810817,ENST00000810818,ENST00000810819,ENST00000810820,ENST00000810821,ENST00000810822,ENST00000810823,ENST00000810824,ENST00000810825,ENST00000810826,ENST00000810827,ENST00000810828,ENST00000810829,ENST00000810830,ENST00000810831,ENST00000810832,ENST00000810833,ENST00000810834,ENST00000810835,ENST00000810836,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1,ENSRX_935BH;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,.;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.;VEP_existing_InFrame_oORFs=.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=99198;gnomADv4_1_AC_joint_XX=69873;gnomADv4_1_AC_joint_XY=29325;gnomADv4_1_AF_grpmax_joint=0.999705;gnomADv4_1_AF_joint=0.902013;gnomADv4_1_AF_joint_XX=0.900286;gnomADv4_1_AF_joint_XY=0.906155;gnomADv4_1_AN_grpmax_joint=3391;gnomADv4_1_AN_joint=109974;gnomADv4_1_AN_joint_XX=77612;gnomADv4_1_AN_joint_XY=32362;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=32308;gnomADv4_1_nhomalt_joint_XX=32308;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2829473 chrX_2829473_C_T C T 41 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=41;CADD_PHREDscore=4.545;CADD_Rawscore=0.413984;CSQ=T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs7060444|716|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||1/7|ENST00000381161.5:n.62+498C>T|||||||rs7060444||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||1/11|ENST00000381163.7:c.-129+498C>T|||||||rs7060444||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||1/10|ENST00000398806.8:c.-129+498C>T|||||||rs7060444||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2829473C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs7060444|588|1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||1/4|ENST00000520904.3:c.-129+119C>T|||||||rs7060444||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2829473C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs7060444|633|-1||||||||||||Ensembl||C|C||||chrX:g.2829473C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs7060444|649|-1||||||||||||Ensembl||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||1/10|NM_001079855.2:c.-129+498C>T|||||||rs7060444||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||1/10|NM_001184702.2:c.-129+498C>T|||||||rs7060444||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||1/9|NM_001184703.2:c.-129+498C>T|||||||rs7060444||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||1/7|NM_001184704.2:c.-452+498C>T|||||||rs7060444||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||1/11|NM_003918.3:c.-129+498C>T|||||||rs7060444||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||1/10|XM_011545600.3:c.-129+119C>T|||||||rs7060444||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||1/11|XM_017029927.2:c.-129+119C>T|||||||rs7060444||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||1/11|XM_017029928.2:c.-129+387C>T|||||||rs7060444||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||1/11|XM_017029929.2:c.-129+498C>T|||||||rs7060444||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||1/8|XM_017029930.2:c.-129+498C>T|||||||rs7060444||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||1/8|XM_017029931.2:c.-129+119C>T|||||||rs7060444||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||1/11|XM_047442608.1:c.-129+387C>T|||||||rs7060444||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||1/10|XM_047442609.1:c.-129+387C>T|||||||rs7060444||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||1/10|XM_047442610.1:c.-129+387C>T|||||||rs7060444||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||1/10|XM_047442611.1:c.-129+119C>T|||||||rs7060444||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||1/9|XM_047442612.1:c.-129+119C>T|||||||rs7060444||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2829473C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||1/8|XM_047442613.1:c.-129+387C>T|||||||rs7060444||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2829473C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_BK6B|enhancer||||||||||rs7060444|||||||||||||||||||||chrX:g.2829473C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|-2|42|-2|35;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810823,ENST00000810827,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1,ENSRX_BK6B;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,.;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=39312;gnomADv4_1_AC_joint_XX=34934;gnomADv4_1_AC_joint_XY=4378;gnomADv4_1_AF_grpmax_joint=0.686;gnomADv4_1_AF_joint=0.531746;gnomADv4_1_AF_joint_XX=0.554086;gnomADv4_1_AF_joint_XY=0.402316;gnomADv4_1_AN_grpmax_joint=38742;gnomADv4_1_AN_joint=73930;gnomADv4_1_AN_joint_XX=63048;gnomADv4_1_AN_joint_XY=10882;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11151;gnomADv4_1_nhomalt_joint_XX=11151;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2830010 chrX_2830010_T_C T C 48 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=2.169;CADD_Rawscore=0.185464;CSQ=C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs57068689|179|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||1/7|ENST00000381161.5:n.63-51T>C|||||||rs57068689||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||1/11|ENST00000381163.7:c.-128-51T>C|||||||rs57068689||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||1/10|ENST00000398806.8:c.-128-51T>C|||||||rs57068689||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs57068689|51|1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||1/4|ENST00000520904.3:c.-128-51T>C|||||||rs57068689||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs57068689|1170|-1||||||||||||Ensembl||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs57068689|1186|-1||||||||||||Ensembl||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||1/10|NM_001079855.2:c.-128-51T>C|||||||rs57068689||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||1/10|NM_001184702.2:c.-128-51T>C|||||||rs57068689||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||1/9|NM_001184703.2:c.-128-51T>C|||||||rs57068689||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||1/7|NM_001184704.2:c.-451-51T>C|||||||rs57068689||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||1/11|NM_003918.3:c.-128-51T>C|||||||rs57068689||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||1/10|XM_011545600.3:c.-128-51T>C|||||||rs57068689||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||1/11|XM_017029927.2:c.-128-51T>C|||||||rs57068689||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||1/11|XM_017029928.2:c.-128-51T>C|||||||rs57068689||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||1/11|XM_017029929.2:c.-128-51T>C|||||||rs57068689||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||1/8|XM_017029930.2:c.-128-51T>C|||||||rs57068689||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||1/8|XM_017029931.2:c.-128-51T>C|||||||rs57068689||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||1/11|XM_047442608.1:c.-128-51T>C|||||||rs57068689||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||1/10|XM_047442609.1:c.-128-51T>C|||||||rs57068689||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||1/10|XM_047442610.1:c.-128-51T>C|||||||rs57068689||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||1/10|XM_047442611.1:c.-128-51T>C|||||||rs57068689||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||1/9|XM_047442612.1:c.-128-51T>C|||||||rs57068689||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2830010T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||1/8|XM_047442613.1:c.-128-51T>C|||||||rs57068689||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2830010T>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2830010T>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=1220908;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-17|-36|-47|-36;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810823,ENST00000810827,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=361208;gnomADv4_1_AC_joint_XX=245634;gnomADv4_1_AC_joint_XY=115574;gnomADv4_1_AF_grpmax_joint=0.831283;gnomADv4_1_AF_joint=0.792719;gnomADv4_1_AF_joint_XX=0.793494;gnomADv4_1_AF_joint_XY=0.791077;gnomADv4_1_AN_grpmax_joint=25848;gnomADv4_1_AN_joint=455657;gnomADv4_1_AN_joint_XX=309560;gnomADv4_1_AN_joint_XY=146097;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=98311;gnomADv4_1_nhomalt_joint_XX=98311;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2830212 chrX_2830212_G_C G C 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=2.759;CADD_Rawscore=0.250757;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.7+17G>C|||||||rs6642032||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+17G>C|||||||rs6642032||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.7+17G>C|||||||rs6642032||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+17G>C|||||||rs6642032||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+17G>C|||||||rs6642032||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+17G>C|||||||rs6642032||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs6642032|1372|-1||||||||||||Ensembl||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs6642032|1388|-1||||||||||||Ensembl||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+17G>C|||||||rs6642032||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+17G>C|||||||rs6642032||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.7+17G>C|||||||rs6642032||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+17G>C|||||||rs6642032||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.7+17G>C|||||||rs6642032||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+17G>C|||||||rs6642032||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.7+17G>C|||||||rs6642032||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.7+17G>C|||||||rs6642032||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.7+17G>C|||||||rs6642032||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+17G>C|||||||rs6642032||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+17G>C|||||||rs6642032||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.7+17G>C|||||||rs6642032||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+17G>C|||||||rs6642032||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+17G>C|||||||rs6642032||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+17G>C|||||||rs6642032||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.7+17G>C|||||||rs6642032||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2830212G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+17G>C|||||||rs6642032||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2830212G>C|benign||1||||||||||;ClinVar_CLNDN=not_specified|not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2830212G>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=379979;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-43|-17|-17|45;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810823,ENST00000810827,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1176839;gnomADv4_1_AC_joint_XX=794053;gnomADv4_1_AC_joint_XY=382786;gnomADv4_1_AF_grpmax_joint=0.994844;gnomADv4_1_AF_joint=0.979642;gnomADv4_1_AF_joint_XX=0.978669;gnomADv4_1_AF_joint_XY=0.981666;gnomADv4_1_AN_grpmax_joint=887665;gnomADv4_1_AN_joint=1201295;gnomADv4_1_AN_joint_XX=811360;gnomADv4_1_AN_joint_XY=389935;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=389527;gnomADv4_1_nhomalt_joint_XX=389527;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2830251 chrX_2830251_C_G C G 53 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=2.563;CADD_Rawscore=0.230526;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.7+56C>G|||||||rs6641656||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+56C>G|||||||rs6641656||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.7+56C>G|||||||rs6641656||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+56C>G|||||||rs6641656||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+56C>G|||||||rs6641656||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+56C>G|||||||rs6641656||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs6641656|1411|-1||||||||||||Ensembl||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs6641656|1427|-1||||||||||||Ensembl||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+56C>G|||||||rs6641656||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+56C>G|||||||rs6641656||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.7+56C>G|||||||rs6641656||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+56C>G|||||||rs6641656||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.7+56C>G|||||||rs6641656||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+56C>G|||||||rs6641656||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.7+56C>G|||||||rs6641656||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.7+56C>G|||||||rs6641656||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.7+56C>G|||||||rs6641656||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+56C>G|||||||rs6641656||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+56C>G|||||||rs6641656||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.7+56C>G|||||||rs6641656||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+56C>G|||||||rs6641656||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+56C>G|||||||rs6641656||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+56C>G|||||||rs6641656||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.7+56C>G|||||||rs6641656||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2830251C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+56C>G|||||||rs6641656||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2830251C>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2830251C>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=1294375;SpliceAI=G|GYG2|0.00|0.00|0.01|0.00|-5|3|-5|6;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810823,ENST00000810827,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=859181;gnomADv4_1_AC_joint_XX=601944;gnomADv4_1_AC_joint_XY=257237;gnomADv4_1_AF_grpmax_joint=0.825156;gnomADv4_1_AF_joint=0.783554;gnomADv4_1_AF_joint_XX=0.781705;gnomADv4_1_AF_joint_XY=0.787915;gnomADv4_1_AN_grpmax_joint=33058;gnomADv4_1_AN_joint=1096518;gnomADv4_1_AN_joint_XX=770040;gnomADv4_1_AN_joint_XY=326478;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=239194;gnomADv4_1_nhomalt_joint_XX=239194;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2830380 chrX_2830380_G_A G A 57 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=57;CADD_PHREDscore=3.835;CADD_Rawscore=0.350558;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.7+185G>A|||||||rs5939348||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+185G>A|||||||rs5939348||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.7+185G>A|||||||rs5939348||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+185G>A|||||||rs5939348||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+185G>A|||||||rs5939348||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+185G>A|||||||rs5939348||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs5939348|1540|-1||||||||||||Ensembl||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs5939348|1556|-1||||||||||||Ensembl||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+185G>A|||||||rs5939348||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+185G>A|||||||rs5939348||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.7+185G>A|||||||rs5939348||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+185G>A|||||||rs5939348||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.7+185G>A|||||||rs5939348||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+185G>A|||||||rs5939348||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.7+185G>A|||||||rs5939348||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.7+185G>A|||||||rs5939348||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.7+185G>A|||||||rs5939348||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+185G>A|||||||rs5939348||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+185G>A|||||||rs5939348||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.7+185G>A|||||||rs5939348||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+185G>A|||||||rs5939348||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+185G>A|||||||rs5939348||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+185G>A|||||||rs5939348||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.7+185G>A|||||||rs5939348||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2830380G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+185G>A|||||||rs5939348||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2830380G>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2830380G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=684112;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-45|49|21|-46;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810823,ENST00000810827,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73701;gnomADv4_1_AC_joint_XX=51727;gnomADv4_1_AC_joint_XY=21974;gnomADv4_1_AF_grpmax_joint=0.815828;gnomADv4_1_AF_joint=0.666881;gnomADv4_1_AF_joint_XX=0.665299;gnomADv4_1_AF_joint_XY=0.670634;gnomADv4_1_AN_grpmax_joint=3437;gnomADv4_1_AN_joint=110516;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=32766;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19044;gnomADv4_1_nhomalt_joint_XX=19044;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2831480 chrX_2831480_T_C T C 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.911;CADD_Rawscore=-0.041906;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.7+1285T>C|||||||rs5939350||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+1285T>C|||||||rs5939350||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.7+1285T>C|||||||rs5939350||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+1285T>C|||||||rs5939350||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+1285T>C|||||||rs5939350||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+1285T>C|||||||rs5939350||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2831480T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs5939350|2640|-1||||||||||||Ensembl||T|T||||chrX:g.2831480T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs5939350|2656|-1||||||||||||Ensembl||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+1285T>C|||||||rs5939350||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+1285T>C|||||||rs5939350||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.7+1285T>C|||||||rs5939350||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+1285T>C|||||||rs5939350||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.7+1285T>C|||||||rs5939350||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+1285T>C|||||||rs5939350||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.7+1285T>C|||||||rs5939350||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.7+1285T>C|||||||rs5939350||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.7+1285T>C|||||||rs5939350||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+1285T>C|||||||rs5939350||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+1285T>C|||||||rs5939350||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.7+1285T>C|||||||rs5939350||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+1285T>C|||||||rs5939350||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+1285T>C|||||||rs5939350||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+1285T>C|||||||rs5939350||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.7+1285T>C|||||||rs5939350||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2831480T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+1285T>C|||||||rs5939350||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2831480T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-3|18|42|-3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810823,ENST00000810827,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84023;gnomADv4_1_AC_joint_XX=59074;gnomADv4_1_AC_joint_XY=24949;gnomADv4_1_AF_grpmax_joint=0.831511;gnomADv4_1_AF_joint=0.760609;gnomADv4_1_AF_joint_XX=0.759618;gnomADv4_1_AF_joint_XY=0.762966;gnomADv4_1_AN_grpmax_joint=52864;gnomADv4_1_AN_joint=110468;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=32700;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=22833;gnomADv4_1_nhomalt_joint_XX=22833;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2832081 chrX_2832081_C_T C T 58 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=0.22;CADD_Rawscore=-0.401972;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.7+1886C>T|||||||rs5939351||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+1886C>T|||||||rs5939351||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.7+1886C>T|||||||rs5939351||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+1886C>T|||||||rs5939351||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+1886C>T|||||||rs5939351||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+1886C>T|||||||rs5939351||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2832081C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs5939351|3241|-1||||||||||||Ensembl||C|C||||chrX:g.2832081C>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs5939351|3257|-1||||||||||||Ensembl||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+1886C>T|||||||rs5939351||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+1886C>T|||||||rs5939351||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.7+1886C>T|||||||rs5939351||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+1886C>T|||||||rs5939351||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.7+1886C>T|||||||rs5939351||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+1886C>T|||||||rs5939351||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.7+1886C>T|||||||rs5939351||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.7+1886C>T|||||||rs5939351||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.7+1886C>T|||||||rs5939351||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+1886C>T|||||||rs5939351||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+1886C>T|||||||rs5939351||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.7+1886C>T|||||||rs5939351||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+1886C>T|||||||rs5939351||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+1886C>T|||||||rs5939351||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+1886C>T|||||||rs5939351||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.7+1886C>T|||||||rs5939351||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2832081C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+1886C>T|||||||rs5939351||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2832081C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|39|17|-11|16;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810823,ENST00000810827,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=76728;gnomADv4_1_AC_joint_XX=53170;gnomADv4_1_AC_joint_XY=23558;gnomADv4_1_AF_grpmax_joint=0.829136;gnomADv4_1_AF_joint=0.685984;gnomADv4_1_AF_joint_XX=0.683472;gnomADv4_1_AF_joint_XY=0.691723;gnomADv4_1_AN_grpmax_joint=53124;gnomADv4_1_AN_joint=111851;gnomADv4_1_AN_joint_XX=77794;gnomADv4_1_AN_joint_XY=34057;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=19887;gnomADv4_1_nhomalt_joint_XX=19887;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2832413 chrX_2832413_C_CT C CT 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADDIndel_PHREDscore=0.337;CADDIndel_Rawscore=-0.29226;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.7+2219dup|||||||rs11455459||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+2219dup|||||||rs11455459||1||HGNC|HGNC:4700|2||||||||Ensembl||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.7+2219dup|||||||rs11455459||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+2219dup|||||||rs11455459||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+2219dup|||||||rs11455459||1||HGNC|HGNC:4700|3||||||||Ensembl||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+2219dup|||||||rs11455459||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||||||1|chrX:g.2832414dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs11455459|3573|-1||||||||||||Ensembl|||||||chrX:g.2832414dup|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs11455459|3589|-1||||||||||||Ensembl|||||||chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+2219dup|||||||rs11455459||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+2219dup|||||||rs11455459||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.7+2219dup|||||||rs11455459||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+2219dup|||||||rs11455459||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.7+2219dup|||||||rs11455459||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+2219dup|||||||rs11455459||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.7+2219dup|||||||rs11455459||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.7+2219dup|||||||rs11455459||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.7+2219dup|||||||rs11455459||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+2219dup|||||||rs11455459||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+2219dup|||||||rs11455459||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.7+2219dup|||||||rs11455459||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+2219dup|||||||rs11455459||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+2219dup|||||||rs11455459||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+2219dup|||||||rs11455459||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.7+2219dup|||||||rs11455459||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||1|chrX:g.2832414dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+2219dup|||||||rs11455459||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||1|chrX:g.2832414dup|||||||||||||;SpliceAI=CT|GYG2|0.00|0.00|0.00|0.00|33|-42|-42|32;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810823,ENST00000810827,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=76373;gnomADv4_1_AC_joint_XX=53754;gnomADv4_1_AC_joint_XY=22619;gnomADv4_1_AF_grpmax_joint=0.83012;gnomADv4_1_AF_joint=0.692631;gnomADv4_1_AF_joint_XX=0.691565;gnomADv4_1_AF_joint_XY=0.695178;gnomADv4_1_AN_grpmax_joint=52702;gnomADv4_1_AN_joint=110265;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=32537;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=20142;gnomADv4_1_nhomalt_joint_XX=20142;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2832727 chrX_2832727_G_T G T 52 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=0.967;CADD_Rawscore=-0.026381;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.7+2532G>T|||||||rs2873118||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+2532G>T|||||||rs2873118||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.7+2532G>T|||||||rs2873118||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+2532G>T|||||||rs2873118||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+2532G>T|||||||rs2873118||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+2532G>T|||||||rs2873118||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2832727G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs2873118|3887|-1||||||||||||Ensembl||G|G||||chrX:g.2832727G>T|||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs2873118|3903|-1||||||||||||Ensembl||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+2532G>T|||||||rs2873118||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+2532G>T|||||||rs2873118||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.7+2532G>T|||||||rs2873118||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+2532G>T|||||||rs2873118||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.7+2532G>T|||||||rs2873118||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+2532G>T|||||||rs2873118||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.7+2532G>T|||||||rs2873118||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.7+2532G>T|||||||rs2873118||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.7+2532G>T|||||||rs2873118||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+2532G>T|||||||rs2873118||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+2532G>T|||||||rs2873118||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.7+2532G>T|||||||rs2873118||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+2532G>T|||||||rs2873118||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+2532G>T|||||||rs2873118||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+2532G>T|||||||rs2873118||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.7+2532G>T|||||||rs2873118||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2832727G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+2532G>T|||||||rs2873118||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2832727G>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|-50|44|-12|-50;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810823,ENST00000810827,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16149;gnomADv4_1_AC_joint_XX=11582;gnomADv4_1_AC_joint_XY=4567;gnomADv4_1_AF_grpmax_joint=0.245418;gnomADv4_1_AF_joint=0.145506;gnomADv4_1_AF_joint_XX=0.148907;gnomADv4_1_AF_joint_XY=0.13754;gnomADv4_1_AN_grpmax_joint=3492;gnomADv4_1_AN_joint=110985;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=33205;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=965;gnomADv4_1_nhomalt_joint_XX=965;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2833119 chrX_2833119_T_C T C 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=3.806;CADD_Rawscore=0.348008;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.7+2924T>C|||||||rs5939352||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+2924T>C|||||||rs5939352||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.7+2924T>C|||||||rs5939352||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+2924T>C|||||||rs5939352||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+2924T>C|||||||rs5939352||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+2924T>C|||||||rs5939352||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2833119T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs5939352|4279|-1||||||||||||Ensembl||T|T||||chrX:g.2833119T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs5939352|4295|-1||||||||||||Ensembl||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+2924T>C|||||||rs5939352||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+2924T>C|||||||rs5939352||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.7+2924T>C|||||||rs5939352||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+2924T>C|||||||rs5939352||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.7+2924T>C|||||||rs5939352||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+2924T>C|||||||rs5939352||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.7+2924T>C|||||||rs5939352||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.7+2924T>C|||||||rs5939352||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.7+2924T>C|||||||rs5939352||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+2924T>C|||||||rs5939352||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+2924T>C|||||||rs5939352||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.7+2924T>C|||||||rs5939352||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+2924T>C|||||||rs5939352||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+2924T>C|||||||rs5939352||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+2924T>C|||||||rs5939352||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.7+2924T>C|||||||rs5939352||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2833119T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+2924T>C|||||||rs5939352||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2833119T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-2|27|25|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810823,ENST00000810827,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=97980;gnomADv4_1_AC_joint_XX=69055;gnomADv4_1_AC_joint_XY=28925;gnomADv4_1_AF_grpmax_joint=0.99379;gnomADv4_1_AF_joint=0.89042;gnomADv4_1_AF_joint_XX=0.888099;gnomADv4_1_AF_joint_XY=0.89601;gnomADv4_1_AN_grpmax_joint=52816;gnomADv4_1_AN_joint=110038;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=32282;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=31520;gnomADv4_1_nhomalt_joint_XX=31520;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2833659 chrX_2833659_T_C T C 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=3.149;CADD_Rawscore=0.288603;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.7+3464T>C|||||||rs1825657||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+3464T>C|||||||rs1825657||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.7+3464T>C|||||||rs1825657||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+3464T>C|||||||rs1825657||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+3464T>C|||||||rs1825657||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+3464T>C|||||||rs1825657||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2833659T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810823|lncRNA||||||||||rs1825657|4819|-1||||||||||||Ensembl||T|T||||chrX:g.2833659T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000305418|Transcript|ENST00000810827|lncRNA||||||||||rs1825657|4835|-1||||||||||||Ensembl||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+3464T>C|||||||rs1825657||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+3464T>C|||||||rs1825657||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.7+3464T>C|||||||rs1825657||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+3464T>C|||||||rs1825657||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.7+3464T>C|||||||rs1825657||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+3464T>C|||||||rs1825657||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.7+3464T>C|||||||rs1825657||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.7+3464T>C|||||||rs1825657||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.7+3464T>C|||||||rs1825657||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+3464T>C|||||||rs1825657||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+3464T>C|||||||rs1825657||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.7+3464T>C|||||||rs1825657||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+3464T>C|||||||rs1825657||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+3464T>C|||||||rs1825657||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+3464T>C|||||||rs1825657||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.7+3464T>C|||||||rs1825657||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2833659T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+3464T>C|||||||rs1825657||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2833659T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-46|35|33|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,ENST00000810823,ENST00000810827,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000305418,ENSG00000305418,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.,.,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=98081;gnomADv4_1_AC_joint_XX=68630;gnomADv4_1_AC_joint_XY=29451;gnomADv4_1_AF_grpmax_joint=0.993395;gnomADv4_1_AF_joint=0.884657;gnomADv4_1_AF_joint_XX=0.882338;gnomADv4_1_AF_joint_XY=0.890108;gnomADv4_1_AN_grpmax_joint=52988;gnomADv4_1_AN_joint=110869;gnomADv4_1_AN_joint_XX=77782;gnomADv4_1_AN_joint_XY=33087;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=31212;gnomADv4_1_nhomalt_joint_XX=31212;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2833863 chrX_2833863_C_G C G 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=35;CADD_PHREDscore=2.737;CADD_Rawscore=0.24859;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.7+3668C>G|||||||rs6641657||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+3668C>G|||||||rs6641657||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.7+3668C>G|||||||rs6641657||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+3668C>G|||||||rs6641657||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+3668C>G|||||||rs6641657||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+3668C>G|||||||rs6641657||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+3668C>G|||||||rs6641657||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+3668C>G|||||||rs6641657||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.7+3668C>G|||||||rs6641657||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+3668C>G|||||||rs6641657||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.7+3668C>G|||||||rs6641657||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+3668C>G|||||||rs6641657||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.7+3668C>G|||||||rs6641657||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.7+3668C>G|||||||rs6641657||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.7+3668C>G|||||||rs6641657||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+3668C>G|||||||rs6641657||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+3668C>G|||||||rs6641657||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.7+3668C>G|||||||rs6641657||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+3668C>G|||||||rs6641657||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+3668C>G|||||||rs6641657||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+3668C>G|||||||rs6641657||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.7+3668C>G|||||||rs6641657||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2833863C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+3668C>G|||||||rs6641657||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2833863C>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|47|-16|-47|-13;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57594;gnomADv4_1_AC_joint_XX=40120;gnomADv4_1_AC_joint_XY=17474;gnomADv4_1_AF_grpmax_joint=0.648425;gnomADv4_1_AF_joint=0.51689;gnomADv4_1_AF_joint_XX=0.515854;gnomADv4_1_AF_joint_XY=0.519287;gnomADv4_1_AN_grpmax_joint=52919;gnomADv4_1_AN_joint=111424;gnomADv4_1_AN_joint_XX=77774;gnomADv4_1_AN_joint_XY=33650;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11797;gnomADv4_1_nhomalt_joint_XX=11797;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2834029 chrX_2834029_C_T C T 51 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=0.054;CADD_Rawscore=-0.779752;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.7+3834C>T|||||||rs12396748||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+3834C>T|||||||rs12396748||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.7+3834C>T|||||||rs12396748||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+3834C>T|||||||rs12396748||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+3834C>T|||||||rs12396748||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+3834C>T|||||||rs12396748||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+3834C>T|||||||rs12396748||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+3834C>T|||||||rs12396748||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.7+3834C>T|||||||rs12396748||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+3834C>T|||||||rs12396748||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.7+3834C>T|||||||rs12396748||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+3834C>T|||||||rs12396748||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.7+3834C>T|||||||rs12396748||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.7+3834C>T|||||||rs12396748||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.7+3834C>T|||||||rs12396748||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+3834C>T|||||||rs12396748||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+3834C>T|||||||rs12396748||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.7+3834C>T|||||||rs12396748||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+3834C>T|||||||rs12396748||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+3834C>T|||||||rs12396748||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+3834C>T|||||||rs12396748||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.7+3834C>T|||||||rs12396748||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2834029C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+3834C>T|||||||rs12396748||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2834029C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|45|-41|45|25;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22380;gnomADv4_1_AC_joint_XX=15908;gnomADv4_1_AC_joint_XY=6472;gnomADv4_1_AF_grpmax_joint=0.261899;gnomADv4_1_AF_joint=0.200817;gnomADv4_1_AF_joint_XX=0.204515;gnomADv4_1_AF_joint_XY=0.19227;gnomADv4_1_AN_grpmax_joint=30611;gnomADv4_1_AN_joint=111445;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=33661;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1680;gnomADv4_1_nhomalt_joint_XX=1680;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2834292 chrX_2834292_C_T C T 57 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=57;CADD_PHREDscore=0.121;CADD_Rawscore=-0.560709;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.7+4097C>T|||||||rs12387509||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+4097C>T|||||||rs12387509||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.7+4097C>T|||||||rs12387509||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+4097C>T|||||||rs12387509||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+4097C>T|||||||rs12387509||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+4097C>T|||||||rs12387509||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+4097C>T|||||||rs12387509||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+4097C>T|||||||rs12387509||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.7+4097C>T|||||||rs12387509||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+4097C>T|||||||rs12387509||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.7+4097C>T|||||||rs12387509||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+4097C>T|||||||rs12387509||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.7+4097C>T|||||||rs12387509||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.7+4097C>T|||||||rs12387509||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.7+4097C>T|||||||rs12387509||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+4097C>T|||||||rs12387509||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+4097C>T|||||||rs12387509||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.7+4097C>T|||||||rs12387509||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+4097C>T|||||||rs12387509||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+4097C>T|||||||rs12387509||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+4097C>T|||||||rs12387509||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.7+4097C>T|||||||rs12387509||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2834292C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+4097C>T|||||||rs12387509||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2834292C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|20|-3|-35|24;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23464;gnomADv4_1_AC_joint_XX=16726;gnomADv4_1_AC_joint_XY=6738;gnomADv4_1_AF_grpmax_joint=0.296811;gnomADv4_1_AF_joint=0.211502;gnomADv4_1_AF_joint_XX=0.215208;gnomADv4_1_AF_joint_XY=0.20283;gnomADv4_1_AN_grpmax_joint=30447;gnomADv4_1_AN_joint=110940;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=33220;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1915;gnomADv4_1_nhomalt_joint_XX=1915;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2834575 chrX_2834575_G_GA G GA 51 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADDIndel_PHREDscore=1.303;CADDIndel_Rawscore=0.051157;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.7+4381dup|||||||rs113754416||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+4381dup|||||||rs113754416||1||HGNC|HGNC:4700|2||||||||Ensembl||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.7+4381dup|||||||rs113754416||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+4381dup|||||||rs113754416||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+4381dup|||||||rs113754416||1||HGNC|HGNC:4700|3||||||||Ensembl||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+4381dup|||||||rs113754416||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+4381dup|||||||rs113754416||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+4381dup|||||||rs113754416||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.7+4381dup|||||||rs113754416||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+4381dup|||||||rs113754416||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.7+4381dup|||||||rs113754416||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+4381dup|||||||rs113754416||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.7+4381dup|||||||rs113754416||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.7+4381dup|||||||rs113754416||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.7+4381dup|||||||rs113754416||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+4381dup|||||||rs113754416||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+4381dup|||||||rs113754416||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.7+4381dup|||||||rs113754416||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+4381dup|||||||rs113754416||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+4381dup|||||||rs113754416||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+4381dup|||||||rs113754416||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.7+4381dup|||||||rs113754416||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||1|chrX:g.2834576dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+4381dup|||||||rs113754416||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||1|chrX:g.2834576dup|||||||||||||;SpliceAI=GA|GYG2|0.00|0.00|0.00|0.00|-39|18|-18|-45;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20161;gnomADv4_1_AC_joint_XX=14486;gnomADv4_1_AC_joint_XY=5675;gnomADv4_1_AF_grpmax_joint=0.254936;gnomADv4_1_AF_joint=0.181428;gnomADv4_1_AF_joint_XX=0.186329;gnomADv4_1_AF_joint_XY=0.170012;gnomADv4_1_AN_grpmax_joint=3495;gnomADv4_1_AN_joint=111124;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=33380;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1376;gnomADv4_1_nhomalt_joint_XX=1376;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2834666 chrX_2834666_A_G A G 48 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=5.253;CADD_Rawscore=0.47972;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.7+4471A>G|||||||rs5982590||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+4471A>G|||||||rs5982590||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.7+4471A>G|||||||rs5982590||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+4471A>G|||||||rs5982590||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+4471A>G|||||||rs5982590||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+4471A>G|||||||rs5982590||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+4471A>G|||||||rs5982590||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+4471A>G|||||||rs5982590||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.7+4471A>G|||||||rs5982590||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+4471A>G|||||||rs5982590||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.7+4471A>G|||||||rs5982590||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+4471A>G|||||||rs5982590||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.7+4471A>G|||||||rs5982590||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.7+4471A>G|||||||rs5982590||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.7+4471A>G|||||||rs5982590||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+4471A>G|||||||rs5982590||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+4471A>G|||||||rs5982590||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.7+4471A>G|||||||rs5982590||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+4471A>G|||||||rs5982590||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+4471A>G|||||||rs5982590||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+4471A>G|||||||rs5982590||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.7+4471A>G|||||||rs5982590||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2834666A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+4471A>G|||||||rs5982590||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2834666A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|1|-4|-1|-4;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18461;gnomADv4_1_AC_joint_XX=13133;gnomADv4_1_AC_joint_XY=5328;gnomADv4_1_AF_grpmax_joint=0.253237;gnomADv4_1_AF_joint=0.165644;gnomADv4_1_AF_joint_XX=0.168822;gnomADv4_1_AF_joint_XY=0.158298;gnomADv4_1_AN_grpmax_joint=3475;gnomADv4_1_AN_joint=111450;gnomADv4_1_AN_joint_XX=77792;gnomADv4_1_AN_joint_XY=33658;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1130;gnomADv4_1_nhomalt_joint_XX=1130;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2835141 chrX_2835141_G_C G C 53 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=1.361;CADD_Rawscore=0.06259;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.7+4946G>C|||||||rs113160927||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+4946G>C|||||||rs113160927||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.7+4946G>C|||||||rs113160927||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+4946G>C|||||||rs113160927||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+4946G>C|||||||rs113160927||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+4946G>C|||||||rs113160927||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+4946G>C|||||||rs113160927||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+4946G>C|||||||rs113160927||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.7+4946G>C|||||||rs113160927||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+4946G>C|||||||rs113160927||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.7+4946G>C|||||||rs113160927||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+4946G>C|||||||rs113160927||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.7+4946G>C|||||||rs113160927||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.7+4946G>C|||||||rs113160927||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.7+4946G>C|||||||rs113160927||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+4946G>C|||||||rs113160927||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+4946G>C|||||||rs113160927||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.7+4946G>C|||||||rs113160927||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+4946G>C|||||||rs113160927||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+4946G>C|||||||rs113160927||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+4946G>C|||||||rs113160927||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.7+4946G>C|||||||rs113160927||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2835141G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+4946G>C|||||||rs113160927||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2835141G>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|31|-7|-20|-47;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18428;gnomADv4_1_AC_joint_XX=13148;gnomADv4_1_AC_joint_XY=5280;gnomADv4_1_AF_grpmax_joint=0.251425;gnomADv4_1_AF_joint=0.165773;gnomADv4_1_AF_joint_XX=0.169119;gnomADv4_1_AF_joint_XY=0.157989;gnomADv4_1_AN_grpmax_joint=3508;gnomADv4_1_AN_joint=111164;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=33420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1137;gnomADv4_1_nhomalt_joint_XX=1137;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2835486 chrX_2835486_T_C T C 41 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=41;CADD_PHREDscore=4.934;CADD_Rawscore=0.449724;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.7+5291T>C|||||||rs7057656||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+5291T>C|||||||rs7057656||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.7+5291T>C|||||||rs7057656||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+5291T>C|||||||rs7057656||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+5291T>C|||||||rs7057656||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+5291T>C|||||||rs7057656||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+5291T>C|||||||rs7057656||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+5291T>C|||||||rs7057656||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.7+5291T>C|||||||rs7057656||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+5291T>C|||||||rs7057656||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.7+5291T>C|||||||rs7057656||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+5291T>C|||||||rs7057656||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.7+5291T>C|||||||rs7057656||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.7+5291T>C|||||||rs7057656||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.7+5291T>C|||||||rs7057656||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+5291T>C|||||||rs7057656||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+5291T>C|||||||rs7057656||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.7+5291T>C|||||||rs7057656||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+5291T>C|||||||rs7057656||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+5291T>C|||||||rs7057656||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+5291T>C|||||||rs7057656||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.7+5291T>C|||||||rs7057656||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2835486T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+5291T>C|||||||rs7057656||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2835486T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-27|-2|10|-28;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37532;gnomADv4_1_AC_joint_XX=26523;gnomADv4_1_AC_joint_XY=11009;gnomADv4_1_AF_grpmax_joint=0.436122;gnomADv4_1_AF_joint=0.338324;gnomADv4_1_AF_joint_XX=0.34129;gnomADv4_1_AF_joint_XY=0.331387;gnomADv4_1_AN_grpmax_joint=2630;gnomADv4_1_AN_joint=110935;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=33221;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4579;gnomADv4_1_nhomalt_joint_XX=4579;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2836673 chrX_2836673_CAAA_C;chrX_2836673_CAA_C CAAA C 27 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=1.0;AF_XX=.;AF_XY=1.0;AN=1;AN_XX=0;AN_XY=1;AQ=27;CADDIndel_PHREDscore=1.565;CADDIndel_Rawscore=0.099231;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-6307_8-6305del|||||||rs571518086||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+6496_197+6498del|||||||rs571518086||1||HGNC|HGNC:4700|2||||||||Ensembl||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-6307_8-6305del|||||||rs571518086||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+6496_7+6498del|||||||rs571518086||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+6496_135+6498del|||||||rs571518086||1||HGNC|HGNC:4700|3||||||||Ensembl||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+6496_7+6498del|||||||rs571518086||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+6496_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+6496_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-6307_8-6305del|||||||rs571518086||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+6496_-317+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-6307_8-6305del|||||||rs571518086||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+6496_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-6307_8-6305del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-6307_8-6305del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-6307_8-6305del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+6496_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+6496_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-6307_8-6305del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+6496_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+6496_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+6496_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-6307_8-6305del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+6496_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||AAA|AAA|||17|chrX:g.2836691_2836693del|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-17|9|-25|-13;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=12098;gnomADv4_1_AC_joint_XX=11163;gnomADv4_1_AC_joint_XY=935;gnomADv4_1_AF_grpmax_joint=0.322186;gnomADv4_1_AF_joint=0.255173;gnomADv4_1_AF_joint_XX=0.257354;gnomADv4_1_AF_joint_XY=0.231722;gnomADv4_1_AN_grpmax_joint=1555;gnomADv4_1_AN_joint=47411;gnomADv4_1_AN_joint_XX=43376;gnomADv4_1_AN_joint_XY=4035;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=810;gnomADv4_1_nhomalt_joint_XX=810;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2836673 chrX_2836673_CAAA_C;chrX_2836673_CAA_C CAA C 27 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=1;AN_XX=0;AN_XY=1;AQ=21;CADDIndel_PHREDscore=0.85;CADDIndel_Rawscore=-0.059643;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-6306_8-6305del|||||||rs571518086||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+6497_197+6498del|||||||rs571518086||1||HGNC|HGNC:4700|2||||||||Ensembl||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-6306_8-6305del|||||||rs571518086||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.7+6497_7+6498del|||||||rs571518086||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.135+6497_135+6498del|||||||rs571518086||1||HGNC|HGNC:4700|3||||||||Ensembl||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.7+6497_7+6498del|||||||rs571518086||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.7+6497_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.7+6497_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-6306_8-6305del|||||||rs571518086||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+6497_-317+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-6306_8-6305del|||||||rs571518086||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.7+6497_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-6306_8-6305del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-6306_8-6305del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-6306_8-6305del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.7+6497_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.7+6497_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-6306_8-6305del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.7+6497_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.7+6497_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.7+6497_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-6306_8-6305del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.7+6497_7+6498del|||||||rs571518086||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||AA|AA|||18|chrX:g.2836692_2836693del|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|22|46|25|-13;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8436;gnomADv4_1_AC_joint_XX=7960;gnomADv4_1_AC_joint_XY=476;gnomADv4_1_AF_grpmax_joint=0.341787;gnomADv4_1_AF_joint=0.177705;gnomADv4_1_AF_joint_XX=0.18341;gnomADv4_1_AF_joint_XY=0.116896;gnomADv4_1_AN_grpmax_joint=828;gnomADv4_1_AN_joint=47472;gnomADv4_1_AN_joint_XX=43400;gnomADv4_1_AN_joint_XY=4072;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=400;gnomADv4_1_nhomalt_joint_XX=400;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2836752 chrX_2836752_T_C T C 45 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADD_PHREDscore=0.792;CADD_Rawscore=-0.077689;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-6246T>C|||||||rs7892329||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+6557T>C|||||||rs7892329||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-6246T>C|||||||rs7892329||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-6461T>C|||||||rs7892329||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-6461T>C|||||||rs7892329||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-6461T>C|||||||rs7892329||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-6461T>C|||||||rs7892329||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-6461T>C|||||||rs7892329||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-6246T>C|||||||rs7892329||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+6557T>C|||||||rs7892329||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-6246T>C|||||||rs7892329||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-6461T>C|||||||rs7892329||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-6246T>C|||||||rs7892329||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-6246T>C|||||||rs7892329||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-6246T>C|||||||rs7892329||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-6461T>C|||||||rs7892329||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-6461T>C|||||||rs7892329||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-6246T>C|||||||rs7892329||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-6461T>C|||||||rs7892329||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-6461T>C|||||||rs7892329||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-6461T>C|||||||rs7892329||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-6246T>C|||||||rs7892329||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2836752T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-6461T>C|||||||rs7892329||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2836752T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-33|13|36|31;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35773;gnomADv4_1_AC_joint_XX=26715;gnomADv4_1_AC_joint_XY=9058;gnomADv4_1_AF_grpmax_joint=0.417094;gnomADv4_1_AF_joint=0.336611;gnomADv4_1_AF_joint_XX=0.34657;gnomADv4_1_AF_joint_XY=0.310312;gnomADv4_1_AN_grpmax_joint=2340;gnomADv4_1_AN_joint=106274;gnomADv4_1_AN_joint_XX=77084;gnomADv4_1_AN_joint_XY=29190;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4706;gnomADv4_1_nhomalt_joint_XX=4706;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2836852 chrX_2836852_T_A T A 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=1.768;CADD_Rawscore=0.131299;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-6146T>A|||||||rs5939131||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+6657T>A|||||||rs5939131||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-6146T>A|||||||rs5939131||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-6361T>A|||||||rs5939131||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-6361T>A|||||||rs5939131||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-6361T>A|||||||rs5939131||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-6361T>A|||||||rs5939131||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-6361T>A|||||||rs5939131||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-6146T>A|||||||rs5939131||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+6657T>A|||||||rs5939131||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-6146T>A|||||||rs5939131||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-6361T>A|||||||rs5939131||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-6146T>A|||||||rs5939131||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-6146T>A|||||||rs5939131||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-6146T>A|||||||rs5939131||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-6361T>A|||||||rs5939131||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-6361T>A|||||||rs5939131||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-6146T>A|||||||rs5939131||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-6361T>A|||||||rs5939131||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-6361T>A|||||||rs5939131||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-6361T>A|||||||rs5939131||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-6146T>A|||||||rs5939131||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2836852T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-6361T>A|||||||rs5939131||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2836852T>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-30|42|18|42;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=103277;gnomADv4_1_AC_joint_XX=73693;gnomADv4_1_AC_joint_XY=29584;gnomADv4_1_AF_grpmax_joint=0.994479;gnomADv4_1_AF_joint=0.949037;gnomADv4_1_AF_joint_XX=0.947991;gnomADv4_1_AF_joint_XY=0.951652;gnomADv4_1_AN_grpmax_joint=52527;gnomADv4_1_AN_joint=108823;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=31087;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=35088;gnomADv4_1_nhomalt_joint_XX=35088;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2837838 chrX_2837838_TACACACAC_T TACACACAC T 45 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADDIndel_PHREDscore=0.87;CADDIndel_Rawscore=-0.053716;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-5136_8-5129del|||||||rs10578668||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+7667_197+7674del|||||||rs10578668||1||HGNC|HGNC:4700|2||||||||Ensembl||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-5136_8-5129del|||||||rs10578668||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-5351_8-5344del|||||||rs10578668||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-5351_136-5344del|||||||rs10578668||1||HGNC|HGNC:4700|3||||||||Ensembl||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-5351_8-5344del|||||||rs10578668||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-5351_8-5344del|||||||rs10578668||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-5351_8-5344del|||||||rs10578668||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-5136_8-5129del|||||||rs10578668||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+7667_-317+7674del|||||||rs10578668||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-5136_8-5129del|||||||rs10578668||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-5351_8-5344del|||||||rs10578668||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-5136_8-5129del|||||||rs10578668||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-5136_8-5129del|||||||rs10578668||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-5136_8-5129del|||||||rs10578668||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-5351_8-5344del|||||||rs10578668||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-5351_8-5344del|||||||rs10578668||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-5136_8-5129del|||||||rs10578668||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-5351_8-5344del|||||||rs10578668||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-5351_8-5344del|||||||rs10578668||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-5351_8-5344del|||||||rs10578668||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-5136_8-5129del|||||||rs10578668||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-5351_8-5344del|||||||rs10578668||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||ACACACAC|ACACACAC|||23|chrX:g.2837862_2837869del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29905;gnomADv4_1_AC_joint_XX=22569;gnomADv4_1_AC_joint_XY=7336;gnomADv4_1_AF_grpmax_joint=0.421851;gnomADv4_1_AF_joint=0.299029;gnomADv4_1_AF_joint_XX=0.297532;gnomADv4_1_AF_joint_XY=0.30373;gnomADv4_1_AN_grpmax_joint=3231;gnomADv4_1_AN_joint=100007;gnomADv4_1_AN_joint_XX=75854;gnomADv4_1_AN_joint_XY=24153;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3432;gnomADv4_1_nhomalt_joint_XX=3432;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2837884 chrX_2837884_C_T C T 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=36;CADD_PHREDscore=2.167;CADD_Rawscore=0.185235;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-5114C>T|||||||rs4892894||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+7689C>T|||||||rs4892894||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-5114C>T|||||||rs4892894||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-5329C>T|||||||rs4892894||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-5329C>T|||||||rs4892894||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-5329C>T|||||||rs4892894||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-5329C>T|||||||rs4892894||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-5329C>T|||||||rs4892894||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-5114C>T|||||||rs4892894||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+7689C>T|||||||rs4892894||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-5114C>T|||||||rs4892894||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-5329C>T|||||||rs4892894||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-5114C>T|||||||rs4892894||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-5114C>T|||||||rs4892894||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-5114C>T|||||||rs4892894||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-5329C>T|||||||rs4892894||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-5329C>T|||||||rs4892894||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-5114C>T|||||||rs4892894||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-5329C>T|||||||rs4892894||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-5329C>T|||||||rs4892894||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-5329C>T|||||||rs4892894||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-5114C>T|||||||rs4892894||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2837884C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-5329C>T|||||||rs4892894||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2837884C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|16|1|16|-26;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60718;gnomADv4_1_AC_joint_XX=43476;gnomADv4_1_AC_joint_XY=17242;gnomADv4_1_AF_grpmax_joint=0.637984;gnomADv4_1_AF_joint=0.562042;gnomADv4_1_AF_joint_XX=0.560677;gnomADv4_1_AF_joint_XY=0.565515;gnomADv4_1_AN_grpmax_joint=52169;gnomADv4_1_AN_joint=108031;gnomADv4_1_AN_joint_XX=77542;gnomADv4_1_AN_joint_XY=30489;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=12692;gnomADv4_1_nhomalt_joint_XX=12692;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2838029 chrX_2838029_C_CA C CA 46 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=46;CADDIndel_PHREDscore=0.753;CADDIndel_Rawscore=-0.090606;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-4956dup|||||||rs61022116||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+7847dup|||||||rs61022116||1||HGNC|HGNC:4700|2||||||||Ensembl||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-4956dup|||||||rs61022116||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-5171dup|||||||rs61022116||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-5171dup|||||||rs61022116||1||HGNC|HGNC:4700|3||||||||Ensembl||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-5171dup|||||||rs61022116||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-5171dup|||||||rs61022116||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-5171dup|||||||rs61022116||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-4956dup|||||||rs61022116||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+7847dup|||||||rs61022116||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-4956dup|||||||rs61022116||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-5171dup|||||||rs61022116||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-4956dup|||||||rs61022116||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-4956dup|||||||rs61022116||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-4956dup|||||||rs61022116||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-5171dup|||||||rs61022116||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-5171dup|||||||rs61022116||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-4956dup|||||||rs61022116||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-5171dup|||||||rs61022116||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-5171dup|||||||rs61022116||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-5171dup|||||||rs61022116||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-4956dup|||||||rs61022116||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||13|chrX:g.2838042dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-5171dup|||||||rs61022116||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||13|chrX:g.2838042dup|||||||||||||;SpliceAI=CA|GYG2|0.00|0.00|0.00|0.00|-8|-32|-25|-9;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21162;gnomADv4_1_AC_joint_XX=16289;gnomADv4_1_AC_joint_XY=4873;gnomADv4_1_AF_grpmax_joint=0.280959;gnomADv4_1_AF_joint=0.213065;gnomADv4_1_AF_joint_XX=0.218732;gnomADv4_1_AF_joint_XY=0.196081;gnomADv4_1_AN_grpmax_joint=27278;gnomADv4_1_AN_joint=99322;gnomADv4_1_AN_joint_XX=74470;gnomADv4_1_AN_joint_XY=24852;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1765;gnomADv4_1_nhomalt_joint_XX=1765;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2838372 chrX_2838372_T_C T C 50 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=0.897;CADD_Rawscore=-0.045776;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-4626T>C|||||||rs5982876||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+8177T>C|||||||rs5982876||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-4626T>C|||||||rs5982876||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-4841T>C|||||||rs5982876||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-4841T>C|||||||rs5982876||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-4841T>C|||||||rs5982876||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-4841T>C|||||||rs5982876||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-4841T>C|||||||rs5982876||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-4626T>C|||||||rs5982876||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+8177T>C|||||||rs5982876||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-4626T>C|||||||rs5982876||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-4841T>C|||||||rs5982876||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-4626T>C|||||||rs5982876||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-4626T>C|||||||rs5982876||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-4626T>C|||||||rs5982876||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-4841T>C|||||||rs5982876||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-4841T>C|||||||rs5982876||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-4626T>C|||||||rs5982876||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-4841T>C|||||||rs5982876||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-4841T>C|||||||rs5982876||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-4841T>C|||||||rs5982876||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-4626T>C|||||||rs5982876||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2838372T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-4841T>C|||||||rs5982876||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2838372T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-3|11|16|5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=34933;gnomADv4_1_AC_joint_XX=25933;gnomADv4_1_AC_joint_XY=9000;gnomADv4_1_AF_grpmax_joint=0.40901;gnomADv4_1_AF_joint=0.323454;gnomADv4_1_AF_joint_XX=0.334507;gnomADv4_1_AF_joint_XY=0.295334;gnomADv4_1_AN_grpmax_joint=3352;gnomADv4_1_AN_joint=108000;gnomADv4_1_AN_joint_XX=77526;gnomADv4_1_AN_joint_XY=30474;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4422;gnomADv4_1_nhomalt_joint_XX=4422;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2838452 chrX_2838452_C_CCCCTCCCTTCCTCCTT C CCCCTCCCTTCCTCCTT 35 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=35;CADDIndel_PHREDscore=0.449;CADDIndel_Rawscore=-0.220039;CSQ=CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-4533_8-4532insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+8270_197+8271insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||HGNC|HGNC:4700|2||||||||Ensembl||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-4533_8-4532insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-4748_8-4747insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-4748_136-4747insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||HGNC|HGNC:4700|3||||||||Ensembl||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-4748_8-4747insCTTCCCTCCCTTCCTC|||||||rs1555895877||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-4748_8-4747insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-4748_8-4747insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-4533_8-4532insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+8270_-317+8271insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-4533_8-4532insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-4748_8-4747insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-4533_8-4532insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-4533_8-4532insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-4533_8-4532insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-4748_8-4747insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-4748_8-4747insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-4533_8-4532insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-4748_8-4747insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-4748_8-4747insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-4748_8-4747insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-4533_8-4532insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||,CCCTCCCTTCCTCCTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-4748_8-4747insCTTCCCTCCCTTCCTC|||||||rs1555895877||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||13|chrX:g.2838465_2838466insCTTCCCTCCCTTCCTC|||||||||||||;TYPE=INDEL;VEP_Allele=CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT,CCCTCCCTTCCTCCTT;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64984;gnomADv4_1_AC_joint_XX=58293;gnomADv4_1_AC_joint_XY=6691;gnomADv4_1_AF_grpmax_joint=0.989825;gnomADv4_1_AF_joint=0.883859;gnomADv4_1_AF_joint_XX=0.900306;gnomADv4_1_AF_joint_XY=0.762507;gnomADv4_1_AN_grpmax_joint=38623;gnomADv4_1_AN_joint=73523;gnomADv4_1_AN_joint_XX=64748;gnomADv4_1_AN_joint_XY=8775;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26852;gnomADv4_1_nhomalt_joint_XX=26852;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2838775 chrX_2838775_AT_A AT A 51 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADDIndel_PHREDscore=0.844;CADDIndel_Rawscore=-0.06149;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-4218del|||||||rs201203547||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+8585del|||||||rs201203547||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-4218del|||||||rs201203547||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-4433del|||||||rs201203547||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-4433del|||||||rs201203547||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-4433del|||||||rs201203547||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-4433del|||||||rs201203547||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-4433del|||||||rs201203547||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-4218del|||||||rs201203547||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+8585del|||||||rs201203547||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-4218del|||||||rs201203547||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-4433del|||||||rs201203547||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-4218del|||||||rs201203547||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-4218del|||||||rs201203547||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-4218del|||||||rs201203547||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-4433del|||||||rs201203547||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-4433del|||||||rs201203547||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-4218del|||||||rs201203547||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-4433del|||||||rs201203547||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-4433del|||||||rs201203547||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-4433del|||||||rs201203547||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-4218del|||||||rs201203547||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T|||4|chrX:g.2838780del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-4433del|||||||rs201203547||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T|||4|chrX:g.2838780del|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-8|-36|-27|-8;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17950;gnomADv4_1_AC_joint_XX=12963;gnomADv4_1_AC_joint_XY=4987;gnomADv4_1_AF_grpmax_joint=0.2471;gnomADv4_1_AF_joint=0.162725;gnomADv4_1_AF_joint_XX=0.166825;gnomADv4_1_AF_joint_XY=0.152952;gnomADv4_1_AN_grpmax_joint=3448;gnomADv4_1_AN_joint=110309;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=32605;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1119;gnomADv4_1_nhomalt_joint_XX=1119;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2839192 chrX_2839192_A_G A G 49 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=3.611;CADD_Rawscore=0.330635;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-3806A>G|||||||rs5982877||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+8997A>G|||||||rs5982877||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-3806A>G|||||||rs5982877||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-4021A>G|||||||rs5982877||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-4021A>G|||||||rs5982877||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-4021A>G|||||||rs5982877||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-4021A>G|||||||rs5982877||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-4021A>G|||||||rs5982877||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-3806A>G|||||||rs5982877||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+8997A>G|||||||rs5982877||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-3806A>G|||||||rs5982877||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-4021A>G|||||||rs5982877||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-3806A>G|||||||rs5982877||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-3806A>G|||||||rs5982877||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-3806A>G|||||||rs5982877||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-4021A>G|||||||rs5982877||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-4021A>G|||||||rs5982877||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-3806A>G|||||||rs5982877||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-4021A>G|||||||rs5982877||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-4021A>G|||||||rs5982877||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-4021A>G|||||||rs5982877||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-3806A>G|||||||rs5982877||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2839192A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-4021A>G|||||||rs5982877||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2839192A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|1|-1|-1|-39;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36497;gnomADv4_1_AC_joint_XX=26049;gnomADv4_1_AC_joint_XY=10448;gnomADv4_1_AF_grpmax_joint=0.420856;gnomADv4_1_AF_joint=0.330218;gnomADv4_1_AF_joint_XX=0.335147;gnomADv4_1_AF_joint_XY=0.318537;gnomADv4_1_AN_grpmax_joint=3481;gnomADv4_1_AN_joint=110524;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=32800;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4446;gnomADv4_1_nhomalt_joint_XX=4446;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2839358 chrX_2839358_C_T C T 53 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=1.111;CADD_Rawscore=0.009403;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-3640C>T|||||||rs5982878||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+9163C>T|||||||rs5982878||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-3640C>T|||||||rs5982878||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-3855C>T|||||||rs5982878||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-3855C>T|||||||rs5982878||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-3855C>T|||||||rs5982878||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-3855C>T|||||||rs5982878||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-3855C>T|||||||rs5982878||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-3640C>T|||||||rs5982878||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+9163C>T|||||||rs5982878||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-3640C>T|||||||rs5982878||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-3855C>T|||||||rs5982878||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-3640C>T|||||||rs5982878||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-3640C>T|||||||rs5982878||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-3640C>T|||||||rs5982878||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-3855C>T|||||||rs5982878||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-3855C>T|||||||rs5982878||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-3640C>T|||||||rs5982878||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-3855C>T|||||||rs5982878||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-3855C>T|||||||rs5982878||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-3855C>T|||||||rs5982878||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-3640C>T|||||||rs5982878||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2839358C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-3855C>T|||||||rs5982878||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2839358C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|20|-1|-1|20;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36314;gnomADv4_1_AC_joint_XX=26017;gnomADv4_1_AC_joint_XY=10297;gnomADv4_1_AF_grpmax_joint=0.423977;gnomADv4_1_AF_joint=0.330952;gnomADv4_1_AF_joint_XX=0.335055;gnomADv4_1_AF_joint_XY=0.321019;gnomADv4_1_AN_grpmax_joint=3420;gnomADv4_1_AN_joint=109726;gnomADv4_1_AN_joint_XX=77650;gnomADv4_1_AN_joint_XY=32076;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4434;gnomADv4_1_nhomalt_joint_XX=4434;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2839707 chrX_2839707_G_A G A 53 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=1.398;CADD_Rawscore=0.069533;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-3291G>A|||||||rs4892895||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+9512G>A|||||||rs4892895||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-3291G>A|||||||rs4892895||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-3506G>A|||||||rs4892895||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-3506G>A|||||||rs4892895||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-3506G>A|||||||rs4892895||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-3506G>A|||||||rs4892895||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-3506G>A|||||||rs4892895||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-3291G>A|||||||rs4892895||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+9512G>A|||||||rs4892895||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-3291G>A|||||||rs4892895||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-3506G>A|||||||rs4892895||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-3291G>A|||||||rs4892895||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-3291G>A|||||||rs4892895||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-3291G>A|||||||rs4892895||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-3506G>A|||||||rs4892895||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-3506G>A|||||||rs4892895||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-3291G>A|||||||rs4892895||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-3506G>A|||||||rs4892895||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-3506G>A|||||||rs4892895||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-3506G>A|||||||rs4892895||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-3291G>A|||||||rs4892895||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2839707G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-3506G>A|||||||rs4892895||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2839707G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-8|-23|-12|43;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=100588;gnomADv4_1_AC_joint_XX=70551;gnomADv4_1_AC_joint_XY=30037;gnomADv4_1_AF_grpmax_joint=0.993911;gnomADv4_1_AF_joint=0.909879;gnomADv4_1_AF_joint_XX=0.907082;gnomADv4_1_AF_joint_XY=0.916517;gnomADv4_1_AN_grpmax_joint=53044;gnomADv4_1_AN_joint=110551;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=32773;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=32564;gnomADv4_1_nhomalt_joint_XX=32564;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2839713 chrX_2839713_T_C T C 48 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=3.983;CADD_Rawscore=0.363695;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-3285T>C|||||||rs5982879||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+9518T>C|||||||rs5982879||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-3285T>C|||||||rs5982879||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-3500T>C|||||||rs5982879||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-3500T>C|||||||rs5982879||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-3500T>C|||||||rs5982879||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-3500T>C|||||||rs5982879||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-3500T>C|||||||rs5982879||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-3285T>C|||||||rs5982879||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+9518T>C|||||||rs5982879||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-3285T>C|||||||rs5982879||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-3500T>C|||||||rs5982879||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-3285T>C|||||||rs5982879||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-3285T>C|||||||rs5982879||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-3285T>C|||||||rs5982879||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-3500T>C|||||||rs5982879||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-3500T>C|||||||rs5982879||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-3285T>C|||||||rs5982879||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-3500T>C|||||||rs5982879||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-3500T>C|||||||rs5982879||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-3500T>C|||||||rs5982879||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-3285T>C|||||||rs5982879||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2839713T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-3500T>C|||||||rs5982879||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2839713T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|1|-18|1|-18;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36888;gnomADv4_1_AC_joint_XX=26095;gnomADv4_1_AC_joint_XY=10793;gnomADv4_1_AF_grpmax_joint=0.431949;gnomADv4_1_AF_joint=0.333291;gnomADv4_1_AF_joint_XX=0.335644;gnomADv4_1_AF_joint_XY=0.327736;gnomADv4_1_AN_grpmax_joint=3468;gnomADv4_1_AN_joint=110678;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=32932;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4449;gnomADv4_1_nhomalt_joint_XX=4449;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2839742 chrX_2839742_G_A G A 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=36;CADD_PHREDscore=0.339;CADD_Rawscore=-0.290851;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-3256G>A|||||||rs4892896||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+9547G>A|||||||rs4892896||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-3256G>A|||||||rs4892896||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-3471G>A|||||||rs4892896||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-3471G>A|||||||rs4892896||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-3471G>A|||||||rs4892896||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-3471G>A|||||||rs4892896||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-3471G>A|||||||rs4892896||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-3256G>A|||||||rs4892896||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+9547G>A|||||||rs4892896||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-3256G>A|||||||rs4892896||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-3471G>A|||||||rs4892896||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-3256G>A|||||||rs4892896||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-3256G>A|||||||rs4892896||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-3256G>A|||||||rs4892896||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-3471G>A|||||||rs4892896||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-3471G>A|||||||rs4892896||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-3256G>A|||||||rs4892896||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-3471G>A|||||||rs4892896||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-3471G>A|||||||rs4892896||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-3471G>A|||||||rs4892896||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-3256G>A|||||||rs4892896||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2839742G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-3471G>A|||||||rs4892896||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2839742G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-47|-48|-18|-47;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=63589;gnomADv4_1_AC_joint_XX=44570;gnomADv4_1_AC_joint_XY=19019;gnomADv4_1_AF_grpmax_joint=0.652758;gnomADv4_1_AF_joint=0.575242;gnomADv4_1_AF_joint_XX=0.573203;gnomADv4_1_AF_joint_XY=0.580077;gnomADv4_1_AN_grpmax_joint=52891;gnomADv4_1_AN_joint=110543;gnomADv4_1_AN_joint_XX=77756;gnomADv4_1_AN_joint_XY=32787;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13309;gnomADv4_1_nhomalt_joint_XX=13309;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2841004 chrX_2841004_TATAG_T TATAG T 45 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADDIndel_PHREDscore=0.81;CADDIndel_Rawscore=-0.071859;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-1980_8-1977del|||||||rs10616333||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+10823_197+10826del|||||||rs10616333||1||HGNC|HGNC:4700|2||||||||Ensembl||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-1980_8-1977del|||||||rs10616333||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-2195_8-2192del|||||||rs10616333||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-2195_136-2192del|||||||rs10616333||1||HGNC|HGNC:4700|3||||||||Ensembl||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-2195_8-2192del|||||||rs10616333||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-2195_8-2192del|||||||rs10616333||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-2195_8-2192del|||||||rs10616333||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-1980_8-1977del|||||||rs10616333||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+10823_-317+10826del|||||||rs10616333||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-1980_8-1977del|||||||rs10616333||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-2195_8-2192del|||||||rs10616333||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-1980_8-1977del|||||||rs10616333||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-1980_8-1977del|||||||rs10616333||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-1980_8-1977del|||||||rs10616333||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-2195_8-2192del|||||||rs10616333||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-2195_8-2192del|||||||rs10616333||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-1980_8-1977del|||||||rs10616333||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-2195_8-2192del|||||||rs10616333||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-2195_8-2192del|||||||rs10616333||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-2195_8-2192del|||||||rs10616333||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-1980_8-1977del|||||||rs10616333||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-2195_8-2192del|||||||rs10616333||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||ATAG|ATAG|||13|chrX:g.2841018_2841021del|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|33|46|20|-28;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=79304;gnomADv4_1_AC_joint_XX=57989;gnomADv4_1_AC_joint_XY=21315;gnomADv4_1_AF_grpmax_joint=0.810203;gnomADv4_1_AF_joint=0.749565;gnomADv4_1_AF_joint_XX=0.75055;gnomADv4_1_AF_joint_XY=0.746899;gnomADv4_1_AN_grpmax_joint=3293;gnomADv4_1_AN_joint=105800;gnomADv4_1_AN_joint_XX=77262;gnomADv4_1_AN_joint_XY=28538;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=21957;gnomADv4_1_nhomalt_joint_XX=21957;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2841364 chrX_2841364_TGATA_T TGATA T 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=0.992;CADDIndel_Rawscore=-0.019982;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-1626_8-1623del|||||||rs67976306||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+11177_197+11180del|||||||rs67976306||1||HGNC|HGNC:4700|2||||||||Ensembl||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-1626_8-1623del|||||||rs67976306||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-1841_8-1838del|||||||rs67976306||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-1841_136-1838del|||||||rs67976306||1||HGNC|HGNC:4700|3||||||||Ensembl||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-1841_8-1838del|||||||rs67976306||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-1841_8-1838del|||||||rs67976306||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-1841_8-1838del|||||||rs67976306||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-1626_8-1623del|||||||rs67976306||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+11177_-317+11180del|||||||rs67976306||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-1626_8-1623del|||||||rs67976306||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-1841_8-1838del|||||||rs67976306||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-1626_8-1623del|||||||rs67976306||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-1626_8-1623del|||||||rs67976306||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-1626_8-1623del|||||||rs67976306||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-1841_8-1838del|||||||rs67976306||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-1841_8-1838del|||||||rs67976306||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-1626_8-1623del|||||||rs67976306||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-1841_8-1838del|||||||rs67976306||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-1841_8-1838del|||||||rs67976306||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-1841_8-1838del|||||||rs67976306||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-1626_8-1623del|||||||rs67976306||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-1841_8-1838del|||||||rs67976306||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||GATA|GATA|||7|chrX:g.2841372_2841375del|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|10|48|-33|-29;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61015;gnomADv4_1_AC_joint_XX=44286;gnomADv4_1_AC_joint_XY=16729;gnomADv4_1_AF_grpmax_joint=0.651018;gnomADv4_1_AF_joint=0.572916;gnomADv4_1_AF_joint_XX=0.574979;gnomADv4_1_AF_joint_XY=0.567527;gnomADv4_1_AN_grpmax_joint=51527;gnomADv4_1_AN_joint=106499;gnomADv4_1_AN_joint_XX=77022;gnomADv4_1_AN_joint_XY=29477;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13188;gnomADv4_1_nhomalt_joint_XX=13188;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2841574 chrX_2841574_C_G C G 51 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=0.143;CADD_Rawscore=-0.515241;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-1424C>G|||||||rs11152548||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+11379C>G|||||||rs11152548||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-1424C>G|||||||rs11152548||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-1639C>G|||||||rs11152548||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-1639C>G|||||||rs11152548||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-1639C>G|||||||rs11152548||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-1639C>G|||||||rs11152548||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-1639C>G|||||||rs11152548||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-1424C>G|||||||rs11152548||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+11379C>G|||||||rs11152548||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-1424C>G|||||||rs11152548||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-1639C>G|||||||rs11152548||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-1424C>G|||||||rs11152548||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-1424C>G|||||||rs11152548||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-1424C>G|||||||rs11152548||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-1639C>G|||||||rs11152548||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-1639C>G|||||||rs11152548||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-1424C>G|||||||rs11152548||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-1639C>G|||||||rs11152548||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-1639C>G|||||||rs11152548||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-1639C>G|||||||rs11152548||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-1424C>G|||||||rs11152548||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2841574C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-1639C>G|||||||rs11152548||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2841574C>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|0|8|0|8;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36775;gnomADv4_1_AC_joint_XX=26103;gnomADv4_1_AC_joint_XY=10672;gnomADv4_1_AF_grpmax_joint=0.439801;gnomADv4_1_AF_joint=0.332878;gnomADv4_1_AF_joint_XX=0.335955;gnomADv4_1_AF_joint_XY=0.325584;gnomADv4_1_AN_grpmax_joint=2608;gnomADv4_1_AN_joint=110476;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=32778;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4457;gnomADv4_1_nhomalt_joint_XX=4457;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2842019 chrX_2842019_T_C T C 56 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=3.884;CADD_Rawscore=0.354937;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-979T>C|||||||rs4892897||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.197+11824T>C|||||||rs4892897||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-979T>C|||||||rs4892897||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-1194T>C|||||||rs4892897||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-1194T>C|||||||rs4892897||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-1194T>C|||||||rs4892897||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-1194T>C|||||||rs4892897||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-1194T>C|||||||rs4892897||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-979T>C|||||||rs4892897||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-317+11824T>C|||||||rs4892897||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-979T>C|||||||rs4892897||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-1194T>C|||||||rs4892897||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-979T>C|||||||rs4892897||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-979T>C|||||||rs4892897||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-979T>C|||||||rs4892897||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-1194T>C|||||||rs4892897||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-1194T>C|||||||rs4892897||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-979T>C|||||||rs4892897||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-1194T>C|||||||rs4892897||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-1194T>C|||||||rs4892897||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-1194T>C|||||||rs4892897||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-979T>C|||||||rs4892897||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2842019T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-1194T>C|||||||rs4892897||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2842019T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|14|-11|27|-39;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36619;gnomADv4_1_AC_joint_XX=26051;gnomADv4_1_AC_joint_XY=10568;gnomADv4_1_AF_grpmax_joint=0.424496;gnomADv4_1_AF_joint=0.33134;gnomADv4_1_AF_joint_XX=0.335216;gnomADv4_1_AF_joint_XY=0.322156;gnomADv4_1_AN_grpmax_joint=3470;gnomADv4_1_AN_joint=110518;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=32804;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4443;gnomADv4_1_nhomalt_joint_XX=4443;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2842185 chrX_2842185_C_CTTTCTTT C CTTTCTTT 41 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=41;CADDIndel_PHREDscore=0.46;CADDIndel_Rawscore=-0.214219;CSQ=TTTCTTT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-795_8-789dup|||||||rs58249720||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-11777_198-11771dup|||||||rs58249720||1||HGNC|HGNC:4700|2||||||||Ensembl||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-795_8-789dup|||||||rs58249720||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-1010_8-1004dup|||||||rs58249720||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-1010_136-1004dup|||||||rs58249720||1||HGNC|HGNC:4700|3||||||||Ensembl||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-1010_8-1004dup|||||||rs58249720||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-1010_8-1004dup|||||||rs58249720||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-1010_8-1004dup|||||||rs58249720||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-795_8-789dup|||||||rs58249720||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-11777_-316-11771dup|||||||rs58249720||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-795_8-789dup|||||||rs58249720||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-1010_8-1004dup|||||||rs58249720||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-795_8-789dup|||||||rs58249720||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-795_8-789dup|||||||rs58249720||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-795_8-789dup|||||||rs58249720||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-1010_8-1004dup|||||||rs58249720||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-1010_8-1004dup|||||||rs58249720||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-795_8-789dup|||||||rs58249720||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-1010_8-1004dup|||||||rs58249720||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-1010_8-1004dup|||||||rs58249720||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-1010_8-1004dup|||||||rs58249720||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-795_8-789dup|||||||rs58249720||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||24|chrX:g.2842203_2842209dup|||||||||||||,TTTCTTT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-1010_8-1004dup|||||||rs58249720||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||24|chrX:g.2842203_2842209dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT,TTTCTTT;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55079;gnomADv4_1_AC_joint_XX=42975;gnomADv4_1_AC_joint_XY=12104;gnomADv4_1_AF_grpmax_joint=0.636152;gnomADv4_1_AF_joint=0.538107;gnomADv4_1_AF_joint_XX=0.562323;gnomADv4_1_AF_joint_XY=0.466741;gnomADv4_1_AN_grpmax_joint=50337;gnomADv4_1_AN_joint=102357;gnomADv4_1_AN_joint_XX=76424;gnomADv4_1_AN_joint_XY=25933;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=12748;gnomADv4_1_nhomalt_joint_XX=12748;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2842253 chrX_2842253_A_G A G 58 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=1.788;CADD_Rawscore=0.13433;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-745A>G|||||||rs5982880||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-11727A>G|||||||rs5982880||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-745A>G|||||||rs5982880||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-960A>G|||||||rs5982880||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-960A>G|||||||rs5982880||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-960A>G|||||||rs5982880||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-960A>G|||||||rs5982880||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-960A>G|||||||rs5982880||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-745A>G|||||||rs5982880||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-11727A>G|||||||rs5982880||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-745A>G|||||||rs5982880||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-960A>G|||||||rs5982880||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-745A>G|||||||rs5982880||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-745A>G|||||||rs5982880||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-745A>G|||||||rs5982880||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-960A>G|||||||rs5982880||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-960A>G|||||||rs5982880||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-745A>G|||||||rs5982880||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-960A>G|||||||rs5982880||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-960A>G|||||||rs5982880||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-960A>G|||||||rs5982880||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-745A>G|||||||rs5982880||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2842253A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-960A>G|||||||rs5982880||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2842253A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-39|-33|-39|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36054;gnomADv4_1_AC_joint_XX=26019;gnomADv4_1_AC_joint_XY=10035;gnomADv4_1_AF_grpmax_joint=0.432981;gnomADv4_1_AF_joint=0.335498;gnomADv4_1_AF_joint_XX=0.336328;gnomADv4_1_AF_joint_XY=0.333367;gnomADv4_1_AN_grpmax_joint=3402;gnomADv4_1_AN_joint=107464;gnomADv4_1_AN_joint_XX=77362;gnomADv4_1_AN_joint_XY=30102;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4442;gnomADv4_1_nhomalt_joint_XX=4442;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2842449 chrX_2842449_G_A G A 53 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=0.415;CADD_Rawscore=-0.239849;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-549G>A|||||||rs5982881||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-11531G>A|||||||rs5982881||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-549G>A|||||||rs5982881||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-764G>A|||||||rs5982881||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-764G>A|||||||rs5982881||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-764G>A|||||||rs5982881||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-764G>A|||||||rs5982881||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-764G>A|||||||rs5982881||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-549G>A|||||||rs5982881||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-11531G>A|||||||rs5982881||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-549G>A|||||||rs5982881||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-764G>A|||||||rs5982881||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-549G>A|||||||rs5982881||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-549G>A|||||||rs5982881||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-549G>A|||||||rs5982881||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-764G>A|||||||rs5982881||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-764G>A|||||||rs5982881||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-549G>A|||||||rs5982881||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-764G>A|||||||rs5982881||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-764G>A|||||||rs5982881||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-764G>A|||||||rs5982881||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-549G>A|||||||rs5982881||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2842449G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-764G>A|||||||rs5982881||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2842449G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|8|-41|-42|21;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20932;gnomADv4_1_AC_joint_XX=15275;gnomADv4_1_AC_joint_XY=5657;gnomADv4_1_AF_grpmax_joint=0.247563;gnomADv4_1_AF_joint=0.193005;gnomADv4_1_AF_joint_XX=0.197199;gnomADv4_1_AF_joint_XY=0.182525;gnomADv4_1_AN_grpmax_joint=3385;gnomADv4_1_AN_joint=108453;gnomADv4_1_AN_joint_XX=77460;gnomADv4_1_AN_joint_XY=30993;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1536;gnomADv4_1_nhomalt_joint_XX=1536;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2842458 chrX_2842458_A_G A G 50 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=1.62;CADD_Rawscore=0.108309;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-540A>G|||||||rs5982882||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-11522A>G|||||||rs5982882||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-540A>G|||||||rs5982882||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-755A>G|||||||rs5982882||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-755A>G|||||||rs5982882||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-755A>G|||||||rs5982882||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-755A>G|||||||rs5982882||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-755A>G|||||||rs5982882||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-540A>G|||||||rs5982882||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-11522A>G|||||||rs5982882||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-540A>G|||||||rs5982882||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-755A>G|||||||rs5982882||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-540A>G|||||||rs5982882||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-540A>G|||||||rs5982882||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-540A>G|||||||rs5982882||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-755A>G|||||||rs5982882||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-755A>G|||||||rs5982882||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-540A>G|||||||rs5982882||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-755A>G|||||||rs5982882||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-755A>G|||||||rs5982882||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-755A>G|||||||rs5982882||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-540A>G|||||||rs5982882||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2842458A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-755A>G|||||||rs5982882||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2842458A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-50|13|12|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35891;gnomADv4_1_AC_joint_XX=25971;gnomADv4_1_AC_joint_XY=9920;gnomADv4_1_AF_grpmax_joint=0.434835;gnomADv4_1_AF_joint=0.331083;gnomADv4_1_AF_joint_XX=0.335075;gnomADv4_1_AF_joint_XY=0.321067;gnomADv4_1_AN_grpmax_joint=2486;gnomADv4_1_AN_joint=108405;gnomADv4_1_AN_joint_XX=77508;gnomADv4_1_AN_joint_XY=30897;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4409;gnomADv4_1_nhomalt_joint_XX=4409;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2842743 chrX_2842743_GTGTTT_G GTGTTT G 47 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADDIndel_PHREDscore=0.514;CADDIndel_Rawscore=-0.186444;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-244_8-240del|||||||rs55921940||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-11226_198-11222del|||||||rs55921940||1||HGNC|HGNC:4700|2||||||||Ensembl||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-244_8-240del|||||||rs55921940||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-459_8-455del|||||||rs55921940||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-459_136-455del|||||||rs55921940||1||HGNC|HGNC:4700|3||||||||Ensembl||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-459_8-455del|||||||rs55921940||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-459_8-455del|||||||rs55921940||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-459_8-455del|||||||rs55921940||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-244_8-240del|||||||rs55921940||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-11226_-316-11222del|||||||rs55921940||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-244_8-240del|||||||rs55921940||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-459_8-455del|||||||rs55921940||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-244_8-240del|||||||rs55921940||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-244_8-240del|||||||rs55921940||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-244_8-240del|||||||rs55921940||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-459_8-455del|||||||rs55921940||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-459_8-455del|||||||rs55921940||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-244_8-240del|||||||rs55921940||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-459_8-455del|||||||rs55921940||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-459_8-455del|||||||rs55921940||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-459_8-455del|||||||rs55921940||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-244_8-240del|||||||rs55921940||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-459_8-455del|||||||rs55921940||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||TGTTT|TGTTT|||10|chrX:g.2842754_2842758del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=60325;gnomADv4_1_AC_joint_XX=44240;gnomADv4_1_AC_joint_XY=16085;gnomADv4_1_AF_grpmax_joint=0.649502;gnomADv4_1_AF_joint=0.564989;gnomADv4_1_AF_joint_XX=0.571606;gnomADv4_1_AF_joint_XY=0.547556;gnomADv4_1_AN_grpmax_joint=51889;gnomADv4_1_AN_joint=106772;gnomADv4_1_AN_joint_XX=77396;gnomADv4_1_AN_joint_XY=29376;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=13193;gnomADv4_1_nhomalt_joint_XX=13193;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2842816 chrX_2842816_A_AT A AT 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.333333;AF_XX=0.5;AF_XY=0.0;AN=3;AN_XX=2;AN_XY=1;AQ=35;CADDIndel_PHREDscore=1.013;CADDIndel_Rawscore=-0.014599;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-166dup|||||||rs397823825||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-11148dup|||||||rs397823825||1||HGNC|HGNC:4700|2||||||||Ensembl||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-166dup|||||||rs397823825||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-381dup|||||||rs397823825||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-381dup|||||||rs397823825||1||HGNC|HGNC:4700|3||||||||Ensembl||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-381dup|||||||rs397823825||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-381dup|||||||rs397823825||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-381dup|||||||rs397823825||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-166dup|||||||rs397823825||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-11148dup|||||||rs397823825||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-166dup|||||||rs397823825||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-381dup|||||||rs397823825||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-166dup|||||||rs397823825||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-166dup|||||||rs397823825||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-166dup|||||||rs397823825||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-381dup|||||||rs397823825||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-381dup|||||||rs397823825||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-166dup|||||||rs397823825||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-381dup|||||||rs397823825||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-381dup|||||||rs397823825||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-381dup|||||||rs397823825||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-166dup|||||||rs397823825||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||16|chrX:g.2842832dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-381dup|||||||rs397823825||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||16|chrX:g.2842832dup|||||||||||||;SpliceAI=AT|GYG2|0.00|0.00|0.00|0.00|24|44|24|-41;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47058;gnomADv4_1_AC_joint_XX=37765;gnomADv4_1_AC_joint_XY=9293;gnomADv4_1_AF_grpmax_joint=0.643156;gnomADv4_1_AF_joint=0.499628;gnomADv4_1_AF_joint_XX=0.516381;gnomADv4_1_AF_joint_XY=0.441431;gnomADv4_1_AN_grpmax_joint=47539;gnomADv4_1_AN_joint=94186;gnomADv4_1_AN_joint_XX=73134;gnomADv4_1_AN_joint_XY=21052;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10974;gnomADv4_1_nhomalt_joint_XX=10974;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2842935 chrX_2842935_T_G T G 52 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=5.124;CADD_Rawscore=0.467504;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||1/8|ENST00000353656.10:c.8-63T>G|||||||rs5982883||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-11045T>G|||||||rs5982883||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||2/11|ENST00000381163.7:c.8-63T>G|||||||rs5982883||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||2/10|ENST00000398806.8:c.8-278T>G|||||||rs5982883||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||1/3|ENST00000469234.6:n.136-278T>G|||||||rs5982883||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||2/4|ENST00000520904.3:c.8-278T>G|||||||rs5982883||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||2/10|NM_001079855.2:c.8-278T>G|||||||rs5982883||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||2/10|NM_001184702.2:c.8-278T>G|||||||rs5982883||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||2/9|NM_001184703.2:c.8-63T>G|||||||rs5982883||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-11045T>G|||||||rs5982883||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||2/11|NM_003918.3:c.8-63T>G|||||||rs5982883||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||2/10|XM_011545600.3:c.8-278T>G|||||||rs5982883||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||2/11|XM_017029927.2:c.8-63T>G|||||||rs5982883||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||2/11|XM_017029928.2:c.8-63T>G|||||||rs5982883||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||2/11|XM_017029929.2:c.8-63T>G|||||||rs5982883||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||2/8|XM_017029930.2:c.8-278T>G|||||||rs5982883||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||2/8|XM_017029931.2:c.8-278T>G|||||||rs5982883||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||2/11|XM_047442608.1:c.8-63T>G|||||||rs5982883||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||2/10|XM_047442609.1:c.8-278T>G|||||||rs5982883||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||2/10|XM_047442610.1:c.8-278T>G|||||||rs5982883||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||2/10|XM_047442611.1:c.8-278T>G|||||||rs5982883||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||2/9|XM_047442612.1:c.8-63T>G|||||||rs5982883||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2842935T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||2/8|XM_047442613.1:c.8-278T>G|||||||rs5982883||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2842935T>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2842935T>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=1234757;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|41|11|12|-20;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=116046;gnomADv4_1_AC_joint_XX=80008;gnomADv4_1_AC_joint_XY=36038;gnomADv4_1_AF_grpmax_joint=0.425817;gnomADv4_1_AF_joint=0.347332;gnomADv4_1_AF_joint_XX=0.343049;gnomADv4_1_AF_joint_XY=0.357233;gnomADv4_1_AN_grpmax_joint=30236;gnomADv4_1_AN_joint=334107;gnomADv4_1_AN_joint_XX=233226;gnomADv4_1_AN_joint_XY=100881;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=14037;gnomADv4_1_nhomalt_joint_XX=14037;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2843683 chrX_2843683_A_G A G 53 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=1.828;CADD_Rawscore=0.140151;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+329A>G|||||||rs5982884||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-10297A>G|||||||rs5982884||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+329A>G|||||||rs5982884||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+329A>G|||||||rs5982884||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+329A>G|||||||rs5982884||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+329A>G|||||||rs5982884||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+329A>G|||||||rs5982884||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+329A>G|||||||rs5982884||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+329A>G|||||||rs5982884||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-10297A>G|||||||rs5982884||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+329A>G|||||||rs5982884||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+329A>G|||||||rs5982884||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+329A>G|||||||rs5982884||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+329A>G|||||||rs5982884||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+329A>G|||||||rs5982884||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+329A>G|||||||rs5982884||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+329A>G|||||||rs5982884||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+329A>G|||||||rs5982884||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+329A>G|||||||rs5982884||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+329A>G|||||||rs5982884||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+329A>G|||||||rs5982884||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+329A>G|||||||rs5982884||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2843683A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+329A>G|||||||rs5982884||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2843683A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|42|-28|-47|-28;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41930;gnomADv4_1_AC_joint_XX=29765;gnomADv4_1_AC_joint_XY=12165;gnomADv4_1_AF_grpmax_joint=0.477993;gnomADv4_1_AF_joint=0.377891;gnomADv4_1_AF_joint_XX=0.382948;gnomADv4_1_AF_joint_XY=0.366063;gnomADv4_1_AN_grpmax_joint=30536;gnomADv4_1_AN_joint=110958;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=33232;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5928;gnomADv4_1_nhomalt_joint_XX=5928;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2843876 chrX_2843876_A_G A G 58 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=2.793;CADD_Rawscore=0.254243;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+522A>G|||||||rs5982885||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-10104A>G|||||||rs5982885||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+522A>G|||||||rs5982885||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+522A>G|||||||rs5982885||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+522A>G|||||||rs5982885||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+522A>G|||||||rs5982885||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+522A>G|||||||rs5982885||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+522A>G|||||||rs5982885||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+522A>G|||||||rs5982885||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-10104A>G|||||||rs5982885||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+522A>G|||||||rs5982885||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+522A>G|||||||rs5982885||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+522A>G|||||||rs5982885||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+522A>G|||||||rs5982885||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+522A>G|||||||rs5982885||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+522A>G|||||||rs5982885||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+522A>G|||||||rs5982885||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+522A>G|||||||rs5982885||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+522A>G|||||||rs5982885||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+522A>G|||||||rs5982885||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+522A>G|||||||rs5982885||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+522A>G|||||||rs5982885||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2843876A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+522A>G|||||||rs5982885||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2843876A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-49|15|14|15;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36810;gnomADv4_1_AC_joint_XX=26071;gnomADv4_1_AC_joint_XY=10739;gnomADv4_1_AF_grpmax_joint=0.429717;gnomADv4_1_AF_joint=0.33231;gnomADv4_1_AF_joint_XX=0.335396;gnomADv4_1_AF_joint_XY=0.32505;gnomADv4_1_AN_grpmax_joint=2618;gnomADv4_1_AN_joint=110770;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=33038;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=4444;gnomADv4_1_nhomalt_joint_XX=4444;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2844137 chrX_2844137_G_A G A 53 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=0.347;CADD_Rawscore=-0.285262;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+783G>A|||||||rs5982592||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-9843G>A|||||||rs5982592||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+783G>A|||||||rs5982592||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+783G>A|||||||rs5982592||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+783G>A|||||||rs5982592||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+783G>A|||||||rs5982592||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+783G>A|||||||rs5982592||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+783G>A|||||||rs5982592||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+783G>A|||||||rs5982592||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-9843G>A|||||||rs5982592||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+783G>A|||||||rs5982592||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+783G>A|||||||rs5982592||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+783G>A|||||||rs5982592||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+783G>A|||||||rs5982592||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+783G>A|||||||rs5982592||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+783G>A|||||||rs5982592||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+783G>A|||||||rs5982592||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+783G>A|||||||rs5982592||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+783G>A|||||||rs5982592||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+783G>A|||||||rs5982592||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+783G>A|||||||rs5982592||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+783G>A|||||||rs5982592||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2844137G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+783G>A|||||||rs5982592||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2844137G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|3|-9|30|17;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36834;gnomADv4_1_AC_joint_XX=26019;gnomADv4_1_AC_joint_XY=10815;gnomADv4_1_AF_grpmax_joint=0.427027;gnomADv4_1_AF_joint=0.332026;gnomADv4_1_AF_joint_XX=0.334718;gnomADv4_1_AF_joint_XY=0.325724;gnomADv4_1_AN_grpmax_joint=3515;gnomADv4_1_AN_joint=110937;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=33203;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=4429;gnomADv4_1_nhomalt_joint_XX=4429;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2844366 chrX_2844366_C_G C G 53 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=1.711;CADD_Rawscore=0.122771;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+1012C>G|||||||rs5982886||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-9614C>G|||||||rs5982886||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+1012C>G|||||||rs5982886||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+1012C>G|||||||rs5982886||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+1012C>G|||||||rs5982886||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+1012C>G|||||||rs5982886||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+1012C>G|||||||rs5982886||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+1012C>G|||||||rs5982886||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+1012C>G|||||||rs5982886||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-9614C>G|||||||rs5982886||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+1012C>G|||||||rs5982886||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+1012C>G|||||||rs5982886||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+1012C>G|||||||rs5982886||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+1012C>G|||||||rs5982886||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+1012C>G|||||||rs5982886||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+1012C>G|||||||rs5982886||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+1012C>G|||||||rs5982886||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+1012C>G|||||||rs5982886||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+1012C>G|||||||rs5982886||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+1012C>G|||||||rs5982886||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+1012C>G|||||||rs5982886||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+1012C>G|||||||rs5982886||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2844366C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+1012C>G|||||||rs5982886||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2844366C>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-21|23|-1|-8;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18294;gnomADv4_1_AC_joint_XX=12974;gnomADv4_1_AC_joint_XY=5320;gnomADv4_1_AF_grpmax_joint=0.255078;gnomADv4_1_AF_joint=0.165123;gnomADv4_1_AF_joint_XX=0.166928;gnomADv4_1_AF_joint_XY=0.160881;gnomADv4_1_AN_grpmax_joint=3446;gnomADv4_1_AN_joint=110790;gnomADv4_1_AN_joint_XX=77722;gnomADv4_1_AN_joint_XY=33068;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1115;gnomADv4_1_nhomalt_joint_XX=1115;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2844524 chrX_2844524_G_A G A 34 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.666667;AF_XX=0.5;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=34;CADD_PHREDscore=1.122;CADD_Rawscore=0.012018;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+1170G>A|||||||rs184978572||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-9456G>A|||||||rs184978572||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+1170G>A|||||||rs184978572||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+1170G>A|||||||rs184978572||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+1170G>A|||||||rs184978572||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+1170G>A|||||||rs184978572||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+1170G>A|||||||rs184978572||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+1170G>A|||||||rs184978572||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+1170G>A|||||||rs184978572||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-9456G>A|||||||rs184978572||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+1170G>A|||||||rs184978572||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+1170G>A|||||||rs184978572||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+1170G>A|||||||rs184978572||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+1170G>A|||||||rs184978572||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+1170G>A|||||||rs184978572||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+1170G>A|||||||rs184978572||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+1170G>A|||||||rs184978572||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+1170G>A|||||||rs184978572||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+1170G>A|||||||rs184978572||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+1170G>A|||||||rs184978572||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+1170G>A|||||||rs184978572||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+1170G>A|||||||rs184978572||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2844524G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+1170G>A|||||||rs184978572||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2844524G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|2|-2|5|-27;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=148;gnomADv4_1_AC_joint_XX=136;gnomADv4_1_AC_joint_XY=12;gnomADv4_1_AF_grpmax_joint=0.0070922;gnomADv4_1_AF_joint=0.00218919;gnomADv4_1_AF_joint_XX=0.00274326;gnomADv4_1_AF_joint_XY=0.000665594;gnomADv4_1_AN_grpmax_joint=1692;gnomADv4_1_AN_joint=67605;gnomADv4_1_AN_joint_XX=49576;gnomADv4_1_AN_joint_XY=18029;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2844530 chrX_2844530_GTA_G GTA G 19 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=19;CADDIndel_PHREDscore=0.476;CADDIndel_Rawscore=-0.205717;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+1182_242+1183del|||||||rs72293649||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-9444_198-9443del|||||||rs72293649||1||HGNC|HGNC:4700|2||||||||Ensembl||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+1182_242+1183del|||||||rs72293649||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+1182_149+1183del|||||||rs72293649||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+1182_277+1183del|||||||rs72293649||1||HGNC|HGNC:4700|3||||||||Ensembl||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+1182_149+1183del|||||||rs72293649||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+1182_149+1183del|||||||rs72293649||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+1182_149+1183del|||||||rs72293649||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+1182_242+1183del|||||||rs72293649||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-9444_-316-9443del|||||||rs72293649||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+1182_242+1183del|||||||rs72293649||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+1182_149+1183del|||||||rs72293649||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+1182_242+1183del|||||||rs72293649||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+1182_242+1183del|||||||rs72293649||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+1182_242+1183del|||||||rs72293649||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+1182_149+1183del|||||||rs72293649||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+1182_149+1183del|||||||rs72293649||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+1182_242+1183del|||||||rs72293649||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+1182_149+1183del|||||||rs72293649||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+1182_149+1183del|||||||rs72293649||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+1182_149+1183del|||||||rs72293649||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+1182_242+1183del|||||||rs72293649||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+1182_149+1183del|||||||rs72293649||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||TA|TA|||5|chrX:g.2844536_2844537del|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-8|-40|-33|-49;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1054;gnomADv4_1_AC_joint_XX=918;gnomADv4_1_AC_joint_XY=136;gnomADv4_1_AF_grpmax_joint=0.0783207;gnomADv4_1_AF_joint=0.0230151;gnomADv4_1_AF_joint_XX=0.0303632;gnomADv4_1_AF_joint_XY=0.00873924;gnomADv4_1_AN_grpmax_joint=10457;gnomADv4_1_AN_joint=45796;gnomADv4_1_AN_joint_XX=30234;gnomADv4_1_AN_joint_XY=15562;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=103;gnomADv4_1_nhomalt_joint_XX=103;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2844553 chrX_2844553_CAT_C CAT C 13 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=13;CADDIndel_PHREDscore=1.298;CADDIndel_Rawscore=0.050129;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+1200_242+1201del|||||||rs377428832||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-9426_198-9425del|||||||rs377428832||1||HGNC|HGNC:4700|2||||||||Ensembl||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+1200_242+1201del|||||||rs377428832||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+1200_149+1201del|||||||rs377428832||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+1200_277+1201del|||||||rs377428832||1||HGNC|HGNC:4700|3||||||||Ensembl||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+1200_149+1201del|||||||rs377428832||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+1200_149+1201del|||||||rs377428832||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+1200_149+1201del|||||||rs377428832||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+1200_242+1201del|||||||rs377428832||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-9426_-316-9425del|||||||rs377428832||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+1200_242+1201del|||||||rs377428832||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+1200_149+1201del|||||||rs377428832||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+1200_242+1201del|||||||rs377428832||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+1200_242+1201del|||||||rs377428832||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+1200_242+1201del|||||||rs377428832||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+1200_149+1201del|||||||rs377428832||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+1200_149+1201del|||||||rs377428832||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+1200_242+1201del|||||||rs377428832||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+1200_149+1201del|||||||rs377428832||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+1200_149+1201del|||||||rs377428832||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+1200_149+1201del|||||||rs377428832||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+1200_242+1201del|||||||rs377428832||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||AT|AT||||chrX:g.2844554_2844555del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+1200_149+1201del|||||||rs377428832||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||AT|AT||||chrX:g.2844554_2844555del|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-31|-3|-2|-42;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2;gnomADv4_1_AC_joint_XX=2;gnomADv4_1_AC_joint_XY=0;gnomADv4_1_AF_grpmax_joint=8.364e-05;gnomADv4_1_AF_joint=4.37551e-05;gnomADv4_1_AF_joint_XX=6.21775e-05;gnomADv4_1_AF_joint_XY=0.0;gnomADv4_1_AN_grpmax_joint=11956;gnomADv4_1_AN_joint=45709;gnomADv4_1_AN_joint_XX=32166;gnomADv4_1_AN_joint_XY=13543;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2844579 chrX_2844579_CAT_C CAT C 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+1226_242+1227del|||||||rs368703658||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-9400_198-9399del|||||||rs368703658||1||HGNC|HGNC:4700|2||||||||Ensembl||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+1226_242+1227del|||||||rs368703658||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+1226_149+1227del|||||||rs368703658||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+1226_277+1227del|||||||rs368703658||1||HGNC|HGNC:4700|3||||||||Ensembl||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+1226_149+1227del|||||||rs368703658||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+1226_149+1227del|||||||rs368703658||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+1226_149+1227del|||||||rs368703658||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+1226_242+1227del|||||||rs368703658||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-9400_-316-9399del|||||||rs368703658||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+1226_242+1227del|||||||rs368703658||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+1226_149+1227del|||||||rs368703658||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+1226_242+1227del|||||||rs368703658||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+1226_242+1227del|||||||rs368703658||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+1226_242+1227del|||||||rs368703658||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+1226_149+1227del|||||||rs368703658||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+1226_149+1227del|||||||rs368703658||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+1226_242+1227del|||||||rs368703658||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+1226_149+1227del|||||||rs368703658||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+1226_149+1227del|||||||rs368703658||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+1226_149+1227del|||||||rs368703658||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+1226_242+1227del|||||||rs368703658||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||AT|AT||||chrX:g.2844580_2844581del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+1226_149+1227del|||||||rs368703658||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||AT|AT||||chrX:g.2844580_2844581del|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|23|-27|-2|34;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=.;gnomADv4_1_AC_joint_XX=.;gnomADv4_1_AC_joint_XY=.;gnomADv4_1_AF_grpmax_joint=.;gnomADv4_1_AF_joint=.;gnomADv4_1_AF_joint_XX=.;gnomADv4_1_AF_joint_XY=.;gnomADv4_1_AN_grpmax_joint=.;gnomADv4_1_AN_joint=45307;gnomADv4_1_AN_joint_XX=36626;gnomADv4_1_AN_joint_XY=8681;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=.;gnomADv4_1_nhomalt_joint=.;gnomADv4_1_nhomalt_joint_XX=.;gnomADv4_1_nhomalt_joint_XY=.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2844706 chrX_2844706_ACG_A ACG A 20 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=1.0;AF_XX=.;AF_XY=1.0;AN=1;AN_XX=0;AN_XY=1;AQ=20;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+1354_242+1355del|||||||rs77948249||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-9272_198-9271del|||||||rs77948249||1||HGNC|HGNC:4700|2||||||||Ensembl||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+1354_242+1355del|||||||rs77948249||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+1354_149+1355del|||||||rs77948249||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+1354_277+1355del|||||||rs77948249||1||HGNC|HGNC:4700|3||||||||Ensembl||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+1354_149+1355del|||||||rs77948249||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+1354_149+1355del|||||||rs77948249||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+1354_149+1355del|||||||rs77948249||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+1354_242+1355del|||||||rs77948249||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-9272_-316-9271del|||||||rs77948249||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+1354_242+1355del|||||||rs77948249||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+1354_149+1355del|||||||rs77948249||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+1354_242+1355del|||||||rs77948249||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+1354_242+1355del|||||||rs77948249||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+1354_242+1355del|||||||rs77948249||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+1354_149+1355del|||||||rs77948249||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+1354_149+1355del|||||||rs77948249||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+1354_242+1355del|||||||rs77948249||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+1354_149+1355del|||||||rs77948249||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+1354_149+1355del|||||||rs77948249||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+1354_149+1355del|||||||rs77948249||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+1354_242+1355del|||||||rs77948249||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+1354_149+1355del|||||||rs77948249||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||CG|CG|||1|chrX:g.2844708_2844709del|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|4|0|-17|-43;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2844718 chrX_2844718_A_ATG A ATG 25 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=25;CSQ=TG|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+1368_242+1369dup|||||||rs79849972||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-9258_198-9257dup|||||||rs79849972||1||HGNC|HGNC:4700|2||||||||Ensembl||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+1368_242+1369dup|||||||rs79849972||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+1368_149+1369dup|||||||rs79849972||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+1368_277+1369dup|||||||rs79849972||1||HGNC|HGNC:4700|3||||||||Ensembl||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+1368_149+1369dup|||||||rs79849972||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+1368_149+1369dup|||||||rs79849972||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+1368_149+1369dup|||||||rs79849972||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+1368_242+1369dup|||||||rs79849972||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-9258_-316-9257dup|||||||rs79849972||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+1368_242+1369dup|||||||rs79849972||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+1368_149+1369dup|||||||rs79849972||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+1368_242+1369dup|||||||rs79849972||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+1368_242+1369dup|||||||rs79849972||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+1368_242+1369dup|||||||rs79849972||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+1368_149+1369dup|||||||rs79849972||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+1368_149+1369dup|||||||rs79849972||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+1368_242+1369dup|||||||rs79849972||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+1368_149+1369dup|||||||rs79849972||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+1368_149+1369dup|||||||rs79849972||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+1368_149+1369dup|||||||rs79849972||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+1368_242+1369dup|||||||rs79849972||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||5|chrX:g.2844722_2844723dup|||||||||||||,TG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+1368_149+1369dup|||||||rs79849972||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||5|chrX:g.2844722_2844723dup|||||||||||||;TYPE=INDEL;VEP_Allele=TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG,TG;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2844727 chrX_2844727_C_T C T 30 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=30;CADD_PHREDscore=0.688;CADD_Rawscore=-0.113191;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+1373C>T|||||||rs62582300||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-9253C>T|||||||rs62582300||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+1373C>T|||||||rs62582300||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+1373C>T|||||||rs62582300||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+1373C>T|||||||rs62582300||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+1373C>T|||||||rs62582300||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+1373C>T|||||||rs62582300||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+1373C>T|||||||rs62582300||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+1373C>T|||||||rs62582300||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-9253C>T|||||||rs62582300||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+1373C>T|||||||rs62582300||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+1373C>T|||||||rs62582300||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+1373C>T|||||||rs62582300||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+1373C>T|||||||rs62582300||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+1373C>T|||||||rs62582300||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+1373C>T|||||||rs62582300||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+1373C>T|||||||rs62582300||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+1373C>T|||||||rs62582300||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+1373C>T|||||||rs62582300||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+1373C>T|||||||rs62582300||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+1373C>T|||||||rs62582300||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+1373C>T|||||||rs62582300||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2844727C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+1373C>T|||||||rs62582300||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2844727C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|33|1|-6|32;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2844735 chrX_2844735_C_T C T 32 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=32;CADD_PHREDscore=0.967;CADD_Rawscore=-0.026477;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+1381C>T|||||||rs62582301||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-9245C>T|||||||rs62582301||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+1381C>T|||||||rs62582301||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+1381C>T|||||||rs62582301||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+1381C>T|||||||rs62582301||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+1381C>T|||||||rs62582301||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+1381C>T|||||||rs62582301||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+1381C>T|||||||rs62582301||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+1381C>T|||||||rs62582301||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-9245C>T|||||||rs62582301||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+1381C>T|||||||rs62582301||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+1381C>T|||||||rs62582301||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+1381C>T|||||||rs62582301||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+1381C>T|||||||rs62582301||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+1381C>T|||||||rs62582301||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+1381C>T|||||||rs62582301||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+1381C>T|||||||rs62582301||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+1381C>T|||||||rs62582301||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+1381C>T|||||||rs62582301||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+1381C>T|||||||rs62582301||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+1381C>T|||||||rs62582301||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+1381C>T|||||||rs62582301||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2844735C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+1381C>T|||||||rs62582301||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2844735C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|-1|43|-2|24;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6;gnomADv4_1_AC_joint_XX=6;gnomADv4_1_AC_joint_XY=0;gnomADv4_1_AF_grpmax_joint=0.000226296;gnomADv4_1_AF_joint=0.000147091;gnomADv4_1_AF_joint_XX=0.000203569;gnomADv4_1_AF_joint_XY=0.0;gnomADv4_1_AN_grpmax_joint=8838;gnomADv4_1_AN_joint=40791;gnomADv4_1_AN_joint_XX=29474;gnomADv4_1_AN_joint_XY=11317;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2;gnomADv4_1_nhomalt_joint_XX=2;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2844755 chrX_2844755_C_T C T 32 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=32;CADD_PHREDscore=0.745;CADD_Rawscore=-0.093065;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+1401C>T|||||||rs62582302||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-9225C>T|||||||rs62582302||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+1401C>T|||||||rs62582302||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+1401C>T|||||||rs62582302||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+1401C>T|||||||rs62582302||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+1401C>T|||||||rs62582302||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+1401C>T|||||||rs62582302||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+1401C>T|||||||rs62582302||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+1401C>T|||||||rs62582302||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-9225C>T|||||||rs62582302||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+1401C>T|||||||rs62582302||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+1401C>T|||||||rs62582302||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+1401C>T|||||||rs62582302||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+1401C>T|||||||rs62582302||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+1401C>T|||||||rs62582302||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+1401C>T|||||||rs62582302||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+1401C>T|||||||rs62582302||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+1401C>T|||||||rs62582302||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+1401C>T|||||||rs62582302||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+1401C>T|||||||rs62582302||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+1401C>T|||||||rs62582302||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+1401C>T|||||||rs62582302||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2844755C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+1401C>T|||||||rs62582302||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2844755C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|5|3|-6|4;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2282;gnomADv4_1_AC_joint_XX=2261;gnomADv4_1_AC_joint_XY=21;gnomADv4_1_AF_grpmax_joint=0.959904;gnomADv4_1_AF_joint=0.496627;gnomADv4_1_AF_joint_XX=0.598782;gnomADv4_1_AF_joint_XY=0.025641;gnomADv4_1_AN_grpmax_joint=1671;gnomADv4_1_AN_joint=4595;gnomADv4_1_AN_joint_XX=3776;gnomADv4_1_AN_joint_XY=819;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1129;gnomADv4_1_nhomalt_joint_XX=1129;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2844783 chrX_2844783_CAT_C CAT C 23 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=23;CADDIndel_PHREDscore=0.792;CADDIndel_Rawscore=-0.077779;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+1439_242+1440del|||||||rs72040277||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-9187_198-9186del|||||||rs72040277||1||HGNC|HGNC:4700|2||||||||Ensembl||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+1439_242+1440del|||||||rs72040277||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+1439_149+1440del|||||||rs72040277||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+1439_277+1440del|||||||rs72040277||1||HGNC|HGNC:4700|3||||||||Ensembl||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+1439_149+1440del|||||||rs72040277||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+1439_149+1440del|||||||rs72040277||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+1439_149+1440del|||||||rs72040277||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+1439_242+1440del|||||||rs72040277||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-9187_-316-9186del|||||||rs72040277||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+1439_242+1440del|||||||rs72040277||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+1439_149+1440del|||||||rs72040277||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+1439_242+1440del|||||||rs72040277||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+1439_242+1440del|||||||rs72040277||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+1439_242+1440del|||||||rs72040277||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+1439_149+1440del|||||||rs72040277||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+1439_149+1440del|||||||rs72040277||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+1439_242+1440del|||||||rs72040277||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+1439_149+1440del|||||||rs72040277||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+1439_149+1440del|||||||rs72040277||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+1439_149+1440del|||||||rs72040277||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+1439_242+1440del|||||||rs72040277||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+1439_149+1440del|||||||rs72040277||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||AT|AT|||9|chrX:g.2844793_2844794del|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-6|45|-6|-24;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7343;gnomADv4_1_AC_joint_XX=6569;gnomADv4_1_AC_joint_XY=774;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.957866;gnomADv4_1_AF_joint_XX=0.97753;gnomADv4_1_AF_joint_XY=0.818182;gnomADv4_1_AN_grpmax_joint=7;gnomADv4_1_AN_joint=7666;gnomADv4_1_AN_joint_XX=6720;gnomADv4_1_AN_joint_XY=946;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3220;gnomADv4_1_nhomalt_joint_XX=3220;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2844788 chrX_2844788_A_G A G 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=32;CADD_PHREDscore=1.889;CADD_Rawscore=0.148768;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+1434A>G|||||||rs200956462||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-9192A>G|||||||rs200956462||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+1434A>G|||||||rs200956462||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+1434A>G|||||||rs200956462||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+1434A>G|||||||rs200956462||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+1434A>G|||||||rs200956462||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+1434A>G|||||||rs200956462||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+1434A>G|||||||rs200956462||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+1434A>G|||||||rs200956462||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-9192A>G|||||||rs200956462||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+1434A>G|||||||rs200956462||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+1434A>G|||||||rs200956462||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+1434A>G|||||||rs200956462||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+1434A>G|||||||rs200956462||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+1434A>G|||||||rs200956462||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+1434A>G|||||||rs200956462||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+1434A>G|||||||rs200956462||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+1434A>G|||||||rs200956462||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+1434A>G|||||||rs200956462||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+1434A>G|||||||rs200956462||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+1434A>G|||||||rs200956462||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+1434A>G|||||||rs200956462||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2844788A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+1434A>G|||||||rs200956462||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2844788A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-28|-10|-1|-29;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=10;gnomADv4_1_AC_joint_XX=8;gnomADv4_1_AC_joint_XY=2;gnomADv4_1_AF_grpmax_joint=0.000317662;gnomADv4_1_AF_joint=0.000210278;gnomADv4_1_AF_joint_XX=0.000274123;gnomADv4_1_AF_joint_XY=0.000108861;gnomADv4_1_AN_grpmax_joint=25184;gnomADv4_1_AN_joint=47556;gnomADv4_1_AN_joint_XX=29184;gnomADv4_1_AN_joint_XY=18372;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3;gnomADv4_1_nhomalt_joint_XX=3;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2845039 chrX_2845039_A_G A G 30 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=30;CADD_PHREDscore=5.1;CADD_Rawscore=0.465249;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+1685A>G|||||||rs182725099||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-8941A>G|||||||rs182725099||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+1685A>G|||||||rs182725099||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+1685A>G|||||||rs182725099||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+1685A>G|||||||rs182725099||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+1685A>G|||||||rs182725099||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+1685A>G|||||||rs182725099||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+1685A>G|||||||rs182725099||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+1685A>G|||||||rs182725099||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-8941A>G|||||||rs182725099||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+1685A>G|||||||rs182725099||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+1685A>G|||||||rs182725099||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+1685A>G|||||||rs182725099||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+1685A>G|||||||rs182725099||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+1685A>G|||||||rs182725099||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+1685A>G|||||||rs182725099||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+1685A>G|||||||rs182725099||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+1685A>G|||||||rs182725099||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+1685A>G|||||||rs182725099||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+1685A>G|||||||rs182725099||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+1685A>G|||||||rs182725099||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+1685A>G|||||||rs182725099||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2845039A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+1685A>G|||||||rs182725099||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2845039A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-26|2|47|3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73;gnomADv4_1_AC_joint_XX=60;gnomADv4_1_AC_joint_XY=13;gnomADv4_1_AF_grpmax_joint=0.00259605;gnomADv4_1_AF_joint=0.00100751;gnomADv4_1_AF_joint_XX=0.00113917;gnomADv4_1_AF_joint_XY=0.00065703;gnomADv4_1_AN_grpmax_joint=1926;gnomADv4_1_AN_joint=72456;gnomADv4_1_AN_joint_XX=52670;gnomADv4_1_AN_joint_XY=19786;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2845049 chrX_2845049_A_ATATT A ATATT 20 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=1.0;AF_XX=.;AF_XY=1.0;AN=1;AN_XX=0;AN_XY=1;AQ=20;CADDIndel_PHREDscore=1.48;CADDIndel_Rawscore=0.084675;CSQ=TATT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+1698_242+1699insTTAT|||||||rs534866939||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-8928_198-8927insTTAT|||||||rs534866939||1||HGNC|HGNC:4700|2||||||||Ensembl||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+1698_242+1699insTTAT|||||||rs534866939||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+1698_149+1699insTTAT|||||||rs534866939||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+1698_277+1699insTTAT|||||||rs534866939||1||HGNC|HGNC:4700|3||||||||Ensembl||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+1698_149+1699insTTAT|||||||rs534866939||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+1698_149+1699insTTAT|||||||rs534866939||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+1698_149+1699insTTAT|||||||rs534866939||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+1698_242+1699insTTAT|||||||rs534866939||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-8928_-316-8927insTTAT|||||||rs534866939||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+1698_242+1699insTTAT|||||||rs534866939||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+1698_149+1699insTTAT|||||||rs534866939||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+1698_242+1699insTTAT|||||||rs534866939||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+1698_242+1699insTTAT|||||||rs534866939||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+1698_242+1699insTTAT|||||||rs534866939||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+1698_149+1699insTTAT|||||||rs534866939||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+1698_149+1699insTTAT|||||||rs534866939||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+1698_242+1699insTTAT|||||||rs534866939||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+1698_149+1699insTTAT|||||||rs534866939||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+1698_149+1699insTTAT|||||||rs534866939||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+1698_149+1699insTTAT|||||||rs534866939||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+1698_242+1699insTTAT|||||||rs534866939||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||,TATT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+1698_149+1699insTTAT|||||||rs534866939||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||3|chrX:g.2845052_2845053insTTAT|||||||||||||;TYPE=INDEL;VEP_Allele=TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT,TATT;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2;gnomADv4_1_AC_joint_XX=2;gnomADv4_1_AC_joint_XY=0;gnomADv4_1_AF_grpmax_joint=0.000365831;gnomADv4_1_AF_joint=0.000296121;gnomADv4_1_AF_joint_XX=0.000513611;gnomADv4_1_AF_joint_XY=0.0;gnomADv4_1_AN_grpmax_joint=5467;gnomADv4_1_AN_joint=6754;gnomADv4_1_AN_joint_XX=3894;gnomADv4_1_AN_joint_XY=2860;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2845059 chrX_2845059_G_A G A 21 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=21;CADD_PHREDscore=1.304;CADD_Rawscore=0.051402;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+1705G>A|||||||rs146016153||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-8921G>A|||||||rs146016153||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+1705G>A|||||||rs146016153||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+1705G>A|||||||rs146016153||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+1705G>A|||||||rs146016153||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+1705G>A|||||||rs146016153||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+1705G>A|||||||rs146016153||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+1705G>A|||||||rs146016153||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+1705G>A|||||||rs146016153||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-8921G>A|||||||rs146016153||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+1705G>A|||||||rs146016153||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+1705G>A|||||||rs146016153||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+1705G>A|||||||rs146016153||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+1705G>A|||||||rs146016153||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+1705G>A|||||||rs146016153||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+1705G>A|||||||rs146016153||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+1705G>A|||||||rs146016153||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+1705G>A|||||||rs146016153||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+1705G>A|||||||rs146016153||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+1705G>A|||||||rs146016153||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+1705G>A|||||||rs146016153||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+1705G>A|||||||rs146016153||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2845059G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+1705G>A|||||||rs146016153||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2845059G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|2|-22|3|-41;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37244;gnomADv4_1_AC_joint_XX=28816;gnomADv4_1_AC_joint_XY=8428;gnomADv4_1_AF_grpmax_joint=0.827586;gnomADv4_1_AF_joint=0.75489;gnomADv4_1_AF_joint_XX=0.715463;gnomADv4_1_AF_joint_XY=0.93014;gnomADv4_1_AN_grpmax_joint=29;gnomADv4_1_AN_joint=49337;gnomADv4_1_AN_joint_XX=40276;gnomADv4_1_AN_joint_XY=9061;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9348;gnomADv4_1_nhomalt_joint_XX=9348;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2845083 chrX_2845083_G_A G A 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=1;AN_XX=0;AN_XY=1;AQ=11;CADD_PHREDscore=4.611;CADD_Rawscore=0.419946;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+1729G>A|||||||rs148089234||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-8897G>A|||||||rs148089234||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+1729G>A|||||||rs148089234||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+1729G>A|||||||rs148089234||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+1729G>A|||||||rs148089234||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+1729G>A|||||||rs148089234||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+1729G>A|||||||rs148089234||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+1729G>A|||||||rs148089234||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+1729G>A|||||||rs148089234||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-8897G>A|||||||rs148089234||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+1729G>A|||||||rs148089234||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+1729G>A|||||||rs148089234||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+1729G>A|||||||rs148089234||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+1729G>A|||||||rs148089234||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+1729G>A|||||||rs148089234||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+1729G>A|||||||rs148089234||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+1729G>A|||||||rs148089234||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+1729G>A|||||||rs148089234||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+1729G>A|||||||rs148089234||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+1729G>A|||||||rs148089234||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+1729G>A|||||||rs148089234||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+1729G>A|||||||rs148089234||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2845083G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+1729G>A|||||||rs148089234||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2845083G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|2|-46|-21|27;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43895;gnomADv4_1_AC_joint_XX=35434;gnomADv4_1_AC_joint_XY=8461;gnomADv4_1_AF_grpmax_joint=0.913519;gnomADv4_1_AF_joint=0.823268;gnomADv4_1_AF_joint_XX=0.8028;gnomADv4_1_AF_joint_XY=0.921678;gnomADv4_1_AN_grpmax_joint=1006;gnomADv4_1_AN_joint=53318;gnomADv4_1_AN_joint_XX=44138;gnomADv4_1_AN_joint_XY=9180;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=14295;gnomADv4_1_nhomalt_joint_XX=14295;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2845107 chrX_2845107_G_A G A 10 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=10;CADD_PHREDscore=5.279;CADD_Rawscore=0.482267;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+1753G>A|||||||rs141821669||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-8873G>A|||||||rs141821669||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+1753G>A|||||||rs141821669||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+1753G>A|||||||rs141821669||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+1753G>A|||||||rs141821669||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+1753G>A|||||||rs141821669||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+1753G>A|||||||rs141821669||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+1753G>A|||||||rs141821669||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+1753G>A|||||||rs141821669||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-8873G>A|||||||rs141821669||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+1753G>A|||||||rs141821669||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+1753G>A|||||||rs141821669||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+1753G>A|||||||rs141821669||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+1753G>A|||||||rs141821669||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+1753G>A|||||||rs141821669||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+1753G>A|||||||rs141821669||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+1753G>A|||||||rs141821669||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+1753G>A|||||||rs141821669||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+1753G>A|||||||rs141821669||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+1753G>A|||||||rs141821669||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+1753G>A|||||||rs141821669||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+1753G>A|||||||rs141821669||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2845107G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+1753G>A|||||||rs141821669||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2845107G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|22|-2|-25|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35324;gnomADv4_1_AC_joint_XX=29359;gnomADv4_1_AC_joint_XY=5965;gnomADv4_1_AF_grpmax_joint=0.954545;gnomADv4_1_AF_joint=0.843115;gnomADv4_1_AF_joint_XX=0.83057;gnomADv4_1_AF_joint_XY=0.910826;gnomADv4_1_AN_grpmax_joint=22;gnomADv4_1_AN_joint=41897;gnomADv4_1_AN_joint_XX=35348;gnomADv4_1_AN_joint_XY=6549;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=12337;gnomADv4_1_nhomalt_joint_XX=12337;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2845514 chrX_2845514_C_CAT C CAT 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=2;AN_XX=0;AN_XY=2;AQ=11;CSQ=AT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+2160_242+2161insAT|||||||rs202192548||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-8466_198-8465insAT|||||||rs202192548||1||HGNC|HGNC:4700|2||||||||Ensembl|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+2160_242+2161insAT|||||||rs202192548||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+2160_149+2161insAT|||||||rs202192548||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+2160_277+2161insAT|||||||rs202192548||1||HGNC|HGNC:4700|3||||||||Ensembl|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+2160_149+2161insAT|||||||rs202192548||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+2160_149+2161insAT|||||||rs202192548||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+2160_149+2161insAT|||||||rs202192548||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+2160_242+2161insAT|||||||rs202192548||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-8466_-316-8465insAT|||||||rs202192548||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+2160_242+2161insAT|||||||rs202192548||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+2160_149+2161insAT|||||||rs202192548||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+2160_242+2161insAT|||||||rs202192548||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+2160_242+2161insAT|||||||rs202192548||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+2160_242+2161insAT|||||||rs202192548||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+2160_149+2161insAT|||||||rs202192548||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+2160_149+2161insAT|||||||rs202192548||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+2160_242+2161insAT|||||||rs202192548||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+2160_149+2161insAT|||||||rs202192548||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+2160_149+2161insAT|||||||rs202192548||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+2160_149+2161insAT|||||||rs202192548||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+2160_242+2161insAT|||||||rs202192548||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq|||||||chrX:g.2845514_2845515insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+2160_149+2161insAT|||||||rs202192548||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq|||||||chrX:g.2845514_2845515insAT|||||||||||||;TYPE=INDEL;VEP_Allele=AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2845538 chrX_2845538_C_CAT C CAT 14 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=14;CSQ=AT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+2184_242+2185insAT|||||||rs201700878||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-8442_198-8441insAT|||||||rs201700878||1||HGNC|HGNC:4700|2||||||||Ensembl|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+2184_242+2185insAT|||||||rs201700878||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+2184_149+2185insAT|||||||rs201700878||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+2184_277+2185insAT|||||||rs201700878||1||HGNC|HGNC:4700|3||||||||Ensembl|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+2184_149+2185insAT|||||||rs201700878||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+2184_149+2185insAT|||||||rs201700878||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+2184_149+2185insAT|||||||rs201700878||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+2184_242+2185insAT|||||||rs201700878||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-8442_-316-8441insAT|||||||rs201700878||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+2184_242+2185insAT|||||||rs201700878||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+2184_149+2185insAT|||||||rs201700878||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+2184_242+2185insAT|||||||rs201700878||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+2184_242+2185insAT|||||||rs201700878||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+2184_242+2185insAT|||||||rs201700878||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+2184_149+2185insAT|||||||rs201700878||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+2184_149+2185insAT|||||||rs201700878||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+2184_242+2185insAT|||||||rs201700878||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+2184_149+2185insAT|||||||rs201700878||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+2184_149+2185insAT|||||||rs201700878||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+2184_149+2185insAT|||||||rs201700878||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+2184_242+2185insAT|||||||rs201700878||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq|||||||chrX:g.2845538_2845539insAT|||||||||||||,AT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+2184_149+2185insAT|||||||rs201700878||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq|||||||chrX:g.2845538_2845539insAT|||||||||||||;TYPE=INDEL;VEP_Allele=AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT,AT;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2845549 chrX_2845549_ATATT_A ATATT A 28 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.333333;AF_XX=0.0;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=28;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+2199_242+2202del|||||||rs199564012||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-8427_198-8424del|||||||rs199564012||1||HGNC|HGNC:4700|2||||||||Ensembl||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+2199_242+2202del|||||||rs199564012||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+2199_149+2202del|||||||rs199564012||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+2199_277+2202del|||||||rs199564012||1||HGNC|HGNC:4700|3||||||||Ensembl||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+2199_149+2202del|||||||rs199564012||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+2199_149+2202del|||||||rs199564012||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+2199_149+2202del|||||||rs199564012||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+2199_242+2202del|||||||rs199564012||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-8427_-316-8424del|||||||rs199564012||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+2199_242+2202del|||||||rs199564012||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+2199_149+2202del|||||||rs199564012||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+2199_242+2202del|||||||rs199564012||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+2199_242+2202del|||||||rs199564012||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+2199_242+2202del|||||||rs199564012||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+2199_149+2202del|||||||rs199564012||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+2199_149+2202del|||||||rs199564012||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+2199_242+2202del|||||||rs199564012||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+2199_149+2202del|||||||rs199564012||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+2199_149+2202del|||||||rs199564012||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+2199_149+2202del|||||||rs199564012||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+2199_242+2202del|||||||rs199564012||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+2199_149+2202del|||||||rs199564012||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||TATT|TATT|||3|chrX:g.2845553_2845556del|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|38|14|-31|45;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2845567 chrX_2845567_G_A G A 36 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=36;CADD_PHREDscore=0.145;CADD_Rawscore=-0.510961;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+2213G>A|||||||rs5939355||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-8413G>A|||||||rs5939355||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+2213G>A|||||||rs5939355||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+2213G>A|||||||rs5939355||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+2213G>A|||||||rs5939355||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+2213G>A|||||||rs5939355||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+2213G>A|||||||rs5939355||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+2213G>A|||||||rs5939355||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+2213G>A|||||||rs5939355||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-8413G>A|||||||rs5939355||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+2213G>A|||||||rs5939355||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+2213G>A|||||||rs5939355||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+2213G>A|||||||rs5939355||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+2213G>A|||||||rs5939355||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+2213G>A|||||||rs5939355||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+2213G>A|||||||rs5939355||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+2213G>A|||||||rs5939355||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+2213G>A|||||||rs5939355||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+2213G>A|||||||rs5939355||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+2213G>A|||||||rs5939355||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+2213G>A|||||||rs5939355||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+2213G>A|||||||rs5939355||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2845567G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+2213G>A|||||||rs5939355||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2845567G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|24|-4|27|-49;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4422;gnomADv4_1_AC_joint_XX=3578;gnomADv4_1_AC_joint_XY=844;gnomADv4_1_AF_grpmax_joint=0.898757;gnomADv4_1_AF_joint=0.866719;gnomADv4_1_AF_joint_XX=0.942075;gnomADv4_1_AF_joint_XY=0.647239;gnomADv4_1_AN_grpmax_joint=3941;gnomADv4_1_AN_joint=5102;gnomADv4_1_AN_joint_XX=3798;gnomADv4_1_AN_joint_XY=1304;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1764;gnomADv4_1_nhomalt_joint_XX=1764;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2845581 chrX_2845581_A_ATATATACACGTG A ATATATACACGTG 22 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=22;CSQ=TATATACACGTG|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+2236_242+2237insGTGTATATACAC|||||||rs1417223914||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-8390_198-8389insGTGTATATACAC|||||||rs1417223914||1||HGNC|HGNC:4700|2||||||||Ensembl||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+2236_242+2237insGTGTATATACAC|||||||rs1417223914||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+2236_149+2237insGTGTATATACAC|||||||rs1417223914||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+2236_277+2237insGTGTATATACAC|||||||rs1417223914||1||HGNC|HGNC:4700|3||||||||Ensembl||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+2236_149+2237insGTGTATATACAC|||||||rs1417223914||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+2236_149+2237insGTGTATATACAC|||||||rs1417223914||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+2236_149+2237insGTGTATATACAC|||||||rs1417223914||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+2236_242+2237insGTGTATATACAC|||||||rs1417223914||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-8390_-316-8389insGTGTATATACAC|||||||rs1417223914||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+2236_242+2237insGTGTATATACAC|||||||rs1417223914||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+2236_149+2237insGTGTATATACAC|||||||rs1417223914||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+2236_242+2237insGTGTATATACAC|||||||rs1417223914||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+2236_242+2237insGTGTATATACAC|||||||rs1417223914||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+2236_242+2237insGTGTATATACAC|||||||rs1417223914||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+2236_149+2237insGTGTATATACAC|||||||rs1417223914||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+2236_149+2237insGTGTATATACAC|||||||rs1417223914||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+2236_242+2237insGTGTATATACAC|||||||rs1417223914||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+2236_149+2237insGTGTATATACAC|||||||rs1417223914||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+2236_149+2237insGTGTATATACAC|||||||rs1417223914||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+2236_149+2237insGTGTATATACAC|||||||rs1417223914||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+2236_242+2237insGTGTATATACAC|||||||rs1417223914||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||,TATATACACGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+2236_149+2237insGTGTATATACAC|||||||rs1417223914||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||9|chrX:g.2845590_2845591insGTGTATATACAC|||||||||||||;TYPE=INDEL;VEP_Allele=TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG,TATATACACGTG;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=.;gnomADv4_1_AC_joint_XX=.;gnomADv4_1_AC_joint_XY=.;gnomADv4_1_AF_joint=.;gnomADv4_1_AF_joint_XX=.;gnomADv4_1_AF_joint_XY=.;gnomADv4_1_AN_joint=101187;gnomADv4_1_AN_joint_XX=73214;gnomADv4_1_AN_joint_XY=27973;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_nhomalt_joint=.;gnomADv4_1_nhomalt_joint_XX=.;gnomADv4_1_nhomalt_joint_XY=.;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2845597 chrX_2845597_A_G A G 42 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADD_PHREDscore=2.486;CADD_Rawscore=0.222206;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+2243A>G|||||||rs10156910||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-8383A>G|||||||rs10156910||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+2243A>G|||||||rs10156910||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+2243A>G|||||||rs10156910||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+2243A>G|||||||rs10156910||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+2243A>G|||||||rs10156910||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+2243A>G|||||||rs10156910||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+2243A>G|||||||rs10156910||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+2243A>G|||||||rs10156910||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-8383A>G|||||||rs10156910||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+2243A>G|||||||rs10156910||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+2243A>G|||||||rs10156910||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+2243A>G|||||||rs10156910||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+2243A>G|||||||rs10156910||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+2243A>G|||||||rs10156910||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+2243A>G|||||||rs10156910||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+2243A>G|||||||rs10156910||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+2243A>G|||||||rs10156910||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+2243A>G|||||||rs10156910||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+2243A>G|||||||rs10156910||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+2243A>G|||||||rs10156910||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+2243A>G|||||||rs10156910||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2845597A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+2243A>G|||||||rs10156910||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2845597A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|48|40|47|-3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2140;gnomADv4_1_AC_joint_XX=1575;gnomADv4_1_AC_joint_XY=565;gnomADv4_1_AF_grpmax_joint=0.119671;gnomADv4_1_AF_joint=0.0381387;gnomADv4_1_AF_joint_XX=0.0436361;gnomADv4_1_AF_joint_XY=0.028226;gnomADv4_1_AN_grpmax_joint=1337;gnomADv4_1_AN_joint=56111;gnomADv4_1_AN_joint_XX=36094;gnomADv4_1_AN_joint_XY=20017;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=346;gnomADv4_1_nhomalt_joint_XX=346;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2845643 chrX_2845643_A_G A G 36 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=36;CADD_PHREDscore=3.664;CADD_Rawscore=0.335378;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+2289A>G|||||||rs5939356||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-8337A>G|||||||rs5939356||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+2289A>G|||||||rs5939356||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+2289A>G|||||||rs5939356||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+2289A>G|||||||rs5939356||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+2289A>G|||||||rs5939356||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+2289A>G|||||||rs5939356||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+2289A>G|||||||rs5939356||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+2289A>G|||||||rs5939356||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-8337A>G|||||||rs5939356||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+2289A>G|||||||rs5939356||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+2289A>G|||||||rs5939356||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+2289A>G|||||||rs5939356||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+2289A>G|||||||rs5939356||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+2289A>G|||||||rs5939356||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+2289A>G|||||||rs5939356||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+2289A>G|||||||rs5939356||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+2289A>G|||||||rs5939356||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+2289A>G|||||||rs5939356||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+2289A>G|||||||rs5939356||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+2289A>G|||||||rs5939356||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+2289A>G|||||||rs5939356||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2845643A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+2289A>G|||||||rs5939356||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2845643A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-2|0|-49|7;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5897;gnomADv4_1_AC_joint_XX=4297;gnomADv4_1_AC_joint_XY=1600;gnomADv4_1_AF_grpmax_joint=0.238193;gnomADv4_1_AF_joint=0.137838;gnomADv4_1_AF_joint_XX=0.156905;gnomADv4_1_AF_joint_XY=0.103923;gnomADv4_1_AN_grpmax_joint=13170;gnomADv4_1_AN_joint=42782;gnomADv4_1_AN_joint_XX=27386;gnomADv4_1_AN_joint_XY=15396;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=999;gnomADv4_1_nhomalt_joint_XX=999;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2845995 chrX_2845995_G_GTA G GTA 33 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=33;CADDIndel_PHREDscore=0.362;CADDIndel_Rawscore=-0.274408;CSQ=TA|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+2650_242+2651dup|||||||rs201335553||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-7976_198-7975dup|||||||rs201335553||1||HGNC|HGNC:4700|2||||||||Ensembl||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+2650_242+2651dup|||||||rs201335553||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+2650_149+2651dup|||||||rs201335553||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+2650_277+2651dup|||||||rs201335553||1||HGNC|HGNC:4700|3||||||||Ensembl||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+2650_149+2651dup|||||||rs201335553||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+2650_149+2651dup|||||||rs201335553||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+2650_149+2651dup|||||||rs201335553||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+2650_242+2651dup|||||||rs201335553||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-7976_-316-7975dup|||||||rs201335553||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+2650_242+2651dup|||||||rs201335553||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+2650_149+2651dup|||||||rs201335553||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+2650_242+2651dup|||||||rs201335553||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+2650_242+2651dup|||||||rs201335553||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+2650_242+2651dup|||||||rs201335553||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+2650_149+2651dup|||||||rs201335553||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+2650_149+2651dup|||||||rs201335553||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+2650_242+2651dup|||||||rs201335553||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+2650_149+2651dup|||||||rs201335553||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+2650_149+2651dup|||||||rs201335553||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+2650_149+2651dup|||||||rs201335553||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+2650_242+2651dup|||||||rs201335553||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||10|chrX:g.2846004_2846005dup|||||||||||||,TA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+2650_149+2651dup|||||||rs201335553||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||10|chrX:g.2846004_2846005dup|||||||||||||;TYPE=INDEL;VEP_Allele=TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA,TA;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16629;gnomADv4_1_AC_joint_XX=13570;gnomADv4_1_AC_joint_XY=3059;gnomADv4_1_AF_grpmax_joint=0.32131;gnomADv4_1_AF_joint=0.241402;gnomADv4_1_AF_joint_XX=0.237205;gnomADv4_1_AF_joint_XY=0.261968;gnomADv4_1_AN_grpmax_joint=17522;gnomADv4_1_AN_joint=68885;gnomADv4_1_AN_joint_XX=57208;gnomADv4_1_AN_joint_XY=11677;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1595;gnomADv4_1_nhomalt_joint_XX=1595;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2846055 chrX_2846055_ATTTTTTTTTTTTTTTT_A ATTTTTTTTTTTTTTTT A 38 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=38;CADDIndel_PHREDscore=0.481;CADDIndel_Rawscore=-0.202807;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+2715_242+2730del|||||||rs374480210||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-7911_198-7896del|||||||rs374480210||1||HGNC|HGNC:4700|2||||||||Ensembl||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+2715_242+2730del|||||||rs374480210||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+2715_149+2730del|||||||rs374480210||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+2715_277+2730del|||||||rs374480210||1||HGNC|HGNC:4700|3||||||||Ensembl||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+2715_149+2730del|||||||rs374480210||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+2715_149+2730del|||||||rs374480210||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+2715_149+2730del|||||||rs374480210||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+2715_242+2730del|||||||rs374480210||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-7911_-316-7896del|||||||rs374480210||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+2715_242+2730del|||||||rs374480210||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+2715_149+2730del|||||||rs374480210||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+2715_242+2730del|||||||rs374480210||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+2715_242+2730del|||||||rs374480210||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+2715_242+2730del|||||||rs374480210||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+2715_149+2730del|||||||rs374480210||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+2715_149+2730del|||||||rs374480210||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+2715_242+2730del|||||||rs374480210||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+2715_149+2730del|||||||rs374480210||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+2715_149+2730del|||||||rs374480210||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+2715_149+2730del|||||||rs374480210||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+2715_242+2730del|||||||rs374480210||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+2715_149+2730del|||||||rs374480210||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||TTTTTTTTTTTTTTTT|TTTTTTTTTTTTTTTT|||13|chrX:g.2846069_2846084del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8941;gnomADv4_1_AC_joint_XX=8141;gnomADv4_1_AC_joint_XY=800;gnomADv4_1_AF_grpmax_joint=0.368322;gnomADv4_1_AF_joint=0.233118;gnomADv4_1_AF_joint_XX=0.231977;gnomADv4_1_AF_joint_XY=0.245399;gnomADv4_1_AN_grpmax_joint=1067;gnomADv4_1_AN_joint=38354;gnomADv4_1_AN_joint_XX=35094;gnomADv4_1_AN_joint_XY=3260;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=566;gnomADv4_1_nhomalt_joint_XX=566;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2846128 chrX_2846128_G_A G A 49 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=0.145;CADD_Rawscore=-0.511729;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+2774G>A|||||||rs5982887||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-7852G>A|||||||rs5982887||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+2774G>A|||||||rs5982887||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+2774G>A|||||||rs5982887||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+2774G>A|||||||rs5982887||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+2774G>A|||||||rs5982887||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+2774G>A|||||||rs5982887||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+2774G>A|||||||rs5982887||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+2774G>A|||||||rs5982887||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-7852G>A|||||||rs5982887||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+2774G>A|||||||rs5982887||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+2774G>A|||||||rs5982887||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+2774G>A|||||||rs5982887||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+2774G>A|||||||rs5982887||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+2774G>A|||||||rs5982887||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+2774G>A|||||||rs5982887||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+2774G>A|||||||rs5982887||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+2774G>A|||||||rs5982887||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+2774G>A|||||||rs5982887||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+2774G>A|||||||rs5982887||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+2774G>A|||||||rs5982887||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+2774G>A|||||||rs5982887||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2846128G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+2774G>A|||||||rs5982887||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2846128G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-15|-36|-3|13;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15329;gnomADv4_1_AC_joint_XX=12127;gnomADv4_1_AC_joint_XY=3202;gnomADv4_1_AF_grpmax_joint=0.289;gnomADv4_1_AF_joint=0.182647;gnomADv4_1_AF_joint_XX=0.176454;gnomADv4_1_AF_joint_XY=0.210644;gnomADv4_1_AN_grpmax_joint=2609;gnomADv4_1_AN_joint=83927;gnomADv4_1_AN_joint_XX=68726;gnomADv4_1_AN_joint_XY=15201;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1084;gnomADv4_1_nhomalt_joint_XX=1084;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2846330 chrX_2846330_G_C G C 52 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=1.795;CADD_Rawscore=0.135323;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+2976G>C|||||||rs185843838||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-7650G>C|||||||rs185843838||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+2976G>C|||||||rs185843838||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+2976G>C|||||||rs185843838||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+2976G>C|||||||rs185843838||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+2976G>C|||||||rs185843838||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+2976G>C|||||||rs185843838||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+2976G>C|||||||rs185843838||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+2976G>C|||||||rs185843838||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-7650G>C|||||||rs185843838||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+2976G>C|||||||rs185843838||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+2976G>C|||||||rs185843838||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+2976G>C|||||||rs185843838||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+2976G>C|||||||rs185843838||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+2976G>C|||||||rs185843838||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+2976G>C|||||||rs185843838||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+2976G>C|||||||rs185843838||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+2976G>C|||||||rs185843838||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+2976G>C|||||||rs185843838||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+2976G>C|||||||rs185843838||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+2976G>C|||||||rs185843838||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+2976G>C|||||||rs185843838||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2846330G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+2976G>C|||||||rs185843838||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2846330G>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|22|1|22|-1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1277;gnomADv4_1_AC_joint_XX=948;gnomADv4_1_AC_joint_XY=329;gnomADv4_1_AF_grpmax_joint=0.0161043;gnomADv4_1_AF_joint=0.0118843;gnomADv4_1_AF_joint_XX=0.0122398;gnomADv4_1_AF_joint_XY=0.0109663;gnomADv4_1_AN_grpmax_joint=52222;gnomADv4_1_AN_joint=107453;gnomADv4_1_AN_joint_XX=77452;gnomADv4_1_AN_joint_XY=30001;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11;gnomADv4_1_nhomalt_joint_XX=11;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2846635 chrX_2846635_G_C G C 52 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=1.191;CADD_Rawscore=0.027661;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+3281G>C|||||||rs7890298||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-7345G>C|||||||rs7890298||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+3281G>C|||||||rs7890298||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+3281G>C|||||||rs7890298||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+3281G>C|||||||rs7890298||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+3281G>C|||||||rs7890298||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+3281G>C|||||||rs7890298||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+3281G>C|||||||rs7890298||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+3281G>C|||||||rs7890298||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-7345G>C|||||||rs7890298||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+3281G>C|||||||rs7890298||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+3281G>C|||||||rs7890298||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+3281G>C|||||||rs7890298||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+3281G>C|||||||rs7890298||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+3281G>C|||||||rs7890298||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+3281G>C|||||||rs7890298||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+3281G>C|||||||rs7890298||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+3281G>C|||||||rs7890298||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+3281G>C|||||||rs7890298||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+3281G>C|||||||rs7890298||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+3281G>C|||||||rs7890298||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+3281G>C|||||||rs7890298||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2846635G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+3281G>C|||||||rs7890298||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2846635G>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-41|-32|38|-32;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40476;gnomADv4_1_AC_joint_XX=29243;gnomADv4_1_AC_joint_XY=11233;gnomADv4_1_AF_grpmax_joint=0.458811;gnomADv4_1_AF_joint=0.370154;gnomADv4_1_AF_joint_XX=0.376668;gnomADv4_1_AF_joint_XY=0.354208;gnomADv4_1_AN_grpmax_joint=30008;gnomADv4_1_AN_joint=109349;gnomADv4_1_AN_joint_XX=77636;gnomADv4_1_AN_joint_XY=31713;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5715;gnomADv4_1_nhomalt_joint_XX=5715;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2846847 chrX_2846847_A_G A G 54 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.674;CADD_Rawscore=-0.118465;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+3493A>G|||||||rs5982888||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-7133A>G|||||||rs5982888||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+3493A>G|||||||rs5982888||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+3493A>G|||||||rs5982888||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+3493A>G|||||||rs5982888||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+3493A>G|||||||rs5982888||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+3493A>G|||||||rs5982888||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+3493A>G|||||||rs5982888||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+3493A>G|||||||rs5982888||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-7133A>G|||||||rs5982888||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+3493A>G|||||||rs5982888||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+3493A>G|||||||rs5982888||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+3493A>G|||||||rs5982888||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+3493A>G|||||||rs5982888||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+3493A>G|||||||rs5982888||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+3493A>G|||||||rs5982888||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+3493A>G|||||||rs5982888||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+3493A>G|||||||rs5982888||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+3493A>G|||||||rs5982888||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+3493A>G|||||||rs5982888||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+3493A>G|||||||rs5982888||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+3493A>G|||||||rs5982888||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2846847A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+3493A>G|||||||rs5982888||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2846847A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-31|25|-50|1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41024;gnomADv4_1_AC_joint_XX=29064;gnomADv4_1_AC_joint_XY=11960;gnomADv4_1_AF_grpmax_joint=0.449502;gnomADv4_1_AF_joint=0.368259;gnomADv4_1_AF_joint_XX=0.373794;gnomADv4_1_AF_joint_XY=0.355466;gnomADv4_1_AN_grpmax_joint=30734;gnomADv4_1_AN_joint=111400;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=33646;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5625;gnomADv4_1_nhomalt_joint_XX=5625;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2847278 chrX_2847278_A_C A C 56 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=1.135;CADD_Rawscore=0.015152;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+3924A>C|||||||rs5982593||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-6702A>C|||||||rs5982593||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+3924A>C|||||||rs5982593||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+3924A>C|||||||rs5982593||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+3924A>C|||||||rs5982593||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+3924A>C|||||||rs5982593||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+3924A>C|||||||rs5982593||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+3924A>C|||||||rs5982593||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+3924A>C|||||||rs5982593||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-6702A>C|||||||rs5982593||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+3924A>C|||||||rs5982593||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+3924A>C|||||||rs5982593||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+3924A>C|||||||rs5982593||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+3924A>C|||||||rs5982593||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+3924A>C|||||||rs5982593||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+3924A>C|||||||rs5982593||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+3924A>C|||||||rs5982593||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+3924A>C|||||||rs5982593||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+3924A>C|||||||rs5982593||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+3924A>C|||||||rs5982593||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+3924A>C|||||||rs5982593||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+3924A>C|||||||rs5982593||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2847278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+3924A>C|||||||rs5982593||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2847278A>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|6|-23|42|18;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41506;gnomADv4_1_AC_joint_XX=29695;gnomADv4_1_AC_joint_XY=11811;gnomADv4_1_AF_grpmax_joint=0.475718;gnomADv4_1_AF_joint=0.375838;gnomADv4_1_AF_joint_XX=0.382047;gnomADv4_1_AF_joint_XY=0.361082;gnomADv4_1_AN_grpmax_joint=30331;gnomADv4_1_AN_joint=110436;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=32710;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5897;gnomADv4_1_nhomalt_joint_XX=5897;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2847329 chrX_2847329_A_T A T 55 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=1.182;CADD_Rawscore=0.025588;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+3975A>T|||||||rs5982594||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-6651A>T|||||||rs5982594||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+3975A>T|||||||rs5982594||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+3975A>T|||||||rs5982594||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+3975A>T|||||||rs5982594||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+3975A>T|||||||rs5982594||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+3975A>T|||||||rs5982594||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+3975A>T|||||||rs5982594||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+3975A>T|||||||rs5982594||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-6651A>T|||||||rs5982594||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+3975A>T|||||||rs5982594||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+3975A>T|||||||rs5982594||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+3975A>T|||||||rs5982594||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+3975A>T|||||||rs5982594||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+3975A>T|||||||rs5982594||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+3975A>T|||||||rs5982594||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+3975A>T|||||||rs5982594||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+3975A>T|||||||rs5982594||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+3975A>T|||||||rs5982594||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+3975A>T|||||||rs5982594||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+3975A>T|||||||rs5982594||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+3975A>T|||||||rs5982594||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2847329A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+3975A>T|||||||rs5982594||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2847329A>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|17|4|-33|-37;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40979;gnomADv4_1_AC_joint_XX=29638;gnomADv4_1_AC_joint_XY=11341;gnomADv4_1_AF_grpmax_joint=0.475519;gnomADv4_1_AF_joint=0.375132;gnomADv4_1_AF_joint_XX=0.381844;gnomADv4_1_AF_joint_XY=0.358654;gnomADv4_1_AN_grpmax_joint=29921;gnomADv4_1_AN_joint=109239;gnomADv4_1_AN_joint_XX=77618;gnomADv4_1_AN_joint_XY=31621;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5883;gnomADv4_1_nhomalt_joint_XX=5883;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2847533 chrX_2847533_C_CA;chrX_2847533_CA_C C CA 23 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=1.0;AF_XX=.;AF_XY=1.0;AN=1;AN_XX=0;AN_XY=1;AQ=23;CADDIndel_PHREDscore=0.532;CADDIndel_Rawscore=-0.177826;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+4200dup|||||||rs34368863||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-6426dup|||||||rs34368863||1||HGNC|HGNC:4700|2||||||||Ensembl||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+4200dup|||||||rs34368863||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+4200dup|||||||rs34368863||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+4200dup|||||||rs34368863||1||HGNC|HGNC:4700|3||||||||Ensembl||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+4200dup|||||||rs34368863||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+4200dup|||||||rs34368863||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+4200dup|||||||rs34368863||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+4200dup|||||||rs34368863||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-6426dup|||||||rs34368863||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+4200dup|||||||rs34368863||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+4200dup|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+4200dup|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+4200dup|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+4200dup|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+4200dup|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+4200dup|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+4200dup|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+4200dup|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+4200dup|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+4200dup|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+4200dup|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||21|chrX:g.2847554dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+4200dup|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||21|chrX:g.2847554dup|||||||||||||;SpliceAI=CA|GYG2|0.00|0.00|0.00|0.00|26|7|4|-4;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13472;gnomADv4_1_AC_joint_XX=12543;gnomADv4_1_AC_joint_XY=929;gnomADv4_1_AF_grpmax_joint=0.302083;gnomADv4_1_AF_joint=0.240053;gnomADv4_1_AF_joint_XX=0.241314;gnomADv4_1_AF_joint_XY=0.224234;gnomADv4_1_AN_grpmax_joint=96;gnomADv4_1_AN_joint=56121;gnomADv4_1_AN_joint_XX=51978;gnomADv4_1_AN_joint_XY=4143;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1455;gnomADv4_1_nhomalt_joint_XX=1455;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2847533 chrX_2847533_C_CA;chrX_2847533_CA_C CA C 23 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=1;AN_XX=0;AN_XY=1;AQ=13;CADDIndel_PHREDscore=0.187;CADDIndel_Rawscore=-0.444048;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+4200del|||||||rs34368863||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-6426del|||||||rs34368863||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+4200del|||||||rs34368863||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+4200del|||||||rs34368863||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+4200del|||||||rs34368863||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+4200del|||||||rs34368863||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+4200del|||||||rs34368863||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+4200del|||||||rs34368863||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+4200del|||||||rs34368863||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-6426del|||||||rs34368863||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+4200del|||||||rs34368863||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+4200del|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+4200del|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+4200del|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+4200del|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+4200del|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+4200del|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+4200del|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+4200del|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+4200del|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+4200del|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+4200del|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A|||20|chrX:g.2847554del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+4200del|||||||rs34368863||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A|||20|chrX:g.2847554del|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|26|7|-4|-26;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26949;gnomADv4_1_AC_joint_XX=25088;gnomADv4_1_AC_joint_XY=1861;gnomADv4_1_AF_grpmax_joint=0.573434;gnomADv4_1_AF_joint=0.481929;gnomADv4_1_AF_joint_XX=0.483298;gnomADv4_1_AF_joint_XY=0.464206;gnomADv4_1_AN_grpmax_joint=31198;gnomADv4_1_AN_joint=55919;gnomADv4_1_AN_joint_XX=51910;gnomADv4_1_AN_joint_XY=4009;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5817;gnomADv4_1_nhomalt_joint_XX=5817;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2847703 chrX_2847703_A_AAAAT A AAAAT 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=32;CADDIndel_PHREDscore=0.73;CADDIndel_Rawscore=-0.098239;CSQ=AAAT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+4393_242+4396dup|||||||rs34250808||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-6233_198-6230dup|||||||rs34250808||1||HGNC|HGNC:4700|2||||||||Ensembl||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+4393_242+4396dup|||||||rs34250808||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+4393_149+4396dup|||||||rs34250808||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+4393_277+4396dup|||||||rs34250808||1||HGNC|HGNC:4700|3||||||||Ensembl||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+4393_149+4396dup|||||||rs34250808||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+4393_149+4396dup|||||||rs34250808||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+4393_149+4396dup|||||||rs34250808||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+4393_242+4396dup|||||||rs34250808||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-6233_-316-6230dup|||||||rs34250808||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+4393_242+4396dup|||||||rs34250808||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+4393_149+4396dup|||||||rs34250808||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+4393_242+4396dup|||||||rs34250808||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+4393_242+4396dup|||||||rs34250808||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+4393_242+4396dup|||||||rs34250808||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+4393_149+4396dup|||||||rs34250808||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+4393_149+4396dup|||||||rs34250808||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+4393_242+4396dup|||||||rs34250808||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+4393_149+4396dup|||||||rs34250808||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+4393_149+4396dup|||||||rs34250808||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+4393_149+4396dup|||||||rs34250808||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+4393_242+4396dup|||||||rs34250808||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||47|chrX:g.2847747_2847750dup|||||||||||||,AAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+4393_149+4396dup|||||||rs34250808||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||47|chrX:g.2847747_2847750dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT,AAAT;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35216;gnomADv4_1_AC_joint_XX=29473;gnomADv4_1_AC_joint_XY=5743;gnomADv4_1_AF_grpmax_joint=0.589827;gnomADv4_1_AF_joint=0.437536;gnomADv4_1_AF_joint_XX=0.461901;gnomADv4_1_AF_joint_XY=0.344325;gnomADv4_1_AN_grpmax_joint=40478;gnomADv4_1_AN_joint=80487;gnomADv4_1_AN_joint_XX=63808;gnomADv4_1_AN_joint_XY=16679;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=6897;gnomADv4_1_nhomalt_joint_XX=6897;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2847715 chrX_2847715_TAA_T TAA T 42 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADDIndel_PHREDscore=0.505;CADDIndel_Rawscore=-0.190685;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+4363_242+4364del|||||||rs367758512||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-6263_198-6262del|||||||rs367758512||1||HGNC|HGNC:4700|2||||||||Ensembl||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+4363_242+4364del|||||||rs367758512||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+4363_149+4364del|||||||rs367758512||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+4363_277+4364del|||||||rs367758512||1||HGNC|HGNC:4700|3||||||||Ensembl||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+4363_149+4364del|||||||rs367758512||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+4363_149+4364del|||||||rs367758512||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+4363_149+4364del|||||||rs367758512||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+4363_242+4364del|||||||rs367758512||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-6263_-316-6262del|||||||rs367758512||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+4363_242+4364del|||||||rs367758512||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+4363_149+4364del|||||||rs367758512||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+4363_242+4364del|||||||rs367758512||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+4363_242+4364del|||||||rs367758512||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+4363_242+4364del|||||||rs367758512||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+4363_149+4364del|||||||rs367758512||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+4363_149+4364del|||||||rs367758512||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+4363_242+4364del|||||||rs367758512||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+4363_149+4364del|||||||rs367758512||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+4363_149+4364del|||||||rs367758512||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+4363_149+4364del|||||||rs367758512||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+4363_242+4364del|||||||rs367758512||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+4363_149+4364del|||||||rs367758512||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||AA|AA|||1|chrX:g.2847717_2847718del|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|47|1|-34|2;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17305;gnomADv4_1_AC_joint_XX=12771;gnomADv4_1_AC_joint_XY=4534;gnomADv4_1_AF_grpmax_joint=0.256533;gnomADv4_1_AF_joint=0.187097;gnomADv4_1_AF_joint_XX=0.191257;gnomADv4_1_AF_joint_XY=0.176297;gnomADv4_1_AN_grpmax_joint=3329;gnomADv4_1_AN_joint=92492;gnomADv4_1_AN_joint_XX=66774;gnomADv4_1_AN_joint_XY=25718;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1106;gnomADv4_1_nhomalt_joint_XX=1106;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2847719 chrX_2847719_TAAATAA_T TAAATAA T 40 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=40;CADDIndel_PHREDscore=0.739;CADDIndel_Rawscore=-0.095397;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+4367_242+4372del|||||||rs371200140||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-6259_198-6254del|||||||rs371200140||1||HGNC|HGNC:4700|2||||||||Ensembl||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+4367_242+4372del|||||||rs371200140||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+4367_149+4372del|||||||rs371200140||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+4367_277+4372del|||||||rs371200140||1||HGNC|HGNC:4700|3||||||||Ensembl||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+4367_149+4372del|||||||rs371200140||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+4367_149+4372del|||||||rs371200140||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+4367_149+4372del|||||||rs371200140||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+4367_242+4372del|||||||rs371200140||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-6259_-316-6254del|||||||rs371200140||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+4367_242+4372del|||||||rs371200140||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+4367_149+4372del|||||||rs371200140||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+4367_242+4372del|||||||rs371200140||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+4367_242+4372del|||||||rs371200140||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+4367_242+4372del|||||||rs371200140||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+4367_149+4372del|||||||rs371200140||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+4367_149+4372del|||||||rs371200140||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+4367_242+4372del|||||||rs371200140||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+4367_149+4372del|||||||rs371200140||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+4367_149+4372del|||||||rs371200140||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+4367_149+4372del|||||||rs371200140||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+4367_242+4372del|||||||rs371200140||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+4367_149+4372del|||||||rs371200140||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||AAATAA|AAATAA|||1|chrX:g.2847721_2847726del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17276;gnomADv4_1_AC_joint_XX=12711;gnomADv4_1_AC_joint_XY=4565;gnomADv4_1_AF_grpmax_joint=0.255129;gnomADv4_1_AF_joint=0.171962;gnomADv4_1_AF_joint_XX=0.174986;gnomADv4_1_AF_joint_XY=0.164067;gnomADv4_1_AN_grpmax_joint=3363;gnomADv4_1_AN_joint=100464;gnomADv4_1_AN_joint_XX=72640;gnomADv4_1_AN_joint_XY=27824;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1097;gnomADv4_1_nhomalt_joint_XX=1097;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2848312 chrX_2848312_A_G A G 51 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=2.408;CADD_Rawscore=0.213498;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+4958A>G|||||||rs5982889||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-5668A>G|||||||rs5982889||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+4958A>G|||||||rs5982889||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+4958A>G|||||||rs5982889||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2848312A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5982889|4428|-1||HGNC|HGNC:40270|5||||||||Ensembl||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+4958A>G|||||||rs5982889||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+4958A>G|||||||rs5982889||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+4958A>G|||||||rs5982889||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+4958A>G|||||||rs5982889||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+4958A>G|||||||rs5982889||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-5668A>G|||||||rs5982889||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+4958A>G|||||||rs5982889||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+4958A>G|||||||rs5982889||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+4958A>G|||||||rs5982889||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+4958A>G|||||||rs5982889||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+4958A>G|||||||rs5982889||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+4958A>G|||||||rs5982889||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+4958A>G|||||||rs5982889||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+4958A>G|||||||rs5982889||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+4958A>G|||||||rs5982889||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+4958A>G|||||||rs5982889||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+4958A>G|||||||rs5982889||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+4958A>G|||||||rs5982889||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2848312A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+4958A>G|||||||rs5982889||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2848312A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|14|-21|-5|13;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84308;gnomADv4_1_AC_joint_XX=59841;gnomADv4_1_AC_joint_XY=24467;gnomADv4_1_AF_grpmax_joint=0.832868;gnomADv4_1_AF_joint=0.77014;gnomADv4_1_AF_joint_XX=0.770174;gnomADv4_1_AF_joint_XY=0.770056;gnomADv4_1_AN_grpmax_joint=52635;gnomADv4_1_AN_joint=109471;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=31773;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=23393;gnomADv4_1_nhomalt_joint_XX=23393;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2848359 chrX_2848359_T_G T G 50 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=2.904;CADD_Rawscore=0.265147;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+5005T>G|||||||rs5982890||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-5621T>G|||||||rs5982890||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+5005T>G|||||||rs5982890||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+5005T>G|||||||rs5982890||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2848359T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5982890|4381|-1||HGNC|HGNC:40270|5||||||||Ensembl||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+5005T>G|||||||rs5982890||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+5005T>G|||||||rs5982890||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+5005T>G|||||||rs5982890||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+5005T>G|||||||rs5982890||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+5005T>G|||||||rs5982890||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-5621T>G|||||||rs5982890||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+5005T>G|||||||rs5982890||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+5005T>G|||||||rs5982890||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+5005T>G|||||||rs5982890||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+5005T>G|||||||rs5982890||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+5005T>G|||||||rs5982890||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+5005T>G|||||||rs5982890||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+5005T>G|||||||rs5982890||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+5005T>G|||||||rs5982890||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+5005T>G|||||||rs5982890||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+5005T>G|||||||rs5982890||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+5005T>G|||||||rs5982890||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+5005T>G|||||||rs5982890||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2848359T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+5005T>G|||||||rs5982890||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2848359T>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|42|33|-34|-2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15598;gnomADv4_1_AC_joint_XX=11258;gnomADv4_1_AC_joint_XY=4340;gnomADv4_1_AF_grpmax_joint=0.251167;gnomADv4_1_AF_joint=0.142062;gnomADv4_1_AF_joint_XX=0.144928;gnomADv4_1_AF_joint_XY=0.135131;gnomADv4_1_AN_grpmax_joint=3428;gnomADv4_1_AN_joint=109797;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=32117;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=845;gnomADv4_1_nhomalt_joint_XX=845;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2848498 chrX_2848498_AC_A AC A 41 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=41;CADDIndel_PHREDscore=0.522;CADDIndel_Rawscore=-0.182298;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+5146del|||||||rs11323468||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-5480del|||||||rs11323468||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+5146del|||||||rs11323468||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+5146del|||||||rs11323468||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C|||1|chrX:g.2848500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs11323468|4241|-1||HGNC|HGNC:40270|5||||||||Ensembl||C|C||||chrX:g.2848500del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+5146del|||||||rs11323468||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+5146del|||||||rs11323468||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+5146del|||||||rs11323468||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+5146del|||||||rs11323468||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+5146del|||||||rs11323468||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-5480del|||||||rs11323468||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+5146del|||||||rs11323468||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+5146del|||||||rs11323468||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+5146del|||||||rs11323468||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+5146del|||||||rs11323468||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+5146del|||||||rs11323468||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+5146del|||||||rs11323468||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+5146del|||||||rs11323468||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+5146del|||||||rs11323468||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+5146del|||||||rs11323468||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+5146del|||||||rs11323468||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+5146del|||||||rs11323468||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+5146del|||||||rs11323468||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C|||1|chrX:g.2848500del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+5146del|||||||rs11323468||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C|||1|chrX:g.2848500del|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|24|13|-25|16;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23219;gnomADv4_1_AC_joint_XX=17612;gnomADv4_1_AC_joint_XY=5607;gnomADv4_1_AF_grpmax_joint=0.401553;gnomADv4_1_AF_joint=0.216696;gnomADv4_1_AF_joint_XX=0.227722;gnomADv4_1_AF_joint_XY=0.188091;gnomADv4_1_AN_grpmax_joint=29107;gnomADv4_1_AN_joint=107150;gnomADv4_1_AN_joint_XX=77340;gnomADv4_1_AN_joint_XY=29810;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2590;gnomADv4_1_nhomalt_joint_XX=2590;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2848504 chrX_2848504_A_C A C 46 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=46;CADD_PHREDscore=1.213;CADD_Rawscore=0.032491;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+5150A>C|||||||rs112282907||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-5476A>C|||||||rs112282907||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+5150A>C|||||||rs112282907||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+5150A>C|||||||rs112282907||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2848504A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs112282907|4236|-1||HGNC|HGNC:40270|5||||||||Ensembl||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+5150A>C|||||||rs112282907||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+5150A>C|||||||rs112282907||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+5150A>C|||||||rs112282907||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+5150A>C|||||||rs112282907||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+5150A>C|||||||rs112282907||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-5476A>C|||||||rs112282907||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+5150A>C|||||||rs112282907||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+5150A>C|||||||rs112282907||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+5150A>C|||||||rs112282907||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+5150A>C|||||||rs112282907||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+5150A>C|||||||rs112282907||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+5150A>C|||||||rs112282907||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+5150A>C|||||||rs112282907||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+5150A>C|||||||rs112282907||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+5150A>C|||||||rs112282907||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+5150A>C|||||||rs112282907||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+5150A>C|||||||rs112282907||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+5150A>C|||||||rs112282907||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2848504A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+5150A>C|||||||rs112282907||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2848504A>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|7|24|31|10;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23238;gnomADv4_1_AC_joint_XX=17570;gnomADv4_1_AC_joint_XY=5668;gnomADv4_1_AF_grpmax_joint=0.404039;gnomADv4_1_AF_joint=0.219288;gnomADv4_1_AF_joint_XX=0.227384;gnomADv4_1_AF_joint_XY=0.197491;gnomADv4_1_AN_grpmax_joint=28871;gnomADv4_1_AN_joint=105970;gnomADv4_1_AN_joint_XX=77270;gnomADv4_1_AN_joint_XY=28700;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2567;gnomADv4_1_nhomalt_joint_XX=2567;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2848547 chrX_2848547_G_GAA;chrX_2848547_GA_G GA G 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=32;CADDIndel_PHREDscore=0.171;CADDIndel_Rawscore=-0.467533;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+5205del|||||||rs10689220||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-5421del|||||||rs10689220||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+5205del|||||||rs10689220||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+5205del|||||||rs10689220||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A|||11|chrX:g.2848559del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs10689220|4192|-1||HGNC|HGNC:40270|5||||||||Ensembl||A|A||||chrX:g.2848559del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+5205del|||||||rs10689220||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+5205del|||||||rs10689220||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+5205del|||||||rs10689220||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+5205del|||||||rs10689220||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+5205del|||||||rs10689220||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-5421del|||||||rs10689220||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+5205del|||||||rs10689220||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+5205del|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+5205del|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+5205del|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+5205del|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+5205del|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+5205del|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+5205del|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+5205del|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+5205del|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+5205del|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+5205del|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A|||11|chrX:g.2848559del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+5205del|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A|||11|chrX:g.2848559del|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-4|43|-25|43;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78092;gnomADv4_1_AC_joint_XX=58949;gnomADv4_1_AC_joint_XY=19143;gnomADv4_1_AF_grpmax_joint=0.879902;gnomADv4_1_AF_joint=0.788928;gnomADv4_1_AF_joint_XX=0.7801;gnomADv4_1_AF_joint_XY=0.817413;gnomADv4_1_AN_grpmax_joint=2040;gnomADv4_1_AN_joint=98985;gnomADv4_1_AN_joint_XX=75566;gnomADv4_1_AN_joint_XY=23419;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=23478;gnomADv4_1_nhomalt_joint_XX=23478;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2848547 chrX_2848547_G_GAA;chrX_2848547_GA_G G GAA 44 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=0.211;CADDIndel_Rawscore=-0.413384;CSQ=AA|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+5204_242+5205dup|||||||rs10689220||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-5422_198-5421dup|||||||rs10689220||1||HGNC|HGNC:4700|2||||||||Ensembl||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+5204_242+5205dup|||||||rs10689220||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+5204_149+5205dup|||||||rs10689220||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs10689220|4192|-1||HGNC|HGNC:40270|5||||||||Ensembl|||||||chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+5204_277+5205dup|||||||rs10689220||1||HGNC|HGNC:4700|3||||||||Ensembl||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+5204_149+5205dup|||||||rs10689220||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+5204_149+5205dup|||||||rs10689220||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+5204_149+5205dup|||||||rs10689220||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+5204_242+5205dup|||||||rs10689220||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-5422_-316-5421dup|||||||rs10689220||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+5204_242+5205dup|||||||rs10689220||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+5204_149+5205dup|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+5204_242+5205dup|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+5204_242+5205dup|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+5204_242+5205dup|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+5204_149+5205dup|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+5204_149+5205dup|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+5204_242+5205dup|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+5204_149+5205dup|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+5204_149+5205dup|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+5204_149+5205dup|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+5204_242+5205dup|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||12|chrX:g.2848558_2848559dup|||||||||||||,AA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+5204_149+5205dup|||||||rs10689220||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||12|chrX:g.2848558_2848559dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA,AA;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14201;gnomADv4_1_AC_joint_XX=11334;gnomADv4_1_AC_joint_XY=2867;gnomADv4_1_AF_grpmax_joint=0.231622;gnomADv4_1_AF_joint=0.143314;gnomADv4_1_AF_joint_XX=0.15002;gnomADv4_1_AF_joint_XY=0.121793;gnomADv4_1_AN_grpmax_joint=3156;gnomADv4_1_AN_joint=99090;gnomADv4_1_AN_joint_XX=75550;gnomADv4_1_AN_joint_XY=23540;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=899;gnomADv4_1_nhomalt_joint_XX=899;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2848630 chrX_2848630_G_C G C 50 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=1.048;CADD_Rawscore=-0.005559;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.242+5276G>C|||||||rs4892822||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-5350G>C|||||||rs4892822||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.242+5276G>C|||||||rs4892822||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.149+5276G>C|||||||rs4892822||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2848630G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs4892822|4110|-1||HGNC|HGNC:40270|5||||||||Ensembl||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+5276G>C|||||||rs4892822||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.149+5276G>C|||||||rs4892822||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.149+5276G>C|||||||rs4892822||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.149+5276G>C|||||||rs4892822||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.242+5276G>C|||||||rs4892822||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-5350G>C|||||||rs4892822||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.242+5276G>C|||||||rs4892822||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.149+5276G>C|||||||rs4892822||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.242+5276G>C|||||||rs4892822||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.242+5276G>C|||||||rs4892822||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.242+5276G>C|||||||rs4892822||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.149+5276G>C|||||||rs4892822||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.149+5276G>C|||||||rs4892822||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.242+5276G>C|||||||rs4892822||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.149+5276G>C|||||||rs4892822||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.149+5276G>C|||||||rs4892822||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.149+5276G>C|||||||rs4892822||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.242+5276G>C|||||||rs4892822||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2848630G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.149+5276G>C|||||||rs4892822||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2848630G>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|17|-6|-40|-6;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42674;gnomADv4_1_AC_joint_XX=30823;gnomADv4_1_AC_joint_XY=11851;gnomADv4_1_AF_grpmax_joint=0.619759;gnomADv4_1_AF_joint=0.389095;gnomADv4_1_AF_joint_XX=0.397019;gnomADv4_1_AF_joint_XY=0.369893;gnomADv4_1_AN_grpmax_joint=29981;gnomADv4_1_AN_joint=109675;gnomADv4_1_AN_joint_XX=77636;gnomADv4_1_AN_joint_XY=32039;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7016;gnomADv4_1_nhomalt_joint_XX=7016;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2848979 chrX_2848979_A_T A T 53 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=2.959;CADD_Rawscore=0.270544;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.243-5001A>T|||||||rs5982595||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-5001A>T|||||||rs5982595||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.243-5001A>T|||||||rs5982595||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.150-5001A>T|||||||rs5982595||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2848979A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5982595|3761|-1||HGNC|HGNC:40270|5||||||||Ensembl||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+5625A>T|||||||rs5982595||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.150-5001A>T|||||||rs5982595||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.150-5001A>T|||||||rs5982595||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.150-5001A>T|||||||rs5982595||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.243-5001A>T|||||||rs5982595||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-5001A>T|||||||rs5982595||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.243-5001A>T|||||||rs5982595||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.150-5001A>T|||||||rs5982595||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.243-5001A>T|||||||rs5982595||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.243-5001A>T|||||||rs5982595||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.243-5001A>T|||||||rs5982595||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.150-5001A>T|||||||rs5982595||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.150-5001A>T|||||||rs5982595||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.243-5001A>T|||||||rs5982595||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.150-5001A>T|||||||rs5982595||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.150-5001A>T|||||||rs5982595||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.150-5001A>T|||||||rs5982595||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.243-5001A>T|||||||rs5982595||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2848979A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.150-5001A>T|||||||rs5982595||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2848979A>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|-2|15|-2|2;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15575;gnomADv4_1_AC_joint_XX=11237;gnomADv4_1_AC_joint_XY=4338;gnomADv4_1_AF_grpmax_joint=0.228784;gnomADv4_1_AF_joint=0.141239;gnomADv4_1_AF_joint_XX=0.14462;gnomADv4_1_AF_joint_XY=0.133174;gnomADv4_1_AN_grpmax_joint=3488;gnomADv4_1_AN_joint=110274;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=32574;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=869;gnomADv4_1_nhomalt_joint_XX=869;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2849145 chrX_2849145_T_C T C 55 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=8.533;CADD_Rawscore=0.826006;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.243-4835T>C|||||||rs5982891||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-4835T>C|||||||rs5982891||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.243-4835T>C|||||||rs5982891||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.150-4835T>C|||||||rs5982891||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2849145T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5982891|3595|-1||HGNC|HGNC:40270|5||||||||Ensembl||T|T||||chrX:g.2849145T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs5982891|4915|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.277+5791T>C|||||||rs5982891||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.150-4835T>C|||||||rs5982891||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.150-4835T>C|||||||rs5982891||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.150-4835T>C|||||||rs5982891||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.243-4835T>C|||||||rs5982891||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-4835T>C|||||||rs5982891||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.243-4835T>C|||||||rs5982891||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.150-4835T>C|||||||rs5982891||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.243-4835T>C|||||||rs5982891||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.243-4835T>C|||||||rs5982891||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.243-4835T>C|||||||rs5982891||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.150-4835T>C|||||||rs5982891||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.150-4835T>C|||||||rs5982891||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.243-4835T>C|||||||rs5982891||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.150-4835T>C|||||||rs5982891||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.150-4835T>C|||||||rs5982891||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.150-4835T>C|||||||rs5982891||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.243-4835T>C|||||||rs5982891||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2849145T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.150-4835T>C|||||||rs5982891||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2849145T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_8493T|enhancer||||||||||rs5982891|||||||||||||||||||||chrX:g.2849145T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-28|18|12|-45;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1,ENSRX_8493T;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,.;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16161;gnomADv4_1_AC_joint_XX=11597;gnomADv4_1_AC_joint_XY=4564;gnomADv4_1_AF_grpmax_joint=0.246356;gnomADv4_1_AF_joint=0.145605;gnomADv4_1_AF_joint_XX=0.149158;gnomADv4_1_AF_joint_XY=0.137296;gnomADv4_1_AN_grpmax_joint=3499;gnomADv4_1_AN_joint=110992;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=33242;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=882;gnomADv4_1_nhomalt_joint_XX=882;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2849189 chrX_2849189_T_C T C 57 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=57;CADD_PHREDscore=0.43;CADD_Rawscore=-0.231018;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.243-4791T>C|||||||rs5982892||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-4791T>C|||||||rs5982892||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.243-4791T>C|||||||rs5982892||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.150-4791T>C|||||||rs5982892||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2849189T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5982892|3551|-1||HGNC|HGNC:40270|5||||||||Ensembl||T|T||||chrX:g.2849189T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs5982892|4871|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-5804T>C|||||||rs5982892||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.150-4791T>C|||||||rs5982892||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.150-4791T>C|||||||rs5982892||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.150-4791T>C|||||||rs5982892||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.243-4791T>C|||||||rs5982892||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-4791T>C|||||||rs5982892||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.243-4791T>C|||||||rs5982892||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.150-4791T>C|||||||rs5982892||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.243-4791T>C|||||||rs5982892||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.243-4791T>C|||||||rs5982892||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.243-4791T>C|||||||rs5982892||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.150-4791T>C|||||||rs5982892||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.150-4791T>C|||||||rs5982892||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.243-4791T>C|||||||rs5982892||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.150-4791T>C|||||||rs5982892||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.150-4791T>C|||||||rs5982892||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.150-4791T>C|||||||rs5982892||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.243-4791T>C|||||||rs5982892||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2849189T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.150-4791T>C|||||||rs5982892||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2849189T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_8493T|enhancer||||||||||rs5982892|||||||||||||||||||||chrX:g.2849189T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|0|36|3|-32;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1,ENSRX_8493T;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,.;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16471;gnomADv4_1_AC_joint_XX=11770;gnomADv4_1_AC_joint_XY=4701;gnomADv4_1_AF_grpmax_joint=0.25867;gnomADv4_1_AF_joint=0.14824;gnomADv4_1_AF_joint_XX=0.151305;gnomADv4_1_AF_joint_XY=0.141086;gnomADv4_1_AN_grpmax_joint=3518;gnomADv4_1_AN_joint=111110;gnomADv4_1_AN_joint_XX=77790;gnomADv4_1_AN_joint_XY=33320;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=912;gnomADv4_1_nhomalt_joint_XX=912;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2849317 chrX_2849317_T_C T C 44 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADD_PHREDscore=2.508;CADD_Rawscore=0.224531;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.243-4663T>C|||||||rs1018679555||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-4663T>C|||||||rs1018679555||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.243-4663T>C|||||||rs1018679555||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.150-4663T>C|||||||rs1018679555||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2849317T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs1018679555|3423|-1||HGNC|HGNC:40270|5||||||||Ensembl||T|T||||chrX:g.2849317T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs1018679555|4743|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-5676T>C|||||||rs1018679555||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.150-4663T>C|||||||rs1018679555||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.150-4663T>C|||||||rs1018679555||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.150-4663T>C|||||||rs1018679555||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.243-4663T>C|||||||rs1018679555||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-4663T>C|||||||rs1018679555||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.243-4663T>C|||||||rs1018679555||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.150-4663T>C|||||||rs1018679555||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.243-4663T>C|||||||rs1018679555||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.243-4663T>C|||||||rs1018679555||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.243-4663T>C|||||||rs1018679555||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.150-4663T>C|||||||rs1018679555||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.150-4663T>C|||||||rs1018679555||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.243-4663T>C|||||||rs1018679555||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.150-4663T>C|||||||rs1018679555||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.150-4663T>C|||||||rs1018679555||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.150-4663T>C|||||||rs1018679555||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.243-4663T>C|||||||rs1018679555||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2849317T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.150-4663T>C|||||||rs1018679555||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2849317T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_8493T|enhancer||||||||||rs1018679555|||||||||||||||||||||chrX:g.2849317T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|30|7|13|-6;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1,ENSRX_8493T;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,.;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=76;gnomADv4_1_AC_joint_XX=57;gnomADv4_1_AC_joint_XY=19;gnomADv4_1_AF_grpmax_joint=0.000169418;gnomADv4_1_AF_joint=0.000683232;gnomADv4_1_AF_joint_XX=0.000732478;gnomADv4_1_AF_joint_XY=0.000568556;gnomADv4_1_AN_grpmax_joint=53123;gnomADv4_1_AN_joint=111236;gnomADv4_1_AN_joint_XX=77818;gnomADv4_1_AN_joint_XY=33418;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2849331 chrX_2849331_G_A G A 54 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=1.337;CADD_Rawscore=0.057898;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.243-4649G>A|||||||rs59221408||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-4649G>A|||||||rs59221408||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.243-4649G>A|||||||rs59221408||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.150-4649G>A|||||||rs59221408||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2849331G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs59221408|3409|-1||HGNC|HGNC:40270|5||||||||Ensembl||G|G||||chrX:g.2849331G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs59221408|4729|1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-5662G>A|||||||rs59221408||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.150-4649G>A|||||||rs59221408||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.150-4649G>A|||||||rs59221408||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.150-4649G>A|||||||rs59221408||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.243-4649G>A|||||||rs59221408||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-4649G>A|||||||rs59221408||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.243-4649G>A|||||||rs59221408||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.150-4649G>A|||||||rs59221408||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.243-4649G>A|||||||rs59221408||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.243-4649G>A|||||||rs59221408||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.243-4649G>A|||||||rs59221408||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.150-4649G>A|||||||rs59221408||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.150-4649G>A|||||||rs59221408||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.243-4649G>A|||||||rs59221408||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.150-4649G>A|||||||rs59221408||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.150-4649G>A|||||||rs59221408||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.150-4649G>A|||||||rs59221408||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.243-4649G>A|||||||rs59221408||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2849331G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.150-4649G>A|||||||rs59221408||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2849331G>A|||||||||||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_8493T|enhancer||||||||||rs59221408|||||||||||||||||||||chrX:g.2849331G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|16|1|-20|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1,ENSRX_8493T;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,.;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15840;gnomADv4_1_AC_joint_XX=11392;gnomADv4_1_AC_joint_XY=4448;gnomADv4_1_AF_grpmax_joint=0.239542;gnomADv4_1_AF_joint=0.142924;gnomADv4_1_AF_joint_XX=0.146577;gnomADv4_1_AF_joint_XY=0.134348;gnomADv4_1_AN_grpmax_joint=3490;gnomADv4_1_AN_joint=110828;gnomADv4_1_AN_joint_XX=77720;gnomADv4_1_AN_joint_XY=33108;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=847;gnomADv4_1_nhomalt_joint_XX=847;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2849344 chrX_2849344_C_T C T 53 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=2.902;CADD_Rawscore=0.265004;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.243-4636C>T|||||||rs5982893||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-4636C>T|||||||rs5982893||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.243-4636C>T|||||||rs5982893||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.150-4636C>T|||||||rs5982893||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2849344C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5982893|3396|-1||HGNC|HGNC:40270|5||||||||Ensembl||C|C||||chrX:g.2849344C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs5982893|4716|1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-5649C>T|||||||rs5982893||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.150-4636C>T|||||||rs5982893||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.150-4636C>T|||||||rs5982893||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.150-4636C>T|||||||rs5982893||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.243-4636C>T|||||||rs5982893||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-4636C>T|||||||rs5982893||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.243-4636C>T|||||||rs5982893||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.150-4636C>T|||||||rs5982893||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.243-4636C>T|||||||rs5982893||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.243-4636C>T|||||||rs5982893||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.243-4636C>T|||||||rs5982893||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.150-4636C>T|||||||rs5982893||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.150-4636C>T|||||||rs5982893||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.243-4636C>T|||||||rs5982893||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.150-4636C>T|||||||rs5982893||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.150-4636C>T|||||||rs5982893||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.150-4636C>T|||||||rs5982893||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.243-4636C>T|||||||rs5982893||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2849344C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.150-4636C>T|||||||rs5982893||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2849344C>T|||||||||||||,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_8493T|enhancer||||||||||rs5982893|||||||||||||||||||||chrX:g.2849344C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|-33|-20|-33|26;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1,ENSRX_8493T;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,.;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15817;gnomADv4_1_AC_joint_XX=11382;gnomADv4_1_AC_joint_XY=4435;gnomADv4_1_AF_grpmax_joint=0.242738;gnomADv4_1_AF_joint=0.14313;gnomADv4_1_AF_joint_XX=0.146554;gnomADv4_1_AF_joint_XY=0.135032;gnomADv4_1_AN_grpmax_joint=3477;gnomADv4_1_AN_joint=110508;gnomADv4_1_AN_joint_XX=77664;gnomADv4_1_AN_joint_XY=32844;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=844;gnomADv4_1_nhomalt_joint_XX=844;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2850570 chrX_2850570_C_G C G 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=40;CADD_PHREDscore=1.735;CADD_Rawscore=0.12641;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.243-3410C>G|||||||rs2316287||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2850570C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs2316287|4551|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-3410C>G|||||||rs2316287||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.243-3410C>G|||||||rs2316287||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.150-3410C>G|||||||rs2316287||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2850570C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs2316287|2170|-1||HGNC|HGNC:40270|5||||||||Ensembl||C|C||||chrX:g.2850570C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs2316287|3490|1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-4423C>G|||||||rs2316287||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.150-3410C>G|||||||rs2316287||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.150-3410C>G|||||||rs2316287||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.150-3410C>G|||||||rs2316287||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.243-3410C>G|||||||rs2316287||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-3410C>G|||||||rs2316287||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.243-3410C>G|||||||rs2316287||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.150-3410C>G|||||||rs2316287||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.243-3410C>G|||||||rs2316287||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.243-3410C>G|||||||rs2316287||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.243-3410C>G|||||||rs2316287||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.150-3410C>G|||||||rs2316287||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.150-3410C>G|||||||rs2316287||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.243-3410C>G|||||||rs2316287||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.150-3410C>G|||||||rs2316287||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.150-3410C>G|||||||rs2316287||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.150-3410C>G|||||||rs2316287||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.243-3410C>G|||||||rs2316287||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2850570C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.150-3410C>G|||||||rs2316287||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2850570C>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|1|19|-5|19;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62479;gnomADv4_1_AC_joint_XX=43775;gnomADv4_1_AC_joint_XY=18704;gnomADv4_1_AF_grpmax_joint=0.70793;gnomADv4_1_AF_joint=0.566739;gnomADv4_1_AF_joint_XX=0.563051;gnomADv4_1_AF_joint_XY=0.575561;gnomADv4_1_AN_grpmax_joint=10227;gnomADv4_1_AN_joint=110243;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=32497;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=14208;gnomADv4_1_nhomalt_joint_XX=14208;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2850595 chrX_2850595_G_A G A 60 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=60;CADD_PHREDscore=1.094;CADD_Rawscore=0.005591;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.243-3385G>A|||||||rs2316286||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2850595G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs2316286|4526|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-3385G>A|||||||rs2316286||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.243-3385G>A|||||||rs2316286||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.150-3385G>A|||||||rs2316286||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2850595G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs2316286|2145|-1||HGNC|HGNC:40270|5||||||||Ensembl||G|G||||chrX:g.2850595G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs2316286|3465|1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-4398G>A|||||||rs2316286||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.150-3385G>A|||||||rs2316286||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.150-3385G>A|||||||rs2316286||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.150-3385G>A|||||||rs2316286||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.243-3385G>A|||||||rs2316286||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-3385G>A|||||||rs2316286||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.243-3385G>A|||||||rs2316286||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.150-3385G>A|||||||rs2316286||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.243-3385G>A|||||||rs2316286||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.243-3385G>A|||||||rs2316286||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.243-3385G>A|||||||rs2316286||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.150-3385G>A|||||||rs2316286||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.150-3385G>A|||||||rs2316286||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.243-3385G>A|||||||rs2316286||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.150-3385G>A|||||||rs2316286||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.150-3385G>A|||||||rs2316286||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.150-3385G>A|||||||rs2316286||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.243-3385G>A|||||||rs2316286||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2850595G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.150-3385G>A|||||||rs2316286||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2850595G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|2|-6|-6|47;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=104134;gnomADv4_1_AC_joint_XX=73393;gnomADv4_1_AC_joint_XY=30741;gnomADv4_1_AF_grpmax_joint=0.999425;gnomADv4_1_AF_joint=0.945864;gnomADv4_1_AF_joint_XX=0.943597;gnomADv4_1_AF_joint_XY=0.951321;gnomADv4_1_AN_grpmax_joint=3478;gnomADv4_1_AN_joint=110094;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=32314;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34863;gnomADv4_1_nhomalt_joint_XX=34863;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2850672 chrX_2850672_T_C T C 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=37;CADD_PHREDscore=10.46;CADD_Rawscore=1.01081;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.243-3308T>C|||||||rs5939358||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2850672T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs5939358|4449|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-3308T>C|||||||rs5939358||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.243-3308T>C|||||||rs5939358||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.150-3308T>C|||||||rs5939358||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2850672T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5939358|2068|-1||HGNC|HGNC:40270|5||||||||Ensembl||T|T||||chrX:g.2850672T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs5939358|3388|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-4321T>C|||||||rs5939358||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.150-3308T>C|||||||rs5939358||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.150-3308T>C|||||||rs5939358||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.150-3308T>C|||||||rs5939358||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.243-3308T>C|||||||rs5939358||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-3308T>C|||||||rs5939358||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.243-3308T>C|||||||rs5939358||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.150-3308T>C|||||||rs5939358||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.243-3308T>C|||||||rs5939358||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.243-3308T>C|||||||rs5939358||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.243-3308T>C|||||||rs5939358||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.150-3308T>C|||||||rs5939358||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.150-3308T>C|||||||rs5939358||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.243-3308T>C|||||||rs5939358||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.150-3308T>C|||||||rs5939358||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.150-3308T>C|||||||rs5939358||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.150-3308T>C|||||||rs5939358||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.243-3308T>C|||||||rs5939358||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2850672T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.150-3308T>C|||||||rs5939358||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2850672T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-40|41|-5|-30;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62116;gnomADv4_1_AC_joint_XX=43674;gnomADv4_1_AC_joint_XY=18442;gnomADv4_1_AF_grpmax_joint=0.709046;gnomADv4_1_AF_joint=0.564599;gnomADv4_1_AF_joint_XX=0.561796;gnomADv4_1_AF_joint_XY=0.571349;gnomADv4_1_AN_grpmax_joint=10225;gnomADv4_1_AN_joint=110018;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=32278;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=14188;gnomADv4_1_nhomalt_joint_XX=14188;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2850810 chrX_2850810_C_T C T 52 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=1.536;CADD_Rawscore=0.094347;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.243-3170C>T|||||||rs9320050||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2850810C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs9320050|4311|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-3170C>T|||||||rs9320050||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.243-3170C>T|||||||rs9320050||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.150-3170C>T|||||||rs9320050||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2850810C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs9320050|1930|-1||HGNC|HGNC:40270|5||||||||Ensembl||C|C||||chrX:g.2850810C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs9320050|3250|1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-4183C>T|||||||rs9320050||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.150-3170C>T|||||||rs9320050||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.150-3170C>T|||||||rs9320050||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.150-3170C>T|||||||rs9320050||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.243-3170C>T|||||||rs9320050||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-3170C>T|||||||rs9320050||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.243-3170C>T|||||||rs9320050||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.150-3170C>T|||||||rs9320050||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.243-3170C>T|||||||rs9320050||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.243-3170C>T|||||||rs9320050||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.243-3170C>T|||||||rs9320050||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.150-3170C>T|||||||rs9320050||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.150-3170C>T|||||||rs9320050||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.243-3170C>T|||||||rs9320050||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.150-3170C>T|||||||rs9320050||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.150-3170C>T|||||||rs9320050||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.150-3170C>T|||||||rs9320050||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.243-3170C>T|||||||rs9320050||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2850810C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.150-3170C>T|||||||rs9320050||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2850810C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|46|1|-35|10;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17349;gnomADv4_1_AC_joint_XX=12707;gnomADv4_1_AC_joint_XY=4642;gnomADv4_1_AF_grpmax_joint=0.239907;gnomADv4_1_AF_joint=0.158782;gnomADv4_1_AF_joint_XX=0.163632;gnomADv4_1_AF_joint_XY=0.146866;gnomADv4_1_AN_grpmax_joint=3443;gnomADv4_1_AN_joint=109263;gnomADv4_1_AN_joint_XX=77656;gnomADv4_1_AN_joint_XY=31607;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1081;gnomADv4_1_nhomalt_joint_XX=1081;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2850823 chrX_2850823_A_G A G 51 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=2.116;CADD_Rawscore=0.178886;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.243-3157A>G|||||||rs9320051||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2850823A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs9320051|4298|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-3157A>G|||||||rs9320051||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.243-3157A>G|||||||rs9320051||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.150-3157A>G|||||||rs9320051||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2850823A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs9320051|1917|-1||HGNC|HGNC:40270|5||||||||Ensembl||A|A||||chrX:g.2850823A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs9320051|3237|1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-4170A>G|||||||rs9320051||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.150-3157A>G|||||||rs9320051||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.150-3157A>G|||||||rs9320051||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.150-3157A>G|||||||rs9320051||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.243-3157A>G|||||||rs9320051||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-3157A>G|||||||rs9320051||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.243-3157A>G|||||||rs9320051||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.150-3157A>G|||||||rs9320051||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.243-3157A>G|||||||rs9320051||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.243-3157A>G|||||||rs9320051||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.243-3157A>G|||||||rs9320051||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.150-3157A>G|||||||rs9320051||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.150-3157A>G|||||||rs9320051||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.243-3157A>G|||||||rs9320051||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.150-3157A>G|||||||rs9320051||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.150-3157A>G|||||||rs9320051||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.150-3157A>G|||||||rs9320051||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.243-3157A>G|||||||rs9320051||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2850823A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.150-3157A>G|||||||rs9320051||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2850823A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|33|48|47|-3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17572;gnomADv4_1_AC_joint_XX=12801;gnomADv4_1_AC_joint_XY=4771;gnomADv4_1_AF_grpmax_joint=0.241139;gnomADv4_1_AF_joint=0.161146;gnomADv4_1_AF_joint_XX=0.164898;gnomADv4_1_AF_joint_XY=0.151875;gnomADv4_1_AN_grpmax_joint=3442;gnomADv4_1_AN_joint=109044;gnomADv4_1_AN_joint_XX=77630;gnomADv4_1_AN_joint_XY=31414;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1092;gnomADv4_1_nhomalt_joint_XX=1092;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2850868 chrX_2850868_T_C T C 49 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=1.111;CADD_Rawscore=0.009423;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.243-3112T>C|||||||rs5939359||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2850868T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs5939359|4253|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-3112T>C|||||||rs5939359||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.243-3112T>C|||||||rs5939359||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.150-3112T>C|||||||rs5939359||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2850868T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5939359|1872|-1||HGNC|HGNC:40270|5||||||||Ensembl||T|T||||chrX:g.2850868T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs5939359|3192|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-4125T>C|||||||rs5939359||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.150-3112T>C|||||||rs5939359||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.150-3112T>C|||||||rs5939359||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.150-3112T>C|||||||rs5939359||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.243-3112T>C|||||||rs5939359||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-3112T>C|||||||rs5939359||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.243-3112T>C|||||||rs5939359||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.150-3112T>C|||||||rs5939359||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.243-3112T>C|||||||rs5939359||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.243-3112T>C|||||||rs5939359||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.243-3112T>C|||||||rs5939359||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.150-3112T>C|||||||rs5939359||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.150-3112T>C|||||||rs5939359||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.243-3112T>C|||||||rs5939359||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.150-3112T>C|||||||rs5939359||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.150-3112T>C|||||||rs5939359||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.150-3112T>C|||||||rs5939359||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.243-3112T>C|||||||rs5939359||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2850868T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.150-3112T>C|||||||rs5939359||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2850868T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-12|3|2|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=105589;gnomADv4_1_AC_joint_XX=74922;gnomADv4_1_AC_joint_XY=30667;gnomADv4_1_AF_grpmax_joint=0.999712;gnomADv4_1_AF_joint=0.964732;gnomADv4_1_AF_joint_XX=0.963354;gnomADv4_1_AF_joint_XY=0.968116;gnomADv4_1_AN_grpmax_joint=3468;gnomADv4_1_AN_joint=109449;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=31677;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=36206;gnomADv4_1_nhomalt_joint_XX=36206;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2851062 chrX_2851062_A_T A T 32 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=32;CADD_PHREDscore=2.795;CADD_Rawscore=0.254437;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.243-2918A>T|||||||rs6641662||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2851062A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs6641662|4059|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-2918A>T|||||||rs6641662||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.243-2918A>T|||||||rs6641662||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.150-2918A>T|||||||rs6641662||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2851062A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs6641662|1678|-1||HGNC|HGNC:40270|5||||||||Ensembl||A|A||||chrX:g.2851062A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs6641662|2998|1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-3931A>T|||||||rs6641662||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.150-2918A>T|||||||rs6641662||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.150-2918A>T|||||||rs6641662||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.150-2918A>T|||||||rs6641662||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.243-2918A>T|||||||rs6641662||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-2918A>T|||||||rs6641662||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.243-2918A>T|||||||rs6641662||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.150-2918A>T|||||||rs6641662||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.243-2918A>T|||||||rs6641662||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.243-2918A>T|||||||rs6641662||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.243-2918A>T|||||||rs6641662||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.150-2918A>T|||||||rs6641662||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.150-2918A>T|||||||rs6641662||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.243-2918A>T|||||||rs6641662||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.150-2918A>T|||||||rs6641662||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.150-2918A>T|||||||rs6641662||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.150-2918A>T|||||||rs6641662||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.243-2918A>T|||||||rs6641662||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2851062A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.150-2918A>T|||||||rs6641662||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2851062A>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|6|2|5|-40;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62481;gnomADv4_1_AC_joint_XX=43607;gnomADv4_1_AC_joint_XY=18874;gnomADv4_1_AF_grpmax_joint=0.705621;gnomADv4_1_AF_joint=0.562796;gnomADv4_1_AF_joint_XX=0.560674;gnomADv4_1_AF_joint_XY=0.567759;gnomADv4_1_AN_grpmax_joint=10371;gnomADv4_1_AN_joint=111019;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=33243;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=14137;gnomADv4_1_nhomalt_joint_XX=14137;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2851293 chrX_2851293_C_T C T 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=0.885;CADD_Rawscore=-0.049445;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.243-2687C>T|||||||rs5939360||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2851293C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs5939360|3828|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-2687C>T|||||||rs5939360||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.243-2687C>T|||||||rs5939360||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.150-2687C>T|||||||rs5939360||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2851293C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5939360|1447|-1||HGNC|HGNC:40270|5||||||||Ensembl||C|C||||chrX:g.2851293C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs5939360|2767|1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-3700C>T|||||||rs5939360||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.150-2687C>T|||||||rs5939360||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.150-2687C>T|||||||rs5939360||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.150-2687C>T|||||||rs5939360||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.243-2687C>T|||||||rs5939360||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-2687C>T|||||||rs5939360||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.243-2687C>T|||||||rs5939360||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.150-2687C>T|||||||rs5939360||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.243-2687C>T|||||||rs5939360||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.243-2687C>T|||||||rs5939360||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.243-2687C>T|||||||rs5939360||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.150-2687C>T|||||||rs5939360||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.150-2687C>T|||||||rs5939360||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.243-2687C>T|||||||rs5939360||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.150-2687C>T|||||||rs5939360||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.150-2687C>T|||||||rs5939360||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.150-2687C>T|||||||rs5939360||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.243-2687C>T|||||||rs5939360||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2851293C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.150-2687C>T|||||||rs5939360||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2851293C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|-33|-22|-30|47;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=86974;gnomADv4_1_AC_joint_XX=60957;gnomADv4_1_AC_joint_XY=26017;gnomADv4_1_AF_grpmax_joint=0.893955;gnomADv4_1_AF_joint=0.786334;gnomADv4_1_AF_joint_XX=0.783731;gnomADv4_1_AF_joint_XY=0.792501;gnomADv4_1_AN_grpmax_joint=10373;gnomADv4_1_AN_joint=110607;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=32829;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=24610;gnomADv4_1_nhomalt_joint_XX=24610;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2853273 chrX_2853273_C_T C T 59 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=59;CADD_PHREDscore=0.192;CADD_Rawscore=-0.437664;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||3/8|ENST00000353656.10:c.243-707C>T|||||||rs7058332||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2853273C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs7058332|1848|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||2/7|ENST00000381161.5:n.198-707C>T|||||||rs7058332||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||4/11|ENST00000381163.7:c.243-707C>T|||||||rs7058332||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||3/10|ENST00000398806.8:c.150-707C>T|||||||rs7058332||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||1/1|ENST00000445107.1:n.245+243G>A|||||||rs7058332||-1||HGNC|HGNC:40270|5||||||||Ensembl||C|C||||chrX:g.2853273C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs7058332|787|1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-1720C>T|||||||rs7058332||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||3/4|ENST00000520904.3:c.150-707C>T|||||||rs7058332||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||3/10|NM_001079855.2:c.150-707C>T|||||||rs7058332||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||3/10|NM_001184702.2:c.150-707C>T|||||||rs7058332||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||4/9|NM_001184703.2:c.243-707C>T|||||||rs7058332||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||2/7|NM_001184704.2:c.-316-707C>T|||||||rs7058332||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||4/11|NM_003918.3:c.243-707C>T|||||||rs7058332||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||3/10|XM_011545600.3:c.150-707C>T|||||||rs7058332||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||4/11|XM_017029927.2:c.243-707C>T|||||||rs7058332||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||4/11|XM_017029928.2:c.243-707C>T|||||||rs7058332||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||4/11|XM_017029929.2:c.243-707C>T|||||||rs7058332||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||3/8|XM_017029930.2:c.150-707C>T|||||||rs7058332||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||3/8|XM_017029931.2:c.150-707C>T|||||||rs7058332||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||4/11|XM_047442608.1:c.243-707C>T|||||||rs7058332||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||3/10|XM_047442609.1:c.150-707C>T|||||||rs7058332||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||3/10|XM_047442610.1:c.150-707C>T|||||||rs7058332||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||3/10|XM_047442611.1:c.150-707C>T|||||||rs7058332||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||4/9|XM_047442612.1:c.243-707C>T|||||||rs7058332||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2853273C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||3/8|XM_047442613.1:c.150-707C>T|||||||rs7058332||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2853273C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|9|-37|-18|8;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=67797;gnomADv4_1_AC_joint_XX=47962;gnomADv4_1_AC_joint_XY=19835;gnomADv4_1_AF_grpmax_joint=0.801148;gnomADv4_1_AF_joint=0.615654;gnomADv4_1_AF_joint_XX=0.617081;gnomADv4_1_AF_joint_XY=0.612229;gnomADv4_1_AN_grpmax_joint=3485;gnomADv4_1_AN_joint=110122;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=32398;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16222;gnomADv4_1_nhomalt_joint_XX=16222;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2854234 chrX_2854234_G_T G T 56 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=0.643;CADD_Rawscore=-0.13015;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||4/8|ENST00000353656.10:c.417+80G>T|||||||rs4892898||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs4892898|887|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||3/7|ENST00000381161.5:n.372+80G>T|||||||rs4892898||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||5/11|ENST00000381163.7:c.417+80G>T|||||||rs4892898||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||4/10|ENST00000398806.8:c.324+80G>T|||||||rs4892898||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs4892898|474|-1||HGNC|HGNC:40270|5||||||||Ensembl||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||1/6|ENST00000453106.1:n.95+80G>T|||||||rs4892898||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-759G>T|||||||rs4892898||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||4/4|ENST00000520904.3:c.324+80G>T|||||||rs4892898||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||4/10|NM_001079855.2:c.324+80G>T|||||||rs4892898||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||4/10|NM_001184702.2:c.324+80G>T|||||||rs4892898||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||5/9|NM_001184703.2:c.417+80G>T|||||||rs4892898||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||3/7|NM_001184704.2:c.-142+80G>T|||||||rs4892898||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||5/11|NM_003918.3:c.417+80G>T|||||||rs4892898||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||4/10|XM_011545600.3:c.324+80G>T|||||||rs4892898||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||5/11|XM_017029927.2:c.417+80G>T|||||||rs4892898||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||5/11|XM_017029928.2:c.417+80G>T|||||||rs4892898||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||5/11|XM_017029929.2:c.417+80G>T|||||||rs4892898||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||4/8|XM_017029930.2:c.324+80G>T|||||||rs4892898||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||4/8|XM_017029931.2:c.324+80G>T|||||||rs4892898||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||5/11|XM_047442608.1:c.417+80G>T|||||||rs4892898||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||4/10|XM_047442609.1:c.324+80G>T|||||||rs4892898||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||4/10|XM_047442610.1:c.324+80G>T|||||||rs4892898||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||4/10|XM_047442611.1:c.324+80G>T|||||||rs4892898||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||5/9|XM_047442612.1:c.417+80G>T|||||||rs4892898||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2854234G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||4/8|XM_047442613.1:c.324+80G>T|||||||rs4892898||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2854234G>T|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2854234G>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=1294376;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|17|1|-18|-1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=158300;gnomADv4_1_AC_joint_XX=118284;gnomADv4_1_AC_joint_XY=40016;gnomADv4_1_AF_grpmax_joint=0.370879;gnomADv4_1_AF_joint=0.236538;gnomADv4_1_AF_joint_XX=0.236183;gnomADv4_1_AF_joint_XY=0.237594;gnomADv4_1_AN_grpmax_joint=30239;gnomADv4_1_AN_joint=669238;gnomADv4_1_AN_joint_XX=500816;gnomADv4_1_AN_joint_XY=168422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=13551;gnomADv4_1_nhomalt_joint_XX=13551;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2854357 chrX_2854357_T_G T G 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.424;CADD_Rawscore=-0.23473;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||4/8|ENST00000353656.10:c.417+203T>G|||||||rs6420593||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs6420593|764|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||3/7|ENST00000381161.5:n.372+203T>G|||||||rs6420593||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||5/11|ENST00000381163.7:c.417+203T>G|||||||rs6420593||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||4/10|ENST00000398806.8:c.324+203T>G|||||||rs6420593||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs6420593|597|-1||HGNC|HGNC:40270|5||||||||Ensembl||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||1/6|ENST00000453106.1:n.95+203T>G|||||||rs6420593||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-636T>G|||||||rs6420593||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||4/4|ENST00000520904.3:c.324+203T>G|||||||rs6420593||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||4/10|NM_001079855.2:c.324+203T>G|||||||rs6420593||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||4/10|NM_001184702.2:c.324+203T>G|||||||rs6420593||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||5/9|NM_001184703.2:c.417+203T>G|||||||rs6420593||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||3/7|NM_001184704.2:c.-142+203T>G|||||||rs6420593||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||5/11|NM_003918.3:c.417+203T>G|||||||rs6420593||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||4/10|XM_011545600.3:c.324+203T>G|||||||rs6420593||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||5/11|XM_017029927.2:c.417+203T>G|||||||rs6420593||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||5/11|XM_017029928.2:c.417+203T>G|||||||rs6420593||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||5/11|XM_017029929.2:c.417+203T>G|||||||rs6420593||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||4/8|XM_017029930.2:c.324+203T>G|||||||rs6420593||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||4/8|XM_017029931.2:c.324+203T>G|||||||rs6420593||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||5/11|XM_047442608.1:c.417+203T>G|||||||rs6420593||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||4/10|XM_047442609.1:c.324+203T>G|||||||rs6420593||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||4/10|XM_047442610.1:c.324+203T>G|||||||rs6420593||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||4/10|XM_047442611.1:c.324+203T>G|||||||rs6420593||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||5/9|XM_047442612.1:c.417+203T>G|||||||rs6420593||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2854357T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||4/8|XM_047442613.1:c.324+203T>G|||||||rs6420593||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2854357T>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2854357T>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=684114;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-16|8|26|-35;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=103393;gnomADv4_1_AC_joint_XX=72455;gnomADv4_1_AC_joint_XY=30938;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.934212;gnomADv4_1_AF_joint_XX=0.931538;gnomADv4_1_AF_joint_XY=0.940536;gnomADv4_1_AN_grpmax_joint=3470;gnomADv4_1_AN_joint=110674;gnomADv4_1_AN_joint_XX=77780;gnomADv4_1_AN_joint_XY=32894;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34119;gnomADv4_1_nhomalt_joint_XX=34119;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2854619 chrX_2854619_G_A G A 56 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=0.199;CADD_Rawscore=-0.428793;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||4/8|ENST00000353656.10:c.418-374G>A|||||||rs7879795||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2854619G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs7879795|502|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||3/7|ENST00000381161.5:n.373-374G>A|||||||rs7879795||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||5/11|ENST00000381163.7:c.418-374G>A|||||||rs7879795||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||4/10|ENST00000398806.8:c.325-374G>A|||||||rs7879795||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2854619G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs7879795|859|-1||HGNC|HGNC:40270|5||||||||Ensembl||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||1/6|ENST00000453106.1:n.96-374G>A|||||||rs7879795||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-374G>A|||||||rs7879795||1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||4/4|ENST00000520904.3:c.325-374G>A|||||||rs7879795||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||4/10|NM_001079855.2:c.325-374G>A|||||||rs7879795||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||4/10|NM_001184702.2:c.325-374G>A|||||||rs7879795||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||5/9|NM_001184703.2:c.418-374G>A|||||||rs7879795||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||3/7|NM_001184704.2:c.-141-374G>A|||||||rs7879795||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||5/11|NM_003918.3:c.418-374G>A|||||||rs7879795||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||4/10|XM_011545600.3:c.325-374G>A|||||||rs7879795||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||5/11|XM_017029927.2:c.418-374G>A|||||||rs7879795||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||5/11|XM_017029928.2:c.418-374G>A|||||||rs7879795||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||5/11|XM_017029929.2:c.418-374G>A|||||||rs7879795||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||4/8|XM_017029930.2:c.325-374G>A|||||||rs7879795||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||4/8|XM_017029931.2:c.325-374G>A|||||||rs7879795||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||5/11|XM_047442608.1:c.418-374G>A|||||||rs7879795||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||4/10|XM_047442609.1:c.325-374G>A|||||||rs7879795||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||4/10|XM_047442610.1:c.325-374G>A|||||||rs7879795||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||4/10|XM_047442611.1:c.325-374G>A|||||||rs7879795||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||5/9|XM_047442612.1:c.418-374G>A|||||||rs7879795||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2854619G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||4/8|XM_047442613.1:c.325-374G>A|||||||rs7879795||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2854619G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|11|-29|-30|-12;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59096;gnomADv4_1_AC_joint_XX=41692;gnomADv4_1_AC_joint_XY=17404;gnomADv4_1_AF_grpmax_joint=0.753575;gnomADv4_1_AF_joint=0.533921;gnomADv4_1_AF_joint_XX=0.536452;gnomADv4_1_AF_joint_XY=0.527954;gnomADv4_1_AN_grpmax_joint=30419;gnomADv4_1_AN_joint=110683;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=32965;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=12050;gnomADv4_1_nhomalt_joint_XX=12050;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2854653 chrX_2854653_A_G A G 53 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=1.872;CADD_Rawscore=0.146425;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||4/8|ENST00000353656.10:c.418-340A>G|||||||rs7882856||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2854653A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs7882856|468|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||3/7|ENST00000381161.5:n.373-340A>G|||||||rs7882856||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||5/11|ENST00000381163.7:c.418-340A>G|||||||rs7882856||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||4/10|ENST00000398806.8:c.325-340A>G|||||||rs7882856||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2854653A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs7882856|893|-1||HGNC|HGNC:40270|5||||||||Ensembl||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||1/6|ENST00000453106.1:n.96-340A>G|||||||rs7882856||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-340A>G|||||||rs7882856||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||4/4|ENST00000520904.3:c.325-340A>G|||||||rs7882856||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||4/10|NM_001079855.2:c.325-340A>G|||||||rs7882856||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||4/10|NM_001184702.2:c.325-340A>G|||||||rs7882856||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||5/9|NM_001184703.2:c.418-340A>G|||||||rs7882856||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||3/7|NM_001184704.2:c.-141-340A>G|||||||rs7882856||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||5/11|NM_003918.3:c.418-340A>G|||||||rs7882856||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||4/10|XM_011545600.3:c.325-340A>G|||||||rs7882856||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||5/11|XM_017029927.2:c.418-340A>G|||||||rs7882856||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||5/11|XM_017029928.2:c.418-340A>G|||||||rs7882856||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||5/11|XM_017029929.2:c.418-340A>G|||||||rs7882856||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||4/8|XM_017029930.2:c.325-340A>G|||||||rs7882856||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||4/8|XM_017029931.2:c.325-340A>G|||||||rs7882856||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||5/11|XM_047442608.1:c.418-340A>G|||||||rs7882856||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||4/10|XM_047442609.1:c.325-340A>G|||||||rs7882856||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||4/10|XM_047442610.1:c.325-340A>G|||||||rs7882856||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||4/10|XM_047442611.1:c.325-340A>G|||||||rs7882856||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||5/9|XM_047442612.1:c.418-340A>G|||||||rs7882856||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2854653A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||4/8|XM_047442613.1:c.325-340A>G|||||||rs7882856||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2854653A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-1|-23|-23|-46;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59339;gnomADv4_1_AC_joint_XX=41741;gnomADv4_1_AC_joint_XY=17598;gnomADv4_1_AF_grpmax_joint=0.753012;gnomADv4_1_AF_joint=0.534278;gnomADv4_1_AF_joint_XX=0.536972;gnomADv4_1_AF_joint_XY=0.527993;gnomADv4_1_AN_grpmax_joint=30548;gnomADv4_1_AN_joint=111064;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=33330;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=12065;gnomADv4_1_nhomalt_joint_XX=12065;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2854731 chrX_2854731_T_C T C 43 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=43;CADD_PHREDscore=0.815;CADD_Rawscore=-0.070342;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||4/8|ENST00000353656.10:c.418-262T>C|||||||rs6567664||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs6567664|390|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||3/7|ENST00000381161.5:n.373-262T>C|||||||rs6567664||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||5/11|ENST00000381163.7:c.418-262T>C|||||||rs6567664||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||4/10|ENST00000398806.8:c.325-262T>C|||||||rs6567664||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs6567664|971|-1||HGNC|HGNC:40270|5||||||||Ensembl||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||1/6|ENST00000453106.1:n.96-262T>C|||||||rs6567664||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-262T>C|||||||rs6567664||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||4/4|ENST00000520904.3:c.325-262T>C|||||||rs6567664||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||4/10|NM_001079855.2:c.325-262T>C|||||||rs6567664||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||4/10|NM_001184702.2:c.325-262T>C|||||||rs6567664||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||5/9|NM_001184703.2:c.418-262T>C|||||||rs6567664||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||3/7|NM_001184704.2:c.-141-262T>C|||||||rs6567664||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||5/11|NM_003918.3:c.418-262T>C|||||||rs6567664||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||4/10|XM_011545600.3:c.325-262T>C|||||||rs6567664||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||5/11|XM_017029927.2:c.418-262T>C|||||||rs6567664||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||5/11|XM_017029928.2:c.418-262T>C|||||||rs6567664||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||5/11|XM_017029929.2:c.418-262T>C|||||||rs6567664||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||4/8|XM_017029930.2:c.325-262T>C|||||||rs6567664||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||4/8|XM_017029931.2:c.325-262T>C|||||||rs6567664||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||5/11|XM_047442608.1:c.418-262T>C|||||||rs6567664||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||4/10|XM_047442609.1:c.325-262T>C|||||||rs6567664||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||4/10|XM_047442610.1:c.325-262T>C|||||||rs6567664||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||4/10|XM_047442611.1:c.325-262T>C|||||||rs6567664||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||5/9|XM_047442612.1:c.418-262T>C|||||||rs6567664||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2854731T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||4/8|XM_047442613.1:c.325-262T>C|||||||rs6567664||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2854731T>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2854731T>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=684115;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|21|19|21|-9;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=85813;gnomADv4_1_AC_joint_XX=60020;gnomADv4_1_AC_joint_XY=25793;gnomADv4_1_AF_grpmax_joint=0.875576;gnomADv4_1_AF_joint=0.775655;gnomADv4_1_AF_joint_XX=0.772001;gnomADv4_1_AF_joint_XY=0.784292;gnomADv4_1_AN_grpmax_joint=217;gnomADv4_1_AN_joint=110633;gnomADv4_1_AN_joint_XX=77746;gnomADv4_1_AN_joint_XY=32887;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=23552;gnomADv4_1_nhomalt_joint_XX=23552;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2854751 chrX_2854751_C_T C T 62 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=62;CADD_PHREDscore=1.331;CADD_Rawscore=0.056647;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||4/8|ENST00000353656.10:c.418-242C>T|||||||rs6567665||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs6567665|370|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||3/7|ENST00000381161.5:n.373-242C>T|||||||rs6567665||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||5/11|ENST00000381163.7:c.418-242C>T|||||||rs6567665||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||4/10|ENST00000398806.8:c.325-242C>T|||||||rs6567665||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs6567665|991|-1||HGNC|HGNC:40270|5||||||||Ensembl||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||1/6|ENST00000453106.1:n.96-242C>T|||||||rs6567665||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||2/3|ENST00000469234.6:n.278-242C>T|||||||rs6567665||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||4/4|ENST00000520904.3:c.325-242C>T|||||||rs6567665||1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||4/10|NM_001079855.2:c.325-242C>T|||||||rs6567665||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||4/10|NM_001184702.2:c.325-242C>T|||||||rs6567665||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||5/9|NM_001184703.2:c.418-242C>T|||||||rs6567665||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||3/7|NM_001184704.2:c.-141-242C>T|||||||rs6567665||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||5/11|NM_003918.3:c.418-242C>T|||||||rs6567665||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||4/10|XM_011545600.3:c.325-242C>T|||||||rs6567665||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||5/11|XM_017029927.2:c.418-242C>T|||||||rs6567665||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||5/11|XM_017029928.2:c.418-242C>T|||||||rs6567665||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||5/11|XM_017029929.2:c.418-242C>T|||||||rs6567665||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||4/8|XM_017029930.2:c.325-242C>T|||||||rs6567665||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||4/8|XM_017029931.2:c.325-242C>T|||||||rs6567665||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||5/11|XM_047442608.1:c.418-242C>T|||||||rs6567665||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||4/10|XM_047442609.1:c.325-242C>T|||||||rs6567665||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||4/10|XM_047442610.1:c.325-242C>T|||||||rs6567665||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||4/10|XM_047442611.1:c.325-242C>T|||||||rs6567665||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||5/9|XM_047442612.1:c.418-242C>T|||||||rs6567665||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2854751C>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||4/8|XM_047442613.1:c.325-242C>T|||||||rs6567665||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2854751C>T|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2854751C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=684117;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|36|1|-2|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78406;gnomADv4_1_AC_joint_XX=55550;gnomADv4_1_AC_joint_XY=22856;gnomADv4_1_AF_grpmax_joint=0.802635;gnomADv4_1_AF_joint=0.711017;gnomADv4_1_AF_joint_XX=0.714635;gnomADv4_1_AF_joint_XY=0.702375;gnomADv4_1_AN_grpmax_joint=3491;gnomADv4_1_AN_joint=110273;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=32541;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19993;gnomADv4_1_nhomalt_joint_XX=19993;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2855480 chrX_2855480_C_T C T 55 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.039;CADD_Rawscore=-0.866761;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||5/8|ENST00000353656.10:c.580+325C>T|||||||rs4892899||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||1/5|ENST00000381157.2:c.35+325C>T|||||||rs4892899||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||4/7|ENST00000381161.5:n.535+325C>T|||||||rs4892899||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||6/11|ENST00000381163.7:c.580+325C>T|||||||rs4892899||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||5/10|ENST00000398806.8:c.487+325C>T|||||||rs4892899||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2855480C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs4892899|1720|-1||HGNC|HGNC:40270|5||||||||Ensembl||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||2/6|ENST00000453106.1:n.258+325C>T|||||||rs4892899||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||3/3|ENST00000469234.6:n.440+325C>T|||||||rs4892899||1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2855480C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs4892899|399|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||5/10|NM_001079855.2:c.487+325C>T|||||||rs4892899||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||5/10|NM_001184702.2:c.487+325C>T|||||||rs4892899||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||6/9|NM_001184703.2:c.580+325C>T|||||||rs4892899||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||4/7|NM_001184704.2:c.22+325C>T|||||||rs4892899||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||6/11|NM_003918.3:c.580+325C>T|||||||rs4892899||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||5/10|XM_011545600.3:c.487+325C>T|||||||rs4892899||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||6/11|XM_017029927.2:c.580+325C>T|||||||rs4892899||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||6/11|XM_017029928.2:c.580+325C>T|||||||rs4892899||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||6/11|XM_017029929.2:c.580+325C>T|||||||rs4892899||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||5/8|XM_017029930.2:c.487+325C>T|||||||rs4892899||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||5/8|XM_017029931.2:c.487+325C>T|||||||rs4892899||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||6/11|XM_047442608.1:c.580+325C>T|||||||rs4892899||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||5/10|XM_047442609.1:c.487+325C>T|||||||rs4892899||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||5/10|XM_047442610.1:c.487+325C>T|||||||rs4892899||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||5/10|XM_047442611.1:c.487+325C>T|||||||rs4892899||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||6/9|XM_047442612.1:c.580+325C>T|||||||rs4892899||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2855480C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||5/8|XM_047442613.1:c.487+325C>T|||||||rs4892899||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2855480C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|16|1|-21|15;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57541;gnomADv4_1_AC_joint_XX=40693;gnomADv4_1_AC_joint_XY=16848;gnomADv4_1_AF_grpmax_joint=0.750182;gnomADv4_1_AF_joint=0.524406;gnomADv4_1_AF_joint_XX=0.523989;gnomADv4_1_AF_joint_XY=0.525416;gnomADv4_1_AN_grpmax_joint=30266;gnomADv4_1_AN_joint=109726;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=32066;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11569;gnomADv4_1_nhomalt_joint_XX=11569;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2855739 chrX_2855739_A_C A C 52 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=5.93;CADD_Rawscore=0.54613;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||5/8|ENST00000353656.10:c.580+584A>C|||||||rs4892900||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||1/5|ENST00000381157.2:c.35+584A>C|||||||rs4892900||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||4/7|ENST00000381161.5:n.535+584A>C|||||||rs4892900||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||6/11|ENST00000381163.7:c.580+584A>C|||||||rs4892900||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||5/10|ENST00000398806.8:c.487+584A>C|||||||rs4892900||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2855739A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs4892900|1979|-1||HGNC|HGNC:40270|5||||||||Ensembl||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||2/6|ENST00000453106.1:n.258+584A>C|||||||rs4892900||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||3/3|ENST00000469234.6:n.440+584A>C|||||||rs4892900||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2855739A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs4892900|658|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||5/10|NM_001079855.2:c.487+584A>C|||||||rs4892900||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||5/10|NM_001184702.2:c.487+584A>C|||||||rs4892900||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||6/9|NM_001184703.2:c.580+584A>C|||||||rs4892900||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||4/7|NM_001184704.2:c.22+584A>C|||||||rs4892900||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||6/11|NM_003918.3:c.580+584A>C|||||||rs4892900||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||5/10|XM_011545600.3:c.487+584A>C|||||||rs4892900||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||6/11|XM_017029927.2:c.580+584A>C|||||||rs4892900||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||6/11|XM_017029928.2:c.580+584A>C|||||||rs4892900||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||6/11|XM_017029929.2:c.580+584A>C|||||||rs4892900||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||5/8|XM_017029930.2:c.487+584A>C|||||||rs4892900||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||5/8|XM_017029931.2:c.487+584A>C|||||||rs4892900||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||6/11|XM_047442608.1:c.580+584A>C|||||||rs4892900||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||5/10|XM_047442609.1:c.487+584A>C|||||||rs4892900||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||5/10|XM_047442610.1:c.487+584A>C|||||||rs4892900||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||5/10|XM_047442611.1:c.487+584A>C|||||||rs4892900||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||6/9|XM_047442612.1:c.580+584A>C|||||||rs4892900||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2855739A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||5/8|XM_047442613.1:c.487+584A>C|||||||rs4892900||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2855739A>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|11|35|-45|-3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55575;gnomADv4_1_AC_joint_XX=39671;gnomADv4_1_AC_joint_XY=15904;gnomADv4_1_AF_grpmax_joint=0.74591;gnomADv4_1_AF_joint=0.507085;gnomADv4_1_AF_joint_XX=0.510579;gnomADv4_1_AF_joint_XY=0.498574;gnomADv4_1_AN_grpmax_joint=30076;gnomADv4_1_AN_joint=109597;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=31899;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11152;gnomADv4_1_nhomalt_joint_XX=11152;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2855902 chrX_2855902_T_G T G 52 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=1.157;CADD_Rawscore=0.020194;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||5/8|ENST00000353656.10:c.581-596T>G|||||||rs5939363||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||1/5|ENST00000381157.2:c.36-596T>G|||||||rs5939363||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||4/7|ENST00000381161.5:n.536-596T>G|||||||rs5939363||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||6/11|ENST00000381163.7:c.581-596T>G|||||||rs5939363||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||5/10|ENST00000398806.8:c.488-596T>G|||||||rs5939363||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2855902T>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5939363|2142|-1||HGNC|HGNC:40270|5||||||||Ensembl||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||2/6|ENST00000453106.1:n.259-596T>G|||||||rs5939363||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||3/3|ENST00000469234.6:n.441-596T>G|||||||rs5939363||1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2855902T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs5939363|821|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||5/10|NM_001079855.2:c.488-596T>G|||||||rs5939363||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||5/10|NM_001184702.2:c.488-596T>G|||||||rs5939363||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||6/9|NM_001184703.2:c.581-596T>G|||||||rs5939363||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||4/7|NM_001184704.2:c.23-596T>G|||||||rs5939363||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||6/11|NM_003918.3:c.581-596T>G|||||||rs5939363||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||5/10|XM_011545600.3:c.488-596T>G|||||||rs5939363||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||6/11|XM_017029927.2:c.581-596T>G|||||||rs5939363||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||6/11|XM_017029928.2:c.581-596T>G|||||||rs5939363||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||6/11|XM_017029929.2:c.581-596T>G|||||||rs5939363||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||5/8|XM_017029930.2:c.488-596T>G|||||||rs5939363||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||5/8|XM_017029931.2:c.488-596T>G|||||||rs5939363||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||6/11|XM_047442608.1:c.581-596T>G|||||||rs5939363||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||5/10|XM_047442609.1:c.488-596T>G|||||||rs5939363||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||5/10|XM_047442610.1:c.488-596T>G|||||||rs5939363||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||5/10|XM_047442611.1:c.488-596T>G|||||||rs5939363||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||6/9|XM_047442612.1:c.581-596T>G|||||||rs5939363||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2855902T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||5/8|XM_047442613.1:c.488-596T>G|||||||rs5939363||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2855902T>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-1|7|-36|7;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=107064;gnomADv4_1_AC_joint_XX=74907;gnomADv4_1_AC_joint_XY=32157;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.963959;gnomADv4_1_AF_joint_XX=0.962567;gnomADv4_1_AF_joint_XY=0.967215;gnomADv4_1_AN_grpmax_joint=3548;gnomADv4_1_AN_joint=111067;gnomADv4_1_AN_joint_XX=77820;gnomADv4_1_AN_joint_XY=33247;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=36162;gnomADv4_1_nhomalt_joint_XX=36162;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2856005 chrX_2856005_A_G A G 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.022;CADD_Rawscore=-1.0297;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||5/8|ENST00000353656.10:c.581-493A>G|||||||rs6420594||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||1/5|ENST00000381157.2:c.36-493A>G|||||||rs6420594||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||4/7|ENST00000381161.5:n.536-493A>G|||||||rs6420594||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||6/11|ENST00000381163.7:c.581-493A>G|||||||rs6420594||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||5/10|ENST00000398806.8:c.488-493A>G|||||||rs6420594||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2856005A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs6420594|2245|-1||HGNC|HGNC:40270|5||||||||Ensembl||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||2/6|ENST00000453106.1:n.259-493A>G|||||||rs6420594||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||3/3|ENST00000469234.6:n.441-493A>G|||||||rs6420594||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2856005A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs6420594|924|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||5/10|NM_001079855.2:c.488-493A>G|||||||rs6420594||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||5/10|NM_001184702.2:c.488-493A>G|||||||rs6420594||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||6/9|NM_001184703.2:c.581-493A>G|||||||rs6420594||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||4/7|NM_001184704.2:c.23-493A>G|||||||rs6420594||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||6/11|NM_003918.3:c.581-493A>G|||||||rs6420594||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||5/10|XM_011545600.3:c.488-493A>G|||||||rs6420594||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||6/11|XM_017029927.2:c.581-493A>G|||||||rs6420594||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||6/11|XM_017029928.2:c.581-493A>G|||||||rs6420594||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||6/11|XM_017029929.2:c.581-493A>G|||||||rs6420594||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||5/8|XM_017029930.2:c.488-493A>G|||||||rs6420594||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||5/8|XM_017029931.2:c.488-493A>G|||||||rs6420594||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||6/11|XM_047442608.1:c.581-493A>G|||||||rs6420594||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||5/10|XM_047442609.1:c.488-493A>G|||||||rs6420594||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||5/10|XM_047442610.1:c.488-493A>G|||||||rs6420594||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||5/10|XM_047442611.1:c.488-493A>G|||||||rs6420594||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||6/9|XM_047442612.1:c.581-493A>G|||||||rs6420594||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2856005A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||5/8|XM_047442613.1:c.488-493A>G|||||||rs6420594||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2856005A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-18|27|-18|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=107038;gnomADv4_1_AC_joint_XX=74997;gnomADv4_1_AC_joint_XY=32041;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.965071;gnomADv4_1_AF_joint_XX=0.963674;gnomADv4_1_AF_joint_XY=0.968357;gnomADv4_1_AN_grpmax_joint=3536;gnomADv4_1_AN_joint=110912;gnomADv4_1_AN_joint_XX=77824;gnomADv4_1_AN_joint_XY=33088;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=36238;gnomADv4_1_nhomalt_joint_XX=36238;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2856437 chrX_2856437_A_G A G 59 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=59;CADD_PHREDscore=0.099;CADD_Rawscore=-0.614494;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||5/8|ENST00000353656.10:c.581-61A>G|||||||rs5939132||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||1/5|ENST00000381157.2:c.36-61A>G|||||||rs5939132||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||4/7|ENST00000381161.5:n.536-61A>G|||||||rs5939132||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||6/11|ENST00000381163.7:c.581-61A>G|||||||rs5939132||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||5/10|ENST00000398806.8:c.488-61A>G|||||||rs5939132||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5939132|2677|-1||HGNC|HGNC:40270|5||||||||Ensembl||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||2/6|ENST00000453106.1:n.259-61A>G|||||||rs5939132||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||3/3|ENST00000469234.6:n.441-61A>G|||||||rs5939132||1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs5939132|1356|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||5/10|NM_001079855.2:c.488-61A>G|||||||rs5939132||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||5/10|NM_001184702.2:c.488-61A>G|||||||rs5939132||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||6/9|NM_001184703.2:c.581-61A>G|||||||rs5939132||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||4/7|NM_001184704.2:c.23-61A>G|||||||rs5939132||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||6/11|NM_003918.3:c.581-61A>G|||||||rs5939132||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||5/10|XM_011545600.3:c.488-61A>G|||||||rs5939132||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||6/11|XM_017029927.2:c.581-61A>G|||||||rs5939132||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||6/11|XM_017029928.2:c.581-61A>G|||||||rs5939132||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||6/11|XM_017029929.2:c.581-61A>G|||||||rs5939132||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||5/8|XM_017029930.2:c.488-61A>G|||||||rs5939132||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||5/8|XM_017029931.2:c.488-61A>G|||||||rs5939132||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||6/11|XM_047442608.1:c.581-61A>G|||||||rs5939132||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||5/10|XM_047442609.1:c.488-61A>G|||||||rs5939132||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||5/10|XM_047442610.1:c.488-61A>G|||||||rs5939132||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||5/10|XM_047442611.1:c.488-61A>G|||||||rs5939132||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||6/9|XM_047442612.1:c.581-61A>G|||||||rs5939132||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2856437A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||5/8|XM_047442613.1:c.488-61A>G|||||||rs5939132||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2856437A>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2856437A>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=1182627;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|49|19|-38|-32;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=1130178;gnomADv4_1_AC_joint_XX=787860;gnomADv4_1_AC_joint_XY=342318;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.993786;gnomADv4_1_AF_joint_XX=0.99329;gnomADv4_1_AF_joint_XY=0.994928;gnomADv4_1_AN_grpmax_joint=32751;gnomADv4_1_AN_joint=1137245;gnomADv4_1_AN_joint_XX=793182;gnomADv4_1_AN_joint_XY=344063;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=391517;gnomADv4_1_nhomalt_joint_XX=391517;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2856659 chrX_2856659_T_G T G 47 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADD_PHREDscore=3.269;CADD_Rawscore=0.299736;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+35T>G|||||||rs5939133||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+35T>G|||||||rs5939133||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+35T>G|||||||rs5939133||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+35T>G|||||||rs5939133||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+35T>G|||||||rs5939133||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5939133|2899|-1||HGNC|HGNC:40270|5||||||||Ensembl||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+35T>G|||||||rs5939133||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs5939133|36|1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs5939133|1578|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+35T>G|||||||rs5939133||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+35T>G|||||||rs5939133||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+35T>G|||||||rs5939133||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+35T>G|||||||rs5939133||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+35T>G|||||||rs5939133||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+35T>G|||||||rs5939133||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+35T>G|||||||rs5939133||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+35T>G|||||||rs5939133||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+35T>G|||||||rs5939133||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+35T>G|||||||rs5939133||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+35T>G|||||||rs5939133||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+35T>G|||||||rs5939133||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+35T>G|||||||rs5939133||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+35T>G|||||||rs5939133||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+35T>G|||||||rs5939133||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+35T>G|||||||rs5939133||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2856659T>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+35T>G|||||||rs5939133||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2856659T>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2856659T>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=1259145;SpliceAI=G|GYG2|0.00|0.00|0.02|0.01|-49|-3|42|-35;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=344797;gnomADv4_1_AC_joint_XX=238204;gnomADv4_1_AC_joint_XY=106593;gnomADv4_1_AF_grpmax_joint=0.434797;gnomADv4_1_AF_joint=0.297562;gnomADv4_1_AF_joint_XX=0.296078;gnomADv4_1_AF_joint_XY=0.300931;gnomADv4_1_AN_grpmax_joint=44101;gnomADv4_1_AN_joint=1158741;gnomADv4_1_AN_joint_XX=804530;gnomADv4_1_AN_joint_XY=354211;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=36275;gnomADv4_1_nhomalt_joint_XX=36275;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2856730 chrX_2856730_T_TATC T TATC 36 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=36;CADDIndel_PHREDscore=0.917;CADDIndel_Rawscore=-0.040211;CSQ=ATC|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+107_707+109dup|||||||rs750584317||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+107_162+109dup|||||||rs750584317||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+107_662+109dup|||||||rs750584317||1||HGNC|HGNC:4700|2||||||||Ensembl||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+107_707+109dup|||||||rs750584317||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+107_614+109dup|||||||rs750584317||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs750584317|2970|-1||HGNC|HGNC:40270|5||||||||Ensembl|||||||chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+107_385+109dup|||||||rs750584317||1||HGNC|HGNC:4700|2||||||||Ensembl||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs750584317|107|1||HGNC|HGNC:4700|3||||||||Ensembl|||||||chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs750584317|1649|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl|||||||chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+107_614+109dup|||||||rs750584317||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+107_614+109dup|||||||rs750584317||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+107_707+109dup|||||||rs750584317||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+107_149+109dup|||||||rs750584317||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+107_707+109dup|||||||rs750584317||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+107_614+109dup|||||||rs750584317||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+107_707+109dup|||||||rs750584317||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+107_707+109dup|||||||rs750584317||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+107_707+109dup|||||||rs750584317||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+107_614+109dup|||||||rs750584317||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+107_614+109dup|||||||rs750584317||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+107_707+109dup|||||||rs750584317||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+107_614+109dup|||||||rs750584317||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+107_614+109dup|||||||rs750584317||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+107_614+109dup|||||||rs750584317||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+107_707+109dup|||||||rs750584317||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||,ATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+107_614+109dup|||||||rs750584317||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||3|chrX:g.2856731_2856733dup|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2856731_2856733dup;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=1177826;TYPE=INDEL;VEP_Allele=ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC,ATC;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=20414;gnomADv4_1_AC_joint_XX=16719;gnomADv4_1_AC_joint_XY=3695;gnomADv4_1_AF_grpmax_joint=0.203269;gnomADv4_1_AF_joint=0.0423734;gnomADv4_1_AF_joint_XX=0.0456317;gnomADv4_1_AF_joint_XY=0.0320263;gnomADv4_1_AN_grpmax_joint=35052;gnomADv4_1_AN_joint=481764;gnomADv4_1_AN_joint_XX=366390;gnomADv4_1_AN_joint_XY=115374;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=986;gnomADv4_1_nhomalt_joint_XX=986;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2856737 chrX_2856737_C_CT C CT 39 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=39;CADDIndel_PHREDscore=0.329;CADDIndel_Rawscore=-0.298273;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+113_707+114insT|||||||rs755581334||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+113_162+114insT|||||||rs755581334||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+113_662+114insT|||||||rs755581334||1||HGNC|HGNC:4700|2||||||||Ensembl|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+113_707+114insT|||||||rs755581334||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+113_614+114insT|||||||rs755581334||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs755581334|2977|-1||HGNC|HGNC:40270|5||||||||Ensembl|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+113_385+114insT|||||||rs755581334||1||HGNC|HGNC:4700|2||||||||Ensembl|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs755581334|114|1||HGNC|HGNC:4700|3||||||||Ensembl|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs755581334|1656|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+113_614+114insT|||||||rs755581334||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+113_614+114insT|||||||rs755581334||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+113_707+114insT|||||||rs755581334||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+113_149+114insT|||||||rs755581334||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+113_707+114insT|||||||rs755581334||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+113_614+114insT|||||||rs755581334||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+113_707+114insT|||||||rs755581334||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+113_707+114insT|||||||rs755581334||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+113_707+114insT|||||||rs755581334||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+113_614+114insT|||||||rs755581334||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+113_614+114insT|||||||rs755581334||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+113_707+114insT|||||||rs755581334||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+113_614+114insT|||||||rs755581334||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+113_614+114insT|||||||rs755581334||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+113_614+114insT|||||||rs755581334||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+113_707+114insT|||||||rs755581334||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq|||||||chrX:g.2856737_2856738insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+113_614+114insT|||||||rs755581334||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq|||||||chrX:g.2856737_2856738insT|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2856737_2856738insT;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=1253367;SpliceAI=CT|GYG2|0.00|0.00|0.00|0.00|-36|14|-32|14;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13163;gnomADv4_1_AC_joint_XX=10217;gnomADv4_1_AC_joint_XY=2946;gnomADv4_1_AF_grpmax_joint=0.209702;gnomADv4_1_AF_joint=0.031541;gnomADv4_1_AF_joint_XX=0.0317389;gnomADv4_1_AF_joint_XY=0.0308734;gnomADv4_1_AN_grpmax_joint=31974;gnomADv4_1_AN_joint=417330;gnomADv4_1_AN_joint_XX=321908;gnomADv4_1_AN_joint_XY=95422;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=704;gnomADv4_1_nhomalt_joint_XX=704;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2856740 chrX_2856740_C_CTATG C CTATG 24 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.666667;AF_XX=0.5;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=24;CADDIndel_PHREDscore=1.095;CADDIndel_Rawscore=0.005806;CSQ=TATG|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+119_707+120insGTAT|||||||rs1569064550||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+119_162+120insGTAT|||||||rs1569064550||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+119_662+120insGTAT|||||||rs1569064550||1||HGNC|HGNC:4700|2||||||||Ensembl||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+119_707+120insGTAT|||||||rs1569064550||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+119_614+120insGTAT|||||||rs1569064550||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs1569064550|2980|-1||HGNC|HGNC:40270|5||||||||Ensembl|||||||chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+119_385+120insGTAT|||||||rs1569064550||1||HGNC|HGNC:4700|2||||||||Ensembl||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs1569064550|117|1||HGNC|HGNC:4700|3||||||||Ensembl|||||||chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs1569064550|1659|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl|||||||chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+119_614+120insGTAT|||||||rs1569064550||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+119_614+120insGTAT|||||||rs1569064550||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+119_707+120insGTAT|||||||rs1569064550||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+119_149+120insGTAT|||||||rs1569064550||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+119_707+120insGTAT|||||||rs1569064550||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+119_614+120insGTAT|||||||rs1569064550||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+119_707+120insGTAT|||||||rs1569064550||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+119_707+120insGTAT|||||||rs1569064550||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+119_707+120insGTAT|||||||rs1569064550||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+119_614+120insGTAT|||||||rs1569064550||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+119_614+120insGTAT|||||||rs1569064550||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+119_707+120insGTAT|||||||rs1569064550||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+119_614+120insGTAT|||||||rs1569064550||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+119_614+120insGTAT|||||||rs1569064550||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+119_614+120insGTAT|||||||rs1569064550||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+119_707+120insGTAT|||||||rs1569064550||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||,TATG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+119_614+120insGTAT|||||||rs1569064550||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||3|chrX:g.2856743_2856744insGTAT|||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2856743_2856744insGTAT;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=1293207;TYPE=INDEL;VEP_Allele=TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG,TATG;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9045;gnomADv4_1_AC_joint_XX=7308;gnomADv4_1_AC_joint_XY=1737;gnomADv4_1_AF_grpmax_joint=0.19317;gnomADv4_1_AF_joint=0.0241319;gnomADv4_1_AF_joint_XX=0.0251402;gnomADv4_1_AF_joint_XY=0.0206478;gnomADv4_1_AN_grpmax_joint=31858;gnomADv4_1_AN_joint=374815;gnomADv4_1_AN_joint_XX=290690;gnomADv4_1_AN_joint_XY=84125;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=540;gnomADv4_1_nhomalt_joint_XX=540;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2856752 chrX_2856752_G_C G C 35 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=35;CADD_PHREDscore=0.101;CADD_Rawscore=-0.609219;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+128G>C|||||||rs4993468||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+128G>C|||||||rs4993468||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+128G>C|||||||rs4993468||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+128G>C|||||||rs4993468||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+128G>C|||||||rs4993468||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs4993468|2992|-1||HGNC|HGNC:40270|5||||||||Ensembl||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+128G>C|||||||rs4993468||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs4993468|129|1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs4993468|1671|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+128G>C|||||||rs4993468||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+128G>C|||||||rs4993468||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+128G>C|||||||rs4993468||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+128G>C|||||||rs4993468||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+128G>C|||||||rs4993468||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+128G>C|||||||rs4993468||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+128G>C|||||||rs4993468||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+128G>C|||||||rs4993468||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+128G>C|||||||rs4993468||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+128G>C|||||||rs4993468||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+128G>C|||||||rs4993468||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+128G>C|||||||rs4993468||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+128G>C|||||||rs4993468||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+128G>C|||||||rs4993468||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+128G>C|||||||rs4993468||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+128G>C|||||||rs4993468||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2856752G>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+128G>C|||||||rs4993468||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2856752G>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2856752G>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=1294377;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-41|-1|-38|-1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40937;gnomADv4_1_AC_joint_XX=29941;gnomADv4_1_AC_joint_XY=10996;gnomADv4_1_AF_grpmax_joint=0.331362;gnomADv4_1_AF_joint=0.252548;gnomADv4_1_AF_joint_XX=0.259526;gnomADv4_1_AF_joint_XY=0.235319;gnomADv4_1_AN_grpmax_joint=86923;gnomADv4_1_AN_joint=162096;gnomADv4_1_AN_joint_XX=115368;gnomADv4_1_AN_joint_XY=46728;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2288;gnomADv4_1_nhomalt_joint_XX=2288;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2856795 chrX_2856795_CT_C CT C 36 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=36;CADDIndel_PHREDscore=0.115;CADDIndel_Rawscore=-0.572885;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+172del|||||||rs5901211||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+172del|||||||rs5901211||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+172del|||||||rs5901211||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+172del|||||||rs5901211||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+172del|||||||rs5901211||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2856796del|benign||1||||||||||,-|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5901211|3036|-1||HGNC|HGNC:40270|5||||||||Ensembl||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+172del|||||||rs5901211||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2856796del|benign||1||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs5901211|173|1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2856796del|benign||1||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs5901211|1715|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+172del|||||||rs5901211||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+172del|||||||rs5901211||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+172del|||||||rs5901211||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+172del|||||||rs5901211||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+172del|||||||rs5901211||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+172del|||||||rs5901211||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+172del|||||||rs5901211||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+172del|||||||rs5901211||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+172del|||||||rs5901211||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+172del|||||||rs5901211||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+172del|||||||rs5901211||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+172del|||||||rs5901211||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+172del|||||||rs5901211||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+172del|||||||rs5901211||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+172del|||||||rs5901211||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+172del|||||||rs5901211||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2856796del|benign||1||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+172del|||||||rs5901211||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2856796del|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2856796del;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=1290666;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|32|36|31|-44;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9568;gnomADv4_1_AC_joint_XX=7580;gnomADv4_1_AC_joint_XY=1988;gnomADv4_1_AF_grpmax_joint=0.389728;gnomADv4_1_AF_joint=0.137576;gnomADv4_1_AF_joint_XX=0.13281;gnomADv4_1_AF_joint_XY=0.159384;gnomADv4_1_AN_grpmax_joint=1986;gnomADv4_1_AN_joint=69547;gnomADv4_1_AN_joint_XX=57074;gnomADv4_1_AN_joint_XY=12473;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=595;gnomADv4_1_nhomalt_joint_XX=595;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2856799 chrX_2856799_C_CT C CT 36 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=36;CADDIndel_PHREDscore=0.519;CADDIndel_Rawscore=-0.183704;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+175_707+176insT|||||||rs5901212||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+175_162+176insT|||||||rs5901212||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+175_662+176insT|||||||rs5901212||1||HGNC|HGNC:4700|2||||||||Ensembl|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+175_707+176insT|||||||rs5901212||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+175_614+176insT|||||||rs5901212||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5901212|3039|-1||HGNC|HGNC:40270|5||||||||Ensembl|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+175_385+176insT|||||||rs5901212||1||HGNC|HGNC:4700|2||||||||Ensembl|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs5901212|176|1||HGNC|HGNC:4700|3||||||||Ensembl|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs5901212|1718|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+175_614+176insT|||||||rs5901212||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+175_614+176insT|||||||rs5901212||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+175_707+176insT|||||||rs5901212||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+175_149+176insT|||||||rs5901212||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+175_707+176insT|||||||rs5901212||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+175_614+176insT|||||||rs5901212||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+175_707+176insT|||||||rs5901212||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+175_707+176insT|||||||rs5901212||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+175_707+176insT|||||||rs5901212||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+175_614+176insT|||||||rs5901212||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+175_614+176insT|||||||rs5901212||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+175_707+176insT|||||||rs5901212||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+175_614+176insT|||||||rs5901212||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+175_614+176insT|||||||rs5901212||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+175_614+176insT|||||||rs5901212||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+175_707+176insT|||||||rs5901212||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq|||||||chrX:g.2856799_2856800insT|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+175_614+176insT|||||||rs5901212||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq|||||||chrX:g.2856799_2856800insT|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2856799_2856800insT;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=1221032;SpliceAI=CT|GYG2|0.00|0.00|0.01|0.00|-48|28|-48|27;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9401;gnomADv4_1_AC_joint_XX=7391;gnomADv4_1_AC_joint_XY=2010;gnomADv4_1_AF_grpmax_joint=0.255045;gnomADv4_1_AF_joint=0.103128;gnomADv4_1_AF_joint_XX=0.104278;gnomADv4_1_AF_joint_XY=0.0991075;gnomADv4_1_AN_grpmax_joint=3023;gnomADv4_1_AN_joint=91159;gnomADv4_1_AN_joint_XX=70878;gnomADv4_1_AN_joint_XY=20281;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=617;gnomADv4_1_nhomalt_joint_XX=617;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2856949 chrX_2856949_G_T G T 53 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=3.026;CADD_Rawscore=0.276971;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+325G>T|||||||rs7473759||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+325G>T|||||||rs7473759||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+325G>T|||||||rs7473759||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+325G>T|||||||rs7473759||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+325G>T|||||||rs7473759||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs7473759|3189|-1||HGNC|HGNC:40270|5||||||||Ensembl||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+325G>T|||||||rs7473759||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs7473759|326|1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs7473759|1868|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+325G>T|||||||rs7473759||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+325G>T|||||||rs7473759||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+325G>T|||||||rs7473759||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+325G>T|||||||rs7473759||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+325G>T|||||||rs7473759||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+325G>T|||||||rs7473759||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+325G>T|||||||rs7473759||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+325G>T|||||||rs7473759||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+325G>T|||||||rs7473759||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+325G>T|||||||rs7473759||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+325G>T|||||||rs7473759||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+325G>T|||||||rs7473759||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+325G>T|||||||rs7473759||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+325G>T|||||||rs7473759||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+325G>T|||||||rs7473759||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+325G>T|||||||rs7473759||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2856949G>T|benign||1||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+325G>T|||||||rs7473759||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2856949G>T|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2856949G>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=669492;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|-2|0|-2|0;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56015;gnomADv4_1_AC_joint_XX=40461;gnomADv4_1_AC_joint_XY=15554;gnomADv4_1_AF_grpmax_joint=0.752416;gnomADv4_1_AF_joint=0.530747;gnomADv4_1_AF_joint_XX=0.524568;gnomADv4_1_AF_joint_XY=0.547522;gnomADv4_1_AN_grpmax_joint=29178;gnomADv4_1_AN_joint=105540;gnomADv4_1_AN_joint_XX=77132;gnomADv4_1_AN_joint_XY=28408;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11471;gnomADv4_1_nhomalt_joint_XX=11471;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2856956 chrX_2856956_CATCTGTTTATCTATCT_C;chrX_2856963_TTATC_T CATCTGTTTATCTATCT C 45 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.666667;AF_XX=0.5;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=45;CADDIndel_PHREDscore=0.548;CADDIndel_Rawscore=-0.170139;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+337_707+352del|||||||rs368803777||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+337_162+352del|||||||rs368803777||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+337_662+352del|||||||rs368803777||1||HGNC|HGNC:4700|2||||||||Ensembl||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+337_707+352del|||||||rs368803777||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+337_614+352del|||||||rs368803777||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs368803777|3197|-1||HGNC|HGNC:40270|5||||||||Ensembl||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT||||chrX:g.2856961_2856976del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+337_385+352del|||||||rs368803777||1||HGNC|HGNC:4700|2||||||||Ensembl||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs368803777|334|1||HGNC|HGNC:4700|3||||||||Ensembl||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT||||chrX:g.2856961_2856976del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs368803777|1876|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT||||chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+337_614+352del|||||||rs368803777||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+337_614+352del|||||||rs368803777||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+337_707+352del|||||||rs368803777||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+337_149+352del|||||||rs368803777||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+337_707+352del|||||||rs368803777||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+337_614+352del|||||||rs368803777||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+337_707+352del|||||||rs368803777||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+337_707+352del|||||||rs368803777||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+337_707+352del|||||||rs368803777||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+337_614+352del|||||||rs368803777||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+337_614+352del|||||||rs368803777||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+337_707+352del|||||||rs368803777||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+337_614+352del|||||||rs368803777||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+337_614+352del|||||||rs368803777||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+337_614+352del|||||||rs368803777||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+337_707+352del|||||||rs368803777||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+337_614+352del|||||||rs368803777||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||ATCTGTTTATCTATCT|ATCTGTTTATCTATCT|||4|chrX:g.2856961_2856976del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21568;gnomADv4_1_AC_joint_XX=15533;gnomADv4_1_AC_joint_XY=6035;gnomADv4_1_AF_grpmax_joint=0.33464;gnomADv4_1_AF_joint=0.21275;gnomADv4_1_AF_joint_XX=0.205305;gnomADv4_1_AF_joint_XY=0.234651;gnomADv4_1_AN_grpmax_joint=9440;gnomADv4_1_AN_joint=101377;gnomADv4_1_AN_joint_XX=75658;gnomADv4_1_AN_joint_XY=25719;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1876;gnomADv4_1_nhomalt_joint_XX=1876;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2856963 chrX_2856956_CATCTGTTTATCTATCT_C;chrX_2856963_TTATC_T TTATC T 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.333333;AF_XX=0.5;AF_XY=0.0;AN=3;AN_XX=2;AN_XY=1;AQ=22;CADDIndel_PHREDscore=0.513;CADDIndel_Rawscore=-0.186606;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+384_707+387del|||||||rs71989016||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+384_162+387del|||||||rs71989016||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+384_662+387del|||||||rs71989016||1||HGNC|HGNC:4700|2||||||||Ensembl||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+384_707+387del|||||||rs71989016||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+384_614+387del|||||||rs71989016||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs71989016|3204|-1||HGNC|HGNC:40270|5||||||||Ensembl||TATC|TATC||||chrX:g.2857008_2857011del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+384_385+387del|||||||rs71989016||1||HGNC|HGNC:4700|2||||||||Ensembl||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs71989016|341|1||HGNC|HGNC:4700|3||||||||Ensembl||TATC|TATC||||chrX:g.2857008_2857011del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs71989016|1883|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||TATC|TATC||||chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+384_614+387del|||||||rs71989016||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+384_614+387del|||||||rs71989016||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+384_707+387del|||||||rs71989016||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+384_149+387del|||||||rs71989016||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+384_707+387del|||||||rs71989016||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+384_614+387del|||||||rs71989016||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+384_707+387del|||||||rs71989016||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+384_707+387del|||||||rs71989016||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+384_707+387del|||||||rs71989016||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+384_614+387del|||||||rs71989016||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+384_614+387del|||||||rs71989016||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+384_707+387del|||||||rs71989016||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+384_614+387del|||||||rs71989016||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+384_614+387del|||||||rs71989016||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+384_614+387del|||||||rs71989016||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+384_707+387del|||||||rs71989016||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+384_614+387del|||||||rs71989016||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||TATC|TATC|||44|chrX:g.2857008_2857011del|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|-1|-14|-47|-50;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=3065;gnomADv4_1_AC_joint_XX=2539;gnomADv4_1_AC_joint_XY=526;gnomADv4_1_AF_grpmax_joint=0.19391;gnomADv4_1_AF_joint=0.0482464;gnomADv4_1_AF_joint_XX=0.0477309;gnomADv4_1_AF_joint_XY=0.0508999;gnomADv4_1_AN_grpmax_joint=10443;gnomADv4_1_AN_joint=63528;gnomADv4_1_AN_joint_XX=53194;gnomADv4_1_AN_joint_XY=10334;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=77;gnomADv4_1_nhomalt_joint_XX=77;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2857170 chrX_2857170_G_A G A 51 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=1.083;CADD_Rawscore=0.002938;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+546G>A|||||||rs58163192||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+546G>A|||||||rs58163192||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+546G>A|||||||rs58163192||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+546G>A|||||||rs58163192||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+546G>A|||||||rs58163192||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2857170G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs58163192|3410|-1||HGNC|HGNC:40270|5||||||||Ensembl||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+546G>A|||||||rs58163192||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2857170G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs58163192|547|1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2857170G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs58163192|2089|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+546G>A|||||||rs58163192||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+546G>A|||||||rs58163192||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+546G>A|||||||rs58163192||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+546G>A|||||||rs58163192||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+546G>A|||||||rs58163192||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+546G>A|||||||rs58163192||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+546G>A|||||||rs58163192||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+546G>A|||||||rs58163192||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+546G>A|||||||rs58163192||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+546G>A|||||||rs58163192||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+546G>A|||||||rs58163192||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+546G>A|||||||rs58163192||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+546G>A|||||||rs58163192||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+546G>A|||||||rs58163192||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+546G>A|||||||rs58163192||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+546G>A|||||||rs58163192||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2857170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+546G>A|||||||rs58163192||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2857170G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|20|-28|-3|41;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41966;gnomADv4_1_AC_joint_XX=30360;gnomADv4_1_AC_joint_XY=11606;gnomADv4_1_AF_grpmax_joint=0.680758;gnomADv4_1_AF_joint=0.453353;gnomADv4_1_AF_joint_XX=0.459137;gnomADv4_1_AF_joint_XY=0.43889;gnomADv4_1_AN_grpmax_joint=27086;gnomADv4_1_AN_joint=92568;gnomADv4_1_AN_joint_XX=66124;gnomADv4_1_AN_joint_XY=26444;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7010;gnomADv4_1_nhomalt_joint_XX=7010;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2857218 chrX_2857218_G_A G A 53 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=0.498;CADD_Rawscore=-0.194234;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+594G>A|||||||rs62643588||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+594G>A|||||||rs62643588||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+594G>A|||||||rs62643588||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+594G>A|||||||rs62643588||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+594G>A|||||||rs62643588||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2857218G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs62643588|3458|-1||HGNC|HGNC:40270|5||||||||Ensembl||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+594G>A|||||||rs62643588||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2857218G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs62643588|595|1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2857218G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs62643588|2137|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+594G>A|||||||rs62643588||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+594G>A|||||||rs62643588||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+594G>A|||||||rs62643588||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+594G>A|||||||rs62643588||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+594G>A|||||||rs62643588||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+594G>A|||||||rs62643588||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+594G>A|||||||rs62643588||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+594G>A|||||||rs62643588||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+594G>A|||||||rs62643588||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+594G>A|||||||rs62643588||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+594G>A|||||||rs62643588||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+594G>A|||||||rs62643588||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+594G>A|||||||rs62643588||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+594G>A|||||||rs62643588||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+594G>A|||||||rs62643588||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+594G>A|||||||rs62643588||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2857218G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+594G>A|||||||rs62643588||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2857218G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-50|47|-7|30;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55463;gnomADv4_1_AC_joint_XX=40130;gnomADv4_1_AC_joint_XY=15333;gnomADv4_1_AF_grpmax_joint=0.740283;gnomADv4_1_AF_joint=0.519234;gnomADv4_1_AF_joint_XX=0.522785;gnomADv4_1_AF_joint_XY=0.510165;gnomADv4_1_AN_grpmax_joint=29586;gnomADv4_1_AN_joint=106817;gnomADv4_1_AN_joint_XX=76762;gnomADv4_1_AN_joint_XY=30055;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11345;gnomADv4_1_nhomalt_joint_XX=11345;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2857289 chrX_2857289_CT_C CT C 49 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADDIndel_PHREDscore=0.294;CADDIndel_Rawscore=-0.326918;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+667del|||||||rs59741043||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+667del|||||||rs59741043||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+667del|||||||rs59741043||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+667del|||||||rs59741043||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+667del|||||||rs59741043||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T|||1|chrX:g.2857291del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs59741043|3530|-1||HGNC|HGNC:40270|5||||||||Ensembl||T|T||||chrX:g.2857291del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+667del|||||||rs59741043||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T|||1|chrX:g.2857291del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs59741043|667|1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2857291del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs59741043|2209|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+667del|||||||rs59741043||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+667del|||||||rs59741043||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+667del|||||||rs59741043||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+667del|||||||rs59741043||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+667del|||||||rs59741043||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+667del|||||||rs59741043||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+667del|||||||rs59741043||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+667del|||||||rs59741043||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+667del|||||||rs59741043||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+667del|||||||rs59741043||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+667del|||||||rs59741043||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+667del|||||||rs59741043||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+667del|||||||rs59741043||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+667del|||||||rs59741043||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+667del|||||||rs59741043||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+667del|||||||rs59741043||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T|||1|chrX:g.2857291del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+667del|||||||rs59741043||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T|||1|chrX:g.2857291del|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-28|-24|-28|-45;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55334;gnomADv4_1_AC_joint_XX=40208;gnomADv4_1_AC_joint_XY=15126;gnomADv4_1_AF_grpmax_joint=0.738826;gnomADv4_1_AF_joint=0.518298;gnomADv4_1_AF_joint_XX=0.522942;gnomADv4_1_AF_joint_XY=0.506344;gnomADv4_1_AN_grpmax_joint=29467;gnomADv4_1_AN_joint=106761;gnomADv4_1_AN_joint_XX=76888;gnomADv4_1_AN_joint_XY=29873;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11361;gnomADv4_1_nhomalt_joint_XX=11361;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2857315 chrX_2857315_C_A C A 51 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=0.726;CADD_Rawscore=-0.099759;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+691C>A|||||||rs9781871||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+691C>A|||||||rs9781871||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+691C>A|||||||rs9781871||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+691C>A|||||||rs9781871||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+691C>A|||||||rs9781871||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2857315C>A|||||||||||||,A|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs9781871|3555|-1||HGNC|HGNC:40270|5||||||||Ensembl||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+691C>A|||||||rs9781871||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2857315C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs9781871|692|1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2857315C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs9781871|2234|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+691C>A|||||||rs9781871||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+691C>A|||||||rs9781871||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+691C>A|||||||rs9781871||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+691C>A|||||||rs9781871||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+691C>A|||||||rs9781871||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+691C>A|||||||rs9781871||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+691C>A|||||||rs9781871||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+691C>A|||||||rs9781871||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+691C>A|||||||rs9781871||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+691C>A|||||||rs9781871||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+691C>A|||||||rs9781871||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+691C>A|||||||rs9781871||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+691C>A|||||||rs9781871||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+691C>A|||||||rs9781871||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+691C>A|||||||rs9781871||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+691C>A|||||||rs9781871||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2857315C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+691C>A|||||||rs9781871||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2857315C>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|13|-5|-41|48;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55985;gnomADv4_1_AC_joint_XX=40345;gnomADv4_1_AC_joint_XY=15640;gnomADv4_1_AF_grpmax_joint=0.74119;gnomADv4_1_AF_joint=0.519877;gnomADv4_1_AF_joint_XX=0.523349;gnomADv4_1_AF_joint_XY=0.511128;gnomADv4_1_AN_grpmax_joint=29825;gnomADv4_1_AN_joint=107689;gnomADv4_1_AN_joint_XX=77090;gnomADv4_1_AN_joint_XY=30599;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11424;gnomADv4_1_nhomalt_joint_XX=11424;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2857406 chrX_2857406_A_ATATC A ATATC 50 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADDIndel_PHREDscore=0.698;CADDIndel_Rawscore=-0.109675;CSQ=TATC|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+786_707+789dup|||||||rs58780972||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+786_162+789dup|||||||rs58780972||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+786_662+789dup|||||||rs58780972||1||HGNC|HGNC:4700|2||||||||Ensembl||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+786_707+789dup|||||||rs58780972||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+786_614+789dup|||||||rs58780972||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs58780972|3646|-1||HGNC|HGNC:40270|5||||||||Ensembl|||||||chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+786_385+789dup|||||||rs58780972||1||HGNC|HGNC:4700|2||||||||Ensembl||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs58780972|783|1||HGNC|HGNC:4700|3||||||||Ensembl|||||||chrX:g.2857410_2857413dup|||||||||||||,TATC|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs58780972|2325|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl|||||||chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+786_614+789dup|||||||rs58780972||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+786_614+789dup|||||||rs58780972||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+786_707+789dup|||||||rs58780972||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+786_149+789dup|||||||rs58780972||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+786_707+789dup|||||||rs58780972||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+786_614+789dup|||||||rs58780972||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+786_707+789dup|||||||rs58780972||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+786_707+789dup|||||||rs58780972||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+786_707+789dup|||||||rs58780972||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+786_614+789dup|||||||rs58780972||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+786_614+789dup|||||||rs58780972||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+786_707+789dup|||||||rs58780972||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+786_614+789dup|||||||rs58780972||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+786_614+789dup|||||||rs58780972||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+786_614+789dup|||||||rs58780972||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+786_707+789dup|||||||rs58780972||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||7|chrX:g.2857410_2857413dup|||||||||||||,TATC|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+786_614+789dup|||||||rs58780972||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||7|chrX:g.2857410_2857413dup|||||||||||||;TYPE=INDEL;VEP_Allele=TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC,TATC;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=104401;gnomADv4_1_AC_joint_XX=74888;gnomADv4_1_AC_joint_XY=29513;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.968389;gnomADv4_1_AF_joint_XX=0.967595;gnomADv4_1_AF_joint_XY=0.970407;gnomADv4_1_AN_grpmax_joint=3286;gnomADv4_1_AN_joint=107809;gnomADv4_1_AN_joint_XX=77396;gnomADv4_1_AN_joint_XY=30413;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=36310;gnomADv4_1_nhomalt_joint_XX=36310;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2857560 chrX_2857560_A_G A G 57 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=57;CADD_PHREDscore=1.473;CADD_Rawscore=0.083387;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+936A>G|||||||rs905375||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+936A>G|||||||rs905375||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+936A>G|||||||rs905375||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+936A>G|||||||rs905375||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+936A>G|||||||rs905375||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2857560A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs905375|3800|-1||HGNC|HGNC:40270|5||||||||Ensembl||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+936A>G|||||||rs905375||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2857560A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs905375|937|1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2857560A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs905375|2479|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+936A>G|||||||rs905375||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+936A>G|||||||rs905375||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+936A>G|||||||rs905375||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+936A>G|||||||rs905375||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+936A>G|||||||rs905375||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+936A>G|||||||rs905375||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+936A>G|||||||rs905375||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+936A>G|||||||rs905375||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+936A>G|||||||rs905375||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+936A>G|||||||rs905375||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+936A>G|||||||rs905375||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+936A>G|||||||rs905375||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+936A>G|||||||rs905375||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+936A>G|||||||rs905375||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+936A>G|||||||rs905375||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+936A>G|||||||rs905375||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2857560A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+936A>G|||||||rs905375||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2857560A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-18|4|-1|-27;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56749;gnomADv4_1_AC_joint_XX=40673;gnomADv4_1_AC_joint_XY=16076;gnomADv4_1_AF_grpmax_joint=0.742823;gnomADv4_1_AF_joint=0.520289;gnomADv4_1_AF_joint_XX=0.52411;gnomADv4_1_AF_joint_XY=0.510868;gnomADv4_1_AN_grpmax_joint=30061;gnomADv4_1_AN_joint=109072;gnomADv4_1_AN_joint_XX=77604;gnomADv4_1_AN_joint_XY=31468;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=11542;gnomADv4_1_nhomalt_joint_XX=11542;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2857650 chrX_2857650_G_C G C 45 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADD_PHREDscore=1.406;CADD_Rawscore=0.07114;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+1026G>C|||||||rs5939369||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+1026G>C|||||||rs5939369||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+1026G>C|||||||rs5939369||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+1026G>C|||||||rs5939369||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+1026G>C|||||||rs5939369||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2857650G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5939369|3890|-1||HGNC|HGNC:40270|5||||||||Ensembl||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+1026G>C|||||||rs5939369||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2857650G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs5939369|1027|1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2857650G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs5939369|2569|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+1026G>C|||||||rs5939369||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+1026G>C|||||||rs5939369||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+1026G>C|||||||rs5939369||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+1026G>C|||||||rs5939369||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+1026G>C|||||||rs5939369||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+1026G>C|||||||rs5939369||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+1026G>C|||||||rs5939369||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+1026G>C|||||||rs5939369||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+1026G>C|||||||rs5939369||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+1026G>C|||||||rs5939369||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+1026G>C|||||||rs5939369||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+1026G>C|||||||rs5939369||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+1026G>C|||||||rs5939369||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+1026G>C|||||||rs5939369||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+1026G>C|||||||rs5939369||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+1026G>C|||||||rs5939369||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2857650G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+1026G>C|||||||rs5939369||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2857650G>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-2|44|27|-1;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48157;gnomADv4_1_AC_joint_XX=34444;gnomADv4_1_AC_joint_XY=13713;gnomADv4_1_AF_grpmax_joint=0.581318;gnomADv4_1_AF_joint=0.4424;gnomADv4_1_AF_joint_XX=0.443992;gnomADv4_1_AF_joint_XY=0.438451;gnomADv4_1_AN_grpmax_joint=52307;gnomADv4_1_AN_joint=108854;gnomADv4_1_AN_joint_XX=77578;gnomADv4_1_AN_joint_XY=31276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9100;gnomADv4_1_nhomalt_joint_XX=9100;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2857835 chrX_2857835_A_G A G 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=37;CADD_PHREDscore=0.903;CADD_Rawscore=-0.044198;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+1211A>G|||||||rs5939370||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+1211A>G|||||||rs5939370||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+1211A>G|||||||rs5939370||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+1211A>G|||||||rs5939370||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+1211A>G|||||||rs5939370||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2857835A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5939370|4075|-1||HGNC|HGNC:40270|5||||||||Ensembl||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+1211A>G|||||||rs5939370||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2857835A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs5939370|1212|1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2857835A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs5939370|2754|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+1211A>G|||||||rs5939370||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+1211A>G|||||||rs5939370||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+1211A>G|||||||rs5939370||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+1211A>G|||||||rs5939370||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+1211A>G|||||||rs5939370||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+1211A>G|||||||rs5939370||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+1211A>G|||||||rs5939370||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+1211A>G|||||||rs5939370||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+1211A>G|||||||rs5939370||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+1211A>G|||||||rs5939370||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+1211A>G|||||||rs5939370||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+1211A>G|||||||rs5939370||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+1211A>G|||||||rs5939370||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+1211A>G|||||||rs5939370||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+1211A>G|||||||rs5939370||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+1211A>G|||||||rs5939370||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2857835A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+1211A>G|||||||rs5939370||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2857835A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-19|13|23|-8;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47924;gnomADv4_1_AC_joint_XX=34346;gnomADv4_1_AC_joint_XY=13578;gnomADv4_1_AF_grpmax_joint=0.591549;gnomADv4_1_AF_joint=0.439021;gnomADv4_1_AF_joint_XX=0.442068;gnomADv4_1_AF_joint_XY=0.4315;gnomADv4_1_AN_grpmax_joint=213;gnomADv4_1_AN_joint=109161;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=31467;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9109;gnomADv4_1_nhomalt_joint_XX=9109;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2857957 chrX_2857957_A_T A T 53 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=2.277;CADD_Rawscore=0.198497;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+1333A>T|||||||rs5939371||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+1333A>T|||||||rs5939371||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+1333A>T|||||||rs5939371||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+1333A>T|||||||rs5939371||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+1333A>T|||||||rs5939371||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2857957A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5939371|4197|-1||HGNC|HGNC:40270|5||||||||Ensembl||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+1333A>T|||||||rs5939371||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2857957A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs5939371|1334|1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2857957A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs5939371|2876|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+1333A>T|||||||rs5939371||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+1333A>T|||||||rs5939371||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+1333A>T|||||||rs5939371||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+1333A>T|||||||rs5939371||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+1333A>T|||||||rs5939371||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+1333A>T|||||||rs5939371||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+1333A>T|||||||rs5939371||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+1333A>T|||||||rs5939371||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+1333A>T|||||||rs5939371||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+1333A>T|||||||rs5939371||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+1333A>T|||||||rs5939371||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+1333A>T|||||||rs5939371||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+1333A>T|||||||rs5939371||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+1333A>T|||||||rs5939371||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+1333A>T|||||||rs5939371||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+1333A>T|||||||rs5939371||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2857957A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+1333A>T|||||||rs5939371||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2857957A>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|-19|-47|-19|-47;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=35793;gnomADv4_1_AC_joint_XX=25302;gnomADv4_1_AC_joint_XY=10491;gnomADv4_1_AF_grpmax_joint=0.416324;gnomADv4_1_AF_joint=0.323702;gnomADv4_1_AF_joint_XX=0.325562;gnomADv4_1_AF_joint_XY=0.319302;gnomADv4_1_AN_grpmax_joint=10218;gnomADv4_1_AN_joint=110574;gnomADv4_1_AN_joint_XX=77718;gnomADv4_1_AN_joint_XY=32856;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=4221;gnomADv4_1_nhomalt_joint_XX=4221;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2858112 chrX_2858112_T_C T C 39 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=39;CADD_PHREDscore=0.051;CADD_Rawscore=-0.795843;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.707+1488T>C|||||||rs5939372||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.162+1488T>C|||||||rs5939372||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.662+1488T>C|||||||rs5939372||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.707+1488T>C|||||||rs5939372||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.614+1488T>C|||||||rs5939372||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2858112T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5939372|4352|-1||HGNC|HGNC:40270|5||||||||Ensembl||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.385+1488T>C|||||||rs5939372||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2858112T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs5939372|1489|1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2858112T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs5939372|3031|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.614+1488T>C|||||||rs5939372||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.614+1488T>C|||||||rs5939372||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.707+1488T>C|||||||rs5939372||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.149+1488T>C|||||||rs5939372||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.707+1488T>C|||||||rs5939372||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.614+1488T>C|||||||rs5939372||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.707+1488T>C|||||||rs5939372||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.707+1488T>C|||||||rs5939372||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.707+1488T>C|||||||rs5939372||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.614+1488T>C|||||||rs5939372||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.614+1488T>C|||||||rs5939372||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.707+1488T>C|||||||rs5939372||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.614+1488T>C|||||||rs5939372||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.614+1488T>C|||||||rs5939372||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.614+1488T>C|||||||rs5939372||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.707+1488T>C|||||||rs5939372||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2858112T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.614+1488T>C|||||||rs5939372||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2858112T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-13|18|-13|18;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48440;gnomADv4_1_AC_joint_XX=34491;gnomADv4_1_AC_joint_XY=13949;gnomADv4_1_AF_grpmax_joint=0.590698;gnomADv4_1_AF_joint=0.440568;gnomADv4_1_AF_joint_XX=0.443934;gnomADv4_1_AF_joint_XY=0.43246;gnomADv4_1_AN_grpmax_joint=215;gnomADv4_1_AN_joint=109949;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=32255;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9122;gnomADv4_1_nhomalt_joint_XX=9122;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2858277 chrX_2858277_AT_A AT A 50 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADDIndel_PHREDscore=0.149;CADDIndel_Rawscore=-0.505481;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.708-1565del|||||||rs56077633||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.163-1565del|||||||rs56077633||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.663-1565del|||||||rs56077633||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.708-1565del|||||||rs56077633||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.615-1565del|||||||rs56077633||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2858278del|||||||||||||,-|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs56077633|4518|-1||HGNC|HGNC:40270|5||||||||Ensembl||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.386-1565del|||||||rs56077633||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2858278del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs56077633|1655|1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2858278del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs56077633|3197|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.615-1565del|||||||rs56077633||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.615-1565del|||||||rs56077633||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.708-1565del|||||||rs56077633||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.150-1565del|||||||rs56077633||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.708-1565del|||||||rs56077633||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.615-1565del|||||||rs56077633||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.708-1565del|||||||rs56077633||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.708-1565del|||||||rs56077633||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.708-1565del|||||||rs56077633||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.615-1565del|||||||rs56077633||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.615-1565del|||||||rs56077633||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.708-1565del|||||||rs56077633||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.615-1565del|||||||rs56077633||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.615-1565del|||||||rs56077633||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.615-1565del|||||||rs56077633||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.708-1565del|||||||rs56077633||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2858278del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.615-1565del|||||||rs56077633||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2858278del|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|3|-47|26|-48;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48178;gnomADv4_1_AC_joint_XX=34232;gnomADv4_1_AC_joint_XY=13946;gnomADv4_1_AF_grpmax_joint=0.591549;gnomADv4_1_AF_joint=0.439284;gnomADv4_1_AF_joint_XX=0.440725;gnomADv4_1_AF_joint_XY=0.435785;gnomADv4_1_AN_grpmax_joint=213;gnomADv4_1_AN_joint=109674;gnomADv4_1_AN_joint_XX=77672;gnomADv4_1_AN_joint_XY=32002;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9063;gnomADv4_1_nhomalt_joint_XX=9063;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2858331 chrX_2858331_T_C T C 52 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=4.783;CADD_Rawscore=0.435731;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.708-1512T>C|||||||rs5939373||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.163-1512T>C|||||||rs5939373||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.663-1512T>C|||||||rs5939373||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.708-1512T>C|||||||rs5939373||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.615-1512T>C|||||||rs5939373||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2858331T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5939373|4571|-1||HGNC|HGNC:40270|5||||||||Ensembl||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.386-1512T>C|||||||rs5939373||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2858331T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs5939373|1708|1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2858331T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs5939373|3250|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.615-1512T>C|||||||rs5939373||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.615-1512T>C|||||||rs5939373||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.708-1512T>C|||||||rs5939373||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.150-1512T>C|||||||rs5939373||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.708-1512T>C|||||||rs5939373||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.615-1512T>C|||||||rs5939373||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.708-1512T>C|||||||rs5939373||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.708-1512T>C|||||||rs5939373||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.708-1512T>C|||||||rs5939373||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.615-1512T>C|||||||rs5939373||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.615-1512T>C|||||||rs5939373||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.708-1512T>C|||||||rs5939373||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.615-1512T>C|||||||rs5939373||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.615-1512T>C|||||||rs5939373||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.615-1512T>C|||||||rs5939373||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.708-1512T>C|||||||rs5939373||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2858331T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.615-1512T>C|||||||rs5939373||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2858331T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-10|16|14|-5;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52506;gnomADv4_1_AC_joint_XX=37552;gnomADv4_1_AC_joint_XY=14954;gnomADv4_1_AF_grpmax_joint=0.606456;gnomADv4_1_AF_joint=0.480191;gnomADv4_1_AF_joint_XX=0.483606;gnomADv4_1_AF_joint_XY=0.471824;gnomADv4_1_AN_grpmax_joint=29989;gnomADv4_1_AN_joint=109344;gnomADv4_1_AN_joint_XX=77650;gnomADv4_1_AN_joint_XY=31694;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9417;gnomADv4_1_nhomalt_joint_XX=9417;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2858645 chrX_2858645_G_T G T 34 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=34;CADD_PHREDscore=0.317;CADD_Rawscore=-0.307607;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.708-1198G>T|||||||rs5982897||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.163-1198G>T|||||||rs5982897||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.663-1198G>T|||||||rs5982897||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.708-1198G>T|||||||rs5982897||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.615-1198G>T|||||||rs5982897||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2858645G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|GYG2-AS1|ENSG00000235483|Transcript|ENST00000445107|lncRNA||||||||||rs5982897|4885|-1||HGNC|HGNC:40270|5||||||||Ensembl||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.386-1198G>T|||||||rs5982897||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2858645G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs5982897|2022|1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2858645G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs5982897|3564|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.615-1198G>T|||||||rs5982897||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.615-1198G>T|||||||rs5982897||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.708-1198G>T|||||||rs5982897||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.150-1198G>T|||||||rs5982897||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.708-1198G>T|||||||rs5982897||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.615-1198G>T|||||||rs5982897||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.708-1198G>T|||||||rs5982897||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.708-1198G>T|||||||rs5982897||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.708-1198G>T|||||||rs5982897||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.615-1198G>T|||||||rs5982897||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.615-1198G>T|||||||rs5982897||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.708-1198G>T|||||||rs5982897||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.615-1198G>T|||||||rs5982897||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.615-1198G>T|||||||rs5982897||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.615-1198G>T|||||||rs5982897||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.708-1198G>T|||||||rs5982897||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2858645G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.615-1198G>T|||||||rs5982897||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2858645G>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|3|1|3|41;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000445107,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000235483,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2-AS1,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54524;gnomADv4_1_AC_joint_XX=38593;gnomADv4_1_AC_joint_XY=15931;gnomADv4_1_AF_grpmax_joint=0.567442;gnomADv4_1_AF_joint=0.493769;gnomADv4_1_AF_joint_XX=0.496347;gnomADv4_1_AF_joint_XY=0.487634;gnomADv4_1_AN_grpmax_joint=215;gnomADv4_1_AN_joint=110424;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=32670;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=9896;gnomADv4_1_nhomalt_joint_XX=9896;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2859066 chrX_2859066_T_G T G 57 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=57;CADD_PHREDscore=0.419;CADD_Rawscore=-0.237204;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.708-777T>G|||||||rs5982898||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.163-777T>G|||||||rs5982898||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.663-777T>G|||||||rs5982898||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.708-777T>G|||||||rs5982898||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.615-777T>G|||||||rs5982898||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.386-777T>G|||||||rs5982898||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2859066T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs5982898|2443|1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2859066T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs5982898|3985|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.615-777T>G|||||||rs5982898||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.615-777T>G|||||||rs5982898||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.708-777T>G|||||||rs5982898||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.150-777T>G|||||||rs5982898||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.708-777T>G|||||||rs5982898||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.615-777T>G|||||||rs5982898||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.708-777T>G|||||||rs5982898||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.708-777T>G|||||||rs5982898||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.708-777T>G|||||||rs5982898||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.615-777T>G|||||||rs5982898||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.615-777T>G|||||||rs5982898||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.708-777T>G|||||||rs5982898||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.615-777T>G|||||||rs5982898||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.615-777T>G|||||||rs5982898||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.615-777T>G|||||||rs5982898||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.708-777T>G|||||||rs5982898||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2859066T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.615-777T>G|||||||rs5982898||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2859066T>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-4|-25|18|-40;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72596;gnomADv4_1_AC_joint_XX=51357;gnomADv4_1_AC_joint_XY=21239;gnomADv4_1_AF_grpmax_joint=0.802339;gnomADv4_1_AF_joint=0.658485;gnomADv4_1_AF_joint_XX=0.660863;gnomADv4_1_AF_joint_XY=0.652805;gnomADv4_1_AN_grpmax_joint=3506;gnomADv4_1_AN_joint=110247;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=32535;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17554;gnomADv4_1_nhomalt_joint_XX=17554;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2859102 chrX_2859102_T_A T A 55 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=4.56;CADD_Rawscore=0.415367;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.708-741T>A|||||||rs1024618238||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.163-741T>A|||||||rs1024618238||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.663-741T>A|||||||rs1024618238||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.708-741T>A|||||||rs1024618238||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.615-741T>A|||||||rs1024618238||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.386-741T>A|||||||rs1024618238||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2859102T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs1024618238|2479|1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2859102T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs1024618238|4021|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.615-741T>A|||||||rs1024618238||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.615-741T>A|||||||rs1024618238||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.708-741T>A|||||||rs1024618238||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.150-741T>A|||||||rs1024618238||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.708-741T>A|||||||rs1024618238||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.615-741T>A|||||||rs1024618238||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.708-741T>A|||||||rs1024618238||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.708-741T>A|||||||rs1024618238||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.708-741T>A|||||||rs1024618238||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.615-741T>A|||||||rs1024618238||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.615-741T>A|||||||rs1024618238||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.708-741T>A|||||||rs1024618238||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.615-741T>A|||||||rs1024618238||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.615-741T>A|||||||rs1024618238||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.615-741T>A|||||||rs1024618238||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.708-741T>A|||||||rs1024618238||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2859102T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.615-741T>A|||||||rs1024618238||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2859102T>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-40|-1|-40|-18;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21;gnomADv4_1_AC_joint_XX=16;gnomADv4_1_AC_joint_XY=5;gnomADv4_1_AF_grpmax_joint=0.000191186;gnomADv4_1_AF_joint=0.000187842;gnomADv4_1_AF_joint_XX=0.000205613;gnomADv4_1_AF_joint_XY=0.000147145;gnomADv4_1_AN_grpmax_joint=10461;gnomADv4_1_AN_joint=111796;gnomADv4_1_AN_joint_XX=77816;gnomADv4_1_AN_joint_XY=33980;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2859273 chrX_2859273_A_G A G 46 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=46;CADD_PHREDscore=3.887;CADD_Rawscore=0.35523;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.708-570A>G|||||||rs2171178||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.163-570A>G|||||||rs2171178||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.663-570A>G|||||||rs2171178||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.708-570A>G|||||||rs2171178||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.615-570A>G|||||||rs2171178||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.386-570A>G|||||||rs2171178||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2859273A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs2171178|2650|1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2859273A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs2171178|4192|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.615-570A>G|||||||rs2171178||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.615-570A>G|||||||rs2171178||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.708-570A>G|||||||rs2171178||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.150-570A>G|||||||rs2171178||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.708-570A>G|||||||rs2171178||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.615-570A>G|||||||rs2171178||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.708-570A>G|||||||rs2171178||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.708-570A>G|||||||rs2171178||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.708-570A>G|||||||rs2171178||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.615-570A>G|||||||rs2171178||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.615-570A>G|||||||rs2171178||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.708-570A>G|||||||rs2171178||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.615-570A>G|||||||rs2171178||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.615-570A>G|||||||rs2171178||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.615-570A>G|||||||rs2171178||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.708-570A>G|||||||rs2171178||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2859273A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.615-570A>G|||||||rs2171178||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2859273A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|19|13|-1|-26;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66248;gnomADv4_1_AC_joint_XX=47513;gnomADv4_1_AC_joint_XY=18735;gnomADv4_1_AF_grpmax_joint=0.797008;gnomADv4_1_AF_joint=0.610254;gnomADv4_1_AF_joint_XX=0.613166;gnomADv4_1_AF_joint_XY=0.602993;gnomADv4_1_AN_grpmax_joint=3409;gnomADv4_1_AN_joint=108558;gnomADv4_1_AN_joint_XX=77488;gnomADv4_1_AN_joint_XY=31070;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15791;gnomADv4_1_nhomalt_joint_XX=15791;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2859279 chrX_2859279_ATAG_A ATAG A 48 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADDIndel_PHREDscore=0.682;CADDIndel_Rawscore=-0.115542;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.708-559_708-557del|||||||rs66823844||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.163-559_163-557del|||||||rs66823844||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.663-559_663-557del|||||||rs66823844||1||HGNC|HGNC:4700|2||||||||Ensembl||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.708-559_708-557del|||||||rs66823844||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.615-559_615-557del|||||||rs66823844||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.386-559_386-557del|||||||rs66823844||1||HGNC|HGNC:4700|2||||||||Ensembl||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs66823844|2657|1||HGNC|HGNC:4700|3||||||||Ensembl||TAG|TAG||||chrX:g.2859284_2859286del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs66823844|4199|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||TAG|TAG||||chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.615-559_615-557del|||||||rs66823844||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.615-559_615-557del|||||||rs66823844||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.708-559_708-557del|||||||rs66823844||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.150-559_150-557del|||||||rs66823844||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.708-559_708-557del|||||||rs66823844||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.615-559_615-557del|||||||rs66823844||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.708-559_708-557del|||||||rs66823844||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.708-559_708-557del|||||||rs66823844||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.708-559_708-557del|||||||rs66823844||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.615-559_615-557del|||||||rs66823844||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.615-559_615-557del|||||||rs66823844||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.708-559_708-557del|||||||rs66823844||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.615-559_615-557del|||||||rs66823844||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.615-559_615-557del|||||||rs66823844||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.615-559_615-557del|||||||rs66823844||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.708-559_708-557del|||||||rs66823844||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.615-559_615-557del|||||||rs66823844||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||TAG|TAG|||4|chrX:g.2859284_2859286del|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|7|4|-32|2;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66254;gnomADv4_1_AC_joint_XX=47500;gnomADv4_1_AC_joint_XY=18754;gnomADv4_1_AF_grpmax_joint=0.796824;gnomADv4_1_AF_joint=0.610062;gnomADv4_1_AF_joint_XX=0.613077;gnomADv4_1_AF_joint_XY=0.602558;gnomADv4_1_AN_grpmax_joint=3401;gnomADv4_1_AN_joint=108602;gnomADv4_1_AN_joint_XX=77478;gnomADv4_1_AN_joint_XY=31124;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15788;gnomADv4_1_nhomalt_joint_XX=15788;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2859314 chrX_2859314_C_T C T 53 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=0.884;CADD_Rawscore=-0.049614;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.708-529C>T|||||||rs2171179||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.163-529C>T|||||||rs2171179||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.663-529C>T|||||||rs2171179||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.708-529C>T|||||||rs2171179||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.615-529C>T|||||||rs2171179||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.386-529C>T|||||||rs2171179||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2859314C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs2171179|2691|1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2859314C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs2171179|4233|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.615-529C>T|||||||rs2171179||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.615-529C>T|||||||rs2171179||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.708-529C>T|||||||rs2171179||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.150-529C>T|||||||rs2171179||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.708-529C>T|||||||rs2171179||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.615-529C>T|||||||rs2171179||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.708-529C>T|||||||rs2171179||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.708-529C>T|||||||rs2171179||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.708-529C>T|||||||rs2171179||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.615-529C>T|||||||rs2171179||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.615-529C>T|||||||rs2171179||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.708-529C>T|||||||rs2171179||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.615-529C>T|||||||rs2171179||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.615-529C>T|||||||rs2171179||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.615-529C>T|||||||rs2171179||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.708-529C>T|||||||rs2171179||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2859314C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.615-529C>T|||||||rs2171179||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2859314C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|27|24|-30|25;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=93512;gnomADv4_1_AC_joint_XX=66787;gnomADv4_1_AC_joint_XY=26725;gnomADv4_1_AF_grpmax_joint=0.972973;gnomADv4_1_AF_joint=0.858641;gnomADv4_1_AF_joint_XX=0.860679;gnomADv4_1_AF_joint_XY=0.853588;gnomADv4_1_AN_grpmax_joint=3441;gnomADv4_1_AN_joint=108907;gnomADv4_1_AN_joint_XX=77598;gnomADv4_1_AN_joint_XY=31309;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=28872;gnomADv4_1_nhomalt_joint_XX=28872;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2859519 chrX_2859519_A_G A G 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=1.704;CADD_Rawscore=0.121687;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||6/8|ENST00000353656.10:c.708-324A>G|||||||rs11152550||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||2/5|ENST00000381157.2:c.163-324A>G|||||||rs11152550||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||5/7|ENST00000381161.5:n.663-324A>G|||||||rs11152550||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||7/11|ENST00000381163.7:c.708-324A>G|||||||rs11152550||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||6/10|ENST00000398806.8:c.615-324A>G|||||||rs11152550||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||3/6|ENST00000453106.1:n.386-324A>G|||||||rs11152550||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs11152550|2896|1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs11152550|4438|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||6/10|NM_001079855.2:c.615-324A>G|||||||rs11152550||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||6/10|NM_001184702.2:c.615-324A>G|||||||rs11152550||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||7/9|NM_001184703.2:c.708-324A>G|||||||rs11152550||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||5/7|NM_001184704.2:c.150-324A>G|||||||rs11152550||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||7/11|NM_003918.3:c.708-324A>G|||||||rs11152550||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||6/10|XM_011545600.3:c.615-324A>G|||||||rs11152550||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||7/11|XM_017029927.2:c.708-324A>G|||||||rs11152550||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||7/11|XM_017029928.2:c.708-324A>G|||||||rs11152550||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||7/11|XM_017029929.2:c.708-324A>G|||||||rs11152550||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||6/8|XM_017029930.2:c.615-324A>G|||||||rs11152550||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||6/8|XM_017029931.2:c.615-324A>G|||||||rs11152550||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||7/11|XM_047442608.1:c.708-324A>G|||||||rs11152550||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||6/10|XM_047442609.1:c.615-324A>G|||||||rs11152550||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||6/10|XM_047442610.1:c.615-324A>G|||||||rs11152550||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||6/10|XM_047442611.1:c.615-324A>G|||||||rs11152550||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||7/9|XM_047442612.1:c.708-324A>G|||||||rs11152550||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2859519A>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||6/8|XM_047442613.1:c.615-324A>G|||||||rs11152550||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2859519A>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2859519A>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=684124;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-12|-44|-14|-9;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=63990;gnomADv4_1_AC_joint_XX=45610;gnomADv4_1_AC_joint_XY=18380;gnomADv4_1_AF_grpmax_joint=0.797274;gnomADv4_1_AF_joint=0.588192;gnomADv4_1_AF_joint_XX=0.590972;gnomADv4_1_AF_joint_XY=0.581406;gnomADv4_1_AN_grpmax_joint=3448;gnomADv4_1_AN_joint=108791;gnomADv4_1_AN_joint_XX=77178;gnomADv4_1_AN_joint_XY=31613;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15246;gnomADv4_1_nhomalt_joint_XX=15246;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2859944 chrX_2859944_C_T C T 51 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;AlphaMissense_class=likely_benign;AlphaMissense_pathogenicity=0.0725;AlphaMissense_protein_variant=A270V;AlphaMissense_transcript_id=ENST00000381163.7;AlphaMissense_uniprot_id=O15488;CADD_PHREDscore=5.525;CADD_Rawscore=0.506;CSQ=T|missense_variant|MODERATE|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding|7/9||ENST00000353656.10:c.809C>T|ENSP00000487294.1:p.Ala270Val|809|809|270|A/V|gCg/gTg|rs2306734||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding|3/6||ENST00000381157.2:c.266C>T|ENSP00000370549.2:p.Ala89Val|264|266|89|A/V|gCg/gTg|rs2306734||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined|6/8||ENST00000381161.5:n.764C>T||764|||||rs2306734||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding|8/12||ENST00000381163.7:c.809C>T|ENSP00000370555.3:p.Ala270Val|1091|809|270|A/V|gCg/gTg|rs2306734||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding|7/11||ENST00000398806.8:c.716C>T|ENSP00000381786.3:p.Ala239Val|890|716|239|A/V|gCg/gTg|rs2306734||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined|4/7||ENST00000453106.1:n.487C>T||487|||||rs2306734||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs2306734|3321|1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000520904|protein_coding||||||||||rs2306734|4863|1|cds_end_NF|HGNC|HGNC:4700|3||ENSP00000430764||E5RIC9.73|UPI0003F48235|||Ensembl||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|8908|Transcript|NM_001079855.2|protein_coding|7/11||NM_001079855.2:c.716C>T|NP_001073324.1:p.Ala239Val|890|716|239|A/V|gCg/gTg|rs2306734||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|8908|Transcript|NM_001184702.2|protein_coding|7/11||NM_001184702.2:c.716C>T|NP_001171631.1:p.Ala239Val|890|716|239|A/V|gCg/gTg|rs2306734||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|8908|Transcript|NM_001184703.2|protein_coding|8/10||NM_001184703.2:c.809C>T|NP_001171632.1:p.Ala270Val|983|809|270|A/V|gCg/gTg|rs2306734||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|8908|Transcript|NM_001184704.2|protein_coding|6/8||NM_001184704.2:c.251C>T|NP_001171633.1:p.Ala84Val|748|251|84|A/V|gCg/gTg|rs2306734||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|8908|Transcript|NM_003918.3|protein_coding|8/12||NM_003918.3:c.809C>T|NP_003909.2:p.Ala270Val|983|809|270|A/V|gCg/gTg|rs2306734||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|8908|Transcript|XM_011545600.3|protein_coding|7/11||XM_011545600.3:c.716C>T|XP_011543902.1:p.Ala239Val|930|716|239|A/V|gCg/gTg|rs2306734||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|8908|Transcript|XM_017029927.2|protein_coding|8/12||XM_017029927.2:c.809C>T|XP_016885416.1:p.Ala270Val|1023|809|270|A/V|gCg/gTg|rs2306734||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|8908|Transcript|XM_017029928.2|protein_coding|8/12||XM_017029928.2:c.809C>T|XP_016885417.1:p.Ala270Val|1094|809|270|A/V|gCg/gTg|rs2306734||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|8908|Transcript|XM_017029929.2|protein_coding|8/12||XM_017029929.2:c.809C>T|XP_016885418.1:p.Ala270Val|983|809|270|A/V|gCg/gTg|rs2306734||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|8908|Transcript|XM_017029930.2|protein_coding|7/9||XM_017029930.2:c.716C>T|XP_016885419.1:p.Ala239Val|890|716|239|A/V|gCg/gTg|rs2306734||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|8908|Transcript|XM_017029931.2|protein_coding|7/9||XM_017029931.2:c.716C>T|XP_016885420.1:p.Ala239Val|930|716|239|A/V|gCg/gTg|rs2306734||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|8908|Transcript|XM_047442608.1|protein_coding|8/12||XM_047442608.1:c.809C>T|XP_047298564.1:p.Ala270Val|1094|809|270|A/V|gCg/gTg|rs2306734||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|8908|Transcript|XM_047442609.1|protein_coding|7/11||XM_047442609.1:c.716C>T|XP_047298565.1:p.Ala239Val|1001|716|239|A/V|gCg/gTg|rs2306734||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|8908|Transcript|XM_047442610.1|protein_coding|7/11||XM_047442610.1:c.716C>T|XP_047298566.1:p.Ala239Val|1001|716|239|A/V|gCg/gTg|rs2306734||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|8908|Transcript|XM_047442611.1|protein_coding|7/11||XM_047442611.1:c.716C>T|XP_047298567.1:p.Ala239Val|930|716|239|A/V|gCg/gTg|rs2306734||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|8908|Transcript|XM_047442612.1|protein_coding|8/10||XM_047442612.1:c.809C>T|XP_047298568.1:p.Ala270Val|1023|809|270|A/V|gCg/gTg|rs2306734||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2859944C>T|benign||1||||||||||,T|missense_variant|MODERATE|GYG2|8908|Transcript|XM_047442613.1|protein_coding|7/9||XM_047442613.1:c.716C>T|XP_047298569.1:p.Ala239Val|1001|716|239|A/V|gCg/gTg|rs2306734||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2859944C>T|benign||1||||||||||;ClinVar_CLNDN=not_specified|not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2859944C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=379982;REVEL_score=0.121;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|7|-28|-42|46;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,ENST00000520904,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=850803;gnomADv4_1_AC_joint_XX=576112;gnomADv4_1_AC_joint_XY=274691;gnomADv4_1_AF_grpmax_joint=0.803976;gnomADv4_1_AF_joint=0.710258;gnomADv4_1_AF_joint_XX=0.71016;gnomADv4_1_AF_joint_XY=0.710462;gnomADv4_1_AN_grpmax_joint=33552;gnomADv4_1_AN_joint=1197879;gnomADv4_1_AN_joint_XX=811242;gnomADv4_1_AN_joint_XY=386637;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=208570;gnomADv4_1_nhomalt_joint_XX=208570;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2860281 chrX_2860281_G_A G A 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=0.023;CADD_Rawscore=-1.02023;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||7/8|ENST00000353656.10:c.930+216G>A|||||||rs5939134||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||3/5|ENST00000381157.2:c.385+216G>A|||||||rs5939134||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||6/7|ENST00000381161.5:n.885+216G>A|||||||rs5939134||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||8/11|ENST00000381163.7:c.930+216G>A|||||||rs5939134||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||7/10|ENST00000398806.8:c.837+216G>A|||||||rs5939134||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||4/6|ENST00000453106.1:n.608+216G>A|||||||rs5939134||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs5939134|3658|1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||7/10|NM_001079855.2:c.837+216G>A|||||||rs5939134||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||7/10|NM_001184702.2:c.837+216G>A|||||||rs5939134||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||8/9|NM_001184703.2:c.930+216G>A|||||||rs5939134||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||6/7|NM_001184704.2:c.372+216G>A|||||||rs5939134||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||8/11|NM_003918.3:c.930+216G>A|||||||rs5939134||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||7/10|XM_011545600.3:c.837+216G>A|||||||rs5939134||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||8/11|XM_017029927.2:c.930+216G>A|||||||rs5939134||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||8/11|XM_017029928.2:c.930+216G>A|||||||rs5939134||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||8/11|XM_017029929.2:c.930+216G>A|||||||rs5939134||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||7/8|XM_017029930.2:c.837+216G>A|||||||rs5939134||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||7/8|XM_017029931.2:c.837+216G>A|||||||rs5939134||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||8/11|XM_047442608.1:c.930+216G>A|||||||rs5939134||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||7/10|XM_047442609.1:c.837+216G>A|||||||rs5939134||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||7/10|XM_047442610.1:c.837+216G>A|||||||rs5939134||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||7/10|XM_047442611.1:c.837+216G>A|||||||rs5939134||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||8/9|XM_047442612.1:c.930+216G>A|||||||rs5939134||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2860281G>A|benign||1||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||7/8|XM_047442613.1:c.837+216G>A|||||||rs5939134||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2860281G>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2860281G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=684126;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-45|4|-3|48;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=67232;gnomADv4_1_AC_joint_XX=47656;gnomADv4_1_AC_joint_XY=19576;gnomADv4_1_AF_grpmax_joint=0.798497;gnomADv4_1_AF_joint=0.611378;gnomADv4_1_AF_joint_XX=0.613002;gnomADv4_1_AF_joint_XY=0.60746;gnomADv4_1_AN_grpmax_joint=3459;gnomADv4_1_AN_joint=109968;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=32226;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15883;gnomADv4_1_nhomalt_joint_XX=15883;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2860392 chrX_2860392_C_G C G 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.043;CADD_Rawscore=-0.839654;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||7/8|ENST00000353656.10:c.930+327C>G|||||||rs2316285||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||3/5|ENST00000381157.2:c.385+327C>G|||||||rs2316285||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||6/7|ENST00000381161.5:n.885+327C>G|||||||rs2316285||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||8/11|ENST00000381163.7:c.930+327C>G|||||||rs2316285||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||7/10|ENST00000398806.8:c.837+327C>G|||||||rs2316285||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||4/6|ENST00000453106.1:n.608+327C>G|||||||rs2316285||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs2316285|3769|1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||7/10|NM_001079855.2:c.837+327C>G|||||||rs2316285||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||7/10|NM_001184702.2:c.837+327C>G|||||||rs2316285||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||8/9|NM_001184703.2:c.930+327C>G|||||||rs2316285||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||6/7|NM_001184704.2:c.372+327C>G|||||||rs2316285||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||8/11|NM_003918.3:c.930+327C>G|||||||rs2316285||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||7/10|XM_011545600.3:c.837+327C>G|||||||rs2316285||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||8/11|XM_017029927.2:c.930+327C>G|||||||rs2316285||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||8/11|XM_017029928.2:c.930+327C>G|||||||rs2316285||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||8/11|XM_017029929.2:c.930+327C>G|||||||rs2316285||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||7/8|XM_017029930.2:c.837+327C>G|||||||rs2316285||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||7/8|XM_017029931.2:c.837+327C>G|||||||rs2316285||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||8/11|XM_047442608.1:c.930+327C>G|||||||rs2316285||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||7/10|XM_047442609.1:c.837+327C>G|||||||rs2316285||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||7/10|XM_047442610.1:c.837+327C>G|||||||rs2316285||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||7/10|XM_047442611.1:c.837+327C>G|||||||rs2316285||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||8/9|XM_047442612.1:c.930+327C>G|||||||rs2316285||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2860392C>G|benign||1||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||7/8|XM_047442613.1:c.837+327C>G|||||||rs2316285||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2860392C>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2860392C>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=684129;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|1|26|43|-24;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66920;gnomADv4_1_AC_joint_XX=47685;gnomADv4_1_AC_joint_XY=19235;gnomADv4_1_AF_grpmax_joint=0.801509;gnomADv4_1_AF_joint=0.611723;gnomADv4_1_AF_joint_XX=0.613754;gnomADv4_1_AF_joint_XY=0.606744;gnomADv4_1_AN_grpmax_joint=3446;gnomADv4_1_AN_joint=109396;gnomADv4_1_AN_joint_XX=77694;gnomADv4_1_AN_joint_XY=31702;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15903;gnomADv4_1_nhomalt_joint_XX=15903;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2860485 chrX_2860485_A_G A G 52 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=1.146;CADD_Rawscore=0.017632;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||7/8|ENST00000353656.10:c.930+420A>G|||||||rs1905995||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||3/5|ENST00000381157.2:c.385+420A>G|||||||rs1905995||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||6/7|ENST00000381161.5:n.885+420A>G|||||||rs1905995||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||8/11|ENST00000381163.7:c.930+420A>G|||||||rs1905995||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||7/10|ENST00000398806.8:c.837+420A>G|||||||rs1905995||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||4/6|ENST00000453106.1:n.608+420A>G|||||||rs1905995||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2860485A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs1905995|3862|1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||7/10|NM_001079855.2:c.837+420A>G|||||||rs1905995||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||7/10|NM_001184702.2:c.837+420A>G|||||||rs1905995||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||8/9|NM_001184703.2:c.930+420A>G|||||||rs1905995||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||6/7|NM_001184704.2:c.372+420A>G|||||||rs1905995||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||8/11|NM_003918.3:c.930+420A>G|||||||rs1905995||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||7/10|XM_011545600.3:c.837+420A>G|||||||rs1905995||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||8/11|XM_017029927.2:c.930+420A>G|||||||rs1905995||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||8/11|XM_017029928.2:c.930+420A>G|||||||rs1905995||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||8/11|XM_017029929.2:c.930+420A>G|||||||rs1905995||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||7/8|XM_017029930.2:c.837+420A>G|||||||rs1905995||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||7/8|XM_017029931.2:c.837+420A>G|||||||rs1905995||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||8/11|XM_047442608.1:c.930+420A>G|||||||rs1905995||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||7/10|XM_047442609.1:c.837+420A>G|||||||rs1905995||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||7/10|XM_047442610.1:c.837+420A>G|||||||rs1905995||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||7/10|XM_047442611.1:c.837+420A>G|||||||rs1905995||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||8/9|XM_047442612.1:c.930+420A>G|||||||rs1905995||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2860485A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||7/8|XM_047442613.1:c.837+420A>G|||||||rs1905995||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2860485A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|1|2|33|-34;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66721;gnomADv4_1_AC_joint_XX=47596;gnomADv4_1_AC_joint_XY=19125;gnomADv4_1_AF_grpmax_joint=0.799059;gnomADv4_1_AF_joint=0.611463;gnomADv4_1_AF_joint_XX=0.613098;gnomADv4_1_AF_joint_XY=0.607432;gnomADv4_1_AN_grpmax_joint=3399;gnomADv4_1_AN_joint=109117;gnomADv4_1_AN_joint_XX=77632;gnomADv4_1_AN_joint_XY=31485;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15847;gnomADv4_1_nhomalt_joint_XX=15847;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2860505 chrX_2860505_C_A C A 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.367;CADD_Rawscore=-0.271125;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||7/8|ENST00000353656.10:c.930+440C>A|||||||rs5939374||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||3/5|ENST00000381157.2:c.385+440C>A|||||||rs5939374||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||6/7|ENST00000381161.5:n.885+440C>A|||||||rs5939374||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||8/11|ENST00000381163.7:c.930+440C>A|||||||rs5939374||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||7/10|ENST00000398806.8:c.837+440C>A|||||||rs5939374||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||4/6|ENST00000453106.1:n.608+440C>A|||||||rs5939374||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2860505C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs5939374|3882|1||HGNC|HGNC:4700|3||||||||Ensembl||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||7/10|NM_001079855.2:c.837+440C>A|||||||rs5939374||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||7/10|NM_001184702.2:c.837+440C>A|||||||rs5939374||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||8/9|NM_001184703.2:c.930+440C>A|||||||rs5939374||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||6/7|NM_001184704.2:c.372+440C>A|||||||rs5939374||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||8/11|NM_003918.3:c.930+440C>A|||||||rs5939374||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||7/10|XM_011545600.3:c.837+440C>A|||||||rs5939374||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||8/11|XM_017029927.2:c.930+440C>A|||||||rs5939374||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||8/11|XM_017029928.2:c.930+440C>A|||||||rs5939374||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||8/11|XM_017029929.2:c.930+440C>A|||||||rs5939374||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||7/8|XM_017029930.2:c.837+440C>A|||||||rs5939374||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||7/8|XM_017029931.2:c.837+440C>A|||||||rs5939374||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||8/11|XM_047442608.1:c.930+440C>A|||||||rs5939374||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||7/10|XM_047442609.1:c.837+440C>A|||||||rs5939374||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||7/10|XM_047442610.1:c.837+440C>A|||||||rs5939374||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||7/10|XM_047442611.1:c.837+440C>A|||||||rs5939374||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||8/9|XM_047442612.1:c.930+440C>A|||||||rs5939374||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2860505C>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||7/8|XM_047442613.1:c.837+440C>A|||||||rs5939374||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2860505C>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-5|-18|1|38;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=67032;gnomADv4_1_AC_joint_XX=47603;gnomADv4_1_AC_joint_XY=19429;gnomADv4_1_AF_grpmax_joint=0.800931;gnomADv4_1_AF_joint=0.613217;gnomADv4_1_AF_joint_XX=0.613393;gnomADv4_1_AF_joint_XY=0.612786;gnomADv4_1_AN_grpmax_joint=3436;gnomADv4_1_AN_joint=109312;gnomADv4_1_AN_joint_XX=77606;gnomADv4_1_AN_joint_XY=31706;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15848;gnomADv4_1_nhomalt_joint_XX=15848;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2860546 chrX_2860546_A_G A G 52 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=3.765;CADD_Rawscore=0.344342;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||7/8|ENST00000353656.10:c.930+481A>G|||||||rs1905996||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||3/5|ENST00000381157.2:c.385+481A>G|||||||rs1905996||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||6/7|ENST00000381161.5:n.885+481A>G|||||||rs1905996||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||8/11|ENST00000381163.7:c.930+481A>G|||||||rs1905996||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||7/10|ENST00000398806.8:c.837+481A>G|||||||rs1905996||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||4/6|ENST00000453106.1:n.608+481A>G|||||||rs1905996||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2860546A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs1905996|3923|1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||7/10|NM_001079855.2:c.837+481A>G|||||||rs1905996||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||7/10|NM_001184702.2:c.837+481A>G|||||||rs1905996||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||8/9|NM_001184703.2:c.930+481A>G|||||||rs1905996||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||6/7|NM_001184704.2:c.372+481A>G|||||||rs1905996||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||8/11|NM_003918.3:c.930+481A>G|||||||rs1905996||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||7/10|XM_011545600.3:c.837+481A>G|||||||rs1905996||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||8/11|XM_017029927.2:c.930+481A>G|||||||rs1905996||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||8/11|XM_017029928.2:c.930+481A>G|||||||rs1905996||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||8/11|XM_017029929.2:c.930+481A>G|||||||rs1905996||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||7/8|XM_017029930.2:c.837+481A>G|||||||rs1905996||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||7/8|XM_017029931.2:c.837+481A>G|||||||rs1905996||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||8/11|XM_047442608.1:c.930+481A>G|||||||rs1905996||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||7/10|XM_047442609.1:c.837+481A>G|||||||rs1905996||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||7/10|XM_047442610.1:c.837+481A>G|||||||rs1905996||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||7/10|XM_047442611.1:c.837+481A>G|||||||rs1905996||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||8/9|XM_047442612.1:c.930+481A>G|||||||rs1905996||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2860546A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||7/8|XM_047442613.1:c.837+481A>G|||||||rs1905996||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2860546A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-21|2|-28|-3;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66595;gnomADv4_1_AC_joint_XX=47695;gnomADv4_1_AC_joint_XY=18900;gnomADv4_1_AF_grpmax_joint=0.804386;gnomADv4_1_AF_joint=0.614101;gnomADv4_1_AF_joint_XX=0.614484;gnomADv4_1_AF_joint_XY=0.613139;gnomADv4_1_AN_grpmax_joint=3420;gnomADv4_1_AN_joint=108443;gnomADv4_1_AN_joint_XX=77618;gnomADv4_1_AN_joint_XY=30825;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15904;gnomADv4_1_nhomalt_joint_XX=15904;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2860643 chrX_2860643_CTT_C CTT C 44 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=0.274;CADDIndel_Rawscore=-0.344983;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||7/8|ENST00000353656.10:c.930+597_930+598del|||||||rs140288633||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||3/5|ENST00000381157.2:c.385+597_385+598del|||||||rs140288633||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||6/7|ENST00000381161.5:n.885+597_885+598del|||||||rs140288633||1||HGNC|HGNC:4700|2||||||||Ensembl||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||8/11|ENST00000381163.7:c.930+597_930+598del|||||||rs140288633||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||7/10|ENST00000398806.8:c.837+597_837+598del|||||||rs140288633||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||4/6|ENST00000453106.1:n.608+597_608+598del|||||||rs140288633||1||HGNC|HGNC:4700|2||||||||Ensembl||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs140288633|4021|1||HGNC|HGNC:4700|3||||||||Ensembl||TT|TT||||chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||7/10|NM_001079855.2:c.837+597_837+598del|||||||rs140288633||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||7/10|NM_001184702.2:c.837+597_837+598del|||||||rs140288633||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||8/9|NM_001184703.2:c.930+597_930+598del|||||||rs140288633||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||6/7|NM_001184704.2:c.372+597_372+598del|||||||rs140288633||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||8/11|NM_003918.3:c.930+597_930+598del|||||||rs140288633||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||7/10|XM_011545600.3:c.837+597_837+598del|||||||rs140288633||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||8/11|XM_017029927.2:c.930+597_930+598del|||||||rs140288633||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||8/11|XM_017029928.2:c.930+597_930+598del|||||||rs140288633||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||8/11|XM_017029929.2:c.930+597_930+598del|||||||rs140288633||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||7/8|XM_017029930.2:c.837+597_837+598del|||||||rs140288633||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||7/8|XM_017029931.2:c.837+597_837+598del|||||||rs140288633||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||8/11|XM_047442608.1:c.930+597_930+598del|||||||rs140288633||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||7/10|XM_047442609.1:c.837+597_837+598del|||||||rs140288633||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||7/10|XM_047442610.1:c.837+597_837+598del|||||||rs140288633||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||7/10|XM_047442611.1:c.837+597_837+598del|||||||rs140288633||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||8/9|XM_047442612.1:c.930+597_930+598del|||||||rs140288633||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||7/8|XM_047442613.1:c.837+597_837+598del|||||||rs140288633||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||TT|TT|||18|chrX:g.2860662_2860663del|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-18|27|-18|-7;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45159;gnomADv4_1_AC_joint_XX=38548;gnomADv4_1_AC_joint_XY=6611;gnomADv4_1_AF_grpmax_joint=0.77505;gnomADv4_1_AF_joint=0.563698;gnomADv4_1_AF_joint_XX=0.575842;gnomADv4_1_AF_joint_XY=0.501974;gnomADv4_1_AN_grpmax_joint=2485;gnomADv4_1_AN_joint=80112;gnomADv4_1_AN_joint_XX=66942;gnomADv4_1_AN_joint_XY=13170;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12167;gnomADv4_1_nhomalt_joint_XX=12167;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2860755 chrX_2860755_A_T A T 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=6.946;CADD_Rawscore=0.652206;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||7/8|ENST00000353656.10:c.930+690A>T|||||||rs5982900||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||3/5|ENST00000381157.2:c.385+690A>T|||||||rs5982900||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||6/7|ENST00000381161.5:n.885+690A>T|||||||rs5982900||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||8/11|ENST00000381163.7:c.930+690A>T|||||||rs5982900||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||7/10|ENST00000398806.8:c.837+690A>T|||||||rs5982900||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||4/6|ENST00000453106.1:n.608+690A>T|||||||rs5982900||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2860755A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs5982900|4132|1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||7/10|NM_001079855.2:c.837+690A>T|||||||rs5982900||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||7/10|NM_001184702.2:c.837+690A>T|||||||rs5982900||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||8/9|NM_001184703.2:c.930+690A>T|||||||rs5982900||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||6/7|NM_001184704.2:c.372+690A>T|||||||rs5982900||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||8/11|NM_003918.3:c.930+690A>T|||||||rs5982900||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||7/10|XM_011545600.3:c.837+690A>T|||||||rs5982900||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||8/11|XM_017029927.2:c.930+690A>T|||||||rs5982900||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||8/11|XM_017029928.2:c.930+690A>T|||||||rs5982900||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||8/11|XM_017029929.2:c.930+690A>T|||||||rs5982900||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||7/8|XM_017029930.2:c.837+690A>T|||||||rs5982900||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||7/8|XM_017029931.2:c.837+690A>T|||||||rs5982900||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||8/11|XM_047442608.1:c.930+690A>T|||||||rs5982900||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||7/10|XM_047442609.1:c.837+690A>T|||||||rs5982900||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||7/10|XM_047442610.1:c.837+690A>T|||||||rs5982900||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||7/10|XM_047442611.1:c.837+690A>T|||||||rs5982900||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||8/9|XM_047442612.1:c.930+690A>T|||||||rs5982900||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2860755A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||7/8|XM_047442613.1:c.837+690A>T|||||||rs5982900||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2860755A>T|||||||||||||;SpliceAI=T|GYG2|0.01|0.00|0.00|0.00|20|2|20|-19;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65302;gnomADv4_1_AC_joint_XX=47486;gnomADv4_1_AC_joint_XY=17816;gnomADv4_1_AF_grpmax_joint=0.800886;gnomADv4_1_AF_joint=0.613769;gnomADv4_1_AF_joint_XX=0.614149;gnomADv4_1_AF_joint_XY=0.61276;gnomADv4_1_AN_grpmax_joint=3385;gnomADv4_1_AN_joint=106395;gnomADv4_1_AN_joint_XX=77320;gnomADv4_1_AN_joint_XY=29075;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15821;gnomADv4_1_nhomalt_joint_XX=15821;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2860791 chrX_2860791_A_G A G 52 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=0.314;CADD_Rawscore=-0.310385;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||7/8|ENST00000353656.10:c.930+726A>G|||||||rs1905997||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||3/5|ENST00000381157.2:c.385+726A>G|||||||rs1905997||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||6/7|ENST00000381161.5:n.885+726A>G|||||||rs1905997||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||8/11|ENST00000381163.7:c.930+726A>G|||||||rs1905997||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||7/10|ENST00000398806.8:c.837+726A>G|||||||rs1905997||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||4/6|ENST00000453106.1:n.608+726A>G|||||||rs1905997||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2860791A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs1905997|4168|1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||7/10|NM_001079855.2:c.837+726A>G|||||||rs1905997||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||7/10|NM_001184702.2:c.837+726A>G|||||||rs1905997||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||8/9|NM_001184703.2:c.930+726A>G|||||||rs1905997||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||6/7|NM_001184704.2:c.372+726A>G|||||||rs1905997||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||8/11|NM_003918.3:c.930+726A>G|||||||rs1905997||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||7/10|XM_011545600.3:c.837+726A>G|||||||rs1905997||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||8/11|XM_017029927.2:c.930+726A>G|||||||rs1905997||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||8/11|XM_017029928.2:c.930+726A>G|||||||rs1905997||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||8/11|XM_017029929.2:c.930+726A>G|||||||rs1905997||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||7/8|XM_017029930.2:c.837+726A>G|||||||rs1905997||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||7/8|XM_017029931.2:c.837+726A>G|||||||rs1905997||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||8/11|XM_047442608.1:c.930+726A>G|||||||rs1905997||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||7/10|XM_047442609.1:c.837+726A>G|||||||rs1905997||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||7/10|XM_047442610.1:c.837+726A>G|||||||rs1905997||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||7/10|XM_047442611.1:c.837+726A>G|||||||rs1905997||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||8/9|XM_047442612.1:c.930+726A>G|||||||rs1905997||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2860791A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||7/8|XM_047442613.1:c.837+726A>G|||||||rs1905997||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2860791A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-16|2|-16|2;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72786;gnomADv4_1_AC_joint_XX=51873;gnomADv4_1_AC_joint_XY=20913;gnomADv4_1_AF_grpmax_joint=0.801833;gnomADv4_1_AF_joint=0.666764;gnomADv4_1_AF_joint_XX=0.667898;gnomADv4_1_AF_joint_XY=0.663968;gnomADv4_1_AN_grpmax_joint=3492;gnomADv4_1_AN_joint=109163;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=31497;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17744;gnomADv4_1_nhomalt_joint_XX=17744;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2860941 chrX_2860941_G_T G T 48 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=3.498;CADD_Rawscore=0.320478;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||7/8|ENST00000353656.10:c.931-581G>T|||||||rs10871869||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||3/5|ENST00000381157.2:c.386-581G>T|||||||rs10871869||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||6/7|ENST00000381161.5:n.886-581G>T|||||||rs10871869||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||8/11|ENST00000381163.7:c.931-581G>T|||||||rs10871869||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||7/10|ENST00000398806.8:c.838-581G>T|||||||rs10871869||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||4/6|ENST00000453106.1:n.609-581G>T|||||||rs10871869||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2860941G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs10871869|4318|1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||7/10|NM_001079855.2:c.838-581G>T|||||||rs10871869||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||7/10|NM_001184702.2:c.838-581G>T|||||||rs10871869||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||8/9|NM_001184703.2:c.931-581G>T|||||||rs10871869||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||6/7|NM_001184704.2:c.373-581G>T|||||||rs10871869||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||8/11|NM_003918.3:c.931-581G>T|||||||rs10871869||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||7/10|XM_011545600.3:c.838-581G>T|||||||rs10871869||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||8/11|XM_017029927.2:c.931-581G>T|||||||rs10871869||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||8/11|XM_017029928.2:c.931-581G>T|||||||rs10871869||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||8/11|XM_017029929.2:c.931-581G>T|||||||rs10871869||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||7/8|XM_017029930.2:c.838-581G>T|||||||rs10871869||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||7/8|XM_017029931.2:c.838-581G>T|||||||rs10871869||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||8/11|XM_047442608.1:c.931-581G>T|||||||rs10871869||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||7/10|XM_047442609.1:c.838-581G>T|||||||rs10871869||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||7/10|XM_047442610.1:c.838-581G>T|||||||rs10871869||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||7/10|XM_047442611.1:c.838-581G>T|||||||rs10871869||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||8/9|XM_047442612.1:c.931-581G>T|||||||rs10871869||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2860941G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||7/8|XM_047442613.1:c.838-581G>T|||||||rs10871869||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2860941G>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|-29|-1|-2|-1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65839;gnomADv4_1_AC_joint_XX=47119;gnomADv4_1_AC_joint_XY=18720;gnomADv4_1_AF_grpmax_joint=0.798349;gnomADv4_1_AF_joint=0.60778;gnomADv4_1_AF_joint_XX=0.608505;gnomADv4_1_AF_joint_XY=0.605963;gnomADv4_1_AN_grpmax_joint=3392;gnomADv4_1_AN_joint=108327;gnomADv4_1_AN_joint_XX=77434;gnomADv4_1_AN_joint_XY=30893;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15650;gnomADv4_1_nhomalt_joint_XX=15650;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2860955 chrX_2860955_T_C T C 50 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=1.772;CADD_Rawscore=0.131949;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||7/8|ENST00000353656.10:c.931-567T>C|||||||rs10871870||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||3/5|ENST00000381157.2:c.386-567T>C|||||||rs10871870||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||6/7|ENST00000381161.5:n.886-567T>C|||||||rs10871870||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||8/11|ENST00000381163.7:c.931-567T>C|||||||rs10871870||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||7/10|ENST00000398806.8:c.838-567T>C|||||||rs10871870||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||4/6|ENST00000453106.1:n.609-567T>C|||||||rs10871870||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2860955T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs10871870|4332|1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||7/10|NM_001079855.2:c.838-567T>C|||||||rs10871870||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||7/10|NM_001184702.2:c.838-567T>C|||||||rs10871870||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||8/9|NM_001184703.2:c.931-567T>C|||||||rs10871870||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||6/7|NM_001184704.2:c.373-567T>C|||||||rs10871870||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||8/11|NM_003918.3:c.931-567T>C|||||||rs10871870||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||7/10|XM_011545600.3:c.838-567T>C|||||||rs10871870||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||8/11|XM_017029927.2:c.931-567T>C|||||||rs10871870||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||8/11|XM_017029928.2:c.931-567T>C|||||||rs10871870||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||8/11|XM_017029929.2:c.931-567T>C|||||||rs10871870||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||7/8|XM_017029930.2:c.838-567T>C|||||||rs10871870||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||7/8|XM_017029931.2:c.838-567T>C|||||||rs10871870||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||8/11|XM_047442608.1:c.931-567T>C|||||||rs10871870||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||7/10|XM_047442609.1:c.838-567T>C|||||||rs10871870||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||7/10|XM_047442610.1:c.838-567T>C|||||||rs10871870||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||7/10|XM_047442611.1:c.838-567T>C|||||||rs10871870||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||8/9|XM_047442612.1:c.931-567T>C|||||||rs10871870||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2860955T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||7/8|XM_047442613.1:c.838-567T>C|||||||rs10871870||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2860955T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-1|-43|-11|-15;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65987;gnomADv4_1_AC_joint_XX=47330;gnomADv4_1_AC_joint_XY=18657;gnomADv4_1_AF_grpmax_joint=0.798703;gnomADv4_1_AF_joint=0.609383;gnomADv4_1_AF_joint_XX=0.611625;gnomADv4_1_AF_joint_XY=0.603767;gnomADv4_1_AN_grpmax_joint=3393;gnomADv4_1_AN_joint=108285;gnomADv4_1_AN_joint_XX=77384;gnomADv4_1_AN_joint_XY=30901;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15728;gnomADv4_1_nhomalt_joint_XX=15728;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2861130 chrX_2861130_G_A G A 60 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=60;CADD_PHREDscore=0.875;CADD_Rawscore=-0.052197;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||7/8|ENST00000353656.10:c.931-392G>A|||||||rs11152551||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||3/5|ENST00000381157.2:c.386-392G>A|||||||rs11152551||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||6/7|ENST00000381161.5:n.886-392G>A|||||||rs11152551||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||8/11|ENST00000381163.7:c.931-392G>A|||||||rs11152551||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||7/10|ENST00000398806.8:c.838-392G>A|||||||rs11152551||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||4/6|ENST00000453106.1:n.609-392G>A|||||||rs11152551||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2861130G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs11152551|4507|1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||7/10|NM_001079855.2:c.838-392G>A|||||||rs11152551||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||7/10|NM_001184702.2:c.838-392G>A|||||||rs11152551||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||8/9|NM_001184703.2:c.931-392G>A|||||||rs11152551||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||6/7|NM_001184704.2:c.373-392G>A|||||||rs11152551||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||8/11|NM_003918.3:c.931-392G>A|||||||rs11152551||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||7/10|XM_011545600.3:c.838-392G>A|||||||rs11152551||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||8/11|XM_017029927.2:c.931-392G>A|||||||rs11152551||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||8/11|XM_017029928.2:c.931-392G>A|||||||rs11152551||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||8/11|XM_017029929.2:c.931-392G>A|||||||rs11152551||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||7/8|XM_017029930.2:c.838-392G>A|||||||rs11152551||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||7/8|XM_017029931.2:c.838-392G>A|||||||rs11152551||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||8/11|XM_047442608.1:c.931-392G>A|||||||rs11152551||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||7/10|XM_047442609.1:c.838-392G>A|||||||rs11152551||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||7/10|XM_047442610.1:c.838-392G>A|||||||rs11152551||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||7/10|XM_047442611.1:c.838-392G>A|||||||rs11152551||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||8/9|XM_047442612.1:c.931-392G>A|||||||rs11152551||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2861130G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||7/8|XM_047442613.1:c.838-392G>A|||||||rs11152551||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2861130G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|28|1|28|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=67162;gnomADv4_1_AC_joint_XX=47600;gnomADv4_1_AC_joint_XY=19562;gnomADv4_1_AF_grpmax_joint=0.805764;gnomADv4_1_AF_joint=0.612798;gnomADv4_1_AF_joint_XX=0.612818;gnomADv4_1_AF_joint_XY=0.612749;gnomADv4_1_AN_grpmax_joint=3470;gnomADv4_1_AN_joint=109599;gnomADv4_1_AN_joint_XX=77674;gnomADv4_1_AN_joint_XY=31925;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15856;gnomADv4_1_nhomalt_joint_XX=15856;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2861170 chrX_2861170_G_A G A 58 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=0.953;CADD_Rawscore=-0.030371;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||7/8|ENST00000353656.10:c.931-352G>A|||||||rs11152552||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||3/5|ENST00000381157.2:c.386-352G>A|||||||rs11152552||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||6/7|ENST00000381161.5:n.886-352G>A|||||||rs11152552||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||8/11|ENST00000381163.7:c.931-352G>A|||||||rs11152552||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||7/10|ENST00000398806.8:c.838-352G>A|||||||rs11152552||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||4/6|ENST00000453106.1:n.609-352G>A|||||||rs11152552||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2861170G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs11152552|4547|1||HGNC|HGNC:4700|3||||||||Ensembl||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||7/10|NM_001079855.2:c.838-352G>A|||||||rs11152552||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||7/10|NM_001184702.2:c.838-352G>A|||||||rs11152552||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||8/9|NM_001184703.2:c.931-352G>A|||||||rs11152552||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||6/7|NM_001184704.2:c.373-352G>A|||||||rs11152552||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||8/11|NM_003918.3:c.931-352G>A|||||||rs11152552||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||7/10|XM_011545600.3:c.838-352G>A|||||||rs11152552||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||8/11|XM_017029927.2:c.931-352G>A|||||||rs11152552||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||8/11|XM_017029928.2:c.931-352G>A|||||||rs11152552||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||8/11|XM_017029929.2:c.931-352G>A|||||||rs11152552||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||7/8|XM_017029930.2:c.838-352G>A|||||||rs11152552||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||7/8|XM_017029931.2:c.838-352G>A|||||||rs11152552||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||8/11|XM_047442608.1:c.931-352G>A|||||||rs11152552||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||7/10|XM_047442609.1:c.838-352G>A|||||||rs11152552||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||7/10|XM_047442610.1:c.838-352G>A|||||||rs11152552||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||7/10|XM_047442611.1:c.838-352G>A|||||||rs11152552||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||8/9|XM_047442612.1:c.931-352G>A|||||||rs11152552||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2861170G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||7/8|XM_047442613.1:c.838-352G>A|||||||rs11152552||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2861170G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-39|-12|-41|39;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=67448;gnomADv4_1_AC_joint_XX=47588;gnomADv4_1_AC_joint_XY=19860;gnomADv4_1_AF_grpmax_joint=0.802402;gnomADv4_1_AF_joint=0.612362;gnomADv4_1_AF_joint_XX=0.612206;gnomADv4_1_AF_joint_XY=0.612736;gnomADv4_1_AN_grpmax_joint=3497;gnomADv4_1_AN_joint=110144;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=32412;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15852;gnomADv4_1_nhomalt_joint_XX=15852;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2861289 chrX_2861289_T_C T C 57 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=57;CADD_PHREDscore=0.787;CADD_Rawscore=-0.079137;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||7/8|ENST00000353656.10:c.931-233T>C|||||||rs10871871||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||3/5|ENST00000381157.2:c.386-233T>C|||||||rs10871871||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||6/7|ENST00000381161.5:n.886-233T>C|||||||rs10871871||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||8/11|ENST00000381163.7:c.931-233T>C|||||||rs10871871||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||7/10|ENST00000398806.8:c.838-233T>C|||||||rs10871871||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||4/6|ENST00000453106.1:n.609-233T>C|||||||rs10871871||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs10871871|4666|1||HGNC|HGNC:4700|3||||||||Ensembl||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||7/10|NM_001079855.2:c.838-233T>C|||||||rs10871871||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||7/10|NM_001184702.2:c.838-233T>C|||||||rs10871871||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||8/9|NM_001184703.2:c.931-233T>C|||||||rs10871871||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||6/7|NM_001184704.2:c.373-233T>C|||||||rs10871871||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||8/11|NM_003918.3:c.931-233T>C|||||||rs10871871||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||7/10|XM_011545600.3:c.838-233T>C|||||||rs10871871||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||8/11|XM_017029927.2:c.931-233T>C|||||||rs10871871||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||8/11|XM_017029928.2:c.931-233T>C|||||||rs10871871||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||8/11|XM_017029929.2:c.931-233T>C|||||||rs10871871||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||7/8|XM_017029930.2:c.838-233T>C|||||||rs10871871||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||7/8|XM_017029931.2:c.838-233T>C|||||||rs10871871||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||8/11|XM_047442608.1:c.931-233T>C|||||||rs10871871||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||7/10|XM_047442609.1:c.838-233T>C|||||||rs10871871||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||7/10|XM_047442610.1:c.838-233T>C|||||||rs10871871||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||7/10|XM_047442611.1:c.838-233T>C|||||||rs10871871||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||8/9|XM_047442612.1:c.931-233T>C|||||||rs10871871||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2861289T>C|benign||1||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||7/8|XM_047442613.1:c.838-233T>C|||||||rs10871871||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2861289T>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2861289T>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=684131;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-10|-12|3|-12;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70281;gnomADv4_1_AC_joint_XX=49815;gnomADv4_1_AC_joint_XY=20466;gnomADv4_1_AF_grpmax_joint=0.791921;gnomADv4_1_AF_joint=0.645307;gnomADv4_1_AF_joint_XX=0.648126;gnomADv4_1_AF_joint_XY=0.638545;gnomADv4_1_AN_grpmax_joint=3441;gnomADv4_1_AN_joint=108911;gnomADv4_1_AN_joint_XX=76860;gnomADv4_1_AN_joint_XY=32051;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16675;gnomADv4_1_nhomalt_joint_XX=16675;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2861529 chrX_2861529_A_G A G 57 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=57;AlphaMissense_class=likely_benign;AlphaMissense_pathogenicity=0.0532;AlphaMissense_protein_variant=H313R;AlphaMissense_transcript_id=ENST00000381163.7;AlphaMissense_uniprot_id=O15488;CADD_PHREDscore=0.012;CADD_Rawscore=-1.21406;CSQ=G|missense_variant|MODERATE|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding|8/9||ENST00000353656.10:c.938A>G|ENSP00000487294.1:p.His313Arg|938|938|313|H/R|cAc/cGc|rs2306735||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding|4/6||ENST00000381157.2:c.395A>G|ENSP00000370549.2:p.His132Arg|393|395|132|H/R|cAc/cGc|rs2306735||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined|7/8||ENST00000381161.5:n.893A>G||893|||||rs2306735||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding|9/12||ENST00000381163.7:c.938A>G|ENSP00000370555.3:p.His313Arg|1220|938|313|H/R|cAc/cGc|rs2306735||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding|8/11||ENST00000398806.8:c.845A>G|ENSP00000381786.3:p.His282Arg|1019|845|282|H/R|cAc/cGc|rs2306735||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined|5/7||ENST00000453106.1:n.616A>G||616|||||rs2306735||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000469234|protein_coding_CDS_not_defined||||||||||rs2306735|4906|1||HGNC|HGNC:4700|3||||||||Ensembl||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|8908|Transcript|NM_001079855.2|protein_coding|8/11||NM_001079855.2:c.845A>G|NP_001073324.1:p.His282Arg|1019|845|282|H/R|cAc/cGc|rs2306735||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|8908|Transcript|NM_001184702.2|protein_coding|8/11||NM_001184702.2:c.845A>G|NP_001171631.1:p.His282Arg|1019|845|282|H/R|cAc/cGc|rs2306735||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|8908|Transcript|NM_001184703.2|protein_coding|9/10||NM_001184703.2:c.938A>G|NP_001171632.1:p.His313Arg|1112|938|313|H/R|cAc/cGc|rs2306735||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|8908|Transcript|NM_001184704.2|protein_coding|7/8||NM_001184704.2:c.380A>G|NP_001171633.1:p.His127Arg|877|380|127|H/R|cAc/cGc|rs2306735||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|8908|Transcript|NM_003918.3|protein_coding|9/12||NM_003918.3:c.938A>G|NP_003909.2:p.His313Arg|1112|938|313|H/R|cAc/cGc|rs2306735||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|8908|Transcript|XM_011545600.3|protein_coding|8/11||XM_011545600.3:c.845A>G|XP_011543902.1:p.His282Arg|1059|845|282|H/R|cAc/cGc|rs2306735||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|8908|Transcript|XM_017029927.2|protein_coding|9/12||XM_017029927.2:c.938A>G|XP_016885416.1:p.His313Arg|1152|938|313|H/R|cAc/cGc|rs2306735||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|8908|Transcript|XM_017029928.2|protein_coding|9/12||XM_017029928.2:c.938A>G|XP_016885417.1:p.His313Arg|1223|938|313|H/R|cAc/cGc|rs2306735||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|8908|Transcript|XM_017029929.2|protein_coding|9/12||XM_017029929.2:c.938A>G|XP_016885418.1:p.His313Arg|1112|938|313|H/R|cAc/cGc|rs2306735||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|8908|Transcript|XM_017029930.2|protein_coding|8/9||XM_017029930.2:c.845A>G|XP_016885419.1:p.His282Arg|1019|845|282|H/R|cAc/cGc|rs2306735||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|8908|Transcript|XM_017029931.2|protein_coding|8/9||XM_017029931.2:c.845A>G|XP_016885420.1:p.His282Arg|1059|845|282|H/R|cAc/cGc|rs2306735||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|8908|Transcript|XM_047442608.1|protein_coding|9/12||XM_047442608.1:c.938A>G|XP_047298564.1:p.His313Arg|1223|938|313|H/R|cAc/cGc|rs2306735||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|8908|Transcript|XM_047442609.1|protein_coding|8/11||XM_047442609.1:c.845A>G|XP_047298565.1:p.His282Arg|1130|845|282|H/R|cAc/cGc|rs2306735||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|8908|Transcript|XM_047442610.1|protein_coding|8/11||XM_047442610.1:c.845A>G|XP_047298566.1:p.His282Arg|1130|845|282|H/R|cAc/cGc|rs2306735||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|8908|Transcript|XM_047442611.1|protein_coding|8/11||XM_047442611.1:c.845A>G|XP_047298567.1:p.His282Arg|1059|845|282|H/R|cAc/cGc|rs2306735||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|8908|Transcript|XM_047442612.1|protein_coding|9/10||XM_047442612.1:c.938A>G|XP_047298568.1:p.His313Arg|1152|938|313|H/R|cAc/cGc|rs2306735||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2861529A>G|benign||1||||||||||,G|missense_variant|MODERATE|GYG2|8908|Transcript|XM_047442613.1|protein_coding|8/9||XM_047442613.1:c.845A>G|XP_047298569.1:p.His282Arg|1130|845|282|H/R|cAc/cGc|rs2306735||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2861529A>G|benign||1||||||||||;ClinVar_CLNDN=not_provided|not_specified;ClinVar_CLNHGVS=NC_000023.11:g.2861529A>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=GYG2:8908;ClinVar_Variation_ID=379983;REVEL_score=0.028;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-7|33|7|-24;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,ENST00000469234,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=825933;gnomADv4_1_AC_joint_XX=559013;gnomADv4_1_AC_joint_XY=266920;gnomADv4_1_AF_grpmax_joint=0.804241;gnomADv4_1_AF_joint=0.688659;gnomADv4_1_AF_joint_XX=0.689938;gnomADv4_1_AF_joint_XY=0.685995;gnomADv4_1_AN_grpmax_joint=33531;gnomADv4_1_AN_joint=1199335;gnomADv4_1_AN_joint_XX=810236;gnomADv4_1_AN_joint_XY=389099;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=196438;gnomADv4_1_nhomalt_joint_XX=196438;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2862078 chrX_2862078_T_TGGAA T TGGAA 49 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADDIndel_PHREDscore=0.091;CADDIndel_Rawscore=-0.635968;CSQ=GGAA|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+358_1131+361dup|||||||rs60830281||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+358_586+361dup|||||||rs60830281||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+358_1086+361dup|||||||rs60830281||1||HGNC|HGNC:4700|2||||||||Ensembl||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+358_1131+361dup|||||||rs60830281||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+358_1038+361dup|||||||rs60830281||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+358_809+361dup|||||||rs60830281||1||HGNC|HGNC:4700|2||||||||Ensembl||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+358_1038+361dup|||||||rs60830281||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+358_1038+361dup|||||||rs60830281||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+358_1131+361dup|||||||rs60830281||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+358_573+361dup|||||||rs60830281||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+358_1131+361dup|||||||rs60830281||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+358_1038+361dup|||||||rs60830281||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+358_1131+361dup|||||||rs60830281||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+358_1131+361dup|||||||rs60830281||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+358_1131+361dup|||||||rs60830281||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+358_1038+361dup|||||||rs60830281||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+358_1038+361dup|||||||rs60830281||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+358_1131+361dup|||||||rs60830281||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+358_1038+361dup|||||||rs60830281||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+358_1038+361dup|||||||rs60830281||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+358_1038+361dup|||||||rs60830281||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+358_1131+361dup|||||||rs60830281||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||5|chrX:g.2862080_2862083dup|||||||||||||,GGAA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+358_1038+361dup|||||||rs60830281||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||5|chrX:g.2862080_2862083dup|||||||||||||;TYPE=INDEL;VEP_Allele=GGAA,GGAA,GGAA,GGAA,GGAA,GGAA,GGAA,GGAA,GGAA,GGAA,GGAA,GGAA,GGAA,GGAA,GGAA,GGAA,GGAA,GGAA,GGAA,GGAA,GGAA,GGAA,GGAA;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64708;gnomADv4_1_AC_joint_XX=46714;gnomADv4_1_AC_joint_XY=17994;gnomADv4_1_AF_grpmax_joint=0.797816;gnomADv4_1_AF_joint=0.60075;gnomADv4_1_AF_joint_XX=0.603743;gnomADv4_1_AF_joint_XY=0.593118;gnomADv4_1_AN_grpmax_joint=3388;gnomADv4_1_AN_joint=107712;gnomADv4_1_AN_joint_XX=77374;gnomADv4_1_AN_joint_XY=30338;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15106;gnomADv4_1_nhomalt_joint_XX=15106;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2862224 chrX_2862224_G_A G A 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=3.135;CADD_Rawscore=0.287286;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+502G>A|||||||rs4892901||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+502G>A|||||||rs4892901||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+502G>A|||||||rs4892901||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+502G>A|||||||rs4892901||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+502G>A|||||||rs4892901||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+502G>A|||||||rs4892901||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+502G>A|||||||rs4892901||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+502G>A|||||||rs4892901||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+502G>A|||||||rs4892901||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+502G>A|||||||rs4892901||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+502G>A|||||||rs4892901||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+502G>A|||||||rs4892901||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+502G>A|||||||rs4892901||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+502G>A|||||||rs4892901||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+502G>A|||||||rs4892901||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+502G>A|||||||rs4892901||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+502G>A|||||||rs4892901||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+502G>A|||||||rs4892901||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+502G>A|||||||rs4892901||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+502G>A|||||||rs4892901||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+502G>A|||||||rs4892901||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+502G>A|||||||rs4892901||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2862224G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+502G>A|||||||rs4892901||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2862224G>A|||||||||||||;SpliceAI=A|GYG2|0.06|0.00|0.00|0.00|24|1|23|0;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58625;gnomADv4_1_AC_joint_XX=41441;gnomADv4_1_AC_joint_XY=17184;gnomADv4_1_AF_grpmax_joint=0.800755;gnomADv4_1_AF_joint=0.533517;gnomADv4_1_AF_joint_XX=0.533346;gnomADv4_1_AF_joint_XY=0.53393;gnomADv4_1_AN_grpmax_joint=3443;gnomADv4_1_AN_joint=109884;gnomADv4_1_AN_joint_XX=77700;gnomADv4_1_AN_joint_XY=32184;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13779;gnomADv4_1_nhomalt_joint_XX=13779;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2862278 chrX_2862278_A_C A C 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=0.519;CADD_Rawscore=-0.183612;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+556A>C|||||||rs4892902||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+556A>C|||||||rs4892902||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+556A>C|||||||rs4892902||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+556A>C|||||||rs4892902||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+556A>C|||||||rs4892902||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+556A>C|||||||rs4892902||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+556A>C|||||||rs4892902||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+556A>C|||||||rs4892902||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+556A>C|||||||rs4892902||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+556A>C|||||||rs4892902||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+556A>C|||||||rs4892902||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+556A>C|||||||rs4892902||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+556A>C|||||||rs4892902||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+556A>C|||||||rs4892902||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+556A>C|||||||rs4892902||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+556A>C|||||||rs4892902||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+556A>C|||||||rs4892902||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+556A>C|||||||rs4892902||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+556A>C|||||||rs4892902||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+556A>C|||||||rs4892902||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+556A>C|||||||rs4892902||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+556A>C|||||||rs4892902||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2862278A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+556A>C|||||||rs4892902||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2862278A>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|35|-30|-31|46;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66321;gnomADv4_1_AC_joint_XX=46926;gnomADv4_1_AC_joint_XY=19395;gnomADv4_1_AF_grpmax_joint=0.802473;gnomADv4_1_AF_joint=0.602349;gnomADv4_1_AF_joint_XX=0.603861;gnomADv4_1_AF_joint_XY=0.598722;gnomADv4_1_AN_grpmax_joint=3478;gnomADv4_1_AN_joint=110104;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=32394;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15195;gnomADv4_1_nhomalt_joint_XX=15195;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2862492 chrX_2862492_C_T C T 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=2.17;CADD_Rawscore=0.185582;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+770C>T|||||||rs5939135||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+770C>T|||||||rs5939135||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+770C>T|||||||rs5939135||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+770C>T|||||||rs5939135||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+770C>T|||||||rs5939135||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+770C>T|||||||rs5939135||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+770C>T|||||||rs5939135||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+770C>T|||||||rs5939135||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+770C>T|||||||rs5939135||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+770C>T|||||||rs5939135||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+770C>T|||||||rs5939135||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+770C>T|||||||rs5939135||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+770C>T|||||||rs5939135||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+770C>T|||||||rs5939135||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+770C>T|||||||rs5939135||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+770C>T|||||||rs5939135||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+770C>T|||||||rs5939135||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+770C>T|||||||rs5939135||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+770C>T|||||||rs5939135||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+770C>T|||||||rs5939135||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+770C>T|||||||rs5939135||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+770C>T|||||||rs5939135||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2862492C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+770C>T|||||||rs5939135||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2862492C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|-31|34|33|-32;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65780;gnomADv4_1_AC_joint_XX=46878;gnomADv4_1_AC_joint_XY=18902;gnomADv4_1_AF_grpmax_joint=0.801458;gnomADv4_1_AF_joint=0.601423;gnomADv4_1_AF_joint_XX=0.603336;gnomADv4_1_AF_joint_XY=0.596729;gnomADv4_1_AN_grpmax_joint=3430;gnomADv4_1_AN_joint=109374;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=31676;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15171;gnomADv4_1_nhomalt_joint_XX=15171;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2862706 chrX_2862706_C_T C T 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.059;CADD_Rawscore=-0.753954;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+984C>T|||||||rs6642045||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+984C>T|||||||rs6642045||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+984C>T|||||||rs6642045||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+984C>T|||||||rs6642045||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+984C>T|||||||rs6642045||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+984C>T|||||||rs6642045||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+984C>T|||||||rs6642045||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+984C>T|||||||rs6642045||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+984C>T|||||||rs6642045||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+984C>T|||||||rs6642045||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+984C>T|||||||rs6642045||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+984C>T|||||||rs6642045||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+984C>T|||||||rs6642045||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+984C>T|||||||rs6642045||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+984C>T|||||||rs6642045||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+984C>T|||||||rs6642045||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+984C>T|||||||rs6642045||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+984C>T|||||||rs6642045||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+984C>T|||||||rs6642045||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+984C>T|||||||rs6642045||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+984C>T|||||||rs6642045||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+984C>T|||||||rs6642045||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2862706C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+984C>T|||||||rs6642045||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2862706C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|14|26|0|26;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66277;gnomADv4_1_AC_joint_XX=46873;gnomADv4_1_AC_joint_XY=19404;gnomADv4_1_AF_grpmax_joint=0.803488;gnomADv4_1_AF_joint=0.602858;gnomADv4_1_AF_joint_XX=0.603272;gnomADv4_1_AF_joint_XY=0.601861;gnomADv4_1_AN_grpmax_joint=3440;gnomADv4_1_AN_joint=109938;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=32240;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15163;gnomADv4_1_nhomalt_joint_XX=15163;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2862785 chrX_2862785_C_T C T 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=1.2;CADD_Rawscore=0.029545;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+1063C>T|||||||rs6642046||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+1063C>T|||||||rs6642046||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+1063C>T|||||||rs6642046||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+1063C>T|||||||rs6642046||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+1063C>T|||||||rs6642046||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+1063C>T|||||||rs6642046||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+1063C>T|||||||rs6642046||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+1063C>T|||||||rs6642046||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+1063C>T|||||||rs6642046||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+1063C>T|||||||rs6642046||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+1063C>T|||||||rs6642046||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+1063C>T|||||||rs6642046||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+1063C>T|||||||rs6642046||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+1063C>T|||||||rs6642046||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+1063C>T|||||||rs6642046||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+1063C>T|||||||rs6642046||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+1063C>T|||||||rs6642046||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+1063C>T|||||||rs6642046||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+1063C>T|||||||rs6642046||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+1063C>T|||||||rs6642046||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+1063C>T|||||||rs6642046||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+1063C>T|||||||rs6642046||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2862785C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+1063C>T|||||||rs6642046||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2862785C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|37|-18|-47|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66096;gnomADv4_1_AC_joint_XX=46805;gnomADv4_1_AC_joint_XY=19291;gnomADv4_1_AF_grpmax_joint=0.803519;gnomADv4_1_AF_joint=0.602488;gnomADv4_1_AF_joint_XX=0.603017;gnomADv4_1_AF_joint_XY=0.601209;gnomADv4_1_AN_grpmax_joint=3410;gnomADv4_1_AN_joint=109705;gnomADv4_1_AN_joint_XX=77618;gnomADv4_1_AN_joint_XY=32087;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15123;gnomADv4_1_nhomalt_joint_XX=15123;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2862788 chrX_2862788_T_A T A 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=3.361;CADD_Rawscore=0.308122;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+1066T>A|||||||rs6642047||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+1066T>A|||||||rs6642047||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+1066T>A|||||||rs6642047||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+1066T>A|||||||rs6642047||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+1066T>A|||||||rs6642047||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+1066T>A|||||||rs6642047||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+1066T>A|||||||rs6642047||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+1066T>A|||||||rs6642047||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+1066T>A|||||||rs6642047||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+1066T>A|||||||rs6642047||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+1066T>A|||||||rs6642047||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+1066T>A|||||||rs6642047||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+1066T>A|||||||rs6642047||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+1066T>A|||||||rs6642047||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+1066T>A|||||||rs6642047||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+1066T>A|||||||rs6642047||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+1066T>A|||||||rs6642047||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+1066T>A|||||||rs6642047||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+1066T>A|||||||rs6642047||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+1066T>A|||||||rs6642047||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+1066T>A|||||||rs6642047||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+1066T>A|||||||rs6642047||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2862788T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+1066T>A|||||||rs6642047||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2862788T>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-21|34|39|-2;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66032;gnomADv4_1_AC_joint_XX=46799;gnomADv4_1_AC_joint_XY=19233;gnomADv4_1_AF_grpmax_joint=0.802817;gnomADv4_1_AF_joint=0.601971;gnomADv4_1_AF_joint_XX=0.6028;gnomADv4_1_AF_joint_XY=0.599963;gnomADv4_1_AN_grpmax_joint=3408;gnomADv4_1_AN_joint=109693;gnomADv4_1_AN_joint_XX=77636;gnomADv4_1_AN_joint_XY=32057;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15119;gnomADv4_1_nhomalt_joint_XX=15119;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2862937 chrX_2862937_G_A G A 40 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=40;CADD_PHREDscore=0.847;CADD_Rawscore=-0.060413;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+1215G>A|||||||rs149865569||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+1215G>A|||||||rs149865569||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+1215G>A|||||||rs149865569||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+1215G>A|||||||rs149865569||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+1215G>A|||||||rs149865569||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+1215G>A|||||||rs149865569||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+1215G>A|||||||rs149865569||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+1215G>A|||||||rs149865569||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+1215G>A|||||||rs149865569||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+1215G>A|||||||rs149865569||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+1215G>A|||||||rs149865569||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+1215G>A|||||||rs149865569||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+1215G>A|||||||rs149865569||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+1215G>A|||||||rs149865569||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+1215G>A|||||||rs149865569||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+1215G>A|||||||rs149865569||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+1215G>A|||||||rs149865569||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+1215G>A|||||||rs149865569||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+1215G>A|||||||rs149865569||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+1215G>A|||||||rs149865569||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+1215G>A|||||||rs149865569||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+1215G>A|||||||rs149865569||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2862937G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+1215G>A|||||||rs149865569||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2862937G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|2|-36|-19|-13;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13284;gnomADv4_1_AC_joint_XX=9482;gnomADv4_1_AC_joint_XY=3802;gnomADv4_1_AF_grpmax_joint=0.172112;gnomADv4_1_AF_joint=0.121842;gnomADv4_1_AF_joint_XX=0.122071;gnomADv4_1_AF_joint_XY=0.121276;gnomADv4_1_AN_grpmax_joint=52187;gnomADv4_1_AN_joint=109026;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=31350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=695;gnomADv4_1_nhomalt_joint_XX=695;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2863080 chrX_2863080_CT_C CT C 51 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADDIndel_PHREDscore=0.375;CADDIndel_Rawscore=-0.265388;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+1370del|||||||rs201819993||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+1370del|||||||rs201819993||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+1370del|||||||rs201819993||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+1370del|||||||rs201819993||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+1370del|||||||rs201819993||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+1370del|||||||rs201819993||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+1370del|||||||rs201819993||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+1370del|||||||rs201819993||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+1370del|||||||rs201819993||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+1370del|||||||rs201819993||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+1370del|||||||rs201819993||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+1370del|||||||rs201819993||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+1370del|||||||rs201819993||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+1370del|||||||rs201819993||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+1370del|||||||rs201819993||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+1370del|||||||rs201819993||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+1370del|||||||rs201819993||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+1370del|||||||rs201819993||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+1370del|||||||rs201819993||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+1370del|||||||rs201819993||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+1370del|||||||rs201819993||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+1370del|||||||rs201819993||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T|||11|chrX:g.2863092del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+1370del|||||||rs201819993||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T|||11|chrX:g.2863092del|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|40|16|39|16;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=55044;gnomADv4_1_AC_joint_XX=44586;gnomADv4_1_AC_joint_XY=10458;gnomADv4_1_AF_grpmax_joint=0.784566;gnomADv4_1_AF_joint=0.585381;gnomADv4_1_AF_joint_XX=0.60587;gnomADv4_1_AF_joint_XY=0.511619;gnomADv4_1_AN_grpmax_joint=2799;gnomADv4_1_AN_joint=94031;gnomADv4_1_AN_joint_XX=73590;gnomADv4_1_AN_joint_XY=20441;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14205;gnomADv4_1_nhomalt_joint_XX=14205;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2863179 chrX_2863179_G_A G A 53 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=1.081;CADD_Rawscore=0.002333;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+1457G>A|||||||rs12391316||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+1457G>A|||||||rs12391316||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+1457G>A|||||||rs12391316||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+1457G>A|||||||rs12391316||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+1457G>A|||||||rs12391316||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+1457G>A|||||||rs12391316||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+1457G>A|||||||rs12391316||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+1457G>A|||||||rs12391316||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+1457G>A|||||||rs12391316||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+1457G>A|||||||rs12391316||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+1457G>A|||||||rs12391316||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+1457G>A|||||||rs12391316||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+1457G>A|||||||rs12391316||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+1457G>A|||||||rs12391316||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+1457G>A|||||||rs12391316||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+1457G>A|||||||rs12391316||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+1457G>A|||||||rs12391316||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+1457G>A|||||||rs12391316||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+1457G>A|||||||rs12391316||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+1457G>A|||||||rs12391316||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+1457G>A|||||||rs12391316||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+1457G>A|||||||rs12391316||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2863179G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+1457G>A|||||||rs12391316||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2863179G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|2|38|-10|38;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64950;gnomADv4_1_AC_joint_XX=46699;gnomADv4_1_AC_joint_XY=18251;gnomADv4_1_AF_grpmax_joint=0.804666;gnomADv4_1_AF_joint=0.602941;gnomADv4_1_AF_joint_XX=0.602506;gnomADv4_1_AF_joint_XY=0.604058;gnomADv4_1_AN_grpmax_joint=3343;gnomADv4_1_AN_joint=107722;gnomADv4_1_AN_joint_XX=77508;gnomADv4_1_AN_joint_XY=30214;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15085;gnomADv4_1_nhomalt_joint_XX=15085;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2863219 chrX_2863219_T_C T C 52 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=1.189;CADD_Rawscore=0.027154;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+1497T>C|||||||rs7057853||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+1497T>C|||||||rs7057853||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+1497T>C|||||||rs7057853||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+1497T>C|||||||rs7057853||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+1497T>C|||||||rs7057853||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+1497T>C|||||||rs7057853||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+1497T>C|||||||rs7057853||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+1497T>C|||||||rs7057853||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+1497T>C|||||||rs7057853||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+1497T>C|||||||rs7057853||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+1497T>C|||||||rs7057853||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+1497T>C|||||||rs7057853||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+1497T>C|||||||rs7057853||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+1497T>C|||||||rs7057853||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+1497T>C|||||||rs7057853||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+1497T>C|||||||rs7057853||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+1497T>C|||||||rs7057853||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+1497T>C|||||||rs7057853||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+1497T>C|||||||rs7057853||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+1497T>C|||||||rs7057853||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+1497T>C|||||||rs7057853||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+1497T>C|||||||rs7057853||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2863219T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+1497T>C|||||||rs7057853||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2863219T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|42|-2|12|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69342;gnomADv4_1_AC_joint_XX=49860;gnomADv4_1_AC_joint_XY=19482;gnomADv4_1_AF_grpmax_joint=0.806607;gnomADv4_1_AF_joint=0.643486;gnomADv4_1_AF_joint_XX=0.64372;gnomADv4_1_AF_joint_XY=0.642885;gnomADv4_1_AN_grpmax_joint=3330;gnomADv4_1_AN_joint=107760;gnomADv4_1_AN_joint_XX=77456;gnomADv4_1_AN_joint_XY=30304;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16472;gnomADv4_1_nhomalt_joint_XX=16472;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2864264 chrX_2864264_A_T A T 57 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=57;CADD_PHREDscore=1.72;CADD_Rawscore=0.124143;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+2542A>T|||||||rs5939376||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+2542A>T|||||||rs5939376||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+2542A>T|||||||rs5939376||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+2542A>T|||||||rs5939376||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+2542A>T|||||||rs5939376||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+2542A>T|||||||rs5939376||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+2542A>T|||||||rs5939376||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+2542A>T|||||||rs5939376||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+2542A>T|||||||rs5939376||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+2542A>T|||||||rs5939376||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+2542A>T|||||||rs5939376||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+2542A>T|||||||rs5939376||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+2542A>T|||||||rs5939376||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+2542A>T|||||||rs5939376||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+2542A>T|||||||rs5939376||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+2542A>T|||||||rs5939376||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+2542A>T|||||||rs5939376||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+2542A>T|||||||rs5939376||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+2542A>T|||||||rs5939376||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+2542A>T|||||||rs5939376||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+2542A>T|||||||rs5939376||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+2542A>T|||||||rs5939376||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2864264A>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+2542A>T|||||||rs5939376||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2864264A>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|6|15|-30|15;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70808;gnomADv4_1_AC_joint_XX=49904;gnomADv4_1_AC_joint_XY=20904;gnomADv4_1_AF_grpmax_joint=0.794513;gnomADv4_1_AF_joint=0.639084;gnomADv4_1_AF_joint_XX=0.641687;gnomADv4_1_AF_joint_XY=0.632956;gnomADv4_1_AN_grpmax_joint=3499;gnomADv4_1_AN_joint=110796;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=33026;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16421;gnomADv4_1_nhomalt_joint_XX=16421;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2864385 chrX_2864385_AT_A AT A 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADDIndel_PHREDscore=0.662;CADDIndel_Rawscore=-0.12297;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+2678del|||||||rs11283991||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+2678del|||||||rs11283991||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+2678del|||||||rs11283991||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+2678del|||||||rs11283991||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+2678del|||||||rs11283991||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+2678del|||||||rs11283991||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+2678del|||||||rs11283991||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+2678del|||||||rs11283991||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+2678del|||||||rs11283991||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+2678del|||||||rs11283991||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+2678del|||||||rs11283991||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+2678del|||||||rs11283991||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+2678del|||||||rs11283991||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+2678del|||||||rs11283991||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+2678del|||||||rs11283991||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+2678del|||||||rs11283991||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+2678del|||||||rs11283991||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+2678del|||||||rs11283991||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+2678del|||||||rs11283991||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+2678del|||||||rs11283991||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+2678del|||||||rs11283991||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+2678del|||||||rs11283991||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T|||14|chrX:g.2864400del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+2678del|||||||rs11283991||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T|||14|chrX:g.2864400del|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|40|18|-30|-6;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65575;gnomADv4_1_AC_joint_XX=50342;gnomADv4_1_AC_joint_XY=15233;gnomADv4_1_AF_grpmax_joint=0.786542;gnomADv4_1_AF_joint=0.657025;gnomADv4_1_AF_joint_XX=0.664721;gnomADv4_1_AF_joint_XY=0.63281;gnomADv4_1_AN_grpmax_joint=3106;gnomADv4_1_AN_joint=99806;gnomADv4_1_AN_joint_XX=75734;gnomADv4_1_AN_joint_XY=24072;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16669;gnomADv4_1_nhomalt_joint_XX=16669;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2864414 chrX_2864414_T_C T C 52 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=1.832;CADD_Rawscore=0.140727;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+2692T>C|||||||rs5939377||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+2692T>C|||||||rs5939377||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+2692T>C|||||||rs5939377||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+2692T>C|||||||rs5939377||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+2692T>C|||||||rs5939377||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+2692T>C|||||||rs5939377||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+2692T>C|||||||rs5939377||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+2692T>C|||||||rs5939377||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+2692T>C|||||||rs5939377||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+2692T>C|||||||rs5939377||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+2692T>C|||||||rs5939377||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+2692T>C|||||||rs5939377||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+2692T>C|||||||rs5939377||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+2692T>C|||||||rs5939377||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+2692T>C|||||||rs5939377||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+2692T>C|||||||rs5939377||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+2692T>C|||||||rs5939377||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+2692T>C|||||||rs5939377||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+2692T>C|||||||rs5939377||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+2692T>C|||||||rs5939377||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+2692T>C|||||||rs5939377||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+2692T>C|||||||rs5939377||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2864414T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+2692T>C|||||||rs5939377||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2864414T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-11|11|37|-42;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88436;gnomADv4_1_AC_joint_XX=64551;gnomADv4_1_AC_joint_XY=23885;gnomADv4_1_AF_grpmax_joint=0.972247;gnomADv4_1_AF_joint=0.831103;gnomADv4_1_AF_joint_XX=0.83451;gnomADv4_1_AF_joint_XY=0.822033;gnomADv4_1_AN_grpmax_joint=3351;gnomADv4_1_AN_joint=106408;gnomADv4_1_AN_joint_XX=77352;gnomADv4_1_AN_joint_XY=29056;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=27054;gnomADv4_1_nhomalt_joint_XX=27054;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2864592 chrX_2864592_G_A G A 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.147;CADD_Rawscore=-0.508471;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+2870G>A|||||||rs5939136||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+2870G>A|||||||rs5939136||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+2870G>A|||||||rs5939136||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+2870G>A|||||||rs5939136||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+2870G>A|||||||rs5939136||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+2870G>A|||||||rs5939136||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+2870G>A|||||||rs5939136||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+2870G>A|||||||rs5939136||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+2870G>A|||||||rs5939136||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+2870G>A|||||||rs5939136||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+2870G>A|||||||rs5939136||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+2870G>A|||||||rs5939136||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+2870G>A|||||||rs5939136||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+2870G>A|||||||rs5939136||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+2870G>A|||||||rs5939136||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+2870G>A|||||||rs5939136||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+2870G>A|||||||rs5939136||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+2870G>A|||||||rs5939136||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+2870G>A|||||||rs5939136||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+2870G>A|||||||rs5939136||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+2870G>A|||||||rs5939136||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+2870G>A|||||||rs5939136||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2864592G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+2870G>A|||||||rs5939136||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2864592G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|28|0|11|27;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61412;gnomADv4_1_AC_joint_XX=43941;gnomADv4_1_AC_joint_XY=17471;gnomADv4_1_AF_grpmax_joint=0.796307;gnomADv4_1_AF_joint=0.564485;gnomADv4_1_AF_joint_XX=0.565769;gnomADv4_1_AF_joint_XY=0.561281;gnomADv4_1_AN_grpmax_joint=3412;gnomADv4_1_AN_joint=108793;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=31127;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14111;gnomADv4_1_nhomalt_joint_XX=14111;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2865066 chrX_2865066_A_G A G 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=1.676;CADD_Rawscore=0.117238;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+3344A>G|||||||rs5939378||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+3344A>G|||||||rs5939378||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+3344A>G|||||||rs5939378||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+3344A>G|||||||rs5939378||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+3344A>G|||||||rs5939378||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+3344A>G|||||||rs5939378||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+3344A>G|||||||rs5939378||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+3344A>G|||||||rs5939378||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+3344A>G|||||||rs5939378||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+3344A>G|||||||rs5939378||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+3344A>G|||||||rs5939378||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+3344A>G|||||||rs5939378||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+3344A>G|||||||rs5939378||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+3344A>G|||||||rs5939378||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+3344A>G|||||||rs5939378||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+3344A>G|||||||rs5939378||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+3344A>G|||||||rs5939378||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+3344A>G|||||||rs5939378||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+3344A>G|||||||rs5939378||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+3344A>G|||||||rs5939378||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+3344A>G|||||||rs5939378||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+3344A>G|||||||rs5939378||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2865066A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+3344A>G|||||||rs5939378||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2865066A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|1|30|-28|-30;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=78064;gnomADv4_1_AC_joint_XX=55234;gnomADv4_1_AC_joint_XY=22830;gnomADv4_1_AF_grpmax_joint=0.796445;gnomADv4_1_AF_joint=0.707281;gnomADv4_1_AF_joint_XX=0.710551;gnomADv4_1_AF_joint_XY=0.699491;gnomADv4_1_AN_grpmax_joint=3488;gnomADv4_1_AN_joint=110372;gnomADv4_1_AN_joint_XX=77734;gnomADv4_1_AN_joint_XY=32638;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19724;gnomADv4_1_nhomalt_joint_XX=19724;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2865514 chrX_2865514_T_G T G 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=4.232;CADD_Rawscore=0.385879;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+3792T>G|||||||rs5939137||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+3792T>G|||||||rs5939137||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+3792T>G|||||||rs5939137||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+3792T>G|||||||rs5939137||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+3792T>G|||||||rs5939137||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+3792T>G|||||||rs5939137||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+3792T>G|||||||rs5939137||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+3792T>G|||||||rs5939137||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+3792T>G|||||||rs5939137||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+3792T>G|||||||rs5939137||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+3792T>G|||||||rs5939137||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+3792T>G|||||||rs5939137||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+3792T>G|||||||rs5939137||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+3792T>G|||||||rs5939137||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+3792T>G|||||||rs5939137||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+3792T>G|||||||rs5939137||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+3792T>G|||||||rs5939137||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+3792T>G|||||||rs5939137||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+3792T>G|||||||rs5939137||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+3792T>G|||||||rs5939137||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+3792T>G|||||||rs5939137||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+3792T>G|||||||rs5939137||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2865514T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+3792T>G|||||||rs5939137||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2865514T>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-38|12|-19|-39;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=76417;gnomADv4_1_AC_joint_XX=54424;gnomADv4_1_AC_joint_XY=21993;gnomADv4_1_AF_grpmax_joint=0.795013;gnomADv4_1_AF_joint=0.696086;gnomADv4_1_AF_joint_XX=0.700203;gnomADv4_1_AF_joint_XY=0.686102;gnomADv4_1_AN_grpmax_joint=3449;gnomADv4_1_AN_joint=109781;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=32055;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19234;gnomADv4_1_nhomalt_joint_XX=19234;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2865735 chrX_2865735_T_C T C 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=1.496;CADD_Rawscore=0.087392;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+4013T>C|||||||rs5939379||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+4013T>C|||||||rs5939379||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+4013T>C|||||||rs5939379||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+4013T>C|||||||rs5939379||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+4013T>C|||||||rs5939379||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+4013T>C|||||||rs5939379||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+4013T>C|||||||rs5939379||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+4013T>C|||||||rs5939379||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+4013T>C|||||||rs5939379||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+4013T>C|||||||rs5939379||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+4013T>C|||||||rs5939379||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+4013T>C|||||||rs5939379||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+4013T>C|||||||rs5939379||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+4013T>C|||||||rs5939379||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+4013T>C|||||||rs5939379||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+4013T>C|||||||rs5939379||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+4013T>C|||||||rs5939379||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+4013T>C|||||||rs5939379||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+4013T>C|||||||rs5939379||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+4013T>C|||||||rs5939379||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+4013T>C|||||||rs5939379||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+4013T>C|||||||rs5939379||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2865735T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+4013T>C|||||||rs5939379||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2865735T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-37|-35|9|-32;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54373;gnomADv4_1_AC_joint_XX=38309;gnomADv4_1_AC_joint_XY=16064;gnomADv4_1_AF_grpmax_joint=0.793503;gnomADv4_1_AF_joint=0.493416;gnomADv4_1_AF_joint_XX=0.492999;gnomADv4_1_AF_joint_XY=0.494414;gnomADv4_1_AN_grpmax_joint=3448;gnomADv4_1_AN_joint=110197;gnomADv4_1_AN_joint_XX=77706;gnomADv4_1_AN_joint_XY=32491;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=11941;gnomADv4_1_nhomalt_joint_XX=11941;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2865874 chrX_2865874_T_TCA T TCA 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADDIndel_PHREDscore=0.956;CADDIndel_Rawscore=-0.029531;CSQ=CA|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+4154_1131+4155dup|||||||rs34040816||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+4154_586+4155dup|||||||rs34040816||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+4154_1086+4155dup|||||||rs34040816||1||HGNC|HGNC:4700|2||||||||Ensembl||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+4154_1131+4155dup|||||||rs34040816||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+4154_1038+4155dup|||||||rs34040816||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+4154_809+4155dup|||||||rs34040816||1||HGNC|HGNC:4700|2||||||||Ensembl||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+4154_1038+4155dup|||||||rs34040816||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+4154_1038+4155dup|||||||rs34040816||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+4154_1131+4155dup|||||||rs34040816||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+4154_573+4155dup|||||||rs34040816||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+4154_1131+4155dup|||||||rs34040816||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+4154_1038+4155dup|||||||rs34040816||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+4154_1131+4155dup|||||||rs34040816||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+4154_1131+4155dup|||||||rs34040816||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+4154_1131+4155dup|||||||rs34040816||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+4154_1038+4155dup|||||||rs34040816||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+4154_1038+4155dup|||||||rs34040816||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+4154_1131+4155dup|||||||rs34040816||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+4154_1038+4155dup|||||||rs34040816||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+4154_1038+4155dup|||||||rs34040816||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+4154_1038+4155dup|||||||rs34040816||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+4154_1131+4155dup|||||||rs34040816||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||3|chrX:g.2865876_2865877dup|||||||||||||,CA|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+4154_1038+4155dup|||||||rs34040816||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||3|chrX:g.2865876_2865877dup|||||||||||||;TYPE=INDEL;VEP_Allele=CA,CA,CA,CA,CA,CA,CA,CA,CA,CA,CA,CA,CA,CA,CA,CA,CA,CA,CA,CA,CA,CA,CA;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73339;gnomADv4_1_AC_joint_XX=52319;gnomADv4_1_AC_joint_XY=21020;gnomADv4_1_AF_grpmax_joint=0.795758;gnomADv4_1_AF_joint=0.669463;gnomADv4_1_AF_joint_XX=0.673693;gnomADv4_1_AF_joint_XY=0.659161;gnomADv4_1_AN_grpmax_joint=3442;gnomADv4_1_AN_joint=109549;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=31889;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17769;gnomADv4_1_nhomalt_joint_XX=17769;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2866010 chrX_2866010_G_A G A 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.4;CADD_Rawscore=-0.248891;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+4288G>A|||||||rs5939380||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+4288G>A|||||||rs5939380||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+4288G>A|||||||rs5939380||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+4288G>A|||||||rs5939380||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+4288G>A|||||||rs5939380||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+4288G>A|||||||rs5939380||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+4288G>A|||||||rs5939380||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+4288G>A|||||||rs5939380||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+4288G>A|||||||rs5939380||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+4288G>A|||||||rs5939380||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+4288G>A|||||||rs5939380||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+4288G>A|||||||rs5939380||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+4288G>A|||||||rs5939380||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+4288G>A|||||||rs5939380||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+4288G>A|||||||rs5939380||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+4288G>A|||||||rs5939380||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+4288G>A|||||||rs5939380||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+4288G>A|||||||rs5939380||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+4288G>A|||||||rs5939380||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+4288G>A|||||||rs5939380||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+4288G>A|||||||rs5939380||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+4288G>A|||||||rs5939380||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2866010G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+4288G>A|||||||rs5939380||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2866010G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-44|-9|15|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74096;gnomADv4_1_AC_joint_XX=52335;gnomADv4_1_AC_joint_XY=21761;gnomADv4_1_AF_grpmax_joint=0.797421;gnomADv4_1_AF_joint=0.670728;gnomADv4_1_AF_joint_XX=0.673119;gnomADv4_1_AF_joint_XY=0.665047;gnomADv4_1_AN_grpmax_joint=3490;gnomADv4_1_AN_joint=110471;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=32721;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17759;gnomADv4_1_nhomalt_joint_XX=17759;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2866836 chrX_2866836_TTA_T TTA T 47 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADDIndel_PHREDscore=0.517;CADDIndel_Rawscore=-0.184662;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+5115_1131+5116del|||||||rs61155915||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+5115_586+5116del|||||||rs61155915||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+5115_1086+5116del|||||||rs61155915||1||HGNC|HGNC:4700|2||||||||Ensembl||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+5115_1131+5116del|||||||rs61155915||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+5115_1038+5116del|||||||rs61155915||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+5115_809+5116del|||||||rs61155915||1||HGNC|HGNC:4700|2||||||||Ensembl||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+5115_1038+5116del|||||||rs61155915||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+5115_1038+5116del|||||||rs61155915||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+5115_1131+5116del|||||||rs61155915||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+5115_573+5116del|||||||rs61155915||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+5115_1131+5116del|||||||rs61155915||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+5115_1038+5116del|||||||rs61155915||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+5115_1131+5116del|||||||rs61155915||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+5115_1131+5116del|||||||rs61155915||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+5115_1131+5116del|||||||rs61155915||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+5115_1038+5116del|||||||rs61155915||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+5115_1038+5116del|||||||rs61155915||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+5115_1131+5116del|||||||rs61155915||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+5115_1038+5116del|||||||rs61155915||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+5115_1038+5116del|||||||rs61155915||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+5115_1038+5116del|||||||rs61155915||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+5115_1131+5116del|||||||rs61155915||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||TA|TA||||chrX:g.2866837_2866838del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+5115_1038+5116del|||||||rs61155915||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||TA|TA||||chrX:g.2866837_2866838del|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|11|23|-16|39;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59656;gnomADv4_1_AC_joint_XX=42857;gnomADv4_1_AC_joint_XY=16799;gnomADv4_1_AF_grpmax_joint=0.814858;gnomADv4_1_AF_joint=0.550622;gnomADv4_1_AF_joint_XX=0.553594;gnomADv4_1_AF_joint_XY=0.543182;gnomADv4_1_AN_grpmax_joint=3392;gnomADv4_1_AN_joint=108343;gnomADv4_1_AN_joint_XX=77416;gnomADv4_1_AN_joint_XY=30927;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12841;gnomADv4_1_nhomalt_joint_XX=12841;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2867297 chrX_2867297_C_CA C CA 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADDIndel_PHREDscore=0.083;CADDIndel_Rawscore=-0.662144;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+5579dup|||||||rs57107092||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+5579dup|||||||rs57107092||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+5579dup|||||||rs57107092||1||HGNC|HGNC:4700|2||||||||Ensembl||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+5579dup|||||||rs57107092||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+5579dup|||||||rs57107092||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+5579dup|||||||rs57107092||1||HGNC|HGNC:4700|2||||||||Ensembl||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+5579dup|||||||rs57107092||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+5579dup|||||||rs57107092||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+5579dup|||||||rs57107092||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+5579dup|||||||rs57107092||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+5579dup|||||||rs57107092||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+5579dup|||||||rs57107092||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+5579dup|||||||rs57107092||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+5579dup|||||||rs57107092||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+5579dup|||||||rs57107092||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+5579dup|||||||rs57107092||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+5579dup|||||||rs57107092||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+5579dup|||||||rs57107092||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+5579dup|||||||rs57107092||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+5579dup|||||||rs57107092||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+5579dup|||||||rs57107092||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+5579dup|||||||rs57107092||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||4|chrX:g.2867301dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+5579dup|||||||rs57107092||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||4|chrX:g.2867301dup|||||||||||||;SpliceAI=CA|GYG2|0.00|0.00|0.00|0.00|-10|-4|49|-4;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=84972;gnomADv4_1_AC_joint_XX=59955;gnomADv4_1_AC_joint_XY=25017;gnomADv4_1_AF_grpmax_joint=0.901888;gnomADv4_1_AF_joint=0.770665;gnomADv4_1_AF_joint_XX=0.771125;gnomADv4_1_AF_joint_XY=0.769564;gnomADv4_1_AN_grpmax_joint=3496;gnomADv4_1_AN_joint=110258;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=32508;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=24333;gnomADv4_1_nhomalt_joint_XX=24333;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2867387 chrX_2867387_G_T G T 48 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=0.188;CADD_Rawscore=-0.443252;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+5665G>T|||||||rs6642050||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+5665G>T|||||||rs6642050||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+5665G>T|||||||rs6642050||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+5665G>T|||||||rs6642050||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+5665G>T|||||||rs6642050||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+5665G>T|||||||rs6642050||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+5665G>T|||||||rs6642050||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+5665G>T|||||||rs6642050||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+5665G>T|||||||rs6642050||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+5665G>T|||||||rs6642050||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+5665G>T|||||||rs6642050||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+5665G>T|||||||rs6642050||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+5665G>T|||||||rs6642050||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+5665G>T|||||||rs6642050||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+5665G>T|||||||rs6642050||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+5665G>T|||||||rs6642050||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+5665G>T|||||||rs6642050||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+5665G>T|||||||rs6642050||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+5665G>T|||||||rs6642050||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+5665G>T|||||||rs6642050||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+5665G>T|||||||rs6642050||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+5665G>T|||||||rs6642050||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2867387G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+5665G>T|||||||rs6642050||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2867387G>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|-18|42|-2|-30;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=93588;gnomADv4_1_AC_joint_XX=66832;gnomADv4_1_AC_joint_XY=26756;gnomADv4_1_AF_grpmax_joint=0.993267;gnomADv4_1_AF_joint=0.860738;gnomADv4_1_AF_joint_XX=0.861548;gnomADv4_1_AF_joint_XY=0.85872;gnomADv4_1_AN_grpmax_joint=3416;gnomADv4_1_AN_joint=108730;gnomADv4_1_AN_joint_XX=77572;gnomADv4_1_AN_joint_XY=31158;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=28943;gnomADv4_1_nhomalt_joint_XX=28943;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2867997 chrX_2867997_G_A G A 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=1.753;CADD_Rawscore=0.12904;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+6275G>A|||||||rs6642051||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.586+6275G>A|||||||rs6642051||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+6275G>A|||||||rs6642051||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1131+6275G>A|||||||rs6642051||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1038+6275G>A|||||||rs6642051||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.809+6275G>A|||||||rs6642051||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1038+6275G>A|||||||rs6642051||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1038+6275G>A|||||||rs6642051||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+6275G>A|||||||rs6642051||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+6275G>A|||||||rs6642051||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1131+6275G>A|||||||rs6642051||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1038+6275G>A|||||||rs6642051||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1131+6275G>A|||||||rs6642051||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1131+6275G>A|||||||rs6642051||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1131+6275G>A|||||||rs6642051||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+6275G>A|||||||rs6642051||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+6275G>A|||||||rs6642051||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1131+6275G>A|||||||rs6642051||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1038+6275G>A|||||||rs6642051||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1038+6275G>A|||||||rs6642051||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1038+6275G>A|||||||rs6642051||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+6275G>A|||||||rs6642051||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2867997G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+6275G>A|||||||rs6642051||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2867997G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-31|-50|-42|40;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64170;gnomADv4_1_AC_joint_XX=45546;gnomADv4_1_AC_joint_XY=18624;gnomADv4_1_AF_grpmax_joint=0.813906;gnomADv4_1_AF_joint=0.587627;gnomADv4_1_AF_joint_XX=0.586464;gnomADv4_1_AF_joint_XY=0.590488;gnomADv4_1_AN_grpmax_joint=3423;gnomADv4_1_AN_joint=109202;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=31540;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14935;gnomADv4_1_nhomalt_joint_XX=14935;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2869016 chrX_2869016_T_TA T TA 51 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADDIndel_PHREDscore=0.124;CADDIndel_Rawscore=-0.55294;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+7308dup|||||||rs34020477||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-6780dup|||||||rs34020477||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+7308dup|||||||rs34020477||1||HGNC|HGNC:4700|2||||||||Ensembl||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-6780dup|||||||rs34020477||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-6780dup|||||||rs34020477||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-6780dup|||||||rs34020477||1||HGNC|HGNC:4700|2||||||||Ensembl||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-6780dup|||||||rs34020477||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-6780dup|||||||rs34020477||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+7308dup|||||||rs34020477||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+7308dup|||||||rs34020477||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-6780dup|||||||rs34020477||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-6780dup|||||||rs34020477||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-6780dup|||||||rs34020477||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-6780dup|||||||rs34020477||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-6780dup|||||||rs34020477||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+7308dup|||||||rs34020477||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+7308dup|||||||rs34020477||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-6780dup|||||||rs34020477||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-6780dup|||||||rs34020477||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-6780dup|||||||rs34020477||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-6780dup|||||||rs34020477||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+7308dup|||||||rs34020477||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||14|chrX:g.2869030dup|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+7308dup|||||||rs34020477||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||14|chrX:g.2869030dup|||||||||||||;SpliceAI=TA|GYG2|0.00|0.00|0.00|0.00|16|-42|33|-44;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74623;gnomADv4_1_AC_joint_XX=58132;gnomADv4_1_AC_joint_XY=16491;gnomADv4_1_AF_grpmax_joint=0.873965;gnomADv4_1_AF_joint=0.774821;gnomADv4_1_AF_joint_XX=0.779166;gnomADv4_1_AF_joint_XY=0.759884;gnomADv4_1_AN_grpmax_joint=48439;gnomADv4_1_AN_joint=96310;gnomADv4_1_AN_joint_XX=74608;gnomADv4_1_AN_joint_XY=21702;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=23174;gnomADv4_1_nhomalt_joint_XX=23174;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2869414 chrX_2869414_G_A G A 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=0.406;CADD_Rawscore=-0.245623;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+7692G>A|||||||rs5939382||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-6396G>A|||||||rs5939382||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+7692G>A|||||||rs5939382||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-6396G>A|||||||rs5939382||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-6396G>A|||||||rs5939382||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-6396G>A|||||||rs5939382||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-6396G>A|||||||rs5939382||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-6396G>A|||||||rs5939382||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+7692G>A|||||||rs5939382||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+7692G>A|||||||rs5939382||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-6396G>A|||||||rs5939382||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-6396G>A|||||||rs5939382||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-6396G>A|||||||rs5939382||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-6396G>A|||||||rs5939382||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-6396G>A|||||||rs5939382||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+7692G>A|||||||rs5939382||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+7692G>A|||||||rs5939382||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-6396G>A|||||||rs5939382||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-6396G>A|||||||rs5939382||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-6396G>A|||||||rs5939382||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-6396G>A|||||||rs5939382||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+7692G>A|||||||rs5939382||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2869414G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+7692G>A|||||||rs5939382||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2869414G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|2|-23|-8|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=94003;gnomADv4_1_AC_joint_XX=66559;gnomADv4_1_AC_joint_XY=27444;gnomADv4_1_AF_grpmax_joint=0.938788;gnomADv4_1_AF_joint=0.858208;gnomADv4_1_AF_joint_XX=0.856461;gnomADv4_1_AF_joint_XY=0.862476;gnomADv4_1_AN_grpmax_joint=52620;gnomADv4_1_AN_joint=109534;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=31820;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=29072;gnomADv4_1_nhomalt_joint_XX=29072;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2869857 chrX_2869857_C_G C G 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=1.283;CADD_Rawscore=0.047123;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+8135C>G|||||||rs6641666||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-5953C>G|||||||rs6641666||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+8135C>G|||||||rs6641666||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-5953C>G|||||||rs6641666||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-5953C>G|||||||rs6641666||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-5953C>G|||||||rs6641666||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-5953C>G|||||||rs6641666||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-5953C>G|||||||rs6641666||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+8135C>G|||||||rs6641666||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+8135C>G|||||||rs6641666||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-5953C>G|||||||rs6641666||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-5953C>G|||||||rs6641666||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-5953C>G|||||||rs6641666||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-5953C>G|||||||rs6641666||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-5953C>G|||||||rs6641666||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+8135C>G|||||||rs6641666||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+8135C>G|||||||rs6641666||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-5953C>G|||||||rs6641666||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-5953C>G|||||||rs6641666||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-5953C>G|||||||rs6641666||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-5953C>G|||||||rs6641666||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+8135C>G|||||||rs6641666||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2869857C>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+8135C>G|||||||rs6641666||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2869857C>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|1|-29|-5|-50;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88503;gnomADv4_1_AC_joint_XX=61795;gnomADv4_1_AC_joint_XY=26708;gnomADv4_1_AF_grpmax_joint=0.884065;gnomADv4_1_AF_joint=0.795068;gnomADv4_1_AF_joint_XX=0.794505;gnomADv4_1_AF_joint_XY=0.796374;gnomADv4_1_AN_grpmax_joint=53073;gnomADv4_1_AN_joint=111315;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=33537;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25188;gnomADv4_1_nhomalt_joint_XX=25188;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2869925 chrX_2869925_G_A G A 56 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=1.077;CADD_Rawscore=0.001432;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+8203G>A|||||||rs6642052||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-5885G>A|||||||rs6642052||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+8203G>A|||||||rs6642052||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-5885G>A|||||||rs6642052||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-5885G>A|||||||rs6642052||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-5885G>A|||||||rs6642052||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-5885G>A|||||||rs6642052||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-5885G>A|||||||rs6642052||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+8203G>A|||||||rs6642052||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+8203G>A|||||||rs6642052||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-5885G>A|||||||rs6642052||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-5885G>A|||||||rs6642052||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-5885G>A|||||||rs6642052||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-5885G>A|||||||rs6642052||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-5885G>A|||||||rs6642052||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+8203G>A|||||||rs6642052||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+8203G>A|||||||rs6642052||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-5885G>A|||||||rs6642052||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-5885G>A|||||||rs6642052||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-5885G>A|||||||rs6642052||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-5885G>A|||||||rs6642052||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+8203G>A|||||||rs6642052||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2869925G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+8203G>A|||||||rs6642052||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2869925G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-46|35|35|-21;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23631;gnomADv4_1_AC_joint_XX=16884;gnomADv4_1_AC_joint_XY=6747;gnomADv4_1_AF_grpmax_joint=0.439898;gnomADv4_1_AF_joint=0.211742;gnomADv4_1_AF_joint_XX=0.217225;gnomADv4_1_AF_joint_XY=0.199162;gnomADv4_1_AN_grpmax_joint=30573;gnomADv4_1_AN_joint=111603;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=33877;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2757;gnomADv4_1_nhomalt_joint_XX=2757;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2870100 chrX_2870100_GT_G GT G 55 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADDIndel_PHREDscore=0.271;CADDIndel_Rawscore=-0.348572;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+8391del|||||||rs201814696||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-5697del|||||||rs201814696||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+8391del|||||||rs201814696||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-5697del|||||||rs201814696||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-5697del|||||||rs201814696||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-5697del|||||||rs201814696||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-5697del|||||||rs201814696||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-5697del|||||||rs201814696||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+8391del|||||||rs201814696||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+8391del|||||||rs201814696||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-5697del|||||||rs201814696||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-5697del|||||||rs201814696||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-5697del|||||||rs201814696||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-5697del|||||||rs201814696||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-5697del|||||||rs201814696||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+8391del|||||||rs201814696||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+8391del|||||||rs201814696||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-5697del|||||||rs201814696||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-5697del|||||||rs201814696||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-5697del|||||||rs201814696||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-5697del|||||||rs201814696||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+8391del|||||||rs201814696||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T|||12|chrX:g.2870113del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+8391del|||||||rs201814696||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T|||12|chrX:g.2870113del|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|45|1|16|-43;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14879;gnomADv4_1_AC_joint_XX=11165;gnomADv4_1_AC_joint_XY=3714;gnomADv4_1_AF_grpmax_joint=0.305263;gnomADv4_1_AF_joint=0.147584;gnomADv4_1_AF_joint_XX=0.151604;gnomADv4_1_AF_joint_XY=0.13669;gnomADv4_1_AN_grpmax_joint=2280;gnomADv4_1_AN_joint=100817;gnomADv4_1_AN_joint_XX=73646;gnomADv4_1_AN_joint_XY=27171;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=925;gnomADv4_1_nhomalt_joint_XX=925;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2870196 chrX_2870196_T_A T A 55 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=2.945;CADD_Rawscore=0.269209;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+8474T>A|||||||rs5982601||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-5614T>A|||||||rs5982601||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+8474T>A|||||||rs5982601||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-5614T>A|||||||rs5982601||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-5614T>A|||||||rs5982601||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-5614T>A|||||||rs5982601||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-5614T>A|||||||rs5982601||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-5614T>A|||||||rs5982601||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+8474T>A|||||||rs5982601||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+8474T>A|||||||rs5982601||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-5614T>A|||||||rs5982601||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-5614T>A|||||||rs5982601||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-5614T>A|||||||rs5982601||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-5614T>A|||||||rs5982601||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-5614T>A|||||||rs5982601||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+8474T>A|||||||rs5982601||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+8474T>A|||||||rs5982601||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-5614T>A|||||||rs5982601||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-5614T>A|||||||rs5982601||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-5614T>A|||||||rs5982601||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-5614T>A|||||||rs5982601||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+8474T>A|||||||rs5982601||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2870196T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+8474T>A|||||||rs5982601||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2870196T>A|||||||||||||;SpliceAI=A|GYG2|0.01|0.00|0.00|0.00|31|-12|31|-14;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15300;gnomADv4_1_AC_joint_XX=11285;gnomADv4_1_AC_joint_XY=4015;gnomADv4_1_AF_grpmax_joint=0.3044;gnomADv4_1_AF_joint=0.14033;gnomADv4_1_AF_joint_XX=0.14547;gnomADv4_1_AF_joint_XY=0.127651;gnomADv4_1_AN_grpmax_joint=2500;gnomADv4_1_AN_joint=109029;gnomADv4_1_AN_joint_XX=77576;gnomADv4_1_AN_joint_XY=31453;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=939;gnomADv4_1_nhomalt_joint_XX=939;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2870233 chrX_2870233_G_A G A 54 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.225;CADD_Rawscore=-0.396067;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+8511G>A|||||||rs6641667||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-5577G>A|||||||rs6641667||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+8511G>A|||||||rs6641667||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-5577G>A|||||||rs6641667||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-5577G>A|||||||rs6641667||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-5577G>A|||||||rs6641667||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-5577G>A|||||||rs6641667||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-5577G>A|||||||rs6641667||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+8511G>A|||||||rs6641667||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+8511G>A|||||||rs6641667||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-5577G>A|||||||rs6641667||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-5577G>A|||||||rs6641667||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-5577G>A|||||||rs6641667||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-5577G>A|||||||rs6641667||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-5577G>A|||||||rs6641667||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+8511G>A|||||||rs6641667||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+8511G>A|||||||rs6641667||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-5577G>A|||||||rs6641667||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-5577G>A|||||||rs6641667||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-5577G>A|||||||rs6641667||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-5577G>A|||||||rs6641667||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+8511G>A|||||||rs6641667||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2870233G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+8511G>A|||||||rs6641667||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2870233G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-6|14|-9|-6;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15561;gnomADv4_1_AC_joint_XX=11311;gnomADv4_1_AC_joint_XY=4250;gnomADv4_1_AF_grpmax_joint=0.307174;gnomADv4_1_AF_joint=0.142663;gnomADv4_1_AF_joint_XX=0.145817;gnomADv4_1_AF_joint_XY=0.134899;gnomADv4_1_AN_grpmax_joint=2523;gnomADv4_1_AN_joint=109075;gnomADv4_1_AN_joint_XX=77570;gnomADv4_1_AN_joint_XY=31505;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=945;gnomADv4_1_nhomalt_joint_XX=945;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2870347 chrX_2870347_A_C A C 47 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADD_PHREDscore=0.414;CADD_Rawscore=-0.240703;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+8625A>C|||||||rs6642054||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-5463A>C|||||||rs6642054||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+8625A>C|||||||rs6642054||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-5463A>C|||||||rs6642054||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-5463A>C|||||||rs6642054||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-5463A>C|||||||rs6642054||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-5463A>C|||||||rs6642054||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-5463A>C|||||||rs6642054||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+8625A>C|||||||rs6642054||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+8625A>C|||||||rs6642054||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-5463A>C|||||||rs6642054||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-5463A>C|||||||rs6642054||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-5463A>C|||||||rs6642054||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-5463A>C|||||||rs6642054||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-5463A>C|||||||rs6642054||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+8625A>C|||||||rs6642054||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+8625A>C|||||||rs6642054||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-5463A>C|||||||rs6642054||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-5463A>C|||||||rs6642054||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-5463A>C|||||||rs6642054||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-5463A>C|||||||rs6642054||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+8625A>C|||||||rs6642054||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2870347A>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+8625A>C|||||||rs6642054||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2870347A>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-43|-2|10|-3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15305;gnomADv4_1_AC_joint_XX=11161;gnomADv4_1_AC_joint_XY=4144;gnomADv4_1_AF_grpmax_joint=0.301348;gnomADv4_1_AF_joint=0.139352;gnomADv4_1_AF_joint_XX=0.143742;gnomADv4_1_AF_joint_XY=0.12876;gnomADv4_1_AN_grpmax_joint=2522;gnomADv4_1_AN_joint=109830;gnomADv4_1_AN_joint_XX=77646;gnomADv4_1_AN_joint_XY=32184;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=915;gnomADv4_1_nhomalt_joint_XX=915;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2870439 chrX_2870439_G_A G A 47 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADD_PHREDscore=3.348;CADD_Rawscore=0.306905;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+8717G>A|||||||rs6641668||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-5371G>A|||||||rs6641668||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+8717G>A|||||||rs6641668||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-5371G>A|||||||rs6641668||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-5371G>A|||||||rs6641668||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-5371G>A|||||||rs6641668||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-5371G>A|||||||rs6641668||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-5371G>A|||||||rs6641668||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+8717G>A|||||||rs6641668||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+8717G>A|||||||rs6641668||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-5371G>A|||||||rs6641668||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-5371G>A|||||||rs6641668||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-5371G>A|||||||rs6641668||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-5371G>A|||||||rs6641668||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-5371G>A|||||||rs6641668||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+8717G>A|||||||rs6641668||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+8717G>A|||||||rs6641668||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-5371G>A|||||||rs6641668||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-5371G>A|||||||rs6641668||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-5371G>A|||||||rs6641668||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-5371G>A|||||||rs6641668||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+8717G>A|||||||rs6641668||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2870439G>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+8717G>A|||||||rs6641668||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2870439G>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-37|0|41|-1;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9790;gnomADv4_1_AC_joint_XX=7029;gnomADv4_1_AC_joint_XY=2761;gnomADv4_1_AF_grpmax_joint=0.29713;gnomADv4_1_AF_joint=0.088562;gnomADv4_1_AF_joint_XX=0.0904214;gnomADv4_1_AF_joint_XY=0.0841563;gnomADv4_1_AN_grpmax_joint=2578;gnomADv4_1_AN_joint=110544;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=32808;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=453;gnomADv4_1_nhomalt_joint_XX=453;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2870454 chrX_2870454_G_C G C 44 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADD_PHREDscore=1.072;CADD_Rawscore=0.000199;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+8732G>C|||||||rs5982602||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-5356G>C|||||||rs5982602||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+8732G>C|||||||rs5982602||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-5356G>C|||||||rs5982602||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-5356G>C|||||||rs5982602||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-5356G>C|||||||rs5982602||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-5356G>C|||||||rs5982602||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-5356G>C|||||||rs5982602||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+8732G>C|||||||rs5982602||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+8732G>C|||||||rs5982602||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-5356G>C|||||||rs5982602||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-5356G>C|||||||rs5982602||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-5356G>C|||||||rs5982602||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-5356G>C|||||||rs5982602||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-5356G>C|||||||rs5982602||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+8732G>C|||||||rs5982602||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+8732G>C|||||||rs5982602||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-5356G>C|||||||rs5982602||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-5356G>C|||||||rs5982602||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-5356G>C|||||||rs5982602||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-5356G>C|||||||rs5982602||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+8732G>C|||||||rs5982602||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2870454G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+8732G>C|||||||rs5982602||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2870454G>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|3|-15|-16|26;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26996;gnomADv4_1_AC_joint_XX=19281;gnomADv4_1_AC_joint_XY=7715;gnomADv4_1_AF_grpmax_joint=0.442807;gnomADv4_1_AF_joint=0.245794;gnomADv4_1_AF_joint_XX=0.248434;gnomADv4_1_AF_joint_XY=0.239433;gnomADv4_1_AN_grpmax_joint=2579;gnomADv4_1_AN_joint=109832;gnomADv4_1_AN_joint_XX=77610;gnomADv4_1_AN_joint_XY=32222;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2842;gnomADv4_1_nhomalt_joint_XX=2842;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2870666 chrX_2870666_C_T C T 55 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.57;CADD_Rawscore=-0.160334;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+8944C>T|||||||rs5982603||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-5144C>T|||||||rs5982603||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+8944C>T|||||||rs5982603||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-5144C>T|||||||rs5982603||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-5144C>T|||||||rs5982603||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-5144C>T|||||||rs5982603||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-5144C>T|||||||rs5982603||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-5144C>T|||||||rs5982603||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+8944C>T|||||||rs5982603||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+8944C>T|||||||rs5982603||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-5144C>T|||||||rs5982603||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-5144C>T|||||||rs5982603||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-5144C>T|||||||rs5982603||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-5144C>T|||||||rs5982603||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-5144C>T|||||||rs5982603||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+8944C>T|||||||rs5982603||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+8944C>T|||||||rs5982603||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-5144C>T|||||||rs5982603||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-5144C>T|||||||rs5982603||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-5144C>T|||||||rs5982603||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-5144C>T|||||||rs5982603||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+8944C>T|||||||rs5982603||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2870666C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+8944C>T|||||||rs5982603||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2870666C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|0|21|-2|-45;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17527;gnomADv4_1_AC_joint_XX=12528;gnomADv4_1_AC_joint_XY=4999;gnomADv4_1_AF_grpmax_joint=0.308582;gnomADv4_1_AF_joint=0.156793;gnomADv4_1_AF_joint_XX=0.16109;gnomADv4_1_AF_joint_XY=0.146969;gnomADv4_1_AN_grpmax_joint=2680;gnomADv4_1_AN_joint=111784;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=34014;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1202;gnomADv4_1_nhomalt_joint_XX=1202;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2871005 chrX_2871005_A_AT A AT 50 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADDIndel_PHREDscore=0.932;CADDIndel_Rawscore=-0.036041;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+9294dup|||||||rs67105360||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-4794dup|||||||rs67105360||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+9294dup|||||||rs67105360||1||HGNC|HGNC:4700|2||||||||Ensembl||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-4794dup|||||||rs67105360||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-4794dup|||||||rs67105360||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-4794dup|||||||rs67105360||1||HGNC|HGNC:4700|2||||||||Ensembl||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-4794dup|||||||rs67105360||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-4794dup|||||||rs67105360||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+9294dup|||||||rs67105360||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+9294dup|||||||rs67105360||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-4794dup|||||||rs67105360||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-4794dup|||||||rs67105360||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-4794dup|||||||rs67105360||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-4794dup|||||||rs67105360||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-4794dup|||||||rs67105360||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+9294dup|||||||rs67105360||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+9294dup|||||||rs67105360||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-4794dup|||||||rs67105360||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-4794dup|||||||rs67105360||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-4794dup|||||||rs67105360||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-4794dup|||||||rs67105360||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+9294dup|||||||rs67105360||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||11|chrX:g.2871016dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+9294dup|||||||rs67105360||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||11|chrX:g.2871016dup|||||||||||||;SpliceAI=AT|GYG2|0.00|0.00|0.00|0.00|-3|50|28|49;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61268;gnomADv4_1_AC_joint_XX=45275;gnomADv4_1_AC_joint_XY=15993;gnomADv4_1_AF_grpmax_joint=0.761329;gnomADv4_1_AF_joint=0.585663;gnomADv4_1_AF_joint_XX=0.590656;gnomADv4_1_AF_joint_XY=0.571975;gnomADv4_1_AN_grpmax_joint=50844;gnomADv4_1_AN_joint=104613;gnomADv4_1_AN_joint_XX=76652;gnomADv4_1_AN_joint_XY=27961;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15684;gnomADv4_1_nhomalt_joint_XX=15684;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2871383 chrX_2871383_C_T C T 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.329;CADD_Rawscore=-0.298559;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1131+9661C>T|||||||rs5939383||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-4427C>T|||||||rs5939383||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1086+9661C>T|||||||rs5939383||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-4427C>T|||||||rs5939383||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-4427C>T|||||||rs5939383||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-4427C>T|||||||rs5939383||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-4427C>T|||||||rs5939383||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-4427C>T|||||||rs5939383||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1131+9661C>T|||||||rs5939383||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.573+9661C>T|||||||rs5939383||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-4427C>T|||||||rs5939383||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-4427C>T|||||||rs5939383||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-4427C>T|||||||rs5939383||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-4427C>T|||||||rs5939383||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-4427C>T|||||||rs5939383||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1038+9661C>T|||||||rs5939383||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1038+9661C>T|||||||rs5939383||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-4427C>T|||||||rs5939383||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-4427C>T|||||||rs5939383||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-4427C>T|||||||rs5939383||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-4427C>T|||||||rs5939383||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1131+9661C>T|||||||rs5939383||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2871383C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1038+9661C>T|||||||rs5939383||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2871383C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|25|-13|-46|-13;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=99384;gnomADv4_1_AC_joint_XX=72441;gnomADv4_1_AC_joint_XY=26943;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.936675;gnomADv4_1_AF_joint_XX=0.935133;gnomADv4_1_AF_joint_XY=0.940846;gnomADv4_1_AN_grpmax_joint=3392;gnomADv4_1_AN_joint=106103;gnomADv4_1_AN_joint_XX=77466;gnomADv4_1_AN_joint_XY=28637;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=34225;gnomADv4_1_nhomalt_joint_XX=34225;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2871387 chrX_2871387_TA_T TA T 52 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADDIndel_PHREDscore=0.102;CADDIndel_Rawscore=-0.606421;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-9651del|||||||rs57783115||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-4409del|||||||rs57783115||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-9651del|||||||rs57783115||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-4409del|||||||rs57783115||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-4409del|||||||rs57783115||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-4409del|||||||rs57783115||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-4409del|||||||rs57783115||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-4409del|||||||rs57783115||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-9651del|||||||rs57783115||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-9651del|||||||rs57783115||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-4409del|||||||rs57783115||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-4409del|||||||rs57783115||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-4409del|||||||rs57783115||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-4409del|||||||rs57783115||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-4409del|||||||rs57783115||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-9651del|||||||rs57783115||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-9651del|||||||rs57783115||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-4409del|||||||rs57783115||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-4409del|||||||rs57783115||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-4409del|||||||rs57783115||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-4409del|||||||rs57783115||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-9651del|||||||rs57783115||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A|||13|chrX:g.2871401del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-9651del|||||||rs57783115||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A|||13|chrX:g.2871401del|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|21|-17|25|-50;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62106;gnomADv4_1_AC_joint_XX=45018;gnomADv4_1_AC_joint_XY=17088;gnomADv4_1_AF_grpmax_joint=0.769385;gnomADv4_1_AF_joint=0.597863;gnomADv4_1_AF_joint_XX=0.592062;gnomADv4_1_AF_joint_XY=0.613705;gnomADv4_1_AN_grpmax_joint=51315;gnomADv4_1_AN_joint=103880;gnomADv4_1_AN_joint_XX=76036;gnomADv4_1_AN_joint_XY=27844;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=15707;gnomADv4_1_nhomalt_joint_XX=15707;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2871684 chrX_2871684_C_T C T 40 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=40;CADD_PHREDscore=0.592;CADD_Rawscore=-0.151065;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-9368C>T|||||||rs6642057||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-4126C>T|||||||rs6642057||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-9368C>T|||||||rs6642057||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-4126C>T|||||||rs6642057||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-4126C>T|||||||rs6642057||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-4126C>T|||||||rs6642057||1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-4126C>T|||||||rs6642057||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-4126C>T|||||||rs6642057||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-9368C>T|||||||rs6642057||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-9368C>T|||||||rs6642057||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-4126C>T|||||||rs6642057||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-4126C>T|||||||rs6642057||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-4126C>T|||||||rs6642057||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-4126C>T|||||||rs6642057||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-4126C>T|||||||rs6642057||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-9368C>T|||||||rs6642057||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-9368C>T|||||||rs6642057||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-4126C>T|||||||rs6642057||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-4126C>T|||||||rs6642057||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-4126C>T|||||||rs6642057||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-4126C>T|||||||rs6642057||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-9368C>T|||||||rs6642057||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2871684C>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-9368C>T|||||||rs6642057||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2871684C>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|20|-4|0|15;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=9913;gnomADv4_1_AC_joint_XX=7062;gnomADv4_1_AC_joint_XY=2851;gnomADv4_1_AF_grpmax_joint=0.349487;gnomADv4_1_AF_joint=0.0967131;gnomADv4_1_AF_joint_XX=0.0920274;gnomADv4_1_AF_joint_XY=0.110671;gnomADv4_1_AN_grpmax_joint=2146;gnomADv4_1_AN_joint=102499;gnomADv4_1_AN_joint_XX=76738;gnomADv4_1_AN_joint_XY=25761;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=472;gnomADv4_1_nhomalt_joint_XX=472;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2871689 chrX_2871689_CAAATAAATAAATAAAT_C;chrX_2871689_CAAATAAATAAATAAATAAAT_C CAAATAAATAAATAAAT C 49 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADDIndel_PHREDscore=0.483;CADDIndel_Rawscore=-0.201971;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-9331_1132-9316del|||||||rs200105400||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-4089_587-4074del|||||||rs200105400||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-9331_1087-9316del|||||||rs200105400||1||HGNC|HGNC:4700|2||||||||Ensembl||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-4089_1132-4074del|||||||rs200105400||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-4089_1039-4074del|||||||rs200105400||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-4089_810-4074del|||||||rs200105400||1||HGNC|HGNC:4700|2||||||||Ensembl||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-4089_1039-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-4089_1039-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-9331_1132-9316del|||||||rs200105400||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-9331_574-9316del|||||||rs200105400||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-4089_1132-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-4089_1039-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-4089_1132-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-4089_1132-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-4089_1132-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-9331_1039-9316del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-9331_1039-9316del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-4089_1132-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-4089_1039-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-4089_1039-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-4089_1039-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-9331_1132-9316del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-9331_1039-9316del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||AAATAAATAAATAAAT|AAATAAATAAATAAAT|||31|chrX:g.2871721_2871736del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69293;gnomADv4_1_AC_joint_XX=53657;gnomADv4_1_AC_joint_XY=15636;gnomADv4_1_AF_grpmax_joint=0.809178;gnomADv4_1_AF_joint=0.695141;gnomADv4_1_AF_joint_XX=0.703182;gnomADv4_1_AF_joint_XY=0.668891;gnomADv4_1_AN_grpmax_joint=49748;gnomADv4_1_AN_joint=99682;gnomADv4_1_AN_joint_XX=76306;gnomADv4_1_AN_joint_XY=23376;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=19920;gnomADv4_1_nhomalt_joint_XX=19920;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2871689 chrX_2871689_CAAATAAATAAATAAAT_C;chrX_2871689_CAAATAAATAAATAAATAAAT_C CAAATAAATAAATAAATAAAT C 49 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=37;CADDIndel_PHREDscore=0.47;CADDIndel_Rawscore=-0.208861;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-9335_1132-9316del|||||||rs200105400||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-4093_587-4074del|||||||rs200105400||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-9335_1087-9316del|||||||rs200105400||1||HGNC|HGNC:4700|2||||||||Ensembl||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-4093_1132-4074del|||||||rs200105400||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-4093_1039-4074del|||||||rs200105400||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-4093_810-4074del|||||||rs200105400||1||HGNC|HGNC:4700|2||||||||Ensembl||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-4093_1039-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-4093_1039-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-9335_1132-9316del|||||||rs200105400||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-9335_574-9316del|||||||rs200105400||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-4093_1132-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-4093_1039-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-4093_1132-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-4093_1132-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-4093_1132-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-9335_1039-9316del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-9335_1039-9316del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-4093_1132-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-4093_1039-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-4093_1039-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-4093_1039-4074del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-9335_1132-9316del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-9335_1039-9316del|||||||rs200105400||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||AAATAAATAAATAAATAAAT|AAATAAATAAATAAATAAAT|||27|chrX:g.2871717_2871736del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15322;gnomADv4_1_AC_joint_XX=11308;gnomADv4_1_AC_joint_XY=4014;gnomADv4_1_AF_grpmax_joint=0.37169;gnomADv4_1_AF_joint=0.153409;gnomADv4_1_AF_joint_XX=0.147945;gnomADv4_1_AF_joint_XY=0.171224;gnomADv4_1_AN_grpmax_joint=2077;gnomADv4_1_AN_joint=99877;gnomADv4_1_AN_joint_XX=76434;gnomADv4_1_AN_joint_XY=23443;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=950;gnomADv4_1_nhomalt_joint_XX=950;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2871807 chrX_2871807_T_G T G 54 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=2.932;CADD_Rawscore=0.267955;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-9245T>G|||||||rs5939384||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-4003T>G|||||||rs5939384||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-9245T>G|||||||rs5939384||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-4003T>G|||||||rs5939384||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-4003T>G|||||||rs5939384||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-4003T>G|||||||rs5939384||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-4003T>G|||||||rs5939384||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-4003T>G|||||||rs5939384||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-9245T>G|||||||rs5939384||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-9245T>G|||||||rs5939384||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-4003T>G|||||||rs5939384||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-4003T>G|||||||rs5939384||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-4003T>G|||||||rs5939384||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-4003T>G|||||||rs5939384||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-4003T>G|||||||rs5939384||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-9245T>G|||||||rs5939384||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-9245T>G|||||||rs5939384||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-4003T>G|||||||rs5939384||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-4003T>G|||||||rs5939384||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-4003T>G|||||||rs5939384||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-4003T>G|||||||rs5939384||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-9245T>G|||||||rs5939384||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2871807T>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-9245T>G|||||||rs5939384||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2871807T>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-46|17|37|35;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82221;gnomADv4_1_AC_joint_XX=57659;gnomADv4_1_AC_joint_XY=24562;gnomADv4_1_AF_grpmax_joint=0.824399;gnomADv4_1_AF_joint=0.7421;gnomADv4_1_AF_joint_XX=0.741557;gnomADv4_1_AF_joint_XY=0.743379;gnomADv4_1_AN_grpmax_joint=52995;gnomADv4_1_AN_joint=110795;gnomADv4_1_AN_joint_XX=77754;gnomADv4_1_AN_joint_XY=33041;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=21933;gnomADv4_1_nhomalt_joint_XX=21933;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2872107 chrX_2872107_T_C T C 55 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=0.75;AF_XX=1.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=1.006;CADD_Rawscore=-0.016252;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-8945T>C|||||||rs5939385||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-3703T>C|||||||rs5939385||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-8945T>C|||||||rs5939385||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-3703T>C|||||||rs5939385||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-3703T>C|||||||rs5939385||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-3703T>C|||||||rs5939385||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-3703T>C|||||||rs5939385||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-3703T>C|||||||rs5939385||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-8945T>C|||||||rs5939385||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-8945T>C|||||||rs5939385||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-3703T>C|||||||rs5939385||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-3703T>C|||||||rs5939385||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-3703T>C|||||||rs5939385||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-3703T>C|||||||rs5939385||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-3703T>C|||||||rs5939385||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-8945T>C|||||||rs5939385||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-8945T>C|||||||rs5939385||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-3703T>C|||||||rs5939385||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-3703T>C|||||||rs5939385||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-3703T>C|||||||rs5939385||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-3703T>C|||||||rs5939385||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-8945T>C|||||||rs5939385||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2872107T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-8945T>C|||||||rs5939385||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2872107T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-39|-29|-23|4;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=81847;gnomADv4_1_AC_joint_XX=57506;gnomADv4_1_AC_joint_XY=24341;gnomADv4_1_AF_grpmax_joint=0.824292;gnomADv4_1_AF_joint=0.740395;gnomADv4_1_AF_joint_XX=0.739646;gnomADv4_1_AF_joint_XY=0.742172;gnomADv4_1_AN_grpmax_joint=52906;gnomADv4_1_AN_joint=110545;gnomADv4_1_AN_joint_XX=77748;gnomADv4_1_AN_joint_XY=32797;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=21844;gnomADv4_1_nhomalt_joint_XX=21844;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2872326 chrX_2872326_T_C T C 55 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.186;CADD_Rawscore=-0.445732;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-8726T>C|||||||rs6642059||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-3484T>C|||||||rs6642059||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-8726T>C|||||||rs6642059||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-3484T>C|||||||rs6642059||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-3484T>C|||||||rs6642059||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-3484T>C|||||||rs6642059||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-3484T>C|||||||rs6642059||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-3484T>C|||||||rs6642059||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-8726T>C|||||||rs6642059||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-8726T>C|||||||rs6642059||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-3484T>C|||||||rs6642059||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-3484T>C|||||||rs6642059||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-3484T>C|||||||rs6642059||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-3484T>C|||||||rs6642059||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-3484T>C|||||||rs6642059||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-8726T>C|||||||rs6642059||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-8726T>C|||||||rs6642059||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-3484T>C|||||||rs6642059||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-3484T>C|||||||rs6642059||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-3484T>C|||||||rs6642059||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-3484T>C|||||||rs6642059||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-8726T>C|||||||rs6642059||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2872326T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-8726T>C|||||||rs6642059||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2872326T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|36|-43|27|38;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14780;gnomADv4_1_AC_joint_XX=10533;gnomADv4_1_AC_joint_XY=4247;gnomADv4_1_AF_grpmax_joint=0.295235;gnomADv4_1_AF_joint=0.131727;gnomADv4_1_AF_joint_XX=0.135372;gnomADv4_1_AF_joint_XY=0.123481;gnomADv4_1_AN_grpmax_joint=2686;gnomADv4_1_AN_joint=112202;gnomADv4_1_AN_joint_XX=77808;gnomADv4_1_AN_joint_XY=34394;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=774;gnomADv4_1_nhomalt_joint_XX=774;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2872387 chrX_2872387_TAA_T TAA T 50 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADDIndel_PHREDscore=0.627;CADDIndel_Rawscore=-0.136552;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-8661_1132-8660del|||||||rs35557796||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-3419_587-3418del|||||||rs35557796||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-8661_1087-8660del|||||||rs35557796||1||HGNC|HGNC:4700|2||||||||Ensembl||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-3419_1132-3418del|||||||rs35557796||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-3419_1039-3418del|||||||rs35557796||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-3419_810-3418del|||||||rs35557796||1||HGNC|HGNC:4700|2||||||||Ensembl||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-3419_1039-3418del|||||||rs35557796||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-3419_1039-3418del|||||||rs35557796||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-8661_1132-8660del|||||||rs35557796||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-8661_574-8660del|||||||rs35557796||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-3419_1132-3418del|||||||rs35557796||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-3419_1039-3418del|||||||rs35557796||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-3419_1132-3418del|||||||rs35557796||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-3419_1132-3418del|||||||rs35557796||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-3419_1132-3418del|||||||rs35557796||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-8661_1039-8660del|||||||rs35557796||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-8661_1039-8660del|||||||rs35557796||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-3419_1132-3418del|||||||rs35557796||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-3419_1039-3418del|||||||rs35557796||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-3419_1039-3418del|||||||rs35557796||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-3419_1039-3418del|||||||rs35557796||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-8661_1132-8660del|||||||rs35557796||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-8661_1039-8660del|||||||rs35557796||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||AA|AA|||3|chrX:g.2872391_2872392del|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|-2|-24|-2|-24;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=14783;gnomADv4_1_AC_joint_XX=10614;gnomADv4_1_AC_joint_XY=4169;gnomADv4_1_AF_grpmax_joint=0.286145;gnomADv4_1_AF_joint=0.132144;gnomADv4_1_AF_joint_XX=0.136423;gnomADv4_1_AF_joint_XY=0.122373;gnomADv4_1_AN_grpmax_joint=2656;gnomADv4_1_AN_joint=111870;gnomADv4_1_AN_joint_XX=77802;gnomADv4_1_AN_joint_XY=34068;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=794;gnomADv4_1_nhomalt_joint_XX=794;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2872721 chrX_2872721_T_A T A 50 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=1.575;CADD_Rawscore=0.100928;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-8331T>A|||||||rs73435424||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-3089T>A|||||||rs73435424||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-8331T>A|||||||rs73435424||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-3089T>A|||||||rs73435424||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-3089T>A|||||||rs73435424||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-3089T>A|||||||rs73435424||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-3089T>A|||||||rs73435424||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-3089T>A|||||||rs73435424||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-8331T>A|||||||rs73435424||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-8331T>A|||||||rs73435424||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-3089T>A|||||||rs73435424||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-3089T>A|||||||rs73435424||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-3089T>A|||||||rs73435424||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-3089T>A|||||||rs73435424||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-3089T>A|||||||rs73435424||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-8331T>A|||||||rs73435424||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-8331T>A|||||||rs73435424||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-3089T>A|||||||rs73435424||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-3089T>A|||||||rs73435424||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-3089T>A|||||||rs73435424||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-3089T>A|||||||rs73435424||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-8331T>A|||||||rs73435424||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2872721T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-8331T>A|||||||rs73435424||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2872721T>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|11|7|-50|7;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15419;gnomADv4_1_AC_joint_XX=10983;gnomADv4_1_AC_joint_XY=4436;gnomADv4_1_AF_grpmax_joint=0.33485;gnomADv4_1_AF_joint=0.138342;gnomADv4_1_AF_joint_XX=0.141177;gnomADv4_1_AF_joint_XY=0.131788;gnomADv4_1_AN_grpmax_joint=2637;gnomADv4_1_AN_joint=111456;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=33660;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=840;gnomADv4_1_nhomalt_joint_XX=840;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2873040 chrX_2873040_T_C T C 54 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=2.585;CADD_Rawscore=0.232776;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-8012T>C|||||||rs5939139||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-2770T>C|||||||rs5939139||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-8012T>C|||||||rs5939139||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-2770T>C|||||||rs5939139||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-2770T>C|||||||rs5939139||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-2770T>C|||||||rs5939139||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-2770T>C|||||||rs5939139||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-2770T>C|||||||rs5939139||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-8012T>C|||||||rs5939139||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-8012T>C|||||||rs5939139||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-2770T>C|||||||rs5939139||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-2770T>C|||||||rs5939139||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-2770T>C|||||||rs5939139||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-2770T>C|||||||rs5939139||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-2770T>C|||||||rs5939139||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-8012T>C|||||||rs5939139||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-8012T>C|||||||rs5939139||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-2770T>C|||||||rs5939139||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-2770T>C|||||||rs5939139||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-2770T>C|||||||rs5939139||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-2770T>C|||||||rs5939139||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-8012T>C|||||||rs5939139||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2873040T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-8012T>C|||||||rs5939139||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2873040T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|0|18|4|18;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82645;gnomADv4_1_AC_joint_XX=57824;gnomADv4_1_AC_joint_XY=24821;gnomADv4_1_AF_grpmax_joint=0.903721;gnomADv4_1_AF_joint=0.74465;gnomADv4_1_AF_joint_XX=0.743277;gnomADv4_1_AF_joint_XY=0.747868;gnomADv4_1_AN_grpmax_joint=2607;gnomADv4_1_AN_joint=110985;gnomADv4_1_AN_joint_XX=77796;gnomADv4_1_AN_joint_XY=33189;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=21569;gnomADv4_1_nhomalt_joint_XX=21569;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2873072 chrX_2873072_G_C G C 52 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=0.156;CADD_Rawscore=-0.492579;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-7980G>C|||||||rs34875887||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-2738G>C|||||||rs34875887||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-7980G>C|||||||rs34875887||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-2738G>C|||||||rs34875887||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-2738G>C|||||||rs34875887||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-2738G>C|||||||rs34875887||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-2738G>C|||||||rs34875887||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-2738G>C|||||||rs34875887||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-7980G>C|||||||rs34875887||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-7980G>C|||||||rs34875887||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-2738G>C|||||||rs34875887||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-2738G>C|||||||rs34875887||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-2738G>C|||||||rs34875887||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-2738G>C|||||||rs34875887||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-2738G>C|||||||rs34875887||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-7980G>C|||||||rs34875887||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-7980G>C|||||||rs34875887||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-2738G>C|||||||rs34875887||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-2738G>C|||||||rs34875887||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-2738G>C|||||||rs34875887||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-2738G>C|||||||rs34875887||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-7980G>C|||||||rs34875887||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2873072G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-7980G>C|||||||rs34875887||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2873072G>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|15|-14|-28|16;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18895;gnomADv4_1_AC_joint_XX=13391;gnomADv4_1_AC_joint_XY=5504;gnomADv4_1_AF_grpmax_joint=0.365267;gnomADv4_1_AF_joint=0.169721;gnomADv4_1_AF_joint_XX=0.172156;gnomADv4_1_AF_joint_XY=0.164073;gnomADv4_1_AN_grpmax_joint=2620;gnomADv4_1_AN_joint=111330;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=33546;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1240;gnomADv4_1_nhomalt_joint_XX=1240;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2873231 chrX_2873231_A_G A G 49 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=2.554;CADD_Rawscore=0.229499;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-7821A>G|||||||rs112874182||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-2579A>G|||||||rs112874182||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-7821A>G|||||||rs112874182||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-2579A>G|||||||rs112874182||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-2579A>G|||||||rs112874182||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-2579A>G|||||||rs112874182||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-2579A>G|||||||rs112874182||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-2579A>G|||||||rs112874182||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-7821A>G|||||||rs112874182||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-7821A>G|||||||rs112874182||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-2579A>G|||||||rs112874182||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-2579A>G|||||||rs112874182||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-2579A>G|||||||rs112874182||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-2579A>G|||||||rs112874182||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-2579A>G|||||||rs112874182||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-7821A>G|||||||rs112874182||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-7821A>G|||||||rs112874182||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-2579A>G|||||||rs112874182||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-2579A>G|||||||rs112874182||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-2579A>G|||||||rs112874182||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-2579A>G|||||||rs112874182||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-7821A>G|||||||rs112874182||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2873231A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-7821A>G|||||||rs112874182||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2873231A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|43|-3|-1|-11;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17356;gnomADv4_1_AC_joint_XX=12354;gnomADv4_1_AC_joint_XY=5002;gnomADv4_1_AF_grpmax_joint=0.358476;gnomADv4_1_AF_joint=0.155385;gnomADv4_1_AF_joint_XX=0.158824;gnomADv4_1_AF_joint_XY=0.147495;gnomADv4_1_AN_grpmax_joint=2678;gnomADv4_1_AN_joint=111697;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=33913;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1032;gnomADv4_1_nhomalt_joint_XX=1032;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2873237 chrX_2873237_G_C G C 51 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=2.501;CADD_Rawscore=0.223825;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-7815G>C|||||||rs113320039||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-2573G>C|||||||rs113320039||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-7815G>C|||||||rs113320039||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-2573G>C|||||||rs113320039||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-2573G>C|||||||rs113320039||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-2573G>C|||||||rs113320039||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-2573G>C|||||||rs113320039||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-2573G>C|||||||rs113320039||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-7815G>C|||||||rs113320039||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-7815G>C|||||||rs113320039||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-2573G>C|||||||rs113320039||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-2573G>C|||||||rs113320039||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-2573G>C|||||||rs113320039||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-2573G>C|||||||rs113320039||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-2573G>C|||||||rs113320039||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-7815G>C|||||||rs113320039||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-7815G>C|||||||rs113320039||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-2573G>C|||||||rs113320039||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-2573G>C|||||||rs113320039||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-2573G>C|||||||rs113320039||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-2573G>C|||||||rs113320039||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-7815G>C|||||||rs113320039||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2873237G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-7815G>C|||||||rs113320039||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2873237G>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-9|37|-9|-31;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17346;gnomADv4_1_AC_joint_XX=12353;gnomADv4_1_AC_joint_XY=4993;gnomADv4_1_AF_grpmax_joint=0.360225;gnomADv4_1_AF_joint=0.155613;gnomADv4_1_AF_joint_XX=0.158812;gnomADv4_1_AF_joint_XY=0.148226;gnomADv4_1_AN_grpmax_joint=2665;gnomADv4_1_AN_joint=111469;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=33685;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1032;gnomADv4_1_nhomalt_joint_XX=1032;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2873287 chrX_2873287_A_G A G 51 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=1.031;CADD_Rawscore=-0.009968;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-7765A>G|||||||rs59058875||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-2523A>G|||||||rs59058875||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-7765A>G|||||||rs59058875||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-2523A>G|||||||rs59058875||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-2523A>G|||||||rs59058875||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-2523A>G|||||||rs59058875||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-2523A>G|||||||rs59058875||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-2523A>G|||||||rs59058875||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-7765A>G|||||||rs59058875||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-7765A>G|||||||rs59058875||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-2523A>G|||||||rs59058875||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-2523A>G|||||||rs59058875||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-2523A>G|||||||rs59058875||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-2523A>G|||||||rs59058875||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-2523A>G|||||||rs59058875||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-7765A>G|||||||rs59058875||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-7765A>G|||||||rs59058875||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-2523A>G|||||||rs59058875||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-2523A>G|||||||rs59058875||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-2523A>G|||||||rs59058875||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-2523A>G|||||||rs59058875||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-7765A>G|||||||rs59058875||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2873287A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-7765A>G|||||||rs59058875||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2873287A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|-13|13|-32|-7;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17299;gnomADv4_1_AC_joint_XX=12337;gnomADv4_1_AC_joint_XY=4962;gnomADv4_1_AF_grpmax_joint=0.357745;gnomADv4_1_AF_joint=0.155296;gnomADv4_1_AF_joint_XX=0.158659;gnomADv4_1_AF_joint_XY=0.147521;gnomADv4_1_AN_grpmax_joint=2608;gnomADv4_1_AN_joint=111394;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=33636;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1031;gnomADv4_1_nhomalt_joint_XX=1031;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2873359 chrX_2873359_A_AT A AT 44 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=0.626;CADDIndel_Rawscore=-0.137113;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-7690dup|||||||rs140667508||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-2448dup|||||||rs140667508||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-7690dup|||||||rs140667508||1||HGNC|HGNC:4700|2||||||||Ensembl||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-2448dup|||||||rs140667508||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-2448dup|||||||rs140667508||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-2448dup|||||||rs140667508||1||HGNC|HGNC:4700|2||||||||Ensembl||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-2448dup|||||||rs140667508||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-2448dup|||||||rs140667508||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-7690dup|||||||rs140667508||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-7690dup|||||||rs140667508||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-2448dup|||||||rs140667508||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-2448dup|||||||rs140667508||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-2448dup|||||||rs140667508||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-2448dup|||||||rs140667508||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-2448dup|||||||rs140667508||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-7690dup|||||||rs140667508||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-7690dup|||||||rs140667508||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-2448dup|||||||rs140667508||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-2448dup|||||||rs140667508||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-2448dup|||||||rs140667508||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-2448dup|||||||rs140667508||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-7690dup|||||||rs140667508||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||3|chrX:g.2873362dup|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-7690dup|||||||rs140667508||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||3|chrX:g.2873362dup|||||||||||||;SpliceAI=AT|GYG2|0.01|0.00|0.00|0.00|12|-37|21|44;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17369;gnomADv4_1_AC_joint_XX=12378;gnomADv4_1_AC_joint_XY=4991;gnomADv4_1_AF_grpmax_joint=0.366272;gnomADv4_1_AF_joint=0.155693;gnomADv4_1_AF_joint_XX=0.159149;gnomADv4_1_AF_joint_XY=0.147737;gnomADv4_1_AN_grpmax_joint=2621;gnomADv4_1_AN_joint=111559;gnomADv4_1_AN_joint_XX=77776;gnomADv4_1_AN_joint_XY=33783;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1040;gnomADv4_1_nhomalt_joint_XX=1040;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2873563 chrX_2873563_G_C G C 54 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=1.651;CADD_Rawscore=0.113314;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-7489G>C|||||||rs12008127||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-2247G>C|||||||rs12008127||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-7489G>C|||||||rs12008127||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-2247G>C|||||||rs12008127||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-2247G>C|||||||rs12008127||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-2247G>C|||||||rs12008127||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-2247G>C|||||||rs12008127||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-2247G>C|||||||rs12008127||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-7489G>C|||||||rs12008127||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-7489G>C|||||||rs12008127||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-2247G>C|||||||rs12008127||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-2247G>C|||||||rs12008127||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-2247G>C|||||||rs12008127||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-2247G>C|||||||rs12008127||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-2247G>C|||||||rs12008127||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-7489G>C|||||||rs12008127||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-7489G>C|||||||rs12008127||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-2247G>C|||||||rs12008127||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-2247G>C|||||||rs12008127||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-2247G>C|||||||rs12008127||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-2247G>C|||||||rs12008127||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-7489G>C|||||||rs12008127||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2873563G>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-7489G>C|||||||rs12008127||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2873563G>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-40|18|-35|9;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18379;gnomADv4_1_AC_joint_XX=13273;gnomADv4_1_AC_joint_XY=5106;gnomADv4_1_AF_grpmax_joint=0.358239;gnomADv4_1_AF_joint=0.16753;gnomADv4_1_AF_joint_XX=0.171026;gnomADv4_1_AF_joint_XY=0.159075;gnomADv4_1_AN_grpmax_joint=2476;gnomADv4_1_AN_joint=109706;gnomADv4_1_AN_joint_XX=77608;gnomADv4_1_AN_joint_XY=32098;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1211;gnomADv4_1_nhomalt_joint_XX=1211;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2874097 chrX_2874097_A_AAAATAAAT A AAAATAAAT 45 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADDIndel_PHREDscore=0.86;CADDIndel_Rawscore=-0.056665;CSQ=AAATAAAT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-6943_1132-6936dup|||||||rs200188233||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-1701_587-1694dup|||||||rs200188233||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-6943_1087-6936dup|||||||rs200188233||1||HGNC|HGNC:4700|2||||||||Ensembl||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-1701_1132-1694dup|||||||rs200188233||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-1701_1039-1694dup|||||||rs200188233||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-1701_810-1694dup|||||||rs200188233||1||HGNC|HGNC:4700|2||||||||Ensembl||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-1701_1039-1694dup|||||||rs200188233||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-1701_1039-1694dup|||||||rs200188233||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-6943_1132-6936dup|||||||rs200188233||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-6943_574-6936dup|||||||rs200188233||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-1701_1132-1694dup|||||||rs200188233||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-1701_1039-1694dup|||||||rs200188233||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-1701_1132-1694dup|||||||rs200188233||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-1701_1132-1694dup|||||||rs200188233||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-1701_1132-1694dup|||||||rs200188233||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-6943_1039-6936dup|||||||rs200188233||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-6943_1039-6936dup|||||||rs200188233||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-1701_1132-1694dup|||||||rs200188233||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-1701_1039-1694dup|||||||rs200188233||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-1701_1039-1694dup|||||||rs200188233||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-1701_1039-1694dup|||||||rs200188233||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-6943_1132-6936dup|||||||rs200188233||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||19|chrX:g.2874109_2874116dup|||||||||||||,AAATAAAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-6943_1039-6936dup|||||||rs200188233||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||19|chrX:g.2874109_2874116dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT,AAATAAAT;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17162;gnomADv4_1_AC_joint_XX=13019;gnomADv4_1_AC_joint_XY=4143;gnomADv4_1_AF_grpmax_joint=0.32708;gnomADv4_1_AF_joint=0.156349;gnomADv4_1_AF_joint_XX=0.1679;gnomADv4_1_AF_joint_XY=0.128557;gnomADv4_1_AN_grpmax_joint=2452;gnomADv4_1_AN_joint=109767;gnomADv4_1_AN_joint_XX=77540;gnomADv4_1_AN_joint_XY=32227;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=1155;gnomADv4_1_nhomalt_joint_XX=1155;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2874621 chrX_2874621_A_G A G 54 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.744;CADD_Rawscore=-0.09362;CSQ=G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-6431A>G|||||||rs73435434||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||4/5|ENST00000381157.2:c.587-1189A>G|||||||rs73435434||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-6431A>G|||||||rs73435434||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||9/11|ENST00000381163.7:c.1132-1189A>G|||||||rs73435434||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||8/10|ENST00000398806.8:c.1039-1189A>G|||||||rs73435434||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||5/6|ENST00000453106.1:n.810-1189A>G|||||||rs73435434||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||8/10|NM_001079855.2:c.1039-1189A>G|||||||rs73435434||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||8/10|NM_001184702.2:c.1039-1189A>G|||||||rs73435434||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-6431A>G|||||||rs73435434||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-6431A>G|||||||rs73435434||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||9/11|NM_003918.3:c.1132-1189A>G|||||||rs73435434||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||8/10|XM_011545600.3:c.1039-1189A>G|||||||rs73435434||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||9/11|XM_017029927.2:c.1132-1189A>G|||||||rs73435434||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||9/11|XM_017029928.2:c.1132-1189A>G|||||||rs73435434||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||9/11|XM_017029929.2:c.1132-1189A>G|||||||rs73435434||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-6431A>G|||||||rs73435434||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-6431A>G|||||||rs73435434||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||9/11|XM_047442608.1:c.1132-1189A>G|||||||rs73435434||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||8/10|XM_047442609.1:c.1039-1189A>G|||||||rs73435434||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||8/10|XM_047442610.1:c.1039-1189A>G|||||||rs73435434||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||8/10|XM_047442611.1:c.1039-1189A>G|||||||rs73435434||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-6431A>G|||||||rs73435434||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2874621A>G|||||||||||||,G|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-6431A>G|||||||rs73435434||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2874621A>G|||||||||||||;SpliceAI=G|GYG2|0.01|0.00|0.00|0.00|-23|7|7|-33;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26904;gnomADv4_1_AC_joint_XX=18990;gnomADv4_1_AC_joint_XY=7914;gnomADv4_1_AF_grpmax_joint=0.504584;gnomADv4_1_AF_joint=0.241551;gnomADv4_1_AF_joint_XX=0.244213;gnomADv4_1_AF_joint_XY=0.235396;gnomADv4_1_AN_grpmax_joint=2618;gnomADv4_1_AN_joint=111380;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=33620;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=2584;gnomADv4_1_nhomalt_joint_XX=2584;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2876033 chrX_2876033_CTTTTT_C;chrX_2876033_CTTTTTTTT_C CTTTTT C 23 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=0.0;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=14;CADDIndel_PHREDscore=0.456;CADDIndel_Rawscore=-0.216192;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-4995_1132-4991del|||||||rs59937896||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||5/5|ENST00000381157.2:c.691+143_691+147del|||||||rs59937896||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-4995_1087-4991del|||||||rs59937896||1||HGNC|HGNC:4700|2||||||||Ensembl||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||10/11|ENST00000381163.7:c.1236+143_1236+147del|||||||rs59937896||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||9/10|ENST00000398806.8:c.1143+143_1143+147del|||||||rs59937896||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||6/6|ENST00000453106.1:n.914+143_914+147del|||||||rs59937896||1||HGNC|HGNC:4700|2||||||||Ensembl||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||9/10|NM_001079855.2:c.1143+143_1143+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||9/10|NM_001184702.2:c.1143+143_1143+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-4995_1132-4991del|||||||rs59937896||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-4995_574-4991del|||||||rs59937896||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||10/11|NM_003918.3:c.1236+143_1236+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||9/10|XM_011545600.3:c.1143+143_1143+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||10/11|XM_017029927.2:c.1236+143_1236+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||10/11|XM_017029928.2:c.1236+143_1236+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||10/11|XM_017029929.2:c.1236+143_1236+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-4995_1039-4991del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-4995_1039-4991del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||10/11|XM_047442608.1:c.1236+143_1236+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||9/10|XM_047442609.1:c.1143+143_1143+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||9/10|XM_047442610.1:c.1143+143_1143+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||9/10|XM_047442611.1:c.1143+143_1143+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-4995_1132-4991del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-4995_1039-4991del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||TTTTT|TTTTT|||23|chrX:g.2876057_2876061del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2775;gnomADv4_1_AC_joint_XX=2694;gnomADv4_1_AC_joint_XY=81;gnomADv4_1_AF_grpmax_joint=0.0176389;gnomADv4_1_AF_joint=0.015022;gnomADv4_1_AF_joint_XX=0.0190042;gnomADv4_1_AF_joint_XY=0.00188499;gnomADv4_1_AN_grpmax_joint=116504;gnomADv4_1_AN_joint=184729;gnomADv4_1_AN_joint_XX=141758;gnomADv4_1_AN_joint_XY=42971;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=9;gnomADv4_1_nhomalt_joint_XX=9;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2876033 chrX_2876033_CTTTTT_C;chrX_2876033_CTTTTTTTT_C CTTTTTTTT C 23 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=23;CADDIndel_PHREDscore=1.068;CADDIndel_Rawscore=-0.000838;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-4998_1132-4991del|||||||rs59937896||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||5/5|ENST00000381157.2:c.691+140_691+147del|||||||rs59937896||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-4998_1087-4991del|||||||rs59937896||1||HGNC|HGNC:4700|2||||||||Ensembl||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||10/11|ENST00000381163.7:c.1236+140_1236+147del|||||||rs59937896||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||9/10|ENST00000398806.8:c.1143+140_1143+147del|||||||rs59937896||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||6/6|ENST00000453106.1:n.914+140_914+147del|||||||rs59937896||1||HGNC|HGNC:4700|2||||||||Ensembl||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||9/10|NM_001079855.2:c.1143+140_1143+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||9/10|NM_001184702.2:c.1143+140_1143+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-4998_1132-4991del|||||||rs59937896||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-4998_574-4991del|||||||rs59937896||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||10/11|NM_003918.3:c.1236+140_1236+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||9/10|XM_011545600.3:c.1143+140_1143+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||10/11|XM_017029927.2:c.1236+140_1236+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||10/11|XM_017029928.2:c.1236+140_1236+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||10/11|XM_017029929.2:c.1236+140_1236+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-4998_1039-4991del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-4998_1039-4991del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||10/11|XM_047442608.1:c.1236+140_1236+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||9/10|XM_047442609.1:c.1143+140_1143+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||9/10|XM_047442610.1:c.1143+140_1143+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||9/10|XM_047442611.1:c.1143+140_1143+147del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-4998_1132-4991del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-4998_1039-4991del|||||||rs59937896||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||TTTTTTTT|TTTTTTTT|||20|chrX:g.2876054_2876061del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52392;gnomADv4_1_AC_joint_XX=48978;gnomADv4_1_AC_joint_XY=3414;gnomADv4_1_AF_grpmax_joint=0.370529;gnomADv4_1_AF_joint=0.321331;gnomADv4_1_AF_joint_XX=0.346801;gnomADv4_1_AF_joint_XY=0.156469;gnomADv4_1_AN_grpmax_joint=8666;gnomADv4_1_AN_joint=163047;gnomADv4_1_AN_joint_XX=141228;gnomADv4_1_AN_joint_XY=21819;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=2106;gnomADv4_1_nhomalt_joint_XX=2106;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2876420 chrX_2876420_G_T G T 49 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=0.775;CADD_Rawscore=-0.083044;CSQ=T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-4632G>T|||||||rs6567674||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||5/5|ENST00000381157.2:c.691+506G>T|||||||rs6567674||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-4632G>T|||||||rs6567674||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||10/11|ENST00000381163.7:c.1236+506G>T|||||||rs6567674||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||9/10|ENST00000398806.8:c.1143+506G>T|||||||rs6567674||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||6/6|ENST00000453106.1:n.914+506G>T|||||||rs6567674||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||9/10|NM_001079855.2:c.1143+506G>T|||||||rs6567674||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||9/10|NM_001184702.2:c.1143+506G>T|||||||rs6567674||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-4632G>T|||||||rs6567674||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-4632G>T|||||||rs6567674||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||10/11|NM_003918.3:c.1236+506G>T|||||||rs6567674||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||9/10|XM_011545600.3:c.1143+506G>T|||||||rs6567674||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||10/11|XM_017029927.2:c.1236+506G>T|||||||rs6567674||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||10/11|XM_017029928.2:c.1236+506G>T|||||||rs6567674||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||10/11|XM_017029929.2:c.1236+506G>T|||||||rs6567674||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-4632G>T|||||||rs6567674||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-4632G>T|||||||rs6567674||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||10/11|XM_047442608.1:c.1236+506G>T|||||||rs6567674||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||9/10|XM_047442609.1:c.1143+506G>T|||||||rs6567674||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||9/10|XM_047442610.1:c.1143+506G>T|||||||rs6567674||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||9/10|XM_047442611.1:c.1143+506G>T|||||||rs6567674||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-4632G>T|||||||rs6567674||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2876420G>T|||||||||||||,T|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-4632G>T|||||||rs6567674||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2876420G>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|18|-26|3|41;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=80654;gnomADv4_1_AC_joint_XX=57343;gnomADv4_1_AC_joint_XY=23311;gnomADv4_1_AF_grpmax_joint=0.89968;gnomADv4_1_AF_joint=0.739606;gnomADv4_1_AF_joint_XX=0.738043;gnomADv4_1_AF_joint_XY=0.743478;gnomADv4_1_AN_grpmax_joint=2502;gnomADv4_1_AN_joint=109050;gnomADv4_1_AN_joint_XX=77696;gnomADv4_1_AN_joint_XY=31354;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=21246;gnomADv4_1_nhomalt_joint_XX=21246;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2876817 chrX_2876817_T_C T C 48 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=0.87;CADD_Rawscore=-0.053829;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-4235T>C|||||||rs7065465||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||5/5|ENST00000381157.2:c.691+903T>C|||||||rs7065465||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-4235T>C|||||||rs7065465||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||10/11|ENST00000381163.7:c.1237-383T>C|||||||rs7065465||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||9/10|ENST00000398806.8:c.1144-383T>C|||||||rs7065465||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||6/6|ENST00000453106.1:n.915-383T>C|||||||rs7065465||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||9/10|NM_001079855.2:c.1144-383T>C|||||||rs7065465||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||9/10|NM_001184702.2:c.1144-386T>C|||||||rs7065465||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-4235T>C|||||||rs7065465||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-4235T>C|||||||rs7065465||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||10/11|NM_003918.3:c.1237-383T>C|||||||rs7065465||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||9/10|XM_011545600.3:c.1144-383T>C|||||||rs7065465||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||10/11|XM_017029927.2:c.1237-383T>C|||||||rs7065465||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||10/11|XM_017029928.2:c.1237-383T>C|||||||rs7065465||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||10/11|XM_017029929.2:c.1237-386T>C|||||||rs7065465||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-4235T>C|||||||rs7065465||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-4235T>C|||||||rs7065465||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||10/11|XM_047442608.1:c.1237-386T>C|||||||rs7065465||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||9/10|XM_047442609.1:c.1144-383T>C|||||||rs7065465||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||9/10|XM_047442610.1:c.1144-386T>C|||||||rs7065465||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||9/10|XM_047442611.1:c.1144-386T>C|||||||rs7065465||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-4235T>C|||||||rs7065465||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2876817T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-4235T>C|||||||rs7065465||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2876817T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-13|4|-19|-28;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53652;gnomADv4_1_AC_joint_XX=38641;gnomADv4_1_AC_joint_XY=15011;gnomADv4_1_AF_grpmax_joint=0.570734;gnomADv4_1_AF_joint=0.496617;gnomADv4_1_AF_joint_XX=0.498362;gnomADv4_1_AF_joint_XY=0.49218;gnomADv4_1_AN_grpmax_joint=52012;gnomADv4_1_AN_joint=108035;gnomADv4_1_AN_joint_XX=77536;gnomADv4_1_AN_joint_XY=30499;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=10038;gnomADv4_1_nhomalt_joint_XX=10038;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2879217 chrX_2879217_A_ATAT A ATAT 49 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADDIndel_PHREDscore=0.474;CADDIndel_Rawscore=-0.206477;CSQ=TAT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-1834_1132-1832dup|||||||rs56234315||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||5/5|ENST00000381157.2:c.692-1834_692-1832dup|||||||rs56234315||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-1834_1087-1832dup|||||||rs56234315||1||HGNC|HGNC:4700|2||||||||Ensembl||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||11/11|ENST00000381163.7:c.1345-1834_1345-1832dup|||||||rs56234315||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||10/10|ENST00000398806.8:c.1252-1834_1252-1832dup|||||||rs56234315||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs56234315|1774|1||HGNC|HGNC:4700|2||||||||Ensembl|||||||chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||10/10|NM_001079855.2:c.1252-1834_1252-1832dup|||||||rs56234315||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||10/10|NM_001184702.2:c.1249-1834_1249-1832dup|||||||rs56234315||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-1834_1132-1832dup|||||||rs56234315||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-1834_574-1832dup|||||||rs56234315||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||11/11|NM_003918.3:c.1345-1834_1345-1832dup|||||||rs56234315||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||10/10|XM_011545600.3:c.1252-1834_1252-1832dup|||||||rs56234315||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||11/11|XM_017029927.2:c.1345-1834_1345-1832dup|||||||rs56234315||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||11/11|XM_017029928.2:c.1345-1834_1345-1832dup|||||||rs56234315||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||11/11|XM_017029929.2:c.1342-1834_1342-1832dup|||||||rs56234315||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-1834_1039-1832dup|||||||rs56234315||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-1834_1039-1832dup|||||||rs56234315||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||11/11|XM_047442608.1:c.1342-1834_1342-1832dup|||||||rs56234315||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||10/10|XM_047442609.1:c.1252-1834_1252-1832dup|||||||rs56234315||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||10/10|XM_047442610.1:c.1249-1834_1249-1832dup|||||||rs56234315||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||10/10|XM_047442611.1:c.1249-1834_1249-1832dup|||||||rs56234315||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-1834_1132-1832dup|||||||rs56234315||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||3|chrX:g.2879218_2879220dup|||||||||||||,TAT|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-1834_1039-1832dup|||||||rs56234315||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||3|chrX:g.2879218_2879220dup|||||||||||||;TYPE=INDEL;VEP_Allele=TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT,TAT;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32751;gnomADv4_1_AC_joint_XX=24224;gnomADv4_1_AC_joint_XY=8527;gnomADv4_1_AF_grpmax_joint=0.486136;gnomADv4_1_AF_joint=0.304885;gnomADv4_1_AF_joint_XX=0.313206;gnomADv4_1_AF_joint_XY=0.283487;gnomADv4_1_AN_grpmax_joint=3390;gnomADv4_1_AN_joint=107421;gnomADv4_1_AN_joint_XX=77342;gnomADv4_1_AN_joint_XY=30079;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=3971;gnomADv4_1_nhomalt_joint_XX=3971;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2879754 chrX_2879754_T_C T C 47 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADD_PHREDscore=2.159;CADD_Rawscore=0.184318;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-1298T>C|||||||rs5982604||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||5/5|ENST00000381157.2:c.692-1298T>C|||||||rs5982604||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-1298T>C|||||||rs5982604||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||11/11|ENST00000381163.7:c.1345-1298T>C|||||||rs5982604||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||10/10|ENST00000398806.8:c.1252-1298T>C|||||||rs5982604||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2879754T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs5982604|2311|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||10/10|NM_001079855.2:c.1252-1298T>C|||||||rs5982604||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||10/10|NM_001184702.2:c.1249-1298T>C|||||||rs5982604||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-1298T>C|||||||rs5982604||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-1298T>C|||||||rs5982604||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||11/11|NM_003918.3:c.1345-1298T>C|||||||rs5982604||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||10/10|XM_011545600.3:c.1252-1298T>C|||||||rs5982604||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||11/11|XM_017029927.2:c.1345-1298T>C|||||||rs5982604||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||11/11|XM_017029928.2:c.1345-1298T>C|||||||rs5982604||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||11/11|XM_017029929.2:c.1342-1298T>C|||||||rs5982604||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-1298T>C|||||||rs5982604||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-1298T>C|||||||rs5982604||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||11/11|XM_047442608.1:c.1342-1298T>C|||||||rs5982604||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||10/10|XM_047442609.1:c.1252-1298T>C|||||||rs5982604||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||10/10|XM_047442610.1:c.1249-1298T>C|||||||rs5982604||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||10/10|XM_047442611.1:c.1249-1298T>C|||||||rs5982604||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-1298T>C|||||||rs5982604||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2879754T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-1298T>C|||||||rs5982604||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2879754T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|10|-8|30|-34;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27097;gnomADv4_1_AC_joint_XX=19244;gnomADv4_1_AC_joint_XY=7853;gnomADv4_1_AF_grpmax_joint=0.287502;gnomADv4_1_AF_joint=0.24372;gnomADv4_1_AF_joint_XX=0.247588;gnomADv4_1_AF_joint_XY=0.234733;gnomADv4_1_AN_grpmax_joint=52824;gnomADv4_1_AN_joint=111181;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=33455;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2578;gnomADv4_1_nhomalt_joint_XX=2578;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2879854 chrX_2879854_T_A T A 47 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADD_PHREDscore=0.593;CADD_Rawscore=-0.150648;CSQ=A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-1198T>A|||||||rs5982605||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||5/5|ENST00000381157.2:c.692-1198T>A|||||||rs5982605||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-1198T>A|||||||rs5982605||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||11/11|ENST00000381163.7:c.1345-1198T>A|||||||rs5982605||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||10/10|ENST00000398806.8:c.1252-1198T>A|||||||rs5982605||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2879854T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs5982605|2411|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||10/10|NM_001079855.2:c.1252-1198T>A|||||||rs5982605||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||10/10|NM_001184702.2:c.1249-1198T>A|||||||rs5982605||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-1198T>A|||||||rs5982605||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-1198T>A|||||||rs5982605||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||11/11|NM_003918.3:c.1345-1198T>A|||||||rs5982605||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||10/10|XM_011545600.3:c.1252-1198T>A|||||||rs5982605||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||11/11|XM_017029927.2:c.1345-1198T>A|||||||rs5982605||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||11/11|XM_017029928.2:c.1345-1198T>A|||||||rs5982605||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||11/11|XM_017029929.2:c.1342-1198T>A|||||||rs5982605||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-1198T>A|||||||rs5982605||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-1198T>A|||||||rs5982605||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||11/11|XM_047442608.1:c.1342-1198T>A|||||||rs5982605||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||10/10|XM_047442609.1:c.1252-1198T>A|||||||rs5982605||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||10/10|XM_047442610.1:c.1249-1198T>A|||||||rs5982605||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||10/10|XM_047442611.1:c.1249-1198T>A|||||||rs5982605||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-1198T>A|||||||rs5982605||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2879854T>A|||||||||||||,A|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-1198T>A|||||||rs5982605||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2879854T>A|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|-5|44|-12|-6;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=26710;gnomADv4_1_AC_joint_XX=19194;gnomADv4_1_AC_joint_XY=7516;gnomADv4_1_AF_grpmax_joint=0.287435;gnomADv4_1_AF_joint=0.243207;gnomADv4_1_AF_joint_XX=0.24732;gnomADv4_1_AF_joint_XY=0.2333;gnomADv4_1_AN_grpmax_joint=52457;gnomADv4_1_AN_joint=109824;gnomADv4_1_AN_joint_XX=77608;gnomADv4_1_AN_joint_XY=32216;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2571;gnomADv4_1_nhomalt_joint_XX=2571;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2880164 chrX_2880164_A_ATGTGTG A ATGTGTG 39 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=39;CADDIndel_PHREDscore=0.613;CADDIndel_Rawscore=-0.142357;CSQ=TGTGTG|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-866_1132-861dup|||||||rs10534403||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||5/5|ENST00000381157.2:c.692-866_692-861dup|||||||rs10534403||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-866_1087-861dup|||||||rs10534403||1||HGNC|HGNC:4700|2||||||||Ensembl||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||11/11|ENST00000381163.7:c.1345-866_1345-861dup|||||||rs10534403||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||10/10|ENST00000398806.8:c.1252-866_1252-861dup|||||||rs10534403||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs10534403|2721|1||HGNC|HGNC:4700|2||||||||Ensembl|||||||chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||10/10|NM_001079855.2:c.1252-866_1252-861dup|||||||rs10534403||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||10/10|NM_001184702.2:c.1249-866_1249-861dup|||||||rs10534403||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-866_1132-861dup|||||||rs10534403||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-866_574-861dup|||||||rs10534403||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||11/11|NM_003918.3:c.1345-866_1345-861dup|||||||rs10534403||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||10/10|XM_011545600.3:c.1252-866_1252-861dup|||||||rs10534403||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||11/11|XM_017029927.2:c.1345-866_1345-861dup|||||||rs10534403||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||11/11|XM_017029928.2:c.1345-866_1345-861dup|||||||rs10534403||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||11/11|XM_017029929.2:c.1342-866_1342-861dup|||||||rs10534403||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-866_1039-861dup|||||||rs10534403||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-866_1039-861dup|||||||rs10534403||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||11/11|XM_047442608.1:c.1342-866_1342-861dup|||||||rs10534403||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||10/10|XM_047442609.1:c.1252-866_1252-861dup|||||||rs10534403||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||10/10|XM_047442610.1:c.1249-866_1249-861dup|||||||rs10534403||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||10/10|XM_047442611.1:c.1249-866_1249-861dup|||||||rs10534403||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-866_1132-861dup|||||||rs10534403||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||||||27|chrX:g.2880186_2880191dup|||||||||||||,TGTGTG|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-866_1039-861dup|||||||rs10534403||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||||||27|chrX:g.2880186_2880191dup|||||||||||||;TYPE=INDEL;VEP_Allele=TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG,TGTGTG;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17691;gnomADv4_1_AC_joint_XX=13573;gnomADv4_1_AC_joint_XY=4118;gnomADv4_1_AF_grpmax_joint=0.197452;gnomADv4_1_AF_joint=0.168616;gnomADv4_1_AF_joint_XX=0.176585;gnomADv4_1_AF_joint_XY=0.146783;gnomADv4_1_AN_grpmax_joint=50934;gnomADv4_1_AN_joint=104919;gnomADv4_1_AN_joint_XX=76864;gnomADv4_1_AN_joint_XY=28055;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1230;gnomADv4_1_nhomalt_joint_XX=1230;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2880415 chrX_2880415_AGT_A AGT A 45 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADDIndel_PHREDscore=0.872;CADDIndel_Rawscore=-0.053045;CSQ=-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-613_1132-612del|||||||rs34658826||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||5/5|ENST00000381157.2:c.692-613_692-612del|||||||rs34658826||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-613_1087-612del|||||||rs34658826||1||HGNC|HGNC:4700|2||||||||Ensembl||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||11/11|ENST00000381163.7:c.1345-613_1345-612del|||||||rs34658826||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||10/10|ENST00000398806.8:c.1252-613_1252-612del|||||||rs34658826||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs34658826|2973|1||HGNC|HGNC:4700|2||||||||Ensembl||GT|GT||||chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||10/10|NM_001079855.2:c.1252-613_1252-612del|||||||rs34658826||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||10/10|NM_001184702.2:c.1249-613_1249-612del|||||||rs34658826||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-613_1132-612del|||||||rs34658826||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-613_574-612del|||||||rs34658826||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||11/11|NM_003918.3:c.1345-613_1345-612del|||||||rs34658826||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||10/10|XM_011545600.3:c.1252-613_1252-612del|||||||rs34658826||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||11/11|XM_017029927.2:c.1345-613_1345-612del|||||||rs34658826||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||11/11|XM_017029928.2:c.1345-613_1345-612del|||||||rs34658826||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||11/11|XM_017029929.2:c.1342-613_1342-612del|||||||rs34658826||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-613_1039-612del|||||||rs34658826||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-613_1039-612del|||||||rs34658826||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||11/11|XM_047442608.1:c.1342-613_1342-612del|||||||rs34658826||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||10/10|XM_047442609.1:c.1252-613_1252-612del|||||||rs34658826||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||10/10|XM_047442610.1:c.1249-613_1249-612del|||||||rs34658826||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||10/10|XM_047442611.1:c.1249-613_1249-612del|||||||rs34658826||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-613_1132-612del|||||||rs34658826||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||,-|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-613_1039-612del|||||||rs34658826||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||GT|GT|||23|chrX:g.2880439_2880440del|||||||||||||;SpliceAI=A|GYG2|0.00|0.00|0.00|0.00|4|2|-21|-17;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=61686;gnomADv4_1_AC_joint_XX=47140;gnomADv4_1_AC_joint_XY=14546;gnomADv4_1_AF_grpmax_joint=0.811377;gnomADv4_1_AF_joint=0.612925;gnomADv4_1_AF_joint_XX=0.620377;gnomADv4_1_AF_joint_XY=0.589958;gnomADv4_1_AN_grpmax_joint=2004;gnomADv4_1_AN_joint=100642;gnomADv4_1_AN_joint_XX=75986;gnomADv4_1_AN_joint_XY=24656;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=14614;gnomADv4_1_nhomalt_joint_XX=14614;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2880437 chrX_2880437_T_C T C 42 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADD_PHREDscore=1.702;CADD_Rawscore=0.121324;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-615T>C|||||||rs950599821||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||5/5|ENST00000381157.2:c.692-615T>C|||||||rs950599821||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-615T>C|||||||rs950599821||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||11/11|ENST00000381163.7:c.1345-615T>C|||||||rs950599821||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||10/10|ENST00000398806.8:c.1252-615T>C|||||||rs950599821||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2880437T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs950599821|2994|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||10/10|NM_001079855.2:c.1252-615T>C|||||||rs950599821||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||10/10|NM_001184702.2:c.1249-615T>C|||||||rs950599821||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-615T>C|||||||rs950599821||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-615T>C|||||||rs950599821||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||11/11|NM_003918.3:c.1345-615T>C|||||||rs950599821||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||10/10|XM_011545600.3:c.1252-615T>C|||||||rs950599821||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||11/11|XM_017029927.2:c.1345-615T>C|||||||rs950599821||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||11/11|XM_017029928.2:c.1345-615T>C|||||||rs950599821||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||11/11|XM_017029929.2:c.1342-615T>C|||||||rs950599821||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-615T>C|||||||rs950599821||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-615T>C|||||||rs950599821||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||11/11|XM_047442608.1:c.1342-615T>C|||||||rs950599821||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||10/10|XM_047442609.1:c.1252-615T>C|||||||rs950599821||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||10/10|XM_047442610.1:c.1249-615T>C|||||||rs950599821||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||10/10|XM_047442611.1:c.1249-615T>C|||||||rs950599821||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-615T>C|||||||rs950599821||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2880437T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-615T>C|||||||rs950599821||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2880437T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-50|45|-39|-43;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=86;gnomADv4_1_AC_joint_XX=62;gnomADv4_1_AC_joint_XY=24;gnomADv4_1_AF_grpmax_joint=0.0042505;gnomADv4_1_AF_joint=0.000789353;gnomADv4_1_AF_joint_XX=0.000808618;gnomADv4_1_AF_joint_XY=0.000743587;gnomADv4_1_AN_grpmax_joint=3529;gnomADv4_1_AN_joint=108950;gnomADv4_1_AN_joint_XX=76674;gnomADv4_1_AN_joint_XY=32276;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XX=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2880439 chrX_2880439_T_C T C 44 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADD_PHREDscore=0.746;CADD_Rawscore=-0.09277;CSQ=C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||8/8|ENST00000353656.10:c.1132-613T>C|||||||rs12388511||1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||5/5|ENST00000381157.2:c.692-613T>C|||||||rs12388511||1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||7/7|ENST00000381161.5:n.1087-613T>C|||||||rs12388511||1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||11/11|ENST00000381163.7:c.1345-613T>C|||||||rs12388511||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||10/10|ENST00000398806.8:c.1252-613T>C|||||||rs12388511||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2880439T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs12388511|2996|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||10/10|NM_001079855.2:c.1252-613T>C|||||||rs12388511||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||10/10|NM_001184702.2:c.1249-613T>C|||||||rs12388511||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||9/9|NM_001184703.2:c.1132-613T>C|||||||rs12388511||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||7/7|NM_001184704.2:c.574-613T>C|||||||rs12388511||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||11/11|NM_003918.3:c.1345-613T>C|||||||rs12388511||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||10/10|XM_011545600.3:c.1252-613T>C|||||||rs12388511||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||11/11|XM_017029927.2:c.1345-613T>C|||||||rs12388511||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||11/11|XM_017029928.2:c.1345-613T>C|||||||rs12388511||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||11/11|XM_017029929.2:c.1342-613T>C|||||||rs12388511||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||8/8|XM_017029930.2:c.1039-613T>C|||||||rs12388511||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||8/8|XM_017029931.2:c.1039-613T>C|||||||rs12388511||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||11/11|XM_047442608.1:c.1342-613T>C|||||||rs12388511||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||10/10|XM_047442609.1:c.1252-613T>C|||||||rs12388511||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||10/10|XM_047442610.1:c.1249-613T>C|||||||rs12388511||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||10/10|XM_047442611.1:c.1249-613T>C|||||||rs12388511||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||9/9|XM_047442612.1:c.1132-613T>C|||||||rs12388511||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2880439T>C|||||||||||||,C|intron_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||8/8|XM_047442613.1:c.1039-613T>C|||||||rs12388511||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2880439T>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-33|5|-4|-45;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27019;gnomADv4_1_AC_joint_XX=19219;gnomADv4_1_AC_joint_XY=7800;gnomADv4_1_AF_grpmax_joint=0.293154;gnomADv4_1_AF_joint=0.26069;gnomADv4_1_AF_joint_XX=0.256274;gnomADv4_1_AF_joint_XY=0.272251;gnomADv4_1_AN_grpmax_joint=50134;gnomADv4_1_AN_joint=103644;gnomADv4_1_AN_joint_XX=74994;gnomADv4_1_AN_joint_XY=28650;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2450;gnomADv4_1_nhomalt_joint_XX=2450;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2882254 chrX_2882254_G_C G C 54 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.289;CADD_Rawscore=-0.33139;CSQ=C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs211660|1041|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2882254G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs211660|1163|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2882254G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined|8/8||ENST00000381161.5:n.2289G>C||2289|||||rs211660||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding|12/12||ENST00000381163.7:c.*1041G>C||2829|||||rs211660||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding|11/11||ENST00000398806.8:c.*1041G>C||2628|||||rs211660||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2882254G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000453106|protein_coding_CDS_not_defined||||||||||rs211660|4811|1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding|11/11||NM_001079855.2:c.*1041G>C||2628|||||rs211660||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding|11/11||NM_001184702.2:c.*1041G>C||2625|||||rs211660||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding|10/10||NM_001184703.2:c.*1041G>C||2508|||||rs211660||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding|8/8||NM_001184704.2:c.*1041G>C||2273|||||rs211660||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding|12/12||NM_003918.3:c.*1041G>C||2721|||||rs211660||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding|11/11||XM_011545600.3:c.*1041G>C||2668|||||rs211660||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding|12/12||XM_017029927.2:c.*1041G>C||2761|||||rs211660||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding|12/12||XM_017029928.2:c.*1041G>C||2832|||||rs211660||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding|12/12||XM_017029929.2:c.*1041G>C||2718|||||rs211660||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding|9/9||XM_017029930.2:c.*1041G>C||2415|||||rs211660||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding|9/9||XM_017029931.2:c.*1041G>C||2455|||||rs211660||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding|12/12||XM_047442608.1:c.*1041G>C||2829|||||rs211660||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding|11/11||XM_047442609.1:c.*1041G>C||2739|||||rs211660||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding|11/11||XM_047442610.1:c.*1041G>C||2736|||||rs211660||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding|11/11||XM_047442611.1:c.*1041G>C||2665|||||rs211660||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding|10/10||XM_047442612.1:c.*1041G>C||2548|||||rs211660||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2882254G>C|||||||||||||,C|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding|9/9||XM_047442613.1:c.*1041G>C||2526|||||rs211660||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2882254G>C|||||||||||||;SpliceAI=C|GYG2|0.00|0.00|0.00|0.00|-43|45|44|-44;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,ENST00000453106,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=88686;gnomADv4_1_AC_joint_XX=63817;gnomADv4_1_AC_joint_XY=24869;gnomADv4_1_AF_grpmax_joint=0.909315;gnomADv4_1_AF_joint=0.821707;gnomADv4_1_AF_joint_XX=0.821833;gnomADv4_1_AF_joint_XY=0.821383;gnomADv4_1_AN_grpmax_joint=52236;gnomADv4_1_AN_joint=107929;gnomADv4_1_AN_joint_XX=77652;gnomADv4_1_AN_joint_XY=30277;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=26797;gnomADv4_1_nhomalt_joint_XX=26797;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2882583 chrX_2882583_G_T G T 54 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.56;CADD_Rawscore=-0.164713;CSQ=T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs1269|1370|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2882583G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs1269|1492|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2882583G>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined|8/8||ENST00000381161.5:n.2618G>T||2618|||||rs1269||1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding|12/12||ENST00000381163.7:c.*1370G>T||3158|||||rs1269||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding|11/11||ENST00000398806.8:c.*1370G>T||2957|||||rs1269||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding|11/11||NM_001079855.2:c.*1370G>T||2957|||||rs1269||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding|11/11||NM_001184702.2:c.*1370G>T||2954|||||rs1269||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding|10/10||NM_001184703.2:c.*1370G>T||2837|||||rs1269||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding|8/8||NM_001184704.2:c.*1370G>T||2602|||||rs1269||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding|12/12||NM_003918.3:c.*1370G>T||3050|||||rs1269||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding|11/11||XM_011545600.3:c.*1370G>T||2997|||||rs1269||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding|12/12||XM_017029927.2:c.*1370G>T||3090|||||rs1269||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding|12/12||XM_017029928.2:c.*1370G>T||3161|||||rs1269||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding|12/12||XM_017029929.2:c.*1370G>T||3047|||||rs1269||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding|9/9||XM_017029930.2:c.*1370G>T||2744|||||rs1269||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding|9/9||XM_017029931.2:c.*1370G>T||2784|||||rs1269||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding|12/12||XM_047442608.1:c.*1370G>T||3158|||||rs1269||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding|11/11||XM_047442609.1:c.*1370G>T||3068|||||rs1269||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding|11/11||XM_047442610.1:c.*1370G>T||3065|||||rs1269||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding|11/11||XM_047442611.1:c.*1370G>T||2994|||||rs1269||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding|10/10||XM_047442612.1:c.*1370G>T||2877|||||rs1269||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2882583G>T|||||||||||||,T|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding|9/9||XM_047442613.1:c.*1370G>T||2855|||||rs1269||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2882583G>T|||||||||||||;SpliceAI=T|GYG2|0.00|0.00|0.00|0.00|9|-13|10|18;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56521;gnomADv4_1_AC_joint_XX=40877;gnomADv4_1_AC_joint_XY=15644;gnomADv4_1_AF_grpmax_joint=0.608354;gnomADv4_1_AF_joint=0.526242;gnomADv4_1_AF_joint_XX=0.526861;gnomADv4_1_AF_joint_XY=0.524632;gnomADv4_1_AN_grpmax_joint=9935;gnomADv4_1_AN_joint=107405;gnomADv4_1_AN_joint_XX=77586;gnomADv4_1_AN_joint_XY=29819;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=11313;gnomADv4_1_nhomalt_joint_XX=11313;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2882636 chrX_2882636_A_G A G 52 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=0.701;CADD_Rawscore=-0.108602;CSQ=G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs1268|1423|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2882636A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs1268|1545|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2882636A>G|||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined|8/8||ENST00000381161.5:n.2671A>G||2671|||||rs1268||1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding|12/12||ENST00000381163.7:c.*1423A>G||3211|||||rs1268||1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding|11/11||ENST00000398806.8:c.*1423A>G||3010|||||rs1268||1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding|11/11||NM_001079855.2:c.*1423A>G||3010|||||rs1268||1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding|11/11||NM_001184702.2:c.*1423A>G||3007|||||rs1268||1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding|10/10||NM_001184703.2:c.*1423A>G||2890|||||rs1268||1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding|8/8||NM_001184704.2:c.*1423A>G||2655|||||rs1268||1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding|12/12||NM_003918.3:c.*1423A>G||3103|||||rs1268||1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding|11/11||XM_011545600.3:c.*1423A>G||3050|||||rs1268||1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding|12/12||XM_017029927.2:c.*1423A>G||3143|||||rs1268||1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding|12/12||XM_017029928.2:c.*1423A>G||3214|||||rs1268||1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding|12/12||XM_017029929.2:c.*1423A>G||3100|||||rs1268||1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding|9/9||XM_017029930.2:c.*1423A>G||2797|||||rs1268||1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding|9/9||XM_017029931.2:c.*1423A>G||2837|||||rs1268||1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding|12/12||XM_047442608.1:c.*1423A>G||3211|||||rs1268||1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding|11/11||XM_047442609.1:c.*1423A>G||3121|||||rs1268||1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding|11/11||XM_047442610.1:c.*1423A>G||3118|||||rs1268||1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding|11/11||XM_047442611.1:c.*1423A>G||3047|||||rs1268||1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding|10/10||XM_047442612.1:c.*1423A>G||2930|||||rs1268||1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2882636A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding|9/9||XM_047442613.1:c.*1423A>G||2908|||||rs1268||1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2882636A>G|||||||||||||;SpliceAI=G|GYG2|0.00|0.00|0.00|0.00|46|-1|-35|30;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72404;gnomADv4_1_AC_joint_XX=52451;gnomADv4_1_AC_joint_XY=19953;gnomADv4_1_AF_grpmax_joint=0.825978;gnomADv4_1_AF_joint=0.671184;gnomADv4_1_AF_joint_XX=0.674976;gnomADv4_1_AF_joint_XY=0.661418;gnomADv4_1_AN_grpmax_joint=29456;gnomADv4_1_AN_joint=107875;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=30167;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18159;gnomADv4_1_nhomalt_joint_XX=18159;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2882959 chrX_2882959_G_A G A 52 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.333333;AF_XX=0.0;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=52;CADD_PHREDscore=0.423;CADD_Rawscore=-0.235197;CSQ=A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs12844789|1746|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs12844789|1868|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs12844789|142|1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs12844789|141|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs12844789|141|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs12844789|141|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs12844789|141|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs12844789|141|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs12844789|141|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs12844789|141|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs12844789|141|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs12844789|141|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs12844789|141|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs12844789|141|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs12844789|141|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs12844789|141|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs12844789|141|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs12844789|141|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs12844789|141|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs12844789|141|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs12844789|141|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2882959G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs12844789|141|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2882959G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54394;gnomADv4_1_AC_joint_XX=38118;gnomADv4_1_AC_joint_XY=16276;gnomADv4_1_AF_grpmax_joint=0.603084;gnomADv4_1_AF_joint=0.495812;gnomADv4_1_AF_joint_XX=0.491249;gnomADv4_1_AF_joint_XY=0.506835;gnomADv4_1_AN_grpmax_joint=10181;gnomADv4_1_AN_joint=109707;gnomADv4_1_AN_joint_XX=77594;gnomADv4_1_AN_joint_XY=32113;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=9853;gnomADv4_1_nhomalt_joint_XX=9853;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2882985 chrX_2882985_T_A T A 49 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.333333;AF_XX=0.0;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=49;CADD_PHREDscore=2.998;CADD_Rawscore=0.274307;CSQ=A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs12859113|1772|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs12859113|1894|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs12859113|168|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs12859113|167|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs12859113|167|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs12859113|167|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs12859113|167|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs12859113|167|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs12859113|167|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs12859113|167|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs12859113|167|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs12859113|167|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs12859113|167|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs12859113|167|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs12859113|167|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs12859113|167|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs12859113|167|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs12859113|167|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs12859113|167|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs12859113|167|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs12859113|167|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2882985T>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs12859113|167|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2882985T>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54469;gnomADv4_1_AC_joint_XX=38235;gnomADv4_1_AC_joint_XY=16234;gnomADv4_1_AF_grpmax_joint=0.601549;gnomADv4_1_AF_joint=0.495488;gnomADv4_1_AF_joint_XX=0.492186;gnomADv4_1_AF_joint_XY=0.503442;gnomADv4_1_AN_grpmax_joint=10202;gnomADv4_1_AN_joint=109930;gnomADv4_1_AN_joint_XX=77684;gnomADv4_1_AN_joint_XY=32246;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=9911;gnomADv4_1_nhomalt_joint_XX=9911;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2883114 chrX_2883114_C_A C A 48 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=0.103;CADD_Rawscore=-0.602526;CSQ=A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs211664|1901|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs211664|2023|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs211664|297|1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs211664|296|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs211664|296|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs211664|296|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs211664|296|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs211664|296|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs211664|296|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs211664|296|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs211664|296|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs211664|296|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs211664|296|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs211664|296|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs211664|296|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs211664|296|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs211664|296|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs211664|296|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs211664|296|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs211664|296|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs211664|296|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2883114C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs211664|296|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2883114C>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=53296;gnomADv4_1_AC_joint_XX=38216;gnomADv4_1_AC_joint_XY=15080;gnomADv4_1_AF_grpmax_joint=0.597854;gnomADv4_1_AF_joint=0.494622;gnomADv4_1_AF_joint_XX=0.492677;gnomADv4_1_AF_joint_XY=0.499619;gnomADv4_1_AN_grpmax_joint=9877;gnomADv4_1_AN_joint=107751;gnomADv4_1_AN_joint_XX=77568;gnomADv4_1_AN_joint_XY=30183;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=9886;gnomADv4_1_nhomalt_joint_XX=9886;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2883264 chrX_2883264_T_TATA T TATA 46 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=46;CADDIndel_PHREDscore=0.987;CADDIndel_Rawscore=-0.02113;CSQ=ATA|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs56975886|2051|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs56975886|2173|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs56975886|447|1||HGNC|HGNC:4700|2||||||||Ensembl|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs56975886|446|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs56975886|446|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs56975886|446|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs56975886|446|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs56975886|446|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs56975886|446|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs56975886|446|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs56975886|446|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs56975886|446|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs56975886|446|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs56975886|446|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs56975886|446|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs56975886|446|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs56975886|446|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs56975886|446|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs56975886|446|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs56975886|446|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs56975886|446|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq|||||||chrX:g.2883281_2883283dup|||||||||||||,ATA|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs56975886|446|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq|||||||chrX:g.2883281_2883283dup|||||||||||||;TYPE=INDEL;VEP_Allele=ATA,ATA,ATA,ATA,ATA,ATA,ATA,ATA,ATA,ATA,ATA,ATA,ATA,ATA,ATA,ATA,ATA,ATA,ATA,ATA,ATA,ATA;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43150;gnomADv4_1_AC_joint_XX=32599;gnomADv4_1_AC_joint_XY=10551;gnomADv4_1_AF_grpmax_joint=0.634322;gnomADv4_1_AF_joint=0.406703;gnomADv4_1_AF_joint_XX=0.425308;gnomADv4_1_AF_joint_XY=0.35828;gnomADv4_1_AN_grpmax_joint=28681;gnomADv4_1_AN_joint=106097;gnomADv4_1_AN_joint_XX=76648;gnomADv4_1_AN_joint_XY=29449;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7783;gnomADv4_1_nhomalt_joint_XX=7783;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2884020 chrX_2884020_G_GC G GC 47 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADDIndel_PHREDscore=1.082;CADDIndel_Rawscore=0.002565;CSQ=C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs60283458|2807|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs60283458|2929|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs60283458|1203|1||HGNC|HGNC:4700|2||||||||Ensembl|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs60283458|1202|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs60283458|1202|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs60283458|1202|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs60283458|1202|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs60283458|1202|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs60283458|1202|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs60283458|1202|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs60283458|1202|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs60283458|1202|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs60283458|1202|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs60283458|1202|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs60283458|1202|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs60283458|1202|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs60283458|1202|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs60283458|1202|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs60283458|1202|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs60283458|1202|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs60283458|1202|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq|||||||chrX:g.2884022dup|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs60283458|1202|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq|||||||chrX:g.2884022dup|||||||||||||;TYPE=INDEL;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45626;gnomADv4_1_AC_joint_XX=33137;gnomADv4_1_AC_joint_XY=12489;gnomADv4_1_AF_grpmax_joint=0.641112;gnomADv4_1_AF_joint=0.416565;gnomADv4_1_AF_joint_XX=0.426726;gnomADv4_1_AF_joint_XY=0.391812;gnomADv4_1_AN_grpmax_joint=29962;gnomADv4_1_AN_joint=109529;gnomADv4_1_AN_joint_XX=77654;gnomADv4_1_AN_joint_XY=31875;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7931;gnomADv4_1_nhomalt_joint_XX=7931;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2884141 chrX_2884141_A_C A C 49 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=0.448;CADD_Rawscore=-0.22044;CSQ=C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs12391908|2928|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs12391908|3050|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs12391908|1324|1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs12391908|1323|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs12391908|1323|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs12391908|1323|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs12391908|1323|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs12391908|1323|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs12391908|1323|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs12391908|1323|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs12391908|1323|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs12391908|1323|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs12391908|1323|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs12391908|1323|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs12391908|1323|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs12391908|1323|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs12391908|1323|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs12391908|1323|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs12391908|1323|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs12391908|1323|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs12391908|1323|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2884141A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs12391908|1323|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2884141A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30764;gnomADv4_1_AC_joint_XX=22591;gnomADv4_1_AC_joint_XY=8173;gnomADv4_1_AF_grpmax_joint=0.344734;gnomADv4_1_AF_joint=0.286057;gnomADv4_1_AF_joint_XX=0.292334;gnomADv4_1_AF_joint_XY=0.27003;gnomADv4_1_AN_grpmax_joint=52075;gnomADv4_1_AN_joint=107545;gnomADv4_1_AN_joint_XX=77278;gnomADv4_1_AN_joint_XY=30267;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3577;gnomADv4_1_nhomalt_joint_XX=3577;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2884315 chrX_2884315_G_A G A 50 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=3.606;CADD_Rawscore=0.330184;CSQ=A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs62582348|3102|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs62582348|3224|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs62582348|1498|1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs62582348|1497|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs62582348|1497|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs62582348|1497|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs62582348|1497|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs62582348|1497|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs62582348|1497|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs62582348|1497|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs62582348|1497|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs62582348|1497|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs62582348|1497|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs62582348|1497|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs62582348|1497|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs62582348|1497|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs62582348|1497|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs62582348|1497|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs62582348|1497|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs62582348|1497|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs62582348|1497|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2884315G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs62582348|1497|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2884315G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15261;gnomADv4_1_AC_joint_XX=11123;gnomADv4_1_AC_joint_XY=4138;gnomADv4_1_AF_grpmax_joint=0.21028;gnomADv4_1_AF_joint=0.137751;gnomADv4_1_AF_joint_XX=0.143057;gnomADv4_1_AF_joint_XY=0.125261;gnomADv4_1_AN_grpmax_joint=214;gnomADv4_1_AN_joint=110787;gnomADv4_1_AN_joint_XX=77752;gnomADv4_1_AN_joint_XY=33035;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1143;gnomADv4_1_nhomalt_joint_XX=1143;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2884327 chrX_2884327_G_A G A 49 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=1.151;CADD_Rawscore=0.018782;CSQ=A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs211665|3114|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs211665|3236|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs211665|1510|1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs211665|1509|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs211665|1509|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs211665|1509|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs211665|1509|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs211665|1509|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs211665|1509|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs211665|1509|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs211665|1509|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs211665|1509|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs211665|1509|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs211665|1509|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs211665|1509|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs211665|1509|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs211665|1509|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs211665|1509|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs211665|1509|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs211665|1509|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs211665|1509|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2884327G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs211665|1509|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2884327G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45164;gnomADv4_1_AC_joint_XX=32536;gnomADv4_1_AC_joint_XY=12628;gnomADv4_1_AF_grpmax_joint=0.621903;gnomADv4_1_AF_joint=0.410466;gnomADv4_1_AF_joint_XX=0.418793;gnomADv4_1_AF_joint_XY=0.390464;gnomADv4_1_AN_grpmax_joint=30188;gnomADv4_1_AN_joint=110031;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=32341;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7585;gnomADv4_1_nhomalt_joint_XX=7585;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2884355 chrX_2884355_T_C T C 48 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=0.525;CADD_Rawscore=-0.180954;CSQ=C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs1637783|3142|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs1637783|3264|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs1637783|1538|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs1637783|1537|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs1637783|1537|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs1637783|1537|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs1637783|1537|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs1637783|1537|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs1637783|1537|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs1637783|1537|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs1637783|1537|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs1637783|1537|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs1637783|1537|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs1637783|1537|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs1637783|1537|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs1637783|1537|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs1637783|1537|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs1637783|1537|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs1637783|1537|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs1637783|1537|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs1637783|1537|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2884355T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs1637783|1537|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2884355T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45117;gnomADv4_1_AC_joint_XX=32478;gnomADv4_1_AC_joint_XY=12639;gnomADv4_1_AF_grpmax_joint=0.620983;gnomADv4_1_AF_joint=0.409786;gnomADv4_1_AF_joint_XX=0.418499;gnomADv4_1_AF_joint_XY=0.388976;gnomADv4_1_AN_grpmax_joint=30186;gnomADv4_1_AN_joint=110099;gnomADv4_1_AN_joint_XX=77606;gnomADv4_1_AN_joint_XY=32493;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7550;gnomADv4_1_nhomalt_joint_XX=7550;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2884356 chrX_2884356_T_C T C 51 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=0.374;CADD_Rawscore=-0.265814;CSQ=C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs1637784|3143|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs1637784|3265|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs1637784|1539|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs1637784|1538|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs1637784|1538|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs1637784|1538|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs1637784|1538|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs1637784|1538|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs1637784|1538|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs1637784|1538|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs1637784|1538|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs1637784|1538|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs1637784|1538|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs1637784|1538|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs1637784|1538|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs1637784|1538|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs1637784|1538|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs1637784|1538|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs1637784|1538|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs1637784|1538|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs1637784|1538|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2884356T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs1637784|1538|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2884356T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45118;gnomADv4_1_AC_joint_XX=32474;gnomADv4_1_AC_joint_XY=12644;gnomADv4_1_AF_grpmax_joint=0.621251;gnomADv4_1_AF_joint=0.410123;gnomADv4_1_AF_joint_XX=0.418576;gnomADv4_1_AF_joint_XY=0.389898;gnomADv4_1_AN_grpmax_joint=30173;gnomADv4_1_AN_joint=110011;gnomADv4_1_AN_joint_XX=77582;gnomADv4_1_AN_joint_XY=32429;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7549;gnomADv4_1_nhomalt_joint_XX=7549;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2884685 chrX_2884685_T_C T C 49 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=2.496;CADD_Rawscore=0.22328;CSQ=C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs211668|3472|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs211668|3594|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs211668|1868|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs211668|1867|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs211668|1867|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs211668|1867|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs211668|1867|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs211668|1867|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs211668|1867|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs211668|1867|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs211668|1867|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs211668|1867|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs211668|1867|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs211668|1867|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs211668|1867|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs211668|1867|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs211668|1867|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs211668|1867|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs211668|1867|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs211668|1867|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs211668|1867|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2884685T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs211668|1867|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2884685T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=99385;gnomADv4_1_AC_joint_XX=71721;gnomADv4_1_AC_joint_XY=27664;gnomADv4_1_AF_grpmax_joint=0.97682;gnomADv4_1_AF_joint=0.921716;gnomADv4_1_AF_joint_XX=0.923217;gnomADv4_1_AF_joint_XY=0.91785;gnomADv4_1_AN_grpmax_joint=29465;gnomADv4_1_AN_joint=107826;gnomADv4_1_AN_joint_XX=77686;gnomADv4_1_AN_joint_XY=30140;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=33210;gnomADv4_1_nhomalt_joint_XX=33210;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2884950 chrX_2884950_A_T A T 50 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=2.754;CADD_Rawscore=0.250261;CSQ=T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs59272600|3737|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs59272600|3859|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs59272600|2133|1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs59272600|2132|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs59272600|2132|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs59272600|2132|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs59272600|2132|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs59272600|2132|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs59272600|2132|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs59272600|2132|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs59272600|2132|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs59272600|2132|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs59272600|2132|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs59272600|2132|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs59272600|2132|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs59272600|2132|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs59272600|2132|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs59272600|2132|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs59272600|2132|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs59272600|2132|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs59272600|2132|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2884950A>T|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs59272600|2132|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2884950A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31679;gnomADv4_1_AC_joint_XX=22753;gnomADv4_1_AC_joint_XY=8926;gnomADv4_1_AF_grpmax_joint=0.344257;gnomADv4_1_AF_joint=0.287072;gnomADv4_1_AF_joint_XX=0.292666;gnomADv4_1_AF_joint_XY=0.273737;gnomADv4_1_AN_grpmax_joint=52789;gnomADv4_1_AN_joint=110352;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=32608;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3580;gnomADv4_1_nhomalt_joint_XX=3580;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2885087 chrX_2885087_GC_G GC G 51 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADDIndel_PHREDscore=1.132;CADDIndel_Rawscore=0.014473;CSQ=-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs60837453|3875|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs60837453|3997|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs60837453|2271|1||HGNC|HGNC:4700|2||||||||Ensembl||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs60837453|2270|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs60837453|2270|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs60837453|2270|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs60837453|2270|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs60837453|2270|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs60837453|2270|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs60837453|2270|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs60837453|2270|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs60837453|2270|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs60837453|2270|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs60837453|2270|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs60837453|2270|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs60837453|2270|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs60837453|2270|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs60837453|2270|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs60837453|2270|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs60837453|2270|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs60837453|2270|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||C|C||||chrX:g.2885089del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs60837453|2270|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||C|C||||chrX:g.2885089del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=85628;gnomADv4_1_AC_joint_XX=61354;gnomADv4_1_AC_joint_XY=24274;gnomADv4_1_AF_grpmax_joint=0.90916;gnomADv4_1_AF_joint=0.791445;gnomADv4_1_AF_joint_XX=0.790461;gnomADv4_1_AF_joint_XY=0.793943;gnomADv4_1_AN_grpmax_joint=52389;gnomADv4_1_AN_joint=108192;gnomADv4_1_AN_joint_XX=77618;gnomADv4_1_AN_joint_XY=30574;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25244;gnomADv4_1_nhomalt_joint_XX=25244;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2885235 chrX_2885235_A_G A G 53 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=0.18;CADD_Rawscore=-0.454341;CSQ=G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs5939140|4022|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs5939140|4144|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs5939140|2418|1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs5939140|2417|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs5939140|2417|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs5939140|2417|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs5939140|2417|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs5939140|2417|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs5939140|2417|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs5939140|2417|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs5939140|2417|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs5939140|2417|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs5939140|2417|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs5939140|2417|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs5939140|2417|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs5939140|2417|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs5939140|2417|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs5939140|2417|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs5939140|2417|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs5939140|2417|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs5939140|2417|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2885235A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs5939140|2417|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2885235A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=87441;gnomADv4_1_AC_joint_XX=61925;gnomADv4_1_AC_joint_XY=25516;gnomADv4_1_AF_grpmax_joint=0.914129;gnomADv4_1_AF_joint=0.798162;gnomADv4_1_AF_joint_XX=0.796545;gnomADv4_1_AF_joint_XY=0.802112;gnomADv4_1_AN_grpmax_joint=52637;gnomADv4_1_AN_joint=109553;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=31811;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25637;gnomADv4_1_nhomalt_joint_XX=25637;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2885262 chrX_2885262_A_G A G 50 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=0.376;CADD_Rawscore=-0.264852;CSQ=G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs56019734|4049|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs56019734|4171|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs56019734|2445|1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs56019734|2444|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs56019734|2444|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs56019734|2444|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs56019734|2444|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs56019734|2444|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs56019734|2444|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs56019734|2444|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs56019734|2444|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs56019734|2444|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs56019734|2444|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs56019734|2444|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs56019734|2444|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs56019734|2444|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs56019734|2444|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs56019734|2444|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs56019734|2444|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs56019734|2444|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs56019734|2444|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2885262A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs56019734|2444|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2885262A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=31754;gnomADv4_1_AC_joint_XX=22788;gnomADv4_1_AC_joint_XY=8966;gnomADv4_1_AF_grpmax_joint=0.345285;gnomADv4_1_AF_joint=0.288405;gnomADv4_1_AF_joint_XX=0.293267;gnomADv4_1_AF_joint_XY=0.276745;gnomADv4_1_AN_grpmax_joint=52655;gnomADv4_1_AN_joint=110102;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=32398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3591;gnomADv4_1_nhomalt_joint_XX=3591;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2885346 chrX_2885346_G_A G A 51 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=2.342;CADD_Rawscore=0.206024;CSQ=A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs5939141|4133|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs5939141|4255|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs5939141|2529|1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs5939141|2528|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs5939141|2528|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs5939141|2528|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs5939141|2528|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs5939141|2528|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs5939141|2528|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs5939141|2528|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs5939141|2528|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs5939141|2528|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs5939141|2528|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs5939141|2528|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs5939141|2528|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs5939141|2528|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs5939141|2528|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs5939141|2528|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs5939141|2528|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs5939141|2528|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs5939141|2528|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2885346G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs5939141|2528|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2885346G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54740;gnomADv4_1_AC_joint_XX=38736;gnomADv4_1_AC_joint_XY=16004;gnomADv4_1_AF_grpmax_joint=0.60541;gnomADv4_1_AF_joint=0.502031;gnomADv4_1_AF_joint_XX=0.499368;gnomADv4_1_AF_joint_XY=0.508596;gnomADv4_1_AN_grpmax_joint=10203;gnomADv4_1_AN_joint=109037;gnomADv4_1_AN_joint_XX=77570;gnomADv4_1_AN_joint_XY=31467;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=10164;gnomADv4_1_nhomalt_joint_XX=10164;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2885428 chrX_2885428_T_C T C 53 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=0.452;CADD_Rawscore=-0.218519;CSQ=C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs5939142|4215|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs5939142|4337|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs5939142|2611|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs5939142|2610|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs5939142|2610|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs5939142|2610|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs5939142|2610|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs5939142|2610|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs5939142|2610|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs5939142|2610|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs5939142|2610|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs5939142|2610|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs5939142|2610|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs5939142|2610|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs5939142|2610|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs5939142|2610|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs5939142|2610|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs5939142|2610|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs5939142|2610|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs5939142|2610|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs5939142|2610|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2885428T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs5939142|2610|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2885428T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=85007;gnomADv4_1_AC_joint_XX=61866;gnomADv4_1_AC_joint_XY=23141;gnomADv4_1_AF_grpmax_joint=0.913492;gnomADv4_1_AF_joint=0.800194;gnomADv4_1_AF_joint_XX=0.798518;gnomADv4_1_AF_joint_XY=0.804708;gnomADv4_1_AN_grpmax_joint=51660;gnomADv4_1_AN_joint=106233;gnomADv4_1_AN_joint_XX=77476;gnomADv4_1_AN_joint_XY=28757;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=25622;gnomADv4_1_nhomalt_joint_XX=25622;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2885574 chrX_2885574_CAA_C;chrX_2885574_CA_C CAA C 50 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADDIndel_PHREDscore=0.376;CADDIndel_Rawscore=-0.264778;CSQ=-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs56000388|4362|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs56000388|4484|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs56000388|2758|1||HGNC|HGNC:4700|2||||||||Ensembl||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs56000388|2757|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs56000388|2757|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||AA|AA||||chrX:g.2885590_2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||AA|AA||||chrX:g.2885590_2885591del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21379;gnomADv4_1_AC_joint_XX=18920;gnomADv4_1_AC_joint_XY=2459;gnomADv4_1_AF_grpmax_joint=0.363074;gnomADv4_1_AF_joint=0.321407;gnomADv4_1_AF_joint_XX=0.317866;gnomADv4_1_AF_joint_XY=0.351537;gnomADv4_1_AN_grpmax_joint=36359;gnomADv4_1_AN_joint=66517;gnomADv4_1_AN_joint_XX=59522;gnomADv4_1_AN_joint_XY=6995;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2510;gnomADv4_1_nhomalt_joint_XX=2510;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2885574 chrX_2885574_CAA_C;chrX_2885574_CA_C CA C 50 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=43;CADDIndel_PHREDscore=0.165;CADDIndel_Rawscore=-0.477822;CSQ=-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs56000388|4362|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs56000388|4484|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs56000388|2758|1||HGNC|HGNC:4700|2||||||||Ensembl||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs56000388|2757|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs56000388|2757|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||A|A||||chrX:g.2885591del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs56000388|2757|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||A|A||||chrX:g.2885591del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=33498;gnomADv4_1_AC_joint_XX=30212;gnomADv4_1_AC_joint_XY=3286;gnomADv4_1_AF_grpmax_joint=0.575934;gnomADv4_1_AF_joint=0.507215;gnomADv4_1_AF_joint_XX=0.509838;gnomADv4_1_AF_joint_XY=0.484304;gnomADv4_1_AN_grpmax_joint=5327;gnomADv4_1_AN_joint=66043;gnomADv4_1_AN_joint_XX=59258;gnomADv4_1_AN_joint_XY=6785;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=6754;gnomADv4_1_nhomalt_joint_XX=6754;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2885608 chrX_2885608_AATTAAATC_A AATTAAATC A 42 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADDIndel_PHREDscore=1.019;CADDIndel_Rawscore=-0.012857;CSQ=-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs149990920|4396|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs149990920|4518|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs149990920|2792|1||HGNC|HGNC:4700|2||||||||Ensembl||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs149990920|2791|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs149990920|2791|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs149990920|2791|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs149990920|2791|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs149990920|2791|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs149990920|2791|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs149990920|2791|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs149990920|2791|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs149990920|2791|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs149990920|2791|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs149990920|2791|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs149990920|2791|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs149990920|2791|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs149990920|2791|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs149990920|2791|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs149990920|2791|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs149990920|2791|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs149990920|2791|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs149990920|2791|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||ATTAAATC|ATTAAATC||||chrX:g.2885611_2885618del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=77943;gnomADv4_1_AC_joint_XX=59527;gnomADv4_1_AC_joint_XY=18416;gnomADv4_1_AF_grpmax_joint=0.907463;gnomADv4_1_AF_joint=0.780015;gnomADv4_1_AF_joint_XX=0.791078;gnomADv4_1_AF_joint_XY=0.746282;gnomADv4_1_AN_grpmax_joint=50542;gnomADv4_1_AN_joint=99925;gnomADv4_1_AN_joint_XX=75248;gnomADv4_1_AN_joint_XY=24677;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=24564;gnomADv4_1_nhomalt_joint_XX=24564;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2885647 chrX_2885647_T_G T G 48 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=3.319;CADD_Rawscore=0.304282;CSQ=G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs5939143|4434|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs5939143|4556|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs5939143|2830|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs5939143|2829|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs5939143|2829|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs5939143|2829|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs5939143|2829|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs5939143|2829|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs5939143|2829|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs5939143|2829|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs5939143|2829|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs5939143|2829|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs5939143|2829|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs5939143|2829|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs5939143|2829|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs5939143|2829|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs5939143|2829|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs5939143|2829|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs5939143|2829|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs5939143|2829|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs5939143|2829|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2885647T>G|||||||||||||,G|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs5939143|2829|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2885647T>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82062;gnomADv4_1_AC_joint_XX=60582;gnomADv4_1_AC_joint_XY=21480;gnomADv4_1_AF_grpmax_joint=0.892368;gnomADv4_1_AF_joint=0.783199;gnomADv4_1_AF_joint_XX=0.787393;gnomADv4_1_AF_joint_XY=0.771607;gnomADv4_1_AN_grpmax_joint=51797;gnomADv4_1_AN_joint=104778;gnomADv4_1_AN_joint_XX=76940;gnomADv4_1_AN_joint_XY=27838;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=24717;gnomADv4_1_nhomalt_joint_XX=24717;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2885648 chrX_2885648_T_C T C 43 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=43;CADD_PHREDscore=3.36;CADD_Rawscore=0.30803;CSQ=C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs5939386|4435|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs5939386|4557|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs5939386|2831|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs5939386|2830|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs5939386|2830|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs5939386|2830|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs5939386|2830|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs5939386|2830|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs5939386|2830|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs5939386|2830|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs5939386|2830|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs5939386|2830|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs5939386|2830|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs5939386|2830|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs5939386|2830|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs5939386|2830|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs5939386|2830|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs5939386|2830|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs5939386|2830|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs5939386|2830|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs5939386|2830|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2885648T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs5939386|2830|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2885648T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=41820;gnomADv4_1_AC_joint_XX=30743;gnomADv4_1_AC_joint_XY=11077;gnomADv4_1_AF_grpmax_joint=0.526066;gnomADv4_1_AF_joint=0.389727;gnomADv4_1_AF_joint_XX=0.397566;gnomADv4_1_AF_joint_XY=0.369504;gnomADv4_1_AN_grpmax_joint=211;gnomADv4_1_AN_joint=107306;gnomADv4_1_AN_joint_XX=77328;gnomADv4_1_AN_joint_XY=29978;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=7147;gnomADv4_1_nhomalt_joint_XX=7147;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2885954 chrX_2885954_AT_A AT A 44 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=0.184;CADDIndel_Rawscore=-0.448616;CSQ=-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs34774818|4742|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381157|protein_coding||||||||||rs34774818|4864|1|cds_start_NF&cds_end_NF|HGNC|HGNC:4700|1||ENSP00000370549||J3QSZ3.53|UPI0001E8EF19|||Ensembl||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs34774818|3138|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs34774818|3137|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs34774818|3137|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs34774818|3137|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs34774818|3137|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs34774818|3137|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs34774818|3137|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs34774818|3137|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs34774818|3137|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs34774818|3137|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs34774818|3137|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs34774818|3137|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs34774818|3137|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs34774818|3137|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs34774818|3137|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs34774818|3137|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs34774818|3137|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs34774818|3137|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs34774818|3137|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2885962del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs34774818|3137|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2885962del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000353656,ENST00000381157,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=82794;gnomADv4_1_AC_joint_XX=58482;gnomADv4_1_AC_joint_XY=24312;gnomADv4_1_AF_grpmax_joint=0.842889;gnomADv4_1_AF_joint=0.753858;gnomADv4_1_AF_joint_XX=0.752761;gnomADv4_1_AF_joint_XY=0.756511;gnomADv4_1_AN_grpmax_joint=52689;gnomADv4_1_AN_joint=109827;gnomADv4_1_AN_joint_XX=77690;gnomADv4_1_AN_joint_XY=32137;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=22637;gnomADv4_1_nhomalt_joint_XX=22637;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2886144 chrX_2886144_G_A G A 55 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.455;CADD_Rawscore=-0.216947;CSQ=A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000353656|protein_coding||||||||||rs5018317|4931|1||HGNC|HGNC:4700|5|CCDS55365.1|ENSP00000487294|O15488.204||UPI0000EE42E2|O15488-4||Ensembl||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs5018317|3327|1||HGNC|HGNC:4700|2||||||||Ensembl||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs5018317|3326|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs5018317|3326|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs5018317|3326|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs5018317|3326|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs5018317|3326|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs5018317|3326|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs5018317|3326|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs5018317|3326|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs5018317|3326|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs5018317|3326|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs5018317|3326|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs5018317|3326|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs5018317|3326|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs5018317|3326|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs5018317|3326|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs5018317|3326|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs5018317|3326|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs5018317|3326|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||G|G||||chrX:g.2886144G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs5018317|3326|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||G|G||||chrX:g.2886144G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000353656,ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30928;gnomADv4_1_AC_joint_XX=22037;gnomADv4_1_AC_joint_XY=8891;gnomADv4_1_AF_grpmax_joint=0.33474;gnomADv4_1_AF_joint=0.278854;gnomADv4_1_AF_joint_XX=0.28358;gnomADv4_1_AF_joint_XY=0.267793;gnomADv4_1_AN_grpmax_joint=52826;gnomADv4_1_AN_joint=110911;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=33201;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3362;gnomADv4_1_nhomalt_joint_XX=3362;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2886383 chrX_2886383_CTTTTTT_C;chrX_2886383_C_CTTTTT CTTTTTT C 47 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADDIndel_PHREDscore=0.661;CADDIndel_Rawscore=-0.123438;CSQ=-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs76441193|3567|1||HGNC|HGNC:4700|2||||||||Ensembl||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs76441193|3566|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs76441193|3566|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs76441193|3566|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs76441193|3566|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs76441193|3566|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs76441193|3566|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs76441193|3566|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs76441193|3566|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs76441193|3566|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs76441193|3566|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs76441193|3566|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs76441193|3566|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs76441193|3566|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs76441193|3566|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs76441193|3566|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs76441193|3566|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs76441193|3566|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs76441193|3566|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs76441193|3566|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||TTTTTT|TTTTTT||||chrX:g.2886395_2886400del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29488;gnomADv4_1_AC_joint_XX=21980;gnomADv4_1_AC_joint_XY=7508;gnomADv4_1_AF_grpmax_joint=0.414966;gnomADv4_1_AF_joint=0.326473;gnomADv4_1_AF_joint_XX=0.308059;gnomADv4_1_AF_joint_XY=0.39572;gnomADv4_1_AN_grpmax_joint=147;gnomADv4_1_AN_joint=90323;gnomADv4_1_AN_joint_XX=71350;gnomADv4_1_AN_joint_XY=18973;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=3476;gnomADv4_1_nhomalt_joint_XX=3476;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2886383 chrX_2886383_CTTTTTT_C;chrX_2886383_C_CTTTTT C CTTTTT 47 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=23;CADDIndel_PHREDscore=0.768;CADDIndel_Rawscore=-0.085608;CSQ=TTTTT|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs76441193|3566|1||HGNC|HGNC:4700|2||||||||Ensembl|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs76441193|3565|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs76441193|3565|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs76441193|3565|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs76441193|3565|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs76441193|3565|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs76441193|3565|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs76441193|3565|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs76441193|3565|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs76441193|3565|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs76441193|3565|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs76441193|3565|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs76441193|3565|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs76441193|3565|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs76441193|3565|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs76441193|3565|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs76441193|3565|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs76441193|3565|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs76441193|3565|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq|||||||chrX:g.2886396_2886400dup|||||||||||||,TTTTT|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs76441193|3565|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq|||||||chrX:g.2886396_2886400dup|||||||||||||;TYPE=INDEL;VEP_Allele=TTTTT,TTTTT,TTTTT,TTTTT,TTTTT,TTTTT,TTTTT,TTTTT,TTTTT,TTTTT,TTTTT,TTTTT,TTTTT,TTTTT,TTTTT,TTTTT,TTTTT,TTTTT,TTTTT,TTTTT;VEP_Feature=ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=40826;gnomADv4_1_AC_joint_XX=33823;gnomADv4_1_AC_joint_XY=7003;gnomADv4_1_AF_grpmax_joint=0.52459;gnomADv4_1_AF_joint=0.455841;gnomADv4_1_AF_joint_XX=0.479392;gnomADv4_1_AF_joint_XY=0.368424;gnomADv4_1_AN_grpmax_joint=47397;gnomADv4_1_AN_joint=89562;gnomADv4_1_AN_joint_XX=70554;gnomADv4_1_AN_joint_XY=19008;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8626;gnomADv4_1_nhomalt_joint_XX=8626;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2887483 chrX_2887483_AT_A;chrX_2887483_A_AT AT A 48 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADDIndel_PHREDscore=0.547;CADDIndel_Rawscore=-0.170599;CSQ=-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs199914941|4667|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs199914941|4666|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs199914941|4666|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs199914941|4666|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs199914941|4666|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs199914941|4666|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs199914941|4666|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs199914941|4666|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs199914941|4666|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs199914941|4666|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs199914941|4666|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs199914941|4666|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs199914941|4666|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs199914941|4666|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs199914941|4666|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs199914941|4666|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs199914941|4666|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs199914941|4666|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs199914941|4666|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2887500del|||||||||||||,-|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs199914941|4666|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2887500del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13163;gnomADv4_1_AC_joint_XX=10774;gnomADv4_1_AC_joint_XY=2389;gnomADv4_1_AF_grpmax_joint=0.214841;gnomADv4_1_AF_joint=0.145996;gnomADv4_1_AF_joint_XX=0.149377;gnomADv4_1_AF_joint_XY=0.132472;gnomADv4_1_AN_grpmax_joint=2830;gnomADv4_1_AN_joint=90160;gnomADv4_1_AN_joint_XX=72126;gnomADv4_1_AN_joint_XY=18034;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=944;gnomADv4_1_nhomalt_joint_XX=944;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2887483 chrX_2887483_AT_A;chrX_2887483_A_AT A AT 48 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=33;CADDIndel_PHREDscore=0.761;CADDIndel_Rawscore=-0.087938;CSQ=T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs199914941|4666|1||HGNC|HGNC:4700|2||||||||Ensembl|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs199914941|4665|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs199914941|4665|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs199914941|4665|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs199914941|4665|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs199914941|4665|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs199914941|4665|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs199914941|4665|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs199914941|4665|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs199914941|4665|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs199914941|4665|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs199914941|4665|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs199914941|4665|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs199914941|4665|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs199914941|4665|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs199914941|4665|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs199914941|4665|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs199914941|4665|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs199914941|4665|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq|||||||chrX:g.2887500dup|||||||||||||,T|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs199914941|4665|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq|||||||chrX:g.2887500dup|||||||||||||;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48433;gnomADv4_1_AC_joint_XX=39814;gnomADv4_1_AC_joint_XY=8619;gnomADv4_1_AF_grpmax_joint=0.59752;gnomADv4_1_AF_joint=0.537493;gnomADv4_1_AF_joint_XX=0.55219;gnomADv4_1_AF_joint_XY=0.478647;gnomADv4_1_AN_grpmax_joint=7742;gnomADv4_1_AN_joint=90109;gnomADv4_1_AN_joint_XX=72102;gnomADv4_1_AN_joint_XY=18007;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=11206;gnomADv4_1_nhomalt_joint_XX=11206;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2887745 chrX_2887745_T_C T C 52 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=0.411;CADD_Rawscore=-0.242509;CSQ=C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs211654|4928|1||HGNC|HGNC:4700|2||||||||Ensembl||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs211654|4927|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs211654|4927|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs211654|4927|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs211654|4927|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs211654|4927|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs211654|4927|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs211654|4927|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs211654|4927|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs211654|4927|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs211654|4927|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs211654|4927|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs211654|4927|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs211654|4927|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs211654|4927|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs211654|4927|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs211654|4927|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs211654|4927|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs211654|4927|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq||T|T||||chrX:g.2887745T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs211654|4927|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq||T|T||||chrX:g.2887745T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57330;gnomADv4_1_AC_joint_XX=41525;gnomADv4_1_AC_joint_XY=15805;gnomADv4_1_AF_grpmax_joint=0.671479;gnomADv4_1_AF_joint=0.581859;gnomADv4_1_AF_joint_XX=0.546641;gnomADv4_1_AF_joint_XY=0.700421;gnomADv4_1_AN_grpmax_joint=9074;gnomADv4_1_AN_joint=98529;gnomADv4_1_AN_joint_XX=75964;gnomADv4_1_AN_joint_XY=22565;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=11391;gnomADv4_1_nhomalt_joint_XX=11391;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2887763 chrX_2887763_A_AAAG A AAAG 47 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADDIndel_PHREDscore=0.96;CADDIndel_Rawscore=-0.02836;CSQ=AAG|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381161|protein_coding_CDS_not_defined||||||||||rs113835674|4946|1||HGNC|HGNC:4700|2||||||||Ensembl|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000381163|protein_coding||||||||||rs113835674|4945|1||HGNC|HGNC:4700|1|CCDS14121.1|ENSP00000370555|O15488.204||UPI000049E10B|O15488-1||Ensembl|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|ENSG00000056998|Transcript|ENST00000398806|protein_coding||||||||||rs113835674|4945|1||HGNC|HGNC:4700|1|CCDS48074.1|ENSP00000381786|O15488.204||UPI0000211BD7|O15488-2||Ensembl|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001079855.2|protein_coding||||||||||rs113835674|4945|1||EntrezGene|HGNC:4700|||NP_001073324.1||||||RefSeq|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184702.2|protein_coding||||||||||rs113835674|4945|1||EntrezGene|HGNC:4700|||NP_001171631.1||||||RefSeq|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184703.2|protein_coding||||||||||rs113835674|4945|1||EntrezGene|HGNC:4700|||NP_001171632.1||||||RefSeq|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_001184704.2|protein_coding||||||||||rs113835674|4945|1||EntrezGene|HGNC:4700|||NP_001171633.1||||||RefSeq|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|NM_003918.3|protein_coding||||||||||rs113835674|4945|1||EntrezGene|HGNC:4700|||NP_003909.2||||||RefSeq|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_011545600.3|protein_coding||||||||||rs113835674|4945|1||EntrezGene|HGNC:4700|||XP_011543902.1||||||RefSeq|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029927.2|protein_coding||||||||||rs113835674|4945|1||EntrezGene|HGNC:4700|||XP_016885416.1||||||RefSeq|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029928.2|protein_coding||||||||||rs113835674|4945|1||EntrezGene|HGNC:4700|||XP_016885417.1||||||RefSeq|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029929.2|protein_coding||||||||||rs113835674|4945|1||EntrezGene|HGNC:4700|||XP_016885418.1||||||RefSeq|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029930.2|protein_coding||||||||||rs113835674|4945|1||EntrezGene|HGNC:4700|||XP_016885419.1||||||RefSeq|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_017029931.2|protein_coding||||||||||rs113835674|4945|1||EntrezGene|HGNC:4700|||XP_016885420.1||||||RefSeq|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442608.1|protein_coding||||||||||rs113835674|4945|1||EntrezGene|HGNC:4700|||XP_047298564.1||||||RefSeq|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442609.1|protein_coding||||||||||rs113835674|4945|1||EntrezGene|HGNC:4700|||XP_047298565.1||||||RefSeq|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442610.1|protein_coding||||||||||rs113835674|4945|1||EntrezGene|HGNC:4700|||XP_047298566.1||||||RefSeq|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442611.1|protein_coding||||||||||rs113835674|4945|1||EntrezGene|HGNC:4700|||XP_047298567.1||||||RefSeq|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442612.1|protein_coding||||||||||rs113835674|4945|1||EntrezGene|HGNC:4700|||XP_047298568.1||||||RefSeq|||||||chrX:g.2887775_2887777dup|||||||||||||,AAG|downstream_gene_variant|MODIFIER|GYG2|8908|Transcript|XM_047442613.1|protein_coding||||||||||rs113835674|4945|1||EntrezGene|HGNC:4700|||XP_047298569.1||||||RefSeq|||||||chrX:g.2887775_2887777dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAG,AAG,AAG,AAG,AAG,AAG,AAG,AAG,AAG,AAG,AAG,AAG,AAG,AAG,AAG,AAG,AAG,AAG,AAG,AAG;VEP_Feature=ENST00000381161,ENST00000381163,ENST00000398806,NM_001079855.2,NM_001184702.2,NM_001184703.2,NM_001184704.2,NM_003918.3,XM_011545600.3,XM_017029927.2,XM_017029928.2,XM_017029929.2,XM_017029930.2,XM_017029931.2,XM_047442608.1,XM_047442609.1,XM_047442610.1,XM_047442611.1,XM_047442612.1,XM_047442613.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000056998,ENSG00000056998,ENSG00000056998,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908,8908;VEP_SYMBOL=GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2,GYG2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=94568;gnomADv4_1_AC_joint_XX=70413;gnomADv4_1_AC_joint_XY=24155;gnomADv4_1_AF_grpmax_joint=0.947426;gnomADv4_1_AF_joint=0.911552;gnomADv4_1_AF_joint_XX=0.913316;gnomADv4_1_AF_joint_XY=0.906447;gnomADv4_1_AN_grpmax_joint=28189;gnomADv4_1_AN_joint=103744;gnomADv4_1_AN_joint_XX=77096;gnomADv4_1_AN_joint_XY=26648;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=32230;gnomADv4_1_nhomalt_joint_XX=32230;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2887866 chrX_2887866_C_CAA C CAA 49 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADDIndel_PHREDscore=1.878;CADDIndel_Rawscore=0.147268;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||rs10625423|||||||||||||||||||||chrX:g.2887878_2887879dup|||||||||||||;TYPE=INDEL;VEP_Allele=AA;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=49707;gnomADv4_1_AC_joint_XX=38194;gnomADv4_1_AC_joint_XY=11513;gnomADv4_1_AF_grpmax_joint=0.587796;gnomADv4_1_AF_joint=0.507085;gnomADv4_1_AF_joint_XX=0.51149;gnomADv4_1_AF_joint_XY=0.492999;gnomADv4_1_AN_grpmax_joint=3081;gnomADv4_1_AN_joint=98025;gnomADv4_1_AN_joint_XX=74672;gnomADv4_1_AN_joint_XY=23353;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9962;gnomADv4_1_nhomalt_joint_XX=9962;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2888155 chrX_2888155_G_A G A 52 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=1.926;CADD_Rawscore=0.154001;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs211655|||||||||||||||||||||chrX:g.2888155G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=98529;gnomADv4_1_AC_joint_XX=70454;gnomADv4_1_AC_joint_XY=28075;gnomADv4_1_AF_grpmax_joint=0.97413;gnomADv4_1_AF_joint=0.902909;gnomADv4_1_AF_joint_XX=0.905765;gnomADv4_1_AF_joint_XY=0.89582;gnomADv4_1_AN_grpmax_joint=29996;gnomADv4_1_AN_joint=109124;gnomADv4_1_AN_joint_XX=77784;gnomADv4_1_AN_joint_XY=31340;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=32081;gnomADv4_1_nhomalt_joint_XX=32081;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2888233 chrX_2888233_A_C A C 46 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=46;CADD_PHREDscore=4.408;CADD_Rawscore=0.401609;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs211656|||||||||||||||||||||chrX:g.2888233A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36536;gnomADv4_1_AC_joint_XX=26755;gnomADv4_1_AC_joint_XY=9781;gnomADv4_1_AF_grpmax_joint=0.372142;gnomADv4_1_AF_joint=0.336306;gnomADv4_1_AF_joint_XX=0.344674;gnomADv4_1_AF_joint_XY=0.315364;gnomADv4_1_AN_grpmax_joint=52316;gnomADv4_1_AN_joint=108639;gnomADv4_1_AN_joint_XX=77624;gnomADv4_1_AN_joint_XY=31015;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=4813;gnomADv4_1_nhomalt_joint_XX=4813;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2888548 chrX_2888548_A_G A G 49 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=0.192;CADD_Rawscore=-0.437214;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs211657|||||||||||||||||||||chrX:g.2888548A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=97432;gnomADv4_1_AC_joint_XX=69287;gnomADv4_1_AC_joint_XY=28145;gnomADv4_1_AF_grpmax_joint=0.973096;gnomADv4_1_AF_joint=0.887488;gnomADv4_1_AF_joint_XX=0.890899;gnomADv4_1_AF_joint_XY=0.879202;gnomADv4_1_AN_grpmax_joint=30219;gnomADv4_1_AN_joint=109784;gnomADv4_1_AN_joint_XX=77772;gnomADv4_1_AN_joint_XY=32012;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=31065;gnomADv4_1_nhomalt_joint_XX=31065;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2890783 chrX_2890783_A_G A G 24 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=1.0;AF_XX=.;AF_XY=1.0;AN=1;AN_XX=0;AN_XY=1;AQ=24;CADD_PHREDscore=1.762;CADD_Rawscore=0.130465;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs12843082|||||||||||||||||||||chrX:g.2890783A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=544;gnomADv4_1_AC_joint_XX=525;gnomADv4_1_AC_joint_XY=19;gnomADv4_1_AF_grpmax_joint=0.0273973;gnomADv4_1_AF_joint=0.00743169;gnomADv4_1_AF_joint_XX=0.0106168;gnomADv4_1_AF_joint_XY=0.0008;gnomADv4_1_AN_grpmax_joint=146;gnomADv4_1_AN_joint=73200;gnomADv4_1_AN_joint_XX=49450;gnomADv4_1_AN_joint_XY=23750;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=21;gnomADv4_1_nhomalt_joint_XX=21;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2891325 chrX_2891325_C_G C G 39 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=39;CADD_PHREDscore=1.013;CADD_Rawscore=-0.014391;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs211658|||||||||||||||||||||chrX:g.2891325C>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=103877;gnomADv4_1_AC_joint_XX=75531;gnomADv4_1_AC_joint_XY=28346;gnomADv4_1_AF_grpmax_joint=0.999403;gnomADv4_1_AF_joint=0.972267;gnomADv4_1_AF_joint_XX=0.972586;gnomADv4_1_AF_joint_XY=0.971419;gnomADv4_1_AN_grpmax_joint=3348;gnomADv4_1_AN_joint=106840;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=29180;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=36745;gnomADv4_1_nhomalt_joint_XX=36745;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2891808 chrX_2891808_A_C A C 59 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=59;CADD_PHREDscore=9.522;CADD_Rawscore=0.926673;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_935ZQ|enhancer||||||||||rs6567676|||||||||||||||||||||chrX:g.2891808A>C|||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs6567676|||||||||||||||||||||chrX:g.2891808A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENSRX_935ZQ,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=40964;gnomADv4_1_AC_joint_XX=29001;gnomADv4_1_AC_joint_XY=11963;gnomADv4_1_AF_grpmax_joint=0.668462;gnomADv4_1_AF_joint=0.368683;gnomADv4_1_AF_joint_XX=0.37307;gnomADv4_1_AF_joint_XY=0.358463;gnomADv4_1_AN_grpmax_joint=30446;gnomADv4_1_AN_joint=111109;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=33373;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7033;gnomADv4_1_nhomalt_joint_XX=7033;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2891934 chrX_2891934_T_C T C 58 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=4.025;CADD_Rawscore=0.367412;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_935ZQ|enhancer||||||||||rs6642061|||||||||||||||||||||chrX:g.2891934T>C|||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs6642061|||||||||||||||||||||chrX:g.2891934T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENSRX_935ZQ,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=41181;gnomADv4_1_AC_joint_XX=29073;gnomADv4_1_AC_joint_XY=12108;gnomADv4_1_AF_grpmax_joint=0.673215;gnomADv4_1_AF_joint=0.37018;gnomADv4_1_AF_joint_XX=0.373843;gnomADv4_1_AF_joint_XY=0.36167;gnomADv4_1_AN_grpmax_joint=30540;gnomADv4_1_AN_joint=111246;gnomADv4_1_AN_joint_XX=77768;gnomADv4_1_AN_joint_XY=33478;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7085;gnomADv4_1_nhomalt_joint_XX=7085;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2893144 chrX_2893144_G_A G A 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.496;CADD_Rawscore=-0.19516;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs11796830|||||||||||||||||||||chrX:g.2893144G>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=10635;gnomADv4_1_AC_joint_XX=7544;gnomADv4_1_AC_joint_XY=3091;gnomADv4_1_AF_grpmax_joint=0.220663;gnomADv4_1_AF_joint=0.0957875;gnomADv4_1_AF_joint_XX=0.097009;gnomADv4_1_AF_joint_XY=0.0929317;gnomADv4_1_AN_grpmax_joint=2565;gnomADv4_1_AN_joint=111027;gnomADv4_1_AN_joint_XX=77766;gnomADv4_1_AN_joint_XY=33261;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=521;gnomADv4_1_nhomalt_joint_XX=521;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2893813 chrX_2893813_C_T C T 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=1.191;CADD_Rawscore=0.027586;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs12157024|||||||||||||||||||||chrX:g.2893813C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=21971;gnomADv4_1_AC_joint_XX=16657;gnomADv4_1_AC_joint_XY=5314;gnomADv4_1_AF_grpmax_joint=0.445475;gnomADv4_1_AF_joint=0.220177;gnomADv4_1_AF_joint_XX=0.220728;gnomADv4_1_AF_joint_XY=0.218467;gnomADv4_1_AN_grpmax_joint=3127;gnomADv4_1_AN_joint=99788;gnomADv4_1_AN_joint_XX=75464;gnomADv4_1_AN_joint_XY=24324;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2026;gnomADv4_1_nhomalt_joint_XX=2026;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2893972 chrX_2893972_T_TATATAC T TATATAC 37 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=37;CADDIndel_PHREDscore=1.028;CADDIndel_Rawscore=-0.010754;CSQ=ATATAC|intergenic_variant|MODIFIER|||||||||||||||rs774373544|||||||||||||||||||||chrX:g.2893973_2893974insTATACA|||||||||||||;TYPE=INDEL;VEP_Allele=ATATAC;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=3892;gnomADv4_1_AC_joint_XX=3643;gnomADv4_1_AC_joint_XY=249;gnomADv4_1_AF_grpmax_joint=0.0825036;gnomADv4_1_AF_joint=0.0476266;gnomADv4_1_AF_joint_XX=0.0555098;gnomADv4_1_AF_joint_XY=0.0154745;gnomADv4_1_AN_grpmax_joint=1406;gnomADv4_1_AN_joint=81719;gnomADv4_1_AN_joint_XX=65628;gnomADv4_1_AN_joint_XY=16091;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=149;gnomADv4_1_nhomalt_joint_XX=149;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2893995 chrX_2893995_A_ATG A ATG 21 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=21;CADDIndel_PHREDscore=1.109;CADDIndel_Rawscore=0.009138;CSQ=TG|intergenic_variant|MODIFIER|||||||||||||||rs753073154|||||||||||||||||||||chrX:g.2894021_2894022dup|||||||||||||;TYPE=INDEL;VEP_Allele=TG;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=1812;gnomADv4_1_AC_joint_XX=1637;gnomADv4_1_AC_joint_XY=175;gnomADv4_1_AF_grpmax_joint=0.0654315;gnomADv4_1_AF_joint=0.0211791;gnomADv4_1_AF_joint_XX=0.0241381;gnomADv4_1_AF_joint_XY=0.00986582;gnomADv4_1_AN_grpmax_joint=22237;gnomADv4_1_AN_joint=85556;gnomADv4_1_AN_joint_XX=67818;gnomADv4_1_AN_joint_XY=17738;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=64;gnomADv4_1_nhomalt_joint_XX=64;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2894400 chrX_2894400_T_A T A 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=0.462;CADD_Rawscore=-0.212687;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs5982909|||||||||||||||||||||chrX:g.2894400T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=26118;gnomADv4_1_AC_joint_XX=18574;gnomADv4_1_AC_joint_XY=7544;gnomADv4_1_AF_grpmax_joint=0.453614;gnomADv4_1_AF_joint=0.23696;gnomADv4_1_AF_joint_XX=0.239035;gnomADv4_1_AF_joint_XY=0.232002;gnomADv4_1_AN_grpmax_joint=3417;gnomADv4_1_AN_joint=110221;gnomADv4_1_AN_joint_XX=77704;gnomADv4_1_AN_joint_XY=32517;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2415;gnomADv4_1_nhomalt_joint_XX=2415;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2895246 chrX_2895246_T_C T C 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=4.372;CADD_Rawscore=0.398355;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_9362N|enhancer||||||||||rs5982606|||||||||||||||||||||chrX:g.2895246T>C|||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs5982606|||||||||||||||||||||chrX:g.2895246T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENSRX_9362N,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=39889;gnomADv4_1_AC_joint_XX=28360;gnomADv4_1_AC_joint_XY=11529;gnomADv4_1_AF_grpmax_joint=0.667095;gnomADv4_1_AF_joint=0.360464;gnomADv4_1_AF_joint_XX=0.364947;gnomADv4_1_AF_joint_XY=0.349894;gnomADv4_1_AN_grpmax_joint=30354;gnomADv4_1_AN_joint=110660;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=32950;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6864;gnomADv4_1_nhomalt_joint_XX=6864;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2895634 chrX_2895634_CAAAAAAAAAAAAAAAAAAAAAAAA_C CAAAAAAAAAAAAAAAAAAAAAAAA C 12 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=12;CADDIndel_PHREDscore=0.848;CADDIndel_Rawscore=-0.060304;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs58945732|||||||||||||||||||||chrX:g.2895655_2895678del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=4891;gnomADv4_1_AC_joint_XX=4662;gnomADv4_1_AC_joint_XY=229;gnomADv4_1_AF_grpmax_joint=0.307918;gnomADv4_1_AF_joint=0.157095;gnomADv4_1_AF_joint_XX=0.158291;gnomADv4_1_AF_joint_XY=0.136147;gnomADv4_1_AN_grpmax_joint=341;gnomADv4_1_AN_joint=31134;gnomADv4_1_AN_joint_XX=29452;gnomADv4_1_AN_joint_XY=1682;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=303;gnomADv4_1_nhomalt_joint_XX=303;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2895719 chrX_2895719_A_G A G 39 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=39;CADD_PHREDscore=0.937;CADD_Rawscore=-0.034678;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs7876446|||||||||||||||||||||chrX:g.2895719A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36357;gnomADv4_1_AC_joint_XX=27513;gnomADv4_1_AC_joint_XY=8844;gnomADv4_1_AF_grpmax_joint=0.687491;gnomADv4_1_AF_joint=0.376335;gnomADv4_1_AF_joint_XX=0.373981;gnomADv4_1_AF_joint_XY=0.383854;gnomADv4_1_AN_grpmax_joint=26748;gnomADv4_1_AN_joint=96608;gnomADv4_1_AN_joint_XX=73568;gnomADv4_1_AN_joint_XY=23040;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6698;gnomADv4_1_nhomalt_joint_XX=6698;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2895724 chrX_2895724_T_C T C 41 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=41;CADD_PHREDscore=1.532;CADD_Rawscore=0.093621;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs113583889|||||||||||||||||||||chrX:g.2895724T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36451;gnomADv4_1_AC_joint_XX=27519;gnomADv4_1_AC_joint_XY=8932;gnomADv4_1_AF_grpmax_joint=0.693675;gnomADv4_1_AF_joint=0.384805;gnomADv4_1_AF_joint_XX=0.37881;gnomADv4_1_AF_joint_XY=0.404529;gnomADv4_1_AN_grpmax_joint=26547;gnomADv4_1_AN_joint=94726;gnomADv4_1_AN_joint_XX=72646;gnomADv4_1_AN_joint_XY=22080;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6650;gnomADv4_1_nhomalt_joint_XX=6650;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2895729 chrX_2895729_T_C T C 43 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=43;CADD_PHREDscore=2.27;CADD_Rawscore=0.197617;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs12383694|||||||||||||||||||||chrX:g.2895729T>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=36070;gnomADv4_1_AC_joint_XX=27063;gnomADv4_1_AC_joint_XY=9007;gnomADv4_1_AF_grpmax_joint=0.691739;gnomADv4_1_AF_joint=0.400662;gnomADv4_1_AF_joint_XX=0.387722;gnomADv4_1_AF_joint_XY=0.445318;gnomADv4_1_AN_grpmax_joint=25952;gnomADv4_1_AN_joint=90026;gnomADv4_1_AN_joint_XX=69800;gnomADv4_1_AN_joint_XY=20226;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6349;gnomADv4_1_nhomalt_joint_XX=6349;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2895735 chrX_2895735_A_G A G 42 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADD_PHREDscore=2.077;CADD_Rawscore=0.173975;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs7876451|||||||||||||||||||||chrX:g.2895735A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=37034;gnomADv4_1_AC_joint_XX=27706;gnomADv4_1_AC_joint_XY=9328;gnomADv4_1_AF_grpmax_joint=0.672969;gnomADv4_1_AF_joint=0.361075;gnomADv4_1_AF_joint_XX=0.363653;gnomADv4_1_AF_joint_XY=0.353628;gnomADv4_1_AN_grpmax_joint=27872;gnomADv4_1_AN_joint=102566;gnomADv4_1_AN_joint_XX=76188;gnomADv4_1_AN_joint_XY=26378;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6749;gnomADv4_1_nhomalt_joint_XX=6749;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2895813 chrX_2895813_T_A T A 45 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADD_PHREDscore=1.161;CADD_Rawscore=0.021079;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs6642063|||||||||||||||||||||chrX:g.2895813T>A|||||||||||||;TYPE=SNP;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38112;gnomADv4_1_AC_joint_XX=27652;gnomADv4_1_AC_joint_XY=10460;gnomADv4_1_AF_grpmax_joint=0.650427;gnomADv4_1_AF_joint=0.36093;gnomADv4_1_AF_joint_XX=0.359378;gnomADv4_1_AF_joint_XY=0.365096;gnomADv4_1_AN_grpmax_joint=29127;gnomADv4_1_AN_joint=105594;gnomADv4_1_AN_joint_XX=76944;gnomADv4_1_AN_joint_XY=28650;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6464;gnomADv4_1_nhomalt_joint_XX=6464;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2895877 chrX_2895877_A_G A G 45 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADD_PHREDscore=2.487;CADD_Rawscore=0.222249;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs6567679|||||||||||||||||||||chrX:g.2895877A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38502;gnomADv4_1_AC_joint_XX=28203;gnomADv4_1_AC_joint_XY=10299;gnomADv4_1_AF_grpmax_joint=0.669031;gnomADv4_1_AF_joint=0.359825;gnomADv4_1_AF_joint_XX=0.364465;gnomADv4_1_AF_joint_XY=0.347704;gnomADv4_1_AN_grpmax_joint=29184;gnomADv4_1_AN_joint=107002;gnomADv4_1_AN_joint_XX=77382;gnomADv4_1_AN_joint_XY=29620;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6833;gnomADv4_1_nhomalt_joint_XX=6833;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2895923 chrX_2895923_A_G A G 51 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=0.384;CADD_Rawscore=-0.259563;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs6567680|||||||||||||||||||||chrX:g.2895923A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38827;gnomADv4_1_AC_joint_XX=28164;gnomADv4_1_AC_joint_XY=10663;gnomADv4_1_AF_grpmax_joint=0.66721;gnomADv4_1_AF_joint=0.359692;gnomADv4_1_AF_joint_XX=0.364074;gnomADv4_1_AF_joint_XY=0.348612;gnomADv4_1_AN_grpmax_joint=29463;gnomADv4_1_AN_joint=107945;gnomADv4_1_AN_joint_XX=77358;gnomADv4_1_AN_joint_XY=30587;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6811;gnomADv4_1_nhomalt_joint_XX=6811;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2895942 chrX_2895942_TG_T TG T 35 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=35;CADDIndel_PHREDscore=1.525;CADDIndel_Rawscore=0.09248;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs778716004|||||||||||||||||||||chrX:g.2895945del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38134;gnomADv4_1_AC_joint_XX=27596;gnomADv4_1_AC_joint_XY=10538;gnomADv4_1_AF_grpmax_joint=0.638686;gnomADv4_1_AF_joint=0.349725;gnomADv4_1_AF_joint_XX=0.356041;gnomADv4_1_AF_joint_XY=0.3342;gnomADv4_1_AN_grpmax_joint=29675;gnomADv4_1_AN_joint=109040;gnomADv4_1_AN_joint_XX=77508;gnomADv4_1_AN_joint_XY=31532;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6432;gnomADv4_1_nhomalt_joint_XX=6432;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2895947 chrX_2895947_A_G A G 39 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=39;CADD_PHREDscore=5.068;CADD_Rawscore=0.46219;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs190635705|||||||||||||||||||||chrX:g.2895947A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38120;gnomADv4_1_AC_joint_XX=27595;gnomADv4_1_AC_joint_XY=10525;gnomADv4_1_AF_grpmax_joint=0.638055;gnomADv4_1_AF_joint=0.349673;gnomADv4_1_AF_joint_XX=0.356074;gnomADv4_1_AF_joint_XY=0.333936;gnomADv4_1_AN_grpmax_joint=29673;gnomADv4_1_AN_joint=109016;gnomADv4_1_AN_joint_XX=77498;gnomADv4_1_AN_joint_XY=31518;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6433;gnomADv4_1_nhomalt_joint_XX=6433;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2895952 chrX_2895952_A_G A G 45 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADD_PHREDscore=0.837;CADD_Rawscore=-0.063492;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs765788947|||||||||||||||||||||chrX:g.2895952A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38167;gnomADv4_1_AC_joint_XX=27611;gnomADv4_1_AC_joint_XY=10556;gnomADv4_1_AF_grpmax_joint=0.638842;gnomADv4_1_AF_joint=0.350079;gnomADv4_1_AF_joint_XX=0.356197;gnomADv4_1_AF_joint_XY=0.335026;gnomADv4_1_AN_grpmax_joint=29674;gnomADv4_1_AN_joint=109024;gnomADv4_1_AN_joint_XX=77516;gnomADv4_1_AN_joint_XY=31508;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6441;gnomADv4_1_nhomalt_joint_XX=6441;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2895954 chrX_2895954_C_T C T 42 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADD_PHREDscore=1.234;CADD_Rawscore=0.037011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs12382383|||||||||||||||||||||chrX:g.2895954C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38152;gnomADv4_1_AC_joint_XX=27605;gnomADv4_1_AC_joint_XY=10547;gnomADv4_1_AF_grpmax_joint=0.639449;gnomADv4_1_AF_joint=0.350775;gnomADv4_1_AF_joint_XX=0.356267;gnomADv4_1_AF_joint_XY=0.33717;gnomADv4_1_AN_grpmax_joint=29613;gnomADv4_1_AN_joint=108765;gnomADv4_1_AN_joint_XX=77484;gnomADv4_1_AN_joint_XY=31281;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6436;gnomADv4_1_nhomalt_joint_XX=6436;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2895968 chrX_2895968_AAAATAAAT_A AAAATAAAT A 32 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=32;CADDIndel_PHREDscore=1.146;CADDIndel_Rawscore=0.01752;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs201056065|||||||||||||||||||||chrX:g.2895978_2895985del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38166;gnomADv4_1_AC_joint_XX=27598;gnomADv4_1_AC_joint_XY=10568;gnomADv4_1_AF_grpmax_joint=0.638302;gnomADv4_1_AF_joint=0.349262;gnomADv4_1_AF_joint_XX=0.355938;gnomADv4_1_AF_joint_XY=0.332955;gnomADv4_1_AN_grpmax_joint=29732;gnomADv4_1_AN_joint=109276;gnomADv4_1_AN_joint_XX=77536;gnomADv4_1_AN_joint_XY=31740;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6432;gnomADv4_1_nhomalt_joint_XX=6432;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2896119 chrX_2896119_C_T C T 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=0.661;CADD_Rawscore=-0.123334;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||rs6642064|||||||||||||||||||||chrX:g.2896119C>T|||||||||||||;TYPE=SNP;VEP_Allele=T;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=38153;gnomADv4_1_AC_joint_XX=27457;gnomADv4_1_AC_joint_XY=10696;gnomADv4_1_AF_grpmax_joint=0.641414;gnomADv4_1_AF_joint=0.349521;gnomADv4_1_AF_joint_XX=0.353381;gnomADv4_1_AF_joint_XY=0.339987;gnomADv4_1_AN_grpmax_joint=29898;gnomADv4_1_AN_joint=109158;gnomADv4_1_AN_joint_XX=77698;gnomADv4_1_AN_joint_XY=31460;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6416;gnomADv4_1_nhomalt_joint_XX=6416;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2896613 chrX_2896613_C_CA C CA 44 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=6.216;CADDIndel_Rawscore=0.575164;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs773896764|||||||||||||||||||||chrX:g.2896630dup|||||||||||||;TYPE=INDEL;VEP_Allele=A;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=23385;gnomADv4_1_AC_joint_XX=21284;gnomADv4_1_AC_joint_XY=2101;gnomADv4_1_AF_grpmax_joint=0.660788;gnomADv4_1_AF_joint=0.384085;gnomADv4_1_AF_joint_XX=0.412785;gnomADv4_1_AF_joint_XY=0.225357;gnomADv4_1_AN_grpmax_joint=17520;gnomADv4_1_AN_joint=60885;gnomADv4_1_AN_joint_XX=51562;gnomADv4_1_AN_joint_XY=9323;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=4745;gnomADv4_1_nhomalt_joint_XX=4745;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2896887 chrX_2896887_A_G A G 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.782;CADD_Rawscore=-0.081045;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs5939387|||||||||||||||||||||chrX:g.2896887A>G|||||||||||||;TYPE=SNP;VEP_Allele=G;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=35824;gnomADv4_1_AC_joint_XX=25991;gnomADv4_1_AC_joint_XY=9833;gnomADv4_1_AF_grpmax_joint=0.564088;gnomADv4_1_AF_joint=0.330236;gnomADv4_1_AF_joint_XX=0.335082;gnomADv4_1_AF_joint_XY=0.318076;gnomADv4_1_AN_grpmax_joint=29717;gnomADv4_1_AN_joint=108480;gnomADv4_1_AN_joint_XX=77566;gnomADv4_1_AN_joint_XY=30914;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=5413;gnomADv4_1_nhomalt_joint_XX=5413;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2896888 chrX_2896888_G_C G C 53 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=2.601;CADD_Rawscore=0.234548;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs184132489|||||||||||||||||||||chrX:g.2896888G>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=12742;gnomADv4_1_AC_joint_XX=9220;gnomADv4_1_AC_joint_XY=3522;gnomADv4_1_AF_grpmax_joint=0.223379;gnomADv4_1_AF_joint=0.116564;gnomADv4_1_AF_joint_XX=0.11872;gnomADv4_1_AF_joint_XY=0.111276;gnomADv4_1_AN_grpmax_joint=2498;gnomADv4_1_AN_joint=109313;gnomADv4_1_AN_joint_XX=77662;gnomADv4_1_AN_joint_XY=31651;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=625;gnomADv4_1_nhomalt_joint_XX=625;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2897146 chrX_2897146_A_C A C 50 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=0.865;CADD_Rawscore=-0.055185;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||rs5939389|||||||||||||||||||||chrX:g.2897146A>C|||||||||||||;TYPE=SNP;VEP_Allele=C;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=39765;gnomADv4_1_AC_joint_XX=29366;gnomADv4_1_AC_joint_XY=10399;gnomADv4_1_AF_grpmax_joint=0.675534;gnomADv4_1_AF_joint=0.374146;gnomADv4_1_AF_joint_XX=0.38027;gnomADv4_1_AF_joint_XY=0.35787;gnomADv4_1_AN_grpmax_joint=28906;gnomADv4_1_AN_joint=106282;gnomADv4_1_AN_joint_XX=77224;gnomADv4_1_AN_joint_XY=29058;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=7286;gnomADv4_1_nhomalt_joint_XX=7286;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2897923 chrX_2897923_C_T C T 42 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADD_PHREDscore=2.666;CADD_Rawscore=0.241325;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C9QM|enhancer||||||||||rs149319890|||||||||||||||||||||chrX:g.2897923C>T|||||||||||||,T|intergenic_variant|MODIFIER|||||||||||||||rs149319890|||||||||||||||||||||chrX:g.2897923C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T;VEP_Feature=ENSRX_C9QM,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=2286;gnomADv4_1_AC_joint_XX=1659;gnomADv4_1_AC_joint_XY=627;gnomADv4_1_AF_grpmax_joint=0.0414747;gnomADv4_1_AF_joint=0.0204896;gnomADv4_1_AF_joint_XX=0.0213206;gnomADv4_1_AF_joint_XY=0.0185739;gnomADv4_1_AN_grpmax_joint=217;gnomADv4_1_AN_joint=111569;gnomADv4_1_AN_joint_XX=77812;gnomADv4_1_AN_joint_XY=33757;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=27;gnomADv4_1_nhomalt_joint_XX=27;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2898041 chrX_2898041_T_C T C 54 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.793;CADD_Rawscore=-0.07742;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C9QM|enhancer||||||||||rs5939390|||||||||||||||||||||chrX:g.2898041T>C|||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||rs5939390|||||||||||||||||||||chrX:g.2898041T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C;VEP_Feature=ENSRX_C9QM,.;VEP_Feature_type=RegulatoryFeature,.;VEP_Gene=.,.;VEP_SYMBOL=.,.;VEP_existing_InFrame_oORFs=.,.;VEP_existing_OutOfFrame_oORFs=.,.;VEP_existing_uORFs=.,.;VEP_five_prime_UTR_variant_annotation=.,.;VEP_five_prime_UTR_variant_consequence=.,.;gnomADv4_1_AC_joint=45071;gnomADv4_1_AC_joint_XX=32030;gnomADv4_1_AC_joint_XY=13041;gnomADv4_1_AF_grpmax_joint=0.61554;gnomADv4_1_AF_joint=0.407528;gnomADv4_1_AF_joint_XX=0.412014;gnomADv4_1_AF_joint_XY=0.396914;gnomADv4_1_AN_grpmax_joint=3462;gnomADv4_1_AN_joint=110596;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=32856;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6976;gnomADv4_1_nhomalt_joint_XX=6976;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2900323 chrX_2900323_G_A G A 33 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=33;CADD_PHREDscore=1.376;CADD_Rawscore=0.065375;CSQ=A|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||||||||||rs758725450|3649|-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||G|G||||chrX:g.2900323G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD-AS1|ENSG00000229851|Transcript|ENST00000414053|lncRNA||||||||||rs758725450|4581|1||HGNC|HGNC:40085|2||||||||Ensembl||G|G||||chrX:g.2900323G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000458014|protein_coding||||||||||rs758725450|4595|-1|cds_start_NF|HGNC|HGNC:717|3||ENSP00000409180||H7C327.64|UPI000059DAB2|||Ensembl||G|G||||chrX:g.2900323G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||||||||||rs758725450|3649|-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||G|G||||chrX:g.2900323G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD-AS1|100506356|Transcript|NR_144459.1|lncRNA||||||||||rs758725450|4581|1||EntrezGene|HGNC:40085|||||||||RefSeq||G|G||||chrX:g.2900323G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||||||||||rs758725450|3649|-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||G|G||||chrX:g.2900323G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||||||||||rs758725450|3649|-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||G|G||||chrX:g.2900323G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||||||||||rs758725450|3649|-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||G|G||||chrX:g.2900323G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381154,ENST00000414053,ENST00000458014,NM_001669.4,NR_144459.1,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000229851,ENSG00000006756,414,100506356,414,414,414;VEP_SYMBOL=ARSD,ARSD-AS1,ARSD,ARSD,ARSD-AS1,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=93;gnomADv4_1_AC_joint_XX=73;gnomADv4_1_AC_joint_XY=20;gnomADv4_1_AF_grpmax_joint=0.000181951;gnomADv4_1_AF_joint=0.000949076;gnomADv4_1_AF_joint_XX=0.000980024;gnomADv4_1_AF_joint_XY=0.000850991;gnomADv4_1_AN_grpmax_joint=49464;gnomADv4_1_AN_joint=97990;gnomADv4_1_AN_joint_XX=74488;gnomADv4_1_AN_joint_XY=23502;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=1;gnomADv4_1_nhomalt_joint_XX=1;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2903937 chrX_2903937_A_C A C 52 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=0.472;CADD_Rawscore=-0.207391;CSQ=C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||||||||||rs4141210|35|-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||A|A||||chrX:g.2903937A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD-AS1|ENSG00000229851|Transcript|ENST00000414053|lncRNA||||||||||rs4141210|967|1||HGNC|HGNC:40085|2||||||||Ensembl||A|A||||chrX:g.2903937A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000458014|protein_coding||||||||||rs4141210|981|-1|cds_start_NF|HGNC|HGNC:717|3||ENSP00000409180||H7C327.64|UPI000059DAB2|||Ensembl||A|A||||chrX:g.2903937A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||||||||||rs4141210|2219|-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2903937A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||||||||||rs4141210|35|-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||A|A||||chrX:g.2903937A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD-AS1|100506356|Transcript|NR_144459.1|lncRNA||||||||||rs4141210|967|1||EntrezGene|HGNC:40085|||||||||RefSeq||A|A||||chrX:g.2903937A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||||||||||rs4141210|35|-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||A|A||||chrX:g.2903937A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||||||||||rs4141210|35|-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||A|A||||chrX:g.2903937A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||||||||||rs4141210|35|-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||A|A||||chrX:g.2903937A>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381154,ENST00000414053,ENST00000458014,ENST00000495294,NM_001669.4,NR_144459.1,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000229851,ENSG00000006756,ENSG00000006756,414,100506356,414,414,414;VEP_SYMBOL=ARSD,ARSD-AS1,ARSD,ARSD,ARSD,ARSD-AS1,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=27144;gnomADv4_1_AC_joint_XX=19662;gnomADv4_1_AC_joint_XY=7482;gnomADv4_1_AF_grpmax_joint=0.271506;gnomADv4_1_AF_joint=0.247281;gnomADv4_1_AF_joint_XX=0.253161;gnomADv4_1_AF_joint_XY=0.233055;gnomADv4_1_AN_grpmax_joint=10276;gnomADv4_1_AN_joint=109770;gnomADv4_1_AN_joint_XX=77666;gnomADv4_1_AN_joint_XY=32104;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=2459;gnomADv4_1_nhomalt_joint_XX=2459;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2903938 chrX_2903938_G_T G T 53 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=0.91;CADD_Rawscore=-0.042265;CSQ=T|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||||||||||rs4141211|34|-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||G|G||||chrX:g.2903938G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ARSD-AS1|ENSG00000229851|Transcript|ENST00000414053|lncRNA||||||||||rs4141211|966|1||HGNC|HGNC:40085|2||||||||Ensembl||G|G||||chrX:g.2903938G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000458014|protein_coding||||||||||rs4141211|980|-1|cds_start_NF|HGNC|HGNC:717|3||ENSP00000409180||H7C327.64|UPI000059DAB2|||Ensembl||G|G||||chrX:g.2903938G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||||||||||rs4141211|2218|-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2903938G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||||||||||rs4141211|34|-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||G|G||||chrX:g.2903938G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ARSD-AS1|100506356|Transcript|NR_144459.1|lncRNA||||||||||rs4141211|966|1||EntrezGene|HGNC:40085|||||||||RefSeq||G|G||||chrX:g.2903938G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||||||||||rs4141211|34|-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||G|G||||chrX:g.2903938G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||||||||||rs4141211|34|-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||G|G||||chrX:g.2903938G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||||||||||rs4141211|34|-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||G|G||||chrX:g.2903938G>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381154,ENST00000414053,ENST00000458014,ENST00000495294,NM_001669.4,NR_144459.1,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000229851,ENSG00000006756,ENSG00000006756,414,100506356,414,414,414;VEP_SYMBOL=ARSD,ARSD-AS1,ARSD,ARSD,ARSD,ARSD-AS1,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=21744;gnomADv4_1_AC_joint_XX=15660;gnomADv4_1_AC_joint_XY=6084;gnomADv4_1_AF_grpmax_joint=0.252991;gnomADv4_1_AF_joint=0.197847;gnomADv4_1_AF_joint_XX=0.201596;gnomADv4_1_AF_joint_XY=0.188809;gnomADv4_1_AN_grpmax_joint=10281;gnomADv4_1_AN_joint=109903;gnomADv4_1_AN_joint_XX=77680;gnomADv4_1_AN_joint_XY=32223;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1671;gnomADv4_1_nhomalt_joint_XX=1671;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2908252 chrX_2908252_A_G A G 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=3.595;CADD_Rawscore=0.32922;CSQ=G|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||9/9|ENST00000381154.6:c.1420+469T>C|||||||rs4892907||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||A|A||||chrX:g.2908252A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSD-AS1|ENSG00000229851|Transcript|ENST00000414053|lncRNA||||||||||rs4892907|2171|1||HGNC|HGNC:40085|2||||||||Ensembl||A|A||||chrX:g.2908252A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000458014|protein_coding||2/3|ENST00000458014.1:c.226+469T>C|||||||rs4892907||-1|cds_start_NF|HGNC|HGNC:717|3||ENSP00000409180||H7C327.64|UPI000059DAB2|||Ensembl||A|A||||chrX:g.2908252A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||2/2|ENST00000495294.1:n.204-268T>C|||||||rs4892907||-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2908252A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||9/9|NM_001669.4:c.1420+469T>C|||||||rs4892907||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||A|A||||chrX:g.2908252A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSD-AS1|100506356|Transcript|NR_144459.1|lncRNA||||||||||rs4892907|2130|1||EntrezGene|HGNC:40085|||||||||RefSeq||A|A||||chrX:g.2908252A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||8/8|XM_005274514.3:c.1285+469T>C|||||||rs4892907||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||A|A||||chrX:g.2908252A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||9/9|XM_005274515.3:c.1421-268T>C|||||||rs4892907||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||A|A||||chrX:g.2908252A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||9/9|XM_047442108.1:c.1282+469T>C|||||||rs4892907||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||A|A||||chrX:g.2908252A>G|||||||||||||;SpliceAI=G|ARSD|0.00|0.00|0.00|0.00|-23|-18|-17|-1;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381154,ENST00000414053,ENST00000458014,ENST00000495294,NM_001669.4,NR_144459.1,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000229851,ENSG00000006756,ENSG00000006756,414,100506356,414,414,414;VEP_SYMBOL=ARSD,ARSD-AS1,ARSD,ARSD,ARSD,ARSD-AS1,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=24008;gnomADv4_1_AC_joint_XX=17409;gnomADv4_1_AC_joint_XY=6599;gnomADv4_1_AF_grpmax_joint=0.290332;gnomADv4_1_AF_joint=0.22358;gnomADv4_1_AF_joint_XX=0.229495;gnomADv4_1_AF_joint_XY=0.209346;gnomADv4_1_AN_grpmax_joint=10178;gnomADv4_1_AN_joint=107380;gnomADv4_1_AN_joint_XX=75858;gnomADv4_1_AN_joint_XY=31522;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1943;gnomADv4_1_nhomalt_joint_XX=1943;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2908534 chrX_2908534_T_TCC T TCC 28 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=28;CADDIndel_PHREDscore=0.148;CADDIndel_Rawscore=-0.506681;CSQ=CC|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||9/9|ENST00000381154.6:c.1420+185_1420+186dup|||||||rs369116749||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl|||||||chrX:g.2908542_2908543dup|||||||||||||,CC|downstream_gene_variant|MODIFIER|ARSD-AS1|ENSG00000229851|Transcript|ENST00000414053|lncRNA||||||||||rs369116749|2453|1||HGNC|HGNC:40085|2||||||||Ensembl|||||||chrX:g.2908542_2908543dup|||||||||||||,CC|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000458014|protein_coding||2/3|ENST00000458014.1:c.226+185_226+186dup|||||||rs369116749||-1|cds_start_NF|HGNC|HGNC:717|3||ENSP00000409180||H7C327.64|UPI000059DAB2|||Ensembl|||||||chrX:g.2908542_2908543dup|||||||||||||,CC|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||2/2|ENST00000495294.1:n.203+185_203+186dup|||||||rs369116749||-1||HGNC|HGNC:717|2||||||||Ensembl|||||||chrX:g.2908542_2908543dup|||||||||||||,CC|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||9/9|NM_001669.4:c.1420+185_1420+186dup|||||||rs369116749||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq|||||||chrX:g.2908542_2908543dup|||||||||||||,CC|downstream_gene_variant|MODIFIER|ARSD-AS1|100506356|Transcript|NR_144459.1|lncRNA||||||||||rs369116749|2412|1||EntrezGene|HGNC:40085|||||||||RefSeq|||||||chrX:g.2908542_2908543dup|||||||||||||,CC|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||8/8|XM_005274514.3:c.1285+185_1285+186dup|||||||rs369116749||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq|||||||chrX:g.2908542_2908543dup|||||||||||||,CC|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||9/9|XM_005274515.3:c.1420+185_1420+186dup|||||||rs369116749||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq|||||||chrX:g.2908542_2908543dup|||||||||||||,CC|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||9/9|XM_047442108.1:c.1282+185_1282+186dup|||||||rs369116749||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq|||||||chrX:g.2908542_2908543dup|||||||||||||;TYPE=INDEL;VEP_Allele=CC,CC,CC,CC,CC,CC,CC,CC,CC;VEP_Feature=ENST00000381154,ENST00000414053,ENST00000458014,ENST00000495294,NM_001669.4,NR_144459.1,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000229851,ENSG00000006756,ENSG00000006756,414,100506356,414,414,414;VEP_SYMBOL=ARSD,ARSD-AS1,ARSD,ARSD,ARSD,ARSD-AS1,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8946;gnomADv4_1_AC_joint_XX=8459;gnomADv4_1_AC_joint_XY=487;gnomADv4_1_AF_grpmax_joint=0.146523;gnomADv4_1_AF_joint=0.107015;gnomADv4_1_AF_joint_XX=0.129612;gnomADv4_1_AF_joint_XY=0.0265656;gnomADv4_1_AN_grpmax_joint=44225;gnomADv4_1_AN_joint=83596;gnomADv4_1_AN_joint_XX=65264;gnomADv4_1_AN_joint_XY=18332;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=688;gnomADv4_1_nhomalt_joint_XX=688;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2909330 chrX_2909330_G_A G A 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=2.198;CADD_Rawscore=0.189072;CSQ=A|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||||||||||rs4892908|4284|-1||HGNC|HGNC:717|1||||||||Ensembl||G|G||||chrX:g.2909330G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||8/9|ENST00000381154.6:c.1298+487C>T|||||||rs4892908||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||G|G||||chrX:g.2909330G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSD-AS1|ENSG00000229851|Transcript|ENST00000414053|lncRNA||||||||||rs4892908|3249|1||HGNC|HGNC:40085|2||||||||Ensembl||G|G||||chrX:g.2909330G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000458014|protein_coding||1/3|ENST00000458014.1:c.104+487C>T|||||||rs4892908||-1|cds_start_NF|HGNC|HGNC:717|3||ENSP00000409180||H7C327.64|UPI000059DAB2|||Ensembl||G|G||||chrX:g.2909330G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-525C>T|||||||rs4892908||-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2909330G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||8/9|NM_001669.4:c.1298+487C>T|||||||rs4892908||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||G|G||||chrX:g.2909330G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||||||||||rs4892908|4326|-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||G|G||||chrX:g.2909330G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSD-AS1|100506356|Transcript|NR_144459.1|lncRNA||||||||||rs4892908|3208|1||EntrezGene|HGNC:40085|||||||||RefSeq||G|G||||chrX:g.2909330G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||7/8|XM_005274514.3:c.1163+487C>T|||||||rs4892908||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||G|G||||chrX:g.2909330G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||8/9|XM_005274515.3:c.1298+487C>T|||||||rs4892908||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||G|G||||chrX:g.2909330G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||8/9|XM_047442108.1:c.1160+487C>T|||||||rs4892908||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||G|G||||chrX:g.2909330G>A|||||||||||||;SpliceAI=A|ARSD|0.00|0.00|0.00|0.00|-6|29|-6|29;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000414053,ENST00000458014,ENST00000495294,NM_001669.4,NM_009589.5,NR_144459.1,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000229851,ENSG00000006756,ENSG00000006756,414,414,100506356,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD-AS1,ARSD,ARSD,ARSD,ARSD,ARSD-AS1,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17703;gnomADv4_1_AC_joint_XX=12743;gnomADv4_1_AC_joint_XY=4960;gnomADv4_1_AF_grpmax_joint=0.223976;gnomADv4_1_AF_joint=0.160948;gnomADv4_1_AF_joint_XX=0.163986;gnomADv4_1_AF_joint_XY=0.153636;gnomADv4_1_AN_grpmax_joint=10327;gnomADv4_1_AN_joint=109992;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=32284;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=1155;gnomADv4_1_nhomalt_joint_XX=1155;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2910316 chrX_2910316_T_TTAA T TTAA 53 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADDIndel_PHREDscore=0.993;CADDIndel_Rawscore=-0.019556;CSQ=TAA|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||||||||||rs201397958|3297|-1||HGNC|HGNC:717|1||||||||Ensembl|||||||chrX:g.2910318_2910319insATA|||||||||||||,TAA|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||7/9|ENST00000381154.6:c.1136-338_1136-337insTTA|||||||rs201397958||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl|||||||chrX:g.2910318_2910319insATA|||||||||||||,TAA|downstream_gene_variant|MODIFIER|ARSD-AS1|ENSG00000229851|Transcript|ENST00000414053|lncRNA||||||||||rs201397958|4235|1||HGNC|HGNC:40085|2||||||||Ensembl|||||||chrX:g.2910318_2910319insATA|||||||||||||,TAA|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000458014|protein_coding||||||||||rs201397958|396|-1|cds_start_NF|HGNC|HGNC:717|3||ENSP00000409180||H7C327.64|UPI000059DAB2|||Ensembl|||||||chrX:g.2910318_2910319insATA|||||||||||||,TAA|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs201397958|4180|-1||HGNC|HGNC:717|3||||||||Ensembl|||||||chrX:g.2910318_2910319insATA|||||||||||||,TAA|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-1512_119-1511insTTA|||||||rs201397958||-1||HGNC|HGNC:717|2||||||||Ensembl|||||||chrX:g.2910318_2910319insATA|||||||||||||,TAA|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||7/9|NM_001669.4:c.1136-338_1136-337insTTA|||||||rs201397958||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq|||||||chrX:g.2910318_2910319insATA|||||||||||||,TAA|downstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||||||||||rs201397958|3339|-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq|||||||chrX:g.2910318_2910319insATA|||||||||||||,TAA|downstream_gene_variant|MODIFIER|ARSD-AS1|100506356|Transcript|NR_144459.1|lncRNA||||||||||rs201397958|4194|1||EntrezGene|HGNC:40085|||||||||RefSeq|||||||chrX:g.2910318_2910319insATA|||||||||||||,TAA|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||6/8|XM_005274514.3:c.1001-338_1001-337insTTA|||||||rs201397958||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq|||||||chrX:g.2910318_2910319insATA|||||||||||||,TAA|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||7/9|XM_005274515.3:c.1136-338_1136-337insTTA|||||||rs201397958||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq|||||||chrX:g.2910318_2910319insATA|||||||||||||,TAA|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||7/9|XM_047442108.1:c.998-338_998-337insTTA|||||||rs201397958||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq|||||||chrX:g.2910318_2910319insATA|||||||||||||;TYPE=INDEL;VEP_Allele=TAA,TAA,TAA,TAA,TAA,TAA,TAA,TAA,TAA,TAA,TAA,TAA;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000414053,ENST00000458014,ENST00000481340,ENST00000495294,NM_001669.4,NM_009589.5,NR_144459.1,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000229851,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,100506356,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD-AS1,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD-AS1,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37923;gnomADv4_1_AC_joint_XX=27232;gnomADv4_1_AC_joint_XY=10691;gnomADv4_1_AF_grpmax_joint=0.588606;gnomADv4_1_AF_joint=0.346778;gnomADv4_1_AF_joint_XX=0.35229;gnomADv4_1_AF_joint_XY=0.333489;gnomADv4_1_AN_grpmax_joint=3493;gnomADv4_1_AN_joint=109358;gnomADv4_1_AN_joint_XX=77300;gnomADv4_1_AN_joint_XY=32058;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5278;gnomADv4_1_nhomalt_joint_XX=5278;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2912050 chrX_2912050_G_T G T 51 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=2.502;CADD_Rawscore=0.223909;CSQ=T|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||||||||||rs6642066|1564|-1||HGNC|HGNC:717|1||||||||Ensembl||G|G||||chrX:g.2912050G>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||6/9|ENST00000381154.6:c.1001-1257C>A|||||||rs6642066||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||G|G||||chrX:g.2912050G>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000458014|protein_coding||||||||||rs6642066|2130|-1|cds_start_NF|HGNC|HGNC:717|3||ENSP00000409180||H7C327.64|UPI000059DAB2|||Ensembl||G|G||||chrX:g.2912050G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs6642066|2447|-1||HGNC|HGNC:717|3||||||||Ensembl||G|G||||chrX:g.2912050G>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-3245C>A|||||||rs6642066||-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2912050G>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||6/9|NM_001669.4:c.1001-1257C>A|||||||rs6642066||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||G|G||||chrX:g.2912050G>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||||||||||rs6642066|1606|-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||G|G||||chrX:g.2912050G>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||6/8|XM_005274514.3:c.1001-2071C>A|||||||rs6642066||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||G|G||||chrX:g.2912050G>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||6/9|XM_005274515.3:c.1001-1257C>A|||||||rs6642066||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||G|G||||chrX:g.2912050G>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||6/9|XM_047442108.1:c.863-1257C>A|||||||rs6642066||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||G|G||||chrX:g.2912050G>T|||||||||||||;SpliceAI=T|ARSD|0.00|0.00|0.00|0.00|26|47|7|-5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000458014,ENST00000481340,ENST00000495294,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23971;gnomADv4_1_AC_joint_XX=17276;gnomADv4_1_AC_joint_XY=6695;gnomADv4_1_AF_grpmax_joint=0.248032;gnomADv4_1_AF_joint=0.21614;gnomADv4_1_AF_joint_XX=0.222308;gnomADv4_1_AF_joint_XY=0.201699;gnomADv4_1_AN_grpmax_joint=30367;gnomADv4_1_AN_joint=110905;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=33193;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=1934;gnomADv4_1_nhomalt_joint_XX=1934;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2912250 chrX_2912250_T_C T C 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=4.706;CADD_Rawscore=0.428604;CSQ=C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||||||||||rs6642067|1364|-1||HGNC|HGNC:717|1||||||||Ensembl||T|T||||chrX:g.2912250T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||6/9|ENST00000381154.6:c.1001-1457A>G|||||||rs6642067||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||T|T||||chrX:g.2912250T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000458014|protein_coding||||||||||rs6642067|2330|-1|cds_start_NF|HGNC|HGNC:717|3||ENSP00000409180||H7C327.64|UPI000059DAB2|||Ensembl||T|T||||chrX:g.2912250T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs6642067|2247|-1||HGNC|HGNC:717|3||||||||Ensembl||T|T||||chrX:g.2912250T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-3445A>G|||||||rs6642067||-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2912250T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||6/9|NM_001669.4:c.1001-1457A>G|||||||rs6642067||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||T|T||||chrX:g.2912250T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||||||||||rs6642067|1406|-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||T|T||||chrX:g.2912250T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||6/8|XM_005274514.3:c.1001-2271A>G|||||||rs6642067||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||T|T||||chrX:g.2912250T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||6/9|XM_005274515.3:c.1001-1457A>G|||||||rs6642067||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||T|T||||chrX:g.2912250T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||6/9|XM_047442108.1:c.863-1457A>G|||||||rs6642067||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||T|T||||chrX:g.2912250T>C|||||||||||||;SpliceAI=C|ARSD|0.00|0.00|0.00|0.00|-1|15|27|-28;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000458014,ENST00000481340,ENST00000495294,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=42301;gnomADv4_1_AC_joint_XX=30121;gnomADv4_1_AC_joint_XY=12180;gnomADv4_1_AF_grpmax_joint=0.618905;gnomADv4_1_AF_joint=0.381441;gnomADv4_1_AF_joint_XX=0.387458;gnomADv4_1_AF_joint_XY=0.367332;gnomADv4_1_AN_grpmax_joint=30415;gnomADv4_1_AN_joint=110898;gnomADv4_1_AN_joint_XX=77740;gnomADv4_1_AN_joint_XY=33158;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=6814;gnomADv4_1_nhomalt_joint_XX=6814;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2913960 chrX_2913960_A_G A G 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=4.027;CADD_Rawscore=0.367592;CSQ=G|non_coding_transcript_exon_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined|7/7||ENST00000217890.10:n.1814T>C||1814|||||rs211647||-1||HGNC|HGNC:717|1||||||||Ensembl||A|A||||chrX:g.2913960A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||6/9|ENST00000381154.6:c.1000+1596T>C|||||||rs211647||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||A|A||||chrX:g.2913960A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000458014|protein_coding||||||||||rs211647|4040|-1|cds_start_NF|HGNC|HGNC:717|3||ENSP00000409180||H7C327.64|UPI000059DAB2|||Ensembl||A|A||||chrX:g.2913960A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs211647|537|-1||HGNC|HGNC:717|3||||||||Ensembl||A|A||||chrX:g.2913960A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-5155T>C|||||||rs211647||-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2913960A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||6/9|NM_001669.4:c.1000+1596T>C|||||||rs211647||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||A|A||||chrX:g.2913960A>G|||||||||||||,G|3_prime_UTR_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding|7/7||NM_009589.5:c.*665T>C||1878|||||rs211647||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||A|A||||chrX:g.2913960A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||6/8|XM_005274514.3:c.1000+1596T>C|||||||rs211647||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||A|A||||chrX:g.2913960A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||6/9|XM_005274515.3:c.1000+1596T>C|||||||rs211647||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||A|A||||chrX:g.2913960A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||6/9|XM_047442108.1:c.862+1596T>C|||||||rs211647||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||A|A||||chrX:g.2913960A>G|||||||||||||;SpliceAI=G|ARSD|0.00|0.00|0.00|0.00|23|-6|-22|-6;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000458014,ENST00000481340,ENST00000495294,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=152285;gnomADv4_1_AC_joint_XX=118797;gnomADv4_1_AC_joint_XY=33488;gnomADv4_1_AF_grpmax_joint=0.602459;gnomADv4_1_AF_joint=0.513841;gnomADv4_1_AF_joint_XX=0.50738;gnomADv4_1_AF_joint_XY=0.53815;gnomADv4_1_AN_grpmax_joint=11468;gnomADv4_1_AN_joint=296366;gnomADv4_1_AN_joint_XX=234138;gnomADv4_1_AN_joint_XY=62228;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=30499;gnomADv4_1_nhomalt_joint_XX=30499;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2914418 chrX_2914418_TG_T TG T 52 . AC=3;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=1;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=52;CADDIndel_PHREDscore=0.758;CADDIndel_Rawscore=-0.088956;CSQ=-|non_coding_transcript_exon_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined|7/7||ENST00000217890.10:n.1355del||1355|||||rs58883920||-1||HGNC|HGNC:717|1||||||||Ensembl||G|G||||chrX:g.2914430del|||||||||||||,-|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||6/9|ENST00000381154.6:c.1000+1137del|||||||rs58883920||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||G|G||||chrX:g.2914430del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000458014|protein_coding||||||||||rs58883920|4499|-1|cds_start_NF|HGNC|HGNC:717|3||ENSP00000409180||H7C327.64|UPI000059DAB2|||Ensembl||G|G||||chrX:g.2914430del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs58883920|78|-1||HGNC|HGNC:717|3||||||||Ensembl||G|G||||chrX:g.2914430del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-5614del|||||||rs58883920||-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2914430del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||6/9|NM_001669.4:c.1000+1137del|||||||rs58883920||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||G|G||||chrX:g.2914430del|||||||||||||,-|3_prime_UTR_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding|7/7||NM_009589.5:c.*206del||1419|||||rs58883920||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||G|G||||chrX:g.2914430del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||6/8|XM_005274514.3:c.1000+1137del|||||||rs58883920||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||G|G||||chrX:g.2914430del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||6/9|XM_005274515.3:c.1000+1137del|||||||rs58883920||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||G|G||||chrX:g.2914430del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||6/9|XM_047442108.1:c.862+1137del|||||||rs58883920||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||G|G||||chrX:g.2914430del|||||||||||||;SpliceAI=T|ARSD|0.00|0.00|0.00|0.00|-39|-27|-31|21;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000458014,ENST00000481340,ENST00000495294,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=116077;gnomADv4_1_AC_joint_XX=101007;gnomADv4_1_AC_joint_XY=15070;gnomADv4_1_AF_grpmax_joint=0.590153;gnomADv4_1_AF_joint=0.438947;gnomADv4_1_AF_joint_XX=0.448641;gnomADv4_1_AF_joint_XY=0.383422;gnomADv4_1_AN_grpmax_joint=26932;gnomADv4_1_AN_joint=264444;gnomADv4_1_AN_joint_XX=225140;gnomADv4_1_AN_joint_XY=39304;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=16068;gnomADv4_1_nhomalt_joint_XX=16068;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2914701 chrX_2914701_G_C G C 53 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=0.179;CADD_Rawscore=-0.456544;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined|7/7||ENST00000217890.10:n.1073C>G||1073|||||rs211648||-1||HGNC|HGNC:717|1||||||||Ensembl||G|G||||chrX:g.2914701G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||6/9|ENST00000381154.6:c.1000+855C>G|||||||rs211648||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||G|G||||chrX:g.2914701G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000458014|protein_coding||||||||||rs211648|4781|-1|cds_start_NF|HGNC|HGNC:717|3||ENSP00000409180||H7C327.64|UPI000059DAB2|||Ensembl||G|G||||chrX:g.2914701G>C|||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined|2/2||ENST00000481340.1:n.148C>G||148|||||rs211648||-1||HGNC|HGNC:717|3||||||||Ensembl||G|G||||chrX:g.2914701G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-5896C>G|||||||rs211648||-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2914701G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||6/9|NM_001669.4:c.1000+855C>G|||||||rs211648||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||G|G||||chrX:g.2914701G>C|||||||||||||,C|missense_variant|MODERATE|ARSD|414|Transcript|NM_009589.5|protein_coding|7/7||NM_009589.5:c.1073C>G|NP_033667.2:p.Thr358Arg|1137|1073|358|T/R|aCa/aGa|rs211648||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||G|G||||chrX:g.2914701G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||6/8|XM_005274514.3:c.1000+855C>G|||||||rs211648||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||G|G||||chrX:g.2914701G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||6/9|XM_005274515.3:c.1000+855C>G|||||||rs211648||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||G|G||||chrX:g.2914701G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||6/9|XM_047442108.1:c.862+855C>G|||||||rs211648||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||G|G||||chrX:g.2914701G>C|||||||||||||;REVEL_score=0.009;SpliceAI=C|ARSD|0.00|0.00|0.00|0.00|48|-29|-46|24;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000458014,ENST00000481340,ENST00000495294,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=617419;gnomADv4_1_AC_joint_XX=418469;gnomADv4_1_AC_joint_XY=198950;gnomADv4_1_AF_grpmax_joint=0.906843;gnomADv4_1_AF_joint=0.602759;gnomADv4_1_AF_joint_XX=0.606029;gnomADv4_1_AF_joint_XY=0.595996;gnomADv4_1_AN_grpmax_joint=16295;gnomADv4_1_AN_joint=1024321;gnomADv4_1_AN_joint_XX=690510;gnomADv4_1_AN_joint_XY=333811;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=129334;gnomADv4_1_nhomalt_joint_XX=129334;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2915465 chrX_2915465_G_C G C 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.266;CADD_Rawscore=-0.352482;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||6/6|ENST00000217890.10:n.1000+91C>G|||||||rs211649||-1||HGNC|HGNC:717|1||||||||Ensembl||G|G||||chrX:g.2915465G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||6/9|ENST00000381154.6:c.1000+91C>G|||||||rs211649||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||G|G||||chrX:g.2915465G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||1/1|ENST00000481340.1:n.76-692C>G|||||||rs211649||-1||HGNC|HGNC:717|3||||||||Ensembl||G|G||||chrX:g.2915465G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs211649|4916|-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2915465G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-6660C>G|||||||rs211649||-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2915465G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||6/9|NM_001669.4:c.1000+91C>G|||||||rs211649||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||G|G||||chrX:g.2915465G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||6/6|NM_009589.5:c.1000+91C>G|||||||rs211649||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||G|G||||chrX:g.2915465G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||6/8|XM_005274514.3:c.1000+91C>G|||||||rs211649||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||G|G||||chrX:g.2915465G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||6/9|XM_005274515.3:c.1000+91C>G|||||||rs211649||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||G|G||||chrX:g.2915465G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||6/9|XM_047442108.1:c.862+91C>G|||||||rs211649||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||G|G||||chrX:g.2915465G>C|||||||||||||;SpliceAI=C|ARSD|0.00|0.00|0.00|0.00|-1|46|1|46;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=712314;gnomADv4_1_AC_joint_XX=494140;gnomADv4_1_AC_joint_XY=218174;gnomADv4_1_AF_grpmax_joint=0.914717;gnomADv4_1_AF_joint=0.620442;gnomADv4_1_AF_joint_XX=0.6203;gnomADv4_1_AF_joint_XY=0.620763;gnomADv4_1_AN_grpmax_joint=32492;gnomADv4_1_AN_joint=1148075;gnomADv4_1_AN_joint_XX=796614;gnomADv4_1_AN_joint_XY=351461;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=156272;gnomADv4_1_nhomalt_joint_XX=156272;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2915815 chrX_2915815_T_C T C 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=2.274;CADD_Rawscore=0.198116;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||5/6|ENST00000217890.10:n.864-123A>G|||||||rs211650||-1||HGNC|HGNC:717|1||||||||Ensembl||T|T||||chrX:g.2915815T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||5/9|ENST00000381154.6:c.864-123A>G|||||||rs211650||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||T|T||||chrX:g.2915815T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||1/1|ENST00000481340.1:n.76-1042A>G|||||||rs211650||-1||HGNC|HGNC:717|3||||||||Ensembl||T|T||||chrX:g.2915815T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs211650|4566|-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2915815T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-7010A>G|||||||rs211650||-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2915815T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs211650|4861|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||T|T||||chrX:g.2915815T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||5/9|NM_001669.4:c.864-123A>G|||||||rs211650||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||T|T||||chrX:g.2915815T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||5/6|NM_009589.5:c.864-123A>G|||||||rs211650||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||T|T||||chrX:g.2915815T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||5/8|XM_005274514.3:c.864-123A>G|||||||rs211650||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||T|T||||chrX:g.2915815T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||5/9|XM_005274515.3:c.864-123A>G|||||||rs211650||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||T|T||||chrX:g.2915815T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||5/9|XM_047442108.1:c.726-123A>G|||||||rs211650||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||T|T||||chrX:g.2915815T>C|||||||||||||;SpliceAI=C|ARSD|0.00|0.00|0.00|0.00|-40|-7|-9|29;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=407698;gnomADv4_1_AC_joint_XX=298248;gnomADv4_1_AC_joint_XY=109450;gnomADv4_1_AF_grpmax_joint=0.916578;gnomADv4_1_AF_joint=0.626556;gnomADv4_1_AF_joint_XX=0.617862;gnomADv4_1_AF_joint_XY=0.651539;gnomADv4_1_AN_grpmax_joint=27187;gnomADv4_1_AN_joint=650697;gnomADv4_1_AN_joint_XX=482710;gnomADv4_1_AN_joint_XY=167987;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=94569;gnomADv4_1_nhomalt_joint_XX=94569;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2916032 chrX_2916032_C_T C T 53 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=2.016;CADD_Rawscore=0.166048;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||5/6|ENST00000217890.10:n.864-340G>A|||||||rs169829||-1||HGNC|HGNC:717|1||||||||Ensembl||C|C||||chrX:g.2916032C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||5/9|ENST00000381154.6:c.864-340G>A|||||||rs169829||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||C|C||||chrX:g.2916032C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||1/1|ENST00000481340.1:n.76-1259G>A|||||||rs169829||-1||HGNC|HGNC:717|3||||||||Ensembl||C|C||||chrX:g.2916032C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs169829|4349|-1||HGNC|HGNC:717|2||||||||Ensembl||C|C||||chrX:g.2916032C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-7227G>A|||||||rs169829||-1||HGNC|HGNC:717|2||||||||Ensembl||C|C||||chrX:g.2916032C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs169829|4644|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||C|C||||chrX:g.2916032C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||5/9|NM_001669.4:c.864-340G>A|||||||rs169829||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||C|C||||chrX:g.2916032C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||5/6|NM_009589.5:c.864-340G>A|||||||rs169829||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||C|C||||chrX:g.2916032C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||5/8|XM_005274514.3:c.864-340G>A|||||||rs169829||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||C|C||||chrX:g.2916032C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||5/9|XM_005274515.3:c.864-340G>A|||||||rs169829||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||C|C||||chrX:g.2916032C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||5/9|XM_047442108.1:c.726-340G>A|||||||rs169829||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||C|C||||chrX:g.2916032C>T|||||||||||||;SpliceAI=T|ARSD|0.00|0.00|0.00|0.00|-2|-14|-2|-9;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=66928;gnomADv4_1_AC_joint_XX=49978;gnomADv4_1_AC_joint_XY=16950;gnomADv4_1_AF_grpmax_joint=0.905951;gnomADv4_1_AF_joint=0.6436;gnomADv4_1_AF_joint_XX=0.647853;gnomADv4_1_AF_joint_XY=0.631379;gnomADv4_1_AN_grpmax_joint=3243;gnomADv4_1_AN_joint=103990;gnomADv4_1_AN_joint_XX=77144;gnomADv4_1_AN_joint_XY=26846;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16424;gnomADv4_1_nhomalt_joint_XX=16424;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2916131 chrX_2916131_C_CAAA C CAAA 27 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=1.0;AF_XX=.;AF_XY=1.0;AN=1;AN_XX=0;AN_XY=1;AQ=27;CADDIndel_PHREDscore=0.709;CADDIndel_Rawscore=-0.105534;CSQ=AAA|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||5/6|ENST00000217890.10:n.864-442_864-440dup|||||||rs55848346||-1||HGNC|HGNC:717|1||||||||Ensembl|||||||chrX:g.2916150_2916152dup|||||||||||||,AAA|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||5/9|ENST00000381154.6:c.864-442_864-440dup|||||||rs55848346||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl|||||||chrX:g.2916150_2916152dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||1/1|ENST00000481340.1:n.76-1361_76-1359dup|||||||rs55848346||-1||HGNC|HGNC:717|3||||||||Ensembl|||||||chrX:g.2916150_2916152dup|||||||||||||,AAA|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs55848346|4249|-1||HGNC|HGNC:717|2||||||||Ensembl|||||||chrX:g.2916150_2916152dup|||||||||||||,AAA|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-7329_119-7327dup|||||||rs55848346||-1||HGNC|HGNC:717|2||||||||Ensembl|||||||chrX:g.2916150_2916152dup|||||||||||||,AAA|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs55848346|4544|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl|||||||chrX:g.2916150_2916152dup|||||||||||||,AAA|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||5/9|NM_001669.4:c.864-442_864-440dup|||||||rs55848346||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq|||||||chrX:g.2916150_2916152dup|||||||||||||,AAA|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||5/6|NM_009589.5:c.864-442_864-440dup|||||||rs55848346||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq|||||||chrX:g.2916150_2916152dup|||||||||||||,AAA|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||5/8|XM_005274514.3:c.864-442_864-440dup|||||||rs55848346||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq|||||||chrX:g.2916150_2916152dup|||||||||||||,AAA|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||5/9|XM_005274515.3:c.864-442_864-440dup|||||||rs55848346||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq|||||||chrX:g.2916150_2916152dup|||||||||||||,AAA|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||5/9|XM_047442108.1:c.726-442_726-440dup|||||||rs55848346||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq|||||||chrX:g.2916150_2916152dup|||||||||||||;TYPE=INDEL;VEP_Allele=AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA,AAA;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17153;gnomADv4_1_AC_joint_XX=16429;gnomADv4_1_AC_joint_XY=724;gnomADv4_1_AF_grpmax_joint=0.469493;gnomADv4_1_AF_joint=0.450885;gnomADv4_1_AF_joint_XX=0.464096;gnomADv4_1_AF_joint_XY=0.273931;gnomADv4_1_AN_grpmax_joint=22782;gnomADv4_1_AN_joint=38043;gnomADv4_1_AN_joint_XX=35400;gnomADv4_1_AN_joint_XY=2643;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3666;gnomADv4_1_nhomalt_joint_XX=3666;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2916489 chrX_2916489_G_C G C 59 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=59;CADD_PHREDscore=0.2;CADD_Rawscore=-0.426692;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||5/6|ENST00000217890.10:n.864-797C>G|||||||rs211651||-1||HGNC|HGNC:717|1||||||||Ensembl||G|G||||chrX:g.2916489G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||5/9|ENST00000381154.6:c.864-797C>G|||||||rs211651||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||G|G||||chrX:g.2916489G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||1/1|ENST00000481340.1:n.75+1315C>G|||||||rs211651||-1||HGNC|HGNC:717|3||||||||Ensembl||G|G||||chrX:g.2916489G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs211651|3892|-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2916489G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-7684C>G|||||||rs211651||-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2916489G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs211651|4187|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||G|G||||chrX:g.2916489G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||5/9|NM_001669.4:c.864-797C>G|||||||rs211651||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||G|G||||chrX:g.2916489G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||5/6|NM_009589.5:c.864-797C>G|||||||rs211651||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||G|G||||chrX:g.2916489G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||5/8|XM_005274514.3:c.864-797C>G|||||||rs211651||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||G|G||||chrX:g.2916489G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||5/9|XM_005274515.3:c.864-797C>G|||||||rs211651||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||G|G||||chrX:g.2916489G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||5/9|XM_047442108.1:c.726-797C>G|||||||rs211651||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||G|G||||chrX:g.2916489G>C|||||||||||||;SpliceAI=C|ARSD|0.00|0.00|0.00|0.00|0|48|38|-32;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=75013;gnomADv4_1_AC_joint_XX=53222;gnomADv4_1_AC_joint_XY=21791;gnomADv4_1_AF_grpmax_joint=0.908432;gnomADv4_1_AF_joint=0.682296;gnomADv4_1_AF_joint_XX=0.684897;gnomADv4_1_AF_joint_XY=0.676025;gnomADv4_1_AN_grpmax_joint=3451;gnomADv4_1_AN_joint=109942;gnomADv4_1_AN_joint_XX=77708;gnomADv4_1_AN_joint_XY=32234;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18920;gnomADv4_1_nhomalt_joint_XX=18920;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2916799 chrX_2916799_C_T C T 57 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=57;CADD_PHREDscore=1.17;CADD_Rawscore=0.02292;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||5/6|ENST00000217890.10:n.863+1005G>A|||||||rs211652||-1||HGNC|HGNC:717|1||||||||Ensembl||C|C||||chrX:g.2916799C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||5/9|ENST00000381154.6:c.863+1005G>A|||||||rs211652||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||C|C||||chrX:g.2916799C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||1/1|ENST00000481340.1:n.75+1005G>A|||||||rs211652||-1||HGNC|HGNC:717|3||||||||Ensembl||C|C||||chrX:g.2916799C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs211652|3582|-1||HGNC|HGNC:717|2||||||||Ensembl||C|C||||chrX:g.2916799C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-7994G>A|||||||rs211652||-1||HGNC|HGNC:717|2||||||||Ensembl||C|C||||chrX:g.2916799C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs211652|3877|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||C|C||||chrX:g.2916799C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||5/9|NM_001669.4:c.863+1005G>A|||||||rs211652||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||C|C||||chrX:g.2916799C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||5/6|NM_009589.5:c.863+1005G>A|||||||rs211652||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||C|C||||chrX:g.2916799C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||5/8|XM_005274514.3:c.863+1005G>A|||||||rs211652||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||C|C||||chrX:g.2916799C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||5/9|XM_005274515.3:c.863+1005G>A|||||||rs211652||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||C|C||||chrX:g.2916799C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||5/9|XM_047442108.1:c.725+1005G>A|||||||rs211652||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||C|C||||chrX:g.2916799C>T|||||||||||||;SpliceAI=T|ARSD|0.00|0.00|0.00|0.00|-20|28|48|-25;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=75004;gnomADv4_1_AC_joint_XX=53120;gnomADv4_1_AC_joint_XY=21884;gnomADv4_1_AF_grpmax_joint=0.906628;gnomADv4_1_AF_joint=0.681204;gnomADv4_1_AF_joint_XX=0.683321;gnomADv4_1_AF_joint_XY=0.676121;gnomADv4_1_AN_grpmax_joint=3470;gnomADv4_1_AN_joint=110105;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=32367;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18856;gnomADv4_1_nhomalt_joint_XX=18856;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2917066 chrX_2917066_CA_C CA C 44 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=0.339;CADDIndel_Rawscore=-0.291166;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||5/6|ENST00000217890.10:n.863+737del|||||||rs63580360||-1||HGNC|HGNC:717|1||||||||Ensembl||A|A||||chrX:g.2917087del|||||||||||||,-|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||5/9|ENST00000381154.6:c.863+737del|||||||rs63580360||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||A|A||||chrX:g.2917087del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||1/1|ENST00000481340.1:n.75+737del|||||||rs63580360||-1||HGNC|HGNC:717|3||||||||Ensembl||A|A||||chrX:g.2917087del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs63580360|3314|-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2917087del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-8262del|||||||rs63580360||-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2917087del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs63580360|3609|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||A|A||||chrX:g.2917087del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||5/9|NM_001669.4:c.863+737del|||||||rs63580360||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||A|A||||chrX:g.2917087del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||5/6|NM_009589.5:c.863+737del|||||||rs63580360||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||A|A||||chrX:g.2917087del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||5/8|XM_005274514.3:c.863+737del|||||||rs63580360||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||A|A||||chrX:g.2917087del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||5/9|XM_005274515.3:c.863+737del|||||||rs63580360||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||A|A||||chrX:g.2917087del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||5/9|XM_047442108.1:c.725+737del|||||||rs63580360||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||A|A||||chrX:g.2917087del|||||||||||||;SpliceAI=C|ARSD|0.00|0.00|0.00|0.00|-3|-28|28|9;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=29127;gnomADv4_1_AC_joint_XX=27212;gnomADv4_1_AC_joint_XY=1915;gnomADv4_1_AF_grpmax_joint=0.786896;gnomADv4_1_AF_joint=0.555276;gnomADv4_1_AF_joint_XX=0.559388;gnomADv4_1_AF_joint_XY=0.502757;gnomADv4_1_AN_grpmax_joint=1511;gnomADv4_1_AN_joint=52455;gnomADv4_1_AN_joint_XX=48646;gnomADv4_1_AN_joint_XY=3809;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=5914;gnomADv4_1_nhomalt_joint_XX=5914;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2917996 chrX_2917996_G_C G C 53 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;AlphaMissense_class=likely_benign;AlphaMissense_pathogenicity=0.0939;AlphaMissense_protein_variant=S224C;AlphaMissense_transcript_id=ENST00000381154.6;AlphaMissense_uniprot_id=P51689;CADD_PHREDscore=12.9;CADD_Rawscore=1.29926;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined|5/7||ENST00000217890.10:n.671C>G||671|||||rs211653||-1||HGNC|HGNC:717|1||||||||Ensembl||G|G||||chrX:g.2917996G>C|benign||1||||||||||,C|missense_variant|MODERATE|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding|5/10||ENST00000381154.6:c.671C>G|ENSP00000370546.1:p.Ser224Cys|735|671|224|S/C|tCt/tGt|rs211653||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||G|G||||chrX:g.2917996G>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs211653|118|-1||HGNC|HGNC:717|3||||||||Ensembl||G|G||||chrX:g.2917996G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs211653|2385|-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2917996G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-9191C>G|||||||rs211653||-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2917996G>C|benign||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs211653|2680|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||G|G||||chrX:g.2917996G>C|benign||1||||||||||,C|missense_variant|MODERATE|ARSD|414|Transcript|NM_001669.4|protein_coding|5/10||NM_001669.4:c.671C>G|NP_001660.2:p.Ser224Cys|735|671|224|S/C|tCt/tGt|rs211653||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||G|G||||chrX:g.2917996G>C|benign||1||||||||||,C|missense_variant|MODERATE|ARSD|414|Transcript|NM_009589.5|protein_coding|5/7||NM_009589.5:c.671C>G|NP_033667.2:p.Ser224Cys|735|671|224|S/C|tCt/tGt|rs211653||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||G|G||||chrX:g.2917996G>C|benign||1||||||||||,C|missense_variant|MODERATE|ARSD|414|Transcript|XM_005274514.3|protein_coding|5/9||XM_005274514.3:c.671C>G|XP_005274571.1:p.Ser224Cys|735|671|224|S/C|tCt/tGt|rs211653||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||G|G||||chrX:g.2917996G>C|benign||1||||||||||,C|missense_variant|MODERATE|ARSD|414|Transcript|XM_005274515.3|protein_coding|5/10||XM_005274515.3:c.671C>G|XP_005274572.1:p.Ser224Cys|735|671|224|S/C|tCt/tGt|rs211653||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||G|G||||chrX:g.2917996G>C|benign||1||||||||||,C|missense_variant|MODERATE|ARSD|414|Transcript|XM_047442108.1|protein_coding|5/10||XM_047442108.1:c.533C>G|XP_047298064.1:p.Ser178Cys|645|533|178|S/C|tCt/tGt|rs211653||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||G|G||||chrX:g.2917996G>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2917996G>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=ARSD:414;ClinVar_Variation_ID=1269324;REVEL_score=0.252;SpliceAI=C|ARSD|0.00|0.00|0.00|0.00|21|-18|-34|-9;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=566858;gnomADv4_1_AC_joint_XX=384758;gnomADv4_1_AC_joint_XY=182100;gnomADv4_1_AF_grpmax_joint=0.547547;gnomADv4_1_AF_joint=0.469802;gnomADv4_1_AF_joint_XX=0.473889;gnomADv4_1_AF_joint_XY=0.461393;gnomADv4_1_AN_grpmax_joint=45366;gnomADv4_1_AN_joint=1206590;gnomADv4_1_AN_joint_XX=811916;gnomADv4_1_AN_joint_XY=394674;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=92059;gnomADv4_1_nhomalt_joint_XX=92059;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2918695 chrX_2918695_A_G A G 53 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=0.714;CADD_Rawscore=-0.103826;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||4/6|ENST00000217890.10:n.440-468T>C|||||||rs5939398||-1||HGNC|HGNC:717|1||||||||Ensembl||A|A||||chrX:g.2918695A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||4/9|ENST00000381154.6:c.440-468T>C|||||||rs5939398||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||A|A||||chrX:g.2918695A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs5939398|817|-1||HGNC|HGNC:717|3||||||||Ensembl||A|A||||chrX:g.2918695A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs5939398|1686|-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2918695A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-9890T>C|||||||rs5939398||-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2918695A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs5939398|1981|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||A|A||||chrX:g.2918695A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||4/9|NM_001669.4:c.440-468T>C|||||||rs5939398||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||A|A||||chrX:g.2918695A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||4/6|NM_009589.5:c.440-468T>C|||||||rs5939398||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||A|A||||chrX:g.2918695A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||4/8|XM_005274514.3:c.440-468T>C|||||||rs5939398||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||A|A||||chrX:g.2918695A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||4/9|XM_005274515.3:c.440-468T>C|||||||rs5939398||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||A|A||||chrX:g.2918695A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||4/9|XM_047442108.1:c.302-468T>C|||||||rs5939398||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||A|A||||chrX:g.2918695A>G|||||||||||||;SpliceAI=G|ARSD|0.00|0.00|0.00|0.00|41|-33|-14|-33;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68224;gnomADv4_1_AC_joint_XX=48680;gnomADv4_1_AC_joint_XY=19544;gnomADv4_1_AF_grpmax_joint=0.901109;gnomADv4_1_AF_joint=0.623563;gnomADv4_1_AF_joint_XX=0.627805;gnomADv4_1_AF_joint_XY=0.613241;gnomADv4_1_AN_grpmax_joint=3428;gnomADv4_1_AN_joint=109410;gnomADv4_1_AN_joint_XX=77540;gnomADv4_1_AN_joint_XY=31870;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15412;gnomADv4_1_nhomalt_joint_XX=15412;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2918696 chrX_2918696_T_C T C 52 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=0.242;CADD_Rawscore=-0.377249;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||4/6|ENST00000217890.10:n.440-469A>G|||||||rs5939399||-1||HGNC|HGNC:717|1||||||||Ensembl||T|T||||chrX:g.2918696T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||4/9|ENST00000381154.6:c.440-469A>G|||||||rs5939399||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||T|T||||chrX:g.2918696T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs5939399|818|-1||HGNC|HGNC:717|3||||||||Ensembl||T|T||||chrX:g.2918696T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs5939399|1685|-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2918696T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-9891A>G|||||||rs5939399||-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2918696T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs5939399|1980|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||T|T||||chrX:g.2918696T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||4/9|NM_001669.4:c.440-469A>G|||||||rs5939399||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||T|T||||chrX:g.2918696T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||4/6|NM_009589.5:c.440-469A>G|||||||rs5939399||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||T|T||||chrX:g.2918696T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||4/8|XM_005274514.3:c.440-469A>G|||||||rs5939399||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||T|T||||chrX:g.2918696T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||4/9|XM_005274515.3:c.440-469A>G|||||||rs5939399||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||T|T||||chrX:g.2918696T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||4/9|XM_047442108.1:c.302-469A>G|||||||rs5939399||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||T|T||||chrX:g.2918696T>C|||||||||||||;SpliceAI=C|ARSD|0.00|0.00|0.00|0.00|40|29|-15|-2;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68634;gnomADv4_1_AC_joint_XX=48967;gnomADv4_1_AC_joint_XY=19667;gnomADv4_1_AF_grpmax_joint=0.902218;gnomADv4_1_AF_joint=0.628005;gnomADv4_1_AF_joint_XX=0.631523;gnomADv4_1_AF_joint_XY=0.619414;gnomADv4_1_AN_grpmax_joint=3426;gnomADv4_1_AN_joint=109289;gnomADv4_1_AN_joint_XX=77538;gnomADv4_1_AN_joint_XY=31751;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15614;gnomADv4_1_nhomalt_joint_XX=15614;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2918746 chrX_2918746_C_T C T 56 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=56;CADD_PHREDscore=0.448;CADD_Rawscore=-0.220844;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||4/6|ENST00000217890.10:n.440-519G>A|||||||rs5939400||-1||HGNC|HGNC:717|1||||||||Ensembl||C|C||||chrX:g.2918746C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||4/9|ENST00000381154.6:c.440-519G>A|||||||rs5939400||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||C|C||||chrX:g.2918746C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs5939400|868|-1||HGNC|HGNC:717|3||||||||Ensembl||C|C||||chrX:g.2918746C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs5939400|1635|-1||HGNC|HGNC:717|2||||||||Ensembl||C|C||||chrX:g.2918746C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.119-9941G>A|||||||rs5939400||-1||HGNC|HGNC:717|2||||||||Ensembl||C|C||||chrX:g.2918746C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs5939400|1930|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||C|C||||chrX:g.2918746C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||4/9|NM_001669.4:c.440-519G>A|||||||rs5939400||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||C|C||||chrX:g.2918746C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||4/6|NM_009589.5:c.440-519G>A|||||||rs5939400||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||C|C||||chrX:g.2918746C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||4/8|XM_005274514.3:c.440-519G>A|||||||rs5939400||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||C|C||||chrX:g.2918746C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||4/9|XM_005274515.3:c.440-519G>A|||||||rs5939400||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||C|C||||chrX:g.2918746C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||4/9|XM_047442108.1:c.302-519G>A|||||||rs5939400||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||C|C||||chrX:g.2918746C>T|||||||||||||;SpliceAI=T|ARSD|0.00|0.00|0.00|0.00|-2|-10|3|-10;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=72677;gnomADv4_1_AC_joint_XX=52112;gnomADv4_1_AC_joint_XY=20565;gnomADv4_1_AF_grpmax_joint=0.90603;gnomADv4_1_AF_joint=0.669896;gnomADv4_1_AF_joint_XX=0.672361;gnomADv4_1_AF_joint_XY=0.66373;gnomADv4_1_AN_grpmax_joint=3416;gnomADv4_1_AN_joint=108490;gnomADv4_1_AN_joint_XX=77506;gnomADv4_1_AN_joint_XY=30984;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17867;gnomADv4_1_nhomalt_joint_XX=17867;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2919218 chrX_2919218_G_GTCC G GTCC 37 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=37;CADDIndel_PHREDscore=0.389;CADDIndel_Rawscore=-0.256206;CSQ=TCC|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||4/6|ENST00000217890.10:n.440-994_440-992dup|||||||rs10624690||-1||HGNC|HGNC:717|1||||||||Ensembl|||||||chrX:g.2919220_2919222dup|||||||||||||,TCC|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||4/9|ENST00000381154.6:c.440-994_440-992dup|||||||rs10624690||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl|||||||chrX:g.2919220_2919222dup|||||||||||||,TCC|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs10624690|1340|-1||HGNC|HGNC:717|3||||||||Ensembl|||||||chrX:g.2919220_2919222dup|||||||||||||,TCC|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs10624690|1162|-1||HGNC|HGNC:717|2||||||||Ensembl|||||||chrX:g.2919220_2919222dup|||||||||||||,TCC|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+10011_118+10013dup|||||||rs10624690||-1||HGNC|HGNC:717|2||||||||Ensembl|||||||chrX:g.2919220_2919222dup|||||||||||||,TCC|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs10624690|1457|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl|||||||chrX:g.2919220_2919222dup|||||||||||||,TCC|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||4/9|NM_001669.4:c.440-994_440-992dup|||||||rs10624690||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq|||||||chrX:g.2919220_2919222dup|||||||||||||,TCC|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||4/6|NM_009589.5:c.440-994_440-992dup|||||||rs10624690||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq|||||||chrX:g.2919220_2919222dup|||||||||||||,TCC|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||4/8|XM_005274514.3:c.440-994_440-992dup|||||||rs10624690||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq|||||||chrX:g.2919220_2919222dup|||||||||||||,TCC|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||4/9|XM_005274515.3:c.440-994_440-992dup|||||||rs10624690||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq|||||||chrX:g.2919220_2919222dup|||||||||||||,TCC|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||4/9|XM_047442108.1:c.302-994_302-992dup|||||||rs10624690||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq|||||||chrX:g.2919220_2919222dup|||||||||||||;TYPE=INDEL;VEP_Allele=TCC,TCC,TCC,TCC,TCC,TCC,TCC,TCC,TCC,TCC,TCC;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58921;gnomADv4_1_AC_joint_XX=50255;gnomADv4_1_AC_joint_XY=8666;gnomADv4_1_AF_grpmax_joint=0.927207;gnomADv4_1_AF_joint=0.65849;gnomADv4_1_AF_joint_XX=0.707677;gnomADv4_1_AF_joint_XY=0.46932;gnomADv4_1_AN_grpmax_joint=22571;gnomADv4_1_AN_joint=89479;gnomADv4_1_AN_joint_XX=71014;gnomADv4_1_AN_joint_XY=18465;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=18807;gnomADv4_1_nhomalt_joint_XX=18807;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2919250 chrX_2919250_A_G A G 39 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=39;CADD_PHREDscore=0.857;CADD_Rawscore=-0.057452;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||4/6|ENST00000217890.10:n.440-1023T>C|||||||rs1637776||-1||HGNC|HGNC:717|1||||||||Ensembl||A|A||||chrX:g.2919250A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||4/9|ENST00000381154.6:c.440-1023T>C|||||||rs1637776||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||A|A||||chrX:g.2919250A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs1637776|1372|-1||HGNC|HGNC:717|3||||||||Ensembl||A|A||||chrX:g.2919250A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs1637776|1131|-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2919250A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+9982T>C|||||||rs1637776||-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2919250A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs1637776|1426|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||A|A||||chrX:g.2919250A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||4/9|NM_001669.4:c.440-1023T>C|||||||rs1637776||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||A|A||||chrX:g.2919250A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||4/6|NM_009589.5:c.440-1023T>C|||||||rs1637776||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||A|A||||chrX:g.2919250A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||4/8|XM_005274514.3:c.440-1023T>C|||||||rs1637776||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||A|A||||chrX:g.2919250A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||4/9|XM_005274515.3:c.440-1023T>C|||||||rs1637776||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||A|A||||chrX:g.2919250A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||4/9|XM_047442108.1:c.302-1023T>C|||||||rs1637776||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||A|A||||chrX:g.2919250A>G|||||||||||||;SpliceAI=G|ARSD|0.00|0.00|0.00|0.00|14|-29|-15|-5;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=64064;gnomADv4_1_AC_joint_XX=52361;gnomADv4_1_AC_joint_XY=11703;gnomADv4_1_AF_grpmax_joint=0.897729;gnomADv4_1_AF_joint=0.667187;gnomADv4_1_AF_joint_XX=0.70537;gnomADv4_1_AF_joint_XY=0.537106;gnomADv4_1_AN_grpmax_joint=24836;gnomADv4_1_AN_joint=96021;gnomADv4_1_AN_joint_XX=74232;gnomADv4_1_AN_joint_XY=21789;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=19349;gnomADv4_1_nhomalt_joint_XX=19349;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2919317 chrX_2919317_G_A G A 44 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADD_PHREDscore=2.997;CADD_Rawscore=0.274168;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||4/6|ENST00000217890.10:n.440-1090C>T|||||||rs111384251||-1||HGNC|HGNC:717|1||||||||Ensembl||G|G||||chrX:g.2919317G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||4/9|ENST00000381154.6:c.440-1090C>T|||||||rs111384251||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||G|G||||chrX:g.2919317G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs111384251|1439|-1||HGNC|HGNC:717|3||||||||Ensembl||G|G||||chrX:g.2919317G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs111384251|1064|-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2919317G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+9915C>T|||||||rs111384251||-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2919317G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs111384251|1359|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||G|G||||chrX:g.2919317G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||4/9|NM_001669.4:c.440-1090C>T|||||||rs111384251||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||G|G||||chrX:g.2919317G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||4/6|NM_009589.5:c.440-1090C>T|||||||rs111384251||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||G|G||||chrX:g.2919317G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||4/8|XM_005274514.3:c.440-1090C>T|||||||rs111384251||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||G|G||||chrX:g.2919317G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||4/9|XM_005274515.3:c.440-1090C>T|||||||rs111384251||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||G|G||||chrX:g.2919317G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||4/9|XM_047442108.1:c.302-1090C>T|||||||rs111384251||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||G|G||||chrX:g.2919317G>A|||||||||||||;SpliceAI=A|ARSD|0.00|0.00|0.00|0.00|4|48|4|48;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48730;gnomADv4_1_AC_joint_XX=36736;gnomADv4_1_AC_joint_XY=11994;gnomADv4_1_AF_grpmax_joint=0.518714;gnomADv4_1_AF_joint=0.463658;gnomADv4_1_AF_joint_XX=0.476015;gnomADv4_1_AF_joint_XY=0.429508;gnomADv4_1_AN_grpmax_joint=9645;gnomADv4_1_AN_joint=105099;gnomADv4_1_AN_joint_XX=77174;gnomADv4_1_AN_joint_XY=27925;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=8774;gnomADv4_1_nhomalt_joint_XX=8774;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2919396 chrX_2919396_G_A G A 46 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=46;CADD_PHREDscore=0.611;CADD_Rawscore=-0.143015;CSQ=A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||4/6|ENST00000217890.10:n.440-1169C>T|||||||rs73437538||-1||HGNC|HGNC:717|1||||||||Ensembl||G|G||||chrX:g.2919396G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||4/9|ENST00000381154.6:c.440-1169C>T|||||||rs73437538||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||G|G||||chrX:g.2919396G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs73437538|1518|-1||HGNC|HGNC:717|3||||||||Ensembl||G|G||||chrX:g.2919396G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs73437538|985|-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2919396G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+9836C>T|||||||rs73437538||-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2919396G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs73437538|1280|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||G|G||||chrX:g.2919396G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||4/9|NM_001669.4:c.440-1169C>T|||||||rs73437538||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||G|G||||chrX:g.2919396G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||4/6|NM_009589.5:c.440-1169C>T|||||||rs73437538||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||G|G||||chrX:g.2919396G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||4/8|XM_005274514.3:c.440-1169C>T|||||||rs73437538||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||G|G||||chrX:g.2919396G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||4/9|XM_005274515.3:c.440-1169C>T|||||||rs73437538||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||G|G||||chrX:g.2919396G>A|||||||||||||,A|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||4/9|XM_047442108.1:c.302-1169C>T|||||||rs73437538||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||G|G||||chrX:g.2919396G>A|||||||||||||;SpliceAI=A|ARSD|0.00|0.00|0.00|0.00|-12|25|11|-31;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48399;gnomADv4_1_AC_joint_XX=36799;gnomADv4_1_AC_joint_XY=11600;gnomADv4_1_AF_grpmax_joint=0.499366;gnomADv4_1_AF_joint=0.463122;gnomADv4_1_AF_joint_XX=0.477425;gnomADv4_1_AF_joint_XY=0.422925;gnomADv4_1_AN_grpmax_joint=9470;gnomADv4_1_AN_joint=104506;gnomADv4_1_AN_joint_XX=77078;gnomADv4_1_AN_joint_XY=27428;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=8823;gnomADv4_1_nhomalt_joint_XX=8823;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2919415 chrX_2919415_A_C A C 50 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=1.675;CADD_Rawscore=0.117066;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||4/6|ENST00000217890.10:n.439+1186T>G|||||||rs1637777||-1||HGNC|HGNC:717|1||||||||Ensembl||A|A||||chrX:g.2919415A>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||4/9|ENST00000381154.6:c.439+1186T>G|||||||rs1637777||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||A|A||||chrX:g.2919415A>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs1637777|1537|-1||HGNC|HGNC:717|3||||||||Ensembl||A|A||||chrX:g.2919415A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs1637777|966|-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2919415A>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+9817T>G|||||||rs1637777||-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2919415A>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs1637777|1261|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||A|A||||chrX:g.2919415A>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||4/9|NM_001669.4:c.439+1186T>G|||||||rs1637777||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||A|A||||chrX:g.2919415A>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||4/6|NM_009589.5:c.439+1186T>G|||||||rs1637777||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||A|A||||chrX:g.2919415A>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||4/8|XM_005274514.3:c.439+1186T>G|||||||rs1637777||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||A|A||||chrX:g.2919415A>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||4/9|XM_005274515.3:c.439+1186T>G|||||||rs1637777||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||A|A||||chrX:g.2919415A>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||4/9|XM_047442108.1:c.301+1186T>G|||||||rs1637777||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||A|A||||chrX:g.2919415A>C|||||||||||||;SpliceAI=C|ARSD|0.00|0.00|0.00|0.00|12|6|4|-50;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71576;gnomADv4_1_AC_joint_XX=54683;gnomADv4_1_AC_joint_XY=16893;gnomADv4_1_AF_grpmax_joint=0.908185;gnomADv4_1_AF_joint=0.691108;gnomADv4_1_AF_joint_XX=0.71063;gnomADv4_1_AF_joint_XY=0.63467;gnomADv4_1_AN_grpmax_joint=27795;gnomADv4_1_AN_joint=103567;gnomADv4_1_AN_joint_XX=76950;gnomADv4_1_AN_joint_XY=26617;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20294;gnomADv4_1_nhomalt_joint_XX=20294;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2919700 chrX_2919700_T_C T C 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=2.813;CADD_Rawscore=0.256237;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||4/6|ENST00000217890.10:n.439+901A>G|||||||rs1637778||-1||HGNC|HGNC:717|1||||||||Ensembl||T|T||||chrX:g.2919700T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||4/9|ENST00000381154.6:c.439+901A>G|||||||rs1637778||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||T|T||||chrX:g.2919700T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs1637778|1822|-1||HGNC|HGNC:717|3||||||||Ensembl||T|T||||chrX:g.2919700T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs1637778|681|-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2919700T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+9532A>G|||||||rs1637778||-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2919700T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs1637778|976|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||T|T||||chrX:g.2919700T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||4/9|NM_001669.4:c.439+901A>G|||||||rs1637778||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||T|T||||chrX:g.2919700T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||4/6|NM_009589.5:c.439+901A>G|||||||rs1637778||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||T|T||||chrX:g.2919700T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||4/8|XM_005274514.3:c.439+901A>G|||||||rs1637778||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||T|T||||chrX:g.2919700T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||4/9|XM_005274515.3:c.439+901A>G|||||||rs1637778||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||T|T||||chrX:g.2919700T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||4/9|XM_047442108.1:c.301+901A>G|||||||rs1637778||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||T|T||||chrX:g.2919700T>C|||||||||||||;SpliceAI=C|ARSD|0.00|0.00|0.00|0.00|0|-18|1|-18;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71653;gnomADv4_1_AC_joint_XX=50906;gnomADv4_1_AC_joint_XY=20747;gnomADv4_1_AF_grpmax_joint=0.870772;gnomADv4_1_AF_joint=0.652304;gnomADv4_1_AF_joint_XX=0.654891;gnomADv4_1_AF_joint_XY=0.646042;gnomADv4_1_AN_grpmax_joint=3459;gnomADv4_1_AN_joint=109846;gnomADv4_1_AN_joint_XX=77732;gnomADv4_1_AN_joint_XY=32114;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16921;gnomADv4_1_nhomalt_joint_XX=16921;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2919812 chrX_2919812_TGTTGTTGAAA_T TGTTGTTGAAA T 41 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=41;CADDIndel_PHREDscore=0.863;CADDIndel_Rawscore=-0.055855;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||4/6|ENST00000217890.10:n.439+779_439+788del|||||||rs60125632||-1||HGNC|HGNC:717|1||||||||Ensembl||GTTGTTGAAA|GTTGTTGAAA||||chrX:g.2919813_2919822del|||||||||||||,-|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||4/9|ENST00000381154.6:c.439+779_439+788del|||||||rs60125632||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||GTTGTTGAAA|GTTGTTGAAA||||chrX:g.2919813_2919822del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs60125632|1935|-1||HGNC|HGNC:717|3||||||||Ensembl||GTTGTTGAAA|GTTGTTGAAA||||chrX:g.2919813_2919822del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs60125632|559|-1||HGNC|HGNC:717|2||||||||Ensembl||GTTGTTGAAA|GTTGTTGAAA||||chrX:g.2919813_2919822del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+9410_118+9419del|||||||rs60125632||-1||HGNC|HGNC:717|2||||||||Ensembl||GTTGTTGAAA|GTTGTTGAAA||||chrX:g.2919813_2919822del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs60125632|854|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||GTTGTTGAAA|GTTGTTGAAA||||chrX:g.2919813_2919822del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||4/9|NM_001669.4:c.439+779_439+788del|||||||rs60125632||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||GTTGTTGAAA|GTTGTTGAAA||||chrX:g.2919813_2919822del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||4/6|NM_009589.5:c.439+779_439+788del|||||||rs60125632||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||GTTGTTGAAA|GTTGTTGAAA||||chrX:g.2919813_2919822del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||4/8|XM_005274514.3:c.439+779_439+788del|||||||rs60125632||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||GTTGTTGAAA|GTTGTTGAAA||||chrX:g.2919813_2919822del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||4/9|XM_005274515.3:c.439+779_439+788del|||||||rs60125632||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||GTTGTTGAAA|GTTGTTGAAA||||chrX:g.2919813_2919822del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||4/9|XM_047442108.1:c.301+779_301+788del|||||||rs60125632||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||GTTGTTGAAA|GTTGTTGAAA||||chrX:g.2919813_2919822del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70918;gnomADv4_1_AC_joint_XX=50751;gnomADv4_1_AC_joint_XY=20167;gnomADv4_1_AF_grpmax_joint=0.866745;gnomADv4_1_AF_joint=0.646072;gnomADv4_1_AF_joint_XX=0.653048;gnomADv4_1_AF_joint_XY=0.629157;gnomADv4_1_AN_grpmax_joint=3422;gnomADv4_1_AN_joint=109768;gnomADv4_1_AN_joint_XX=77714;gnomADv4_1_AN_joint_XY=32054;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16831;gnomADv4_1_nhomalt_joint_XX=16831;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2919824 chrX_2919824_TC_T TC T 44 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADDIndel_PHREDscore=0.345;CADDIndel_Rawscore=-0.286773;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||4/6|ENST00000217890.10:n.439+776del|||||||rs56920949||-1||HGNC|HGNC:717|1||||||||Ensembl||C|C||||chrX:g.2919825del|||||||||||||,-|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||4/9|ENST00000381154.6:c.439+776del|||||||rs56920949||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||C|C||||chrX:g.2919825del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs56920949|1947|-1||HGNC|HGNC:717|3||||||||Ensembl||C|C||||chrX:g.2919825del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs56920949|556|-1||HGNC|HGNC:717|2||||||||Ensembl||C|C||||chrX:g.2919825del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+9407del|||||||rs56920949||-1||HGNC|HGNC:717|2||||||||Ensembl||C|C||||chrX:g.2919825del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs56920949|851|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||C|C||||chrX:g.2919825del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||4/9|NM_001669.4:c.439+776del|||||||rs56920949||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||C|C||||chrX:g.2919825del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||4/6|NM_009589.5:c.439+776del|||||||rs56920949||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||C|C||||chrX:g.2919825del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||4/8|XM_005274514.3:c.439+776del|||||||rs56920949||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||C|C||||chrX:g.2919825del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||4/9|XM_005274515.3:c.439+776del|||||||rs56920949||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||C|C||||chrX:g.2919825del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||4/9|XM_047442108.1:c.301+776del|||||||rs56920949||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||C|C||||chrX:g.2919825del|||||||||||||;SpliceAI=T|ARSD|0.00|0.00|0.00|0.00|-2|5|-13|4;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71076;gnomADv4_1_AC_joint_XX=50781;gnomADv4_1_AC_joint_XY=20295;gnomADv4_1_AF_grpmax_joint=0.870468;gnomADv4_1_AF_joint=0.648865;gnomADv4_1_AF_joint_XX=0.653451;gnomADv4_1_AF_joint_XY=0.637666;gnomADv4_1_AN_grpmax_joint=3420;gnomADv4_1_AN_joint=109539;gnomADv4_1_AN_joint_XX=77712;gnomADv4_1_AN_joint_XY=31827;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16843;gnomADv4_1_nhomalt_joint_XX=16843;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2922782 chrX_2922782_A_G A G 44 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=44;CADD_PHREDscore=1.598;CADD_Rawscore=0.104812;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||2/6|ENST00000217890.10:n.195-758T>C|||||||rs1637779||-1||HGNC|HGNC:717|1||||||||Ensembl||A|A||||chrX:g.2922782A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||2/9|ENST00000381154.6:c.195-758T>C|||||||rs1637779||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||A|A||||chrX:g.2922782A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000481340|protein_coding_CDS_not_defined||||||||||rs1637779|4904|-1||HGNC|HGNC:717|3||||||||Ensembl||A|A||||chrX:g.2922782A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||2/3|ENST00000494870.5:n.199-758T>C|||||||rs1637779||-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2922782A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+6450T>C|||||||rs1637779||-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2922782A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||3/4|ENST00000559324.1:c.*84+386T>C|||||||rs1637779||-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||A|A||||chrX:g.2922782A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||2/9|NM_001669.4:c.195-758T>C|||||||rs1637779||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||A|A||||chrX:g.2922782A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||2/6|NM_009589.5:c.195-758T>C|||||||rs1637779||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||A|A||||chrX:g.2922782A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||2/8|XM_005274514.3:c.195-758T>C|||||||rs1637779||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||A|A||||chrX:g.2922782A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||2/9|XM_005274515.3:c.195-758T>C|||||||rs1637779||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||A|A||||chrX:g.2922782A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||2/9|XM_047442108.1:c.57-758T>C|||||||rs1637779||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||A|A||||chrX:g.2922782A>G|||||||||||||;SpliceAI=G|ARSD|0.00|0.00|0.00|0.00|2|28|-8|28;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000481340,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69212;gnomADv4_1_AC_joint_XX=54373;gnomADv4_1_AC_joint_XY=14839;gnomADv4_1_AF_grpmax_joint=0.912377;gnomADv4_1_AF_joint=0.710457;gnomADv4_1_AF_joint_XX=0.718649;gnomADv4_1_AF_joint_XY=0.681971;gnomADv4_1_AN_grpmax_joint=25838;gnomADv4_1_AN_joint=97419;gnomADv4_1_AN_joint_XX=75660;gnomADv4_1_AN_joint_XY=21759;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=20288;gnomADv4_1_nhomalt_joint_XX=20288;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2923884 chrX_2923884_C_T C T 55 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.831;CADD_Rawscore=-0.065321;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||2/6|ENST00000217890.10:n.194+1732G>A|||||||rs1627688||-1||HGNC|HGNC:717|1||||||||Ensembl||C|C||||chrX:g.2923884C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||2/9|ENST00000381154.6:c.194+1732G>A|||||||rs1627688||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||C|C||||chrX:g.2923884C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||2/3|ENST00000494870.5:n.198+1732G>A|||||||rs1627688||-1||HGNC|HGNC:717|2||||||||Ensembl||C|C||||chrX:g.2923884C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+5348G>A|||||||rs1627688||-1||HGNC|HGNC:717|2||||||||Ensembl||C|C||||chrX:g.2923884C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||2/4|ENST00000559324.1:c.195-578G>A|||||||rs1627688||-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||C|C||||chrX:g.2923884C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||2/9|NM_001669.4:c.194+1732G>A|||||||rs1627688||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||C|C||||chrX:g.2923884C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||2/6|NM_009589.5:c.194+1732G>A|||||||rs1627688||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||C|C||||chrX:g.2923884C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||2/8|XM_005274514.3:c.194+1732G>A|||||||rs1627688||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||C|C||||chrX:g.2923884C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||2/9|XM_005274515.3:c.194+1732G>A|||||||rs1627688||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||C|C||||chrX:g.2923884C>T|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||2/9|XM_047442108.1:c.56+1732G>A|||||||rs1627688||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||C|C||||chrX:g.2923884C>T|||||||||||||;SpliceAI=T|ARSD|0.00|0.00|0.00|0.00|-26|-45|3|1;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=51512;gnomADv4_1_AC_joint_XX=36381;gnomADv4_1_AC_joint_XY=15131;gnomADv4_1_AF_grpmax_joint=0.531339;gnomADv4_1_AF_joint=0.463412;gnomADv4_1_AF_joint_XX=0.467923;gnomADv4_1_AF_joint_XY=0.452915;gnomADv4_1_AN_grpmax_joint=10498;gnomADv4_1_AN_joint=111158;gnomADv4_1_AN_joint_XX=77750;gnomADv4_1_AN_joint_XY=33408;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=8600;gnomADv4_1_nhomalt_joint_XX=8600;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2923903 chrX_2923903_T_C T C 50 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=0.138;CADD_Rawscore=-0.525806;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||2/6|ENST00000217890.10:n.194+1713A>G|||||||rs1698814||-1||HGNC|HGNC:717|1||||||||Ensembl||T|T||||chrX:g.2923903T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||2/9|ENST00000381154.6:c.194+1713A>G|||||||rs1698814||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||T|T||||chrX:g.2923903T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||2/3|ENST00000494870.5:n.198+1713A>G|||||||rs1698814||-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2923903T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+5329A>G|||||||rs1698814||-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2923903T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||2/4|ENST00000559324.1:c.195-597A>G|||||||rs1698814||-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||T|T||||chrX:g.2923903T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||2/9|NM_001669.4:c.194+1713A>G|||||||rs1698814||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||T|T||||chrX:g.2923903T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||2/6|NM_009589.5:c.194+1713A>G|||||||rs1698814||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||T|T||||chrX:g.2923903T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||2/8|XM_005274514.3:c.194+1713A>G|||||||rs1698814||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||T|T||||chrX:g.2923903T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||2/9|XM_005274515.3:c.194+1713A>G|||||||rs1698814||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||T|T||||chrX:g.2923903T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||2/9|XM_047442108.1:c.56+1713A>G|||||||rs1698814||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||T|T||||chrX:g.2923903T>C|||||||||||||;SpliceAI=C|ARSD|0.00|0.00|0.00|0.00|41|-24|41|-24;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52771;gnomADv4_1_AC_joint_XX=37281;gnomADv4_1_AC_joint_XY=15490;gnomADv4_1_AF_grpmax_joint=0.536045;gnomADv4_1_AF_joint=0.475038;gnomADv4_1_AF_joint_XX=0.479572;gnomADv4_1_AF_joint_XY=0.464468;gnomADv4_1_AN_grpmax_joint=10473;gnomADv4_1_AN_joint=111088;gnomADv4_1_AN_joint_XX=77738;gnomADv4_1_AN_joint_XY=33350;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=amr;gnomADv4_1_nhomalt_joint=9038;gnomADv4_1_nhomalt_joint_XX=9038;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2925098 chrX_2925098_T_C T C 46 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=46;CADD_PHREDscore=2.614;CADD_Rawscore=0.235829;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||2/6|ENST00000217890.10:n.194+518A>G|||||||rs1637781||-1||HGNC|HGNC:717|1||||||||Ensembl||T|T||||chrX:g.2925098T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||2/9|ENST00000381154.6:c.194+518A>G|||||||rs1637781||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||T|T||||chrX:g.2925098T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||2/3|ENST00000494870.5:n.198+518A>G|||||||rs1637781||-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2925098T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+4134A>G|||||||rs1637781||-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2925098T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||2/4|ENST00000559324.1:c.194+518A>G|||||||rs1637781||-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||T|T||||chrX:g.2925098T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||2/9|NM_001669.4:c.194+518A>G|||||||rs1637781||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||T|T||||chrX:g.2925098T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||2/6|NM_009589.5:c.194+518A>G|||||||rs1637781||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||T|T||||chrX:g.2925098T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||2/8|XM_005274514.3:c.194+518A>G|||||||rs1637781||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||T|T||||chrX:g.2925098T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||2/9|XM_005274515.3:c.194+518A>G|||||||rs1637781||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||T|T||||chrX:g.2925098T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||2/9|XM_047442108.1:c.56+518A>G|||||||rs1637781||-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||T|T||||chrX:g.2925098T>C|||1||||||||||;SpliceAI=C|ARSD|0.00|0.00|0.01|0.00|-22|-27|-22|8;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68937;gnomADv4_1_AC_joint_XX=48237;gnomADv4_1_AC_joint_XY=20700;gnomADv4_1_AF_grpmax_joint=0.897977;gnomADv4_1_AF_joint=0.617931;gnomADv4_1_AF_joint_XX=0.620252;gnomADv4_1_AF_joint_XY=0.612589;gnomADv4_1_AN_grpmax_joint=3509;gnomADv4_1_AN_joint=111561;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=33791;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15138;gnomADv4_1_nhomalt_joint_XX=15138;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2927240 chrX_2927240_C_CT C CT 47 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADDIndel_PHREDscore=0.99;CADDIndel_Rawscore=-0.020405;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||1/6|ENST00000217890.10:n.45-1476dup|||||||rs11403125||-1||HGNC|HGNC:717|1||||||||Ensembl|||||||chrX:g.2927250dup|||||||||||||,T|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||1/9|ENST00000381154.6:c.45-1476dup|||||||rs11403125||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl|||||||chrX:g.2927250dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||1/3|ENST00000494870.5:n.49-1476dup|||||||rs11403125||-1||HGNC|HGNC:717|2||||||||Ensembl|||||||chrX:g.2927250dup|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+1991dup|||||||rs11403125||-1||HGNC|HGNC:717|2||||||||Ensembl|||||||chrX:g.2927250dup|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||1/4|ENST00000559324.1:c.45-1476dup|||||||rs11403125||-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl|||||||chrX:g.2927250dup|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||1/9|NM_001669.4:c.45-1476dup|||||||rs11403125||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq|||||||chrX:g.2927250dup|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||1/6|NM_009589.5:c.45-1476dup|||||||rs11403125||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq|||||||chrX:g.2927250dup|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||1/8|XM_005274514.3:c.45-1476dup|||||||rs11403125||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq|||||||chrX:g.2927250dup|||||||||||||,T|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||1/9|XM_005274515.3:c.45-1476dup|||||||rs11403125||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq|||||||chrX:g.2927250dup|||||||||||||,T|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||||||||||rs11403125|1362|-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq|||||||chrX:g.2927250dup|||||||||||||;SpliceAI=CT|ARSD|0.00|0.00|0.00|0.00|-39|-35|-4|26;TYPE=INDEL;VEP_Allele=T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=57684;gnomADv4_1_AC_joint_XX=44254;gnomADv4_1_AC_joint_XY=13430;gnomADv4_1_AF_grpmax_joint=0.850127;gnomADv4_1_AF_joint=0.574124;gnomADv4_1_AF_joint_XX=0.582949;gnomADv4_1_AF_joint_XY=0.546846;gnomADv4_1_AN_grpmax_joint=3156;gnomADv4_1_AN_joint=100473;gnomADv4_1_AN_joint_XX=75914;gnomADv4_1_AN_joint_XY=24559;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=12995;gnomADv4_1_nhomalt_joint_XX=12995;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2928624 chrX_2928624_G_C G C 38 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=1.0;AF_XX=.;AF_XY=1.0;AN=1;AN_XX=0;AN_XY=1;AQ=38;CADD_PHREDscore=3.712;CADD_Rawscore=0.339705;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||1/6|ENST00000217890.10:n.44+608C>G|||||||rs5939401||-1||HGNC|HGNC:717|1||||||||Ensembl||G|G||||chrX:g.2928624G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||1/9|ENST00000381154.6:c.44+608C>G|||||||rs5939401||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||G|G||||chrX:g.2928624G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||1/3|ENST00000494870.5:n.48+608C>G|||||||rs5939401||-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2928624G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+608C>G|||||||rs5939401||-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2928624G>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||1/4|ENST00000559324.1:c.44+608C>G|||||||rs5939401||-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||G|G||||chrX:g.2928624G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||1/9|NM_001669.4:c.44+608C>G|||||||rs5939401||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||G|G||||chrX:g.2928624G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||1/6|NM_009589.5:c.44+608C>G|||||||rs5939401||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||G|G||||chrX:g.2928624G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||1/8|XM_005274514.3:c.44+608C>G|||||||rs5939401||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||G|G||||chrX:g.2928624G>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||1/9|XM_005274515.3:c.44+608C>G|||||||rs5939401||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||G|G||||chrX:g.2928624G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||||||||||rs5939401|2746|-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||G|G||||chrX:g.2928624G>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C9SS|enhancer||||||||||rs5939401|||||||||||||||||||||chrX:g.2928624G>C|||||||||||||;SpliceAI=C|ARSD|0.00|0.00|0.00|0.00|31|-40|1|-40;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1,ENSRX_C9SS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414,.;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=43478;gnomADv4_1_AC_joint_XX=35003;gnomADv4_1_AC_joint_XY=8475;gnomADv4_1_AF_grpmax_joint=0.534759;gnomADv4_1_AF_joint=0.463414;gnomADv4_1_AF_joint_XX=0.478523;gnomADv4_1_AF_joint_XY=0.409955;gnomADv4_1_AN_grpmax_joint=187;gnomADv4_1_AN_joint=93821;gnomADv4_1_AN_joint_XX=73148;gnomADv4_1_AN_joint_XY=20673;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8859;gnomADv4_1_nhomalt_joint_XX=8859;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2928661 chrX_2928661_A_G A G 41 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.666667;AF_XX=0.5;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=41;CADD_PHREDscore=6.413;CADD_Rawscore=0.59565;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||1/6|ENST00000217890.10:n.44+571T>C|||||||rs139978659||-1||HGNC|HGNC:717|1||||||||Ensembl||A|A||||chrX:g.2928661A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||1/9|ENST00000381154.6:c.44+571T>C|||||||rs139978659||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||A|A||||chrX:g.2928661A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||1/3|ENST00000494870.5:n.48+571T>C|||||||rs139978659||-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2928661A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+571T>C|||||||rs139978659||-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2928661A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||1/4|ENST00000559324.1:c.44+571T>C|||||||rs139978659||-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||A|A||||chrX:g.2928661A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||1/9|NM_001669.4:c.44+571T>C|||||||rs139978659||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||A|A||||chrX:g.2928661A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||1/6|NM_009589.5:c.44+571T>C|||||||rs139978659||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||A|A||||chrX:g.2928661A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||1/8|XM_005274514.3:c.44+571T>C|||||||rs139978659||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||A|A||||chrX:g.2928661A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||1/9|XM_005274515.3:c.44+571T>C|||||||rs139978659||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||A|A||||chrX:g.2928661A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||||||||||rs139978659|2783|-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||A|A||||chrX:g.2928661A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C9SS|enhancer||||||||||rs139978659|||||||||||||||||||||chrX:g.2928661A>G|||||||||||||;SpliceAI=G|ARSD|0.00|0.00|0.00|0.00|-34|9|38|-23;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1,ENSRX_C9SS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414,.;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=32140;gnomADv4_1_AC_joint_XX=26929;gnomADv4_1_AC_joint_XY=5211;gnomADv4_1_AF_grpmax_joint=0.568981;gnomADv4_1_AF_joint=0.433294;gnomADv4_1_AF_joint_XX=0.427662;gnomADv4_1_AF_joint_XY=0.464936;gnomADv4_1_AN_grpmax_joint=1109;gnomADv4_1_AN_joint=74176;gnomADv4_1_AN_joint_XX=62968;gnomADv4_1_AN_joint_XY=11208;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5212;gnomADv4_1_nhomalt_joint_XX=5212;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2928672 chrX_2928672_TG_T TG T 35 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.666667;AF_XX=0.5;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=35;CADDIndel_PHREDscore=1.945;CADDIndel_Rawscore=0.156582;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||1/6|ENST00000217890.10:n.44+559del|||||||rs767129994||-1||HGNC|HGNC:717|1||||||||Ensembl||G|G||||chrX:g.2928678del|||||||||||||,-|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||1/9|ENST00000381154.6:c.44+559del|||||||rs767129994||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||G|G||||chrX:g.2928678del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||1/3|ENST00000494870.5:n.48+559del|||||||rs767129994||-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2928678del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+559del|||||||rs767129994||-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2928678del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||1/4|ENST00000559324.1:c.44+559del|||||||rs767129994||-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||G|G||||chrX:g.2928678del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||1/9|NM_001669.4:c.44+559del|||||||rs767129994||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||G|G||||chrX:g.2928678del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||1/6|NM_009589.5:c.44+559del|||||||rs767129994||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||G|G||||chrX:g.2928678del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||1/8|XM_005274514.3:c.44+559del|||||||rs767129994||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||G|G||||chrX:g.2928678del|||||||||||||,-|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||1/9|XM_005274515.3:c.44+559del|||||||rs767129994||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||G|G||||chrX:g.2928678del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||||||||||rs767129994|2795|-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||G|G||||chrX:g.2928678del|||||||||||||,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C9SS|enhancer||||||||||rs767129994|||||||||||||||||||||chrX:g.2928678del|||||||||||||;SpliceAI=T|ARSD|0.02|0.00|0.00|0.00|-2|-45|-34|-9;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1,ENSRX_C9SS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414,.;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=23007;gnomADv4_1_AC_joint_XX=19516;gnomADv4_1_AC_joint_XY=3491;gnomADv4_1_AF_grpmax_joint=0.554249;gnomADv4_1_AF_joint=0.457277;gnomADv4_1_AF_joint_XX=0.441099;gnomADv4_1_AF_joint_XY=0.575218;gnomADv4_1_AN_grpmax_joint=28904;gnomADv4_1_AN_joint=50313;gnomADv4_1_AN_joint_XX=44244;gnomADv4_1_AN_joint_XY=6069;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=3389;gnomADv4_1_nhomalt_joint_XX=3389;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2928976 chrX_2928976_T_C T C 55 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=4.268;CADD_Rawscore=0.389066;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||1/6|ENST00000217890.10:n.44+256A>G|||||||rs3747393||-1||HGNC|HGNC:717|1||||||||Ensembl||T|T||||chrX:g.2928976T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||1/9|ENST00000381154.6:c.44+256A>G|||||||rs3747393||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||T|T||||chrX:g.2928976T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||1/3|ENST00000494870.5:n.48+256A>G|||||||rs3747393||-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2928976T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+256A>G|||||||rs3747393||-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2928976T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||1/4|ENST00000559324.1:c.44+256A>G|||||||rs3747393||-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||T|T||||chrX:g.2928976T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||1/9|NM_001669.4:c.44+256A>G|||||||rs3747393||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||T|T||||chrX:g.2928976T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||1/6|NM_009589.5:c.44+256A>G|||||||rs3747393||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||T|T||||chrX:g.2928976T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||1/8|XM_005274514.3:c.44+256A>G|||||||rs3747393||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||T|T||||chrX:g.2928976T>C|||||||||||||,C|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||1/9|XM_005274515.3:c.44+256A>G|||||||rs3747393||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||T|T||||chrX:g.2928976T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||||||||||rs3747393|3098|-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||T|T||||chrX:g.2928976T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C9SS|enhancer||||||||||rs3747393|||||||||||||||||||||chrX:g.2928976T>C|||||||||||||;SpliceAI=C|ARSD|0.00|0.00|0.00|0.00|2|-15|28|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000559324,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1,ENSRX_C9SS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,414,414,414,414,414,.;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,ARSD,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=54032;gnomADv4_1_AC_joint_XX=37440;gnomADv4_1_AC_joint_XY=16592;gnomADv4_1_AF_grpmax_joint=0.846087;gnomADv4_1_AF_joint=0.487064;gnomADv4_1_AF_joint_XX=0.481791;gnomADv4_1_AF_joint_XY=0.499398;gnomADv4_1_AN_grpmax_joint=3437;gnomADv4_1_AN_joint=110934;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=33224;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=9774;gnomADv4_1_nhomalt_joint_XX=9774;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2929092 chrX_2929092_A_G A G 52 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=1.125;CADD_Rawscore=0.012721;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||1/6|ENST00000217890.10:n.44+140T>C|||||||rs3747394||-1||HGNC|HGNC:717|1||||||||Ensembl||A|A||||chrX:g.2929092A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||1/9|ENST00000381154.6:c.44+140T>C|||||||rs3747394||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||A|A||||chrX:g.2929092A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||1/3|ENST00000494870.5:n.48+140T>C|||||||rs3747394||-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2929092A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+140T>C|||||||rs3747394||-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2929092A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||1/4|ENST00000559324.1:c.44+140T>C|||||||rs3747394||-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||A|A||||chrX:g.2929092A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||||||||||rs3747394|4953|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2929092A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||||||||||rs3747394|4953|-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||A|A||1||chrX:g.2929092A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||||||||||rs3747394|4953|-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2929092A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||||||||||rs3747394|4953|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2929092A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||||||||||rs3747394|4953|-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||A|A||1||chrX:g.2929092A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||||||||||rs3747394|4953|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||A|A||1||chrX:g.2929092A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||||||||||rs3747394|4953|-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||A|A||1||chrX:g.2929092A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||1/9|NM_001669.4:c.44+140T>C|||||||rs3747394||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||A|A||||chrX:g.2929092A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||1/6|NM_009589.5:c.44+140T>C|||||||rs3747394||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||A|A||||chrX:g.2929092A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||1/8|XM_005274514.3:c.44+140T>C|||||||rs3747394||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||A|A||||chrX:g.2929092A>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||1/9|XM_005274515.3:c.44+140T>C|||||||rs3747394||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||A|A||||chrX:g.2929092A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||||||||||rs3747394|3214|-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||A|A||||chrX:g.2929092A>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C9SS|enhancer||||||||||rs3747394|||||||||||||||||||||chrX:g.2929092A>G|||||||||||||;SpliceAI=G|ARSD|0.00|0.00|0.00|0.00|-40|2|36|-17;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000559324,ENST00000681963,ENST00000682184,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000684117,ENST00000684364,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1,ENSRX_C9SS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,414,414,414,414,414,.;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSD,ARSD,ARSD,ARSD,ARSD,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=266909;gnomADv4_1_AC_joint_XX=196837;gnomADv4_1_AC_joint_XY=70072;gnomADv4_1_AF_grpmax_joint=0.848882;gnomADv4_1_AF_joint=0.484729;gnomADv4_1_AF_joint_XX=0.475764;gnomADv4_1_AF_joint_XY=0.511818;gnomADv4_1_AN_grpmax_joint=21460;gnomADv4_1_AN_joint=550636;gnomADv4_1_AN_joint_XX=413728;gnomADv4_1_AN_joint_XY=136908;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=48534;gnomADv4_1_nhomalt_joint_XX=48534;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2929116 chrX_2929116_C_G C G 48 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.666667;AF_XX=0.5;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=48;CADD_PHREDscore=3.065;CADD_Rawscore=0.280672;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||1/6|ENST00000217890.10:n.44+116G>C|||||||rs3747395||-1||HGNC|HGNC:717|1||||||||Ensembl||C|C||||chrX:g.2929116C>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||1/9|ENST00000381154.6:c.44+116G>C|||||||rs3747395||-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||C|C||||chrX:g.2929116C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||1/3|ENST00000494870.5:n.48+116G>C|||||||rs3747395||-1||HGNC|HGNC:717|2||||||||Ensembl||C|C||||chrX:g.2929116C>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||1/2|ENST00000495294.1:n.118+116G>C|||||||rs3747395||-1||HGNC|HGNC:717|2||||||||Ensembl||C|C||||chrX:g.2929116C>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||1/4|ENST00000559324.1:c.44+116G>C|||||||rs3747395||-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||C|C||||chrX:g.2929116C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||||||||||rs3747395|4929|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2929116C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||||||||||rs3747395|4929|-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||C|C||1||chrX:g.2929116C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||||||||||rs3747395|4929|-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2929116C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||||||||||rs3747395|4929|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2929116C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||||||||||rs3747395|4929|-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2929116C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||||||||||rs3747395|4929|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2929116C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||||||||||rs3747395|4929|-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2929116C>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||1/9|NM_001669.4:c.44+116G>C|||||||rs3747395||-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||C|C||||chrX:g.2929116C>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||1/6|NM_009589.5:c.44+116G>C|||||||rs3747395||-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||C|C||||chrX:g.2929116C>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||1/8|XM_005274514.3:c.44+116G>C|||||||rs3747395||-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||C|C||||chrX:g.2929116C>G|||||||||||||,G|intron_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||1/9|XM_005274515.3:c.44+116G>C|||||||rs3747395||-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||C|C||||chrX:g.2929116C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||||||||||rs3747395|3238|-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||C|C||||chrX:g.2929116C>G|||||||||||||,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRX_C9SS|enhancer||||||||||rs3747395|||||||||||||||||||||chrX:g.2929116C>G|||||||||||||;SpliceAI=G|ARSD|0.00|0.00|0.01|0.00|-22|-36|-31|0;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000217890,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000559324,ENST00000681963,ENST00000682184,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000684117,ENST00000684364,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_047442108.1,ENSRX_C9SS;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,414,414,414,414,414,.;VEP_SYMBOL=ARSD,ARSD,ARSD,ARSD,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSD,ARSD,ARSD,ARSD,ARSD,.;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=334103;gnomADv4_1_AC_joint_XX=245561;gnomADv4_1_AC_joint_XY=88542;gnomADv4_1_AF_grpmax_joint=0.783312;gnomADv4_1_AF_joint=0.460248;gnomADv4_1_AF_joint_XX=0.453637;gnomADv4_1_AF_joint_XY=0.479632;gnomADv4_1_AN_grpmax_joint=22567;gnomADv4_1_AN_joint=725920;gnomADv4_1_AN_joint_XX=541316;gnomADv4_1_AN_joint_XY=184604;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=57671;gnomADv4_1_nhomalt_joint_XX=57671;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2930368 chrX_2930368_T_C T C 51 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=0.65;CADD_Rawscore=-0.127353;CSQ=C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||||||||||rs6567682|1093|-1||HGNC|HGNC:717|1||||||||Ensembl||T|T||||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||||||||||rs6567682|4153|-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||||||||||rs6567682|1029|-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||T|T||||chrX:g.2930368T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs6567682|1089|-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2930368T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||||||||||rs6567682|1019|-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||||||||||rs6567682|4152|-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||||||||||rs6567682|4443|-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs6567682|1029|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||T|T||||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||||||||||rs6567682|4464|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||||||||||rs6567682|4272|-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||||||||||rs6567682|4290|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||||||||||rs6567682|4153|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||||||||||rs6567682|3677|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||||||||||rs6567682|3677|-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||||||||||rs6567682|4464|-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||||||||||rs6567682|3677|-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||||||||||rs6567682|3677|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||||||||||rs6567682|3677|-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||||||||||rs6567682|4464|-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||||||||||rs6567682|3677|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||||||||||rs6567682|3677|-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||||||||||rs6567682|4676|-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||||||||||rs6567682|4464|-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||||||||||rs6567682|4153|-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||T|T||||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||||||||||rs6567682|4153|-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||T|T||||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||||||||||rs6567682|4442|-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||T|T||||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||||||||||rs6567682|4442|-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||T|T||||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||||||||||rs6567682|4442|-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||T|T||||chrX:g.2930368T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||||||||||rs6567682|1029|-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||T|T||||chrX:g.2930368T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||||||||||rs6567682|1029|-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||T|T||||chrX:g.2930368T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||||||||||rs6567682|1029|-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||T|T||||chrX:g.2930368T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||||||||||rs6567682|1029|-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||T|T||||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||||||||||rs6567682|4153|-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||T|T||||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||||||||||rs6567682|4153|-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||T|T||||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||||||||||rs6567682|4153|-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||T|T||||chrX:g.2930368T>C|||1||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||||||||||rs6567682|4490|-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||T|T||||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||||||||||rs6567682|4153|-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||T|T||||chrX:g.2930368T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||||||||||rs6567682|4153|-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||T|T||||chrX:g.2930368T>C|||1||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381134,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000540563,ENST00000545496,ENST00000559324,ENST00000672027,ENST00000672097,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442108.1,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000157399,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,414,414,414,414,415,415,415,414,415,415;VEP_SYMBOL=ARSD,ARSL,ARSD,ARSD,ARSD,ARSL,ARSL,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSD,ARSD,ARSD,ARSD,ARSL,ARSL,ARSL,ARSD,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70695;gnomADv4_1_AC_joint_XX=50207;gnomADv4_1_AC_joint_XY=20488;gnomADv4_1_AF_grpmax_joint=0.911124;gnomADv4_1_AF_joint=0.645404;gnomADv4_1_AF_joint_XX=0.646498;gnomADv4_1_AF_joint_XY=0.642741;gnomADv4_1_AN_grpmax_joint=3443;gnomADv4_1_AN_joint=109536;gnomADv4_1_AN_joint_XX=77660;gnomADv4_1_AN_joint_XY=31876;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16402;gnomADv4_1_nhomalt_joint_XX=16402;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2930467 chrX_2930467_T_C T C 49 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=4.75;CADD_Rawscore=0.432675;CSQ=C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||||||||||rs3827454|1192|-1||HGNC|HGNC:717|1||||||||Ensembl||T|T||||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||||||||||rs3827454|4054|-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||||||||||rs3827454|1128|-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||T|T||||chrX:g.2930467T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs3827454|1188|-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2930467T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||||||||||rs3827454|1118|-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||||||||||rs3827454|4053|-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||||||||||rs3827454|4344|-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs3827454|1128|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||T|T||||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||||||||||rs3827454|4365|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||||||||||rs3827454|4173|-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||||||||||rs3827454|4191|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||||||||||rs3827454|4054|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||||||||||rs3827454|3578|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||||||||||rs3827454|3578|-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||||||||||rs3827454|4365|-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||||||||||rs3827454|3578|-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||||||||||rs3827454|3578|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||||||||||rs3827454|3578|-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||||||||||rs3827454|4365|-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||||||||||rs3827454|3578|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||||||||||rs3827454|3578|-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||||||||||rs3827454|4577|-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||||||||||rs3827454|4365|-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||||||||||rs3827454|4054|-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||T|T||||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||||||||||rs3827454|4054|-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||T|T||||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||||||||||rs3827454|4343|-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||T|T||||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||||||||||rs3827454|4343|-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||T|T||||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||||||||||rs3827454|4343|-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||T|T||||chrX:g.2930467T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||||||||||rs3827454|1128|-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||T|T||||chrX:g.2930467T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||||||||||rs3827454|1128|-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||T|T||||chrX:g.2930467T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||||||||||rs3827454|1128|-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||T|T||||chrX:g.2930467T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||||||||||rs3827454|1128|-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||T|T||||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||||||||||rs3827454|4054|-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||T|T||||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||||||||||rs3827454|4054|-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||T|T||||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||||||||||rs3827454|4054|-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||T|T||||chrX:g.2930467T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||||||||||rs3827454|4589|-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||T|T||||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||||||||||rs3827454|4054|-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||T|T||||chrX:g.2930467T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||||||||||rs3827454|4054|-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||T|T||||chrX:g.2930467T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381134,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000540563,ENST00000545496,ENST00000559324,ENST00000672027,ENST00000672097,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442108.1,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000157399,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,414,414,414,414,415,415,415,414,415,415;VEP_SYMBOL=ARSD,ARSL,ARSD,ARSD,ARSD,ARSL,ARSL,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSD,ARSD,ARSD,ARSD,ARSL,ARSL,ARSL,ARSD,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=63635;gnomADv4_1_AC_joint_XX=44615;gnomADv4_1_AC_joint_XY=19020;gnomADv4_1_AF_grpmax_joint=0.877148;gnomADv4_1_AF_joint=0.574987;gnomADv4_1_AF_joint_XX=0.574018;gnomADv4_1_AF_joint_XY=0.577273;gnomADv4_1_AN_grpmax_joint=3492;gnomADv4_1_AN_joint=110672;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=32948;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=13547;gnomADv4_1_nhomalt_joint_XX=13547;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2930794 chrX_2930794_C_G C G 52 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=1.127;CADD_Rawscore=0.013354;CSQ=G|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||||||||||rs3747397|1519|-1||HGNC|HGNC:717|1||||||||Ensembl||C|C||||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||||||||||rs3747397|3727|-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||||||||||rs3747397|1455|-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||C|C||||chrX:g.2930794C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs3747397|1515|-1||HGNC|HGNC:717|2||||||||Ensembl||C|C||||chrX:g.2930794C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||||||||||rs3747397|1445|-1||HGNC|HGNC:717|2||||||||Ensembl||C|C||||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||||||||||rs3747397|3726|-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||||||||||rs3747397|4017|-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs3747397|1455|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||C|C||||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||||||||||rs3747397|4038|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||||||||||rs3747397|3846|-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||||||||||rs3747397|3864|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||||||||||rs3747397|3727|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||||||||||rs3747397|3251|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||||||||||rs3747397|3251|-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||||||||||rs3747397|4038|-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||||||||||rs3747397|3251|-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||||||||||rs3747397|3251|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||||||||||rs3747397|3251|-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||||||||||rs3747397|4038|-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||||||||||rs3747397|3251|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||||||||||rs3747397|3251|-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||||||||||rs3747397|4250|-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||||||||||rs3747397|4038|-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||||||||||rs3747397|3727|-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||C|C||||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||||||||||rs3747397|3727|-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||C|C||||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||||||||||rs3747397|4016|-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||C|C||||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||||||||||rs3747397|4016|-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||C|C||||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||||||||||rs3747397|4016|-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||C|C||||chrX:g.2930794C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||||||||||rs3747397|1455|-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||C|C||||chrX:g.2930794C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||||||||||rs3747397|1455|-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||C|C||||chrX:g.2930794C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||||||||||rs3747397|1455|-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||C|C||||chrX:g.2930794C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||||||||||rs3747397|1455|-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||C|C||||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||||||||||rs3747397|3727|-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||C|C||||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||||||||||rs3747397|3727|-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||C|C||||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||||||||||rs3747397|3727|-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||C|C||||chrX:g.2930794C>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_047442108.1|protein_coding||||||||||rs3747397|4916|-1||EntrezGene|HGNC:717|||XP_047298064.1||||||RefSeq||C|C||||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||||||||||rs3747397|3727|-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||C|C||||chrX:g.2930794C>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||||||||||rs3747397|3727|-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||C|C||||chrX:g.2930794C>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000217890,ENST00000381134,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000540563,ENST00000545496,ENST00000559324,ENST00000672027,ENST00000672097,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442108.1,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000157399,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,414,414,414,414,415,415,415,414,415,415;VEP_SYMBOL=ARSD,ARSL,ARSD,ARSD,ARSD,ARSL,ARSL,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSD,ARSD,ARSD,ARSD,ARSL,ARSL,ARSL,ARSD,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52868;gnomADv4_1_AC_joint_XX=37332;gnomADv4_1_AC_joint_XY=15536;gnomADv4_1_AF_grpmax_joint=0.68741;gnomADv4_1_AF_joint=0.47544;gnomADv4_1_AF_joint_XX=0.479981;gnomADv4_1_AF_joint_XY=0.464871;gnomADv4_1_AN_grpmax_joint=52852;gnomADv4_1_AN_joint=111198;gnomADv4_1_AN_joint_XX=77778;gnomADv4_1_AN_joint_XY=33420;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11647;gnomADv4_1_nhomalt_joint_XX=11647;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2931596 chrX_2931596_T_C T C 50 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=1.333;CADD_Rawscore=0.057163;CSQ=C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||||||||||rs3761600|2321|-1||HGNC|HGNC:717|1||||||||Ensembl||T|T||||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||||||||||rs3761600|2925|-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||||||||||rs3761600|2257|-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||T|T||||chrX:g.2931596T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs3761600|2317|-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2931596T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||||||||||rs3761600|2247|-1||HGNC|HGNC:717|2||||||||Ensembl||T|T||||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||||||||||rs3761600|2924|-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||||||||||rs3761600|3215|-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs3761600|2257|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||T|T||||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||||||||||rs3761600|3236|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||||||||||rs3761600|3044|-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||||||||||rs3761600|3062|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||||||||||rs3761600|2925|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||||||||||rs3761600|2449|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||||||||||rs3761600|2449|-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||||||||||rs3761600|3236|-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||||||||||rs3761600|2449|-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||||||||||rs3761600|2449|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||||||||||rs3761600|2449|-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||||||||||rs3761600|4977|-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||||||||||rs3761600|3236|-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||||||||||rs3761600|2449|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||||||||||rs3761600|2449|-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||||||||||rs3761600|3448|-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||||||||||rs3761600|3236|-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||||||||||rs3761600|2925|-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||T|T||||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||||||||||rs3761600|2925|-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||T|T||||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||||||||||rs3761600|3214|-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||T|T||||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||||||||||rs3761600|3214|-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||T|T||||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||||||||||rs3761600|3214|-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||T|T||||chrX:g.2931596T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||||||||||rs3761600|2257|-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||T|T||||chrX:g.2931596T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||||||||||rs3761600|2257|-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||T|T||||chrX:g.2931596T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||||||||||rs3761600|2257|-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||T|T||||chrX:g.2931596T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||||||||||rs3761600|2257|-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||T|T||||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||||||||||rs3761600|2925|-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||T|T||||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||||||||||rs3761600|2925|-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||T|T||||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||||||||||rs3761600|2925|-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||T|T||||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||||||||||rs3761600|2925|-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||T|T||||chrX:g.2931596T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||||||||||rs3761600|2925|-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||T|T||||chrX:g.2931596T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381134,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000540563,ENST00000545496,ENST00000559324,ENST00000672027,ENST00000672097,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000157399,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,414,414,414,414,415,415,415,415,415;VEP_SYMBOL=ARSD,ARSL,ARSD,ARSD,ARSD,ARSL,ARSL,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSD,ARSD,ARSD,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=76009;gnomADv4_1_AC_joint_XX=54160;gnomADv4_1_AC_joint_XY=21849;gnomADv4_1_AF_grpmax_joint=0.912266;gnomADv4_1_AF_joint=0.694781;gnomADv4_1_AF_joint_XX=0.697201;gnomADv4_1_AF_joint_XY=0.688852;gnomADv4_1_AN_grpmax_joint=3465;gnomADv4_1_AN_joint=109400;gnomADv4_1_AN_joint_XX=77682;gnomADv4_1_AN_joint_XY=31718;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=19084;gnomADv4_1_nhomalt_joint_XX=19084;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2931718 chrX_2931718_T_TA T TA 42 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADDIndel_PHREDscore=1.954;CADDIndel_Rawscore=0.157722;CSQ=A|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||||||||||rs3842478|2443|-1||HGNC|HGNC:717|1||||||||Ensembl|||||||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||||||||||rs3842478|2802|-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||||||||||rs3842478|2379|-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl|||||||chrX:g.2931725dup|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs3842478|2439|-1||HGNC|HGNC:717|2||||||||Ensembl|||||||chrX:g.2931725dup|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||||||||||rs3842478|2369|-1||HGNC|HGNC:717|2||||||||Ensembl|||||||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||||||||||rs3842478|2801|-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||||||||||rs3842478|3092|-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs3842478|2379|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl|||||||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||||||||||rs3842478|3113|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||||||||||rs3842478|2921|-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||||||||||rs3842478|2939|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||||||||||rs3842478|2802|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||||||||||rs3842478|2326|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||||||||||rs3842478|2326|-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||||||||||rs3842478|3113|-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||||||||||rs3842478|2326|-1||HGNC|HGNC:719|||||||||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||||||||||rs3842478|2326|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||||||||||rs3842478|2326|-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||||||||||rs3842478|4854|-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||||||||||rs3842478|3113|-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||||||||||rs3842478|2326|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||||||||||rs3842478|2326|-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||||||||||rs3842478|3325|-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||||||||||rs3842478|3113|-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl|||||1||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||||||||||rs3842478|2802|-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq|||||||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||||||||||rs3842478|2802|-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq|||||||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||||||||||rs3842478|3091|-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq|||||||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||||||||||rs3842478|3091|-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq|||||||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||||||||||rs3842478|3091|-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq|||||||chrX:g.2931725dup|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||||||||||rs3842478|2379|-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq|||||||chrX:g.2931725dup|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||||||||||rs3842478|2379|-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq|||||||chrX:g.2931725dup|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||||||||||rs3842478|2379|-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq|||||||chrX:g.2931725dup|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||||||||||rs3842478|2379|-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq|||||||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||||||||||rs3842478|2802|-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq|||||||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||||||||||rs3842478|2802|-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq|||||||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||||||||||rs3842478|2802|-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq|||||||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||||||||||rs3842478|2802|-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq|||||||chrX:g.2931725dup|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||||||||||rs3842478|2802|-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq|||||||chrX:g.2931725dup|||||||||||||;TYPE=INDEL;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000217890,ENST00000381134,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000540563,ENST00000545496,ENST00000559324,ENST00000672027,ENST00000672097,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000157399,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,414,414,414,414,415,415,415,415,415;VEP_SYMBOL=ARSD,ARSL,ARSD,ARSD,ARSD,ARSL,ARSL,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSD,ARSD,ARSD,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=73849;gnomADv4_1_AC_joint_XX=53904;gnomADv4_1_AC_joint_XY=19945;gnomADv4_1_AF_grpmax_joint=0.908578;gnomADv4_1_AF_joint=0.689263;gnomADv4_1_AF_joint_XX=0.695931;gnomADv4_1_AF_joint_XY=0.671866;gnomADv4_1_AN_grpmax_joint=3369;gnomADv4_1_AN_joint=107142;gnomADv4_1_AN_joint_XX=77456;gnomADv4_1_AN_joint_XY=29686;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=18962;gnomADv4_1_nhomalt_joint_XX=18962;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2931940 chrX_2931940_C_T C T 48 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=1.854;CADD_Rawscore=0.143914;CSQ=T|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||||||||||rs1875648|2665|-1||HGNC|HGNC:717|1||||||||Ensembl||C|C||||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||||||||||rs1875648|2581|-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||||||||||rs1875648|2601|-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||C|C||||chrX:g.2931940C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs1875648|2661|-1||HGNC|HGNC:717|2||||||||Ensembl||C|C||||chrX:g.2931940C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||||||||||rs1875648|2591|-1||HGNC|HGNC:717|2||||||||Ensembl||C|C||||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||||||||||rs1875648|2580|-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||||||||||rs1875648|2871|-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs1875648|2601|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||C|C||||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||||||||||rs1875648|2892|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||||||||||rs1875648|2700|-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||||||||||rs1875648|2718|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||||||||||rs1875648|2581|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||||||||||rs1875648|2105|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||||||||||rs1875648|2105|-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||||||||||rs1875648|2892|-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||||||||||rs1875648|2105|-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||||||||||rs1875648|2105|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||||||||||rs1875648|2105|-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||||||||||rs1875648|4633|-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||||||||||rs1875648|2892|-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||||||||||rs1875648|2105|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||||||||||rs1875648|2105|-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||||||||||rs1875648|3104|-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||||||||||rs1875648|2892|-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||||||||||rs1875648|2581|-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||C|C||||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||||||||||rs1875648|2581|-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||C|C||||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||||||||||rs1875648|2870|-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||C|C||||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||||||||||rs1875648|2870|-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||C|C||||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||||||||||rs1875648|2870|-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||C|C||||chrX:g.2931940C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||||||||||rs1875648|2601|-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||C|C||||chrX:g.2931940C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||||||||||rs1875648|2601|-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||C|C||||chrX:g.2931940C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||||||||||rs1875648|2601|-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||C|C||||chrX:g.2931940C>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||||||||||rs1875648|2601|-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||C|C||||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||||||||||rs1875648|2581|-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||C|C||||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||||||||||rs1875648|2581|-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||C|C||||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||||||||||rs1875648|2581|-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||C|C||||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||||||||||rs1875648|2581|-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||C|C||||chrX:g.2931940C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||||||||||rs1875648|2581|-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||C|C||||chrX:g.2931940C>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000217890,ENST00000381134,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000540563,ENST00000545496,ENST00000559324,ENST00000672027,ENST00000672097,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000157399,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,414,414,414,414,415,415,415,415,415;VEP_SYMBOL=ARSD,ARSL,ARSD,ARSD,ARSD,ARSL,ARSL,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSD,ARSD,ARSD,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=62085;gnomADv4_1_AC_joint_XX=44079;gnomADv4_1_AC_joint_XY=18006;gnomADv4_1_AF_grpmax_joint=0.878199;gnomADv4_1_AF_joint=0.56737;gnomADv4_1_AF_joint_XX=0.567473;gnomADv4_1_AF_joint_XY=0.567118;gnomADv4_1_AN_grpmax_joint=3399;gnomADv4_1_AN_joint=109426;gnomADv4_1_AN_joint_XX=77676;gnomADv4_1_AN_joint_XY=31750;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14520;gnomADv4_1_nhomalt_joint_XX=14520;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2932265 chrX_2932265_G_C G C 49 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=0.029;CADD_Rawscore=-0.94972;CSQ=C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||||||||||rs67910854|2990|-1||HGNC|HGNC:717|1||||||||Ensembl||G|G||||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||||||||||rs67910854|2256|-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||||||||||rs67910854|2926|-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||G|G||||chrX:g.2932265G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs67910854|2986|-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2932265G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||||||||||rs67910854|2916|-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||||||||||rs67910854|2255|-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||||||||||rs67910854|2546|-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs67910854|2926|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||G|G||||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||||||||||rs67910854|2567|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||||||||||rs67910854|2375|-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||||||||||rs67910854|2393|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||||||||||rs67910854|2256|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||||||||||rs67910854|1780|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||||||||||rs67910854|1780|-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||||||||||rs67910854|2567|-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||||||||||rs67910854|1780|-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||||||||||rs67910854|1780|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||||||||||rs67910854|1780|-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||||||||||rs67910854|4308|-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||||||||||rs67910854|2567|-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||||||||||rs67910854|1780|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||||||||||rs67910854|1780|-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||||||||||rs67910854|2779|-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||||||||||rs67910854|2567|-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||||||||||rs67910854|2256|-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||G|G||||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||||||||||rs67910854|2256|-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||G|G||||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||||||||||rs67910854|2545|-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||G|G||||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||||||||||rs67910854|2545|-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||G|G||||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||||||||||rs67910854|2545|-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||G|G||||chrX:g.2932265G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||||||||||rs67910854|2926|-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||G|G||||chrX:g.2932265G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||||||||||rs67910854|2926|-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||G|G||||chrX:g.2932265G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||||||||||rs67910854|2926|-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||G|G||||chrX:g.2932265G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||||||||||rs67910854|2926|-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||G|G||||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||||||||||rs67910854|2256|-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||G|G||||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||||||||||rs67910854|2256|-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||G|G||||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||||||||||rs67910854|2256|-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||G|G||||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||||||||||rs67910854|2256|-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||G|G||||chrX:g.2932265G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||||||||||rs67910854|2256|-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||G|G||||chrX:g.2932265G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381134,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000540563,ENST00000545496,ENST00000559324,ENST00000672027,ENST00000672097,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000157399,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,414,414,414,414,415,415,415,415,415;VEP_SYMBOL=ARSD,ARSL,ARSD,ARSD,ARSD,ARSL,ARSL,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSD,ARSD,ARSD,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=74491;gnomADv4_1_AC_joint_XX=52475;gnomADv4_1_AC_joint_XY=22016;gnomADv4_1_AF_grpmax_joint=0.90802;gnomADv4_1_AF_joint=0.674066;gnomADv4_1_AF_joint_XX=0.67485;gnomADv4_1_AF_joint_XY=0.672203;gnomADv4_1_AN_grpmax_joint=3479;gnomADv4_1_AN_joint=110510;gnomADv4_1_AN_joint_XX=77758;gnomADv4_1_AN_joint_XY=32752;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=17873;gnomADv4_1_nhomalt_joint_XX=17873;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2932392 chrX_2932392_T_TTTGC T TTTGC 47 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADDIndel_PHREDscore=1.282;CADDIndel_Rawscore=0.046901;CSQ=TTGC|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||||||||||rs367976469|3117|-1||HGNC|HGNC:717|1||||||||Ensembl|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||||||||||rs367976469|2128|-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||||||||||rs367976469|3053|-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs367976469|3113|-1||HGNC|HGNC:717|2||||||||Ensembl|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||||||||||rs367976469|3043|-1||HGNC|HGNC:717|2||||||||Ensembl|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||||||||||rs367976469|2127|-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||||||||||rs367976469|2418|-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs367976469|3053|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||||||||||rs367976469|2439|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||||||||||rs367976469|2247|-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||||||||||rs367976469|2265|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||||||||||rs367976469|2128|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||||||||||rs367976469|1652|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||||||||||rs367976469|1652|-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||||||||||rs367976469|2439|-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||||||||||rs367976469|1652|-1||HGNC|HGNC:719|||||||||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||||||||||rs367976469|1652|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||||||||||rs367976469|1652|-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||||||||||rs367976469|4180|-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||||||||||rs367976469|2439|-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||||||||||rs367976469|1652|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||||||||||rs367976469|1652|-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||||||||||rs367976469|2651|-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||||||||||rs367976469|2439|-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl|||||1||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||||||||||rs367976469|2128|-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||||||||||rs367976469|2128|-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||||||||||rs367976469|2417|-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||||||||||rs367976469|2417|-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||||||||||rs367976469|2417|-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||||||||||rs367976469|3053|-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||||||||||rs367976469|3053|-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||||||||||rs367976469|3053|-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||||||||||rs367976469|3053|-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||||||||||rs367976469|2128|-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||||||||||rs367976469|2128|-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||||||||||rs367976469|2128|-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||||||||||rs367976469|2128|-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq|||||||chrX:g.2932394_2932395insGCTT|||||||||||||,TTGC|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||||||||||rs367976469|2128|-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq|||||||chrX:g.2932394_2932395insGCTT|||||||||||||;TYPE=INDEL;VEP_Allele=TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC,TTGC;VEP_Feature=ENST00000217890,ENST00000381134,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000540563,ENST00000545496,ENST00000559324,ENST00000672027,ENST00000672097,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000157399,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,414,414,414,414,415,415,415,415,415;VEP_SYMBOL=ARSD,ARSL,ARSD,ARSD,ARSD,ARSL,ARSL,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSD,ARSD,ARSD,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=67887;gnomADv4_1_AC_joint_XX=48579;gnomADv4_1_AC_joint_XY=19308;gnomADv4_1_AF_grpmax_joint=0.903583;gnomADv4_1_AF_joint=0.621602;gnomADv4_1_AF_joint_XX=0.626502;gnomADv4_1_AF_joint_XY=0.609604;gnomADv4_1_AN_grpmax_joint=3433;gnomADv4_1_AN_joint=109213;gnomADv4_1_AN_joint_XX=77540;gnomADv4_1_AN_joint_XY=31673;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15462;gnomADv4_1_nhomalt_joint_XX=15462;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2932402 chrX_2932402_T_TCTTTTTCCTTCCTG T TCTTTTTCCTTCCTG 42 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=42;CADDIndel_PHREDscore=1.76;CADDIndel_Rawscore=0.130225;CSQ=CTTTTTCCTTCCTG|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||||||||||rs201326439|3127|-1||HGNC|HGNC:717|1||||||||Ensembl|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||||||||||rs201326439|2118|-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||||||||||rs201326439|3063|-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs201326439|3123|-1||HGNC|HGNC:717|2||||||||Ensembl|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||||||||||rs201326439|3053|-1||HGNC|HGNC:717|2||||||||Ensembl|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||||||||||rs201326439|2117|-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||||||||||rs201326439|2408|-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs201326439|3063|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||||||||||rs201326439|2429|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||||||||||rs201326439|2237|-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||||||||||rs201326439|2255|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||||||||||rs201326439|2118|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||||||||||rs201326439|1642|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||||||||||rs201326439|1642|-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||||||||||rs201326439|2429|-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||||||||||rs201326439|1642|-1||HGNC|HGNC:719|||||||||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||||||||||rs201326439|1642|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||||||||||rs201326439|1642|-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||||||||||rs201326439|4170|-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||||||||||rs201326439|2429|-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||||||||||rs201326439|1642|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||||||||||rs201326439|1642|-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||||||||||rs201326439|2641|-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||||||||||rs201326439|2429|-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl|||||1||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||||||||||rs201326439|2118|-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||||||||||rs201326439|2118|-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||||||||||rs201326439|2407|-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||||||||||rs201326439|2407|-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||||||||||rs201326439|2407|-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||||||||||rs201326439|3063|-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||||||||||rs201326439|3063|-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||||||||||rs201326439|3063|-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||||||||||rs201326439|3063|-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||||||||||rs201326439|2118|-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||||||||||rs201326439|2118|-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||||||||||rs201326439|2118|-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||||||||||rs201326439|2118|-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||,CTTTTTCCTTCCTG|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||||||||||rs201326439|2118|-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq|||||||chrX:g.2932403_2932404insTTTTTCCTTCCTGC|||||||||||||;TYPE=INDEL;VEP_Allele=CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG,CTTTTTCCTTCCTG;VEP_Feature=ENST00000217890,ENST00000381134,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000540563,ENST00000545496,ENST00000559324,ENST00000672027,ENST00000672097,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000157399,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,414,414,414,414,415,415,415,415,415;VEP_SYMBOL=ARSD,ARSL,ARSD,ARSD,ARSD,ARSL,ARSL,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSD,ARSD,ARSD,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=68091;gnomADv4_1_AC_joint_XX=48623;gnomADv4_1_AC_joint_XY=19468;gnomADv4_1_AF_grpmax_joint=0.906414;gnomADv4_1_AF_joint=0.623727;gnomADv4_1_AF_joint_XX=0.626763;gnomADv4_1_AF_joint_XY=0.616271;gnomADv4_1_AN_grpmax_joint=3430;gnomADv4_1_AN_joint=109168;gnomADv4_1_AN_joint_XX=77578;gnomADv4_1_AN_joint_XY=31590;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15482;gnomADv4_1_nhomalt_joint_XX=15482;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2932488 chrX_2932488_G_A G A 49 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=1.276;CADD_Rawscore=0.045629;CSQ=A|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||||||||||rs11152554|3213|-1||HGNC|HGNC:717|1||||||||Ensembl||G|G||||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||||||||||rs11152554|2033|-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||||||||||rs11152554|3149|-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||G|G||||chrX:g.2932488G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs11152554|3209|-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2932488G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||||||||||rs11152554|3139|-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||||||||||rs11152554|2032|-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||||||||||rs11152554|2323|-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs11152554|3149|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||G|G||||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||||||||||rs11152554|2344|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||||||||||rs11152554|2152|-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||||||||||rs11152554|2170|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||||||||||rs11152554|2033|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||||||||||rs11152554|1557|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||||||||||rs11152554|1557|-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||||||||||rs11152554|2344|-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||||||||||rs11152554|1557|-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||||||||||rs11152554|1557|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||||||||||rs11152554|1557|-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||||||||||rs11152554|4085|-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||||||||||rs11152554|2344|-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||||||||||rs11152554|1557|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||||||||||rs11152554|1557|-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||||||||||rs11152554|2556|-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||||||||||rs11152554|2344|-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||||||||||rs11152554|2033|-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||G|G||||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||||||||||rs11152554|2033|-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||G|G||||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||||||||||rs11152554|2322|-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||G|G||||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||||||||||rs11152554|2322|-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||G|G||||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||||||||||rs11152554|2322|-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||G|G||||chrX:g.2932488G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||||||||||rs11152554|3149|-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||G|G||||chrX:g.2932488G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||||||||||rs11152554|3149|-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||G|G||||chrX:g.2932488G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||||||||||rs11152554|3149|-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||G|G||||chrX:g.2932488G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||||||||||rs11152554|3149|-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||G|G||||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||||||||||rs11152554|2033|-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||G|G||||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||||||||||rs11152554|2033|-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||G|G||||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||||||||||rs11152554|2033|-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||G|G||||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||||||||||rs11152554|2033|-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||G|G||||chrX:g.2932488G>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||||||||||rs11152554|2033|-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||G|G||||chrX:g.2932488G>A|||||||||||||;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000217890,ENST00000381134,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000540563,ENST00000545496,ENST00000559324,ENST00000672027,ENST00000672097,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000157399,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,414,414,414,414,415,415,415,415,415;VEP_SYMBOL=ARSD,ARSL,ARSD,ARSD,ARSD,ARSL,ARSL,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSD,ARSD,ARSD,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69288;gnomADv4_1_AC_joint_XX=48817;gnomADv4_1_AC_joint_XY=20471;gnomADv4_1_AF_grpmax_joint=0.90782;gnomADv4_1_AF_joint=0.627836;gnomADv4_1_AF_joint_XX=0.627936;gnomADv4_1_AF_joint_XY=0.627598;gnomADv4_1_AN_grpmax_joint=3504;gnomADv4_1_AN_joint=110360;gnomADv4_1_AN_joint_XX=77742;gnomADv4_1_AN_joint_XY=32618;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15577;gnomADv4_1_nhomalt_joint_XX=15577;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2932760 chrX_2932760_G_C G C 49 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=0.892;CADD_Rawscore=-0.047191;CSQ=C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||||||||||rs5982925|3485|-1||HGNC|HGNC:717|1||||||||Ensembl||G|G||||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||||||||||rs5982925|1761|-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||||||||||rs5982925|3421|-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||G|G||||chrX:g.2932760G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs5982925|3481|-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2932760G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||||||||||rs5982925|3411|-1||HGNC|HGNC:717|2||||||||Ensembl||G|G||||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||||||||||rs5982925|1760|-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||||||||||rs5982925|2051|-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs5982925|3421|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||G|G||||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||||||||||rs5982925|2072|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||||||||||rs5982925|1880|-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||||||||||rs5982925|1898|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||||||||||rs5982925|1761|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||||||||||rs5982925|1285|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||||||||||rs5982925|1285|-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||||||||||rs5982925|2072|-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||||||||||rs5982925|1285|-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||||||||||rs5982925|1285|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||||||||||rs5982925|1285|-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||||||||||rs5982925|3813|-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||||||||||rs5982925|2072|-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||||||||||rs5982925|1285|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||||||||||rs5982925|1285|-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||||||||||rs5982925|2284|-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||||||||||rs5982925|2072|-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||||||||||rs5982925|1761|-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||G|G||||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||||||||||rs5982925|1761|-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||G|G||||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||||||||||rs5982925|2050|-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||G|G||||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||||||||||rs5982925|2050|-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||G|G||||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||||||||||rs5982925|2050|-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||G|G||||chrX:g.2932760G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||||||||||rs5982925|3421|-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||G|G||||chrX:g.2932760G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||||||||||rs5982925|3421|-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||G|G||||chrX:g.2932760G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||||||||||rs5982925|3421|-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||G|G||||chrX:g.2932760G>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||||||||||rs5982925|3421|-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||G|G||||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||||||||||rs5982925|1761|-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||G|G||||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||||||||||rs5982925|1761|-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||G|G||||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||||||||||rs5982925|1761|-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||G|G||||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||||||||||rs5982925|1761|-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||G|G||||chrX:g.2932760G>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||||||||||rs5982925|1761|-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||G|G||||chrX:g.2932760G>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000217890,ENST00000381134,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000540563,ENST00000545496,ENST00000559324,ENST00000672027,ENST00000672097,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000157399,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,414,414,414,414,415,415,415,415,415;VEP_SYMBOL=ARSD,ARSL,ARSD,ARSD,ARSD,ARSL,ARSL,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSD,ARSD,ARSD,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=71990;gnomADv4_1_AC_joint_XX=50871;gnomADv4_1_AC_joint_XY=21119;gnomADv4_1_AF_grpmax_joint=0.906782;gnomADv4_1_AF_joint=0.653753;gnomADv4_1_AF_joint_XX=0.654407;gnomADv4_1_AF_joint_XY=0.652183;gnomADv4_1_AN_grpmax_joint=3465;gnomADv4_1_AN_joint=110118;gnomADv4_1_AN_joint_XX=77736;gnomADv4_1_AN_joint_XY=32382;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16819;gnomADv4_1_nhomalt_joint_XX=16819;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2932860 chrX_2932860_A_G A G 50 . AC=3;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=2;AF=0.75;AF_XX=0.5;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=2.878;CADD_Rawscore=0.262616;CSQ=G|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000217890|protein_coding_CDS_not_defined||||||||||rs5982926|3585|-1||HGNC|HGNC:717|1||||||||Ensembl||A|A||||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||||||||||rs5982926|1661|-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000381154|protein_coding||||||||||rs5982926|3521|-1||HGNC|HGNC:717|1|CCDS35196.1|ENSP00000370546|P51689.178|A0A140VK06.39|UPI0000070902|P51689-1||Ensembl||A|A||||chrX:g.2932860A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000494870|retained_intron||||||||||rs5982926|3581|-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2932860A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000495294|protein_coding_CDS_not_defined||||||||||rs5982926|3511|-1||HGNC|HGNC:717|2||||||||Ensembl||A|A||||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||||||||||rs5982926|1660|-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||||||||||rs5982926|1951|-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|ENSG00000006756|Transcript|ENST00000559324|nonsense_mediated_decay||||||||||rs5982926|3521|-1||HGNC|HGNC:717|4||ENSP00000453789||H0YMY1.60|UPI00022F8423|||Ensembl||A|A||||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||||||||||rs5982926|1972|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||||||||||rs5982926|1780|-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||||||||||rs5982926|1798|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||||||||||rs5982926|1661|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||||||||||rs5982926|1185|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||||||||||rs5982926|1185|-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||||||||||rs5982926|1972|-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||||||||||rs5982926|1185|-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||||||||||rs5982926|1185|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||||||||||rs5982926|1185|-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||||||||||rs5982926|3713|-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||||||||||rs5982926|1972|-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||||||||||rs5982926|1185|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||||||||||rs5982926|1185|-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||||||||||rs5982926|2184|-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||||||||||rs5982926|1972|-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||A|A||1||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||||||||||rs5982926|1661|-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||A|A||||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||||||||||rs5982926|1661|-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||A|A||||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||||||||||rs5982926|1950|-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||A|A||||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||||||||||rs5982926|1950|-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||A|A||||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||||||||||rs5982926|1950|-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||A|A||||chrX:g.2932860A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_001669.4|protein_coding||||||||||rs5982926|3521|-1||EntrezGene|HGNC:717|||NP_001660.2||||||RefSeq||A|A||||chrX:g.2932860A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|NM_009589.5|protein_coding||||||||||rs5982926|3521|-1||EntrezGene|HGNC:717|||NP_033667.2||||||RefSeq||A|A||||chrX:g.2932860A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274514.3|protein_coding||||||||||rs5982926|3521|-1||EntrezGene|HGNC:717|||XP_005274571.1||||||RefSeq||A|A||||chrX:g.2932860A>G|||||||||||||,G|upstream_gene_variant|MODIFIER|ARSD|414|Transcript|XM_005274515.3|protein_coding||||||||||rs5982926|3521|-1||EntrezGene|HGNC:717|||XP_005274572.1||||||RefSeq||A|A||||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||||||||||rs5982926|1661|-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||A|A||||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||||||||||rs5982926|1661|-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||A|A||||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||||||||||rs5982926|1661|-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||A|A||||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||||||||||rs5982926|1661|-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||A|A||||chrX:g.2932860A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||||||||||rs5982926|1661|-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||A|A||||chrX:g.2932860A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000217890,ENST00000381134,ENST00000381154,ENST00000494870,ENST00000495294,ENST00000540563,ENST00000545496,ENST00000559324,ENST00000672027,ENST00000672097,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,NM_001669.4,NM_009589.5,XM_005274514.3,XM_005274515.3,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000006756,ENSG00000157399,ENSG00000006756,ENSG00000006756,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000006756,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,414,414,414,414,415,415,415,415,415;VEP_SYMBOL=ARSD,ARSL,ARSD,ARSD,ARSD,ARSL,ARSL,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSD,ARSD,ARSD,ARSD,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70279;gnomADv4_1_AC_joint_XX=49611;gnomADv4_1_AC_joint_XY=20668;gnomADv4_1_AF_grpmax_joint=0.90693;gnomADv4_1_AF_joint=0.638013;gnomADv4_1_AF_joint_XX=0.638297;gnomADv4_1_AF_joint_XY=0.637331;gnomADv4_1_AN_grpmax_joint=3492;gnomADv4_1_AN_joint=110153;gnomADv4_1_AN_joint_XX=77724;gnomADv4_1_AN_joint_XY=32429;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16093;gnomADv4_1_nhomalt_joint_XX=16093;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2934910 chrX_2934910_G_A G A 47 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADD_PHREDscore=0.964;CADD_Rawscore=-0.027239;CSQ=A|synonymous_variant|LOW|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding|11/11||ENST00000381134.9%3Ac.1692C>T|ENSP00000370526.3%3Ap.Asn564%3D|1830|1692|564|N|aaC/aaT|rs11222||-1||HGNC|HGNC%3A719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||G|G||1||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding|11/11||ENST00000540563.6%3Ac.1692C>T|ENSP00000438198.2%3Ap.Asn564%3D|1865|1692|564|N|aaC/aaT|rs11222||-1||HGNC|HGNC%3A719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||G|G||1||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding|12/12||ENST00000545496.6%3Ac.1767C>T|ENSP00000441417.1%3Ap.Asn589%3D|2059|1767|589|N|aaC/aaT|rs11222||-1||HGNC|HGNC%3A719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding|12/12||ENST00000672027.1%3Ac.1767C>T|ENSP00000500220.1%3Ap.Asn589%3D|2095|1767|589|N|aaC/aaT|rs11222||-1||HGNC|HGNC%3A719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding|11/11||ENST00000672097.1%3Ac.1689C>T|ENSP00000500727.1%3Ap.Asn563%3D|2036|1689|563|N|aaC/aaT|rs11222||-1||HGNC|HGNC%3A719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||G|G||1||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding|10/10||ENST00000672761.1%3Ac.1530C>T|ENSP00000500108.1%3Ap.Asn510%3D|1647|1530|510|N|aaC/aaT|rs11222||-1||HGNC|HGNC%3A719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding|11/11||ENST00000673032.1%3Ac.1530C>T|ENSP00000500778.1%3Ap.Asn510%3D|1795|1530|510|N|aaC/aaT|rs11222||-1||HGNC|HGNC%3A719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding|12/12||ENST00000681963.1%3Ac.1767C>T|ENSP00000507760.1%3Ap.Asn589%3D|2025|1767|589|N|aaC/aaT|rs11222||-1||HGNC|HGNC%3A719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding|10/10||ENST00000682184.1%3Ac.1569C>T|ENSP00000507043.1%3Ap.Asn523%3D|1646|1569|523|N|aaC/aaT|rs11222||-1||HGNC|HGNC%3A719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||G|G||1||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding|9/9||ENST00000682364.1%3Ac.1131C>T|ENSP00000507604.1%3Ap.Asn377%3D|1216|1131|377|N|aaC/aaT|rs11222||-1||HGNC|HGNC%3A719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX%3Ag.2934910G>A|benign||1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron|7/7||ENST00000683191.1:n.1472C>T||1472|||||rs11222||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding|12/12||ENST00000683290.1%3Ac.1767C>T|ENSP00000508156.1%3Ap.Asn589%3D|2111|1767|589|N|aaC/aaT|rs11222||-1||HGNC|HGNC%3A719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding|11/11||ENST00000683677.1%3Ac.1680C>T|ENSP00000506786.1%3Ap.Asn560%3D|1765|1680|560|N|aaC/aaT|rs11222||-1||HGNC|HGNC%3A719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX%3Ag.2934910G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||||||||||rs11222|1663|-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||G|G||1||chrX:g.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding|7/7||ENST00000684077.1%3Ac.1245C>T|ENSP00000506767.1%3Ap.Asn415%3D|1245|1245|415|N|aaC/aaT|rs11222||-1||HGNC|HGNC%3A719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||G|G||1||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding|10/10||ENST00000684117.1%3Ac.1530C>T|ENSP00000508337.1%3Ap.Asn510%3D|1695|1530|510|N|aaC/aaT|rs11222||-1||HGNC|HGNC%3A719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding|11/11||ENST00000684364.1%3Ac.1680C>T|ENSP00000507304.1%3Ap.Asn560%3D|1813|1680|560|N|aaC/aaT|rs11222||-1||HGNC|HGNC%3A719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX%3Ag.2934910G>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||||||||||rs11222|134|-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||G|G||1||chrX:g.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding|9/9||ENST00000684738.1%3Ac.1131C>T|ENSP00000507481.1%3Ap.Asn377%3D|1239|1131|377|N|aaC/aaT|rs11222||-1||HGNC|HGNC%3A719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|415|Transcript|NM_000047.3|protein_coding|11/11||NM_000047.3%3Ac.1692C>T|NP_000038.2%3Ap.Asn564%3D|1830|1692|564|N|aaC/aaT|rs11222||-1||EntrezGene|HGNC%3A719|||NP_000038.2||||||RefSeq||G|G||||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|415|Transcript|NM_001282628.2|protein_coding|12/12||NM_001282628.2%3Ac.1767C>T|NP_001269557.1%3Ap.Asn589%3D|2116|1767|589|N|aaC/aaT|rs11222||-1||EntrezGene|HGNC%3A719|||NP_001269557.1||||||RefSeq||G|G||||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|415|Transcript|NM_001282631.2|protein_coding|10/10||NM_001282631.2%3Ac.1530C>T|NP_001269560.2%3Ap.Asn510%3D|1647|1530|510|N|aaC/aaT|rs11222||-1||EntrezGene|HGNC%3A719|||NP_001269560.2||||||RefSeq||G|G||||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|415|Transcript|NM_001369079.1|protein_coding|11/11||NM_001369079.1%3Ac.1719C>T|NP_001356008.1%3Ap.Asn573%3D|1809|1719|573|N|aaC/aaT|rs11222||-1||EntrezGene|HGNC%3A719|||NP_001356008.1||||||RefSeq||G|G||||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|415|Transcript|NM_001369080.1|protein_coding|12/12||NM_001369080.1%3Ac.1767C>T|NP_001356009.1%3Ap.Asn589%3D|2095|1767|589|N|aaC/aaT|rs11222||-1||EntrezGene|HGNC%3A719|||NP_001356009.1||||||RefSeq||G|G||||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|415|Transcript|XM_005274519.5|protein_coding|11/11||XM_005274519.5%3Ac.1692C>T|XP_005274576.1%3Ap.Asn564%3D|1878|1692|564|N|aaC/aaT|rs11222||-1||EntrezGene|HGNC%3A719|||XP_005274576.1||||||RefSeq||G|G||||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|415|Transcript|XM_005274521.5|protein_coding|10/10||XM_005274521.5%3Ac.1530C>T|XP_005274578.1%3Ap.Asn510%3D|1668|1530|510|N|aaC/aaT|rs11222||-1||EntrezGene|HGNC%3A719|||XP_005274578.1||||||RefSeq||G|G||||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|415|Transcript|XM_011545521.2|protein_coding|9/9||XM_011545521.2%3Ac.1131C>T|XP_011543823.1%3Ap.Asn377%3D|1269|1131|377|N|aaC/aaT|rs11222||-1||EntrezGene|HGNC%3A719|||XP_011543823.1||||||RefSeq||G|G||||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|415|Transcript|XM_047442109.1|protein_coding|8/8||XM_047442109.1%3Ac.1206C>T|XP_047298065.1%3Ap.Asn402%3D|1331|1206|402|N|aaC/aaT|rs11222||-1||EntrezGene|HGNC%3A719|||XP_047298065.1||||||RefSeq||G|G||||chrX%3Ag.2934910G>A|benign||1||||||||||,A|synonymous_variant|LOW|ARSL|415|Transcript|XM_047442110.1|protein_coding|9/9||XM_047442110.1%3Ac.1158C>T|XP_047298066.1%3Ap.Asn386%3D|1248|1158|386|N|aaC/aaT|rs11222||-1||EntrezGene|HGNC%3A719|||XP_047298066.1||||||RefSeq||G|G||||chrX%3Ag.2934910G>A|benign||1||||||||||;ClinVar_CLNDN=not_specified|not_provided|X-linked_chondrodysplasia_punctata_1|Chondrodysplasia_punctata&_brachytelephalangic&_autosomal;ClinVar_CLNHGVS=NC_000023.11:g.2934910G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=ARSL:415;ClinVar_Variation_ID=157730;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|ARSE|0.00|0.00|0.00|0.00|-48|17|2|-50;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381134,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=732361;gnomADv4_1_AC_joint_XX=489066;gnomADv4_1_AC_joint_XY=243295;gnomADv4_1_AF_grpmax_joint=0.863206;gnomADv4_1_AF_joint=0.612004;gnomADv4_1_AF_joint_XX=0.606693;gnomADv4_1_AF_joint_XY=0.622966;gnomADv4_1_AN_grpmax_joint=33554;gnomADv4_1_AN_joint=1196661;gnomADv4_1_AN_joint_XX=806118;gnomADv4_1_AN_joint_XY=390543;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=155032;gnomADv4_1_nhomalt_joint_XX=155032;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2935667 chrX_2935667_TTTTTC_T TTTTTC T 16 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=1;AN_XX=0;AN_XY=1;AQ=16;CADDIndel_PHREDscore=0.786;CADDIndel_Rawscore=-0.079512;CSQ=-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||10/10|ENST00000381134.9:c.1412-482_1412-478del|||||||rs200645419||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||10/10|ENST00000540563.6:c.1412-482_1412-478del|||||||rs200645419||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||11/11|ENST00000545496.6:c.1487-482_1487-478del|||||||rs200645419||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||11/11|ENST00000672027.1:c.1487-482_1487-478del|||||||rs200645419||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||10/10|ENST00000672097.1:c.1412-485_1412-481del|||||||rs200645419||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||9/9|ENST00000672761.1:c.1250-482_1250-478del|||||||rs200645419||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||10/10|ENST00000673032.1:c.1250-482_1250-478del|||||||rs200645419||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||11/11|ENST00000681963.1:c.1487-482_1487-478del|||||||rs200645419||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||9/9|ENST00000682184.1:c.1289-482_1289-478del|||||||rs200645419||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||8/8|ENST00000682364.1:c.851-482_851-478del|||||||rs200645419||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||6/6|ENST00000683191.1:n.1192-482_1192-478del|||||||rs200645419||-1||HGNC|HGNC:719|||||||||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||11/11|ENST00000683290.1:c.1487-482_1487-478del|||||||rs200645419||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||10/10|ENST00000683677.1:c.1400-482_1400-478del|||||||rs200645419||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||||||||||rs200645419|901|-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||6/6|ENST00000684077.1:c.965-482_965-478del|||||||rs200645419||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||9/9|ENST00000684117.1:c.1250-482_1250-478del|||||||rs200645419||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||10/10|ENST00000684364.1:c.1400-482_1400-478del|||||||rs200645419||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||9/9|ENST00000684687.1:c.*385-482_*385-478del|||||||rs200645419||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||8/8|ENST00000684738.1:c.851-482_851-478del|||||||rs200645419||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||TTTTC|TTTTC||1||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||10/10|NM_000047.3:c.1412-482_1412-478del|||||||rs200645419||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||TTTTC|TTTTC||||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||11/11|NM_001282628.2:c.1487-482_1487-478del|||||||rs200645419||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||TTTTC|TTTTC||||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||9/9|NM_001282631.2:c.1250-482_1250-478del|||||||rs200645419||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||TTTTC|TTTTC||||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||10/10|NM_001369079.1:c.1439-482_1439-478del|||||||rs200645419||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||TTTTC|TTTTC||||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||11/11|NM_001369080.1:c.1487-482_1487-478del|||||||rs200645419||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||TTTTC|TTTTC||||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||10/10|XM_005274519.5:c.1412-482_1412-478del|||||||rs200645419||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||TTTTC|TTTTC||||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||9/9|XM_005274521.5:c.1250-482_1250-478del|||||||rs200645419||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||TTTTC|TTTTC||||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||8/8|XM_011545521.2:c.851-482_851-478del|||||||rs200645419||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||TTTTC|TTTTC||||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||7/7|XM_047442109.1:c.926-482_926-478del|||||||rs200645419||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||TTTTC|TTTTC||||chrX:g.2935692_2935696del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||8/8|XM_047442110.1:c.878-482_878-478del|||||||rs200645419||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||TTTTC|TTTTC||||chrX:g.2935692_2935696del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381134,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=791;gnomADv4_1_AC_joint_XX=635;gnomADv4_1_AC_joint_XY=156;gnomADv4_1_AF_grpmax_joint=0.0243902;gnomADv4_1_AF_joint=0.0078251;gnomADv4_1_AF_joint_XX=0.008505;gnomADv4_1_AF_joint_XY=0.00590395;gnomADv4_1_AN_grpmax_joint=28085;gnomADv4_1_AN_joint=101085;gnomADv4_1_AN_joint_XX=74662;gnomADv4_1_AN_joint_XY=26423;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=10;gnomADv4_1_nhomalt_joint_XX=10;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2935692 chrX_2935692_C_T C T 25 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=25;CADD_PHREDscore=1.142;CADD_Rawscore=0.016757;CSQ=T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||10/10|ENST00000381134.9:c.1412-502G>A|||||||rs6642072||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||10/10|ENST00000540563.6:c.1412-502G>A|||||||rs6642072||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||11/11|ENST00000545496.6:c.1487-502G>A|||||||rs6642072||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||11/11|ENST00000672027.1:c.1487-502G>A|||||||rs6642072||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||10/10|ENST00000672097.1:c.1412-505G>A|||||||rs6642072||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||9/9|ENST00000672761.1:c.1250-502G>A|||||||rs6642072||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||10/10|ENST00000673032.1:c.1250-502G>A|||||||rs6642072||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||11/11|ENST00000681963.1:c.1487-502G>A|||||||rs6642072||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||9/9|ENST00000682184.1:c.1289-502G>A|||||||rs6642072||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||8/8|ENST00000682364.1:c.851-502G>A|||||||rs6642072||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||6/6|ENST00000683191.1:n.1192-502G>A|||||||rs6642072||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||11/11|ENST00000683290.1:c.1487-502G>A|||||||rs6642072||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||10/10|ENST00000683677.1:c.1400-502G>A|||||||rs6642072||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||||||||||rs6642072|881|-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||6/6|ENST00000684077.1:c.965-502G>A|||||||rs6642072||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||9/9|ENST00000684117.1:c.1250-502G>A|||||||rs6642072||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||10/10|ENST00000684364.1:c.1400-502G>A|||||||rs6642072||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||9/9|ENST00000684687.1:c.*385-502G>A|||||||rs6642072||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||8/8|ENST00000684738.1:c.851-502G>A|||||||rs6642072||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||10/10|NM_000047.3:c.1412-502G>A|||||||rs6642072||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||C|C||||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||11/11|NM_001282628.2:c.1487-502G>A|||||||rs6642072||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||C|C||||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||9/9|NM_001282631.2:c.1250-502G>A|||||||rs6642072||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||C|C||||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||10/10|NM_001369079.1:c.1439-502G>A|||||||rs6642072||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||C|C||||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||11/11|NM_001369080.1:c.1487-502G>A|||||||rs6642072||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||C|C||||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||10/10|XM_005274519.5:c.1412-502G>A|||||||rs6642072||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||C|C||||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||9/9|XM_005274521.5:c.1250-502G>A|||||||rs6642072||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||C|C||||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||8/8|XM_011545521.2:c.851-502G>A|||||||rs6642072||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||C|C||||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||7/7|XM_047442109.1:c.926-502G>A|||||||rs6642072||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||C|C||||chrX:g.2935692C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||8/8|XM_047442110.1:c.878-502G>A|||||||rs6642072||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||C|C||||chrX:g.2935692C>T|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|ARSE|0.00|0.00|0.00|0.00|-6|-48|18|-47;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381134,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=6263;gnomADv4_1_AC_joint_XX=5668;gnomADv4_1_AC_joint_XY=595;gnomADv4_1_AF_grpmax_joint=0.335025;gnomADv4_1_AF_joint=0.16158;gnomADv4_1_AF_joint_XX=0.206424;gnomADv4_1_AF_joint_XY=0.0526409;gnomADv4_1_AN_grpmax_joint=394;gnomADv4_1_AN_joint=38761;gnomADv4_1_AN_joint_XX=27458;gnomADv4_1_AN_joint_XY=11303;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=333;gnomADv4_1_nhomalt_joint_XX=333;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2938114 chrX_2938114_C_T C T 53 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=53;AlphaMissense_class=likely_benign;AlphaMissense_pathogenicity=0.0914;AlphaMissense_protein_variant=G424S;AlphaMissense_transcript_id=ENST00000381134.8;AlphaMissense_uniprot_id=P51690;CADD_PHREDscore=18.78;CADD_Rawscore=2.45117;CSQ=T|missense_variant|MODERATE|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding|9/11||ENST00000381134.9:c.1270G>A|ENSP00000370526.3:p.Gly424Ser|1408|1270|424|G/S|Ggc/Agc|rs35143646||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding|9/11||ENST00000540563.6:c.1270G>A|ENSP00000438198.2:p.Gly424Ser|1443|1270|424|G/S|Ggc/Agc|rs35143646||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding|10/12||ENST00000545496.6:c.1345G>A|ENSP00000441417.1:p.Gly449Ser|1637|1345|449|G/S|Ggc/Agc|rs35143646||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding|10/12||ENST00000672027.1:c.1345G>A|ENSP00000500220.1:p.Gly449Ser|1673|1345|449|G/S|Ggc/Agc|rs35143646||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding|9/11||ENST00000672097.1:c.1270G>A|ENSP00000500727.1:p.Gly424Ser|1617|1270|424|G/S|Ggc/Agc|rs35143646||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding|8/10||ENST00000672761.1:c.1108G>A|ENSP00000500108.1:p.Gly370Ser|1225|1108|370|G/S|Ggc/Agc|rs35143646||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding|9/11||ENST00000673032.1:c.1108G>A|ENSP00000500778.1:p.Gly370Ser|1373|1108|370|G/S|Ggc/Agc|rs35143646||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding|10/12||ENST00000681963.1:c.1345G>A|ENSP00000507760.1:p.Gly449Ser|1603|1345|449|G/S|Ggc/Agc|rs35143646||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding|8/10||ENST00000682184.1:c.1147G>A|ENSP00000507043.1:p.Gly383Ser|1224|1147|383|G/S|Ggc/Agc|rs35143646||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding|7/9||ENST00000682364.1:c.709G>A|ENSP00000507604.1:p.Gly237Ser|794|709|237|G/S|Ggc/Agc|rs35143646||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron|5/7||ENST00000683191.1:n.1050G>A||1050|||||rs35143646||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding|10/12||ENST00000683290.1:c.1345G>A|ENSP00000508156.1:p.Gly449Ser|1689|1345|449|G/S|Ggc/Agc|rs35143646||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding|9/11||ENST00000683677.1:c.1258G>A|ENSP00000506786.1:p.Gly420Ser|1343|1258|420|G/S|Ggc/Agc|rs35143646||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||8/8|ENST00000683958.1:c.1127-1251G>A|||||||rs35143646||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||6/6|ENST00000684077.1:c.965-2924G>A|||||||rs35143646||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding|8/10||ENST00000684117.1:c.1108G>A|ENSP00000508337.1:p.Gly370Ser|1273|1108|370|G/S|Ggc/Agc|rs35143646||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding|9/11||ENST00000684364.1:c.1258G>A|ENSP00000507304.1:p.Gly420Ser|1391|1258|420|G/S|Ggc/Agc|rs35143646||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay|8/10||ENST00000684687.1:c.*243G>A||1269|||||rs35143646||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding|7/9||ENST00000684738.1:c.709G>A|ENSP00000507481.1:p.Gly237Ser|817|709|237|G/S|Ggc/Agc|rs35143646||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|415|Transcript|NM_000047.3|protein_coding|9/11||NM_000047.3:c.1270G>A|NP_000038.2:p.Gly424Ser|1408|1270|424|G/S|Ggc/Agc|rs35143646||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||C|C||||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|415|Transcript|NM_001282628.2|protein_coding|10/12||NM_001282628.2:c.1345G>A|NP_001269557.1:p.Gly449Ser|1694|1345|449|G/S|Ggc/Agc|rs35143646||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||C|C||||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|415|Transcript|NM_001282631.2|protein_coding|8/10||NM_001282631.2:c.1108G>A|NP_001269560.2:p.Gly370Ser|1225|1108|370|G/S|Ggc/Agc|rs35143646||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||C|C||||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|415|Transcript|NM_001369079.1|protein_coding|9/11||NM_001369079.1:c.1297G>A|NP_001356008.1:p.Gly433Ser|1387|1297|433|G/S|Ggc/Agc|rs35143646||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||C|C||||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|415|Transcript|NM_001369080.1|protein_coding|10/12||NM_001369080.1:c.1345G>A|NP_001356009.1:p.Gly449Ser|1673|1345|449|G/S|Ggc/Agc|rs35143646||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||C|C||||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|415|Transcript|XM_005274519.5|protein_coding|9/11||XM_005274519.5:c.1270G>A|XP_005274576.1:p.Gly424Ser|1456|1270|424|G/S|Ggc/Agc|rs35143646||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||C|C||||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|415|Transcript|XM_005274521.5|protein_coding|8/10||XM_005274521.5:c.1108G>A|XP_005274578.1:p.Gly370Ser|1246|1108|370|G/S|Ggc/Agc|rs35143646||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||C|C||||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|415|Transcript|XM_011545521.2|protein_coding|7/9||XM_011545521.2:c.709G>A|XP_011543823.1:p.Gly237Ser|847|709|237|G/S|Ggc/Agc|rs35143646||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||C|C||||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|415|Transcript|XM_047442109.1|protein_coding|6/8||XM_047442109.1:c.784G>A|XP_047298065.1:p.Gly262Ser|909|784|262|G/S|Ggc/Agc|rs35143646||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||C|C||||chrX:g.2938114C>T|benign||1||||||||||,T|missense_variant|MODERATE|ARSL|415|Transcript|XM_047442110.1|protein_coding|7/9||XM_047442110.1:c.736G>A|XP_047298066.1:p.Gly246Ser|826|736|246|G/S|Ggc/Agc|rs35143646||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||C|C||||chrX:g.2938114C>T|benign||1||||||||||;ClinVar_CLNDN=X-linked_chondrodysplasia_punctata_1|not_specified|Chondrodysplasia_punctata&_brachytelephalangic&_autosomal|not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2938114C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=ARSL:415;ClinVar_Variation_ID=157728;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;REVEL_score=0.434;SpliceAI=T|ARSE|0.00|0.00|0.00|0.00|-2|-15|-19|16;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381134,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=785725;gnomADv4_1_AC_joint_XX=523392;gnomADv4_1_AC_joint_XY=262333;gnomADv4_1_AF_grpmax_joint=0.863015;gnomADv4_1_AF_joint=0.650092;gnomADv4_1_AF_joint_XX=0.644346;gnomADv4_1_AF_joint_XY=0.661869;gnomADv4_1_AN_grpmax_joint=33646;gnomADv4_1_AN_joint=1208636;gnomADv4_1_AN_joint_XX=812284;gnomADv4_1_AN_joint_XY=396352;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=175053;gnomADv4_1_nhomalt_joint_XX=175053;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2938380 chrX_2938380_T_TTC T TTC 45 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=45;CADDIndel_PHREDscore=0.647;CADDIndel_Rawscore=-0.12866;CSQ=TC|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||8/10|ENST00000381134.9:c.1127-125_1127-124dup|||||||rs34095951||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||8/10|ENST00000540563.6:c.1127-125_1127-124dup|||||||rs34095951||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||9/11|ENST00000545496.6:c.1202-125_1202-124dup|||||||rs34095951||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||9/11|ENST00000672027.1:c.1202-125_1202-124dup|||||||rs34095951||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||8/10|ENST00000672097.1:c.1127-125_1127-124dup|||||||rs34095951||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||||||||||rs34095951|4766|-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||7/9|ENST00000672761.1:c.965-125_965-124dup|||||||rs34095951||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||8/10|ENST00000673032.1:c.965-125_965-124dup|||||||rs34095951||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||9/11|ENST00000681963.1:c.1202-125_1202-124dup|||||||rs34095951||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||7/9|ENST00000682184.1:c.1004-125_1004-124dup|||||||rs34095951||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||6/8|ENST00000682364.1:c.566-125_566-124dup|||||||rs34095951||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||4/6|ENST00000683191.1:n.907-125_907-124dup|||||||rs34095951||-1||HGNC|HGNC:719|||||||||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||9/11|ENST00000683290.1:c.1202-125_1202-124dup|||||||rs34095951||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||8/10|ENST00000683677.1:c.1115-125_1115-124dup|||||||rs34095951||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||8/8|ENST00000683958.1:c.1127-1519_1127-1518dup|||||||rs34095951||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||6/6|ENST00000684077.1:c.965-3192_965-3191dup|||||||rs34095951||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||7/9|ENST00000684117.1:c.965-125_965-124dup|||||||rs34095951||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||8/10|ENST00000684364.1:c.1115-125_1115-124dup|||||||rs34095951||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||7/9|ENST00000684687.1:c.*100-125_*100-124dup|||||||rs34095951||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||6/8|ENST00000684738.1:c.566-125_566-124dup|||||||rs34095951||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl|||||1||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||8/10|NM_000047.3:c.1127-125_1127-124dup|||||||rs34095951||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq|||||||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||9/11|NM_001282628.2:c.1202-125_1202-124dup|||||||rs34095951||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq|||||||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||7/9|NM_001282631.2:c.965-125_965-124dup|||||||rs34095951||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq|||||||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||8/10|NM_001369079.1:c.1154-125_1154-124dup|||||||rs34095951||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq|||||||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||9/11|NM_001369080.1:c.1202-125_1202-124dup|||||||rs34095951||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq|||||||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||8/10|XM_005274519.5:c.1127-125_1127-124dup|||||||rs34095951||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq|||||||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||7/9|XM_005274521.5:c.965-125_965-124dup|||||||rs34095951||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq|||||||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||6/8|XM_011545521.2:c.566-125_566-124dup|||||||rs34095951||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq|||||||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||5/7|XM_047442109.1:c.641-125_641-124dup|||||||rs34095951||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq|||||||chrX:g.2938398_2938399dup|||1||||||||||,TC|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||6/8|XM_047442110.1:c.593-125_593-124dup|||||||rs34095951||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq|||||||chrX:g.2938398_2938399dup|||1||||||||||;ClinVar_CLNDN=not_provided|X-linked_chondrodysplasia_punctata_1;ClinVar_CLNHGVS=NC_000023.11:g.2938382CT[10];ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=ARSL:415;ClinVar_Variation_ID=1175208;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC,TC;VEP_Feature=ENST00000381134,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=265812;gnomADv4_1_AC_joint_XX=234674;gnomADv4_1_AC_joint_XY=31138;gnomADv4_1_AF_grpmax_joint=0.551313;gnomADv4_1_AF_joint=0.413047;gnomADv4_1_AF_joint_XX=0.441365;gnomADv4_1_AF_joint_XY=0.278416;gnomADv4_1_AN_grpmax_joint=20979;gnomADv4_1_AN_joint=643540;gnomADv4_1_AN_joint_XX=531700;gnomADv4_1_AN_joint_XY=111840;gnomADv4_1_FILTER=EXOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=22034;gnomADv4_1_nhomalt_joint_XX=22034;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2939772 chrX_2939772_C_A C A 53 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=0.983;CADD_Rawscore=-0.022342;CSQ=A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||8/10|ENST00000381134.9:c.1127-1515G>T|||||||rs11798027||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||8/10|ENST00000540563.6:c.1127-1515G>T|||||||rs11798027||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||9/11|ENST00000545496.6:c.1202-1515G>T|||||||rs11798027||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||9/11|ENST00000672027.1:c.1202-1515G>T|||||||rs11798027||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||8/10|ENST00000672097.1:c.1127-1515G>T|||||||rs11798027||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||||||||||rs11798027|3375|-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||7/9|ENST00000672761.1:c.965-1515G>T|||||||rs11798027||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||8/10|ENST00000673032.1:c.965-1515G>T|||||||rs11798027||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||9/11|ENST00000681963.1:c.1202-1515G>T|||||||rs11798027||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||7/9|ENST00000682184.1:c.1004-1515G>T|||||||rs11798027||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||6/8|ENST00000682364.1:c.566-1515G>T|||||||rs11798027||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||4/6|ENST00000683191.1:n.907-1515G>T|||||||rs11798027||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||9/11|ENST00000683290.1:c.1202-1515G>T|||||||rs11798027||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||8/10|ENST00000683677.1:c.1115-1515G>T|||||||rs11798027||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||8/8|ENST00000683958.1:c.1127-2909G>T|||||||rs11798027||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||6/6|ENST00000684077.1:c.964+3293G>T|||||||rs11798027||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||7/9|ENST00000684117.1:c.965-1515G>T|||||||rs11798027||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||8/10|ENST00000684364.1:c.1115-1515G>T|||||||rs11798027||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||7/9|ENST00000684687.1:c.*100-1515G>T|||||||rs11798027||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||6/8|ENST00000684738.1:c.566-1515G>T|||||||rs11798027||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||8/10|NM_000047.3:c.1127-1515G>T|||||||rs11798027||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||C|C||||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||9/11|NM_001282628.2:c.1202-1515G>T|||||||rs11798027||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||C|C||||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||7/9|NM_001282631.2:c.965-1515G>T|||||||rs11798027||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||C|C||||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||8/10|NM_001369079.1:c.1154-1515G>T|||||||rs11798027||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||C|C||||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||9/11|NM_001369080.1:c.1202-1515G>T|||||||rs11798027||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||C|C||||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||8/10|XM_005274519.5:c.1127-1515G>T|||||||rs11798027||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||C|C||||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||7/9|XM_005274521.5:c.965-1515G>T|||||||rs11798027||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||C|C||||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||6/8|XM_011545521.2:c.566-1515G>T|||||||rs11798027||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||C|C||||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||5/7|XM_047442109.1:c.641-1515G>T|||||||rs11798027||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||C|C||||chrX:g.2939772C>A|||||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||6/8|XM_047442110.1:c.593-1515G>T|||||||rs11798027||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||C|C||||chrX:g.2939772C>A|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|ARSE|0.00|0.00|0.00|0.00|-24|2|-7|-19;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381134,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=65680;gnomADv4_1_AC_joint_XX=46979;gnomADv4_1_AC_joint_XY=18701;gnomADv4_1_AF_grpmax_joint=0.903942;gnomADv4_1_AF_joint=0.605463;gnomADv4_1_AF_joint_XX=0.605259;gnomADv4_1_AF_joint_XY=0.605975;gnomADv4_1_AN_grpmax_joint=3425;gnomADv4_1_AN_joint=108479;gnomADv4_1_AN_joint_XX=77618;gnomADv4_1_AN_joint_XY=30861;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=14360;gnomADv4_1_nhomalt_joint_XX=14360;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2939864 chrX_2939864_CTT_C CTT C 41 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=41;CADDIndel_PHREDscore=0.65;CADDIndel_Rawscore=-0.12769;CSQ=-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||8/10|ENST00000381134.9:c.1127-1609_1127-1608del|||||||rs35373572||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||8/10|ENST00000540563.6:c.1127-1609_1127-1608del|||||||rs35373572||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||9/11|ENST00000545496.6:c.1202-1609_1202-1608del|||||||rs35373572||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||9/11|ENST00000672027.1:c.1202-1609_1202-1608del|||||||rs35373572||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||8/10|ENST00000672097.1:c.1127-1609_1127-1608del|||||||rs35373572||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||||||||||rs35373572|3281|-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||7/9|ENST00000672761.1:c.965-1609_965-1608del|||||||rs35373572||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||8/10|ENST00000673032.1:c.965-1609_965-1608del|||||||rs35373572||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||9/11|ENST00000681963.1:c.1202-1609_1202-1608del|||||||rs35373572||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||7/9|ENST00000682184.1:c.1004-1609_1004-1608del|||||||rs35373572||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||6/8|ENST00000682364.1:c.566-1609_566-1608del|||||||rs35373572||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||4/6|ENST00000683191.1:n.907-1609_907-1608del|||||||rs35373572||-1||HGNC|HGNC:719|||||||||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||9/11|ENST00000683290.1:c.1202-1609_1202-1608del|||||||rs35373572||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||8/10|ENST00000683677.1:c.1115-1609_1115-1608del|||||||rs35373572||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||8/8|ENST00000683958.1:c.1127-3003_1127-3002del|||||||rs35373572||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||6/6|ENST00000684077.1:c.964+3199_964+3200del|||||||rs35373572||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||7/9|ENST00000684117.1:c.965-1609_965-1608del|||||||rs35373572||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||8/10|ENST00000684364.1:c.1115-1609_1115-1608del|||||||rs35373572||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||7/9|ENST00000684687.1:c.*100-1609_*100-1608del|||||||rs35373572||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||6/8|ENST00000684738.1:c.566-1609_566-1608del|||||||rs35373572||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||TT|TT||1||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||8/10|NM_000047.3:c.1127-1609_1127-1608del|||||||rs35373572||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||TT|TT||||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||9/11|NM_001282628.2:c.1202-1609_1202-1608del|||||||rs35373572||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||TT|TT||||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||7/9|NM_001282631.2:c.965-1609_965-1608del|||||||rs35373572||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||TT|TT||||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||8/10|NM_001369079.1:c.1154-1609_1154-1608del|||||||rs35373572||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||TT|TT||||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||9/11|NM_001369080.1:c.1202-1609_1202-1608del|||||||rs35373572||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||TT|TT||||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||8/10|XM_005274519.5:c.1127-1609_1127-1608del|||||||rs35373572||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||TT|TT||||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||7/9|XM_005274521.5:c.965-1609_965-1608del|||||||rs35373572||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||TT|TT||||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||6/8|XM_011545521.2:c.566-1609_566-1608del|||||||rs35373572||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||TT|TT||||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||5/7|XM_047442109.1:c.641-1609_641-1608del|||||||rs35373572||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||TT|TT||||chrX:g.2939887_2939888del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||6/8|XM_047442110.1:c.593-1609_593-1608del|||||||rs35373572||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||TT|TT||||chrX:g.2939887_2939888del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|ARSE|0.00|0.00|0.00|0.00|40|34|0|40;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381134,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15248;gnomADv4_1_AC_joint_XX=15033;gnomADv4_1_AC_joint_XY=215;gnomADv4_1_AF_grpmax_joint=0.522852;gnomADv4_1_AF_joint=0.283299;gnomADv4_1_AF_joint_XX=0.330062;gnomADv4_1_AF_joint_XY=0.0259756;gnomADv4_1_AN_grpmax_joint=1094;gnomADv4_1_AN_joint=53823;gnomADv4_1_AN_joint_XX=45546;gnomADv4_1_AN_joint_XY=8277;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=1030;gnomADv4_1_nhomalt_joint_XX=1030;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2941247 chrX_2941247_CTTTTTTTTTT_C CTTTTTTTTTT C 44 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.666667;AF_XX=0.5;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=44;CADDIndel_PHREDscore=0.439;CADDIndel_Rawscore=-0.225685;CSQ=-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||8/10|ENST00000381134.9:c.1126+1808_1126+1817del|||||||rs200569564||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||8/10|ENST00000540563.6:c.1126+1808_1126+1817del|||||||rs200569564||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||9/11|ENST00000545496.6:c.1201+1808_1201+1817del|||||||rs200569564||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||9/11|ENST00000672027.1:c.1201+1808_1201+1817del|||||||rs200569564||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||8/10|ENST00000672097.1:c.1126+1808_1126+1817del|||||||rs200569564||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||||||||||rs200569564|1890|-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||7/9|ENST00000672761.1:c.964+1808_964+1817del|||||||rs200569564||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||8/10|ENST00000673032.1:c.964+1808_964+1817del|||||||rs200569564||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||9/11|ENST00000681963.1:c.1201+1808_1201+1817del|||||||rs200569564||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||7/9|ENST00000682184.1:c.1003+1808_1003+1817del|||||||rs200569564||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||6/8|ENST00000682364.1:c.565+1808_565+1817del|||||||rs200569564||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||4/6|ENST00000683191.1:n.906+1808_906+1817del|||||||rs200569564||-1||HGNC|HGNC:719|||||||||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||9/11|ENST00000683290.1:c.1201+1808_1201+1817del|||||||rs200569564||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||8/10|ENST00000683677.1:c.1114+1808_1114+1817del|||||||rs200569564||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||8/8|ENST00000683958.1:c.1126+1808_1126+1817del|||||||rs200569564||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||6/6|ENST00000684077.1:c.964+1808_964+1817del|||||||rs200569564||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||7/9|ENST00000684117.1:c.964+1808_964+1817del|||||||rs200569564||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||8/10|ENST00000684364.1:c.1114+1808_1114+1817del|||||||rs200569564||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||7/9|ENST00000684687.1:c.*99+1808_*99+1817del|||||||rs200569564||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||6/8|ENST00000684738.1:c.565+1808_565+1817del|||||||rs200569564||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||TTTTTTTTTT|TTTTTTTTTT||1||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||8/10|NM_000047.3:c.1126+1808_1126+1817del|||||||rs200569564||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||TTTTTTTTTT|TTTTTTTTTT||||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||9/11|NM_001282628.2:c.1201+1808_1201+1817del|||||||rs200569564||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||TTTTTTTTTT|TTTTTTTTTT||||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||7/9|NM_001282631.2:c.964+1808_964+1817del|||||||rs200569564||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||TTTTTTTTTT|TTTTTTTTTT||||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||8/10|NM_001369079.1:c.1153+1808_1153+1817del|||||||rs200569564||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||TTTTTTTTTT|TTTTTTTTTT||||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||9/11|NM_001369080.1:c.1201+1808_1201+1817del|||||||rs200569564||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||TTTTTTTTTT|TTTTTTTTTT||||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||8/10|XM_005274519.5:c.1126+1808_1126+1817del|||||||rs200569564||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||TTTTTTTTTT|TTTTTTTTTT||||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||7/9|XM_005274521.5:c.964+1808_964+1817del|||||||rs200569564||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||TTTTTTTTTT|TTTTTTTTTT||||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||6/8|XM_011545521.2:c.565+1808_565+1817del|||||||rs200569564||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||TTTTTTTTTT|TTTTTTTTTT||||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||5/7|XM_047442109.1:c.640+1808_640+1817del|||||||rs200569564||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||TTTTTTTTTT|TTTTTTTTTT||||chrX:g.2941263_2941272del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||6/8|XM_047442110.1:c.592+1808_592+1817del|||||||rs200569564||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||TTTTTTTTTT|TTTTTTTTTT||||chrX:g.2941263_2941272del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381134,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=45177;gnomADv4_1_AC_joint_XX=36188;gnomADv4_1_AC_joint_XY=8989;gnomADv4_1_AF_grpmax_joint=0.884601;gnomADv4_1_AF_joint=0.560822;gnomADv4_1_AF_joint_XX=0.555337;gnomADv4_1_AF_joint_XY=0.584043;gnomADv4_1_AN_grpmax_joint=2721;gnomADv4_1_AN_joint=80555;gnomADv4_1_AN_joint_XX=65164;gnomADv4_1_AN_joint_XY=15391;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=10545;gnomADv4_1_nhomalt_joint_XX=10545;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2942401 chrX_2942401_T_C T C 55 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=1.707;CADD_Rawscore=0.122141;CSQ=C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||8/10|ENST00000381134.9:c.1126+664A>G|||||||rs4892825||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||8/10|ENST00000540563.6:c.1126+664A>G|||||||rs4892825||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||9/11|ENST00000545496.6:c.1201+664A>G|||||||rs4892825||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||9/11|ENST00000672027.1:c.1201+664A>G|||||||rs4892825||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||8/10|ENST00000672097.1:c.1126+664A>G|||||||rs4892825||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||||||||||rs4892825|746|-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||7/9|ENST00000672761.1:c.964+664A>G|||||||rs4892825||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||8/10|ENST00000673032.1:c.964+664A>G|||||||rs4892825||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||9/11|ENST00000681963.1:c.1201+664A>G|||||||rs4892825||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||7/9|ENST00000682184.1:c.1003+664A>G|||||||rs4892825||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||6/8|ENST00000682364.1:c.565+664A>G|||||||rs4892825||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||4/6|ENST00000683191.1:n.906+664A>G|||||||rs4892825||-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||9/11|ENST00000683290.1:c.1201+664A>G|||||||rs4892825||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||8/10|ENST00000683677.1:c.1114+664A>G|||||||rs4892825||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||8/8|ENST00000683958.1:c.1126+664A>G|||||||rs4892825||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||6/6|ENST00000684077.1:c.964+664A>G|||||||rs4892825||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||7/9|ENST00000684117.1:c.964+664A>G|||||||rs4892825||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||8/10|ENST00000684364.1:c.1114+664A>G|||||||rs4892825||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||7/9|ENST00000684687.1:c.*99+664A>G|||||||rs4892825||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||6/8|ENST00000684738.1:c.565+664A>G|||||||rs4892825||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||8/10|NM_000047.3:c.1126+664A>G|||||||rs4892825||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||T|T||||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||9/11|NM_001282628.2:c.1201+664A>G|||||||rs4892825||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||T|T||||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||7/9|NM_001282631.2:c.964+664A>G|||||||rs4892825||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||T|T||||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||8/10|NM_001369079.1:c.1153+664A>G|||||||rs4892825||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||T|T||||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||9/11|NM_001369080.1:c.1201+664A>G|||||||rs4892825||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||T|T||||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||8/10|XM_005274519.5:c.1126+664A>G|||||||rs4892825||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||T|T||||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||7/9|XM_005274521.5:c.964+664A>G|||||||rs4892825||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||T|T||||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||6/8|XM_011545521.2:c.565+664A>G|||||||rs4892825||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||T|T||||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||5/7|XM_047442109.1:c.640+664A>G|||||||rs4892825||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||T|T||||chrX:g.2942401T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||6/8|XM_047442110.1:c.592+664A>G|||||||rs4892825||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||T|T||||chrX:g.2942401T>C|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|ARSE|0.00|0.00|0.00|0.00|0|35|5|-33;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381134,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=69356;gnomADv4_1_AC_joint_XX=48913;gnomADv4_1_AC_joint_XY=20443;gnomADv4_1_AF_grpmax_joint=0.909406;gnomADv4_1_AF_joint=0.630314;gnomADv4_1_AF_joint_XX=0.631021;gnomADv4_1_AF_joint_XY=0.628629;gnomADv4_1_AN_grpmax_joint=3466;gnomADv4_1_AN_joint=110034;gnomADv4_1_AN_joint_XX=77514;gnomADv4_1_AN_joint_XY=32520;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=15551;gnomADv4_1_nhomalt_joint_XX=15551;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2942416 chrX_2942416_T_C T C 52 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=0.95;CADD_Rawscore=-0.03106;CSQ=C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||8/10|ENST00000381134.9:c.1126+649A>G|||||||rs4892826||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||8/10|ENST00000540563.6:c.1126+649A>G|||||||rs4892826||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||9/11|ENST00000545496.6:c.1201+649A>G|||||||rs4892826||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||9/11|ENST00000672027.1:c.1201+649A>G|||||||rs4892826||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||8/10|ENST00000672097.1:c.1126+649A>G|||||||rs4892826||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||||||||||rs4892826|731|-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||7/9|ENST00000672761.1:c.964+649A>G|||||||rs4892826||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||8/10|ENST00000673032.1:c.964+649A>G|||||||rs4892826||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||9/11|ENST00000681963.1:c.1201+649A>G|||||||rs4892826||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||7/9|ENST00000682184.1:c.1003+649A>G|||||||rs4892826||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||6/8|ENST00000682364.1:c.565+649A>G|||||||rs4892826||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||4/6|ENST00000683191.1:n.906+649A>G|||||||rs4892826||-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||9/11|ENST00000683290.1:c.1201+649A>G|||||||rs4892826||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||8/10|ENST00000683677.1:c.1114+649A>G|||||||rs4892826||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||8/8|ENST00000683958.1:c.1126+649A>G|||||||rs4892826||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||6/6|ENST00000684077.1:c.964+649A>G|||||||rs4892826||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||7/9|ENST00000684117.1:c.964+649A>G|||||||rs4892826||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||8/10|ENST00000684364.1:c.1114+649A>G|||||||rs4892826||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||7/9|ENST00000684687.1:c.*99+649A>G|||||||rs4892826||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||6/8|ENST00000684738.1:c.565+649A>G|||||||rs4892826||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||8/10|NM_000047.3:c.1126+649A>G|||||||rs4892826||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||T|T||||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||9/11|NM_001282628.2:c.1201+649A>G|||||||rs4892826||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||T|T||||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||7/9|NM_001282631.2:c.964+649A>G|||||||rs4892826||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||T|T||||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||8/10|NM_001369079.1:c.1153+649A>G|||||||rs4892826||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||T|T||||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||9/11|NM_001369080.1:c.1201+649A>G|||||||rs4892826||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||T|T||||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||8/10|XM_005274519.5:c.1126+649A>G|||||||rs4892826||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||T|T||||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||7/9|XM_005274521.5:c.964+649A>G|||||||rs4892826||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||T|T||||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||6/8|XM_011545521.2:c.565+649A>G|||||||rs4892826||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||T|T||||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||5/7|XM_047442109.1:c.640+649A>G|||||||rs4892826||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||T|T||||chrX:g.2942416T>C|||||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||6/8|XM_047442110.1:c.592+649A>G|||||||rs4892826||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||T|T||||chrX:g.2942416T>C|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|ARSE|0.00|0.00|0.00|0.00|38|-2|44|-48;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381134,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=70440;gnomADv4_1_AC_joint_XX=49779;gnomADv4_1_AC_joint_XY=20661;gnomADv4_1_AF_grpmax_joint=0.908593;gnomADv4_1_AF_joint=0.640952;gnomADv4_1_AF_joint_XX=0.642343;gnomADv4_1_AF_joint_XY=0.637626;gnomADv4_1_AN_grpmax_joint=3468;gnomADv4_1_AN_joint=109899;gnomADv4_1_AN_joint_XX=77496;gnomADv4_1_AN_joint_XY=32403;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=16070;gnomADv4_1_nhomalt_joint_XX=16070;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2943418 chrX_2943418_G_C G C 58 . AC=4;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=2;AC_Hom_XX=2;AC_Hom_XY=0;AC_XX=2;AC_XY=2;AF=1.0;AF_XX=1.0;AF_XY=1.0;AN=4;AN_XX=2;AN_XY=2;AQ=58;CADD_PHREDscore=1.036;CADD_Rawscore=-0.008705;CSQ=C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||7/10|ENST00000381134.9:c.992-219C>G|||||||rs211643||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||7/10|ENST00000540563.6:c.992-219C>G|||||||rs211643||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||8/11|ENST00000545496.6:c.1067-219C>G|||||||rs211643||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||8/11|ENST00000672027.1:c.1067-219C>G|||||||rs211643||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||7/10|ENST00000672097.1:c.992-219C>G|||||||rs211643||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||5/5|ENST00000672606.1:c.431-219C>G|||||||rs211643||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||6/9|ENST00000672761.1:c.830-219C>G|||||||rs211643||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||7/10|ENST00000673032.1:c.830-219C>G|||||||rs211643||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||8/11|ENST00000681963.1:c.1067-219C>G|||||||rs211643||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||6/9|ENST00000682184.1:c.869-219C>G|||||||rs211643||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||5/8|ENST00000682364.1:c.431-219C>G|||||||rs211643||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||3/6|ENST00000683191.1:n.772-219C>G|||||||rs211643||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||8/11|ENST00000683290.1:c.1067-219C>G|||||||rs211643||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||7/10|ENST00000683677.1:c.980-219C>G|||||||rs211643||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||7/8|ENST00000683958.1:c.992-219C>G|||||||rs211643||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||5/6|ENST00000684077.1:c.830-219C>G|||||||rs211643||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||6/9|ENST00000684117.1:c.830-219C>G|||||||rs211643||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||7/10|ENST00000684364.1:c.980-219C>G|||||||rs211643||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||6/9|ENST00000684687.1:c.826-219C>G|||||||rs211643||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||5/8|ENST00000684738.1:c.431-219C>G|||||||rs211643||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||7/10|NM_000047.3:c.992-219C>G|||||||rs211643||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||G|G||||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||8/11|NM_001282628.2:c.1067-219C>G|||||||rs211643||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||G|G||||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||6/9|NM_001282631.2:c.830-219C>G|||||||rs211643||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||G|G||||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||7/10|NM_001369079.1:c.1019-219C>G|||||||rs211643||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||G|G||||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||8/11|NM_001369080.1:c.1067-219C>G|||||||rs211643||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||G|G||||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||7/10|XM_005274519.5:c.992-219C>G|||||||rs211643||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||G|G||||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||6/9|XM_005274521.5:c.830-219C>G|||||||rs211643||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||G|G||||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||5/8|XM_011545521.2:c.431-219C>G|||||||rs211643||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||G|G||||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||4/7|XM_047442109.1:c.506-219C>G|||||||rs211643||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||G|G||||chrX:g.2943418G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||5/8|XM_047442110.1:c.458-219C>G|||||||rs211643||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||G|G||||chrX:g.2943418G>C|benign||1||||||||||;ClinVar_CLNDN=not_provided|X-linked_chondrodysplasia_punctata_1;ClinVar_CLNHGVS=NC_000023.11:g.2943418G>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=ARSL:415;ClinVar_Variation_ID=667510;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|ARSE|0.15|0.00|0.00|0.00|-1|-24|-1|4;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381134,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=109642;gnomADv4_1_AC_joint_XX=77572;gnomADv4_1_AC_joint_XY=32070;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.997289;gnomADv4_1_AF_joint_XX=0.996993;gnomADv4_1_AF_joint_XY=0.998008;gnomADv4_1_AN_grpmax_joint=217;gnomADv4_1_AN_joint=109940;gnomADv4_1_AN_joint_XX=77806;gnomADv4_1_AN_joint_XY=32134;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=38669;gnomADv4_1_nhomalt_joint_XX=38669;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=1.0;numhomalt_XX=1.0;numhomalt_XY=0.0 +chrX 2944473 chrX_2944473_CAA_C CAA C 46 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.333333;AF_XX=0.0;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=46;CADDIndel_PHREDscore=0.579;CADDIndel_Rawscore=-0.156362;CSQ=-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||7/10|ENST00000381134.9:c.992-1276_992-1275del|||||||rs58863219||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||7/10|ENST00000540563.6:c.992-1276_992-1275del|||||||rs58863219||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||8/11|ENST00000545496.6:c.1067-1276_1067-1275del|||||||rs58863219||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||8/11|ENST00000672027.1:c.1067-1276_1067-1275del|||||||rs58863219||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||7/10|ENST00000672097.1:c.992-1276_992-1275del|||||||rs58863219||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||5/5|ENST00000672606.1:c.431-1276_431-1275del|||||||rs58863219||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||6/9|ENST00000672761.1:c.830-1276_830-1275del|||||||rs58863219||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||7/10|ENST00000673032.1:c.830-1276_830-1275del|||||||rs58863219||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||8/11|ENST00000681963.1:c.1067-1276_1067-1275del|||||||rs58863219||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||6/9|ENST00000682184.1:c.869-1276_869-1275del|||||||rs58863219||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||5/8|ENST00000682364.1:c.431-1276_431-1275del|||||||rs58863219||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||3/6|ENST00000683191.1:n.772-1276_772-1275del|||||||rs58863219||-1||HGNC|HGNC:719|||||||||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||8/11|ENST00000683290.1:c.1067-1276_1067-1275del|||||||rs58863219||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||7/10|ENST00000683677.1:c.980-1276_980-1275del|||||||rs58863219||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||7/8|ENST00000683958.1:c.992-1276_992-1275del|||||||rs58863219||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||5/6|ENST00000684077.1:c.830-1276_830-1275del|||||||rs58863219||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||6/9|ENST00000684117.1:c.830-1276_830-1275del|||||||rs58863219||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||7/10|ENST00000684364.1:c.980-1276_980-1275del|||||||rs58863219||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||6/9|ENST00000684687.1:c.826-1276_826-1275del|||||||rs58863219||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||5/8|ENST00000684738.1:c.431-1276_431-1275del|||||||rs58863219||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||AA|AA||1||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||7/10|NM_000047.3:c.992-1276_992-1275del|||||||rs58863219||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||AA|AA||||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||8/11|NM_001282628.2:c.1067-1276_1067-1275del|||||||rs58863219||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||AA|AA||||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||6/9|NM_001282631.2:c.830-1276_830-1275del|||||||rs58863219||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||AA|AA||||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||7/10|NM_001369079.1:c.1019-1276_1019-1275del|||||||rs58863219||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||AA|AA||||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||8/11|NM_001369080.1:c.1067-1276_1067-1275del|||||||rs58863219||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||AA|AA||||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||7/10|XM_005274519.5:c.992-1276_992-1275del|||||||rs58863219||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||AA|AA||||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||6/9|XM_005274521.5:c.830-1276_830-1275del|||||||rs58863219||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||AA|AA||||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||5/8|XM_011545521.2:c.431-1276_431-1275del|||||||rs58863219||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||AA|AA||||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||4/7|XM_047442109.1:c.506-1276_506-1275del|||||||rs58863219||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||AA|AA||||chrX:g.2944485_2944486del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||5/8|XM_047442110.1:c.458-1276_458-1275del|||||||rs58863219||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||AA|AA||||chrX:g.2944485_2944486del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|ARSE|0.00|0.00|0.00|0.00|32|-23|50|-23;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381134,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52384;gnomADv4_1_AC_joint_XX=40103;gnomADv4_1_AC_joint_XY=12281;gnomADv4_1_AF_grpmax_joint=0.813;gnomADv4_1_AF_joint=0.557508;gnomADv4_1_AF_joint_XX=0.554246;gnomADv4_1_AF_joint_XY=0.568433;gnomADv4_1_AN_grpmax_joint=2000;gnomADv4_1_AN_joint=93961;gnomADv4_1_AN_joint_XX=72356;gnomADv4_1_AN_joint_XY=21605;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=13147;gnomADv4_1_nhomalt_joint_XX=13147;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2944680 chrX_2944680_T_C T C 51 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.333333;AF_XX=0.0;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=51;CADD_PHREDscore=0.405;CADD_Rawscore=-0.245831;CSQ=C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||7/10|ENST00000381134.9:c.991+1318A>G|||||||rs211644||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||||||||||rs211644|4943|-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||7/10|ENST00000540563.6:c.991+1318A>G|||||||rs211644||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||8/11|ENST00000545496.6:c.1066+1318A>G|||||||rs211644||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||8/11|ENST00000672027.1:c.1066+1318A>G|||||||rs211644||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||7/10|ENST00000672097.1:c.991+1318A>G|||||||rs211644||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||5/5|ENST00000672606.1:c.431-1481A>G|||||||rs211644||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||6/9|ENST00000672761.1:c.829+1318A>G|||||||rs211644||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||7/10|ENST00000673032.1:c.829+1318A>G|||||||rs211644||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||8/11|ENST00000681963.1:c.1066+1318A>G|||||||rs211644||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||6/9|ENST00000682184.1:c.868+1318A>G|||||||rs211644||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||5/8|ENST00000682364.1:c.431-1481A>G|||||||rs211644||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||3/6|ENST00000683191.1:n.771+1318A>G|||||||rs211644||-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||8/11|ENST00000683290.1:c.1066+1318A>G|||||||rs211644||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||7/10|ENST00000683677.1:c.979+1318A>G|||||||rs211644||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||7/8|ENST00000683958.1:c.991+1318A>G|||||||rs211644||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||5/6|ENST00000684077.1:c.829+1318A>G|||||||rs211644||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||6/9|ENST00000684117.1:c.829+1318A>G|||||||rs211644||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||7/10|ENST00000684364.1:c.979+1318A>G|||||||rs211644||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||6/9|ENST00000684687.1:c.825+1322A>G|||||||rs211644||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||5/8|ENST00000684738.1:c.431-1481A>G|||||||rs211644||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||7/10|NM_000047.3:c.991+1318A>G|||||||rs211644||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||T|T||||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||8/11|NM_001282628.2:c.1066+1318A>G|||||||rs211644||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||T|T||||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||6/9|NM_001282631.2:c.829+1318A>G|||||||rs211644||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||T|T||||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||7/10|NM_001369079.1:c.1018+1318A>G|||||||rs211644||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||T|T||||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||8/11|NM_001369080.1:c.1066+1318A>G|||||||rs211644||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||T|T||||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||7/10|XM_005274519.5:c.991+1318A>G|||||||rs211644||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||T|T||||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||6/9|XM_005274521.5:c.829+1318A>G|||||||rs211644||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||T|T||||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||5/8|XM_011545521.2:c.431-1481A>G|||||||rs211644||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||T|T||||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||4/7|XM_047442109.1:c.506-1481A>G|||||||rs211644||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||T|T||||chrX:g.2944680T>C|||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||5/8|XM_047442110.1:c.458-1481A>G|||||||rs211644||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||T|T||||chrX:g.2944680T>C|||1||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|ARSE|0.00|0.00|0.00|0.00|-1|-13|-34|42;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=58569;gnomADv4_1_AC_joint_XX=42042;gnomADv4_1_AC_joint_XY=16527;gnomADv4_1_AF_grpmax_joint=0.802817;gnomADv4_1_AF_joint=0.542225;gnomADv4_1_AF_joint_XX=0.541597;gnomADv4_1_AF_joint_XY=0.54383;gnomADv4_1_AN_grpmax_joint=213;gnomADv4_1_AN_joint=108016;gnomADv4_1_AN_joint_XX=77626;gnomADv4_1_AN_joint_XY=30390;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=13958;gnomADv4_1_nhomalt_joint_XX=13958;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2946322 chrX_2946322_CTTTTTTTTT_C CTTTTTTTTT C 29 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=1.0;AF_XX=.;AF_XY=1.0;AN=1;AN_XX=0;AN_XY=1;AQ=29;CADDIndel_PHREDscore=1.13;CADDIndel_Rawscore=0.013955;CSQ=-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||6/10|ENST00000381134.9:c.855-197_855-189del|||||||rs747661858||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||||||||||rs747661858|3292|-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||6/10|ENST00000540563.6:c.855-197_855-189del|||||||rs747661858||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||7/11|ENST00000545496.6:c.930-197_930-189del|||||||rs747661858||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||7/11|ENST00000672027.1:c.930-197_930-189del|||||||rs747661858||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||6/10|ENST00000672097.1:c.855-197_855-189del|||||||rs747661858||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||5/5|ENST00000672606.1:c.431-3132_431-3124del|||||||rs747661858||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||5/9|ENST00000672761.1:c.693-197_693-189del|||||||rs747661858||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||6/10|ENST00000673032.1:c.693-197_693-189del|||||||rs747661858||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||7/11|ENST00000681963.1:c.930-197_930-189del|||||||rs747661858||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||5/9|ENST00000682184.1:c.732-197_732-189del|||||||rs747661858||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||5/8|ENST00000682364.1:c.431-3132_431-3124del|||||||rs747661858||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||2/6|ENST00000683191.1:n.635-197_635-189del|||||||rs747661858||-1||HGNC|HGNC:719|||||||||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||7/11|ENST00000683290.1:c.930-197_930-189del|||||||rs747661858||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||6/10|ENST00000683677.1:c.843-197_843-189del|||||||rs747661858||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||6/8|ENST00000683958.1:c.855-197_855-189del|||||||rs747661858||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||4/6|ENST00000684077.1:c.693-197_693-189del|||||||rs747661858||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||5/9|ENST00000684117.1:c.693-197_693-189del|||||||rs747661858||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||6/10|ENST00000684364.1:c.843-197_843-189del|||||||rs747661858||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||5/9|ENST00000684687.1:c.693-197_693-189del|||||||rs747661858||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||5/8|ENST00000684738.1:c.431-3132_431-3124del|||||||rs747661858||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||TTTTTTTTT|TTTTTTTTT||1||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||6/10|NM_000047.3:c.855-197_855-189del|||||||rs747661858||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||TTTTTTTTT|TTTTTTTTT||||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||7/11|NM_001282628.2:c.930-197_930-189del|||||||rs747661858||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||TTTTTTTTT|TTTTTTTTT||||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||5/9|NM_001282631.2:c.693-197_693-189del|||||||rs747661858||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||TTTTTTTTT|TTTTTTTTT||||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||6/10|NM_001369079.1:c.882-197_882-189del|||||||rs747661858||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||TTTTTTTTT|TTTTTTTTT||||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||7/11|NM_001369080.1:c.930-197_930-189del|||||||rs747661858||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||TTTTTTTTT|TTTTTTTTT||||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||6/10|XM_005274519.5:c.855-197_855-189del|||||||rs747661858||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||TTTTTTTTT|TTTTTTTTT||||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||5/9|XM_005274521.5:c.693-197_693-189del|||||||rs747661858||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||TTTTTTTTT|TTTTTTTTT||||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||5/8|XM_011545521.2:c.431-3132_431-3124del|||||||rs747661858||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||TTTTTTTTT|TTTTTTTTT||||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||4/7|XM_047442109.1:c.506-3132_506-3124del|||||||rs747661858||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||TTTTTTTTT|TTTTTTTTT||||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||5/8|XM_047442110.1:c.458-3132_458-3124del|||||||rs747661858||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||TTTTTTTTT|TTTTTTTTT||||chrX:g.2946338_2946346del|benign&likely_benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2946338_2946346del;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=ARSL:415;ClinVar_Variation_ID=1236668;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30648;gnomADv4_1_AC_joint_XX=25491;gnomADv4_1_AC_joint_XY=5157;gnomADv4_1_AF_grpmax_joint=0.646552;gnomADv4_1_AF_joint=0.442436;gnomADv4_1_AF_joint_XX=0.438472;gnomADv4_1_AF_joint_XY=0.463134;gnomADv4_1_AN_grpmax_joint=116;gnomADv4_1_AN_joint=69271;gnomADv4_1_AN_joint_XX=58136;gnomADv4_1_AN_joint_XY=11135;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=5784;gnomADv4_1_nhomalt_joint_XX=5784;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2947255 chrX_2947255_G_T G T 55 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=55;CADD_PHREDscore=0.115;CADD_Rawscore=-0.574816;CSQ=T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||6/10|ENST00000381134.9:c.855-1121C>A|||||||rs169828||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||||||||||rs169828|2368|-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||6/10|ENST00000540563.6:c.855-1121C>A|||||||rs169828||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||7/11|ENST00000545496.6:c.930-1121C>A|||||||rs169828||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||7/11|ENST00000672027.1:c.930-1121C>A|||||||rs169828||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||6/10|ENST00000672097.1:c.855-1121C>A|||||||rs169828||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||5/5|ENST00000672606.1:c.431-4056C>A|||||||rs169828||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||5/9|ENST00000672761.1:c.693-1121C>A|||||||rs169828||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||6/10|ENST00000673032.1:c.693-1121C>A|||||||rs169828||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined||||||||||rs169828|4655|-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||7/11|ENST00000681963.1:c.930-1121C>A|||||||rs169828||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||5/9|ENST00000682184.1:c.732-1121C>A|||||||rs169828||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||5/8|ENST00000682364.1:c.431-4056C>A|||||||rs169828||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined||||||||||rs169828|4483|-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined||||||||||rs169828|4655|-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||2/6|ENST00000683191.1:n.635-1121C>A|||||||rs169828||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||7/11|ENST00000683290.1:c.930-1121C>A|||||||rs169828||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||6/10|ENST00000683677.1:c.843-1121C>A|||||||rs169828||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||6/8|ENST00000683958.1:c.855-1121C>A|||||||rs169828||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined||||||||||rs169828|4655|-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||4/6|ENST00000684077.1:c.693-1121C>A|||||||rs169828||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||5/9|ENST00000684117.1:c.693-1121C>A|||||||rs169828||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||6/10|ENST00000684364.1:c.843-1121C>A|||||||rs169828||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||5/9|ENST00000684687.1:c.693-1121C>A|||||||rs169828||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||5/8|ENST00000684738.1:c.431-4056C>A|||||||rs169828||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||6/10|NM_000047.3:c.855-1121C>A|||||||rs169828||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||G|G||||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||7/11|NM_001282628.2:c.930-1121C>A|||||||rs169828||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||G|G||||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||5/9|NM_001282631.2:c.693-1121C>A|||||||rs169828||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||G|G||||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||6/10|NM_001369079.1:c.882-1121C>A|||||||rs169828||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||G|G||||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||7/11|NM_001369080.1:c.930-1121C>A|||||||rs169828||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||G|G||||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||6/10|XM_005274519.5:c.855-1121C>A|||||||rs169828||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||G|G||||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||5/9|XM_005274521.5:c.693-1121C>A|||||||rs169828||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||G|G||||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||5/8|XM_011545521.2:c.431-4056C>A|||||||rs169828||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||G|G||||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||4/7|XM_047442109.1:c.506-4056C>A|||||||rs169828||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||G|G||||chrX:g.2947255G>T|||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||5/8|XM_047442110.1:c.458-4056C>A|||||||rs169828||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||G|G||||chrX:g.2947255G>T|||1||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|ARSE|0.00|0.00|0.00|0.00|-25|11|13|-39;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683958,ENST00000684045,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=59233;gnomADv4_1_AC_joint_XX=42184;gnomADv4_1_AC_joint_XY=17049;gnomADv4_1_AF_grpmax_joint=0.566208;gnomADv4_1_AF_joint=0.537007;gnomADv4_1_AF_joint_XX=0.542839;gnomADv4_1_AF_joint_XY=0.523104;gnomADv4_1_AN_grpmax_joint=52735;gnomADv4_1_AN_joint=110302;gnomADv4_1_AN_joint_XX=77710;gnomADv4_1_AN_joint_XY=32592;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=11621;gnomADv4_1_nhomalt_joint_XX=11621;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2947889 chrX_2947889_A_G A G 52 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=0.2;CADD_Rawscore=-0.4273;CSQ=G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||6/10|ENST00000381134.9:c.854+1415T>C|||||||rs211645||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||||||||||rs211645|1734|-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000483425|protein_coding_CDS_not_defined||||||||||rs211645|4434|-1||HGNC|HGNC:719|5||||||||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||6/10|ENST00000540563.6:c.854+1415T>C|||||||rs211645||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||7/11|ENST00000545496.6:c.929+1415T>C|||||||rs211645||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||7/11|ENST00000672027.1:c.929+1415T>C|||||||rs211645||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||6/10|ENST00000672097.1:c.854+1415T>C|||||||rs211645||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||5/5|ENST00000672606.1:c.431-4690T>C|||||||rs211645||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||5/9|ENST00000672761.1:c.692+1415T>C|||||||rs211645||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||6/10|ENST00000673032.1:c.692+1415T>C|||||||rs211645||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined||||||||||rs211645|4021|-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||7/11|ENST00000681963.1:c.929+1415T>C|||||||rs211645||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||5/9|ENST00000682184.1:c.731+1415T>C|||||||rs211645||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||5/8|ENST00000682364.1:c.431-4690T>C|||||||rs211645||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined||||||||||rs211645|3849|-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined||||||||||rs211645|4021|-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||2/6|ENST00000683191.1:n.634+1415T>C|||||||rs211645||-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||7/11|ENST00000683290.1:c.929+1415T>C|||||||rs211645||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||6/10|ENST00000683677.1:c.842+1415T>C|||||||rs211645||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683854|retained_intron||||||||||rs211645|4434|-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||6/8|ENST00000683958.1:c.854+1415T>C|||||||rs211645||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined||||||||||rs211645|4021|-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||4/6|ENST00000684077.1:c.692+1415T>C|||||||rs211645||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||5/9|ENST00000684117.1:c.692+1415T>C|||||||rs211645||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||6/10|ENST00000684364.1:c.842+1415T>C|||||||rs211645||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||5/9|ENST00000684687.1:c.692+1415T>C|||||||rs211645||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||5/8|ENST00000684738.1:c.431-4690T>C|||||||rs211645||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||A|A||1||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||6/10|NM_000047.3:c.854+1415T>C|||||||rs211645||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||A|A||||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||7/11|NM_001282628.2:c.929+1415T>C|||||||rs211645||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||A|A||||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||5/9|NM_001282631.2:c.692+1415T>C|||||||rs211645||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||A|A||||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||6/10|NM_001369079.1:c.881+1415T>C|||||||rs211645||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||A|A||||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||7/11|NM_001369080.1:c.929+1415T>C|||||||rs211645||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||A|A||||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||6/10|XM_005274519.5:c.854+1415T>C|||||||rs211645||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||A|A||||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||5/9|XM_005274521.5:c.692+1415T>C|||||||rs211645||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||A|A||||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||5/8|XM_011545521.2:c.431-4690T>C|||||||rs211645||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||A|A||||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||4/7|XM_047442109.1:c.506-4690T>C|||||||rs211645||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||A|A||||chrX:g.2947889A>G|||||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||5/8|XM_047442110.1:c.458-4690T>C|||||||rs211645||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||A|A||||chrX:g.2947889A>G|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|ARSE|0.00|0.00|0.00|0.00|40|-13|-28|-27;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000483425,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683854,ENST00000683958,ENST00000684045,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=56806;gnomADv4_1_AC_joint_XX=39883;gnomADv4_1_AC_joint_XY=16923;gnomADv4_1_AF_grpmax_joint=0.62212;gnomADv4_1_AF_joint=0.508827;gnomADv4_1_AF_joint_XX=0.512899;gnomADv4_1_AF_joint_XY=0.499483;gnomADv4_1_AN_grpmax_joint=217;gnomADv4_1_AN_joint=111641;gnomADv4_1_AN_joint_XX=77760;gnomADv4_1_AN_joint_XY=33881;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=10501;gnomADv4_1_nhomalt_joint_XX=10501;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2949001 chrX_2949001_C_A C A 52 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=52;CADD_PHREDscore=1.564;CADD_Rawscore=0.099071;CSQ=A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||6/10|ENST00000381134.9:c.854+303G>T|||||||rs211646||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||||||||||rs211646|622|-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000483425|protein_coding_CDS_not_defined||||||||||rs211646|3322|-1||HGNC|HGNC:719|5||||||||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||6/10|ENST00000540563.6:c.854+303G>T|||||||rs211646||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||7/11|ENST00000545496.6:c.929+303G>T|||||||rs211646||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||7/11|ENST00000672027.1:c.929+303G>T|||||||rs211646||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||6/10|ENST00000672097.1:c.854+303G>T|||||||rs211646||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||5/5|ENST00000672606.1:c.430+4142G>T|||||||rs211646||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||5/9|ENST00000672761.1:c.692+303G>T|||||||rs211646||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||6/10|ENST00000673032.1:c.692+303G>T|||||||rs211646||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined||||||||||rs211646|2909|-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||7/11|ENST00000681963.1:c.929+303G>T|||||||rs211646||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||5/9|ENST00000682184.1:c.731+303G>T|||||||rs211646||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||5/8|ENST00000682364.1:c.430+4142G>T|||||||rs211646||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined||||||||||rs211646|2737|-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined||||||||||rs211646|2909|-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||2/6|ENST00000683191.1:n.634+303G>T|||||||rs211646||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||7/11|ENST00000683290.1:c.929+303G>T|||||||rs211646||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||6/10|ENST00000683677.1:c.842+303G>T|||||||rs211646||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683854|retained_intron||||||||||rs211646|3322|-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||6/8|ENST00000683958.1:c.854+303G>T|||||||rs211646||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined||||||||||rs211646|2909|-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||4/6|ENST00000684077.1:c.692+303G>T|||||||rs211646||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||5/9|ENST00000684117.1:c.692+303G>T|||||||rs211646||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||6/10|ENST00000684364.1:c.842+303G>T|||||||rs211646||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||5/9|ENST00000684687.1:c.692+303G>T|||||||rs211646||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||5/8|ENST00000684738.1:c.430+4142G>T|||||||rs211646||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||6/10|NM_000047.3:c.854+303G>T|||||||rs211646||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||C|C||||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||7/11|NM_001282628.2:c.929+303G>T|||||||rs211646||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||C|C||||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||5/9|NM_001282631.2:c.692+303G>T|||||||rs211646||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||C|C||||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||6/10|NM_001369079.1:c.881+303G>T|||||||rs211646||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||C|C||||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||7/11|NM_001369080.1:c.929+303G>T|||||||rs211646||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||C|C||||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||6/10|XM_005274519.5:c.854+303G>T|||||||rs211646||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||C|C||||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||5/9|XM_005274521.5:c.692+303G>T|||||||rs211646||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||C|C||||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||5/8|XM_011545521.2:c.430+4142G>T|||||||rs211646||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||C|C||||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||4/7|XM_047442109.1:c.505+4142G>T|||||||rs211646||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||C|C||||chrX:g.2949001C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||5/8|XM_047442110.1:c.457+4142G>T|||||||rs211646||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||C|C||||chrX:g.2949001C>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2949001C>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=ARSL:415;ClinVar_Variation_ID=1291383;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|ARSE|0.00|0.00|0.00|0.00|36|-47|-7|36;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000483425,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683854,ENST00000683958,ENST00000684045,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=47507;gnomADv4_1_AC_joint_XX=34403;gnomADv4_1_AC_joint_XY=13104;gnomADv4_1_AF_grpmax_joint=0.554166;gnomADv4_1_AF_joint=0.438398;gnomADv4_1_AF_joint_XX=0.443749;gnomADv4_1_AF_joint_XY=0.424944;gnomADv4_1_AN_grpmax_joint=52145;gnomADv4_1_AN_joint=108365;gnomADv4_1_AN_joint_XX=77528;gnomADv4_1_AN_joint_XY=30837;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=8368;gnomADv4_1_nhomalt_joint_XX=8368;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2950513 chrX_2950513_A_G A G 53 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADD_PHREDscore=1.561;CADD_Rawscore=0.098588;CSQ=G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||5/10|ENST00000381134.9:c.431-786T>C|||||||rs211642||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||5/5|ENST00000438544.5:c.431-786T>C|||||||rs211642||-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000483425|protein_coding_CDS_not_defined||||||||||rs211642|1810|-1||HGNC|HGNC:719|5||||||||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||5/10|ENST00000540563.6:c.431-786T>C|||||||rs211642||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||6/11|ENST00000545496.6:c.506-786T>C|||||||rs211642||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||6/11|ENST00000672027.1:c.506-786T>C|||||||rs211642||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||5/10|ENST00000672097.1:c.431-786T>C|||||||rs211642||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||5/5|ENST00000672606.1:c.430+2630T>C|||||||rs211642||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||4/9|ENST00000672761.1:c.269-786T>C|||||||rs211642||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||5/10|ENST00000673032.1:c.269-786T>C|||||||rs211642||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined||||||||||rs211642|1397|-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||6/11|ENST00000681963.1:c.506-786T>C|||||||rs211642||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||4/9|ENST00000682184.1:c.308-786T>C|||||||rs211642||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||5/8|ENST00000682364.1:c.430+2630T>C|||||||rs211642||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined||||||||||rs211642|1225|-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined||||||||||rs211642|1397|-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||1/6|ENST00000683191.1:n.211-786T>C|||||||rs211642||-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||6/11|ENST00000683290.1:c.506-786T>C|||||||rs211642||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||5/10|ENST00000683677.1:c.419-786T>C|||||||rs211642||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683854|retained_intron||||||||||rs211642|1810|-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||5/8|ENST00000683958.1:c.431-786T>C|||||||rs211642||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined||||||||||rs211642|1397|-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||3/6|ENST00000684077.1:c.269-786T>C|||||||rs211642||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||4/9|ENST00000684117.1:c.269-786T>C|||||||rs211642||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||5/10|ENST00000684364.1:c.419-786T>C|||||||rs211642||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||4/9|ENST00000684687.1:c.269-786T>C|||||||rs211642||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||5/8|ENST00000684738.1:c.430+2630T>C|||||||rs211642||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||A|A||1||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||5/10|NM_000047.3:c.431-786T>C|||||||rs211642||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||A|A||||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||6/11|NM_001282628.2:c.506-786T>C|||||||rs211642||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||A|A||||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||4/9|NM_001282631.2:c.269-786T>C|||||||rs211642||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||A|A||||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||5/10|NM_001369079.1:c.458-786T>C|||||||rs211642||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||A|A||||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||6/11|NM_001369080.1:c.506-786T>C|||||||rs211642||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||A|A||||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||5/10|XM_005274519.5:c.431-786T>C|||||||rs211642||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||A|A||||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||4/9|XM_005274521.5:c.269-786T>C|||||||rs211642||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||A|A||||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||5/8|XM_011545521.2:c.430+2630T>C|||||||rs211642||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||A|A||||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||4/7|XM_047442109.1:c.505+2630T>C|||||||rs211642||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||A|A||||chrX:g.2950513A>G|||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||5/8|XM_047442110.1:c.457+2630T>C|||||||rs211642||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||A|A||||chrX:g.2950513A>G|||1||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|ARSE|0.00|0.00|0.00|0.00|31|-30|5|-47;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000483425,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683854,ENST00000683958,ENST00000684045,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=48880;gnomADv4_1_AC_joint_XX=34902;gnomADv4_1_AC_joint_XY=13978;gnomADv4_1_AF_grpmax_joint=0.545024;gnomADv4_1_AF_joint=0.443388;gnomADv4_1_AF_joint_XX=0.449027;gnomADv4_1_AF_joint_XY=0.429907;gnomADv4_1_AN_grpmax_joint=211;gnomADv4_1_AN_joint=110242;gnomADv4_1_AN_joint_XX=77728;gnomADv4_1_AN_joint_XY=32514;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=8040;gnomADv4_1_nhomalt_joint_XX=8040;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2951614 chrX_2951614_CAAAAA_C CAAAAA C 37 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.5;AF_XX=0.5;AF_XY=.;AN=2;AN_XX=2;AN_XY=0;AQ=37;CADDIndel_PHREDscore=1.341;CADDIndel_Rawscore=0.05873;CSQ=-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||5/10|ENST00000381134.9:c.430+1524_430+1528del|||||||rs1164575386||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||5/5|ENST00000438544.5:c.430+1524_430+1528del|||||||rs1164575386||-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000483425|protein_coding_CDS_not_defined||||||||||rs1164575386|704|-1||HGNC|HGNC:719|5||||||||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||5/10|ENST00000540563.6:c.430+1524_430+1528del|||||||rs1164575386||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||6/11|ENST00000545496.6:c.505+1524_505+1528del|||||||rs1164575386||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||6/11|ENST00000672027.1:c.505+1524_505+1528del|||||||rs1164575386||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||5/10|ENST00000672097.1:c.430+1524_430+1528del|||||||rs1164575386||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||5/5|ENST00000672606.1:c.430+1524_430+1528del|||||||rs1164575386||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||4/9|ENST00000672761.1:c.268+1524_268+1528del|||||||rs1164575386||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||5/10|ENST00000673032.1:c.268+1524_268+1528del|||||||rs1164575386||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined||||||||||rs1164575386|291|-1||HGNC|HGNC:719|||||||||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||6/11|ENST00000681963.1:c.505+1524_505+1528del|||||||rs1164575386||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||4/9|ENST00000682184.1:c.308-1892_308-1888del|||||||rs1164575386||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||5/8|ENST00000682364.1:c.430+1524_430+1528del|||||||rs1164575386||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined||||||||||rs1164575386|119|-1||HGNC|HGNC:719|||||||||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined||||||||||rs1164575386|291|-1||HGNC|HGNC:719|||||||||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||1/6|ENST00000683191.1:n.210+1524_210+1528del|||||||rs1164575386||-1||HGNC|HGNC:719|||||||||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||6/11|ENST00000683290.1:c.505+1524_505+1528del|||||||rs1164575386||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||5/10|ENST00000683677.1:c.418+1524_418+1528del|||||||rs1164575386||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683854|retained_intron||||||||||rs1164575386|704|-1||HGNC|HGNC:719|||||||||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||5/8|ENST00000683958.1:c.430+1524_430+1528del|||||||rs1164575386||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined||||||||||rs1164575386|291|-1||HGNC|HGNC:719|||||||||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||3/6|ENST00000684077.1:c.268+1524_268+1528del|||||||rs1164575386||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||4/9|ENST00000684117.1:c.268+1524_268+1528del|||||||rs1164575386||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||5/10|ENST00000684364.1:c.418+1524_418+1528del|||||||rs1164575386||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||4/9|ENST00000684687.1:c.268+1524_268+1528del|||||||rs1164575386||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||5/8|ENST00000684738.1:c.430+1524_430+1528del|||||||rs1164575386||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||AAAAA|AAAAA||1||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||5/10|NM_000047.3:c.430+1524_430+1528del|||||||rs1164575386||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||AAAAA|AAAAA||||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||6/11|NM_001282628.2:c.505+1524_505+1528del|||||||rs1164575386||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||AAAAA|AAAAA||||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||4/9|NM_001282631.2:c.268+1524_268+1528del|||||||rs1164575386||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||AAAAA|AAAAA||||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||5/10|NM_001369079.1:c.457+1524_457+1528del|||||||rs1164575386||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||AAAAA|AAAAA||||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||6/11|NM_001369080.1:c.505+1524_505+1528del|||||||rs1164575386||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||AAAAA|AAAAA||||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||5/10|XM_005274519.5:c.430+1524_430+1528del|||||||rs1164575386||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||AAAAA|AAAAA||||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||4/9|XM_005274521.5:c.268+1524_268+1528del|||||||rs1164575386||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||AAAAA|AAAAA||||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||5/8|XM_011545521.2:c.430+1524_430+1528del|||||||rs1164575386||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||AAAAA|AAAAA||||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||4/7|XM_047442109.1:c.505+1524_505+1528del|||||||rs1164575386||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||AAAAA|AAAAA||||chrX:g.2951631_2951635del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||5/8|XM_047442110.1:c.457+1524_457+1528del|||||||rs1164575386||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||AAAAA|AAAAA||||chrX:g.2951631_2951635del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000483425,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683854,ENST00000683958,ENST00000684045,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=476;gnomADv4_1_AC_joint_XX=453;gnomADv4_1_AC_joint_XY=23;gnomADv4_1_AF_grpmax_joint=0.0279218;gnomADv4_1_AF_joint=0.0164923;gnomADv4_1_AF_joint_XX=0.0171189;gnomADv4_1_AF_joint_XY=0.00958333;gnomADv4_1_AN_grpmax_joint=12535;gnomADv4_1_AN_joint=28862;gnomADv4_1_AN_joint_XX=26462;gnomADv4_1_AN_joint_XY=2400;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=2;gnomADv4_1_nhomalt_joint_XX=2;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2951800 chrX_2951800_TA_T TA T 53 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=53;CADDIndel_PHREDscore=0.247;CADDIndel_Rawscore=-0.372409;CSQ=-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||5/10|ENST00000381134.9:c.430+1342del|||||||rs35592318||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||5/5|ENST00000438544.5:c.430+1342del|||||||rs35592318||-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000483425|protein_coding_CDS_not_defined||||||||||rs35592318|522|-1||HGNC|HGNC:719|5||||||||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||5/10|ENST00000540563.6:c.430+1342del|||||||rs35592318||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||6/11|ENST00000545496.6:c.505+1342del|||||||rs35592318||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||6/11|ENST00000672027.1:c.505+1342del|||||||rs35592318||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||5/10|ENST00000672097.1:c.430+1342del|||||||rs35592318||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||5/5|ENST00000672606.1:c.430+1342del|||||||rs35592318||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||4/9|ENST00000672761.1:c.268+1342del|||||||rs35592318||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||5/10|ENST00000673032.1:c.268+1342del|||||||rs35592318||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined||||||||||rs35592318|109|-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||6/11|ENST00000681963.1:c.505+1342del|||||||rs35592318||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||4/9|ENST00000682184.1:c.308-2074del|||||||rs35592318||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||5/8|ENST00000682364.1:c.430+1342del|||||||rs35592318||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined|6/6||ENST00000682745.1:n.1275del||1275|||||rs35592318||-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined||||||||||rs35592318|109|-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||1/6|ENST00000683191.1:n.210+1342del|||||||rs35592318||-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||6/11|ENST00000683290.1:c.505+1342del|||||||rs35592318||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||5/10|ENST00000683677.1:c.418+1342del|||||||rs35592318||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683854|retained_intron||||||||||rs35592318|522|-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||5/8|ENST00000683958.1:c.430+1342del|||||||rs35592318||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined||||||||||rs35592318|109|-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||3/6|ENST00000684077.1:c.268+1342del|||||||rs35592318||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||4/9|ENST00000684117.1:c.268+1342del|||||||rs35592318||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||5/10|ENST00000684364.1:c.418+1342del|||||||rs35592318||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||4/9|ENST00000684687.1:c.268+1342del|||||||rs35592318||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||5/8|ENST00000684738.1:c.430+1342del|||||||rs35592318||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||A|A||1||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||5/10|NM_000047.3:c.430+1342del|||||||rs35592318||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||A|A||||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||6/11|NM_001282628.2:c.505+1342del|||||||rs35592318||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||A|A||||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||4/9|NM_001282631.2:c.268+1342del|||||||rs35592318||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||A|A||||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||5/10|NM_001369079.1:c.457+1342del|||||||rs35592318||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||A|A||||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||6/11|NM_001369080.1:c.505+1342del|||||||rs35592318||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||A|A||||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||5/10|XM_005274519.5:c.430+1342del|||||||rs35592318||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||A|A||||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||4/9|XM_005274521.5:c.268+1342del|||||||rs35592318||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||A|A||||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||5/8|XM_011545521.2:c.430+1342del|||||||rs35592318||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||A|A||||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||4/7|XM_047442109.1:c.505+1342del|||||||rs35592318||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||A|A||||chrX:g.2951815del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||5/8|XM_047442110.1:c.457+1342del|||||||rs35592318||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||A|A||||chrX:g.2951815del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|ARSE|0.00|0.00|0.00|0.00|4|-6|36|-6;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000483425,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683854,ENST00000683958,ENST00000684045,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=30656;gnomADv4_1_AC_joint_XX=24891;gnomADv4_1_AC_joint_XY=5765;gnomADv4_1_AF_grpmax_joint=0.485872;gnomADv4_1_AF_joint=0.364614;gnomADv4_1_AF_joint_XX=0.373212;gnomADv4_1_AF_joint_XY=0.331627;gnomADv4_1_AN_grpmax_joint=44380;gnomADv4_1_AN_joint=84078;gnomADv4_1_AN_joint_XX=66694;gnomADv4_1_AN_joint_XY=17384;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5178;gnomADv4_1_nhomalt_joint_XX=5178;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2951874 chrX_2951874_GTTTTTTT_G GTTTTTTT G 51 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.666667;AF_XX=0.5;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=51;CADDIndel_PHREDscore=1.782;CADDIndel_Rawscore=0.133461;CSQ=-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||5/10|ENST00000381134.9:c.430+1262_430+1268del|||||||rs63021261||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||5/5|ENST00000438544.5:c.430+1262_430+1268del|||||||rs63021261||-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000483425|protein_coding_CDS_not_defined||||||||||rs63021261|442|-1||HGNC|HGNC:719|5||||||||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||5/10|ENST00000540563.6:c.430+1262_430+1268del|||||||rs63021261||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||6/11|ENST00000545496.6:c.505+1262_505+1268del|||||||rs63021261||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||6/11|ENST00000672027.1:c.505+1262_505+1268del|||||||rs63021261||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||5/10|ENST00000672097.1:c.430+1262_430+1268del|||||||rs63021261||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||5/5|ENST00000672606.1:c.430+1262_430+1268del|||||||rs63021261||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||4/9|ENST00000672761.1:c.268+1262_268+1268del|||||||rs63021261||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||5/10|ENST00000673032.1:c.268+1262_268+1268del|||||||rs63021261||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined||||||||||rs63021261|29|-1||HGNC|HGNC:719|||||||||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||6/11|ENST00000681963.1:c.505+1262_505+1268del|||||||rs63021261||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||4/9|ENST00000682184.1:c.308-2154_308-2148del|||||||rs63021261||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||5/8|ENST00000682364.1:c.430+1262_430+1268del|||||||rs63021261||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined|6/6||ENST00000682745.1:n.1195_1201del||1195-1201|||||rs63021261||-1||HGNC|HGNC:719|||||||||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined||||||||||rs63021261|29|-1||HGNC|HGNC:719|||||||||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||1/6|ENST00000683191.1:n.210+1262_210+1268del|||||||rs63021261||-1||HGNC|HGNC:719|||||||||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||6/11|ENST00000683290.1:c.505+1262_505+1268del|||||||rs63021261||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||5/10|ENST00000683677.1:c.418+1262_418+1268del|||||||rs63021261||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683854|retained_intron||||||||||rs63021261|442|-1||HGNC|HGNC:719|||||||||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||5/8|ENST00000683958.1:c.430+1262_430+1268del|||||||rs63021261||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined||||||||||rs63021261|29|-1||HGNC|HGNC:719|||||||||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||3/6|ENST00000684077.1:c.268+1262_268+1268del|||||||rs63021261||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||4/9|ENST00000684117.1:c.268+1262_268+1268del|||||||rs63021261||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||5/10|ENST00000684364.1:c.418+1262_418+1268del|||||||rs63021261||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||4/9|ENST00000684687.1:c.268+1262_268+1268del|||||||rs63021261||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||5/8|ENST00000684738.1:c.430+1262_430+1268del|||||||rs63021261||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||TTTTTTT|TTTTTTT||1||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||5/10|NM_000047.3:c.430+1262_430+1268del|||||||rs63021261||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||TTTTTTT|TTTTTTT||||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||6/11|NM_001282628.2:c.505+1262_505+1268del|||||||rs63021261||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||TTTTTTT|TTTTTTT||||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||4/9|NM_001282631.2:c.268+1262_268+1268del|||||||rs63021261||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||TTTTTTT|TTTTTTT||||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||5/10|NM_001369079.1:c.457+1262_457+1268del|||||||rs63021261||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||TTTTTTT|TTTTTTT||||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||6/11|NM_001369080.1:c.505+1262_505+1268del|||||||rs63021261||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||TTTTTTT|TTTTTTT||||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||5/10|XM_005274519.5:c.430+1262_430+1268del|||||||rs63021261||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||TTTTTTT|TTTTTTT||||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||4/9|XM_005274521.5:c.268+1262_268+1268del|||||||rs63021261||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||TTTTTTT|TTTTTTT||||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||5/8|XM_011545521.2:c.430+1262_430+1268del|||||||rs63021261||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||TTTTTTT|TTTTTTT||||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||4/7|XM_047442109.1:c.505+1262_505+1268del|||||||rs63021261||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||TTTTTTT|TTTTTTT||||chrX:g.2951884_2951890del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||5/8|XM_047442110.1:c.457+1262_457+1268del|||||||rs63021261||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||TTTTTTT|TTTTTTT||||chrX:g.2951884_2951890del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000483425,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683854,ENST00000683958,ENST00000684045,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36876;gnomADv4_1_AC_joint_XX=27317;gnomADv4_1_AC_joint_XY=9559;gnomADv4_1_AF_grpmax_joint=0.558947;gnomADv4_1_AF_joint=0.438791;gnomADv4_1_AF_joint_XX=0.415076;gnomADv4_1_AF_joint_XY=0.524413;gnomADv4_1_AN_grpmax_joint=1900;gnomADv4_1_AN_joint=84040;gnomADv4_1_AN_joint_XX=65812;gnomADv4_1_AN_joint_XY=18228;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=5714;gnomADv4_1_nhomalt_joint_XX=5714;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2952272 chrX_2952272_C_T C T 50 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=0.406;CADD_Rawscore=-0.245102;CSQ=T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||5/10|ENST00000381134.9:c.430+871G>A|||||||rs211641||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||5/5|ENST00000438544.5:c.430+871G>A|||||||rs211641||-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000483425|protein_coding_CDS_not_defined||||||||||rs211641|51|-1||HGNC|HGNC:719|5||||||||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||5/10|ENST00000540563.6:c.430+871G>A|||||||rs211641||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||6/11|ENST00000545496.6:c.505+871G>A|||||||rs211641||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||6/11|ENST00000672027.1:c.505+871G>A|||||||rs211641||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||5/10|ENST00000672097.1:c.430+871G>A|||||||rs211641||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||5/5|ENST00000672606.1:c.430+871G>A|||||||rs211641||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||4/9|ENST00000672761.1:c.268+871G>A|||||||rs211641||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||5/10|ENST00000673032.1:c.268+871G>A|||||||rs211641||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined|7/7||ENST00000681960.1:n.1045G>A||1045|||||rs211641||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||6/11|ENST00000681963.1:c.505+871G>A|||||||rs211641||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||4/9|ENST00000682184.1:c.308-2545G>A|||||||rs211641||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||5/8|ENST00000682364.1:c.430+871G>A|||||||rs211641||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined|6/6||ENST00000682745.1:n.804G>A||804|||||rs211641||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined|5/5||ENST00000683071.1:n.611G>A||611|||||rs211641||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||1/6|ENST00000683191.1:n.210+871G>A|||||||rs211641||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||6/11|ENST00000683290.1:c.505+871G>A|||||||rs211641||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||5/10|ENST00000683677.1:c.418+871G>A|||||||rs211641||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|downstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683854|retained_intron||||||||||rs211641|51|-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||5/8|ENST00000683958.1:c.430+871G>A|||||||rs211641||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined|7/7||ENST00000684045.1:n.1033G>A||1033|||||rs211641||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||3/6|ENST00000684077.1:c.268+871G>A|||||||rs211641||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||4/9|ENST00000684117.1:c.268+871G>A|||||||rs211641||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||5/10|ENST00000684364.1:c.418+871G>A|||||||rs211641||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||4/9|ENST00000684687.1:c.268+871G>A|||||||rs211641||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||5/8|ENST00000684738.1:c.430+871G>A|||||||rs211641||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||5/10|NM_000047.3:c.430+871G>A|||||||rs211641||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||C|C||||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||6/11|NM_001282628.2:c.505+871G>A|||||||rs211641||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||C|C||||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||4/9|NM_001282631.2:c.268+871G>A|||||||rs211641||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||C|C||||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||5/10|NM_001369079.1:c.457+871G>A|||||||rs211641||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||C|C||||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||6/11|NM_001369080.1:c.505+871G>A|||||||rs211641||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||C|C||||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||5/10|XM_005274519.5:c.430+871G>A|||||||rs211641||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||C|C||||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||4/9|XM_005274521.5:c.268+871G>A|||||||rs211641||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||C|C||||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||5/8|XM_011545521.2:c.430+871G>A|||||||rs211641||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||C|C||||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||4/7|XM_047442109.1:c.505+871G>A|||||||rs211641||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||C|C||||chrX:g.2952272C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||5/8|XM_047442110.1:c.457+871G>A|||||||rs211641||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||C|C||||chrX:g.2952272C>T|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|ARSE|0.00|0.00|0.00|0.00|25|0|-15|5;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000483425,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683854,ENST00000683958,ENST00000684045,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=52824;gnomADv4_1_AC_joint_XX=37876;gnomADv4_1_AC_joint_XY=14948;gnomADv4_1_AF_grpmax_joint=0.608133;gnomADv4_1_AF_joint=0.482032;gnomADv4_1_AF_joint_XX=0.488068;gnomADv4_1_AF_joint_XY=0.467388;gnomADv4_1_AN_grpmax_joint=30074;gnomADv4_1_AN_joint=109586;gnomADv4_1_AN_joint_XX=77604;gnomADv4_1_AN_joint_XY=31982;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=9639;gnomADv4_1_nhomalt_joint_XX=9639;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2952412 chrX_2952412_C_T C T 51 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=51;CADD_PHREDscore=3.841;CADD_Rawscore=0.351107;CSQ=T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||5/10|ENST00000381134.9:c.430+731G>A|||||||rs147779965||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||5/5|ENST00000438544.5:c.430+731G>A|||||||rs147779965||-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000483425|protein_coding_CDS_not_defined|6/6||ENST00000483425.2:n.1096G>A||1096|||||rs147779965||-1||HGNC|HGNC:719|5||||||||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||5/10|ENST00000540563.6:c.430+731G>A|||||||rs147779965||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||6/11|ENST00000545496.6:c.505+731G>A|||||||rs147779965||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||6/11|ENST00000672027.1:c.505+731G>A|||||||rs147779965||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||5/10|ENST00000672097.1:c.430+731G>A|||||||rs147779965||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||5/5|ENST00000672606.1:c.430+731G>A|||||||rs147779965||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||4/9|ENST00000672761.1:c.268+731G>A|||||||rs147779965||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||5/10|ENST00000673032.1:c.268+731G>A|||||||rs147779965||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined|7/7||ENST00000681960.1:n.905G>A||905|||||rs147779965||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||6/11|ENST00000681963.1:c.505+731G>A|||||||rs147779965||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||4/9|ENST00000682184.1:c.308-2685G>A|||||||rs147779965||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||5/8|ENST00000682364.1:c.430+731G>A|||||||rs147779965||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined|6/6||ENST00000682745.1:n.664G>A||664|||||rs147779965||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined|5/5||ENST00000683071.1:n.471G>A||471|||||rs147779965||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||1/6|ENST00000683191.1:n.210+731G>A|||||||rs147779965||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||6/11|ENST00000683290.1:c.505+731G>A|||||||rs147779965||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||5/10|ENST00000683677.1:c.418+731G>A|||||||rs147779965||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683854|retained_intron|5/5||ENST00000683854.1:n.1246G>A||1246|||||rs147779965||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||5/8|ENST00000683958.1:c.430+731G>A|||||||rs147779965||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined|7/7||ENST00000684045.1:n.893G>A||893|||||rs147779965||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||3/6|ENST00000684077.1:c.268+731G>A|||||||rs147779965||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||4/9|ENST00000684117.1:c.268+731G>A|||||||rs147779965||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||5/10|ENST00000684364.1:c.418+731G>A|||||||rs147779965||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||4/9|ENST00000684687.1:c.268+731G>A|||||||rs147779965||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||5/8|ENST00000684738.1:c.430+731G>A|||||||rs147779965||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||5/10|NM_000047.3:c.430+731G>A|||||||rs147779965||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||C|C||||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||6/11|NM_001282628.2:c.505+731G>A|||||||rs147779965||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||C|C||||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||4/9|NM_001282631.2:c.268+731G>A|||||||rs147779965||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||C|C||||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||5/10|NM_001369079.1:c.457+731G>A|||||||rs147779965||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||C|C||||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||6/11|NM_001369080.1:c.505+731G>A|||||||rs147779965||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||C|C||||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||5/10|XM_005274519.5:c.430+731G>A|||||||rs147779965||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||C|C||||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||4/9|XM_005274521.5:c.268+731G>A|||||||rs147779965||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||C|C||||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||5/8|XM_011545521.2:c.430+731G>A|||||||rs147779965||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||C|C||||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||4/7|XM_047442109.1:c.505+731G>A|||||||rs147779965||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||C|C||||chrX:g.2952412C>T|||||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||5/8|XM_047442110.1:c.457+731G>A|||||||rs147779965||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||C|C||||chrX:g.2952412C>T|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|ARSE|0.00|0.00|0.19|0.00|4|3|4|31;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000483425,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683854,ENST00000683958,ENST00000684045,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=8378;gnomADv4_1_AC_joint_XX=6017;gnomADv4_1_AC_joint_XY=2361;gnomADv4_1_AF_grpmax_joint=0.109597;gnomADv4_1_AF_joint=0.0753817;gnomADv4_1_AF_joint_XX=0.0773692;gnomADv4_1_AF_joint_XY=0.0707501;gnomADv4_1_AN_grpmax_joint=52994;gnomADv4_1_AN_joint=111141;gnomADv4_1_AN_joint_XX=77770;gnomADv4_1_AN_joint_XY=33371;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=325;gnomADv4_1_nhomalt_joint_XX=325;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2952970 chrX_2952970_G_C G C 54 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=54;CADD_PHREDscore=0.857;CADD_Rawscore=-0.057428;CSQ=C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||5/10|ENST00000381134.9:c.430+173C>G|||||||rs211640||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||5/5|ENST00000438544.5:c.430+173C>G|||||||rs211640||-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000483425|protein_coding_CDS_not_defined|6/6||ENST00000483425.2:n.538C>G||538|||||rs211640||-1||HGNC|HGNC:719|5||||||||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||5/10|ENST00000540563.6:c.430+173C>G|||||||rs211640||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||6/11|ENST00000545496.6:c.505+173C>G|||||||rs211640||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||6/11|ENST00000672027.1:c.505+173C>G|||||||rs211640||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||5/10|ENST00000672097.1:c.430+173C>G|||||||rs211640||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||5/5|ENST00000672606.1:c.430+173C>G|||||||rs211640||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||4/9|ENST00000672761.1:c.268+173C>G|||||||rs211640||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||5/10|ENST00000673032.1:c.268+173C>G|||||||rs211640||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined||6/6|ENST00000681960.1:n.756+173C>G|||||||rs211640||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||6/11|ENST00000681963.1:c.505+173C>G|||||||rs211640||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||4/9|ENST00000682184.1:c.307+2446C>G|||||||rs211640||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||5/8|ENST00000682364.1:c.430+173C>G|||||||rs211640||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined||5/5|ENST00000682745.1:n.515+173C>G|||||||rs211640||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined||4/4|ENST00000683071.1:n.322+173C>G|||||||rs211640||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||1/6|ENST00000683191.1:n.210+173C>G|||||||rs211640||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||6/11|ENST00000683290.1:c.505+173C>G|||||||rs211640||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||5/10|ENST00000683677.1:c.418+173C>G|||||||rs211640||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683854|retained_intron|5/5||ENST00000683854.1:n.688C>G||688|||||rs211640||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||5/8|ENST00000683958.1:c.430+173C>G|||||||rs211640||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined||6/6|ENST00000684045.1:n.744+173C>G|||||||rs211640||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||3/6|ENST00000684077.1:c.268+173C>G|||||||rs211640||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||4/9|ENST00000684117.1:c.268+173C>G|||||||rs211640||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||5/10|ENST00000684364.1:c.418+173C>G|||||||rs211640||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||4/9|ENST00000684687.1:c.268+173C>G|||||||rs211640||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||5/8|ENST00000684738.1:c.430+173C>G|||||||rs211640||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||5/10|NM_000047.3:c.430+173C>G|||||||rs211640||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||G|G||||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||6/11|NM_001282628.2:c.505+173C>G|||||||rs211640||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||G|G||||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||4/9|NM_001282631.2:c.268+173C>G|||||||rs211640||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||G|G||||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||5/10|NM_001369079.1:c.457+173C>G|||||||rs211640||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||G|G||||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||6/11|NM_001369080.1:c.505+173C>G|||||||rs211640||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||G|G||||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||5/10|XM_005274519.5:c.430+173C>G|||||||rs211640||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||G|G||||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||4/9|XM_005274521.5:c.268+173C>G|||||||rs211640||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||G|G||||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||5/8|XM_011545521.2:c.430+173C>G|||||||rs211640||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||G|G||||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||4/7|XM_047442109.1:c.505+173C>G|||||||rs211640||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||G|G||||chrX:g.2952970G>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||5/8|XM_047442110.1:c.457+173C>G|||||||rs211640||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||G|G||||chrX:g.2952970G>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2952970G>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=ARSL:415;ClinVar_Variation_ID=1279710;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|ARSE|0.00|0.00|0.00|0.00|-1|22|50|-24;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000483425,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683854,ENST00000683958,ENST00000684045,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=223406;gnomADv4_1_AC_joint_XX=162600;gnomADv4_1_AC_joint_XY=60806;gnomADv4_1_AF_grpmax_joint=0.531563;gnomADv4_1_AF_joint=0.447422;gnomADv4_1_AF_joint_XX=0.443332;gnomADv4_1_AF_joint_XY=0.45874;gnomADv4_1_AN_grpmax_joint=2598;gnomADv4_1_AN_joint=499318;gnomADv4_1_AN_joint_XX=366768;gnomADv4_1_AN_joint_XY=132550;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=38084;gnomADv4_1_nhomalt_joint_XX=38084;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2953433 chrX_2953433_G_A G A 49 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=2.514;CADD_Rawscore=0.225225;CSQ=A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||4/10|ENST00000381134.9:c.308-168C>T|||||||rs211639||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||4/5|ENST00000438544.5:c.308-168C>T|||||||rs211639||-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000483425|protein_coding_CDS_not_defined||4/5|ENST00000483425.2:n.393-168C>T|||||||rs211639||-1||HGNC|HGNC:719|5||||||||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||4/10|ENST00000540563.6:c.308-168C>T|||||||rs211639||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||5/11|ENST00000545496.6:c.383-168C>T|||||||rs211639||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||5/11|ENST00000672027.1:c.383-168C>T|||||||rs211639||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||4/10|ENST00000672097.1:c.308-168C>T|||||||rs211639||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||4/5|ENST00000672606.1:c.308-168C>T|||||||rs211639||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||3/9|ENST00000672761.1:c.146-168C>T|||||||rs211639||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||4/10|ENST00000673032.1:c.146-168C>T|||||||rs211639||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined||5/6|ENST00000681960.1:n.634-168C>T|||||||rs211639||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||5/11|ENST00000681963.1:c.383-168C>T|||||||rs211639||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||4/9|ENST00000682184.1:c.307+1983C>T|||||||rs211639||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||4/8|ENST00000682364.1:c.308-168C>T|||||||rs211639||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined||4/5|ENST00000682745.1:n.393-168C>T|||||||rs211639||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined||3/4|ENST00000683071.1:n.200-168C>T|||||||rs211639||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||||||||||rs211639|81|-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||5/11|ENST00000683290.1:c.383-168C>T|||||||rs211639||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||4/10|ENST00000683677.1:c.296-168C>T|||||||rs211639||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683854|retained_intron||4/4|ENST00000683854.1:n.393-168C>T|||||||rs211639||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||4/8|ENST00000683958.1:c.308-168C>T|||||||rs211639||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined||5/6|ENST00000684045.1:n.622-168C>T|||||||rs211639||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||2/6|ENST00000684077.1:c.146-168C>T|||||||rs211639||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||3/9|ENST00000684117.1:c.146-168C>T|||||||rs211639||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||4/10|ENST00000684364.1:c.296-168C>T|||||||rs211639||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||3/9|ENST00000684687.1:c.146-168C>T|||||||rs211639||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||4/8|ENST00000684738.1:c.308-168C>T|||||||rs211639||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||4/10|NM_000047.3:c.308-168C>T|||||||rs211639||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||G|G||||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||5/11|NM_001282628.2:c.383-168C>T|||||||rs211639||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||G|G||||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||3/9|NM_001282631.2:c.146-168C>T|||||||rs211639||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||G|G||||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||4/10|NM_001369079.1:c.335-168C>T|||||||rs211639||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||G|G||||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||5/11|NM_001369080.1:c.383-168C>T|||||||rs211639||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||G|G||||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||4/10|XM_005274519.5:c.308-168C>T|||||||rs211639||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||G|G||||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||3/9|XM_005274521.5:c.146-168C>T|||||||rs211639||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||G|G||||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||4/8|XM_011545521.2:c.308-168C>T|||||||rs211639||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||G|G||||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||3/7|XM_047442109.1:c.383-168C>T|||||||rs211639||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||G|G||||chrX:g.2953433G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||4/8|XM_047442110.1:c.335-168C>T|||||||rs211639||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||G|G||||chrX:g.2953433G>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2953433G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=ARSL:415;ClinVar_Variation_ID=1222071;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|ARSE|0.00|0.00|0.00|0.00|-23|28|29|-39;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000483425,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683854,ENST00000683958,ENST00000684045,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=37739;gnomADv4_1_AC_joint_XX=26567;gnomADv4_1_AC_joint_XY=11172;gnomADv4_1_AF_grpmax_joint=0.466636;gnomADv4_1_AF_joint=0.338527;gnomADv4_1_AF_joint_XX=0.341531;gnomADv4_1_AF_joint_XY=0.331592;gnomADv4_1_AN_grpmax_joint=52992;gnomADv4_1_AN_joint=111480;gnomADv4_1_AN_joint_XX=77788;gnomADv4_1_AN_joint_XY=33692;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5534;gnomADv4_1_nhomalt_joint_XX=5534;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2955804 chrX_2955804_C_A C A 48 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=48;CADD_PHREDscore=0.891;CADD_Rawscore=-0.047459;CSQ=A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||3/10|ENST00000381134.9:c.186-267G>T|||||||rs190023||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||3/5|ENST00000438544.5:c.186-267G>T|||||||rs190023||-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000483425|protein_coding_CDS_not_defined||3/5|ENST00000483425.2:n.271-267G>T|||||||rs190023||-1||HGNC|HGNC:719|5||||||||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||3/10|ENST00000540563.6:c.186-267G>T|||||||rs190023||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||4/11|ENST00000545496.6:c.261-267G>T|||||||rs190023||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||4/11|ENST00000672027.1:c.261-267G>T|||||||rs190023||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||3/10|ENST00000672097.1:c.186-267G>T|||||||rs190023||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||3/5|ENST00000672606.1:c.186-267G>T|||||||rs190023||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||2/9|ENST00000672761.1:c.24-267G>T|||||||rs190023||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||3/10|ENST00000673032.1:c.24-267G>T|||||||rs190023||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined||4/6|ENST00000681960.1:n.512-267G>T|||||||rs190023||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||4/11|ENST00000681963.1:c.261-267G>T|||||||rs190023||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||3/9|ENST00000682184.1:c.186-267G>T|||||||rs190023||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||3/8|ENST00000682364.1:c.186-267G>T|||||||rs190023||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined||3/5|ENST00000682745.1:n.271-267G>T|||||||rs190023||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined||2/4|ENST00000683071.1:n.78-267G>T|||||||rs190023||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683191|retained_intron||||||||||rs190023|2452|-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||4/11|ENST00000683290.1:c.261-267G>T|||||||rs190023||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||3/10|ENST00000683677.1:c.174-267G>T|||||||rs190023||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683854|retained_intron||3/4|ENST00000683854.1:n.271-267G>T|||||||rs190023||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||3/8|ENST00000683958.1:c.186-267G>T|||||||rs190023||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined||4/6|ENST00000684045.1:n.500-267G>T|||||||rs190023||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||1/6|ENST00000684077.1:c.24-267G>T|||||||rs190023||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||2/9|ENST00000684117.1:c.24-267G>T|||||||rs190023||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||3/10|ENST00000684364.1:c.174-267G>T|||||||rs190023||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||2/9|ENST00000684687.1:c.24-267G>T|||||||rs190023||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||3/8|ENST00000684738.1:c.186-267G>T|||||||rs190023||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||3/10|NM_000047.3:c.186-267G>T|||||||rs190023||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||C|C||||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||4/11|NM_001282628.2:c.261-267G>T|||||||rs190023||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||C|C||||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||2/9|NM_001282631.2:c.24-267G>T|||||||rs190023||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||C|C||||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||3/10|NM_001369079.1:c.213-267G>T|||||||rs190023||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||C|C||||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||4/11|NM_001369080.1:c.261-267G>T|||||||rs190023||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||C|C||||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||3/10|XM_005274519.5:c.186-267G>T|||||||rs190023||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||C|C||||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||2/9|XM_005274521.5:c.24-267G>T|||||||rs190023||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||C|C||||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||3/8|XM_011545521.2:c.186-267G>T|||||||rs190023||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||C|C||||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||2/7|XM_047442109.1:c.261-267G>T|||||||rs190023||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||C|C||||chrX:g.2955804C>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||3/8|XM_047442110.1:c.213-267G>T|||||||rs190023||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||C|C||||chrX:g.2955804C>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2955804C>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=ARSL:415;ClinVar_Variation_ID=1183704;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|ARSE|0.00|0.00|0.00|0.00|-26|47|2|-39;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000483425,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683191,ENST00000683290,ENST00000683677,ENST00000683854,ENST00000683958,ENST00000684045,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=36201;gnomADv4_1_AC_joint_XX=25587;gnomADv4_1_AC_joint_XY=10614;gnomADv4_1_AF_grpmax_joint=0.448814;gnomADv4_1_AF_joint=0.325889;gnomADv4_1_AF_joint_XX=0.329119;gnomADv4_1_AF_joint_XY=0.318356;gnomADv4_1_AN_grpmax_joint=52866;gnomADv4_1_AN_joint=111084;gnomADv4_1_AN_joint_XX=77744;gnomADv4_1_AN_joint_XY=33340;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=5121;gnomADv4_1_nhomalt_joint_XX=5121;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2959794 chrX_2959794_G_A G A 50 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=2.347;CADD_Rawscore=0.206647;CSQ=A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||2/10|ENST00000381134.9:c.23+584C>T|||||||rs211636||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||2/5|ENST00000438544.5:c.23+584C>T|||||||rs211636||-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000483425|protein_coding_CDS_not_defined||2/5|ENST00000483425.2:n.108+584C>T|||||||rs211636||-1||HGNC|HGNC:719|5||||||||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||2/10|ENST00000540563.6:c.23+584C>T|||||||rs211636||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|5_prime_UTR_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding|3/12||ENST00000545496.6:c.-94C>T||199|||||rs211636||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||0|1|7||,A|5_prime_UTR_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding|3/12||ENST00000672027.1:c.-94C>T||235|||||rs211636||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||0|1|8||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||2/10|ENST00000672097.1:c.23+584C>T|||||||rs211636||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||2/5|ENST00000672606.1:c.23+584C>T|||||||rs211636||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||2/9|ENST00000672761.1:c.23+584C>T|||||||rs211636||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||3/10|ENST00000673032.1:c.23+584C>T|||||||rs211636||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined|3/7||ENST00000681960.1:n.158C>T||158|||||rs211636||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|5_prime_UTR_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding|3/12||ENST00000681963.1:c.-94C>T||165|||||rs211636||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||0|1|7||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||2/9|ENST00000682184.1:c.23+584C>T|||||||rs211636||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||2/8|ENST00000682364.1:c.23+584C>T|||||||rs211636||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined||2/5|ENST00000682745.1:n.108+584C>T|||||||rs211636||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined||2/4|ENST00000683071.1:n.77+584C>T|||||||rs211636||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|5_prime_UTR_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding|3/12||ENST00000683290.1:c.-94C>T||251|||||rs211636||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||0|1|9||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||2/10|ENST00000683677.1:c.23+584C>T|||||||rs211636||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683854|retained_intron||2/4|ENST00000683854.1:n.108+584C>T|||||||rs211636||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||2/8|ENST00000683958.1:c.23+584C>T|||||||rs211636||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined|3/7||ENST00000684045.1:n.158C>T||158|||||rs211636||-1||HGNC|HGNC:719|||||||||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||1/6|ENST00000684077.1:c.23+584C>T|||||||rs211636||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||2/9|ENST00000684117.1:c.23+584C>T|||||||rs211636||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||2/10|ENST00000684364.1:c.23+584C>T|||||||rs211636||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||2/9|ENST00000684687.1:c.23+584C>T|||||||rs211636||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||2/8|ENST00000684738.1:c.23+584C>T|||||||rs211636||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||G|G||1||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||2/10|NM_000047.3:c.23+584C>T|||||||rs211636||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||G|G||||chrX:g.2959794G>A|benign||1||||||||||,A|5_prime_UTR_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding|3/12||NM_001282628.2:c.-94C>T||256|||||rs211636||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||G|G||||chrX:g.2959794G>A|benign||1||||||0|1|7||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||2/9|NM_001282631.2:c.23+584C>T|||||||rs211636||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||G|G||||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||2/10|NM_001369079.1:c.50+584C>T|||||||rs211636||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||G|G||||chrX:g.2959794G>A|benign||1||||||||||,A|5_prime_UTR_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding|3/12||NM_001369080.1:c.-94C>T||235|||||rs211636||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||G|G||||chrX:g.2959794G>A|benign||1||||||0|1|8||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||2/10|XM_005274519.5:c.23+584C>T|||||||rs211636||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||G|G||||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||2/9|XM_005274521.5:c.23+584C>T|||||||rs211636||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||G|G||||chrX:g.2959794G>A|benign||1||||||||||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||2/8|XM_011545521.2:c.23+584C>T|||||||rs211636||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||G|G||||chrX:g.2959794G>A|benign||1||||||||||,A|5_prime_UTR_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding|1/8||XM_047442109.1:c.-94C>T||32|||||rs211636||-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||G|G||||chrX:g.2959794G>A|benign||1||||||0|1|4||,A|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||2/8|XM_047442110.1:c.50+584C>T|||||||rs211636||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||G|G||||chrX:g.2959794G>A|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2959794G>A;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=ARSL:415;ClinVar_Variation_ID=674716;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=A|ARSE|0.00|0.00|0.01|0.00|2|43|2|-39;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000483425,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683290,ENST00000683677,ENST00000683854,ENST00000683958,ENST00000684045,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,0,0,.,.,.,.,.,0,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,0,.,.,0,.,.,.,0,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,1,1,.,.,.,.,.,1,.,.,.,.,1,.,.,.,.,.,.,.,.,.,.,1,.,.,1,.,.,.,1,.;VEP_existing_uORFs=.,.,.,.,7,8,.,.,.,.,.,7,.,.,.,.,9,.,.,.,.,.,.,.,.,.,.,7,.,.,8,.,.,.,4,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=454803;gnomADv4_1_AC_joint_XX=318758;gnomADv4_1_AC_joint_XY=136045;gnomADv4_1_AF_grpmax_joint=0.527223;gnomADv4_1_AF_joint=0.441013;gnomADv4_1_AF_joint_XX=0.432314;gnomADv4_1_AF_joint_XY=0.462833;gnomADv4_1_AN_grpmax_joint=39213;gnomADv4_1_AN_joint=1031270;gnomADv4_1_AN_joint_XX=737330;gnomADv4_1_AN_joint_XY=293940;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=73167;gnomADv4_1_nhomalt_joint_XX=73167;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2959835 chrX_2959835_T_C T C 49 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=49;CADD_PHREDscore=0.388;CADD_Rawscore=-0.256644;CSQ=C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||2/10|ENST00000381134.9:c.23+543A>G|||||||rs211637||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||2/5|ENST00000438544.5:c.23+543A>G|||||||rs211637||-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000483425|protein_coding_CDS_not_defined||2/5|ENST00000483425.2:n.108+543A>G|||||||rs211637||-1||HGNC|HGNC:719|5||||||||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||2/10|ENST00000540563.6:c.23+543A>G|||||||rs211637||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|5_prime_UTR_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding|3/12||ENST00000545496.6:c.-135A>G||158|||||rs211637||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||0|1|7||,C|5_prime_UTR_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding|3/12||ENST00000672027.1:c.-135A>G||194|||||rs211637||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||0|1|8||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||2/10|ENST00000672097.1:c.23+543A>G|||||||rs211637||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||2/5|ENST00000672606.1:c.23+543A>G|||||||rs211637||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||2/9|ENST00000672761.1:c.23+543A>G|||||||rs211637||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||3/10|ENST00000673032.1:c.23+543A>G|||||||rs211637||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined|3/7||ENST00000681960.1:n.117A>G||117|||||rs211637||-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|5_prime_UTR_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding|3/12||ENST00000681963.1:c.-135A>G||124|||||rs211637||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||0|1|7||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||2/9|ENST00000682184.1:c.23+543A>G|||||||rs211637||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||2/8|ENST00000682364.1:c.23+543A>G|||||||rs211637||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined||2/5|ENST00000682745.1:n.108+543A>G|||||||rs211637||-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined||2/4|ENST00000683071.1:n.77+543A>G|||||||rs211637||-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|5_prime_UTR_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding|3/12||ENST00000683290.1:c.-135A>G||210|||||rs211637||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||0|1|9||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||2/10|ENST00000683677.1:c.23+543A>G|||||||rs211637||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683854|retained_intron||2/4|ENST00000683854.1:n.108+543A>G|||||||rs211637||-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||2/8|ENST00000683958.1:c.23+543A>G|||||||rs211637||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|non_coding_transcript_exon_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined|3/7||ENST00000684045.1:n.117A>G||117|||||rs211637||-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||1/6|ENST00000684077.1:c.23+543A>G|||||||rs211637||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||2/9|ENST00000684117.1:c.23+543A>G|||||||rs211637||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||2/10|ENST00000684364.1:c.23+543A>G|||||||rs211637||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||2/9|ENST00000684687.1:c.23+543A>G|||||||rs211637||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||2/8|ENST00000684738.1:c.23+543A>G|||||||rs211637||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||2/10|NM_000047.3:c.23+543A>G|||||||rs211637||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||T|T||||chrX:g.2959835T>C|benign||1||||||||||,C|5_prime_UTR_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding|3/12||NM_001282628.2:c.-135A>G||215|||||rs211637||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||T|T||||chrX:g.2959835T>C|benign||1||||||0|1|7||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||2/9|NM_001282631.2:c.23+543A>G|||||||rs211637||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||T|T||||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||2/10|NM_001369079.1:c.50+543A>G|||||||rs211637||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||T|T||||chrX:g.2959835T>C|benign||1||||||||||,C|5_prime_UTR_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding|3/12||NM_001369080.1:c.-135A>G||194|||||rs211637||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||T|T||||chrX:g.2959835T>C|benign||1||||||0|1|8||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||2/10|XM_005274519.5:c.23+543A>G|||||||rs211637||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||T|T||||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||2/9|XM_005274521.5:c.23+543A>G|||||||rs211637||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||T|T||||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||2/8|XM_011545521.2:c.23+543A>G|||||||rs211637||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||T|T||||chrX:g.2959835T>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||||||||||rs211637|10|-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||T|T||||chrX:g.2959835T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||2/8|XM_047442110.1:c.50+543A>G|||||||rs211637||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||T|T||||chrX:g.2959835T>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2959835T>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=ARSL:415;ClinVar_Variation_ID=1268163;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|ARSE|0.00|0.00|0.00|0.00|47|-33|47|3;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000483425,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683290,ENST00000683677,ENST00000683854,ENST00000683958,ENST00000684045,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,0,0,.,.,.,.,.,0,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,0,.,.,0,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,1,1,.,.,.,.,.,1,.,.,.,.,1,.,.,.,.,.,.,.,.,.,.,1,.,.,1,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,7,8,.,.,.,.,.,7,.,.,.,.,9,.,.,.,.,.,.,.,.,.,.,7,.,.,8,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=327184;gnomADv4_1_AC_joint_XX=244864;gnomADv4_1_AC_joint_XY=82320;gnomADv4_1_AF_grpmax_joint=0.536285;gnomADv4_1_AF_joint=0.478417;gnomADv4_1_AF_joint_XX=0.468916;gnomADv4_1_AF_joint_XY=0.5091;gnomADv4_1_AN_grpmax_joint=2191;gnomADv4_1_AN_joint=683889;gnomADv4_1_AN_joint_XX=522192;gnomADv4_1_AN_joint_XY=161697;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=58745;gnomADv4_1_nhomalt_joint_XX=58745;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2960138 chrX_2960138_A_G A G 11 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=0.0;AF_XX=.;AF_XY=0.0;AN=1;AN_XX=0;AN_XY=1;AQ=11;CADD_PHREDscore=5.097;CADD_Rawscore=0.464991;CSQ=G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||2/10|ENST00000381134.9:c.23+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||2/5|ENST00000438544.5:c.23+240T>C|||||||rs12847525||-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000483425|protein_coding_CDS_not_defined||2/5|ENST00000483425.2:n.108+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|5||||||||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||2/10|ENST00000540563.6:c.23+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||2/11|ENST00000545496.6:c.-189+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||2/11|ENST00000672027.1:c.-189+240T>C|||||||rs12847525||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||2/10|ENST00000672097.1:c.23+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||2/5|ENST00000672606.1:c.23+240T>C|||||||rs12847525||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||2/9|ENST00000672761.1:c.23+240T>C|||||||rs12847525||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||3/10|ENST00000673032.1:c.23+240T>C|||||||rs12847525||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined||2/6|ENST00000681960.1:n.63+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||2/11|ENST00000681963.1:c.-187+240T>C|||||||rs12847525||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||2/9|ENST00000682184.1:c.23+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||2/8|ENST00000682364.1:c.23+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined||2/5|ENST00000682745.1:n.108+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined||2/4|ENST00000683071.1:n.77+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||2/11|ENST00000683290.1:c.-189+240T>C|||||||rs12847525||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||2/10|ENST00000683677.1:c.23+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683854|retained_intron||2/4|ENST00000683854.1:n.108+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||2/8|ENST00000683958.1:c.23+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined||2/6|ENST00000684045.1:n.63+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|||||||||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||1/6|ENST00000684077.1:c.23+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||2/9|ENST00000684117.1:c.23+240T>C|||||||rs12847525||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||2/10|ENST00000684364.1:c.23+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||2/9|ENST00000684687.1:c.23+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||2/8|ENST00000684738.1:c.23+240T>C|||||||rs12847525||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||A|A||1||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||2/10|NM_000047.3:c.23+240T>C|||||||rs12847525||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||A|A||||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||2/11|NM_001282628.2:c.-189+240T>C|||||||rs12847525||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||A|A||||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||2/9|NM_001282631.2:c.23+240T>C|||||||rs12847525||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||A|A||||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||2/10|NM_001369079.1:c.50+240T>C|||||||rs12847525||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||A|A||||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||2/11|NM_001369080.1:c.-189+240T>C|||||||rs12847525||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||A|A||||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||2/10|XM_005274519.5:c.23+240T>C|||||||rs12847525||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||A|A||||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||2/9|XM_005274521.5:c.23+240T>C|||||||rs12847525||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||A|A||||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||2/8|XM_011545521.2:c.23+240T>C|||||||rs12847525||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||A|A||||chrX:g.2960138A>G|benign||1||||||||||,G|upstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||||||||||rs12847525|313|-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||A|A||||chrX:g.2960138A>G|benign||1||||||||||,G|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||2/8|XM_047442110.1:c.50+240T>C|||||||rs12847525||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||A|A||||chrX:g.2960138A>G|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2960138A>G;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=ARSL:415;ClinVar_Variation_ID=1242803;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=G|ARSE|0.00|0.00|0.00|0.00|-29|29|-13|-8;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000483425,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683290,ENST00000683677,ENST00000683854,ENST00000683958,ENST00000684045,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=15060;gnomADv4_1_AC_joint_XX=14164;gnomADv4_1_AC_joint_XY=896;gnomADv4_1_AF_grpmax_joint=0.358698;gnomADv4_1_AF_joint=0.217398;gnomADv4_1_AF_joint_XX=0.2758;gnomADv4_1_AF_joint_XY=0.0500056;gnomADv4_1_AN_grpmax_joint=19476;gnomADv4_1_AN_joint=69274;gnomADv4_1_AN_joint_XX=51356;gnomADv4_1_AN_joint_XY=17918;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=afr;gnomADv4_1_nhomalt_joint=2195;gnomADv4_1_nhomalt_joint_XX=2195;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2960193 chrX_2960193_C_T C T 21 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.333333;AF_XX=0.5;AF_XY=0.0;AN=3;AN_XX=2;AN_XY=1;AQ=21;CADD_PHREDscore=3.85;CADD_Rawscore=0.351918;CSQ=T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||2/10|ENST00000381134.9:c.23+185G>A|||||||rs211638||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||2/5|ENST00000438544.5:c.23+185G>A|||||||rs211638||-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000483425|protein_coding_CDS_not_defined||2/5|ENST00000483425.2:n.108+185G>A|||||||rs211638||-1||HGNC|HGNC:719|5||||||||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||2/10|ENST00000540563.6:c.23+185G>A|||||||rs211638||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||2/11|ENST00000545496.6:c.-189+185G>A|||||||rs211638||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||2/11|ENST00000672027.1:c.-189+185G>A|||||||rs211638||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||2/10|ENST00000672097.1:c.23+185G>A|||||||rs211638||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||2/5|ENST00000672606.1:c.23+185G>A|||||||rs211638||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||2/9|ENST00000672761.1:c.23+185G>A|||||||rs211638||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||3/10|ENST00000673032.1:c.23+185G>A|||||||rs211638||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined||2/6|ENST00000681960.1:n.63+185G>A|||||||rs211638||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||2/11|ENST00000681963.1:c.-187+185G>A|||||||rs211638||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||2/9|ENST00000682184.1:c.23+185G>A|||||||rs211638||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||2/8|ENST00000682364.1:c.23+185G>A|||||||rs211638||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined||2/5|ENST00000682745.1:n.108+185G>A|||||||rs211638||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined||2/4|ENST00000683071.1:n.77+185G>A|||||||rs211638||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||2/11|ENST00000683290.1:c.-189+185G>A|||||||rs211638||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||2/10|ENST00000683677.1:c.23+185G>A|||||||rs211638||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683854|retained_intron||2/4|ENST00000683854.1:n.108+185G>A|||||||rs211638||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||2/8|ENST00000683958.1:c.23+185G>A|||||||rs211638||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined||2/6|ENST00000684045.1:n.63+185G>A|||||||rs211638||-1||HGNC|HGNC:719|||||||||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||1/6|ENST00000684077.1:c.23+185G>A|||||||rs211638||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||2/9|ENST00000684117.1:c.23+185G>A|||||||rs211638||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||2/10|ENST00000684364.1:c.23+185G>A|||||||rs211638||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||2/9|ENST00000684687.1:c.23+185G>A|||||||rs211638||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||2/8|ENST00000684738.1:c.23+185G>A|||||||rs211638||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||C|C||1||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||2/10|NM_000047.3:c.23+185G>A|||||||rs211638||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||C|C||||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||2/11|NM_001282628.2:c.-189+185G>A|||||||rs211638||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||C|C||||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||2/9|NM_001282631.2:c.23+185G>A|||||||rs211638||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||C|C||||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||2/10|NM_001369079.1:c.50+185G>A|||||||rs211638||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||C|C||||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||2/11|NM_001369080.1:c.-189+185G>A|||||||rs211638||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||C|C||||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||2/10|XM_005274519.5:c.23+185G>A|||||||rs211638||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||C|C||||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||2/9|XM_005274521.5:c.23+185G>A|||||||rs211638||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||C|C||||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||2/8|XM_011545521.2:c.23+185G>A|||||||rs211638||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||C|C||||chrX:g.2960193C>T|benign||1||||||||||,T|upstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||||||||||rs211638|368|-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||C|C||||chrX:g.2960193C>T|benign||1||||||||||,T|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||2/8|XM_047442110.1:c.50+185G>A|||||||rs211638||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||C|C||||chrX:g.2960193C>T|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2960193C>T;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=ARSL:415;ClinVar_Variation_ID=1240848;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=T|ARSE|0.00|0.00|0.00|0.00|-2|-26|-1|-49;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000483425,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683290,ENST00000683677,ENST00000683854,ENST00000683958,ENST00000684045,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=4336;gnomADv4_1_AC_joint_XX=4219;gnomADv4_1_AC_joint_XY=117;gnomADv4_1_AF_grpmax_joint=0.162791;gnomADv4_1_AF_joint=0.0780699;gnomADv4_1_AF_joint_XX=0.102185;gnomADv4_1_AF_joint_XY=0.00820937;gnomADv4_1_AN_grpmax_joint=86;gnomADv4_1_AN_joint=55540;gnomADv4_1_AN_joint_XX=41288;gnomADv4_1_AN_joint_XY=14252;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=237;gnomADv4_1_nhomalt_joint_XX=237;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2960255 chrX_2960255_T_C T C 30 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=1.0;AF_XX=.;AF_XY=1.0;AN=1;AN_XX=0;AN_XY=1;AQ=30;CADD_PHREDscore=4.22;CADD_Rawscore=0.384815;CSQ=C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||2/10|ENST00000381134.9:c.23+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||2/5|ENST00000438544.5:c.23+123A>G|||||||rs5982940||-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000483425|protein_coding_CDS_not_defined||2/5|ENST00000483425.2:n.108+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|5||||||||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||2/10|ENST00000540563.6:c.23+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||2/11|ENST00000545496.6:c.-189+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||2/11|ENST00000672027.1:c.-189+123A>G|||||||rs5982940||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||2/10|ENST00000672097.1:c.23+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||2/5|ENST00000672606.1:c.23+123A>G|||||||rs5982940||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||2/9|ENST00000672761.1:c.23+123A>G|||||||rs5982940||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||3/10|ENST00000673032.1:c.23+123A>G|||||||rs5982940||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined||2/6|ENST00000681960.1:n.63+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||2/11|ENST00000681963.1:c.-187+123A>G|||||||rs5982940||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||2/9|ENST00000682184.1:c.23+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||2/8|ENST00000682364.1:c.23+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined||2/5|ENST00000682745.1:n.108+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined||2/4|ENST00000683071.1:n.77+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||2/11|ENST00000683290.1:c.-189+123A>G|||||||rs5982940||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||2/10|ENST00000683677.1:c.23+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683854|retained_intron||2/4|ENST00000683854.1:n.108+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||2/8|ENST00000683958.1:c.23+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined||2/6|ENST00000684045.1:n.63+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684077|protein_coding||1/6|ENST00000684077.1:c.23+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|||ENSP00000506767||A0A804HHU6.12|UPI001B898EB1|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||2/9|ENST00000684117.1:c.23+123A>G|||||||rs5982940||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||2/10|ENST00000684364.1:c.23+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||2/9|ENST00000684687.1:c.23+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||2/8|ENST00000684738.1:c.23+123A>G|||||||rs5982940||-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||2/10|NM_000047.3:c.23+123A>G|||||||rs5982940||-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||T|T||||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||2/11|NM_001282628.2:c.-189+123A>G|||||||rs5982940||-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||T|T||||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||2/9|NM_001282631.2:c.23+123A>G|||||||rs5982940||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||T|T||||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||2/10|NM_001369079.1:c.50+123A>G|||||||rs5982940||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||T|T||||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||2/11|NM_001369080.1:c.-189+123A>G|||||||rs5982940||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||T|T||||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||2/10|XM_005274519.5:c.23+123A>G|||||||rs5982940||-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||T|T||||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||2/9|XM_005274521.5:c.23+123A>G|||||||rs5982940||-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||T|T||||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||2/8|XM_011545521.2:c.23+123A>G|||||||rs5982940||-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||T|T||||chrX:g.2960255T>C|benign||1||||||||||,C|upstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442109.1|protein_coding||||||||||rs5982940|430|-1||EntrezGene|HGNC:719|||XP_047298065.1||||||RefSeq||T|T||||chrX:g.2960255T>C|benign||1||||||||||,C|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||2/8|XM_047442110.1:c.50+123A>G|||||||rs5982940||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||T|T||||chrX:g.2960255T>C|benign||1||||||||||;ClinVar_CLNDN=not_provided;ClinVar_CLNHGVS=NC_000023.11:g.2960255T>C;ClinVar_CLNSIG=Benign;ClinVar_GENEINFO=ARSL:415;ClinVar_Variation_ID=1244645;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;SpliceAI=C|ARSE|0.00|0.00|0.00|0.00|10|-14|18|10;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000483425,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683290,ENST00000683677,ENST00000683854,ENST00000683958,ENST00000684045,ENST00000684077,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442109.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=202718;gnomADv4_1_AC_joint_XX=153805;gnomADv4_1_AC_joint_XY=48913;gnomADv4_1_AF_grpmax_joint=0.998452;gnomADv4_1_AF_joint=0.984164;gnomADv4_1_AF_joint_XX=0.983672;gnomADv4_1_AF_joint_XY=0.985712;gnomADv4_1_AN_grpmax_joint=12917;gnomADv4_1_AN_joint=205980;gnomADv4_1_AN_joint_XX=156358;gnomADv4_1_AN_joint_XY=49622;gnomADv4_1_FILTER=BOTH_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=75731;gnomADv4_1_nhomalt_joint_XX=75731;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2965549 chrX_2965549_AT_A AT A 47 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=47;CADDIndel_PHREDscore=0.051;CADDIndel_Rawscore=-0.797273;CSQ=-|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000381134|protein_coding||||||||||rs199621591|1209|-1||HGNC|HGNC:719|1|CCDS14122.1|ENSP00000370526|P51690.187||UPI000049E10C|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000438544|protein_coding||||||||||rs199621591|1286|-1|cds_end_NF|HGNC|HGNC:719|2||ENSP00000406528||C9J5G7.85|UPI000059DAB3|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000483425|protein_coding_CDS_not_defined||||||||||rs199621591|1262|-1||HGNC|HGNC:719|5||||||||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||1/10|ENST00000540563.6:c.-21+2599del|||||||rs199621591||-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000545496|protein_coding||||||||||rs199621591|1266|-1||HGNC|HGNC:719|2|CCDS75948.1|ENSP00000441417||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||1/11|ENST00000672027.1:c.-232+2599del|||||||rs199621591||-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||1/10|ENST00000672097.1:c.-21+2599del|||||||rs199621591||-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||1/5|ENST00000672606.1:c.-21+2599del|||||||rs199621591||-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||1/9|ENST00000672761.1:c.-21+2599del|||||||rs199621591||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||1/10|ENST00000673032.1:c.-137-1210del|||||||rs199621591||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681960|protein_coding_CDS_not_defined||||||||||rs199621591|1307|-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000681963|protein_coding||||||||||rs199621591|1298|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000507760||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682184|protein_coding||||||||||rs199621591|1270|-1||HGNC|HGNC:719|||ENSP00000507043||A0A804HIF5.12|UPI001B8945A1|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682364|protein_coding||||||||||rs199621591|1262|-1||HGNC|HGNC:719|||ENSP00000507604||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000682745|protein_coding_CDS_not_defined||||||||||rs199621591|1262|-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683071|protein_coding_CDS_not_defined||||||||||rs199621591|1293|-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683290|protein_coding||||||||||rs199621591|1262|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000508156||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683677|protein_coding||||||||||rs199621591|1262|-1||HGNC|HGNC:719|||ENSP00000506786||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683854|retained_intron||||||||||rs199621591|1262|-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000683958|protein_coding||||||||||rs199621591|944|-1||HGNC|HGNC:719|||ENSP00000507756||A0A804HK35.12|UPI001B894F6F|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684045|protein_coding_CDS_not_defined||||||||||rs199621591|1307|-1||HGNC|HGNC:719|||||||||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|intron_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||1/9|ENST00000684117.1:c.-69+2599del|||||||rs199621591||-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684364|protein_coding||||||||||rs199621591|1262|-1||HGNC|HGNC:719|||ENSP00000507304||A0A804HJ07.12|UPI001B891BF6|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||1/9|ENST00000684687.1:c.-69+2599del|||||||rs199621591||-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684738|protein_coding||||||||||rs199621591|1287|-1||HGNC|HGNC:719|||ENSP00000507481||A0A804HJF6.12|UPI000387D9C5|||Ensembl||T|T||1||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_000047.3|protein_coding||||||||||rs199621591|1209|-1||EntrezGene|HGNC:719|||NP_000038.2||||||RefSeq||T|T||||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282628.2|protein_coding||||||||||rs199621591|1209|-1||EntrezGene|HGNC:719|||NP_001269557.1||||||RefSeq||T|T||||chrX:g.2965550del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||1/9|NM_001282631.2:c.-21+2599del|||||||rs199621591||-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||T|T||||chrX:g.2965550del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||1/10|NM_001369079.1:c.7+2599del|||||||rs199621591||-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||T|T||||chrX:g.2965550del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||1/11|NM_001369080.1:c.-232+2599del|||||||rs199621591||-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||T|T||||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274519.5|protein_coding||||||||||rs199621591|1209|-1||EntrezGene|HGNC:719|||XP_005274576.1||||||RefSeq||T|T||||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_005274521.5|protein_coding||||||||||rs199621591|1209|-1||EntrezGene|HGNC:719|||XP_005274578.1||||||RefSeq||T|T||||chrX:g.2965550del|||||||||||||,-|upstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_011545521.2|protein_coding||||||||||rs199621591|1209|-1||EntrezGene|HGNC:719|||XP_011543823.1||||||RefSeq||T|T||||chrX:g.2965550del|||||||||||||,-|intron_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||1/8|XM_047442110.1:c.7+2599del|||||||rs199621591||-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||T|T||||chrX:g.2965550del|||||||||||||;DecipherG2P_allelic_requirement=monoallelic_X_hem;DecipherG2P_confidence_category=definitive;DecipherG2P_disease_name=ARSL-related_chondrodysplasia_punctata;DecipherG2P_disease_ontology=MONDO:0010555;DecipherG2P_gene_disease_pair_entry_date=2015-07-22_16:15:26;DecipherG2P_gene_symbol=ARSL;DecipherG2P_hgnc_id=719;DecipherG2P_mutation_consequence=absent_gene_product;DecipherG2P_pmids=12567415|9409863|7720070;DecipherG2P_variant_consequence=loss_of_function_variant;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000381134,ENST00000438544,ENST00000483425,ENST00000540563,ENST00000545496,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000681960,ENST00000681963,ENST00000682184,ENST00000682364,ENST00000682745,ENST00000683071,ENST00000683290,ENST00000683677,ENST00000683854,ENST00000683958,ENST00000684045,ENST00000684117,ENST00000684364,ENST00000684687,ENST00000684738,NM_000047.3,NM_001282628.2,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_005274519.5,XM_005274521.5,XM_011545521.2,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415,415,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=22373;gnomADv4_1_AC_joint_XX=17019;gnomADv4_1_AC_joint_XY=5354;gnomADv4_1_AF_grpmax_joint=0.358974;gnomADv4_1_AF_joint=0.213363;gnomADv4_1_AF_joint_XX=0.223681;gnomADv4_1_AF_joint_XY=0.186077;gnomADv4_1_AN_grpmax_joint=195;gnomADv4_1_AN_joint=104859;gnomADv4_1_AN_joint_XX=76086;gnomADv4_1_AN_joint_XY=28773;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=2384;gnomADv4_1_nhomalt_joint_XX=2384;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2969783 chrX_2969783_T_C T C 50 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=50;CADD_PHREDscore=2.423;CADD_Rawscore=0.215233;CSQ=C|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000540563|protein_coding||||||||||rs182444906|1482|-1||HGNC|HGNC:719|2|CCDS14122.1|ENSP00000438198|P51690.187|F5H324.85|UPI000049E10C|||Ensembl||T|T||1||chrX:g.2969783T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672027|protein_coding||||||||||rs182444906|1538|-1||HGNC|HGNC:719||CCDS75948.1|ENSP00000500220||F5GYY5.90|UPI00020654FE|||Ensembl||T|T||1||chrX:g.2969783T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672097|protein_coding||||||||||rs182444906|1308|-1||HGNC|HGNC:719|||ENSP00000500727||A0A5F9ZHZ5.19|UPI00123456D1|||Ensembl||T|T||1||chrX:g.2969783T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672606|protein_coding||||||||||rs182444906|1525|-1|cds_end_NF|HGNC|HGNC:719|||ENSP00000500638||A0A5F9ZHU0.20|UPI001234A2EB|||Ensembl||T|T||1||chrX:g.2969783T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000672761|protein_coding||||||||||rs182444906|1538|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500108||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2969783T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000673032|protein_coding||||||||||rs182444906|1507|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000500778||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2969783T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684117|protein_coding||||||||||rs182444906|1538|-1||HGNC|HGNC:719||CCDS75949.2|ENSP00000508337||A0A5F9ZHX8.19|UPI000387C4AB|||Ensembl||T|T||1||chrX:g.2969783T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSL|ENSG00000157399|Transcript|ENST00000684687|nonsense_mediated_decay||||||||||rs182444906|1538|-1||HGNC|HGNC:719|||ENSP00000507266||A0A804HIX6.12|UPI001B898B3F|||Ensembl||T|T||1||chrX:g.2969783T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001282631.2|protein_coding||||||||||rs182444906|1538|-1||EntrezGene|HGNC:719|||NP_001269560.2||||||RefSeq||T|T||||chrX:g.2969783T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369079.1|protein_coding||||||||||rs182444906|1538|-1||EntrezGene|HGNC:719|||NP_001356008.1||||||RefSeq||T|T||||chrX:g.2969783T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSL|415|Transcript|NM_001369080.1|protein_coding||||||||||rs182444906|1538|-1||EntrezGene|HGNC:719|||NP_001356009.1||||||RefSeq||T|T||||chrX:g.2969783T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|ARSL|415|Transcript|XM_047442110.1|protein_coding||||||||||rs182444906|1538|-1||EntrezGene|HGNC:719|||XP_047298066.1||||||RefSeq||T|T||||chrX:g.2969783T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000540563,ENST00000672027,ENST00000672097,ENST00000672606,ENST00000672761,ENST00000673032,ENST00000684117,ENST00000684687,NM_001282631.2,NM_001369079.1,NM_001369080.1,XM_047442110.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,ENSG00000157399,415,415,415,415;VEP_SYMBOL=ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL,ARSL;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=2252;gnomADv4_1_AC_joint_XX=1680;gnomADv4_1_AC_joint_XY=572;gnomADv4_1_AF_grpmax_joint=0.0372093;gnomADv4_1_AF_joint=0.0204343;gnomADv4_1_AF_joint_XX=0.0216144;gnomADv4_1_AF_joint_XY=0.0176103;gnomADv4_1_AN_grpmax_joint=215;gnomADv4_1_AN_joint=110207;gnomADv4_1_AN_joint_XX=77726;gnomADv4_1_AN_joint_XY=32481;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=32;gnomADv4_1_nhomalt_joint_XX=32;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2988813 chrX_2988813_CA_C CA C 31 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.666667;AF_XX=0.5;AF_XY=1.0;AN=3;AN_XX=2;AN_XY=1;AQ=31;CADDIndel_PHREDscore=0.272;CADDIndel_Rawscore=-0.346849;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs35274529|||||||||||||||||||||chrX:g.2988833del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=28605;gnomADv4_1_AC_joint_XX=26916;gnomADv4_1_AC_joint_XY=1689;gnomADv4_1_AF_grpmax_joint=0.780933;gnomADv4_1_AF_joint=0.62835;gnomADv4_1_AF_joint_XX=0.628908;gnomADv4_1_AF_joint_XY=0.619589;gnomADv4_1_AN_grpmax_joint=1479;gnomADv4_1_AN_joint=45524;gnomADv4_1_AN_joint_XX=42798;gnomADv4_1_AN_joint_XY=2726;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=6757;gnomADv4_1_nhomalt_joint_XX=6757;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2996505 chrX_2996505_CCTTT_C;chrX_2996505_C_CCTTT;chrX_2996505_C_CCTTTCTTT CCTTT C 35 . AC=2;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=1;AF=0.5;AF_XX=0.5;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=35;CADDIndel_PHREDscore=1.287;CADDIndel_Rawscore=0.047893;CSQ=-|intergenic_variant|MODIFIER|||||||||||||||rs199570206|||||||||||||||||||||chrX:g.2996556_2996559del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=3124;gnomADv4_1_AC_joint_XX=2787;gnomADv4_1_AC_joint_XY=337;gnomADv4_1_AF_grpmax_joint=0.0486726;gnomADv4_1_AF_joint=0.0441792;gnomADv4_1_AF_joint_XX=0.0468183;gnomADv4_1_AF_joint_XY=0.0301323;gnomADv4_1_AN_grpmax_joint=1130;gnomADv4_1_AN_joint=70712;gnomADv4_1_AN_joint_XX=59528;gnomADv4_1_AN_joint_XY=11184;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=74;gnomADv4_1_nhomalt_joint_XX=74;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2996505 chrX_2996505_CCTTT_C;chrX_2996505_C_CCTTT;chrX_2996505_C_CCTTTCTTT C CCTTT 35 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=0.25;AF_XX=0.0;AF_XY=0.5;AN=4;AN_XX=2;AN_XY=2;AQ=26;CADDIndel_PHREDscore=1.369;CADDIndel_Rawscore=0.064037;CSQ=CTTT|intergenic_variant|MODIFIER|||||||||||||||rs199570206|||||||||||||||||||||chrX:g.2996556_2996559dup|||||||||||||;TYPE=INDEL;VEP_Allele=CTTT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=15714;gnomADv4_1_AC_joint_XX=13767;gnomADv4_1_AC_joint_XY=1947;gnomADv4_1_AF_grpmax_joint=0.25;gnomADv4_1_AF_joint=0.222613;gnomADv4_1_AF_joint_XX=0.231666;gnomADv4_1_AF_joint_XY=0.174415;gnomADv4_1_AN_grpmax_joint=160;gnomADv4_1_AN_joint=70589;gnomADv4_1_AN_joint_XX=59426;gnomADv4_1_AN_joint_XY=11163;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=1892;gnomADv4_1_nhomalt_joint_XX=1892;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrX 2996505 chrX_2996505_CCTTT_C;chrX_2996505_C_CCTTT;chrX_2996505_C_CCTTTCTTT C CCTTTCTTT 35 . AC=1;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=1;AC_Het_XX=1;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=1;AC_XY=0;AF=0.25;AF_XX=0.5;AF_XY=0.0;AN=4;AN_XX=2;AN_XY=2;AQ=35;CADDIndel_PHREDscore=1.277;CADDIndel_Rawscore=0.045909;CSQ=CTTTCTTT|intergenic_variant|MODIFIER|||||||||||||||rs199570206|||||||||||||||||||||chrX:g.2996552_2996559dup|||||||||||||;TYPE=INDEL;VEP_Allele=CTTTCTTT;VEP_Feature=.;VEP_Feature_type=.;VEP_Gene=.;VEP_SYMBOL=.;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=19026;gnomADv4_1_AC_joint_XX=16562;gnomADv4_1_AC_joint_XY=2464;gnomADv4_1_AF_grpmax_joint=0.314128;gnomADv4_1_AF_joint=0.269559;gnomADv4_1_AF_joint_XX=0.27869;gnomADv4_1_AF_joint_XY=0.220907;gnomADv4_1_AN_grpmax_joint=1996;gnomADv4_1_AN_joint=70582;gnomADv4_1_AN_joint_XX=59428;gnomADv4_1_AN_joint_XY=11154;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=2787;gnomADv4_1_nhomalt_joint_XX=2787;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=1.0;numhet_XX=1.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2781761 chrY_2781761_CA_C CA C 27 . AC=1;AC_Hemi=1;AC_Hemi_XX=0;AC_Hemi_XY=1;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=1;AF=1.0;AF_XX=.;AF_XY=1.0;AN=1;AN_XX=0;AN_XY=1;AQ=27;CADDIndel_PHREDscore=1.902;CADDIndel_Rawscore=0.150632;CSQ=-|upstream_gene_variant|MODIFIER|RNU6-1334P|ENSG00000251841|Transcript|ENST00000516032|snRNA||||||||||rs144713176|2987|1||HGNC|HGNC:48297|||||||||Ensembl||A|A||||chrY:g.2781785del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000679518|lncRNA||3/6|ENST00000679518.1:n.106+7046del|||||||rs144713176||1||HGNC|HGNC:34022|||||||||Ensembl||A|A|||23|chrY:g.2781785del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000679825|lncRNA||3/3|ENST00000679825.1:n.107-5210del|||||||rs144713176||1||HGNC|HGNC:34022|||||||||Ensembl||A|A|||23|chrY:g.2781785del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000680285|lncRNA||3/3|ENST00000680285.1:n.319+7046del|||||||rs144713176||1||HGNC|HGNC:34022|||||||||Ensembl||A|A|||23|chrY:g.2781785del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000680845|lncRNA||3/4|ENST00000680845.1:n.107-5210del|||||||rs144713176||1||HGNC|HGNC:34022|||||||||Ensembl||A|A|||23|chrY:g.2781785del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000681787|lncRNA||3/7|ENST00000681787.1:n.106+7046del|||||||rs144713176||1||HGNC|HGNC:34022|||||||||Ensembl||A|A|||23|chrY:g.2781785del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000681940|lncRNA||3/4|ENST00000681940.1:n.106+7046del|||||||rs144713176||1||HGNC|HGNC:34022|||||||||Ensembl||A|A|||23|chrY:g.2781785del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-;VEP_Feature=ENST00000516032,ENST00000679518,ENST00000679825,ENST00000680285,ENST00000680845,ENST00000681787,ENST00000681940;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000251841,ENSG00000290840,ENSG00000290840,ENSG00000290840,ENSG00000290840,ENSG00000290840,ENSG00000290840;VEP_SYMBOL=RNU6-1334P,XGY2,XGY2,XGY2,XGY2,XGY2,XGY2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.;gnomADv4_1_AC_joint=362;gnomADv4_1_AC_joint_XY=362;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.75891;gnomADv4_1_AF_joint_XY=0.75891;gnomADv4_1_AN_grpmax_joint=15;gnomADv4_1_AN_joint=477;gnomADv4_1_AN_joint_XY=477;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=sas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=1.0;numhemi_XX=0.0;numhemi_XY=1.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2793653 chrY_2793653_A_G A G 54 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=54;CADD_PHREDscore=1.455;CADD_Rawscore=0.080176;CSQ=G|downstream_gene_variant|MODIFIER|RNASEH2CP1|ENSG00000237659|Transcript|ENST00000454281|transcribed_processed_pseudogene||||||||||rs2253109|3325|1||HGNC|HGNC:24117|||||||||Ensembl||A|A||||chrY:g.2793653A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000679518|lncRNA||3/6|ENST00000679518.1:n.106+18914A>G|||||||rs2253109||1||HGNC|HGNC:34022|||||||||Ensembl||A|A||||chrY:g.2793653A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000680285|lncRNA||||||||||rs2253109|2732|1||HGNC|HGNC:34022|||||||||Ensembl||A|A||||chrY:g.2793653A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000681787|lncRNA||3/7|ENST00000681787.1:n.106+18914A>G|||||||rs2253109||1||HGNC|HGNC:34022|||||||||Ensembl||A|A||||chrY:g.2793653A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000681940|lncRNA||3/4|ENST00000681940.1:n.106+18914A>G|||||||rs2253109||1||HGNC|HGNC:34022|||||||||Ensembl||A|A||||chrY:g.2793653A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000819779|lncRNA||||||||||rs2253109|2891|1||HGNC|HGNC:34022|||||||||Ensembl||A|A||||chrY:g.2793653A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G,G;VEP_Feature=ENST00000454281,ENST00000679518,ENST00000680285,ENST00000681787,ENST00000681940,ENST00000819779;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000237659,ENSG00000290840,ENSG00000290840,ENSG00000290840,ENSG00000290840,ENSG00000290840;VEP_SYMBOL=RNASEH2CP1,XGY2,XGY2,XGY2,XGY2,XGY2;VEP_existing_InFrame_oORFs=.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.;gnomADv4_1_AC_joint=32050;gnomADv4_1_AC_joint_XY=32050;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=0.999906;gnomADv4_1_AF_joint_XY=0.999906;gnomADv4_1_AN_grpmax_joint=13174;gnomADv4_1_AN_joint=32053;gnomADv4_1_AN_joint_XY=32053;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2800415 chrY_2800415_T_C T C 53 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=53;CADD_PHREDscore=1.412;CADD_Rawscore=0.07233;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000679518|lncRNA||3/6|ENST00000679518.1:n.106+25676T>C|||||||rs2058276||1||HGNC|HGNC:34022|||||||||Ensembl||T|T||||chrY:g.2800415T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000681787|lncRNA||3/7|ENST00000681787.1:n.106+25676T>C|||||||rs2058276||1||HGNC|HGNC:34022|||||||||Ensembl||T|T||||chrY:g.2800415T>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000681940|lncRNA||3/4|ENST00000681940.1:n.106+25676T>C|||||||rs2058276||1||HGNC|HGNC:34022|||||||||Ensembl||T|T||||chrY:g.2800415T>C|||||||||||||;TYPE=SNP;VEP_Allele=C,C,C;VEP_Feature=ENST00000679518,ENST00000681787,ENST00000681940;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290840,ENSG00000290840,ENSG00000290840;VEP_SYMBOL=XGY2,XGY2,XGY2;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=21024;gnomADv4_1_AC_joint_XY=21024;gnomADv4_1_AF_grpmax_joint=0.999164;gnomADv4_1_AF_joint=0.658832;gnomADv4_1_AF_joint_XY=0.658832;gnomADv4_1_AN_grpmax_joint=1196;gnomADv4_1_AN_joint=31911;gnomADv4_1_AN_joint_XY=31911;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2804694 chrY_2804694_AT_A AT A 53 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=53;CADDIndel_PHREDscore=1.04;CADDIndel_Rawscore=-0.007579;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000679518|lncRNA||3/6|ENST00000679518.1:n.106+29969del|||||||rs370362767||1||HGNC|HGNC:34022|||||||||Ensembl||T|T|||13|chrY:g.2804708del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000681787|lncRNA||3/7|ENST00000681787.1:n.106+29969del|||||||rs370362767||1||HGNC|HGNC:34022|||||||||Ensembl||T|T|||13|chrY:g.2804708del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000681940|lncRNA||3/4|ENST00000681940.1:n.106+29969del|||||||rs370362767||1||HGNC|HGNC:34022|||||||||Ensembl||T|T|||13|chrY:g.2804708del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-;VEP_Feature=ENST00000679518,ENST00000681787,ENST00000681940;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290840,ENSG00000290840,ENSG00000290840;VEP_SYMBOL=XGY2,XGY2,XGY2;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=12809;gnomADv4_1_AC_joint_XY=12809;gnomADv4_1_AF_grpmax_joint=0.996301;gnomADv4_1_AF_joint=0.620441;gnomADv4_1_AF_joint_XY=0.620441;gnomADv4_1_AN_grpmax_joint=811;gnomADv4_1_AN_joint=20645;gnomADv4_1_AN_joint_XY=20645;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2807416 chrY_2807416_A_T A T 56 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=56;CADD_PHREDscore=5.786;CADD_Rawscore=0.531722;CSQ=T|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000679518|lncRNA||3/6|ENST00000679518.1:n.106+32677A>T|||||||rs370507216||1||HGNC|HGNC:34022|||||||||Ensembl||A|A||||chrY:g.2807416A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000681787|lncRNA||3/7|ENST00000681787.1:n.106+32677A>T|||||||rs370507216||1||HGNC|HGNC:34022|||||||||Ensembl||A|A||||chrY:g.2807416A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000681940|lncRNA||3/4|ENST00000681940.1:n.106+32677A>T|||||||rs370507216||1||HGNC|HGNC:34022|||||||||Ensembl||A|A||||chrY:g.2807416A>T|||||||||||||;TYPE=SNP;VEP_Allele=T,T,T;VEP_Feature=ENST00000679518,ENST00000681787,ENST00000681940;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290840,ENSG00000290840,ENSG00000290840;VEP_SYMBOL=XGY2,XGY2,XGY2;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=1655;gnomADv4_1_AC_joint_XY=1655;gnomADv4_1_AF_grpmax_joint=0.378378;gnomADv4_1_AF_joint=0.0495539;gnomADv4_1_AF_joint_XY=0.0495539;gnomADv4_1_AN_grpmax_joint=74;gnomADv4_1_AN_joint=33398;gnomADv4_1_AN_joint_XY=33398;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2811374 chrY_2811374_G_GC G GC 52 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=52;CADDIndel_PHREDscore=2.162;CADDIndel_Rawscore=0.184642;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000679518|lncRNA||3/6|ENST00000679518.1:n.107-30111dup|||||||rs78094090||1||HGNC|HGNC:34022|||||||||Ensembl||||||1|chrY:g.2811375dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000681787|lncRNA||3/7|ENST00000681787.1:n.107-29653dup|||||||rs78094090||1||HGNC|HGNC:34022|||||||||Ensembl||||||1|chrY:g.2811375dup|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000681940|lncRNA||3/4|ENST00000681940.1:n.107-34271dup|||||||rs78094090||1||HGNC|HGNC:34022|||||||||Ensembl||||||1|chrY:g.2811375dup|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000300312|Transcript|ENST00000770736|lncRNA||||||||||rs78094090|2956|1||||||||||||Ensembl|||||||chrY:g.2811375dup|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000300312|Transcript|ENST00000770737|lncRNA||||||||||rs78094090|2956|1||||||||||||Ensembl|||||||chrY:g.2811375dup|||||||||||||;TYPE=INDEL;VEP_Allele=C,C,C,C,C;VEP_Feature=ENST00000679518,ENST00000681787,ENST00000681940,ENST00000770736,ENST00000770737;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290840,ENSG00000290840,ENSG00000290840,ENSG00000300312,ENSG00000300312;VEP_SYMBOL=XGY2,XGY2,XGY2,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=33033;gnomADv4_1_AC_joint_XY=33033;gnomADv4_1_AF_grpmax_joint=1.0;gnomADv4_1_AF_joint=1.0;gnomADv4_1_AF_joint_XY=1.0;gnomADv4_1_AN_grpmax_joint=13429;gnomADv4_1_AN_joint=33033;gnomADv4_1_AN_joint_XY=33033;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=nfe;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2818514 chrY_2818514_A_G A G 46 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=46;CADD_PHREDscore=1.009;CADD_Rawscore=-0.015605;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000679518|lncRNA||3/6|ENST00000679518.1:n.107-22972A>G|||||||rs113881366||1||HGNC|HGNC:34022|||||||||Ensembl||A|A||||chrY:g.2818514A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000681787|lncRNA||3/7|ENST00000681787.1:n.107-22514A>G|||||||rs113881366||1||HGNC|HGNC:34022|||||||||Ensembl||A|A||||chrY:g.2818514A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000681940|lncRNA||3/4|ENST00000681940.1:n.107-27132A>G|||||||rs113881366||1||HGNC|HGNC:34022|||||||||Ensembl||A|A||||chrY:g.2818514A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300312|Transcript|ENST00000770736|lncRNA||1/2|ENST00000770736.1:n.36+4148A>G|||||||rs113881366||1||||||||||||Ensembl||A|A||||chrY:g.2818514A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300312|Transcript|ENST00000770737|lncRNA||1/1|ENST00000770737.1:n.36+4148A>G|||||||rs113881366||1||||||||||||Ensembl||A|A||||chrY:g.2818514A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000679518,ENST00000681787,ENST00000681940,ENST00000770736,ENST00000770737;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290840,ENSG00000290840,ENSG00000290840,ENSG00000300312,ENSG00000300312;VEP_SYMBOL=XGY2,XGY2,XGY2,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=16528;gnomADv4_1_AC_joint_XY=16528;gnomADv4_1_AF_grpmax_joint=0.999023;gnomADv4_1_AF_joint=0.62098;gnomADv4_1_AF_joint_XY=0.62098;gnomADv4_1_AN_grpmax_joint=1024;gnomADv4_1_AN_joint=26616;gnomADv4_1_AN_joint_XY=26616;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2818686 chrY_2818686_A_G A G 51 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=51;CADD_PHREDscore=4.903;CADD_Rawscore=0.44683;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000679518|lncRNA||3/6|ENST00000679518.1:n.107-22800A>G|||||||rs67960559||1||HGNC|HGNC:34022|||||||||Ensembl||A|A||||chrY:g.2818686A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000681787|lncRNA||3/7|ENST00000681787.1:n.107-22342A>G|||||||rs67960559||1||HGNC|HGNC:34022|||||||||Ensembl||A|A||||chrY:g.2818686A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|XGY2|ENSG00000290840|Transcript|ENST00000681940|lncRNA||3/4|ENST00000681940.1:n.107-26960A>G|||||||rs67960559||1||HGNC|HGNC:34022|||||||||Ensembl||A|A||||chrY:g.2818686A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300312|Transcript|ENST00000770736|lncRNA||1/2|ENST00000770736.1:n.36+4320A>G|||||||rs67960559||1||||||||||||Ensembl||A|A||||chrY:g.2818686A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000300312|Transcript|ENST00000770737|lncRNA||1/1|ENST00000770737.1:n.36+4320A>G|||||||rs67960559||1||||||||||||Ensembl||A|A||||chrY:g.2818686A>G|||||||||||||;TYPE=SNP;VEP_Allele=G,G,G,G,G;VEP_Feature=ENST00000679518,ENST00000681787,ENST00000681940,ENST00000770736,ENST00000770737;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000290840,ENSG00000290840,ENSG00000290840,ENSG00000300312,ENSG00000300312;VEP_SYMBOL=XGY2,XGY2,XGY2,.,.;VEP_existing_InFrame_oORFs=.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.;gnomADv4_1_AC_joint=17653;gnomADv4_1_AC_joint_XY=17653;gnomADv4_1_AF_grpmax_joint=0.983179;gnomADv4_1_AF_joint=0.562574;gnomADv4_1_AF_joint_XY=0.562574;gnomADv4_1_AN_grpmax_joint=1189;gnomADv4_1_AN_joint=31379;gnomADv4_1_AN_joint_XY=31379;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2873060 chrY_2873060_CT_C CT C 46 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=46;CADDIndel_PHREDscore=0.901;CADDIndel_Rawscore=-0.044641;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RPS4Y1|ENSG00000129824|Transcript|ENST00000515575|protein_coding_CDS_not_defined||1/2|ENST00000515575.1:n.42+18308del|||||||rs200897198||1||HGNC|HGNC:10425|3||||||||Ensembl||T|T|||18|chrY:g.2873079del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000515575;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000129824;VEP_SYMBOL=RPS4Y1;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=5936;gnomADv4_1_AC_joint_XY=5936;gnomADv4_1_AF_grpmax_joint=0.988814;gnomADv4_1_AF_joint=0.405908;gnomADv4_1_AF_joint_XY=0.405908;gnomADv4_1_AN_grpmax_joint=447;gnomADv4_1_AN_joint=14624;gnomADv4_1_AN_joint_XY=14624;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2879745 chrY_2879745_A_AAT A AAT 42 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=42;CADDIndel_PHREDscore=0.791;CADDIndel_Rawscore=-0.078045;CSQ=AT|downstream_gene_variant|MODIFIER|HSFY3P|ENSG00000227289|Transcript|ENST00000444242|transcribed_unprocessed_pseudogene||||||||||rs201607485|1937|-1||HGNC|HGNC:37119|||||||||Ensembl|||||||chrY:g.2879761_2879762dup|||||||||||||,AT|intron_variant&non_coding_transcript_variant|MODIFIER|RPS4Y1|ENSG00000129824|Transcript|ENST00000515575|protein_coding_CDS_not_defined||1/2|ENST00000515575.1:n.42+24990_42+24991dup|||||||rs201607485||1||HGNC|HGNC:10425|3||||||||Ensembl||||||17|chrY:g.2879761_2879762dup|||||||||||||,AT|downstream_gene_variant|MODIFIER||ENSG00000290841|Transcript|ENST00000652562|lncRNA||||||||||rs201607485|3364|-1||||||||||||Ensembl|||||||chrY:g.2879761_2879762dup|||||||||||||;TYPE=INDEL;VEP_Allele=AT,AT,AT;VEP_Feature=ENST00000444242,ENST00000515575,ENST00000652562;VEP_Feature_type=Transcript,Transcript,Transcript;VEP_Gene=ENSG00000227289,ENSG00000129824,ENSG00000290841;VEP_SYMBOL=HSFY3P,RPS4Y1,.;VEP_existing_InFrame_oORFs=.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.;VEP_existing_uORFs=.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.;gnomADv4_1_AC_joint=8005;gnomADv4_1_AC_joint_XY=8005;gnomADv4_1_AF_grpmax_joint=0.920635;gnomADv4_1_AF_joint=0.328222;gnomADv4_1_AF_joint_XY=0.328222;gnomADv4_1_AN_grpmax_joint=945;gnomADv4_1_AN_joint=24389;gnomADv4_1_AN_joint_XY=24389;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2915693 chrY_2915693_CA_C CA C 47 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=47;CADDIndel_PHREDscore=1.018;CADDIndel_Rawscore=-0.01321;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RPS4Y1|ENSG00000129824|Transcript|ENST00000515575|protein_coding_CDS_not_defined||1/2|ENST00000515575.1:n.43-13156del|||||||rs556635852||1||HGNC|HGNC:10425|3||||||||Ensembl||A|A|||14|chrY:g.2915708del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000515575;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000129824;VEP_SYMBOL=RPS4Y1;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=2656;gnomADv4_1_AC_joint_XY=2656;gnomADv4_1_AF_grpmax_joint=0.340909;gnomADv4_1_AF_joint=0.235816;gnomADv4_1_AF_joint_XY=0.235816;gnomADv4_1_AN_grpmax_joint=44;gnomADv4_1_AN_joint=11263;gnomADv4_1_AN_joint_XY=11263;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2920654 chrY_2920654_CCTT_C CCTT C 44 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=44;CADDIndel_PHREDscore=1.75;CADDIndel_Rawscore=0.128678;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RPS4Y1|ENSG00000129824|Transcript|ENST00000515575|protein_coding_CDS_not_defined||1/2|ENST00000515575.1:n.43-8206_43-8204del|||||||rs776770047||1||HGNC|HGNC:10425|3||||||||Ensembl||CTT|CTT|||3|chrY:g.2920658_2920660del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000515575;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000129824;VEP_SYMBOL=RPS4Y1;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=435;gnomADv4_1_AC_joint_XY=435;gnomADv4_1_AF_grpmax_joint=0.863636;gnomADv4_1_AF_joint=0.0320962;gnomADv4_1_AF_joint_XY=0.0320962;gnomADv4_1_AN_grpmax_joint=22;gnomADv4_1_AN_joint=13553;gnomADv4_1_AN_joint_XY=13553;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2920664 chrY_2920664_CT_C CT C 46 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=46;CADDIndel_PHREDscore=1.686;CADDIndel_Rawscore=0.118843;CSQ=-|intron_variant&non_coding_transcript_variant|MODIFIER|RPS4Y1|ENSG00000129824|Transcript|ENST00000515575|protein_coding_CDS_not_defined||1/2|ENST00000515575.1:n.43-8193del|||||||rs200410859||1||HGNC|HGNC:10425|3||||||||Ensembl||T|T|||6|chrY:g.2920671del|||||||||||||;TYPE=INDEL;VEP_Allele=-;VEP_Feature=ENST00000515575;VEP_Feature_type=Transcript;VEP_Gene=ENSG00000129824;VEP_SYMBOL=RPS4Y1;VEP_existing_InFrame_oORFs=.;VEP_existing_OutOfFrame_oORFs=.;VEP_existing_uORFs=.;VEP_five_prime_UTR_variant_annotation=.;VEP_five_prime_UTR_variant_consequence=.;gnomADv4_1_AC_joint=18304;gnomADv4_1_AC_joint_XY=18304;gnomADv4_1_AF_grpmax_joint=0.995777;gnomADv4_1_AF_joint=0.585672;gnomADv4_1_AF_joint_XY=0.585672;gnomADv4_1_AN_grpmax_joint=1184;gnomADv4_1_AN_joint=31253;gnomADv4_1_AN_joint_XY=31253;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2930669 chrY_2930669_AT_A AT A 42 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=42;CADDIndel_PHREDscore=1.564;CADDIndel_Rawscore=0.099072;CSQ=-|upstream_gene_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000155093|protein_coding||||||||||rs1223738591|4711|1||HGNC|HGNC:12870|1|CCDS14774.1|ENSP00000155093|P08048.221||UPI000006E69A|P08048-1||Ensembl||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000383052|protein_coding||||||||||rs1223738591|4611|1||HGNC|HGNC:12870|5|CCDS14774.1|ENSP00000372525|P08048.221||UPI000006E69A|P08048-1||Ensembl||T|T||||chrY:g.2930689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|NAP1L1P2|ENSG00000229163|Transcript|ENST00000414182|processed_pseudogene||1/2|ENST00000414182.2:n.51-304del|||||||rs1223738591||-1||HGNC|HGNC:38005|||||||||Ensembl||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000443793|protein_coding||||||||||rs1223738591|4835|1|cds_end_NF|HGNC|HGNC:12870|3||ENSP00000388814||C9JQM1.63|UPI000059DC00|||Ensembl||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000449237|protein_coding||||||||||rs1223738591|4981|1||HGNC|HGNC:12870|1|CCDS48201.1|ENSP00000393908|P08048.221||UPI00006E0F28|P08048-3||Ensembl||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000469869|protein_coding_CDS_not_defined||||||||||rs1223738591|4830|1||HGNC|HGNC:12870|3||||||||Ensembl||T|T||||chrY:g.2930689del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|RPS4Y1|ENSG00000129824|Transcript|ENST00000515575|protein_coding_CDS_not_defined||2/2|ENST00000515575.1:n.165-1022del|||||||rs1223738591||1||HGNC|HGNC:10425|3||||||||Ensembl||T|T|||19|chrY:g.2930689del|||||||||||||,-|downstream_gene_variant|MODIFIER||ENSG00000278847|Transcript|ENST00000611750|lncRNA||||||||||rs1223738591|3736|-1||||||||||||Ensembl||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000625061|protein_coding||||||||||rs1223738591|4719|1||HGNC|HGNC:12870|2|CCDS48200.1|ENSP00000485605|P08048.221||UPI00017A7F3B|P08048-2||Ensembl||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|7544|Transcript|NM_001145275.2|protein_coding||||||||||rs1223738591|4711|1||EntrezGene|HGNC:12870|||NP_001138747.1||||||RefSeq||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|7544|Transcript|NM_001145276.2|protein_coding||||||||||rs1223738591|4711|1||EntrezGene|HGNC:12870|||NP_001138748.1||||||RefSeq||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|7544|Transcript|NM_001369702.1|protein_coding||||||||||rs1223738591|4711|1||EntrezGene|HGNC:12870|||NP_001356631.1||||||RefSeq||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|7544|Transcript|NM_001369703.1|protein_coding||||||||||rs1223738591|4711|1||EntrezGene|HGNC:12870|||NP_001356632.1||||||RefSeq||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|7544|Transcript|NM_001369704.1|protein_coding||||||||||rs1223738591|4711|1||EntrezGene|HGNC:12870|||NP_001356633.1||||||RefSeq||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|7544|Transcript|NM_001369705.1|protein_coding||||||||||rs1223738591|4711|1||EntrezGene|HGNC:12870|||NP_001356634.1||||||RefSeq||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|7544|Transcript|NM_001369706.1|protein_coding||||||||||rs1223738591|4711|1||EntrezGene|HGNC:12870|||NP_001356635.1||||||RefSeq||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|7544|Transcript|NM_001369707.1|protein_coding||||||||||rs1223738591|4711|1||EntrezGene|HGNC:12870|||NP_001356636.1||||||RefSeq||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|7544|Transcript|NM_001369708.1|protein_coding||||||||||rs1223738591|4711|1||EntrezGene|HGNC:12870|||NP_001356637.1||||||RefSeq||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|7544|Transcript|NM_001369709.1|protein_coding||||||||||rs1223738591|4711|1||EntrezGene|HGNC:12870|||NP_001356638.1||||||RefSeq||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|7544|Transcript|NM_001369710.1|protein_coding||||||||||rs1223738591|4711|1||EntrezGene|HGNC:12870|||NP_001356639.1||||||RefSeq||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|7544|Transcript|NM_003411.4|protein_coding||||||||||rs1223738591|4711|1||EntrezGene|HGNC:12870|||NP_003402.2||||||RefSeq||T|T||||chrY:g.2930689del|||||||||||||,-|upstream_gene_variant|MODIFIER|ZFY|7544|Transcript|XM_017030075.2|protein_coding||||||||||rs1223738591|4711|1||EntrezGene|HGNC:12870|||XP_016885564.1||||||RefSeq||T|T||||chrY:g.2930689del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000155093,ENST00000383052,ENST00000414182,ENST00000443793,ENST00000449237,ENST00000469869,ENST00000515575,ENST00000611750,ENST00000625061,NM_001145275.2,NM_001145276.2,NM_001369702.1,NM_001369703.1,NM_001369704.1,NM_001369705.1,NM_001369706.1,NM_001369707.1,NM_001369708.1,NM_001369709.1,NM_001369710.1,NM_003411.4,XM_017030075.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000067646,ENSG00000067646,ENSG00000229163,ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000129824,ENSG00000278847,ENSG00000067646,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544;VEP_SYMBOL=ZFY,ZFY,NAP1L1P2,ZFY,ZFY,ZFY,RPS4Y1,.,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=5059;gnomADv4_1_AC_joint_XY=5059;gnomADv4_1_AF_grpmax_joint=0.947368;gnomADv4_1_AF_joint=0.349161;gnomADv4_1_AF_joint_XY=0.349161;gnomADv4_1_AN_grpmax_joint=19;gnomADv4_1_AN_joint=14489;gnomADv4_1_AN_joint_XY=14489;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2935676 chrY_2935676_T_C T C 55 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=55;CADD_PHREDscore=5.819;CADD_Rawscore=0.535014;CSQ=C|5_prime_UTR_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000155093|protein_coding|1/8||ENST00000155093.8:c.-122T>C||296|||||rs1270119||1||HGNC|HGNC:12870|1|CCDS14774.1|ENSP00000155093|P08048.221||UPI000006E69A|P08048-1||Ensembl||T|T||||chrY:g.2935676T>C|||||||||0|1|1||,C|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000383052|protein_coding||1/7|ENST00000383052.5:c.-29+230T>C|||||||rs1270119||1||HGNC|HGNC:12870|5|CCDS14774.1|ENSP00000372525|P08048.221||UPI000006E69A|P08048-1||Ensembl||T|T||||chrY:g.2935676T>C|||||||||||||,C|upstream_gene_variant|MODIFIER|NAP1L1P2|ENSG00000229163|Transcript|ENST00000414182|processed_pseudogene||||||||||rs1270119|4556|-1||HGNC|HGNC:38005|||||||||Ensembl||T|T||||chrY:g.2935676T>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000443793|protein_coding|1/3||ENST00000443793.1:c.-122T>C||172|||||rs1270119||1|cds_end_NF|HGNC|HGNC:12870|3||ENSP00000388814||C9JQM1.63|UPI000059DC00|||Ensembl||T|T||||chrY:g.2935676T>C|||||||||0|1|1||,C|5_prime_UTR_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000449237|protein_coding|1/6||ENST00000449237.4:c.-111T>C||26|||||rs1270119||1||HGNC|HGNC:12870|1|CCDS48201.1|ENSP00000393908|P08048.221||UPI00006E0F28|P08048-3||Ensembl||T|T||||chrY:g.2935676T>C|||||||||0|2|0||,C|non_coding_transcript_exon_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000469869|protein_coding_CDS_not_defined|1/4||ENST00000469869.1:n.177T>C||177|||||rs1270119||1||HGNC|HGNC:12870|3||||||||Ensembl||T|T||||chrY:g.2935676T>C|||||||||||||,C|downstream_gene_variant|MODIFIER|RPS4Y1|ENSG00000129824|Transcript|ENST00000515575|protein_coding_CDS_not_defined||||||||||rs1270119|3676|1||HGNC|HGNC:10425|3||||||||Ensembl||T|T||||chrY:g.2935676T>C|||||||||||||,C|upstream_gene_variant|MODIFIER||ENSG00000278847|Transcript|ENST00000611750|lncRNA||||||||||rs1270119|905|-1||||||||||||Ensembl||T|T||||chrY:g.2935676T>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000625061|protein_coding||1/6|ENST00000625061.3:c.-29+230T>C|||||||rs1270119||1||HGNC|HGNC:12870|2|CCDS48200.1|ENSP00000485605|P08048.221||UPI00017A7F3B|P08048-2||Ensembl||T|T||||chrY:g.2935676T>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|ZFY|7544|Transcript|NM_001145275.2|protein_coding|1/6||NM_001145275.2:c.-111T>C||296|||||rs1270119||1||EntrezGene|HGNC:12870|||NP_001138747.1||||||RefSeq||T|T||||chrY:g.2935676T>C|||||||||0|2|0||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001145276.2|protein_coding||1/6|NM_001145276.2:c.-29+230T>C|||||||rs1270119||1||EntrezGene|HGNC:12870|||NP_001138748.1||||||RefSeq||T|T||||chrY:g.2935676T>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369702.1|protein_coding||1/7|NM_001369702.1:c.-29+230T>C|||||||rs1270119||1||EntrezGene|HGNC:12870|||NP_001356631.1||||||RefSeq||T|T||||chrY:g.2935676T>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|ZFY|7544|Transcript|NM_001369703.1|protein_coding|1/7||NM_001369703.1:c.-111T>C||296|||||rs1270119||1||EntrezGene|HGNC:12870|||NP_001356632.1||||||RefSeq||T|T||||chrY:g.2935676T>C|||||||||0|2|0||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369704.1|protein_coding||1/6|NM_001369704.1:c.-18+230T>C|||||||rs1270119||1||EntrezGene|HGNC:12870|||NP_001356633.1||||||RefSeq||T|T||||chrY:g.2935676T>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369705.1|protein_coding||1/6|NM_001369705.1:c.-18+41T>C|||||||rs1270119||1||EntrezGene|HGNC:12870|||NP_001356634.1||||||RefSeq||T|T||||chrY:g.2935676T>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|ZFY|7544|Transcript|NM_001369706.1|protein_coding|1/7||NM_001369706.1:c.-122T>C||296|||||rs1270119||1||EntrezGene|HGNC:12870|||NP_001356635.1||||||RefSeq||T|T||||chrY:g.2935676T>C|||||||||0|1|1||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369707.1|protein_coding||1/6|NM_001369707.1:c.-29+230T>C|||||||rs1270119||1||EntrezGene|HGNC:12870|||NP_001356636.1||||||RefSeq||T|T||||chrY:g.2935676T>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369708.1|protein_coding||1/5|NM_001369708.1:c.-18+230T>C|||||||rs1270119||1||EntrezGene|HGNC:12870|||NP_001356637.1||||||RefSeq||T|T||||chrY:g.2935676T>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369709.1|protein_coding||1/5|NM_001369709.1:c.-29+230T>C|||||||rs1270119||1||EntrezGene|HGNC:12870|||NP_001356638.1||||||RefSeq||T|T||||chrY:g.2935676T>C|||||||||||||,C|5_prime_UTR_variant|MODIFIER|ZFY|7544|Transcript|NM_001369710.1|protein_coding|1/5||NM_001369710.1:c.-159T>C||296|||||rs1270119||1||EntrezGene|HGNC:12870|||NP_001356639.1||||||RefSeq||T|T||||chrY:g.2935676T>C|||||||||0|1|5||,C|5_prime_UTR_variant|MODIFIER|ZFY|7544|Transcript|NM_003411.4|protein_coding|1/8||NM_003411.4:c.-122T>C||296|||||rs1270119||1||EntrezGene|HGNC:12870|||NP_003402.2||||||RefSeq||T|T||||chrY:g.2935676T>C|||||||||0|1|1||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|XM_017030075.2|protein_coding||1/7|XM_017030075.2:c.-29+41T>C|||||||rs1270119||1||EntrezGene|HGNC:12870|||XP_016885564.1||||||RefSeq||T|T||||chrY:g.2935676T>C|||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSRY_BKPQ|enhancer||||||||||rs1270119|||||||||||||||||||||chrY:g.2935676T>C|||||||||||||;SpliceAI=C|ZFY|0.00|0.00|0.00|0.00|-41|12|29|-41;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000155093,ENST00000383052,ENST00000414182,ENST00000443793,ENST00000449237,ENST00000469869,ENST00000515575,ENST00000611750,ENST00000625061,NM_001145275.2,NM_001145276.2,NM_001369702.1,NM_001369703.1,NM_001369704.1,NM_001369705.1,NM_001369706.1,NM_001369707.1,NM_001369708.1,NM_001369709.1,NM_001369710.1,NM_003411.4,XM_017030075.2,ENSRY_BKPQ;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,RegulatoryFeature;VEP_Gene=ENSG00000067646,ENSG00000067646,ENSG00000229163,ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000129824,ENSG00000278847,ENSG00000067646,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,.;VEP_SYMBOL=ZFY,ZFY,NAP1L1P2,ZFY,ZFY,ZFY,RPS4Y1,.,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,.;VEP_existing_InFrame_oORFs=0,.,.,0,0,.,.,.,.,0,.,.,0,.,.,0,.,.,.,0,0,.,.;VEP_existing_OutOfFrame_oORFs=1,.,.,1,2,.,.,.,.,2,.,.,2,.,.,1,.,.,.,1,1,.,.;VEP_existing_uORFs=1,.,.,1,0,.,.,.,.,0,.,.,0,.,.,1,.,.,.,5,1,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=19804;gnomADv4_1_AC_joint_XY=19804;gnomADv4_1_AF_grpmax_joint=0.983254;gnomADv4_1_AF_joint=0.576049;gnomADv4_1_AF_joint_XY=0.576049;gnomADv4_1_AN_grpmax_joint=1254;gnomADv4_1_AN_joint=34379;gnomADv4_1_AN_joint_XY=34379;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2937989 chrY_2937989_AT_A AT A 46 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=46;CADDIndel_PHREDscore=5.491;CADDIndel_Rawscore=0.502741;CSQ=-|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000155093|protein_coding||1/7|ENST00000155093.8:c.-29+2236del|||||||rs372450449||1||HGNC|HGNC:12870|1|CCDS14774.1|ENSP00000155093|P08048.221||UPI000006E69A|P08048-1||Ensembl||T|T|||15|chrY:g.2938005del|||||||||||||,-|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000383052|protein_coding||1/7|ENST00000383052.5:c.-29+2559del|||||||rs372450449||1||HGNC|HGNC:12870|5|CCDS14774.1|ENSP00000372525|P08048.221||UPI000006E69A|P08048-1||Ensembl||T|T|||15|chrY:g.2938005del|||||||||||||,-|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000443793|protein_coding||1/2|ENST00000443793.1:c.-29+2236del|||||||rs372450449||1|cds_end_NF|HGNC|HGNC:12870|3||ENSP00000388814||C9JQM1.63|UPI000059DC00|||Ensembl||T|T|||15|chrY:g.2938005del|||||||||||||,-|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000449237|protein_coding||1/5|ENST00000449237.4:c.-18+2236del|||||||rs372450449||1||HGNC|HGNC:12870|1|CCDS48201.1|ENSP00000393908|P08048.221||UPI00006E0F28|P08048-3||Ensembl||T|T|||15|chrY:g.2938005del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000469869|protein_coding_CDS_not_defined||1/3|ENST00000469869.1:n.270+2236del|||||||rs372450449||1||HGNC|HGNC:12870|3||||||||Ensembl||T|T|||15|chrY:g.2938005del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000278847|Transcript|ENST00000611750|lncRNA||||||||||rs372450449|3219|-1||||||||||||Ensembl||T|T||||chrY:g.2938005del|||||||||||||,-|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000625061|protein_coding||1/6|ENST00000625061.3:c.-29+2559del|||||||rs372450449||1||HGNC|HGNC:12870|2|CCDS48200.1|ENSP00000485605|P08048.221||UPI00017A7F3B|P08048-2||Ensembl||T|T|||15|chrY:g.2938005del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001145275.2|protein_coding||1/5|NM_001145275.2:c.-18+2236del|||||||rs372450449||1||EntrezGene|HGNC:12870|||NP_001138747.1||||||RefSeq||T|T|||15|chrY:g.2938005del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001145276.2|protein_coding||1/6|NM_001145276.2:c.-29+2559del|||||||rs372450449||1||EntrezGene|HGNC:12870|||NP_001138748.1||||||RefSeq||T|T|||15|chrY:g.2938005del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369702.1|protein_coding||1/7|NM_001369702.1:c.-29+2559del|||||||rs372450449||1||EntrezGene|HGNC:12870|||NP_001356631.1||||||RefSeq||T|T|||15|chrY:g.2938005del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369703.1|protein_coding||1/6|NM_001369703.1:c.-18+2236del|||||||rs372450449||1||EntrezGene|HGNC:12870|||NP_001356632.1||||||RefSeq||T|T|||15|chrY:g.2938005del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369704.1|protein_coding||1/6|NM_001369704.1:c.-18+2559del|||||||rs372450449||1||EntrezGene|HGNC:12870|||NP_001356633.1||||||RefSeq||T|T|||15|chrY:g.2938005del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369705.1|protein_coding||1/6|NM_001369705.1:c.-18+2370del|||||||rs372450449||1||EntrezGene|HGNC:12870|||NP_001356634.1||||||RefSeq||T|T|||15|chrY:g.2938005del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369706.1|protein_coding||1/6|NM_001369706.1:c.-29+2236del|||||||rs372450449||1||EntrezGene|HGNC:12870|||NP_001356635.1||||||RefSeq||T|T|||15|chrY:g.2938005del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369707.1|protein_coding||1/6|NM_001369707.1:c.-29+2559del|||||||rs372450449||1||EntrezGene|HGNC:12870|||NP_001356636.1||||||RefSeq||T|T|||15|chrY:g.2938005del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369708.1|protein_coding||1/5|NM_001369708.1:c.-18+2559del|||||||rs372450449||1||EntrezGene|HGNC:12870|||NP_001356637.1||||||RefSeq||T|T|||15|chrY:g.2938005del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369709.1|protein_coding||1/5|NM_001369709.1:c.-29+2559del|||||||rs372450449||1||EntrezGene|HGNC:12870|||NP_001356638.1||||||RefSeq||T|T|||15|chrY:g.2938005del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369710.1|protein_coding||1/4|NM_001369710.1:c.-66+2236del|||||||rs372450449||1||EntrezGene|HGNC:12870|||NP_001356639.1||||||RefSeq||T|T|||15|chrY:g.2938005del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_003411.4|protein_coding||1/7|NM_003411.4:c.-29+2236del|||||||rs372450449||1||EntrezGene|HGNC:12870|||NP_003402.2||||||RefSeq||T|T|||15|chrY:g.2938005del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|XM_017030075.2|protein_coding||1/7|XM_017030075.2:c.-29+2370del|||||||rs372450449||1||EntrezGene|HGNC:12870|||XP_016885564.1||||||RefSeq||T|T|||15|chrY:g.2938005del|||||||||||||;SpliceAI=A|ZFY|0.00|0.00|0.00|0.00|24|44|20|-15;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000155093,ENST00000383052,ENST00000443793,ENST00000449237,ENST00000469869,ENST00000611750,ENST00000625061,NM_001145275.2,NM_001145276.2,NM_001369702.1,NM_001369703.1,NM_001369704.1,NM_001369705.1,NM_001369706.1,NM_001369707.1,NM_001369708.1,NM_001369709.1,NM_001369710.1,NM_003411.4,XM_017030075.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000278847,ENSG00000067646,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544;VEP_SYMBOL=ZFY,ZFY,ZFY,ZFY,ZFY,.,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=7651;gnomADv4_1_AC_joint_XY=7651;gnomADv4_1_AF_grpmax_joint=0.967585;gnomADv4_1_AF_joint=0.431212;gnomADv4_1_AF_joint_XY=0.431212;gnomADv4_1_AN_grpmax_joint=617;gnomADv4_1_AN_joint=17743;gnomADv4_1_AN_joint_XY=17743;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2938983 chrY_2938983_TTATATATATATATATA_T TTATATATATATATATA T 45 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=45;CADDIndel_PHREDscore=2.315;CADDIndel_Rawscore=0.202884;CSQ=-|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000155093|protein_coding||1/7|ENST00000155093.8:c.-29+3239_-29+3254del|||||||rs765202788||1||HGNC|HGNC:12870|1|CCDS14774.1|ENSP00000155093|P08048.221||UPI000006E69A|P08048-1||Ensembl||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000383052|protein_coding||1/7|ENST00000383052.5:c.-29+3562_-29+3577del|||||||rs765202788||1||HGNC|HGNC:12870|5|CCDS14774.1|ENSP00000372525|P08048.221||UPI000006E69A|P08048-1||Ensembl||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000443793|protein_coding||1/2|ENST00000443793.1:c.-29+3239_-29+3254del|||||||rs765202788||1|cds_end_NF|HGNC|HGNC:12870|3||ENSP00000388814||C9JQM1.63|UPI000059DC00|||Ensembl||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000449237|protein_coding||1/5|ENST00000449237.4:c.-18+3239_-18+3254del|||||||rs765202788||1||HGNC|HGNC:12870|1|CCDS48201.1|ENSP00000393908|P08048.221||UPI00006E0F28|P08048-3||Ensembl||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000469869|protein_coding_CDS_not_defined||1/3|ENST00000469869.1:n.270+3239_270+3254del|||||||rs765202788||1||HGNC|HGNC:12870|3||||||||Ensembl||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|upstream_gene_variant|MODIFIER||ENSG00000278847|Transcript|ENST00000611750|lncRNA||||||||||rs765202788|4213|-1||||||||||||Ensembl||TATATATATATATATA|TATATATATATATATA||||chrY:g.2939008_2939023del|||||||||||||,-|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000625061|protein_coding||1/6|ENST00000625061.3:c.-29+3562_-29+3577del|||||||rs765202788||1||HGNC|HGNC:12870|2|CCDS48200.1|ENSP00000485605|P08048.221||UPI00017A7F3B|P08048-2||Ensembl||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001145275.2|protein_coding||1/5|NM_001145275.2:c.-18+3239_-18+3254del|||||||rs765202788||1||EntrezGene|HGNC:12870|||NP_001138747.1||||||RefSeq||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001145276.2|protein_coding||1/6|NM_001145276.2:c.-29+3562_-29+3577del|||||||rs765202788||1||EntrezGene|HGNC:12870|||NP_001138748.1||||||RefSeq||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369702.1|protein_coding||1/7|NM_001369702.1:c.-29+3562_-29+3577del|||||||rs765202788||1||EntrezGene|HGNC:12870|||NP_001356631.1||||||RefSeq||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369703.1|protein_coding||1/6|NM_001369703.1:c.-18+3239_-18+3254del|||||||rs765202788||1||EntrezGene|HGNC:12870|||NP_001356632.1||||||RefSeq||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369704.1|protein_coding||1/6|NM_001369704.1:c.-18+3562_-18+3577del|||||||rs765202788||1||EntrezGene|HGNC:12870|||NP_001356633.1||||||RefSeq||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369705.1|protein_coding||1/6|NM_001369705.1:c.-18+3373_-18+3388del|||||||rs765202788||1||EntrezGene|HGNC:12870|||NP_001356634.1||||||RefSeq||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369706.1|protein_coding||1/6|NM_001369706.1:c.-29+3239_-29+3254del|||||||rs765202788||1||EntrezGene|HGNC:12870|||NP_001356635.1||||||RefSeq||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369707.1|protein_coding||1/6|NM_001369707.1:c.-29+3562_-29+3577del|||||||rs765202788||1||EntrezGene|HGNC:12870|||NP_001356636.1||||||RefSeq||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369708.1|protein_coding||1/5|NM_001369708.1:c.-18+3562_-18+3577del|||||||rs765202788||1||EntrezGene|HGNC:12870|||NP_001356637.1||||||RefSeq||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369709.1|protein_coding||1/5|NM_001369709.1:c.-29+3562_-29+3577del|||||||rs765202788||1||EntrezGene|HGNC:12870|||NP_001356638.1||||||RefSeq||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369710.1|protein_coding||1/4|NM_001369710.1:c.-66+3239_-66+3254del|||||||rs765202788||1||EntrezGene|HGNC:12870|||NP_001356639.1||||||RefSeq||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_003411.4|protein_coding||1/7|NM_003411.4:c.-29+3239_-29+3254del|||||||rs765202788||1||EntrezGene|HGNC:12870|||NP_003402.2||||||RefSeq||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|XM_017030075.2|protein_coding||1/7|XM_017030075.2:c.-29+3373_-29+3388del|||||||rs765202788||1||EntrezGene|HGNC:12870|||XP_016885564.1||||||RefSeq||TATATATATATATATA|TATATATATATATATA|||24|chrY:g.2939008_2939023del|||||||||||||;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000155093,ENST00000383052,ENST00000443793,ENST00000449237,ENST00000469869,ENST00000611750,ENST00000625061,NM_001145275.2,NM_001145276.2,NM_001369702.1,NM_001369703.1,NM_001369704.1,NM_001369705.1,NM_001369706.1,NM_001369707.1,NM_001369708.1,NM_001369709.1,NM_001369710.1,NM_003411.4,XM_017030075.2;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000278847,ENSG00000067646,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544;VEP_SYMBOL=ZFY,ZFY,ZFY,ZFY,ZFY,.,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=496;gnomADv4_1_AC_joint_XY=496;gnomADv4_1_AF_grpmax_joint=0.538462;gnomADv4_1_AF_joint=0.0950192;gnomADv4_1_AF_joint_XY=0.0950192;gnomADv4_1_AN_grpmax_joint=26;gnomADv4_1_AN_joint=5220;gnomADv4_1_AN_joint_XY=5220;gnomADv4_1_FILTER=PASS;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2942542 chrY_2942542_G_A G A 54 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=54;CADD_PHREDscore=1.054;CADD_Rawscore=-0.004299;CSQ=A|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000155093|protein_coding||1/7|ENST00000155093.8:c.-29+6773G>A|||||||rs1270121||1||HGNC|HGNC:12870|1|CCDS14774.1|ENSP00000155093|P08048.221||UPI000006E69A|P08048-1||Ensembl||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000383052|protein_coding||1/7|ENST00000383052.5:c.-29+7096G>A|||||||rs1270121||1||HGNC|HGNC:12870|5|CCDS14774.1|ENSP00000372525|P08048.221||UPI000006E69A|P08048-1||Ensembl||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000443793|protein_coding||1/2|ENST00000443793.1:c.-29+6773G>A|||||||rs1270121||1|cds_end_NF|HGNC|HGNC:12870|3||ENSP00000388814||C9JQM1.63|UPI000059DC00|||Ensembl||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000449237|protein_coding||1/5|ENST00000449237.4:c.-18+6773G>A|||||||rs1270121||1||HGNC|HGNC:12870|1|CCDS48201.1|ENSP00000393908|P08048.221||UPI00006E0F28|P08048-3||Ensembl||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000469869|protein_coding_CDS_not_defined||1/3|ENST00000469869.1:n.270+6773G>A|||||||rs1270121||1||HGNC|HGNC:12870|3||||||||Ensembl||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000625061|protein_coding||1/6|ENST00000625061.3:c.-29+7096G>A|||||||rs1270121||1||HGNC|HGNC:12870|2|CCDS48200.1|ENSP00000485605|P08048.221||UPI00017A7F3B|P08048-2||Ensembl||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001145275.2|protein_coding||1/5|NM_001145275.2:c.-18+6773G>A|||||||rs1270121||1||EntrezGene|HGNC:12870|||NP_001138747.1||||||RefSeq||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001145276.2|protein_coding||1/6|NM_001145276.2:c.-29+7096G>A|||||||rs1270121||1||EntrezGene|HGNC:12870|||NP_001138748.1||||||RefSeq||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369702.1|protein_coding||1/7|NM_001369702.1:c.-29+7096G>A|||||||rs1270121||1||EntrezGene|HGNC:12870|||NP_001356631.1||||||RefSeq||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369703.1|protein_coding||1/6|NM_001369703.1:c.-18+6773G>A|||||||rs1270121||1||EntrezGene|HGNC:12870|||NP_001356632.1||||||RefSeq||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369704.1|protein_coding||1/6|NM_001369704.1:c.-18+7096G>A|||||||rs1270121||1||EntrezGene|HGNC:12870|||NP_001356633.1||||||RefSeq||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369705.1|protein_coding||1/6|NM_001369705.1:c.-18+6907G>A|||||||rs1270121||1||EntrezGene|HGNC:12870|||NP_001356634.1||||||RefSeq||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369706.1|protein_coding||1/6|NM_001369706.1:c.-29+6773G>A|||||||rs1270121||1||EntrezGene|HGNC:12870|||NP_001356635.1||||||RefSeq||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369707.1|protein_coding||1/6|NM_001369707.1:c.-29+7096G>A|||||||rs1270121||1||EntrezGene|HGNC:12870|||NP_001356636.1||||||RefSeq||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369708.1|protein_coding||1/5|NM_001369708.1:c.-18+7096G>A|||||||rs1270121||1||EntrezGene|HGNC:12870|||NP_001356637.1||||||RefSeq||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369709.1|protein_coding||1/5|NM_001369709.1:c.-29+7096G>A|||||||rs1270121||1||EntrezGene|HGNC:12870|||NP_001356638.1||||||RefSeq||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369710.1|protein_coding||1/4|NM_001369710.1:c.-66+6773G>A|||||||rs1270121||1||EntrezGene|HGNC:12870|||NP_001356639.1||||||RefSeq||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_003411.4|protein_coding||1/7|NM_003411.4:c.-29+6773G>A|||||||rs1270121||1||EntrezGene|HGNC:12870|||NP_003402.2||||||RefSeq||G|G||||chrY:g.2942542G>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|XM_017030075.2|protein_coding||1/7|XM_017030075.2:c.-29+6907G>A|||||||rs1270121||1||EntrezGene|HGNC:12870|||XP_016885564.1||||||RefSeq||G|G||||chrY:g.2942542G>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZFY|7544|Transcript|XM_047442758.1|protein_coding||||||||||rs1270121|3640|1||EntrezGene|HGNC:12870|||XP_047298714.1||||||RefSeq||G|G||||chrY:g.2942542G>A|||||||||||||;SpliceAI=A|ZFY|0.00|0.00|0.00|0.00|3|23|3|23;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000155093,ENST00000383052,ENST00000443793,ENST00000449237,ENST00000469869,ENST00000625061,NM_001145275.2,NM_001145276.2,NM_001369702.1,NM_001369703.1,NM_001369704.1,NM_001369705.1,NM_001369706.1,NM_001369707.1,NM_001369708.1,NM_001369709.1,NM_001369710.1,NM_003411.4,XM_017030075.2,XM_047442758.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000067646,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544;VEP_SYMBOL=ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=13973;gnomADv4_1_AC_joint_XY=13973;gnomADv4_1_AF_grpmax_joint=0.994797;gnomADv4_1_AF_joint=0.558786;gnomADv4_1_AF_joint_XY=0.558786;gnomADv4_1_AN_grpmax_joint=961;gnomADv4_1_AN_joint=25006;gnomADv4_1_AN_joint_XY=25006;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2949388 chrY_2949388_G_C G C 48 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=48;CADD_PHREDscore=1.208;CADD_Rawscore=0.031272;CSQ=C|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000155093|protein_coding||1/7|ENST00000155093.8:c.-28-4521G>C|||||||rs1270123||1||HGNC|HGNC:12870|1|CCDS14774.1|ENSP00000155093|P08048.221||UPI000006E69A|P08048-1||Ensembl||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000383052|protein_coding||1/7|ENST00000383052.5:c.-28-4521G>C|||||||rs1270123||1||HGNC|HGNC:12870|5|CCDS14774.1|ENSP00000372525|P08048.221||UPI000006E69A|P08048-1||Ensembl||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000443793|protein_coding||1/2|ENST00000443793.1:c.-28-4521G>C|||||||rs1270123||1|cds_end_NF|HGNC|HGNC:12870|3||ENSP00000388814||C9JQM1.63|UPI000059DC00|||Ensembl||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000449237|protein_coding||1/5|ENST00000449237.4:c.-17-11686G>C|||||||rs1270123||1||HGNC|HGNC:12870|1|CCDS48201.1|ENSP00000393908|P08048.221||UPI00006E0F28|P08048-3||Ensembl||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000469869|protein_coding_CDS_not_defined||1/3|ENST00000469869.1:n.270+13619G>C|||||||rs1270123||1||HGNC|HGNC:12870|3||||||||Ensembl||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000625061|protein_coding||1/6|ENST00000625061.3:c.-28-4521G>C|||||||rs1270123||1||HGNC|HGNC:12870|2|CCDS48200.1|ENSP00000485605|P08048.221||UPI00017A7F3B|P08048-2||Ensembl||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001145275.2|protein_coding||1/5|NM_001145275.2:c.-17-11686G>C|||||||rs1270123||1||EntrezGene|HGNC:12870|||NP_001138747.1||||||RefSeq||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001145276.2|protein_coding||1/6|NM_001145276.2:c.-28-4521G>C|||||||rs1270123||1||EntrezGene|HGNC:12870|||NP_001138748.1||||||RefSeq||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369702.1|protein_coding||1/7|NM_001369702.1:c.-28-4521G>C|||||||rs1270123||1||EntrezGene|HGNC:12870|||NP_001356631.1||||||RefSeq||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369703.1|protein_coding||1/6|NM_001369703.1:c.-17-11686G>C|||||||rs1270123||1||EntrezGene|HGNC:12870|||NP_001356632.1||||||RefSeq||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369704.1|protein_coding||1/6|NM_001369704.1:c.-17-11686G>C|||||||rs1270123||1||EntrezGene|HGNC:12870|||NP_001356633.1||||||RefSeq||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369705.1|protein_coding||1/6|NM_001369705.1:c.-17-11686G>C|||||||rs1270123||1||EntrezGene|HGNC:12870|||NP_001356634.1||||||RefSeq||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369706.1|protein_coding||1/6|NM_001369706.1:c.-28-4521G>C|||||||rs1270123||1||EntrezGene|HGNC:12870|||NP_001356635.1||||||RefSeq||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369707.1|protein_coding||1/6|NM_001369707.1:c.-28-4521G>C|||||||rs1270123||1||EntrezGene|HGNC:12870|||NP_001356636.1||||||RefSeq||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369708.1|protein_coding||1/5|NM_001369708.1:c.-17-11686G>C|||||||rs1270123||1||EntrezGene|HGNC:12870|||NP_001356637.1||||||RefSeq||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369709.1|protein_coding||1/5|NM_001369709.1:c.-28-4521G>C|||||||rs1270123||1||EntrezGene|HGNC:12870|||NP_001356638.1||||||RefSeq||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369710.1|protein_coding||1/4|NM_001369710.1:c.-66+13619G>C|||||||rs1270123||1||EntrezGene|HGNC:12870|||NP_001356639.1||||||RefSeq||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_003411.4|protein_coding||1/7|NM_003411.4:c.-28-4521G>C|||||||rs1270123||1||EntrezGene|HGNC:12870|||NP_003402.2||||||RefSeq||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|XM_017030075.2|protein_coding||1/7|XM_017030075.2:c.-28-4521G>C|||||||rs1270123||1||EntrezGene|HGNC:12870|||XP_016885564.1||||||RefSeq||G|G||||chrY:g.2949388G>C|||||||||||||,C|intron_variant|MODIFIER|ZFY|7544|Transcript|XM_047442758.1|protein_coding||1/7|XM_047442758.1:c.-29+3109G>C|||||||rs1270123||1||EntrezGene|HGNC:12870|||XP_047298714.1||||||RefSeq||G|G||||chrY:g.2949388G>C|||||||||||||;SpliceAI=C|ZFY|0.00|0.00|0.00|0.00|-1|-44|-25|24;TYPE=SNP;VEP_Allele=C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C,C;VEP_Feature=ENST00000155093,ENST00000383052,ENST00000443793,ENST00000449237,ENST00000469869,ENST00000625061,NM_001145275.2,NM_001145276.2,NM_001369702.1,NM_001369703.1,NM_001369704.1,NM_001369705.1,NM_001369706.1,NM_001369707.1,NM_001369708.1,NM_001369709.1,NM_001369710.1,NM_003411.4,XM_017030075.2,XM_047442758.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000067646,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544;VEP_SYMBOL=ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=17011;gnomADv4_1_AC_joint_XY=17011;gnomADv4_1_AF_grpmax_joint=0.982699;gnomADv4_1_AF_joint=0.562794;gnomADv4_1_AF_joint_XY=0.562794;gnomADv4_1_AN_grpmax_joint=1156;gnomADv4_1_AN_joint=30226;gnomADv4_1_AN_joint_XY=30226;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2956685 chrY_2956685_AC_A AC A 19 . AC=0;AC_Hemi=0;AC_Hemi_XX=0;AC_Hemi_XY=0;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=0;AF=.;AF_XX=.;AF_XY=.;AN=0;AN_XX=0;AN_XY=0;AQ=19;CADDIndel_PHREDscore=1.751;CADDIndel_Rawscore=0.128755;CSQ=-|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000155093|protein_coding||2/7|ENST00000155093.8:c.61+2698del|||||||rs1569465669||1||HGNC|HGNC:12870|1|CCDS14774.1|ENSP00000155093|P08048.221||UPI000006E69A|P08048-1||Ensembl||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000383052|protein_coding||2/7|ENST00000383052.5:c.61+2698del|||||||rs1569465669||1||HGNC|HGNC:12870|5|CCDS14774.1|ENSP00000372525|P08048.221||UPI000006E69A|P08048-1||Ensembl||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000443793|protein_coding||2/2|ENST00000443793.1:c.61+2698del|||||||rs1569465669||1|cds_end_NF|HGNC|HGNC:12870|3||ENSP00000388814||C9JQM1.63|UPI000059DC00|||Ensembl||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000449237|protein_coding||1/5|ENST00000449237.4:c.-17-4379del|||||||rs1569465669||1||HGNC|HGNC:12870|1|CCDS48201.1|ENSP00000393908|P08048.221||UPI00006E0F28|P08048-3||Ensembl||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant&non_coding_transcript_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000469869|protein_coding_CDS_not_defined||1/3|ENST00000469869.1:n.271-18400del|||||||rs1569465669||1||HGNC|HGNC:12870|3||||||||Ensembl||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000625061|protein_coding||2/6|ENST00000625061.3:c.61+2698del|||||||rs1569465669||1||HGNC|HGNC:12870|2|CCDS48200.1|ENSP00000485605|P08048.221||UPI00017A7F3B|P08048-2||Ensembl||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001145275.2|protein_coding||1/5|NM_001145275.2:c.-17-4379del|||||||rs1569465669||1||EntrezGene|HGNC:12870|||NP_001138747.1||||||RefSeq||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001145276.2|protein_coding||2/6|NM_001145276.2:c.61+2698del|||||||rs1569465669||1||EntrezGene|HGNC:12870|||NP_001138748.1||||||RefSeq||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369702.1|protein_coding||2/7|NM_001369702.1:c.61+2698del|||||||rs1569465669||1||EntrezGene|HGNC:12870|||NP_001356631.1||||||RefSeq||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369703.1|protein_coding||1/6|NM_001369703.1:c.-17-4379del|||||||rs1569465669||1||EntrezGene|HGNC:12870|||NP_001356632.1||||||RefSeq||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369704.1|protein_coding||1/6|NM_001369704.1:c.-17-4379del|||||||rs1569465669||1||EntrezGene|HGNC:12870|||NP_001356633.1||||||RefSeq||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369705.1|protein_coding||1/6|NM_001369705.1:c.-17-4379del|||||||rs1569465669||1||EntrezGene|HGNC:12870|||NP_001356634.1||||||RefSeq||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369706.1|protein_coding||2/6|NM_001369706.1:c.61+2698del|||||||rs1569465669||1||EntrezGene|HGNC:12870|||NP_001356635.1||||||RefSeq||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369707.1|protein_coding||2/6|NM_001369707.1:c.61+2698del|||||||rs1569465669||1||EntrezGene|HGNC:12870|||NP_001356636.1||||||RefSeq||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369708.1|protein_coding||1/5|NM_001369708.1:c.-17-4379del|||||||rs1569465669||1||EntrezGene|HGNC:12870|||NP_001356637.1||||||RefSeq||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369709.1|protein_coding||2/5|NM_001369709.1:c.61+2698del|||||||rs1569465669||1||EntrezGene|HGNC:12870|||NP_001356638.1||||||RefSeq||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369710.1|protein_coding||1/4|NM_001369710.1:c.-65-18400del|||||||rs1569465669||1||EntrezGene|HGNC:12870|||NP_001356639.1||||||RefSeq||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_003411.4|protein_coding||2/7|NM_003411.4:c.61+2698del|||||||rs1569465669||1||EntrezGene|HGNC:12870|||NP_003402.2||||||RefSeq||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|XM_017030075.2|protein_coding||2/7|XM_017030075.2:c.61+2698del|||||||rs1569465669||1||EntrezGene|HGNC:12870|||XP_016885564.1||||||RefSeq||C|C|||9|chrY:g.2956695del|||||||||||||,-|intron_variant|MODIFIER|ZFY|7544|Transcript|XM_047442758.1|protein_coding||2/7|XM_047442758.1:c.61+2698del|||||||rs1569465669||1||EntrezGene|HGNC:12870|||XP_047298714.1||||||RefSeq||C|C|||9|chrY:g.2956695del|||||||||||||;SpliceAI=A|ZFY|0.00|0.00|0.00|0.00|31|20|42|20;TYPE=INDEL;VEP_Allele=-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-,-;VEP_Feature=ENST00000155093,ENST00000383052,ENST00000443793,ENST00000449237,ENST00000469869,ENST00000625061,NM_001145275.2,NM_001145276.2,NM_001369702.1,NM_001369703.1,NM_001369704.1,NM_001369705.1,NM_001369706.1,NM_001369707.1,NM_001369708.1,NM_001369709.1,NM_001369710.1,NM_003411.4,XM_017030075.2,XM_047442758.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000067646,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544;VEP_SYMBOL=ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=124;gnomADv4_1_AC_joint_XY=124;gnomADv4_1_AF_grpmax_joint=0.375;gnomADv4_1_AF_joint=0.0282139;gnomADv4_1_AF_joint_XY=0.0282139;gnomADv4_1_AN_grpmax_joint=8;gnomADv4_1_AN_joint=4395;gnomADv4_1_AN_joint_XY=4395;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=mid;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=0.0;numhemi_XX=0.0;numhemi_XY=0.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2963307 chrY_2963307_A_G A G 54 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=54;CADD_PHREDscore=1.717;CADD_Rawscore=0.123605;CSQ=G|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000155093|protein_coding||3/7|ENST00000155093.8:c.634+1661A>G|||||||rs1569465817||1||HGNC|HGNC:12870|1|CCDS14774.1|ENSP00000155093|P08048.221||UPI000006E69A|P08048-1||Ensembl||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000383052|protein_coding||3/7|ENST00000383052.5:c.634+1661A>G|||||||rs1569465817||1||HGNC|HGNC:12870|5|CCDS14774.1|ENSP00000372525|P08048.221||UPI000006E69A|P08048-1||Ensembl||A|A||||chrY:g.2963307A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZFY-AS1|ENSG00000233070|Transcript|ENST00000417305|lncRNA||||||||||rs1569465817|3522|-1||HGNC|HGNC:38798|2||||||||Ensembl||A|A||||chrY:g.2963307A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000443793|protein_coding||||||||||rs1569465817|2021|1|cds_end_NF|HGNC|HGNC:12870|3||ENSP00000388814||C9JQM1.63|UPI000059DC00|||Ensembl||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000449237|protein_coding||2/5|ENST00000449237.4:c.556+1661A>G|||||||rs1569465817||1||HGNC|HGNC:12870|1|CCDS48201.1|ENSP00000393908|P08048.221||UPI00006E0F28|P08048-3||Ensembl||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000469869|protein_coding_CDS_not_defined||1/3|ENST00000469869.1:n.271-11788A>G|||||||rs1569465817||1||HGNC|HGNC:12870|3||||||||Ensembl||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000625061|protein_coding||2/6|ENST00000625061.3:c.61+9310A>G|||||||rs1569465817||1||HGNC|HGNC:12870|2|CCDS48200.1|ENSP00000485605|P08048.221||UPI00017A7F3B|P08048-2||Ensembl||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001145275.2|protein_coding||2/5|NM_001145275.2:c.556+1661A>G|||||||rs1569465817||1||EntrezGene|HGNC:12870|||NP_001138747.1||||||RefSeq||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001145276.2|protein_coding||2/6|NM_001145276.2:c.61+9310A>G|||||||rs1569465817||1||EntrezGene|HGNC:12870|||NP_001138748.1||||||RefSeq||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369702.1|protein_coding||3/7|NM_001369702.1:c.634+1661A>G|||||||rs1569465817||1||EntrezGene|HGNC:12870|||NP_001356631.1||||||RefSeq||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369703.1|protein_coding||2/6|NM_001369703.1:c.556+1661A>G|||||||rs1569465817||1||EntrezGene|HGNC:12870|||NP_001356632.1||||||RefSeq||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369704.1|protein_coding||2/6|NM_001369704.1:c.556+1661A>G|||||||rs1569465817||1||EntrezGene|HGNC:12870|||NP_001356633.1||||||RefSeq||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369705.1|protein_coding||2/6|NM_001369705.1:c.556+1661A>G|||||||rs1569465817||1||EntrezGene|HGNC:12870|||NP_001356634.1||||||RefSeq||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369706.1|protein_coding||3/6|NM_001369706.1:c.634+1661A>G|||||||rs1569465817||1||EntrezGene|HGNC:12870|||NP_001356635.1||||||RefSeq||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369707.1|protein_coding||3/6|NM_001369707.1:c.634+1661A>G|||||||rs1569465817||1||EntrezGene|HGNC:12870|||NP_001356636.1||||||RefSeq||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369708.1|protein_coding||2/5|NM_001369708.1:c.556+1661A>G|||||||rs1569465817||1||EntrezGene|HGNC:12870|||NP_001356637.1||||||RefSeq||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369709.1|protein_coding||2/5|NM_001369709.1:c.61+9310A>G|||||||rs1569465817||1||EntrezGene|HGNC:12870|||NP_001356638.1||||||RefSeq||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369710.1|protein_coding||1/4|NM_001369710.1:c.-65-11788A>G|||||||rs1569465817||1||EntrezGene|HGNC:12870|||NP_001356639.1||||||RefSeq||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_003411.4|protein_coding||3/7|NM_003411.4:c.634+1661A>G|||||||rs1569465817||1||EntrezGene|HGNC:12870|||NP_003402.2||||||RefSeq||A|A||||chrY:g.2963307A>G|||||||||||||,G|downstream_gene_variant|MODIFIER|ZFY-AS1|107987337|Transcript|NR_144458.1|lncRNA||||||||||rs1569465817|3512|-1||EntrezGene|HGNC:38798|||||||||RefSeq||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant|MODIFIER|ZFY|7544|Transcript|XM_017030075.2|protein_coding||3/7|XM_017030075.2:c.634+1661A>G|||||||rs1569465817||1||EntrezGene|HGNC:12870|||XP_016885564.1||||||RefSeq||A|A||||chrY:g.2963307A>G|||||||||||||,G|intron_variant|MODIFIER|ZFY|7544|Transcript|XM_047442758.1|protein_coding||3/7|XM_047442758.1:c.634+1661A>G|||||||rs1569465817||1||EntrezGene|HGNC:12870|||XP_047298714.1||||||RefSeq||A|A||||chrY:g.2963307A>G|||||||||||||;SpliceAI=G|ZFY|0.00|0.00|0.00|0.00|-23|32|-17|32;TYPE=SNP;VEP_Allele=G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G,G;VEP_Feature=ENST00000155093,ENST00000383052,ENST00000417305,ENST00000443793,ENST00000449237,ENST00000469869,ENST00000625061,NM_001145275.2,NM_001145276.2,NM_001369702.1,NM_001369703.1,NM_001369704.1,NM_001369705.1,NM_001369706.1,NM_001369707.1,NM_001369708.1,NM_001369709.1,NM_001369710.1,NM_003411.4,NR_144458.1,XM_017030075.2,XM_047442758.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000067646,ENSG00000067646,ENSG00000233070,ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000067646,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,107987337,7544,7544;VEP_SYMBOL=ZFY,ZFY,ZFY-AS1,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY-AS1,ZFY,ZFY;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2974171 chrY_2974171_A_T A T 48 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=48;CADD_PHREDscore=0.887;CADD_Rawscore=-0.048835;CSQ=T|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000155093|protein_coding||3/7|ENST00000155093.8:c.635-924A>T|||||||rs9786142||1||HGNC|HGNC:12870|1|CCDS14774.1|ENSP00000155093|P08048.221||UPI000006E69A|P08048-1||Ensembl||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000383052|protein_coding||3/7|ENST00000383052.5:c.635-924A>T|||||||rs9786142||1||HGNC|HGNC:12870|5|CCDS14774.1|ENSP00000372525|P08048.221||UPI000006E69A|P08048-1||Ensembl||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZFY-AS1|ENSG00000233070|Transcript|ENST00000417305|lncRNA||2/2|ENST00000417305.2:n.597-7232T>A|||||||rs9786142||-1||HGNC|HGNC:38798|2||||||||Ensembl||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000449237|protein_coding||2/5|ENST00000449237.4:c.557-924A>T|||||||rs9786142||1||HGNC|HGNC:12870|1|CCDS48201.1|ENSP00000393908|P08048.221||UPI00006E0F28|P08048-3||Ensembl||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000469869|protein_coding_CDS_not_defined||1/3|ENST00000469869.1:n.271-924A>T|||||||rs9786142||1||HGNC|HGNC:12870|3||||||||Ensembl||A|A||||chrY:g.2974171A>T|||||||||||||,T|upstream_gene_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000478783|protein_coding_CDS_not_defined||||||||||rs9786142|3648|1||HGNC|HGNC:12870|3||||||||Ensembl||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000625061|protein_coding||2/6|ENST00000625061.3:c.62-924A>T|||||||rs9786142||1||HGNC|HGNC:12870|2|CCDS48200.1|ENSP00000485605|P08048.221||UPI00017A7F3B|P08048-2||Ensembl||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001145275.2|protein_coding||2/5|NM_001145275.2:c.557-924A>T|||||||rs9786142||1||EntrezGene|HGNC:12870|||NP_001138747.1||||||RefSeq||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001145276.2|protein_coding||2/6|NM_001145276.2:c.62-924A>T|||||||rs9786142||1||EntrezGene|HGNC:12870|||NP_001138748.1||||||RefSeq||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369702.1|protein_coding||3/7|NM_001369702.1:c.635-924A>T|||||||rs9786142||1||EntrezGene|HGNC:12870|||NP_001356631.1||||||RefSeq||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369703.1|protein_coding||2/6|NM_001369703.1:c.557-924A>T|||||||rs9786142||1||EntrezGene|HGNC:12870|||NP_001356632.1||||||RefSeq||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369704.1|protein_coding||2/6|NM_001369704.1:c.557-924A>T|||||||rs9786142||1||EntrezGene|HGNC:12870|||NP_001356633.1||||||RefSeq||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369705.1|protein_coding||2/6|NM_001369705.1:c.557-924A>T|||||||rs9786142||1||EntrezGene|HGNC:12870|||NP_001356634.1||||||RefSeq||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369706.1|protein_coding||3/6|NM_001369706.1:c.635-924A>T|||||||rs9786142||1||EntrezGene|HGNC:12870|||NP_001356635.1||||||RefSeq||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369707.1|protein_coding||3/6|NM_001369707.1:c.635-924A>T|||||||rs9786142||1||EntrezGene|HGNC:12870|||NP_001356636.1||||||RefSeq||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369708.1|protein_coding||2/5|NM_001369708.1:c.557-924A>T|||||||rs9786142||1||EntrezGene|HGNC:12870|||NP_001356637.1||||||RefSeq||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369709.1|protein_coding||2/5|NM_001369709.1:c.62-924A>T|||||||rs9786142||1||EntrezGene|HGNC:12870|||NP_001356638.1||||||RefSeq||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369710.1|protein_coding||1/4|NM_001369710.1:c.-65-924A>T|||||||rs9786142||1||EntrezGene|HGNC:12870|||NP_001356639.1||||||RefSeq||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_003411.4|protein_coding||3/7|NM_003411.4:c.635-924A>T|||||||rs9786142||1||EntrezGene|HGNC:12870|||NP_003402.2||||||RefSeq||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|ZFY-AS1|107987337|Transcript|NR_144458.1|lncRNA||2/2|NR_144458.1:n.405-7232T>A|||||||rs9786142||-1||EntrezGene|HGNC:38798|||||||||RefSeq||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant|MODIFIER|ZFY|7544|Transcript|XM_017030075.2|protein_coding||3/7|XM_017030075.2:c.635-924A>T|||||||rs9786142||1||EntrezGene|HGNC:12870|||XP_016885564.1||||||RefSeq||A|A||||chrY:g.2974171A>T|||||||||||||,T|intron_variant|MODIFIER|ZFY|7544|Transcript|XM_047442758.1|protein_coding||3/7|XM_047442758.1:c.635-924A>T|||||||rs9786142||1||EntrezGene|HGNC:12870|||XP_047298714.1||||||RefSeq||A|A||||chrY:g.2974171A>T|||||||||||||;SpliceAI=T|ZFY|0.00|0.00|0.00|0.00|34|2|38|-27;TYPE=SNP;VEP_Allele=T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T;VEP_Feature=ENST00000155093,ENST00000383052,ENST00000417305,ENST00000449237,ENST00000469869,ENST00000478783,ENST00000625061,NM_001145275.2,NM_001145276.2,NM_001369702.1,NM_001369703.1,NM_001369704.1,NM_001369705.1,NM_001369706.1,NM_001369707.1,NM_001369708.1,NM_001369709.1,NM_001369710.1,NM_003411.4,NR_144458.1,XM_017030075.2,XM_047442758.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000067646,ENSG00000067646,ENSG00000233070,ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000067646,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,107987337,7544,7544;VEP_SYMBOL=ZFY,ZFY,ZFY-AS1,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY-AS1,ZFY,ZFY;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=18979;gnomADv4_1_AC_joint_XY=18979;gnomADv4_1_AF_grpmax_joint=0.996689;gnomADv4_1_AF_joint=0.659405;gnomADv4_1_AF_joint_XY=0.659405;gnomADv4_1_AN_grpmax_joint=1208;gnomADv4_1_AN_joint=28782;gnomADv4_1_AN_joint_XY=28782;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 +chrY 2974173 chrY_2974173_T_A T A 48 . AC=2;AC_Hemi=2;AC_Hemi_XX=0;AC_Hemi_XY=2;AC_Het=0;AC_Het_XX=0;AC_Het_XY=0;AC_Hom=0;AC_Hom_XX=0;AC_Hom_XY=0;AC_XX=0;AC_XY=2;AF=1.0;AF_XX=.;AF_XY=1.0;AN=2;AN_XX=0;AN_XY=2;AQ=48;CADD_PHREDscore=0.82;CADD_Rawscore=-0.068854;CSQ=A|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000155093|protein_coding||3/7|ENST00000155093.8:c.635-922T>A|||||||rs9786091||1||HGNC|HGNC:12870|1|CCDS14774.1|ENSP00000155093|P08048.221||UPI000006E69A|P08048-1||Ensembl||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000383052|protein_coding||3/7|ENST00000383052.5:c.635-922T>A|||||||rs9786091||1||HGNC|HGNC:12870|5|CCDS14774.1|ENSP00000372525|P08048.221||UPI000006E69A|P08048-1||Ensembl||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZFY-AS1|ENSG00000233070|Transcript|ENST00000417305|lncRNA||2/2|ENST00000417305.2:n.597-7234A>T|||||||rs9786091||-1||HGNC|HGNC:38798|2||||||||Ensembl||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000449237|protein_coding||2/5|ENST00000449237.4:c.557-922T>A|||||||rs9786091||1||HGNC|HGNC:12870|1|CCDS48201.1|ENSP00000393908|P08048.221||UPI00006E0F28|P08048-3||Ensembl||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000469869|protein_coding_CDS_not_defined||1/3|ENST00000469869.1:n.271-922T>A|||||||rs9786091||1||HGNC|HGNC:12870|3||||||||Ensembl||T|T||||chrY:g.2974173T>A|||||||||||||,A|upstream_gene_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000478783|protein_coding_CDS_not_defined||||||||||rs9786091|3646|1||HGNC|HGNC:12870|3||||||||Ensembl||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|ENSG00000067646|Transcript|ENST00000625061|protein_coding||2/6|ENST00000625061.3:c.62-922T>A|||||||rs9786091||1||HGNC|HGNC:12870|2|CCDS48200.1|ENSP00000485605|P08048.221||UPI00017A7F3B|P08048-2||Ensembl||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001145275.2|protein_coding||2/5|NM_001145275.2:c.557-922T>A|||||||rs9786091||1||EntrezGene|HGNC:12870|||NP_001138747.1||||||RefSeq||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001145276.2|protein_coding||2/6|NM_001145276.2:c.62-922T>A|||||||rs9786091||1||EntrezGene|HGNC:12870|||NP_001138748.1||||||RefSeq||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369702.1|protein_coding||3/7|NM_001369702.1:c.635-922T>A|||||||rs9786091||1||EntrezGene|HGNC:12870|||NP_001356631.1||||||RefSeq||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369703.1|protein_coding||2/6|NM_001369703.1:c.557-922T>A|||||||rs9786091||1||EntrezGene|HGNC:12870|||NP_001356632.1||||||RefSeq||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369704.1|protein_coding||2/6|NM_001369704.1:c.557-922T>A|||||||rs9786091||1||EntrezGene|HGNC:12870|||NP_001356633.1||||||RefSeq||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369705.1|protein_coding||2/6|NM_001369705.1:c.557-922T>A|||||||rs9786091||1||EntrezGene|HGNC:12870|||NP_001356634.1||||||RefSeq||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369706.1|protein_coding||3/6|NM_001369706.1:c.635-922T>A|||||||rs9786091||1||EntrezGene|HGNC:12870|||NP_001356635.1||||||RefSeq||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369707.1|protein_coding||3/6|NM_001369707.1:c.635-922T>A|||||||rs9786091||1||EntrezGene|HGNC:12870|||NP_001356636.1||||||RefSeq||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369708.1|protein_coding||2/5|NM_001369708.1:c.557-922T>A|||||||rs9786091||1||EntrezGene|HGNC:12870|||NP_001356637.1||||||RefSeq||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369709.1|protein_coding||2/5|NM_001369709.1:c.62-922T>A|||||||rs9786091||1||EntrezGene|HGNC:12870|||NP_001356638.1||||||RefSeq||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_001369710.1|protein_coding||1/4|NM_001369710.1:c.-65-922T>A|||||||rs9786091||1||EntrezGene|HGNC:12870|||NP_001356639.1||||||RefSeq||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|NM_003411.4|protein_coding||3/7|NM_003411.4:c.635-922T>A|||||||rs9786091||1||EntrezGene|HGNC:12870|||NP_003402.2||||||RefSeq||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|ZFY-AS1|107987337|Transcript|NR_144458.1|lncRNA||2/2|NR_144458.1:n.405-7234A>T|||||||rs9786091||-1||EntrezGene|HGNC:38798|||||||||RefSeq||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|XM_017030075.2|protein_coding||3/7|XM_017030075.2:c.635-922T>A|||||||rs9786091||1||EntrezGene|HGNC:12870|||XP_016885564.1||||||RefSeq||T|T||||chrY:g.2974173T>A|||||||||||||,A|intron_variant|MODIFIER|ZFY|7544|Transcript|XM_047442758.1|protein_coding||3/7|XM_047442758.1:c.635-922T>A|||||||rs9786091||1||EntrezGene|HGNC:12870|||XP_047298714.1||||||RefSeq||T|T||||chrY:g.2974173T>A|||||||||||||;SpliceAI=A|ZFY|0.00|0.00|0.00|0.00|27|36|-1|36;TYPE=SNP;VEP_Allele=A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A,A;VEP_Feature=ENST00000155093,ENST00000383052,ENST00000417305,ENST00000449237,ENST00000469869,ENST00000478783,ENST00000625061,NM_001145275.2,NM_001145276.2,NM_001369702.1,NM_001369703.1,NM_001369704.1,NM_001369705.1,NM_001369706.1,NM_001369707.1,NM_001369708.1,NM_001369709.1,NM_001369710.1,NM_003411.4,NR_144458.1,XM_017030075.2,XM_047442758.1;VEP_Feature_type=Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript,Transcript;VEP_Gene=ENSG00000067646,ENSG00000067646,ENSG00000233070,ENSG00000067646,ENSG00000067646,ENSG00000067646,ENSG00000067646,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,7544,107987337,7544,7544;VEP_SYMBOL=ZFY,ZFY,ZFY-AS1,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY,ZFY-AS1,ZFY,ZFY;VEP_existing_InFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_OutOfFrame_oORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_existing_uORFs=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_annotation=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;VEP_five_prime_UTR_variant_consequence=.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.;gnomADv4_1_AC_joint=16420;gnomADv4_1_AC_joint_XY=16420;gnomADv4_1_AF_grpmax_joint=0.981636;gnomADv4_1_AF_joint=0.569032;gnomADv4_1_AF_joint_XY=0.569032;gnomADv4_1_AN_grpmax_joint=1198;gnomADv4_1_AN_joint=28856;gnomADv4_1_AN_joint_XY=28856;gnomADv4_1_FILTER=GENOMES_FILTERED;gnomADv4_1_grpmax_joint=eas;gnomADv4_1_nhomalt_joint=0;gnomADv4_1_nhomalt_joint_XY=0;numhemi=2.0;numhemi_XX=0.0;numhemi_XY=2.0;numhet=0.0;numhet_XX=0.0;numhet_XY=0.0;numhomalt=0.0;numhomalt_XX=0.0;numhomalt_XY=0.0 diff --git a/pyproject.toml b/pyproject.toml index 494756f5..087eb446 100644 --- a/pyproject.toml +++ b/pyproject.toml @@ -18,8 +18,9 @@ dependencies = [ "django-tracking2>=0.5.1", "django-auth-adfs==1.16", "django-auditlog>=3.4.0", - "django-pghistory>=3.2.0", - "python-dotenv>=1.2.2", + "vcfpy>=0.14.2", + "tenacity>=9.1.4", + "python-dotenv>=1.0.1", "pymysql>=1.1.2", # temporary pin to address https://github.com/wassermanlab/variome/security/dependabot/82 # Remove once all dependencies require this minimal version. @@ -51,3 +52,12 @@ allow-direct-references = true [tool.hatch.build.targets.wheel] packages = ["variome"] + +[tool.pytest.ini_options] +pythonpath = ["."] + +[dependency-groups] +dev = [ + "pytest>=9.0.2", + "watchdog>=6.0.0", +] diff --git a/requirements.lock b/requirements.lock index c9dc4491..00b58c1b 100644 --- a/requirements.lock +++ b/requirements.lock @@ -1,22 +1,22 @@ # This file was autogenerated by uv via the following command: # uv pip compile pyproject.toml -o requirements.lock -asgiref==3.8.1 +asgiref==3.11.1 # via # django # django-cors-headers -certifi==2025.1.31 +certifi==2026.4.22 # via requests cffi==2.0.0 # via cryptography -charset-normalizer==3.4.1 +charset-normalizer==3.4.7 # via requests -cryptography==46.0.7 +cryptography==50.0.1 # via # variome (pyproject.toml) # django-auth-adfs -dj-database-url==2.3.0 +dj-database-url==3.1.2 # via variome (pyproject.toml) -django==5.2.15 +django==6.0.7 # via # variome (pyproject.toml) # dj-database-url @@ -24,25 +24,19 @@ django==5.2.15 # django-auth-adfs # django-cors-headers # django-extensions - # django-pghistory - # django-pgtrigger # django-tracking2 # djangorestframework django-auditlog==3.4.1 # via variome (pyproject.toml) django-auth-adfs==1.16.0 # via variome (pyproject.toml) -django-cors-headers==4.7.0 +django-cors-headers==4.9.0 # via variome (pyproject.toml) django-extensions==3.2.3 # via variome (pyproject.toml) -django-pghistory==3.9.2 - # via variome (pyproject.toml) -django-pgtrigger==4.17.0 - # via django-pghistory django-tracking2==0.5.1 # via variome (pyproject.toml) -djangorestframework==3.15.2 +djangorestframework==3.17.1 # via variome (pyproject.toml) idna==3.15 # via @@ -56,24 +50,30 @@ psycopg-binary==3.3.4 # via psycopg pycparser==2.22 # via cffi -pyjwt==2.12.1 - # via django-auth-adfs +pyjwt==2.13.0 + # via + # variome (pyproject.toml) + # django-auth-adfs pymysql==1.1.2 # via variome (pyproject.toml) python-dateutil==2.9.0.post0 # via django-auditlog python-dotenv==1.1.0 # via variome (pyproject.toml) -requests==2.32.3 +requests==2.33.1 # via django-auth-adfs six==1.17.0 # via python-dateutil -sqlparse==0.5.3 - # via django -typing-extensions==4.13.0 - # via dj-database-url +sqlparse==0.6.0 + # via + # variome (pyproject.toml) + # django +tenacity==9.1.4 + # via variome (pyproject.toml) urllib3==2.7.0 # via # variome (pyproject.toml) # django-auth-adfs # requests +vcfpy==0.14.2 + # via variome (pyproject.toml) diff --git a/run_backend_tests.sh b/run_backend_tests.sh new file mode 100755 index 00000000..25aab25f --- /dev/null +++ b/run_backend_tests.sh @@ -0,0 +1,17 @@ +#!/bin/bash +set -euo pipefail +# Run all backend tests (middleware + VCF import tests) and re-run on file changes. +# Requires dev dependencies: uv sync --dev +# Unsets DB so Django falls back to the in-memory SQLite database for tests. + +export DB="" +COMMAND="uv run python manage.py test variome_backend.tests" +echo "Running backend tests with command: $COMMAND" +$COMMAND; + +uv run watchmedo shell-command \ + --patterns="*.py" \ + --recursive \ + --drop \ + --command="$COMMAND" \ + . diff --git a/uv.lock b/uv.lock index 419bd297..81ad34e1 100644 --- a/uv.lock +++ b/uv.lock @@ -13,11 +13,11 @@ wheels = [ [[package]] name = "certifi" -version = "2026.2.25" +version = "2026.4.22" source = { registry = "https://pypi.org/simple" } -sdist = { url = "https://files.pythonhosted.org/packages/af/2d/7bf41579a8986e348fa033a31cdd0e4121114f6bce2457e8876010b092dd/certifi-2026.2.25.tar.gz", hash = "sha256:e887ab5cee78ea814d3472169153c2d12cd43b14bd03329a39a9c6e2e80bfba7", size = 155029, upload-time = "2026-02-25T02:54:17.342Z" } +sdist = { url = "https://files.pythonhosted.org/packages/25/ee/6caf7a40c36a1220410afe15a1cc64993a1f864871f698c0f93acb72842a/certifi-2026.4.22.tar.gz", hash = "sha256:8d455352a37b71bf76a79caa83a3d6c25afee4a385d632127b6afb3963f1c580", size = 137077, upload-time = "2026-04-22T11:26:11.191Z" } wheels = [ - { url = "https://files.pythonhosted.org/packages/9a/3c/c17fb3ca2d9c3acff52e30b309f538586f9f5b9c9cf454f3845fc9af4881/certifi-2026.2.25-py3-none-any.whl", hash = "sha256:027692e4402ad994f1c42e52a4997a9763c646b73e4096e4d5d6db8af1d6f0fa", size = 153684, upload-time = "2026-02-25T02:54:15.766Z" }, + { url = "https://files.pythonhosted.org/packages/22/30/7cd8fdcdfbc5b869528b079bfb76dcdf6056b1a2097a662e5e8c04f42965/certifi-2026.4.22-py3-none-any.whl", hash = "sha256:3cb2210c8f88ba2318d29b0388d1023c8492ff72ecdde4ebdaddbb13a31b1c4a", size = 135707, upload-time = "2026-04-22T11:26:09.372Z" }, ] [[package]] @@ -122,54 +122,63 @@ wheels = [ { url = "https://files.pythonhosted.org/packages/db/8f/61959034484a4a7c527811f4721e75d02d653a35afb0b6054474d8185d4c/charset_normalizer-3.4.7-py3-none-any.whl", hash = "sha256:3dce51d0f5e7951f8bb4900c257dad282f49190fdbebecd4ba99bcc41fef404d", size = 61958, upload-time = "2026-04-02T09:28:37.794Z" }, ] +[[package]] +name = "colorama" +version = "0.4.6" +source = { registry = "https://pypi.org/simple" } +sdist = { url = "https://files.pythonhosted.org/packages/d8/53/6f443c9a4a8358a93a6792e2acffb9d9d5cb0a5cfd8802644b7b1c9a02e4/colorama-0.4.6.tar.gz", hash = "sha256:08695f5cb7ed6e0531a20572697297273c47b8cae5a63ffc6d6ed5c201be6e44", size = 27697, upload-time = "2022-10-25T02:36:22.414Z" } +wheels = [ + { url = "https://files.pythonhosted.org/packages/d1/d6/3965ed04c63042e047cb6a3e6ed1a63a35087b6a609aa3a15ed8ac56c221/colorama-0.4.6-py2.py3-none-any.whl", hash = "sha256:4f1d9991f5acc0ca119f9d443620b77f9d6b33703e51011c16baf57afb285fc6", size = 25335, upload-time = "2022-10-25T02:36:20.889Z" }, +] + [[package]] name = "cryptography" -version = "50.0.0" +version = "50.0.1" source = { registry = "https://pypi.org/simple" } dependencies = [ { name = "cffi", marker = "platform_python_implementation != 'PyPy'" }, ] -sdist = { url = "https://files.pythonhosted.org/packages/de/41/6cbdcf9142d00fe82836fbb51e503e58088575cf7a0fe1dbff6695bf0840/cryptography-50.0.0.tar.gz", hash = "sha256:eeac2acb5a20ed25e0ad6d1df9891a520b78b404266b6d11778f25d5d691a6c9", size = 880201, upload-time = "2026-07-31T14:25:10.11Z" } -wheels = [ - { url = "https://files.pythonhosted.org/packages/c5/5c/59086b4aac5e879d38ddbcf74e4be7ade89cebc3eb199a55da998c3bb46a/cryptography-50.0.0-cp311-abi3-macosx_11_0_arm64.whl", hash = "sha256:031e2d5dd4bb9caa3ca9c82e5a197fd8ae680232cee62603d1a813f3f07e3d03", size = 4001252, upload-time = "2026-07-31T14:23:33.331Z" }, - { url = "https://files.pythonhosted.org/packages/57/ef/8f2df13c7216bcad3e1c74e07f6e193d93e998e114f524a53877c9af27ad/cryptography-50.0.0-cp311-abi3-manylinux2014_aarch64.manylinux_2_17_aarch64.whl", hash = "sha256:fd9192b7b70c573d7f214eb1ae35e00d359f6f5e4b27c7e21e30de1fc6204645", size = 4719554, upload-time = "2026-07-31T14:23:35.611Z" }, - { url = "https://files.pythonhosted.org/packages/d9/41/029086c34d91052fc3b88bcc8056f709a7c915c7a23b235a54eb800b1c97/cryptography-50.0.0-cp311-abi3-manylinux2014_x86_64.manylinux_2_17_x86_64.whl", hash = "sha256:06a32a980526a6ab9a4b9bf8f7385800791e2bb960903cb6b530e4817509a3b7", size = 4702130, upload-time = "2026-07-31T14:23:37.635Z" }, - { url = "https://files.pythonhosted.org/packages/7d/ff/b6ce0954962e7f7b969f850a883744197bb3910bdfd7b6da162eab7d9f68/cryptography-50.0.0-cp311-abi3-manylinux_2_28_aarch64.whl", hash = "sha256:a1b30560f2acc95aa8b2e06e716a13dbfc97314747b80d9707e307f77b40d6b3", size = 4725244, upload-time = "2026-07-31T14:23:39.471Z" }, - { url = "https://files.pythonhosted.org/packages/06/1e/63a1027cb7fec360a182208e1b7767d5aa1fe57be3d6aa856e69a321edc0/cryptography-50.0.0-cp311-abi3-manylinux_2_28_ppc64le.whl", hash = "sha256:8d89f3976b10b4ce31118de72329025f70d2c6ead14a8217c5514dd2c6d5a78f", size = 5342265, upload-time = "2026-07-31T14:23:41.286Z" }, - { url = "https://files.pythonhosted.org/packages/6b/72/a1116d683a6d7ece94590013882515de087edf9ef0e6292aae615a44df73/cryptography-50.0.0-cp311-abi3-manylinux_2_28_x86_64.whl", hash = "sha256:b42a28c1844fd9de8f3f7d540e36b66f3a9c83fceac7170ebc7a6a19edd9dcae", size = 4734609, upload-time = "2026-07-31T14:23:43.139Z" }, - { url = "https://files.pythonhosted.org/packages/15/37/36a9c479bbe49acea2636c7fd3360d20f7b7e079c300352011c44850b181/cryptography-50.0.0-cp311-abi3-manylinux_2_31_armv7l.whl", hash = "sha256:900131fafd8aead39ac7dd3a7e833be754c17a95cfd91221636949fe4eb0aa8a", size = 4356517, upload-time = "2026-07-31T14:23:44.939Z" }, - { url = "https://files.pythonhosted.org/packages/32/98/8a151d64367204cbc63ec65d37502f1d9c53cf4bfc6ec3c532614dbec60d/cryptography-50.0.0-cp311-abi3-manylinux_2_34_aarch64.whl", hash = "sha256:07949c449a1abcf60d1ee6e88956d89404c7df3c8258f46589e912988e551987", size = 4724529, upload-time = "2026-07-31T14:23:46.93Z" }, - { url = "https://files.pythonhosted.org/packages/22/f6/ec13b470172126464a86bf54d2294a46d29837fc51ba3e45d4047946fb5e/cryptography-50.0.0-cp311-abi3-manylinux_2_34_ppc64le.whl", hash = "sha256:f89831ef99dd7dd169ab06d63a831adb9e20a87aac6d380266bbda5823349169", size = 5299852, upload-time = "2026-07-31T14:23:48.851Z" }, - { url = "https://files.pythonhosted.org/packages/da/3a/f05e32c99d440c9bb891ea0e36c9091891e36be5a9a87ab2ee6ea20729f6/cryptography-50.0.0-cp311-abi3-manylinux_2_34_x86_64.whl", hash = "sha256:82148ec5bddac30b51a5b3c1945075f896fa022cb93f8e4a01e9f6ee95292c5f", size = 4734462, upload-time = "2026-07-31T14:23:50.861Z" }, - { url = "https://files.pythonhosted.org/packages/ca/dc/bd72b26be8953f80625f63151efd38eee71c76ca6cf591c08ff34615a79e/cryptography-50.0.0-cp311-abi3-musllinux_1_2_aarch64.whl", hash = "sha256:1489e263a8048bb8b6a8bac662eb2d402ea5d2b7b4699b72f385f1e2772db105", size = 4852708, upload-time = "2026-07-31T14:23:52.715Z" }, - { url = "https://files.pythonhosted.org/packages/27/20/c930314a2ab476d15dec966ec87e2e9637bb02b06106b12c0396c57bb603/cryptography-50.0.0-cp311-abi3-musllinux_1_2_x86_64.whl", hash = "sha256:7cec5b856506da6defb290f30c9ee687d5f5e8cb0bd3f6459dde43b0b4fa40ef", size = 5004179, upload-time = "2026-07-31T14:23:54.887Z" }, - { url = "https://files.pythonhosted.org/packages/32/2e/c9db68a0c4bfa28e310707527c0ee3a2bd254104d2e02e68f368e197aa4c/cryptography-50.0.0-cp311-abi3-win_amd64.whl", hash = "sha256:bd1c592e4d5974f0d08d4888e432157adba757c66da0246918e43677fafa2d30", size = 3840395, upload-time = "2026-07-31T14:23:56.677Z" }, - { url = "https://files.pythonhosted.org/packages/c3/fb/951032a3bf22a5697c83183fb6294a4843772947a70e616c57b3ff5f522e/cryptography-50.0.0-cp314-cp314t-macosx_11_0_arm64.whl", hash = "sha256:49e7d93abdbd2990caced757e5fade25302f719c3c8fb6e6fff2dde98999fc41", size = 3989258, upload-time = "2026-07-31T14:23:58.881Z" }, - { url = "https://files.pythonhosted.org/packages/d4/67/91eb047e69c5e845f2f14b8a2e4a1aab0f283cb885531e9e22c8adb176bc/cryptography-50.0.0-cp314-cp314t-manylinux2014_aarch64.manylinux_2_17_aarch64.whl", hash = "sha256:19736989797678c6af1e55cd49055cdbcb55d8f6b5583ac5335f933aba9101dc", size = 4700648, upload-time = "2026-07-31T14:24:00.702Z" }, - { url = "https://files.pythonhosted.org/packages/30/82/85f0f7425c856b9f96459411eb12e74ef72df9caf6f8f15bf23a33ff131f/cryptography-50.0.0-cp314-cp314t-manylinux2014_x86_64.manylinux_2_17_x86_64.whl", hash = "sha256:80b63928fa35083b33966ce1efb70e5b9607181e49dcd1c22c8c005e319f667f", size = 4682442, upload-time = "2026-07-31T14:24:02.538Z" }, - { url = "https://files.pythonhosted.org/packages/1a/28/b555a365adff1cca2fbe7b9e487d68a40de6bc67ff2cb587473eb43de0e7/cryptography-50.0.0-cp314-cp314t-manylinux_2_28_aarch64.whl", hash = "sha256:d58c3db7cd6eed54e6c06744db55456b65ebd7492ddeae9c1e93cfca7aa857d3", size = 4707596, upload-time = "2026-07-31T14:24:04.394Z" }, - { url = "https://files.pythonhosted.org/packages/72/d8/f52538140cc719df62a01cf87d1c7142318d235817109d6f4054d7c352d6/cryptography-50.0.0-cp314-cp314t-manylinux_2_28_ppc64le.whl", hash = "sha256:df2a58a472f332225671c35b0a830208b86d004f82baa8530fa3782c85646533", size = 5314552, upload-time = "2026-07-31T14:24:06.31Z" }, - { url = "https://files.pythonhosted.org/packages/38/14/6120e5bd7c5aa022ad15424ba4d5c5269d0d9448ed4d55e492ea91e3c1c4/cryptography-50.0.0-cp314-cp314t-manylinux_2_28_x86_64.whl", hash = "sha256:11b74db56cdbe3cdee6e3f6982ecb70334fa10dce99ed58bf7894aaaa3b2a037", size = 4717113, upload-time = "2026-07-31T14:24:08.349Z" }, - { url = "https://files.pythonhosted.org/packages/fa/71/190bf38c3ee2e0f8efc9860ae100c9df4169742eef274b91e7aa1cb133b9/cryptography-50.0.0-cp314-cp314t-manylinux_2_31_armv7l.whl", hash = "sha256:f59e38625469987d7ef6d495323c55e7db6c212eaf6112267e0d3b565a2e9c9f", size = 4338580, upload-time = "2026-07-31T14:24:10.227Z" }, - { url = "https://files.pythonhosted.org/packages/3a/63/504ccfbbe61fd8aa983f7f146399cdf034c72c2fc55f5b2dfdcdcdb20c99/cryptography-50.0.0-cp314-cp314t-manylinux_2_34_aarch64.whl", hash = "sha256:ecfed7367f965a0328cfbdd70da860f15441f002f613185668c6e6ebf5a0ac11", size = 4707038, upload-time = "2026-07-31T14:24:12.169Z" }, - { url = "https://files.pythonhosted.org/packages/01/77/2cf79bbfc4d12ca106437a6e170d6aaa01a373e93093118aaaef0e801bd4/cryptography-50.0.0-cp314-cp314t-manylinux_2_34_ppc64le.whl", hash = "sha256:9aa87839c383bdbab6ef865787a1fb877af8dd03464c4400322726feaaadfc6d", size = 5273110, upload-time = "2026-07-31T14:24:14.38Z" }, - { url = "https://files.pythonhosted.org/packages/e5/45/8aae2972c520145377ea3559a605a899bebe227bf070b33cdb445929a9b9/cryptography-50.0.0-cp314-cp314t-manylinux_2_34_x86_64.whl", hash = "sha256:6ba6a53445bd3cfa809ef3ef5f1589aa6ba08784a1d962bf47d0940e871dab1c", size = 4716439, upload-time = "2026-07-31T14:24:16.415Z" }, - { url = "https://files.pythonhosted.org/packages/7b/20/4fe50b619a48c2525cc46e2dbc1ac490708d704be5d467bdaac6dc955682/cryptography-50.0.0-cp314-cp314t-musllinux_1_2_aarch64.whl", hash = "sha256:3f5735ffe4996d28b809371756219f5354864902a3b9e7c0b9ee87041209fc9c", size = 4837383, upload-time = "2026-07-31T14:24:18.553Z" }, - { url = "https://files.pythonhosted.org/packages/92/91/3a31366e183343d3703f8995c095f5734676bd6938118047e50fcf279eb4/cryptography-50.0.0-cp314-cp314t-musllinux_1_2_x86_64.whl", hash = "sha256:1b4a266766514614f8aa60416e71f2fc6e575d36e7bdc90f644fadb2f4b75b95", size = 4985772, upload-time = "2026-07-31T14:24:20.385Z" }, - { url = "https://files.pythonhosted.org/packages/74/9a/02ffe35b2853d121689871eb5dce862092562b3a1ed5cc98f1aaed441506/cryptography-50.0.0-cp314-cp314t-win_amd64.whl", hash = "sha256:12b9c6996425c76ea6c457ace4f3073e715b8c545add07cd1a8f3a4f90691269", size = 3816291, upload-time = "2026-07-31T14:24:22.125Z" }, - { url = "https://files.pythonhosted.org/packages/03/37/73d005be173aff344af30e9fd2a576575cb2391a7101d9cd3842e1fa8cce/cryptography-50.0.0-cp39-abi3-macosx_11_0_arm64.whl", hash = "sha256:ccdc4a71a4dabae05de219404f9f4abc38e3b58422177ff93d0da05967dafa07", size = 4036009, upload-time = "2026-07-31T14:24:24.122Z" }, - { url = "https://files.pythonhosted.org/packages/ff/c6/7a6202a534e32103a285b7834a120869557fe198d51d7cfe59754c8bda9c/cryptography-50.0.0-cp39-abi3-manylinux2014_aarch64.manylinux_2_17_aarch64.whl", hash = "sha256:910e1d2668e7de9648f2bcee30e180db2a6b15c30f887d7c4c93ddf96e3992e3", size = 4745252, upload-time = "2026-07-31T14:24:26.118Z" }, - { url = "https://files.pythonhosted.org/packages/85/4f/0fa8c2f4428198f15d9ff8d63400e27afbf94ce833f6108da1eb3753f945/cryptography-50.0.0-cp39-abi3-manylinux2014_x86_64.manylinux_2_17_x86_64.whl", hash = "sha256:a91296cb61e8df6f86d0c19cc4068228da256bf59bf86049fbd821084565327f", size = 4728939, upload-time = "2026-07-31T14:24:27.994Z" }, - { url = "https://files.pythonhosted.org/packages/d1/63/54dd723490ba2dc09b299682c10b38db38f159728bcaae8c591b8af2f22d/cryptography-50.0.0-cp39-abi3-manylinux_2_28_aarch64.whl", hash = "sha256:e722f16708d854fe924790e051061f6704a472c3bac347b6fd88033ea8dd0dc5", size = 4748483, upload-time = "2026-07-31T14:24:30.254Z" }, - { url = "https://files.pythonhosted.org/packages/1d/dd/7c77d26285cc7f6991efce64a0f5b4f9383bfa5dd8c5033003eaf7db4cdb/cryptography-50.0.0-cp39-abi3-manylinux_2_28_ppc64le.whl", hash = "sha256:d764dcf130c428ef66786f866dd750f53182bc608813489915e9fc106bb0c82f", size = 5367599, upload-time = "2026-07-31T14:24:32.457Z" }, - { url = "https://files.pythonhosted.org/packages/46/c9/f60aed34c013f317f92817b6c171c2d22a78270fa41109bd4b08af26b194/cryptography-50.0.0-cp39-abi3-manylinux_2_28_x86_64.whl", hash = "sha256:105110f43a471dbd0060b9c9516cb8a6a79233631a04cc2ba16f28323ac6e025", size = 4762647, upload-time = "2026-07-31T14:24:34.599Z" }, - { url = "https://files.pythonhosted.org/packages/be/f3/f9a0173b139372c3a48ed98154b45cc6b9de17c789d5ab552e621c293609/cryptography-50.0.0-cp39-abi3-manylinux_2_31_armv7l.whl", hash = "sha256:828743d939e9629bc267b8e2d08d8bb67cd4319c771a33d4b18b22dd8fb7440a", size = 4385197, upload-time = "2026-07-31T14:24:36.647Z" }, - { url = "https://files.pythonhosted.org/packages/d8/36/83bb81f6e569bc38e1e4a7bc80f29b46bb9601920bc455fc8e888f5d5742/cryptography-50.0.0-cp39-abi3-manylinux_2_34_aarch64.whl", hash = "sha256:2a8183b489dc1f7f80f135780fadc1108f14b31b8a40411c7a5b17425f65f28b", size = 4748095, upload-time = "2026-07-31T14:24:39.493Z" }, - { url = "https://files.pythonhosted.org/packages/6b/16/d3008eff98c764979865834c3d386d4fd041b5f52e7f34fc29ac1a5eb515/cryptography-50.0.0-cp39-abi3-manylinux_2_34_ppc64le.whl", hash = "sha256:6e7d61120573a7f2cd94cc095f9e81f6967c61ccdf194285aa143ecec8e0b708", size = 5325948, upload-time = "2026-07-31T14:24:41.556Z" }, - { url = "https://files.pythonhosted.org/packages/9c/f8/d97f9603efda3888187bfdb893f26c41be4735c10631d05d284ee6b047c4/cryptography-50.0.0-cp39-abi3-manylinux_2_34_x86_64.whl", hash = "sha256:37fdb0d0111f1e2ff07139dfb79f1b49531f8e213c46f1163dd7642979b58c47", size = 4762400, upload-time = "2026-07-31T14:24:43.636Z" }, - { url = "https://files.pythonhosted.org/packages/64/a2/4615c8f7d81a00b1d6e6afe19f694e1543582349fb5f4076f6cb5dc36485/cryptography-50.0.0-cp39-abi3-musllinux_1_2_aarch64.whl", hash = "sha256:c87f62a3d3b9888ed0fdde100ec06aa61ca9cd44bad9057d1dff9a516b5f5bb9", size = 4878208, upload-time = "2026-07-31T14:24:45.522Z" }, - { url = "https://files.pythonhosted.org/packages/d2/1a/efcfb02f91407149a0dacffffab791f7e19bf6385f63b3666dc8b5e5c9c8/cryptography-50.0.0-cp39-abi3-musllinux_1_2_x86_64.whl", hash = "sha256:65c2c3add92b45fd0709db8594536aea39c2a67af0e27ffcf049c498501140b7", size = 5037050, upload-time = "2026-07-31T14:24:47.697Z" }, - { url = "https://files.pythonhosted.org/packages/57/30/4a22984d4f1bdfb8c054f07a92bc176b97a3134cc1d6c4b3bffb1f3688b4/cryptography-50.0.0-cp39-abi3-win_amd64.whl", hash = "sha256:d24fead1d4d076e1bfb006dcec392074a3cd8d7b4fc8a595aa64073b2b7a96ba", size = 3874135, upload-time = "2026-07-31T14:24:50.085Z" }, +sdist = { url = "https://files.pythonhosted.org/packages/bb/ad/5d6702db60b1e40b41ef513b6967ff5848f307d50f8449baf1634f5908f1/cryptography-50.0.1.tar.gz", hash = "sha256:5dd9bda1c12b4162f6ff568eeb5e0ff956c28d14406e875cfe8a63a2d414ff20", size = 880381, upload-time = "2026-08-25T19:45:45.499Z" } +wheels = [ + { url = "https://files.pythonhosted.org/packages/ba/19/797e2aaac9df6a66f1550f49979dc1b1e39ecd2077501c30efa81e8d5d67/cryptography-50.0.1-cp311-abi3-macosx_11_0_arm64.whl", hash = "sha256:b8f852c65863251b9e3a1b8c150ce21e59b522dbb6a7d4bc80e680d38388e986", size = 4010153, upload-time = "2026-08-25T19:44:03.155Z" }, + { url = "https://files.pythonhosted.org/packages/90/34/9ce9a62ed9dc82ca9fd6a34445b6904af56e5f38b3eae2ed32e49c36053d/cryptography-50.0.1-cp311-abi3-manylinux2014_aarch64.manylinux_2_17_aarch64.whl", hash = "sha256:53e279950892dc102c6b4e52af03ae5ea92fac572a1ddab78ca73a997f62b69f", size = 4723133, upload-time = "2026-08-25T19:44:05.461Z" }, + { url = "https://files.pythonhosted.org/packages/57/26/e6d4fc8512a51a5f9ee7bfdbfb853bce1197087df40c9ad993ad370b846f/cryptography-50.0.1-cp311-abi3-manylinux2014_x86_64.manylinux_2_17_x86_64.whl", hash = "sha256:ff838d62ec1bfce4f9ba7fa16f4a7b554cd8d0c299e6be37502161a660c84eef", size = 4712478, upload-time = "2026-08-25T19:44:07.375Z" }, + { url = "https://files.pythonhosted.org/packages/e6/de/d3cdc2815697aae84126cbd6a030ca7b6b452e28a88b501b836bd3aa7a86/cryptography-50.0.1-cp311-abi3-manylinux_2_28_aarch64.whl", hash = "sha256:e74591e283fe6eb956416c929eb58262a719fe0311fd9054c62c3350ed8760d8", size = 4730726, upload-time = "2026-08-25T19:44:09.294Z" }, + { url = "https://files.pythonhosted.org/packages/55/32/38c0d344b98c06d34b5df8946565a9c0d6dbf32c8e0730a7f05f0a3c6cab/cryptography-50.0.1-cp311-abi3-manylinux_2_28_ppc64le.whl", hash = "sha256:5fe002589592ed749ce77fe0695fcbd3500dd61d7d6db5858a7544c612fa8e45", size = 5353524, upload-time = "2026-08-25T19:44:11.96Z" }, + { url = "https://files.pythonhosted.org/packages/e1/1b/82f0f0d8858d4432be1af790477edf62aef90324041aa07c57e57bef1af7/cryptography-50.0.1-cp311-abi3-manylinux_2_28_x86_64.whl", hash = "sha256:51593d180cf6d179bde5c5d065bed81386b1f381656ae7d042b7ffc87a9895ad", size = 4746720, upload-time = "2026-08-25T19:44:14.051Z" }, + { url = "https://files.pythonhosted.org/packages/29/ba/042ca458b8c64348c768284b5d23e69b92ed53d057ab779fee628564676d/cryptography-50.0.1-cp311-abi3-manylinux_2_31_armv7l.whl", hash = "sha256:359e62deae718bce96170e223fdcb6357e4fbd3bb7a3a75f4430763532560e49", size = 4361866, upload-time = "2026-08-25T19:44:16.167Z" }, + { url = "https://files.pythonhosted.org/packages/39/3b/e96c1ef71edef71057c7e3c3d982ce8fda554e0c52d0cc19c18845cde3eb/cryptography-50.0.1-cp311-abi3-manylinux_2_34_aarch64.whl", hash = "sha256:e2ca8fd1b6b4b82a1c4cb02841d0837e3c12336c2e24b520ab8ab3b969733d8f", size = 4730028, upload-time = "2026-08-25T19:44:18.085Z" }, + { url = "https://files.pythonhosted.org/packages/e3/38/45abd72ef63f2e7d0754a6cacf97bd8b69512ace7f6130d24c39ece65da2/cryptography-50.0.1-cp311-abi3-manylinux_2_34_ppc64le.whl", hash = "sha256:76de83fbd91ac49c0feaaa983d0748fd7a53176afac5fb3bf7478d244f0eb527", size = 5308405, upload-time = "2026-08-25T19:44:20.197Z" }, + { url = "https://files.pythonhosted.org/packages/85/66/6ccca4722987ddedaa7fc9c3f4708af7431f5535666c174350830888c6b7/cryptography-50.0.1-cp311-abi3-manylinux_2_34_x86_64.whl", hash = "sha256:51afcfceb15597cf2635068e4ac9a56b2abde622edde17f37d85fd7b5306497a", size = 4746230, upload-time = "2026-08-25T19:44:22.376Z" }, + { url = "https://files.pythonhosted.org/packages/13/0e/b1f92e013228111413f2e6743948b80bc24dfd3c1b87ba98ceea16f5df89/cryptography-50.0.1-cp311-abi3-musllinux_1_2_aarch64.whl", hash = "sha256:be224a65493ec5b74a158ff22a5522ce4a5ca1e543c647a3a4730d4a09e5f959", size = 4862596, upload-time = "2026-08-25T19:44:24.472Z" }, + { url = "https://files.pythonhosted.org/packages/7e/22/c3654cccc856e9d682817b04ac3ee79731cb09ca6f95996a95c904de2883/cryptography-50.0.1-cp311-abi3-musllinux_1_2_x86_64.whl", hash = "sha256:9ebcdd5519be9b652a46f507817a74591774fc3d6923ac364e4dfa64e36b291b", size = 5014082, upload-time = "2026-08-25T19:44:26.709Z" }, + { url = "https://files.pythonhosted.org/packages/42/8b/cb12b1b60c91b074ca6bf0fdd59aa8f10d8bc5f73af8faece86ef0421b37/cryptography-50.0.1-cp311-abi3-win_amd64.whl", hash = "sha256:aed8db4f6d71c51efb89530e12d9464e7bf2923d46c3205dc794a2a93f8c0648", size = 3842826, upload-time = "2026-08-25T19:44:28.784Z" }, + { url = "https://files.pythonhosted.org/packages/5b/f0/424cb557d99aa86ac55da5e2add02e2882e44047b6264f93ade1b975a993/cryptography-50.0.1-cp314-cp314t-macosx_11_0_arm64.whl", hash = "sha256:30a125032e5642a21ff816e021152bd4e7e94f03eff3f4b7fca41cd22bc3110f", size = 3973525, upload-time = "2026-08-25T19:44:30.7Z" }, + { url = "https://files.pythonhosted.org/packages/4d/72/3a2711d967977ab5fc80b782837c7e8d1ac7445e764c20c381a265c57ef3/cryptography-50.0.1-cp314-cp314t-manylinux2014_aarch64.manylinux_2_17_aarch64.whl", hash = "sha256:a0b1a59e3a089064a0ec309e9428c8e3ae4e161419d20ac33600767e83fc658a", size = 4708817, upload-time = "2026-08-25T19:44:32.773Z" }, + { url = "https://files.pythonhosted.org/packages/b4/f2/bb1f56e10815b789df0b409a69fa4992ff3d3fef9c72747f4a6b26fed38e/cryptography-50.0.1-cp314-cp314t-manylinux2014_x86_64.manylinux_2_17_x86_64.whl", hash = "sha256:8921d58f426793c5f1b47f0b59575780de9a095214958d0eb37d909593db8367", size = 4697300, upload-time = "2026-08-25T19:44:35.144Z" }, + { url = "https://files.pythonhosted.org/packages/08/bd/ed5396be499ffcf8807a585bfe38b71a1fbdd1c342b4f9b6d0ef5162a946/cryptography-50.0.1-cp314-cp314t-manylinux_2_28_aarch64.whl", hash = "sha256:a8f40ea47330e71b594a7e246898f93177c259490c63183dbaf9e571d71ed9a5", size = 4716039, upload-time = "2026-08-25T19:44:37.192Z" }, + { url = "https://files.pythonhosted.org/packages/f6/6e/1cf405c5c8e8df7545378048e954792f00b7f2367af8863ce8b8f3e10607/cryptography-50.0.1-cp314-cp314t-manylinux_2_28_ppc64le.whl", hash = "sha256:a255449073358275b64b67d3f595f268bbef70e72b6edb65e0c70c735bf739c9", size = 5332388, upload-time = "2026-08-25T19:44:39.16Z" }, + { url = "https://files.pythonhosted.org/packages/47/92/b4317e8c32c4f47b062f5398bd79106b220a124546f42be83bf32b761e2a/cryptography-50.0.1-cp314-cp314t-manylinux_2_28_x86_64.whl", hash = "sha256:8df2de9102026855887e4587084f6eabd80ed0f345b8ad8a7ac27ab9bf4723e0", size = 4730293, upload-time = "2026-08-25T19:44:41.298Z" }, + { url = "https://files.pythonhosted.org/packages/39/0d/a1e7633e2c744d0f2983320a27e924ef2264c79c56e1a58d5fb0a1cfd413/cryptography-50.0.1-cp314-cp314t-manylinux_2_31_armv7l.whl", hash = "sha256:ac02b07824d4d1001bd4367599f839c19cb171924c796e52c23508ac14c2c0cc", size = 4346031, upload-time = "2026-08-25T19:44:43.245Z" }, + { url = "https://files.pythonhosted.org/packages/88/dd/b215616f9bab3fc18510c78a4e5c9f362d77838503c363dc747c7d4f5c6f/cryptography-50.0.1-cp314-cp314t-manylinux_2_34_aarch64.whl", hash = "sha256:cbf74a81765ee67413503ca6e26dcc4f6f5a519822436cc0a1b97aab6c1b8a17", size = 4715344, upload-time = "2026-08-25T19:44:45.291Z" }, + { url = "https://files.pythonhosted.org/packages/b1/1b/ec3ebd31741d0e963612c4fe43caa39341b9b1e031e469820e42e4c83918/cryptography-50.0.1-cp314-cp314t-manylinux_2_34_ppc64le.whl", hash = "sha256:16c5ecd954b3330ebfb6605eca4fd952da8bef376551d5cc264534e3770a9ee6", size = 5287201, upload-time = "2026-08-25T19:44:47.297Z" }, + { url = "https://files.pythonhosted.org/packages/1a/01/0127d11a762b31a9ee0221894f540318761783f3fdc4bc5d057698caebd5/cryptography-50.0.1-cp314-cp314t-manylinux_2_34_x86_64.whl", hash = "sha256:79bf008d1f9af6071c797ad133e39915dfee7614f18f18f4db9072eb715064a3", size = 4730023, upload-time = "2026-08-25T19:44:49.435Z" }, + { url = "https://files.pythonhosted.org/packages/9e/b9/e7425ebfb599241a0c1d7000f1b466c3062da66c19d9525031315dff7213/cryptography-50.0.1-cp314-cp314t-musllinux_1_2_aarch64.whl", hash = "sha256:330fbb252391c596f1ae42c5754449dc924e6ad012dca8efe0d703f9f2d12ec6", size = 4847362, upload-time = "2026-08-25T19:44:51.94Z" }, + { url = "https://files.pythonhosted.org/packages/2d/fd/60d0ddf4defa12e482c9d5e0f554384d6e8ab25341fd15f060028fd92e6a/cryptography-50.0.1-cp314-cp314t-musllinux_1_2_x86_64.whl", hash = "sha256:42be3bb70596b3abe4ac097b75be223e8b3ab614a0e5de068e3dcc54d71d6149", size = 4999247, upload-time = "2026-08-25T19:44:53.876Z" }, + { url = "https://files.pythonhosted.org/packages/4d/56/bc4f2b209e766c93372cfcd59b781a0b2b59700f62a969580415b699c2b2/cryptography-50.0.1-cp314-cp314t-win_amd64.whl", hash = "sha256:f74455bb086a85d5e81246412602aaa97ed095e504cd40dd261ef50be42205bf", size = 3825806, upload-time = "2026-08-25T19:44:56.209Z" }, + { url = "https://files.pythonhosted.org/packages/84/a9/ee16a903f13755e914d1eecc482fe64d1f10761c3960e5d8fa6837377aff/cryptography-50.0.1-cp39-abi3-macosx_11_0_arm64.whl", hash = "sha256:ca83d00d9e69cd5eb63f2e69c3a5a59e0cecae5ae14c6ae0b35830fe3b37bad0", size = 4035307, upload-time = "2026-08-25T19:44:58.305Z" }, + { url = "https://files.pythonhosted.org/packages/5e/a5/9ec7e81e8526c0d7a387d73386b2daed3f39e10d81a85930bd1b6bfba65c/cryptography-50.0.1-cp39-abi3-manylinux2014_aarch64.manylinux_2_17_aarch64.whl", hash = "sha256:05ba322c4da95b262a212c345af888ef2c37c88c0509756ea00a0e6d68850f23", size = 4751900, upload-time = "2026-08-25T19:45:00.401Z" }, + { url = "https://files.pythonhosted.org/packages/7e/3c/0e77bd5ffcf078e9dd27d3074aad6c030d9b10d0bf69329d573c927a188c/cryptography-50.0.1-cp39-abi3-manylinux2014_x86_64.manylinux_2_17_x86_64.whl", hash = "sha256:e22dfed744bd4002e909464cb23d2f0b05c6f3113a79ef2e9864a53db737c733", size = 4738357, upload-time = "2026-08-25T19:45:02.786Z" }, + { url = "https://files.pythonhosted.org/packages/27/3a/3c5f80daa4dcd47323c7af8a2fcb90de27a33564d4fcac69846c0972691a/cryptography-50.0.1-cp39-abi3-manylinux_2_28_aarch64.whl", hash = "sha256:4c4188f7c0cf655be5c06342b817ed0f9595b69ffa2b12026e5353eed29dea88", size = 4758474, upload-time = "2026-08-25T19:45:04.889Z" }, + { url = "https://files.pythonhosted.org/packages/6e/2b/214cf0cf93db9628c3c20c896b229f327f6fb1b20e4b3743d8ad3f00af8b/cryptography-50.0.1-cp39-abi3-manylinux_2_28_ppc64le.whl", hash = "sha256:2ebbfb0f1fed745e91796e3e1080a1440423fdae8ece1b995a1d80883a409054", size = 5375862, upload-time = "2026-08-25T19:45:07.163Z" }, + { url = "https://files.pythonhosted.org/packages/d6/51/3f9701867a46b6c1740c9b52fc4d3bed6cbdcfedcc9b6e64305c07f39cff/cryptography-50.0.1-cp39-abi3-manylinux_2_28_x86_64.whl", hash = "sha256:407fe2b6db00939c05c0e945e9914238f2f0a430974839429dafc82b1ee6bee5", size = 4772942, upload-time = "2026-08-25T19:45:09.396Z" }, + { url = "https://files.pythonhosted.org/packages/0d/5c/13ea642e08e2544d0f5396122055f4820cfacb3203562197b5967125ea97/cryptography-50.0.1-cp39-abi3-manylinux_2_31_armv7l.whl", hash = "sha256:2b34d76a652ea2b6faf777c35df230c5637842cd904e04f16230c3f9f03e4361", size = 4383347, upload-time = "2026-08-25T19:45:11.659Z" }, + { url = "https://files.pythonhosted.org/packages/84/d5/7d1fe1cb93f91c428093ff234e128c89ba8ea61a6f26aab406081f9b996e/cryptography-50.0.1-cp39-abi3-manylinux_2_34_aarch64.whl", hash = "sha256:01f41478cf33fc605a6a089cd56d28b45c6c0b45a1928b61797f2621a04bac71", size = 4758050, upload-time = "2026-08-25T19:45:13.745Z" }, + { url = "https://files.pythonhosted.org/packages/dd/04/557fc5ead96a829e0bc812a3b9dc4a52a2f27e4f7f5950da7ff27653a805/cryptography-50.0.1-cp39-abi3-manylinux_2_34_ppc64le.whl", hash = "sha256:fc3ed7ebd2a8c96f5b166de0ab9b624996bef3b07bbeb19364dfb78222c22c80", size = 5332955, upload-time = "2026-08-25T19:45:16.193Z" }, + { url = "https://files.pythonhosted.org/packages/8c/eb/5d7124083e8d8cda8f5b348f544b71ad6f707ad63193758ef4d8e569da02/cryptography-50.0.1-cp39-abi3-manylinux_2_34_x86_64.whl", hash = "sha256:9dde0a357190eb3b1da1bb9ab750e9c85cba82ca5977aa0836cbb94e92611239", size = 4772694, upload-time = "2026-08-25T19:45:18.315Z" }, + { url = "https://files.pythonhosted.org/packages/63/8e/f1f955e0921dd2b6d22eae7e8d24a4c4b638d10735ffbf6a71f99eb0fcb8/cryptography-50.0.1-cp39-abi3-musllinux_1_2_aarch64.whl", hash = "sha256:fd3718b960d0b5dd213cdf03f3bcb7000e69dda0de8b956061947ff6bcff5558", size = 4888413, upload-time = "2026-08-25T19:45:20.4Z" }, + { url = "https://files.pythonhosted.org/packages/1f/ab/89e2b798d2c3925f82e2bb72d5979f3d2f6da2dd22ef4a8cd8b70d920039/cryptography-50.0.1-cp39-abi3-musllinux_1_2_x86_64.whl", hash = "sha256:2a93d05e34d5f67fba6f891fe85d929999baa7195e853923ea6d7576c9e68c5e", size = 5044355, upload-time = "2026-08-25T19:45:22.353Z" }, + { url = "https://files.pythonhosted.org/packages/99/89/87ef49ffe383ef4e147d27b7bf2088fb0b54ea409dd87b5a89442e5828a5/cryptography-50.0.1-cp39-abi3-win_amd64.whl", hash = "sha256:55d16b1ef3ee0958d893a977b19777887e546c9954ea81b200c3301a864013f2", size = 3875429, upload-time = "2026-08-25T19:45:24.418Z" }, ] [[package]] @@ -252,31 +261,6 @@ wheels = [ { url = "https://files.pythonhosted.org/packages/64/96/d967ca440d6a8e3861120f51985d8e5aec79b9a8bdda16041206adfe7adc/django_extensions-4.1-py3-none-any.whl", hash = "sha256:0699a7af28f2523bf8db309a80278519362cd4b6e1fd0a8cd4bf063e1e023336", size = 232980, upload-time = "2025-04-11T01:15:37.701Z" }, ] -[[package]] -name = "django-pghistory" -version = "3.9.2" -source = { registry = "https://pypi.org/simple" } -dependencies = [ - { name = "django" }, - { name = "django-pgtrigger" }, -] -sdist = { url = "https://files.pythonhosted.org/packages/9e/7e/594930ce9cc8ddd9a586ef126f745d9516e307ef48a35a8566da54ca53e8/django_pghistory-3.9.2.tar.gz", hash = "sha256:1d07b75b61501a209330e7fb43fad2b2482f7f0399a36fa91aa7600a03025921", size = 31401, upload-time = "2026-02-17T16:08:21.304Z" } -wheels = [ - { url = "https://files.pythonhosted.org/packages/e9/5f/58a0551e951e4b67063e35d3393aeaab2f77bca24b0706ffcd977474e34c/django_pghistory-3.9.2-py3-none-any.whl", hash = "sha256:1623633af429837567dd11469823b9bb3c3f908cc117d60f097d23f3f0622fa2", size = 39929, upload-time = "2026-02-17T16:08:19.894Z" }, -] - -[[package]] -name = "django-pgtrigger" -version = "4.17.0" -source = { registry = "https://pypi.org/simple" } -dependencies = [ - { name = "django" }, -] -sdist = { url = "https://files.pythonhosted.org/packages/45/3d/ea55015e2e2a8e2230c6a056768512a9660573f8926f87671f166d455936/django_pgtrigger-4.17.0.tar.gz", hash = "sha256:55d297a756b5b6a8e0c533d3323fda1589c699e7d14aa3fff7fa7d774c46363c", size = 32200, upload-time = "2025-12-04T15:46:06.587Z" } -wheels = [ - { url = "https://files.pythonhosted.org/packages/91/47/13c0c23c134cd0f0b0addfbc3ef1477f90d891184d21689f9074b794b00c/django_pgtrigger-4.17.0-py3-none-any.whl", hash = "sha256:06048cdeb57e20987fd0bf7dd673512a1413a08868eea248d70dbb970e967175", size = 36326, upload-time = "2025-12-04T15:46:05.427Z" }, -] - [[package]] name = "django-tracking2" version = "0.5.1" @@ -307,6 +291,15 @@ wheels = [ { url = "https://files.pythonhosted.org/packages/de/a7/f76514cc40ad6234098ecdebda08732d75964776c51a42845b7da10649e2/idna-3.17-py3-none-any.whl", hash = "sha256:466e48829084efe2548012b855df21540b96f2e20e51bd124c851536556a592c", size = 65316, upload-time = "2026-05-28T14:32:37.035Z" }, ] +[[package]] +name = "iniconfig" +version = "2.3.0" +source = { registry = "https://pypi.org/simple" } +sdist = { url = "https://files.pythonhosted.org/packages/72/34/14ca021ce8e5dfedc35312d08ba8bf51fdd999c576889fc2c24cb97f4f10/iniconfig-2.3.0.tar.gz", hash = "sha256:c76315c77db068650d49c5b56314774a7804df16fee4402c1f19d6d15d8c4730", size = 20503, upload-time = "2025-10-18T21:55:43.219Z" } +wheels = [ + { url = "https://files.pythonhosted.org/packages/cb/b1/3846dd7f199d53cb17f49cba7e651e9ce294d8497c8c150530ed11865bb8/iniconfig-2.3.0-py3-none-any.whl", hash = "sha256:f631c04d2c48c52b84d0d0549c99ff3859c98df65b3101406327ecc7d53fbf12", size = 7484, upload-time = "2025-10-18T21:55:41.639Z" }, +] + [[package]] name = "natsort" version = "8.4.0" @@ -316,6 +309,24 @@ wheels = [ { url = "https://files.pythonhosted.org/packages/ef/82/7a9d0550484a62c6da82858ee9419f3dd1ccc9aa1c26a1e43da3ecd20b0d/natsort-8.4.0-py3-none-any.whl", hash = "sha256:4732914fb471f56b5cce04d7bae6f164a592c7712e1c85f9ef585e197299521c", size = 38268, upload-time = "2023-06-20T04:17:17.522Z" }, ] +[[package]] +name = "packaging" +version = "26.2" +source = { registry = "https://pypi.org/simple" } +sdist = { url = "https://files.pythonhosted.org/packages/d7/f1/e7a6dd94a8d4a5626c03e4e99c87f241ba9e350cd9e6d75123f992427270/packaging-26.2.tar.gz", hash = "sha256:ff452ff5a3e828ce110190feff1178bb1f2ea2281fa2075aadb987c2fb221661", size = 228134, upload-time = "2026-04-24T20:15:23.917Z" } +wheels = [ + { url = "https://files.pythonhosted.org/packages/df/b2/87e62e8c3e2f4b32e5fe99e0b86d576da1312593b39f47d8ceef365e95ed/packaging-26.2-py3-none-any.whl", hash = "sha256:5fc45236b9446107ff2415ce77c807cee2862cb6fac22b8a73826d0693b0980e", size = 100195, upload-time = "2026-04-24T20:15:22.081Z" }, +] + +[[package]] +name = "pluggy" +version = "1.6.0" +source = { registry = "https://pypi.org/simple" } +sdist = { url = "https://files.pythonhosted.org/packages/f9/e2/3e91f31a7d2b083fe6ef3fa267035b518369d9511ffab804f839851d2779/pluggy-1.6.0.tar.gz", hash = "sha256:7dcc130b76258d33b90f61b658791dede3486c3e6bfb003ee5c9bfb396dd22f3", size = 69412, upload-time = "2025-05-15T12:30:07.975Z" } +wheels = [ + { url = "https://files.pythonhosted.org/packages/54/20/4d324d65cc6d9205fabedc306948156824eb9f0ee1633355a8f7ec5c66bf/pluggy-1.6.0-py3-none-any.whl", hash = "sha256:e920276dd6813095e9377c0bc5566d94c932c33b27a3e3945d8389c374dd4746", size = 20538, upload-time = "2025-05-15T12:30:06.134Z" }, +] + [[package]] name = "psycopg" version = "3.3.4" @@ -371,6 +382,15 @@ wheels = [ { url = "https://files.pythonhosted.org/packages/0c/c3/44f3fbbfa403ea2a7c779186dc20772604442dde72947e7d01069cbe98e3/pycparser-3.0-py3-none-any.whl", hash = "sha256:b727414169a36b7d524c1c3e31839a521725078d7b2ff038656844266160a992", size = 48172, upload-time = "2026-01-21T14:26:50.693Z" }, ] +[[package]] +name = "pygments" +version = "2.20.0" +source = { registry = "https://pypi.org/simple" } +sdist = { url = "https://files.pythonhosted.org/packages/c3/b2/bc9c9196916376152d655522fdcebac55e66de6603a76a02bca1b6414f6c/pygments-2.20.0.tar.gz", hash = "sha256:6757cd03768053ff99f3039c1a36d6c0aa0b263438fcab17520b30a303a82b5f", size = 4955991, upload-time = "2026-03-29T13:29:33.898Z" } +wheels = [ + { url = "https://files.pythonhosted.org/packages/f4/7e/a72dd26f3b0f4f2bf1dd8923c85f7ceb43172af56d63c7383eb62b332364/pygments-2.20.0-py3-none-any.whl", hash = "sha256:81a9e26dd42fd28a23a2d169d86d7ac03b46e2f8b59ed4698fb4785f946d0176", size = 1231151, upload-time = "2026-03-29T13:29:30.038Z" }, +] + [[package]] name = "pyjwt" version = "2.13.0" @@ -389,6 +409,22 @@ wheels = [ { url = "https://files.pythonhosted.org/packages/7c/4c/ad33b92b9864cbde84f259d5df035a6447f91891f5be77788e2a3892bce3/pymysql-1.1.2-py3-none-any.whl", hash = "sha256:e6b1d89711dd51f8f74b1631fe08f039e7d76cf67a42a323d3178f0f25762ed9", size = 45300, upload-time = "2025-08-24T12:55:53.394Z" }, ] +[[package]] +name = "pytest" +version = "9.0.3" +source = { registry = "https://pypi.org/simple" } +dependencies = [ + { name = "colorama", marker = "sys_platform == 'win32'" }, + { name = "iniconfig" }, + { name = "packaging" }, + { name = "pluggy" }, + { name = "pygments" }, +] +sdist = { url = "https://files.pythonhosted.org/packages/7d/0d/549bd94f1a0a402dc8cf64563a117c0f3765662e2e668477624baeec44d5/pytest-9.0.3.tar.gz", hash = "sha256:b86ada508af81d19edeb213c681b1d48246c1a91d304c6c81a427674c17eb91c", size = 1572165, upload-time = "2026-04-07T17:16:18.027Z" } +wheels = [ + { url = "https://files.pythonhosted.org/packages/d4/24/a372aaf5c9b7208e7112038812994107bc65a84cd00e0354a88c2c77a617/pytest-9.0.3-py3-none-any.whl", hash = "sha256:2c5efc453d45394fdd706ade797c0a81091eccd1d6e4bccfcd476e2b8e0ab5d9", size = 375249, upload-time = "2026-04-07T17:16:16.13Z" }, +] + [[package]] name = "python-dateutil" version = "2.9.0.post0" @@ -443,13 +479,22 @@ wheels = [ { url = "https://files.pythonhosted.org/packages/d9/50/f00935da0ec7cbf325f8dc4f772ae46fbc7b672dd62876e73f0a94adda57/sqlparse-0.6.0-py3-none-any.whl", hash = "sha256:b861c0288ce2fa56209a9a6412d2e066ac664b3873b89c26c9d8415e8e32996f", size = 50070, upload-time = "2026-08-13T19:16:04.062Z" }, ] +[[package]] +name = "tenacity" +version = "9.1.4" +source = { registry = "https://pypi.org/simple" } +sdist = { url = "https://files.pythonhosted.org/packages/47/c6/ee486fd809e357697ee8a44d3d69222b344920433d3b6666ccd9b374630c/tenacity-9.1.4.tar.gz", hash = "sha256:adb31d4c263f2bd041081ab33b498309a57c77f9acf2db65aadf0898179cf93a", size = 49413, upload-time = "2026-02-07T10:45:33.841Z" } +wheels = [ + { url = "https://files.pythonhosted.org/packages/d7/c1/eb8f9debc45d3b7918a32ab756658a0904732f75e555402972246b0b8e71/tenacity-9.1.4-py3-none-any.whl", hash = "sha256:6095a360c919085f28c6527de529e76a06ad89b23659fa881ae0649b867a9d55", size = 28926, upload-time = "2026-02-07T10:45:32.24Z" }, +] + [[package]] name = "tzdata" -version = "2026.1" +version = "2026.2" source = { registry = "https://pypi.org/simple" } -sdist = { url = "https://files.pythonhosted.org/packages/19/f5/cd531b2d15a671a40c0f66cf06bc3570a12cd56eef98960068ebbad1bf5a/tzdata-2026.1.tar.gz", hash = "sha256:67658a1903c75917309e753fdc349ac0efd8c27db7a0cb406a25be4840f87f98", size = 197639, upload-time = "2026-04-03T11:25:22.002Z" } +sdist = { url = "https://files.pythonhosted.org/packages/ba/19/1b9b0e29f30c6d35cb345486df41110984ea67ae69dddbc0e8a100999493/tzdata-2026.2.tar.gz", hash = "sha256:9173fde7d80d9018e02a662e168e5a2d04f87c41ea174b139fbef642eda62d10", size = 198254, upload-time = "2026-04-24T15:22:08.651Z" } wheels = [ - { url = "https://files.pythonhosted.org/packages/b0/70/d460bd685a170790ec89317e9bd33047988e4bce507b831f5db771e142de/tzdata-2026.1-py2.py3-none-any.whl", hash = "sha256:4b1d2be7ac37ceafd7327b961aa3a54e467efbdb563a23655fbfe0d39cfc42a9", size = 348952, upload-time = "2026-04-03T11:25:20.313Z" }, + { url = "https://files.pythonhosted.org/packages/ce/e4/dccd7f47c4b64213ac01ef921a1337ee6e30e8c6466046018326977efd95/tzdata-2026.2-py2.py3-none-any.whl", hash = "sha256:bbe9af844f658da81a5f95019480da3a89415801f6cc966806612cc7169bffe7", size = 349321, upload-time = "2026-04-24T15:22:05.876Z" }, ] [[package]] @@ -473,7 +518,6 @@ dependencies = [ { name = "django-auth-adfs" }, { name = "django-cors-headers" }, { name = "django-extensions" }, - { name = "django-pghistory" }, { name = "django-tracking2" }, { name = "djangorestframework" }, { name = "idna" }, @@ -483,7 +527,15 @@ dependencies = [ { name = "pymysql" }, { name = "python-dotenv" }, { name = "sqlparse" }, + { name = "tenacity" }, { name = "urllib3" }, + { name = "vcfpy" }, +] + +[package.dev-dependencies] +dev = [ + { name = "pytest" }, + { name = "watchdog" }, ] [package.metadata] @@ -495,7 +547,6 @@ requires-dist = [ { name = "django-auth-adfs", specifier = "==1.16" }, { name = "django-cors-headers", specifier = ">=4.3.1" }, { name = "django-extensions", specifier = ">=3.2.3" }, - { name = "django-pghistory", specifier = ">=3.2.0" }, { name = "django-tracking2", specifier = ">=0.5.1" }, { name = "djangorestframework", specifier = ">=3.17.1" }, { name = "idna", specifier = ">=3.15" }, @@ -503,7 +554,45 @@ requires-dist = [ { name = "psycopg", extras = ["binary"], specifier = ">=3.3.4" }, { name = "pyjwt", specifier = ">=2.13.0" }, { name = "pymysql", specifier = ">=1.1.2" }, - { name = "python-dotenv", specifier = ">=1.2.2" }, + { name = "python-dotenv", specifier = ">=1.0.1" }, { name = "sqlparse", specifier = ">=0.6.0" }, + { name = "tenacity", specifier = ">=9.1.4" }, { name = "urllib3", specifier = "==2.7.0" }, + { name = "vcfpy", specifier = ">=0.14.2" }, +] + +[package.metadata.requires-dev] +dev = [ + { name = "pytest", specifier = ">=9.0.2" }, + { name = "watchdog", specifier = ">=6.0.0" }, +] + +[[package]] +name = "vcfpy" +version = "0.14.2" +source = { registry = "https://pypi.org/simple" } +sdist = { url = "https://files.pythonhosted.org/packages/18/00/1411d5743738f8dddff65c71d099a006eb627e2cc8b82d830ebf06a8677d/vcfpy-0.14.2.tar.gz", hash = "sha256:89786ed8f49013c2a6fd4add57a1590a43140c3fac4628da0f27e92d50bfd891", size = 40348, upload-time = "2025-10-02T06:37:54.672Z" } +wheels = [ + { url = "https://files.pythonhosted.org/packages/4e/32/703c6e20edf3f707c5baeb2b3f44280fabfadcf1f6667aa2f9feb12516f9/vcfpy-0.14.2-py3-none-any.whl", hash = "sha256:532ea951514ceb1f6a873185d65f7b43fa83130126ebd951621b4dae79c48774", size = 43787, upload-time = "2025-10-02T06:37:53.496Z" }, +] + +[[package]] +name = "watchdog" +version = "6.0.0" +source = { registry = "https://pypi.org/simple" } +sdist = { url = "https://files.pythonhosted.org/packages/db/7d/7f3d619e951c88ed75c6037b246ddcf2d322812ee8ea189be89511721d54/watchdog-6.0.0.tar.gz", hash = "sha256:9ddf7c82fda3ae8e24decda1338ede66e1c99883db93711d8fb941eaa2d8c282", size = 131220, upload-time = "2024-11-01T14:07:13.037Z" } +wheels = [ + { url = "https://files.pythonhosted.org/packages/68/98/b0345cabdce2041a01293ba483333582891a3bd5769b08eceb0d406056ef/watchdog-6.0.0-cp313-cp313-macosx_10_13_universal2.whl", hash = "sha256:490ab2ef84f11129844c23fb14ecf30ef3d8a6abafd3754a6f75ca1e6654136c", size = 96480, upload-time = "2024-11-01T14:06:42.952Z" }, + { url = "https://files.pythonhosted.org/packages/85/83/cdf13902c626b28eedef7ec4f10745c52aad8a8fe7eb04ed7b1f111ca20e/watchdog-6.0.0-cp313-cp313-macosx_10_13_x86_64.whl", hash = "sha256:76aae96b00ae814b181bb25b1b98076d5fc84e8a53cd8885a318b42b6d3a5134", size = 88451, upload-time = "2024-11-01T14:06:45.084Z" }, + { url = "https://files.pythonhosted.org/packages/fe/c4/225c87bae08c8b9ec99030cd48ae9c4eca050a59bf5c2255853e18c87b50/watchdog-6.0.0-cp313-cp313-macosx_11_0_arm64.whl", hash = "sha256:a175f755fc2279e0b7312c0035d52e27211a5bc39719dd529625b1930917345b", size = 89057, upload-time = "2024-11-01T14:06:47.324Z" }, + { url = "https://files.pythonhosted.org/packages/a9/c7/ca4bf3e518cb57a686b2feb4f55a1892fd9a3dd13f470fca14e00f80ea36/watchdog-6.0.0-py3-none-manylinux2014_aarch64.whl", hash = "sha256:7607498efa04a3542ae3e05e64da8202e58159aa1fa4acddf7678d34a35d4f13", size = 79079, upload-time = "2024-11-01T14:06:59.472Z" }, + { url = "https://files.pythonhosted.org/packages/5c/51/d46dc9332f9a647593c947b4b88e2381c8dfc0942d15b8edc0310fa4abb1/watchdog-6.0.0-py3-none-manylinux2014_armv7l.whl", hash = "sha256:9041567ee8953024c83343288ccc458fd0a2d811d6a0fd68c4c22609e3490379", size = 79078, upload-time = "2024-11-01T14:07:01.431Z" }, + { url = "https://files.pythonhosted.org/packages/d4/57/04edbf5e169cd318d5f07b4766fee38e825d64b6913ca157ca32d1a42267/watchdog-6.0.0-py3-none-manylinux2014_i686.whl", hash = "sha256:82dc3e3143c7e38ec49d61af98d6558288c415eac98486a5c581726e0737c00e", size = 79076, upload-time = "2024-11-01T14:07:02.568Z" }, + { url = "https://files.pythonhosted.org/packages/ab/cc/da8422b300e13cb187d2203f20b9253e91058aaf7db65b74142013478e66/watchdog-6.0.0-py3-none-manylinux2014_ppc64.whl", hash = "sha256:212ac9b8bf1161dc91bd09c048048a95ca3a4c4f5e5d4a7d1b1a7d5752a7f96f", size = 79077, upload-time = "2024-11-01T14:07:03.893Z" }, + { url = "https://files.pythonhosted.org/packages/2c/3b/b8964e04ae1a025c44ba8e4291f86e97fac443bca31de8bd98d3263d2fcf/watchdog-6.0.0-py3-none-manylinux2014_ppc64le.whl", hash = "sha256:e3df4cbb9a450c6d49318f6d14f4bbc80d763fa587ba46ec86f99f9e6876bb26", size = 79078, upload-time = "2024-11-01T14:07:05.189Z" }, + { url = "https://files.pythonhosted.org/packages/62/ae/a696eb424bedff7407801c257d4b1afda455fe40821a2be430e173660e81/watchdog-6.0.0-py3-none-manylinux2014_s390x.whl", hash = "sha256:2cce7cfc2008eb51feb6aab51251fd79b85d9894e98ba847408f662b3395ca3c", size = 79077, upload-time = "2024-11-01T14:07:06.376Z" }, + { url = "https://files.pythonhosted.org/packages/b5/e8/dbf020b4d98251a9860752a094d09a65e1b436ad181faf929983f697048f/watchdog-6.0.0-py3-none-manylinux2014_x86_64.whl", hash = "sha256:20ffe5b202af80ab4266dcd3e91aae72bf2da48c0d33bdb15c66658e685e94e2", size = 79078, upload-time = "2024-11-01T14:07:07.547Z" }, + { url = "https://files.pythonhosted.org/packages/07/f6/d0e5b343768e8bcb4cda79f0f2f55051bf26177ecd5651f84c07567461cf/watchdog-6.0.0-py3-none-win32.whl", hash = "sha256:07df1fdd701c5d4c8e55ef6cf55b8f0120fe1aef7ef39a1c6fc6bc2e606d517a", size = 79065, upload-time = "2024-11-01T14:07:09.525Z" }, + { url = "https://files.pythonhosted.org/packages/db/d9/c495884c6e548fce18a8f40568ff120bc3a4b7b99813081c8ac0c936fa64/watchdog-6.0.0-py3-none-win_amd64.whl", hash = "sha256:cbafb470cf848d93b5d013e2ecb245d4aa1c8fd0504e863ccefa32445359d680", size = 79070, upload-time = "2024-11-01T14:07:10.686Z" }, + { url = "https://files.pythonhosted.org/packages/33/e8/e40370e6d74ddba47f002a32919d91310d6074130fe4e17dabcafc15cbf1/watchdog-6.0.0-py3-none-win_ia64.whl", hash = "sha256:a1914259fa9e1454315171103c6a30961236f508b9b623eae470268bbcc6a22f", size = 79067, upload-time = "2024-11-01T14:07:11.845Z" }, ] diff --git a/variome_backend/library_access/middleware.py b/variome_backend/library_access/middleware.py index e88dfbc2..69859d15 100644 --- a/variome_backend/library_access/middleware.py +++ b/variome_backend/library_access/middleware.py @@ -13,7 +13,7 @@ class AlwaysLoggedInMiddleware: site while keeping the admin area protected. Requires the public demo user (username='public_demo_user', - email='public_demo_user@ibvl.ca') to exist in the database. + email='public_demo_user@example.com') to exist in the database. If the user does not exist, a warning is logged and public access is effectively disabled. """ @@ -31,7 +31,7 @@ def __call__(self, request): try: user = User.objects.get( username="public_demo_user", - email="public_demo_user@ibvl.ca", + email="public_demo_user@example.com", ) user.backend = "django.contrib.auth.backends.ModelBackend" login(request, user) @@ -40,7 +40,7 @@ def __call__(self, request): logger.warning( "PUBLIC_BVL is set to True but the public demo user " "(username='public_demo_user', " - "email='public_demo_user@ibvl.ca') " + "email='public_demo_user@example.com') " "does not exist. Public access is disabled. " "Create this user to enable public access." ) diff --git a/variome_backend/library_access/models.py b/variome_backend/library_access/models.py index 21a0f42c..df04cc8a 100644 --- a/variome_backend/library_access/models.py +++ b/variome_backend/library_access/models.py @@ -3,7 +3,6 @@ from django.db import models from django.utils import timezone from auditlog.registry import auditlog -import pghistory import os @@ -11,7 +10,6 @@ ACCESSES_PER_DAY = os.getenv("ACCESSES_PER_DAY", 100) -@pghistory.track() class UserProfile(models.Model): user = models.OneToOneField(User, on_delete=models.CASCADE, related_name="profile") accesses_per_day = models.IntegerField(default=ACCESSES_PER_DAY) @@ -43,7 +41,6 @@ class Meta: # Proxy models so that the models appear under Library Access in the admin dashboard -@pghistory.track() class LibraryUser(User): def save(self, *args, **kwargs): if not self.pk: @@ -58,7 +55,6 @@ class Meta: verbose_name_plural = "Users" -@pghistory.track() class LibraryGroup(Group): class Meta: proxy = True diff --git a/variome_backend/management/VCFCallFilters/CallFilter.py b/variome_backend/management/VCFCallFilters/CallFilter.py new file mode 100644 index 00000000..4049ae02 --- /dev/null +++ b/variome_backend/management/VCFCallFilters/CallFilter.py @@ -0,0 +1,199 @@ +""" +CallFilter base class for VCF import filters. +""" + +from time import sleep + +from variome_backend.management.vcf_import_utils import validate_get + +import vcfpy +import os +import logging + +import gzip +import io +from typing import List, Dict, Any, Optional +from abc import ABC, abstractmethod +from tenacity import retry, stop_after_attempt, wait_fixed, retry_if_exception_type, before_sleep_log + +#file open retries +ATTEMPTS = 12 +INTERVAL = 40 + +def wait_with_sleep(retry_state): + return INTERVAL + +logger = logging.getLogger(__name__) + +class CallFilter(ABC): + def __init__(self, vcf_file_path: str, settings): + self.csq_fields = [] + self.csq_index_map = {} + self.vcf_header = None + self._vcf_file_path = vcf_file_path + self.settings = settings + + self._init_vcf_header_and_csq() + + @retry( + stop=stop_after_attempt(ATTEMPTS), + wait=wait_with_sleep, + retry=retry_if_exception_type(FileNotFoundError), + before_sleep=before_sleep_log(logger, logging.WARNING) + ) + def stream_with_retries(self, file_path): + + if file_path.endswith('.gz'): + gz = gzip.open(file_path, 'rb') + return io.TextIOWrapper(gz, encoding='utf-8', errors='replace') + else: + return io.TextIOWrapper(open(file_path, 'rb'), encoding='utf-8', errors='replace') + + @retry( + stop=stop_after_attempt(ATTEMPTS), + wait=wait_with_sleep, + retry=retry_if_exception_type(FileNotFoundError), + before_sleep=before_sleep_log(logger, logging.WARNING) + ) + def _init_vcf_header_and_csq(self): + + child_class_name = self.__class__.__name__ + logger.info(f"scanning {self._vcf_file_path} using {child_class_name}...") + # Only read header and csq fields, not all records + if self._vcf_file_path.endswith('.gz'): + with gzip.open(self._vcf_file_path, 'rb') as gz: + with io.TextIOWrapper(gz, encoding='utf-8', errors='replace') as f: + vcf_reader = vcfpy.Reader(stream=f) + self.vcf_header = vcf_reader.header + csq = vcf_reader.header.get_info_field_info("CSQ") + csq_elements = csq.description.split("Format: ")[1] + self.csq_fields = csq_elements.split("|") + self.csq_index_map = {field: index for index, field in enumerate(self.csq_fields)} + else: + with io.TextIOWrapper(open(self._vcf_file_path, 'rb'), encoding='utf-8', errors='replace') as f: + vcf_reader = vcfpy.Reader(stream=f) + self.vcf_header = vcf_reader.header + csq = vcf_reader.header.get_info_field_info("CSQ") + csq_elements = csq.description.split("Format: ")[1] + self.csq_fields = csq_elements.split("|") + self.csq_index_map = {field: index for index, field in enumerate(self.csq_fields)} + + def vcf_record_stream(self): + """ + Generator that yields VCF records one at a time from the file. + """ + RANGES = self.settings.RANGES + ranges = RANGES.split(",") if RANGES else [] + range_map = {} + for r in ranges: + chrom, pos_range = r.split(":") + start, end = map(int, pos_range.split("-")) + range_map[str.replace(chrom, "chr", "")] = (start, end) + + def yield_records_in_ranges(reader): + if RANGES: + for record in reader: + chrom_key = record.CHROM + # Try all possible chrom representations + keys = [chrom_key, chrom_key.replace("chr", ""), "chr"+chrom_key] + found = False + for k in keys: + if k in range_map: + start, end = range_map[k] + if start <= record.POS <= end: + yield record + found = True + break + else: + for record in reader: + yield record + + with self.stream_with_retries(self._vcf_file_path) as stream: + yield from yield_records_in_ranges(vcfpy.Reader(stream=stream)) + + + + + def describe(self) -> str: + description = "" + csq_fields = '\n'.join(self.csq_fields) + description += f"INFO fields:" + if hasattr(self, 'vcf_header') and self.vcf_header is not None: + info_fields = '(from header) \n' + info_fields += '\n'.join(self.vcf_header.info_ids()) + else: + info_fields = '(not found)' + description += f"\n{info_fields}\n" + description += f"CSQ fields:\n{csq_fields}\n" + return description + + def load_vcf_file(self, file, type = "SNV"): + return [] + + def get_csq_values(self, record: vcfpy.Record, field_name: str) -> List[str]: + """ + Helper method to extract a specific CSQ field value from a VCF record. + + Args: + record: VCF record object + field_name: Name of the CSQ field to extract + """ + index = self.csq_index_map.get(field_name) + values = [] + if index is None: + return [] + csq_list = record.INFO.get("CSQ", []) + if not csq_list: + return [] + for csq_entry in csq_list: + csq_parts = csq_entry.split("|") + if index >= len(csq_parts): + return [] + else: + values.append(csq_parts[index]) + return values + + def get_info_value(self, record: vcfpy.Record, field_name: str, fallback = None) -> str: + """ + Helper method to extract a specific INFO field value from a VCF record. + + Args: + record: VCF record object + field_name: Name of the INFO field to extract + """ + return record.INFO.get(field_name, fallback) + + def make_variant_id(self, record: vcfpy.Record) -> str: + OUT_HYPHENS = self.settings.OUT_HYPHENS + OUT_CHR = self.settings.OUT_CHR + + """ + Helper method to construct a variant ID from VCF record fields. + + Args: + record: VCF record object + """ + if OUT_CHR: + chrom = "chr"+ record.CHROM.replace("chr", "") + else: + chrom = record.CHROM.replace("chr", "") + pos = record.POS + ref = record.REF + alt = record.ALT[0].value # assuming single ALT allele + if OUT_HYPHENS: + # variome prefers + variant_id = f"{chrom}-{pos}-{ref}-{alt}" + else: + # VCF standard seems to store using _ as separators + variant_id = f"{chrom}_{pos}_{ref}_{alt}" + return variant_id + + @abstractmethod + def getTableRows(self) -> List[Dict[str, Any]]: + """ + Extract table rows from the loaded VCF data. + + Returns: + List of dictionaries where each dict represents a row in the table. + """ + pass diff --git a/variome_backend/management/VCFCallFilters/GenesCallFilter.py b/variome_backend/management/VCFCallFilters/GenesCallFilter.py new file mode 100644 index 00000000..75c0b75b --- /dev/null +++ b/variome_backend/management/VCFCallFilters/GenesCallFilter.py @@ -0,0 +1,22 @@ +from variome_backend.management.VCFCallFilters.CallFilter import CallFilter +from typing import List, Dict, Any + + +class GenesCallFilter(CallFilter): + """ + Generates the 'genes' table. + """ + def __init__(self, vcf_file_path, settings): + super().__init__(vcf_file_path, settings) + + def getTableRows(self): + """ + Generator that yields unique gene symbols as dicts, one at a time. + """ + short_names = set() + for record in self.vcf_record_stream(): + for gene_symbol in self.get_csq_values(record, "SYMBOL"): + if gene_symbol and gene_symbol != self.settings.NA: + if gene_symbol not in short_names: + short_names.add(gene_symbol) + yield {'short_name': gene_symbol} diff --git a/variome_backend/management/VCFCallFilters/GenomicBvlFrequenciesCallFilter.py b/variome_backend/management/VCFCallFilters/GenomicBvlFrequenciesCallFilter.py new file mode 100644 index 00000000..da6796ad --- /dev/null +++ b/variome_backend/management/VCFCallFilters/GenomicBvlFrequenciesCallFilter.py @@ -0,0 +1,94 @@ +from variome_backend.management.VCFCallFilters.CallFilter import CallFilter +from variome_backend.management.vcf_import_utils import validate_get +from typing import List, Dict, Any +import logging + +logger = logging.getLogger(__name__) + + +class GenomicBvlFrequenciesCallFilter(CallFilter): + """ + Generates the 'genomic_bvl_frequencies' table. + """ + def __init__(self, vcf_file_path: str, settings): + super().__init__(vcf_file_path, settings) + + def getTableRows(self): + """ + Generator that yields genomic BVL frequency rows one at a time. + """ + for record in self.vcf_record_stream(): + variant = self.make_variant_id(record) + qual = record.QUAL + info = record.INFO + + def parse_info_field(field): + values = info.get(field, None) + if values is None: + return [None, None, None] + return values[0:3] + + na = self.settings.NA + if "AF_tot_XX_XY" in info: + #ibvl style + af_tot, af_xx, af_xy = parse_info_field("AF_tot_XX_XY") + ac_tot, ac_xx, ac_xy = parse_info_field("AC_tot_XX_XY") + an_tot, an_xx, an_xy = parse_info_field("AN_tot_XX_XY") + hom_tot, hom_xx, hom_xy = parse_info_field("hom_tot_XX_XY") + yield { + 'variant': variant, + 'af_tot': af_tot, + 'ac_tot': ac_tot, + 'an_tot': an_tot, + 'hom_tot': hom_tot, + 'af_xx': af_xx, + 'af_xy': af_xy, + 'ac_xy': ac_xy, + 'an_xx': an_xx, + 'ac_xx': ac_xx, + 'an_xy': an_xy, + 'hom_xx': hom_xx, + 'hom_xy': hom_xy, + 'quality': qual + } + else: + #variome style + af_tot = info.get("AF", None) + af_xx = info.get("AF_XX", None) + af_xy = info.get("AF_XY", None) + ac_tot = info.get("AC", None) + ac_xx = info.get("AC_XX", None) + ac_xy = info.get("AC_XY", None) + an_tot = info.get("AN", None) + an_xx = info.get("AN_XX", None) + an_xy = info.get("AN_XY", None) + hom_tot = info.get("numhomalt", None) + hom_xx = info.get("numhomalt_XX", None) + hom_xy = info.get("numhomalt_XY", None) + hemi_tot = info.get("numhemi", None) + hemi_xx = info.get("numhemi_XX", None) + hemi_xy = info.get("numhemi_XY", None) + l = len(ac_tot) if ac_tot is not None else 0 + for i in range(l): + try: + yield { + 'variant': variant, + 'af_tot': validate_get(af_tot, i, na), + 'ac_tot': validate_get(ac_tot, i, na), + 'an_tot': validate_get(an_tot, i, na), + 'hom_tot': validate_get(hom_tot, i, na), + 'hemi_tot': validate_get(hemi_tot, i, na), + 'af_xx': validate_get(af_xx, i, na), + 'af_xy': validate_get(af_xy, i, na), + 'ac_xx': validate_get(ac_xx, i, na), + 'ac_xy': validate_get(ac_xy, i, na), + 'an_xx': validate_get(an_xx, i, na), + 'an_xy': validate_get(an_xy, i, na), + 'hom_xx': validate_get(hom_xx, i, na), + 'hom_xy': validate_get(hom_xy, i, na), + 'hemi_xx': validate_get(hemi_xx, i, na), + 'hemi_xy': validate_get(hemi_xy, i, na), + 'quality': qual + } + except Exception as e: + logger.warning(f"Error parsing frequency fields for variant {variant}: {e}") diff --git a/variome_backend/management/VCFCallFilters/MtBvlFrequenciesCallFilter.py b/variome_backend/management/VCFCallFilters/MtBvlFrequenciesCallFilter.py new file mode 100644 index 00000000..65a7ba7b --- /dev/null +++ b/variome_backend/management/VCFCallFilters/MtBvlFrequenciesCallFilter.py @@ -0,0 +1,38 @@ +from variome_backend.management.VCFCallFilters.CallFilter import CallFilter +from typing import List, Dict, Any + + +class MtBvlFrequenciesCallFilter(CallFilter): + """ + Generates the 'mt_bvl_frequencies' table. + """ + def __init__(self, vcf_file_path: str, settings): + super().__init__(vcf_file_path, settings) + + def getTableRows(self) -> List[Dict[str, Any]]: + rows = [] + NA = self.settings.NA + for record in self.vcf_record_stream(): + variant = self.make_variant_id(record) + gt_fields = record.INFO # Placeholder; actual GT fields extraction may differ + an = gt_fields.get("AN", 0) + if an == 0: + continue + ac_hom = gt_fields.get("AC_hom", 0) + ac_het = gt_fields.get("AC_het", 0) + af_hom = gt_fields.get("AF_hom", 0.0) + af_het = gt_fields.get("AF_het", 0.0) + max_hl = gt_fields.get("max_observed_heteroplasmy", 0.0) + hl_histogram = gt_fields.get("heteroplasmy_histogram", []) + hl_hist = ",".join(map(str, hl_histogram)) if hl_histogram else NA + rows.append({ + 'variant': variant, + 'an': an, + 'ac_hom': ac_hom, + 'ac_het': ac_het, + 'af_hom': af_hom, + 'af_het': af_het, + 'hl_hist': hl_hist, + 'max_hl': max_hl + }) + return rows diff --git a/variome_backend/management/VCFCallFilters/MtsCallFilter.py b/variome_backend/management/VCFCallFilters/MtsCallFilter.py new file mode 100644 index 00000000..5503b290 --- /dev/null +++ b/variome_backend/management/VCFCallFilters/MtsCallFilter.py @@ -0,0 +1,54 @@ +from variome_backend.management.VCFCallFilters.CallFilter import CallFilter +from typing import List, Dict, Any, Optional + + +class MtsCallFilter(CallFilter): + """ + Generates the 'mts' table (mitochondrial variant annotations). + """ + def __init__(self, vcf_file_path: str, settings, assembly: Optional[str] = None): + super().__init__(vcf_file_path, settings) + self.assembly = assembly + self.gnomad_variants = set() + + def getTableRows(self) -> List[Dict[str, Any]]: + mts = {} + NA = self.settings.NA + for record in self.vcf_record_stream(): + variant = self.make_variant_id(record) + pos = record.POS + ref = record.REF + alt = record.ALT[0].value # assuming single ALT allele + + # Extract CSQ values + existing_variation_list = self.get_csq_values(record, "Existing_variation") + dbsnp_id = NA + clinvar_vcv = NA + for ev in existing_variation_list: + if ev.startswith("rs"): + dbsnp_id = ev + if ev.startswith("VCV"): + clinvar_vcv = ev + + # URLs (placeholders, adjust as needed) + ucsc_url = f"https://genome.ucsc.edu/cgi-bin/hgTracks?db={self.assembly or 'hg38'}&position=chrM%3A{pos}-{pos}" + mitomap_url = f"https://www.mitomap.org/foswiki/bin/view/MITOMAP/MutationsCodingControl#{pos}" + gnomad_url = f"https://gnomad.broadinstitute.org/variant/M-{pos}-{ref}-{alt}?dataset=gnomad_r3" + dbsnp_url = f"https://www.ncbi.nlm.nih.gov/snp/{dbsnp_id}" if dbsnp_id != NA else "" + clinvar_url = f"https://www.ncbi.nlm.nih.gov/clinvar/variation/{clinvar_vcv[3:]}" if clinvar_vcv != NA else "" + + if variant not in mts: + mts[variant] = { + 'variant': variant, + 'pos': pos, + 'ref': ref, + 'alt': alt, + 'ucsc_url': ucsc_url, + 'mitomap_url': mitomap_url, + 'gnomad_url': gnomad_url, + 'dbsnp_id': dbsnp_id, + 'dbsnp_url': dbsnp_url, + 'clinvar_url': clinvar_url, + 'clinvar_vcv': clinvar_vcv + } + return list(mts.values()) diff --git a/variome_backend/management/VCFCallFilters/SnvsCallFilter.py b/variome_backend/management/VCFCallFilters/SnvsCallFilter.py new file mode 100644 index 00000000..b7b49db0 --- /dev/null +++ b/variome_backend/management/VCFCallFilters/SnvsCallFilter.py @@ -0,0 +1,135 @@ +from variome_backend.management.VCFCallFilters.CallFilter import CallFilter +from typing import List, Dict, Any +import logging + +logger = logging.getLogger(__name__) + + +class SnvsCallFilter(CallFilter): + """ + Generates the 'snvs' table (SNV-specific annotations). + """ + def __init__(self, vcf_file_path: str, settings, assembly=None): + super().__init__(vcf_file_path, settings) + self.assembly = assembly + + def getTableRows(self): + """ + Generator that yields SNV rows one at a time. + """ + seen = set() + for record in self.vcf_record_stream(): + variant = self.make_variant_id(record) + if variant in seen: + continue + seen.add(variant) + pos = record.POS + ref = record.REF + alt = record.ALT[0].value # assuming single ALT allele + + class_list = self.get_csq_values(record, "VARIANT_CLASS") + cadd_phred_list = record.INFO.get("CADD_PHREDscore", self.get_csq_values(record, "CADD_PHRED")) # variome: CADD_PHREDscore in info; ibvl: CADD_PHRED in csq! + existing_variation_list = self.get_csq_values(record, "Existing_variation") + ds_ag_list = self.get_csq_values(record, "DS_AG") + ds_al_list = self.get_csq_values(record, "DS_AL") + ds_dg_list = self.get_csq_values(record, "DS_DG") + ds_dl_list = self.get_csq_values(record, "DS_DL") + dbsnp_ids = [] + + clinvar_vcvs = [] + clinvar_from_info = record.INFO.get("ClinVar_Variation_ID", None) + for ev in existing_variation_list: + if ev.startswith("rs"): + dbsnp_ids.append(ev) + if ev.startswith("VCV"): + clinvar_vcvs.append(ev) + NA = self.settings.NA + variant_class = record.INFO.get("TYPE")[0] if record.INFO.get("TYPE") else (class_list[0] if class_list else NA) + if cadd_phred_list and cadd_phred_list[0] != "": + try: + cadd_score = float(cadd_phred_list[0]) + if float(cadd_score).is_integer(): + cadd_score = str(cadd_score).replace('.0', '') + except (ValueError, TypeError): + cadd_score = None + else: + cadd_score = None + + # Determine variant length + if variant_class in ["SNV", "SNP"]: + var_length = 1 + else: + var_length = abs(len(alt) - len(ref)) + 1 + + # CADD interpretation (threshold from settings) + if cadd_score is not None: + cadd_intr = "Damaging" if float(cadd_score) >= self.settings.CADD_DAMAGING_THRESHOLD else "Tolerable" + else: + cadd_score = NA + cadd_intr = NA + + # Max SpliceAI score + # Detect VCF dialect for SpliceAI + spliceai_info = record.INFO.get("SpliceAI") + if spliceai_info: + # SpliceAI is in INFO field (e.g., T|TTC28|0.00|0.00|0.01|0.00|...) + # Can be a list, take first if so + if isinstance(spliceai_info, list): + spliceai_str = spliceai_info[0] + else: + spliceai_str = spliceai_info + spliceai_parts = spliceai_str.split("|") + # AG, AL, DG, DL are 3rd, 4th, 5th, 6th fields (0-based: 2,3,4,5) + splice_ai_raw = [spliceai_parts[i] if len(spliceai_parts) > i else '.' for i in range(2, 6)] + else: + # Fallback: use DS_* from CSQ + splice_ai_raw = ds_ag_list + ds_al_list + ds_dg_list + ds_dl_list + # If all are '.' (or empty), set splice_ai to '.' + if all((s == '.' or s == '' or s is None) for s in splice_ai_raw): + max_splice_ai = NA + else: + splice_ai_scores = [] + for score in splice_ai_raw: + try: + splice_ai_scores.append(float(score)) + except (ValueError, TypeError): + continue + if splice_ai_scores: + max_splice_ai = max(splice_ai_scores) + if float(max_splice_ai).is_integer(): + max_splice_ai = str(max_splice_ai).replace('.0', '') + else: + max_splice_ai = NA + window = 25 + chrom_noprefix = record.CHROM.replace("chr", "") + start = max(1, pos - window) + end = pos + window + ucsc_url = f"https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&highlight=hg38.{chrom_noprefix}%3A{pos}-{pos}&position={chrom_noprefix}%3A{start}-{end}" + ensembl_url = f"https://asia.ensembl.org/Homo_sapiens/Location/View?r={chrom_noprefix}%3A{start}-{end}" + gnomad_url = f"https://gnomad.broadinstitute.org/variant/{chrom_noprefix}-{pos}-{ref}-{alt}?dataset=gnomad_r4" + dbsnp_url = f"https://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs={dbsnp_ids[0]}" if dbsnp_ids else NA + if (clinvar_vcvs and clinvar_vcvs[0].startswith("VCV")): + clinvar_url = f"https://www.ncbi.nlm.nih.gov/clinvar/variation/{clinvar_vcvs[0][3:]}/" + elif clinvar_from_info: + clinvar_url = f"https://www.ncbi.nlm.nih.gov/clinvar/variation/{clinvar_from_info}/" + else: + clinvar_url = NA + yield { + 'variant': variant, + 'type': variant_class, + 'length': var_length, + 'chr': chrom_noprefix, + 'pos': pos, + 'ref': ref, + 'alt': alt, + 'cadd_score': cadd_score, + 'cadd_intr': cadd_intr, + 'dbsnp_id': NA, + 'dbsnp_url': NA, + 'ucsc_url': ucsc_url, + 'ensembl_url': ensembl_url, + 'clinvar_url': clinvar_url, + 'gnomad_url': gnomad_url, + "clinvar_vcv": clinvar_vcvs[0] if clinvar_vcvs else clinvar_from_info if clinvar_from_info else NA, + "splice_ai": max_splice_ai + } diff --git a/variome_backend/management/VCFCallFilters/TranscriptsCallFilter.py b/variome_backend/management/VCFCallFilters/TranscriptsCallFilter.py new file mode 100644 index 00000000..f384286d --- /dev/null +++ b/variome_backend/management/VCFCallFilters/TranscriptsCallFilter.py @@ -0,0 +1,59 @@ +from variome_backend.management.VCFCallFilters.CallFilter import CallFilter +from variome_backend.management.vcf_import_utils import validate_get +from typing import List, Dict, Any +import logging + +logger = logging.getLogger(__name__) + + +class TranscriptsCallFilter(CallFilter): + """ + Generates the 'transcripts' table. + """ + def __init__(self, vcf_file_path, settings): + super().__init__(vcf_file_path, settings) + + def getTableRows(self): + """ + Generator that yields transcript rows one at a time. + """ + seen = set() + na = self.settings.NA + for record in self.vcf_record_stream(): + feature = self.get_csq_values(record, "Feature") + if feature == "" or feature == "NA" or feature is None or len(feature) == 0: + logger.warning("skipping transcript with no feature: %s", feature) + feature = na + symbol = self.get_csq_values(record, "SYMBOL") + source = self.get_csq_values(record, "SOURCE") + biotype = self.get_csq_values(record, "BIOTYPE") + l = len(feature) + tsl = [None] * l # variome sets this to none (.) it could be: self.get_csq_values(record, "TSL") + if not (l == len(symbol) == len(source) == len(tsl)): + continue + for i in range(l): + transcript_id = validate_get(feature, i, na) + if transcript_id in seen: + continue + seen.add(transcript_id) + transcript_type = source[i] + if transcript_type == "Ensembl": + transcript_type = "E" + elif transcript_type == "RefSeq" or transcript_type == "Refseq": + transcript_type = "R" + else: + if transcript_id != na: + transcript_type = self.settings.DEFAULT_TRANSCRIPT_SOURCE + else: + transcript_type = na + if not (biotype and biotype[i]): + biotype_val = na + else: + biotype_val = biotype[i] + yield { + 'transcript_id': transcript_id, + 'gene': validate_get(symbol, i, na), + 'transcript_type': transcript_type, + 'tsl': validate_get(tsl, i, na), + 'biotype': biotype_val + } diff --git a/variome_backend/management/VCFCallFilters/VariantsAnnotationsCallFilter.py b/variome_backend/management/VCFCallFilters/VariantsAnnotationsCallFilter.py new file mode 100644 index 00000000..8590121b --- /dev/null +++ b/variome_backend/management/VCFCallFilters/VariantsAnnotationsCallFilter.py @@ -0,0 +1,44 @@ +from variome_backend.management.VCFCallFilters.CallFilter import CallFilter +from typing import List, Dict, Any +import urllib.parse + + +class VariantsAnnotationsCallFilter(CallFilter): + """ + Generates the 'variants_annotations' table. + """ + def __init__(self, vcf_file_path, settings): + super().__init__(vcf_file_path, settings) + + def getTableRows(self): + """ + Generator that yields annotation rows one at a time. + """ + NA = self.settings.NA + for record in self.vcf_record_stream(): + variant = self.make_variant_id(record) + hgvsp_list = self.get_csq_values(record, "HGVSp") + sift_list = self.get_csq_values(record, "SIFT") + polyphen_list = self.get_csq_values(record, "PolyPhen") + transcript_list = self.get_csq_values(record, "Feature") + impact_list = self.get_csq_values(record, "IMPACT") + l = len(hgvsp_list) + if not (l == len(sift_list) == len(polyphen_list) == len(transcript_list)): + def pad_list(lst, target_len): + return lst + [NA] * (target_len - len(lst)) + sift_list = pad_list(sift_list, l) + polyphen_list = pad_list(polyphen_list, l) + for i in range(l): + hgvsp = urllib.parse.unquote(hgvsp_list[i]) if hgvsp_list[i] not in [NA, ""] else NA + sift = sift_list[i] + polyphen = polyphen_list[i] + transcript = transcript_list[i] + impact = impact_list[i] if impact_list and len(impact_list) > i else NA + yield { + 'hgvsp': hgvsp, + 'sift': sift, + 'polyphen': polyphen, + 'transcript': transcript if transcript else NA, + 'variant': variant, + 'impact': impact + } diff --git a/variome_backend/management/VCFCallFilters/VariantsCallFilter.py b/variome_backend/management/VCFCallFilters/VariantsCallFilter.py new file mode 100644 index 00000000..97628323 --- /dev/null +++ b/variome_backend/management/VCFCallFilters/VariantsCallFilter.py @@ -0,0 +1,39 @@ +from variome_backend.management.VCFCallFilters.CallFilter import CallFilter +from typing import List, Dict, Any + + +class VariantsCallFilter(CallFilter): + """ + Generates the 'variants' table (master variant list). + """ + def __init__(self, vcf_file_path, settings): + super().__init__(vcf_file_path, settings) + + def getTableRows(self): + """ + Generator that yields variant rows one at a time. + """ + seen = set() + for record in self.vcf_record_stream(): + variant_id = self.make_variant_id(record) + if variant_id in seen: + continue + seen.add(variant_id) + filter_val = ";".join(record.FILTER) + type_info = record.INFO.get("TYPE") + if isinstance(type_info, list) and type_info: + # Variome vcf dialect uses TYPE in INFO for variant type + var_type = type_info[0] + else: + #IBVL vcf dialect uses VARIANT_CLASS in CSQ for variant type + var_classes = self.get_csq_values(record, "VARIANT_CLASS") + var_type = var_classes[0] if isinstance(var_classes, list) and var_classes else None + if var_type not in ["SNV", "SNP"] and var_type is not None: + var_type = "INDEL" + elif var_type is None: + var_type = self.settings.NA + yield { + 'variant_id': variant_id, + 'var_type': var_type, + 'filter': filter_val if filter_val != "" else self.settings.NA + } diff --git a/variome_backend/management/VCFCallFilters/VariantsConsequencesCallFilter.py b/variome_backend/management/VCFCallFilters/VariantsConsequencesCallFilter.py new file mode 100644 index 00000000..d0224a3c --- /dev/null +++ b/variome_backend/management/VCFCallFilters/VariantsConsequencesCallFilter.py @@ -0,0 +1,57 @@ +from variome_backend.management.VCFCallFilters.CallFilter import CallFilter +from typing import List, Dict, Any +import logging +import os + +logger = logging.getLogger(__name__) + +class VariantsConsequencesCallFilter(CallFilter): + """ + Generates the 'variants_consequences' table. + """ + def __init__(self, vcf_file_path, settings): + super().__init__(vcf_file_path, settings) + + def getTableRows(self): + """ + Generator that yields variant consequence rows one at a time. + """ + + severity_map = {} + """Load the consequence-to-severity mapping from the severities TSV file.""" + input_tsv_path = getattr(self.settings, "INPUT_TSV_PATH", None) + if not input_tsv_path: + logger.warning( + "INPUT_TSV_PATH is not set; severity lookups will return no results" + ) + return + severity_table_path = os.path.join(input_tsv_path, "severities.tsv") + try: + with open(severity_table_path, "r") as f: + for line in f.readlines()[1:]: + parts = line.strip().split("\t") + if len(parts) >= 2: + severity, consequence = parts[0], parts[-1] + severity_map[consequence] = int(severity) + except FileNotFoundError: + logger.warning("Severity table file not found: %s", severity_table_path) + + + for record in self.vcf_record_stream(): + variant = self.make_variant_id(record) + transcript_list = self.get_csq_values(record, "Feature") + consequence_list = self.get_csq_values(record, "Consequence") + l = len(transcript_list) + if l != len(consequence_list): + continue + for i in range(l): + transcript = transcript_list[i] + consequences = consequence_list[i].split("&") + for consequence in consequences: + severity = severity_map.get(consequence) + if severity is not None: + yield { + 'severity': severity, + 'variant': variant, + 'transcript': transcript if transcript else self.settings.NA, + } diff --git a/variome_backend/management/VCFCallFilters/VariantsTranscriptsCallFilter.py b/variome_backend/management/VCFCallFilters/VariantsTranscriptsCallFilter.py new file mode 100644 index 00000000..78d687d7 --- /dev/null +++ b/variome_backend/management/VCFCallFilters/VariantsTranscriptsCallFilter.py @@ -0,0 +1,40 @@ +from variome_backend.management.VCFCallFilters.CallFilter import CallFilter +from typing import List, Dict, Any +import logging + +logger = logging.getLogger(__name__) + + +class VariantsTranscriptsCallFilter(CallFilter): + """ + Generates the 'variants_transcripts' table. + """ + def __init__(self, vcf_file_path, settings): + super().__init__(vcf_file_path, settings) + + def getTableRows(self): + """ + Generator that yields variant-transcript rows one at a time. + """ + na = self.settings.NA + for record in self.vcf_record_stream(): + transcript = self.get_csq_values(record, "Feature") + variant = self.make_variant_id(record) + hgvsc = self.get_csq_values(record, "HGVSc") + l = len(transcript) + lh = len(hgvsc) + if l != lh: + logging.warning(f"mismatched lengths for transcript and hgvsc: {l} vs {lh}") + continue + for i in range(l): + t = transcript[i] + h = hgvsc[i] + if t == "NA" or t == "" or t is None: + t = na + if h == "NA" or h == "" or h is None: + h = na + yield { + 'transcript': t, + 'variant': variant, + 'hgvsc': h + } diff --git a/variome_backend/management/VCFCallFilters/__init__.py b/variome_backend/management/VCFCallFilters/__init__.py new file mode 100644 index 00000000..9fb7aa66 --- /dev/null +++ b/variome_backend/management/VCFCallFilters/__init__.py @@ -0,0 +1 @@ +# Makes filters a Python package diff --git a/variome_backend/management/commands/create_indices.py b/variome_backend/management/commands/create_indices.py new file mode 100644 index 00000000..27d88d1b --- /dev/null +++ b/variome_backend/management/commands/create_indices.py @@ -0,0 +1,103 @@ +""" +Django management command to create indices on key tables/fields for all supported DB backends. +- Uses Django's schema_editor when possible, falls back to raw SQL for custom indices. +- Idempotent: skips indices that already exist. +- Logs all actions. +""" +import logging +from django.core.management.base import BaseCommand +from django.db import connection, transaction +from django.apps import apps + +log = logging.getLogger("management") + +# Index specification: (model_label, field(s), index_name) +INDEX_SPECS = [ + ("library.SNV", ["pos"], "snvs_pos_idx"), + ("library.SNV", ["chr"], "snvs_chr_idx"), + ("library.SNV", ["dbsnp_id"], "snvs_dbsnp_idx"), + ("library.SNV", ["clinvar_vcv"], "snvs_clinvar_idx"), + ("library.Transcript", ["transcript_type"], "transcripts_type_idx"), + ("library.VariantConsequence", ["variant_transcript"], "variants_consequences_vt_idx"), + ("library.VariantTranscript", ["transcript"], "variants_transcripts_t_idx"), + ("library.VariantTranscript", ["variant"], "variants_transcripts_v_idx"), + ("library.SNV", ["variant"], "snvs_variant_idx"), + ("library.VariantAnnotation", ["variant_transcript"], "variants_annotations_vt_idx"), +# ("library.GenomicGnomadFrequency", ["variant"], "gnomad_frequencies_variant_idx"), + ("library.GenomicVariomeFrequency", ["variant"], "variome_frequencies_variant_idx"), +] + +class Command(BaseCommand): + help = "Create indices on key tables/fields for all supported DB backends." + + def add_arguments(self, parser): + parser.add_argument( + '--dry-run', + action='store_true', + help='Preview index creation actions without making changes.' + ) + + def handle(self, *args, **options): + dry_run = options.get('dry_run', False) + self.stdout.write("\n=== Starting index creation ===\n") + vendor = connection.vendor + self.stdout.write(f"Detected DB backend: {vendor}\n") + if dry_run: + self.stdout.write("[DRY RUN] No changes will be made.\n") + with transaction.atomic(): + for model_label, fields, index_name in INDEX_SPECS: + model = apps.get_model(model_label) + table = model._meta.db_table + # Check if index exists + if self.index_exists(table, index_name): + self.stdout.write(f"Index {index_name} already exists on {table}, skipping.") + continue + if dry_run: + self.stdout.write(f"[DRY RUN] Would create index {index_name} on {table}({', '.join(fields)})") + continue + # Try to create index + try: + self.create_index(table, fields, index_name) + self.stdout.write(f"Created index {index_name} on {table}({', '.join(fields)})") + except Exception as e: + self.stderr.write(f"Failed to create index {index_name} on {table}: {e}\n") + self.stdout.write("\n=== Index creation complete ===\n") + + def index_exists(self, table, index_name): + with connection.cursor() as cursor: + vendor = connection.vendor + if vendor == "postgresql": + cursor.execute(""" + SELECT 1 FROM pg_indexes WHERE tablename = %s AND indexname = %s + """, [table, index_name]) + return cursor.fetchone() is not None + elif vendor == "mysql": + cursor.execute(""" + SHOW INDEX FROM `{}` WHERE Key_name = %s + """.format(table), [index_name]) + return cursor.fetchone() is not None + elif vendor == "oracle": + cursor.execute(""" + SELECT 1 FROM user_indexes WHERE table_name = UPPER(%s) AND index_name = UPPER(%s) + """, [table, index_name]) + return cursor.fetchone() is not None + else: + # Fallback: try to create and catch duplicate error + return False + + def create_index(self, table, fields, index_name): + vendor = connection.vendor + if vendor == "postgresql": + field_list = ", ".join([f'"{f}"' for f in fields]) + sql = f'CREATE INDEX IF NOT EXISTS {index_name} ON "{table}" ({field_list})' + elif vendor == "mysql": + field_list = ", ".join([f'`{f}`' for f in fields]) + sql = f'CREATE INDEX {index_name} ON `{table}` ({field_list})' + elif vendor == "oracle": + field_list = ", ".join(fields) + sql = f'CREATE INDEX {index_name} ON {table} ({field_list})' + else: + field_list = ", ".join(fields) + sql = f'CREATE INDEX {index_name} ON {table} ({field_list})' + with connection.cursor() as cursor: + cursor.execute(sql) diff --git a/variome_backend/management/commands/import_bvl.py b/variome_backend/management/commands/import_bvl.py index 5cd24d01..65ecb0a3 100644 --- a/variome_backend/management/commands/import_bvl.py +++ b/variome_backend/management/commands/import_bvl.py @@ -7,7 +7,7 @@ from django.core.management.base import BaseCommand from django.db import transaction -import variome_backend.management.tools as bvltools +import variome_backend.management.import_tools as bvltools log = logging.getLogger("management") @@ -20,14 +20,14 @@ class Command(BaseCommand): def log_errors(self, entity_type, errors): if errors: sys.stderr.write(f"\nERRORS ({len(errors)}) in {entity_type} load:\n") - for err in errors: - sys.stderr.write(f"* {err}\n") + for line in bvltools.format_errors(errors, log_all=self.log_all_errors): + sys.stderr.write(line + "\n") def log_warnings(self, entity_type, warnings): if warnings: sys.stderr.write(f"\nWARNINGS ({len(warnings)}) in {entity_type} load:\n") - for err in warnings: - sys.stderr.write(f"* {err}\n") + for line in bvltools.format_messages(warnings, log_all=self.log_all_errors): + sys.stderr.write(line + "\n") def add_arguments(self, parser): parser.formatter_class = argparse.ArgumentDefaultsHelpFormatter @@ -148,11 +148,30 @@ def add_arguments(self, parser): default=False, help="Dry run - make no changes to database", ) + parser.add_argument( + "--log-all-errors", + dest="log_all_errors", + action="store_true", + default=False, + help="Print every error in full; by default only the first 10 per error group are shown", + ) def handle(self, **options): transaction.set_autocommit(False) log.debug("import_bvl got options: \n %s", pprint.pformat(options)) start_time = time() + self.log_all_errors = options["log_all_errors"] + + last_step_time = time() + + def log_timing(name): + nonlocal last_step_time + duration = time() - last_step_time + hours = int(duration // 3600) + minutes = int((duration % 3600) // 60) + seconds = duration % 60 + log.info("%s took %dh %dm %.1fs", name, hours, minutes, seconds) + last_step_time = time() sev_errors = None gen_errors = None @@ -189,51 +208,61 @@ def handle(self, **options): sev_errors, sev_warnings, sev_counts = bvltools.SeverityImporter( options ).import_data() + log_timing("severities") if options["genes"]: gen_errors, gen_warnings, gen_counts = bvltools.GeneImporter( options ).import_data() + log_timing("genes") if options["variants"]: var_errors, var_warnings, var_counts = bvltools.VariantImporter( options ).import_data() + log_timing("variants") if options["transcripts"]: tra_errors, tra_warnings, tra_counts = bvltools.TranscriptImporter( options ).import_data() + log_timing("transcripts") if options["snvs"]: snv_errors, snv_warnings, snv_counts = bvltools.SNVImporter( options ).import_data() + log_timing("snvs") if options["gvfs"]: gvf_errors, gvf_warnings, gvf_counts = bvltools.GVFImporter( options ).import_data() + log_timing("gvfs") if options["ggfs"]: ggf_errors, ggf_warnings, ggf_counts = bvltools.GGFImporter( options ).import_data() + log_timing("ggfs") if options["vts"]: vts_errors, vts_warnings, vts_counts = bvltools.VariantTranscriptImporter( options ).import_data() + log_timing("variant transcripts") if options["annotations"]: ann_errors, ann_warnings, ann_counts = bvltools.AnnotationImporter( options ).import_data() + log_timing("annotations") if options["consequences"]: con_errors, con_warnings, con_counts = bvltools.ConsequenceImporter( options ).import_data() + log_timing("consequences") self.log_errors("Severity", sev_errors) self.log_errors("Gene", gen_errors) diff --git a/variome_backend/management/commands/import_bvl_vcf.py b/variome_backend/management/commands/import_bvl_vcf.py new file mode 100644 index 00000000..ea3361b8 --- /dev/null +++ b/variome_backend/management/commands/import_bvl_vcf.py @@ -0,0 +1,435 @@ +import argparse +import gzip +import hashlib +import io +import json +import logging +import pprint +import sys +from pathlib import Path +from time import time + +from django.core.management.base import BaseCommand +from django.db import transaction + +import variome_backend.management.import_tools as bvltools +from variome_backend.management.vcf_import_settings import VcfImportSettings +from variome_backend.management.VCFCallFilters.GenesCallFilter import GenesCallFilter +from variome_backend.management.VCFCallFilters.TranscriptsCallFilter import TranscriptsCallFilter +from variome_backend.management.VCFCallFilters.VariantsCallFilter import VariantsCallFilter +from variome_backend.management.VCFCallFilters.VariantsTranscriptsCallFilter import VariantsTranscriptsCallFilter +from variome_backend.management.VCFCallFilters.VariantsAnnotationsCallFilter import VariantsAnnotationsCallFilter +from variome_backend.management.VCFCallFilters.VariantsConsequencesCallFilter import VariantsConsequencesCallFilter +from variome_backend.management.VCFCallFilters.SnvsCallFilter import SnvsCallFilter +from variome_backend.management.VCFCallFilters.GenomicBvlFrequenciesCallFilter import GenomicBvlFrequenciesCallFilter + +log = logging.getLogger("management") + + +def check_vcf(vcf_path): + """Check a VCF file (gzipped or plain) for read errors. Logs warnings on failure.""" + import vcfpy + is_gz = vcf_path.endswith('.gz') + log.info("Checking VCF file: %s", vcf_path) + open_func = gzip.open if is_gz else open + mode = 'rb' if is_gz else 'r' + n = 0 + last_record = None + with open_func(vcf_path, mode) as f: + text_f = io.TextIOWrapper(f, encoding='utf-8') if is_gz else f + try: + vcf_reader = vcfpy.Reader(stream=text_f) + info_fields = " ".join(vcf_reader.header.info_ids()) + log.info("VCF INFO fields:\n%s", info_fields) + csq = vcf_reader.header.get_info_field_info("CSQ") + if csq: + csq_elements = csq.description.split("Format: ")[1] + csq_fields = " ".join(csq_elements.split("|")) + log.info("VCF CSQ fields:\n%s", csq_fields) + else: + log.info("No CSQ field found in VCF INFO header.") + for record in vcf_reader: + n += 1 + last_record = record + except Exception as e: + log.warning("Error reading VCF file %s: %s", vcf_path, e) + if last_record is not None: + log.warning("Last successful record was number %d: %s", n, last_record) + log.warning( + "The VCF file will continue to be processed, but this may indicate " + "a problem that could lead to incomplete or incorrect results." + ) + else: + log.warning("No records were successfully read from the VCF file.") + sys.exit(1) + + +def _write_to_tsv(row_iter, table_name, output_dir, batch_size=10000): + """Consume row_iter and write all rows to a TSV file. Does not import into the database.""" + output_path = Path(output_dir) / f"{table_name}.tsv" + header = None + batch = [] + with open(output_path, "w", encoding="utf-8") as f: + for row in row_iter: + if header is None: + header = list(row.keys()) + f.write("\t".join(header) + "\n") + batch.append("\t".join(str(row.get(col, "")) for col in header) + "\n") + if len(batch) >= batch_size: + f.writelines(batch) + batch = [] + if batch: + f.writelines(batch) + log.info("TSV written: %s", output_path) + + +def compute_dir_hash(dir_path): + """Compute per-file SHA-256 hashes for all TSV files in a directory. + + Returns (hash_list_json, hash_map, final_hash). + """ + def file_hash(path): + hasher = hashlib.sha256() + with open(path, "rb") as f: + for chunk in iter(lambda: f.read(8192), b""): + hasher.update(chunk) + return hasher.hexdigest() + + hash_map = {} + for file in sorted(Path(dir_path).glob("*.tsv")): + hash_map[file.name] = file_hash(file) + + final_hasher = hashlib.sha256() + hash_list_json = json.dumps(hash_map, indent=2) + final_hasher.update(hash_list_json.encode('utf-8')) + return hash_list_json, hash_map, final_hasher.hexdigest() + + +class Command(BaseCommand): + help = "Import bvl data directly from a VCF file" + + def log_errors(self, entity_type, errors): + if errors: + sys.stderr.write(f"\nERRORS ({len(errors)}) in {entity_type} load:\n") + for line in bvltools.format_errors(errors, log_all=self.log_all_errors): + sys.stderr.write(line + "\n") + + def log_warnings(self, entity_type, warnings): + if warnings: + sys.stderr.write(f"\nWARNINGS ({len(warnings)}) in {entity_type} load:\n") + for line in bvltools.format_messages(warnings, log_all=self.log_all_errors): + sys.stderr.write(line + "\n") + + def add_arguments(self, parser): + parser.formatter_class = argparse.ArgumentDefaultsHelpFormatter + + # --- VCF source --- + parser.add_argument( + "--vcf", + dest="vcf_file", + required=True, + help="Path to input VCF file (plain or gzipped)", + ) + + # --- VCF interpretation settings --- + parser.add_argument( + "--na", + default=".", + help="Value used to represent missing/null data", + ) + parser.add_argument( + "--out-chr", + default=True, + action=argparse.BooleanOptionalAction, + help="Prefix chromosome names with 'chr'", + ) + parser.add_argument( + "--out-hyphens", + default=True, + action=argparse.BooleanOptionalAction, + help="Use hyphens in variant IDs (e.g. 1-100-A-G); use underscores when disabled", + ) + parser.add_argument( + "--default-transcript-source", + default="E", + dest="default_transcript_source", + help="Default transcript source when unknown (E=Ensembl, R=RefSeq)", + ) + parser.add_argument( + "--cadd-threshold", + type=int, + default=20, + dest="cadd_threshold", + help="CADD phred score threshold for 'Damaging' classification", + ) + parser.add_argument( + "--input-tsv-dir", # still needed for severities, which are not read from the VCF + default="data/fixtures", + dest="input_tsv_dir", + help="Path to the dir of the severities TSV file used by VCF filters", + ) + parser.add_argument( + "--ranges", + default=None, + help=( + "Comma-separated chromosome ranges to restrict processing, " + "e.g. '22:27010000-27020000,X:2702000-2802000'" + ), + ) + + # --- TSV conversion / hash comparison --- + parser.add_argument( + "--convert-to-tsv", + default=False, + action=argparse.BooleanOptionalAction, + dest="convert_to_tsv", + help="Write TSV files instead of importing into the database", + ) + parser.add_argument( + "--tsv-output-dir", + default="data/vcf_output", + dest="tsv_output_dir", + help="Directory to write TSV files when --convert-to-tsv is used", + ) + parser.add_argument( + "--hash-compare", + default=None, + dest="hash_compare", + help=( + "Directory of an existing TSV set to compare hashes against. " + "Requires --convert-to-tsv." + ), + ) + + # --- Table selection (mirrors import_bvl) --- + parser.add_argument("--severities", default=True, action=argparse.BooleanOptionalAction, + help="Process severity table?") + parser.add_argument("--genes", default=True, action=argparse.BooleanOptionalAction, + help="Process genes?") + parser.add_argument("--variants", default=True, action=argparse.BooleanOptionalAction, + help="Process variants?") + parser.add_argument("--transcripts", default=True, action=argparse.BooleanOptionalAction, + help="Process transcripts?") + parser.add_argument("--snvs", default=True, action=argparse.BooleanOptionalAction, + help="Process SNVs?") + parser.add_argument("--gvfs", default=True, action=argparse.BooleanOptionalAction, + help="Process genomic variome frequencies?") + parser.add_argument("--annotations", default=True, action=argparse.BooleanOptionalAction, + help="Process variant annotations?") + parser.add_argument("--consequences", default=True, action=argparse.BooleanOptionalAction, + help="Process variant consequences?") + parser.add_argument("--vts", default=True, action=argparse.BooleanOptionalAction, + help="Process variant transcripts?") + + # --- Shared DB/run flags (mirrors import_bvl) --- + parser.add_argument( + "--progress", + default=True, + action=argparse.BooleanOptionalAction, + help="Show progress indications?", + ) + parser.add_argument( + "--failfast", "-f", + default=False, + action=argparse.BooleanOptionalAction, + help="Fail on first error?", + ) + parser.add_argument( + "--batch", + default=True, + action=argparse.BooleanOptionalAction, + help="Batch database updates to improve performance", + ) + parser.add_argument( + "--delete", + default=False, + action=argparse.BooleanOptionalAction, + help="Delete existing data before importing", + ) + parser.add_argument( + "--ignore-existing", "-i", + dest="ignore-existing", + action="store_true", + default=False, + help="Ignore input rows that already exist in the database", + ) + parser.add_argument( + "--rollback-on-error", "-r", + dest="rollback-on-error", + action="store_true", + default=False, + help="Roll back all database changes if any errors occur", + ) + parser.add_argument( + "--dry-run", "-n", + dest="dry-run", + action="store_true", + default=False, + help="Dry run - make no changes to the database", + ) + parser.add_argument( + "--log-all-errors", + dest="log_all_errors", + action="store_true", + default=False, + help="Print every error in full; by default only the first 10 per error group are shown", + ) + + def handle(self, **options): + transaction.set_autocommit(False) + log.debug("import_bvl_vcf got options:\n%s", pprint.pformat(options)) + start_time = time() + self.log_all_errors = options["log_all_errors"] + + vcf_file = options["vcf_file"] + settings = VcfImportSettings( + VCF_FILE=vcf_file, + NA=options["na"], + OUT_CHR=options["out_chr"], + OUT_HYPHENS=options["out_hyphens"], + DEFAULT_TRANSCRIPT_SOURCE=options["default_transcript_source"], + CADD_DAMAGING_THRESHOLD=options["cadd_threshold"], + INPUT_TSV_PATH=options["input_tsv_dir"], + HASH_COMPARE=options["hash_compare"], + RANGES=options["ranges"], + ) + + convert_to_tsv = options["convert_to_tsv"] + + check_vcf(vcf_file) + + # Helper that returns a row generator for the given filter class + def make_row_iter(filter_cls, **filter_kwargs): + return filter_cls(vcf_file, settings, **filter_kwargs).getTableRows() + + # Table selection flags and corresponding filter / importer pairs + table_specs = [] + if options["genes"]: + table_specs.append(("Gene", "genes", GenesCallFilter, bvltools.GeneImporter)) + if options["variants"]: + table_specs.append(("Variant", "variants", VariantsCallFilter, bvltools.VariantImporter)) + if options["transcripts"]: + table_specs.append(("Transcript", "transcripts", TranscriptsCallFilter, bvltools.TranscriptImporter)) + if options["snvs"]: + table_specs.append(("SNV", "snvs", SnvsCallFilter, bvltools.SNVImporter)) + if options["gvfs"]: + table_specs.append(("GVF", "genomic_variome_frequencies", GenomicBvlFrequenciesCallFilter, bvltools.GVFImporter)) + if options["vts"]: + table_specs.append(("Variant Transcript", "variants_transcripts", VariantsTranscriptsCallFilter, bvltools.VariantTranscriptImporter)) + if options["annotations"]: + table_specs.append(("Annotation", "variants_annotations", VariantsAnnotationsCallFilter, bvltools.AnnotationImporter)) + if options["consequences"]: + table_specs.append(("Consequence", "variants_consequences", VariantsConsequencesCallFilter, bvltools.ConsequenceImporter)) + + if convert_to_tsv: + # TSV-only mode: write one TSV file per table, do not touch the database. + tsv_output_dir = Path(options["tsv_output_dir"]) + tsv_output_dir.mkdir(parents=True, exist_ok=True) + + for _label, table_name, filter_cls, _importer_cls in table_specs: + table_dir = Path(tsv_output_dir, table_name) + table_dir.mkdir(parents=True, exist_ok=True) + _write_to_tsv(make_row_iter(filter_cls), table_name, table_dir) + + # Copy the severities file to the output dir if it exists + import shutil + severities_src = Path(options["input_tsv_dir"], "severities.tsv") + severities_dst = Path(tsv_output_dir, "severities.tsv") + (shutil.copy(severities_src, severities_dst) and log.info(f"Copied severities file to {severities_dst}")) if severities_src else None + + + hash_list, hash_map, final_hash = compute_dir_hash(tsv_output_dir) + log.info("Hash list:\n%s", hash_list) + log.info("Final hash of output files:\n%s", final_hash) + + compare_dir = options["hash_compare"] + if compare_dir: + hash_list2, hash_map2, final_hash2 = compute_dir_hash(compare_dir) + log.info("Comparison hash list:\n%s", hash_list2) + log.info("Comparison final hash:\n%s", final_hash2) + for fname, h in hash_map.items(): + h2 = hash_map2.get(fname) + if h == h2: + log.info("File %s hashes match. ✅", fname) + else: + log.warning("File %s hashes don't match ❌", fname) + + end_time = time() + elapsed = end_time - start_time + sys.stdout.write( + f"\n\nElapsed time: {elapsed // 3600:.0f} hours " + f"{(elapsed % 3600) // 60:.0f} minutes " + f"{elapsed % 60:.1f} seconds\n" + ) + return + + # DB import mode + importer_options = { + "path": options["input_tsv_dir"], + "progress": options["progress"], + "failfast": options["failfast"], + "ignore-existing": options["ignore-existing"], + "batch": options["batch"], + "delete": options["delete"], + } + + errors_map = {} + warnings_map = {} + counts_map = {} + + last_step_time = time() + + def log_timing(name): + nonlocal last_step_time + duration = time() - last_step_time + hours = int(duration // 3600) + minutes = int((duration % 3600) // 60) + seconds = duration % 60 + log.info("%s took %dh %dm %.1fs", name, hours, minutes, seconds) + last_step_time = time() + + if options["severities"]: + errors, warnings, counts = bvltools.SeverityImporter(importer_options).import_data() + log_timing("severities") + errors_map["Severity"] = errors + warnings_map["Severity"] = warnings + counts_map["Severity"] = counts + for label, _table_name, filter_cls, importer_cls in table_specs: + errors_map[label], warnings_map[label], counts_map[label] = ( + importer_cls(importer_options).import_data(make_row_iter(filter_cls)) + ) + log_timing(label) + + for entity_type, errs in errors_map.items(): + self.log_errors(entity_type, errs) + for entity_type, warns in warnings_map.items(): + self.log_warnings(entity_type, warns) + + if options["rollback-on-error"]: + if any(errors_map.values()): + sys.stderr.write("\nNot committing transaction (errors)\n") + transaction.rollback() + return + + if options["dry-run"]: + sys.stderr.write("\nNot committing transaction (dry-run)\n") + transaction.rollback() + else: + transaction.commit() + + def report_counts(model, counts): + if counts: + total, success = counts + percent = round(100 * success / total, 5) if total else 100 + sys.stdout.write(f"\n{model}: {success} out of {total}: {percent} %") + + for entity_type, counts in counts_map.items(): + report_counts(entity_type, counts) + + end_time = time() + elapsed = end_time - start_time + sys.stdout.write( + f"\n\nElapsed time: {elapsed // 3600:.0f} hours " + f"{(elapsed % 3600) // 60:.0f} minutes " + f"{elapsed % 60:.1f} seconds\n" + ) diff --git a/variome_backend/management/tools.py b/variome_backend/management/import_tools.py similarity index 73% rename from variome_backend/management/tools.py rename to variome_backend/management/import_tools.py index a85cd0f5..07ae4d0a 100644 --- a/variome_backend/management/tools.py +++ b/variome_backend/management/import_tools.py @@ -1,18 +1,100 @@ +import enum import logging import csv import sys +from collections import defaultdict +from dataclasses import dataclass from pathlib import Path from django.db.models import IntegerField, Q, F, Value as V from django.db.models.functions import Substr, StrIndex, Cast -from django.db import transaction +from django.db import connection, transaction +from django.core.management.color import no_style import variome_backend.library.models as bvlmodels log = logging.getLogger("management") +class ImportCode(enum.Enum): + """Error and warning codes assigned when import messages are produced. + + Using an enum means grouping is exact (by enum identity) rather than + relying on fragile post-hoc text parsing. + """ + # ── Errors ──────────────────────────────────────────────────────────────── + BULK_CREATE_FAILED = "bulk create failed" + COUNT_ERROR = "error counting objects" + CSV_READ_ERROR = "CSV read error" + GENE_NOT_FOUND = "gene not found" + MISSING_REQUIRED_FIELD = "required field missing" + OBJECT_CREATE_FAILED = "object creation failed" + OBJECT_UPDATE_FAILED = "object update failed" + OBJECT_UPSERT_FAILED = "object create/update failed" + SEVERITY_NOT_FOUND = "severity not found" + UNEXPECTED_UPDATE_COUNT = "unexpected number of rows updated" + VARIANT_NOT_FOUND = "variant not found" + VARIANT_TRANSCRIPT_NOT_FOUND = "variant transcript not found" + + # ── Warnings ────────────────────────────────────────────────────────────── + PROCESSING_LIMIT_HIT = "processing stopped at limit" + UNCLEANABLE_ROW = "row skipped due to uncleanable data" + + +@dataclass +class ImportMessage: + """A single import error or warning with an associated code. + + The *code* is used to group similar messages during output formatting. + The *detail* string provides human-readable context for the specific + occurrence. + """ + code: ImportCode + detail: str + + def __str__(self) -> str: + return self.detail + + +# Number of example messages shown per group before truncating +_MESSAGES_SHOWN_PER_GROUP = 10 + + +def format_messages(messages, log_all=False): + """Return a list of output lines for *messages* (errors or warnings). + + Messages are grouped by :attr:`ImportMessage.code`. At most + ``_MESSAGES_SHOWN_PER_GROUP`` examples are shown per group; a summary + line is appended for any truncated group. + + Pass *log_all=True* to skip grouping and show every message. + """ + if not messages: + return [] + if log_all: + return [f"* {m}" for m in messages] + + groups = defaultdict(list) + for msg in messages: + groups[msg.code].append(msg) + + lines = [] + for msgs in groups.values(): + shown = msgs[:_MESSAGES_SHOWN_PER_GROUP] + lines.extend(f"* {m}" for m in shown) + remaining = len(msgs) - len(shown) + if remaining: + lines.append( + f" ... {remaining} more similar -- " + "run with --log-all-errors to see all" + ) + return lines + + +format_errors = format_messages + + class bvlDialect(csv.excel_tab): pass @@ -88,102 +170,141 @@ def clean_data(self, row): return True, row @transaction.atomic - def import_data(self): - """Locate the appropriate data file and load objects from it""" + def import_data(self, row_iter=None): + """Load objects from a row iterator or from the TSV file for this importer. + + Args: + row_iter: Optional iterator/generator yielding dict rows. When provided, + the TSV file is not read; rows come directly from the caller + (e.g. a VCF CallFilter's getTableRows() generator). When + omitted, the importer reads from its configured TSV file path. + """ if self.delete: self.model.objects.all().delete() + sequence_sql = connection.ops.sequence_reset_sql(no_style(), [self.model]) + with connection.cursor() as cursor: + for sql in sequence_sql: + cursor.execute(sql) errors = [] warnings = [] - input_file = self.get_input_path() self.populate_caches() n_count = 0 + self._row_num = 0 + + if row_iter is None: + input_file = self.get_input_path() + with open(input_file, newline="") as f: + self.reader = csv.DictReader(f, dialect=self.csv_dialect) + errors, warnings, n_count = self._process_rows( + self.reader, errors, warnings, use_csv_reader=True + ) + else: + errors, warnings, n_count = self._process_rows( + row_iter, errors, warnings, use_csv_reader=False + ) - with open(input_file, newline="") as f: - self.reader = csv.DictReader(f, dialect=self.csv_dialect) - bulk_create = [] + if not self.failfast: + # errors in middle of transaction get swallowed without try / except here try: - for row in self.reader: - n_count += 1 - if self.progress and self.reader.line_num % 1000 == 0: - sys.stderr.write( - f"{self.object_name} {self.reader.line_num}...\n" - ) - if self.limit is not None and self.limit < self.reader.line_num: - warnings.append( - f"stopped processing after limit ({self.limit}) hit" - ) - break - success, obj = self.clean_data(row) - if success: - row = obj - else: - for msg in obj: - warnings.append( - f"ignored row {self.reader.line_num} due to " - f"uncleanable data: {msg}" - ) - continue - if self.batch: - if not self.check_existing(row): - success, obj = self.created_row_object(row) - if success: - bulk_create.append(obj) - else: - errors.append(obj) - if self.failfast: - return errors, warnings, (0, 0) - elif self.update_existing: - success, obj = self.update(row) - if not success: - errors.append(obj) - if self.failfast: - return errors, warnings, (0, 0) - else: - success, obj = self.update_or_create(row) - if not success: + n_success = self.model.objects.count() + except Exception as e: + errors.append(ImportMessage( + ImportCode.COUNT_ERROR, + f"error counting {self.object_name_plural}: {e}", + )) + n_success = 0 + else: + n_success = self.model.objects.count() + return errors, warnings, (n_count, n_success) + + def _process_rows(self, row_iter, errors, warnings, use_csv_reader=False): + """Process rows from the given iterator, writing to the database. + + Returns (errors, warnings, n_count). + """ + n_count = 0 + bulk_create = [] + try: + for row in row_iter: + n_count += 1 + if use_csv_reader: + self._row_num = self.reader.line_num + else: + self._row_num = n_count + if self.progress and self._row_num % 1000 == 0: + sys.stderr.write( + f"{self.object_name} {self._row_num}...\n" + ) + if self.limit is not None and self.limit < self._row_num: + warnings.append(ImportMessage( + ImportCode.PROCESSING_LIMIT_HIT, + f"stopped processing after limit ({self.limit}) hit", + )) + break + success, obj = self.clean_data(row) + if success: + row = obj + else: + for msg in obj: + warnings.append(ImportMessage( + ImportCode.UNCLEANABLE_ROW, + f"row {self._row_num}: {msg}", + )) + continue + if self.batch: + if not self.check_existing(row): + success, obj = self.created_row_object(row) + if success: + bulk_create.append(obj) + else: errors.append(obj) if self.failfast: - return errors, warnings, (0, 0) - - if len(bulk_create) >= self.batch_size: - try: - self.model.objects.bulk_create(bulk_create) - bulk_create = [] - except Exception as e: - msg = ( - f"error in bulk create of {self.object_name_plural} " - f"after input line {self.reader.line_num}: \n row:{row}\n{e}" - ) - errors.append(msg) + return errors, warnings, n_count + elif self.update_existing: + success, obj = self.update(row) + if not success: + errors.append(obj) if self.failfast: - return errors, warnings, (0, 0) - # Run out of input rows, tidy up outstanding create/updates - if len(bulk_create): + return errors, warnings, n_count + else: + success, obj = self.update_or_create(row) + if not success: + errors.append(obj) + if self.failfast: + return errors, warnings, n_count + + if len(bulk_create) >= self.batch_size: try: self.model.objects.bulk_create(bulk_create) bulk_create = [] except Exception as e: - msg = ( + errors.append(ImportMessage( + ImportCode.BULK_CREATE_FAILED, f"error in bulk create of {self.object_name_plural} " - f"after end of input {self.reader.line_num}\n row:{row}\n{e}" - ) - errors.append(msg) + f"after input row {self._row_num}: {e}\nrow: {row}", + )) if self.failfast: - return errors, warnings, (0, 0) - except csv.Error as e: - errors.append(f"error reading line {self.reader.line_num}: {e}") - if self.failfast: - return errors, warnings, (0, 0) - if not self.failfast: - # errors in middle of transaction get swallowed without try / except here - try: - n_success = self.model.objects.count() - except Exception as e: - errors.append(f"error counting {self.object_name_plural}: {e}") - n_success = 0 - else: - n_success = self.model.objects.count() - return errors, warnings, (n_count, n_success) + return errors, warnings, n_count + # Run out of input rows, tidy up outstanding create/updates + if len(bulk_create): + try: + self.model.objects.bulk_create(bulk_create) + except Exception as e: + errors.append(ImportMessage( + ImportCode.BULK_CREATE_FAILED, + f"error in bulk create of {self.object_name_plural} " + f"after end of input: row {self._row_num}\nrow: {row}", + )) + if self.failfast: + return errors, warnings, n_count + except csv.Error as e: + errors.append(ImportMessage( + ImportCode.CSV_READ_ERROR, + f"error reading row {self._row_num}: {e}", + )) + if self.failfast: + return errors, warnings, n_count + return errors, warnings, n_count class SeverityImporter(Importer): @@ -212,22 +333,22 @@ def check_existing(self, row): def created_row_object(self, row): """Create a new object to represent the row supplied. - Return True, object on success or False, msg on failure""" + Return True, object on success or False, ImportMessage on failure""" try: return True, self.model( severity_number=row["severity_number"], consequence=row["consequence"], ) except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_CREATE_FAILED, f"error creating {self.object_name} object for bulk create " - f"from line {self.reader.line_num}: {e}" + f"from line {self._row_num}: {e}", ) - return False, msg def update(self, row): """Update the existing object in the DB for the supplied row. - Return True, 1 on success or False, msg on failure""" + Return True, 1 on success or False, ImportMessage on failure""" # This is significantly *faster* than doing bulk updates try: updated = self.model.objects.filter( @@ -236,22 +357,22 @@ def update(self, row): consequence=row["consequence"], ) if updated != 1: - msg = ( - f"error, updated {updated} DB rows from line {self.reader.line_num}" + return False, ImportMessage( + ImportCode.UNEXPECTED_UPDATE_COUNT, + f"error, updated {updated} DB rows from line {self._row_num}", ) - return False, msg return True, updated except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPDATE_FAILED, f"error updating {self.object_name} object from " - f"line {self.reader.line_num}: {e}" + f"line {self._row_num}: {e}", ) - return False, msg def update_or_create(self, row): """Use foo.objects.update_or_create() to update or create the entry for the supplied row in DB. - Return True, obj on success or False, msg on failure""" + Return True, obj on success or False, ImportMessage on failure""" # int(float(foo)) to convert possible scientific notation to int. sucks. try: obj, created = self.model.objects.update_or_create( @@ -262,11 +383,11 @@ def update_or_create(self, row): ) return True, obj except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPSERT_FAILED, f"error creating/updating {self.object_name} from " - f"line {self.reader.line_num}: {e}" + f"line {self._row_num}: {e}", ) - return False, msg class GeneImporter(Importer): @@ -290,28 +411,28 @@ def check_existing(self, row): def created_row_object(self, row): """Create a new object to represent the row supplied. - Return True, object on success or False, msg on failure""" + Return True, object on success or False, ImportMessage on failure""" try: return True, self.model( short_name=row["short_name"], ) except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_CREATE_FAILED, f"error creating {self.object_name} object for bulk create " - f"from line {self.reader.line_num}: {e}" + f"from line {self._row_num}: {e}", ) - return False, msg def update(self, row): """Update the existing object in the DB for the supplied row. - Return True, 1 on success or False, msg on failure""" + Return True, 1 on success or False, ImportMessage on failure""" # No update possible with single field. No-op. return True, 1 def update_or_create(self, row): """Use foo.objects.update_or_create() to update or create the entry for the supplied row in DB. - Return True, obj on success or False, msg on failure""" + Return True, obj on success or False, ImportMessage on failure""" # int(float(foo)) to convert possible scientific notation to int. sucks. try: obj, created = self.model.objects.update_or_create( @@ -319,11 +440,11 @@ def update_or_create(self, row): ) return True, obj except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPSERT_FAILED, f"error creating/updating {self.object_name} from " - f"line {self.reader.line_num}: {e}" + f"line {self._row_num}: {e}", ) - return False, msg class VariantImporter(Importer): @@ -359,7 +480,7 @@ def clean_data(self, row): def created_row_object(self, row): """Create a new object to represent the row supplied. - Return True, object on success or False, msg on failure""" + Return True, object on success or False, ImportMessage on failure""" try: return True, self.model( variant_id=row["variant_id"], @@ -367,15 +488,15 @@ def created_row_object(self, row): filter=row["filter"], ) except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_CREATE_FAILED, f"error creating {self.object_name} object for bulk create " - f"from line {self.reader.line_num}: {e}" + f"from line {self._row_num}: {e}", ) - return False, msg def update(self, row): """Update the existing object in the DB for the supplied row. - Return True, 1 on success or False, msg on failure""" + Return True, 1 on success or False, ImportMessage on failure""" # This is significantly *faster* than doing bulk updates try: updated = self.model.objects.filter(variant_id=row["variant_id"]).update( @@ -383,22 +504,22 @@ def update(self, row): filter=row["filter"], ) if updated != 1: - msg = ( - f"error, updated {updated} DB rows from line {self.reader.line_num}" + return False, ImportMessage( + ImportCode.UNEXPECTED_UPDATE_COUNT, + f"error, updated {updated} DB rows from line {self._row_num}", ) - return False, msg return True, updated except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPDATE_FAILED, f"error updating {self.object_name} object from " - f"line {self.reader.line_num}: {e}" + f"line {self._row_num}: {e}", ) - return False, msg def update_or_create(self, row): """Use foo.objects.update_or_create() to update or create the entry for the supplied row in DB. - Return True, obj on success or False, msg on failure""" + Return True, obj on success or False, ImportMessage on failure""" # int(float(foo)) to convert possible scientific notation to int. sucks. try: obj, created = self.model.objects.update_or_create( @@ -410,11 +531,11 @@ def update_or_create(self, row): ) return True, obj except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPSERT_FAILED, f"error creating/updating {self.object_name} from " - f"line {self.reader.line_num}: {e}" + f"line {self._row_num}: {e}", ) - return False, msg class TranscriptImporter(Importer): @@ -453,18 +574,18 @@ def check_existing(self, row): def created_row_object(self, row): """Create a new object to represent the row supplied. - Return True, object on success or False, msg on failure""" + Return True, object on success or False, ImportMessage on failure""" if row["gene"] is None or row["gene"] == "": gene = None else: gene = self.genes.get(row["gene"], None) if gene is None: - msg = ( + return False, ImportMessage( + ImportCode.GENE_NOT_FOUND, f"error creating {self.object_name} object {row['transcript_id']} " - f"for bulk create from line {self.reader.line_num}: " - f"gene {row['gene']} not found" + f"for bulk create from line {self._row_num}: " + f"gene {row['gene']} not found", ) - return False, msg try: return True, self.model( transcript_id=row["transcript_id"], @@ -474,15 +595,15 @@ def created_row_object(self, row): biotype=row["biotype"], ) except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_CREATE_FAILED, f"error creating {self.object_name} object {row['transcript_id']} " - f"for bulk create from line {self.reader.line_num}: {e}" + f"for bulk create from line {self._row_num}: {e}", ) - return False, msg def update(self, row): """Update the existing object in the DB for the supplied row. - Return True, 1 on success or False, msg on failure""" + Return True, 1 on success or False, ImportMessage on failure""" # This is significantly *faster* than doing bulk updates try: if row["gene"] is None or row["gene"] == "": @@ -490,11 +611,11 @@ def update(self, row): else: gene = self.genes.get(row["gene"], None) if gene is None: - msg = ( + return False, ImportMessage( + ImportCode.GENE_NOT_FOUND, f"error updating {self.object_name} object {row['transcript_id']} " - f"from line {self.reader.line_num}: gene {row['gene']} not found" + f"from line {self._row_num}: gene {row['gene']} not found", ) - return False, msg updated = self.model.objects.filter( transcript_id=row["transcript_id"] ).update( @@ -504,23 +625,23 @@ def update(self, row): biotype=row["biotype"], ) if updated != 1: - msg = ( + return False, ImportMessage( + ImportCode.UNEXPECTED_UPDATE_COUNT, f"error, updated {updated} DB rows for {self.object_name} " - f"{row['transcript_id']} from line {self.reader.line_num}" + f"{row['transcript_id']} from line {self._row_num}", ) - return False, msg return True, updated except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPDATE_FAILED, f"error updating {self.object_name} object {row['transcript_id']} " - f"from line {self.reader.line_num}: {e}" + f"from line {self._row_num}: {e}", ) - return False, msg def update_or_create(self, row): """Use foo.objects.update_or_create() to update or create the entry for the supplied row in DB. - Return True, obj on success or False, msg on failure""" + Return True, obj on success or False, ImportMessage on failure""" # int(float(foo)) to convert possible scientific notation to int. sucks. try: obj, created = self.model.objects.update_or_create( @@ -534,11 +655,11 @@ def update_or_create(self, row): ) return True, obj except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPSERT_FAILED, f"error creating/updating {self.object_name} {row['transcript_id']} " - f"from line {self.reader.line_num}: {e}" + f"from line {self._row_num}: {e}", ) - return False, msg class SNVImporter(Importer): @@ -590,7 +711,7 @@ def check_existing(self, row): def created_row_object(self, row): """Create a new object to represent the row supplied. - Return True, object on success or False, msg on failure""" + Return True, object on success or False, ImportMessage on failure""" try: return True, self.model( variant_id=self.variants[row["variant"]], @@ -612,15 +733,15 @@ def created_row_object(self, row): splice_ai=row["splice_ai"], ) except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_CREATE_FAILED, f"error creating {self.object_name} object for bulk create for " - f"variant {row['variant']} from line {self.reader.line_num}: {e}" + f"variant {row['variant']} from line {self._row_num}: {e}", ) - return False, msg def update(self, row): """Update the existing object in the DB for the supplied row. - Return True, 1 on success or False, msg on failure""" + Return True, 1 on success or False, ImportMessage on failure""" # This is significantly *faster* than doing bulk updates try: updated = self.model.objects.filter( @@ -644,23 +765,23 @@ def update(self, row): splice_ai=row["splice_ai"], ) if updated != 1: - msg = ( + return False, ImportMessage( + ImportCode.UNEXPECTED_UPDATE_COUNT, f"error, updated {updated} DB rows for variant {row['variant']} " - f"from line {self.reader.line_num}" + f"from line {self._row_num}", ) - return False, msg return True, updated except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPDATE_FAILED, f"error updating {self.object_name} object for variant " - f"{row['variant']} from line {self.reader.line_num}: {e}" + f"{row['variant']} from line {self._row_num}: {e}", ) - return False, msg def update_or_create(self, row): """Use foo.objects.update_or_create() to update or create the entry for the supplied row in DB. - Return True, obj on success or False, msg on failure""" + Return True, obj on success or False, ImportMessage on failure""" # int(float(foo)) to convert possible scientific notation to int. sucks. try: obj, created = self.model.objects.update_or_create( @@ -686,11 +807,11 @@ def update_or_create(self, row): ) return True, obj except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPSERT_FAILED, f"error creating/updating {self.object_name} for variant " - f"{row['variant']} from line {self.reader.line_num}: {e}" + f"{row['variant']} from line {self._row_num}: {e}", ) - return False, msg class GVFImporter(Importer): @@ -745,7 +866,7 @@ def check_existing(self, row): def created_row_object(self, row): """Create a new object to represent the row supplied. - Return True, object on success or False, msg on failure""" + Return True, object on success or False, ImportMessage on failure""" try: return True, self.model( variant_id=self.variants[row["variant"]], @@ -767,15 +888,15 @@ def created_row_object(self, row): ac_xy=row["ac_xy"], ) except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_CREATE_FAILED, f"error creating {self.object_name} object for bulk create for " - f"variant {row['variant']} from line {self.reader.line_num}: {e}" + f"variant {row['variant']} from line {self._row_num}: {e}", ) - return False, msg def update(self, row): """Update the existing object in the DB for the supplied row. - Return True, 1 on success or False, msg on failure""" + Return True, 1 on success or False, ImportMessage on failure""" # This is significantly *faster* than doing bulk updates try: updated = self.model.objects.filter( @@ -793,23 +914,23 @@ def update(self, row): quality=row["quality"], ) if updated != 1: - msg = ( + return False, ImportMessage( + ImportCode.UNEXPECTED_UPDATE_COUNT, f"error, updated {updated} DB rows for variant " - f"{row['variant']} from line {self.reader.line_num}" + f"{row['variant']} from line {self._row_num}", ) - return False, msg return True, updated except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPDATE_FAILED, f"error updating {self.object_name} object for variant " - f"{row['variant']} from line {self.reader.line_num}: {e}" + f"{row['variant']} from line {self._row_num}: {e}", ) - return False, msg def update_or_create(self, row): """Use foo.objects.update_or_create() to update or create the entry for the supplied row in DB. - Return True, obj on success or False, msg on failure""" + Return True, obj on success or False, ImportMessage on failure""" # int(float(foo)) to convert possible scientific notation to int. sucks. try: obj, created = self.model.objects.update_or_create( @@ -829,11 +950,11 @@ def update_or_create(self, row): ) return True, obj except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPSERT_FAILED, f"error creating/updating {self.object_name} for variant " - f"{row['variant']} from line {self.reader.line_num}: {e}" + f"{row['variant']} from line {self._row_num}: {e}", ) - return False, msg class GGFImporter(Importer): @@ -873,7 +994,7 @@ def check_existing(self, row): def created_row_object(self, row): """Create a new object to represent the row supplied. - Return True, object on success or False, msg on failure""" + Return True, object on success or False, ImportMessage on failure""" try: return True, self.model( variant_id=self.variants[row["variant"]], @@ -884,15 +1005,15 @@ def created_row_object(self, row): hemi_tot=row["hemi_tot"], ) except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_CREATE_FAILED, f"error creating {self.object_name} object for bulk create for " - f"variant {row['variant']} from line {self.reader.line_num}: {e}" + f"variant {row['variant']} from line {self._row_num}: {e}", ) - return False, msg def update(self, row): """Update the existing object in the DB for the supplied row. - Return True, 1 on success or False, msg on failure""" + Return True, 1 on success or False, ImportMessage on failure""" # This is significantly *faster* than doing bulk updates try: updated = self.model.objects.filter( @@ -905,23 +1026,23 @@ def update(self, row): hemi_tot=row["hemi_tot"], ) if updated != 1: - msg = ( + return False, ImportMessage( + ImportCode.UNEXPECTED_UPDATE_COUNT, f"error, updated {updated} DB rows for variant {row['variant']} " - f"from line {self.reader.line_num}" + f"from line {self._row_num}", ) - return False, msg return True, updated except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPDATE_FAILED, f"error updating {self.object_name} object for variant " - f"{row['variant']} from line {self.reader.line_num}: {e}" + f"{row['variant']} from line {self._row_num}: {e}", ) - return False, msg def update_or_create(self, row): """Use foo.objects.update_or_create() to update or create the entry for the supplied row in DB. - Return True, obj on success or False, msg on failure""" + Return True, obj on success or False, ImportMessage on failure""" # int(float(foo)) to convert possible scientific notation to int. sucks. try: obj, created = self.model.objects.update_or_create( @@ -936,11 +1057,11 @@ def update_or_create(self, row): ) return True, obj except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPSERT_FAILED, f"error creating/updating {self.object_name} for variant " - f"{row['variant']} from line {self.reader.line_num}: {e}" + f"{row['variant']} from line {self._row_num}: {e}", ) - return False, msg class VariantTranscriptImporter(Importer): @@ -1019,15 +1140,15 @@ def check_existing(self, row): def created_row_object(self, row): """Create a new object to represent the row supplied. - Return True, object on success or False, msg on failure""" + Return True, object on success or False, ImportMessage on failure""" variant = self.variants.get(row["variant"], None) if variant is None: - msg = ( + return False, ImportMessage( + ImportCode.VARIANT_NOT_FOUND, f"error creating {self.object_name} object {row['variant']} / " f"{row['transcript']} for bulk create from line " - f"{self.reader.line_num}: variant {row['variant']} not found" + f"{self._row_num}: variant {row['variant']} not found", ) - return False, msg transcript = self.transcripts.get(row["transcript"], None) try: @@ -1037,16 +1158,16 @@ def created_row_object(self, row): hgvsc=row["hgvsc"], ) except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_CREATE_FAILED, f"error creating {self.object_name} object for bulk create for " f"variant {row['variant']} / transcript {row['transcript']} from " - f"line {self.reader.line_num}: {e}" + f"line {self._row_num}: {e}", ) - return False, msg def update(self, row): """Update the existing object in the DB for the supplied row. - Return True, 1 on success or False, msg on failure""" + Return True, 1 on success or False, ImportMessage on failure""" # This is significantly *faster* than doing bulk updates try: updated = self.model.objects.filter( @@ -1056,25 +1177,25 @@ def update(self, row): hgvsc=row["hgvsc"], ) if updated != 1: - msg = ( + return False, ImportMessage( + ImportCode.UNEXPECTED_UPDATE_COUNT, f"error, updated {updated} DB rows for variant " f"{row['variant']} / transcript {row['transcript']} from " - f"line {self.reader.line_num}" + f"line {self._row_num}", ) - return False, msg return True, updated except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPDATE_FAILED, f"error updating {self.object_name} object for variant " f"{row['variant']} / transcript {row['transcript']} from " - f"line {self.reader.line_num}: {e}" + f"line {self._row_num}: {e}", ) - return False, msg def update_or_create(self, row): """Use foo.objects.update_or_create() to update or create the entry for the supplied row in DB. - Return True, obj on success or False, msg on failure""" + Return True, obj on success or False, ImportMessage on failure""" # int(float(foo)) to convert possible scientific notation to int. sucks. try: obj, created = self.model.objects.update_or_create( @@ -1086,12 +1207,12 @@ def update_or_create(self, row): ) return True, obj except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPSERT_FAILED, f"error creating/updating {self.object_name} for variant " f"{row['variant']} / transcript {row['transcript']} from " - f"line {self.reader.line_num}: {e}" + f"line {self._row_num}: {e}", ) - return False, msg class AnnotationImporter(Importer): @@ -1217,14 +1338,14 @@ def clean_data(self, row): def created_row_object(self, row): """Create a new object to represent the row supplied. - Return True, object on success or False, msg on failure""" + Return True, object on success or False, ImportMessage on failure""" vt = self.vts.get((row["variant"], row["transcript"]), None) if vt is None: - msg = ( - f"variant transcript object not found to annotate " - f"variant {row['variant']} transcript {row['transcript']}" + return False, ImportMessage( + ImportCode.VARIANT_TRANSCRIPT_NOT_FOUND, + "variant transcript object not found to annotate " + f"variant {row['variant']} transcript {row['transcript']}", ) - return False, msg try: return True, self.model( variant_transcript_id=vt, @@ -1234,16 +1355,16 @@ def created_row_object(self, row): impact=row["impact"], ) except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_CREATE_FAILED, f"error creating object for bulk create of {self.object_name} for " f"variant {row['variant']} / transcript {row['transcript']} from " - f"line {self.reader.line_num}: {e}" + f"line {self._row_num}: {e}", ) - return False, msg def update(self, row): """Update the existing object in the DB for the supplied row. - Return True, 1 on success or False, msg on failure""" + Return True, 1 on success or False, ImportMessage on failure""" # This is significantly *faster* than doing bulk updates try: updated = self.model.objects.filter( @@ -1255,24 +1376,24 @@ def update(self, row): impact=row["impact"], ) if updated != 1: - msg = ( + return False, ImportMessage( + ImportCode.UNEXPECTED_UPDATE_COUNT, f"error, updated {updated} DB rows for variant {row['variant']} " - f"/ transcript {row['transcript']} from line {self.reader.line_num}" + f"/ transcript {row['transcript']} from line {self._row_num}", ) - return False, msg return True, updated except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPDATE_FAILED, f"error updating {self.object_name} object for variant " f"{row['variant']} / transcript {row['transcript']} " - f"from line {self.reader.line_num}: {e}" + f"from line {self._row_num}: {e}", ) - return False, msg def update_or_create(self, row): """Use foo.objects.update_or_create() to update or create the entry for the supplied row in DB. - Return True, obj on success or False, msg on failure""" + Return True, obj on success or False, ImportMessage on failure""" # int(float(foo)) to convert possible scientific notation to int. sucks. try: obj, created = self.model.objects.update_or_create( @@ -1286,12 +1407,12 @@ def update_or_create(self, row): ) return True, obj except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPSERT_FAILED, f"error creating/updating {self.object_name} for variant " f"{row['variant']} / transcript {row['transcript']} from " - f"line {self.reader.line_num}: {e}" + f"line {self._row_num}: {e}", ) - return False, msg class ConsequenceImporter(Importer): @@ -1392,38 +1513,38 @@ def clean_data(self, row): def created_row_object(self, row): """Create a new object to represent the row supplied. - Return True, object on success or False, msg on failure""" + Return True, object on success or False, ImportMessage on failure""" vt = self.vts.get((row["variant"], row["transcript"]), None) if vt is None: - msg = ( + return False, ImportMessage( + ImportCode.VARIANT_TRANSCRIPT_NOT_FOUND, "variant transcript object not found for consequence of " - f"variant {row['variant']} transcript {row['transcript']}" + f"variant {row['variant']} transcript {row['transcript']}", ) - return False, msg - severity = self.severities.get(row["severity"], None) + severity = self.severities.get(row["severity"], self.severities.get(str(row["severity"]), None)) if severity is None: - msg = ( + return False, ImportMessage( + ImportCode.SEVERITY_NOT_FOUND, f"severity object with number {row['severity']} not found for " f"consequence of variant {row['variant']} " - f"transcript {row['transcript']}" + f"transcript {row['transcript']}", ) - return False, msg try: return True, self.model( variant_transcript_id=vt, severity_id=severity, ) except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_CREATE_FAILED, f"error creating object for bulk create of {self.object_name} for " f"variant {row['variant']} / transcript {row['transcript']} from " - f"line {self.reader.line_num}: {e}" + f"line {self._row_num}: {e}", ) - return False, msg def update(self, row): """Update the existing object in the DB for the supplied row. - Return True, 1 on success or False, msg on failure""" + Return True, 1 on success or False, ImportMessage on failure""" # This is significantly *faster* than doing bulk updates try: updated = self.model.objects.filter( @@ -1433,24 +1554,24 @@ def update(self, row): ) if updated < 1: # variant-transcript pairs can have multiple consequences - msg = ( + return False, ImportMessage( + ImportCode.UNEXPECTED_UPDATE_COUNT, f"error, updated {updated} DB rows for variant {row['variant']} " - f"/ transcript {row['transcript']} from line {self.reader.line_num}" + f"/ transcript {row['transcript']} from line {self._row_num}", ) - return False, msg return True, updated except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPDATE_FAILED, f"error updating {self.object_name} object for variant " f"{row['variant']} / transcript {row['transcript']} from " - f"line {self.reader.line_num}: {e}" + f"line {self._row_num}: {e}", ) - return False, msg def update_or_create(self, row): """Use foo.objects.update_or_create() to update or create the entry for the supplied row in DB. - Return True, obj on success or False, msg on failure""" + Return True, obj on success or False, ImportMessage on failure""" # int(float(foo)) to convert possible scientific notation to int. sucks. try: obj, created = self.model.objects.update_or_create( @@ -1461,9 +1582,9 @@ def update_or_create(self, row): ) return True, obj except Exception as e: - msg = ( + return False, ImportMessage( + ImportCode.OBJECT_UPSERT_FAILED, f"error creating/updating {self.object_name} for variant " f"{row['variant']} / transcript {row['transcript']} from " - f"line {self.reader.line_num}: {e}" + f"line {self._row_num}: {e}", ) - return False, msg diff --git a/variome_backend/management/table_docs.md b/variome_backend/management/table_docs.md new file mode 100644 index 00000000..cddee4cc --- /dev/null +++ b/variome_backend/management/table_docs.md @@ -0,0 +1,327 @@ + +## Common Data Sources + +### Pipeline VCF Files +All variant types are first processed through: +1. **Variant calling tools** (DeepVariant for SNVs, Mutect2 for MT, Manta/Smoove for SVs, MELT for MEIs, ExpansionHunter for STRs) +2. **Hail** for quality control and frequency calculations (AF, AC, AN, homozygote counts stratified by sex: tot/XX/XY) +3. **VEP (Variant Effect Predictor)** for functional annotation + +### External Reference Files +- **gnomAD VCF files**: Population frequency databases for SNVs and MT variants +- **severity_table.tsv**: Maps VEP consequence terms to numeric severity scores +- **STR variant catalogue JSON**: Reference for STR loci with gene annotations + +--- + +## Table Descriptions + +### 1. genes +**Script**: [`SNV_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/SNV_data_organization.R#L320), [`MT_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/MT_data_organization.R#L232), [`SV_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/SV_data_organization.R#L289), [`MEI_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/MEI_data_organization.R#L224), [`STR_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/STR_data_organization.R#L150) + +**Data Source**: VCF INFO field, VEP annotation CSQ subfield `SYMBOL` + +**Description**: Extracts unique gene symbols from VEP annotations. + +**Processing**: +- Parse the CSQ annotation from VCF INFO field +- Split by pipe delimiter to extract SYMBOL field +- Filter out NA/empty values +- Output unique gene short names + +**Output Fields**: `short_name` + +--- + +### 2. transcripts +**Script**: [`SNV_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/SNV_data_organization.R#L335), [`MT_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/MT_data_organization.R#L248) + +**Data Source**: VCF INFO field, VEP annotation CSQ subfields: `Feature`, `SYMBOL`, `SOURCE`, `TSL` + +**Description**: Associates transcripts with genes and indicates transcript source (Ensembl or RefSeq). + +**Processing**: +- Parse CSQ annotation from VCF INFO field +- Extract: transcript ID (Feature), gene (SYMBOL), source (SOURCE), transcript support level (TSL) +- Recode SOURCE: "Ensembl" → "E", "RefSeq" → "R" +- Filter out entries without transcript IDs +- Output unique transcript records + +**Output Fields**: `transcript_id`, `gene`, `transcript_type`, `tsl` + +**Note**: SV, MEI, and STR variants are not associated with specific transcripts, so these tables are only generated for SNV and MT variants. + +--- + +### 3. variants +**Script**: [`SNV_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/SNV_data_organization.R#L291), [`MT_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/MT_data_organization.R#L163), [`SV_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/SV_data_organization.R#L276), [`MEI_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/MEI_data_organization.R#L211), [`STR_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/STR_data_organization.R#L142) + +**Data Source**: VCF ID field (variant identifier: chr_pos_ref_alt format) + +**Description**: Master variant list with variant type classification. + +**Processing**: +- Extract variant ID from VCF ID field +- Assign variant type: "SNV" for single nucleotide variants, "MT" for mitochondrial variants, "SV" for structural variants +- Output unique variant identifiers with type + +**Output Fields**: `variant_id`, `var_type` + +--- + +### 4. variants_transcripts +**Script**: [`SNV_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/SNV_data_organization.R#L246), [`MT_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/MT_data_organization.R#L174) + +**Data Source**: VCF INFO field, VEP annotation CSQ subfields: `Feature`, variant ID, `HGVSc` + +**Description**: Links variants to transcripts with HGVS coding sequence notation. + +**Processing**: +- Parse CSQ annotation from VCF INFO field +- Extract: transcript ID (Feature), variant ID, HGVSc (coding sequence change) +- Filter out intergenic variants (where transcript is NA) +- Output unique variant-transcript associations + +**Output Fields**: `transcript`, `variant`, `hgvsc` + +--- + +### 5. variants_annotations +**Script**: [`SNV_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/SNV_data_organization.R#L283), [`MT_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/MT_data_organization.R#L205) + +**Data Source**: VCF INFO field, VEP annotation CSQ subfields: `HGVSp`, `SIFT`, `PolyPhen`, `Feature`, variant ID + +**Description**: Protein-level annotations for variants including pathogenicity predictions. + +**Processing**: +- Parse CSQ annotation from VCF INFO field +- Extract: HGVSp (protein change), SIFT score/prediction, PolyPhen score/prediction, transcript ID, variant ID +- Decode URL-encoded characters in HGVSp (%3D → =) +- Filter to entries with valid HGVSp values (protein-coding variants only) +- Output unique variant-transcript annotation records + +**Output Fields**: `hgvsp`, `sift`, `polyphen`, `transcript`, `variant` + +--- + +### 6. variants_consequences +**Script**: [`SNV_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/SNV_data_organization.R#L265), [`MT_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/MT_data_organization.R#L194) + +**Data Source**: VCF INFO field, VEP annotation CSQ subfield `Consequence`, severity_table.tsv + +**Description**: Maps variants to transcripts with numeric severity scores based on consequence type. + +**Processing**: +- Parse CSQ annotation from VCF INFO field +- Extract Consequence field (may contain multiple consequences separated by "&") +- Split compound consequences into separate rows +- Join with severity_table.tsv to convert consequence terms to numeric severity +- Filter out intergenic variants +- Output variant-transcript-severity associations + +**Output Fields**: `severity`, `variant`, `transcript` + +--- + +### 7. snvs +**Script**: [`SNV_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/SNV_data_organization.R#L234) + +**Data Source**: VCF (CHROM, POS, ID, REF, ALT, QUAL, INFO field with VEP CSQ) + +**Description**: SNV-specific annotation table with variant details, CADD scores, database IDs, and browser URLs. + +**Processing**: +- Parse VCF fixed fields and VEP CSQ annotation +- Extract VARIANT_CLASS, CADD_PHRED, Existing_variation, VAR_SYNONYMS +- Calculate variant length (1 for SNVs, or ref/alt length difference for indels) +- Derive CADD interpretation: ≤15 = "Tolerable", >15 = "Damaging" +- Calculate maximum SpliceAI score from DS_AG, DS_AL, DS_DG, DS_DL fields +- Extract dbSNP ID from Existing_variation (if contains "rs") +- Extract ClinVar VCV number from VAR_SYNONYMS +- Generate URLs: + - dbSNP: `https://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=` + - UCSC: `https://genome.ucsc.edu/cgi-bin/hgTracks?db=&highlight=.chr:-&position=chr:-` + - Ensembl: `https://uswest.ensembl.org/Homo_sapiens/Location/View?r=:-` (GRCh38) or grch37.ensembl.org (GRCh37) + - ClinVar: `https://www.ncbi.nlm.nih.gov/clinvar/variation//` + - gnomAD: `https://gnomad.broadinstitute.org/variant/---?dataset=gnomad_r3` (GRCh38) or gnomad_r2_1 (GRCh37) +- Filter to unique variants + +**Output Fields**: `variant`, `type`, `length`, `chr`, `pos`, `ref`, `alt`, `cadd_score`, `cadd_intr`, `dbsnp_id`, `dbsnp_url`, `ucsc_url`, `ensembl_url`, `clinvar_url`, `gnomad_url`, `clinvar_vcv`, `splice_ai` + +--- + +### 8. mts +**Script**: [`MT_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/MT_data_organization.R#L154) + +**Data Source**: VCF (CHROM, POS, ID, REF, ALT, INFO field with VEP CSQ) + +**Description**: Mitochondrial variant annotation table with MT-specific details and URLs. + +**Processing**: +- Parse VCF fixed fields and VEP CSQ annotation +- Adjust variant IDs for indels to match gnomAD format (position +1, trimmed sequence) +- Extract dbSNP ID and ClinVar VCV from VEP annotations +- Generate URLs: + - UCSC: `https://genome.ucsc.edu/cgi-bin/hgTracks?db=&highlight=.chrM:-&position=chrM:-` + - MitoMap: `https://mitomap.org/cgi-bin/search_allele?variant=>` + - gnomAD: `https://gnomad.broadinstitute.org/variant/M---?dataset=gnomad_r3` (if in gnomAD) + - dbSNP: `https://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=` + - ClinVar: `https://www.ncbi.nlm.nih.gov/clinvar/variation//` +- Filter to unique variants + +**Output Fields**: `variant`, `pos`, `ref`, `alt`, `ucsc_url`, `mitomap_url`, `gnomad_url`, `dbsnp_id`, `dbsnp_url`, `clinvar_url`, `clinvar_vcv` + +**Note**: The "svs" naming convention is also used for structural variants (see below). + +--- + +### 9. genomic_ibvl_frequencies +**Script**: [`SNV_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/SNV_data_organization.R#L225), [`SV_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/SV_data_organization.R#L237), [`MEI_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/MEI_data_organization.R#L179) + +**Data Source**: VCF INFO field, Hail-calculated frequencies: `AF_tot_XX_XY`, `AC_tot_XX_XY`, `AN_tot_XX_XY`, `hom_tot_XX_XY` + +**Description**: Internal cohort (IBVL) allele frequencies stratified by sex. + +**Processing**: +- Parse Hail-added INFO fields +- Each field contains comma-separated values: total, XX (female), XY (male) +- Split values: + - af_tot, af_xx, af_xy (allele frequencies) + - ac_tot, ac_xx, ac_xy (allele counts) + - an_tot, an_xx, an_xy (allele numbers - total chromosomes tested) + - hom_tot, hom_xx, hom_xy (homozygote counts) +- Include QUAL field from VCF +- Output unique variant frequency records + +**Output Fields**: `variant`, `af_tot`, `af_xx`, `af_xy`, `ac_tot`, `ac_xx`, `ac_xy`, `an_tot`, `an_xx`, `an_xy`, `hom_tot`, `hom_xx`, `hom_xy`, `quality` + +--- + +### 10. genomic_gnomad_frequencies +**Script**: [`SNV_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/SNV_data_organization.R#L311) (uses [`gnomad_frequency_table.nf`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/gnomad_frequency_table.nf)) + +**Data Source**: External gnomAD VCF files, processed through `gnomad_frequency_table.nf` + +**Description**: gnomAD population frequencies for variants present in the cohort. + +**Processing**: +1. **Pre-processing** (gnomad_frequency_table.nf): Extract subset of fields from gnomAD VCF using GATK VariantsToTable: + - Fields: CHROM, POS, REF, ALT, QUAL, FILTER, AF, AC, AN, nhomalt + - Additional GRCh38 fields: exomes_filters, genomes_filters + - Split by chromosome for efficiency +2. **R script processing**: + - Create variant ID: chr_pos_ref_alt + - Adjust chromosome labels to match pipeline format (remove "chr" prefix if present) + - Intersect with IBVL variants (keep only variants present in cohort) + - Output gnomAD frequencies for matching variants + +**Output Fields**: +- GRCh37: `variant`, `af_tot`, `ac_tot`, `an_tot`, `hom_tot`, `FILTER` +- GRCh38: `variant`, `af_tot`, `ac_tot`, `an_tot`, `hom_tot`, `FILTER`, `exomes_filters`, `genomes_filters` + +--- + +### 11. mt_ibvl_frequencies +**Script**: [`MT_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/MT_data_organization.R#L145) + +**Data Source**: VCF GT (genotype) fields with Hail-calculated MT-specific metrics + +**Description**: Mitochondrial variant frequencies including heteroplasmy information. + +**Processing**: +- Parse Hail-added GT fields (not INFO): + - AC_hom, AC_het (homoplasmic and heteroplasmic allele counts) + - AF_hom, AF_het (homoplasmic and heteroplasmic allele frequencies) + - AN (total allele number) + - max_observed_heteroplasmy (maximum heteroplasmy level observed) + - heteroplasmy_histogram (distribution of heteroplasmy levels) +- Extract histogram values and format as comma-separated string +- Filter out variants where AN=0 (no observations) +- Adjust variant IDs for indels to match gnomAD format +- Output unique MT variant frequencies + +**Output Fields**: `variant`, `an`, `ac_hom`, `ac_het`, `af_hom`, `af_het`, `hl_hist`, `max_hl` + +--- + +### 12. mt_gnomad_frequencies +**Script**: [`MT_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/MT_data_organization.R#L219) + +**Data Source**: External gnomAD mitochondrial TSV file (pre-processed, not VCF format) + +**Description**: gnomAD mitochondrial population frequencies for variants in the cohort. + +**Processing**: +- Read pre-processed gnomAD MT table (TSV format with fields: chromosome, position, ref, alt, AN, AC_hom, AC_het, AF_hom, AF_het, max_observed_heteroplasmy) +- Create variant ID: chr_pos_ref_alt +- Adjust IDs for indels to match format +- Intersect with IBVL MT variants +- Output gnomAD frequencies for matching variants + +**Output Fields**: `variant`, `an`, `ac_hom`, `ac_het`, `af_hom`, `af_het`, `max_hl` + +--- + +## Additional SV-Specific Tables + +The pipeline also generates SV-specific consequence and annotation tables that differ from the SNV/MT pattern: + +### svs (Structural Variants) +**Scripts**: [`SV_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/SV_data_organization.R#L246), [`MEI_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/MEI_data_organization.R#L188) + +**Data Source**: VCF with SV-specific INFO fields (SVLEN, SVTYPE, AVG_START, AVG_END, etc.) + +**Description**: Structural variant annotations including SV type, size, and genomic coordinates. + +**Processing**: +- Parse SV-specific INFO fields: + - For SVs: SVLEN, SVTYPE, AVG_START, AVG_END, AVG_LEN, IDLIST (to determine algorithm: Manta or Smoove) + - For MEIs: SVLEN, SVTYPE, TSD, ASSESS, INTERNAL (algorithm is always MELT) +- Extract VEP CSQ annotations +- Calculate coordinates and construct UCSC browser URLs +- Generate gnomAD SV region URLs (GRCh37 only): `https://gnomad.broadinstitute.org/region/--?dataset=gnomad_sv_r2_1` + +**Output Fields**: `variant`, `chr1`, `chr1_pos1`, `chr1_pos2`, `sv_type`, `sv_length`, `algorithm`, `ucsc_url`, `gnomad_id`, `gnomad_url` + +### sv_consequences +**Scripts**: [`SV_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/SV_data_organization.R), [`MEI_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/MEI_data_organization.R), [`STR_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/STR_data_organization.R#L146) + +**Data Source**: VCF INFO field, VEP CSQ Consequence field + +**Description**: Gene-level consequences for structural variants (no transcript associations). + +**Processing**: +- Parse CSQ Consequence field +- Split compound consequences (separated by "&") into separate rows +- Associate with gene symbols +- No transcript-level associations (SVs affect genes broadly) +- For STR: consequence is "NA", gene comes from JSON variant catalogue + +**Output Fields**: `gene`, `variant`, `consequence` + +### str +**Script**: [`STR_data_organization.R`](https://github.com/wassermanlab/Variant_catalogue_pipeline/blob/main/modules/STR_data_organization.R#L138) + +**Data Source**: VCF (REF, RU, REPID, END from INFO), ExpansionHunter variant catalogue JSON, genotype REPCN field + +**Description**: Short tandem repeat allele distributions and repeat unit information. + +**Processing**: +- Read VCF and extract STR-specific fields: + - RU: repeat unit sequence + - REF: reference repeat count + - END: end position + - REPID: repeat ID +- Read JSON variant catalogue to map genomic regions to gene symbols (LocusId) +- Parse REPCN genotype field (repeat count) for all samples +- Calculate allele size distribution: + - Extract allele 1 and allele 2 from each sample + - Missing genotypes = homozygous reference + - Count frequency of each allele size + - Format as comma-separated: "size1:count1,size2:count2,..." +- Calculate min and max repeat counts observed +- Generate gnomAD STR URL: `https://gnomad.broadinstitute.org/short-tandem-repeat/?dataset=gnomad_r3` + +**Output Fields**: `variant`, `repeat_unit`, `min_n_repeat`, `max_n_repeat`, `allele_distrib` + +--- \ No newline at end of file diff --git a/variome_backend/management/vcf_import_settings.py b/variome_backend/management/vcf_import_settings.py new file mode 100644 index 00000000..ec26a33a --- /dev/null +++ b/variome_backend/management/vcf_import_settings.py @@ -0,0 +1,18 @@ +""" +Settings dataclass for VCF import filters. +""" +from dataclasses import dataclass +from typing import Optional + + +@dataclass +class VcfImportSettings: + VCF_FILE: Optional[str] + NA: str + OUT_CHR: bool + OUT_HYPHENS: bool + DEFAULT_TRANSCRIPT_SOURCE: str + CADD_DAMAGING_THRESHOLD: int + INPUT_TSV_PATH: str + HASH_COMPARE: Optional[str] + RANGES: Optional[str] diff --git a/variome_backend/management/vcf_import_utils.py b/variome_backend/management/vcf_import_utils.py new file mode 100644 index 00000000..5f9023d3 --- /dev/null +++ b/variome_backend/management/vcf_import_utils.py @@ -0,0 +1,23 @@ +def validate_get(v, index, na="."): + if not v or v is None: + return na + if not isinstance(v, list): + if v == 0: + return "0" + return v + if len(v) <= index: + return na + val = v[index] + + if isinstance(val, float) and float(val).is_integer(): + return str(val).replace('.0', '') + + elif isinstance(val, str): + if val == "" or val is None: + return na + else: + return val + if val in [None, ""]: + return na + + return val diff --git a/variome_backend/settings.py b/variome_backend/settings.py index 3521e17a..37586647 100644 --- a/variome_backend/settings.py +++ b/variome_backend/settings.py @@ -22,11 +22,14 @@ IS_DEVELOPMENT = os.environ.get("ENVIRONMENT") != "production" DOMAIN = os.environ.get("HOST") or "127.0.0.1" -DB = os.environ.get("DB") or "postgresql://variome:variome@localhost:5432/variome" +DB = os.environ.get("DB") os.environ.setdefault("FRONTEND_PORT", "3000") FRONTEND_PORT = os.environ.get("FRONTEND_PORT", "3000") -print(f"...connecting to {DB}...") +if DB: + print(f"...connecting to {DB}...") +else: + print("...using SQLite ...") # SECURITY WARNING: keep the secret key used in production secret! SECRET_KEY = ( @@ -96,7 +99,6 @@ "variome_backend", "variome_backend.library", "variome_backend.library_access", - "pghistory.admin", "django.contrib.admin", "django.contrib.auth", "django.contrib.contenttypes", @@ -107,8 +109,6 @@ "django_extensions", "corsheaders", "tracking", - "pghistory", - "pgtrigger", "auditlog", ] @@ -122,7 +122,6 @@ "django.contrib.auth.middleware.AuthenticationMiddleware", "django.contrib.messages.middleware.MessageMiddleware", "django.middleware.clickjacking.XFrameOptionsMiddleware", - "pghistory.middleware.HistoryMiddleware", "auditlog.middleware.AuditlogMiddleware", ] AUTHENTICATION_BACKENDS = [] @@ -213,16 +212,23 @@ # Database # https://docs.djangoproject.com/en/4.2/ref/settings/#databases -DATABASES = { - "default": dj_database_url.parse( - DB, - conn_max_age=0, +if DB: + DATABASES = { + "default": dj_database_url.parse( + DB, + conn_max_age=0, conn_health_checks=True - ), - "OPTIONS": { - "connect_timeout":0, + ), + "OPTIONS": { + "connect_timeout": 0} + } +else: + DATABASES = { + "default": { + "ENGINE": "django.db.backends.sqlite3", + "NAME": os.path.join(BASE_DIR, "data", "bvl.sqlite"), + } } -} # Password validation diff --git a/variome_backend/tests/__init__.py b/variome_backend/tests/__init__.py new file mode 100644 index 00000000..e69de29b diff --git a/variome_backend/tests/fixtures/vcf/manychrs.vcf b/variome_backend/tests/fixtures/vcf/manychrs.vcf new file mode 100644 index 00000000..2ba1e6bb --- /dev/null +++ b/variome_backend/tests/fixtures/vcf/manychrs.vcf @@ -0,0 +1,20 @@ +##fileformat=VCFv4.2 +##hailversion=0.2.97-937922d7f46c +##INFO= +##INFO= +##INFO= +##INFO= +##VEP="v101" time="2022-09-19 20:58:12" cache="/mnt/common/SILENT/Act3/VEP/homo_sapiens_merged/105_GRCh37" ensembl-io=101.943b6c2 ensembl=101.856c8e8 ensembl-variation=101.819eef2 ensembl-funcgen=101.b918a49 1000genomes="phase3" COSMIC="92" ClinVar="202012" HGMD-PUBLIC="20204" assembly="GRCh37.p13" dbSNP="154" gencode="GENCODE 19" genebuild="2011-04" gnomAD="r2.1" polyphen="2.2.2" refseq="2020-10-26 17:03:42 - GCF_000001405.25_GRCh37.p13_genomic.gff" regbuild="1.0" sift="sift5.2.2" +##INFO= +#CHROM POS ID REF ALT QUAL FILTER INFO +10 1000 1_1000_A_G A G 99.9 . AC_tot_XX_XY=34,18,15,1;AF_tot_XX_XY=0.188889,0.187500,0.182927,0.500000;AN_tot_XX_XY=180,96,82,2;hom_tot_XX_XY=34,0,0,0;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs200028125||||SNV|||||||||||||||||0.847|-0.175374||||||||| +9 1001 1_1001_A_G A G 99.9 . AC_tot_XX_XY=34,18,15,1;AF_tot_XX_XY=0.188889,0.187500,0.182927,0.500000;AN_tot_XX_XY=180,96,82,2;hom_tot_XX_XY=34,0,0,0;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs200028125||||SNV|||||||||||||||||0.847|-0.175374||||||||| +1 1002 1_1002_A_G A G 99.9 . AC_tot_XX_XY=34,18,15,1;AF_tot_XX_XY=0.188889,0.187500,0.182927,0.500000;AN_tot_XX_XY=180,96,82,2;hom_tot_XX_XY=34,0,0,0;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs200028125||||SNV|||||||||||||||||0.847|-0.175374||||||||| +1 1003 1_1003_A_G A G 99.9 . AC_tot_XX_XY=34,18,15,1;AF_tot_XX_XY=0.188889,0.187500,0.182927,0.500000;AN_tot_XX_XY=180,96,82,2;hom_tot_XX_XY=34,0,0,0;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs200028125||||SNV|||||||||||||||||0.847|-0.175374||||||||| +2 1700 2_1700_A_G A G 99.9 . AC_tot_XX_XY=34,18,15,1;AF_tot_XX_XY=0.188889,0.187500,0.182927,0.500000;AN_tot_XX_XY=180,96,82,2;hom_tot_XX_XY=34,0,0,0;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs200028125||||SNV|||||||||||||||||0.847|-0.175374||||||||| +2 1701 2_1701_A_G A G 99.9 . AC_tot_XX_XY=34,18,15,1;AF_tot_XX_XY=0.188889,0.187500,0.182927,0.500000;AN_tot_XX_XY=180,96,82,2;hom_tot_XX_XY=34,0,0,0;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs200028125||||SNV|||||||||||||||||0.847|-0.175374||||||||| +2 1702 2_1702_A_G A G 99.9 . AC_tot_XX_XY=34,18,15,1;AF_tot_XX_XY=0.188889,0.187500,0.182927,0.500000;AN_tot_XX_XY=180,96,82,2;hom_tot_XX_XY=34,0,0,0;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs200028125||||SNV|||||||||||||||||0.847|-0.175374||||||||| +2 1703 2_1703_A_G A G 99.9 . AC_tot_XX_XY=34,18,15,1;AF_tot_XX_XY=0.188889,0.187500,0.182927,0.500000;AN_tot_XX_XY=180,96,82,2;hom_tot_XX_XY=34,0,0,0;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs200028125||||SNV|||||||||||||||||0.847|-0.175374||||||||| +22 300 22_300_G_C G C 20.00 . AC_tot_XX_XY=1,0,1,0;AF_tot_XX_XY=0.00555556,0.00000,0.0119048,0.00000;AN_tot_XX_XY=180,94,84,2;hom_tot_XX_XY=0,0,0,0;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LA16c-60H5.7|ENSG00000215270|Transcript|ENST00000398242.2|processed_pseudogene|1/1||ENST00000398242.2:n.402G>C||402|||||rs879338000||1||SNV|Clone_based_vega_gene||||Ensembl||G|G|||||||||7.655|0.334920|||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NBEAP3|ENSG00000223875|Transcript|ENST00000420638.1|unprocessed_pseudogene||1/3|ENST00000420638.1:n.232+1621C>G|||||||rs879338000||-1||SNV|HGNC|40004|||Ensembl||G|G|||||||||7.655|0.334920||||||||| +22 350 22_350_G_C G C 20.00 . AC_tot_XX_XY=1,0,1,0;AF_tot_XX_XY=0.00555556,0.00000,0.0119048,0.00000;AN_tot_XX_XY=180,94,84,2;hom_tot_XX_XY=0,0,0,0;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LA16c-60H5.7|ENSG00000215270|Transcript|ENST00000398242.2|processed_pseudogene|1/1||ENST00000398242.2:n.402G>C||402|||||rs879338000||1||SNV|Clone_based_vega_gene||||Ensembl||G|G|||||||||7.655|0.334920|||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NBEAP3|ENSG00000223875|Transcript|ENST00000420638.1|unprocessed_pseudogene||1/3|ENST00000420638.1:n.232+1621C>G|||||||rs879338000||-1||SNV|HGNC|40004|||Ensembl||G|G|||||||||7.655|0.334920||||||||| +22 360 22_360_G_C G C 20.00 . AC_tot_XX_XY=1,0,1,0;AF_tot_XX_XY=0.00555556,0.00000,0.0119048,0.00000;AN_tot_XX_XY=180,94,84,2;hom_tot_XX_XY=0,0,0,0;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LA16c-60H5.7|ENSG00000215270|Transcript|ENST00000398242.2|processed_pseudogene|1/1||ENST00000398242.2:n.402G>C||402|||||rs879338000||1||SNV|Clone_based_vega_gene||||Ensembl||G|G|||||||||7.655|0.334920|||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NBEAP3|ENSG00000223875|Transcript|ENST00000420638.1|unprocessed_pseudogene||1/3|ENST00000420638.1:n.232+1621C>G|||||||rs879338000||-1||SNV|HGNC|40004|||Ensembl||G|G|||||||||7.655|0.334920||||||||| diff --git a/variome_backend/tests/fixtures/vcf/mock_mt.vcf b/variome_backend/tests/fixtures/vcf/mock_mt.vcf new file mode 100644 index 00000000..8efcc518 --- /dev/null +++ b/variome_backend/tests/fixtures/vcf/mock_mt.vcf @@ -0,0 +1,5 @@ +##fileformat=VCFv4.1 +##VEP="v101" time="2022-09-20 11:30:12" cache="/mnt/common/SILENT/Act3/VEP/homo_sapiens_merged/105_GRCh38" ensembl-io=101.943b6c2 ensembl-funcgen=101.b918a49 ensembl-variation=101.819eef2 ensembl=101.856c8e8 1000genomes="phase3" COSMIC="92" ClinVar="202106" ESP="V2-SSA137" HGMD-PUBLIC="20204" assembly="GRCh38.p13" dbSNP="154" gencode="GENCODE 39" genebuild="2014-07" gnomAD="r2.1.1" polyphen="2.2.2" refseq="2021-05-28 21:42:08 - GCF_000001405.39_GRCh38.p13_genomic.gff" regbuild="1.0" sift="sift5.2.2" +##INFO= +#CHROM POS ID REF ALT filters AC_hom AC_het AF_hom AF_het AN max_observed_heteroplasmy heteroplasmy_histogram +chrM 8602 8602 T C PASS 5 10;CSQ=C|missense_variant|MODERATE|MT-ATP6|ENSG00000198899|Transcript|ENST00000361899|protein_coding|||ENST00000361899.2:c.321T>C|ENSP00000355046.2:p.Ile107Thr||||I/T||rs879029014||1||SNV||||||||||||||||||||||||||| 5.0000e-02 1.0000e-01 100 9.5000e-01 {"bin_edges":[0.0,0.1,0.2,0.30000000000000004,0.4,0.5,0.6000000000000001,0.7000000000000001,0.8,0.9,1.0],"bin_freq":[5,10,15,8,6,4,3,2,1,1],"n_smaller":0,"n_larger":0} diff --git a/variome_backend/tests/fixtures/vcf/mock_snv.vcf b/variome_backend/tests/fixtures/vcf/mock_snv.vcf new file mode 100644 index 00000000..65969877 --- /dev/null +++ b/variome_backend/tests/fixtures/vcf/mock_snv.vcf @@ -0,0 +1,11 @@ +##fileformat=VCFv4.2 +##hailversion=0.2.97-937922d7f46c +##INFO= +##INFO= +##INFO= +##INFO= +##VEP="v101" time="2022-09-19 20:58:12" cache="/mnt/common/SILENT/Act3/VEP/homo_sapiens_merged/105_GRCh37" ensembl-io=101.943b6c2 ensembl=101.856c8e8 ensembl-variation=101.819eef2 ensembl-funcgen=101.b918a49 1000genomes="phase3" COSMIC="92" ClinVar="202012" HGMD-PUBLIC="20204" assembly="GRCh37.p13" dbSNP="154" gencode="GENCODE 19" genebuild="2011-04" gnomAD="r2.1" polyphen="2.2.2" refseq="2020-10-26 17:03:42 - GCF_000001405.25_GRCh37.p13_genomic.gff" regbuild="1.0" sift="sift5.2.2" +##INFO= +#CHROM POS ID REF ALT QUAL FILTER INFO +1 100000 1_100000_A_G A G 99.9 . AC_tot_XX_XY=34,18,15,1;AF_tot_XX_XY=0.188889,0.187500,0.182927,0.500000;AN_tot_XX_XY=180,96,82,2;hom_tot_XX_XY=34,0,0,0;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||rs200028125||||SNV|||||||||||||||||0.847|-0.175374||||||||| +22 16123121 22_16123121_G_C G C 20.00 . AC_tot_XX_XY=1,0,1,0;AF_tot_XX_XY=0.00555556,0.00000,0.0119048,0.00000;AN_tot_XX_XY=180,94,84,2;hom_tot_XX_XY=0,0,0,0;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|LA16c-60H5.7|ENSG00000215270|Transcript|ENST00000398242.2|processed_pseudogene|1/1||ENST00000398242.2:n.402G>C||402|||||rs879338000||1||SNV|Clone_based_vega_gene||||Ensembl||G|G|||||||||7.655|0.334920|||||||||,C|intron_variant&non_coding_transcript_variant|MODIFIER|NBEAP3|ENSG00000223875|Transcript|ENST00000420638.1|unprocessed_pseudogene||1/3|ENST00000420638.1:n.232+1621C>G|||||||rs879338000||-1||SNV|HGNC|40004|||Ensembl||G|G|||||||||7.655|0.334920||||||||| diff --git a/variome_backend/tests.py b/variome_backend/tests/test_middleware.py similarity index 99% rename from variome_backend/tests.py rename to variome_backend/tests/test_middleware.py index b3b131e6..733acf63 100644 --- a/variome_backend/tests.py +++ b/variome_backend/tests/test_middleware.py @@ -24,7 +24,7 @@ def _make_request(self, path="/api/variant/"): return request def _create_public_user(self): - user = User(username="public_demo_user", email="public_demo_user@ibvl.ca") + user = User(username="public_demo_user", email="public_demo_user@example.com") user.set_unusable_password() user.save() return user diff --git a/variome_backend/tests/test_vcf_filters.py b/variome_backend/tests/test_vcf_filters.py new file mode 100644 index 00000000..66d90a05 --- /dev/null +++ b/variome_backend/tests/test_vcf_filters.py @@ -0,0 +1,475 @@ +""" +Unit tests for VCF CallFilter classes. + +These tests validate the expected input/output structures for each CallFilter +using real VCF fixture files. + +To focus on a single test (similar to fit() in Mocha): + +1. Use unittest.skip decorator on other tests: + @unittest.skip("Temporarily skipping") + +2. Run specific test from command line: + python -m unittest variome_backend.tests.test_vcf_filters.TestTranscriptsCallFilter + python -m unittest variome_backend.tests.test_vcf_filters.TestTranscriptsCallFilter.test_transform_output_structure + +3. Use pytest with -k flag (if pytest is installed): + pytest variome_backend/tests/test_vcf_filters.py -k "Transcripts" + +4. Use environment variable or attribute (demonstrated below with FOCUS_TEST) +""" + +import unittest +import os +import copy + +from variome_backend.management.vcf_import_settings import VcfImportSettings + +# Default test settings (matches defaults used in production) +SETTINGS = VcfImportSettings( + VCF_FILE=None, + NA=".", + OUT_CHR=True, + OUT_HYPHENS=True, + DEFAULT_TRANSCRIPT_SOURCE="E", + CADD_DAMAGING_THRESHOLD=20, + INPUT_TSV_PATH="data/fixtures", + HASH_COMPARE=None, + RANGES=None, +) + + +# --- FOCUS LOGIC FOR CLASSES AND METHODS --- +_focused_classes = set() +_focused_methods = set() + +def focus(obj): + """ + Decorator to mark a test class or method as focused. + If any class or method is focused, only those run. + """ + if isinstance(obj, type): # class + obj._focused = True + _focused_classes.add(obj) + return obj + else: # method + obj._focused_method = True + _focused_methods.add(obj) + return obj + +def _any_focus(): + return bool(_focused_classes or _focused_methods) + +class FocusableTestCase(unittest.TestCase): + @classmethod + def setUpClass(cls): + # If any class or method is focused, skip this class unless focused or has focused methods + if _any_focus(): + # If class is focused, allow + if getattr(cls, '_focused', False): + return + # If any method in this class is focused, allow + for attr in dir(cls): + meth = getattr(cls, attr) + if getattr(meth, '_focused_method', False): + print(f"Running focused test: {cls.__name__}.{attr}") + return + # Otherwise, skip whole class + raise unittest.SkipTest("Skipping - not focused") + + def setUp(self): + # If any method is focused, skip this test unless it's focused + if _focused_methods: + test_method = getattr(self, self._testMethodName) + if not getattr(test_method, '_focused_method', False): + self.skipTest("Skipping - not focused method") + + +from variome_backend.management.VCFCallFilters.CallFilter import CallFilter +from variome_backend.management.VCFCallFilters.GenesCallFilter import GenesCallFilter +from variome_backend.management.VCFCallFilters.TranscriptsCallFilter import TranscriptsCallFilter +from variome_backend.management.VCFCallFilters.VariantsCallFilter import VariantsCallFilter +from variome_backend.management.VCFCallFilters.VariantsTranscriptsCallFilter import VariantsTranscriptsCallFilter +from variome_backend.management.VCFCallFilters.VariantsAnnotationsCallFilter import VariantsAnnotationsCallFilter +from variome_backend.management.VCFCallFilters.VariantsConsequencesCallFilter import VariantsConsequencesCallFilter +from variome_backend.management.VCFCallFilters.SnvsCallFilter import SnvsCallFilter +from variome_backend.management.VCFCallFilters.MtsCallFilter import MtsCallFilter +from variome_backend.management.VCFCallFilters.GenomicBvlFrequenciesCallFilter import GenomicBvlFrequenciesCallFilter +from variome_backend.management.VCFCallFilters.MtBvlFrequenciesCallFilter import MtBvlFrequenciesCallFilter + + +# Helper function to get fixture paths +def get_fixture_path(filename: str) -> str: + """Get the absolute path to a fixture file.""" + return os.path.join(os.path.dirname(os.path.abspath(__file__)), 'fixtures', 'vcf', filename) + +class TestBaseFilter(FocusableTestCase): + + testInstance = None + class MockFilter(CallFilter): + def __init__(self, vcf_file_path, settings): + super().__init__(vcf_file_path, settings) + def load_vcf_file(self, vcf_file_path: str): + super().load_vcf_file(vcf_file_path) + def getTableRows(self): + # Return a simple dict for each variant: chrom, pos, id + rows = [] + for rec in self.vcf_record_stream(): + rows.append({ + 'chrom': rec.CHROM, + 'pos': rec.POS, + 'id': rec.ID + }) + return rows + def setUp(self): + self.testInstance = self.MockFilter(get_fixture_path('mock_snv.vcf'), SETTINGS) + + def test_instance_creation(self): + self.assertIsInstance(self.testInstance, CallFilter) + + def test_has_records(self): + records = list(self.testInstance.vcf_record_stream()) + self.assertEqual(len(records), 2) + + def test_csq_getter(self): + records = list(self.testInstance.vcf_record_stream()) + csq_values = self.testInstance.get_csq_values(records[1], 'SYMBOL') + self.assertEqual(csq_values, ['LA16c-60H5.7', 'NBEAP3']) + + def test_range_parameters(self): + test_settings = copy.deepcopy(SETTINGS) + test_settings.RANGES = '22:300-350' + instance = self.MockFilter(get_fixture_path('manychrs.vcf'), test_settings) + records = list(instance.vcf_record_stream()) + self.assertEqual(len(records), 2) + self.assertEqual(records[0].POS, 300) + self.assertEqual(records[1].POS, 350) + + test_settings.RANGES = '1:1002-1003,2:1701-1703' + instance = self.MockFilter(get_fixture_path('manychrs.vcf'), test_settings) + records = list(instance.vcf_record_stream()) + self.assertEqual(len(records), 5) + self.assertEqual(records[0].POS, 1002) + self.assertEqual(records[1].POS, 1003) + self.assertEqual(records[2].POS, 1701) + self.assertEqual(records[3].POS, 1702) + self.assertEqual(records[4].POS, 1703) + + def test_make_variant_id(self): + test_settings = copy.deepcopy(SETTINGS) + test_settings.OUT_CHR = True + test_settings.OUT_HYPHENS = True + instance = self.MockFilter(get_fixture_path('mock_snv.vcf'), test_settings) + first_record = list(instance.vcf_record_stream())[0] + self.assertEqual(instance.make_variant_id(first_record),'chr1-100000-A-G') + + test_settings.OUT_CHR = False + test_settings.OUT_HYPHENS = False + instance = self.MockFilter(get_fixture_path('mock_snv.vcf'), test_settings) + first_record = list(instance.vcf_record_stream())[0] + self.assertEqual(instance.make_variant_id(first_record),'1_100000_A_G') + + def test_should_retry_loading_vcf_if_file_disappears(self): + """Test that load_vcf_file retries if file is temporarily unavailable.""" + import builtins + from unittest import mock + import io + + # Path to a real VCF fixture file + vcf_path = get_fixture_path('mock_snv.vcf') + test_settings = copy.deepcopy(SETTINGS) + + # Prepare a real file handle for the second call + real_open = builtins.open + call_count = {'count': 0} + + def flaky_open(file, mode='r', *args, **kwargs): + if os.path.abspath(file) == os.path.abspath(vcf_path) and 'b' in mode: + call_count['count'] += 1 + if call_count['count'] < 3: # Simulate file disappearance on the first two calls + raise FileNotFoundError("Simulated file disappearance") + else: + return real_open(file, mode, *args, **kwargs) + return real_open(file, mode, *args, **kwargs) + + # Patch open only in the CallFilter module context + with mock.patch('builtins.open', side_effect=flaky_open): + with mock.patch('time.sleep', return_value=None): + # Now instantiate the filter, which will trigger file open + try: + instance = self.MockFilter(vcf_path, test_settings) + # If we get here, the retry worked + self.assertIsInstance(instance, CallFilter) + except FileNotFoundError: + self.fail("CallFilter did not retry loading the VCF file after disappearance.") + +class TestGenesCallFilter(FocusableTestCase): + """Test GenesCallFilter.""" + + # Class variables initialized to None + filter = None + + def setUp(self): + """Set up test fixtures.""" + self.filter = GenesCallFilter( + get_fixture_path('mock_snv.vcf'), + SETTINGS + ) + + def test_getTableRows_output_structure(self): + """Test that getTableRows returns correct structure.""" + result = list(self.filter.getTableRows()) + self.assertIsInstance(result, list) + self.assertEqual(len(result), 2, "Expected 2 rows from mock_snv.vcf") + self.assertIn('short_name', result[0]) + +class TestTranscriptsCallFilter(FocusableTestCase): + """Test TranscriptsCallFilter.""" + + # Class variables initialized to None + filter = None + vcf_files = None + + def setUp(self): + """Set up test fixtures.""" + self.vcf_files = get_fixture_path('mock_snv.vcf') + self.filter = TranscriptsCallFilter(self.vcf_files, SETTINGS) + + def test_getTableRows_output_structure(self): + """Test that getTableRows returns correct structure.""" + result = list(self.filter.getTableRows()) + self.assertIsInstance(result, list) + + self.assertIn('transcript_id', result[0]) + self.assertIn('gene', result[0]) + self.assertIn('transcript_type', result[0]) + self.assertIn('tsl', result[0]) + # Check transcript type is encoded (E or R) + self.assertIn(result[0]['transcript_type'], ['.']) + self.assertIn(result[1]['transcript_type'], ['E']) + +class TestVariantsCallFilter(FocusableTestCase): + """Test VariantsCallFilter.""" + + # Class variables initialized to None + filter = None + vcf_files = None + + def setUp(self): + """Set up test fixtures.""" + self.vcf_files = get_fixture_path('mock_snv.vcf') + self.filter = VariantsCallFilter( + self.vcf_files, + SETTINGS + ) + + def test_getTableRows_output_structure(self): + """Test that getTableRows returns correct structure.""" + + result = list(self.filter.getTableRows()) + self.assertIsInstance(result, list) + self.assertEqual(len(result), 2, "Expected 2 rows from mock_snv.vcf") + + self.assertIn('variant_id', result[0]) + self.assertIn('var_type', result[0]) + # Check variant type matches + self.assertEqual(result[0]['var_type'], 'SNV') + +class TestVariantsTranscriptsCallFilter(FocusableTestCase): + """Test VariantsTranscriptsCallFilter.""" + + # Class variables initialized to None + filter = None + vcf_files = None + + def setUp(self): + """Set up test fixtures.""" + self.vcf_files = get_fixture_path('mock_snv.vcf') + self.filter = VariantsTranscriptsCallFilter( + self.vcf_files, + SETTINGS + ) + + def test_getTableRows_output_structure(self): + """Test that getTableRows returns correct structure.""" + result = list(self.filter.getTableRows()) + self.assertIsInstance(result, list) + self.assertEqual(len(result), 3, "Expected 3 rows from mock_snv.vcf") + valid_result = result[1] # sometimes (or with diff config, result 0 will be valid) + + self.assertEqual(valid_result['transcript'], 'ENST00000398242.2') + self.assertEqual(valid_result['hgvsc'], 'ENST00000398242.2:n.402G>C') + +class TestVariantsAnnotationsCallFilter(FocusableTestCase): + """Test VariantsAnnotationsCallFilter.""" + + # Class variables initialized to None + filter = None + vcf_files = None + + def setUp(self): + """Set up test fixtures.""" + self.vcf_files = get_fixture_path('mock_snv.vcf') + self.filter = VariantsAnnotationsCallFilter( + self.vcf_files, + SETTINGS + ) + + def test_getTableRows_output_structure(self): + """Test that getTableRows returns correct structure.""" + + result = list(self.filter.getTableRows()) + self.assertIsInstance(result, list) + + self.assertIn('hgvsp', result[0]) + self.assertIn('sift', result[0]) + self.assertIn('polyphen', result[0]) + self.assertIn('transcript', result[0]) + self.assertIn('variant', result[0]) + +class TestVariantsConsequencesCallFilter(FocusableTestCase): + """Test VariantsConsequencesCallFilter.""" + + # Class variables initialized to None + filter = None + vcf_files = None + + def setUp(self): + """Set up test fixtures.""" + self.vcf_files = get_fixture_path('mock_snv.vcf') + self.filter = VariantsConsequencesCallFilter( + self.vcf_files, + SETTINGS + ) + + def test_getTableRows_output_structure(self): + """Test that getTableRows returns correct structure.""" + + result = list(self.filter.getTableRows()) + self.assertIsInstance(result, list) + + self.assertIn('severity', result[0]) + self.assertIn('variant', result[0]) + self.assertIn('transcript', result[0]) + self.assertEqual(result[0]['severity'], 40) + self.assertEqual(result[1]['severity'], 27) + +class TestSnvsCallFilter(FocusableTestCase): + """Test SnvsCallFilter.""" + + # Class variables initialized to None + filter = None + vcf_files = None + + def setUp(self): + """Set up test fixtures.""" + self.vcf_files = get_fixture_path('mock_snv.vcf') + self.filter = SnvsCallFilter( + self.vcf_files, + SETTINGS + ) + + def test_getTableRows_output_structure(self): + """Test that getTableRows returns correct structure.""" + + result = list(self.filter.getTableRows()) + + self.assertIsInstance(result, list) + + self.assertIn('variant', result[0]) + self.assertIn('type', result[0]) + self.assertIn('chr', result[0]) + self.assertIn('pos', result[0]) + + +class TestGenomicBvlFrequenciesCallFilter(FocusableTestCase): + """Test GenomicBvlFrequenciesCallFilter.""" + + # Class variables initialized to None + filter = None + vcf_files = None + + def setUp(self): + """Set up test fixtures.""" + self.vcf_files = get_fixture_path('mock_snv.vcf') + self.filter = GenomicBvlFrequenciesCallFilter( + self.vcf_files, + SETTINGS + ) + + def test_getTableRows_output_structure(self): + """Test that getTableRows returns correct structure.""" + + result = list(self.filter.getTableRows()) + self.assertIsInstance(result, list) + self.assertIn('variant', result[0]) + self.assertIn('af_tot', result[0]) + self.assertIn('ac_tot', result[0]) + self.assertEqual(result[0]['af_tot'], 0.188889) + self.assertEqual(result[0]['hom_tot'], 34) + + +# Mitochondrial (not yet implemented) +class TestMtsCallFilter(FocusableTestCase): + """Test MtsCallFilter.""" + + # Class variables initialized to None + filter = None + vcf_files = None + + def setUp(self): + self.skipTest("MtsCallFilter.getTableRows() not yet implemented") + """Set up test fixtures.""" + self.vcf_files = get_fixture_path('mock_mt.vcf') + self.filter = MtsCallFilter( + self.vcf_files, + SETTINGS + ) + + def test_getTableRows_output_structure(self): + """Test that getTableRows returns correct structure.""" + try: + result = self.filter.getTableRows() + except NotImplementedError: + self.skipTest("MtsCallFilter.getTableRows() not yet implemented") + + self.assertIsInstance(result, list) + + + self.assertIn('variant', result[0]) + self.assertIn('pos', result[0]) + self.assertIn('ref', result[0]) + self.assertIn('alt', result[0]) + +class TestMtBvlFrequenciesCallFilter(FocusableTestCase): + """Test MtBvlFrequenciesCallFilter.""" + + # Class variables initialized to None + filter = None + vcf_files = None + + def setUp(self): + self.skipTest("MtBvlFrequenciesCallFilter.getTableRows() not yet implemented") + """Set up test fixtures.""" + self.vcf_files = get_fixture_path('mock_mt.vcf') + self.filter = MtBvlFrequenciesCallFilter( + self.vcf_files, + SETTINGS + ) + + def test_getTableRows_output_structure(self): + """Test that getTableRows returns correct structure.""" + try: + result = self.filter.getTableRows() + except NotImplementedError: + self.skipTest("MtBvlFrequenciesCallFilter.getTableRows() not yet implemented") + + self.assertIsInstance(result, list) + + self.assertIn('variant', result[0]) + self.assertIn('an', result[0]) + self.assertIn('ac_hom', result[0]) + self.assertIn('ac_het', result[0]) + +if __name__ == '__main__': + unittest.main()